OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 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) |