NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
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rs62638654
|
0.00191
|
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)
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rs202156474
|
0.00037
|
NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met)
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rs202154504
|
0.00013
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NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
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rs762173989
|
0.00005
|
NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)
|
rs757714144
|
0.00005
|
NM_001034853.2(RPGR):c.1687G>A (p.Val563Met)
|
rs148334278
|
0.00005
|
NM_001034853.2(RPGR):c.373G>A (p.Glu125Lys)
|
rs769175863
|
0.00005
|
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)
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rs62638645
|
0.00005
|
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=)
|
rs759743089
|
0.00002
|
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)
|
rs794727019
|
0.00001
|
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn)
|
rs1159969109
|
0.00001
|
NM_001034853.2(RPGR):c.248-7T>C
|
rs772049733
|
0.00001
|
NM_001034853.2(RPGR):c.619+8A>G
|
rs1230328335
|
0.00001
|
NM_001034853.2(RPGR):c.968G>A (p.Arg323His)
|
rs2067497181
|
0.00001
|
NM_000328.3(RPGR):c.*177A>G
|
|
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NM_000328.3(RPGR):c.*207A>G
|
|
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NM_000328.3(RPGR):c.2074G>C (p.Ala692Pro)
|
|
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NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys)
|
rs1555958965
|
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NM_001034853.2(RPGR):c.1052T>A (p.Val351Asp)
|
|
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NM_001034853.2(RPGR):c.1066T>C (p.Cys356Arg)
|
rs794726978
|
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NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
|
|
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NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
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|
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NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
|
NM_001034853.2(RPGR):c.1506+3A>G
|
rs2147212763
|
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NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
|
|
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NM_001034853.2(RPGR):c.154+5G>A
|
|
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NM_001034853.2(RPGR):c.1558G>A (p.Val520Ile)
|
|
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NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
|
|
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NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
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|
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NM_001034853.2(RPGR):c.1651_1659del (p.Ser551_Met553del)
|
|
|
NM_001034853.2(RPGR):c.1754-2dup
|
rs2067203496
|
|
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg)
|
rs2067975926
|
|
NM_001034853.2(RPGR):c.197A>T (p.Gln66Leu)
|
|
|
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)
|
rs1287687440
|
|
NM_001034853.2(RPGR):c.2378A>G (p.Gln793Arg)
|
|
|
NM_001034853.2(RPGR):c.2426A>T (p.Glu809Val)
|
|
|
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del)
|
rs745480662
|
|
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr)
|
rs2067974263
|
|
NM_001034853.2(RPGR):c.2511GGA[1] (p.Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
|
|
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NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del)
|
rs771584745
|
|
NM_001034853.2(RPGR):c.2633G>T (p.Gly878Val)
|
rs1218098015
|
|
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.883GEGEGEEE[3])
|
rs756520886
|
|
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
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NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
|
|
|
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])
|
rs757402645
|
|
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
|
|
|
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del)
|
rs2067156760
|
|
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
|
|
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NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
|
|
|
NM_001034853.2(RPGR):c.2984_2985insAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGG (p.Glu996_Glu997insGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
|
|
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NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
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NM_001034853.2(RPGR):c.3046G>A (p.Glu1016Lys)
|
|
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NM_001034853.2(RPGR):c.308C>A (p.Thr103Lys)
|
|
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NM_001034853.2(RPGR):c.3143A>G (p.Lys1048Arg)
|
rs2147190857
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
NM_001034853.2(RPGR):c.3317A>C (p.Lys1106Thr)
|
|
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NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
|
|
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NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
|
|
|
NM_001034853.2(RPGR):c.3413A>G (p.Lys1138Arg)
|
rs1569234937
|
|
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
|
|
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NM_001034853.2(RPGR):c.358G>A (p.Gly120Arg)
|
|
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NM_001034853.2(RPGR):c.359G>A (p.Gly120Glu)
|
|
|
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)
|
rs2067847091
|
|
NM_001034853.2(RPGR):c.565G>A (p.Gly189Arg)
|
rs1057523984
|
|
NM_001034853.2(RPGR):c.590G>A (p.Cys197Tyr)
|
|
|
NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
|
|
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NM_001034853.2(RPGR):c.617C>T (p.Thr206Ile)
|
rs1555967757
|
|
NM_001034853.2(RPGR):c.657T>C (p.Asn219=)
|
|
|
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp)
|
rs1555966699
|
|
NM_001034853.2(RPGR):c.758A>G (p.Glu253Gly)
|
|
|
NM_001034853.2(RPGR):c.777G>A (p.Thr259=)
|
rs794727844
|
|