ClinVar Miner

List of variants in gene RP1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1074
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772 0.24558
NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln) rs35084330 0.03211
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304 0.03129
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_006269.2(RP1):c.2833G>T (p.Val945Leu) rs16920621 0.00690
NM_006269.2(RP1):c.4565G>A (p.Gly1522Asp) rs77860871 0.00580
NM_006269.2(RP1):c.885T>C (p.Val295=) rs80043423 0.00468
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
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.279G>T (p.Thr93=) rs144293929 0.00184
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006269.2(RP1):c.4509T>C (p.Thr1503=) rs144274712 0.00151
NM_006269.2(RP1):c.4512A>G (p.Leu1504=) rs148722424 0.00150
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe) rs147990983 0.00147
NM_006269.2(RP1):c.6366T>C (p.Ile2122=) rs114157620 0.00144
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.4511T>C (p.Leu1504Ser) rs138106612 0.00127
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_006269.2(RP1):c.2385C>T (p.Ile795=) rs184739468 0.00105
NM_006269.2(RP1):c.487G>A (p.Asp163Asn) rs370436803 0.00074
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.419A>G (p.His140Arg) rs147736171 0.00073
NM_006269.2(RP1):c.615+16G>T rs199894846 0.00064
NM_006269.2(RP1):c.1334G>A (p.Arg445His) rs757110150 0.00058
NM_006269.2(RP1):c.3976G>C (p.Ala1326Pro) rs114797722 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.618T>C (p.Val206=) rs146337514 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.3657T>C (p.Ser1219=) rs145115379 0.00029
NM_006269.2(RP1):c.1632A>G (p.Ala544=) rs147786754 0.00026
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.1530A>G (p.Ser510=) rs148663385 0.00023
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.2450A>G (p.Lys817Arg) rs560123447 0.00015
NM_006269.2(RP1):c.2116G>C (p.Gly706Arg) rs199879316 0.00014
NM_006269.2(RP1):c.2938G>A (p.Gly980Ser) rs202226256 0.00014
NM_006269.2(RP1):c.3589A>G (p.Ser1197Gly) rs201446128 0.00014
NM_006269.2(RP1):c.563C>A (p.Thr188Lys) rs201235412 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.441C>T (p.Pro147=) rs547844896 0.00012
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.4488A>G (p.Glu1496=) rs370268072 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.2894G>T (p.Ser965Ile) rs201110322 0.00009
NM_006269.2(RP1):c.2905A>G (p.Met969Val) rs181497543 0.00009
NM_006269.2(RP1):c.3024G>A (p.Gln1008=) rs555160408 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.3999C>T (p.Tyr1333=) rs146602041 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.4131C>T (p.Asp1377=) rs538825686 0.00007
NM_006269.2(RP1):c.4269T>C (p.Cys1423=) rs540468439 0.00007
NM_006269.2(RP1):c.4308C>T (p.Ser1436=) rs190591946 0.00007
NM_006269.2(RP1):c.984C>T (p.Asp328=) rs776574526 0.00007
NM_006269.2(RP1):c.1595A>G (p.Glu532Gly) rs371028735 0.00006
NM_006269.2(RP1):c.1629T>C (p.Ser543=) rs746083306 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.315A>G (p.Leu105=) rs764145254 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.4665A>G (p.Gly1555=) rs929619376 0.00006
NM_006269.2(RP1):c.466C>T (p.Leu156=) rs568059775 0.00006
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg) rs113911625 0.00006
NM_006269.2(RP1):c.897C>T (p.Tyr299=) rs534494268 0.00006
NM_006269.2(RP1):c.1180A>G (p.Met394Val) rs763523179 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 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.2508G>A (p.Pro836=) rs763905641 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.324C>T (p.His108=) rs141074157 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.6210C>T (p.Asn2070=) rs767325122 0.00005
NM_006269.2(RP1):c.1136G>T (p.Gly379Val) rs573551979 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.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile) rs762382791 0.00004
NM_006269.2(RP1):c.2622G>A (p.Gly874=) rs369939931 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.3048T>C (p.Tyr1016=) rs763034533 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.3966C>T (p.Thr1322=) rs753573882 0.00003
NM_006269.2(RP1):c.4161G>A (p.Leu1387=) rs780607488 0.00003
NM_006269.2(RP1):c.4175A>G (p.Asn1392Ser) rs780518944 0.00003
NM_006269.2(RP1):c.4200C>T (p.Gly1400=) rs770815082 0.00003
NM_006269.2(RP1):c.424G>T (p.Val142Leu) rs367600337 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.474C>T (p.Val158=) rs1002516680 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006269.2(RP1):c.662C>T (p.Ala221Val) rs760561079 0.00003
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter) rs760689800 0.00002
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.1498_1499del (p.Met500fs) rs765129639 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.1756T>C (p.Leu586=) rs758592527 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.1986del (p.Lys663fs) rs754246929 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.2496T>C (p.Asp832=) rs751925476 0.00002
NM_006269.2(RP1):c.2521G>A (p.Glu841Lys) rs1472013734 0.00002
NM_006269.2(RP1):c.2556G>A (p.Lys852=) rs1385725559 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.2937C>T (p.Ala979=) rs201613551 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.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006269.2(RP1):c.3641C>T (p.Thr1214Met) rs368074316 0.00002
NM_006269.2(RP1):c.3774A>C (p.Pro1258=) rs779999712 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.429C>G (p.Ala143=) rs768070088 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.1037C>A (p.Thr346Asn) rs1167725394 0.00001
NM_006269.2(RP1):c.1083T>C (p.Asn361=) rs1235276964 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.1265dup (p.Ala423fs) rs770659908 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.1444C>T (p.Gln482Ter) rs1157925654 0.00001
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter) rs765035454 0.00001
NM_006269.2(RP1):c.1474G>A (p.Gly492Arg) rs561673450 0.00001
NM_006269.2(RP1):c.1555C>T (p.Gln519Ter) rs1554519459 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.1641T>G (p.Ala547=) rs374344876 0.00001
NM_006269.2(RP1):c.1659A>G (p.Thr553=) rs1230748428 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.1875T>C (p.Asn625=) rs1000583424 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.1998A>G (p.Ser666=) rs1806029711 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.2256G>A (p.Thr752=) rs748149366 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.2463T>C (p.His821=) rs780108007 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.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.2520A>G (p.Ala840=) rs368447697 0.00001
NM_006269.2(RP1):c.2529A>T (p.Ala843=) rs750369478 0.00001
NM_006269.2(RP1):c.2604C>T (p.Ser868=) rs372895901 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.2826G>A (p.Thr942=) rs1475880003 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.314T>C (p.Leu105Pro) rs760751066 0.00001
NM_006269.2(RP1):c.3199G>A (p.Ala1067Thr) rs866421606 0.00001
NM_006269.2(RP1):c.3216T>C (p.Asp1072=) rs926323176 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.3360A>C (p.Ala1120=) rs756863600 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.3756G>A (p.Leu1252=) rs763850510 0.00001
NM_006269.2(RP1):c.3786C>T (p.Cys1262=) rs1490877675 0.00001
NM_006269.2(RP1):c.3951A>G (p.Gln1317=) rs1380828230 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.4105C>T (p.Gln1369Ter) rs774428356 0.00001
NM_006269.2(RP1):c.4194C>G (p.Ser1398=) rs111678480 0.00001
NM_006269.2(RP1):c.4224A>G (p.Ala1408=) rs750721836 0.00001
NM_006269.2(RP1):c.4232A>G (p.Asp1411Gly) rs1481855221 0.00001
NM_006269.2(RP1):c.4275A>G (p.Leu1425=) rs369155601 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.4347C>G (p.Gly1449=) rs1321915339 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.4482C>A (p.Ile1494=) rs779152108 0.00001
NM_006269.2(RP1):c.4485A>G (p.Gln1495=) rs1372307817 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.4804C>T (p.Gln1602Ter) rs1359338583 0.00001
NM_006269.2(RP1):c.4812T>C (p.Tyr1604=) rs1248796772 0.00001
NM_006269.2(RP1):c.4835A>G (p.Asn1612Ser) rs372411580 0.00001
NM_006269.2(RP1):c.4845C>T (p.Gly1615=) rs751632799 0.00001
NM_006269.2(RP1):c.4853C>T (p.Thr1618Ile) rs375156216 0.00001
NM_006269.2(RP1):c.4863A>G (p.Lys1621=) rs1806156778 0.00001
NM_006269.2(RP1):c.50C>A (p.Ser17Tyr) rs751706452 0.00001
NM_006269.2(RP1):c.531C>T (p.Thr177=) rs774495291 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.6108C>T (p.Phe2036=) rs377546732 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.612G>A (p.Arg204=) rs374538807 0.00001
NM_006269.2(RP1):c.615+2T>A rs776027191 0.00001
NM_006269.2(RP1):c.616-7C>T rs779213123 0.00001
NM_006269.2(RP1):c.6286T>A (p.Phe2096Ile) rs773570888 0.00001
NM_006269.2(RP1):c.6312C>T (p.Cys2104=) rs759136487 0.00001
NM_006269.2(RP1):c.666A>C (p.Ala222=) rs750540431 0.00001
NM_006269.2(RP1):c.715C>G (p.Leu239Val) rs755182172 0.00001
NM_006269.2(RP1):c.72del (p.Arg25fs) rs921322180 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.788-2A>T rs1422250479 0.00001
NM_006269.2(RP1):c.795A>G (p.Thr265=) rs771635634 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.831T>C (p.Ser277=) rs368111010 0.00001
NM_006269.2(RP1):c.871G>C (p.Asp291His) rs767490081 0.00001
NM_006269.2(RP1):c.945T>C (p.Ser315=) rs1213317379 0.00001
NM_006269.2(RP1):c.991A>G (p.Met331Val) rs370586234 0.00001
NC_000008.10:g.(?_55537210)_(55542913_?)del
NM_001375654.1(RP1):c.1205A>T (p.Glu402Val)
NM_001375654.1(RP1):c.1459T>C (p.Tyr487His)
NM_001375654.1(RP1):c.3363G>A (p.Trp1121Ter)
NM_001375654.1(RP1):c.3750G>T (p.Glu1250Asp)
NM_006269.2(RP1):c.1007A>C (p.Lys336Thr)
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006269.2(RP1):c.1018A>G (p.Arg340Gly)
NM_006269.2(RP1):c.1019G>C (p.Arg340Thr)
NM_006269.2(RP1):c.1047G>A (p.Trp349Ter) rs1805986090
NM_006269.2(RP1):c.1055C>T (p.Thr352Ile)
NM_006269.2(RP1):c.1070G>A (p.Gly357Asp) rs1805986824
NM_006269.2(RP1):c.1074T>C (p.Pro358=)
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.1110A>G (p.Pro370=) rs2129315945
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.1137T>C (p.Gly379=) rs1373925871
NM_006269.2(RP1):c.1158A>T (p.Ser386=) rs765680798
NM_006269.2(RP1):c.1166C>A (p.Ala389Glu) rs2129315970
NM_006269.2(RP1):c.1172T>A (p.Val391Glu)
NM_006269.2(RP1):c.1173G>A (p.Val391=)
NM_006269.2(RP1):c.1180A>C (p.Met394Leu)
NM_006269.2(RP1):c.1180A>T (p.Met394Leu) rs763523179
NM_006269.2(RP1):c.1192A>G (p.Ser398Gly)
NM_006269.2(RP1):c.1199_1200del (p.Gln400fs)
NM_006269.2(RP1):c.1204G>A (p.Gly402Ser)
NM_006269.2(RP1):c.1205G>A (p.Gly402Asp)
NM_006269.2(RP1):c.1224A>G (p.Ile408Met) rs2129316000
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
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.1269T>A (p.Ala423=) rs2129316024
NM_006269.2(RP1):c.126G>C (p.Lys42Asn) rs1161761797
NM_006269.2(RP1):c.1273T>C (p.Trp425Arg)
NM_006269.2(RP1):c.1274_1301del (p.Trp425fs) rs2129316028
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr) rs1331133343
NM_006269.2(RP1):c.1296A>G (p.Thr432=) rs2129316038
NM_006269.2(RP1):c.1299_1306dup (p.Gln436fs)
NM_006269.2(RP1):c.1309G>A (p.Gly437Arg)
NM_006269.2(RP1):c.1313C>T (p.Thr438Ile) rs1451687014
NM_006269.2(RP1):c.1328del (p.Lys443fs)
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.1395C>T (p.Gly465=)
NM_006269.2(RP1):c.139dup (p.Gln47fs) rs751635650
NM_006269.2(RP1):c.1402A>T (p.Thr468Ser) rs1185602873
NM_006269.2(RP1):c.1404C>T (p.Thr468=)
NM_006269.2(RP1):c.1409T>C (p.Val470Ala)
NM_006269.2(RP1):c.1414G>A (p.Glu472Lys) rs1806003101
NM_006269.2(RP1):c.1419T>G (p.Thr473=) rs2129316092
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.143del (p.Phe48fs)
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.1462del (p.Glu488fs) rs878853327
NM_006269.2(RP1):c.1483A>C (p.Lys495Gln)
NM_006269.2(RP1):c.1492T>G (p.Tyr498Asp) rs2129316140
NM_006269.2(RP1):c.150G>A (p.Gly50=) rs2129314129
NM_006269.2(RP1):c.150_168delinsAGACCCCCAATT (p.Val51fs) rs2129314132
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.1527A>C (p.Ser509=) rs1554519455
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.1587A>C (p.Ser529=)
NM_006269.2(RP1):c.15T>C (p.Pro5=)
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.1617G>A (p.Leu539=)
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.1647T>G (p.Val549=)
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.168C>T (p.Asn56=) rs2129314152
NM_006269.2(RP1):c.1704A>C (p.Ser568=)
NM_006269.2(RP1):c.1706C>T (p.Thr569Ile) rs139471370
NM_006269.2(RP1):c.1719C>T (p.Asn573=)
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.1720_1721del (p.Ser574fs) rs2129316266
NM_006269.2(RP1):c.1732G>T (p.Glu578Ter) rs2129316272
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.1794T>G (p.Tyr598Ter)
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.1846dup (p.Ser616fs) rs2129316318
NM_006269.2(RP1):c.1888C>G (p.Pro630Ala)
NM_006269.2(RP1):c.188T>C (p.Phe63Ser) rs369919266
NM_006269.2(RP1):c.1890A>G (p.Pro630=) rs1585562850
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.1961del (p.Gly653_Leu654insTer)
NM_006269.2(RP1):c.1972C>T (p.Pro658Ser)
NM_006269.2(RP1):c.1974A>G (p.Pro658=)
NM_006269.2(RP1):c.1975A>T (p.Lys659Ter) rs1806028872
NM_006269.2(RP1):c.1980T>C (p.Asn660=)
NM_006269.2(RP1):c.1986G>A (p.Lys662=)
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.2015del (p.Lys672fs)
NM_006269.2(RP1):c.2015dup (p.Lys673fs) rs2129316376
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu) rs766341403
NM_006269.2(RP1):c.2017A>T (p.Lys673Ter) rs766341403
NM_006269.2(RP1):c.2018del (p.Lys673fs) rs2129316381
NM_006269.2(RP1):c.2024A>G (p.Lys675Arg) rs755107767
NM_006269.2(RP1):c.2025A>G (p.Lys675=) rs908032972
NM_006269.2(RP1):c.2025A>T (p.Lys675Asn) rs908032972
NM_006269.2(RP1):c.2025del (p.Lys675fs)
NM_006269.2(RP1):c.2025dup (p.Ser676fs) rs1365669334
NM_006269.2(RP1):c.2027C>G (p.Ser676Cys) rs767901469
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2030G>A (p.Arg677Gln) rs940904438
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.2037del (p.Ala680fs)
NM_006269.2(RP1):c.2041A>G (p.Ile681Val)
NM_006269.2(RP1):c.2042delinsAA (p.Ile681fs) rs1806031833
NM_006269.2(RP1):c.2047T>A (p.Ser683Thr) rs2129316399
NM_006269.2(RP1):c.2053del (p.Tyr685fs)
NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) rs1554519533
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.2071G>T (p.Ala691Ser) rs2129316411
NM_006269.2(RP1):c.2072del (p.Ala691fs) rs2129316413
NM_006269.2(RP1):c.2077A>T (p.Lys693Ter)
NM_006269.2(RP1):c.2087T>A (p.Leu696His) rs1467620845
NM_006269.2(RP1):c.2102G>A (p.Arg701Lys)
NM_006269.2(RP1):c.2103_2104insGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGAGAGA (p.Ile702delinsGlyTer) rs2129316422
NM_006269.2(RP1):c.2105_2106insG (p.Ile702fs) rs2129316431
NM_006269.2(RP1):c.2105_2108del (p.Ile702fs) rs1806033441
NM_006269.2(RP1):c.210G>T (p.Leu70Phe) rs1805851925
NM_006269.2(RP1):c.2110del (p.Thr704fs) rs1806033714
NM_006269.2(RP1):c.2120G>A (p.Arg707Lys) rs2129316439
NM_006269.2(RP1):c.2127A>C (p.Thr709=) rs768555974
NM_006269.2(RP1):c.2138T>C (p.Ile713Thr) rs2129316444
NM_006269.2(RP1):c.2150del (p.Asp716_Ser717insTer)
NM_006269.2(RP1):c.2156G>C (p.Ser719Thr)
NM_006269.2(RP1):c.2157_2256del (p.Ser719fs)
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.216del (p.Lys73fs)
NM_006269.2(RP1):c.2170G>A (p.Gly724Arg)
NM_006269.2(RP1):c.2172G>C (p.Gly724=)
NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) rs1554519546
NM_006269.2(RP1):c.2173_2174delinsG (p.Ile725fs) rs2129316468
NM_006269.2(RP1):c.2173dup (p.Ile725fs) rs2129316466
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter) rs1585563328
NM_006269.2(RP1):c.2184G>C (p.Glu728Asp) rs2129316474
NM_006269.2(RP1):c.2185del (p.Glu729fs)
NM_006269.2(RP1):c.2194C>T (p.Gln732Ter) rs2129316479
NM_006269.2(RP1):c.21T>C (p.Thr7=)
NM_006269.2(RP1):c.2200del (p.Ser734fs) rs1806036718
NM_006269.2(RP1):c.2206dup (p.Thr736fs) rs1554519554
NM_006269.2(RP1):c.220G>A (p.Val74Met)
NM_006269.2(RP1):c.2210T>C (p.Val737Ala) rs2129316489
NM_006269.2(RP1):c.2215G>T (p.Glu739Ter) rs2129316492
NM_006269.2(RP1):c.2219C>A (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2226T>G (p.Thr742=) rs1585563394
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.2272del (p.His758fs) rs2129316517
NM_006269.2(RP1):c.2273A>G (p.His758Arg)
NM_006269.2(RP1):c.2281A>C (p.Lys761Gln)
NM_006269.2(RP1):c.2285T>A (p.Leu762Ter) rs2129316527
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2293A>C (p.Thr765Pro)
NM_006269.2(RP1):c.2296C>A (p.Gln766Lys)
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter) rs775731489
NM_006269.2(RP1):c.2303C>T (p.Ser768Phe) rs1162608680
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter) rs1488237523
NM_006269.2(RP1):c.2307G>C (p.Lys769Asn) rs2129316544
NM_006269.2(RP1):c.2310T>G (p.Val770=)
NM_006269.2(RP1):c.2310del (p.Gln771fs) rs1806040543
NM_006269.2(RP1):c.2314G>C (p.Gly772Arg) rs1806040688
NM_006269.2(RP1):c.2321T>G (p.Leu774Ter) rs1260291101
NM_006269.2(RP1):c.2323del (p.Thr775fs) rs2129316559
NM_006269.2(RP1):c.2332A>T (p.Lys778Ter) rs1806041389
NM_006269.2(RP1):c.2334del (p.Lys778fs) rs2129316562
NM_006269.2(RP1):c.2334dup (p.Ser779fs)
NM_006269.2(RP1):c.2338A>G (p.Arg780Gly)
NM_006269.2(RP1):c.2342C>A (p.Ser781Ter) rs1293654827
NM_006269.2(RP1):c.2342C>T (p.Ser781Leu)
NM_006269.2(RP1):c.2343A>G (p.Ser781=) rs2129316567
NM_006269.2(RP1):c.2348dup (p.Asn783fs) rs1806042579
NM_006269.2(RP1):c.2351_2356del (p.Lys784_Ile785del) rs2129316576
NM_006269.2(RP1):c.2352_2356del (p.Ile785fs) rs2129316571
NM_006269.2(RP1):c.2356A>G (p.Ser786Gly) rs2129316579
NM_006269.2(RP1):c.2363G>A (p.Gly788Glu)
NM_006269.2(RP1):c.2364A>C (p.Gly788=) rs747841240
NM_006269.2(RP1):c.2364A>G (p.Gly788=)
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) rs1365908727
NM_006269.2(RP1):c.2378G>A (p.Arg793Lys)
NM_006269.2(RP1):c.2380G>T (p.Glu794Ter)
NM_006269.2(RP1):c.2391_2392del (p.Arg798_Asp799insTer)
NM_006269.2(RP1):c.2397T>G (p.Asp799Glu) rs762140861
NM_006269.2(RP1):c.2398A>T (p.Lys800Ter)
NM_006269.2(RP1):c.2412C>A (p.His804Gln)
NM_006269.2(RP1):c.2430C>A (p.Cys810Ter) rs1230883512
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.243G>A (p.Arg81=) rs985225428
NM_006269.2(RP1):c.2453G>T (p.Ser818Ile) rs2129316643
NM_006269.2(RP1):c.2456del (p.Leu819fs)
NM_006269.2(RP1):c.2473_2474delinsTA (p.Ile825Tyr)
NM_006269.2(RP1):c.2478T>C (p.Leu826=) rs779118436
NM_006269.2(RP1):c.2482C>T (p.Gln828Ter)
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.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.2555del (p.Lys852fs)
NM_006269.2(RP1):c.2564del (p.Ser854_Leu855insTer) rs1434495676
NM_006269.2(RP1):c.2570C>G (p.Ser857Ter) rs1057524016
NM_006269.2(RP1):c.2574del (p.Val859fs)
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) rs1585563965
NM_006269.2(RP1):c.2591_2592del (p.Ile864fs)
NM_006269.2(RP1):c.2591_2600del (p.Ile864fs)
NM_006269.2(RP1):c.2593A>T (p.Thr865Ser) rs2129316709
NM_006269.2(RP1):c.2596T>G (p.Leu866Val)
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) rs1554519635
NM_006269.2(RP1):c.259del (p.Arg87fs)
NM_006269.2(RP1):c.2600A>G (p.Lys867Arg) rs2129316715
NM_006269.2(RP1):c.2607del (p.Lys871fs) rs2129316716
NM_006269.2(RP1):c.2608A>C (p.Lys870Gln)
NM_006269.2(RP1):c.260G>C (p.Arg87Pro)
NM_006269.2(RP1):c.2611_2612insGAGAAAAGCAAAATGTCTATTCCGGTCTATTGCCTATTTTTTGAATTTGGATTTTGGTTTTCTTGCTATTGAGTTGTTTGAGTTCCTTATATATTTTGAGTAATAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAAGCCAGAAAA (p.Lys871delinsArgGluLysGlnAsnValTyrSerGlyLeuLeuProIlePheTer) rs2129316713
NM_006269.2(RP1):c.2613A>T (p.Lys871Asn)
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2624A>G (p.Asp875Gly)
NM_006269.2(RP1):c.2626A>T (p.Lys876Ter)
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.2671del (p.Arg891fs) rs1806057300
NM_006269.2(RP1):c.2676A>G (p.Ala892=) rs2129316768
NM_006269.2(RP1):c.2678del (p.Asn893fs) rs1806057524
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.270del (p.His90fs) rs1805854701
NM_006269.2(RP1):c.2716G>C (p.Ala906Pro)
NM_006269.2(RP1):c.2716G>T (p.Ala906Ser)
NM_006269.2(RP1):c.271del (p.Ser91fs) rs1805854944
NM_006269.2(RP1):c.2732C>G (p.Ser911Ter) rs1348591614
NM_006269.2(RP1):c.2745delinsAA (p.Tyr915Ter) rs1554519662
NM_006269.2(RP1):c.2747_2763del (p.Ile916fs) rs2129316820
NM_006269.2(RP1):c.2748A>G (p.Ile916Met) rs1806060299
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.2756G>T (p.Trp919Leu)
NM_006269.2(RP1):c.2766C>A (p.Asn922Lys)
NM_006269.2(RP1):c.2766del (p.Asn922fs) rs1806061474
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.2780del (p.Pro927fs) rs2129316850
NM_006269.2(RP1):c.2792C>G (p.Pro931Arg)
NM_006269.2(RP1):c.2801C>G (p.Ser934Ter)
NM_006269.2(RP1):c.2805T>A (p.Ala935=) rs1441133432
NM_006269.2(RP1):c.2811A>G (p.Val937=)
NM_006269.2(RP1):c.282C>G (p.Arg94=)
NM_006269.2(RP1):c.283C>T (p.Leu95=)
NM_006269.2(RP1):c.284T>C (p.Leu95Pro)
NM_006269.2(RP1):c.284dup (p.Glu96fs) rs1805856024
NM_006269.2(RP1):c.2866_2876del (p.Asp956fs) rs2129316890
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.2918del (p.Lys973fs) rs2129316919
NM_006269.2(RP1):c.2925A>G (p.Ile975Met)
NM_006269.2(RP1):c.2928T>A (p.Thr976=)
NM_006269.2(RP1):c.292C>G (p.Leu98Val) rs1805856546
NM_006269.2(RP1):c.294_302del (p.Asp100_Glu102del) rs2129314243
NM_006269.2(RP1):c.2953_2956del (p.Asn985fs) rs1806069993
NM_006269.2(RP1):c.2956C>T (p.Leu986=)
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
NM_006269.2(RP1):c.2963A>C (p.Lys988Thr)
NM_006269.2(RP1):c.2968G>T (p.Gly990Ter)
NM_006269.2(RP1):c.297G>A (p.Glu99=)
NM_006269.2(RP1):c.3006A>G (p.Glu1002=) rs1585564799
NM_006269.2(RP1):c.3008A>G (p.Asp1003Gly) rs1806073071
NM_006269.2(RP1):c.300C>T (p.Asp100=)
NM_006269.2(RP1):c.3014A>G (p.His1005Arg)
NM_006269.2(RP1):c.3018G>A (p.Glu1006=) rs759554556
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.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.3077del (p.Leu1026fs)
NM_006269.2(RP1):c.3093_3102del (p.Asn1032fs)
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.3117T>C (p.His1039=)
NM_006269.2(RP1):c.3119T>C (p.Ile1040Thr) rs1251985216
NM_006269.2(RP1):c.312_315del (p.Leu105fs) rs1805857731
NM_006269.2(RP1):c.3134C>G (p.Ser1045Ter) rs1806079109
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.3159C>T (p.Tyr1053=)
NM_006269.2(RP1):c.315A>C (p.Leu105=) rs764145254
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.3180A>G (p.Arg1060=)
NM_006269.2(RP1):c.3185G>T (p.Arg1062Met) rs2129317028
NM_006269.2(RP1):c.318T>C (p.Cys106=)
NM_006269.2(RP1):c.3193G>T (p.Val1065Leu)
NM_006269.2(RP1):c.3195A>G (p.Val1065=)
NM_006269.2(RP1):c.3213A>G (p.Val1071=) rs2129317040
NM_006269.2(RP1):c.3215A>G (p.Asp1072Gly)
NM_006269.2(RP1):c.3215A>T (p.Asp1072Val)
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.3255C>A (p.Val1085=) rs145907351
NM_006269.2(RP1):c.3269A>G (p.Gln1090Arg)
NM_006269.2(RP1):c.328A>G (p.Arg110Gly) rs1805859214
NM_006269.2(RP1):c.3316G>T (p.Val1106Phe)
NM_006269.2(RP1):c.3317T>A (p.Val1106Asp) rs1043235694
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.3377C>T (p.Thr1126Ile)
NM_006269.2(RP1):c.3384C>T (p.Leu1128=) rs138461381
NM_006269.2(RP1):c.3388C>T (p.Leu1130=) rs2129317106
NM_006269.2(RP1):c.3397C>A (p.Leu1133Ile)
NM_006269.2(RP1):c.3398T>G (p.Leu1133Arg)
NM_006269.2(RP1):c.339G>A (p.Gln113=) rs1805859577
NM_006269.2(RP1):c.3416del (p.Lys1139fs)
NM_006269.2(RP1):c.3419G>A (p.Gly1140Glu) rs1025535519
NM_006269.2(RP1):c.3419del (p.Gly1140fs) rs1806088386
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.3492G>A (p.Leu1164=) rs2129317154
NM_006269.2(RP1):c.3515T>C (p.Ile1172Thr)
NM_006269.2(RP1):c.3535T>C (p.Leu1179=) rs778979885
NM_006269.2(RP1):c.3544G>A (p.Ala1182Thr)
NM_006269.2(RP1):c.354C>G (p.Asp118Glu)
NM_006269.2(RP1):c.3591T>C (p.Ser1197=)
NM_006269.2(RP1):c.35T>C (p.Ile12Thr)
NM_006269.2(RP1):c.3600A>G (p.Glu1200=) rs909711479
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.3615A>G (p.Pro1205=)
NM_006269.2(RP1):c.361dup (p.Arg121fs)
NM_006269.2(RP1):c.3625T>C (p.Ser1209Pro) rs1806099628
NM_006269.2(RP1):c.3632del (p.Asn1211fs) rs1806099964
NM_006269.2(RP1):c.3639_3652del (p.Thr1214fs) rs1563331663
NM_006269.2(RP1):c.3640A>T (p.Thr1214Ser)
NM_006269.2(RP1):c.3642G>A (p.Thr1214=) rs371229971
NM_006269.2(RP1):c.3649A>G (p.Ile1217Val) rs1043368323
NM_006269.2(RP1):c.3654G>A (p.Gln1218=) rs2129317229
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.3672T>C (p.Ser1224=)
NM_006269.2(RP1):c.3687A>G (p.Thr1229=)
NM_006269.2(RP1):c.368_369dup (p.Pro124fs) rs1246397238
NM_006269.2(RP1):c.3690A>G (p.Gln1230=)
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.369C>T (p.Arg123=) rs749045018
NM_006269.2(RP1):c.3700T>A (p.Ser1234Thr) rs552178472
NM_006269.2(RP1):c.3720T>C (p.Ser1240=) rs2129317260
NM_006269.2(RP1):c.3728_3729del (p.Glu1243fs) rs2129317263
NM_006269.2(RP1):c.3729G>A (p.Glu1243=) rs1806106438
NM_006269.2(RP1):c.3734del (p.Cys1245fs) rs1563331742
NM_006269.2(RP1):c.373C>G (p.Arg125Gly) rs770787145
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.3790_3791del (p.Val1264fs)
NM_006269.2(RP1):c.3797del (p.Lys1266fs) rs2129317292
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.3827C>T (p.Pro1276Leu) rs1806110455
NM_006269.2(RP1):c.3830G>A (p.Ser1277Asn)
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006269.2(RP1):c.3846T>A (p.Pro1282=)
NM_006269.2(RP1):c.3852T>C (p.Asp1284=)
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.3946_3947delinsTT (p.Ala1316Phe) rs2129317380
NM_006269.2(RP1):c.3949C>T (p.Gln1317Ter) rs2129317387
NM_006269.2(RP1):c.3956A>G (p.Glu1319Gly)
NM_006269.2(RP1):c.3960C>T (p.Asn1320=)
NM_006269.2(RP1):c.3972G>A (p.Glu1324=)
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.405G>A (p.Ala135=)
NM_006269.2(RP1):c.4062T>C (p.Asp1354=) rs768149034
NM_006269.2(RP1):c.4077T>G (p.Thr1359=) rs780936508
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.4094del (p.Gly1365fs) rs1806120012
NM_006269.2(RP1):c.4096G>C (p.Asp1366His)
NM_006269.2(RP1):c.4101_4102insGGCAGACTGCGGCGGCGGTGGTCTGAGGAAGTTCTATCTTGGCGCTAAAGCGGAGACGCATCCCCCGACCCGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGGTGATGAC (p.Ile1368delinsGlyArgLeuArgArgArgTrpSerGluGluValLeuSerTrpArgTer)
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.4140T>C (p.Tyr1380=)
NM_006269.2(RP1):c.4155T>C (p.Asn1385=)
NM_006269.2(RP1):c.4171del (p.Gln1391fs) rs2129317503
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.4196del (p.Cys1399fs) rs762951570
NM_006269.2(RP1):c.4207C>T (p.Leu1403=)
NM_006269.2(RP1):c.4212del (p.Ser1404fs) rs1806128079
NM_006269.2(RP1):c.4222G>A (p.Ala1408Thr) rs1806128798
NM_006269.2(RP1):c.4231G>T (p.Asp1411Tyr) rs1806129380
NM_006269.2(RP1):c.4239A>C (p.Lys1413Asn)
NM_006269.2(RP1):c.423C>A (p.Pro141=)
NM_006269.2(RP1):c.423C>G (p.Pro141=) rs766819017
NM_006269.2(RP1):c.4242_4243del (p.His1414fs) rs767436678
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.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.429del (p.Val144fs) rs1805867082
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.4323A>G (p.Glu1441=)
NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp) rs373109791
NM_006269.2(RP1):c.432C>G (p.Val144=)
NM_006269.2(RP1):c.4335T>C (p.Ser1445=)
NM_006269.2(RP1):c.4337A>G (p.Glu1446Gly)
NM_006269.2(RP1):c.436G>C (p.Ala146Pro) rs1805867883
NM_006269.2(RP1):c.4370C>G (p.Ser1457Ter)
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.4404T>C (p.Phe1468=)
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.4419C>T (p.Asn1473=) rs767898825
NM_006269.2(RP1):c.441C>G (p.Pro147=)
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.4470T>C (p.Thr1490=)
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.4503T>C (p.Ser1501=)
NM_006269.2(RP1):c.4506A>G (p.Lys1502=)
NM_006269.2(RP1):c.4533T>G (p.Ser1511Arg)
NM_006269.2(RP1):c.4534A>G (p.Lys1512Glu)
NM_006269.2(RP1):c.4555del (p.Arg1519fs) rs794727640
NM_006269.2(RP1):c.4571_4589del (p.Ile1524fs)
NM_006269.2(RP1):c.4577A>G (p.Glu1526Gly)
NM_006269.2(RP1):c.4582_4585del (p.Ile1528fs) rs1200229021
NM_006269.2(RP1):c.4586G>C (p.Ser1529Thr)
NM_006269.2(RP1):c.4587_4590del (p.Ser1529fs) rs766674210
NM_006269.2(RP1):c.458dup (p.Arg154fs) rs781249059
NM_006269.2(RP1):c.4593G>T (p.Arg1531Ser)
NM_006269.2(RP1):c.4594C>G (p.Leu1532Val)
NM_006269.2(RP1):c.4594C>T (p.Leu1532=)
NM_006269.2(RP1):c.45G>A (p.Thr15=)
NM_006269.2(RP1):c.4611T>G (p.Ser1537=)
NM_006269.2(RP1):c.4632del (p.Lys1545fs)
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.4671T>A (p.Thr1557=)
NM_006269.2(RP1):c.4679del (p.Val1560fs)
NM_006269.2(RP1):c.4680_4691del (p.Met1562_Lys1565del)
NM_006269.2(RP1):c.4681A>C (p.Lys1561Gln)
NM_006269.2(RP1):c.4686G>A (p.Met1562Ile)
NM_006269.2(RP1):c.4687A>T (p.Met1563Leu)
NM_006269.2(RP1):c.469del (p.Val157fs) rs2129314417
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.4709del (p.Gly1570fs) rs2129317773
NM_006269.2(RP1):c.470T>A (p.Val157Glu) rs771020312
NM_006269.2(RP1):c.4742A>G (p.Lys1581Arg) rs766323335
NM_006269.2(RP1):c.4743dup (p.Cys1582fs) rs886041040
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.4772G>A (p.Trp1591Ter)
NM_006269.2(RP1):c.477C>A (p.Phe159Leu) rs1805871215
NM_006269.2(RP1):c.4788T>C (p.Pro1596=) rs2129317825
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.490C>G (p.Pro164Ala)
NM_006269.2(RP1):c.491C>G (p.Pro164Arg) rs148346976
NM_006269.2(RP1):c.491del (p.Pro164fs) rs2129314434
NM_006269.2(RP1):c.492G>A (p.Pro164=)
NM_006269.2(RP1):c.495G>T (p.Lys165Asn) rs1186642498
NM_006269.2(RP1):c.498G>A (p.Thr166=) rs267601947
NM_006269.2(RP1):c.506C>A (p.Ala169Glu) rs747000732
NM_006269.2(RP1):c.513del (p.Leu171_Leu172insTer) rs2129314450
NM_006269.2(RP1):c.515T>C (p.Leu172Pro)
NM_006269.2(RP1):c.529A>G (p.Thr177Ala) rs1805874590
NM_006269.2(RP1):c.531C>A (p.Thr177=) rs774495291
NM_006269.2(RP1):c.532C>T (p.Gln178Ter) rs2129314462
NM_006269.2(RP1):c.542A>G (p.Glu181Gly)
NM_006269.2(RP1):c.546A>G (p.Ala182=) rs1805875705
NM_006269.2(RP1):c.557A>C (p.His186Pro)
NM_006269.2(RP1):c.559C>T (p.Leu187=) rs1194758104
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.584T>C (p.Val195Ala)
NM_006269.2(RP1):c.593T>C (p.Leu198Pro)
NM_006269.2(RP1):c.597C>G (p.Tyr199Ter) rs748104371
NM_006269.2(RP1):c.597C>T (p.Tyr199=)
NM_006269.2(RP1):c.600T>C (p.Ala200=)
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006269.2(RP1):c.606C>T (p.Asp202=) rs1805879513
NM_006269.2(RP1):c.607G>A (p.Gly203Arg) rs786205589
NM_006269.2(RP1):c.6091_6092delinsTA (p.Arg2031Ter) rs1806205612
NM_006269.2(RP1):c.6095T>A (p.Phe2032Tyr) rs1806205897
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
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.6122dup (p.Leu2041fs)
NM_006269.2(RP1):c.6125T>C (p.Leu2042Ser) rs1806207230
NM_006269.2(RP1):c.6125del (p.Leu2041_Leu2042insTer) rs1806207146
NM_006269.2(RP1):c.6138T>C (p.Asn2046=)
NM_006269.2(RP1):c.6146C>A (p.Ser2049Ter) rs2129318565
NM_006269.2(RP1):c.6149A>G (p.Asn2050Ser) rs1255944226
NM_006269.2(RP1):c.615+18T>C
NM_006269.2(RP1):c.615+20C>T
NM_006269.2(RP1):c.615+3G>T rs199632605
NM_006269.2(RP1):c.615+7G>A
NM_006269.2(RP1):c.6154C>T (p.Gln2052Ter) rs2129318575
NM_006269.2(RP1):c.616-15T>C
NM_006269.2(RP1):c.616-17A>G
NM_006269.2(RP1):c.616-20A>G
NM_006269.2(RP1):c.616-9C>A rs2129314727
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.6181del (p.Ile2061fs) rs775367880
NM_006269.2(RP1):c.6182del (p.Ile2061fs)
NM_006269.2(RP1):c.6190G>T (p.Ala2064Ser)
NM_006269.2(RP1):c.6195C>T (p.Val2065=) rs576244844
NM_006269.2(RP1):c.6198_6200del (p.Asp2066del) rs1806210601
NM_006269.2(RP1):c.6207C>T (p.Asn2069=)
NM_006269.2(RP1):c.6273C>A (p.Ile2091=) rs1585569792
NM_006269.2(RP1):c.6278_6279delinsTC (p.Cys2093Phe)
NM_006269.2(RP1):c.6279T>C (p.Cys2093=) rs113609041
NM_006269.2(RP1):c.6295A>G (p.Met2099Val)
NM_006269.2(RP1):c.6298C>T (p.Leu2100Phe) rs763216053
NM_006269.2(RP1):c.629dup (p.Ala211fs)
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.6338CCT[1] (p.Ser2114del) rs749093680
NM_006269.2(RP1):c.6342C>A (p.Ser2114=) rs2129318667
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.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.6405T>A (p.Ile2135=)
NM_006269.2(RP1):c.6407G>T (p.Trp2136Leu) rs1806218567
NM_006269.2(RP1):c.6412G>T (p.Glu2138Ter)
NM_006269.2(RP1):c.6414G>A (p.Glu2138=) rs2129318722
NM_006269.2(RP1):c.6421A>G (p.Ile2141Val) rs907744519
NM_006269.2(RP1):c.6423dup (p.Leu2142fs) rs1563333973
NM_006269.2(RP1):c.6424T>C (p.Leu2142=) rs2129318727
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.659T>G (p.Val220Gly) rs2129314757
NM_006269.2(RP1):c.663G>A (p.Ala221=)
NM_006269.2(RP1):c.664G>A (p.Ala222Thr)
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479
NM_006269.2(RP1):c.67C>T (p.Pro23Ser)
NM_006269.2(RP1):c.683A>T (p.Lys228Ile) rs1805901267
NM_006269.2(RP1):c.686del (p.Pro229fs)
NM_006269.2(RP1):c.696T>G (p.Tyr232Ter) rs1165961011
NM_006269.2(RP1):c.69C>T (p.Pro23=)
NM_006269.2(RP1):c.704A>G (p.Gln235Arg)
NM_006269.2(RP1):c.711C>T (p.Tyr237=) rs751781610
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.71dup (p.Arg25fs)
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.742C>T (p.Gln248Ter) rs769156393
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.761G>T (p.Gly254Val)
NM_006269.2(RP1):c.786G>A (p.Lys262=) rs113763758
NM_006269.2(RP1):c.787+13_787+15del rs1805904144
NM_006269.2(RP1):c.787+20A>G rs2129314827
NM_006269.2(RP1):c.787+4A>C
NM_006269.2(RP1):c.787+5G>A
NM_006269.2(RP1):c.787+7C>A
NM_006269.2(RP1):c.788-1G>A
NM_006269.2(RP1):c.788-2_790del rs779627969
NM_006269.2(RP1):c.799_800del (p.Met267fs) rs1805978316
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.830_831del (p.Ser277fs) rs1585561400
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.872A>G (p.Asp291Gly)
NM_006269.2(RP1):c.879T>A (p.Ser293=)
NM_006269.2(RP1):c.886C>G (p.Pro296Ala)
NM_006269.2(RP1):c.951T>A (p.Asp317Glu) rs1805982801
NM_006269.2(RP1):c.968T>C (p.Ile323Thr)
NM_006269.2(RP1):c.970A>G (p.Ile324Val)
NM_006269.2(RP1):c.972T>C (p.Ile324=) rs1328526581
NM_006269.2(RP1):c.981A>G (p.Gln327=) rs1442014451
NM_006269.2(RP1):c.986G>T (p.Gly329Val) rs1229278794
Single allele

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