NM_031220.4(PITPNM3):c.*3452del
|
rs753516251
|
0.42097
|
NM_031220.4(PITPNM3):c.*3453_*3454insA
|
rs879195140
|
0.38880
|
NM_000554.5(CRX):c.-116T>C
|
rs10418215
|
0.08435
|
NM_014989.7(RIMS1):c.*1390dup
|
rs142802827
|
0.01135
|
NM_001319074.4(RAX2):c.-331C>T
|
rs150444854
|
0.00246
|
NM_031220.4(PITPNM3):c.2307-13del
|
rs553739885
|
0.00205
|
NM_001319074.4(RAX2):c.*477del
|
rs753823753
|
0.00064
|
NM_001319074.4(RAX2):c.*1145G>A
|
rs886054365
|
0.00005
|
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala)
|
rs373553229
|
0.00004
|
NM_031220.4(PITPNM3):c.62G>A (p.Arg21Gln)
|
rs200809389
|
0.00004
|
NM_014989.7(RIMS1):c.*1705C>T
|
rs886061722
|
0.00002
|
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala)
|
rs886061709
|
0.00002
|
NM_000322.4(PRPH2):c.-282G>A
|
rs886061408
|
0.00001
|
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)
|
rs767471467
|
0.00001
|
NM_014989.7(RIMS1):c.*538C>T
|
rs886061713
|
0.00001
|
NM_000322.5(PRPH2):c.*468_*469del
|
rs886061401
|
|
NM_000322.5(PRPH2):c.*483_*484dup
|
rs55851577
|
|
NM_000322.5(PRPH2):c.*484del
|
rs55851577
|
|
NM_000554.6(CRX):c.*1621_*1623dup
|
rs59559801
|
|
NM_000554.6(CRX):c.*1654dup
|
rs138321430
|
|
NM_000554.6(CRX):c.*1900del
|
rs796977583
|
|
NM_000554.6(CRX):c.*308AAG[2]
|
rs398059782
|
|
NM_000554.6(CRX):c.*435del
|
rs886054551
|
|
NM_000554.6(CRX):c.*754_*756dup
|
rs60558029
|
|
NM_000554.6(CRX):c.*756dup
|
rs60558029
|
|
NM_001319074.4(RAX2):c.*1082_*1092del
|
rs143816706
|
|
NM_001319074.4(RAX2):c.*1205G>A
|
rs886054364
|
|
NM_001319074.4(RAX2):c.*721_*724del
|
rs138512126
|
|
NM_006017.3(PROM1):c.*84del
|
rs112952685
|
|
NM_006017.3(PROM1):c.-37C>T
|
rs776360269
|
|
NM_006017.3(PROM1):c.2374-14dup
|
rs370477050
|
|
NM_006017.3(PROM1):c.2374-5dup
|
rs34269395
|
|
NM_006017.3(PROM1):c.785-11T>G
|
rs886059204
|
|
NM_014989.7(RIMS1):c.*1453dup
|
rs537509888
|
|
NM_014989.7(RIMS1):c.*1457dup
|
rs886061718
|
|
NM_014989.7(RIMS1):c.*517dup
|
rs201958591
|
|
NM_014989.7(RIMS1):c.-182_-180dup
|
rs555947867
|
|
NM_014989.7(RIMS1):c.1382C>T (p.Ala461Val)
|
rs886061706
|
|
NM_014989.7(RIMS1):c.4618+20del
|
rs113359739
|
|
NM_014989.7(RIMS1):c.4618+20dup
|
rs113359739
|
|
NM_031220.4(PITPNM3):c.*2024_*2025del
|
rs570855209
|
|
NM_031220.4(PITPNM3):c.*2037del
|
rs552929922
|
|
NM_031220.4(PITPNM3):c.*2183_*2184del
|
rs886053294
|
|
NM_031220.4(PITPNM3):c.*2196AG[10]
|
rs147582461
|
|
NM_031220.4(PITPNM3):c.*2196AG[7]
|
rs147582461
|
|
NM_031220.4(PITPNM3):c.*2305_*2308del
|
rs760233482
|
|
NM_031220.4(PITPNM3):c.*2306delinsAAGGAAGACAGAGAG
|
rs886053291
|
|
NM_031220.4(PITPNM3):c.*2316GA[7]
|
rs112833778
|
|
NM_031220.4(PITPNM3):c.*2316GA[8]
|
rs112833778
|
|
NM_031220.4(PITPNM3):c.*2316GA[9]
|
rs112833778
|
|
NM_031220.4(PITPNM3):c.*2336_*2337del
|
rs144836655
|
|
NM_031220.4(PITPNM3):c.*2345AG[6]
|
rs796340486
|
|
NM_031220.4(PITPNM3):c.*2363AG[7]
|
rs886053289
|
|
NM_031220.4(PITPNM3):c.*2381AG[5]
|
rs553650590
|
|
NM_031220.4(PITPNM3):c.*3445_*3446insT
|
rs55984944
|
|
NM_031220.4(PITPNM3):c.*3446_*3452delinsTGGCGGGGG
|
rs886053278
|
|
NM_031220.4(PITPNM3):c.*3447dup
|
rs1555549918
|
|
NM_031220.4(PITPNM3):c.*3448_*3449insCGG
|
rs886053279
|
|
NM_031220.4(PITPNM3):c.*3452_*3453del
|
rs796279837
|
|
NM_031220.4(PITPNM3):c.*3453_*3454insC
|
rs879195140
|
|
NM_031220.4(PITPNM3):c.*3455_*3456insT
|
rs886053277
|
|
NM_031220.4(PITPNM3):c.*3456_*3457insT
|
rs200905881
|
|
NM_031220.4(PITPNM3):c.*3463_*3464insCG
|
rs1555549891
|
|
NM_031220.4(PITPNM3):c.*3464del
|
rs750929247
|
|
NM_031220.4(PITPNM3):c.*3464dup
|
rs750929247
|
|
NM_031220.4(PITPNM3):c.*34dup
|
rs748647107
|
|
NM_031220.4(PITPNM3):c.*3555del
|
rs61555153
|
|
NM_031220.4(PITPNM3):c.*582dup
|
rs57661669
|
|
NM_031220.4(PITPNM3):c.*959del
|
rs560454526
|
|