UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54624902A>C | CA370989107 | RP1 | c.1020A>C (p.Arg340Ser) c.787+2614A>C (n.787+2614A>C) c.1041A>C (p.Arg347Ser) | |
| 8 | g.54624902A>G | CA461098208 | RP1 | c.1020A>G (p.Arg340=) c.787+2614A>G (n.787+2614A>G) c.1041A>G (p.Arg347=) | |
| 8 | g.54624902A>T | CA370989108 | RP1 | c.1020A>T (p.Arg340Ser) c.787+2614A>T (n.787+2614A>T) c.1041A>T (p.Arg347Ser) | |
| 8 | g.54624903A>C | CA370989109 | RP1 | c.1021A>C (p.Ile341Leu) c.787+2615A>C (n.787+2615A>C) c.1042A>C (p.Ile348Leu) | |
| 8 | g.54624903A>G | CA370989111 | RP1 | c.1021A>G (p.Ile341Val) c.787+2615A>G (n.787+2615A>G) c.1042A>G (p.Ile348Val) | |
| 8 | g.54624903A>T | CA370989110 | RP1 | c.1021A>T (p.Ile341Leu) c.787+2615A>T (n.787+2615A>T) c.1042A>T (p.Ile348Leu) | |
| 8 | g.54624904T>A | CA370989112 | RP1 | c.1022T>A (p.Ile341Lys) c.787+2616T>A (n.787+2616T>A) c.1043T>A (p.Ile348Lys) | |
| 8 | g.54624904T>C | CA370989113 | RP1 | c.1022T>C (p.Ile341Thr) c.787+2616T>C (n.787+2616T>C) c.1043T>C (p.Ile348Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54624904T>G | CA370989114 | RP1 | c.1022T>G (p.Ile341Arg) c.787+2616T>G (n.787+2616T>G) c.1043T>G (p.Ile348Arg) | |
| 8 | g.54624904T= | CA1785187663 | RP1 | c.1022T= (p.Ile341=) c.787+2616T= (n.787+2616T=) c.1043T= (p.Ile348=) | |
| 8 | g.54624905A>C | CA461098214 | RP1 | c.1023A>C (p.Ile341=) c.787+2617A>C (n.787+2617A>C) c.1044A>C (p.Ile348=) | |
| 8 | g.54624905A>G | CA370989115 | RP1 | c.1023A>G (p.Ile341Met) c.787+2617A>G (n.787+2617A>G) c.1044A>G (p.Ile348Met) | |
| 8 | g.54624905A>T | CA461098215 | RP1 | c.1023A>T (p.Ile341=) c.787+2617A>T (n.787+2617A>T) c.1044A>T (p.Ile348=) | COSMIC |
| 8 | g.54624906A>C | CA370989116 | RP1 | c.1024A>C (p.Lys342Gln) c.787+2618A>C (n.787+2618A>C) c.1045A>C (p.Lys349Gln) | |
| 8 | g.54624906A>G | CA370989118 | RP1 | c.1024A>G (p.Lys342Glu) c.787+2618A>G (n.787+2618A>G) c.1045A>G (p.Lys349Glu) | |
| 8 | g.54624906A>T | CA370989117 | RP1 | c.1024A>T (p.Lys342Ter) c.787+2618A>T (n.787+2618A>T) c.1045A>T (p.Lys349Ter) | |
| 8 | g.54624907A>C | CA370989119 | RP1 | c.1025A>C (p.Lys342Thr) c.787+2619A>C (n.787+2619A>C) c.1046A>C (p.Lys349Thr) | |
| 8 | g.54624907A>G | CA370989120 | RP1 | c.1025A>G (p.Lys342Arg) c.787+2619A>G (n.787+2619A>G) c.1046A>G (p.Lys349Arg) | |
| 8 | g.54624907A>T | CA370989121 | RP1 | c.1025A>T (p.Lys342Ile) c.787+2619A>T (n.787+2619A>T) c.1046A>T (p.Lys349Ile) | |
| 8 | g.54624908A>C | CA370989122 | RP1 | c.1026A>C (p.Lys342Asn) c.787+2620A>C (n.787+2620A>C) c.1047A>C (p.Lys349Asn) | |
| 8 | g.54624908A>G | CA461098219 | RP1 | c.1026A>G (p.Lys342=) c.787+2620A>G (n.787+2620A>G) c.1047A>G (p.Lys349=) | |
| 8 | g.54624908A>T | CA370989123 | RP1 | c.1026A>T (p.Lys342Asn) c.787+2620A>T (n.787+2620A>T) c.1047A>T (p.Lys349Asn) | |
| 8 | g.54624909G>A | CA370989124 | RP1 | c.1027G>A (p.Glu343Lys) c.787+2621G>A (n.787+2621G>A) c.1048G>A (p.Glu350Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54624909G>C | CA370989125 | RP1 | c.1027G>C (p.Glu343Gln) c.787+2621G>C (n.787+2621G>C) c.1048G>C (p.Glu350Gln) | |
| 8 | g.54624909G= | CA1785187664 | RP1 | c.1027G= (p.Glu343=) c.787+2621G= (n.787+2621G=) c.1048G= (p.Glu350=) | |
| 8 | g.54624909G>T | CA370989126 | RP1 | c.1027G>T (p.Glu343Ter) c.787+2621G>T (n.787+2621G>T) c.1048G>T (p.Glu350Ter) | |
| 8 | g.54624910A>C | CA370989127 | RP1 | c.1028A>C (p.Glu343Ala) c.787+2622A>C (n.787+2622A>C) c.1049A>C (p.Glu350Ala) | |
| 8 | g.54624910A>G | CA370989128 | RP1 | c.1028A>G (p.Glu343Gly) c.787+2622A>G (n.787+2622A>G) c.1049A>G (p.Glu350Gly) | |
| 8 | g.54624910A>T | CA370989129 | RP1 | c.1028A>T (p.Glu343Val) c.787+2622A>T (n.787+2622A>T) c.1049A>T (p.Glu350Val) | |
| 8 | g.54624911G>A | CA4751308 | RP1 | c.1029G>A (p.Glu343=) c.787+2623G>A (n.787+2623G>A) c.1050G>A (p.Glu350=) | dbSNP ExAC gnomAD v2 |
| 8 | g.54624911G>C | CA370989131 | RP1 | c.1029G>C (p.Glu343Asp) c.787+2623G>C (n.787+2623G>C) c.1050G>C (p.Glu350Asp) | |
| 8 | g.54624911G= | CA1785187665 | RP1 | c.1029G= (p.Glu343=) c.787+2623G= (n.787+2623G=) c.1050G= (p.Glu350=) | |
| 8 | g.54624911G>T | CA370989130 | RP1 | c.1029G>T (p.Glu343Asp) c.787+2623G>T (n.787+2623G>T) c.1050G>T (p.Glu350Asp) | |
| 8 | g.54624912G>A | CA370989132 | RP1 | c.1030G>A (p.Glu344Lys) c.787+2624G>A (n.787+2624G>A) c.1051G>A (p.Glu351Lys) | COSMIC |
| 8 | g.54624912G>C | CA370989134 | RP1 | c.1030G>C (p.Glu344Gln) c.787+2624G>C (n.787+2624G>C) c.1051G>C (p.Glu351Gln) | |
| 8 | g.54624912G>T | CA370989133 | RP1 | c.1030G>T (p.Glu344Ter) c.787+2624G>T (n.787+2624G>T) c.1051G>T (p.Glu351Ter) | |
| 8 | g.54624913A= | CA1785187666 | RP1 | c.1031A= (p.Glu344=) c.787+2625A= (n.787+2625A=) c.1052A= (p.Glu351=) | |
| 8 | g.54624913A>C | CA370989135 | RP1 | c.1031A>C (p.Glu344Ala) c.787+2625A>C (n.787+2625A>C) c.1052A>C (p.Glu351Ala) | |
| 8 | g.54624913A>G | CA370989137 | RP1 | c.1031A>G (p.Glu344Gly) c.787+2625A>G (n.787+2625A>G) c.1052A>G (p.Glu351Gly) | |
| 8 | g.54624913A>T | CA370989136 | RP1 | c.1031A>T (p.Glu344Val) c.787+2625A>T (n.787+2625A>T) c.1052A>T (p.Glu351Val) | dbSNP gnomAD v2 |
| 8 | g.54624914A= | CA1785187667 | RP1 | c.1032A= (p.Glu344=) c.787+2626A= (n.787+2626A=) c.1053A= (p.Glu351=) | |
| 8 | g.54624914A>C | CA370989138 | RP1 | c.1032A>C (p.Glu344Asp) c.787+2626A>C (n.787+2626A>C) c.1053A>C (p.Glu351Asp) | |
| 8 | g.54624914A>G | CA4751309 | RP1 | c.1032A>G (p.Glu344=) c.787+2626A>G (n.787+2626A>G) c.1053A>G (p.Glu351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624914A>T | CA370989139 | RP1 | c.1032A>T (p.Glu344Asp) c.787+2626A>T (n.787+2626A>T) c.1053A>T (p.Glu351Asp) | |
| 8 | g.54624915del | CA2687300914 | RP1 | c.1033del (p.Glu345LysfsTer3) c.787+2627del (n.787+2627del) c.1054del (p.Glu352LysfsTer3) | gnomAD v4 |
| 8 | g.54624915G>A | CA4751310 | RP1 | c.1033G>A (p.Glu345Lys) c.787+2627G>A (n.787+2627G>A) c.1054G>A (p.Glu352Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624915G>C | CA370989140 | RP1 | c.1033G>C (p.Glu345Gln) c.787+2627G>C (n.787+2627G>C) c.1054G>C (p.Glu352Gln) | |
| 8 | g.54624915G= | CA1785187668 | RP1 | c.1033G= (p.Glu345=) c.787+2627G= (n.787+2627G=) c.1054G= (p.Glu352=) | |
| 8 | g.54624915G>T | CA370989141 | RP1 | c.1033G>T (p.Glu345Ter) c.787+2627G>T (n.787+2627G>T) c.1054G>T (p.Glu352Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54624916A>C | CA370989142 | RP1 | c.1034A>C (p.Glu345Ala) c.787+2628A>C (n.787+2628A>C) c.1055A>C (p.Glu352Ala) | |
| 8 | g.54624916A>G | CA370989143 | RP1 | c.1034A>G (p.Glu345Gly) c.787+2628A>G (n.787+2628A>G) c.1055A>G (p.Glu352Gly) | gnomAD v4 |
| 8 | g.54624916A>T | CA370989144 | RP1 | c.1034A>T (p.Glu345Val) c.787+2628A>T (n.787+2628A>T) c.1055A>T (p.Glu352Val) | |
| 8 | g.54624917A>C | CA370989145 | RP1 | c.1035A>C (p.Glu345Asp) c.787+2629A>C (n.787+2629A>C) c.1056A>C (p.Glu352Asp) | |
| 8 | g.54624917A>G | CA461098233 | RP1 | c.1035A>G (p.Glu345=) c.787+2629A>G (n.787+2629A>G) c.1056A>G (p.Glu352=) | |
| 8 | g.54624917A>T | CA370989146 | RP1 | c.1035A>T (p.Glu345Asp) c.787+2629A>T (n.787+2629A>T) c.1056A>T (p.Glu352Asp) | |
| 8 | g.54624918A>C | CA370989149 | RP1 | c.1036A>C (p.Thr346Pro) c.787+2630A>C (n.787+2630A>C) c.1057A>C (p.Thr353Pro) | |
| 8 | g.54624918A>G | CA370989147 | RP1 | c.1036A>G (p.Thr346Ala) c.787+2630A>G (n.787+2630A>G) c.1057A>G (p.Thr353Ala) | |
| 8 | g.54624918A>T | CA370989148 | RP1 | c.1036A>T (p.Thr346Ser) c.787+2630A>T (n.787+2630A>T) c.1057A>T (p.Thr353Ser) | |
| 8 | g.54624919C>A | CA370989150 | RP1 | c.1037C>A (p.Thr346Asn) c.787+2631C>A (n.787+2631C>A) c.1058C>A (p.Thr353Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624919C= | CA1785187669 | RP1 | c.1037C= (p.Thr346=) c.787+2631C= (n.787+2631C=) c.1058C= (p.Thr353=) | |
| 8 | g.54624919C>G | CA370989151 | RP1 | c.1037C>G (p.Thr346Ser) c.787+2631C>G (n.787+2631C>G) c.1058C>G (p.Thr353Ser) | |
| 8 | g.54624919C>T | CA370989152 | RP1 | c.1037C>T (p.Thr346Ile) c.787+2631C>T (n.787+2631C>T) c.1058C>T (p.Thr353Ile) | |
| 8 | g.54624920C>A | CA461098240 | RP1 | c.1038C>A (p.Thr346=) c.787+2632C>A (n.787+2632C>A) c.1059C>A (p.Thr353=) | |
| 8 | g.54624920C>G | CA461098241 | RP1 | c.1038C>G (p.Thr346=) c.787+2632C>G (n.787+2632C>G) c.1059C>G (p.Thr353=) | |
| 8 | g.54624920C>T | CA461098242 | RP1 | c.1038C>T (p.Thr346=) c.787+2632C>T (n.787+2632C>T) c.1059C>T (p.Thr353=) | |
| 8 | g.54624921A= | CA1785187670 | RP1 | c.1039A= (p.Ile347=) c.787+2633A= (n.787+2633A=) c.1060A= (p.Ile354=) | |
| 8 | g.54624921A>C | CA370989153 | RP1 | c.1039A>C (p.Ile347Leu) c.787+2633A>C (n.787+2633A>C) c.1060A>C (p.Ile354Leu) | |
| 8 | g.54624921A>G | CA370989154 | RP1 | c.1039A>G (p.Ile347Val) c.787+2633A>G (n.787+2633A>G) c.1060A>G (p.Ile354Val) | dbSNP gnomAD v4 |
| 8 | g.54624921A>T | CA370989155 | RP1 | c.1039A>T (p.Ile347Leu) c.787+2633A>T (n.787+2633A>T) c.1060A>T (p.Ile354Leu) | |
| 8 | g.54624922T>A | CA177236603 | RP1 | c.1040T>A (p.Ile347Lys) c.787+2634T>A (n.787+2634T>A) c.1061T>A (p.Ile354Lys) | dbSNP |
| 8 | g.54624922T>C | CA370989156 | RP1 | c.1040T>C (p.Ile347Thr) c.787+2634T>C (n.787+2634T>C) c.1061T>C (p.Ile354Thr) | |
| 8 | g.54624922T>G | CA370989157 | RP1 | c.1040T>G (p.Ile347Arg) c.787+2634T>G (n.787+2634T>G) c.1061T>G (p.Ile354Arg) | |
| 8 | g.54624922T= | CA1785187671 | RP1 | c.1040T= (p.Ile347=) c.787+2634T= (n.787+2634T=) c.1061T= (p.Ile354=) | |
| 8 | g.54624923A>C | CA461098245 | RP1 | c.1041A>C (p.Ile347=) c.787+2635A>C (n.787+2635A>C) c.1062A>C (p.Ile354=) | |
| 8 | g.54624923A>G | CA370989158 | RP1 | c.1041A>G (p.Ile347Met) c.787+2635A>G (n.787+2635A>G) c.1062A>G (p.Ile354Met) | gnomAD v4 |
| 8 | g.54624923A>T | CA461098246 | RP1 | c.1041A>T (p.Ile347=) c.787+2635A>T (n.787+2635A>T) c.1062A>T (p.Ile354=) | |
| 8 | g.54624924A>C | CA370989161 | RP1 | c.1042A>C (p.Lys348Gln) c.787+2636A>C (n.787+2636A>C) c.1063A>C (p.Lys355Gln) | |
| 8 | g.54624924A>G | CA370989160 | RP1 | c.1042A>G (p.Lys348Glu) c.787+2636A>G (n.787+2636A>G) c.1063A>G (p.Lys355Glu) | |
| 8 | g.54624924A>T | CA370989159 | RP1 | c.1042A>T (p.Lys348Ter) c.787+2636A>T (n.787+2636A>T) c.1063A>T (p.Lys355Ter) | |
| 8 | g.54624925A>C | CA370989162 | RP1 | c.1043A>C (p.Lys348Thr) c.787+2637A>C (n.787+2637A>C) c.1064A>C (p.Lys355Thr) | |
| 8 | g.54624925A>G | CA370989163 | RP1 | c.1043A>G (p.Lys348Arg) c.787+2637A>G (n.787+2637A>G) c.1064A>G (p.Lys355Arg) | |
| 8 | g.54624925A>T | CA370989164 | RP1 | c.1043A>T (p.Lys348Ile) c.787+2637A>T (n.787+2637A>T) c.1064A>T (p.Lys355Ile) | |
| 8 | g.54624926A>C | CA370989165 | RP1 | c.1044A>C (p.Lys348Asn) c.787+2638A>C (n.787+2638A>C) c.1065A>C (p.Lys355Asn) | |
| 8 | g.54624926A>G | CA461098253 | RP1 | c.1044A>G (p.Lys348=) c.787+2638A>G (n.787+2638A>G) c.1065A>G (p.Lys355=) | |
| 8 | g.54624926A>T | CA370989166 | RP1 | c.1044A>T (p.Lys348Asn) c.787+2638A>T (n.787+2638A>T) c.1065A>T (p.Lys355Asn) | |
| 8 | g.54624927T>A | CA370989167 | RP1 | c.1045T>A (p.Trp349Arg) c.787+2639T>A (n.787+2639T>A) c.1066T>A (p.Trp356Arg) | |
| 8 | g.54624927T>C | CA370989168 | RP1 | c.1045T>C (p.Trp349Arg) c.787+2639T>C (n.787+2639T>C) c.1066T>C (p.Trp356Arg) | |
| 8 | g.54624927T>G | CA370989169 | RP1 | c.1045T>G (p.Trp349Gly) c.787+2639T>G (n.787+2639T>G) c.1066T>G (p.Trp356Gly) | |
| 8 | g.54624928G>A | CA370989170 | RP1 | c.1046G>A (p.Trp349Ter) c.787+2640G>A (n.787+2640G>A) c.1067G>A (p.Trp356Ter) | |
| 8 | g.54624928G>C | CA370989171 | RP1 | c.1046G>C (p.Trp349Ser) c.787+2640G>C (n.787+2640G>C) c.1067G>C (p.Trp356Ser) | |
| 8 | g.54624928G>T | CA370989172 | RP1 | c.1046G>T (p.Trp349Leu) c.787+2640G>T (n.787+2640G>T) c.1067G>T (p.Trp356Leu) | |
| 8 | g.54624929G>A | CA370989175 | RP1 | c.1047G>A (p.Trp349Ter) c.787+2641G>A (n.787+2641G>A) c.1068G>A (p.Trp356Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54624929G>C | CA370989174 | RP1 | c.1047G>C (p.Trp349Cys) c.787+2641G>C (n.787+2641G>C) c.1068G>C (p.Trp356Cys) | |
| 8 | g.54624929G= | CA1785187672 | RP1 | c.1047G= (p.Trp349=) c.787+2641G= (n.787+2641G=) c.1068G= (p.Trp356=) | |
| 8 | g.54624929G>T | CA370989173 | RP1 | c.1047G>T (p.Trp349Cys) c.787+2641G>T (n.787+2641G>T) c.1068G>T (p.Trp356Cys) | |
| 8 | g.54624930A>C | CA370989176 | RP1 | c.1048A>C (p.Thr350Pro) c.787+2642A>C (n.787+2642A>C) c.1069A>C (p.Thr357Pro) | |
| 8 | g.54624930A>G | CA370989177 | RP1 | c.1048A>G (p.Thr350Ala) c.787+2642A>G (n.787+2642A>G) c.1069A>G (p.Thr357Ala) | |
| 8 | g.54624930A>T | CA370989178 | RP1 | c.1048A>T (p.Thr350Ser) c.787+2642A>T (n.787+2642A>T) c.1069A>T (p.Thr357Ser) | |
| 8 | g.54624931C>A | CA370989179 | RP1 | c.1049C>A (p.Thr350Lys) c.787+2643C>A (n.787+2643C>A) c.1070C>A (p.Thr357Lys) | gnomAD v4 |
| 8 | g.54624931C>G | CA370989180 | RP1 | c.1049C>G (p.Thr350Arg) c.787+2643C>G (n.787+2643C>G) c.1070C>G (p.Thr357Arg) | |
| 8 | g.54624931C>T | CA370989181 | RP1 | c.1049C>T (p.Thr350Ile) c.787+2643C>T (n.787+2643C>T) c.1070C>T (p.Thr357Ile) | |
| 8 | g.54624932A= | CA1785187673 | RP1 | c.1050A= (p.Thr350=) c.787+2644A= (n.787+2644A=) c.1071A= (p.Thr357=) | |
| 8 | g.54624932A>C | CA461098259 | RP1 | c.1050A>C (p.Thr350=) c.787+2644A>C (n.787+2644A>C) c.1071A>C (p.Thr357=) | dbSNP |
| 8 | g.54624932A>G | CA461098264 | RP1 | c.1050A>G (p.Thr350=) c.787+2644A>G (n.787+2644A>G) c.1071A>G (p.Thr357=) | gnomAD v4 |
| 8 | g.54624932A>T | CA461098261 | RP1 | c.1050A>T (p.Thr350=) c.787+2644A>T (n.787+2644A>T) c.1071A>T (p.Thr357=) | COSMIC |
| 8 | g.54624933A>C | CA370989182 | RP1 | c.1051A>C (p.Thr351Pro) c.787+2645A>C (n.787+2645A>C) c.1072A>C (p.Thr358Pro) | |
| 8 | g.54624933A>G | CA370989183 | RP1 | c.1051A>G (p.Thr351Ala) c.787+2645A>G (n.787+2645A>G) c.1072A>G (p.Thr358Ala) | |
| 8 | g.54624933A>T | CA370989184 | RP1 | c.1051A>T (p.Thr351Ser) c.787+2645A>T (n.787+2645A>T) c.1072A>T (p.Thr358Ser) | gnomAD v4 |
| 8 | g.54624934C>A | CA370989185 | RP1 | c.1052C>A (p.Thr351Asn) c.787+2646C>A (n.787+2646C>A) c.1073C>A (p.Thr358Asn) | |
| 8 | g.54624934C>G | CA370989186 | RP1 | c.1052C>G (p.Thr351Ser) c.787+2646C>G (n.787+2646C>G) c.1073C>G (p.Thr358Ser) | |
| 8 | g.54624934C>T | CA370989187 | RP1 | c.1052C>T (p.Thr351Ile) c.787+2646C>T (n.787+2646C>T) c.1073C>T (p.Thr358Ile) | |
| 8 | g.54624935T>A | CA461098267 | RP1 | c.1053T>A (p.Thr351=) c.787+2647T>A (n.787+2647T>A) c.1074T>A (p.Thr358=) | |
| 8 | g.54624935T>C | CA461098269 | RP1 | c.1053T>C (p.Thr351=) c.787+2647T>C (n.787+2647T>C) c.1074T>C (p.Thr358=) | gnomAD v3 gnomAD v4 |
| 8 | g.54624935T>G | CA461098271 | RP1 | c.1053T>G (p.Thr351=) c.787+2647T>G (n.787+2647T>G) c.1074T>G (p.Thr358=) | |
| 8 | g.54624936A= | CA1785187674 | RP1 | c.1054A= (p.Thr352=) c.787+2648A= (n.787+2648A=) c.1075A= (p.Thr359=) | |
| 8 | g.54624936A>C | CA370989189 | RP1 | c.1054A>C (p.Thr352Pro) c.787+2648A>C (n.787+2648A>C) c.1075A>C (p.Thr359Pro) | |
| 8 | g.54624936A>G | CA370989190 | RP1 | c.1054A>G (p.Thr352Ala) c.787+2648A>G (n.787+2648A>G) c.1075A>G (p.Thr359Ala) | dbSNP gnomAD v4 |
| 8 | g.54624936A>T | CA370989188 | RP1 | c.1054A>T (p.Thr352Ser) c.787+2648A>T (n.787+2648A>T) c.1075A>T (p.Thr359Ser) | |
| 8 | g.54624937C>A | CA370989192 | RP1 | c.1055C>A (p.Thr352Asn) c.787+2649C>A (n.787+2649C>A) c.1076C>A (p.Thr359Asn) | |
| 8 | g.54624937C= | CA1785187675 | RP1 | c.1055C= (p.Thr352=) c.787+2649C= (n.787+2649C=) c.1076C= (p.Thr359=) | |
| 8 | g.54624937C>G | CA370989191 | RP1 | c.1055C>G (p.Thr352Ser) c.787+2649C>G (n.787+2649C>G) c.1076C>G (p.Thr359Ser) | |
| 8 | g.54624937C>T | CA4751311 | RP1 | c.1055C>T (p.Thr352Ile) c.787+2649C>T (n.787+2649C>T) c.1076C>T (p.Thr359Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624938T>A | CA461098278 | RP1 | c.1056T>A (p.Thr352=) c.787+2650T>A (n.787+2650T>A) c.1077T>A (p.Thr359=) | |
| 8 | g.54624938T>C | CA461098279 | RP1 | c.1056T>C (p.Thr352=) c.787+2650T>C (n.787+2650T>C) c.1077T>C (p.Thr359=) | dbSNP gnomAD v4 COSMIC |
| 8 | g.54624938T>G | CA461098280 | RP1 | c.1056T>G (p.Thr352=) c.787+2650T>G (n.787+2650T>G) c.1077T>G (p.Thr359=) | |
| 8 | g.54624938T= | CA1785187676 | RP1 | c.1056T= (p.Thr352=) c.787+2650T= (n.787+2650T=) c.1077T= (p.Thr359=) | |
| 8 | g.54624939G>A | CA370989193 | RP1 | c.1057G>A (p.Val353Ile) c.787+2651G>A (n.787+2651G>A) c.1078G>A (p.Val360Ile) | gnomAD v4 COSMIC |
| 8 | g.54624939G>C | CA370989194 | RP1 | c.1057G>C (p.Val353Leu) c.787+2651G>C (n.787+2651G>C) c.1078G>C (p.Val360Leu) | |
| 8 | g.54624939G>T | CA370989195 | RP1 | c.1057G>T (p.Val353Phe) c.787+2651G>T (n.787+2651G>T) c.1078G>T (p.Val360Phe) | gnomAD v4 |
| 8 | g.54624940T>A | CA370989196 | RP1 | c.1058T>A (p.Val353Asp) c.787+2652T>A (n.787+2652T>A) c.1079T>A (p.Val360Asp) | |
| 8 | g.54624940T>C | CA370989197 | RP1 | c.1058T>C (p.Val353Ala) c.787+2652T>C (n.787+2652T>C) c.1079T>C (p.Val360Ala) | |
| 8 | g.54624940T>G | CA370989198 | RP1 | c.1058T>G (p.Val353Gly) c.787+2652T>G (n.787+2652T>G) c.1079T>G (p.Val360Gly) | |
| 8 | g.54624941C>A | CA461098285 | RP1 | c.1059C>A (p.Val353=) c.787+2653C>A (n.787+2653C>A) c.1080C>A (p.Val360=) | |
| 8 | g.54624941C>G | CA461098283 | RP1 | c.1059C>G (p.Val353=) c.787+2653C>G (n.787+2653C>G) c.1080C>G (p.Val360=) | |
| 8 | g.54624941C>T | CA461098284 | RP1 | c.1059C>T (p.Val353=) c.787+2653C>T (n.787+2653C>T) c.1080C>T (p.Val360=) | |
| 8 | g.54624942A>C | CA370989199 | RP1 | c.1060A>C (p.Ser354Arg) c.787+2654A>C (n.787+2654A>C) c.1081A>C (p.Ser361Arg) | |
| 8 | g.54624942A>G | CA370989200 | RP1 | c.1060A>G (p.Ser354Gly) c.787+2654A>G (n.787+2654A>G) c.1081A>G (p.Ser361Gly) | gnomAD v4 |
| 8 | g.54624942A>T | CA370989201 | RP1 | c.1060A>T (p.Ser354Cys) c.787+2654A>T (n.787+2654A>T) c.1081A>T (p.Ser361Cys) | |
| 8 | g.54624943G>A | CA370989204 | RP1 | c.1061G>A (p.Ser354Asn) c.787+2655G>A (n.787+2655G>A) c.1082G>A (p.Ser361Asn) | gnomAD v4 |
| 8 | g.54624943G>C | CA370989203 | RP1 | c.1061G>C (p.Ser354Thr) c.787+2655G>C (n.787+2655G>C) c.1082G>C (p.Ser361Thr) | |
| 8 | g.54624943G>T | CA370989202 | RP1 | c.1061G>T (p.Ser354Ile) c.787+2655G>T (n.787+2655G>T) c.1082G>T (p.Ser361Ile) | |
| 8 | g.54624944T>A | CA370989205 | RP1 | c.1062T>A (p.Ser354Arg) c.787+2656T>A (n.787+2656T>A) c.1083T>A (p.Ser361Arg) | |
| 8 | g.54624944T>C | CA461098289 | RP1 | c.1062T>C (p.Ser354=) c.787+2656T>C (n.787+2656T>C) c.1083T>C (p.Ser361=) | |
| 8 | g.54624944T>G | CA370989206 | RP1 | c.1062T>G (p.Ser354Arg) c.787+2656T>G (n.787+2656T>G) c.1083T>G (p.Ser361Arg) | |
| 8 | g.54624945A= | CA1785187677 | RP1 | c.1063A= (p.Lys355=) c.787+2657A= (n.787+2657A=) c.1084A= (p.Lys362=) | |
| 8 | g.54624945A>C | CA370989207 | RP1 | c.1063A>C (p.Lys355Gln) c.787+2657A>C (n.787+2657A>C) c.1084A>C (p.Lys362Gln) | |
| 8 | g.54624945A>G | CA370989208 | RP1 | c.1063A>G (p.Lys355Glu) c.787+2657A>G (n.787+2657A>G) c.1084A>G (p.Lys362Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54624945A>T | CA370989209 | RP1 | c.1063A>T (p.Lys355Ter) c.787+2657A>T (n.787+2657A>T) c.1084A>T (p.Lys362Ter) | |
| 8 | g.54624948dup | CA2579168451 | RP1 | c.1066dup (p.Thr356AsnfsTer5) c.787+2660dup (n.787+2660dup) c.1087dup (p.Thr363AsnfsTer5) | |
| 8 | g.54624946A>C | CA370989210 | RP1 | c.1064A>C (p.Lys355Thr) c.787+2658A>C (n.787+2658A>C) c.1085A>C (p.Lys362Thr) | |
| 8 | g.54624946A>G | CA370989211 | RP1 | c.1064A>G (p.Lys355Arg) c.787+2658A>G (n.787+2658A>G) c.1085A>G (p.Lys362Arg) | |
| 8 | g.54624946A>T | CA370989212 | RP1 | c.1064A>T (p.Lys355Ile) c.787+2658A>T (n.787+2658A>T) c.1085A>T (p.Lys362Ile) | COSMIC |
| 8 | g.54624947A= | CA1785187678 | RP1 | c.1065A= (p.Lys355=) c.787+2659A= (n.787+2659A=) c.1086A= (p.Lys362=) | |
| 8 | g.54624947A>C | CA4751312 | RP1 | c.1065A>C (p.Lys355Asn) c.787+2659A>C (n.787+2659A>C) c.1086A>C (p.Lys362Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624947A>G | CA461098293 | RP1 | c.1065A>G (p.Lys355=) c.787+2659A>G (n.787+2659A>G) c.1086A>G (p.Lys362=) | |
| 8 | g.54624947A>T | CA370989213 | RP1 | c.1065A>T (p.Lys355Asn) c.787+2659A>T (n.787+2659A>T) c.1086A>T (p.Lys362Asn) | |
| 8 | g.54624948A= | CA1785187679 | RP1 | c.1066A= (p.Thr356=) c.787+2660A= (n.787+2660A=) c.1087A= (p.Thr363=) | |
| 8 | g.54624948A>C | CA370989214 | RP1 | c.1066A>C (p.Thr356Pro) c.787+2660A>C (n.787+2660A>C) c.1087A>C (p.Thr363Pro) | |
| 8 | g.54624948A>G | CA370989215 | RP1 | c.1066A>G (p.Thr356Ala) c.787+2660A>G (n.787+2660A>G) c.1087A>G (p.Thr363Ala) | |
| 8 | g.54624948A>T | CA4751313 | RP1 | c.1066A>T (p.Thr356Ser) c.787+2660A>T (n.787+2660A>T) c.1087A>T (p.Thr363Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624949C>A | CA370989217 | RP1 | c.1067C>A (p.Thr356Asn) c.787+2661C>A (n.787+2661C>A) c.1088C>A (p.Thr363Asn) | |
| 8 | g.54624949C>G | CA370989218 | RP1 | c.1067C>G (p.Thr356Ser) c.787+2661C>G (n.787+2661C>G) c.1088C>G (p.Thr363Ser) | |
| 8 | g.54624949C>T | CA370989216 | RP1 | c.1067C>T (p.Thr356Ile) c.787+2661C>T (n.787+2661C>T) c.1088C>T (p.Thr363Ile) | |
| 8 | g.54624950T>A | CA461098297 | RP1 | c.1068T>A (p.Thr356=) c.787+2662T>A (n.787+2662T>A) c.1089T>A (p.Thr363=) | |
| 8 | g.54624950T>C | CA461098298 | RP1 | c.1068T>C (p.Thr356=) c.787+2662T>C (n.787+2662T>C) c.1089T>C (p.Thr363=) | |
| 8 | g.54624950T>G | CA461098299 | RP1 | c.1068T>G (p.Thr356=) c.787+2662T>G (n.787+2662T>G) c.1089T>G (p.Thr363=) | |
| 8 | g.54624951G>A | CA4751314 | RP1 | c.1069G>A (p.Gly357Ser) c.787+2663G>A (n.787+2663G>A) c.1090G>A (p.Gly364Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54624951G>C | CA370989219 | RP1 | c.1069G>C (p.Gly357Arg) c.787+2663G>C (n.787+2663G>C) c.1090G>C (p.Gly364Arg) | dbSNP gnomAD v4 |
| 8 | g.54624951G= | CA1785187680 | RP1 | c.1069G= (p.Gly357=) c.787+2663G= (n.787+2663G=) c.1090G= (p.Gly364=) | |
| 8 | g.54624951G>T | CA370989220 | RP1 | c.1069G>T (p.Gly357Cys) c.787+2663G>T (n.787+2663G>T) c.1090G>T (p.Gly364Cys) | |
| 8 | g.54624952G>A | CA370989221 | RP1 | c.1070G>A (p.Gly357Asp) c.787+2664G>A (n.787+2664G>A) c.1091G>A (p.Gly364Asp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54624952G>C | CA370989222 | RP1 | c.1070G>C (p.Gly357Ala) c.787+2664G>C (n.787+2664G>C) c.1091G>C (p.Gly364Ala) | |
| 8 | g.54624952G= | CA1785187681 | RP1 | c.1070G= (p.Gly357=) c.787+2664G= (n.787+2664G=) c.1091G= (p.Gly364=) | |
| 8 | g.54624952G>T | CA370989223 | RP1 | c.1070G>T (p.Gly357Val) c.787+2664G>T (n.787+2664G>T) c.1091G>T (p.Gly364Val) | |
| 8 | g.54624953T>A | CA461098302 | RP1 | c.1071T>A (p.Gly357=) c.787+2665T>A (n.787+2665T>A) c.1092T>A (p.Gly364=) | |
| 8 | g.54624953T>C | CA461098303 | RP1 | c.1071T>C (p.Gly357=) c.787+2665T>C (n.787+2665T>C) c.1092T>C (p.Gly364=) | |
| 8 | g.54624953T>G | CA461098304 | RP1 | c.1071T>G (p.Gly357=) c.787+2665T>G (n.787+2665T>G) c.1092T>G (p.Gly364=) | dbSNP |
| 8 | g.54624953T= | CA1785187682 | RP1 | c.1071T= (p.Gly357=) c.787+2665T= (n.787+2665T=) c.1092T= (p.Gly364=) | |
| 8 | g.54624954C>A | CA370989224 | RP1 | c.1072C>A (p.Pro358Thr) c.787+2666C>A (n.787+2666C>A) c.1093C>A (p.Pro365Thr) | |
| 8 | g.54624954C>G | CA370989225 | RP1 | c.1072C>G (p.Pro358Ala) c.787+2666C>G (n.787+2666C>G) c.1093C>G (p.Pro365Ala) | gnomAD v4 |
| 8 | g.54624954C>T | CA370989226 | RP1 | c.1072C>T (p.Pro358Ser) c.787+2666C>T (n.787+2666C>T) c.1093C>T (p.Pro365Ser) | gnomAD v4 |
| 8 | g.54624955C>A | CA370989227 | RP1 | c.1073C>A (p.Pro358His) c.787+2667C>A (n.787+2667C>A) c.1094C>A (p.Pro365His) | |
| 8 | g.54624955C>G | CA370989228 | RP1 | c.1073C>G (p.Pro358Arg) c.787+2667C>G (n.787+2667C>G) c.1094C>G (p.Pro365Arg) | |
| 8 | g.54624955C>T | CA370989229 | RP1 | c.1073C>T (p.Pro358Leu) c.787+2667C>T (n.787+2667C>T) c.1094C>T (p.Pro365Leu) | |
| 8 | g.54624956T>A | CA461097702 | RP1 | c.1074T>A (p.Pro358=) c.787+2668T>A (n.787+2668T>A) c.1095T>A (p.Pro365=) | |
| 8 | g.54624956T>C | CA461097703 | RP1 | c.1074T>C (p.Pro358=) c.787+2668T>C (n.787+2668T>C) c.1095T>C (p.Pro365=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54624956T>G | CA461097704 | RP1 | c.1074T>G (p.Pro358=) c.787+2668T>G (n.787+2668T>G) c.1095T>G (p.Pro365=) | |
| 8 | g.54624956T= | CA1785187683 | RP1 | c.1074T= (p.Pro358=) c.787+2668T= (n.787+2668T=) c.1095T= (p.Pro365=) | |
| 8 | g.54624957T>A | CA370989231 | RP1 | c.1075T>A (p.Ser359Thr) c.787+2669T>A (n.787+2669T>A) c.1096T>A (p.Ser366Thr) | |
| 8 | g.54624957T>C | CA370989232 | RP1 | c.1075T>C (p.Ser359Pro) c.787+2669T>C (n.787+2669T>C) c.1096T>C (p.Ser366Pro) | |
| 8 | g.54624957T>G | CA370989230 | RP1 | c.1075T>G (p.Ser359Ala) c.787+2669T>G (n.787+2669T>G) c.1096T>G (p.Ser366Ala) | |
| 8 | g.54624958C>A | CA370989233 | RP1 | c.1076C>A (p.Ser359Tyr) c.787+2670C>A (n.787+2670C>A) c.1097C>A (p.Ser366Tyr) | |
| 8 | g.54624958C>G | CA370989234 | RP1 | c.1076C>G (p.Ser359Cys) c.787+2670C>G (n.787+2670C>G) c.1097C>G (p.Ser366Cys) | |
| 8 | g.54624958C>T | CA370989235 | RP1 | c.1076C>T (p.Ser359Phe) c.787+2670C>T (n.787+2670C>T) c.1097C>T (p.Ser366Phe) | |
| 8 | g.54624959T>A | CA461097710 | RP1 | c.1077T>A (p.Ser359=) c.787+2671T>A (n.787+2671T>A) c.1098T>A (p.Ser366=) | |
| 8 | g.54624959T>C | CA461097711 | RP1 | c.1077T>C (p.Ser359=) c.787+2671T>C (n.787+2671T>C) c.1098T>C (p.Ser366=) | |
| 8 | g.54624959T>G | CA461097712 | RP1 | c.1077T>G (p.Ser359=) c.787+2671T>G (n.787+2671T>G) c.1098T>G (p.Ser366=) | |
| 8 | g.54624960A= | CA1785187684 | RP1 | c.1078A= (p.Asn360=) c.787+2672A= (n.787+2672A=) c.1099A= (p.Asn367=) | |
| 8 | g.54624960A>C | CA4751315 | RP1 | c.1078A>C (p.Asn360His) c.787+2672A>C (n.787+2672A>C) c.1099A>C (p.Asn367His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624960A>G | CA370989236 | RP1 | c.1078A>G (p.Asn360Asp) c.787+2672A>G (n.787+2672A>G) c.1099A>G (p.Asn367Asp) | |
| 8 | g.54624960A>T | CA370989237 | RP1 | c.1078A>T (p.Asn360Tyr) c.787+2672A>T (n.787+2672A>T) c.1099A>T (p.Asn367Tyr) | |
| 8 | g.54624961A>C | CA370989240 | RP1 | c.1079A>C (p.Asn360Thr) c.787+2673A>C (n.787+2673A>C) c.1100A>C (p.Asn367Thr) | |
| 8 | g.54624961A>G | CA370989238 | RP1 | c.1079A>G (p.Asn360Ser) c.787+2673A>G (n.787+2673A>G) c.1100A>G (p.Asn367Ser) | |
| 8 | g.54624961A>T | CA370989239 | RP1 | c.1079A>T (p.Asn360Ile) c.787+2673A>T (n.787+2673A>T) c.1100A>T (p.Asn367Ile) | |
| 8 | g.54624962T>A | CA370989241 | RP1 | c.1080T>A (p.Asn360Lys) c.787+2674T>A (n.787+2674T>A) c.1101T>A (p.Asn367Lys) | |
| 8 | g.54624962T>C | CA461097721 | RP1 | c.1080T>C (p.Asn360=) c.787+2674T>C (n.787+2674T>C) c.1101T>C (p.Asn367=) | |
| 8 | g.54624962T>G | CA370989242 | RP1 | c.1080T>G (p.Asn360Lys) c.787+2674T>G (n.787+2674T>G) c.1101T>G (p.Asn367Lys) | |
| 8 | g.54624963A= | CA1785187686 | RP1 | c.1081A= (p.Asn361=) c.787+2675A= (n.787+2675A=) c.1102A= (p.Asn368=) | |
| 8 | g.54624963A>C | CA370989243 | RP1 | c.1081A>C (p.Asn361His) c.787+2675A>C (n.787+2675A>C) c.1102A>C (p.Asn368His) | |
| 8 | g.54624963A>G | CA370989244 | RP1 | c.1081A>G (p.Asn361Asp) c.787+2675A>G (n.787+2675A>G) c.1102A>G (p.Asn368Asp) | dbSNP |
| 8 | g.54624963A>T | CA370989245 | RP1 | c.1081A>T (p.Asn361Tyr) c.787+2675A>T (n.787+2675A>T) c.1102A>T (p.Asn368Tyr) | |
| 8 | g.54624963_54624966delinsAATG | CA1785187685 | RP1 | c.1081_1084delinsAATG (p.Asn361=) c.787+2675_787+2678delinsAATG (n.787+2675_787+2678delinsAATG) c.1102_1105delinsAATG (p.Asn368=) | |
| 8 | g.54624964A>C | CA370989247 | RP1 | c.1082A>C (p.Asn361Thr) c.787+2676A>C (n.787+2676A>C) c.1103A>C (p.Asn368Thr) | |
| 8 | g.54624964A>G | CA370989246 | RP1 | c.1082A>G (p.Asn361Ser) c.787+2676A>G (n.787+2676A>G) c.1103A>G (p.Asn368Ser) | |
| 8 | g.54624964A>T | CA370989248 | RP1 | c.1082A>T (p.Asn361Ile) c.787+2676A>T (n.787+2676A>T) c.1103A>T (p.Asn368Ile) | |
| 8 | g.54624968_54624970del | CA4751316 | RP1 | c.1086_1088del (p.Asp362del) c.787+2680_787+2682del (n.787+2680_787+2682del) c.1107_1109del (p.Asp369del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624965T>A | CA370989250 | RP1 | c.1083T>A (p.Asn361Lys) c.787+2677T>A (n.787+2677T>A) c.1104T>A (p.Asn368Lys) | |
| 8 | g.54624965T>C | CA461097727 | RP1 | c.1083T>C (p.Asn361=) c.787+2677T>C (n.787+2677T>C) c.1104T>C (p.Asn368=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624965T>G | CA370989249 | RP1 | c.1083T>G (p.Asn361Lys) c.787+2677T>G (n.787+2677T>G) c.1104T>G (p.Asn368Lys) | |
| 8 | g.54624965T= | CA1785187687 | RP1 | c.1083T= (p.Asn361=) c.787+2677T= (n.787+2677T=) c.1104T= (p.Asn368=) | |
| 8 | g.54624966G>A | CA4751317 | RP1 | c.1084G>A (p.Asp362Asn) c.787+2678G>A (n.787+2678G>A) c.1105G>A (p.Asp369Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624966G>C | CA370989251 | RP1 | c.1084G>C (p.Asp362His) c.787+2678G>C (n.787+2678G>C) c.1105G>C (p.Asp369His) | |
| 8 | g.54624966G= | CA1785187688 | RP1 | c.1084G= (p.Asp362=) c.787+2678G= (n.787+2678G=) c.1105G= (p.Asp369=) | |
| 8 | g.54624966G>T | CA370989252 | RP1 | c.1084G>T (p.Asp362Tyr) c.787+2678G>T (n.787+2678G>T) c.1105G>T (p.Asp369Tyr) | |
| 8 | g.54624967A>C | CA370989253 | RP1 | c.1085A>C (p.Asp362Ala) c.787+2679A>C (n.787+2679A>C) c.1106A>C (p.Asp369Ala) | |
| 8 | g.54624967A>G | CA370989254 | RP1 | c.1085A>G (p.Asp362Gly) c.787+2679A>G (n.787+2679A>G) c.1106A>G (p.Asp369Gly) | |
| 8 | g.54624967A>T | CA370989255 | RP1 | c.1085A>T (p.Asp362Val) c.787+2679A>T (n.787+2679A>T) c.1106A>T (p.Asp369Val) | |
| 8 | g.54624968T>A | CA370989256 | RP1 | c.1086T>A (p.Asp362Glu) c.787+2680T>A (n.787+2680T>A) c.1107T>A (p.Asp369Glu) | |
| 8 | g.54624968T>C | CA177236615 | RP1 | c.1086T>C (p.Asp362=) c.787+2680T>C (n.787+2680T>C) c.1107T>C (p.Asp369=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624968T>G | CA370989257 | RP1 | c.1086T>G (p.Asp362Glu) c.787+2680T>G (n.787+2680T>G) c.1107T>G (p.Asp369Glu) | gnomAD v4 |
| 8 | g.54624968T= | CA1785187689 | RP1 | c.1086T= (p.Asp362=) c.787+2680T= (n.787+2680T=) c.1107T= (p.Asp369=) | |
| 8 | g.54624969G>A | CA370989258 | RP1 | c.1087G>A (p.Glu363Lys) c.787+2681G>A (n.787+2681G>A) c.1108G>A (p.Glu370Lys) | |
| 8 | g.54624969G>C | CA370989259 | RP1 | c.1087G>C (p.Glu363Gln) c.787+2681G>C (n.787+2681G>C) c.1108G>C (p.Glu370Gln) | |
| 8 | g.54624969G>T | CA370989260 | RP1 | c.1087G>T (p.Glu363Ter) c.787+2681G>T (n.787+2681G>T) c.1108G>T (p.Glu370Ter) | |
| 8 | g.54624970A= | CA1785187690 | RP1 | c.1088A= (p.Glu363=) c.787+2682A= (n.787+2682A=) c.1109A= (p.Glu370=) | |
| 8 | g.54624970A>C | CA370989262 | RP1 | c.1088A>C (p.Glu363Ala) c.787+2682A>C (n.787+2682A>C) c.1109A>C (p.Glu370Ala) | |
| 8 | g.54624970A>G | CA4751318 | RP1 | c.1088A>G (p.Glu363Gly) c.787+2682A>G (n.787+2682A>G) c.1109A>G (p.Glu370Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624970A>T | CA370989261 | RP1 | c.1088A>T (p.Glu363Val) c.787+2682A>T (n.787+2682A>T) c.1109A>T (p.Glu370Val) | |
| 8 | g.54624971A>C | CA370989263 | RP1 | c.1089A>C (p.Glu363Asp) c.787+2683A>C (n.787+2683A>C) c.1110A>C (p.Glu370Asp) | |
| 8 | g.54624971A>G | CA461097740 | RP1 | c.1089A>G (p.Glu363=) c.787+2683A>G (n.787+2683A>G) c.1110A>G (p.Glu370=) | |
| 8 | g.54624971A>T | CA370989264 | RP1 | c.1089A>T (p.Glu363Asp) c.787+2683A>T (n.787+2683A>T) c.1110A>T (p.Glu370Asp) | |
| 8 | g.54624972A>C | CA370989265 | RP1 | c.1090A>C (p.Lys364Gln) c.787+2684A>C (n.787+2684A>C) c.1111A>C (p.Lys371Gln) | |
| 8 | g.54624972A>G | CA370989266 | RP1 | c.1090A>G (p.Lys364Glu) c.787+2684A>G (n.787+2684A>G) c.1111A>G (p.Lys371Glu) | |
| 8 | g.54624972A>T | CA370989267 | RP1 | c.1090A>T (p.Lys364Ter) c.787+2684A>T (n.787+2684A>T) c.1111A>T (p.Lys371Ter) | |
| 8 | g.54624973A>C | CA370989268 | RP1 | c.1091A>C (p.Lys364Thr) c.787+2685A>C (n.787+2685A>C) c.1112A>C (p.Lys371Thr) | |
| 8 | g.54624973A>G | CA370989269 | RP1 | c.1091A>G (p.Lys364Arg) c.787+2685A>G (n.787+2685A>G) c.1112A>G (p.Lys371Arg) | |
| 8 | g.54624973A>T | CA370989270 | RP1 | c.1091A>T (p.Lys364Met) c.787+2685A>T (n.787+2685A>T) c.1112A>T (p.Lys371Met) | |
| 8 | g.54624974G>A | CA461097743 | RP1 | c.1092G>A (p.Lys364=) c.787+2686G>A (n.787+2686G>A) c.1113G>A (p.Lys371=) | |
| 8 | g.54624974G>C | CA370989271 | RP1 | c.1092G>C (p.Lys364Asn) c.787+2686G>C (n.787+2686G>C) c.1113G>C (p.Lys371Asn) | |
| 8 | g.54624974G>T | CA370989272 | RP1 | c.1092G>T (p.Lys364Asn) c.787+2686G>T (n.787+2686G>T) c.1113G>T (p.Lys371Asn) | |
| 8 | g.54624975A= | CA1785187691 | RP1 | c.1093A= (p.Ser365=) c.787+2687A= (n.787+2687A=) c.1114A= (p.Ser372=) | |
| 8 | g.54624975A>C | CA370989273 | RP1 | c.1093A>C (p.Ser365Arg) c.787+2687A>C (n.787+2687A>C) c.1114A>C (p.Ser372Arg) | dbSNP |
| 8 | g.54624975A>G | CA370989274 | RP1 | c.1093A>G (p.Ser365Gly) c.787+2687A>G (n.787+2687A>G) c.1114A>G (p.Ser372Gly) | |
| 8 | g.54624975A>T | CA370989275 | RP1 | c.1093A>T (p.Ser365Cys) c.787+2687A>T (n.787+2687A>T) c.1114A>T (p.Ser372Cys) | |
| 8 | g.54624976G>A | CA4751319 | RP1 | c.1094G>A (p.Ser365Asn) c.787+2688G>A (n.787+2688G>A) c.1115G>A (p.Ser372Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.54624976G>C | CA370989277 | RP1 | c.1094G>C (p.Ser365Thr) c.787+2688G>C (n.787+2688G>C) c.1115G>C (p.Ser372Thr) | dbSNP |
| 8 | g.54624976G= | CA1785187692 | RP1 | c.1094G= (p.Ser365=) c.787+2688G= (n.787+2688G=) c.1115G= (p.Ser372=) | |
| 8 | g.54624976G>T | CA370989276 | RP1 | c.1094G>T (p.Ser365Ile) c.787+2688G>T (n.787+2688G>T) c.1115G>T (p.Ser372Ile) | |
| 8 | g.54624977T>A | CA370989278 | RP1 | c.1095T>A (p.Ser365Arg) c.787+2689T>A (n.787+2689T>A) c.1116T>A (p.Ser372Arg) | |
| 8 | g.54624977T>C | CA461097749 | RP1 | c.1095T>C (p.Ser365=) c.787+2689T>C (n.787+2689T>C) c.1116T>C (p.Ser372=) | gnomAD v4 |
| 8 | g.54624977T>G | CA370989279 | RP1 | c.1095T>G (p.Ser365Arg) c.787+2689T>G (n.787+2689T>G) c.1116T>G (p.Ser372Arg) | |
| 8 | g.54624978G>A | CA4751320 | RP1 | c.1096G>A (p.Glu366Lys) c.787+2690G>A (n.787+2690G>A) c.1117G>A (p.Glu373Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624978G>C | CA370989280 | RP1 | c.1096G>C (p.Glu366Gln) c.787+2690G>C (n.787+2690G>C) c.1117G>C (p.Glu373Gln) | |
| 8 | g.54624978G= | CA1785187693 | RP1 | c.1096G= (p.Glu366=) c.787+2690G= (n.787+2690G=) c.1117G= (p.Glu373=) | |
| 8 | g.54624978G>T | CA370989281 | RP1 | c.1096G>T (p.Glu366Ter) c.787+2690G>T (n.787+2690G>T) c.1117G>T (p.Glu373Ter) | |
| 8 | g.54624979A>C | CA370989282 | RP1 | c.1097A>C (p.Glu366Ala) c.787+2691A>C (n.787+2691A>C) c.1118A>C (p.Glu373Ala) | |
| 8 | g.54624979A>G | CA370989283 | RP1 | c.1097A>G (p.Glu366Gly) c.787+2691A>G (n.787+2691A>G) c.1118A>G (p.Glu373Gly) | |
| 8 | g.54624979A>T | CA370989284 | RP1 | c.1097A>T (p.Glu366Val) c.787+2691A>T (n.787+2691A>T) c.1118A>T (p.Glu373Val) | gnomAD v4 |
| 8 | g.54624980G>A | CA461097756 | RP1 | c.1098G>A (p.Glu366=) c.787+2692G>A (n.787+2692G>A) c.1119G>A (p.Glu373=) | |
| 8 | g.54624980G>C | CA370989285 | RP1 | c.1098G>C (p.Glu366Asp) c.787+2692G>C (n.787+2692G>C) c.1119G>C (p.Glu373Asp) | |
| 8 | g.54624980G>T | CA370989286 | RP1 | c.1098G>T (p.Glu366Asp) c.787+2692G>T (n.787+2692G>T) c.1119G>T (p.Glu373Asp) | |
| 8 | g.54624981A>C | CA370989287 | RP1 | c.1099A>C (p.Met367Leu) c.787+2693A>C (n.787+2693A>C) c.1120A>C (p.Met374Leu) | |
| 8 | g.54624981A>G | CA370989288 | RP1 | c.1099A>G (p.Met367Val) c.787+2693A>G (n.787+2693A>G) c.1120A>G (p.Met374Val) | |
| 8 | g.54624981A>T | CA370989289 | RP1 | c.1099A>T (p.Met367Leu) c.787+2693A>T (n.787+2693A>T) c.1120A>T (p.Met374Leu) | |
| 8 | g.54624982T>A | CA4751321 | RP1 | c.1100T>A (p.Met367Lys) c.787+2694T>A (n.787+2694T>A) c.1121T>A (p.Met374Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624982T>C | CA370989291 | RP1 | c.1100T>C (p.Met367Thr) c.787+2694T>C (n.787+2694T>C) c.1121T>C (p.Met374Thr) | |
| 8 | g.54624982T>G | CA370989290 | RP1 | c.1100T>G (p.Met367Arg) c.787+2694T>G (n.787+2694T>G) c.1121T>G (p.Met374Arg) | |
| 8 | g.54624982T= | CA1785187694 | RP1 | c.1100T= (p.Met367=) c.787+2694T= (n.787+2694T=) c.1121T= (p.Met374=) | |
| 8 | g.54624983G>A | CA370989292 | RP1 | c.1101G>A (p.Met367Ile) c.787+2695G>A (n.787+2695G>A) c.1122G>A (p.Met374Ile) | |
| 8 | g.54624983G>C | CA370989293 | RP1 | c.1101G>C (p.Met367Ile) c.787+2695G>C (n.787+2695G>C) c.1122G>C (p.Met374Ile) | |
| 8 | g.54624983G>T | CA370989294 | RP1 | c.1101G>T (p.Met367Ile) c.787+2695G>T (n.787+2695G>T) c.1122G>T (p.Met374Ile) | |
| 8 | g.54624984A>C | CA370989295 | RP1 | c.1102A>C (p.Ser368Arg) c.787+2696A>C (n.787+2696A>C) c.1123A>C (p.Ser375Arg) | |
| 8 | g.54624984A>G | CA370989296 | RP1 | c.1102A>G (p.Ser368Gly) c.787+2696A>G (n.787+2696A>G) c.1123A>G (p.Ser375Gly) | ClinVar gnomAD v4 |
| 8 | g.54624984A>T | CA370989297 | RP1 | c.1102A>T (p.Ser368Cys) c.787+2696A>T (n.787+2696A>T) c.1123A>T (p.Ser375Cys) | |
| 8 | g.54624985G>A | CA4751322 | RP1 | c.1103G>A (p.Ser368Asn) c.787+2697G>A (n.787+2697G>A) c.1124G>A (p.Ser375Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624985G>C | CA370989298 | RP1 | c.1103G>C (p.Ser368Thr) c.787+2697G>C (n.787+2697G>C) c.1124G>C (p.Ser375Thr) | |
| 8 | g.54624985G= | CA1785187695 | RP1 | c.1103G= (p.Ser368=) c.787+2697G= (n.787+2697G=) c.1124G= (p.Ser375=) | |
| 8 | g.54624985G>T | CA370989299 | RP1 | c.1103G>T (p.Ser368Ile) c.787+2697G>T (n.787+2697G>T) c.1124G>T (p.Ser375Ile) | |
| 8 | g.54624986T>A | CA370989300 | RP1 | c.1104T>A (p.Ser368Arg) c.787+2698T>A (n.787+2698T>A) c.1125T>A (p.Ser375Arg) | |
| 8 | g.54624986T>C | CA461097764 | RP1 | c.1104T>C (p.Ser368=) c.787+2698T>C (n.787+2698T>C) c.1125T>C (p.Ser375=) | |
| 8 | g.54624986T>G | CA370989301 | RP1 | c.1104T>G (p.Ser368Arg) c.787+2698T>G (n.787+2698T>G) c.1125T>G (p.Ser375Arg) | |
| 8 | g.54624987T>A | CA370989304 | RP1 | c.1105T>A (p.Phe369Ile) c.787+2699T>A (n.787+2699T>A) c.1126T>A (p.Phe376Ile) | COSMIC |
| 8 | g.54624987T>C | CA370989303 | RP1 | c.1105T>C (p.Phe369Leu) c.787+2699T>C (n.787+2699T>C) c.1126T>C (p.Phe376Leu) | gnomAD v4 |
| 8 | g.54624987T>G | CA370989302 | RP1 | c.1105T>G (p.Phe369Val) c.787+2699T>G (n.787+2699T>G) c.1126T>G (p.Phe376Val) | |
| 8 | g.54624988T>A | CA370989306 | RP1 | c.1106T>A (p.Phe369Tyr) c.787+2700T>A (n.787+2700T>A) c.1127T>A (p.Phe376Tyr) | |
| 8 | g.54624988T>C | CA370989305 | RP1 | c.1106T>C (p.Phe369Ser) c.787+2700T>C (n.787+2700T>C) c.1127T>C (p.Phe376Ser) | |
| 8 | g.54624988T>G | CA370989307 | RP1 | c.1106T>G (p.Phe369Cys) c.787+2700T>G (n.787+2700T>G) c.1127T>G (p.Phe376Cys) | |
| 8 | g.54624989T>A | CA370989308 | RP1 | c.1107T>A (p.Phe369Leu) c.787+2701T>A (n.787+2701T>A) c.1128T>A (p.Phe376Leu) | |
| 8 | g.54624989T>C | CA461097770 | RP1 | c.1107T>C (p.Phe369=) c.787+2701T>C (n.787+2701T>C) c.1128T>C (p.Phe376=) | |
| 8 | g.54624989T>G | CA370989309 | RP1 | c.1107T>G (p.Phe369Leu) c.787+2701T>G (n.787+2701T>G) c.1128T>G (p.Phe376Leu) | |
| 8 | g.54624990C>A | CA370989310 | RP1 | c.1108C>A (p.Pro370Thr) c.787+2702C>A (n.787+2702C>A) c.1129C>A (p.Pro377Thr) | |
| 8 | g.54624990C>G | CA370989311 | RP1 | c.1108C>G (p.Pro370Ala) c.787+2702C>G (n.787+2702C>G) c.1129C>G (p.Pro377Ala) | gnomAD v4 |
| 8 | g.54624990C>T | CA370989312 | RP1 | c.1108C>T (p.Pro370Ser) c.787+2702C>T (n.787+2702C>T) c.1129C>T (p.Pro377Ser) | COSMIC |
| 8 | g.54624991C>A | CA370989313 | RP1 | c.1109C>A (p.Pro370Gln) c.787+2703C>A (n.787+2703C>A) c.1130C>A (p.Pro377Gln) | |
| 8 | g.54624991C= | CA1785187696 | RP1 | c.1109C= (p.Pro370=) c.787+2703C= (n.787+2703C=) c.1130C= (p.Pro377=) | |
| 8 | g.54624991C>G | CA370989314 | RP1 | c.1109C>G (p.Pro370Arg) c.787+2703C>G (n.787+2703C>G) c.1130C>G (p.Pro377Arg) | |
| 8 | g.54624991C>T | CA4751323 | RP1 | c.1109C>T (p.Pro370Leu) c.787+2703C>T (n.787+2703C>T) c.1130C>T (p.Pro377Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624992A>C | CA461097775 | RP1 | c.1110A>C (p.Pro370=) c.787+2704A>C (n.787+2704A>C) c.1131A>C (p.Pro377=) | COSMIC |
| 8 | g.54624992A>G | CA461097776 | RP1 | c.1110A>G (p.Pro370=) c.787+2704A>G (n.787+2704A>G) c.1131A>G (p.Pro377=) | ClinVar dbSNP |
| 8 | g.54624992A>T | CA461097777 | RP1 | c.1110A>T (p.Pro370=) c.787+2704A>T (n.787+2704A>T) c.1131A>T (p.Pro377=) | |
| 8 | g.54624993G>A | CA370989315 | RP1 | c.1111G>A (p.Gly371Arg) c.787+2705G>A (n.787+2705G>A) c.1132G>A (p.Gly378Arg) | gnomAD v4 |
| 8 | g.54624993G>C | CA370989316 | RP1 | c.1111G>C (p.Gly371Arg) c.787+2705G>C (n.787+2705G>C) c.1132G>C (p.Gly378Arg) | |
| 8 | g.54624993G>T | CA370989317 | RP1 | c.1111G>T (p.Gly371Ter) c.787+2705G>T (n.787+2705G>T) c.1132G>T (p.Gly378Ter) | COSMIC |
| 8 | g.54624994G>A | CA370989318 | RP1 | c.1112G>A (p.Gly371Glu) c.787+2706G>A (n.787+2706G>A) c.1133G>A (p.Gly378Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54624994G>C | CA370989319 | RP1 | c.1112G>C (p.Gly371Ala) c.787+2706G>C (n.787+2706G>C) c.1133G>C (p.Gly378Ala) | |
| 8 | g.54624994G= | CA1785187697 | RP1 | c.1112G= (p.Gly371=) c.787+2706G= (n.787+2706G=) c.1133G= (p.Gly378=) | |
| 8 | g.54624994G>T | CA370989320 | RP1 | c.1112G>T (p.Gly371Val) c.787+2706G>T (n.787+2706G>T) c.1133G>T (p.Gly378Val) | ClinVar |
| 8 | g.54624995A>C | CA461097781 | RP1 | c.1113A>C (p.Gly371=) c.787+2707A>C (n.787+2707A>C) c.1134A>C (p.Gly378=) | |
| 8 | g.54624995A>G | CA461097782 | RP1 | c.1113A>G (p.Gly371=) c.787+2707A>G (n.787+2707A>G) c.1134A>G (p.Gly378=) | |
| 8 | g.54624995A>T | CA461097784 | RP1 | c.1113A>T (p.Gly371=) c.787+2707A>T (n.787+2707A>T) c.1134A>T (p.Gly378=) | |
| 8 | g.54624996A= | CA1785187698 | RP1 | c.1114A= (p.Arg372=) c.787+2708A= (n.787+2708A=) c.1135A= (p.Arg379=) | |
| 8 | g.54624996A>C | CA461097786 | RP1 | c.1114A>C (p.Arg372=) c.787+2708A>C (n.787+2708A>C) c.1135A>C (p.Arg379=) | |
| 8 | g.54624996A>G | CA4751324 | RP1 | c.1114A>G (p.Arg372Gly) c.787+2708A>G (n.787+2708A>G) c.1135A>G (p.Arg379Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54624996A>T | CA370989321 | RP1 | c.1114A>T (p.Arg372Ter) c.787+2708A>T (n.787+2708A>T) c.1135A>T (p.Arg379Ter) | |
| 8 | g.54624996_54624997delinsTA | CA645545863 | RP1 | c.1114_1115delinsTA (p.Arg372Ter) c.787+2708_787+2709delinsTA (n.787+2708_787+2709delinsTA) c.1135_1136delinsTA (p.Arg379Ter) | COSMIC |
| 8 | g.54624997G>A | CA177236624 | RP1 | c.1115G>A (p.Arg372Lys) c.787+2709G>A (n.787+2709G>A) c.1136G>A (p.Arg379Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54624997G>C | CA370989322 | RP1 | c.1115G>C (p.Arg372Thr) c.787+2709G>C (n.787+2709G>C) c.1136G>C (p.Arg379Thr) | |
| 8 | g.54624997G= | CA1785187699 | RP1 | c.1115G= (p.Arg372=) c.787+2709G= (n.787+2709G=) c.1136G= (p.Arg379=) | |
| 8 | g.54624997G>T | CA370989323 | RP1 | c.1115G>T (p.Arg372Ile) c.787+2709G>T (n.787+2709G>T) c.1136G>T (p.Arg379Ile) | |
| 8 | g.54624998A>C | CA370989324 | RP1 | c.1116A>C (p.Arg372Ser) c.787+2710A>C (n.787+2710A>C) c.1137A>C (p.Arg379Ser) | |
| 8 | g.54624998A>G | CA461097791 | RP1 | c.1116A>G (p.Arg372=) c.787+2710A>G (n.787+2710A>G) c.1137A>G (p.Arg379=) | |
| 8 | g.54624998A>T | CA370989325 | RP1 | c.1116A>T (p.Arg372Ser) c.787+2710A>T (n.787+2710A>T) c.1137A>T (p.Arg379Ser) | |
| 8 | g.54624999A>C | CA370989326 | RP1 | c.1117A>C (p.Thr373Pro) c.787+2711A>C (n.787+2711A>C) c.1138A>C (p.Thr380Pro) | |
| 8 | g.54624999A>G | CA370989327 | RP1 | c.1117A>G (p.Thr373Ala) c.787+2711A>G (n.787+2711A>G) c.1138A>G (p.Thr380Ala) | |
| 8 | g.54624999A>T | CA370989328 | RP1 | c.1117A>T (p.Thr373Ser) c.787+2711A>T (n.787+2711A>T) c.1138A>T (p.Thr380Ser) | |
| 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) |