Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35814572G>A | CA363785753 | LHFPL5 | c.439G>A (p.Val147Ile) n.218G>A c.*70-4865G>A (n.*70-4865G>A) c.271G>A (p.Val91Ile) | |
6 | g.35814572G>C | CA363785754 | LHFPL5 | c.439G>C (p.Val147Leu) n.218G>C c.*70-4865G>C (n.*70-4865G>C) c.271G>C (p.Val91Leu) | |
6 | g.35814572G>T | CA363785755 | LHFPL5 | c.439G>T (p.Val147Phe) n.218G>T c.*70-4865G>T (n.*70-4865G>T) c.271G>T (p.Val91Phe) | |
6 | g.35814573T>A | CA363785758 | LHFPL5 | c.440T>A (p.Val147Asp) n.219T>A c.*70-4864T>A (n.*70-4864T>A) c.272T>A (p.Val91Asp) | |
6 | g.35814573T>C | CA363785757 | LHFPL5 | c.440T>C (p.Val147Ala) n.219T>C c.*70-4864T>C (n.*70-4864T>C) c.272T>C (p.Val91Ala) | |
6 | g.35814573T>G | CA363785756 | LHFPL5 | c.440T>G (p.Val147Gly) n.219T>G c.*70-4864T>G (n.*70-4864T>G) c.272T>G (p.Val91Gly) | |
6 | g.35814574C>A | CA450125102 | LHFPL5 | c.441C>A (p.Val147=) n.220C>A c.*70-4863C>A (n.*70-4863C>A) c.273C>A (p.Val91=) | |
6 | g.35814574C>G | CA450125103 | LHFPL5 | c.441C>G (p.Val147=) n.220C>G c.*70-4863C>G (n.*70-4863C>G) c.273C>G (p.Val91=) | |
6 | g.35814574C>T | CA450125104 | LHFPL5 | c.441C>T (p.Val147=) n.220C>T c.*70-4863C>T (n.*70-4863C>T) c.273C>T (p.Val91=) | |
6 | g.35814575T>A | CA363785759 | LHFPL5 | c.442T>A (p.Tyr148Asn) n.221T>A c.*70-4862T>A (n.*70-4862T>A) c.274T>A (p.Tyr92Asn) | |
6 | g.35814575T>C | CA363785761 | LHFPL5 | c.442T>C (p.Tyr148His) n.221T>C c.*70-4862T>C (n.*70-4862T>C) c.274T>C (p.Tyr92His) | |
6 | g.35814575T>G | CA363785760 | LHFPL5 | c.442T>G (p.Tyr148Asp) n.221T>G c.*70-4862T>G (n.*70-4862T>G) c.274T>G (p.Tyr92Asp) | |
6 | g.35814576A= | CA1621066408 | LHFPL5 | c.443A= (p.Tyr148=) n.222A= c.*70-4861A= (n.*70-4861A=) c.275A= (p.Tyr92=) | |
6 | g.35814576A>C | CA363785762 | LHFPL5 | c.443A>C (p.Tyr148Ser) n.222A>C c.*70-4861A>C (n.*70-4861A>C) c.275A>C (p.Tyr92Ser) | |
6 | g.35814576A>G | CA3774416 | LHFPL5 | c.443A>G (p.Tyr148Cys) n.222A>G c.*70-4861A>G (n.*70-4861A>G) c.275A>G (p.Tyr92Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814576A>T | CA363785763 | LHFPL5 | c.443A>T (p.Tyr148Phe) n.222A>T c.*70-4861A>T (n.*70-4861A>T) c.275A>T (p.Tyr92Phe) | |
6 | g.35814577C>A | CA363785764 | LHFPL5 | c.444C>A (p.Tyr148Ter) n.223C>A c.*70-4860C>A (n.*70-4860C>A) c.276C>A (p.Tyr92Ter) | gnomAD v4 |
6 | g.35814577C>G | CA363785765 | LHFPL5 | c.444C>G (p.Tyr148Ter) n.223C>G c.*70-4860C>G (n.*70-4860C>G) c.276C>G (p.Tyr92Ter) | |
6 | g.35814577C>T | CA450125105 | LHFPL5 | c.444C>T (p.Tyr148=) n.223C>T c.*70-4860C>T (n.*70-4860C>T) c.276C>T (p.Tyr92=) | gnomAD v4 |
6 | g.35814578C>A | CA363785766 | LHFPL5 | c.445C>A (p.Pro149Thr) n.224C>A c.*70-4859C>A (n.*70-4859C>A) c.277C>A (p.Pro93Thr) | |
6 | g.35814578C>G | CA363785767 | LHFPL5 | c.445C>G (p.Pro149Ala) n.224C>G c.*70-4859C>G (n.*70-4859C>G) c.277C>G (p.Pro93Ala) | |
6 | g.35814578C>T | CA363785768 | LHFPL5 | c.445C>T (p.Pro149Ser) n.224C>T c.*70-4859C>T (n.*70-4859C>T) c.277C>T (p.Pro93Ser) | gnomAD v4 |
6 | g.35814579C>A | CA363785769 | LHFPL5 | c.446C>A (p.Pro149His) n.225C>A c.*70-4858C>A (n.*70-4858C>A) c.278C>A (p.Pro93His) | |
6 | g.35814579C= | CA1621066409 | LHFPL5 | c.446C= (p.Pro149=) n.225C= c.*70-4858C= (n.*70-4858C=) c.278C= (p.Pro93=) | |
6 | g.35814579C>G | CA363785770 | LHFPL5 | c.446C>G (p.Pro149Arg) n.225C>G c.*70-4858C>G (n.*70-4858C>G) c.278C>G (p.Pro93Arg) | gnomAD v4 |
6 | g.35814579C>T | CA363785771 | LHFPL5 | c.446C>T (p.Pro149Leu) n.225C>T c.*70-4858C>T (n.*70-4858C>T) c.278C>T (p.Pro93Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814580T>A | CA450125107 | LHFPL5 | c.447T>A (p.Pro149=) n.226T>A c.*70-4857T>A (n.*70-4857T>A) c.279T>A (p.Pro93=) | |
6 | g.35814580T>C | CA450125108 | LHFPL5 | c.447T>C (p.Pro149=) n.226T>C c.*70-4857T>C (n.*70-4857T>C) c.279T>C (p.Pro93=) | dbSNP |
6 | g.35814580T>G | CA450125109 | LHFPL5 | c.447T>G (p.Pro149=) n.226T>G c.*70-4857T>G (n.*70-4857T>G) c.279T>G (p.Pro93=) | |
6 | g.35814580T= | CA1621066410 | LHFPL5 | c.447T= (p.Pro149=) n.226T= c.*70-4857T= (n.*70-4857T=) c.279T= (p.Pro93=) | |
6 | g.35814581G>A | CA363785774 | LHFPL5 | c.448G>A (p.Asp150Asn) n.227G>A c.*70-4856G>A (n.*70-4856G>A) c.280G>A (p.Asp94Asn) | dbSNP gnomAD v4 |
6 | g.35814581G>C | CA363785773 | LHFPL5 | c.448G>C (p.Asp150His) n.227G>C c.*70-4856G>C (n.*70-4856G>C) c.280G>C (p.Asp94His) | |
6 | g.35814581G= | CA1621066411 | LHFPL5 | c.448G= (p.Asp150=) n.227G= c.*70-4856G= (n.*70-4856G=) c.280G= (p.Asp94=) | |
6 | g.35814581G>T | CA363785772 | LHFPL5 | c.448G>T (p.Asp150Tyr) n.227G>T c.*70-4856G>T (n.*70-4856G>T) c.280G>T (p.Asp94Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814582A>C | CA363785775 | LHFPL5 | c.449A>C (p.Asp150Ala) n.228A>C c.*70-4855A>C (n.*70-4855A>C) c.281A>C (p.Asp94Ala) | |
6 | g.35814582A>G | CA363785776 | LHFPL5 | c.449A>G (p.Asp150Gly) n.228A>G c.*70-4855A>G (n.*70-4855A>G) c.281A>G (p.Asp94Gly) | |
6 | g.35814582A>T | CA363785777 | LHFPL5 | c.449A>T (p.Asp150Val) n.228A>T c.*70-4855A>T (n.*70-4855A>T) c.281A>T (p.Asp94Val) | |
6 | g.35814583T>A | CA363785778 | LHFPL5 | c.450T>A (p.Asp150Glu) n.229T>A c.*70-4854T>A (n.*70-4854T>A) c.282T>A (p.Asp94Glu) | |
6 | g.35814583T>C | CA450125111 | LHFPL5 | c.450T>C (p.Asp150=) n.229T>C c.*70-4854T>C (n.*70-4854T>C) c.282T>C (p.Asp94=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814583T>G | CA363785779 | LHFPL5 | c.450T>G (p.Asp150Glu) n.229T>G c.*70-4854T>G (n.*70-4854T>G) c.282T>G (p.Asp94Glu) | |
6 | g.35814583T= | CA1621066412 | LHFPL5 | c.450T= (p.Asp150=) n.229T= c.*70-4854T= (n.*70-4854T=) c.282T= (p.Asp94=) | |
6 | g.35814584G>A | CA137310644 | LHFPL5 | c.451G>A (p.Gly151Ser) n.230G>A c.*70-4853G>A (n.*70-4853G>A) c.283G>A (p.Gly95Ser) | dbSNP COSMIC |
6 | g.35814584G>C | CA363785780 | LHFPL5 | c.451G>C (p.Gly151Arg) n.230G>C c.*70-4853G>C (n.*70-4853G>C) c.283G>C (p.Gly95Arg) | |
6 | g.35814584G= | CA1621066413 | LHFPL5 | c.451G= (p.Gly151=) n.230G= c.*70-4853G= (n.*70-4853G=) c.283G= (p.Gly95=) | |
6 | g.35814584G>T | CA3774417 | LHFPL5 | c.451G>T (p.Gly151Cys) n.230G>T c.*70-4853G>T (n.*70-4853G>T) c.283G>T (p.Gly95Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814585G>A | CA363785781 | LHFPL5 | c.452G>A (p.Gly151Asp) n.231G>A c.*70-4852G>A (n.*70-4852G>A) c.284G>A (p.Gly95Asp) | gnomAD v4 |
6 | g.35814585G>C | CA363785782 | LHFPL5 | c.452G>C (p.Gly151Ala) n.231G>C c.*70-4852G>C (n.*70-4852G>C) c.284G>C (p.Gly95Ala) | |
6 | g.35814585G= | CA1621066414 | LHFPL5 | c.452G= (p.Gly151=) n.231G= c.*70-4852G= (n.*70-4852G=) c.284G= (p.Gly95=) | |
6 | g.35814585G>T | CA3774418 | LHFPL5 | c.452G>T (p.Gly151Val) n.231G>T c.*70-4852G>T (n.*70-4852G>T) c.284G>T (p.Gly95Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814586T>A | CA450125114 | LHFPL5 | c.453T>A (p.Gly151=) n.232T>A c.*70-4851T>A (n.*70-4851T>A) c.285T>A (p.Gly95=) | |
6 | g.35814586T>C | CA3774419 | LHFPL5 | c.453T>C (p.Gly151=) n.232T>C c.*70-4851T>C (n.*70-4851T>C) c.285T>C (p.Gly95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814586T>G | CA450125116 | LHFPL5 | c.453T>G (p.Gly151=) n.232T>G c.*70-4851T>G (n.*70-4851T>G) c.285T>G (p.Gly95=) | |
6 | g.35814586T= | CA1621066415 | LHFPL5 | c.453T= (p.Gly151=) n.232T= c.*70-4851T= (n.*70-4851T=) c.285T= (p.Gly95=) | |
6 | g.35814587T>A | CA363785785 | LHFPL5 | c.454T>A (p.Trp152Arg) n.233T>A c.*70-4850T>A (n.*70-4850T>A) c.286T>A (p.Trp96Arg) | |
6 | g.35814587T>C | CA363785784 | LHFPL5 | c.454T>C (p.Trp152Arg) n.233T>C c.*70-4850T>C (n.*70-4850T>C) c.286T>C (p.Trp96Arg) | |
6 | g.35814587T>G | CA363785783 | LHFPL5 | c.454T>G (p.Trp152Gly) n.233T>G c.*70-4850T>G (n.*70-4850T>G) c.286T>G (p.Trp96Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814587T= | CA1621066416 | LHFPL5 | c.454T= (p.Trp152=) n.233T= c.*70-4850T= (n.*70-4850T=) c.286T= (p.Trp96=) | |
6 | g.35814588G>A | CA363785786 | LHFPL5 | c.455G>A (p.Trp152Ter) n.234G>A c.*70-4849G>A (n.*70-4849G>A) c.287G>A (p.Trp96Ter) | |
6 | g.35814588G>C | CA363785787 | LHFPL5 | c.455G>C (p.Trp152Ser) n.234G>C c.*70-4849G>C (n.*70-4849G>C) c.287G>C (p.Trp96Ser) | |
6 | g.35814588G>T | CA363785788 | LHFPL5 | c.455G>T (p.Trp152Leu) n.234G>T c.*70-4849G>T (n.*70-4849G>T) c.287G>T (p.Trp96Leu) | |
6 | g.35814589G>A | CA363785789 | LHFPL5 | c.456G>A (p.Trp152Ter) n.235G>A c.*70-4848G>A (n.*70-4848G>A) c.288G>A (p.Trp96Ter) | |
6 | g.35814589G>C | CA363785790 | LHFPL5 | c.456G>C (p.Trp152Cys) n.235G>C c.*70-4848G>C (n.*70-4848G>C) c.288G>C (p.Trp96Cys) | gnomAD v4 |
6 | g.35814589G>T | CA363785791 | LHFPL5 | c.456G>T (p.Trp152Cys) n.235G>T c.*70-4848G>T (n.*70-4848G>T) c.288G>T (p.Trp96Cys) | |
6 | g.35814590G>A | CA363785794 | LHFPL5 | c.457G>A (p.Asp153Asn) n.236G>A c.*70-4847G>A (n.*70-4847G>A) c.289G>A (p.Asp97Asn) | |
6 | g.35814590G>C | CA363785792 | LHFPL5 | c.457G>C (p.Asp153His) n.236G>C c.*70-4847G>C (n.*70-4847G>C) c.289G>C (p.Asp97His) | |
6 | g.35814590G>T | CA363785793 | LHFPL5 | c.457G>T (p.Asp153Tyr) n.236G>T c.*70-4847G>T (n.*70-4847G>T) c.289G>T (p.Asp97Tyr) | |
6 | g.35814591A>C | CA363785795 | LHFPL5 | c.458A>C (p.Asp153Ala) n.237A>C c.*70-4846A>C (n.*70-4846A>C) c.290A>C (p.Asp97Ala) | |
6 | g.35814591A>G | CA363785796 | LHFPL5 | c.458A>G (p.Asp153Gly) n.237A>G c.*70-4846A>G (n.*70-4846A>G) c.290A>G (p.Asp97Gly) | gnomAD v4 |
6 | g.35814591A>T | CA363785797 | LHFPL5 | c.458A>T (p.Asp153Val) n.237A>T c.*70-4846A>T (n.*70-4846A>T) c.290A>T (p.Asp97Val) | |
6 | g.35814592C>A | CA363785798 | LHFPL5 | c.459C>A (p.Asp153Glu) n.238C>A c.*70-4845C>A (n.*70-4845C>A) c.291C>A (p.Asp97Glu) | |
6 | g.35814592C>G | CA363785799 | LHFPL5 | c.459C>G (p.Asp153Glu) n.238C>G c.*70-4845C>G (n.*70-4845C>G) c.291C>G (p.Asp97Glu) | |
6 | g.35814592C>T | CA450125117 | LHFPL5 | c.459C>T (p.Asp153=) n.238C>T c.*70-4845C>T (n.*70-4845C>T) c.291C>T (p.Asp97=) | |
6 | g.35814593T>A | CA3774420 | LHFPL5 | c.460T>A (p.Ser154Thr) n.239T>A c.*70-4844T>A (n.*70-4844T>A) c.292T>A (p.Ser98Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814593T>C | CA363785800 | LHFPL5 | c.460T>C (p.Ser154Pro) n.239T>C c.*70-4844T>C (n.*70-4844T>C) c.292T>C (p.Ser98Pro) | |
6 | g.35814593T>G | CA3774421 | LHFPL5 | c.460T>G (p.Ser154Ala) n.239T>G c.*70-4844T>G (n.*70-4844T>G) c.292T>G (p.Ser98Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814593T= | CA1621066417 | LHFPL5 | c.460T= (p.Ser154=) n.239T= c.*70-4844T= (n.*70-4844T=) c.292T= (p.Ser98=) | |
6 | g.35814594C>A | CA363785801 | LHFPL5 | c.461C>A (p.Ser154Ter) n.240C>A c.*70-4843C>A (n.*70-4843C>A) c.293C>A (p.Ser98Ter) | |
6 | g.35814594C= | CA1621066418 | LHFPL5 | c.461C= (p.Ser154=) n.240C= c.*70-4843C= (n.*70-4843C=) c.293C= (p.Ser98=) | |
6 | g.35814594C>G | CA363785802 | LHFPL5 | c.461C>G (p.Ser154Ter) n.240C>G c.*70-4843C>G (n.*70-4843C>G) c.293C>G (p.Ser98Ter) | |
6 | g.35814594C>T | CA363785803 | LHFPL5 | c.461C>T (p.Ser154Leu) n.240C>T c.*70-4843C>T (n.*70-4843C>T) c.293C>T (p.Ser98Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814595_35814605dup | CA2573052683 | LHFPL5 | c.462_472dup (p.Arg158GlnfsTer?) n.241_251dup c.*70-4842_*70-4832dup (n.*70-4842_*70-4832dup) c.294_304dup (p.Arg102GlnfsTer?) | ClinVar dbSNP |
6 | g.35814595A= | CA1621066419 | LHFPL5 | c.462A= (p.Ser154=) n.241A= c.*70-4842A= (n.*70-4842A=) c.294A= (p.Ser98=) | |
6 | g.35814595A>C | CA450125119 | LHFPL5 | c.462A>C (p.Ser154=) n.241A>C c.*70-4842A>C (n.*70-4842A>C) c.294A>C (p.Ser98=) | |
6 | g.35814595A>G | CA450125120 | LHFPL5 | c.462A>G (p.Ser154=) n.241A>G c.*70-4842A>G (n.*70-4842A>G) c.294A>G (p.Ser98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814595A>T | CA450125121 | LHFPL5 | c.462A>T (p.Ser154=) n.241A>T c.*70-4842A>T (n.*70-4842A>T) c.294A>T (p.Ser98=) | |
6 | g.35814596A>C | CA363785804 | LHFPL5 | c.463A>C (p.Ser155Arg) n.242A>C c.*70-4841A>C (n.*70-4841A>C) c.295A>C (p.Ser99Arg) | |
6 | g.35814596A>G | CA363785805 | LHFPL5 | c.463A>G (p.Ser155Gly) n.242A>G c.*70-4841A>G (n.*70-4841A>G) c.295A>G (p.Ser99Gly) | |
6 | g.35814596A>T | CA363785806 | LHFPL5 | c.463A>T (p.Ser155Cys) n.242A>T c.*70-4841A>T (n.*70-4841A>T) c.295A>T (p.Ser99Cys) | |
6 | g.35814597G>A | CA363785807 | LHFPL5 | c.464G>A (p.Ser155Asn) n.243G>A c.*70-4840G>A (n.*70-4840G>A) c.296G>A (p.Ser99Asn) | |
6 | g.35814597G>C | CA363785808 | LHFPL5 | c.464G>C (p.Ser155Thr) n.243G>C c.*70-4840G>C (n.*70-4840G>C) c.296G>C (p.Ser99Thr) | gnomAD v4 |
6 | g.35814597G= | CA1621066420 | LHFPL5 | c.464G= (p.Ser155=) n.243G= c.*70-4840G= (n.*70-4840G=) c.296G= (p.Ser99=) | |
6 | g.35814597G>T | CA363785809 | LHFPL5 | c.464G>T (p.Ser155Ile) n.243G>T c.*70-4840G>T (n.*70-4840G>T) c.296G>T (p.Ser99Ile) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814598T>A | CA363785810 | LHFPL5 | c.465T>A (p.Ser155Arg) n.244T>A c.*70-4839T>A (n.*70-4839T>A) c.297T>A (p.Ser99Arg) | |
6 | g.35814598T>C | CA450125125 | LHFPL5 | c.465T>C (p.Ser155=) n.244T>C c.*70-4839T>C (n.*70-4839T>C) c.297T>C (p.Ser99=) | |
6 | g.35814598T>G | CA363785811 | LHFPL5 | c.465T>G (p.Ser155Arg) n.244T>G c.*70-4839T>G (n.*70-4839T>G) c.297T>G (p.Ser99Arg) | |
6 | g.35814599G>A | CA363785813 | LHFPL5 | c.466G>A (p.Glu156Lys) n.245G>A c.*70-4838G>A (n.*70-4838G>A) c.298G>A (p.Glu100Lys) | gnomAD v4 |
6 | g.35814599G>C | CA363785814 | LHFPL5 | c.466G>C (p.Glu156Gln) n.245G>C c.*70-4838G>C (n.*70-4838G>C) c.298G>C (p.Glu100Gln) | |
6 | g.35814599G>T | CA363785812 | LHFPL5 | c.466G>T (p.Glu156Ter) n.245G>T c.*70-4838G>T (n.*70-4838G>T) c.298G>T (p.Glu100Ter) | |
6 | g.35814600A>C | CA363785817 | LHFPL5 | c.467A>C (p.Glu156Ala) n.246A>C c.*70-4837A>C (n.*70-4837A>C) c.299A>C (p.Glu100Ala) | |
6 | g.35814600A>G | CA363785815 | LHFPL5 | c.467A>G (p.Glu156Gly) n.246A>G c.*70-4837A>G (n.*70-4837A>G) c.299A>G (p.Glu100Gly) | |
6 | g.35814600A>T | CA363785816 | LHFPL5 | c.467A>T (p.Glu156Val) n.246A>T c.*70-4837A>T (n.*70-4837A>T) c.299A>T (p.Glu100Val) | |
6 | g.35814601G>A | CA450125129 | LHFPL5 | c.468G>A (p.Glu156=) n.247G>A c.*70-4836G>A (n.*70-4836G>A) c.300G>A (p.Glu100=) | |
6 | g.35814601G>C | CA363785818 | LHFPL5 | c.468G>C (p.Glu156Asp) n.247G>C c.*70-4836G>C (n.*70-4836G>C) c.300G>C (p.Glu100Asp) | |
6 | g.35814601G>T | CA363785819 | LHFPL5 | c.468G>T (p.Glu156Asp) n.247G>T c.*70-4836G>T (n.*70-4836G>T) c.300G>T (p.Glu100Asp) | |
6 | g.35814602G>A | CA363785820 | LHFPL5 | c.469G>A (p.Val157Met) n.248G>A c.*70-4835G>A (n.*70-4835G>A) c.301G>A (p.Val101Met) | dbSNP |
6 | g.35814602G>C | CA363785821 | LHFPL5 | c.469G>C (p.Val157Leu) n.248G>C c.*70-4835G>C (n.*70-4835G>C) c.301G>C (p.Val101Leu) | |
6 | g.35814602G= | CA1621066421 | LHFPL5 | c.469G= (p.Val157=) n.248G= c.*70-4835G= (n.*70-4835G=) c.301G= (p.Val101=) | |
6 | g.35814602G>T | CA363785822 | LHFPL5 | c.469G>T (p.Val157Leu) n.248G>T c.*70-4835G>T (n.*70-4835G>T) c.301G>T (p.Val101Leu) | |
6 | g.35814603T>A | CA363785825 | LHFPL5 | c.470T>A (p.Val157Glu) n.249T>A c.*70-4834T>A (n.*70-4834T>A) c.302T>A (p.Val101Glu) | |
6 | g.35814603T>C | CA363785823 | LHFPL5 | c.470T>C (p.Val157Ala) n.249T>C c.*70-4834T>C (n.*70-4834T>C) c.302T>C (p.Val101Ala) | gnomAD v4 |
6 | g.35814603T>G | CA363785824 | LHFPL5 | c.470T>G (p.Val157Gly) n.249T>G c.*70-4834T>G (n.*70-4834T>G) c.302T>G (p.Val101Gly) | |
6 | g.35814604G>A | CA450125205 | LHFPL5 | c.471G>A (p.Val157=) n.250G>A c.*70-4833G>A (n.*70-4833G>A) c.303G>A (p.Val101=) | |
6 | g.35814604G>C | CA450125207 | LHFPL5 | c.471G>C (p.Val157=) n.250G>C c.*70-4833G>C (n.*70-4833G>C) c.303G>C (p.Val101=) | |
6 | g.35814604G>T | CA450125206 | LHFPL5 | c.471G>T (p.Val157=) n.250G>T c.*70-4833G>T (n.*70-4833G>T) c.303G>T (p.Val101=) | |
6 | g.35814605C>A | CA450125208 | LHFPL5 | c.472C>A (p.Arg158=) n.251C>A c.*70-4832C>A (n.*70-4832C>A) c.304C>A (p.Arg102=) | |
6 | g.35814605C= | CA1621066422 | LHFPL5 | c.472C= (p.Arg158=) n.251C= c.*70-4832C= (n.*70-4832C=) c.304C= (p.Arg102=) | |
6 | g.35814605C>G | CA363785826 | LHFPL5 | c.472C>G (p.Arg158Gly) n.251C>G c.*70-4832C>G (n.*70-4832C>G) c.304C>G (p.Arg102Gly) | |
6 | g.35814605C>T | CA3774422 | LHFPL5 | c.472C>T (p.Arg158Trp) n.251C>T c.*70-4832C>T (n.*70-4832C>T) c.304C>T (p.Arg102Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35814606G>A | CA3774423 | LHFPL5 | c.473G>A (p.Arg158Gln) n.252G>A c.*70-4831G>A (n.*70-4831G>A) c.305G>A (p.Arg102Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814606G>C | CA363785827 | LHFPL5 | c.473G>C (p.Arg158Pro) n.252G>C c.*70-4831G>C (n.*70-4831G>C) c.305G>C (p.Arg102Pro) | dbSNP gnomAD v4 |
6 | g.35814606G= | CA1621066423 | LHFPL5 | c.473G= (p.Arg158=) n.252G= c.*70-4831G= (n.*70-4831G=) c.305G= (p.Arg102=) | |
6 | g.35814606G>T | CA363785828 | LHFPL5 | c.473G>T (p.Arg158Leu) n.252G>T c.*70-4831G>T (n.*70-4831G>T) c.305G>T (p.Arg102Leu) | |
6 | g.35814607G>A | CA10586942 | LHFPL5 | c.474G>A (p.Arg158=) n.253G>A c.*70-4830G>A (n.*70-4830G>A) c.306G>A (p.Arg102=) | ClinVar dbSNP |
6 | g.35814607G>C | CA450125209 | LHFPL5 | c.474G>C (p.Arg158=) n.253G>C c.*70-4830G>C (n.*70-4830G>C) c.306G>C (p.Arg102=) | |
6 | g.35814607G= | CA1621066424 | LHFPL5 | c.474G= (p.Arg158=) n.253G= c.*70-4830G= (n.*70-4830G=) c.306G= (p.Arg102=) | |
6 | g.35814607G>T | CA450125210 | LHFPL5 | c.474G>T (p.Arg158=) n.253G>T c.*70-4830G>T (n.*70-4830G>T) c.306G>T (p.Arg102=) | |
6 | g.35814608C>A | CA363785829 | LHFPL5 | c.475C>A (p.Arg159Ser) n.254C>A c.*70-4829C>A (n.*70-4829C>A) c.307C>A (p.Arg103Ser) | |
6 | g.35814608C= | CA1621066425 | LHFPL5 | c.475C= (p.Arg159=) n.254C= c.*70-4829C= (n.*70-4829C=) c.307C= (p.Arg103=) | |
6 | g.35814608C>G | CA363785830 | LHFPL5 | c.475C>G (p.Arg159Gly) n.254C>G c.*70-4829C>G (n.*70-4829C>G) c.307C>G (p.Arg103Gly) | ClinVar |
6 | g.35814608C>T | CA3774424 | LHFPL5 | c.475C>T (p.Arg159Cys) n.254C>T c.*70-4829C>T (n.*70-4829C>T) c.307C>T (p.Arg103Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814609G>A | CA176572 | LHFPL5 | c.476G>A (p.Arg159His) n.255G>A c.*70-4828G>A (n.*70-4828G>A) c.308G>A (p.Arg103His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35814609G>C | CA363785831 | LHFPL5 | c.476G>C (p.Arg159Pro) n.255G>C c.*70-4828G>C (n.*70-4828G>C) c.308G>C (p.Arg103Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814609G= | CA1621066426 | LHFPL5 | c.476G= (p.Arg159=) n.255G= c.*70-4828G= (n.*70-4828G=) c.308G= (p.Arg103=) | |
6 | g.35814609G>T | CA363785832 | LHFPL5 | c.476G>T (p.Arg159Leu) n.255G>T c.*70-4828G>T (n.*70-4828G>T) c.308G>T (p.Arg103Leu) | |
6 | g.35814610C>A | CA450125211 | LHFPL5 | c.477C>A (p.Arg159=) n.256C>A c.*70-4827C>A (n.*70-4827C>A) c.309C>A (p.Arg103=) | |
6 | g.35814610C>G | CA450125212 | LHFPL5 | c.477C>G (p.Arg159=) n.256C>G c.*70-4827C>G (n.*70-4827C>G) c.309C>G (p.Arg103=) | |
6 | g.35814610C>T | CA450125213 | LHFPL5 | c.477C>T (p.Arg159=) n.256C>T c.*70-4827C>T (n.*70-4827C>T) c.309C>T (p.Arg103=) | gnomAD v4 |
6 | g.35814611A>C | CA363785833 | LHFPL5 | c.478A>C (p.Met160Leu) n.257A>C c.*70-4826A>C (n.*70-4826A>C) c.310A>C (p.Met104Leu) | |
6 | g.35814611A>G | CA363785834 | LHFPL5 | c.478A>G (p.Met160Val) n.257A>G c.*70-4826A>G (n.*70-4826A>G) c.310A>G (p.Met104Val) | |
6 | g.35814611A>T | CA363785835 | LHFPL5 | c.478A>T (p.Met160Leu) n.257A>T c.*70-4826A>T (n.*70-4826A>T) c.310A>T (p.Met104Leu) | |
6 | g.35814612T>A | CA363785836 | LHFPL5 | c.479T>A (p.Met160Lys) n.258T>A c.*70-4825T>A (n.*70-4825T>A) c.311T>A (p.Met104Lys) | |
6 | g.35814612T>C | CA363785837 | LHFPL5 | c.479T>C (p.Met160Thr) n.258T>C c.*70-4825T>C (n.*70-4825T>C) c.311T>C (p.Met104Thr) | gnomAD v4 |
6 | g.35814612T>G | CA363785838 | LHFPL5 | c.479T>G (p.Met160Arg) n.258T>G c.*70-4825T>G (n.*70-4825T>G) c.311T>G (p.Met104Arg) | |
6 | g.35814613G>A | CA363785839 | LHFPL5 | c.480G>A (p.Met160Ile) n.259G>A c.*70-4824G>A (n.*70-4824G>A) c.312G>A (p.Met104Ile) | dbSNP gnomAD v2 |
6 | g.35814613G>C | CA363785840 | LHFPL5 | c.480G>C (p.Met160Ile) n.259G>C c.*70-4824G>C (n.*70-4824G>C) c.312G>C (p.Met104Ile) | gnomAD v4 |
6 | g.35814613G= | CA1621066427 | LHFPL5 | c.480G= (p.Met160=) n.259G= c.*70-4824G= (n.*70-4824G=) c.312G= (p.Met104=) | |
6 | g.35814613G>T | CA363785841 | LHFPL5 | c.480G>T (p.Met160Ile) n.259G>T c.*70-4824G>T (n.*70-4824G>T) c.312G>T (p.Met104Ile) | |
6 | g.35814614T>A | CA363785842 | LHFPL5 | c.481T>A (p.Cys161Ser) n.260T>A c.*70-4823T>A (n.*70-4823T>A) c.313T>A (p.Cys105Ser) | |
6 | g.35814614T>C | CA363785844 | LHFPL5 | c.481T>C (p.Cys161Arg) n.260T>C c.*70-4823T>C (n.*70-4823T>C) c.313T>C (p.Cys105Arg) | |
6 | g.35814614T>G | CA363785843 | LHFPL5 | c.481T>G (p.Cys161Gly) n.260T>G c.*70-4823T>G (n.*70-4823T>G) c.313T>G (p.Cys105Gly) | |
6 | g.35814615G>A | CA363785845 | LHFPL5 | c.482G>A (p.Cys161Tyr) n.261G>A c.*70-4822G>A (n.*70-4822G>A) c.314G>A (p.Cys105Tyr) | |
6 | g.35814615G>C | CA363785846 | LHFPL5 | c.482G>C (p.Cys161Ser) n.261G>C c.*70-4822G>C (n.*70-4822G>C) c.314G>C (p.Cys105Ser) | |
6 | g.35814615G>T | CA363785847 | LHFPL5 | c.482G>T (p.Cys161Phe) n.261G>T c.*70-4822G>T (n.*70-4822G>T) c.314G>T (p.Cys105Phe) | |
6 | g.35814616T>A | CA363785848 | LHFPL5 | c.483T>A (p.Cys161Ter) n.262T>A c.*70-4821T>A (n.*70-4821T>A) c.315T>A (p.Cys105Ter) | |
6 | g.35814616T>C | CA450125214 | LHFPL5 | c.483T>C (p.Cys161=) n.262T>C c.*70-4821T>C (n.*70-4821T>C) c.315T>C (p.Cys105=) | gnomAD v4 |
6 | g.35814616T>G | CA363785849 | LHFPL5 | c.483T>G (p.Cys161Trp) n.262T>G c.*70-4821T>G (n.*70-4821T>G) c.315T>G (p.Cys105Trp) | gnomAD v4 |
6 | g.35814617G>A | CA363785852 | LHFPL5 | c.484G>A (p.Gly162Arg) n.263G>A c.*70-4820G>A (n.*70-4820G>A) c.316G>A (p.Gly106Arg) | dbSNP |
6 | g.35814617G>C | CA363785851 | LHFPL5 | c.484G>C (p.Gly162Arg) n.263G>C c.*70-4820G>C (n.*70-4820G>C) c.316G>C (p.Gly106Arg) | |
6 | g.35814617G= | CA1621066428 | LHFPL5 | c.484G= (p.Gly162=) n.263G= c.*70-4820G= (n.*70-4820G=) c.316G= (p.Gly106=) | |
6 | g.35814617G>T | CA363785850 | LHFPL5 | c.484G>T (p.Gly162Trp) n.263G>T c.*70-4820G>T (n.*70-4820G>T) c.316G>T (p.Gly106Trp) | |
6 | g.35814618G>A | CA363785853 | LHFPL5 | c.485G>A (p.Gly162Glu) n.264G>A c.*70-4819G>A (n.*70-4819G>A) c.317G>A (p.Gly106Glu) | gnomAD v4 |
6 | g.35814618G>C | CA363785854 | LHFPL5 | c.485G>C (p.Gly162Ala) n.264G>C c.*70-4819G>C (n.*70-4819G>C) c.317G>C (p.Gly106Ala) | |
6 | g.35814618G>T | CA363785855 | LHFPL5 | c.485G>T (p.Gly162Val) n.264G>T c.*70-4819G>T (n.*70-4819G>T) c.317G>T (p.Gly106Val) | |
6 | g.35814619G>A | CA450125215 | LHFPL5 | c.486G>A (p.Gly162=) n.265G>A c.*70-4818G>A (n.*70-4818G>A) c.318G>A (p.Gly106=) | |
6 | g.35814619G>C | CA450125217 | LHFPL5 | c.486G>C (p.Gly162=) n.265G>C c.*70-4818G>C (n.*70-4818G>C) c.318G>C (p.Gly106=) | gnomAD v4 |
6 | g.35814619G>T | CA450125216 | LHFPL5 | c.486G>T (p.Gly162=) n.265G>T c.*70-4818G>T (n.*70-4818G>T) c.318G>T (p.Gly106=) | |
6 | g.35814620G>A | CA363785857 | LHFPL5 | c.487G>A (p.Glu163Lys) n.266G>A c.*70-4817G>A (n.*70-4817G>A) c.319G>A (p.Glu107Lys) | ClinVar gnomAD v4 |
6 | g.35814620G>C | CA363785859 | LHFPL5 | c.487G>C (p.Glu163Gln) n.266G>C c.*70-4817G>C (n.*70-4817G>C) c.319G>C (p.Glu107Gln) | |
6 | g.35814620G>T | CA363785860 | LHFPL5 | c.487G>T (p.Glu163Ter) n.266G>T c.*70-4817G>T (n.*70-4817G>T) c.319G>T (p.Glu107Ter) | gnomAD v4 |
6 | g.35814621A>C | CA363785862 | LHFPL5 | c.488A>C (p.Glu163Ala) n.267A>C c.*70-4816A>C (n.*70-4816A>C) c.320A>C (p.Glu107Ala) | |
6 | g.35814621A>G | CA363785865 | LHFPL5 | c.488A>G (p.Glu163Gly) n.267A>G c.*70-4816A>G (n.*70-4816A>G) c.320A>G (p.Glu107Gly) | |
6 | g.35814621A>T | CA363785863 | LHFPL5 | c.488A>T (p.Glu163Val) n.267A>T c.*70-4816A>T (n.*70-4816A>T) c.320A>T (p.Glu107Val) | |
6 | g.35814622G>A | CA450125218 | LHFPL5 | c.489G>A (p.Glu163=) n.268G>A c.*70-4815G>A (n.*70-4815G>A) c.321G>A (p.Glu107=) | |
6 | g.35814622G>C | CA363785867 | LHFPL5 | c.489G>C (p.Glu163Asp) n.268G>C c.*70-4815G>C (n.*70-4815G>C) c.321G>C (p.Glu107Asp) | |
6 | g.35814622G>T | CA363785869 | LHFPL5 | c.489G>T (p.Glu163Asp) n.268G>T c.*70-4815G>T (n.*70-4815G>T) c.321G>T (p.Glu107Asp) | gnomAD v4 |
6 | g.35814623C>A | CA363785870 | LHFPL5 | c.490C>A (p.Gln164Lys) n.269C>A c.*70-4814C>A (n.*70-4814C>A) c.322C>A (p.Gln108Lys) | |
6 | g.35814623C= | CA1621066429 | LHFPL5 | c.490C= (p.Gln164=) n.269C= c.*70-4814C= (n.*70-4814C=) c.322C= (p.Gln108=) | |
6 | g.35814623C>G | CA363785872 | LHFPL5 | c.490C>G (p.Gln164Glu) n.269C>G c.*70-4814C>G (n.*70-4814C>G) c.322C>G (p.Gln108Glu) | |
6 | g.35814623C>T | CA363785874 | LHFPL5 | c.490C>T (p.Gln164Ter) n.269C>T c.*70-4814C>T (n.*70-4814C>T) c.322C>T (p.Gln108Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814624A>C | CA363785875 | LHFPL5 | c.491A>C (p.Gln164Pro) n.270A>C c.*70-4813A>C (n.*70-4813A>C) c.323A>C (p.Gln108Pro) | |
6 | g.35814624A>G | CA363785877 | LHFPL5 | c.491A>G (p.Gln164Arg) n.270A>G c.*70-4813A>G (n.*70-4813A>G) c.323A>G (p.Gln108Arg) | |
6 | g.35814624A>T | CA363785878 | LHFPL5 | c.491A>T (p.Gln164Leu) n.270A>T c.*70-4813A>T (n.*70-4813A>T) c.323A>T (p.Gln108Leu) | |
6 | g.35814625G>A | CA450125219 | LHFPL5 | c.492G>A (p.Gln164=) n.271G>A c.*70-4812G>A (n.*70-4812G>A) c.324G>A (p.Gln108=) | |
6 | g.35814625G>C | CA363785880 | LHFPL5 | c.492G>C (p.Gln164His) n.271G>C c.*70-4812G>C (n.*70-4812G>C) c.324G>C (p.Gln108His) | |
6 | g.35814625G>T | CA363785882 | LHFPL5 | c.492G>T (p.Gln164His) n.271G>T c.*70-4812G>T (n.*70-4812G>T) c.324G>T (p.Gln108His) | |
6 | g.35814626A>C | CA363785888 | LHFPL5 | c.493A>C (p.Thr165Pro) n.272A>C c.*70-4811A>C (n.*70-4811A>C) c.325A>C (p.Thr109Pro) | |
6 | g.35814626A>G | CA363785886 | LHFPL5 | c.493A>G (p.Thr165Ala) n.272A>G c.*70-4811A>G (n.*70-4811A>G) c.325A>G (p.Thr109Ala) | |
6 | g.35814626A>T | CA363785884 | LHFPL5 | c.493A>T (p.Thr165Ser) n.272A>T c.*70-4811A>T (n.*70-4811A>T) c.325A>T (p.Thr109Ser) | |
6 | g.35814627C>A | CA363785889 | LHFPL5 | c.494C>A (p.Thr165Lys) n.273C>A c.*70-4810C>A (n.*70-4810C>A) c.326C>A (p.Thr109Lys) | |
6 | g.35814627C= | CA1621066430 | LHFPL5 | c.494C= (p.Thr165=) n.273C= c.*70-4810C= (n.*70-4810C=) c.326C= (p.Thr109=) | |
6 | g.35814627C>G | CA363785892 | LHFPL5 | c.494C>G (p.Thr165Arg) n.273C>G c.*70-4810C>G (n.*70-4810C>G) c.326C>G (p.Thr109Arg) | |
6 | g.35814627C>T | CA251916 | LHFPL5 | c.494C>T (p.Thr165Met) n.273C>T c.*70-4810C>T (n.*70-4810C>T) c.326C>T (p.Thr109Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814627_35814629delinsCGG | CA1621066431 | LHFPL5 | c.494_496delinsCGG (p.Thr165=) n.273_275delinsCGG c.*70-4810_*70-4808delinsCGG (n.*70-4810_*70-4808delinsCGG) c.326_328delinsCGG (p.Thr109=) | |
6 | g.35814628G>A | CA3774425 | LHFPL5 | c.495G>A (p.Thr165=) n.274G>A c.*70-4809G>A (n.*70-4809G>A) c.327G>A (p.Thr109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35814628G>C | CA450125220 | LHFPL5 | c.495G>C (p.Thr165=) n.274G>C c.*70-4809G>C (n.*70-4809G>C) c.327G>C (p.Thr109=) | |
6 | g.35814628G= | CA1621066432 | LHFPL5 | c.495G= (p.Thr165=) n.274G= c.*70-4809G= (n.*70-4809G=) c.327G= (p.Thr109=) | |
6 | g.35814628G>T | CA450125221 | LHFPL5 | c.495G>T (p.Thr165=) n.274G>T c.*70-4809G>T (n.*70-4809G>T) c.327G>T (p.Thr109=) | gnomAD v4 |
6 | g.35814629_35814630del | CA824252973 | LHFPL5 | c.496_497del (p.Gly166GlnfsTer?) n.275_276del c.*70-4808_*70-4807del (n.*70-4808_*70-4807del) c.328_329del (p.Gly110GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814629G>A | CA3774426 | LHFPL5 | c.496G>A (p.Gly166Ser) n.275G>A c.*70-4808G>A (n.*70-4808G>A) c.328G>A (p.Gly110Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814629G>C | CA363785895 | LHFPL5 | c.496G>C (p.Gly166Arg) n.275G>C c.*70-4808G>C (n.*70-4808G>C) c.328G>C (p.Gly110Arg) | |
6 | g.35814629G= | CA1621066433 | LHFPL5 | c.496G= (p.Gly166=) n.275G= c.*70-4808G= (n.*70-4808G=) c.328G= (p.Gly110=) | |
6 | g.35814629G>T | CA363785897 | LHFPL5 | c.496G>T (p.Gly166Cys) n.275G>T c.*70-4808G>T (n.*70-4808G>T) c.328G>T (p.Gly110Cys) | |
6 | g.35814630G>A | CA363785899 | LHFPL5 | c.497G>A (p.Gly166Asp) n.276G>A c.*70-4807G>A (n.*70-4807G>A) c.329G>A (p.Gly110Asp) | |
6 | g.35814630G>C | CA363785900 | LHFPL5 | c.497G>C (p.Gly166Ala) n.276G>C c.*70-4807G>C (n.*70-4807G>C) c.329G>C (p.Gly110Ala) | |
6 | g.35814630G>T | CA363785902 | LHFPL5 | c.497G>T (p.Gly166Val) n.276G>T c.*70-4807G>T (n.*70-4807G>T) c.329G>T (p.Gly110Val) | |
6 | g.35814631C>A | CA450125222 | LHFPL5 | c.498C>A (p.Gly166=) n.277C>A c.*70-4806C>A (n.*70-4806C>A) c.330C>A (p.Gly110=) | |
6 | g.35814631C= | CA1621066434 | LHFPL5 | c.498C= (p.Gly166=) n.277C= c.*70-4806C= (n.*70-4806C=) c.330C= (p.Gly110=) | |
6 | g.35814631C>G | CA3774427 | LHFPL5 | c.498C>G (p.Gly166=) n.277C>G c.*70-4806C>G (n.*70-4806C>G) c.330C>G (p.Gly110=) | dbSNP ExAC |
6 | g.35814631C>T | CA450125223 | LHFPL5 | c.498C>T (p.Gly166=) n.277C>T c.*70-4806C>T (n.*70-4806C>T) c.330C>T (p.Gly110=) | gnomAD v4 |
6 | g.35814632A= | CA1621066435 | LHFPL5 | c.499A= (p.Lys167=) n.278A= c.*70-4805A= (n.*70-4805A=) c.331A= (p.Lys111=) | |
6 | g.35814632A>C | CA3774428 | LHFPL5 | c.499A>C (p.Lys167Gln) n.278A>C c.*70-4805A>C (n.*70-4805A>C) c.331A>C (p.Lys111Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814632A>G | CA363785906 | LHFPL5 | c.499A>G (p.Lys167Glu) n.278A>G c.*70-4805A>G (n.*70-4805A>G) c.331A>G (p.Lys111Glu) | gnomAD v4 |
6 | g.35814632A>T | CA363785908 | LHFPL5 | c.499A>T (p.Lys167Ter) n.278A>T c.*70-4805A>T (n.*70-4805A>T) c.331A>T (p.Lys111Ter) | |
6 | g.35814633A>C | CA363785910 | LHFPL5 | c.500A>C (p.Lys167Thr) n.279A>C c.*70-4804A>C (n.*70-4804A>C) c.332A>C (p.Lys111Thr) | |
6 | g.35814633A>G | CA363785911 | LHFPL5 | c.500A>G (p.Lys167Arg) n.279A>G c.*70-4804A>G (n.*70-4804A>G) c.332A>G (p.Lys111Arg) | |
6 | g.35814633A>T | CA363785912 | LHFPL5 | c.500A>T (p.Lys167Met) n.279A>T c.*70-4804A>T (n.*70-4804A>T) c.332A>T (p.Lys111Met) | |
6 | g.35814634G>A | CA450125224 | LHFPL5 | c.501G>A (p.Lys167=) n.280G>A c.*70-4803G>A (n.*70-4803G>A) c.333G>A (p.Lys111=) | |
6 | g.35814634G>C | CA363785914 | LHFPL5 | c.501G>C (p.Lys167Asn) n.280G>C c.*70-4803G>C (n.*70-4803G>C) c.333G>C (p.Lys111Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814634G= | CA1621066436 | LHFPL5 | c.501G= (p.Lys167=) n.280G= c.*70-4803G= (n.*70-4803G=) c.333G= (p.Lys111=) | |
6 | g.35814634G>T | CA363785916 | LHFPL5 | c.501G>T (p.Lys167Asn) n.280G>T c.*70-4803G>T (n.*70-4803G>T) c.333G>T (p.Lys111Asn) | |
6 | g.35814635T>A | CA363785917 | LHFPL5 | c.502T>A (p.Tyr168Asn) n.281T>A c.*70-4802T>A (n.*70-4802T>A) c.334T>A (p.Tyr112Asn) | |
6 | g.35814635T>C | CA363785919 | LHFPL5 | c.502T>C (p.Tyr168His) n.281T>C c.*70-4802T>C (n.*70-4802T>C) c.334T>C (p.Tyr112His) | gnomAD v4 |
6 | g.35814635T>G | CA363785921 | LHFPL5 | c.502T>G (p.Tyr168Asp) n.281T>G c.*70-4802T>G (n.*70-4802T>G) c.334T>G (p.Tyr112Asp) | |
6 | g.35814636A= | CA1621066437 | LHFPL5 | c.503A= (p.Tyr168=) n.282A= c.*70-4801A= (n.*70-4801A=) c.335A= (p.Tyr112=) | |
6 | g.35814636A>C | CA363785923 | LHFPL5 | c.503A>C (p.Tyr168Ser) n.282A>C c.*70-4801A>C (n.*70-4801A>C) c.335A>C (p.Tyr112Ser) | |
6 | g.35814636A>G | CA363785924 | LHFPL5 | c.503A>G (p.Tyr168Cys) n.282A>G c.*70-4801A>G (n.*70-4801A>G) c.335A>G (p.Tyr112Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814636A>T | CA363785926 | LHFPL5 | c.503A>T (p.Tyr168Phe) n.282A>T c.*70-4801A>T (n.*70-4801A>T) c.335A>T (p.Tyr112Phe) | |
6 | g.35814637C>A | CA363785928 | LHFPL5 | c.504C>A (p.Tyr168Ter) n.283C>A c.*70-4800C>A (n.*70-4800C>A) c.336C>A (p.Tyr112Ter) | |
6 | g.35814637C= | CA1621066438 | LHFPL5 | c.504C= (p.Tyr168=) n.283C= c.*70-4800C= (n.*70-4800C=) c.336C= (p.Tyr112=) | |
6 | g.35814637C>G | CA363785930 | LHFPL5 | c.504C>G (p.Tyr168Ter) n.283C>G c.*70-4800C>G (n.*70-4800C>G) c.336C>G (p.Tyr112Ter) | ClinVar dbSNP |
6 | g.35814637C>T | CA450125225 | LHFPL5 | c.504C>T (p.Tyr168=) n.283C>T c.*70-4800C>T (n.*70-4800C>T) c.336C>T (p.Tyr112=) | dbSNP gnomAD v4 |
6 | g.35814638A>C | CA363785931 | LHFPL5 | c.505A>C (p.Thr169Pro) n.284A>C c.*70-4799A>C (n.*70-4799A>C) c.337A>C (p.Thr113Pro) | |
6 | g.35814638A>G | CA363785932 | LHFPL5 | c.505A>G (p.Thr169Ala) n.284A>G c.*70-4799A>G (n.*70-4799A>G) c.337A>G (p.Thr113Ala) | |
6 | g.35814638A>T | CA363785934 | LHFPL5 | c.505A>T (p.Thr169Ser) n.284A>T c.*70-4799A>T (n.*70-4799A>T) c.337A>T (p.Thr113Ser) | |
6 | g.35814639C>A | CA363785938 | LHFPL5 | c.506C>A (p.Thr169Lys) n.285C>A c.*70-4798C>A (n.*70-4798C>A) c.338C>A (p.Thr113Lys) | |
6 | g.35814639C= | CA1621066439 | LHFPL5 | c.506C= (p.Thr169=) n.285C= c.*70-4798C= (n.*70-4798C=) c.338C= (p.Thr113=) | |
6 | g.35814639C>G | CA363785936 | LHFPL5 | c.506C>G (p.Thr169Arg) n.285C>G c.*70-4798C>G (n.*70-4798C>G) c.338C>G (p.Thr113Arg) | |
6 | g.35814639C>T | CA3774429 | LHFPL5 | c.506C>T (p.Thr169Met) n.285C>T c.*70-4798C>T (n.*70-4798C>T) c.338C>T (p.Thr113Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814640G>A | CA3774430 | LHFPL5 | c.507G>A (p.Thr169=) n.286G>A c.*70-4797G>A (n.*70-4797G>A) c.339G>A (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814640G>C | CA450125227 | LHFPL5 | c.507G>C (p.Thr169=) n.286G>C c.*70-4797G>C (n.*70-4797G>C) c.339G>C (p.Thr113=) | |
6 | g.35814640G= | CA1621066440 | LHFPL5 | c.507G= (p.Thr169=) n.286G= c.*70-4797G= (n.*70-4797G=) c.339G= (p.Thr113=) | |
6 | g.35814640G>T | CA450125226 | LHFPL5 | c.507G>T (p.Thr169=) n.286G>T c.*70-4797G>T (n.*70-4797G>T) c.339G>T (p.Thr113=) | |
6 | g.35814641C>A | CA363785940 | LHFPL5 | c.508C>A (p.Leu170Met) n.287C>A c.*70-4796C>A (n.*70-4796C>A) c.340C>A (p.Leu114Met) | |
6 | g.35814641C>G | CA363785942 | LHFPL5 | c.508C>G (p.Leu170Val) n.287C>G c.*70-4796C>G (n.*70-4796C>G) c.340C>G (p.Leu114Val) | |
6 | g.35814641C>T | CA450125228 | LHFPL5 | c.508C>T (p.Leu170=) n.287C>T c.*70-4796C>T (n.*70-4796C>T) c.340C>T (p.Leu114=) | |
6 | g.35814642T>A | CA3774431 | LHFPL5 | c.509T>A (p.Leu170Gln) n.288T>A c.*70-4795T>A (n.*70-4795T>A) c.341T>A (p.Leu114Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814642T>C | CA363785945 | LHFPL5 | c.509T>C (p.Leu170Pro) n.288T>C c.*70-4795T>C (n.*70-4795T>C) c.341T>C (p.Leu114Pro) | |
6 | g.35814642T>G | CA363785947 | LHFPL5 | c.509T>G (p.Leu170Arg) n.288T>G c.*70-4795T>G (n.*70-4795T>G) c.341T>G (p.Leu114Arg) | |
6 | g.35814642T= | CA1621066441 | LHFPL5 | c.509T= (p.Leu170=) n.288T= c.*70-4795T= (n.*70-4795T=) c.341T= (p.Leu114=) | |
6 | g.35814643G>A | CA450125229 | LHFPL5 | c.510G>A (p.Leu170=) n.289G>A c.*70-4794G>A (n.*70-4794G>A) c.342G>A (p.Leu114=) | |
6 | g.35814643G>C | CA450125230 | LHFPL5 | c.510G>C (p.Leu170=) n.289G>C c.*70-4794G>C (n.*70-4794G>C) c.342G>C (p.Leu114=) | |
6 | g.35814643G>T | CA450125231 | LHFPL5 | c.510G>T (p.Leu170=) n.289G>T c.*70-4794G>T (n.*70-4794G>T) c.342G>T (p.Leu114=) | |
6 | g.35814644G>A | CA363785948 | LHFPL5 | c.511G>A (p.Gly171Ser) n.290G>A c.*70-4793G>A (n.*70-4793G>A) c.343G>A (p.Gly115Ser) | ClinVar dbSNP gnomAD v4 |
6 | g.35814644G>C | CA363785950 | LHFPL5 | c.511G>C (p.Gly171Arg) n.290G>C c.*70-4793G>C (n.*70-4793G>C) c.343G>C (p.Gly115Arg) | |
6 | g.35814644G>T | CA363785952 | LHFPL5 | c.511G>T (p.Gly171Cys) n.290G>T c.*70-4793G>T (n.*70-4793G>T) c.343G>T (p.Gly115Cys) | |
6 | g.35814645G>A | CA363785954 | LHFPL5 | c.512G>A (p.Gly171Asp) n.291G>A c.*70-4792G>A (n.*70-4792G>A) c.344G>A (p.Gly115Asp) | |
6 | g.35814645G>C | CA363785955 | LHFPL5 | c.512G>C (p.Gly171Ala) n.291G>C c.*70-4792G>C (n.*70-4792G>C) c.344G>C (p.Gly115Ala) | |
6 | g.35814645G>T | CA363785957 | LHFPL5 | c.512G>T (p.Gly171Val) n.291G>T c.*70-4792G>T (n.*70-4792G>T) c.344G>T (p.Gly115Val) | |
6 | g.35814646C>A | CA450125232 | LHFPL5 | c.513C>A (p.Gly171=) n.292C>A c.*70-4791C>A (n.*70-4791C>A) c.345C>A (p.Gly115=) | gnomAD v4 |
6 | g.35814646C>G | CA450125234 | LHFPL5 | c.513C>G (p.Gly171=) n.292C>G c.*70-4791C>G (n.*70-4791C>G) c.345C>G (p.Gly115=) | |
6 | g.35814646C>T | CA450125233 | LHFPL5 | c.513C>T (p.Gly171=) n.292C>T c.*70-4791C>T (n.*70-4791C>T) c.345C>T (p.Gly115=) | |
6 | g.35814647C>A | CA363785961 | LHFPL5 | c.514C>A (p.His172Asn) n.293C>A c.*70-4790C>A (n.*70-4790C>A) c.346C>A (p.His116Asn) | |
6 | g.35814647C>G | CA363785962 | LHFPL5 | c.514C>G (p.His172Asp) n.293C>G c.*70-4790C>G (n.*70-4790C>G) c.346C>G (p.His116Asp) | |
6 | g.35814647C>T | CA363785959 | LHFPL5 | c.514C>T (p.His172Tyr) n.293C>T c.*70-4790C>T (n.*70-4790C>T) c.346C>T (p.His116Tyr) | |
6 | g.35814648A= | CA1621066442 | LHFPL5 | c.515A= (p.His172=) n.294A= c.*70-4789A= (n.*70-4789A=) c.347A= (p.His116=) | |
6 | g.35814648A>C | CA363785965 | LHFPL5 | c.515A>C (p.His172Pro) n.294A>C c.*70-4789A>C (n.*70-4789A>C) c.347A>C (p.His116Pro) | |
6 | g.35814648A>G | CA363785966 | LHFPL5 | c.515A>G (p.His172Arg) n.294A>G c.*70-4789A>G (n.*70-4789A>G) c.347A>G (p.His116Arg) | dbSNP |
6 | g.35814648A>T | CA363785967 | LHFPL5 | c.515A>T (p.His172Leu) n.294A>T c.*70-4789A>T (n.*70-4789A>T) c.347A>T (p.His116Leu) | |
6 | g.35814649C>A | CA363785970 | LHFPL5 | c.516C>A (p.His172Gln) n.295C>A c.*70-4788C>A (n.*70-4788C>A) c.348C>A (p.His116Gln) | |
6 | g.35814649C>G | CA363785971 | LHFPL5 | c.516C>G (p.His172Gln) n.295C>G c.*70-4788C>G (n.*70-4788C>G) c.348C>G (p.His116Gln) | |
6 | g.35814649C>T | CA450125235 | LHFPL5 | c.516C>T (p.His172=) n.295C>T c.*70-4788C>T (n.*70-4788C>T) c.348C>T (p.His116=) | |
6 | g.35814650T>A | CA363785976 | LHFPL5 | c.517T>A (p.Cys173Ser) n.296T>A c.*70-4787T>A (n.*70-4787T>A) c.349T>A (p.Cys117Ser) | |
6 | g.35814650T>C | CA363785973 | LHFPL5 | c.517T>C (p.Cys173Arg) n.296T>C c.*70-4787T>C (n.*70-4787T>C) c.349T>C (p.Cys117Arg) | |
6 | g.35814650T>G | CA363785974 | LHFPL5 | c.517T>G (p.Cys173Gly) n.296T>G c.*70-4787T>G (n.*70-4787T>G) c.349T>G (p.Cys117Gly) | |
6 | g.35814651G>A | CA363785978 | LHFPL5 | c.518G>A (p.Cys173Tyr) n.297G>A c.*70-4786G>A (n.*70-4786G>A) c.350G>A (p.Cys117Tyr) | |
6 | g.35814651G>C | CA363785980 | LHFPL5 | c.518G>C (p.Cys173Ser) n.297G>C c.*70-4786G>C (n.*70-4786G>C) c.350G>C (p.Cys117Ser) | gnomAD v4 |
6 | g.35814651G>T | CA363785981 | LHFPL5 | c.518G>T (p.Cys173Phe) n.297G>T c.*70-4786G>T (n.*70-4786G>T) c.350G>T (p.Cys117Phe) | |
6 | g.35814652C>A | CA363785983 | LHFPL5 | c.519C>A (p.Cys173Ter) n.298C>A c.*70-4785C>A (n.*70-4785C>A) c.351C>A (p.Cys117Ter) | |
6 | g.35814652C>G | CA363785985 | LHFPL5 | c.519C>G (p.Cys173Trp) n.298C>G c.*70-4785C>G (n.*70-4785C>G) c.351C>G (p.Cys117Trp) | |
6 | g.35814652C>T | CA450125236 | LHFPL5 | c.519C>T (p.Cys173=) n.298C>T c.*70-4785C>T (n.*70-4785C>T) c.351C>T (p.Cys117=) | |
6 | g.35814653A= | CA1621066443 | LHFPL5 | c.520A= (p.Thr174=) n.299A= c.*70-4784A= (n.*70-4784A=) c.352A= (p.Thr118=) | |
6 | g.35814653A>C | CA363785988 | LHFPL5 | c.520A>C (p.Thr174Pro) n.299A>C c.*70-4784A>C (n.*70-4784A>C) c.352A>C (p.Thr118Pro) | dbSNP gnomAD v4 |
6 | g.35814653A>G | CA363785987 | LHFPL5 | c.520A>G (p.Thr174Ala) n.299A>G c.*70-4784A>G (n.*70-4784A>G) c.352A>G (p.Thr118Ala) | |
6 | g.35814653A>T | CA363785986 | LHFPL5 | c.520A>T (p.Thr174Ser) n.299A>T c.*70-4784A>T (n.*70-4784A>T) c.352A>T (p.Thr118Ser) | |
6 | g.35814654C>A | CA363785990 | LHFPL5 | c.521C>A (p.Thr174Asn) n.300C>A c.*70-4783C>A (n.*70-4783C>A) c.353C>A (p.Thr118Asn) | |
6 | g.35814654C= | CA1621066444 | LHFPL5 | c.521C= (p.Thr174=) n.300C= c.*70-4783C= (n.*70-4783C=) c.353C= (p.Thr118=) | |
6 | g.35814654C>G | CA363785993 | LHFPL5 | c.521C>G (p.Thr174Ser) n.300C>G c.*70-4783C>G (n.*70-4783C>G) c.353C>G (p.Thr118Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814654C>T | CA363785992 | LHFPL5 | c.521C>T (p.Thr174Ile) n.300C>T c.*70-4783C>T (n.*70-4783C>T) c.353C>T (p.Thr118Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814655C>A | CA450125238 | LHFPL5 | c.522C>A (p.Thr174=) n.301C>A c.*70-4782C>A (n.*70-4782C>A) c.354C>A (p.Thr118=) | |
6 | g.35814655C= | CA1621066445 | LHFPL5 | c.522C= (p.Thr174=) n.301C= c.*70-4782C= (n.*70-4782C=) c.354C= (p.Thr118=) | |
6 | g.35814655C>G | CA450125237 | LHFPL5 | c.522C>G (p.Thr174=) n.301C>G c.*70-4782C>G (n.*70-4782C>G) c.354C>G (p.Thr118=) | gnomAD v4 |
6 | g.35814655C>T | CA137310688 | LHFPL5 | c.522C>T (p.Thr174=) n.301C>T c.*70-4782C>T (n.*70-4782C>T) c.354C>T (p.Thr118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814656A= | CA1621066446 | LHFPL5 | c.523A= (p.Ile175=) n.302A= c.*70-4781A= (n.*70-4781A=) c.355A= (p.Ile119=) | |
6 | g.35814656A>C | CA363785995 | LHFPL5 | c.523A>C (p.Ile175Leu) n.302A>C c.*70-4781A>C (n.*70-4781A>C) c.355A>C (p.Ile119Leu) | |
6 | g.35814656A>G | CA363785999 | LHFPL5 | c.523A>G (p.Ile175Val) n.302A>G c.*70-4781A>G (n.*70-4781A>G) c.355A>G (p.Ile119Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35814656A>T | CA363785997 | LHFPL5 | c.523A>T (p.Ile175Phe) n.302A>T c.*70-4781A>T (n.*70-4781A>T) c.355A>T (p.Ile119Phe) | |
6 | g.35814657T>A | CA363786000 | LHFPL5 | c.524T>A (p.Ile175Asn) n.303T>A c.*70-4780T>A (n.*70-4780T>A) c.356T>A (p.Ile119Asn) | |
6 | g.35814657T>C | CA363786004 | LHFPL5 | c.524T>C (p.Ile175Thr) n.303T>C c.*70-4780T>C (n.*70-4780T>C) c.356T>C (p.Ile119Thr) | |
6 | g.35814657T>G | CA363786002 | LHFPL5 | c.524T>G (p.Ile175Ser) n.303T>G c.*70-4780T>G (n.*70-4780T>G) c.356T>G (p.Ile119Ser) | |
6 | g.35814658C>A | CA3774433 | LHFPL5 | c.525C>A (p.Ile175=) n.304C>A c.*70-4779C>A (n.*70-4779C>A) c.357C>A (p.Ile119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35814658C= | CA1621066447 | LHFPL5 | c.525C= (p.Ile175=) n.304C= c.*70-4779C= (n.*70-4779C=) c.357C= (p.Ile119=) | |
6 | g.35814658C>G | CA363786007 | LHFPL5 | c.525C>G (p.Ile175Met) n.304C>G c.*70-4779C>G (n.*70-4779C>G) c.357C>G (p.Ile119Met) | |
6 | g.35814658C>T | CA3774432 | LHFPL5 | c.525C>T (p.Ile175=) n.304C>T c.*70-4779C>T (n.*70-4779C>T) c.357C>T (p.Ile119=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814659del | CA2678433169 | LHFPL5 | c.526del (p.Arg176AlafsTer?) n.305del c.*70-4778del (n.*70-4778del) c.358del (p.Arg120AlafsTer?) | gnomAD v4 |
6 | g.35814659C>A | CA363786009 | LHFPL5 | c.526C>A (p.Arg176Ser) n.305C>A c.*70-4778C>A (n.*70-4778C>A) c.358C>A (p.Arg120Ser) | |
6 | g.35814659C= | CA1621066448 | LHFPL5 | c.526C= (p.Arg176=) n.305C= c.*70-4778C= (n.*70-4778C=) c.358C= (p.Arg120=) | |
6 | g.35814659C>G | CA363786010 | LHFPL5 | c.526C>G (p.Arg176Gly) n.305C>G c.*70-4778C>G (n.*70-4778C>G) c.358C>G (p.Arg120Gly) | |
6 | g.35814659C>T | CA3774434 | LHFPL5 | c.526C>T (p.Arg176Cys) n.305C>T c.*70-4778C>T (n.*70-4778C>T) c.358C>T (p.Arg120Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35814659_35814672delinsCGCTGGGCCTTCAT | CA1621066449 | LHFPL5 | c.526_539delinsCGCTGGGCCTTCAT (p.Arg176=) n.305_318delinsCGCTGGGCCTTCAT c.*70-4778_*70-4765delinsCGCTGGGCCTTCAT (n.*70-4778_*70-4765delinsCGCTGGGCCTTCAT) c.358_371delinsCGCTGGGCCTTCAT (p.Arg120=) | |
6 | g.35814660G>A | CA3774435 | LHFPL5 | c.527G>A (p.Arg176His) n.306G>A c.*70-4777G>A (n.*70-4777G>A) c.359G>A (p.Arg120His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814660G>C | CA363786012 | LHFPL5 | c.527G>C (p.Arg176Pro) n.306G>C c.*70-4777G>C (n.*70-4777G>C) c.359G>C (p.Arg120Pro) | |
6 | g.35814660G= | CA1621066451 | LHFPL5 | c.527G= (p.Arg176=) n.306G= c.*70-4777G= (n.*70-4777G=) c.359G= (p.Arg120=) | |
6 | g.35814660G>T | CA363786014 | LHFPL5 | c.527G>T (p.Arg176Leu) n.306G>T c.*70-4777G>T (n.*70-4777G>T) c.359G>T (p.Arg120Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.35814665_35814677del | CA1621066450 | LHFPL5 | c.532_544del (p.Ala178ProfsTer?) n.311_323del c.*70-4772_*70-4760del (n.*70-4772_*70-4760del) c.364_376del (p.Ala122ProfsTer?) | dbSNP |
6 | g.35814661C>A | CA450125239 | LHFPL5 | c.528C>A (p.Arg176=) n.307C>A c.*70-4776C>A (n.*70-4776C>A) c.360C>A (p.Arg120=) | |
6 | g.35814661C>G | CA450125240 | LHFPL5 | c.528C>G (p.Arg176=) n.307C>G c.*70-4776C>G (n.*70-4776C>G) c.360C>G (p.Arg120=) | |
6 | g.35814661C>T | CA450125241 | LHFPL5 | c.528C>T (p.Arg176=) n.307C>T c.*70-4776C>T (n.*70-4776C>T) c.360C>T (p.Arg120=) | gnomAD v4 |
6 | g.35814662T>A | CA363786016 | LHFPL5 | c.529T>A (p.Trp177Arg) n.308T>A c.*70-4775T>A (n.*70-4775T>A) c.361T>A (p.Trp121Arg) | |
6 | g.35814662T>C | CA363786018 | LHFPL5 | c.529T>C (p.Trp177Arg) n.308T>C c.*70-4775T>C (n.*70-4775T>C) c.361T>C (p.Trp121Arg) | |
6 | g.35814662T>G | CA363786020 | LHFPL5 | c.529T>G (p.Trp177Gly) n.308T>G c.*70-4775T>G (n.*70-4775T>G) c.361T>G (p.Trp121Gly) | |
6 | g.35814663G>A | CA363786022 | LHFPL5 | c.530G>A (p.Trp177Ter) n.309G>A c.*70-4774G>A (n.*70-4774G>A) c.362G>A (p.Trp121Ter) | |
6 | g.35814663G>C | CA363786024 | LHFPL5 | c.530G>C (p.Trp177Ser) n.309G>C c.*70-4774G>C (n.*70-4774G>C) c.362G>C (p.Trp121Ser) | |
6 | g.35814663G>T | CA363786025 | LHFPL5 | c.530G>T (p.Trp177Leu) n.309G>T c.*70-4774G>T (n.*70-4774G>T) c.362G>T (p.Trp121Leu) | |
6 | g.35814664G>A | CA137310702 | LHFPL5 | c.531G>A (p.Trp177Ter) n.310G>A c.*70-4773G>A (n.*70-4773G>A) c.363G>A (p.Trp121Ter) | dbSNP |
6 | g.35814664G>C | CA363786028 | LHFPL5 | c.531G>C (p.Trp177Cys) n.310G>C c.*70-4773G>C (n.*70-4773G>C) c.363G>C (p.Trp121Cys) | |
6 | g.35814664G= | CA1621066452 | LHFPL5 | c.531G= (p.Trp177=) n.310G= c.*70-4773G= (n.*70-4773G=) c.363G= (p.Trp121=) | |
6 | g.35814664G>T | CA363786030 | LHFPL5 | c.531G>T (p.Trp177Cys) n.310G>T c.*70-4773G>T (n.*70-4773G>T) c.363G>T (p.Trp121Cys) | |
6 | g.35814665G>A | CA363786031 | LHFPL5 | c.532G>A (p.Ala178Thr) n.311G>A c.*70-4772G>A (n.*70-4772G>A) c.364G>A (p.Ala122Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35814665G>C | CA363786035 | LHFPL5 | c.532G>C (p.Ala178Pro) n.311G>C c.*70-4772G>C (n.*70-4772G>C) c.364G>C (p.Ala122Pro) | gnomAD v4 |
6 | g.35814665G= | CA1621066453 | LHFPL5 | c.532G= (p.Ala178=) n.311G= c.*70-4772G= (n.*70-4772G=) c.364G= (p.Ala122=) | |
6 | g.35814665G>T | CA363786033 | LHFPL5 | c.532G>T (p.Ala178Ser) n.311G>T c.*70-4772G>T (n.*70-4772G>T) c.364G>T (p.Ala122Ser) | |
6 | g.35814666C>A | CA363786037 | LHFPL5 | c.533C>A (p.Ala178Asp) n.312C>A c.*70-4771C>A (n.*70-4771C>A) c.365C>A (p.Ala122Asp) | |
6 | g.35814666C>G | CA363786039 | LHFPL5 | c.533C>G (p.Ala178Gly) n.312C>G c.*70-4771C>G (n.*70-4771C>G) c.365C>G (p.Ala122Gly) | |
6 | g.35814666C>T | CA363786040 | LHFPL5 | c.533C>T (p.Ala178Val) n.312C>T c.*70-4771C>T (n.*70-4771C>T) c.365C>T (p.Ala122Val) | |
6 | g.35814667C>A | CA450125242 | LHFPL5 | c.534C>A (p.Ala178=) n.313C>A c.*70-4770C>A (n.*70-4770C>A) c.366C>A (p.Ala122=) | |
6 | g.35814667C>G | CA450125243 | LHFPL5 | c.534C>G (p.Ala178=) n.313C>G c.*70-4770C>G (n.*70-4770C>G) c.366C>G (p.Ala122=) | |
6 | g.35814667C>T | CA450125244 | LHFPL5 | c.534C>T (p.Ala178=) n.313C>T c.*70-4770C>T (n.*70-4770C>T) c.366C>T (p.Ala122=) | |
6 | g.35814668T>A | CA363786042 | LHFPL5 | c.535T>A (p.Phe179Ile) n.314T>A c.*70-4769T>A (n.*70-4769T>A) c.367T>A (p.Phe123Ile) | |
6 | g.35814668T>C | CA363786043 | LHFPL5 | c.535T>C (p.Phe179Leu) n.314T>C c.*70-4769T>C (n.*70-4769T>C) c.367T>C (p.Phe123Leu) | |
6 | g.35814668T>G | CA363786045 | LHFPL5 | c.535T>G (p.Phe179Val) n.314T>G c.*70-4769T>G (n.*70-4769T>G) c.367T>G (p.Phe123Val) | |
6 | g.35814669T>A | CA363786047 | LHFPL5 | c.536T>A (p.Phe179Tyr) n.315T>A c.*70-4768T>A (n.*70-4768T>A) c.368T>A (p.Phe123Tyr) | |
6 | g.35814669T>C | CA363786049 | LHFPL5 | c.536T>C (p.Phe179Ser) n.315T>C c.*70-4768T>C (n.*70-4768T>C) c.368T>C (p.Phe123Ser) | gnomAD v4 |
6 | g.35814669T>G | CA363786050 | LHFPL5 | c.536T>G (p.Phe179Cys) n.315T>G c.*70-4768T>G (n.*70-4768T>G) c.368T>G (p.Phe123Cys) | |
6 | g.35814670C>A | CA363786053 | LHFPL5 | c.537C>A (p.Phe179Leu) n.316C>A c.*70-4767C>A (n.*70-4767C>A) c.369C>A (p.Phe123Leu) | |
6 | g.35814670C>G | CA363786052 | LHFPL5 | c.537C>G (p.Phe179Leu) n.316C>G c.*70-4767C>G (n.*70-4767C>G) c.369C>G (p.Phe123Leu) | |
6 | g.35814670C>T | CA450125245 | LHFPL5 | c.537C>T (p.Phe179=) n.316C>T c.*70-4767C>T (n.*70-4767C>T) c.369C>T (p.Phe123=) | gnomAD v4 |
6 | g.35814671A= | CA1621066454 | LHFPL5 | c.538A= (p.Met180=) n.317A= c.*70-4766A= (n.*70-4766A=) c.370A= (p.Met124=) | |
6 | g.35814671A>C | CA363786056 | LHFPL5 | c.538A>C (p.Met180Leu) n.317A>C c.*70-4766A>C (n.*70-4766A>C) c.370A>C (p.Met124Leu) | gnomAD v4 |
6 | g.35814671A>G | CA363786057 | LHFPL5 | c.538A>G (p.Met180Val) n.317A>G c.*70-4766A>G (n.*70-4766A>G) c.370A>G (p.Met124Val) | dbSNP |
6 | g.35814671A>T | CA363786059 | LHFPL5 | c.538A>T (p.Met180Leu) n.317A>T c.*70-4766A>T (n.*70-4766A>T) c.370A>T (p.Met124Leu) | |
6 | g.35814672T>A | CA363786061 | LHFPL5 | c.539T>A (p.Met180Lys) n.318T>A c.*70-4765T>A (n.*70-4765T>A) c.371T>A (p.Met124Lys) | |
6 | g.35814672T>C | CA363786062 | LHFPL5 | c.539T>C (p.Met180Thr) n.318T>C c.*70-4765T>C (n.*70-4765T>C) c.371T>C (p.Met124Thr) | dbSNP gnomAD v4 |
6 | g.35814672T>G | CA363786064 | LHFPL5 | c.539T>G (p.Met180Arg) n.318T>G c.*70-4765T>G (n.*70-4765T>G) c.371T>G (p.Met124Arg) | |
6 | g.35814672T= | CA1621066455 | LHFPL5 | c.539T= (p.Met180=) n.318T= c.*70-4765T= (n.*70-4765T=) c.371T= (p.Met124=) |