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.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) | |
| 8 | g.54625101G>A | CA370989569 | RP1 | c.1219G>A (p.Glu407Lys) c.787+2813G>A (n.787+2813G>A) c.1240G>A (p.Glu414Lys) | gnomAD v4 COSMIC |
| 8 | g.54625101G>C | CA370989571 | RP1 | c.1219G>C (p.Glu407Gln) c.787+2813G>C (n.787+2813G>C) c.1240G>C (p.Glu414Gln) | |
| 8 | g.54625101G>T | CA370989573 | RP1 | c.1219G>T (p.Glu407Ter) c.787+2813G>T (n.787+2813G>T) c.1240G>T (p.Glu414Ter) | |
| 8 | g.54625102A>C | CA370989574 | RP1 | c.1220A>C (p.Glu407Ala) c.787+2814A>C (n.787+2814A>C) c.1241A>C (p.Glu414Ala) | gnomAD v4 |
| 8 | g.54625102A>G | CA370989576 | RP1 | c.1220A>G (p.Glu407Gly) c.787+2814A>G (n.787+2814A>G) c.1241A>G (p.Glu414Gly) | |
| 8 | g.54625102A>T | CA370989578 | RP1 | c.1220A>T (p.Glu407Val) c.787+2814A>T (n.787+2814A>T) c.1241A>T (p.Glu414Val) | |
| 8 | g.54625103G>A | CA461098305 | RP1 | c.1221G>A (p.Glu407=) c.787+2815G>A (n.787+2815G>A) c.1242G>A (p.Glu414=) | COSMIC |
| 8 | g.54625103G>C | CA370989580 | RP1 | c.1221G>C (p.Glu407Asp) c.787+2815G>C (n.787+2815G>C) c.1242G>C (p.Glu414Asp) | |
| 8 | g.54625103G>T | CA370989582 | RP1 | c.1221G>T (p.Glu407Asp) c.787+2815G>T (n.787+2815G>T) c.1242G>T (p.Glu414Asp) | |
| 8 | g.54625104A>C | CA370989584 | RP1 | c.1222A>C (p.Ile408Leu) c.787+2816A>C (n.787+2816A>C) c.1243A>C (p.Ile415Leu) | |
| 8 | g.54625104A>G | CA370989586 | RP1 | c.1222A>G (p.Ile408Val) c.787+2816A>G (n.787+2816A>G) c.1243A>G (p.Ile415Val) | gnomAD v4 |
| 8 | g.54625104A>T | CA370989587 | RP1 | c.1222A>T (p.Ile408Leu) c.787+2816A>T (n.787+2816A>T) c.1243A>T (p.Ile415Leu) | |
| 8 | g.54625105T>A | CA370989588 | RP1 | c.1223T>A (p.Ile408Lys) c.787+2817T>A (n.787+2817T>A) c.1244T>A (p.Ile415Lys) | |
| 8 | g.54625105T>C | CA370989589 | RP1 | c.1223T>C (p.Ile408Thr) c.787+2817T>C (n.787+2817T>C) c.1244T>C (p.Ile415Thr) | dbSNP |
| 8 | g.54625105T>G | CA370989591 | RP1 | c.1223T>G (p.Ile408Arg) c.787+2817T>G (n.787+2817T>G) c.1244T>G (p.Ile415Arg) | dbSNP gnomAD v4 |
| 8 | g.54625105T= | CA1785187741 | RP1 | c.1223T= (p.Ile408=) c.787+2817T= (n.787+2817T=) c.1244T= (p.Ile415=) | |
| 8 | g.54625106A>C | CA461098309 | RP1 | c.1224A>C (p.Ile408=) c.787+2818A>C (n.787+2818A>C) c.1245A>C (p.Ile415=) | |
| 8 | g.54625106A>G | CA370989593 | RP1 | c.1224A>G (p.Ile408Met) c.787+2818A>G (n.787+2818A>G) c.1245A>G (p.Ile415Met) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625106A>T | CA461098310 | RP1 | c.1224A>T (p.Ile408=) c.787+2818A>T (n.787+2818A>T) c.1245A>T (p.Ile415=) | |
| 8 | g.54625107A>C | CA370989595 | RP1 | c.1225A>C (p.Asn409His) c.787+2819A>C (n.787+2819A>C) c.1246A>C (p.Asn416His) | |
| 8 | g.54625107A>G | CA370989596 | RP1 | c.1225A>G (p.Asn409Asp) c.787+2819A>G (n.787+2819A>G) c.1246A>G (p.Asn416Asp) | |
| 8 | g.54625107A>T | CA370989597 | RP1 | c.1225A>T (p.Asn409Tyr) c.787+2819A>T (n.787+2819A>T) c.1246A>T (p.Asn416Tyr) | |
| 8 | g.54625108A>C | CA370989599 | RP1 | c.1226A>C (p.Asn409Thr) c.787+2820A>C (n.787+2820A>C) c.1247A>C (p.Asn416Thr) | |
| 8 | g.54625108A>G | CA370989600 | RP1 | c.1226A>G (p.Asn409Ser) c.787+2820A>G (n.787+2820A>G) c.1247A>G (p.Asn416Ser) | |
| 8 | g.54625108A>T | CA370989602 | RP1 | c.1226A>T (p.Asn409Ile) c.787+2820A>T (n.787+2820A>T) c.1247A>T (p.Asn416Ile) | |
| 8 | g.54625109C>A | CA370989604 | RP1 | c.1227C>A (p.Asn409Lys) c.787+2821C>A (n.787+2821C>A) c.1248C>A (p.Asn416Lys) | |
| 8 | g.54625109C= | CA1785187742 | RP1 | c.1227C= (p.Asn409=) c.787+2821C= (n.787+2821C=) c.1248C= (p.Asn416=) | |
| 8 | g.54625109C>G | CA370989606 | RP1 | c.1227C>G (p.Asn409Lys) c.787+2821C>G (n.787+2821C>G) c.1248C>G (p.Asn416Lys) | |
| 8 | g.54625109C>T | CA4751338 | RP1 | c.1227C>T (p.Asn409=) c.787+2821C>T (n.787+2821C>T) c.1248C>T (p.Asn416=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625110A= | CA1785187743 | RP1 | c.1228A= (p.Ile410=) c.787+2822A= (n.787+2822A=) c.1249A= (p.Ile417=) | |
| 8 | g.54625110A>C | CA370989608 | RP1 | c.1228A>C (p.Ile410Leu) c.787+2822A>C (n.787+2822A>C) c.1249A>C (p.Ile417Leu) | |
| 8 | g.54625110A>G | CA370989610 | RP1 | c.1228A>G (p.Ile410Val) c.787+2822A>G (n.787+2822A>G) c.1249A>G (p.Ile417Val) | gnomAD v4 |
| 8 | g.54625110A>T | CA370989611 | RP1 | c.1228A>T (p.Ile410Phe) c.787+2822A>T (n.787+2822A>T) c.1249A>T (p.Ile417Phe) | |
| 8 | g.54625111T>A | CA370989613 | RP1 | c.1229T>A (p.Ile410Asn) c.787+2823T>A (n.787+2823T>A) c.1250T>A (p.Ile417Asn) | |
| 8 | g.54625111T>C | CA370989614 | RP1 | c.1229T>C (p.Ile410Thr) c.787+2823T>C (n.787+2823T>C) c.1250T>C (p.Ile417Thr) | |
| 8 | g.54625111T>G | CA370989616 | RP1 | c.1229T>G (p.Ile410Ser) c.787+2823T>G (n.787+2823T>G) c.1250T>G (p.Ile417Ser) | |
| 8 | g.54625112dup | CA582187874 | RP1 | c.1230dup (p.Gln411SerfsTer8) c.787+2824dup (n.787+2824dup) c.1251dup (p.Gln418SerfsTer8) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625112T>A | CA461098320 | RP1 | c.1230T>A (p.Ile410=) c.787+2824T>A (n.787+2824T>A) c.1251T>A (p.Ile417=) | |
| 8 | g.54625112T>C | CA461098318 | RP1 | c.1230T>C (p.Ile410=) c.787+2824T>C (n.787+2824T>C) c.1251T>C (p.Ile417=) | |
| 8 | g.54625112T>G | CA370989617 | RP1 | c.1230T>G (p.Ile410Met) c.787+2824T>G (n.787+2824T>G) c.1251T>G (p.Ile417Met) | |
| 8 | g.54625113C>A | CA370989619 | RP1 | c.1231C>A (p.Gln411Lys) c.787+2825C>A (n.787+2825C>A) c.1252C>A (p.Gln418Lys) | |
| 8 | g.54625113C= | CA1785187744 | RP1 | c.1231C= (p.Gln411=) c.787+2825C= (n.787+2825C=) c.1252C= (p.Gln418=) | |
| 8 | g.54625113C>G | CA370989621 | RP1 | c.1231C>G (p.Gln411Glu) c.787+2825C>G (n.787+2825C>G) c.1252C>G (p.Gln418Glu) | gnomAD v4 |
| 8 | g.54625113C>T | CA370989622 | RP1 | c.1231C>T (p.Gln411Ter) c.787+2825C>T (n.787+2825C>T) c.1252C>T (p.Gln418Ter) | |
| 8 | g.54625114A>C | CA370989626 | RP1 | c.1232A>C (p.Gln411Pro) c.787+2826A>C (n.787+2826A>C) c.1253A>C (p.Gln418Pro) | |
| 8 | g.54625114A>G | CA370989627 | RP1 | c.1232A>G (p.Gln411Arg) c.787+2826A>G (n.787+2826A>G) c.1253A>G (p.Gln418Arg) | |
| 8 | g.54625114A>T | CA370989629 | RP1 | c.1232A>T (p.Gln411Leu) c.787+2826A>T (n.787+2826A>T) c.1253A>T (p.Gln418Leu) | |
| 8 | g.54625116dup | CA4751339 | RP1 | c.1234dup (p.Met412AsnfsTer7) c.787+2828dup (n.787+2828dup) c.1255dup (p.Met419AsnfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625115A>C | CA370989631 | RP1 | c.1233A>C (p.Gln411His) c.787+2827A>C (n.787+2827A>C) c.1254A>C (p.Gln418His) | |
| 8 | g.54625115A>G | CA461098323 | RP1 | c.1233A>G (p.Gln411=) c.787+2827A>G (n.787+2827A>G) c.1254A>G (p.Gln418=) | |
| 8 | g.54625115A>T | CA370989632 | RP1 | c.1233A>T (p.Gln411His) c.787+2827A>T (n.787+2827A>T) c.1254A>T (p.Gln418His) | |
| 8 | g.54625116A= | CA1785187745 | RP1 | c.1234A= (p.Met412=) c.787+2828A= (n.787+2828A=) c.1255A= (p.Met419=) | |
| 8 | g.54625116A>C | CA370989633 | RP1 | c.1234A>C (p.Met412Leu) c.787+2828A>C (n.787+2828A>C) c.1255A>C (p.Met419Leu) | |
| 8 | g.54625116A>G | CA370989635 | RP1 | c.1234A>G (p.Met412Val) c.787+2828A>G (n.787+2828A>G) c.1255A>G (p.Met419Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625116A>T | CA370989637 | RP1 | c.1234A>T (p.Met412Leu) c.787+2828A>T (n.787+2828A>T) c.1255A>T (p.Met419Leu) | |
| 8 | g.54625117T>A | CA370989640 | RP1 | c.1235T>A (p.Met412Lys) c.787+2829T>A (n.787+2829T>A) c.1256T>A (p.Met419Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625117T>C | CA4751340 | RP1 | c.1235T>C (p.Met412Thr) c.787+2829T>C (n.787+2829T>C) c.1256T>C (p.Met419Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54625117T>G | CA370989642 | RP1 | c.1235T>G (p.Met412Arg) c.787+2829T>G (n.787+2829T>G) c.1256T>G (p.Met419Arg) | |
| 8 | g.54625117T= | CA1785187746 | RP1 | c.1235T= (p.Met412=) c.787+2829T= (n.787+2829T=) c.1256T= (p.Met419=) | |
| 8 | g.54625118G>A | CA370989644 | RP1 | c.1236G>A (p.Met412Ile) c.787+2830G>A (n.787+2830G>A) c.1257G>A (p.Met419Ile) | |
| 8 | g.54625118G>C | CA370989646 | RP1 | c.1236G>C (p.Met412Ile) c.787+2830G>C (n.787+2830G>C) c.1257G>C (p.Met419Ile) | |
| 8 | g.54625118G>T | CA370989647 | RP1 | c.1236G>T (p.Met412Ile) c.787+2830G>T (n.787+2830G>T) c.1257G>T (p.Met419Ile) | |
| 8 | g.54625119A>C | CA370989649 | RP1 | c.1237A>C (p.Thr413Pro) c.787+2831A>C (n.787+2831A>C) c.1258A>C (p.Thr420Pro) | |
| 8 | g.54625119A>G | CA370989650 | RP1 | c.1237A>G (p.Thr413Ala) c.787+2831A>G (n.787+2831A>G) c.1258A>G (p.Thr420Ala) | |
| 8 | g.54625119A>T | CA370989652 | RP1 | c.1237A>T (p.Thr413Ser) c.787+2831A>T (n.787+2831A>T) c.1258A>T (p.Thr420Ser) | |
| 8 | g.54625120C>A | CA370989656 | RP1 | c.1238C>A (p.Thr413Lys) c.787+2832C>A (n.787+2832C>A) c.1259C>A (p.Thr420Lys) | |
| 8 | g.54625120C>G | CA370989657 | RP1 | c.1238C>G (p.Thr413Arg) c.787+2832C>G (n.787+2832C>G) c.1259C>G (p.Thr420Arg) | |
| 8 | g.54625120C>T | CA370989654 | RP1 | c.1238C>T (p.Thr413Ile) c.787+2832C>T (n.787+2832C>T) c.1259C>T (p.Thr420Ile) | |
| 8 | g.54625121A>C | CA461098329 | RP1 | c.1239A>C (p.Thr413=) c.787+2833A>C (n.787+2833A>C) c.1260A>C (p.Thr420=) | |
| 8 | g.54625121A>G | CA461098330 | RP1 | c.1239A>G (p.Thr413=) c.787+2833A>G (n.787+2833A>G) c.1260A>G (p.Thr420=) | |
| 8 | g.54625121A>T | CA461098331 | RP1 | c.1239A>T (p.Thr413=) c.787+2833A>T (n.787+2833A>T) c.1260A>T (p.Thr420=) | |
| 8 | g.54625122G>A | CA370989659 | RP1 | c.1240G>A (p.Asp414Asn) c.787+2834G>A (n.787+2834G>A) c.1261G>A (p.Asp421Asn) | |
| 8 | g.54625122G>C | CA370989661 | RP1 | c.1240G>C (p.Asp414His) c.787+2834G>C (n.787+2834G>C) c.1261G>C (p.Asp421His) | |
| 8 | g.54625122G>T | CA370989663 | RP1 | c.1240G>T (p.Asp414Tyr) c.787+2834G>T (n.787+2834G>T) c.1261G>T (p.Asp421Tyr) | ClinVar |
| 8 | g.54625123A= | CA1785187747 | RP1 | c.1241A= (p.Asp414=) c.787+2835A= (n.787+2835A=) c.1262A= (p.Asp421=) | |
| 8 | g.54625123A>C | CA370989665 | RP1 | c.1241A>C (p.Asp414Ala) c.787+2835A>C (n.787+2835A>C) c.1262A>C (p.Asp421Ala) | |
| 8 | g.54625123A>G | CA370989666 | RP1 | c.1241A>G (p.Asp414Gly) c.787+2835A>G (n.787+2835A>G) c.1262A>G (p.Asp421Gly) | ClinVar dbSNP |
| 8 | g.54625123A>T | CA370989668 | RP1 | c.1241A>T (p.Asp414Val) c.787+2835A>T (n.787+2835A>T) c.1262A>T (p.Asp421Val) | |
| 8 | g.54625124T>A | CA370989670 | RP1 | c.1242T>A (p.Asp414Glu) c.787+2836T>A (n.787+2836T>A) c.1263T>A (p.Asp421Glu) | |
| 8 | g.54625124T>C | CA461098333 | RP1 | c.1242T>C (p.Asp414=) c.787+2836T>C (n.787+2836T>C) c.1263T>C (p.Asp421=) | dbSNP |
| 8 | g.54625124T>G | CA370989671 | RP1 | c.1242T>G (p.Asp414Glu) c.787+2836T>G (n.787+2836T>G) c.1263T>G (p.Asp421Glu) | |
| 8 | g.54625124T= | CA1785187748 | RP1 | c.1242T= (p.Asp414=) c.787+2836T= (n.787+2836T=) c.1263T= (p.Asp421=) | |
| 8 | g.54625125C>A | CA370989673 | RP1 | c.1243C>A (p.Gln415Lys) c.787+2837C>A (n.787+2837C>A) c.1264C>A (p.Gln422Lys) | |
| 8 | g.54625125C= | CA1785187749 | RP1 | c.1243C= (p.Gln415=) c.787+2837C= (n.787+2837C=) c.1264C= (p.Gln422=) | |
| 8 | g.54625125C>G | CA177236668 | RP1 | c.1243C>G (p.Gln415Glu) c.787+2837C>G (n.787+2837C>G) c.1264C>G (p.Gln422Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625125C>T | CA370989675 | RP1 | c.1243C>T (p.Gln415Ter) c.787+2837C>T (n.787+2837C>T) c.1264C>T (p.Gln422Ter) | |
| 8 | g.54625126A= | CA1785187750 | RP1 | c.1244A= (p.Gln415=) c.787+2838A= (n.787+2838A=) c.1265A= (p.Gln422=) | |
| 8 | g.54625126A>C | CA370989677 | RP1 | c.1244A>C (p.Gln415Pro) c.787+2838A>C (n.787+2838A>C) c.1265A>C (p.Gln422Pro) | dbSNP |
| 8 | g.54625126A>G | CA370989679 | RP1 | c.1244A>G (p.Gln415Arg) c.787+2838A>G (n.787+2838A>G) c.1265A>G (p.Gln422Arg) | |
| 8 | g.54625126A>T | CA370989681 | RP1 | c.1244A>T (p.Gln415Leu) c.787+2838A>T (n.787+2838A>T) c.1265A>T (p.Gln422Leu) | |
| 8 | g.54625127A>C | CA370989684 | RP1 | c.1245A>C (p.Gln415His) c.787+2839A>C (n.787+2839A>C) c.1266A>C (p.Gln422His) | |
| 8 | g.54625127A>G | CA461098336 | RP1 | c.1245A>G (p.Gln415=) c.787+2839A>G (n.787+2839A>G) c.1266A>G (p.Gln422=) | |
| 8 | g.54625127A>T | CA370989682 | RP1 | c.1245A>T (p.Gln415His) c.787+2839A>T (n.787+2839A>T) c.1266A>T (p.Gln422His) | |
| 8 | g.54625128G>A | CA370989685 | RP1 | c.1246G>A (p.Val416Met) c.787+2840G>A (n.787+2840G>A) c.1267G>A (p.Val423Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625128G>C | CA370989686 | RP1 | c.1246G>C (p.Val416Leu) c.787+2840G>C (n.787+2840G>C) c.1267G>C (p.Val423Leu) | |
| 8 | g.54625128G= | CA1785187751 | RP1 | c.1246G= (p.Val416=) c.787+2840G= (n.787+2840G=) c.1267G= (p.Val423=) | |
| 8 | g.54625128G>T | CA370989687 | RP1 | c.1246G>T (p.Val416Leu) c.787+2840G>T (n.787+2840G>T) c.1267G>T (p.Val423Leu) | |
| 8 | g.54625129T>A | CA370989689 | RP1 | c.1247T>A (p.Val416Glu) c.787+2841T>A (n.787+2841T>A) c.1268T>A (p.Val423Glu) | |
| 8 | g.54625129T>C | CA370989690 | RP1 | c.1247T>C (p.Val416Ala) c.787+2841T>C (n.787+2841T>C) c.1268T>C (p.Val423Ala) | gnomAD v4 |
| 8 | g.54625129T>G | CA370989691 | RP1 | c.1247T>G (p.Val416Gly) c.787+2841T>G (n.787+2841T>G) c.1268T>G (p.Val423Gly) | gnomAD v4 |
| 8 | g.54625130G>A | CA461098338 | RP1 | c.1248G>A (p.Val416=) c.787+2842G>A (n.787+2842G>A) c.1269G>A (p.Val423=) | |
| 8 | g.54625130G>C | CA461098339 | RP1 | c.1248G>C (p.Val416=) c.787+2842G>C (n.787+2842G>C) c.1269G>C (p.Val423=) | |
| 8 | g.54625130G>T | CA461098340 | RP1 | c.1248G>T (p.Val416=) c.787+2842G>T (n.787+2842G>T) c.1269G>T (p.Val423=) | |
| 8 | g.54625131G>A | CA370989697 | RP1 | c.1249G>A (p.Ala417Thr) c.787+2843G>A (n.787+2843G>A) c.1270G>A (p.Ala424Thr) | gnomAD v4 |
| 8 | g.54625131G>C | CA370989695 | RP1 | c.1249G>C (p.Ala417Pro) c.787+2843G>C (n.787+2843G>C) c.1270G>C (p.Ala424Pro) | |
| 8 | g.54625131G= | CA1785187752 | RP1 | c.1249G= (p.Ala417=) c.787+2843G= (n.787+2843G=) c.1270G= (p.Ala424=) | |
| 8 | g.54625131G>T | CA370989693 | RP1 | c.1249G>T (p.Ala417Ser) c.787+2843G>T (n.787+2843G>T) c.1270G>T (p.Ala424Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625132C>A | CA370989698 | RP1 | c.1250C>A (p.Ala417Asp) c.787+2844C>A (n.787+2844C>A) c.1271C>A (p.Ala424Asp) | |
| 8 | g.54625132C>G | CA370989700 | RP1 | c.1250C>G (p.Ala417Gly) c.787+2844C>G (n.787+2844C>G) c.1271C>G (p.Ala424Gly) | |
| 8 | g.54625132C>T | CA370989706 | RP1 | c.1250C>T (p.Ala417Val) c.787+2844C>T (n.787+2844C>T) c.1271C>T (p.Ala424Val) | |
| 8 | g.54625133T>A | CA461098346 | RP1 | c.1251T>A (p.Ala417=) c.787+2845T>A (n.787+2845T>A) c.1272T>A (p.Ala424=) | |
| 8 | g.54625133T>C | CA461098343 | RP1 | c.1251T>C (p.Ala417=) c.787+2845T>C (n.787+2845T>C) c.1272T>C (p.Ala424=) | |
| 8 | g.54625133T>G | CA461098345 | RP1 | c.1251T>G (p.Ala417=) c.787+2845T>G (n.787+2845T>G) c.1272T>G (p.Ala424=) | |
| 8 | g.54625134G>A | CA370989708 | RP1 | c.1252G>A (p.Glu418Lys) c.787+2846G>A (n.787+2846G>A) c.1273G>A (p.Glu425Lys) | COSMIC |
| 8 | g.54625134G>C | CA370989710 | RP1 | c.1252G>C (p.Glu418Gln) c.787+2846G>C (n.787+2846G>C) c.1273G>C (p.Glu425Gln) | |
| 8 | g.54625134G>T | CA370989711 | RP1 | c.1252G>T (p.Glu418Ter) c.787+2846G>T (n.787+2846G>T) c.1273G>T (p.Glu425Ter) | |
| 8 | g.54625135A>C | CA370989712 | RP1 | c.1253A>C (p.Glu418Ala) c.787+2847A>C (n.787+2847A>C) c.1274A>C (p.Glu425Ala) | |
| 8 | g.54625135A>G | CA370989715 | RP1 | c.1253A>G (p.Glu418Gly) c.787+2847A>G (n.787+2847A>G) c.1274A>G (p.Glu425Gly) | gnomAD v4 |
| 8 | g.54625135A>T | CA370989714 | RP1 | c.1253A>T (p.Glu418Val) c.787+2847A>T (n.787+2847A>T) c.1274A>T (p.Glu425Val) | |
| 8 | g.54625136A>C | CA370989717 | RP1 | c.1254A>C (p.Glu418Asp) c.787+2848A>C (n.787+2848A>C) c.1275A>C (p.Glu425Asp) | |
| 8 | g.54625136A>G | CA461098348 | RP1 | c.1254A>G (p.Glu418=) c.787+2848A>G (n.787+2848A>G) c.1275A>G (p.Glu425=) | |
| 8 | g.54625136A>T | CA370989718 | RP1 | c.1254A>T (p.Glu418Asp) c.787+2848A>T (n.787+2848A>T) c.1275A>T (p.Glu425Asp) | |
| 8 | g.54625137A>C | CA370989720 | RP1 | c.1255A>C (p.Thr419Pro) c.787+2849A>C (n.787+2849A>C) c.1276A>C (p.Thr426Pro) | |
| 8 | g.54625137A>G | CA370989722 | RP1 | c.1255A>G (p.Thr419Ala) c.787+2849A>G (n.787+2849A>G) c.1276A>G (p.Thr426Ala) | |
| 8 | g.54625137A>T | CA370989723 | RP1 | c.1255A>T (p.Thr419Ser) c.787+2849A>T (n.787+2849A>T) c.1276A>T (p.Thr426Ser) | |
| 8 | g.54625138C>A | CA370989725 | RP1 | c.1256C>A (p.Thr419Asn) c.787+2850C>A (n.787+2850C>A) c.1277C>A (p.Thr426Asn) | |
| 8 | g.54625138C>G | CA370989726 | RP1 | c.1256C>G (p.Thr419Ser) c.787+2850C>G (n.787+2850C>G) c.1277C>G (p.Thr426Ser) | |
| 8 | g.54625138C>T | CA370989727 | RP1 | c.1256C>T (p.Thr419Ile) c.787+2850C>T (n.787+2850C>T) c.1277C>T (p.Thr426Ile) | |
| 8 | g.54625139T>A | CA461098350 | RP1 | c.1257T>A (p.Thr419=) c.787+2851T>A (n.787+2851T>A) c.1278T>A (p.Thr426=) | |
| 8 | g.54625139T>C | CA177236670 | RP1 | c.1257T>C (p.Thr419=) c.787+2851T>C (n.787+2851T>C) c.1278T>C (p.Thr426=) | dbSNP |
| 8 | g.54625139T>G | CA461098351 | RP1 | c.1257T>G (p.Thr419=) c.787+2851T>G (n.787+2851T>G) c.1278T>G (p.Thr426=) | |
| 8 | g.54625139T= | CA1785187753 | RP1 | c.1257T= (p.Thr419=) c.787+2851T= (n.787+2851T=) c.1278T= (p.Thr426=) | |
| 8 | g.54625140T>A | CA370989729 | RP1 | c.1258T>A (p.Cys420Ser) c.787+2852T>A (n.787+2852T>A) c.1279T>A (p.Cys427Ser) | |
| 8 | g.54625140T>C | CA370989735 | RP1 | c.1258T>C (p.Cys420Arg) c.787+2852T>C (n.787+2852T>C) c.1279T>C (p.Cys427Arg) | |
| 8 | g.54625140T>G | CA370989737 | RP1 | c.1258T>G (p.Cys420Gly) c.787+2852T>G (n.787+2852T>G) c.1279T>G (p.Cys427Gly) | |
| 8 | g.54625141G>A | CA370989740 | RP1 | c.1259G>A (p.Cys420Tyr) c.787+2853G>A (n.787+2853G>A) c.1280G>A (p.Cys427Tyr) | dbSNP gnomAD v4 COSMIC |
| 8 | g.54625141G>C | CA370989741 | RP1 | c.1259G>C (p.Cys420Ser) c.787+2853G>C (n.787+2853G>C) c.1280G>C (p.Cys427Ser) | |
| 8 | g.54625141G= | CA1785187754 | RP1 | c.1259G= (p.Cys420=) c.787+2853G= (n.787+2853G=) c.1280G= (p.Cys427=) | |
| 8 | g.54625141G>T | CA370989738 | RP1 | c.1259G>T (p.Cys420Phe) c.787+2853G>T (n.787+2853G>T) c.1280G>T (p.Cys427Phe) | |
| 8 | g.54625142C>A | CA370989743 | RP1 | c.1260C>A (p.Cys420Ter) c.787+2854C>A (n.787+2854C>A) c.1281C>A (p.Cys427Ter) | gnomAD v4 |
| 8 | g.54625142C>G | CA370989745 | RP1 | c.1260C>G (p.Cys420Trp) c.787+2854C>G (n.787+2854C>G) c.1281C>G (p.Cys427Trp) | |
| 8 | g.54625142C>T | CA461098356 | RP1 | c.1260C>T (p.Cys420=) c.787+2854C>T (n.787+2854C>T) c.1281C>T (p.Cys427=) | gnomAD v4 |
| 8 | g.54625143A= | CA1785187755 | RP1 | c.1261A= (p.Ser421=) c.787+2855A= (n.787+2855A=) c.1282A= (p.Ser428=) | |
| 8 | g.54625143A>C | CA370989746 | RP1 | c.1261A>C (p.Ser421Arg) c.787+2855A>C (n.787+2855A>C) c.1282A>C (p.Ser428Arg) | |
| 8 | g.54625143A>G | CA370989748 | RP1 | c.1261A>G (p.Ser421Gly) c.787+2855A>G (n.787+2855A>G) c.1282A>G (p.Ser428Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625143A>T | CA370989749 | RP1 | c.1261A>T (p.Ser421Cys) c.787+2855A>T (n.787+2855A>T) c.1282A>T (p.Ser428Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625144G>A | CA370989752 | RP1 | c.1262G>A (p.Ser421Asn) c.787+2856G>A (n.787+2856G>A) c.1283G>A (p.Ser428Asn) | |
| 8 | g.54625144G>C | CA177236672 | RP1 | c.1262G>C (p.Ser421Thr) c.787+2856G>C (n.787+2856G>C) c.1283G>C (p.Ser428Thr) | dbSNP gnomAD v4 |
| 8 | g.54625144G= | CA1785187756 | RP1 | c.1262G= (p.Ser421=) c.787+2856G= (n.787+2856G=) c.1283G= (p.Ser428=) | |
| 8 | g.54625144G>T | CA4751341 | RP1 | c.1262G>T (p.Ser421Ile) c.787+2856G>T (n.787+2856G>T) c.1283G>T (p.Ser428Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625145T>A | CA370989754 | RP1 | c.1263T>A (p.Ser421Arg) c.787+2857T>A (n.787+2857T>A) c.1284T>A (p.Ser428Arg) | |
| 8 | g.54625145T>C | CA461098360 | RP1 | c.1263T>C (p.Ser421=) c.787+2857T>C (n.787+2857T>C) c.1284T>C (p.Ser428=) | |
| 8 | g.54625145T>G | CA370989756 | RP1 | c.1263T>G (p.Ser421Arg) c.787+2857T>G (n.787+2857T>G) c.1284T>G (p.Ser428Arg) | |
| 8 | g.54625146T>A | CA370989758 | RP1 | c.1264T>A (p.Ser422Thr) c.787+2858T>A (n.787+2858T>A) c.1285T>A (p.Ser429Thr) | |
| 8 | g.54625146T>C | CA370989761 | RP1 | c.1264T>C (p.Ser422Pro) c.787+2858T>C (n.787+2858T>C) c.1285T>C (p.Ser429Pro) | |
| 8 | g.54625146T>G | CA370989762 | RP1 | c.1264T>G (p.Ser422Ala) c.787+2858T>G (n.787+2858T>G) c.1285T>G (p.Ser429Ala) | |
| 8 | g.54625146T= | CA1785187757 | RP1 | c.1264T= (p.Ser422=) c.787+2858T= (n.787+2858T=) c.1285T= (p.Ser429=) | |
| 8 | g.54625147C>A | CA370989764 | RP1 | c.1265C>A (p.Ser422Tyr) c.787+2859C>A (n.787+2859C>A) c.1286C>A (p.Ser429Tyr) | dbSNP gnomAD v4 |
| 8 | g.54625147C= | CA1785187758 | RP1 | c.1265C= (p.Ser422=) c.787+2859C= (n.787+2859C=) c.1286C= (p.Ser429=) | |
| 8 | g.54625147C>G | CA370989765 | RP1 | c.1265C>G (p.Ser422Cys) c.787+2859C>G (n.787+2859C>G) c.1286C>G (p.Ser429Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625147C>T | CA370989763 | RP1 | c.1265C>T (p.Ser422Phe) c.787+2859C>T (n.787+2859C>T) c.1286C>T (p.Ser429Phe) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625147dup | CA4751342 | RP1 | c.1265dup (p.Ala423CysfsTer2) c.787+2859dup (n.787+2859dup) c.1286dup (p.Ala430CysfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625148T>A | CA461098370 | RP1 | c.1266T>A (p.Ser422=) c.787+2860T>A (n.787+2860T>A) c.1287T>A (p.Ser429=) | |
| 8 | g.54625148T>C | CA461098367 | RP1 | c.1266T>C (p.Ser422=) c.787+2860T>C (n.787+2860T>C) c.1287T>C (p.Ser429=) | |
| 8 | g.54625148T>G | CA461098365 | RP1 | c.1266T>G (p.Ser422=) c.787+2860T>G (n.787+2860T>G) c.1287T>G (p.Ser429=) | |
| 8 | g.54625148_54625538delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT | CA1785187759 | RP1 | c.1266_1656delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser422=) c.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (n.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT) c.1287_1677delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser429=) | |
| 8 | g.54625149G>A | CA370989768 | RP1 | c.1267G>A (p.Ala423Thr) c.787+2861G>A (n.787+2861G>A) c.1288G>A (p.Ala430Thr) | dbSNP gnomAD v4 |
| 8 | g.54625149G>C | CA370989766 | RP1 | c.1267G>C (p.Ala423Pro) c.787+2861G>C (n.787+2861G>C) c.1288G>C (p.Ala430Pro) | |
| 8 | g.54625149G= | CA1785187760 | RP1 | c.1267G= (p.Ala423=) c.787+2861G= (n.787+2861G=) c.1288G= (p.Ala430=) | |
| 8 | g.54625149G>T | CA370989767 | RP1 | c.1267G>T (p.Ala423Ser) c.787+2861G>T (n.787+2861G>T) c.1288G>T (p.Ala430Ser) | |
| 8 | g.54625149_54625538delinsA | CA658821501 | RP1 | c.1267_1656delinsA (p.Ala423AsnfsTer11) c.787+2861_787+3250delinsA (n.787+2861_787+3250delinsA) c.1288_1677delinsA (p.Ala430AsnfsTer11) | ClinVar dbSNP |
| 8 | g.54625150C>A | CA370989769 | RP1 | c.1268C>A (p.Ala423Asp) c.787+2862C>A (n.787+2862C>A) c.1289C>A (p.Ala430Asp) | |
| 8 | g.54625150C= | CA1785187761 | RP1 | c.1268C= (p.Ala423=) c.787+2862C= (n.787+2862C=) c.1289C= (p.Ala430=) | |
| 8 | g.54625150C>G | CA370989770 | RP1 | c.1268C>G (p.Ala423Gly) c.787+2862C>G (n.787+2862C>G) c.1289C>G (p.Ala430Gly) | dbSNP |
| 8 | g.54625150C>T | CA4751343 | RP1 | c.1268C>T (p.Ala423Val) c.787+2862C>T (n.787+2862C>T) c.1289C>T (p.Ala430Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625150_54625151insAT | CA2780386991 | RP1 | c.1268_1269insAT (p.Ser424LeufsTer?) c.787+2862_787+2863insAT (n.787+2862_787+2863insAT) c.1289_1290insAT (p.Ser431LeufsTer?) | |
| 8 | g.54625151T>A | CA461098373 | RP1 | c.1269T>A (p.Ala423=) c.787+2863T>A (n.787+2863T>A) c.1290T>A (p.Ala430=) | ClinVar dbSNP |
| 8 | g.54625151T>C | CA461098374 | RP1 | c.1269T>C (p.Ala423=) c.787+2863T>C (n.787+2863T>C) c.1290T>C (p.Ala430=) | |
| 8 | g.54625151T>G | CA461098375 | RP1 | c.1269T>G (p.Ala423=) c.787+2863T>G (n.787+2863T>G) c.1290T>G (p.Ala430=) | |
| 8 | g.54625152A>C | CA370989772 | RP1 | c.1270A>C (p.Ser424Arg) c.787+2864A>C (n.787+2864A>C) c.1291A>C (p.Ser431Arg) | |
| 8 | g.54625152A>G | CA370989773 | RP1 | c.1270A>G (p.Ser424Gly) c.787+2864A>G (n.787+2864A>G) c.1291A>G (p.Ser431Gly) | |
| 8 | g.54625152A>T | CA370989774 | RP1 | c.1270A>T (p.Ser424Cys) c.787+2864A>T (n.787+2864A>T) c.1291A>T (p.Ser431Cys) | |
| 8 | g.54625153G>A | CA370989776 | RP1 | c.1271G>A (p.Ser424Asn) c.787+2865G>A (n.787+2865G>A) c.1292G>A (p.Ser431Asn) | |
| 8 | g.54625153G>C | CA370989778 | RP1 | c.1271G>C (p.Ser424Thr) c.787+2865G>C (n.787+2865G>C) c.1292G>C (p.Ser431Thr) | |
| 8 | g.54625153G>T | CA370989779 | RP1 | c.1271G>T (p.Ser424Ile) c.787+2865G>T (n.787+2865G>T) c.1292G>T (p.Ser431Ile) | |
| 8 | g.54625154T>A | CA370989783 | RP1 | c.1272T>A (p.Ser424Arg) c.787+2866T>A (n.787+2866T>A) c.1293T>A (p.Ser431Arg) | |
| 8 | g.54625154T>C | CA4751344 | RP1 | c.1272T>C (p.Ser424=) c.787+2866T>C (n.787+2866T>C) c.1293T>C (p.Ser431=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625154T>G | CA370989781 | RP1 | c.1272T>G (p.Ser424Arg) c.787+2866T>G (n.787+2866T>G) c.1293T>G (p.Ser431Arg) | |
| 8 | g.54625154T= | CA1785187762 | RP1 | c.1272T= (p.Ser424=) c.787+2866T= (n.787+2866T=) c.1293T= (p.Ser431=) | |
| 8 | g.54625155T>A | CA370989785 | RP1 | c.1273T>A (p.Trp425Arg) c.787+2867T>A (n.787+2867T>A) c.1294T>A (p.Trp432Arg) | |
| 8 | g.54625155T>C | CA370989786 | RP1 | c.1273T>C (p.Trp425Arg) c.787+2867T>C (n.787+2867T>C) c.1294T>C (p.Trp432Arg) | ClinVar |
| 8 | g.54625155T>G | CA370989788 | RP1 | c.1273T>G (p.Trp425Gly) c.787+2867T>G (n.787+2867T>G) c.1294T>G (p.Trp432Gly) | |
| 8 | g.54625156_54625183del | CA2573143216 | RP1 | c.1274_1301del (p.Trp425SerfsTer21) c.787+2868_787+2895del (n.787+2868_787+2895del) c.1295_1322del (p.Trp432SerfsTer21) | ClinVar dbSNP |
| 8 | g.54625156G>A | CA370989790 | RP1 | c.1274G>A (p.Trp425Ter) c.787+2868G>A (n.787+2868G>A) c.1295G>A (p.Trp432Ter) | |
| 8 | g.54625156G>C | CA370989791 | RP1 | c.1274G>C (p.Trp425Ser) c.787+2868G>C (n.787+2868G>C) c.1295G>C (p.Trp432Ser) | |
| 8 | g.54625156G>T | CA370989793 | RP1 | c.1274G>T (p.Trp425Leu) c.787+2868G>T (n.787+2868G>T) c.1295G>T (p.Trp432Leu) | COSMIC |
| 8 | g.54625157G>A | CA370989794 | RP1 | c.1275G>A (p.Trp425Ter) c.787+2869G>A (n.787+2869G>A) c.1296G>A (p.Trp432Ter) | |
| 8 | g.54625157G>C | CA370989796 | RP1 | c.1275G>C (p.Trp425Cys) c.787+2869G>C (n.787+2869G>C) c.1296G>C (p.Trp432Cys) | |
| 8 | g.54625157G>T | CA370989798 | RP1 | c.1275G>T (p.Trp425Cys) c.787+2869G>T (n.787+2869G>T) c.1296G>T (p.Trp432Cys) | |
| 8 | g.54625158G>A | CA370989799 | RP1 | c.1276G>A (p.Glu426Lys) c.787+2870G>A (n.787+2870G>A) c.1297G>A (p.Glu433Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625158G>C | CA370989800 | RP1 | c.1276G>C (p.Glu426Gln) c.787+2870G>C (n.787+2870G>C) c.1297G>C (p.Glu433Gln) | |
| 8 | g.54625158G= | CA1785187763 | RP1 | c.1276G= (p.Glu426=) c.787+2870G= (n.787+2870G=) c.1297G= (p.Glu433=) | |
| 8 | g.54625158G>T | CA370989802 | RP1 | c.1276G>T (p.Glu426Ter) c.787+2870G>T (n.787+2870G>T) c.1297G>T (p.Glu433Ter) | |
| 8 | g.54625159A>C | CA370989806 | RP1 | c.1277A>C (p.Glu426Ala) c.787+2871A>C (n.787+2871A>C) c.1298A>C (p.Glu433Ala) | |
| 8 | g.54625159A>G | CA370989807 | RP1 | c.1277A>G (p.Glu426Gly) c.787+2871A>G (n.787+2871A>G) c.1298A>G (p.Glu433Gly) | |
| 8 | g.54625159A>T | CA370989804 | RP1 | c.1277A>T (p.Glu426Val) c.787+2871A>T (n.787+2871A>T) c.1298A>T (p.Glu433Val) | |
| 8 | g.54625160G>A | CA4751345 | RP1 | c.1278G>A (p.Glu426=) c.787+2872G>A (n.787+2872G>A) c.1299G>A (p.Glu433=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.54625160G>C | CA370989809 | RP1 | c.1278G>C (p.Glu426Asp) c.787+2872G>C (n.787+2872G>C) c.1299G>C (p.Glu433Asp) | |
| 8 | g.54625160G= | CA1785187764 | RP1 | c.1278G= (p.Glu426=) c.787+2872G= (n.787+2872G=) c.1299G= (p.Glu433=) | |
| 8 | g.54625160G>T | CA370989811 | RP1 | c.1278G>T (p.Glu426Asp) c.787+2872G>T (n.787+2872G>T) c.1299G>T (p.Glu433Asp) | |
| 8 | g.54625161A>C | CA370989813 | RP1 | c.1279A>C (p.Asn427His) c.787+2873A>C (n.787+2873A>C) c.1300A>C (p.Asn434His) | |
| 8 | g.54625161A>G | CA370989814 | RP1 | c.1279A>G (p.Asn427Asp) c.787+2873A>G (n.787+2873A>G) c.1300A>G (p.Asn434Asp) | |
| 8 | g.54625161A>T | CA370989816 | RP1 | c.1279A>T (p.Asn427Tyr) c.787+2873A>T (n.787+2873A>T) c.1300A>T (p.Asn434Tyr) | |
| 8 | g.54625162A= | CA1785187765 | RP1 | c.1280A= (p.Asn427=) c.787+2874A= (n.787+2874A=) c.1301A= (p.Asn434=) | |
| 8 | g.54625162A>C | CA370989821 | RP1 | c.1280A>C (p.Asn427Thr) c.787+2874A>C (n.787+2874A>C) c.1301A>C (p.Asn434Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625162A>G | CA370989818 | RP1 | c.1280A>G (p.Asn427Ser) c.787+2874A>G (n.787+2874A>G) c.1301A>G (p.Asn434Ser) | gnomAD v4 |
| 8 | g.54625162A>T | CA370989819 | RP1 | c.1280A>T (p.Asn427Ile) c.787+2874A>T (n.787+2874A>T) c.1301A>T (p.Asn434Ile) | |
| 8 | g.54625163T>A | CA370989822 | RP1 | c.1281T>A (p.Asn427Lys) c.787+2875T>A (n.787+2875T>A) c.1302T>A (p.Asn434Lys) | |
| 8 | g.54625163T>C | CA461098391 | RP1 | c.1281T>C (p.Asn427=) c.787+2875T>C (n.787+2875T>C) c.1302T>C (p.Asn434=) | gnomAD v4 |
| 8 | g.54625163T>G | CA370989823 | RP1 | c.1281T>G (p.Asn427Lys) c.787+2875T>G (n.787+2875T>G) c.1302T>G (p.Asn434Lys) | |
| 8 | g.54625164G>A | CA370989825 | RP1 | c.1282G>A (p.Ala428Thr) c.787+2876G>A (n.787+2876G>A) c.1303G>A (p.Ala435Thr) | |
| 8 | g.54625164G>C | CA370989827 | RP1 | c.1282G>C (p.Ala428Pro) c.787+2876G>C (n.787+2876G>C) c.1303G>C (p.Ala435Pro) | |
| 8 | g.54625164G>T | CA370989828 | RP1 | c.1282G>T (p.Ala428Ser) c.787+2876G>T (n.787+2876G>T) c.1303G>T (p.Ala435Ser) | |
| 8 | g.54625165C>A | CA370989830 | RP1 | c.1283C>A (p.Ala428Asp) c.787+2877C>A (n.787+2877C>A) c.1304C>A (p.Ala435Asp) | |
| 8 | g.54625165C= | CA1785187766 | RP1 | c.1283C= (p.Ala428=) c.787+2877C= (n.787+2877C=) c.1304C= (p.Ala435=) | |
| 8 | g.54625165C>G | CA4751346 | RP1 | c.1283C>G (p.Ala428Gly) c.787+2877C>G (n.787+2877C>G) c.1304C>G (p.Ala435Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625165C>T | CA370989831 | RP1 | c.1283C>T (p.Ala428Val) c.787+2877C>T (n.787+2877C>T) c.1304C>T (p.Ala435Val) | COSMIC |
| 8 | g.54625166T>A | CA461098396 | RP1 | c.1284T>A (p.Ala428=) c.787+2878T>A (n.787+2878T>A) c.1305T>A (p.Ala435=) | |
| 8 | g.54625166T>C | CA4751347 | RP1 | c.1284T>C (p.Ala428=) c.787+2878T>C (n.787+2878T>C) c.1305T>C (p.Ala435=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625166T>G | CA461098397 | RP1 | c.1284T>G (p.Ala428=) c.787+2878T>G (n.787+2878T>G) c.1305T>G (p.Ala435=) | |
| 8 | g.54625166T= | CA1785187767 | RP1 | c.1284T= (p.Ala428=) c.787+2878T= (n.787+2878T=) c.1305T= (p.Ala435=) | |
| 8 | g.54625167A= | CA1785187768 | RP1 | c.1285A= (p.Thr429=) c.787+2879A= (n.787+2879A=) c.1306A= (p.Thr436=) | |
| 8 | g.54625167A>C | CA370989834 | RP1 | c.1285A>C (p.Thr429Pro) c.787+2879A>C (n.787+2879A>C) c.1306A>C (p.Thr436Pro) | |
| 8 | g.54625167A>G | CA370989836 | RP1 | c.1285A>G (p.Thr429Ala) c.787+2879A>G (n.787+2879A>G) c.1306A>G (p.Thr436Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625167A>T | CA370989837 | RP1 | c.1285A>T (p.Thr429Ser) c.787+2879A>T (n.787+2879A>T) c.1306A>T (p.Thr436Ser) | |
| 8 | g.54625168C>A | CA370989839 | RP1 | c.1286C>A (p.Thr429Asn) c.787+2880C>A (n.787+2880C>A) c.1307C>A (p.Thr436Asn) | |
| 8 | g.54625168C>G | CA370989841 | RP1 | c.1286C>G (p.Thr429Ser) c.787+2880C>G (n.787+2880C>G) c.1307C>G (p.Thr436Ser) | |
| 8 | g.54625168C>T | CA370989842 | RP1 | c.1286C>T (p.Thr429Ile) c.787+2880C>T (n.787+2880C>T) c.1307C>T (p.Thr436Ile) | |
| 8 | g.54625169T>A | CA461098400 | RP1 | c.1287T>A (p.Thr429=) c.787+2881T>A (n.787+2881T>A) c.1308T>A (p.Thr436=) | |
| 8 | g.54625169T>C | CA461098402 | RP1 | c.1287T>C (p.Thr429=) c.787+2881T>C (n.787+2881T>C) c.1308T>C (p.Thr436=) | |
| 8 | g.54625169T>G | CA461098403 | RP1 | c.1287T>G (p.Thr429=) c.787+2881T>G (n.787+2881T>G) c.1308T>G (p.Thr436=) | |
| 8 | g.54625170G>A | CA370989843 | RP1 | c.1288G>A (p.Val430Met) c.787+2882G>A (n.787+2882G>A) c.1309G>A (p.Val437Met) | |
| 8 | g.54625170G>C | CA370989845 | RP1 | c.1288G>C (p.Val430Leu) c.787+2882G>C (n.787+2882G>C) c.1309G>C (p.Val437Leu) | |
| 8 | g.54625170G>T | CA370989847 | RP1 | c.1288G>T (p.Val430Leu) c.787+2882G>T (n.787+2882G>T) c.1309G>T (p.Val437Leu) | |
| 8 | g.54625171T>A | CA370989849 | RP1 | c.1289T>A (p.Val430Glu) c.787+2883T>A (n.787+2883T>A) c.1310T>A (p.Val437Glu) | |
| 8 | g.54625171T>C | CA370989850 | RP1 | c.1289T>C (p.Val430Ala) c.787+2883T>C (n.787+2883T>C) c.1310T>C (p.Val437Ala) | |
| 8 | g.54625171T>G | CA370989851 | RP1 | c.1289T>G (p.Val430Gly) c.787+2883T>G (n.787+2883T>G) c.1310T>G (p.Val437Gly) | gnomAD v4 |
| 8 | g.54625172G>A | CA4751348 | RP1 | c.1290G>A (p.Val430=) c.787+2884G>A (n.787+2884G>A) c.1311G>A (p.Val437=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625172G>C | CA461098408 | RP1 | c.1290G>C (p.Val430=) c.787+2884G>C (n.787+2884G>C) c.1311G>C (p.Val437=) | |
| 8 | g.54625172G= | CA1785187769 | RP1 | c.1290G= (p.Val430=) c.787+2884G= (n.787+2884G=) c.1311G= (p.Val437=) | |
| 8 | g.54625172G>T | CA461098409 | RP1 | c.1290G>T (p.Val430=) c.787+2884G>T (n.787+2884G>T) c.1311G>T (p.Val437=) | gnomAD v4 |
| 8 | g.54625173G>A | CA370989855 | RP1 | c.1291G>A (p.Asp431Asn) c.787+2885G>A (n.787+2885G>A) c.1312G>A (p.Asp438Asn) | |
| 8 | g.54625173G>C | CA370989854 | RP1 | c.1291G>C (p.Asp431His) c.787+2885G>C (n.787+2885G>C) c.1312G>C (p.Asp438His) | |
| 8 | g.54625173G>T | CA370989857 | RP1 | c.1291G>T (p.Asp431Tyr) c.787+2885G>T (n.787+2885G>T) c.1312G>T (p.Asp438Tyr) | |
| 8 | g.54625173_54625175delinsGAC | CA1785187770 | RP1 | c.1291_1293delinsGAC (p.Asp431=) c.787+2885_787+2887delinsGAC (n.787+2885_787+2887delinsGAC) c.1312_1314delinsGAC (p.Asp438=) | |
| 8 | g.54625174A>C | CA370989858 | RP1 | c.1292A>C (p.Asp431Ala) c.787+2886A>C (n.787+2886A>C) c.1313A>C (p.Asp438Ala) | |
| 8 | g.54625174A>G | CA370989860 | RP1 | c.1292A>G (p.Asp431Gly) c.787+2886A>G (n.787+2886A>G) c.1313A>G (p.Asp438Gly) | |
| 8 | g.54625174A>T | CA370989859 | RP1 | c.1292A>T (p.Asp431Val) c.787+2886A>T (n.787+2886A>T) c.1313A>T (p.Asp438Val) | |
| 8 | g.54625177_54625178del | CA177236682 | RP1 | c.1295_1296del (p.Thr432ArgfsTer16) c.787+2889_787+2890del (n.787+2889_787+2890del) c.1316_1317del (p.Thr439ArgfsTer16) | dbSNP |
| 8 | g.54625175C>A | CA370989862 | RP1 | c.1293C>A (p.Asp431Glu) c.787+2887C>A (n.787+2887C>A) c.1314C>A (p.Asp438Glu) | |
| 8 | g.54625175C>G | CA370989863 | RP1 | c.1293C>G (p.Asp431Glu) c.787+2887C>G (n.787+2887C>G) c.1314C>G (p.Asp438Glu) | |
| 8 | g.54625175C>T | CA461098414 | RP1 | c.1293C>T (p.Asp431=) c.787+2887C>T (n.787+2887C>T) c.1314C>T (p.Asp438=) | |
| 8 | g.54625176A= | CA1785187771 | RP1 | c.1294A= (p.Thr432=) c.787+2888A= (n.787+2888A=) c.1315A= (p.Thr439=) | |
| 8 | g.54625176A>C | CA370989865 | RP1 | c.1294A>C (p.Thr432Pro) c.787+2888A>C (n.787+2888A>C) c.1315A>C (p.Thr439Pro) | |
| 8 | g.54625176A>G | CA4751349 | RP1 | c.1294A>G (p.Thr432Ala) c.787+2888A>G (n.787+2888A>G) c.1315A>G (p.Thr439Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625176A>T | CA370989868 | RP1 | c.1294A>T (p.Thr432Ser) c.787+2888A>T (n.787+2888A>T) c.1315A>T (p.Thr439Ser) | |
| 8 | g.54625177C>A | CA370989869 | RP1 | c.1295C>A (p.Thr432Lys) c.787+2889C>A (n.787+2889C>A) c.1316C>A (p.Thr439Lys) | |
| 8 | g.54625177C>G | CA370989871 | RP1 | c.1295C>G (p.Thr432Arg) c.787+2889C>G (n.787+2889C>G) c.1316C>G (p.Thr439Arg) | |
| 8 | g.54625177C>T | CA370989872 | RP1 | c.1295C>T (p.Thr432Ile) c.787+2889C>T (n.787+2889C>T) c.1316C>T (p.Thr439Ile) |