| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.54628092A>T | CA370981695 | RP1 | c.4210A>T (p.Ser1404Cys) c.787+5804A>T (n.787+5804A>T) c.4231A>T (p.Ser1411Cys) | COSMIC |
| 8 | g.54628093G>A | CA370981696 | RP1 | c.4211G>A (p.Ser1404Asn) c.787+5805G>A (n.787+5805G>A) c.4232G>A (p.Ser1411Asn) | dbSNP |
| 8 | g.54628093G>C | CA370981697 | RP1 | c.4211G>C (p.Ser1404Thr) c.787+5805G>C (n.787+5805G>C) c.4232G>C (p.Ser1411Thr) | |
| 8 | g.54628093G= | CA1785189028 | RP1 | c.4211G= (p.Ser1404=) c.787+5805G= (n.787+5805G=) c.4232G= (p.Ser1411=) | |
| 8 | g.54628093G>T | CA370981698 | RP1 | c.4211G>T (p.Ser1404Ile) c.787+5805G>T (n.787+5805G>T) c.4232G>T (p.Ser1411Ile) | |
| 8 | g.54628093_54628094delinsGT | CA1785189029 | RP1 | c.4211_4212delinsGT (p.Ser1404=) c.787+5805_787+5806delinsGT (n.787+5805_787+5806delinsGT) c.4232_4233delinsGT (p.Ser1411=) | |
| 8 | g.54628094del | CA1785189030 | RP1 | c.4212del (p.Ser1404ArgfsTer14) c.787+5806del (n.787+5806del) c.4233del (p.Ser1411ArgfsTer14) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54628094T>A | CA370981699 | RP1 | c.4212T>A (p.Ser1404Arg) c.787+5806T>A (n.787+5806T>A) c.4233T>A (p.Ser1411Arg) | |
| 8 | g.54628094T>C | CA461099858 | RP1 | c.4212T>C (p.Ser1404=) c.787+5806T>C (n.787+5806T>C) c.4233T>C (p.Ser1411=) | |
| 8 | g.54628094T>G | CA370981700 | RP1 | c.4212T>G (p.Ser1404Arg) c.787+5806T>G (n.787+5806T>G) c.4233T>G (p.Ser1411Arg) | |
| 8 | g.54628095G>A | CA177181438 | RP1 | c.4213G>A (p.Glu1405Lys) c.787+5807G>A (n.787+5807G>A) c.4234G>A (p.Glu1412Lys) | dbSNP COSMIC |
| 8 | g.54628095G>C | CA370981701 | RP1 | c.4213G>C (p.Glu1405Gln) c.787+5807G>C (n.787+5807G>C) c.4234G>C (p.Glu1412Gln) | |
| 8 | g.54628095G= | CA1785189031 | RP1 | c.4213G= (p.Glu1405=) c.787+5807G= (n.787+5807G=) c.4234G= (p.Glu1412=) | |
| 8 | g.54628095G>T | CA370981702 | RP1 | c.4213G>T (p.Glu1405Ter) c.787+5807G>T (n.787+5807G>T) c.4234G>T (p.Glu1412Ter) | gnomAD v4 COSMIC |
| 8 | g.54628096A= | CA1785189032 | RP1 | c.4214A= (p.Glu1405=) c.787+5808A= (n.787+5808A=) c.4235A= (p.Glu1412=) | |
| 8 | g.54628096A>C | CA370981703 | RP1 | c.4214A>C (p.Glu1405Ala) c.787+5808A>C (n.787+5808A>C) c.4235A>C (p.Glu1412Ala) | |
| 8 | g.54628096A>G | CA370981704 | RP1 | c.4214A>G (p.Glu1405Gly) c.787+5808A>G (n.787+5808A>G) c.4235A>G (p.Glu1412Gly) | dbSNP |
| 8 | g.54628096A>T | CA370981705 | RP1 | c.4214A>T (p.Glu1405Val) c.787+5808A>T (n.787+5808A>T) c.4235A>T (p.Glu1412Val) | |
| 8 | g.54628097A>C | CA370981706 | RP1 | c.4215A>C (p.Glu1405Asp) c.787+5809A>C (n.787+5809A>C) c.4236A>C (p.Glu1412Asp) | |
| 8 | g.54628097A>G | CA461099868 | RP1 | c.4215A>G (p.Glu1405=) c.787+5809A>G (n.787+5809A>G) c.4236A>G (p.Glu1412=) | |
| 8 | g.54628097A>T | CA370981707 | RP1 | c.4215A>T (p.Glu1405Asp) c.787+5809A>T (n.787+5809A>T) c.4236A>T (p.Glu1412Asp) | |
| 8 | g.54628097_54628101delinsAAAAG | CA1785189033 | RP1 | c.4215_4219delinsAAAAG (p.Glu1405=) c.787+5809_787+5813delinsAAAAG (n.787+5809_787+5813delinsAAAAG) c.4236_4240delinsAAAAG (p.Glu1412=) | |
| 8 | g.54628098A= | CA1785189034 | RP1 | c.4216A= (p.Lys1406=) c.787+5810A= (n.787+5810A=) c.4237A= (p.Lys1413=) | |
| 8 | g.54628098A>C | CA370981708 | RP1 | c.4216A>C (p.Lys1406Gln) c.787+5810A>C (n.787+5810A>C) c.4237A>C (p.Lys1413Gln) | dbSNP gnomAD v4 |
| 8 | g.54628098A>G | CA4751820 | RP1 | c.4216A>G (p.Lys1406Glu) c.787+5810A>G (n.787+5810A>G) c.4237A>G (p.Lys1413Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628098A>T | CA370981709 | RP1 | c.4216A>T (p.Lys1406Ter) c.787+5810A>T (n.787+5810A>T) c.4237A>T (p.Lys1413Ter) | |
| 8 | g.54628100_54628103del | CA1139660542 | RP1 | c.4218_4221del (p.Glu1407GlnfsTer10) c.787+5812_787+5815del (n.787+5812_787+5815del) c.4239_4242del (p.Glu1414GlnfsTer10) | ClinVar dbSNP |
| 8 | g.54628099A>C | CA370981710 | RP1 | c.4217A>C (p.Lys1406Thr) c.787+5811A>C (n.787+5811A>C) c.4238A>C (p.Lys1413Thr) | |
| 8 | g.54628099A>G | CA370981711 | RP1 | c.4217A>G (p.Lys1406Arg) c.787+5811A>G (n.787+5811A>G) c.4238A>G (p.Lys1413Arg) | |
| 8 | g.54628099A>T | CA370981712 | RP1 | c.4217A>T (p.Lys1406Ile) c.787+5811A>T (n.787+5811A>T) c.4238A>T (p.Lys1413Ile) | |
| 8 | g.54628100A>C | CA370981713 | RP1 | c.4218A>C (p.Lys1406Asn) c.787+5812A>C (n.787+5812A>C) c.4239A>C (p.Lys1413Asn) | gnomAD v4 |
| 8 | g.54628100A>G | CA461099877 | RP1 | c.4218A>G (p.Lys1406=) c.787+5812A>G (n.787+5812A>G) c.4239A>G (p.Lys1413=) | COSMIC |
| 8 | g.54628100A>T | CA370981714 | RP1 | c.4218A>T (p.Lys1406Asn) c.787+5812A>T (n.787+5812A>T) c.4239A>T (p.Lys1413Asn) | |
| 8 | g.54628101G>A | CA370981715 | RP1 | c.4219G>A (p.Glu1407Lys) c.787+5813G>A (n.787+5813G>A) c.4240G>A (p.Glu1414Lys) | |
| 8 | g.54628101G>C | CA370981716 | RP1 | c.4219G>C (p.Glu1407Gln) c.787+5813G>C (n.787+5813G>C) c.4240G>C (p.Glu1414Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628101G= | CA1785189035 | RP1 | c.4219G= (p.Glu1407=) c.787+5813G= (n.787+5813G=) c.4240G= (p.Glu1414=) | |
| 8 | g.54628101G>T | CA370981717 | RP1 | c.4219G>T (p.Glu1407Ter) c.787+5813G>T (n.787+5813G>T) c.4240G>T (p.Glu1414Ter) | COSMIC |
| 8 | g.54628102A>C | CA370981718 | RP1 | c.4220A>C (p.Glu1407Ala) c.787+5814A>C (n.787+5814A>C) c.4241A>C (p.Glu1414Ala) | |
| 8 | g.54628102A>G | CA370981719 | RP1 | c.4220A>G (p.Glu1407Gly) c.787+5814A>G (n.787+5814A>G) c.4241A>G (p.Glu1414Gly) | |
| 8 | g.54628102A>T | CA370981720 | RP1 | c.4220A>T (p.Glu1407Val) c.787+5814A>T (n.787+5814A>T) c.4241A>T (p.Glu1414Val) | |
| 8 | g.54628103A>C | CA370981721 | RP1 | c.4221A>C (p.Glu1407Asp) c.787+5815A>C (n.787+5815A>C) c.4242A>C (p.Glu1414Asp) | |
| 8 | g.54628103A>G | CA461099881 | RP1 | c.4221A>G (p.Glu1407=) c.787+5815A>G (n.787+5815A>G) c.4242A>G (p.Glu1414=) | |
| 8 | g.54628103A>T | CA370981722 | RP1 | c.4221A>T (p.Glu1407Asp) c.787+5815A>T (n.787+5815A>T) c.4242A>T (p.Glu1414Asp) | gnomAD v4 |
| 8 | g.54628104G>A | CA370981723 | RP1 | c.4222G>A (p.Ala1408Thr) c.787+5816G>A (n.787+5816G>A) c.4243G>A (p.Ala1415Thr) | ClinVar dbSNP |
| 8 | g.54628104G>C | CA370981724 | RP1 | c.4222G>C (p.Ala1408Pro) c.787+5816G>C (n.787+5816G>C) c.4243G>C (p.Ala1415Pro) | |
| 8 | g.54628104G= | CA1785189036 | RP1 | c.4222G= (p.Ala1408=) c.787+5816G= (n.787+5816G=) c.4243G= (p.Ala1415=) | |
| 8 | g.54628104G>T | CA370981725 | RP1 | c.4222G>T (p.Ala1408Ser) c.787+5816G>T (n.787+5816G>T) c.4243G>T (p.Ala1415Ser) | |
| 8 | g.54628105C>A | CA4751821 | RP1 | c.4223C>A (p.Ala1408Glu) c.787+5817C>A (n.787+5817C>A) c.4244C>A (p.Ala1415Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628105C= | CA1785189037 | RP1 | c.4223C= (p.Ala1408=) c.787+5817C= (n.787+5817C=) c.4244C= (p.Ala1415=) | |
| 8 | g.54628105C>G | CA370981727 | RP1 | c.4223C>G (p.Ala1408Gly) c.787+5817C>G (n.787+5817C>G) c.4244C>G (p.Ala1415Gly) | |
| 8 | g.54628105C>T | CA370981726 | RP1 | c.4223C>T (p.Ala1408Val) c.787+5817C>T (n.787+5817C>T) c.4244C>T (p.Ala1415Val) | gnomAD v4 |
| 8 | g.54628106A= | CA1785189038 | RP1 | c.4224A= (p.Ala1408=) c.787+5818A= (n.787+5818A=) c.4245A= (p.Ala1415=) | |
| 8 | g.54628106A>C | CA461099883 | RP1 | c.4224A>C (p.Ala1408=) c.787+5818A>C (n.787+5818A>C) c.4245A>C (p.Ala1415=) | |
| 8 | g.54628106A>G | CA177181453 | RP1 | c.4224A>G (p.Ala1408=) c.787+5818A>G (n.787+5818A>G) c.4245A>G (p.Ala1415=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54628106A>T | CA461099889 | RP1 | c.4224A>T (p.Ala1408=) c.787+5818A>T (n.787+5818A>T) c.4245A>T (p.Ala1415=) | |
| 8 | g.54628107G>A | CA370981730 | RP1 | c.4225G>A (p.Glu1409Lys) c.787+5819G>A (n.787+5819G>A) c.4246G>A (p.Glu1416Lys) | COSMIC |
| 8 | g.54628107G>C | CA370981728 | RP1 | c.4225G>C (p.Glu1409Gln) c.787+5819G>C (n.787+5819G>C) c.4246G>C (p.Glu1416Gln) | |
| 8 | g.54628107G>T | CA370981729 | RP1 | c.4225G>T (p.Glu1409Ter) c.787+5819G>T (n.787+5819G>T) c.4246G>T (p.Glu1416Ter) | |
| 8 | g.54628108A>C | CA370981731 | RP1 | c.4226A>C (p.Glu1409Ala) c.787+5820A>C (n.787+5820A>C) c.4247A>C (p.Glu1416Ala) | |
| 8 | g.54628108A>G | CA370981732 | RP1 | c.4226A>G (p.Glu1409Gly) c.787+5820A>G (n.787+5820A>G) c.4247A>G (p.Glu1416Gly) | gnomAD v4 |
| 8 | g.54628108A>T | CA370981733 | RP1 | c.4226A>T (p.Glu1409Val) c.787+5820A>T (n.787+5820A>T) c.4247A>T (p.Glu1416Val) | ClinVar |
| 8 | g.54628109A>C | CA370981734 | RP1 | c.4227A>C (p.Glu1409Asp) c.787+5821A>C (n.787+5821A>C) c.4248A>C (p.Glu1416Asp) | gnomAD v4 |
| 8 | g.54628109A>G | CA461099894 | RP1 | c.4227A>G (p.Glu1409=) c.787+5821A>G (n.787+5821A>G) c.4248A>G (p.Glu1416=) | |
| 8 | g.54628109A>T | CA370981735 | RP1 | c.4227A>T (p.Glu1409Asp) c.787+5821A>T (n.787+5821A>T) c.4248A>T (p.Glu1416Asp) | |
| 8 | g.54628110C>A | CA370981736 | RP1 | c.4228C>A (p.Leu1410Ile) c.787+5822C>A (n.787+5822C>A) c.4249C>A (p.Leu1417Ile) | gnomAD v4 |
| 8 | g.54628110C>G | CA370981737 | RP1 | c.4228C>G (p.Leu1410Val) c.787+5822C>G (n.787+5822C>G) c.4249C>G (p.Leu1417Val) | |
| 8 | g.54628110C>T | CA370981738 | RP1 | c.4228C>T (p.Leu1410Phe) c.787+5822C>T (n.787+5822C>T) c.4249C>T (p.Leu1417Phe) | |
| 8 | g.54628111T>A | CA370981739 | RP1 | c.4229T>A (p.Leu1410His) c.787+5823T>A (n.787+5823T>A) c.4250T>A (p.Leu1417His) | |
| 8 | g.54628111T>C | CA4751823 | RP1 | c.4229T>C (p.Leu1410Pro) c.787+5823T>C (n.787+5823T>C) c.4250T>C (p.Leu1417Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54628111T>G | CA4751822 | RP1 | c.4229T>G (p.Leu1410Arg) c.787+5823T>G (n.787+5823T>G) c.4250T>G (p.Leu1417Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54628111T= | CA1785189039 | RP1 | c.4229T= (p.Leu1410=) c.787+5823T= (n.787+5823T=) c.4250T= (p.Leu1417=) | |
| 8 | g.54628112T>A | CA461099901 | RP1 | c.4230T>A (p.Leu1410=) c.787+5824T>A (n.787+5824T>A) c.4251T>A (p.Leu1417=) | |
| 8 | g.54628112T>C | CA461099902 | RP1 | c.4230T>C (p.Leu1410=) c.787+5824T>C (n.787+5824T>C) c.4251T>C (p.Leu1417=) | |
| 8 | g.54628112T>G | CA461099903 | RP1 | c.4230T>G (p.Leu1410=) c.787+5824T>G (n.787+5824T>G) c.4251T>G (p.Leu1417=) | gnomAD v4 |
| 8 | g.54628113G>A | CA370981740 | RP1 | c.4231G>A (p.Asp1411Asn) c.787+5825G>A (n.787+5825G>A) c.4252G>A (p.Asp1418Asn) | |
| 8 | g.54628113G>C | CA370981742 | RP1 | c.4231G>C (p.Asp1411His) c.787+5825G>C (n.787+5825G>C) c.4252G>C (p.Asp1418His) | |
| 8 | g.54628113G= | CA1785189040 | RP1 | c.4231G= (p.Asp1411=) c.787+5825G= (n.787+5825G=) c.4252G= (p.Asp1418=) | |
| 8 | g.54628113G>T | CA370981741 | RP1 | c.4231G>T (p.Asp1411Tyr) c.787+5825G>T (n.787+5825G>T) c.4252G>T (p.Asp1418Tyr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54628114A= | CA1785189041 | RP1 | c.4232A= (p.Asp1411=) c.787+5826A= (n.787+5826A=) c.4253A= (p.Asp1418=) | |
| 8 | g.54628114A>C | CA370981743 | RP1 | c.4232A>C (p.Asp1411Ala) c.787+5826A>C (n.787+5826A>C) c.4253A>C (p.Asp1418Ala) | |
| 8 | g.54628114A>G | CA370981744 | RP1 | c.4232A>G (p.Asp1411Gly) c.787+5826A>G (n.787+5826A>G) c.4253A>G (p.Asp1418Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628114A>T | CA370981745 | RP1 | c.4232A>T (p.Asp1411Val) c.787+5826A>T (n.787+5826A>T) c.4253A>T (p.Asp1418Val) | |
| 8 | g.54628115T>A | CA370981746 | RP1 | c.4233T>A (p.Asp1411Glu) c.787+5827T>A (n.787+5827T>A) c.4254T>A (p.Asp1418Glu) | |
| 8 | g.54628115T>C | CA461099908 | RP1 | c.4233T>C (p.Asp1411=) c.787+5827T>C (n.787+5827T>C) c.4254T>C (p.Asp1418=) | |
| 8 | g.54628115T>G | CA370981747 | RP1 | c.4233T>G (p.Asp1411Glu) c.787+5827T>G (n.787+5827T>G) c.4254T>G (p.Asp1418Glu) | |
| 8 | g.54628116A>C | CA370981748 | RP1 | c.4234A>C (p.Lys1412Gln) c.787+5828A>C (n.787+5828A>C) c.4255A>C (p.Lys1419Gln) | |
| 8 | g.54628116A>G | CA370981749 | RP1 | c.4234A>G (p.Lys1412Glu) c.787+5828A>G (n.787+5828A>G) c.4255A>G (p.Lys1419Glu) | gnomAD v4 |
| 8 | g.54628116A>T | CA370981750 | RP1 | c.4234A>T (p.Lys1412Ter) c.787+5828A>T (n.787+5828A>T) c.4255A>T (p.Lys1419Ter) | |
| 8 | g.54628117A>C | CA370981751 | RP1 | c.4235A>C (p.Lys1412Thr) c.787+5829A>C (n.787+5829A>C) c.4256A>C (p.Lys1419Thr) | |
| 8 | g.54628117A>G | CA370981752 | RP1 | c.4235A>G (p.Lys1412Arg) c.787+5829A>G (n.787+5829A>G) c.4256A>G (p.Lys1419Arg) | |
| 8 | g.54628117A>T | CA370981753 | RP1 | c.4235A>T (p.Lys1412Met) c.787+5829A>T (n.787+5829A>T) c.4256A>T (p.Lys1419Met) | |
| 8 | g.54628118G>A | CA461099910 | RP1 | c.4236G>A (p.Lys1412=) c.787+5830G>A (n.787+5830G>A) c.4257G>A (p.Lys1419=) | |
| 8 | g.54628118G>C | CA370981755 | RP1 | c.4236G>C (p.Lys1412Asn) c.787+5830G>C (n.787+5830G>C) c.4257G>C (p.Lys1419Asn) | |
| 8 | g.54628118G>T | CA370981754 | RP1 | c.4236G>T (p.Lys1412Asn) c.787+5830G>T (n.787+5830G>T) c.4257G>T (p.Lys1419Asn) | |
| 8 | g.54628119A>C | CA370981756 | RP1 | c.4237A>C (p.Lys1413Gln) c.787+5831A>C (n.787+5831A>C) c.4258A>C (p.Lys1420Gln) | |
| 8 | g.54628119A>G | CA370981757 | RP1 | c.4237A>G (p.Lys1413Glu) c.787+5831A>G (n.787+5831A>G) c.4258A>G (p.Lys1420Glu) | |
| 8 | g.54628119A>T | CA370981758 | RP1 | c.4237A>T (p.Lys1413Ter) c.787+5831A>T (n.787+5831A>T) c.4258A>T (p.Lys1420Ter) | |
| 8 | g.54628120A>C | CA370981759 | RP1 | c.4238A>C (p.Lys1413Thr) c.787+5832A>C (n.787+5832A>C) c.4259A>C (p.Lys1420Thr) | |
| 8 | g.54628120A>G | CA370981760 | RP1 | c.4238A>G (p.Lys1413Arg) c.787+5832A>G (n.787+5832A>G) c.4259A>G (p.Lys1420Arg) | |
| 8 | g.54628120A>T | CA370981761 | RP1 | c.4238A>T (p.Lys1413Ile) c.787+5832A>T (n.787+5832A>T) c.4259A>T (p.Lys1420Ile) | |
| 8 | g.54628121A= | CA1785189042 | RP1 | c.4239A= (p.Lys1413=) c.787+5833A= (n.787+5833A=) c.4260A= (p.Lys1420=) | |
| 8 | g.54628121A>C | CA4751824 | RP1 | c.4239A>C (p.Lys1413Asn) c.787+5833A>C (n.787+5833A>C) c.4260A>C (p.Lys1420Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628121A>G | CA461099919 | RP1 | c.4239A>G (p.Lys1413=) c.787+5833A>G (n.787+5833A>G) c.4260A>G (p.Lys1420=) | |
| 8 | g.54628121A>T | CA370981762 | RP1 | c.4239A>T (p.Lys1413Asn) c.787+5833A>T (n.787+5833A>T) c.4260A>T (p.Lys1420Asn) | gnomAD v4 |
| 8 | g.54628122C>A | CA370981763 | RP1 | c.4240C>A (p.His1414Asn) c.787+5834C>A (n.787+5834C>A) c.4261C>A (p.His1421Asn) | |
| 8 | g.54628122C>G | CA370981765 | RP1 | c.4240C>G (p.His1414Asp) c.787+5834C>G (n.787+5834C>G) c.4261C>G (p.His1421Asp) | |
| 8 | g.54628122C>T | CA370981764 | RP1 | c.4240C>T (p.His1414Tyr) c.787+5834C>T (n.787+5834C>T) c.4261C>T (p.His1421Tyr) | |
| 8 | g.54628122_54628124delinsCAT | CA1785189043 | RP1 | c.4240_4242delinsCAT (p.His1414=) c.787+5834_787+5836delinsCAT (n.787+5834_787+5836delinsCAT) c.4261_4263delinsCAT (p.His1421=) | |
| 8 | g.54628123A= | CA1785189044 | RP1 | c.4241A= (p.His1414=) c.787+5835A= (n.787+5835A=) c.4262A= (p.His1421=) | |
| 8 | g.54628123A>C | CA370981766 | RP1 | c.4241A>C (p.His1414Pro) c.787+5835A>C (n.787+5835A>C) c.4262A>C (p.His1421Pro) | |
| 8 | g.54628123A>G | CA4751826 | RP1 | c.4241A>G (p.His1414Arg) c.787+5835A>G (n.787+5835A>G) c.4262A>G (p.His1421Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628123A>T | CA370981767 | RP1 | c.4241A>T (p.His1414Leu) c.787+5835A>T (n.787+5835A>T) c.4262A>T (p.His1421Leu) | |
| 8 | g.54628124_54628125del | CA4751825 | RP1 | c.4242_4243del (p.His1414GlnfsTer5) c.787+5836_787+5837del (n.787+5836_787+5837del) c.4263_4264del (p.His1421GlnfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628124T>A | CA370981768 | RP1 | c.4242T>A (p.His1414Gln) c.787+5836T>A (n.787+5836T>A) c.4263T>A (p.His1421Gln) | |
| 8 | g.54628124T>C | CA4751827 | RP1 | c.4242T>C (p.His1414=) c.787+5836T>C (n.787+5836T>C) c.4263T>C (p.His1421=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628124T>G | CA370981769 | RP1 | c.4242T>G (p.His1414Gln) c.787+5836T>G (n.787+5836T>G) c.4263T>G (p.His1421Gln) | COSMIC |
| 8 | g.54628124T= | CA1785189045 | RP1 | c.4242T= (p.His1414=) c.787+5836T= (n.787+5836T=) c.4263T= (p.His1421=) | |
| 8 | g.54628125A>C | CA370981770 | RP1 | c.4243A>C (p.Ser1415Arg) c.787+5837A>C (n.787+5837A>C) c.4264A>C (p.Ser1422Arg) | |
| 8 | g.54628125A>G | CA370981771 | RP1 | c.4243A>G (p.Ser1415Gly) c.787+5837A>G (n.787+5837A>G) c.4264A>G (p.Ser1422Gly) | |
| 8 | g.54628125A>T | CA370981772 | RP1 | c.4243A>T (p.Ser1415Cys) c.787+5837A>T (n.787+5837A>T) c.4264A>T (p.Ser1422Cys) | |
| 8 | g.54628126G>A | CA370981773 | RP1 | c.4244G>A (p.Ser1415Asn) c.787+5838G>A (n.787+5838G>A) c.4265G>A (p.Ser1422Asn) | COSMIC |
| 8 | g.54628126G>C | CA370981774 | RP1 | c.4244G>C (p.Ser1415Thr) c.787+5838G>C (n.787+5838G>C) c.4265G>C (p.Ser1422Thr) | |
| 8 | g.54628126G>T | CA370981775 | RP1 | c.4244G>T (p.Ser1415Ile) c.787+5838G>T (n.787+5838G>T) c.4265G>T (p.Ser1422Ile) | |
| 8 | g.54628127T>A | CA370981776 | RP1 | c.4245T>A (p.Ser1415Arg) c.787+5839T>A (n.787+5839T>A) c.4266T>A (p.Ser1422Arg) | |
| 8 | g.54628127T>C | CA461099935 | RP1 | c.4245T>C (p.Ser1415=) c.787+5839T>C (n.787+5839T>C) c.4266T>C (p.Ser1422=) | COSMIC |
| 8 | g.54628127T>G | CA370981777 | RP1 | c.4245T>G (p.Ser1415Arg) c.787+5839T>G (n.787+5839T>G) c.4266T>G (p.Ser1422Arg) | |
| 8 | g.54628128T>A | CA370981778 | RP1 | c.4246T>A (p.Ser1416Thr) c.787+5840T>A (n.787+5840T>A) c.4267T>A (p.Ser1423Thr) | |
| 8 | g.54628128T>C | CA370981779 | RP1 | c.4246T>C (p.Ser1416Pro) c.787+5840T>C (n.787+5840T>C) c.4267T>C (p.Ser1423Pro) | |
| 8 | g.54628128T>G | CA370981780 | RP1 | c.4246T>G (p.Ser1416Ala) c.787+5840T>G (n.787+5840T>G) c.4267T>G (p.Ser1423Ala) | |
| 8 | g.54628129C>A | CA370981783 | RP1 | c.4247C>A (p.Ser1416Tyr) c.787+5841C>A (n.787+5841C>A) c.4268C>A (p.Ser1423Tyr) | |
| 8 | g.54628129C>G | CA370981782 | RP1 | c.4247C>G (p.Ser1416Cys) c.787+5841C>G (n.787+5841C>G) c.4268C>G (p.Ser1423Cys) | |
| 8 | g.54628129C>T | CA370981781 | RP1 | c.4247C>T (p.Ser1416Phe) c.787+5841C>T (n.787+5841C>T) c.4268C>T (p.Ser1423Phe) | gnomAD v4 |
| 8 | g.54628130T>A | CA461099943 | RP1 | c.4248T>A (p.Ser1416=) c.787+5842T>A (n.787+5842T>A) c.4269T>A (p.Ser1423=) | |
| 8 | g.54628130T>C | CA461099945 | RP1 | c.4248T>C (p.Ser1416=) c.787+5842T>C (n.787+5842T>C) c.4269T>C (p.Ser1423=) | |
| 8 | g.54628130T>G | CA461099944 | RP1 | c.4248T>G (p.Ser1416=) c.787+5842T>G (n.787+5842T>G) c.4269T>G (p.Ser1423=) | |
| 8 | g.54628131C>A | CA370981784 | RP1 | c.4249C>A (p.Leu1417Ile) c.787+5843C>A (n.787+5843C>A) c.4270C>A (p.Leu1424Ile) | |
| 8 | g.54628131C= | CA1785189046 | RP1 | c.4249C= (p.Leu1417=) c.787+5843C= (n.787+5843C=) c.4270C= (p.Leu1424=) | |
| 8 | g.54628131C>G | CA4751828 | RP1 | c.4249C>G (p.Leu1417Val) c.787+5843C>G (n.787+5843C>G) c.4270C>G (p.Leu1424Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628131C>T | CA461099946 | RP1 | c.4249C>T (p.Leu1417=) c.787+5843C>T (n.787+5843C>T) c.4270C>T (p.Leu1424=) | |
| 8 | g.54628132T>A | CA370981785 | RP1 | c.4250T>A (p.Leu1417Gln) c.787+5844T>A (n.787+5844T>A) c.4271T>A (p.Leu1424Gln) | |
| 8 | g.54628132T>C | CA4751829 | RP1 | c.4250T>C (p.Leu1417Pro) c.787+5844T>C (n.787+5844T>C) c.4271T>C (p.Leu1424Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628132T>G | CA370981786 | RP1 | c.4250T>G (p.Leu1417Arg) c.787+5844T>G (n.787+5844T>G) c.4271T>G (p.Leu1424Arg) | |
| 8 | g.54628132T= | CA1785189047 | RP1 | c.4250T= (p.Leu1417=) c.787+5844T= (n.787+5844T=) c.4271T= (p.Leu1424=) | |
| 8 | g.54628133A= | CA1785189048 | RP1 | c.4251A= (p.Leu1417=) c.787+5845A= (n.787+5845A=) c.4272A= (p.Leu1424=) | |
| 8 | g.54628133A>C | CA177181547 | RP1 | c.4251A>C (p.Leu1417=) c.787+5845A>C (n.787+5845A>C) c.4272A>C (p.Leu1424=) | dbSNP COSMIC |
| 8 | g.54628133A>G | CA461099948 | RP1 | c.4251A>G (p.Leu1417=) c.787+5845A>G (n.787+5845A>G) c.4272A>G (p.Leu1424=) | |
| 8 | g.54628133A>T | CA461099949 | RP1 | c.4251A>T (p.Leu1417=) c.787+5845A>T (n.787+5845A>T) c.4272A>T (p.Leu1424=) | |
| 8 | g.54628134G>A | CA370981787 | RP1 | c.4252G>A (p.Asp1418Asn) c.787+5846G>A (n.787+5846G>A) c.4273G>A (p.Asp1425Asn) | |
| 8 | g.54628134G>C | CA370981788 | RP1 | c.4252G>C (p.Asp1418His) c.787+5846G>C (n.787+5846G>C) c.4273G>C (p.Asp1425His) | |
| 8 | g.54628134G>T | CA370981789 | RP1 | c.4252G>T (p.Asp1418Tyr) c.787+5846G>T (n.787+5846G>T) c.4273G>T (p.Asp1425Tyr) | |
| 8 | g.54628135A= | CA1785189049 | RP1 | c.4253A= (p.Asp1418=) c.787+5847A= (n.787+5847A=) c.4274A= (p.Asp1425=) | |
| 8 | g.54628135A>C | CA370981790 | RP1 | c.4253A>C (p.Asp1418Ala) c.787+5847A>C (n.787+5847A>C) c.4274A>C (p.Asp1425Ala) | ClinVar |
| 8 | g.54628135A>G | CA4751830 | RP1 | c.4253A>G (p.Asp1418Gly) c.787+5847A>G (n.787+5847A>G) c.4274A>G (p.Asp1425Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628135A>T | CA370981791 | RP1 | c.4253A>T (p.Asp1418Val) c.787+5847A>T (n.787+5847A>T) c.4274A>T (p.Asp1425Val) | |
| 8 | g.54628136T>A | CA370981792 | RP1 | c.4254T>A (p.Asp1418Glu) c.787+5848T>A (n.787+5848T>A) c.4275T>A (p.Asp1425Glu) | |
| 8 | g.54628136T>C | CA461099957 | RP1 | c.4254T>C (p.Asp1418=) c.787+5848T>C (n.787+5848T>C) c.4275T>C (p.Asp1425=) | |
| 8 | g.54628136T>G | CA370981793 | RP1 | c.4254T>G (p.Asp1418Glu) c.787+5848T>G (n.787+5848T>G) c.4275T>G (p.Asp1425Glu) | |
| 8 | g.54628137G>A | CA177181551 | RP1 | c.4255G>A (p.Asp1419Asn) c.787+5849G>A (n.787+5849G>A) c.4276G>A (p.Asp1426Asn) | dbSNP |
| 8 | g.54628137G>C | CA370981795 | RP1 | c.4255G>C (p.Asp1419His) c.787+5849G>C (n.787+5849G>C) c.4276G>C (p.Asp1426His) | |
| 8 | g.54628137G= | CA1785189050 | RP1 | c.4255G= (p.Asp1419=) c.787+5849G= (n.787+5849G=) c.4276G= (p.Asp1426=) | |
| 8 | g.54628137G>T | CA370981794 | RP1 | c.4255G>T (p.Asp1419Tyr) c.787+5849G>T (n.787+5849G>T) c.4276G>T (p.Asp1426Tyr) | gnomAD v4 |
| 8 | g.54628138A>C | CA370981796 | RP1 | c.4256A>C (p.Asp1419Ala) c.787+5850A>C (n.787+5850A>C) c.4277A>C (p.Asp1426Ala) | |
| 8 | g.54628138A>G | CA370981797 | RP1 | c.4256A>G (p.Asp1419Gly) c.787+5850A>G (n.787+5850A>G) c.4277A>G (p.Asp1426Gly) | |
| 8 | g.54628138A>T | CA370981798 | RP1 | c.4256A>T (p.Asp1419Val) c.787+5850A>T (n.787+5850A>T) c.4277A>T (p.Asp1426Val) | |
| 8 | g.54628139T>A | CA370981799 | RP1 | c.4257T>A (p.Asp1419Glu) c.787+5851T>A (n.787+5851T>A) c.4278T>A (p.Asp1426Glu) | |
| 8 | g.54628139T>C | CA461099965 | RP1 | c.4257T>C (p.Asp1419=) c.787+5851T>C (n.787+5851T>C) c.4278T>C (p.Asp1426=) | |
| 8 | g.54628139T>G | CA370981800 | RP1 | c.4257T>G (p.Asp1419Glu) c.787+5851T>G (n.787+5851T>G) c.4278T>G (p.Asp1426Glu) | |
| 8 | g.54628140T>A | CA370981801 | RP1 | c.4258T>A (p.Phe1420Ile) c.787+5852T>A (n.787+5852T>A) c.4279T>A (p.Phe1427Ile) | |
| 8 | g.54628140T>C | CA370981802 | RP1 | c.4258T>C (p.Phe1420Leu) c.787+5852T>C (n.787+5852T>C) c.4279T>C (p.Phe1427Leu) | |
| 8 | g.54628140T>G | CA370981803 | RP1 | c.4258T>G (p.Phe1420Val) c.787+5852T>G (n.787+5852T>G) c.4279T>G (p.Phe1427Val) | |
| 8 | g.54628141T>A | CA370981804 | RP1 | c.4259T>A (p.Phe1420Tyr) c.787+5853T>A (n.787+5853T>A) c.4280T>A (p.Phe1427Tyr) | |
| 8 | g.54628141T>C | CA370981805 | RP1 | c.4259T>C (p.Phe1420Ser) c.787+5853T>C (n.787+5853T>C) c.4280T>C (p.Phe1427Ser) | |
| 8 | g.54628141T>G | CA370981806 | RP1 | c.4259T>G (p.Phe1420Cys) c.787+5853T>G (n.787+5853T>G) c.4280T>G (p.Phe1427Cys) | |
| 8 | g.54628142T>A | CA370981807 | RP1 | c.4260T>A (p.Phe1420Leu) c.787+5854T>A (n.787+5854T>A) c.4281T>A (p.Phe1427Leu) | |
| 8 | g.54628142T>C | CA461099968 | RP1 | c.4260T>C (p.Phe1420=) c.787+5854T>C (n.787+5854T>C) c.4281T>C (p.Phe1427=) | |
| 8 | g.54628142T>G | CA370981808 | RP1 | c.4260T>G (p.Phe1420Leu) c.787+5854T>G (n.787+5854T>G) c.4281T>G (p.Phe1427Leu) | |
| 8 | g.54628143G>A | CA370981811 | RP1 | c.4261G>A (p.Glu1421Lys) c.787+5855G>A (n.787+5855G>A) c.4282G>A (p.Glu1428Lys) | COSMIC |
| 8 | g.54628143G>C | CA370981810 | RP1 | c.4261G>C (p.Glu1421Gln) c.787+5855G>C (n.787+5855G>C) c.4282G>C (p.Glu1428Gln) | |
| 8 | g.54628143G= | CA1785189051 | RP1 | c.4261G= (p.Glu1421=) c.787+5855G= (n.787+5855G=) c.4282G= (p.Glu1428=) | |
| 8 | g.54628143G>T | CA370981809 | RP1 | c.4261G>T (p.Glu1421Ter) c.787+5855G>T (n.787+5855G>T) c.4282G>T (p.Glu1428Ter) | dbSNP gnomAD v2 |
| 8 | g.54628144A= | CA1785189052 | RP1 | c.4262A= (p.Glu1421=) c.787+5856A= (n.787+5856A=) c.4283A= (p.Glu1428=) | |
| 8 | g.54628144A>C | CA4751831 | RP1 | c.4262A>C (p.Glu1421Ala) c.787+5856A>C (n.787+5856A>C) c.4283A>C (p.Glu1428Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628144A>G | CA370981812 | RP1 | c.4262A>G (p.Glu1421Gly) c.787+5856A>G (n.787+5856A>G) c.4283A>G (p.Glu1428Gly) | |
| 8 | g.54628144A>T | CA370981813 | RP1 | c.4262A>T (p.Glu1421Val) c.787+5856A>T (n.787+5856A>T) c.4283A>T (p.Glu1428Val) | |
| 8 | g.54628145A>C | CA370981814 | RP1 | c.4263A>C (p.Glu1421Asp) c.787+5857A>C (n.787+5857A>C) c.4284A>C (p.Glu1428Asp) | |
| 8 | g.54628145A>G | CA461099971 | RP1 | c.4263A>G (p.Glu1421=) c.787+5857A>G (n.787+5857A>G) c.4284A>G (p.Glu1428=) | |
| 8 | g.54628145A>T | CA370981815 | RP1 | c.4263A>T (p.Glu1421Asp) c.787+5857A>T (n.787+5857A>T) c.4284A>T (p.Glu1428Asp) | |
| 8 | g.54628146A>C | CA370981816 | RP1 | c.4264A>C (p.Asn1422His) c.787+5858A>C (n.787+5858A>C) c.4285A>C (p.Asn1429His) | |
| 8 | g.54628146A>G | CA370981817 | RP1 | c.4264A>G (p.Asn1422Asp) c.787+5858A>G (n.787+5858A>G) c.4285A>G (p.Asn1429Asp) | |
| 8 | g.54628146A>T | CA370981818 | RP1 | c.4264A>T (p.Asn1422Tyr) c.787+5858A>T (n.787+5858A>T) c.4285A>T (p.Asn1429Tyr) | |
| 8 | g.54628147A>C | CA370981819 | RP1 | c.4265A>C (p.Asn1422Thr) c.787+5859A>C (n.787+5859A>C) c.4286A>C (p.Asn1429Thr) | |
| 8 | g.54628147A>G | CA370981820 | RP1 | c.4265A>G (p.Asn1422Ser) c.787+5859A>G (n.787+5859A>G) c.4286A>G (p.Asn1429Ser) | |
| 8 | g.54628147A>T | CA370981821 | RP1 | c.4265A>T (p.Asn1422Ile) c.787+5859A>T (n.787+5859A>T) c.4286A>T (p.Asn1429Ile) | |
| 8 | g.54628148T>A | CA370981822 | RP1 | c.4266T>A (p.Asn1422Lys) c.787+5860T>A (n.787+5860T>A) c.4287T>A (p.Asn1429Lys) | dbSNP |
| 8 | g.54628148T>C | CA461099975 | RP1 | c.4266T>C (p.Asn1422=) c.787+5860T>C (n.787+5860T>C) c.4287T>C (p.Asn1429=) | dbSNP gnomAD v4 |
| 8 | g.54628148T>G | CA370981823 | RP1 | c.4266T>G (p.Asn1422Lys) c.787+5860T>G (n.787+5860T>G) c.4287T>G (p.Asn1429Lys) | |
| 8 | g.54628148T= | CA1785189053 | RP1 | c.4266T= (p.Asn1422=) c.787+5860T= (n.787+5860T=) c.4287T= (p.Asn1429=) | |
| 8 | g.54628149T>A | CA370981825 | RP1 | c.4267T>A (p.Cys1423Ser) c.787+5861T>A (n.787+5861T>A) c.4288T>A (p.Cys1430Ser) | ClinVar |
| 8 | g.54628149T>C | CA370981826 | RP1 | c.4267T>C (p.Cys1423Arg) c.787+5861T>C (n.787+5861T>C) c.4288T>C (p.Cys1430Arg) | dbSNP gnomAD v2 |
| 8 | g.54628149T>G | CA370981824 | RP1 | c.4267T>G (p.Cys1423Gly) c.787+5861T>G (n.787+5861T>G) c.4288T>G (p.Cys1430Gly) | |
| 8 | g.54628149T= | CA1785189054 | RP1 | c.4267T= (p.Cys1423=) c.787+5861T= (n.787+5861T=) c.4288T= (p.Cys1430=) | |
| 8 | g.54628150G>A | CA4751832 | RP1 | c.4268G>A (p.Cys1423Tyr) c.787+5862G>A (n.787+5862G>A) c.4289G>A (p.Cys1430Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628150G>C | CA370981827 | RP1 | c.4268G>C (p.Cys1423Ser) c.787+5862G>C (n.787+5862G>C) c.4289G>C (p.Cys1430Ser) | |
| 8 | g.54628150G= | CA1785189055 | RP1 | c.4268G= (p.Cys1423=) c.787+5862G= (n.787+5862G=) c.4289G= (p.Cys1430=) | |
| 8 | g.54628150G>T | CA370981828 | RP1 | c.4268G>T (p.Cys1423Phe) c.787+5862G>T (n.787+5862G>T) c.4289G>T (p.Cys1430Phe) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54628151T>A | CA370981829 | RP1 | c.4269T>A (p.Cys1423Ter) c.787+5863T>A (n.787+5863T>A) c.4290T>A (p.Cys1430Ter) | COSMIC |
| 8 | g.54628151T>C | CA4751833 | RP1 | c.4269T>C (p.Cys1423=) c.787+5863T>C (n.787+5863T>C) c.4290T>C (p.Cys1430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628151T>G | CA370981830 | RP1 | c.4269T>G (p.Cys1423Trp) c.787+5863T>G (n.787+5863T>G) c.4290T>G (p.Cys1430Trp) | |
| 8 | g.54628151T= | CA1785189056 | RP1 | c.4269T= (p.Cys1423=) c.787+5863T= (n.787+5863T=) c.4290T= (p.Cys1430=) | |
| 8 | g.54628152T>A | CA370981831 | RP1 | c.4270T>A (p.Ser1424Thr) c.787+5864T>A (n.787+5864T>A) c.4291T>A (p.Ser1431Thr) | |
| 8 | g.54628152T>C | CA370981833 | RP1 | c.4270T>C (p.Ser1424Pro) c.787+5864T>C (n.787+5864T>C) c.4291T>C (p.Ser1431Pro) | |
| 8 | g.54628152T>G | CA370981832 | RP1 | c.4270T>G (p.Ser1424Ala) c.787+5864T>G (n.787+5864T>G) c.4291T>G (p.Ser1431Ala) | |
| 8 | g.54628153C>A | CA370981834 | RP1 | c.4271C>A (p.Ser1424Ter) c.787+5865C>A (n.787+5865C>A) c.4292C>A (p.Ser1431Ter) | |
| 8 | g.54628153C= | CA1785189057 | RP1 | c.4271C= (p.Ser1424=) c.787+5865C= (n.787+5865C=) c.4292C= (p.Ser1431=) | |
| 8 | g.54628153C>G | CA370981835 | RP1 | c.4271C>G (p.Ser1424Ter) c.787+5865C>G (n.787+5865C>G) c.4292C>G (p.Ser1431Ter) | dbSNP |
| 8 | g.54628153C>T | CA4751834 | RP1 | c.4271C>T (p.Ser1424Leu) c.787+5865C>T (n.787+5865C>T) c.4292C>T (p.Ser1431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628154A>C | CA461099982 | RP1 | c.4272A>C (p.Ser1424=) c.787+5866A>C (n.787+5866A>C) c.4293A>C (p.Ser1431=) | |
| 8 | g.54628154A>G | CA461099984 | RP1 | c.4272A>G (p.Ser1424=) c.787+5866A>G (n.787+5866A>G) c.4293A>G (p.Ser1431=) | |
| 8 | g.54628154A>T | CA461099985 | RP1 | c.4272A>T (p.Ser1424=) c.787+5866A>T (n.787+5866A>T) c.4293A>T (p.Ser1431=) | |
| 8 | g.54628155C>A | CA370981836 | RP1 | c.4273C>A (p.Leu1425Ile) c.787+5867C>A (n.787+5867C>A) c.4294C>A (p.Leu1432Ile) | |
| 8 | g.54628155C= | CA1785189058 | RP1 | c.4273C= (p.Leu1425=) c.787+5867C= (n.787+5867C=) c.4294C= (p.Leu1432=) | |
| 8 | g.54628155C>G | CA370981837 | RP1 | c.4273C>G (p.Leu1425Val) c.787+5867C>G (n.787+5867C>G) c.4294C>G (p.Leu1432Val) | |
| 8 | g.54628155C>T | CA461099986 | RP1 | c.4273C>T (p.Leu1425=) c.787+5867C>T (n.787+5867C>T) c.4294C>T (p.Leu1432=) | dbSNP |
| 8 | g.54628156T>A | CA370981839 | RP1 | c.4274T>A (p.Leu1425Gln) c.787+5868T>A (n.787+5868T>A) c.4295T>A (p.Leu1432Gln) | |
| 8 | g.54628156T>C | CA370981840 | RP1 | c.4274T>C (p.Leu1425Pro) c.787+5868T>C (n.787+5868T>C) c.4295T>C (p.Leu1432Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628156T>G | CA370981838 | RP1 | c.4274T>G (p.Leu1425Arg) c.787+5868T>G (n.787+5868T>G) c.4295T>G (p.Leu1432Arg) | |
| 8 | g.54628156T= | CA1785189059 | RP1 | c.4274T= (p.Leu1425=) c.787+5868T= (n.787+5868T=) c.4295T= (p.Leu1432=) | |
| 8 | g.54628157A= | CA1785189060 | RP1 | c.4275A= (p.Leu1425=) c.787+5869A= (n.787+5869A=) c.4296A= (p.Leu1432=) | |
| 8 | g.54628157A>C | CA461100036 | RP1 | c.4275A>C (p.Leu1425=) c.787+5869A>C (n.787+5869A>C) c.4296A>C (p.Leu1432=) | |
| 8 | g.54628157A>G | CA4751835 | RP1 | c.4275A>G (p.Leu1425=) c.787+5869A>G (n.787+5869A>G) c.4296A>G (p.Leu1432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628157A>T | CA461100037 | RP1 | c.4275A>T (p.Leu1425=) c.787+5869A>T (n.787+5869A>T) c.4296A>T (p.Leu1432=) | |
| 8 | g.54628158A>C | CA461100038 | RP1 | c.4276A>C (p.Arg1426=) c.787+5870A>C (n.787+5870A>C) c.4297A>C (p.Arg1433=) | gnomAD v4 |
| 8 | g.54628158A>G | CA370981842 | RP1 | c.4276A>G (p.Arg1426Gly) c.787+5870A>G (n.787+5870A>G) c.4297A>G (p.Arg1433Gly) | gnomAD v4 |
| 8 | g.54628158A>T | CA370981841 | RP1 | c.4276A>T (p.Arg1426Trp) c.787+5870A>T (n.787+5870A>T) c.4297A>T (p.Arg1433Trp) | |
| 8 | g.54628159G>A | CA370981843 | RP1 | c.4277G>A (p.Arg1426Lys) c.787+5871G>A (n.787+5871G>A) c.4298G>A (p.Arg1433Lys) | |
| 8 | g.54628159G>C | CA370981844 | RP1 | c.4277G>C (p.Arg1426Thr) c.787+5871G>C (n.787+5871G>C) c.4298G>C (p.Arg1433Thr) | |
| 8 | g.54628159G>T | CA370981845 | RP1 | c.4277G>T (p.Arg1426Met) c.787+5871G>T (n.787+5871G>T) c.4298G>T (p.Arg1433Met) | |
| 8 | g.54628160G>A | CA461100039 | RP1 | c.4278G>A (p.Arg1426=) c.787+5872G>A (n.787+5872G>A) c.4299G>A (p.Arg1433=) | COSMIC |
| 8 | g.54628160G>C | CA370981846 | RP1 | c.4278G>C (p.Arg1426Ser) c.787+5872G>C (n.787+5872G>C) c.4299G>C (p.Arg1433Ser) | |
| 8 | g.54628160G>T | CA370981847 | RP1 | c.4278G>T (p.Arg1426Ser) c.787+5872G>T (n.787+5872G>T) c.4299G>T (p.Arg1433Ser) | gnomAD v4 |
| 8 | g.54628160_54628161insT | CA645560583 | RP1 | c.4278_4279insT (p.Lys1427Ter) c.787+5872_787+5873insT (n.787+5872_787+5873insT) c.4299_4300insT (p.Lys1434Ter) | COSMIC |
| 8 | g.54628161A= | CA1785189061 | RP1 | c.4279A= (p.Lys1427=) c.787+5873A= (n.787+5873A=) c.4300A= (p.Lys1434=) | |
| 8 | g.54628161A>C | CA370981848 | RP1 | c.4279A>C (p.Lys1427Gln) c.787+5873A>C (n.787+5873A>C) c.4300A>C (p.Lys1434Gln) | |
| 8 | g.54628161A>G | CA370981849 | RP1 | c.4279A>G (p.Lys1427Glu) c.787+5873A>G (n.787+5873A>G) c.4300A>G (p.Lys1434Glu) | ClinVar dbSNP |
| 8 | g.54628161A>T | CA370981850 | RP1 | c.4279A>T (p.Lys1427Ter) c.787+5873A>T (n.787+5873A>T) c.4300A>T (p.Lys1434Ter) | |
| 8 | g.54628162A= | CA1785189062 | RP1 | c.4280A= (p.Lys1427=) c.787+5874A= (n.787+5874A=) c.4301A= (p.Lys1434=) | |
| 8 | g.54628162A>C | CA370981851 | RP1 | c.4280A>C (p.Lys1427Thr) c.787+5874A>C (n.787+5874A>C) c.4301A>C (p.Lys1434Thr) | |
| 8 | g.54628162A>G | CA4751836 | RP1 | c.4280A>G (p.Lys1427Arg) c.787+5874A>G (n.787+5874A>G) c.4301A>G (p.Lys1434Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628162A>T | CA370981852 | RP1 | c.4280A>T (p.Lys1427Met) c.787+5874A>T (n.787+5874A>T) c.4301A>T (p.Lys1434Met) | dbSNP |
| 8 | g.54628163G>A | CA4751837 | RP1 | c.4281G>A (p.Lys1427=) c.787+5875G>A (n.787+5875G>A) c.4302G>A (p.Lys1434=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628163G>C | CA370981853 | RP1 | c.4281G>C (p.Lys1427Asn) c.787+5875G>C (n.787+5875G>C) c.4302G>C (p.Lys1434Asn) | |
| 8 | g.54628163G= | CA1785189063 | RP1 | c.4281G= (p.Lys1427=) c.787+5875G= (n.787+5875G=) c.4302G= (p.Lys1434=) | |
| 8 | g.54628163G>T | CA370981854 | RP1 | c.4281G>T (p.Lys1427Asn) c.787+5875G>T (n.787+5875G>T) c.4302G>T (p.Lys1434Asn) | |
| 8 | g.54628164T>A | CA370981855 | RP1 | c.4282T>A (p.Phe1428Ile) c.787+5876T>A (n.787+5876T>A) c.4303T>A (p.Phe1435Ile) | |
| 8 | g.54628164T>C | CA370981856 | RP1 | c.4282T>C (p.Phe1428Leu) c.787+5876T>C (n.787+5876T>C) c.4303T>C (p.Phe1435Leu) | |
| 8 | g.54628164T>G | CA370981857 | RP1 | c.4282T>G (p.Phe1428Val) c.787+5876T>G (n.787+5876T>G) c.4303T>G (p.Phe1435Val) | |
| 8 | g.54628165T>A | CA370981858 | RP1 | c.4283T>A (p.Phe1428Tyr) c.787+5877T>A (n.787+5877T>A) c.4304T>A (p.Phe1435Tyr) | |
| 8 | g.54628165T>C | CA370981859 | RP1 | c.4283T>C (p.Phe1428Ser) c.787+5877T>C (n.787+5877T>C) c.4304T>C (p.Phe1435Ser) | |
| 8 | g.54628165T>G | CA370981860 | RP1 | c.4283T>G (p.Phe1428Cys) c.787+5877T>G (n.787+5877T>G) c.4304T>G (p.Phe1435Cys) | |
| 8 | g.54628166T>A | CA370981861 | RP1 | c.4284T>A (p.Phe1428Leu) c.787+5878T>A (n.787+5878T>A) c.4305T>A (p.Phe1435Leu) | |
| 8 | g.54628166T>C | CA461100048 | RP1 | c.4284T>C (p.Phe1428=) c.787+5878T>C (n.787+5878T>C) c.4305T>C (p.Phe1435=) | |
| 8 | g.54628166T>G | CA370981862 | RP1 | c.4284T>G (p.Phe1428Leu) c.787+5878T>G (n.787+5878T>G) c.4305T>G (p.Phe1435Leu) | |
| 8 | g.54628167C>A | CA370981863 | RP1 | c.4285C>A (p.Gln1429Lys) c.787+5879C>A (n.787+5879C>A) c.4306C>A (p.Gln1436Lys) | |
| 8 | g.54628167C>G | CA370981864 | RP1 | c.4285C>G (p.Gln1429Glu) c.787+5879C>G (n.787+5879C>G) c.4306C>G (p.Gln1436Glu) | |
| 8 | g.54628167C>T | CA370981865 | RP1 | c.4285C>T (p.Gln1429Ter) c.787+5879C>T (n.787+5879C>T) c.4306C>T (p.Gln1436Ter) | COSMIC |
| 8 | g.54628168A= | CA1785189064 | RP1 | c.4286A= (p.Gln1429=) c.787+5880A= (n.787+5880A=) c.4307A= (p.Gln1436=) | |
| 8 | g.54628168A>C | CA370981867 | RP1 | c.4286A>C (p.Gln1429Pro) c.787+5880A>C (n.787+5880A>C) c.4307A>C (p.Gln1436Pro) | gnomAD v4 |
| 8 | g.54628168A>G | CA177181644 | RP1 | c.4286A>G (p.Gln1429Arg) c.787+5880A>G (n.787+5880A>G) c.4307A>G (p.Gln1436Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628168A>T | CA370981866 | RP1 | c.4286A>T (p.Gln1429Leu) c.787+5880A>T (n.787+5880A>T) c.4307A>T (p.Gln1436Leu) | |
| 8 | g.54628169G>A | CA461100050 | RP1 | c.4287G>A (p.Gln1429=) c.787+5881G>A (n.787+5881G>A) c.4308G>A (p.Gln1436=) | |
| 8 | g.54628169G>C | CA370981868 | RP1 | c.4287G>C (p.Gln1429His) c.787+5881G>C (n.787+5881G>C) c.4308G>C (p.Gln1436His) | |
| 8 | g.54628169G>T | CA370981869 | RP1 | c.4287G>T (p.Gln1429His) c.787+5881G>T (n.787+5881G>T) c.4308G>T (p.Gln1436His) | |
| 8 | g.54628170G>A | CA370981870 | RP1 | c.4288G>A (p.Asp1430Asn) c.787+5882G>A (n.787+5882G>A) c.4309G>A (p.Asp1437Asn) | COSMIC |
| 8 | g.54628170G>C | CA370981871 | RP1 | c.4288G>C (p.Asp1430His) c.787+5882G>C (n.787+5882G>C) c.4309G>C (p.Asp1437His) | |
| 8 | g.54628170G>T | CA370981872 | RP1 | c.4288G>T (p.Asp1430Tyr) c.787+5882G>T (n.787+5882G>T) c.4309G>T (p.Asp1437Tyr) | gnomAD v4 |
| 8 | g.54628171A>C | CA370981873 | RP1 | c.4289A>C (p.Asp1430Ala) c.787+5883A>C (n.787+5883A>C) c.4310A>C (p.Asp1437Ala) | |
| 8 | g.54628171A>G | CA370981874 | RP1 | c.4289A>G (p.Asp1430Gly) c.787+5883A>G (n.787+5883A>G) c.4310A>G (p.Asp1437Gly) | |
| 8 | g.54628171A>T | CA370981875 | RP1 | c.4289A>T (p.Asp1430Val) c.787+5883A>T (n.787+5883A>T) c.4310A>T (p.Asp1437Val) | |
| 8 | g.54628172T>A | CA370981876 | RP1 | c.4290T>A (p.Asp1430Glu) c.787+5884T>A (n.787+5884T>A) c.4311T>A (p.Asp1437Glu) | |
| 8 | g.54628172T>C | CA461100055 | RP1 | c.4290T>C (p.Asp1430=) c.787+5884T>C (n.787+5884T>C) c.4311T>C (p.Asp1437=) | |
| 8 | g.54628172T>G | CA370981877 | RP1 | c.4290T>G (p.Asp1430Glu) c.787+5884T>G (n.787+5884T>G) c.4311T>G (p.Asp1437Glu) | |
| 8 | g.54628173G>A | CA370981878 | RP1 | c.4291G>A (p.Glu1431Lys) c.787+5885G>A (n.787+5885G>A) c.4312G>A (p.Glu1438Lys) | COSMIC |
| 8 | g.54628173G>C | CA370981879 | RP1 | c.4291G>C (p.Glu1431Gln) c.787+5885G>C (n.787+5885G>C) c.4312G>C (p.Glu1438Gln) | |
| 8 | g.54628173G>T | CA370981880 | RP1 | c.4291G>T (p.Glu1431Ter) c.787+5885G>T (n.787+5885G>T) c.4312G>T (p.Glu1438Ter) | |
| 8 | g.54628174A>C | CA370981883 | RP1 | c.4292A>C (p.Glu1431Ala) c.787+5886A>C (n.787+5886A>C) c.4313A>C (p.Glu1438Ala) | |
| 8 | g.54628174A>G | CA370981882 | RP1 | c.4292A>G (p.Glu1431Gly) c.787+5886A>G (n.787+5886A>G) c.4313A>G (p.Glu1438Gly) | |
| 8 | g.54628174A>T | CA370981881 | RP1 | c.4292A>T (p.Glu1431Val) c.787+5886A>T (n.787+5886A>T) c.4313A>T (p.Glu1438Val) | |
| 8 | g.54628177dup | CA2579168463 | RP1 | c.4295dup (p.Asn1432LysfsTer7) c.787+5889dup (n.787+5889dup) c.4316dup (p.Asn1439LysfsTer7) | |
| 8 | g.54628175A>C | CA370981884 | RP1 | c.4293A>C (p.Glu1431Asp) c.787+5887A>C (n.787+5887A>C) c.4314A>C (p.Glu1438Asp) | |
| 8 | g.54628175A>G | CA461100060 | RP1 | c.4293A>G (p.Glu1431=) c.787+5887A>G (n.787+5887A>G) c.4314A>G (p.Glu1438=) | |
| 8 | g.54628175A>T | CA370981885 | RP1 | c.4293A>T (p.Glu1431Asp) c.787+5887A>T (n.787+5887A>T) c.4314A>T (p.Glu1438Asp) | |
| 8 | g.54628176A= | CA1785189065 | RP1 | c.4294A= (p.Asn1432=) c.787+5888A= (n.787+5888A=) c.4315A= (p.Asn1439=) | |
| 8 | g.54628176A>C | CA370981886 | RP1 | c.4294A>C (p.Asn1432His) c.787+5888A>C (n.787+5888A>C) c.4315A>C (p.Asn1439His) | |
| 8 | g.54628176A>G | CA4751838 | RP1 | c.4294A>G (p.Asn1432Asp) c.787+5888A>G (n.787+5888A>G) c.4315A>G (p.Asn1439Asp) | dbSNP ExAC |
| 8 | g.54628176A>T | CA370981887 | RP1 | c.4294A>T (p.Asn1432Tyr) c.787+5888A>T (n.787+5888A>T) c.4315A>T (p.Asn1439Tyr) | |
| 8 | g.54628177A= | CA1785189066 | RP1 | c.4295A= (p.Asn1432=) c.787+5889A= (n.787+5889A=) c.4316A= (p.Asn1439=) | |
| 8 | g.54628177A>C | CA370981888 | RP1 | c.4295A>C (p.Asn1432Thr) c.787+5889A>C (n.787+5889A>C) c.4316A>C (p.Asn1439Thr) | |
| 8 | g.54628177A>G | CA4751839 | RP1 | c.4295A>G (p.Asn1432Ser) c.787+5889A>G (n.787+5889A>G) c.4316A>G (p.Asn1439Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628177A>T | CA370981889 | RP1 | c.4295A>T (p.Asn1432Ile) c.787+5889A>T (n.787+5889A>T) c.4316A>T (p.Asn1439Ile) | |
| 8 | g.54628178T>A | CA4751840 | RP1 | c.4296T>A (p.Asn1432Lys) c.787+5890T>A (n.787+5890T>A) c.4317T>A (p.Asn1439Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.54628178T>C | CA461100068 | RP1 | c.4296T>C (p.Asn1432=) c.787+5890T>C (n.787+5890T>C) c.4317T>C (p.Asn1439=) | |
| 8 | g.54628178T>G | CA370981890 | RP1 | c.4296T>G (p.Asn1432Lys) c.787+5890T>G (n.787+5890T>G) c.4317T>G (p.Asn1439Lys) | |
| 8 | g.54628178T= | CA1785189067 | RP1 | c.4296T= (p.Asn1432=) c.787+5890T= (n.787+5890T=) c.4317T= (p.Asn1439=) | |
| 8 | g.54628179G>A | CA370981891 | RP1 | c.4297G>A (p.Ala1433Thr) c.787+5891G>A (n.787+5891G>A) c.4318G>A (p.Ala1440Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54628179G>C | CA370981892 | RP1 | c.4297G>C (p.Ala1433Pro) c.787+5891G>C (n.787+5891G>C) c.4318G>C (p.Ala1440Pro) | |
| 8 | g.54628179G= | CA1785189068 | RP1 | c.4297G= (p.Ala1433=) c.787+5891G= (n.787+5891G=) c.4318G= (p.Ala1440=) | |
| 8 | g.54628179G>T | CA370981893 | RP1 | c.4297G>T (p.Ala1433Ser) c.787+5891G>T (n.787+5891G>T) c.4318G>T (p.Ala1440Ser) | gnomAD v4 |
| 8 | g.54628180C>A | CA370981894 | RP1 | c.4298C>A (p.Ala1433Glu) c.787+5892C>A (n.787+5892C>A) c.4319C>A (p.Ala1440Glu) | |
| 8 | g.54628180C= | CA1785189069 | RP1 | c.4298C= (p.Ala1433=) c.787+5892C= (n.787+5892C=) c.4319C= (p.Ala1440=) | |
| 8 | g.54628180C>G | CA370981896 | RP1 | c.4298C>G (p.Ala1433Gly) c.787+5892C>G (n.787+5892C>G) c.4319C>G (p.Ala1440Gly) | |
| 8 | g.54628180C>T | CA370981895 | RP1 | c.4298C>T (p.Ala1433Val) c.787+5892C>T (n.787+5892C>T) c.4319C>T (p.Ala1440Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628181A= | CA1785189070 | RP1 | c.4299A= (p.Ala1433=) c.787+5893A= (n.787+5893A=) c.4320A= (p.Ala1440=) | |
| 8 | g.54628181A>C | CA461100074 | RP1 | c.4299A>C (p.Ala1433=) c.787+5893A>C (n.787+5893A>C) c.4320A>C (p.Ala1440=) | |
| 8 | g.54628181A>G | CA245310 | RP1 | c.4299A>G (p.Ala1433=) c.787+5893A>G (n.787+5893A>G) c.4320A>G (p.Ala1440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628181A>T | CA461100072 | RP1 | c.4299A>T (p.Ala1433=) c.787+5893A>T (n.787+5893A>T) c.4320A>T (p.Ala1440=) |