| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54628077_54628078delinsTG | CA1785189023 | RP1 | c.4195_4196delinsTG (p.Cys1399=) c.787+5789_787+5790delinsTG (n.787+5789_787+5790delinsTG) c.4216_4217delinsTG (p.Cys1406=) | |
| 8 | g.54628078del | CA4751816 | RP1 | c.4196del (p.Cys1399LeufsTer5) c.787+5790del (n.787+5790del) c.4217del (p.Cys1406LeufsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628078G>A | CA370981611 | RP1 | c.4196G>A (p.Cys1399Tyr) c.787+5790G>A (n.787+5790G>A) c.4217G>A (p.Cys1406Tyr) | |
| 8 | g.54628078G>C | CA370981614 | RP1 | c.4196G>C (p.Cys1399Ser) c.787+5790G>C (n.787+5790G>C) c.4217G>C (p.Cys1406Ser) | |
| 8 | g.54628078G>T | CA370981616 | RP1 | c.4196G>T (p.Cys1399Phe) c.787+5790G>T (n.787+5790G>T) c.4217G>T (p.Cys1406Phe) | |
| 8 | g.54628079T>A | CA370981621 | RP1 | c.4197T>A (p.Cys1399Ter) c.787+5791T>A (n.787+5791T>A) c.4218T>A (p.Cys1406Ter) | |
| 8 | g.54628079T>C | CA461099829 | RP1 | c.4197T>C (p.Cys1399=) c.787+5791T>C (n.787+5791T>C) c.4218T>C (p.Cys1406=) | |
| 8 | g.54628079T>G | CA370981623 | RP1 | c.4197T>G (p.Cys1399Trp) c.787+5791T>G (n.787+5791T>G) c.4218T>G (p.Cys1406Trp) | |
| 8 | g.54628080G>A | CA370981627 | RP1 | c.4198G>A (p.Gly1400Ser) c.787+5792G>A (n.787+5792G>A) c.4219G>A (p.Gly1407Ser) | |
| 8 | g.54628080G>C | CA370981630 | RP1 | c.4198G>C (p.Gly1400Arg) c.787+5792G>C (n.787+5792G>C) c.4219G>C (p.Gly1407Arg) | |
| 8 | g.54628080G>T | CA370981628 | RP1 | c.4198G>T (p.Gly1400Cys) c.787+5792G>T (n.787+5792G>T) c.4219G>T (p.Gly1407Cys) | |
| 8 | g.54628081G>A | CA4751817 | RP1 | c.4199G>A (p.Gly1400Asp) c.787+5793G>A (n.787+5793G>A) c.4220G>A (p.Gly1407Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628081G>C | CA370981638 | RP1 | c.4199G>C (p.Gly1400Ala) c.787+5793G>C (n.787+5793G>C) c.4220G>C (p.Gly1407Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628081G= | CA1785189024 | RP1 | c.4199G= (p.Gly1400=) c.787+5793G= (n.787+5793G=) c.4220G= (p.Gly1407=) | |
| 8 | g.54628081G>T | CA370981635 | RP1 | c.4199G>T (p.Gly1400Val) c.787+5793G>T (n.787+5793G>T) c.4220G>T (p.Gly1407Val) | |
| 8 | g.54628082C>A | CA461099834 | RP1 | c.4200C>A (p.Gly1400=) c.787+5794C>A (n.787+5794C>A) c.4221C>A (p.Gly1407=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628082C= | CA1785189025 | RP1 | c.4200C= (p.Gly1400=) c.787+5794C= (n.787+5794C=) c.4221C= (p.Gly1407=) | |
| 8 | g.54628082C>G | CA461099835 | RP1 | c.4200C>G (p.Gly1400=) c.787+5794C>G (n.787+5794C>G) c.4221C>G (p.Gly1407=) | dbSNP gnomAD v4 |
| 8 | g.54628082C>T | CA4751818 | RP1 | c.4200C>T (p.Gly1400=) c.787+5794C>T (n.787+5794C>T) c.4221C>T (p.Gly1407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628083C>A | CA370981642 | RP1 | c.4201C>A (p.Leu1401Ile) c.787+5795C>A (n.787+5795C>A) c.4222C>A (p.Leu1408Ile) | gnomAD v4 COSMIC |
| 8 | g.54628083C>G | CA370981645 | RP1 | c.4201C>G (p.Leu1401Val) c.787+5795C>G (n.787+5795C>G) c.4222C>G (p.Leu1408Val) | |
| 8 | g.54628083C>T | CA370981647 | RP1 | c.4201C>T (p.Leu1401Phe) c.787+5795C>T (n.787+5795C>T) c.4222C>T (p.Leu1408Phe) | COSMIC |
| 8 | g.54628084T>A | CA370981651 | RP1 | c.4202T>A (p.Leu1401His) c.787+5796T>A (n.787+5796T>A) c.4223T>A (p.Leu1408His) | |
| 8 | g.54628084T>C | CA370981652 | RP1 | c.4202T>C (p.Leu1401Pro) c.787+5796T>C (n.787+5796T>C) c.4223T>C (p.Leu1408Pro) | |
| 8 | g.54628084T>G | CA370981655 | RP1 | c.4202T>G (p.Leu1401Arg) c.787+5796T>G (n.787+5796T>G) c.4223T>G (p.Leu1408Arg) | |
| 8 | g.54628085T>A | CA461099842 | RP1 | c.4203T>A (p.Leu1401=) c.787+5797T>A (n.787+5797T>A) c.4224T>A (p.Leu1408=) | |
| 8 | g.54628085T>C | CA461099843 | RP1 | c.4203T>C (p.Leu1401=) c.787+5797T>C (n.787+5797T>C) c.4224T>C (p.Leu1408=) | |
| 8 | g.54628085T>G | CA461099845 | RP1 | c.4203T>G (p.Leu1401=) c.787+5797T>G (n.787+5797T>G) c.4224T>G (p.Leu1408=) | |
| 8 | g.54628086T>A | CA370981658 | RP1 | c.4204T>A (p.Cys1402Ser) c.787+5798T>A (n.787+5798T>A) c.4225T>A (p.Cys1409Ser) | |
| 8 | g.54628086T>C | CA370981661 | RP1 | c.4204T>C (p.Cys1402Arg) c.787+5798T>C (n.787+5798T>C) c.4225T>C (p.Cys1409Arg) | |
| 8 | g.54628086T>G | CA370981663 | RP1 | c.4204T>G (p.Cys1402Gly) c.787+5798T>G (n.787+5798T>G) c.4225T>G (p.Cys1409Gly) | |
| 8 | g.54628087G>A | CA370981666 | RP1 | c.4205G>A (p.Cys1402Tyr) c.787+5799G>A (n.787+5799G>A) c.4226G>A (p.Cys1409Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628087G>C | CA370981669 | RP1 | c.4205G>C (p.Cys1402Ser) c.787+5799G>C (n.787+5799G>C) c.4226G>C (p.Cys1409Ser) | |
| 8 | g.54628087G= | CA1785189026 | RP1 | c.4205G= (p.Cys1402=) c.787+5799G= (n.787+5799G=) c.4226G= (p.Cys1409=) | |
| 8 | g.54628087G>T | CA4751819 | RP1 | c.4205G>T (p.Cys1402Phe) c.787+5799G>T (n.787+5799G>T) c.4226G>T (p.Cys1409Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628088C>A | CA370981674 | RP1 | c.4206C>A (p.Cys1402Ter) c.787+5800C>A (n.787+5800C>A) c.4227C>A (p.Cys1409Ter) | |
| 8 | g.54628088C>G | CA370981675 | RP1 | c.4206C>G (p.Cys1402Trp) c.787+5800C>G (n.787+5800C>G) c.4227C>G (p.Cys1409Trp) | |
| 8 | g.54628088C>T | CA461099849 | RP1 | c.4206C>T (p.Cys1402=) c.787+5800C>T (n.787+5800C>T) c.4227C>T (p.Cys1409=) | |
| 8 | g.54628089C>A | CA370981679 | RP1 | c.4207C>A (p.Leu1403Ile) c.787+5801C>A (n.787+5801C>A) c.4228C>A (p.Leu1410Ile) | |
| 8 | g.54628089C= | CA1785189027 | RP1 | c.4207C= (p.Leu1403=) c.787+5801C= (n.787+5801C=) c.4228C= (p.Leu1410=) | |
| 8 | g.54628089C>G | CA370981681 | RP1 | c.4207C>G (p.Leu1403Val) c.787+5801C>G (n.787+5801C>G) c.4228C>G (p.Leu1410Val) | |
| 8 | g.54628089C>T | CA461099852 | RP1 | c.4207C>T (p.Leu1403=) c.787+5801C>T (n.787+5801C>T) c.4228C>T (p.Leu1410=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628090T>A | CA370981684 | RP1 | c.4208T>A (p.Leu1403Gln) c.787+5802T>A (n.787+5802T>A) c.4229T>A (p.Leu1410Gln) | |
| 8 | g.54628090T>C | CA370981686 | RP1 | c.4208T>C (p.Leu1403Pro) c.787+5802T>C (n.787+5802T>C) c.4229T>C (p.Leu1410Pro) | |
| 8 | g.54628090T>G | CA370981688 | RP1 | c.4208T>G (p.Leu1403Arg) c.787+5802T>G (n.787+5802T>G) c.4229T>G (p.Leu1410Arg) | |
| 8 | g.54628091A>C | CA461099854 | RP1 | c.4209A>C (p.Leu1403=) c.787+5803A>C (n.787+5803A>C) c.4230A>C (p.Leu1410=) | |
| 8 | g.54628091A>G | CA461099855 | RP1 | c.4209A>G (p.Leu1403=) c.787+5803A>G (n.787+5803A>G) c.4230A>G (p.Leu1410=) | |
| 8 | g.54628091A>T | CA461099856 | RP1 | c.4209A>T (p.Leu1403=) c.787+5803A>T (n.787+5803A>T) c.4230A>T (p.Leu1410=) | |
| 8 | g.54628092A>C | CA370981691 | RP1 | c.4210A>C (p.Ser1404Arg) c.787+5804A>C (n.787+5804A>C) c.4231A>C (p.Ser1411Arg) | gnomAD v4 |
| 8 | g.54628092A>G | CA370981694 | RP1 | c.4210A>G (p.Ser1404Gly) c.787+5804A>G (n.787+5804A>G) c.4231A>G (p.Ser1411Gly) |