NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly)
|
rs765224300
|
0.29559
|
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly)
|
rs751314374
|
0.00844
|
NM_001034853.2(RPGR):c.1414+5C>T
|
rs367627674
|
0.00039
|
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)
|
rs202156474
|
0.00037
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
NM_001034853.2(RPGR):c.1059+363G>A
|
rs1410177435
|
0.00010
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
NM_001034853.2(RPGR):c.1245+6A>G
|
rs886038281
|
0.00005
|
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu)
|
rs765979499
|
0.00004
|
NM_001034853.2(RPGR):c.1508C>G (p.Thr503Arg)
|
rs374555833
|
0.00004
|
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala)
|
rs769641256
|
0.00003
|
NM_001034853.2(RPGR):c.1309C>T (p.Leu437Phe)
|
rs531930581
|
0.00002
|
NM_001034853.2(RPGR):c.32C>T (p.Ser11Leu)
|
rs143975950
|
0.00002
|
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg)
|
rs771616566
|
0.00002
|
NM_000328.3(RPGR):c.2337C>G (p.Ile779Met)
|
rs1342166642
|
0.00001
|
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe)
|
rs62638628
|
0.00001
|
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)
|
rs794727019
|
0.00001
|
NM_001034853.2(RPGR):c.1506+6G>C
|
rs1464455035
|
0.00001
|
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn)
|
rs1159969109
|
0.00001
|
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly)
|
rs1222240619
|
0.00001
|
NM_001034853.2(RPGR):c.1777G>A (p.Ala593Thr)
|
rs1490761121
|
0.00001
|
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg)
|
rs749852225
|
0.00001
|
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)
|
rs1364555173
|
0.00001
|
NM_001034853.2(RPGR):c.3151G>A (p.Glu1051Lys)
|
rs1235791633
|
0.00001
|
NM_001034853.2(RPGR):c.746C>T (p.Ala249Val)
|
rs1251721610
|
0.00001
|
NM_001034853.2(RPGR):c.82G>A (p.Gly28Ser)
|
rs779957555
|
0.00001
|
NC_000023.10:g.(?_38146328)_(38150297_?)del
|
|
|
NC_000023.10:g.(?_38169848)_(38182797_?)dup
|
|
|
NC_000023.11:g.(?_38269606)_(38269852_?)dup
|
|
|
NC_000023.11:g.(?_38269606)_(38310793_?)dup
|
|
|
NM_000328.2(RPGR):c.-168-?_*456+?dup
|
|
|
NM_000328.3(RPGR):c.1906-12A>G
|
|
|
NM_000328.3(RPGR):c.1949T>C (p.Val650Ala)
|
|
|
NM_000328.3(RPGR):c.1996G>C (p.Val666Leu)
|
rs2147169038
|
|
NM_000328.3(RPGR):c.1999G>A (p.Gly667Arg)
|
|
|
NM_000328.3(RPGR):c.2009A>G (p.Glu670Gly)
|
|
|
NM_000328.3(RPGR):c.2012G>A (p.Ser671Asn)
|
|
|
NM_000328.3(RPGR):c.2023G>A (p.Gly675Ser)
|
|
|
NM_000328.3(RPGR):c.2072C>T (p.Ser691Leu)
|
|
|
NM_000328.3(RPGR):c.2087A>G (p.Glu696Gly)
|
|
|
NM_000328.3(RPGR):c.2102C>T (p.Ala701Val)
|
|
|
NM_000328.3(RPGR):c.2117G>A (p.Arg706Gln)
|
|
|
NM_000328.3(RPGR):c.2120C>T (p.Ala707Val)
|
|
|
NM_000328.3(RPGR):c.2135A>G (p.Asn712Ser)
|
|
|
NM_000328.3(RPGR):c.2149+4T>G
|
rs945212131
|
|
NM_000328.3(RPGR):c.2150-7A>G
|
|
|
NM_000328.3(RPGR):c.2156T>G (p.Met719Arg)
|
rs1399519309
|
|
NM_000328.3(RPGR):c.2224A>G (p.Met742Val)
|
|
|
NM_000328.3(RPGR):c.2241+11_2241+12delinsCC
|
|
|
NM_000328.3(RPGR):c.2241+5G>A
|
|
|
NM_000328.3(RPGR):c.2241G>A (p.Lys747=)
|
|
|
NM_000328.3(RPGR):c.2242A>G (p.Ile748Val)
|
|
|
NM_000328.3(RPGR):c.2336T>C (p.Ile779Thr)
|
|
|
NM_000328.3(RPGR):c.2339T>C (p.Ile780Thr)
|
|
|
NM_000328.3(RPGR):c.2339T>G (p.Ile780Ser)
|
|
|
NM_001034853.2(RPGR):c.1001T>C (p.Phe334Ser)
|
|
|
NM_001034853.2(RPGR):c.1007A>G (p.Asn336Ser)
|
|
|
NM_001034853.2(RPGR):c.1019C>A (p.Pro340His)
|
|
|
NM_001034853.2(RPGR):c.107T>C (p.Val36Ala)
|
|
|
NM_001034853.2(RPGR):c.1097CTC[1] (p.Pro367del)
|
rs1357261084
|
|
NM_001034853.2(RPGR):c.1099C>T (p.Pro367Ser)
|
|
|
NM_001034853.2(RPGR):c.109C>T (p.Pro37Ser)
|
|
|
NM_001034853.2(RPGR):c.1123A>G (p.Ile375Val)
|
|
|
NM_001034853.2(RPGR):c.1132G>A (p.Asp378Asn)
|
rs866428513
|
|
NM_001034853.2(RPGR):c.1147A>T (p.Thr383Ser)
|
|
|
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
|
|
|
NM_001034853.2(RPGR):c.1201G>T (p.Val401Leu)
|
|
|
NM_001034853.2(RPGR):c.1208A>G (p.Gln403Arg)
|
|
|
NM_001034853.2(RPGR):c.1220C>T (p.Ser407Leu)
|
|
|
NM_001034853.2(RPGR):c.1226G>A (p.Arg409His)
|
|
|
NM_001034853.2(RPGR):c.1235G>A (p.Arg412Gln)
|
|
|
NM_001034853.2(RPGR):c.1238G>A (p.Arg413Lys)
|
|
|
NM_001034853.2(RPGR):c.1245G>A (p.Arg415=)
|
|
|
NM_001034853.2(RPGR):c.1246-10T>C
|
|
|
NM_001034853.2(RPGR):c.1246-3A>G
|
|
|
NM_001034853.2(RPGR):c.1256C>A (p.Pro419Gln)
|
|
|
NM_001034853.2(RPGR):c.125G>A (p.Cys42Tyr)
|
|
|
NM_001034853.2(RPGR):c.125G>T (p.Cys42Phe)
|
|
|
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu)
|
rs2067408372
|
|
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu)
|
rs62638630
|
|
NM_001034853.2(RPGR):c.1320T>C (p.Cys440=)
|
|
|
NM_001034853.2(RPGR):c.1331A>G (p.Asn444Ser)
|
rs756926974
|
|
NM_001034853.2(RPGR):c.134A>T (p.Glu45Val)
|
rs2147291597
|
|
NM_001034853.2(RPGR):c.1381T>C (p.Ser461Pro)
|
|
|
NM_001034853.2(RPGR):c.1393C>G (p.Leu465Val)
|
|
|
NM_001034853.2(RPGR):c.1396A>G (p.Met466Val)
|
|
|
NM_001034853.2(RPGR):c.1398G>A (p.Met466Ile)
|
rs1237734243
|
|
NM_001034853.2(RPGR):c.1415-3C>G
|
|
|
NM_001034853.2(RPGR):c.1445C>T (p.Ala482Val)
|
|
|
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
|
NM_001034853.2(RPGR):c.1484A>G (p.Glu495Gly)
|
|
|
NM_001034853.2(RPGR):c.1486A>C (p.Thr496Pro)
|
|
|
NM_001034853.2(RPGR):c.1490C>T (p.Thr497Ile)
|
rs2067277205
|
|
NM_001034853.2(RPGR):c.1493A>G (p.Asp498Gly)
|
|
|
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe)
|
|
|
NM_001034853.2(RPGR):c.1505T>C (p.Met502Thr)
|
|
|
NM_001034853.2(RPGR):c.1506+3A>G
|
rs2147212763
|
|
NM_001034853.2(RPGR):c.1519A>G (p.Ser507Gly)
|
|
|
NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
|
|
|
NM_001034853.2(RPGR):c.1532A>T (p.Asn511Ile)
|
|
|
NM_001034853.2(RPGR):c.1572+6del
|
|
|
NM_001034853.2(RPGR):c.1573-18_1573-15del
|
|
|
NM_001034853.2(RPGR):c.1573-3C>G
|
rs1601926845
|
|
NM_001034853.2(RPGR):c.1586T>A (p.Ile529Asn)
|
|
|
NM_001034853.2(RPGR):c.158A>G (p.Asn53Ser)
|
|
|
NM_001034853.2(RPGR):c.1595T>G (p.Leu532Arg)
|
rs2147203710
|
|
NM_001034853.2(RPGR):c.1597A>G (p.Thr533Ala)
|
|
|
NM_001034853.2(RPGR):c.1600C>G (p.Gln534Glu)
|
|
|
NM_001034853.2(RPGR):c.1650G>A (p.Met550Ile)
|
|
|
NM_001034853.2(RPGR):c.1657A>G (p.Met553Val)
|
|
|
NM_001034853.2(RPGR):c.1680ACA[1] (p.Gln561del)
|
rs1208778002
|
|
NM_001034853.2(RPGR):c.1686T>G (p.His562Gln)
|
|
|
NM_001034853.2(RPGR):c.1693C>G (p.Gln565Glu)
|
|
|
NM_001034853.2(RPGR):c.1707G>T (p.Met569Ile)
|
|
|
NM_001034853.2(RPGR):c.1749A>G (p.Glu583=)
|
rs1060501179
|
|
NM_001034853.2(RPGR):c.1754-2dup
|
rs2067203496
|
|
NM_001034853.2(RPGR):c.1754-3C>G
|
rs2147201026
|
|
NM_001034853.2(RPGR):c.1754-7T>G
|
|
|
NM_001034853.2(RPGR):c.1762GAG[1] (p.Glu589del)
|
|
|
NM_001034853.2(RPGR):c.1768A>G (p.Lys590Glu)
|
|
|
NM_001034853.2(RPGR):c.1826A>G (p.Asn609Ser)
|
rs1555961989
|
|
NM_001034853.2(RPGR):c.1841A>C (p.Lys614Thr)
|
|
|
NM_001034853.2(RPGR):c.1859A>G (p.Lys620Arg)
|
|
|
NM_001034853.2(RPGR):c.193G>T (p.Gly65Cys)
|
|
|
NM_001034853.2(RPGR):c.1946A>G (p.Asp649Gly)
|
|
|
NM_001034853.2(RPGR):c.1946A>T (p.Asp649Val)
|
|
|
NM_001034853.2(RPGR):c.1948G>A (p.Gly650Arg)
|
|
|
NM_001034853.2(RPGR):c.1954G>A (p.Glu652Lys)
|
rs2147200398
|
|
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
|
|
|
NM_001034853.2(RPGR):c.1987A>G (p.Ser663Gly)
|
|
|
NM_001034853.2(RPGR):c.202G>A (p.Gly68Arg)
|
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
NM_001034853.2(RPGR):c.2039A>G (p.Asp680Gly)
|
|
|
NM_001034853.2(RPGR):c.203G>A (p.Gly68Glu)
|
|
|
NM_001034853.2(RPGR):c.2053G>C (p.Glu685Gln)
|
|
|
NM_001034853.2(RPGR):c.2056A>G (p.Met686Val)
|
|
|
NM_001034853.2(RPGR):c.2086C>G (p.Leu696Val)
|
|
|
NM_001034853.2(RPGR):c.2094G>T (p.Glu698Asp)
|
|
|
NM_001034853.2(RPGR):c.2188_2189dup (p.Gly731fs)
|
|
|
NM_001034853.2(RPGR):c.2192G>C (p.Gly731Ala)
|
|
|
NM_001034853.2(RPGR):c.2203C>T (p.His735Tyr)
|
|
|
NM_001034853.2(RPGR):c.2203_2226del (p.His735_Glu742del)
|
rs768423834
|
|
NM_001034853.2(RPGR):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001034853.2(RPGR):c.2222AGG[1] (p.Glu742del)
|
|
|
NM_001034853.2(RPGR):c.2291_2293del (p.Val764del)
|
|
|
NM_001034853.2(RPGR):c.2302C>T (p.Arg768Cys)
|
|
|
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
|
|
|
NM_001034853.2(RPGR):c.2310GGA[1] (p.Glu772del)
|
|
|
NM_001034853.2(RPGR):c.2327A>G (p.Lys776Arg)
|
|
|
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
|
|
|
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)
|
rs1287687440
|
|
NM_001034853.2(RPGR):c.2366AAG[1] (p.Glu790del)
|
|
|
NM_001034853.2(RPGR):c.2389_2409del (p.Glu797_Gly803del)
|
|
|
NM_001034853.2(RPGR):c.2399A>G (p.Glu800Gly)
|
|
|
NM_001034853.2(RPGR):c.2407G>A (p.Gly803Arg)
|
|
|
NM_001034853.2(RPGR):c.2408G>A (p.Gly803Glu)
|
|
|
NM_001034853.2(RPGR):c.2425G>C (p.Glu809Gln)
|
|
|
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del)
|
rs745480662
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[3] (p.Glu820_Glu821insGlyGlyGluValGlu)
|
|
|
NM_001034853.2(RPGR):c.2449G>A (p.Gly817Arg)
|
|
|
NM_001034853.2(RPGR):c.2464G>A (p.Gly822Arg)
|
|
|
NM_001034853.2(RPGR):c.2465G>A (p.Gly822Glu)
|
|
|
NM_001034853.2(RPGR):c.247+5G>T
|
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
NM_001034853.2(RPGR):c.247G>T (p.Ala83Ser)
|
|
|
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
|
|
|
NM_001034853.2(RPGR):c.2487_2520delinsGGAGGAGGGT (p.Glu832_Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2489AGG[2] (p.Glu832del)
|
|
|
NM_001034853.2(RPGR):c.2495_2520delinsGT (p.Glu832_Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2496_2516del (p.829EEEEGEG[3])
|
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[4] (p.Gly856_Lys857insGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2520_2561del (p.829EEEEGEG[2])
|
|
|
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2527G>A (p.Glu843Lys)
|
|
|
NM_001034853.2(RPGR):c.2539G>A (p.Gly847Arg)
|
rs1454586504
|
|
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
|
|
|
NM_001034853.2(RPGR):c.2564A>G (p.Glu855Gly)
|
|
|
NM_001034853.2(RPGR):c.2566G>A (p.Gly856Arg)
|
|
|
NM_001034853.2(RPGR):c.2577GGAAGAAGG[1] (p.861EGE[1])
|
|
|
NM_001034853.2(RPGR):c.2589_2603del (p.Gly865_Glu869del)
|
|
|
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del)
|
rs771584745
|
|
NM_001034853.2(RPGR):c.2595_2612del (p.Gly867_Glu872del)
|
|
|
NM_001034853.2(RPGR):c.2598_2599insCGGGAGGAAGAAGGGGAGGAAGGAGAA (p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
|
|
|
NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly)
|
|
|
NM_001034853.2(RPGR):c.2612G>A (p.Gly871Glu)
|
|
|
NM_001034853.2(RPGR):c.2618_2632del (p.Glu873_Glu877del)
|
|
|
NM_001034853.2(RPGR):c.2618_2632dup (p.Glu877_Gly878insGluGlyGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2621_2623del (p.Gly874del)
|
|
|
NM_001034853.2(RPGR):c.2633_2640delinsAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAA (p.Gly878_Glu879delinsGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2634_2684del (p.886EGEEEGEGEGEEEEGEG[1])
|
|
|
NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del)
|
|
|
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.883GEGEGEEE[1])
|
|
|
NM_001034853.2(RPGR):c.2653G>A (p.Gly885Arg)
|
|
|
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
|
|
|
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2660G>A (p.Gly887Glu)
|
|
|
NM_001034853.2(RPGR):c.2666_2671del (p.Glu889_Glu890del)
|
|
|
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[1] (p.890EGEGEGEEE[1])
|
|
|
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu)
|
|
|
NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
|
|
|
NM_001034853.2(RPGR):c.2680_2757dup (p.Gly919_Lys920insGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2682_2696del (p.Glu897_Glu901del)
|
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NM_001034853.2(RPGR):c.2684G>A (p.Gly895Glu)
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NM_001034853.2(RPGR):c.2686G>A (p.Glu896Lys)
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NM_001034853.2(RPGR):c.2693A>G (p.Glu898Gly)
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NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.900GEGEGEEE[1])
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NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])
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rs757402645
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NM_001034853.2(RPGR):c.2720A>G (p.Glu907Gly)
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NM_001034853.2(RPGR):c.2725_2757dup (p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyGluGly)
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NM_001034853.2(RPGR):c.2729G>T (p.Gly910Val)
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NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
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NM_001034853.2(RPGR):c.2733_2819dup (p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2747_2749del (p.Glu916del)
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NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
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NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del)
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rs2067156760
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NM_001034853.2(RPGR):c.2767G>A (p.Glu923Lys)
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NM_001034853.2(RPGR):c.2774_2776del (p.Gly925del)
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NM_001034853.2(RPGR):c.2778_2813dup (p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
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NM_001034853.2(RPGR):c.277G>T (p.Ala93Ser)
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NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
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NM_001034853.2(RPGR):c.2784_2789del (p.928GE[2])
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NM_001034853.2(RPGR):c.2790_2810del (p.Glu934_Glu940del)
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NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del)
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rs1238945219
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NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys)
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NM_001034853.2(RPGR):c.2805_2906del (p.Glu936_Glu969del)
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NM_001034853.2(RPGR):c.2810_2812del (p.Gly937del)
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NM_001034853.2(RPGR):c.2811_2816del (p.937GE[2])
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NM_001034853.2(RPGR):c.2815_2862del (p.Gly939_Glu954del)
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rs1569236115
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NM_001034853.2(RPGR):c.2820AGGGGAGGATGGAGAAGGGGA[3] (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2820_2821insAGGGAGGATGGAGAAGGGGAA (p.Glu940_Gly941insArgGluAspGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2829T>A (p.Asp943Glu)
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NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu)
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NM_001034853.2(RPGR):c.2836G>T (p.Gly946Trp)
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NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGA (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu)
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NM_001034853.2(RPGR):c.2841_2863delinsAGGGGAGGATGGAGAAG (p.Glu950_Trp955delinsAspGlyGluGly)
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NM_001034853.2(RPGR):c.2845G>A (p.Glu949Lys)
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NM_001034853.2(RPGR):c.2847_2856delinsGGAT (p.Glu950_Glu952delinsAsp)
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NM_001034853.2(RPGR):c.2850GGA[1] (p.Glu952del)
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NM_001034853.2(RPGR):c.2852A>G (p.Glu951Gly)
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NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys)
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NM_001034853.2(RPGR):c.2863_2889dup (p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu)
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NM_001034853.2(RPGR):c.2875_2876insGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAG (p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1])
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rs1569236068
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NM_001034853.2(RPGR):c.2876A>G (p.Glu959Gly)
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NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
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NM_001034853.2(RPGR):c.287G>A (p.Arg96Lys)
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rs2147285696
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NM_001034853.2(RPGR):c.29-3C>T
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NM_001034853.2(RPGR):c.2904_2906dup (p.Glu969_Gly970insGlu)
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NM_001034853.2(RPGR):c.2906_2907insGGAAGGAGAATGGGAGGGGGAAGAGGA (p.Glu969_Gly970insGluGlyGluTrpGluGlyGluGluGlu)
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NM_001034853.2(RPGR):c.2914G>A (p.Gly972Arg)
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NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2927_2941del (p.971EGEGE[1])
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NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
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NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly)
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NM_001034853.2(RPGR):c.2935G>T (p.Gly979Trp)
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NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGAAGGGGA (p.Glu984_Glu985insGlyGluGlyGluGluGlu)
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NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
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NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
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NM_001034853.2(RPGR):c.2946_2951del (p.Glu984_Glu985del)
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rs767210576
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NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
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NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1])
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rs761365864
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NM_001034853.2(RPGR):c.2986G>A (p.Glu996Lys)
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NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
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rs1356107537
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NM_001034853.2(RPGR):c.2988_2999dup (p.Glu1004_Gly1005insGluGluGlyGlu)
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NM_001034853.2(RPGR):c.2997_3008del (p.993EEGE[2])
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NM_001034853.2(RPGR):c.3002AAG[1] (p.Glu1002del)
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NM_001034853.2(RPGR):c.3008_3010del (p.Gly1003del)
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NM_001034853.2(RPGR):c.3018G>C (p.Glu1006Asp)
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NM_001034853.2(RPGR):c.3020AAG[1] (p.Glu1008del)
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NM_001034853.2(RPGR):c.3020_3031del (p.Glu1007_Glu1010del)
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NM_001034853.2(RPGR):c.3022G>A (p.Glu1008Lys)
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NM_001034853.2(RPGR):c.3032_3043del (p.1009GE[1])
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NM_001034853.2(RPGR):c.3044A>G (p.Glu1015Gly)
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NM_001034853.2(RPGR):c.3051_3065del (p.Glu1018_Glu1022del)
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NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
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NM_001034853.2(RPGR):c.3070G>C (p.Glu1024Gln)
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NM_001034853.2(RPGR):c.3071A>G (p.Glu1024Gly)
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NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile)
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rs2147285611
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NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])
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NM_001034853.2(RPGR):c.310+3A>G
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rs62638640
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NM_001034853.2(RPGR):c.3143AGG[1] (p.Glu1049del)
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NM_001034853.2(RPGR):c.3149G>A (p.Gly1050Glu)
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NM_001034853.2(RPGR):c.3167GGA[1] (p.Arg1057del)
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NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)
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NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
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rs746535151
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NM_001034853.2(RPGR):c.3186G>C (p.Glu1062Asp)
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NM_001034853.2(RPGR):c.3199G>A (p.Gly1067Arg)
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NM_001034853.2(RPGR):c.3266G>A (p.Ser1089Asn)
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NM_001034853.2(RPGR):c.3271A>G (p.Ile1091Val)
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NM_001034853.2(RPGR):c.3317A>T (p.Lys1106Met)
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NM_001034853.2(RPGR):c.3342T>G (p.Asn1114Lys)
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NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
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NM_001034853.2(RPGR):c.3377C>T (p.Ser1126Leu)
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NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
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NM_001034853.2(RPGR):c.3396del (p.Asn1132fs)
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NM_001034853.2(RPGR):c.3397G>A (p.Gly1133Arg)
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NM_001034853.2(RPGR):c.3416A>C (p.Lys1139Thr)
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NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
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NM_001034853.2(RPGR):c.344A>G (p.Asn115Ser)
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rs2147280549
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NM_001034853.2(RPGR):c.353A>C (p.Gln118Pro)
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NM_001034853.2(RPGR):c.354G>C (p.Gln118His)
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rs2147280538
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NM_001034853.2(RPGR):c.356T>C (p.Leu119Ser)
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NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu)
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rs2147280505
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NM_001034853.2(RPGR):c.38C>T (p.Ala13Val)
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NM_001034853.2(RPGR):c.392A>G (p.His131Arg)
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NM_001034853.2(RPGR):c.397A>T (p.Ile133Phe)
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NM_001034853.2(RPGR):c.408T>A (p.Phe136Leu)
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NM_001034853.2(RPGR):c.41T>A (p.Val14Glu)
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NM_001034853.2(RPGR):c.436T>C (p.Ser146Pro)
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rs2147280274
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NM_001034853.2(RPGR):c.439G>A (p.Ala147Thr)
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NM_001034853.2(RPGR):c.452C>T (p.Thr151Ile)
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rs1060501180
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NM_001034853.2(RPGR):c.454T>C (p.Ser152Pro)
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NM_001034853.2(RPGR):c.466A>G (p.Thr156Ala)
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NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn)
|
rs751512713
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NM_001034853.2(RPGR):c.469+4A>G
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NM_001034853.2(RPGR):c.488T>A (p.Met163Lys)
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NM_001034853.2(RPGR):c.490T>G (p.Trp164Gly)
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NM_001034853.2(RPGR):c.503C>A (p.Ser168Tyr)
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NM_001034853.2(RPGR):c.561_562insTTG (p.Thr187_Ile188insLeu)
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NM_001034853.2(RPGR):c.562A>G (p.Ile188Val)
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NM_001034853.2(RPGR):c.587C>G (p.Ser196Cys)
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NM_001034853.2(RPGR):c.607G>C (p.Ala203Pro)
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NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
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NM_001034853.2(RPGR):c.619+5G>A
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rs62638649
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NM_001034853.2(RPGR):c.619+5G>C
|
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NM_001034853.2(RPGR):c.620-4A>G
|
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NM_001034853.2(RPGR):c.646G>A (p.Glu216Lys)
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NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser)
|
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NM_001034853.2(RPGR):c.676A>G (p.Asn226Asp)
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NM_001034853.2(RPGR):c.677A>C (p.Asn226Thr)
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NM_001034853.2(RPGR):c.677A>G (p.Asn226Ser)
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NM_001034853.2(RPGR):c.680A>G (p.Gln227Arg)
|
rs774988145
|
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NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp)
|
rs2147291804
|
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NM_001034853.2(RPGR):c.692A>G (p.Asn231Ser)
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|
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NM_001034853.2(RPGR):c.725C>A (p.Pro242Gln)
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NM_001034853.2(RPGR):c.725C>T (p.Pro242Leu)
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NM_001034853.2(RPGR):c.735G>A (p.Val245=)
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NM_001034853.2(RPGR):c.754G>A (p.Gly252Arg)
|
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NM_001034853.2(RPGR):c.779-5T>G
|
rs2067565504
|
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NM_001034853.2(RPGR):c.87A>G (p.Lys29=)
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NM_001034853.2(RPGR):c.900T>G (p.Ile300Met)
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NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
|
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NM_001034853.2(RPGR):c.964G>A (p.Gly322Ser)
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NM_001034853.2(RPGR):c.967C>G (p.Arg323Gly)
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NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys)
|
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NM_001034853.2(RPGR):c.971A>G (p.His324Arg)
|
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NM_001034853.2(RPGR):c.972C>G (p.His324Gln)
|
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