Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54625000C>A | CA370989329 | RP1 | c.1118C>A (p.Thr373Lys) c.787+2712C>A (n.787+2712C>A) c.1139C>A (p.Thr380Lys) | |
8 | g.54625000C= | CA1785187700 | RP1 | c.1118C= (p.Thr373=) c.787+2712C= (n.787+2712C=) c.1139C= (p.Thr380=) | |
8 | g.54625000C>G | CA370989330 | RP1 | c.1118C>G (p.Thr373Arg) c.787+2712C>G (n.787+2712C>G) c.1139C>G (p.Thr380Arg) | |
8 | g.54625000C>T | CA202791 | RP1 | c.1118C>T (p.Thr373Ile) c.787+2712C>T (n.787+2712C>T) c.1139C>T (p.Thr380Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625001A>C | CA461097800 | RP1 | c.1119A>C (p.Thr373=) c.787+2713A>C (n.787+2713A>C) c.1140A>C (p.Thr380=) | |
8 | g.54625001A>G | CA461097801 | RP1 | c.1119A>G (p.Thr373=) c.787+2713A>G (n.787+2713A>G) c.1140A>G (p.Thr380=) | |
8 | g.54625001A>T | CA461097803 | RP1 | c.1119A>T (p.Thr373=) c.787+2713A>T (n.787+2713A>T) c.1140A>T (p.Thr380=) | |
8 | g.54625002G>A | CA370989333 | RP1 | c.1120G>A (p.Glu374Lys) c.787+2714G>A (n.787+2714G>A) c.1141G>A (p.Glu381Lys) | dbSNP |
8 | g.54625002G>C | CA370989332 | RP1 | c.1120G>C (p.Glu374Gln) c.787+2714G>C (n.787+2714G>C) c.1141G>C (p.Glu381Gln) | |
8 | g.54625002G= | CA1785187701 | RP1 | c.1120G= (p.Glu374=) c.787+2714G= (n.787+2714G=) c.1141G= (p.Glu381=) | |
8 | g.54625002G>T | CA370989331 | RP1 | c.1120G>T (p.Glu374Ter) c.787+2714G>T (n.787+2714G>T) c.1141G>T (p.Glu381Ter) | |
8 | g.54625003A>C | CA370989334 | RP1 | c.1121A>C (p.Glu374Ala) c.787+2715A>C (n.787+2715A>C) c.1142A>C (p.Glu381Ala) | |
8 | g.54625003A>G | CA370989335 | RP1 | c.1121A>G (p.Glu374Gly) c.787+2715A>G (n.787+2715A>G) c.1142A>G (p.Glu381Gly) | gnomAD v4 |
8 | g.54625003A>T | CA370989336 | RP1 | c.1121A>T (p.Glu374Val) c.787+2715A>T (n.787+2715A>T) c.1142A>T (p.Glu381Val) | |
8 | g.54625005del | CA2579168452 | RP1 | c.1123del (p.Ser375ValfsTer6) c.787+2717del (n.787+2717del) c.1144del (p.Ser382ValfsTer6) | |
8 | g.54625004A= | CA1785187702 | RP1 | c.1122A= (p.Glu374=) c.787+2716A= (n.787+2716A=) c.1143A= (p.Glu381=) | |
8 | g.54625004A>C | CA370989337 | RP1 | c.1122A>C (p.Glu374Asp) c.787+2716A>C (n.787+2716A>C) c.1143A>C (p.Glu381Asp) | |
8 | g.54625004A>G | CA461097809 | RP1 | c.1122A>G (p.Glu374=) c.787+2716A>G (n.787+2716A>G) c.1143A>G (p.Glu381=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625004A>T | CA370989338 | RP1 | c.1122A>T (p.Glu374Asp) c.787+2716A>T (n.787+2716A>T) c.1143A>T (p.Glu381Asp) | |
8 | g.54625005A= | CA1785187703 | RP1 | c.1123A= (p.Ser375=) c.787+2717A= (n.787+2717A=) c.1144A= (p.Ser382=) | |
8 | g.54625005A>C | CA370989339 | RP1 | c.1123A>C (p.Ser375Arg) c.787+2717A>C (n.787+2717A>C) c.1144A>C (p.Ser382Arg) | |
8 | g.54625005A>G | CA370989340 | RP1 | c.1123A>G (p.Ser375Gly) c.787+2717A>G (n.787+2717A>G) c.1144A>G (p.Ser382Gly) | ClinVar dbSNP gnomAD v4 |
8 | g.54625005A>T | CA370989341 | RP1 | c.1123A>T (p.Ser375Cys) c.787+2717A>T (n.787+2717A>T) c.1144A>T (p.Ser382Cys) | |
8 | g.54625006G>A | CA370989342 | RP1 | c.1124G>A (p.Ser375Asn) c.787+2718G>A (n.787+2718G>A) c.1145G>A (p.Ser382Asn) | |
8 | g.54625006G>C | CA370989343 | RP1 | c.1124G>C (p.Ser375Thr) c.787+2718G>C (n.787+2718G>C) c.1145G>C (p.Ser382Thr) | |
8 | g.54625006G>T | CA370989344 | RP1 | c.1124G>T (p.Ser375Ile) c.787+2718G>T (n.787+2718G>T) c.1145G>T (p.Ser382Ile) | |
8 | g.54625007T>A | CA370989345 | RP1 | c.1125T>A (p.Ser375Arg) c.787+2719T>A (n.787+2719T>A) c.1146T>A (p.Ser382Arg) | |
8 | g.54625007T>C | CA461097814 | RP1 | c.1125T>C (p.Ser375=) c.787+2719T>C (n.787+2719T>C) c.1146T>C (p.Ser382=) | |
8 | g.54625007T>G | CA370989346 | RP1 | c.1125T>G (p.Ser375Arg) c.787+2719T>G (n.787+2719T>G) c.1146T>G (p.Ser382Arg) | |
8 | g.54625008C>A | CA461097816 | RP1 | c.1126C>A (p.Arg376=) c.787+2720C>A (n.787+2720C>A) c.1147C>A (p.Arg383=) | |
8 | g.54625008C= | CA1785187704 | RP1 | c.1126C= (p.Arg376=) c.787+2720C= (n.787+2720C=) c.1147C= (p.Arg383=) | |
8 | g.54625008C>G | CA370989347 | RP1 | c.1126C>G (p.Arg376Gly) c.787+2720C>G (n.787+2720C>G) c.1147C>G (p.Arg383Gly) | |
8 | g.54625008C>T | CA4751325 | RP1 | c.1126C>T (p.Arg376Ter) c.787+2720C>T (n.787+2720C>T) c.1147C>T (p.Arg383Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.54625009G>A | CA370989348 | RP1 | c.1127G>A (p.Arg376Gln) c.787+2721G>A (n.787+2721G>A) c.1148G>A (p.Arg383Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.54625009G>C | CA370989349 | RP1 | c.1127G>C (p.Arg376Pro) c.787+2721G>C (n.787+2721G>C) c.1148G>C (p.Arg383Pro) | |
8 | g.54625009G= | CA1785187705 | RP1 | c.1127G= (p.Arg376=) c.787+2721G= (n.787+2721G=) c.1148G= (p.Arg383=) | |
8 | g.54625009G>T | CA370989350 | RP1 | c.1127G>T (p.Arg376Leu) c.787+2721G>T (n.787+2721G>T) c.1148G>T (p.Arg383Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625010A= | CA1785187706 | RP1 | c.1128A= (p.Arg376=) c.787+2722A= (n.787+2722A=) c.1149A= (p.Arg383=) | |
8 | g.54625010A>C | CA461097822 | RP1 | c.1128A>C (p.Arg376=) c.787+2722A>C (n.787+2722A>C) c.1149A>C (p.Arg383=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625010A>G | CA461097824 | RP1 | c.1128A>G (p.Arg376=) c.787+2722A>G (n.787+2722A>G) c.1149A>G (p.Arg383=) | |
8 | g.54625010A>T | CA461097820 | RP1 | c.1128A>T (p.Arg376=) c.787+2722A>T (n.787+2722A>T) c.1149A>T (p.Arg383=) | |
8 | g.54625011T>A | CA370989351 | RP1 | c.1129T>A (p.Ser377Thr) c.787+2723T>A (n.787+2723T>A) c.1150T>A (p.Ser384Thr) | |
8 | g.54625011T>C | CA370989352 | RP1 | c.1129T>C (p.Ser377Pro) c.787+2723T>C (n.787+2723T>C) c.1150T>C (p.Ser384Pro) | |
8 | g.54625011T>G | CA370989353 | RP1 | c.1129T>G (p.Ser377Ala) c.787+2723T>G (n.787+2723T>G) c.1150T>G (p.Ser384Ala) | |
8 | g.54625012C>A | CA370989354 | RP1 | c.1130C>A (p.Ser377Ter) c.787+2724C>A (n.787+2724C>A) c.1151C>A (p.Ser384Ter) | |
8 | g.54625012C= | CA1785187707 | RP1 | c.1130C= (p.Ser377=) c.787+2724C= (n.787+2724C=) c.1151C= (p.Ser384=) | |
8 | g.54625012C>G | CA370989355 | RP1 | c.1130C>G (p.Ser377Ter) c.787+2724C>G (n.787+2724C>G) c.1151C>G (p.Ser384Ter) | |
8 | g.54625012C>T | CA370989356 | RP1 | c.1130C>T (p.Ser377Leu) c.787+2724C>T (n.787+2724C>T) c.1151C>T (p.Ser384Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625013A= | CA1785187708 | RP1 | c.1131A= (p.Ser377=) c.787+2725A= (n.787+2725A=) c.1152A= (p.Ser384=) | |
8 | g.54625013A>C | CA4751326 | RP1 | c.1131A>C (p.Ser377=) c.787+2725A>C (n.787+2725A>C) c.1152A>C (p.Ser384=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625013A>G | CA461097829 | RP1 | c.1131A>G (p.Ser377=) c.787+2725A>G (n.787+2725A>G) c.1152A>G (p.Ser384=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625013A>T | CA461097828 | RP1 | c.1131A>T (p.Ser377=) c.787+2725A>T (n.787+2725A>T) c.1152A>T (p.Ser384=) | gnomAD v4 |
8 | g.54625014T>A | CA370989357 | RP1 | c.1132T>A (p.Ser378Thr) c.787+2726T>A (n.787+2726T>A) c.1153T>A (p.Ser385Thr) | |
8 | g.54625014T>C | CA370989358 | RP1 | c.1132T>C (p.Ser378Pro) c.787+2726T>C (n.787+2726T>C) c.1153T>C (p.Ser385Pro) | |
8 | g.54625014T>G | CA370989359 | RP1 | c.1132T>G (p.Ser378Ala) c.787+2726T>G (n.787+2726T>G) c.1153T>G (p.Ser385Ala) | |
8 | g.54625015C>A | CA370989361 | RP1 | c.1133C>A (p.Ser378Tyr) c.787+2727C>A (n.787+2727C>A) c.1154C>A (p.Ser385Tyr) | |
8 | g.54625015C= | CA1785187709 | RP1 | c.1133C= (p.Ser378=) c.787+2727C= (n.787+2727C=) c.1154C= (p.Ser385=) | |
8 | g.54625015C>G | CA370989362 | RP1 | c.1133C>G (p.Ser378Cys) c.787+2727C>G (n.787+2727C>G) c.1154C>G (p.Ser385Cys) | dbSNP |
8 | g.54625015C>T | CA370989360 | RP1 | c.1133C>T (p.Ser378Phe) c.787+2727C>T (n.787+2727C>T) c.1154C>T (p.Ser385Phe) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625016T>A | CA461097833 | RP1 | c.1134T>A (p.Ser378=) c.787+2728T>A (n.787+2728T>A) c.1155T>A (p.Ser385=) | |
8 | g.54625016T>C | CA461097835 | RP1 | c.1134T>C (p.Ser378=) c.787+2728T>C (n.787+2728T>C) c.1155T>C (p.Ser385=) | |
8 | g.54625016T>G | CA461097834 | RP1 | c.1134T>G (p.Ser378=) c.787+2728T>G (n.787+2728T>G) c.1155T>G (p.Ser385=) | |
8 | g.54625017G>A | CA370989363 | RP1 | c.1135G>A (p.Gly379Ser) c.787+2729G>A (n.787+2729G>A) c.1156G>A (p.Gly386Ser) | |
8 | g.54625017G>C | CA370989365 | RP1 | c.1135G>C (p.Gly379Arg) c.787+2729G>C (n.787+2729G>C) c.1156G>C (p.Gly386Arg) | |
8 | g.54625017G>T | CA370989364 | RP1 | c.1135G>T (p.Gly379Cys) c.787+2729G>T (n.787+2729G>T) c.1156G>T (p.Gly386Cys) | |
8 | g.54625018G>A | CA370989366 | RP1 | c.1136G>A (p.Gly379Asp) c.787+2730G>A (n.787+2730G>A) c.1157G>A (p.Gly386Asp) | |
8 | g.54625018G>C | CA370989367 | RP1 | c.1136G>C (p.Gly379Ala) c.787+2730G>C (n.787+2730G>C) c.1157G>C (p.Gly386Ala) | |
8 | g.54625018G= | CA1785187710 | RP1 | c.1136G= (p.Gly379=) c.787+2730G= (n.787+2730G=) c.1157G= (p.Gly386=) | |
8 | g.54625018G>T | CA4751327 | RP1 | c.1136G>T (p.Gly379Val) c.787+2730G>T (n.787+2730G>T) c.1157G>T (p.Gly386Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625019T>A | CA461097841 | RP1 | c.1137T>A (p.Gly379=) c.787+2731T>A (n.787+2731T>A) c.1158T>A (p.Gly386=) | |
8 | g.54625019T>C | CA461097842 | RP1 | c.1137T>C (p.Gly379=) c.787+2731T>C (n.787+2731T>C) c.1158T>C (p.Gly386=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625019T>G | CA461097843 | RP1 | c.1137T>G (p.Gly379=) c.787+2731T>G (n.787+2731T>G) c.1158T>G (p.Gly386=) | |
8 | g.54625019T= | CA1785187711 | RP1 | c.1137T= (p.Gly379=) c.787+2731T= (n.787+2731T=) c.1158T= (p.Gly386=) | |
8 | g.54625020T>A | CA4751328 | RP1 | c.1138T>A (p.Leu380Ile) c.787+2732T>A (n.787+2732T>A) c.1159T>A (p.Leu387Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625020T>C | CA461097850 | RP1 | c.1138T>C (p.Leu380=) c.787+2732T>C (n.787+2732T>C) c.1159T>C (p.Leu387=) | |
8 | g.54625020T>G | CA370989368 | RP1 | c.1138T>G (p.Leu380Val) c.787+2732T>G (n.787+2732T>G) c.1159T>G (p.Leu387Val) | |
8 | g.54625020T= | CA1785187712 | RP1 | c.1138T= (p.Leu380=) c.787+2732T= (n.787+2732T=) c.1159T= (p.Leu387=) | |
8 | g.54625021T>A | CA370989369 | RP1 | c.1139T>A (p.Leu380Ter) c.787+2733T>A (n.787+2733T>A) c.1160T>A (p.Leu387Ter) | |
8 | g.54625021T>C | CA370989370 | RP1 | c.1139T>C (p.Leu380Ser) c.787+2733T>C (n.787+2733T>C) c.1160T>C (p.Leu387Ser) | |
8 | g.54625021T>G | CA370989371 | RP1 | c.1139T>G (p.Leu380Ter) c.787+2733T>G (n.787+2733T>G) c.1160T>G (p.Leu387Ter) | |
8 | g.54625022A>C | CA370989372 | RP1 | c.1140A>C (p.Leu380Phe) c.787+2734A>C (n.787+2734A>C) c.1161A>C (p.Leu387Phe) | gnomAD v4 |
8 | g.54625022A>G | CA461097862 | RP1 | c.1140A>G (p.Leu380=) c.787+2734A>G (n.787+2734A>G) c.1161A>G (p.Leu387=) | gnomAD v4 |
8 | g.54625022A>T | CA370989373 | RP1 | c.1140A>T (p.Leu380Phe) c.787+2734A>T (n.787+2734A>T) c.1161A>T (p.Leu387Phe) | |
8 | g.54625023A>C | CA370989374 | RP1 | c.1141A>C (p.Lys381Gln) c.787+2735A>C (n.787+2735A>C) c.1162A>C (p.Lys388Gln) | |
8 | g.54625023A>G | CA370989375 | RP1 | c.1141A>G (p.Lys381Glu) c.787+2735A>G (n.787+2735A>G) c.1162A>G (p.Lys388Glu) | gnomAD v4 |
8 | g.54625023A>T | CA370989376 | RP1 | c.1141A>T (p.Lys381Ter) c.787+2735A>T (n.787+2735A>T) c.1162A>T (p.Lys388Ter) | |
8 | g.54625024A>C | CA370989379 | RP1 | c.1142A>C (p.Lys381Thr) c.787+2736A>C (n.787+2736A>C) c.1163A>C (p.Lys388Thr) | |
8 | g.54625024A>G | CA370989378 | RP1 | c.1142A>G (p.Lys381Arg) c.787+2736A>G (n.787+2736A>G) c.1163A>G (p.Lys388Arg) | |
8 | g.54625024A>T | CA370989377 | RP1 | c.1142A>T (p.Lys381Met) c.787+2736A>T (n.787+2736A>T) c.1163A>T (p.Lys388Met) | |
8 | g.54625025G>A | CA461097871 | RP1 | c.1143G>A (p.Lys381=) c.787+2737G>A (n.787+2737G>A) c.1164G>A (p.Lys388=) | gnomAD v4 |
8 | g.54625025G>C | CA370989380 | RP1 | c.1143G>C (p.Lys381Asn) c.787+2737G>C (n.787+2737G>C) c.1164G>C (p.Lys388Asn) | |
8 | g.54625025G>T | CA370989381 | RP1 | c.1143G>T (p.Lys381Asn) c.787+2737G>T (n.787+2737G>T) c.1164G>T (p.Lys388Asn) | gnomAD v4 |
8 | g.54625026C>A | CA370989382 | RP1 | c.1144C>A (p.Leu382Ile) c.787+2738C>A (n.787+2738C>A) c.1165C>A (p.Leu389Ile) | |
8 | g.54625026C>G | CA370989383 | RP1 | c.1144C>G (p.Leu382Val) c.787+2738C>G (n.787+2738C>G) c.1165C>G (p.Leu389Val) | |
8 | g.54625026C>T | CA370989384 | RP1 | c.1144C>T (p.Leu382Phe) c.787+2738C>T (n.787+2738C>T) c.1165C>T (p.Leu389Phe) | gnomAD v4 |
8 | g.54625027T>A | CA370989385 | RP1 | c.1145T>A (p.Leu382His) c.787+2739T>A (n.787+2739T>A) c.1166T>A (p.Leu389His) | |
8 | g.54625027T>C | CA370989386 | RP1 | c.1145T>C (p.Leu382Pro) c.787+2739T>C (n.787+2739T>C) c.1166T>C (p.Leu389Pro) | |
8 | g.54625027T>G | CA370989387 | RP1 | c.1145T>G (p.Leu382Arg) c.787+2739T>G (n.787+2739T>G) c.1166T>G (p.Leu389Arg) | |
8 | g.54625028T>A | CA461097878 | RP1 | c.1146T>A (p.Leu382=) c.787+2740T>A (n.787+2740T>A) c.1167T>A (p.Leu389=) | |
8 | g.54625028T>C | CA461097879 | RP1 | c.1146T>C (p.Leu382=) c.787+2740T>C (n.787+2740T>C) c.1167T>C (p.Leu389=) | gnomAD v4 |
8 | g.54625028T>G | CA461097880 | RP1 | c.1146T>G (p.Leu382=) c.787+2740T>G (n.787+2740T>G) c.1167T>G (p.Leu389=) | |
8 | g.54625029G>A | CA370989388 | RP1 | c.1147G>A (p.Ala383Thr) c.787+2741G>A (n.787+2741G>A) c.1168G>A (p.Ala390Thr) | |
8 | g.54625029G>C | CA370989389 | RP1 | c.1147G>C (p.Ala383Pro) c.787+2741G>C (n.787+2741G>C) c.1168G>C (p.Ala390Pro) | |
8 | g.54625029G>T | CA370989390 | RP1 | c.1147G>T (p.Ala383Ser) c.787+2741G>T (n.787+2741G>T) c.1168G>T (p.Ala390Ser) | |
8 | g.54625030C>A | CA370989392 | RP1 | c.1148C>A (p.Ala383Glu) c.787+2742C>A (n.787+2742C>A) c.1169C>A (p.Ala390Glu) | gnomAD v4 |
8 | g.54625030C= | CA1785187713 | RP1 | c.1148C= (p.Ala383=) c.787+2742C= (n.787+2742C=) c.1169C= (p.Ala390=) | |
8 | g.54625030C>G | CA177236637 | RP1 | c.1148C>G (p.Ala383Gly) c.787+2742C>G (n.787+2742C>G) c.1169C>G (p.Ala390Gly) | dbSNP gnomAD v4 |
8 | g.54625030C>T | CA370989391 | RP1 | c.1148C>T (p.Ala383Val) c.787+2742C>T (n.787+2742C>T) c.1169C>T (p.Ala390Val) | |
8 | g.54625031A>C | CA461097889 | RP1 | c.1149A>C (p.Ala383=) c.787+2743A>C (n.787+2743A>C) c.1170A>C (p.Ala390=) | |
8 | g.54625031A>G | CA461097894 | RP1 | c.1149A>G (p.Ala383=) c.787+2743A>G (n.787+2743A>G) c.1170A>G (p.Ala390=) | |
8 | g.54625031A>T | CA461097892 | RP1 | c.1149A>T (p.Ala383=) c.787+2743A>T (n.787+2743A>T) c.1170A>T (p.Ala390=) | |
8 | g.54625032G>A | CA370989393 | RP1 | c.1150G>A (p.Ala384Thr) c.787+2744G>A (n.787+2744G>A) c.1171G>A (p.Ala391Thr) | |
8 | g.54625032G>C | CA370989394 | RP1 | c.1150G>C (p.Ala384Pro) c.787+2744G>C (n.787+2744G>C) c.1171G>C (p.Ala391Pro) | |
8 | g.54625032G>T | CA370989395 | RP1 | c.1150G>T (p.Ala384Ser) c.787+2744G>T (n.787+2744G>T) c.1171G>T (p.Ala391Ser) | |
8 | g.54625033C>A | CA370989396 | RP1 | c.1151C>A (p.Ala384Glu) c.787+2745C>A (n.787+2745C>A) c.1172C>A (p.Ala391Glu) | gnomAD v4 |
8 | g.54625033C= | CA1785187714 | RP1 | c.1151C= (p.Ala384=) c.787+2745C= (n.787+2745C=) c.1172C= (p.Ala391=) | |
8 | g.54625033C>G | CA370989397 | RP1 | c.1151C>G (p.Ala384Gly) c.787+2745C>G (n.787+2745C>G) c.1172C>G (p.Ala391Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625033C>T | CA370989398 | RP1 | c.1151C>T (p.Ala384Val) c.787+2745C>T (n.787+2745C>T) c.1172C>T (p.Ala391Val) | |
8 | g.54625034A= | CA1785187715 | RP1 | c.1152A= (p.Ala384=) c.787+2746A= (n.787+2746A=) c.1173A= (p.Ala391=) | |
8 | g.54625034A>C | CA461097898 | RP1 | c.1152A>C (p.Ala384=) c.787+2746A>C (n.787+2746A>C) c.1173A>C (p.Ala391=) | |
8 | g.54625034A>G | CA461097899 | RP1 | c.1152A>G (p.Ala384=) c.787+2746A>G (n.787+2746A>G) c.1173A>G (p.Ala391=) | dbSNP |
8 | g.54625034A>T | CA461097900 | RP1 | c.1152A>T (p.Ala384=) c.787+2746A>T (n.787+2746A>T) c.1173A>T (p.Ala391=) | |
8 | g.54625035T>A | CA370989399 | RP1 | c.1153T>A (p.Cys385Ser) c.787+2747T>A (n.787+2747T>A) c.1174T>A (p.Cys392Ser) | |
8 | g.54625035T>C | CA370989400 | RP1 | c.1153T>C (p.Cys385Arg) c.787+2747T>C (n.787+2747T>C) c.1174T>C (p.Cys392Arg) | gnomAD v4 |
8 | g.54625035T>G | CA370989401 | RP1 | c.1153T>G (p.Cys385Gly) c.787+2747T>G (n.787+2747T>G) c.1174T>G (p.Cys392Gly) | |
8 | g.54625036G>A | CA370989402 | RP1 | c.1154G>A (p.Cys385Tyr) c.787+2748G>A (n.787+2748G>A) c.1175G>A (p.Cys392Tyr) | |
8 | g.54625036G>C | CA370989403 | RP1 | c.1154G>C (p.Cys385Ser) c.787+2748G>C (n.787+2748G>C) c.1175G>C (p.Cys392Ser) | |
8 | g.54625036G>T | CA370989404 | RP1 | c.1154G>T (p.Cys385Phe) c.787+2748G>T (n.787+2748G>T) c.1175G>T (p.Cys392Phe) | |
8 | g.54625037T>A | CA370989406 | RP1 | c.1155T>A (p.Cys385Ter) c.787+2749T>A (n.787+2749T>A) c.1176T>A (p.Cys392Ter) | |
8 | g.54625037T>C | CA461097905 | RP1 | c.1155T>C (p.Cys385=) c.787+2749T>C (n.787+2749T>C) c.1176T>C (p.Cys392=) | |
8 | g.54625037T>G | CA370989405 | RP1 | c.1155T>G (p.Cys385Trp) c.787+2749T>G (n.787+2749T>G) c.1176T>G (p.Cys392Trp) | |
8 | g.54625038T>A | CA370989407 | RP1 | c.1156T>A (p.Ser386Thr) c.787+2750T>A (n.787+2750T>A) c.1177T>A (p.Ser393Thr) | |
8 | g.54625038T>C | CA370989408 | RP1 | c.1156T>C (p.Ser386Pro) c.787+2750T>C (n.787+2750T>C) c.1177T>C (p.Ser393Pro) | |
8 | g.54625038T>G | CA370989409 | RP1 | c.1156T>G (p.Ser386Ala) c.787+2750T>G (n.787+2750T>G) c.1177T>G (p.Ser393Ala) | |
8 | g.54625039C>A | CA370989410 | RP1 | c.1157C>A (p.Ser386Ter) c.787+2751C>A (n.787+2751C>A) c.1178C>A (p.Ser393Ter) | |
8 | g.54625039C= | CA1785187716 | RP1 | c.1157C= (p.Ser386=) c.787+2751C= (n.787+2751C=) c.1178C= (p.Ser393=) | |
8 | g.54625039C>G | CA370989411 | RP1 | c.1157C>G (p.Ser386Ter) c.787+2751C>G (n.787+2751C>G) c.1178C>G (p.Ser393Ter) | |
8 | g.54625039C>T | CA177236639 | RP1 | c.1157C>T (p.Ser386Leu) c.787+2751C>T (n.787+2751C>T) c.1178C>T (p.Ser393Leu) | dbSNP |
8 | g.54625040A= | CA1785187717 | RP1 | c.1158A= (p.Ser386=) c.787+2752A= (n.787+2752A=) c.1179A= (p.Ser393=) | |
8 | g.54625040A>C | CA461097913 | RP1 | c.1158A>C (p.Ser386=) c.787+2752A>C (n.787+2752A>C) c.1179A>C (p.Ser393=) | dbSNP gnomAD v4 |
8 | g.54625040A>G | CA4751329 | RP1 | c.1158A>G (p.Ser386=) c.787+2752A>G (n.787+2752A>G) c.1179A>G (p.Ser393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625040A>T | CA461097916 | RP1 | c.1158A>T (p.Ser386=) c.787+2752A>T (n.787+2752A>T) c.1179A>T (p.Ser393=) | ClinVar dbSNP gnomAD v4 |
8 | g.54625041T>A | CA370989412 | RP1 | c.1159T>A (p.Phe387Ile) c.787+2753T>A (n.787+2753T>A) c.1180T>A (p.Phe394Ile) | |
8 | g.54625041T>C | CA370989413 | RP1 | c.1159T>C (p.Phe387Leu) c.787+2753T>C (n.787+2753T>C) c.1180T>C (p.Phe394Leu) | |
8 | g.54625041T>G | CA370989414 | RP1 | c.1159T>G (p.Phe387Val) c.787+2753T>G (n.787+2753T>G) c.1180T>G (p.Phe394Val) | |
8 | g.54625042T>A | CA370989415 | RP1 | c.1160T>A (p.Phe387Tyr) c.787+2754T>A (n.787+2754T>A) c.1181T>A (p.Phe394Tyr) | |
8 | g.54625042T>C | CA370989416 | RP1 | c.1160T>C (p.Phe387Ser) c.787+2754T>C (n.787+2754T>C) c.1181T>C (p.Phe394Ser) | |
8 | g.54625042T>G | CA370989417 | RP1 | c.1160T>G (p.Phe387Cys) c.787+2754T>G (n.787+2754T>G) c.1181T>G (p.Phe394Cys) | |
8 | g.54625043C>A | CA370989419 | RP1 | c.1161C>A (p.Phe387Leu) c.787+2755C>A (n.787+2755C>A) c.1182C>A (p.Phe394Leu) | |
8 | g.54625043C>G | CA370989418 | RP1 | c.1161C>G (p.Phe387Leu) c.787+2755C>G (n.787+2755C>G) c.1182C>G (p.Phe394Leu) | |
8 | g.54625043C>T | CA461097923 | RP1 | c.1161C>T (p.Phe387=) c.787+2755C>T (n.787+2755C>T) c.1182C>T (p.Phe394=) | |
8 | g.54625044T>A | CA370989420 | RP1 | c.1162T>A (p.Ser388Thr) c.787+2756T>A (n.787+2756T>A) c.1183T>A (p.Ser395Thr) | |
8 | g.54625044T>C | CA370989422 | RP1 | c.1162T>C (p.Ser388Pro) c.787+2756T>C (n.787+2756T>C) c.1183T>C (p.Ser395Pro) | |
8 | g.54625044T>G | CA370989421 | RP1 | c.1162T>G (p.Ser388Ala) c.787+2756T>G (n.787+2756T>G) c.1183T>G (p.Ser395Ala) | |
8 | g.54625045C>A | CA370989423 | RP1 | c.1163C>A (p.Ser388Tyr) c.787+2757C>A (n.787+2757C>A) c.1184C>A (p.Ser395Tyr) | |
8 | g.54625045C= | CA1785187718 | RP1 | c.1163C= (p.Ser388=) c.787+2757C= (n.787+2757C=) c.1184C= (p.Ser395=) | |
8 | g.54625045C>G | CA370989424 | RP1 | c.1163C>G (p.Ser388Cys) c.787+2757C>G (n.787+2757C>G) c.1184C>G (p.Ser395Cys) | |
8 | g.54625045C>T | CA177236642 | RP1 | c.1163C>T (p.Ser388Phe) c.787+2757C>T (n.787+2757C>T) c.1184C>T (p.Ser395Phe) | dbSNP gnomAD v4 |
8 | g.54625046T>A | CA461097931 | RP1 | c.1164T>A (p.Ser388=) c.787+2758T>A (n.787+2758T>A) c.1185T>A (p.Ser395=) | |
8 | g.54625046T>C | CA461097932 | RP1 | c.1164T>C (p.Ser388=) c.787+2758T>C (n.787+2758T>C) c.1185T>C (p.Ser395=) | |
8 | g.54625046T>G | CA461097933 | RP1 | c.1164T>G (p.Ser388=) c.787+2758T>G (n.787+2758T>G) c.1185T>G (p.Ser395=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625046T= | CA1785187719 | RP1 | c.1164T= (p.Ser388=) c.787+2758T= (n.787+2758T=) c.1185T= (p.Ser395=) | |
8 | g.54625047G>A | CA370989425 | RP1 | c.1165G>A (p.Ala389Thr) c.787+2759G>A (n.787+2759G>A) c.1186G>A (p.Ala396Thr) | gnomAD v4 |
8 | g.54625047G>C | CA370989426 | RP1 | c.1165G>C (p.Ala389Pro) c.787+2759G>C (n.787+2759G>C) c.1186G>C (p.Ala396Pro) | |
8 | g.54625047G>T | CA370989427 | RP1 | c.1165G>T (p.Ala389Ser) c.787+2759G>T (n.787+2759G>T) c.1186G>T (p.Ala396Ser) | COSMIC |
8 | g.54625048C>A | CA370989428 | RP1 | c.1166C>A (p.Ala389Glu) c.787+2760C>A (n.787+2760C>A) c.1187C>A (p.Ala396Glu) | ClinVar dbSNP |
8 | g.54625048C>G | CA370989429 | RP1 | c.1166C>G (p.Ala389Gly) c.787+2760C>G (n.787+2760C>G) c.1187C>G (p.Ala396Gly) | |
8 | g.54625048C>T | CA370989430 | RP1 | c.1166C>T (p.Ala389Val) c.787+2760C>T (n.787+2760C>T) c.1187C>T (p.Ala396Val) | |
8 | g.54625049A>C | CA461097940 | RP1 | c.1167A>C (p.Ala389=) c.787+2761A>C (n.787+2761A>C) c.1188A>C (p.Ala396=) | |
8 | g.54625049A>G | CA461097942 | RP1 | c.1167A>G (p.Ala389=) c.787+2761A>G (n.787+2761A>G) c.1188A>G (p.Ala396=) | |
8 | g.54625049A>T | CA461097945 | RP1 | c.1167A>T (p.Ala389=) c.787+2761A>T (n.787+2761A>T) c.1188A>T (p.Ala396=) | |
8 | g.54625050G>A | CA370989431 | RP1 | c.1168G>A (p.Asp390Asn) c.787+2762G>A (n.787+2762G>A) c.1189G>A (p.Asp397Asn) | gnomAD v4 |
8 | g.54625050G>C | CA370989432 | RP1 | c.1168G>C (p.Asp390His) c.787+2762G>C (n.787+2762G>C) c.1189G>C (p.Asp397His) | |
8 | g.54625050G>T | CA370989433 | RP1 | c.1168G>T (p.Asp390Tyr) c.787+2762G>T (n.787+2762G>T) c.1189G>T (p.Asp397Tyr) | gnomAD v4 |
8 | g.54625051A>C | CA370989436 | RP1 | c.1169A>C (p.Asp390Ala) c.787+2763A>C (n.787+2763A>C) c.1190A>C (p.Asp397Ala) | |
8 | g.54625051A>G | CA370989434 | RP1 | c.1169A>G (p.Asp390Gly) c.787+2763A>G (n.787+2763A>G) c.1190A>G (p.Asp397Gly) | gnomAD v4 |
8 | g.54625051A>T | CA370989435 | RP1 | c.1169A>T (p.Asp390Val) c.787+2763A>T (n.787+2763A>T) c.1190A>T (p.Asp397Val) | gnomAD v4 |
8 | g.54625052T>A | CA370989437 | RP1 | c.1170T>A (p.Asp390Glu) c.787+2764T>A (n.787+2764T>A) c.1191T>A (p.Asp397Glu) | |
8 | g.54625052T>C | CA461097953 | RP1 | c.1170T>C (p.Asp390=) c.787+2764T>C (n.787+2764T>C) c.1191T>C (p.Asp397=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625052T>G | CA370989438 | RP1 | c.1170T>G (p.Asp390Glu) c.787+2764T>G (n.787+2764T>G) c.1191T>G (p.Asp397Glu) | |
8 | g.54625052T= | CA1785187720 | RP1 | c.1170T= (p.Asp390=) c.787+2764T= (n.787+2764T=) c.1191T= (p.Asp397=) | |
8 | g.54625053G>A | CA370989439 | RP1 | c.1171G>A (p.Val391Met) c.787+2765G>A (n.787+2765G>A) c.1192G>A (p.Val398Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625053G>C | CA370989440 | RP1 | c.1171G>C (p.Val391Leu) c.787+2765G>C (n.787+2765G>C) c.1192G>C (p.Val398Leu) | |
8 | g.54625053G= | CA1785187721 | RP1 | c.1171G= (p.Val391=) c.787+2765G= (n.787+2765G=) c.1192G= (p.Val398=) | |
8 | g.54625053G>T | CA370989441 | RP1 | c.1171G>T (p.Val391Leu) c.787+2765G>T (n.787+2765G>T) c.1192G>T (p.Val398Leu) | |
8 | g.54625054T>A | CA177236644 | RP1 | c.1172T>A (p.Val391Glu) c.787+2766T>A (n.787+2766T>A) c.1193T>A (p.Val398Glu) | ClinVar dbSNP |
8 | g.54625054T>C | CA370989442 | RP1 | c.1172T>C (p.Val391Ala) c.787+2766T>C (n.787+2766T>C) c.1193T>C (p.Val398Ala) | |
8 | g.54625054T>G | CA370989443 | RP1 | c.1172T>G (p.Val391Gly) c.787+2766T>G (n.787+2766T>G) c.1193T>G (p.Val398Gly) | |
8 | g.54625054T= | CA1785187722 | RP1 | c.1172T= (p.Val391=) c.787+2766T= (n.787+2766T=) c.1193T= (p.Val398=) | |
8 | g.54625054_54625056del | CA2687300915 | RP1 | c.1172_1174del (p.Val391_Ser392delinsAla) c.787+2766_787+2768del (n.787+2766_787+2768del) c.1193_1195del (p.Val398_Ser399delinsAla) | gnomAD v4 |
8 | g.54625055G>A | CA461097963 | RP1 | c.1173G>A (p.Val391=) c.787+2767G>A (n.787+2767G>A) c.1194G>A (p.Val398=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625055G>C | CA461097961 | RP1 | c.1173G>C (p.Val391=) c.787+2767G>C (n.787+2767G>C) c.1194G>C (p.Val398=) | |
8 | g.54625055G= | CA1785187723 | RP1 | c.1173G= (p.Val391=) c.787+2767G= (n.787+2767G=) c.1194G= (p.Val398=) | |
8 | g.54625055G>T | CA461097962 | RP1 | c.1173G>T (p.Val391=) c.787+2767G>T (n.787+2767G>T) c.1194G>T (p.Val398=) | |
8 | g.54625056T>A | CA370989444 | RP1 | c.1174T>A (p.Ser392Thr) c.787+2768T>A (n.787+2768T>A) c.1195T>A (p.Ser399Thr) | |
8 | g.54625056T>C | CA370989445 | RP1 | c.1174T>C (p.Ser392Pro) c.787+2768T>C (n.787+2768T>C) c.1195T>C (p.Ser399Pro) | |
8 | g.54625056T>G | CA370989446 | RP1 | c.1174T>G (p.Ser392Ala) c.787+2768T>G (n.787+2768T>G) c.1195T>G (p.Ser399Ala) | |
8 | g.54625057C>A | CA370989448 | RP1 | c.1175C>A (p.Ser392Ter) c.787+2769C>A (n.787+2769C>A) c.1196C>A (p.Ser399Ter) | gnomAD v4 |
8 | g.54625057C= | CA1785187724 | RP1 | c.1175C= (p.Ser392=) c.787+2769C= (n.787+2769C=) c.1196C= (p.Ser399=) | |
8 | g.54625057C>G | CA370989447 | RP1 | c.1175C>G (p.Ser392Ter) c.787+2769C>G (n.787+2769C>G) c.1196C>G (p.Ser399Ter) | gnomAD v4 |
8 | g.54625057C>T | CA4751330 | RP1 | c.1175C>T (p.Ser392Leu) c.787+2769C>T (n.787+2769C>T) c.1196C>T (p.Ser399Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.54625058A>C | CA461097969 | RP1 | c.1176A>C (p.Ser392=) c.787+2770A>C (n.787+2770A>C) c.1197A>C (p.Ser399=) | |
8 | g.54625058A>G | CA461097971 | RP1 | c.1176A>G (p.Ser392=) c.787+2770A>G (n.787+2770A>G) c.1197A>G (p.Ser399=) | |
8 | g.54625058A>T | CA461097970 | RP1 | c.1176A>T (p.Ser392=) c.787+2770A>T (n.787+2770A>T) c.1197A>T (p.Ser399=) | |
8 | g.54625059C>A | CA370989449 | RP1 | c.1177C>A (p.Pro393Thr) c.787+2771C>A (n.787+2771C>A) c.1198C>A (p.Pro400Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625059C= | CA1785187725 | RP1 | c.1177C= (p.Pro393=) c.787+2771C= (n.787+2771C=) c.1198C= (p.Pro400=) | |
8 | g.54625059C>G | CA370989450 | RP1 | c.1177C>G (p.Pro393Ala) c.787+2771C>G (n.787+2771C>G) c.1198C>G (p.Pro400Ala) | |
8 | g.54625059C>T | CA370989451 | RP1 | c.1177C>T (p.Pro393Ser) c.787+2771C>T (n.787+2771C>T) c.1198C>T (p.Pro400Ser) | |
8 | g.54625060C>A | CA370989452 | RP1 | c.1178C>A (p.Pro393His) c.787+2772C>A (n.787+2772C>A) c.1199C>A (p.Pro400His) | |
8 | g.54625060C= | CA1785187726 | RP1 | c.1178C= (p.Pro393=) c.787+2772C= (n.787+2772C=) c.1199C= (p.Pro400=) | |
8 | g.54625060C>G | CA370989453 | RP1 | c.1178C>G (p.Pro393Arg) c.787+2772C>G (n.787+2772C>G) c.1199C>G (p.Pro400Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625060C>T | CA370989454 | RP1 | c.1178C>T (p.Pro393Leu) c.787+2772C>T (n.787+2772C>T) c.1199C>T (p.Pro400Leu) | |
8 | g.54625060_54625061del | CA2687300916 | RP1 | c.1178_1179del (p.Pro393HisfsTer6) c.787+2772_787+2773del (n.787+2772_787+2773del) c.1199_1200del (p.Pro400HisfsTer6) | gnomAD v4 |
8 | g.54625061T>A | CA461097975 | RP1 | c.1179T>A (p.Pro393=) c.787+2773T>A (n.787+2773T>A) c.1200T>A (p.Pro400=) | |
8 | g.54625061T>C | CA461097976 | RP1 | c.1179T>C (p.Pro393=) c.787+2773T>C (n.787+2773T>C) c.1200T>C (p.Pro400=) | dbSNP gnomAD v4 |
8 | g.54625061T>G | CA461097981 | RP1 | c.1179T>G (p.Pro393=) c.787+2773T>G (n.787+2773T>G) c.1200T>G (p.Pro400=) | |
8 | g.54625061T= | CA1785187727 | RP1 | c.1179T= (p.Pro393=) c.787+2773T= (n.787+2773T=) c.1200T= (p.Pro400=) | |
8 | g.54625062A= | CA1785187728 | RP1 | c.1180A= (p.Met394=) c.787+2774A= (n.787+2774A=) c.1201A= (p.Met401=) | |
8 | g.54625062A>C | CA177236647 | RP1 | c.1180A>C (p.Met394Leu) c.787+2774A>C (n.787+2774A>C) c.1201A>C (p.Met401Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625062A>G | CA4751331 | RP1 | c.1180A>G (p.Met394Val) c.787+2774A>G (n.787+2774A>G) c.1201A>G (p.Met401Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625062A>T | CA177236652 | RP1 | c.1180A>T (p.Met394Leu) c.787+2774A>T (n.787+2774A>T) c.1201A>T (p.Met401Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.54625063T>A | CA370989455 | RP1 | c.1181T>A (p.Met394Lys) c.787+2775T>A (n.787+2775T>A) c.1202T>A (p.Met401Lys) | |
8 | g.54625063T>C | CA370989456 | RP1 | c.1181T>C (p.Met394Thr) c.787+2775T>C (n.787+2775T>C) c.1202T>C (p.Met401Thr) | |
8 | g.54625063T>G | CA370989457 | RP1 | c.1181T>G (p.Met394Arg) c.787+2775T>G (n.787+2775T>G) c.1202T>G (p.Met401Arg) | |
8 | g.54625063_54625064del | CA2687300917 | RP1 | c.1181_1182del (p.Met394ArgfsTer5) c.787+2775_787+2776del (n.787+2775_787+2776del) c.1202_1203del (p.Met401ArgfsTer5) | gnomAD v4 |
8 | g.54625064G>A | CA370989460 | RP1 | c.1182G>A (p.Met394Ile) c.787+2776G>A (n.787+2776G>A) c.1203G>A (p.Met401Ile) | |
8 | g.54625064G>C | CA370989459 | RP1 | c.1182G>C (p.Met394Ile) c.787+2776G>C (n.787+2776G>C) c.1203G>C (p.Met401Ile) | |
8 | g.54625064G>T | CA370989458 | RP1 | c.1182G>T (p.Met394Ile) c.787+2776G>T (n.787+2776G>T) c.1203G>T (p.Met401Ile) | |
8 | g.54625065G>A | CA4751332 | RP1 | c.1183G>A (p.Glu395Lys) c.787+2777G>A (n.787+2777G>A) c.1204G>A (p.Glu402Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625065G>C | CA370989461 | RP1 | c.1183G>C (p.Glu395Gln) c.787+2777G>C (n.787+2777G>C) c.1204G>C (p.Glu402Gln) | |
8 | g.54625065G= | CA1785187729 | RP1 | c.1183G= (p.Glu395=) c.787+2777G= (n.787+2777G=) c.1204G= (p.Glu402=) | |
8 | g.54625065G>T | CA370989462 | RP1 | c.1183G>T (p.Glu395Ter) c.787+2777G>T (n.787+2777G>T) c.1204G>T (p.Glu402Ter) | ClinVar dbSNP |
8 | g.54625066A>C | CA370989463 | RP1 | c.1184A>C (p.Glu395Ala) c.787+2778A>C (n.787+2778A>C) c.1205A>C (p.Glu402Ala) | |
8 | g.54625066A>G | CA370989464 | RP1 | c.1184A>G (p.Glu395Gly) c.787+2778A>G (n.787+2778A>G) c.1205A>G (p.Glu402Gly) | |
8 | g.54625066A>T | CA370989465 | RP1 | c.1184A>T (p.Glu395Val) c.787+2778A>T (n.787+2778A>T) c.1205A>T (p.Glu402Val) | |
8 | g.54625067G>A | CA461097998 | RP1 | c.1185G>A (p.Glu395=) c.787+2779G>A (n.787+2779G>A) c.1206G>A (p.Glu402=) | dbSNP |
8 | g.54625067G>C | CA370989466 | RP1 | c.1185G>C (p.Glu395Asp) c.787+2779G>C (n.787+2779G>C) c.1206G>C (p.Glu402Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625067G= | CA1785187730 | RP1 | c.1185G= (p.Glu395=) c.787+2779G= (n.787+2779G=) c.1206G= (p.Glu402=) | |
8 | g.54625067G>T | CA370989467 | RP1 | c.1185G>T (p.Glu395Asp) c.787+2779G>T (n.787+2779G>T) c.1206G>T (p.Glu402Asp) | |
8 | g.54625068C>A | CA461098004 | RP1 | c.1186C>A (p.Arg396=) c.787+2780C>A (n.787+2780C>A) c.1207C>A (p.Arg403=) | |
8 | g.54625068C= | CA1785187731 | RP1 | c.1186C= (p.Arg396=) c.787+2780C= (n.787+2780C=) c.1207C= (p.Arg403=) | |
8 | g.54625068C>G | CA370989468 | RP1 | c.1186C>G (p.Arg396Gly) c.787+2780C>G (n.787+2780C>G) c.1207C>G (p.Arg403Gly) | |
8 | g.54625068C>T | CA270091 | RP1 | c.1186C>T (p.Arg396Ter) c.787+2780C>T (n.787+2780C>T) c.1207C>T (p.Arg403Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625069G>A | CA4751333 | RP1 | c.1187G>A (p.Arg396Gln) c.787+2781G>A (n.787+2781G>A) c.1208G>A (p.Arg403Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.54625069G>C | CA370989469 | RP1 | c.1187G>C (p.Arg396Pro) c.787+2781G>C (n.787+2781G>C) c.1208G>C (p.Arg403Pro) | |
8 | g.54625069G= | CA1785187732 | RP1 | c.1187G= (p.Arg396=) c.787+2781G= (n.787+2781G=) c.1208G= (p.Arg403=) | |
8 | g.54625069G>T | CA370989470 | RP1 | c.1187G>T (p.Arg396Leu) c.787+2781G>T (n.787+2781G>T) c.1208G>T (p.Arg403Leu) | |
8 | g.54625070A>C | CA461098009 | RP1 | c.1188A>C (p.Arg396=) c.787+2782A>C (n.787+2782A>C) c.1209A>C (p.Arg403=) | |
8 | g.54625070A>G | CA461098012 | RP1 | c.1188A>G (p.Arg396=) c.787+2782A>G (n.787+2782A>G) c.1209A>G (p.Arg403=) | |
8 | g.54625070A>T | CA461098014 | RP1 | c.1188A>T (p.Arg396=) c.787+2782A>T (n.787+2782A>T) c.1209A>T (p.Arg403=) | |
8 | g.54625071A>C | CA370989472 | RP1 | c.1189A>C (p.Ser397Arg) c.787+2783A>C (n.787+2783A>C) c.1210A>C (p.Ser404Arg) | |
8 | g.54625071A>G | CA370989473 | RP1 | c.1189A>G (p.Ser397Gly) c.787+2783A>G (n.787+2783A>G) c.1210A>G (p.Ser404Gly) | |
8 | g.54625071A>T | CA370989471 | RP1 | c.1189A>T (p.Ser397Cys) c.787+2783A>T (n.787+2783A>T) c.1210A>T (p.Ser404Cys) | |
8 | g.54625072G>A | CA370989475 | RP1 | c.1190G>A (p.Ser397Asn) c.787+2784G>A (n.787+2784G>A) c.1211G>A (p.Ser404Asn) | dbSNP gnomAD v4 |
8 | g.54625072G>C | CA370989474 | RP1 | c.1190G>C (p.Ser397Thr) c.787+2784G>C (n.787+2784G>C) c.1211G>C (p.Ser404Thr) | |
8 | g.54625072G>T | CA370989476 | RP1 | c.1190G>T (p.Ser397Ile) c.787+2784G>T (n.787+2784G>T) c.1211G>T (p.Ser404Ile) | COSMIC |
8 | g.54625073C>A | CA370989477 | RP1 | c.1191C>A (p.Ser397Arg) c.787+2785C>A (n.787+2785C>A) c.1212C>A (p.Ser404Arg) | |
8 | g.54625073C>G | CA370989478 | RP1 | c.1191C>G (p.Ser397Arg) c.787+2785C>G (n.787+2785C>G) c.1212C>G (p.Ser404Arg) | |
8 | g.54625073C>T | CA461098019 | RP1 | c.1191C>T (p.Ser397=) c.787+2785C>T (n.787+2785C>T) c.1212C>T (p.Ser404=) | |
8 | g.54625074A= | CA1785187733 | RP1 | c.1192A= (p.Ser398=) c.787+2786A= (n.787+2786A=) c.1213A= (p.Ser405=) | |
8 | g.54625074A>C | CA370989479 | RP1 | c.1192A>C (p.Ser398Arg) c.787+2786A>C (n.787+2786A>C) c.1213A>C (p.Ser405Arg) | |
8 | g.54625074A>G | CA4751334 | RP1 | c.1192A>G (p.Ser398Gly) c.787+2786A>G (n.787+2786A>G) c.1213A>G (p.Ser405Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625074A>T | CA370989480 | RP1 | c.1192A>T (p.Ser398Cys) c.787+2786A>T (n.787+2786A>T) c.1213A>T (p.Ser405Cys) | |
8 | g.54625075G>A | CA4751335 | RP1 | c.1193G>A (p.Ser398Asn) c.787+2787G>A (n.787+2787G>A) c.1214G>A (p.Ser405Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625075G>C | CA370989481 | RP1 | c.1193G>C (p.Ser398Thr) c.787+2787G>C (n.787+2787G>C) c.1214G>C (p.Ser405Thr) | |
8 | g.54625075G= | CA1785187734 | RP1 | c.1193G= (p.Ser398=) c.787+2787G= (n.787+2787G=) c.1214G= (p.Ser405=) | |
8 | g.54625075G>T | CA370989482 | RP1 | c.1193G>T (p.Ser398Ile) c.787+2787G>T (n.787+2787G>T) c.1214G>T (p.Ser405Ile) | |
8 | g.54625076T>A | CA370989483 | RP1 | c.1194T>A (p.Ser398Arg) c.787+2788T>A (n.787+2788T>A) c.1215T>A (p.Ser405Arg) | |
8 | g.54625076T>C | CA461098032 | RP1 | c.1194T>C (p.Ser398=) c.787+2788T>C (n.787+2788T>C) c.1215T>C (p.Ser405=) | |
8 | g.54625076T>G | CA370989484 | RP1 | c.1194T>G (p.Ser398Arg) c.787+2788T>G (n.787+2788T>G) c.1215T>G (p.Ser405Arg) | |
8 | g.54625077A>C | CA370989485 | RP1 | c.1195A>C (p.Asn399His) c.787+2789A>C (n.787+2789A>C) c.1216A>C (p.Asn406His) | |
8 | g.54625077A>G | CA370989486 | RP1 | c.1195A>G (p.Asn399Asp) c.787+2789A>G (n.787+2789A>G) c.1216A>G (p.Asn406Asp) | |
8 | g.54625077A>T | CA370989487 | RP1 | c.1195A>T (p.Asn399Tyr) c.787+2789A>T (n.787+2789A>T) c.1216A>T (p.Asn406Tyr) | |
8 | g.54625078A>C | CA370989488 | RP1 | c.1196A>C (p.Asn399Thr) c.787+2790A>C (n.787+2790A>C) c.1217A>C (p.Asn406Thr) | |
8 | g.54625078A>G | CA370989489 | RP1 | c.1196A>G (p.Asn399Ser) c.787+2790A>G (n.787+2790A>G) c.1217A>G (p.Asn406Ser) | |
8 | g.54625078A>T | CA370989490 | RP1 | c.1196A>T (p.Asn399Ile) c.787+2790A>T (n.787+2790A>T) c.1217A>T (p.Asn406Ile) | |
8 | g.54625078_54625079delinsAT | CA1785187735 | RP1 | c.1196_1197delinsAT (p.Asn399=) c.787+2790_787+2791delinsAT (n.787+2790_787+2791delinsAT) c.1217_1218delinsAT (p.Asn406=) | |
8 | g.54625079del | CA1114023539 | RP1 | c.1197del (p.Gln400LysfsTer9) c.787+2791del (n.787+2791del) c.1218del (p.Gln407LysfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625079T>A | CA370989492 | RP1 | c.1197T>A (p.Asn399Lys) c.787+2791T>A (n.787+2791T>A) c.1218T>A (p.Asn406Lys) | |
8 | g.54625079T>C | CA461098038 | RP1 | c.1197T>C (p.Asn399=) c.787+2791T>C (n.787+2791T>C) c.1218T>C (p.Asn406=) | gnomAD v4 |
8 | g.54625079T>G | CA370989491 | RP1 | c.1197T>G (p.Asn399Lys) c.787+2791T>G (n.787+2791T>G) c.1218T>G (p.Asn406Lys) | gnomAD v4 |
8 | g.54625080C>A | CA370989493 | RP1 | c.1198C>A (p.Gln400Lys) c.787+2792C>A (n.787+2792C>A) c.1219C>A (p.Gln407Lys) | gnomAD v4 |
8 | g.54625080C>G | CA370989494 | RP1 | c.1198C>G (p.Gln400Glu) c.787+2792C>G (n.787+2792C>G) c.1219C>G (p.Gln407Glu) | gnomAD v4 |
8 | g.54625080C>T | CA370989495 | RP1 | c.1198C>T (p.Gln400Ter) c.787+2792C>T (n.787+2792C>T) c.1219C>T (p.Gln407Ter) | COSMIC |
8 | g.54625081A>C | CA370989496 | RP1 | c.1199A>C (p.Gln400Pro) c.787+2793A>C (n.787+2793A>C) c.1220A>C (p.Gln407Pro) | |
8 | g.54625081A>G | CA370989497 | RP1 | c.1199A>G (p.Gln400Arg) c.787+2793A>G (n.787+2793A>G) c.1220A>G (p.Gln407Arg) | |
8 | g.54625081A>T | CA370989498 | RP1 | c.1199A>T (p.Gln400Leu) c.787+2793A>T (n.787+2793A>T) c.1220A>T (p.Gln407Leu) | |
8 | g.54625081_54625082del | CA2580078483 | RP1 | c.1199_1200del (p.Gln400ArgfsTer18) c.787+2793_787+2794del (n.787+2793_787+2794del) c.1220_1221del (p.Gln407ArgfsTer18) | ClinVar |
8 | g.54625082A>C | CA370989499 | RP1 | c.1200A>C (p.Gln400His) c.787+2794A>C (n.787+2794A>C) c.1221A>C (p.Gln407His) | |
8 | g.54625082A>G | CA461098050 | RP1 | c.1200A>G (p.Gln400=) c.787+2794A>G (n.787+2794A>G) c.1221A>G (p.Gln407=) | |
8 | g.54625082A>T | CA370989501 | RP1 | c.1200A>T (p.Gln400His) c.787+2794A>T (n.787+2794A>T) c.1221A>T (p.Gln407His) | |
8 | g.54625083G>A | CA370989502 | RP1 | c.1201G>A (p.Glu401Lys) c.787+2795G>A (n.787+2795G>A) c.1222G>A (p.Glu408Lys) | gnomAD v4 |
8 | g.54625083G>C | CA370989504 | RP1 | c.1201G>C (p.Glu401Gln) c.787+2795G>C (n.787+2795G>C) c.1222G>C (p.Glu408Gln) | |
8 | g.54625083G>T | CA370989505 | RP1 | c.1201G>T (p.Glu401Ter) c.787+2795G>T (n.787+2795G>T) c.1222G>T (p.Glu408Ter) | |
8 | g.54625084A>C | CA370989509 | RP1 | c.1202A>C (p.Glu401Ala) c.787+2796A>C (n.787+2796A>C) c.1223A>C (p.Glu408Ala) | |
8 | g.54625084A>G | CA370989507 | RP1 | c.1202A>G (p.Glu401Gly) c.787+2796A>G (n.787+2796A>G) c.1223A>G (p.Glu408Gly) | |
8 | g.54625084A>T | CA370989506 | RP1 | c.1202A>T (p.Glu401Val) c.787+2796A>T (n.787+2796A>T) c.1223A>T (p.Glu408Val) | |
8 | g.54625085G>A | CA4751336 | RP1 | c.1203G>A (p.Glu401=) c.787+2797G>A (n.787+2797G>A) c.1224G>A (p.Glu408=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625085G>C | CA370989511 | RP1 | c.1203G>C (p.Glu401Asp) c.787+2797G>C (n.787+2797G>C) c.1224G>C (p.Glu408Asp) | |
8 | g.54625085G= | CA1785187736 | RP1 | c.1203G= (p.Glu401=) c.787+2797G= (n.787+2797G=) c.1224G= (p.Glu408=) | |
8 | g.54625085G>T | CA370989513 | RP1 | c.1203G>T (p.Glu401Asp) c.787+2797G>T (n.787+2797G>T) c.1224G>T (p.Glu408Asp) | |
8 | g.54625087del | CA2695209254 | RP1 | c.1205del (p.Gly402AlafsTer7) c.787+2799del (n.787+2799del) c.1226del (p.Gly409AlafsTer7) | |
8 | g.54625086G>A | CA370989514 | RP1 | c.1204G>A (p.Gly402Ser) c.787+2798G>A (n.787+2798G>A) c.1225G>A (p.Gly409Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.54625086G>C | CA370989515 | RP1 | c.1204G>C (p.Gly402Arg) c.787+2798G>C (n.787+2798G>C) c.1225G>C (p.Gly409Arg) | |
8 | g.54625086G= | CA1785187737 | RP1 | c.1204G= (p.Gly402=) c.787+2798G= (n.787+2798G=) c.1225G= (p.Gly409=) | |
8 | g.54625086G>T | CA370989516 | RP1 | c.1204G>T (p.Gly402Cys) c.787+2798G>T (n.787+2798G>T) c.1225G>T (p.Gly409Cys) | |
8 | g.54625087G>A | CA4751337 | RP1 | c.1205G>A (p.Gly402Asp) c.787+2799G>A (n.787+2799G>A) c.1226G>A (p.Gly409Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625087G>C | CA370989518 | RP1 | c.1205G>C (p.Gly402Ala) c.787+2799G>C (n.787+2799G>C) c.1226G>C (p.Gly409Ala) | |
8 | g.54625087G= | CA1785187738 | RP1 | c.1205G= (p.Gly402=) c.787+2799G= (n.787+2799G=) c.1226G= (p.Gly409=) | |
8 | g.54625087G>T | CA370989519 | RP1 | c.1205G>T (p.Gly402Val) c.787+2799G>T (n.787+2799G>T) c.1226G>T (p.Gly409Val) | |
8 | g.54625088C>A | CA461098273 | RP1 | c.1206C>A (p.Gly402=) c.787+2800C>A (n.787+2800C>A) c.1227C>A (p.Gly409=) | |
8 | g.54625088C>G | CA461098274 | RP1 | c.1206C>G (p.Gly402=) c.787+2800C>G (n.787+2800C>G) c.1227C>G (p.Gly409=) | |
8 | g.54625088C>T | CA461098275 | RP1 | c.1206C>T (p.Gly402=) c.787+2800C>T (n.787+2800C>T) c.1227C>T (p.Gly409=) | |
8 | g.54625089A>C | CA370989521 | RP1 | c.1207A>C (p.Ser403Arg) c.787+2801A>C (n.787+2801A>C) c.1228A>C (p.Ser410Arg) | |
8 | g.54625089A>G | CA370989522 | RP1 | c.1207A>G (p.Ser403Gly) c.787+2801A>G (n.787+2801A>G) c.1228A>G (p.Ser410Gly) | gnomAD v4 |
8 | g.54625089A>T | CA370989524 | RP1 | c.1207A>T (p.Ser403Cys) c.787+2801A>T (n.787+2801A>T) c.1228A>T (p.Ser410Cys) | |
8 | g.54625090G>A | CA370989527 | RP1 | c.1208G>A (p.Ser403Asn) c.787+2802G>A (n.787+2802G>A) c.1229G>A (p.Ser410Asn) | gnomAD v4 |
8 | g.54625090G>C | CA370989525 | RP1 | c.1208G>C (p.Ser403Thr) c.787+2802G>C (n.787+2802G>C) c.1229G>C (p.Ser410Thr) | |
8 | g.54625090G= | CA1785187739 | RP1 | c.1208G= (p.Ser403=) c.787+2802G= (n.787+2802G=) c.1229G= (p.Ser410=) | |
8 | g.54625090G>T | CA370989526 | RP1 | c.1208G>T (p.Ser403Ile) c.787+2802G>T (n.787+2802G>T) c.1229G>T (p.Ser410Ile) | dbSNP COSMIC |
8 | g.54625090_54625091insCCC | CA2780386990 | RP1 | c.1208_1209insCCC (p.Ser403_Leu404insPro) c.787+2802_787+2803insCCC (n.787+2802_787+2803insCCC) c.1229_1230insCCC (p.Ser410_Leu411insPro) | |
8 | g.54625091T>A | CA370989529 | RP1 | c.1209T>A (p.Ser403Arg) c.787+2803T>A (n.787+2803T>A) c.1230T>A (p.Ser410Arg) | |
8 | g.54625091T>C | CA461098276 | RP1 | c.1209T>C (p.Ser403=) c.787+2803T>C (n.787+2803T>C) c.1230T>C (p.Ser410=) | |
8 | g.54625091T>G | CA370989530 | RP1 | c.1209T>G (p.Ser403Arg) c.787+2803T>G (n.787+2803T>G) c.1230T>G (p.Ser410Arg) | |
8 | g.54625092T>A | CA370989531 | RP1 | c.1210T>A (p.Leu404Met) c.787+2804T>A (n.787+2804T>A) c.1231T>A (p.Leu411Met) | |
8 | g.54625092T>C | CA461098281 | RP1 | c.1210T>C (p.Leu404=) c.787+2804T>C (n.787+2804T>C) c.1231T>C (p.Leu411=) | |
8 | g.54625092T>G | CA370989533 | RP1 | c.1210T>G (p.Leu404Val) c.787+2804T>G (n.787+2804T>G) c.1231T>G (p.Leu411Val) | |
8 | g.54625093T>A | CA370989535 | RP1 | c.1211T>A (p.Leu404Ter) c.787+2805T>A (n.787+2805T>A) c.1232T>A (p.Leu411Ter) | |
8 | g.54625093T>C | CA370989536 | RP1 | c.1211T>C (p.Leu404Ser) c.787+2805T>C (n.787+2805T>C) c.1232T>C (p.Leu411Ser) | COSMIC |
8 | g.54625093T>G | CA370989538 | RP1 | c.1211T>G (p.Leu404Trp) c.787+2805T>G (n.787+2805T>G) c.1232T>G (p.Leu411Trp) | gnomAD v4 |
8 | g.54625094G>A | CA461098282 | RP1 | c.1212G>A (p.Leu404=) c.787+2806G>A (n.787+2806G>A) c.1233G>A (p.Leu411=) | |
8 | g.54625094G>C | CA370989540 | RP1 | c.1212G>C (p.Leu404Phe) c.787+2806G>C (n.787+2806G>C) c.1233G>C (p.Leu411Phe) | |
8 | g.54625094G>T | CA370989541 | RP1 | c.1212G>T (p.Leu404Phe) c.787+2806G>T (n.787+2806G>T) c.1233G>T (p.Leu411Phe) | |
8 | g.54625095G>A | CA370989543 | RP1 | c.1213G>A (p.Ala405Thr) c.787+2807G>A (n.787+2807G>A) c.1234G>A (p.Ala412Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54625095G>C | CA370989544 | RP1 | c.1213G>C (p.Ala405Pro) c.787+2807G>C (n.787+2807G>C) c.1234G>C (p.Ala412Pro) | |
8 | g.54625095G= | CA1785187740 | RP1 | c.1213G= (p.Ala405=) c.787+2807G= (n.787+2807G=) c.1234G= (p.Ala412=) | |
8 | g.54625095G>T | CA370989545 | RP1 | c.1213G>T (p.Ala405Ser) c.787+2807G>T (n.787+2807G>T) c.1234G>T (p.Ala412Ser) | ClinVar dbSNP |
8 | g.54625096C>A | CA370989548 | RP1 | c.1214C>A (p.Ala405Glu) c.787+2808C>A (n.787+2808C>A) c.1235C>A (p.Ala412Glu) | |
8 | g.54625096C>G | CA370989555 | RP1 | c.1214C>G (p.Ala405Gly) c.787+2808C>G (n.787+2808C>G) c.1235C>G (p.Ala412Gly) | |
8 | g.54625096C>T | CA370989547 | RP1 | c.1214C>T (p.Ala405Val) c.787+2808C>T (n.787+2808C>T) c.1235C>T (p.Ala412Val) | |
8 | g.54625097A>C | CA461098291 | RP1 | c.1215A>C (p.Ala405=) c.787+2809A>C (n.787+2809A>C) c.1236A>C (p.Ala412=) | |
8 | g.54625097A>G | CA461098290 | RP1 | c.1215A>G (p.Ala405=) c.787+2809A>G (n.787+2809A>G) c.1236A>G (p.Ala412=) | |
8 | g.54625097A>T | CA461098292 | RP1 | c.1215A>T (p.Ala405=) c.787+2809A>T (n.787+2809A>T) c.1236A>T (p.Ala412=) | |
8 | g.54625098G>A | CA370989557 | RP1 | c.1216G>A (p.Glu406Lys) c.787+2810G>A (n.787+2810G>A) c.1237G>A (p.Glu413Lys) | |
8 | g.54625098G>C | CA370989558 | RP1 | c.1216G>C (p.Glu406Gln) c.787+2810G>C (n.787+2810G>C) c.1237G>C (p.Glu413Gln) | |
8 | g.54625098G>T | CA370989560 | RP1 | c.1216G>T (p.Glu406Ter) c.787+2810G>T (n.787+2810G>T) c.1237G>T (p.Glu413Ter) | |
8 | g.54625101_54625103del | CA2579168453 | RP1 | c.1219_1221del (p.Glu407del) c.787+2813_787+2815del (n.787+2813_787+2815del) c.1240_1242del (p.Glu414del) | |
8 | g.54625099A>C | CA370989562 | RP1 | c.1217A>C (p.Glu406Ala) c.787+2811A>C (n.787+2811A>C) c.1238A>C (p.Glu413Ala) | |
8 | g.54625099A>G | CA370989563 | RP1 | c.1217A>G (p.Glu406Gly) c.787+2811A>G (n.787+2811A>G) c.1238A>G (p.Glu413Gly) | |
8 | g.54625099A>T | CA370989565 | RP1 | c.1217A>T (p.Glu406Val) c.787+2811A>T (n.787+2811A>T) c.1238A>T (p.Glu413Val) | |
8 | g.54625100G>A | CA461098296 | RP1 | c.1218G>A (p.Glu406=) c.787+2812G>A (n.787+2812G>A) c.1239G>A (p.Glu413=) | gnomAD v4 |
8 | g.54625100G>C | CA370989566 | RP1 | c.1218G>C (p.Glu406Asp) c.787+2812G>C (n.787+2812G>C) c.1239G>C (p.Glu413Asp) | |
8 | g.54625100G>T | CA370989567 | RP1 | c.1218G>T (p.Glu406Asp) c.787+2812G>T (n.787+2812G>T) c.1239G>T (p.Glu413Asp) |