Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54625068C>A | CA461098004 | RP1 | c.1186C>A (p.Arg396=) c.787+2780C>A (n.787+2780C>A) c.1207C>A (p.Arg403=) | |
8 | g.54625068C= | CA1785187731 | RP1 | c.1186C= (p.Arg396=) c.787+2780C= (n.787+2780C=) c.1207C= (p.Arg403=) | |
8 | g.54625068C>G | CA370989468 | RP1 | c.1186C>G (p.Arg396Gly) c.787+2780C>G (n.787+2780C>G) c.1207C>G (p.Arg403Gly) | |
8 | g.54625068C>T | CA270091 | RP1 | c.1186C>T (p.Arg396Ter) c.787+2780C>T (n.787+2780C>T) c.1207C>T (p.Arg403Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625069G>A | CA4751333 | RP1 | c.1187G>A (p.Arg396Gln) c.787+2781G>A (n.787+2781G>A) c.1208G>A (p.Arg403Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.54625069G>C | CA370989469 | RP1 | c.1187G>C (p.Arg396Pro) c.787+2781G>C (n.787+2781G>C) c.1208G>C (p.Arg403Pro) | |
8 | g.54625069G= | CA1785187732 | RP1 | c.1187G= (p.Arg396=) c.787+2781G= (n.787+2781G=) c.1208G= (p.Arg403=) | |
8 | g.54625069G>T | CA370989470 | RP1 | c.1187G>T (p.Arg396Leu) c.787+2781G>T (n.787+2781G>T) c.1208G>T (p.Arg403Leu) | |
8 | g.54625070A>C | CA461098009 | RP1 | c.1188A>C (p.Arg396=) c.787+2782A>C (n.787+2782A>C) c.1209A>C (p.Arg403=) | |
8 | g.54625070A>G | CA461098012 | RP1 | c.1188A>G (p.Arg396=) c.787+2782A>G (n.787+2782A>G) c.1209A>G (p.Arg403=) | |
8 | g.54625070A>T | CA461098014 | RP1 | c.1188A>T (p.Arg396=) c.787+2782A>T (n.787+2782A>T) c.1209A>T (p.Arg403=) | |
8 | g.54625071A>C | CA370989472 | RP1 | c.1189A>C (p.Ser397Arg) c.787+2783A>C (n.787+2783A>C) c.1210A>C (p.Ser404Arg) | |
8 | g.54625071A>G | CA370989473 | RP1 | c.1189A>G (p.Ser397Gly) c.787+2783A>G (n.787+2783A>G) c.1210A>G (p.Ser404Gly) | |
8 | g.54625071A>T | CA370989471 | RP1 | c.1189A>T (p.Ser397Cys) c.787+2783A>T (n.787+2783A>T) c.1210A>T (p.Ser404Cys) | |
8 | g.54625072G>A | CA370989475 | RP1 | c.1190G>A (p.Ser397Asn) c.787+2784G>A (n.787+2784G>A) c.1211G>A (p.Ser404Asn) | dbSNP gnomAD v4 |
8 | g.54625072G>C | CA370989474 | RP1 | c.1190G>C (p.Ser397Thr) c.787+2784G>C (n.787+2784G>C) c.1211G>C (p.Ser404Thr) | |
8 | g.54625072G>T | CA370989476 | RP1 | c.1190G>T (p.Ser397Ile) c.787+2784G>T (n.787+2784G>T) c.1211G>T (p.Ser404Ile) | COSMIC |
8 | g.54625073C>A | CA370989477 | RP1 | c.1191C>A (p.Ser397Arg) c.787+2785C>A (n.787+2785C>A) c.1212C>A (p.Ser404Arg) | |
8 | g.54625073C>G | CA370989478 | RP1 | c.1191C>G (p.Ser397Arg) c.787+2785C>G (n.787+2785C>G) c.1212C>G (p.Ser404Arg) | |
8 | g.54625073C>T | CA461098019 | RP1 | c.1191C>T (p.Ser397=) c.787+2785C>T (n.787+2785C>T) c.1212C>T (p.Ser404=) | |
8 | g.54625074A= | CA1785187733 | RP1 | c.1192A= (p.Ser398=) c.787+2786A= (n.787+2786A=) c.1213A= (p.Ser405=) | |
8 | g.54625074A>C | CA370989479 | RP1 | c.1192A>C (p.Ser398Arg) c.787+2786A>C (n.787+2786A>C) c.1213A>C (p.Ser405Arg) | |
8 | g.54625074A>G | CA4751334 | RP1 | c.1192A>G (p.Ser398Gly) c.787+2786A>G (n.787+2786A>G) c.1213A>G (p.Ser405Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625074A>T | CA370989480 | RP1 | c.1192A>T (p.Ser398Cys) c.787+2786A>T (n.787+2786A>T) c.1213A>T (p.Ser405Cys) | |
8 | g.54625075G>A | CA4751335 | RP1 | c.1193G>A (p.Ser398Asn) c.787+2787G>A (n.787+2787G>A) c.1214G>A (p.Ser405Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625075G>C | CA370989481 | RP1 | c.1193G>C (p.Ser398Thr) c.787+2787G>C (n.787+2787G>C) c.1214G>C (p.Ser405Thr) | |
8 | g.54625075G= | CA1785187734 | RP1 | c.1193G= (p.Ser398=) c.787+2787G= (n.787+2787G=) c.1214G= (p.Ser405=) | |
8 | g.54625075G>T | CA370989482 | RP1 | c.1193G>T (p.Ser398Ile) c.787+2787G>T (n.787+2787G>T) c.1214G>T (p.Ser405Ile) | |
8 | g.54625076T>A | CA370989483 | RP1 | c.1194T>A (p.Ser398Arg) c.787+2788T>A (n.787+2788T>A) c.1215T>A (p.Ser405Arg) | |
8 | g.54625076T>C | CA461098032 | RP1 | c.1194T>C (p.Ser398=) c.787+2788T>C (n.787+2788T>C) c.1215T>C (p.Ser405=) | |
8 | g.54625076T>G | CA370989484 | RP1 | c.1194T>G (p.Ser398Arg) c.787+2788T>G (n.787+2788T>G) c.1215T>G (p.Ser405Arg) | |
8 | g.54625077A>C | CA370989485 | RP1 | c.1195A>C (p.Asn399His) c.787+2789A>C (n.787+2789A>C) c.1216A>C (p.Asn406His) | |
8 | g.54625077A>G | CA370989486 | RP1 | c.1195A>G (p.Asn399Asp) c.787+2789A>G (n.787+2789A>G) c.1216A>G (p.Asn406Asp) | |
8 | g.54625077A>T | CA370989487 | RP1 | c.1195A>T (p.Asn399Tyr) c.787+2789A>T (n.787+2789A>T) c.1216A>T (p.Asn406Tyr) | |
8 | g.54625078A>C | CA370989488 | RP1 | c.1196A>C (p.Asn399Thr) c.787+2790A>C (n.787+2790A>C) c.1217A>C (p.Asn406Thr) | |
8 | g.54625078A>G | CA370989489 | RP1 | c.1196A>G (p.Asn399Ser) c.787+2790A>G (n.787+2790A>G) c.1217A>G (p.Asn406Ser) | |
8 | g.54625078A>T | CA370989490 | RP1 | c.1196A>T (p.Asn399Ile) c.787+2790A>T (n.787+2790A>T) c.1217A>T (p.Asn406Ile) | |
8 | g.54625078_54625079delinsAT | CA1785187735 | RP1 | c.1196_1197delinsAT (p.Asn399=) c.787+2790_787+2791delinsAT (n.787+2790_787+2791delinsAT) c.1217_1218delinsAT (p.Asn406=) | |
8 | g.54625079del | CA1114023539 | RP1 | c.1197del (p.Gln400LysfsTer9) c.787+2791del (n.787+2791del) c.1218del (p.Gln407LysfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625079T>A | CA370989492 | RP1 | c.1197T>A (p.Asn399Lys) c.787+2791T>A (n.787+2791T>A) c.1218T>A (p.Asn406Lys) | |
8 | g.54625079T>C | CA461098038 | RP1 | c.1197T>C (p.Asn399=) c.787+2791T>C (n.787+2791T>C) c.1218T>C (p.Asn406=) | gnomAD v4 |
8 | g.54625079T>G | CA370989491 | RP1 | c.1197T>G (p.Asn399Lys) c.787+2791T>G (n.787+2791T>G) c.1218T>G (p.Asn406Lys) | gnomAD v4 |
8 | g.54625080C>A | CA370989493 | RP1 | c.1198C>A (p.Gln400Lys) c.787+2792C>A (n.787+2792C>A) c.1219C>A (p.Gln407Lys) | gnomAD v4 |
8 | g.54625080C>G | CA370989494 | RP1 | c.1198C>G (p.Gln400Glu) c.787+2792C>G (n.787+2792C>G) c.1219C>G (p.Gln407Glu) | gnomAD v4 |
8 | g.54625080C>T | CA370989495 | RP1 | c.1198C>T (p.Gln400Ter) c.787+2792C>T (n.787+2792C>T) c.1219C>T (p.Gln407Ter) | COSMIC |
8 | g.54625081A>C | CA370989496 | RP1 | c.1199A>C (p.Gln400Pro) c.787+2793A>C (n.787+2793A>C) c.1220A>C (p.Gln407Pro) | |
8 | g.54625081A>G | CA370989497 | RP1 | c.1199A>G (p.Gln400Arg) c.787+2793A>G (n.787+2793A>G) c.1220A>G (p.Gln407Arg) | |
8 | g.54625081A>T | CA370989498 | RP1 | c.1199A>T (p.Gln400Leu) c.787+2793A>T (n.787+2793A>T) c.1220A>T (p.Gln407Leu) | |
8 | g.54625081_54625082del | CA2580078483 | RP1 | c.1199_1200del (p.Gln400ArgfsTer18) c.787+2793_787+2794del (n.787+2793_787+2794del) c.1220_1221del (p.Gln407ArgfsTer18) | ClinVar |
8 | g.54625082A>C | CA370989499 | RP1 | c.1200A>C (p.Gln400His) c.787+2794A>C (n.787+2794A>C) c.1221A>C (p.Gln407His) |