NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)
|
rs2293869
|
0.33006
|
NM_006269.2(RP1):c.2615G>A (p.Arg872His)
|
rs444772
|
0.24558
|
NM_006269.2(RP1):c.382C>A (p.Leu128Ile)
|
rs147116231
|
0.00283
|
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)
|
rs147990983
|
0.00147
|
NM_006269.2(RP1):c.1187G>A (p.Arg396Gln)
|
rs141279458
|
0.00138
|
NM_006269.2(RP1):c.6167G>A (p.Gly2056Asp)
|
rs35327842
|
0.00135
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
NM_006269.2(RP1):c.4563C>T (p.Asn1521=)
|
rs150524359
|
0.00056
|
NM_006269.2(RP1):c.2116G>C (p.Gly706Arg)
|
rs199879316
|
0.00014
|
NM_006269.2(RP1):c.2894G>T (p.Ser965Ile)
|
rs201110322
|
0.00009
|
NM_006269.2(RP1):c.3024G>A (p.Gln1008=)
|
rs555160408
|
0.00009
|
NM_006269.2(RP1):c.2794A>G (p.Ile932Val)
|
rs373573589
|
0.00006
|
NM_006269.2(RP1):c.4564G>A (p.Gly1522Ser)
|
rs762338185
|
0.00006
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_006269.2(RP1):c.2923A>G (p.Ile975Val)
|
rs202016292
|
0.00005
|
NM_006269.2(RP1):c.121T>C (p.Tyr41His)
|
rs746359399
|
0.00004
|
NM_006269.2(RP1):c.3155T>C (p.Val1052Ala)
|
rs546212290
|
0.00004
|
NM_006269.2(RP1):c.256C>A (p.Pro86Thr)
|
rs757674289
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)
|
rs765129639
|
0.00002
|
NM_006269.2(RP1):c.164T>A (p.Val55Asp)
|
rs1446992624
|
0.00002
|
NM_006269.2(RP1):c.2951A>G (p.Asp984Gly)
|
rs200135800
|
0.00002
|
NM_006269.2(RP1):c.4781A>G (p.Tyr1594Cys)
|
rs749707126
|
0.00002
|
NM_006269.2(RP1):c.6165C>T (p.Ser2055=)
|
rs145661075
|
0.00002
|
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)
|
rs753732597
|
0.00002
|
NM_006269.2(RP1):c.1333C>T (p.Arg445Cys)
|
rs575855591
|
0.00001
|
NM_006269.2(RP1):c.1412C>T (p.Ser471Phe)
|
rs1000614416
|
0.00001
|
NM_006269.2(RP1):c.2720T>C (p.Ile907Thr)
|
rs756250298
|
0.00001
|
NM_006269.2(RP1):c.3142G>A (p.Glu1048Lys)
|
rs1395396475
|
0.00001
|
NM_006269.2(RP1):c.314T>C (p.Leu105Pro)
|
rs760751066
|
0.00001
|
NM_006269.2(RP1):c.539T>G (p.Phe180Cys)
|
rs557432569
|
0.00001
|
NM_006269.2(RP1):c.598G>C (p.Ala200Pro)
|
rs757348446
|
0.00001
|
NM_006269.2(RP1):c.1001dup (p.Met335fs)
|
|
|
NM_006269.2(RP1):c.1047G>A (p.Trp349Ter)
|
rs1805986090
|
|
NM_006269.2(RP1):c.1078A>C (p.Asn360His)
|
|
|
NM_006269.2(RP1):c.1112G>T (p.Gly371Val)
|
|
|
NM_006269.2(RP1):c.1138T>A (p.Leu380Ile)
|
|
|
NM_006269.2(RP1):c.1185G>C (p.Glu395Asp)
|
rs1260364554
|
|
NM_006269.2(RP1):c.1193G>A (p.Ser398Asn)
|
|
|
NM_006269.2(RP1):c.129C>T (p.Ser43=)
|
|
|
NM_006269.2(RP1):c.1435A>G (p.Met479Val)
|
rs760158770
|
|
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)
|
rs1563329888
|
|
NM_006269.2(RP1):c.1462del (p.Glu488fs)
|
rs878853327
|
|
NM_006269.2(RP1):c.1496A>C (p.His499Pro)
|
|
|
NM_006269.2(RP1):c.1566C>G (p.Asn522Lys)
|
|
|
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs)
|
rs878853329
|
|
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)
|
rs750542962
|
|
NM_006269.2(RP1):c.1721C>G (p.Ser574Ter)
|
rs1806020324
|
|
NM_006269.2(RP1):c.1883A>G (p.Glu628Gly)
|
|
|
NM_006269.2(RP1):c.190G>A (p.Asp64Asn)
|
|
|
NM_006269.2(RP1):c.1981G>T (p.Glu661Ter)
|
|
|
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
|
rs104894082
|
|
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)
|
rs878853328
|
|
NM_006269.2(RP1):c.2065C>T (p.Gln689Ter)
|
|
|
NM_006269.2(RP1):c.2105_2108del (p.Ile702fs)
|
rs1806033441
|
|
NM_006269.2(RP1):c.2160C>T (p.Pro720=)
|
|
|
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)
|
rs1585563283
|
|
NM_006269.2(RP1):c.2185G>T (p.Glu729Ter)
|
|
|
NM_006269.2(RP1):c.2200del (p.Ser734fs)
|
rs1806036718
|
|
NM_006269.2(RP1):c.2219C>A (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2232T>A (p.Cys744Ter)
|
rs1806037949
|
|
NM_006269.2(RP1):c.2252C>T (p.Ser751Phe)
|
|
|
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)
|
rs869320726
|
|
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)
|
rs1488237523
|
|
NM_006269.2(RP1):c.2336_2337del (p.Lys778_Ser779insTer)
|
|
|
NM_006269.2(RP1):c.2360T>A (p.Leu787Ter)
|
rs1806043158
|
|
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter)
|
rs1365908727
|
|
NM_006269.2(RP1):c.2377A>G (p.Arg793Gly)
|
|
|
NM_006269.2(RP1):c.2430C>A (p.Cys810Ter)
|
rs1230883512
|
|
NM_006269.2(RP1):c.2560del (p.Ser854fs)
|
|
|
NM_006269.2(RP1):c.2592_2596del (p.Thr865fs)
|
|
|
NM_006269.2(RP1):c.2597del (p.Thr865_Leu866insTer)
|
|
|
NM_006269.2(RP1):c.2599A>C (p.Lys867Gln)
|
|
|
NM_006269.2(RP1):c.2599A>T (p.Lys867Ter)
|
|
|
NM_006269.2(RP1):c.2613dup (p.Arg872fs)
|
rs1449723475
|
|
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)
|
rs1554519651
|
|
NM_006269.2(RP1):c.2671del (p.Arg891fs)
|
rs1806057300
|
|
NM_006269.2(RP1):c.2704G>A (p.Asp902Asn)
|
|
|
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)
|
rs878853326
|
|
NM_006269.2(RP1):c.2756G>A (p.Trp919Ter)
|
rs779290365
|
|
NM_006269.2(RP1):c.2757G>A (p.Trp919Ter)
|
rs746396730
|
|
NM_006269.2(RP1):c.2757G>T (p.Trp919Cys)
|
rs746396730
|
|
NM_006269.2(RP1):c.2759T>G (p.Leu920Trp)
|
rs1806061278
|
|
NM_006269.2(RP1):c.2830G>A (p.Val944Met)
|
|
|
NM_006269.2(RP1):c.2933T>A (p.Ile978Asn)
|
|
|
NM_006269.2(RP1):c.2947G>A (p.Gly983Arg)
|
|
|
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
|
|
|
NM_006269.2(RP1):c.2999del (p.Gly1000fs)
|
|
|
NM_006269.2(RP1):c.3042T>C (p.Asp1014=)
|
|
|
NM_006269.2(RP1):c.3150dup (p.Leu1051fs)
|
rs1806079331
|
|
NM_006269.2(RP1):c.3171C>A (p.Asn1057Lys)
|
|
|
NM_006269.2(RP1):c.3221T>C (p.Ile1074Thr)
|
|
|
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu)
|
rs939932729
|
|
NM_006269.2(RP1):c.3669C>A (p.Cys1223Ter)
|
|
|
NM_006269.2(RP1):c.3740C>T (p.Pro1247Leu)
|
|
|
NM_006269.2(RP1):c.381G>T (p.Trp127Cys)
|
|
|
NM_006269.2(RP1):c.3827_3837del (p.Pro1276fs)
|
|
|
NM_006269.2(RP1):c.392G>A (p.Arg131Gln)
|
|
|
NM_006269.2(RP1):c.406C>T (p.His136Tyr)
|
|
|
NM_006269.2(RP1):c.4089_4092del (p.Arg1364fs)
|
|
|
NM_006269.2(RP1):c.4158A>G (p.Thr1386=)
|
|
|
NM_006269.2(RP1):c.4196del (p.Cys1399fs)
|
rs762951570
|
|
NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)
|
|
|
NM_006269.2(RP1):c.424G>A (p.Val142Ile)
|
|
|
NM_006269.2(RP1):c.4267T>A (p.Cys1423Ser)
|
|
|
NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp)
|
rs373109791
|
|
NM_006269.2(RP1):c.443G>A (p.Gly148Asp)
|
rs866545331
|
|
NM_006269.2(RP1):c.445A>C (p.Met149Leu)
|
rs778788543
|
|
NM_006269.2(RP1):c.4544T>C (p.Met1515Thr)
|
|
|
NM_006269.2(RP1):c.458del (p.Pro153fs)
|
|
|
NM_006269.2(RP1):c.4698T>G (p.Thr1566=)
|
|
|
NM_006269.2(RP1):c.4873A>T (p.Ile1625Leu)
|
|
|
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg)
|
rs527236106
|
|
NM_006269.2(RP1):c.487G>T (p.Asp163Tyr)
|
rs370436803
|
|
NM_006269.2(RP1):c.518G>T (p.Ser173Ile)
|
|
|
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)
|
rs61739567
|
|
NM_006269.2(RP1):c.6181del (p.Ile2061fs)
|
rs775367880
|
|
NM_006269.2(RP1):c.6197A>G (p.Asp2066Gly)
|
|
|
NM_006269.2(RP1):c.6330A>G (p.Gln2110=)
|
|
|
NM_006269.2(RP1):c.6421A>C (p.Ile2141Leu)
|
|
|
NM_006269.2(RP1):c.650del (p.Gly217fs)
|
rs527236105
|
|
NM_006269.2(RP1):c.668del (p.Gly223fs)
|
rs1231321479
|
|
NM_006269.2(RP1):c.742C>T (p.Gln248Ter)
|
rs769156393
|
|
NM_006269.2(RP1):c.836C>T (p.Ser279Phe)
|
rs375744003
|
|