NM_021728.4(OTX2):c.459C>T (p.Ser153=)
|
rs34537598
|
0.00961
|
NM_021728.4(OTX2):c.97+12C>T
|
rs28757218
|
0.00889
|
NM_021728.4(OTX2):c.831C>T (p.Asn277=)
|
rs78559885
|
0.00171
|
NM_021728.4(OTX2):c.663C>T (p.Pro221=)
|
rs142743327
|
0.00089
|
NM_021728.4(OTX2):c.97+20C>T
|
rs369946194
|
0.00063
|
NM_021728.4(OTX2):c.273+11T>C
|
rs371958059
|
0.00021
|
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)
|
rs199761861
|
0.00016
|
NM_021728.4(OTX2):c.680T>G (p.Leu227Arg)
|
rs761733794
|
0.00015
|
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)
|
rs150982073
|
0.00013
|
NM_021728.4(OTX2):c.757G>A (p.Ala253Thr)
|
rs139800030
|
0.00011
|
NM_021728.4(OTX2):c.187G>T (p.Ala63Ser)
|
rs368759331
|
0.00009
|
NM_021728.4(OTX2):c.477C>A (p.Ile159=)
|
rs373798705
|
0.00009
|
NM_021728.4(OTX2):c.743C>T (p.Thr248Ile)
|
rs199650198
|
0.00009
|
NM_021728.4(OTX2):c.840T>C (p.Ala280=)
|
rs201396096
|
0.00005
|
NM_021728.4(OTX2):c.85G>A (p.Val29Met)
|
rs777618282
|
0.00005
|
NM_021728.4(OTX2):c.376G>C (p.Ala126Pro)
|
rs925178840
|
0.00004
|
NM_021728.4(OTX2):c.421C>A (p.Pro141Thr)
|
rs376333965
|
0.00004
|
NM_021728.4(OTX2):c.602C>A (p.Thr201Asn)
|
rs755578825
|
0.00004
|
NM_021728.4(OTX2):c.270G>T (p.Val90=)
|
rs747916036
|
0.00003
|
NM_021728.4(OTX2):c.38A>G (p.Asn13Ser)
|
rs776356711
|
0.00003
|
NM_021728.4(OTX2):c.664G>A (p.Gly222Arg)
|
rs374968145
|
0.00003
|
NM_021728.4(OTX2):c.713A>T (p.His238Leu)
|
rs144449264
|
0.00003
|
NM_021728.4(OTX2):c.203C>G (p.Thr68Ser)
|
rs759256101
|
0.00002
|
NM_021728.4(OTX2):c.372T>C (p.Ser124=)
|
rs763911822
|
0.00002
|
NM_021728.4(OTX2):c.567G>A (p.Gln189=)
|
rs1257366193
|
0.00002
|
NM_021728.4(OTX2):c.758C>T (p.Ala253Val)
|
rs758228717
|
0.00002
|
NM_021728.4(OTX2):c.873G>A (p.Ser291=)
|
rs759833842
|
0.00002
|
NM_021728.4(OTX2):c.150G>A (p.Arg50=)
|
rs1246931412
|
0.00001
|
NM_021728.4(OTX2):c.192G>A (p.Leu64=)
|
rs141664597
|
0.00001
|
NM_021728.4(OTX2):c.226C>A (p.Arg76=)
|
rs773157352
|
0.00001
|
NM_021728.4(OTX2):c.290G>A (p.Arg97Gln)
|
rs200990681
|
0.00001
|
NM_021728.4(OTX2):c.385G>C (p.Val129Leu)
|
rs1294096975
|
0.00001
|
NM_021728.4(OTX2):c.411C>T (p.Gly137=)
|
rs772021946
|
0.00001
|
NM_021728.4(OTX2):c.423C>A (p.Pro141=)
|
rs372008404
|
0.00001
|
NM_021728.4(OTX2):c.446C>T (p.Thr149Ile)
|
rs771047348
|
0.00001
|
NM_021728.4(OTX2):c.488C>T (p.Ala163Val)
|
rs1891907901
|
0.00001
|
NM_021728.4(OTX2):c.64A>G (p.Met22Val)
|
rs200680654
|
0.00001
|
NM_021728.4(OTX2):c.682A>G (p.Ser228Gly)
|
rs529946021
|
0.00001
|
NM_021728.4(OTX2):c.744C>A (p.Thr248=)
|
rs1026307269
|
0.00001
|
NM_021728.4(OTX2):c.872C>T (p.Ser291Leu)
|
rs753156713
|
0.00001
|
NC_000014.8:g.(?_57268453)_(57272174_?)del
|
|
|
NC_000014.8:g.(?_57268453)_(57272174_?)dup
|
|
|
NC_000014.8:g.(?_57270959)_(57274875_?)del
|
|
|
NC_000014.9:g.(?_56801715)_(56802375_?)del
|
|
|
NC_000014.9:g.(?_56801715)_(56804383_?)del
|
|
|
NM_021728.4(OTX2):c.125C>A (p.Thr42Asn)
|
|
|
NM_021728.4(OTX2):c.126C>A (p.Thr42=)
|
rs750923926
|
|
NM_021728.4(OTX2):c.127C>A (p.Pro43Thr)
|
|
|
NM_021728.4(OTX2):c.127C>G (p.Pro43Ala)
|
rs374042850
|
|
NM_021728.4(OTX2):c.130del (p.Arg44fs)
|
rs758119168
|
|
NM_021728.4(OTX2):c.142C>T (p.Arg48Trp)
|
|
|
NM_021728.4(OTX2):c.150del (p.Thr51fs)
|
|
|
NM_021728.4(OTX2):c.155C>G (p.Thr52Arg)
|
|
|
NM_021728.4(OTX2):c.167C>A (p.Ala56Glu)
|
|
|
NM_021728.4(OTX2):c.168G>T (p.Ala56=)
|
rs1354433789
|
|
NM_021728.4(OTX2):c.171G>C (p.Gln57His)
|
|
|
NM_021728.4(OTX2):c.190C>A (p.Leu64Met)
|
|
|
NM_021728.4(OTX2):c.190_191del (p.Leu64fs)
|
|
|
NM_021728.4(OTX2):c.192G>C (p.Leu64=)
|
|
|
NM_021728.4(OTX2):c.207G>A (p.Arg69=)
|
|
|
NM_021728.4(OTX2):c.211C>T (p.Pro71Ser)
|
|
|
NM_021728.4(OTX2):c.217A>T (p.Ile73Phe)
|
|
|
NM_021728.4(OTX2):c.225G>A (p.Met75Ile)
|
|
|
NM_021728.4(OTX2):c.235G>A (p.Val79Met)
|
rs1434432414
|
|
NM_021728.4(OTX2):c.257C>T (p.Pro86Leu)
|
|
|
NM_021728.4(OTX2):c.270G>A (p.Val90=)
|
|
|
NM_021728.4(OTX2):c.273+10A>T
|
|
|
NM_021728.4(OTX2):c.274-4C>T
|
rs778847365
|
|
NM_021728.4(OTX2):c.283A>G (p.Lys95Glu)
|
|
|
NM_021728.4(OTX2):c.286A>T (p.Asn96Tyr)
|
rs2139529387
|
|
NM_021728.4(OTX2):c.297T>C (p.Ala99=)
|
rs2139529344
|
|
NM_021728.4(OTX2):c.305G>A (p.Arg102His)
|
|
|
NM_021728.4(OTX2):c.316C>T (p.Gln106Ter)
|
|
|
NM_021728.4(OTX2):c.363del (p.Lys122fs)
|
|
|
NM_021728.4(OTX2):c.377C>T (p.Ala126Val)
|
|
|
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln)
|
rs199799627
|
|
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro)
|
rs199799627
|
|
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu)
|
rs199799627
|
|
NM_021728.4(OTX2):c.385G>A (p.Val129Met)
|
rs1294096975
|
|
NM_021728.4(OTX2):c.388A>T (p.Ser130Cys)
|
|
|
NM_021728.4(OTX2):c.392C>T (p.Ser131Leu)
|
|
|
NM_021728.4(OTX2):c.404C>G (p.Thr135Arg)
|
rs1891915573
|
|
NM_021728.4(OTX2):c.408T>A (p.Ser136Arg)
|
|
|
NM_021728.4(OTX2):c.425C>A (p.Pro142His)
|
rs199761861
|
|
NM_021728.4(OTX2):c.425C>T (p.Pro142Leu)
|
rs199761861
|
|
NM_021728.4(OTX2):c.426C>A (p.Pro142=)
|
rs553884027
|
|
NM_021728.4(OTX2):c.426C>T (p.Pro142=)
|
rs553884027
|
|
NM_021728.4(OTX2):c.43C>T (p.Leu15=)
|
|
|
NM_021728.4(OTX2):c.440T>C (p.Val147Ala)
|
rs2139528876
|
|
NM_021728.4(OTX2):c.441C>G (p.Val147=)
|
|
|
NM_021728.4(OTX2):c.443C>T (p.Pro148Leu)
|
rs201721391
|
|
NM_021728.4(OTX2):c.444G>A (p.Pro148=)
|
rs147896150
|
|
NM_021728.4(OTX2):c.444G>C (p.Pro148=)
|
rs147896150
|
|
NM_021728.4(OTX2):c.444dup (p.Thr149fs)
|
rs2139528859
|
|
NM_021728.4(OTX2):c.451G>A (p.Ala151Thr)
|
rs770486100
|
|
NM_021728.4(OTX2):c.451G>T (p.Ala151Ser)
|
rs770486100
|
|
NM_021728.4(OTX2):c.453C>T (p.Ala151=)
|
|
|
NM_021728.4(OTX2):c.458G>A (p.Ser153Asn)
|
|
|
NM_021728.4(OTX2):c.461G>C (p.Ser154Thr)
|
|
|
NM_021728.4(OTX2):c.479G>A (p.Trp160Ter)
|
|
|
NM_021728.4(OTX2):c.483C>T (p.Ser161=)
|
rs538192166
|
|
NM_021728.4(OTX2):c.516del (p.Leu172fs)
|
|
|
NM_021728.4(OTX2):c.543G>A (p.Arg181=)
|
rs1184804231
|
|
NM_021728.4(OTX2):c.546_553del (p.Tyr183fs)
|
rs2139528560
|
|
NM_021728.4(OTX2):c.561T>C (p.Tyr187=)
|
|
|
NM_021728.4(OTX2):c.565C>T (p.Gln189Ter)
|
|
|
NM_021728.4(OTX2):c.579T>C (p.Tyr193=)
|
rs2139528485
|
|
NM_021728.4(OTX2):c.580A>G (p.Ser194Gly)
|
rs765382721
|
|
NM_021728.4(OTX2):c.586G>T (p.Gly196Ter)
|
rs397514463
|
|
NM_021728.4(OTX2):c.596del (p.Gly199fs)
|
rs1891902224
|
|
NM_021728.4(OTX2):c.597C>G (p.Gly199=)
|
rs775913832
|
|
NM_021728.4(OTX2):c.599C>T (p.Ser200Leu)
|
|
|
NM_021728.4(OTX2):c.601A>T (p.Thr201Ser)
|
rs748910557
|
|
NM_021728.4(OTX2):c.602C>T (p.Thr201Ile)
|
|
|
NM_021728.4(OTX2):c.617G>T (p.Gly206Val)
|
|
|
NM_021728.4(OTX2):c.632C>A (p.Ser211Ter)
|
rs1891900408
|
|
NM_021728.4(OTX2):c.640A>G (p.Thr214Ala)
|
|
|
NM_021728.4(OTX2):c.648G>A (p.Met216Ile)
|
|
|
NM_021728.4(OTX2):c.655C>T (p.Gln219Ter)
|
|
|
NM_021728.4(OTX2):c.658_659delinsG (p.Leu220fs)
|
rs1566622642
|
|
NM_021728.4(OTX2):c.65T>C (p.Met22Thr)
|
rs2139537248
|
|
NM_021728.4(OTX2):c.661C>T (p.Pro221Ser)
|
|
|
NM_021728.4(OTX2):c.666A>G (p.Gly222=)
|
|
|
NM_021728.4(OTX2):c.701C>T (p.Ala234Val)
|
|
|
NM_021728.4(OTX2):c.707C>T (p.Thr236Ile)
|
|
|
NM_021728.4(OTX2):c.721C>T (p.Gln241Ter)
|
|
|
NM_021728.4(OTX2):c.728C>T (p.Pro243Leu)
|
|
|
NM_021728.4(OTX2):c.730G>T (p.Ala244Ser)
|
rs1594952158
|
|
NM_021728.4(OTX2):c.745C>T (p.Gln249Ter)
|
rs1891892511
|
|
NM_021728.4(OTX2):c.749G>A (p.Gly250Glu)
|
rs746941491
|
|
NM_021728.4(OTX2):c.74T>C (p.Leu25Pro)
|
rs2139537214
|
|
NM_021728.4(OTX2):c.758C>G (p.Ala253Gly)
|
|
|
NM_021728.4(OTX2):c.75G>A (p.Leu25=)
|
rs2139537208
|
|
NM_021728.4(OTX2):c.774dup (p.Asn259Ter)
|
rs1891889944
|
|
NM_021728.4(OTX2):c.778T>G (p.Ser260Ala)
|
rs2139527790
|
|
NM_021728.4(OTX2):c.782C>T (p.Thr261Ile)
|
|
|
NM_021728.4(OTX2):c.804G>A (p.Lys268=)
|
rs1891888606
|
|
NM_021728.4(OTX2):c.806A>G (p.Asp269Gly)
|
rs2139527692
|
|
NM_021728.4(OTX2):c.81C>T (p.Pro27=)
|
rs1892047371
|
|
NM_021728.4(OTX2):c.821G>A (p.Trp274Ter)
|
rs1891888072
|
|
NM_021728.4(OTX2):c.837T>C (p.Asn279=)
|
rs2139527617
|
|
NM_021728.4(OTX2):c.843C>A (p.Asp281Glu)
|
|
|
NM_021728.4(OTX2):c.867A>T (p.Thr289=)
|
rs2139527552
|
|
NM_021728.4(OTX2):c.871T>A (p.Ser291Thr)
|
rs2139527543
|
|
NM_021728.4(OTX2):c.873G>C (p.Ser291=)
|
rs759833842
|
|
NM_021728.4(OTX2):c.90C>A (p.Gly30=)
|
|
|
NM_021728.4(OTX2):c.94C>A (p.Pro32Thr)
|
|
|
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs)
|
rs1555350223
|
|