| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.10622700_10622701insCGTCTGCTGGAGGCGAGGGTCCAGGAGATCTGAGGCTTTGCCGAGAAAGGCGGCCAGGTTCCTAGTATTCCTGTGACTGAGAACCAC | CA580030539 | RP1L1 | c.567_568insGACCCTCGCCTCCAGCAGACGGTGGTTCTCAGTCACAGGAATACTAGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTG (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu) n.817_818insGACCCTCGCCTCCAGCAGACGGTGGTTCTCAGTCACAGGAATACTAGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTG | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622637_10622723dup | CA2580077999 | RP1L1 | c.481_567dup (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu) n.731_817dup | ClinVar |
| 8 | g.10622647G>A | CA459619902 | RP1L1 | c.555C>T (p.Ala185=) n.805C>T | gnomAD v4 |
| 8 | g.10622647G>C | CA459619903 | RP1L1 | c.555C>G (p.Ala185=) n.805C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622647G= | CA1763389552 | RP1L1 | c.555C= (p.Ala185=) n.805C= | |
| 8 | g.10622647G>T | CA459619905 | RP1L1 | c.555C>A (p.Ala185=) n.805C>A | |
| 8 | g.10622648G>A | CA4625646 | RP1L1 | c.554C>T (p.Ala185Val) n.804C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622648G>C | CA370299818 | RP1L1 | c.554C>G (p.Ala185Gly) n.804C>G | |
| 8 | g.10622648G= | CA1763389556 | RP1L1 | c.554C= (p.Ala185=) n.804C= | |
| 8 | g.10622648G>T | CA370299817 | RP1L1 | c.554C>A (p.Ala185Asp) n.804C>A | |
| 8 | g.10622649C>A | CA370299821 | RP1L1 | c.553G>T (p.Ala185Ser) n.803G>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622649C= | CA1763389558 | RP1L1 | c.553G= (p.Ala185=) n.803G= | |
| 8 | g.10622649C>G | CA370299820 | RP1L1 | c.553G>C (p.Ala185Pro) n.803G>C | |
| 8 | g.10622649C>T | CA171954612 | RP1L1 | c.553G>A (p.Ala185Thr) n.803G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622650T>A | CA370299822 | RP1L1 | c.552A>T (p.Lys184Asn) n.802A>T | |
| 8 | g.10622650T>C | CA459619912 | RP1L1 | c.552A>G (p.Lys184=) n.802A>G | |
| 8 | g.10622650T>G | CA370299823 | RP1L1 | c.552A>C (p.Lys184Asn) n.802A>C | |
| 8 | g.10622651T>A | CA370299825 | RP1L1 | c.551A>T (p.Lys184Ile) n.801A>T | |
| 8 | g.10622651T>C | CA370299827 | RP1L1 | c.551A>G (p.Lys184Arg) n.801A>G | |
| 8 | g.10622651T>G | CA370299829 | RP1L1 | c.551A>C (p.Lys184Thr) n.801A>C | |
| 8 | g.10622652T>A | CA370299831 | RP1L1 | c.550A>T (p.Lys184Ter) n.800A>T | |
| 8 | g.10622652T>C | CA370299833 | RP1L1 | c.550A>G (p.Lys184Glu) n.800A>G | |
| 8 | g.10622652T>G | CA370299835 | RP1L1 | c.550A>C (p.Lys184Gln) n.800A>C | |
| 8 | g.10622653G>A | CA4625647 | RP1L1 | c.549C>T (p.Gly183=) n.799C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622653G>C | CA171954614 | RP1L1 | c.549C>G (p.Gly183=) n.799C>G | dbSNP gnomAD v4 |
| 8 | g.10622653G= | CA1763389562 | RP1L1 | c.549C= (p.Gly183=) n.799C= | |
| 8 | g.10622653G>T | CA459620060 | RP1L1 | c.549C>A (p.Gly183=) n.799C>A | |
| 8 | g.10622654C>A | CA370299837 | RP1L1 | c.548G>T (p.Gly183Val) n.798G>T | ClinVar |
| 8 | g.10622654C>G | CA370299839 | RP1L1 | c.548G>C (p.Gly183Ala) n.798G>C | |
| 8 | g.10622654C>T | CA370299840 | RP1L1 | c.548G>A (p.Gly183Asp) n.798G>A | |
| 8 | g.10622655C>A | CA4625649 | RP1L1 | c.547G>T (p.Gly183Cys) n.797G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622655C= | CA1763389564 | RP1L1 | c.547G= (p.Gly183=) n.797G= | |
| 8 | g.10622655C>G | CA370299841 | RP1L1 | c.547G>C (p.Gly183Arg) n.797G>C | |
| 8 | g.10622655C>T | CA4625648 | RP1L1 | c.547G>A (p.Gly183Ser) n.797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622656G>A | CA4625650 | RP1L1 | c.546C>T (p.Leu182=) n.796C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622656G>C | CA459620064 | RP1L1 | c.546C>G (p.Leu182=) n.796C>G | |
| 8 | g.10622656G= | CA1763389566 | RP1L1 | c.546C= (p.Leu182=) n.796C= | |
| 8 | g.10622656G>T | CA459620066 | RP1L1 | c.546C>A (p.Leu182=) n.796C>A | gnomAD v4 |
| 8 | g.10622657A= | CA1763389568 | RP1L1 | c.545T= (p.Leu182=) n.795T= | |
| 8 | g.10622657A>C | CA370299845 | RP1L1 | c.545T>G (p.Leu182Arg) n.795T>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622657A>G | CA370299846 | RP1L1 | c.545T>C (p.Leu182Pro) n.795T>C | |
| 8 | g.10622657A>T | CA370299847 | RP1L1 | c.545T>A (p.Leu182His) n.795T>A | |
| 8 | g.10622659_10622670del | CA2695208894 | RP1L1 | c.534_545del (p.Ala179_Leu182del) n.784_795del | |
| 8 | g.10622658G>A | CA370299848 | RP1L1 | c.544C>T (p.Leu182Phe) n.794C>T | |
| 8 | g.10622658G>C | CA370299849 | RP1L1 | c.544C>G (p.Leu182Val) n.794C>G | |
| 8 | g.10622658G>T | CA370299850 | RP1L1 | c.544C>A (p.Leu182Ile) n.794C>A | gnomAD v4 |
| 8 | g.10622659A>C | CA370299851 | RP1L1 | c.543T>G (p.Phe181Leu) n.793T>G | |
| 8 | g.10622659A>G | CA459620071 | RP1L1 | c.543T>C (p.Phe181=) n.793T>C | gnomAD v4 |
| 8 | g.10622659A>T | CA370299852 | RP1L1 | c.543T>A (p.Phe181Leu) n.793T>A | |
| 8 | g.10622661dup | CA2579091970 | RP1L1 | c.543dup (p.Leu182SerfsTer?) n.793dup | |
| 8 | g.10622660A= | CA1763389570 | RP1L1 | c.542T= (p.Phe181=) n.792T= | |
| 8 | g.10622660A>C | CA370299854 | RP1L1 | c.542T>G (p.Phe181Cys) n.792T>G | |
| 8 | g.10622660A>G | CA370299855 | RP1L1 | c.542T>C (p.Phe181Ser) n.792T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622660A>T | CA370299857 | RP1L1 | c.542T>A (p.Phe181Tyr) n.792T>A | |
| 8 | g.10622661A= | CA1763389571 | RP1L1 | c.541T= (p.Phe181=) n.791T= | |
| 8 | g.10622661A>C | CA370299860 | RP1L1 | c.541T>G (p.Phe181Val) n.791T>G | |
| 8 | g.10622661A>G | CA370299859 | RP1L1 | c.541T>C (p.Phe181Leu) n.791T>C | |
| 8 | g.10622661A>T | CA4625651 | RP1L1 | c.541T>A (p.Phe181Ile) n.791T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622662G>A | CA4625652 | RP1L1 | c.540C>T (p.Ala180=) n.790C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622662G>C | CA459620076 | RP1L1 | c.540C>G (p.Ala180=) n.790C>G | |
| 8 | g.10622662G= | CA1763389575 | RP1L1 | c.540C= (p.Ala180=) n.790C= | |
| 8 | g.10622662G>T | CA459620078 | RP1L1 | c.540C>A (p.Ala180=) n.790C>A | |
| 8 | g.10622663G>A | CA370299862 | RP1L1 | c.539C>T (p.Ala180Val) n.789C>T | ClinVar gnomAD v4 |
| 8 | g.10622663G>C | CA370299864 | RP1L1 | c.539C>G (p.Ala180Gly) n.789C>G | |
| 8 | g.10622663G>T | CA370299865 | RP1L1 | c.539C>A (p.Ala180Asp) n.789C>A | |
| 8 | g.10622664C>A | CA4625654 | RP1L1 | c.538G>T (p.Ala180Ser) n.788G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622664C= | CA1763389579 | RP1L1 | c.538G= (p.Ala180=) n.788G= | |
| 8 | g.10622664C>G | CA370299868 | RP1L1 | c.538G>C (p.Ala180Pro) n.788G>C | gnomAD v4 |
| 8 | g.10622664C>T | CA4625653 | RP1L1 | c.538G>A (p.Ala180Thr) n.788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622665G>A | CA4625655 | RP1L1 | c.537C>T (p.Ala179=) n.787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622665G>C | CA459620079 | RP1L1 | c.537C>G (p.Ala179=) n.787C>G | ClinVar gnomAD v4 |
| 8 | g.10622665G= | CA1763389582 | RP1L1 | c.537C= (p.Ala179=) n.787C= | |
| 8 | g.10622665G>T | CA459620080 | RP1L1 | c.537C>A (p.Ala179=) n.787C>A | COSMIC |
| 8 | g.10622666G>A | CA370299872 | RP1L1 | c.536C>T (p.Ala179Val) n.786C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10622666G>C | CA370299874 | RP1L1 | c.536C>G (p.Ala179Gly) n.786C>G | |
| 8 | g.10622666G= | CA1763389585 | RP1L1 | c.536C= (p.Ala179=) n.786C= | |
| 8 | g.10622666G>T | CA370299873 | RP1L1 | c.536C>A (p.Ala179Asp) n.786C>A | |
| 8 | g.10622667C>A | CA370299876 | RP1L1 | c.535G>T (p.Ala179Ser) n.785G>T | |
| 8 | g.10622667C= | CA1763389586 | RP1L1 | c.535G= (p.Ala179=) n.785G= | |
| 8 | g.10622667C>G | CA370299877 | RP1L1 | c.535G>C (p.Ala179Pro) n.785G>C | |
| 8 | g.10622667C>T | CA370299878 | RP1L1 | c.535G>A (p.Ala179Thr) n.785G>A | dbSNP gnomAD v4 |
| 8 | g.10622668C>A | CA171954626 | RP1L1 | c.534G>T (p.Leu178=) n.784G>T | dbSNP |
| 8 | g.10622668C= | CA1763389590 | RP1L1 | c.534G= (p.Leu178=) n.784G= | |
| 8 | g.10622668C>G | CA459620082 | RP1L1 | c.534G>C (p.Leu178=) n.784G>C | dbSNP |
| 8 | g.10622668C>T | CA459620083 | RP1L1 | c.534G>A (p.Leu178=) n.784G>A | gnomAD v4 |
| 8 | g.10622669A= | CA1763389593 | RP1L1 | c.533T= (p.Leu178=) n.783T= | |
| 8 | g.10622669A>C | CA370299881 | RP1L1 | c.533T>G (p.Leu178Arg) n.783T>G | |
| 8 | g.10622669A>G | CA370299883 | RP1L1 | c.533T>C (p.Leu178Pro) n.783T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622669A>T | CA370299882 | RP1L1 | c.533T>A (p.Leu178Gln) n.783T>A | |
| 8 | g.10622670G>A | CA459620086 | RP1L1 | c.532C>T (p.Leu178=) n.782C>T | |
| 8 | g.10622670G>C | CA4625656 | RP1L1 | c.532C>G (p.Leu178Val) n.782C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622670G= | CA1763389597 | RP1L1 | c.532C= (p.Leu178=) n.782C= | |
| 8 | g.10622670G>T | CA370299885 | RP1L1 | c.532C>A (p.Leu178Met) n.782C>A | |
| 8 | g.10622671G>A | CA459620088 | RP1L1 | c.531C>T (p.Asn177=) n.781C>T | |
| 8 | g.10622671G>C | CA370299887 | RP1L1 | c.531C>G (p.Asn177Lys) n.781C>G | |
| 8 | g.10622671G>T | CA370299888 | RP1L1 | c.531C>A (p.Asn177Lys) n.781C>A | gnomAD v4 |
| 8 | g.10622672T>A | CA370299890 | RP1L1 | c.530A>T (p.Asn177Ile) n.780A>T | |
| 8 | g.10622672T>C | CA370299891 | RP1L1 | c.530A>G (p.Asn177Ser) n.780A>G | gnomAD v4 |
| 8 | g.10622672T>G | CA370299892 | RP1L1 | c.530A>C (p.Asn177Thr) n.780A>C | |
| 8 | g.10622673T>A | CA171954628 | RP1L1 | c.529A>T (p.Asn177Tyr) n.779A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622673T>C | CA370299895 | RP1L1 | c.529A>G (p.Asn177Asp) n.779A>G | |
| 8 | g.10622673T>G | CA370299896 | RP1L1 | c.529A>C (p.Asn177His) n.779A>C | |
| 8 | g.10622673T= | CA1763389600 | RP1L1 | c.529A= (p.Asn177=) n.779A= | |
| 8 | g.10622674C>A | CA171954630 | RP1L1 | c.528G>T (p.Arg176Ser) n.778G>T | dbSNP |
| 8 | g.10622674C= | CA1763389602 | RP1L1 | c.528G= (p.Arg176=) n.778G= | |
| 8 | g.10622674C>G | CA370299898 | RP1L1 | c.528G>C (p.Arg176Ser) n.778G>C | ClinVar |
| 8 | g.10622674C>T | CA459620090 | RP1L1 | c.528G>A (p.Arg176=) n.778G>A | |
| 8 | g.10622675C>A | CA370299902 | RP1L1 | c.527G>T (p.Arg176Met) n.777G>T | |
| 8 | g.10622675C= | CA1763389607 | RP1L1 | c.527G= (p.Arg176=) n.777G= | |
| 8 | g.10622675C>G | CA370299901 | RP1L1 | c.527G>C (p.Arg176Thr) n.777G>C | |
| 8 | g.10622675C>T | CA370299899 | RP1L1 | c.527G>A (p.Arg176Lys) n.777G>A | dbSNP |
| 8 | g.10622676T>A | CA370299904 | RP1L1 | c.526A>T (p.Arg176Trp) n.776A>T | |
| 8 | g.10622676T>C | CA4625657 | RP1L1 | c.526A>G (p.Arg176Gly) n.776A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622676T>G | CA459620093 | RP1L1 | c.526A>C (p.Arg176=) n.776A>C | |
| 8 | g.10622676T= | CA1763389610 | RP1L1 | c.526A= (p.Arg176=) n.776A= | |
| 8 | g.10622677A= | CA1763389611 | RP1L1 | c.525T= (p.Thr175=) n.775T= | |
| 8 | g.10622677A>C | CA459620095 | RP1L1 | c.525T>G (p.Thr175=) n.775T>G | gnomAD v4 |
| 8 | g.10622677A>G | CA4625658 | RP1L1 | c.525T>C (p.Thr175=) n.775T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622677A>T | CA459620096 | RP1L1 | c.525T>A (p.Thr175=) n.775T>A | |
| 8 | g.10622678G>A | CA370299906 | RP1L1 | c.524C>T (p.Thr175Ile) n.774C>T | |
| 8 | g.10622678G>C | CA171954636 | RP1L1 | c.524C>G (p.Thr175Ser) n.774C>G | dbSNP gnomAD v4 |
| 8 | g.10622678G= | CA1763389612 | RP1L1 | c.524C= (p.Thr175=) n.774C= | |
| 8 | g.10622678G>T | CA370299908 | RP1L1 | c.524C>A (p.Thr175Asn) n.774C>A | |
| 8 | g.10622679T>A | CA370299910 | RP1L1 | c.523A>T (p.Thr175Ser) n.773A>T | gnomAD v4 |
| 8 | g.10622679T>C | CA4625659 | RP1L1 | c.523A>G (p.Thr175Ala) n.773A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622679T>G | CA370299909 | RP1L1 | c.523A>C (p.Thr175Pro) n.773A>C | gnomAD v4 |
| 8 | g.10622679T= | CA1763389616 | RP1L1 | c.523A= (p.Thr175=) n.773A= | |
| 8 | g.10622680A= | CA1763389617 | RP1L1 | c.522T= (p.Asn174=) n.772T= | |
| 8 | g.10622680A>C | CA370299912 | RP1L1 | c.522T>G (p.Asn174Lys) n.772T>G | |
| 8 | g.10622680A>G | CA4625660 | RP1L1 | c.522T>C (p.Asn174=) n.772T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622680A>T | CA370299914 | RP1L1 | c.522T>A (p.Asn174Lys) n.772T>A | |
| 8 | g.10622681T>A | CA370299915 | RP1L1 | c.521A>T (p.Asn174Ile) n.771A>T | |
| 8 | g.10622681T>C | CA370299917 | RP1L1 | c.521A>G (p.Asn174Ser) n.771A>G | |
| 8 | g.10622681T>G | CA370299918 | RP1L1 | c.521A>C (p.Asn174Thr) n.771A>C | gnomAD v4 |
| 8 | g.10622682T>A | CA370299919 | RP1L1 | c.520A>T (p.Asn174Tyr) n.770A>T | |
| 8 | g.10622682T>C | CA370299921 | RP1L1 | c.520A>G (p.Asn174Asp) n.770A>G | |
| 8 | g.10622682T>G | CA4625661 | RP1L1 | c.520A>C (p.Asn174His) n.770A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622682T= | CA1763389622 | RP1L1 | c.520A= (p.Asn174=) n.770A= | |
| 8 | g.10622683C>A | CA370299922 | RP1L1 | c.519G>T (p.Arg173Ser) n.769G>T | |
| 8 | g.10622683C>G | CA370299923 | RP1L1 | c.519G>C (p.Arg173Ser) n.769G>C | |
| 8 | g.10622683C>T | CA459620101 | RP1L1 | c.519G>A (p.Arg173=) n.769G>A | |
| 8 | g.10622684dup | CA1763389625 | RP1L1 | c.519dup (p.Asn174GlufsTer3) n.769dup | dbSNP gnomAD v4 |
| 8 | g.10622684C>A | CA370299925 | RP1L1 | c.518G>T (p.Arg173Met) n.768G>T | |
| 8 | g.10622684C= | CA1763389626 | RP1L1 | c.518G= (p.Arg173=) n.768G= | |
| 8 | g.10622684C>G | CA4625662 | RP1L1 | c.518G>C (p.Arg173Thr) n.768G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622684C>T | CA370299927 | RP1L1 | c.518G>A (p.Arg173Lys) n.768G>A | |
| 8 | g.10622685T>A | CA370299929 | RP1L1 | c.517A>T (p.Arg173Trp) n.767A>T | |
| 8 | g.10622685T>C | CA370299930 | RP1L1 | c.517A>G (p.Arg173Gly) n.767A>G | |
| 8 | g.10622685T>G | CA459620103 | RP1L1 | c.517A>C (p.Arg173=) n.767A>C | |
| 8 | g.10622686del | CA2686114418 | RP1L1 | c.516del (p.His172GlnfsTer22) n.766del | gnomAD v4 |
| 8 | g.10622686G>A | CA459620104 | RP1L1 | c.516C>T (p.His172=) n.766C>T | |
| 8 | g.10622686G>C | CA370299932 | RP1L1 | c.516C>G (p.His172Gln) n.766C>G | |
| 8 | g.10622686G>T | CA370299933 | RP1L1 | c.516C>A (p.His172Gln) n.766C>A | |
| 8 | g.10622687T>A | CA370299935 | RP1L1 | c.515A>T (p.His172Leu) n.765A>T | |
| 8 | g.10622687T>C | CA370299936 | RP1L1 | c.515A>G (p.His172Arg) n.765A>G | dbSNP |
| 8 | g.10622687T>G | CA370299937 | RP1L1 | c.515A>C (p.His172Pro) n.765A>C | |
| 8 | g.10622687T= | CA1763389628 | RP1L1 | c.515A= (p.His172=) n.765A= | |
| 8 | g.10622688G>A | CA370299942 | RP1L1 | c.514C>T (p.His172Tyr) n.764C>T | |
| 8 | g.10622688G>C | CA370299939 | RP1L1 | c.514C>G (p.His172Asp) n.764C>G | |
| 8 | g.10622688G>T | CA370299940 | RP1L1 | c.514C>A (p.His172Asn) n.764C>A | |
| 8 | g.10622689A= | CA1763389631 | RP1L1 | c.513T= (p.Ser171=) n.763T= | |
| 8 | g.10622689A>C | CA370299943 | RP1L1 | c.513T>G (p.Ser171Arg) n.763T>G | |
| 8 | g.10622689A>G | CA459620106 | RP1L1 | c.513T>C (p.Ser171=) n.763T>C | dbSNP gnomAD v4 |
| 8 | g.10622689A>T | CA370299945 | RP1L1 | c.513T>A (p.Ser171Arg) n.763T>A | dbSNP gnomAD v2 |
| 8 | g.10622690C>A | CA370299946 | RP1L1 | c.512G>T (p.Ser171Ile) n.762G>T | |
| 8 | g.10622690C= | CA1763389635 | RP1L1 | c.512G= (p.Ser171=) n.762G= | |
| 8 | g.10622690C>G | CA370299947 | RP1L1 | c.512G>C (p.Ser171Thr) n.762G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622690C>T | CA171954641 | RP1L1 | c.512G>A (p.Ser171Asn) n.762G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622691T>A | CA370299950 | RP1L1 | c.511A>T (p.Ser171Cys) n.761A>T | COSMIC |
| 8 | g.10622691T>C | CA370299951 | RP1L1 | c.511A>G (p.Ser171Gly) n.761A>G | |
| 8 | g.10622691T>G | CA370299952 | RP1L1 | c.511A>C (p.Ser171Arg) n.761A>C | |
| 8 | g.10622691dup | CA1763389637 | RP1L1 | c.511dup (p.Ser171LysfsTer6) n.761dup | dbSNP |
| 8 | g.10622692G>A | CA4625663 | RP1L1 | c.510C>T (p.Leu170=) n.760C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622692G>C | CA459620110 | RP1L1 | c.510C>G (p.Leu170=) n.760C>G | |
| 8 | g.10622692G= | CA1763389640 | RP1L1 | c.510C= (p.Leu170=) n.760C= | |
| 8 | g.10622692G>T | CA459620111 | RP1L1 | c.510C>A (p.Leu170=) n.760C>A | |
| 8 | g.10622693A>C | CA370299954 | RP1L1 | c.509T>G (p.Leu170Arg) n.759T>G | |
| 8 | g.10622693A>G | CA370299956 | RP1L1 | c.509T>C (p.Leu170Pro) n.759T>C | |
| 8 | g.10622693A>T | CA370299957 | RP1L1 | c.509T>A (p.Leu170His) n.759T>A | |
| 8 | g.10622693_10622696del | CA2686114422 | RP1L1 | c.506_509del (p.Val169AlafsTer24) n.756_759del | gnomAD v4 |
| 8 | g.10622694G>A | CA370299961 | RP1L1 | c.508C>T (p.Leu170Phe) n.758C>T | gnomAD v4 |
| 8 | g.10622694G>C | CA370299960 | RP1L1 | c.508C>G (p.Leu170Val) n.758C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622694G= | CA1763389641 | RP1L1 | c.508C= (p.Leu170=) n.758C= | |
| 8 | g.10622694G>T | CA370299959 | RP1L1 | c.508C>A (p.Leu170Ile) n.758C>A | |
| 8 | g.10622695A= | CA1763389645 | RP1L1 | c.507T= (p.Val169=) n.757T= | |
| 8 | g.10622695A>C | CA459620112 | RP1L1 | c.507T>G (p.Val169=) n.757T>G | |
| 8 | g.10622695A>G | CA459620114 | RP1L1 | c.507T>C (p.Val169=) n.757T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622695A>T | CA459620113 | RP1L1 | c.507T>A (p.Val169=) n.757T>A | |
| 8 | g.10622696A= | CA1763389647 | RP1L1 | c.506T= (p.Val169=) n.756T= | |
| 8 | g.10622696A>C | CA370299962 | RP1L1 | c.506T>G (p.Val169Gly) n.756T>G | |
| 8 | g.10622696A>G | CA4625664 | RP1L1 | c.506T>C (p.Val169Ala) n.756T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622696A>T | CA370299964 | RP1L1 | c.506T>A (p.Val169Asp) n.756T>A | |
| 8 | g.10622697C>A | CA370299966 | RP1L1 | c.505G>T (p.Val169Phe) n.755G>T | |
| 8 | g.10622697C>G | CA370299967 | RP1L1 | c.505G>C (p.Val169Leu) n.755G>C | gnomAD v4 |
| 8 | g.10622697C>T | CA370299968 | RP1L1 | c.505G>A (p.Val169Ile) n.755G>A | ClinVar gnomAD v4 |
| 8 | g.10622698C>A | CA459620118 | RP1L1 | c.504G>T (p.Val168=) n.754G>T | gnomAD v4 COSMIC |
| 8 | g.10622698C>G | CA459620119 | RP1L1 | c.504G>C (p.Val168=) n.754G>C | gnomAD v4 |
| 8 | g.10622698C>T | CA459620120 | RP1L1 | c.504G>A (p.Val168=) n.754G>A | gnomAD v4 |
| 8 | g.10622699A= | CA1763389650 | RP1L1 | c.503T= (p.Val168=) n.753T= | |
| 8 | g.10622699A>C | CA370299969 | RP1L1 | c.503T>G (p.Val168Gly) n.753T>G | dbSNP |
| 8 | g.10622699A>G | CA370299970 | RP1L1 | c.503T>C (p.Val168Ala) n.753T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622699A>T | CA370299972 | RP1L1 | c.503T>A (p.Val168Glu) n.753T>A | |
| 8 | g.10622699_10622703delinsACTGT | CA1763389651 | RP1L1 | c.499_503delinsACAGT (p.Thr167=) n.749_753delinsACAGT | |
| 8 | g.10622700C>A | CA370299973 | RP1L1 | c.502G>T (p.Val168Leu) n.752G>T | |
| 8 | g.10622700C= | CA1763389657 | RP1L1 | c.502G= (p.Val168=) n.752G= | |
| 8 | g.10622700C>G | CA370299974 | RP1L1 | c.502G>C (p.Val168Leu) n.752G>C | |
| 8 | g.10622700C>T | CA370299975 | RP1L1 | c.502G>A (p.Val168Met) n.752G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622703_10622706del | CA580030558 | RP1L1 | c.499_502del (p.Thr167TrpfsTer26) n.749_752del | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622701T>A | CA459620125 | RP1L1 | c.501A>T (p.Thr167=) n.751A>T | ClinVar |
| 8 | g.10622701T>C | CA4625665 | RP1L1 | c.501A>G (p.Thr167=) n.751A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622701T>G | CA459620126 | RP1L1 | c.501A>C (p.Thr167=) n.751A>C | dbSNP gnomAD v4 |
| 8 | g.10622701T= | CA1763389661 | RP1L1 | c.501A= (p.Thr167=) n.751A= | |
| 8 | g.10622702G>A | CA370299978 | RP1L1 | c.500C>T (p.Thr167Ile) n.750C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622702G>C | CA370299979 | RP1L1 | c.500C>G (p.Thr167Arg) n.750C>G | gnomAD v4 |
| 8 | g.10622702G= | CA1763389662 | RP1L1 | c.500C= (p.Thr167=) n.750C= | |
| 8 | g.10622702G>T | CA4625666 | RP1L1 | c.500C>A (p.Thr167Lys) n.750C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622703T>A | CA370299981 | RP1L1 | c.499A>T (p.Thr167Ser) n.749A>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622703T>C | CA4625667 | RP1L1 | c.499A>G (p.Thr167Ala) n.749A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622703T>G | CA370299982 | RP1L1 | c.499A>C (p.Thr167Pro) n.749A>C | |
| 8 | g.10622703T= | CA1763389667 | RP1L1 | c.499A= (p.Thr167=) n.749A= | |
| 8 | g.10622704C>A | CA370299984 | RP1L1 | c.498G>T (p.Gln166His) n.748G>T | |
| 8 | g.10622704C= | CA1763389669 | RP1L1 | c.498G= (p.Gln166=) n.748G= | |
| 8 | g.10622704C>G | CA370299985 | RP1L1 | c.498G>C (p.Gln166His) n.748G>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622704C>T | CA459620133 | RP1L1 | c.498G>A (p.Gln166=) n.748G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.10622705T>A | CA4625668 | RP1L1 | c.497A>T (p.Gln166Leu) n.747A>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.10622705T>C | CA4625669 | RP1L1 | c.497A>G (p.Gln166Arg) n.747A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622705T>G | CA370299988 | RP1L1 | c.497A>C (p.Gln166Pro) n.747A>C | |
| 8 | g.10622705T= | CA1763389671 | RP1L1 | c.497A= (p.Gln166=) n.747A= | |
| 8 | g.10622706G>A | CA370299989 | RP1L1 | c.496C>T (p.Gln166Ter) n.746C>T | |
| 8 | g.10622706G>C | CA370299991 | RP1L1 | c.496C>G (p.Gln166Glu) n.746C>G | ClinVar dbSNP |
| 8 | g.10622706G= | CA1763389672 | RP1L1 | c.496C= (p.Gln166=) n.746C= | |
| 8 | g.10622706G>T | CA370299993 | RP1L1 | c.496C>A (p.Gln166Lys) n.746C>A | gnomAD v4 |
| 8 | g.10622707C>A | CA370299994 | RP1L1 | c.495G>T (p.Gln165His) n.745G>T | COSMIC |
| 8 | g.10622707C>G | CA370299996 | RP1L1 | c.495G>C (p.Gln165His) n.745G>C | |
| 8 | g.10622707C>T | CA459620136 | RP1L1 | c.495G>A (p.Gln165=) n.745G>A | gnomAD v4 |
| 8 | g.10622708T>A | CA370299997 | RP1L1 | c.494A>T (p.Gln165Leu) n.744A>T | |
| 8 | g.10622708T>C | CA4625670 | RP1L1 | c.494A>G (p.Gln165Arg) n.744A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622708T>G | CA4625671 | RP1L1 | c.494A>C (p.Gln165Pro) n.744A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622708T= | CA1763389674 | RP1L1 | c.494A= (p.Gln165=) n.744A= | |
| 8 | g.10622709G>A | CA370300002 | RP1L1 | c.493C>T (p.Gln165Ter) n.743C>T | gnomAD v4 |
| 8 | g.10622709G>C | CA370300000 | RP1L1 | c.493C>G (p.Gln165Glu) n.743C>G | |
| 8 | g.10622709G>T | CA370299999 | RP1L1 | c.493C>A (p.Gln165Lys) n.743C>A | |
| 8 | g.10622710G>A | CA459620138 | RP1L1 | c.492C>T (p.Leu164=) n.742C>T | COSMIC |
| 8 | g.10622710G>C | CA4625672 | RP1L1 | c.492C>G (p.Leu164=) n.742C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622710G= | CA1763389679 | RP1L1 | c.492C= (p.Leu164=) n.742C= | |
| 8 | g.10622710G>T | CA459620139 | RP1L1 | c.492C>A (p.Leu164=) n.742C>A | |
| 8 | g.10622711A>C | CA370300004 | RP1L1 | c.491T>G (p.Leu164Arg) n.741T>G | |
| 8 | g.10622711A>G | CA370300006 | RP1L1 | c.491T>C (p.Leu164Pro) n.741T>C | gnomAD v4 |
| 8 | g.10622711A>T | CA370300007 | RP1L1 | c.491T>A (p.Leu164His) n.741T>A | gnomAD v4 |
| 8 | g.10622712G>A | CA370300008 | RP1L1 | c.490C>T (p.Leu164Phe) n.740C>T | |
| 8 | g.10622712G>C | CA370300010 | RP1L1 | c.490C>G (p.Leu164Val) n.740C>G | |
| 8 | g.10622712G>T | CA370300012 | RP1L1 | c.490C>A (p.Leu164Ile) n.740C>A | |
| 8 | g.10622713G>A | CA4625674 | RP1L1 | c.489C>T (p.Arg163=) n.739C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622713G>C | CA459620142 | RP1L1 | c.489C>G (p.Arg163=) n.739C>G | |
| 8 | g.10622713G= | CA1763389683 | RP1L1 | c.489C= (p.Arg163=) n.739C= | |
| 8 | g.10622713G>T | CA4625673 | RP1L1 | c.489C>A (p.Arg163=) n.739C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622714C>A | CA370300014 | RP1L1 | c.488G>T (p.Arg163Leu) n.738G>T | |
| 8 | g.10622714C= | CA1763389690 | RP1L1 | c.488G= (p.Arg163=) n.738G= | |
| 8 | g.10622714C>G | CA370300016 | RP1L1 | c.488G>C (p.Arg163Pro) n.738G>C | |
| 8 | g.10622714C>T | CA4625675 | RP1L1 | c.488G>A (p.Arg163His) n.738G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622715G>A | CA4625677 | RP1L1 | c.487C>T (p.Arg163Cys) n.737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622715G>C | CA4625676 | RP1L1 | c.487C>G (p.Arg163Gly) n.737C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622715G= | CA1763389696 | RP1L1 | c.487C= (p.Arg163=) n.737C= | |
| 8 | g.10622715G>T | CA370300018 | RP1L1 | c.487C>A (p.Arg163Ser) n.737C>A | |
| 8 | g.10622716A= | CA1763389698 | RP1L1 | c.486T= (p.Pro162=) n.736T= | |
| 8 | g.10622716A>C | CA459620146 | RP1L1 | c.486T>G (p.Pro162=) n.736T>G | |
| 8 | g.10622716A>G | CA4625678 | RP1L1 | c.486T>C (p.Pro162=) n.736T>C | dbSNP ExAC gnomAD v2 |
| 8 | g.10622716A>T | CA459620144 | RP1L1 | c.486T>A (p.Pro162=) n.736T>A | |
| 8 | g.10622717G>A | CA370300022 | RP1L1 | c.485C>T (p.Pro162Leu) n.735C>T | |
| 8 | g.10622717G>C | CA4625679 | RP1L1 | c.485C>G (p.Pro162Arg) n.735C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622717G= | CA1763389703 | RP1L1 | c.485C= (p.Pro162=) n.735C= | |
| 8 | g.10622717G>T | CA370300024 | RP1L1 | c.485C>A (p.Pro162His) n.735C>A | |
| 8 | g.10622719del | CA2739290045 | RP1L1 | c.485del (p.Pro162LeufsTer?) n.735del | |
| 8 | g.10622718G>A | CA370300025 | RP1L1 | c.484C>T (p.Pro162Ser) n.734C>T | ClinVar gnomAD v4 |
| 8 | g.10622718G>C | CA370300026 | RP1L1 | c.484C>G (p.Pro162Ala) n.734C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622718G= | CA1763389705 | RP1L1 | c.484C= (p.Pro162=) n.734C= | |
| 8 | g.10622718G>T | CA4625680 | RP1L1 | c.484C>A (p.Pro162Thr) n.734C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622719G>A | CA459620147 | RP1L1 | c.483C>T (p.Asp161=) n.733C>T | dbSNP gnomAD v4 |
| 8 | g.10622719G>C | CA370300027 | RP1L1 | c.483C>G (p.Asp161Glu) n.733C>G | |
| 8 | g.10622719G= | CA1763389707 | RP1L1 | c.483C= (p.Asp161=) n.733C= | |
| 8 | g.10622719G>T | CA370300028 | RP1L1 | c.483C>A (p.Asp161Glu) n.733C>A | dbSNP |
| 8 | g.10622720T>A | CA370300029 | RP1L1 | c.482A>T (p.Asp161Val) n.732A>T | |
| 8 | g.10622720T>C | CA171954662 | RP1L1 | c.482A>G (p.Asp161Gly) n.732A>G | dbSNP gnomAD v4 |
| 8 | g.10622720T>G | CA370300031 | RP1L1 | c.482A>C (p.Asp161Ala) n.732A>C | dbSNP |
| 8 | g.10622720T= | CA1763389708 | RP1L1 | c.482A= (p.Asp161=) n.732A= | |
| 8 | g.10622721C>A | CA370300035 | RP1L1 | c.481G>T (p.Asp161Tyr) n.731G>T | |
| 8 | g.10622721C>G | CA370300034 | RP1L1 | c.481G>C (p.Asp161His) n.731G>C | gnomAD v4 |
| 8 | g.10622721C>T | CA370300033 | RP1L1 | c.481G>A (p.Asp161Asn) n.731G>A | gnomAD v4 |
| 8 | g.10622722C>A | CA171954664 | RP1L1 | c.480G>T (p.Met160Ile) n.730G>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622722C= | CA1763389709 | RP1L1 | c.480G= (p.Met160=) n.730G= | |
| 8 | g.10622722C>G | CA370300038 | RP1L1 | c.480G>C (p.Met160Ile) n.730G>C | |
| 8 | g.10622722C>T | CA370300039 | RP1L1 | c.480G>A (p.Met160Ile) n.730G>A | |
| 8 | g.10622722_10622723del | CA2779033562 | RP1L1 | c.479_480del (p.Met160ArgfsTer16) n.729_730del | |
| 8 | g.10622723A= | CA1763389712 | RP1L1 | c.479T= (p.Met160=) n.729T= | |
| 8 | g.10622723A>C | CA370300040 | RP1L1 | c.479T>G (p.Met160Arg) n.729T>G | |
| 8 | g.10622723A>G | CA370300041 | RP1L1 | c.479T>C (p.Met160Thr) n.729T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622723A>T | CA370300042 | RP1L1 | c.479T>A (p.Met160Lys) n.729T>A | |
| 8 | g.10622723_10622724insGGAGA | CA2686114438 | RP1L1 | c.479_480insCTCCT (p.Met160IlefsTer?) n.729_730insCTCCT | gnomAD v4 |
| 8 | g.10622723_10622724insGGAGATCTGAGGCTTTGCCGAGAAA | CA2686114439 | RP1L1 | c.479_480insTTCTCGGCAAAGCCTCAGATCTCCT (p.Met160IlefsTer25) n.729_730insTTCTCGGCAAAGCCTCAGATCTCCT | gnomAD v4 |
| 8 | g.10622724T>A | CA370300043 | RP1L1 | c.478A>T (p.Met160Leu) n.728A>T | |
| 8 | g.10622724T>C | CA4625681 | RP1L1 | c.478A>G (p.Met160Val) n.728A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622724T>G | CA370300045 | RP1L1 | c.478A>C (p.Met160Leu) n.728A>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622724T= | CA1763389713 | RP1L1 | c.478A= (p.Met160=) n.728A= | |
| 8 | g.10622724_10622725insCTGAGGCTTTGCCGAGAAAGGCGGCCAG | CA2686114443 | RP1L1 | c.477_478insCTGGCCGCCTTTCTCGGCAAAGCCTCAG (p.Met160LeufsTer26) n.727_728insCTGGCCGCCTTTCTCGGCAAAGCCTCAG | gnomAD v4 |
| 8 | g.10622725G>A | CA4625684 | RP1L1 | c.477C>T (p.Asn159=) n.727C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622725G>C | CA4625683 | RP1L1 | c.477C>G (p.Asn159Lys) n.727C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622725G= | CA1763389718 | RP1L1 | c.477C= (p.Asn159=) n.727C= | |
| 8 | g.10622725G>T | CA4625682 | RP1L1 | c.477C>A (p.Asn159Lys) n.727C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622726T>A | CA370300050 | RP1L1 | c.476A>T (p.Asn159Ile) n.726A>T | |
| 8 | g.10622726T>C | CA370300049 | RP1L1 | c.476A>G (p.Asn159Ser) n.726A>G | ClinVar gnomAD v4 |
| 8 | g.10622726T>G | CA370300048 | RP1L1 | c.476A>C (p.Asn159Thr) n.726A>C | |
| 8 | g.10622727T>A | CA4625685 | RP1L1 | c.475A>T (p.Asn159Tyr) n.725A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622727T>C | CA370300052 | RP1L1 | c.475A>G (p.Asn159Asp) n.725A>G | |
| 8 | g.10622727T>G | CA370300053 | RP1L1 | c.475A>C (p.Asn159His) n.725A>C | |
| 8 | g.10622727T= | CA1763389721 | RP1L1 | c.475A= (p.Asn159=) n.725A= | |
| 8 | g.10622728C>A | CA370300055 | RP1L1 | c.474G>T (p.Lys158Asn) n.724G>T | |
| 8 | g.10622728C= | CA1763389722 | RP1L1 | c.474G= (p.Lys158=) n.724G= | |
| 8 | g.10622728C>G | CA370300056 | RP1L1 | c.474G>C (p.Lys158Asn) n.724G>C | COSMIC |
| 8 | g.10622728C>T | CA459620153 | RP1L1 | c.474G>A (p.Lys158=) n.724G>A | dbSNP |
| 8 | g.10622729T>A | CA370300058 | RP1L1 | c.473A>T (p.Lys158Met) n.723A>T | |
| 8 | g.10622729T>C | CA370300060 | RP1L1 | c.473A>G (p.Lys158Arg) n.723A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622729T>G | CA370300061 | RP1L1 | c.473A>C (p.Lys158Thr) n.723A>C | dbSNP |
| 8 | g.10622729T= | CA1763389726 | RP1L1 | c.473A= (p.Lys158=) n.723A= | |
| 8 | g.10622730T>A | CA370300063 | RP1L1 | c.472A>T (p.Lys158Ter) n.722A>T | |
| 8 | g.10622730T>C | CA370300065 | RP1L1 | c.472A>G (p.Lys158Glu) n.722A>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622730T>G | CA370300064 | RP1L1 | c.472A>C (p.Lys158Gln) n.722A>C | |
| 8 | g.10622730T= | CA1763389727 | RP1L1 | c.472A= (p.Lys158=) n.722A= | |
| 8 | g.10622731A>C | CA370300066 | RP1L1 | c.471T>G (p.Ile157Met) n.721T>G | ClinVar dbSNP |
| 8 | g.10622731A>G | CA459620155 | RP1L1 | c.471T>C (p.Ile157=) n.721T>C | |
| 8 | g.10622731A>T | CA459620156 | RP1L1 | c.471T>A (p.Ile157=) n.721T>A | |
| 8 | g.10622732A= | CA1763389729 | RP1L1 | c.470T= (p.Ile157=) n.720T= | |
| 8 | g.10622732A>C | CA370300067 | RP1L1 | c.470T>G (p.Ile157Ser) n.720T>G | |
| 8 | g.10622732A>G | CA370300068 | RP1L1 | c.470T>C (p.Ile157Thr) n.720T>C | dbSNP |
| 8 | g.10622732A>T | CA370300070 | RP1L1 | c.470T>A (p.Ile157Asn) n.720T>A | |
| 8 | g.10622733T>A | CA370300071 | RP1L1 | c.469A>T (p.Ile157Phe) n.719A>T | |
| 8 | g.10622733T>C | CA370300073 | RP1L1 | c.469A>G (p.Ile157Val) n.719A>G | dbSNP gnomAD v4 |
| 8 | g.10622733T>G | CA370300072 | RP1L1 | c.469A>C (p.Ile157Leu) n.719A>C | |
| 8 | g.10622733T= | CA1763389731 | RP1L1 | c.469A= (p.Ile157=) n.719A= | |
| 8 | g.10622733_10622736delinsTCAG | CA1763389730 | RP1L1 | c.466_469delinsCTGA (p.Leu156=) n.716_719delinsCTGA | |
| 8 | g.10622734C>A | CA459620159 | RP1L1 | c.468G>T (p.Leu156=) n.718G>T | |
| 8 | g.10622734C>G | CA459620161 | RP1L1 | c.468G>C (p.Leu156=) n.718G>C | |
| 8 | g.10622734C>T | CA459620162 | RP1L1 | c.468G>A (p.Leu156=) n.718G>A | |
| 8 | g.10622737_10622739del | CA580030559 | RP1L1 | c.466_468del (p.Leu156del) n.716_718del | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622735A= | CA1763389732 | RP1L1 | c.467T= (p.Leu156=) n.717T= | |
| 8 | g.10622735A>C | CA370300075 | RP1L1 | c.467T>G (p.Leu156Arg) n.717T>G | |
| 8 | g.10622735A>G | CA370300077 | RP1L1 | c.467T>C (p.Leu156Pro) n.717T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622735A>T | CA370300078 | RP1L1 | c.467T>A (p.Leu156Gln) n.717T>A | |
| 8 | g.10622736G>A | CA459620163 | RP1L1 | c.466C>T (p.Leu156=) n.716C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622736G>C | CA370300080 | RP1L1 | c.466C>G (p.Leu156Val) n.716C>G | gnomAD v4 |
| 8 | g.10622736G= | CA1763389735 | RP1L1 | c.466C= (p.Leu156=) n.716C= | |
| 8 | g.10622736G>T | CA370300081 | RP1L1 | c.466C>A (p.Leu156Met) n.716C>A | |
| 8 | g.10622737C>A | CA459620164 | RP1L1 | c.465G>T (p.Leu155=) n.715G>T | |
| 8 | g.10622737C= | CA1763389738 | RP1L1 | c.465G= (p.Leu155=) n.715G= | |
| 8 | g.10622737C>G | CA4625686 | RP1L1 | c.465G>C (p.Leu155=) n.715G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622737C>T | CA459620165 | RP1L1 | c.465G>A (p.Leu155=) n.715G>A | gnomAD v4 |
| 8 | g.10622738A>C | CA370300082 | RP1L1 | c.464T>G (p.Leu155Arg) n.714T>G | |
| 8 | g.10622738A>G | CA370300083 | RP1L1 | c.464T>C (p.Leu155Pro) n.714T>C | |
| 8 | g.10622738A>T | CA370300084 | RP1L1 | c.464T>A (p.Leu155Gln) n.714T>A | |
| 8 | g.10622739G>A | CA459620167 | RP1L1 | c.463C>T (p.Leu155=) n.713C>T | dbSNP |
| 8 | g.10622739G>C | CA370300086 | RP1L1 | c.463C>G (p.Leu155Val) n.713C>G | gnomAD v4 |
| 8 | g.10622739G= | CA1763389742 | RP1L1 | c.463C= (p.Leu155=) n.713C= | |
| 8 | g.10622739G>T | CA370300088 | RP1L1 | c.463C>A (p.Leu155Met) n.713C>A | |
| 8 | g.10622740T>A | CA459620168 | RP1L1 | c.462A>T (p.Ile154=) n.712A>T | |
| 8 | g.10622740T>C | CA370300089 | RP1L1 | c.462A>G (p.Ile154Met) n.712A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622740T>G | CA459620169 | RP1L1 | c.462A>C (p.Ile154=) n.712A>C | |
| 8 | g.10622740T= | CA1763389743 | RP1L1 | c.462A= (p.Ile154=) n.712A= | |
| 8 | g.10622741A= | CA1763389744 | RP1L1 | c.461T= (p.Ile154=) n.711T= | |
| 8 | g.10622741A>C | CA370300091 | RP1L1 | c.461T>G (p.Ile154Arg) n.711T>G | |
| 8 | g.10622741A>G | CA370300093 | RP1L1 | c.461T>C (p.Ile154Thr) n.711T>C | gnomAD v4 |
| 8 | g.10622741A>T | CA370300092 | RP1L1 | c.461T>A (p.Ile154Lys) n.711T>A | |
| 8 | g.10622742T>A | CA370300095 | RP1L1 | c.460A>T (p.Ile154Leu) n.710A>T | dbSNP gnomAD v4 |
| 8 | g.10622742T>C | CA370300096 | RP1L1 | c.460A>G (p.Ile154Val) n.710A>G | ClinVar gnomAD v4 |
| 8 | g.10622742T>G | CA370300098 | RP1L1 | c.460A>C (p.Ile154Leu) n.710A>C | |
| 8 | g.10622742T= | CA1763389745 | RP1L1 | c.460A= (p.Ile154=) n.710A= | |
| 8 | g.10622742dup | CA845136104 | RP1L1 | c.460dup (p.Ile154AsnfsTer5) n.710dup | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622743C>A | CA4625687 | RP1L1 | c.459G>T (p.Arg153Ser) n.709G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622743C= | CA1763389750 | RP1L1 | c.459G= (p.Arg153=) n.709G= | |
| 8 | g.10622743C>G | CA370300100 | RP1L1 | c.459G>C (p.Arg153Ser) n.709G>C | gnomAD v4 |
| 8 | g.10622743C>T | CA459620173 | RP1L1 | c.459G>A (p.Arg153=) n.709G>A | dbSNP gnomAD v4 COSMIC |
| 8 | g.10622744C>A | CA370300102 | RP1L1 | c.458G>T (p.Arg153Met) n.708G>T | |
| 8 | g.10622744C= | CA1763389751 | RP1L1 | c.458G= (p.Arg153=) n.708G= | |
| 8 | g.10622744C>G | CA370300103 | RP1L1 | c.458G>C (p.Arg153Thr) n.708G>C | |
| 8 | g.10622744C>T | CA370300105 | RP1L1 | c.458G>A (p.Arg153Lys) n.708G>A | dbSNP gnomAD v4 |
| 8 | g.10622745T>A | CA370300106 | RP1L1 | c.457A>T (p.Arg153Trp) n.707A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622745T>C | CA370300108 | RP1L1 | c.457A>G (p.Arg153Gly) n.707A>G | |
| 8 | g.10622745T>G | CA459620175 | RP1L1 | c.457A>C (p.Arg153=) n.707A>C | |
| 8 | g.10622745T= | CA1763389752 | RP1L1 | c.457A= (p.Arg153=) n.707A= | |
| 8 | g.10622746C>A | CA459620176 | RP1L1 | c.456G>T (p.Arg152=) n.706G>T | gnomAD v4 |
| 8 | g.10622746C>G | CA459620177 | RP1L1 | c.456G>C (p.Arg152=) n.706G>C | |
| 8 | g.10622746C>T | CA459620178 | RP1L1 | c.456G>A (p.Arg152=) n.706G>A | gnomAD v4 |
| 8 | g.10622747C>A | CA370300110 | RP1L1 | c.455G>T (p.Arg152Leu) n.705G>T | |
| 8 | g.10622747C= | CA1763389756 | RP1L1 | c.455G= (p.Arg152=) n.705G= | |
| 8 | g.10622747C>G | CA370300112 | RP1L1 | c.455G>C (p.Arg152Pro) n.705G>C | |
| 8 | g.10622747C>T | CA4625688 | RP1L1 | c.455G>A (p.Arg152Gln) n.705G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622747_10622748delinsCG | CA1763389758 | RP1L1 | c.454_455delinsCG (p.Arg152=) n.704_705delinsCG |