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.4784G>A (p.Arg1595Gln)
|
rs35084330
|
0.03211
|
NM_006269.2(RP1):c.3699C>T (p.Ser1233=)
|
rs114557304
|
0.03129
|
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)
|
rs77775126
|
0.00985
|
NM_006269.2(RP1):c.2255C>T (p.Thr752Met)
|
rs28399531
|
0.00832
|
NM_006269.2(RP1):c.2991T>C (p.Asn997=)
|
rs112667487
|
0.00829
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)
|
rs149282954
|
0.00040
|
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp)
|
rs555883522
|
0.00011
|
NM_006269.2(RP1):c.1726G>A (p.Val576Met)
|
rs201008674
|
0.00007
|
NM_006269.2(RP1):c.4665A>G (p.Gly1555=)
|
rs929619376
|
0.00006
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn)
|
rs143494598
|
0.00005
|
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val)
|
rs200860068
|
0.00005
|
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala)
|
rs1043235694
|
0.00004
|
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)
|
rs201538234
|
0.00003
|
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser)
|
rs756000109
|
0.00003
|
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)
|
rs760689800
|
0.00002
|
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)
|
rs765129639
|
0.00002
|
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly)
|
rs546625124
|
0.00002
|
NM_006269.2(RP1):c.3504G>A (p.Lys1168=)
|
rs191997072
|
0.00002
|
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)
|
rs753732597
|
0.00002
|
NM_001375654.1(RP1):c.2212-1G>A
|
rs997666144
|
0.00001
|
NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter)
|
rs869320728
|
0.00001
|
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter)
|
rs765035454
|
0.00001
|
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn)
|
rs1252073669
|
0.00001
|
NM_006269.2(RP1):c.2511A>G (p.Gln837=)
|
rs753558619
|
0.00001
|
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg)
|
rs1245809381
|
0.00001
|
NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter)
|
rs1359338583
|
0.00001
|
NM_006269.2(RP1):c.615+19C>T
|
rs374595990
|
0.00001
|
NM_006269.1:c.-12-1431_*286del
|
|
|
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)
|
rs1805984836
|
|
NM_006269.2(RP1):c.1234dup (p.Met412fs)
|
rs760283610
|
|
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)
|
rs1563329888
|
|
NM_006269.2(RP1):c.1510T>C (p.Ser504Pro)
|
rs530033470
|
|
NM_006269.2(RP1):c.1994del (p.Leu665fs)
|
rs2129316359
|
|
NM_006269.2(RP1):c.2001del (p.Val668fs)
|
|
|
NM_006269.2(RP1):c.2015dup (p.Lys673fs)
|
rs2129316376
|
|
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
|
rs104894082
|
|
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)
|
rs104894083
|
|
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)
|
rs1250214380
|
|
NM_006269.2(RP1):c.2079del (p.Gly694fs)
|
rs2129316415
|
|
NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs)
|
rs2129316420
|
|
NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)
|
|
|
NM_006269.2(RP1):c.2108del (p.Asn703fs)
|
rs1806033536
|
|
NM_006269.2(RP1):c.2161del (p.Gly723fs)
|
rs755429480
|
|
NM_006269.2(RP1):c.2166del (p.Gly723fs)
|
rs2129316459
|
|
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)
|
rs869320726
|
|
NM_006269.2(RP1):c.2287_2290del (p.Asn763fs)
|
rs869320727
|
|
NM_006269.2(RP1):c.2335del (p.Ser779fs)
|
rs1563330595
|
|
NM_006269.2(RP1):c.2515C>T (p.Gln839Ter)
|
rs2129316679
|
|
NM_006269.2(RP1):c.257dup (p.Arg87fs)
|
rs1314420869
|
|
NM_006269.2(RP1):c.2613dup (p.Arg872fs)
|
rs1449723475
|
|
NM_006269.2(RP1):c.3157del (p.Tyr1053fs)
|
rs748709396
|
|
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
|
|
|
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)
|
rs561075447
|
|
NM_006269.2(RP1):c.3428del (p.Asn1143fs)
|
rs1806088809
|
|
NM_006269.2(RP1):c.368_369dup (p.Pro124fs)
|
rs1246397238
|
|
NM_006269.2(RP1):c.3843del (p.Pro1282fs)
|
rs769601671
|
|
NM_006269.2(RP1):c.4171del (p.Gln1391fs)
|
rs2129317503
|
|
NM_006269.2(RP1):c.4196del (p.Cys1399fs)
|
rs762951570
|
|
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
|
|
|
NM_006269.2(RP1):c.4636C>T (p.Gln1546Ter)
|
rs1806147660
|
|
NM_006269.2(RP1):c.4709del (p.Gly1570fs)
|
rs2129317773
|
|
NM_006269.2(RP1):c.4743dup (p.Cys1582fs)
|
rs886041040
|
|
NM_006269.2(RP1):c.510T>G (p.Val170=)
|
rs1407578080
|
|
NM_006269.2(RP1):c.532C>T (p.Gln178Ter)
|
rs2129314462
|
|
NM_006269.2(RP1):c.606C>A (p.Asp202Glu)
|
rs1805879513
|
|
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)
|
rs61739567
|
|
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)
|
rs1585569717
|
|
NM_006269.2(RP1):c.668del (p.Gly223fs)
|
rs1231321479
|
|
NM_006269.2(RP1):c.6_7del (p.Ser2fs)
|
|
|
NM_006269.2(RP1):c.788-2_790del
|
rs779627969
|
|
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
|
|
|
NM_006269.2(RP1):c.961_963del (p.Lys321del)
|
rs2129315881
|
|