NM_000554.6(CRX):c.778G>A (p.Ala260Thr)
|
rs370592248
|
0.00021
|
NM_000554.6(CRX):c.203C>T (p.Ala68Val)
|
rs145649717
|
0.00020
|
NM_000554.6(CRX):c.790G>A (p.Val264Met)
|
rs138146799
|
0.00009
|
NM_000554.6(CRX):c.565G>A (p.Ala189Thr)
|
rs142111462
|
0.00007
|
NM_000554.6(CRX):c.590C>T (p.Pro197Leu)
|
rs761290111
|
0.00006
|
NM_000554.6(CRX):c.344G>A (p.Arg115Gln)
|
rs750727986
|
0.00005
|
NM_000554.6(CRX):c.332A>G (p.Gln111Arg)
|
rs760741667
|
0.00004
|
NM_000554.6(CRX):c.335C>T (p.Ala112Val)
|
rs61748439
|
0.00004
|
NM_000554.6(CRX):c.491G>A (p.Ser164Asn)
|
rs1039194669
|
0.00004
|
NM_000554.6(CRX):c.619G>A (p.Ala207Thr)
|
rs376982187
|
0.00004
|
NM_000554.6(CRX):c.818C>T (p.Thr273Met)
|
rs281865203
|
0.00004
|
NM_000554.6(CRX):c.83A>G (p.Gln28Arg)
|
rs781577708
|
0.00004
|
NM_000554.6(CRX):c.460A>G (p.Thr154Ala)
|
rs763651232
|
0.00003
|
NM_000554.6(CRX):c.464C>T (p.Thr155Met)
|
rs753466818
|
0.00003
|
NM_000554.6(CRX):c.649G>A (p.Gly217Ser)
|
rs146869548
|
0.00003
|
NM_000554.6(CRX):c.485T>C (p.Ile162Thr)
|
rs745628043
|
0.00002
|
NM_000554.6(CRX):c.487T>C (p.Trp163Arg)
|
rs779912365
|
0.00002
|
NM_000554.6(CRX):c.513G>C (p.Leu171Phe)
|
rs773154643
|
0.00002
|
NM_000554.6(CRX):c.521C>T (p.Ala174Val)
|
rs771028537
|
0.00002
|
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys)
|
rs1211313175
|
0.00001
|
NM_000554.6(CRX):c.140C>T (p.Thr47Ile)
|
rs1203670123
|
0.00001
|
NM_000554.6(CRX):c.142C>T (p.Arg48Trp)
|
rs761797993
|
0.00001
|
NM_000554.6(CRX):c.205C>T (p.Arg69Cys)
|
rs771551785
|
0.00001
|
NM_000554.6(CRX):c.20C>T (p.Pro7Leu)
|
rs558522333
|
0.00001
|
NM_000554.6(CRX):c.225G>T (p.Lys75Asn)
|
rs1568624864
|
0.00001
|
NM_000554.6(CRX):c.253-7C>G
|
rs754128724
|
0.00001
|
NM_000554.6(CRX):c.269G>A (p.Arg90Gln)
|
rs1209634994
|
0.00001
|
NM_000554.6(CRX):c.343C>T (p.Arg115Trp)
|
rs1056691132
|
0.00001
|
NM_000554.6(CRX):c.412A>G (p.Ile138Val)
|
rs373934471
|
0.00001
|
NM_000554.6(CRX):c.433C>T (p.Pro145Ser)
|
rs149300196
|
0.00001
|
NM_000554.6(CRX):c.439C>T (p.Pro147Ser)
|
rs1173779531
|
0.00001
|
NM_000554.6(CRX):c.43G>A (p.Ala15Thr)
|
rs559181643
|
0.00001
|
NM_000554.6(CRX):c.43G>C (p.Ala15Pro)
|
rs559181643
|
0.00001
|
NM_000554.6(CRX):c.526C>G (p.Arg176Gly)
|
rs543243551
|
0.00001
|
NM_000554.6(CRX):c.560C>T (p.Thr187Ile)
|
rs758125850
|
0.00001
|
NM_000554.6(CRX):c.632C>T (p.Pro211Leu)
|
rs559042370
|
0.00001
|
NM_000554.6(CRX):c.673A>C (p.Met225Leu)
|
rs765976845
|
0.00001
|
NM_000554.6(CRX):c.688G>C (p.Gly230Arg)
|
rs1461832129
|
0.00001
|
NM_000554.6(CRX):c.740C>T (p.Ala247Val)
|
rs1196719242
|
0.00001
|
NM_000554.6(CRX):c.806_809dup (p.Lys270fs)
|
rs1968173706
|
0.00001
|
NM_000554.6(CRX):c.8C>T (p.Ala3Val)
|
rs762715327
|
0.00001
|
NC_000019.10:g.(?_47801775)_(47886257_?)del
|
|
|
NC_000019.10:g.(?_47818438)_(47886257_?)del
|
|
|
NC_000019.10:g.(?_47834444)_(47836394_?)del
|
|
|
NC_000019.10:g.(?_47839300)_(47839987_?)del
|
|
|
NC_000019.10:g.(?_47839320)_(47839967_?)del
|
|
|
NC_000019.9:g.(?_48337701)_(48337820_?)del
|
|
|
NC_000019.9:g.(?_48337701)_(48339671_?)dup
|
|
|
NC_000019.9:g.(?_48342557)_(48343224_?)dup
|
|
|
NM_000554.6(CRX):c.100+3G>C
|
rs1568624171
|
|
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
|
|
|
NM_000554.6(CRX):c.108del (p.Arg37fs)
|
rs2123739840
|
|
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
|
|
|
NM_000554.6(CRX):c.125_128dup (p.Thr44fs)
|
rs2123739871
|
|
NM_000554.6(CRX):c.127C>A (p.Arg43Ser)
|
rs1437021651
|
|
NM_000554.6(CRX):c.128G>T (p.Arg43Leu)
|
rs771736389
|
|
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
|
|
|
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
|
|
|
NM_000554.6(CRX):c.176_177del (p.Ala59fs)
|
rs2123739943
|
|
NM_000554.6(CRX):c.182C>T (p.Thr61Ile)
|
rs1599985527
|
|
NM_000554.6(CRX):c.196G>T (p.Val66Phe)
|
rs61748438
|
|
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
|
|
|
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
|
|
|
NM_000554.6(CRX):c.226A>T (p.Ile76Phe)
|
rs2123740000
|
|
NM_000554.6(CRX):c.253-1G>T
|
|
|
NM_000554.6(CRX):c.258G>C (p.Trp86Cys)
|
rs1968160766
|
|
NM_000554.6(CRX):c.25C>T (p.Pro9Ser)
|
rs2123738269
|
|
NM_000554.6(CRX):c.262A>G (p.Lys88Glu)
|
rs1968160874
|
|
NM_000554.6(CRX):c.263A>G (p.Lys88Arg)
|
rs1001151383
|
|
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)
|
rs786205521
|
|
NM_000554.6(CRX):c.274G>C (p.Ala92Pro)
|
rs786205521
|
|
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
|
|
|
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
|
|
|
NM_000554.6(CRX):c.323del (p.Pro108fs)
|
rs1968162287
|
|
NM_000554.6(CRX):c.324del (p.Gly110fs)
|
rs2123742895
|
|
NM_000554.6(CRX):c.349G>A (p.Ala117Thr)
|
rs1599991109
|
|
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
|
|
|
NM_000554.6(CRX):c.365del (p.Gly122fs)
|
rs1968163226
|
|
NM_000554.6(CRX):c.377G>A (p.Arg126Lys)
|
rs1299569341
|
|
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
|
|
|
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
|
|
|
NM_000554.6(CRX):c.381del (p.Ser128fs)
|
rs1599991268
|
|
NM_000554.6(CRX):c.404C>G (p.Pro135Arg)
|
rs2123743010
|
|
NM_000554.6(CRX):c.407_416dup (p.Asp140fs)
|
rs1968164438
|
|
NM_000554.6(CRX):c.415T>G (p.Ser139Ala)
|
rs373281561
|
|
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter)
|
rs1968164899
|
|
NM_000554.6(CRX):c.42C>A (p.Asn14Lys)
|
rs774344094
|
|
NM_000554.6(CRX):c.435del (p.Leu146fs)
|
rs1968165217
|
|
NM_000554.6(CRX):c.442G>C (p.Gly148Arg)
|
rs760080266
|
|
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
|
|
|
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
|
|
|
NM_000554.6(CRX):c.494del (p.Pro165fs)
|
rs2123743155
|
|
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
|
|
|
NM_000554.6(CRX):c.501del (p.Glu168fs)
|
rs2123743175
|
|
NM_000554.6(CRX):c.509del (p.Pro170fs)
|
rs2123743184
|
|
NM_000554.6(CRX):c.526C>T (p.Arg176Trp)
|
rs543243551
|
|
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
|
|
|
NM_000554.6(CRX):c.529del (p.Ala177fs)
|
rs61748449
|
|
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
|
|
|
NM_000554.6(CRX):c.533G>C (p.Gly178Ala)
|
rs926713896
|
|
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
|
|
|
NM_000554.6(CRX):c.557del (p.Leu186fs)
|
|
|
NM_000554.6(CRX):c.565G>C (p.Ala189Pro)
|
rs142111462
|
|
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
|
|
|
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
|
|
|
NM_000554.6(CRX):c.578T>A (p.Met193Lys)
|
rs771206912
|
|
NM_000554.6(CRX):c.581C>A (p.Thr194Asn)
|
rs774657041
|
|
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
|
|
|
NM_000554.6(CRX):c.587C>T (p.Ala196Val)
|
rs1372852556
|
|
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
|
|
|
NM_000554.6(CRX):c.592del (p.Ala198fs)
|
rs1968169272
|
|
NM_000554.6(CRX):c.593C>T (p.Ala198Val)
|
rs776232503
|
|
NM_000554.6(CRX):c.594_606del (p.Ser199fs)
|
rs1968169319
|
|
NM_000554.6(CRX):c.597del (p.Ala200fs)
|
rs2123743359
|
|
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
|
|
|
NM_000554.6(CRX):c.605del (p.Cys202fs)
|
rs878853383
|
|
NM_000554.6(CRX):c.60C>G (p.Gly20=)
|
rs769017861
|
|
NM_000554.6(CRX):c.626G>A (p.Gly209Glu)
|
rs1968170166
|
|
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
|
|
|
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
|
|
|
NM_000554.6(CRX):c.660del (p.Tyr221fs)
|
rs864309707
|
|
NM_000554.6(CRX):c.660dup (p.Tyr221fs)
|
rs864309707
|
|
NM_000554.6(CRX):c.673A>G (p.Met225Val)
|
|
|
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
|
|
|
NM_000554.6(CRX):c.684G>C (p.Gln228His)
|
rs756105390
|
|
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile)
|
rs1968171338
|
|
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
|
|
|
NM_000554.6(CRX):c.702T>C (p.Leu234=)
|
rs992252014
|
|
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
|
|
|
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr)
|
rs1968172066
|
|
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
|
|
|
NM_000554.6(CRX):c.728dup (p.Pro244fs)
|
rs1968172289
|
|
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
|
|
|
NM_000554.6(CRX):c.750del (p.Thr251fs)
|
rs2123743577
|
|
NM_000554.6(CRX):c.753del (p.Ser252fs)
|
rs61749660
|
|
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
|
|
|
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
|
|
|
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter)
|
rs2123743638
|
|
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
|
|
|
NM_000554.6(CRX):c.790G>T (p.Val264Leu)
|
rs138146799
|
|
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr)
|
rs751790087
|
|
NM_000554.6(CRX):c.794A>T (p.Asp265Val)
|
rs2123743660
|
|
NM_000554.6(CRX):c.798del (p.Leu267fs)
|
rs2123743667
|
|
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
|
|
|
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr)
|
rs2123743672
|
|
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
|
|
|
NM_000554.6(CRX):c.841A>G (p.Asn281Asp)
|
rs2123743725
|
|
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
|
|
|
NM_000554.6(CRX):c.857T>C (p.Leu286Pro)
|
rs886054547
|
|
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
|
|
|
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
|
|
|
NM_000554.6(CRX):c.871C>T (p.Gln291Ter)
|
rs2123743754
|
|
NM_000554.6(CRX):c.873G>T (p.Gln291His)
|
rs1968174829
|
|
NM_000554.6(CRX):c.893T>A (p.Ile298Asn)
|
rs2123743769
|
|
NM_000554.6(CRX):c.89T>A (p.Val30Glu)
|
|
|