Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47222374C>A | CA2739549528 | MYL4 | c.488-6C>A (n.488-6C>A) c.199-6C>A c.*274-6C>A (n.*274-6C>A) c.*90-6C>A (n.*90-6C>A) c.278-6C>A (n.278-6C>A) c.581-6C>A (n.581-6C>A) | |
17 | g.47222374C>G | CA2739549529 | MYL4 | c.488-6C>G (n.488-6C>G) c.199-6C>G c.*274-6C>G (n.*274-6C>G) c.*90-6C>G (n.*90-6C>G) c.278-6C>G (n.278-6C>G) c.581-6C>G (n.581-6C>G) | |
17 | g.47222374C>T | CA2739549530 | MYL4 | c.488-6C>T (n.488-6C>T) c.199-6C>T c.*274-6C>T (n.*274-6C>T) c.*90-6C>T (n.*90-6C>T) c.278-6C>T (n.278-6C>T) c.581-6C>T (n.581-6C>T) | |
17 | g.47222375C= | CA2262578036 | MYL4 | c.488-5C= (n.488-5C=) c.199-5C= c.*274-5C= (n.*274-5C=) c.*90-5C= (n.*90-5C=) c.278-5C= (n.278-5C=) c.581-5C= (n.581-5C=) | |
17 | g.47222375C>T | CA8622774 | MYL4 | c.488-5C>T (n.488-5C>T) c.199-5C>T c.*274-5C>T (n.*274-5C>T) c.*90-5C>T (n.*90-5C>T) c.278-5C>T (n.278-5C>T) c.581-5C>T (n.581-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222376G>A | CA8622775 | MYL4 | c.488-4G>A (n.488-4G>A) c.199-4G>A c.*274-4G>A (n.*274-4G>A) c.*90-4G>A (n.*90-4G>A) c.278-4G>A (n.278-4G>A) c.581-4G>A (n.581-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222376G>C | CA2739549531 | MYL4 | c.488-4G>C (n.488-4G>C) c.199-4G>C c.*274-4G>C (n.*274-4G>C) c.*90-4G>C (n.*90-4G>C) c.278-4G>C (n.278-4G>C) c.581-4G>C (n.581-4G>C) | |
17 | g.47222376G= | CA2262578037 | MYL4 | c.488-4G= (n.488-4G=) c.199-4G= c.*274-4G= (n.*274-4G=) c.*90-4G= (n.*90-4G=) c.278-4G= (n.278-4G=) c.581-4G= (n.581-4G=) | |
17 | g.47222376G>T | CA984207679 | MYL4 | c.488-4G>T (n.488-4G>T) c.199-4G>T c.*274-4G>T (n.*274-4G>T) c.*90-4G>T (n.*90-4G>T) c.278-4G>T (n.278-4G>T) c.581-4G>T (n.581-4G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47222377C>A | CA2739549532 | MYL4 | c.488-3C>A (n.488-3C>A) c.199-3C>A c.*274-3C>A (n.*274-3C>A) c.*90-3C>A (n.*90-3C>A) c.278-3C>A (n.278-3C>A) c.581-3C>A (n.581-3C>A) | |
17 | g.47222377C= | CA2262578038 | MYL4 | c.488-3C= (n.488-3C=) c.199-3C= c.*274-3C= (n.*274-3C=) c.*90-3C= (n.*90-3C=) c.278-3C= (n.278-3C=) c.581-3C= (n.581-3C=) | |
17 | g.47222377C>G | CA2739549533 | MYL4 | c.488-3C>G (n.488-3C>G) c.199-3C>G c.*274-3C>G (n.*274-3C>G) c.*90-3C>G (n.*90-3C>G) c.278-3C>G (n.278-3C>G) c.581-3C>G (n.581-3C>G) | |
17 | g.47222377C>T | CA2262578039 | MYL4 | c.488-3C>T (n.488-3C>T) c.199-3C>T c.*274-3C>T (n.*274-3C>T) c.*90-3C>T (n.*90-3C>T) c.278-3C>T (n.278-3C>T) c.581-3C>T (n.581-3C>T) | dbSNP |
17 | g.47222378A>C | CA400022824 | MYL4 | c.488-2A>C (n.488-2A>C) c.199-2A>C c.*274-2A>C (n.*274-2A>C) c.*90-2A>C (n.*90-2A>C) c.278-2A>C (n.278-2A>C) c.581-2A>C (n.581-2A>C) | |
17 | g.47222378A>G | CA400022826 | MYL4 | c.488-2A>G (n.488-2A>G) c.199-2A>G c.*274-2A>G (n.*274-2A>G) c.*90-2A>G (n.*90-2A>G) c.278-2A>G (n.278-2A>G) c.581-2A>G (n.581-2A>G) | |
17 | g.47222378A>T | CA400022828 | MYL4 | c.488-2A>T (n.488-2A>T) c.199-2A>T c.*274-2A>T (n.*274-2A>T) c.*90-2A>T (n.*90-2A>T) c.278-2A>T (n.278-2A>T) c.581-2A>T (n.581-2A>T) | |
17 | g.47222379G>A | CA8622776 | MYL4 | c.488-1G>A (n.488-1G>A) c.199-1G>A c.*274-1G>A (n.*274-1G>A) c.*90-1G>A (n.*90-1G>A) c.278-1G>A (n.278-1G>A) c.581-1G>A (n.581-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.47222379G>C | CA400022832 | MYL4 | c.488-1G>C (n.488-1G>C) c.199-1G>C c.*274-1G>C (n.*274-1G>C) c.*90-1G>C (n.*90-1G>C) c.278-1G>C (n.278-1G>C) c.581-1G>C (n.581-1G>C) | |
17 | g.47222379G= | CA2262578040 | MYL4 | c.488-1G= (n.488-1G=) c.199-1G= c.*274-1G= (n.*274-1G=) c.*90-1G= (n.*90-1G=) c.278-1G= (n.278-1G=) c.581-1G= (n.581-1G=) | |
17 | g.47222379G>T | CA400022831 | MYL4 | c.488-1G>T (n.488-1G>T) c.199-1G>T c.*274-1G>T (n.*274-1G>T) c.*90-1G>T (n.*90-1G>T) c.278-1G>T (n.278-1G>T) c.581-1G>T (n.581-1G>T) | |
17 | g.47222380G>A | CA400022833 | MYL4 | c.488G>A (p.Gly163Glu) c.199G>A c.*274G>A (n.*274G>A) c.*90G>A (n.*90G>A) c.278G>A (p.Gly93Glu) c.581G>A (p.Gly194Glu) | |
17 | g.47222380G>C | CA400022834 | MYL4 | c.488G>C (p.Gly163Ala) c.199G>C c.*274G>C (n.*274G>C) c.*90G>C (n.*90G>C) c.278G>C (p.Gly93Ala) c.581G>C (p.Gly194Ala) | gnomAD v4 |
17 | g.47222380G= | CA2262578041 | MYL4 | c.488G= (p.Gly163=) c.199G= c.*274G= (n.*274G=) c.*90G= (n.*90G=) c.278G= (p.Gly93=) c.581G= (p.Gly194=) | |
17 | g.47222380G>T | CA400022835 | MYL4 | c.488G>T (p.Gly163Val) c.199G>T c.*274G>T (n.*274G>T) c.*90G>T (n.*90G>T) c.278G>T (p.Gly93Val) c.581G>T (p.Gly194Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47222381A>C | CA500434321 | MYL4 | c.489A>C (p.Gly163=) c.200A>C c.*275A>C (n.*275A>C) c.*91A>C (n.*91A>C) c.279A>C (p.Gly93=) c.582A>C (p.Gly194=) | |
17 | g.47222381A>G | CA500434317 | MYL4 | c.489A>G (p.Gly163=) c.200A>G c.*275A>G (n.*275A>G) c.*91A>G (n.*91A>G) c.279A>G (p.Gly93=) c.582A>G (p.Gly194=) | |
17 | g.47222381A>T | CA500434323 | MYL4 | c.489A>T (p.Gly163=) c.200A>T c.*275A>T (n.*275A>T) c.*91A>T (n.*91A>T) c.279A>T (p.Gly93=) c.582A>T (p.Gly194=) | |
17 | g.47222382G>A | CA8622777 | MYL4 | c.490G>A (p.Glu164Lys) c.201G>A c.*276G>A (n.*276G>A) c.*92G>A (n.*92G>A) c.280G>A (p.Glu94Lys) c.583G>A (p.Glu195Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222382G>C | CA400022836 | MYL4 | c.490G>C (p.Glu164Gln) c.201G>C c.*276G>C (n.*276G>C) c.*92G>C (n.*92G>C) c.280G>C (p.Glu94Gln) c.583G>C (p.Glu195Gln) | |
17 | g.47222382G= | CA2262578043 | MYL4 | c.490G= (p.Glu164=) c.201G= c.*276G= (n.*276G=) c.*92G= (n.*92G=) c.280G= (p.Glu94=) c.583G= (p.Glu195=) | |
17 | g.47222382G>T | CA400022837 | MYL4 | c.490G>T (p.Glu164Ter) c.201G>T c.*276G>T (n.*276G>T) c.*92G>T (n.*92G>T) c.280G>T (p.Glu94Ter) c.583G>T (p.Glu195Ter) | |
17 | g.47222382_47222385delinsGAGA | CA2262578042 | MYL4 | c.490_493delinsGAGA (p.Glu164=) c.201_204delinsGAGA c.*276_*279delinsGAGA (n.*276_*279delinsGAGA) c.*92_*95delinsGAGA (n.*92_*95delinsGAGA) c.280_283delinsGAGA (p.Glu94=) c.583_586delinsGAGA (p.Glu195=) | |
17 | g.47222383A>C | CA400022838 | MYL4 | c.491A>C (p.Glu164Ala) c.202A>C c.*277A>C (n.*277A>C) c.*93A>C (n.*93A>C) c.281A>C (p.Glu94Ala) c.584A>C (p.Glu195Ala) | |
17 | g.47222383A>G | CA400022840 | MYL4 | c.491A>G (p.Glu164Gly) c.202A>G c.*277A>G (n.*277A>G) c.*93A>G (n.*93A>G) c.281A>G (p.Glu94Gly) c.584A>G (p.Glu195Gly) | |
17 | g.47222383A>T | CA400022839 | MYL4 | c.491A>T (p.Glu164Val) c.202A>T c.*277A>T (n.*277A>T) c.*93A>T (n.*93A>T) c.281A>T (p.Glu94Val) c.584A>T (p.Glu195Val) | |
17 | g.47222386_47222388del | CA8622778 | MYL4 | c.494_496del (p.Lys165del) c.205_207del c.*280_*282del (n.*280_*282del) c.*96_*98del (n.*96_*98del) c.284_286del (p.Lys95del) c.587_589del (p.Lys196del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47222384G>A | CA500434335 | MYL4 | c.492G>A (p.Glu164=) c.203G>A c.*278G>A (n.*278G>A) c.*94G>A (n.*94G>A) c.282G>A (p.Glu94=) c.585G>A (p.Glu195=) | dbSNP |
17 | g.47222384G>C | CA400022841 | MYL4 | c.492G>C (p.Glu164Asp) c.203G>C c.*278G>C (n.*278G>C) c.*94G>C (n.*94G>C) c.282G>C (p.Glu94Asp) c.585G>C (p.Glu195Asp) | |
17 | g.47222384G= | CA2262578044 | MYL4 | c.492G= (p.Glu164=) c.203G= c.*278G= (n.*278G=) c.*94G= (n.*94G=) c.282G= (p.Glu94=) c.585G= (p.Glu195=) | |
17 | g.47222384G>T | CA400022842 | MYL4 | c.492G>T (p.Glu164Asp) c.203G>T c.*278G>T (n.*278G>T) c.*94G>T (n.*94G>T) c.282G>T (p.Glu94Asp) c.585G>T (p.Glu195Asp) | |
17 | g.47222385A>C | CA400022843 | MYL4 | c.493A>C (p.Lys165Gln) c.204A>C c.*279A>C (n.*279A>C) c.*95A>C (n.*95A>C) c.283A>C (p.Lys95Gln) c.586A>C (p.Lys196Gln) | |
17 | g.47222385A>G | CA400022844 | MYL4 | c.493A>G (p.Lys165Glu) c.204A>G c.*279A>G (n.*279A>G) c.*95A>G (n.*95A>G) c.283A>G (p.Lys95Glu) c.586A>G (p.Lys196Glu) | |
17 | g.47222385A>T | CA400022845 | MYL4 | c.493A>T (p.Lys165Ter) c.204A>T c.*279A>T (n.*279A>T) c.*95A>T (n.*95A>T) c.283A>T (p.Lys95Ter) c.586A>T (p.Lys196Ter) | |
17 | g.47222386A= | CA2262578045 | MYL4 | c.494A= (p.Lys165=) c.205A= c.*280A= (n.*280A=) c.*96A= (n.*96A=) c.284A= (p.Lys95=) c.587A= (p.Lys196=) | |
17 | g.47222386A>C | CA400022846 | MYL4 | c.494A>C (p.Lys165Thr) c.205A>C c.*280A>C (n.*280A>C) c.*96A>C (n.*96A>C) c.284A>C (p.Lys95Thr) c.587A>C (p.Lys196Thr) | |
17 | g.47222386A>G | CA400022847 | MYL4 | c.494A>G (p.Lys165Arg) c.205A>G c.*280A>G (n.*280A>G) c.*96A>G (n.*96A>G) c.284A>G (p.Lys95Arg) c.587A>G (p.Lys196Arg) | gnomAD v4 |
17 | g.47222386A>T | CA400022848 | MYL4 | c.494A>T (p.Lys165Met) c.205A>T c.*280A>T (n.*280A>T) c.*96A>T (n.*96A>T) c.284A>T (p.Lys95Met) c.587A>T (p.Lys196Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47222387G>A | CA500434348 | MYL4 | c.495G>A (p.Lys165=) c.206G>A c.*281G>A (n.*281G>A) c.*97G>A (n.*97G>A) c.285G>A (p.Lys95=) c.588G>A (p.Lys196=) | dbSNP gnomAD v4 |
17 | g.47222387G>C | CA400022849 | MYL4 | c.495G>C (p.Lys165Asn) c.206G>C c.*281G>C (n.*281G>C) c.*97G>C (n.*97G>C) c.285G>C (p.Lys95Asn) c.588G>C (p.Lys196Asn) | |
17 | g.47222387G= | CA2262578046 | MYL4 | c.495G= (p.Lys165=) c.206G= c.*281G= (n.*281G=) c.*97G= (n.*97G=) c.285G= (p.Lys95=) c.588G= (p.Lys196=) | |
17 | g.47222387G>T | CA400022850 | MYL4 | c.495G>T (p.Lys165Asn) c.206G>T c.*281G>T (n.*281G>T) c.*97G>T (n.*97G>T) c.285G>T (p.Lys95Asn) c.588G>T (p.Lys196Asn) | dbSNP gnomAD v4 |
17 | g.47222388A>C | CA400022851 | MYL4 | c.496A>C (p.Met166Leu) c.207A>C c.*282A>C (n.*282A>C) c.*98A>C (n.*98A>C) c.286A>C (p.Met96Leu) c.589A>C (p.Met197Leu) | |
17 | g.47222388A>G | CA400022853 | MYL4 | c.496A>G (p.Met166Val) c.207A>G c.*282A>G (n.*282A>G) c.*98A>G (n.*98A>G) c.286A>G (p.Met96Val) c.589A>G (p.Met197Val) | |
17 | g.47222388A>T | CA400022852 | MYL4 | c.496A>T (p.Met166Leu) c.207A>T c.*282A>T (n.*282A>T) c.*98A>T (n.*98A>T) c.286A>T (p.Met96Leu) c.589A>T (p.Met197Leu) | |
17 | g.47222389T>A | CA400022854 | MYL4 | c.497T>A (p.Met166Lys) c.208T>A c.*283T>A (n.*283T>A) c.*99T>A (n.*99T>A) c.287T>A (p.Met96Lys) c.590T>A (p.Met197Lys) | |
17 | g.47222389T>C | CA400022855 | MYL4 | c.497T>C (p.Met166Thr) c.208T>C c.*283T>C (n.*283T>C) c.*99T>C (n.*99T>C) c.287T>C (p.Met96Thr) c.590T>C (p.Met197Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47222389T>G | CA400022856 | MYL4 | c.497T>G (p.Met166Arg) c.208T>G c.*283T>G (n.*283T>G) c.*99T>G (n.*99T>G) c.287T>G (p.Met96Arg) c.590T>G (p.Met197Arg) | |
17 | g.47222389T= | CA2262578047 | MYL4 | c.497T= (p.Met166=) c.208T= c.*283T= (n.*283T=) c.*99T= (n.*99T=) c.287T= (p.Met96=) c.590T= (p.Met197=) | |
17 | g.47222390G>A | CA400022857 | MYL4 | c.498G>A (p.Met166Ile) c.209G>A c.*284G>A (n.*284G>A) c.*100G>A (n.*100G>A) c.288G>A (p.Met96Ile) c.591G>A (p.Met197Ile) | |
17 | g.47222390G>C | CA400022858 | MYL4 | c.498G>C (p.Met166Ile) c.209G>C c.*284G>C (n.*284G>C) c.*100G>C (n.*100G>C) c.288G>C (p.Met96Ile) c.591G>C (p.Met197Ile) | |
17 | g.47222390G>T | CA400022859 | MYL4 | c.498G>T (p.Met166Ile) c.209G>T c.*284G>T (n.*284G>T) c.*100G>T (n.*100G>T) c.288G>T (p.Met96Ile) c.591G>T (p.Met197Ile) | |
17 | g.47222391A= | CA2262578048 | MYL4 | c.499A= (p.Thr167=) c.210A= c.*285A= (n.*285A=) c.*101A= (n.*101A=) c.289A= (p.Thr97=) c.592A= (p.Thr198=) | |
17 | g.47222391A>C | CA400022860 | MYL4 | c.499A>C (p.Thr167Pro) c.210A>C c.*285A>C (n.*285A>C) c.*101A>C (n.*101A>C) c.289A>C (p.Thr97Pro) c.592A>C (p.Thr198Pro) | |
17 | g.47222391A>G | CA8622779 | MYL4 | c.499A>G (p.Thr167Ala) c.210A>G c.*285A>G (n.*285A>G) c.*101A>G (n.*101A>G) c.289A>G (p.Thr97Ala) c.592A>G (p.Thr198Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222391A>T | CA400022861 | MYL4 | c.499A>T (p.Thr167Ser) c.210A>T c.*285A>T (n.*285A>T) c.*101A>T (n.*101A>T) c.289A>T (p.Thr97Ser) c.592A>T (p.Thr198Ser) | |
17 | g.47222392C>A | CA400022862 | MYL4 | c.500C>A (p.Thr167Asn) c.211C>A c.*286C>A (n.*286C>A) c.*102C>A (n.*102C>A) c.290C>A (p.Thr97Asn) c.593C>A (p.Thr198Asn) | |
17 | g.47222392C>G | CA400022863 | MYL4 | c.500C>G (p.Thr167Ser) c.211C>G c.*286C>G (n.*286C>G) c.*102C>G (n.*102C>G) c.290C>G (p.Thr97Ser) c.593C>G (p.Thr198Ser) | |
17 | g.47222392C>T | CA400022864 | MYL4 | c.500C>T (p.Thr167Ile) c.211C>T c.*286C>T (n.*286C>T) c.*102C>T (n.*102C>T) c.290C>T (p.Thr97Ile) c.593C>T (p.Thr198Ile) | |
17 | g.47222393T>A | CA500434370 | MYL4 | c.501T>A (p.Thr167=) c.212T>A c.*287T>A (n.*287T>A) c.*103T>A (n.*103T>A) c.291T>A (p.Thr97=) c.594T>A (p.Thr198=) | |
17 | g.47222393T>C | CA500434373 | MYL4 | c.501T>C (p.Thr167=) c.212T>C c.*287T>C (n.*287T>C) c.*103T>C (n.*103T>C) c.291T>C (p.Thr97=) c.594T>C (p.Thr198=) | |
17 | g.47222393T>G | CA500434372 | MYL4 | c.501T>G (p.Thr167=) c.212T>G c.*287T>G (n.*287T>G) c.*103T>G (n.*103T>G) c.291T>G (p.Thr97=) c.594T>G (p.Thr198=) | |
17 | g.47222393_47222394del | CA2576401869 | MYL4 | c.501_502del (p.Glu168GlyfsTer2) c.212_213del c.*287_*288del (n.*287_*288del) c.*103_*104del (n.*103_*104del) c.291_292del (p.Glu98GlyfsTer2) c.594_595del (p.Glu199GlyfsTer2) | gnomAD v4 |
17 | g.47222394G>A | CA400022867 | MYL4 | c.502G>A (p.Glu168Lys) c.213G>A c.*288G>A (n.*288G>A) c.*104G>A (n.*104G>A) c.292G>A (p.Glu98Lys) c.595G>A (p.Glu199Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47222394G>C | CA400022865 | MYL4 | c.502G>C (p.Glu168Gln) c.213G>C c.*288G>C (n.*288G>C) c.*104G>C (n.*104G>C) c.292G>C (p.Glu98Gln) c.595G>C (p.Glu199Gln) | |
17 | g.47222394G= | CA2262578049 | MYL4 | c.502G= (p.Glu168=) c.213G= c.*288G= (n.*288G=) c.*104G= (n.*104G=) c.292G= (p.Glu98=) c.595G= (p.Glu199=) | |
17 | g.47222394G>T | CA400022866 | MYL4 | c.502G>T (p.Glu168Ter) c.213G>T c.*288G>T (n.*288G>T) c.*104G>T (n.*104G>T) c.292G>T (p.Glu98Ter) c.595G>T (p.Glu199Ter) | |
17 | g.47222395A>C | CA400022868 | MYL4 | c.503A>C (p.Glu168Ala) c.214A>C c.*289A>C (n.*289A>C) c.*105A>C (n.*105A>C) c.293A>C (p.Glu98Ala) c.596A>C (p.Glu199Ala) | |
17 | g.47222395A>G | CA400022869 | MYL4 | c.503A>G (p.Glu168Gly) c.214A>G c.*289A>G (n.*289A>G) c.*105A>G (n.*105A>G) c.293A>G (p.Glu98Gly) c.596A>G (p.Glu199Gly) | |
17 | g.47222395A>T | CA400022870 | MYL4 | c.503A>T (p.Glu168Val) c.214A>T c.*289A>T (n.*289A>T) c.*105A>T (n.*105A>T) c.293A>T (p.Glu98Val) c.596A>T (p.Glu199Val) | |
17 | g.47222396G>A | CA500434382 | MYL4 | c.504G>A (p.Glu168=) c.215G>A c.*290G>A (n.*290G>A) c.*106G>A (n.*106G>A) c.294G>A (p.Glu98=) c.597G>A (p.Glu199=) | ClinVar |
17 | g.47222396G>C | CA400022871 | MYL4 | c.504G>C (p.Glu168Asp) c.215G>C c.*290G>C (n.*290G>C) c.*106G>C (n.*106G>C) c.294G>C (p.Glu98Asp) c.597G>C (p.Glu199Asp) | |
17 | g.47222396G>T | CA400022872 | MYL4 | c.504G>T (p.Glu168Asp) c.215G>T c.*290G>T (n.*290G>T) c.*106G>T (n.*106G>T) c.294G>T (p.Glu98Asp) c.597G>T (p.Glu199Asp) | |
17 | g.47222397G>A | CA400022873 | MYL4 | c.505G>A (p.Ala169Thr) c.216G>A c.*291G>A (n.*291G>A) c.*107G>A (n.*107G>A) c.295G>A (p.Ala99Thr) c.598G>A (p.Ala200Thr) | gnomAD v4 |
17 | g.47222397G>C | CA400022874 | MYL4 | c.505G>C (p.Ala169Pro) c.216G>C c.*291G>C (n.*291G>C) c.*107G>C (n.*107G>C) c.295G>C (p.Ala99Pro) c.598G>C (p.Ala200Pro) | |
17 | g.47222397G>T | CA400022876 | MYL4 | c.505G>T (p.Ala169Ser) c.216G>T c.*291G>T (n.*291G>T) c.*107G>T (n.*107G>T) c.295G>T (p.Ala99Ser) c.598G>T (p.Ala200Ser) | |
17 | g.47222398C>A | CA400022878 | MYL4 | c.506C>A (p.Ala169Asp) c.217C>A c.*292C>A (n.*292C>A) c.*108C>A (n.*108C>A) c.296C>A (p.Ala99Asp) c.599C>A (p.Ala200Asp) | |
17 | g.47222398C>G | CA400022879 | MYL4 | c.506C>G (p.Ala169Gly) c.217C>G c.*292C>G (n.*292C>G) c.*108C>G (n.*108C>G) c.296C>G (p.Ala99Gly) c.599C>G (p.Ala200Gly) | |
17 | g.47222398C>T | CA400022881 | MYL4 | c.506C>T (p.Ala169Val) c.217C>T c.*292C>T (n.*292C>T) c.*108C>T (n.*108C>T) c.296C>T (p.Ala99Val) c.599C>T (p.Ala200Val) | |
17 | g.47222399T>A | CA500434395 | MYL4 | c.507T>A (p.Ala169=) c.218T>A c.*293T>A (n.*293T>A) c.*109T>A (n.*109T>A) c.297T>A (p.Ala99=) c.600T>A (p.Ala200=) | |
17 | g.47222399T>C | CA500434390 | MYL4 | c.507T>C (p.Ala169=) c.218T>C c.*293T>C (n.*293T>C) c.*109T>C (n.*109T>C) c.297T>C (p.Ala99=) c.600T>C (p.Ala200=) | |
17 | g.47222399T>G | CA500434393 | MYL4 | c.507T>G (p.Ala169=) c.218T>G c.*293T>G (n.*293T>G) c.*109T>G (n.*109T>G) c.297T>G (p.Ala99=) c.600T>G (p.Ala200=) | |
17 | g.47222400G>A | CA400022884 | MYL4 | c.508G>A (p.Glu170Lys) c.219G>A c.*294G>A (n.*294G>A) c.*110G>A (n.*110G>A) c.298G>A (p.Glu100Lys) c.601G>A (p.Glu201Lys) | |
17 | g.47222400G>C | CA400022886 | MYL4 | c.508G>C (p.Glu170Gln) c.219G>C c.*294G>C (n.*294G>C) c.*110G>C (n.*110G>C) c.298G>C (p.Glu100Gln) c.601G>C (p.Glu201Gln) | |
17 | g.47222400G= | CA2262578050 | MYL4 | c.508G= (p.Glu170=) c.219G= c.*294G= (n.*294G=) c.*110G= (n.*110G=) c.298G= (p.Glu100=) c.601G= (p.Glu201=) | |
17 | g.47222400G>T | CA400022882 | MYL4 | c.508G>T (p.Glu170Ter) c.219G>T c.*294G>T (n.*294G>T) c.*110G>T (n.*110G>T) c.298G>T (p.Glu100Ter) c.601G>T (p.Glu201Ter) | dbSNP |
17 | g.47222401A>C | CA400022891 | MYL4 | c.509A>C (p.Glu170Ala) c.220A>C c.*295A>C (n.*295A>C) c.*111A>C (n.*111A>C) c.299A>C (p.Glu100Ala) c.602A>C (p.Glu201Ala) | |
17 | g.47222401A>G | CA400022888 | MYL4 | c.509A>G (p.Glu170Gly) c.220A>G c.*295A>G (n.*295A>G) c.*111A>G (n.*111A>G) c.299A>G (p.Glu100Gly) c.602A>G (p.Glu201Gly) | |
17 | g.47222401A>T | CA400022889 | MYL4 | c.509A>T (p.Glu170Val) c.220A>T c.*295A>T (n.*295A>T) c.*111A>T (n.*111A>T) c.299A>T (p.Glu100Val) c.602A>T (p.Glu201Val) | |
17 | g.47222402A= | CA2262578051 | MYL4 | c.510A= (p.Glu170=) c.221A= c.*296A= (n.*296A=) c.*112A= (n.*112A=) c.300A= (p.Glu100=) c.603A= (p.Glu201=) | |
17 | g.47222402A>C | CA400022893 | MYL4 | c.510A>C (p.Glu170Asp) c.221A>C c.*296A>C (n.*296A>C) c.*112A>C (n.*112A>C) c.300A>C (p.Glu100Asp) c.603A>C (p.Glu201Asp) | |
17 | g.47222402A>G | CA500434407 | MYL4 | c.510A>G (p.Glu170=) c.221A>G c.*296A>G (n.*296A>G) c.*112A>G (n.*112A>G) c.300A>G (p.Glu100=) c.603A>G (p.Glu201=) | dbSNP |
17 | g.47222402A>T | CA400022895 | MYL4 | c.510A>T (p.Glu170Asp) c.221A>T c.*296A>T (n.*296A>T) c.*112A>T (n.*112A>T) c.300A>T (p.Glu100Asp) c.603A>T (p.Glu201Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47222403G>A | CA8622780 | MYL4 | c.511G>A (p.Val171Met) c.222G>A c.*297G>A (n.*297G>A) c.*113G>A (n.*113G>A) c.301G>A (p.Val101Met) c.604G>A (p.Val202Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47222403G>C | CA400022897 | MYL4 | c.511G>C (p.Val171Leu) c.222G>C c.*297G>C (n.*297G>C) c.*113G>C (n.*113G>C) c.301G>C (p.Val101Leu) c.604G>C (p.Val202Leu) | |
17 | g.47222403G= | CA2262578052 | MYL4 | c.511G= (p.Val171=) c.222G= c.*297G= (n.*297G=) c.*113G= (n.*113G=) c.301G= (p.Val101=) c.604G= (p.Val202=) | |
17 | g.47222403G>T | CA400022899 | MYL4 | c.511G>T (p.Val171Leu) c.222G>T c.*297G>T (n.*297G>T) c.*113G>T (n.*113G>T) c.301G>T (p.Val101Leu) c.604G>T (p.Val202Leu) | |
17 | g.47222404T>A | CA400022901 | MYL4 | c.512T>A (p.Val171Glu) c.223T>A c.*298T>A (n.*298T>A) c.*114T>A (n.*114T>A) c.302T>A (p.Val101Glu) c.605T>A (p.Val202Glu) | |
17 | g.47222404T>C | CA8622781 | MYL4 | c.512T>C (p.Val171Ala) c.223T>C c.*298T>C (n.*298T>C) c.*114T>C (n.*114T>C) c.302T>C (p.Val101Ala) c.605T>C (p.Val202Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47222404T>G | CA400022902 | MYL4 | c.512T>G (p.Val171Gly) c.223T>G c.*298T>G (n.*298T>G) c.*114T>G (n.*114T>G) c.302T>G (p.Val101Gly) c.605T>G (p.Val202Gly) | |
17 | g.47222404T= | CA2262578053 | MYL4 | c.512T= (p.Val171=) c.223T= c.*298T= (n.*298T=) c.*114T= (n.*114T=) c.302T= (p.Val101=) c.605T= (p.Val202=) | |
17 | g.47222405G>A | CA500434418 | MYL4 | c.513G>A (p.Val171=) c.224G>A c.*299G>A (n.*299G>A) c.*115G>A (n.*115G>A) c.303G>A (p.Val101=) c.606G>A (p.Val202=) | |
17 | g.47222405G>C | CA500434419 | MYL4 | c.513G>C (p.Val171=) c.224G>C c.*299G>C (n.*299G>C) c.*115G>C (n.*115G>C) c.303G>C (p.Val101=) c.606G>C (p.Val202=) | |
17 | g.47222405G>T | CA500434416 | MYL4 | c.513G>T (p.Val171=) c.224G>T c.*299G>T (n.*299G>T) c.*115G>T (n.*115G>T) c.303G>T (p.Val101=) c.606G>T (p.Val202=) | |
17 | g.47222406G>A | CA400022904 | MYL4 | c.514G>A (p.Glu172Lys) c.225G>A c.*300G>A (n.*300G>A) c.*116G>A (n.*116G>A) c.304G>A (p.Glu102Lys) c.607G>A (p.Glu203Lys) | |
17 | g.47222406G>C | CA400022906 | MYL4 | c.514G>C (p.Glu172Gln) c.225G>C c.*300G>C (n.*300G>C) c.*116G>C (n.*116G>C) c.304G>C (p.Glu102Gln) c.607G>C (p.Glu203Gln) | gnomAD v3 gnomAD v4 |
17 | g.47222406G>T | CA400022907 | MYL4 | c.514G>T (p.Glu172Ter) c.225G>T c.*300G>T (n.*300G>T) c.*116G>T (n.*116G>T) c.304G>T (p.Glu102Ter) c.607G>T (p.Glu203Ter) | |
17 | g.47222407A>C | CA400022911 | MYL4 | c.515A>C (p.Glu172Ala) c.226A>C c.*301A>C (n.*301A>C) c.*117A>C (n.*117A>C) c.305A>C (p.Glu102Ala) c.608A>C (p.Glu203Ala) | |
17 | g.47222407A>G | CA400022908 | MYL4 | c.515A>G (p.Glu172Gly) c.226A>G c.*301A>G (n.*301A>G) c.*117A>G (n.*117A>G) c.305A>G (p.Glu102Gly) c.608A>G (p.Glu203Gly) | |
17 | g.47222407A>T | CA400022909 | MYL4 | c.515A>T (p.Glu172Val) c.226A>T c.*301A>T (n.*301A>T) c.*117A>T (n.*117A>T) c.305A>T (p.Glu102Val) c.608A>T (p.Glu203Val) | |
17 | g.47222408G>A | CA500434423 | MYL4 | c.516G>A (p.Glu172=) c.227G>A c.*302G>A (n.*302G>A) c.*118G>A (n.*118G>A) c.306G>A (p.Glu102=) c.609G>A (p.Glu203=) | dbSNP gnomAD v4 |
17 | g.47222408G>C | CA400022912 | MYL4 | c.516G>C (p.Glu172Asp) c.227G>C c.*302G>C (n.*302G>C) c.*118G>C (n.*118G>C) c.306G>C (p.Glu102Asp) c.609G>C (p.Glu203Asp) | |
17 | g.47222408G= | CA2262578054 | MYL4 | c.516G= (p.Glu172=) c.227G= c.*302G= (n.*302G=) c.*118G= (n.*118G=) c.306G= (p.Glu102=) c.609G= (p.Glu203=) | |
17 | g.47222408G>T | CA400022914 | MYL4 | c.516G>T (p.Glu172Asp) c.227G>T c.*302G>T (n.*302G>T) c.*118G>T (n.*118G>T) c.306G>T (p.Glu102Asp) c.609G>T (p.Glu203Asp) | |
17 | g.47222409C>A | CA400022916 | MYL4 | c.517C>A (p.Gln173Lys) c.228C>A c.*303C>A (n.*303C>A) c.*119C>A (n.*119C>A) c.517C>A c.307C>A (p.Gln103Lys) c.610C>A (p.Gln204Lys) | gnomAD v4 |
17 | g.47222409C>G | CA400022917 | MYL4 | c.517C>G (p.Gln173Glu) c.228C>G c.*303C>G (n.*303C>G) c.*119C>G (n.*119C>G) c.517C>G c.307C>G (p.Gln103Glu) c.610C>G (p.Gln204Glu) | |
17 | g.47222409C>T | CA400022919 | MYL4 | c.517C>T (p.Gln173Ter) c.228C>T c.*303C>T (n.*303C>T) c.*119C>T (n.*119C>T) c.517C>T c.307C>T (p.Gln103Ter) c.610C>T (p.Gln204Ter) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47222410A= | CA2262578055 | MYL4 | c.518A= (p.Gln173=) c.229A= c.*304A= (n.*304A=) c.*120A= (n.*120A=) c.308A= (p.Gln103=) c.611A= (p.Gln204=) | |
17 | g.47222410A>C | CA8622782 | MYL4 | c.518A>C (p.Gln173Pro) c.229A>C c.*304A>C (n.*304A>C) c.*120A>C (n.*120A>C) c.308A>C (p.Gln103Pro) c.611A>C (p.Gln204Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222410A>G | CA8622783 | MYL4 | c.518A>G (p.Gln173Arg) c.229A>G c.*304A>G (n.*304A>G) c.*120A>G (n.*120A>G) c.308A>G (p.Gln103Arg) c.611A>G (p.Gln204Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222410A>T | CA400022922 | MYL4 | c.518A>T (p.Gln173Leu) c.229A>T c.*304A>T (n.*304A>T) c.*120A>T (n.*120A>T) c.308A>T (p.Gln103Leu) c.611A>T (p.Gln204Leu) | |
17 | g.47222411G>A | CA500434440 | MYL4 | c.519G>A (p.Gln173=) c.230G>A c.*305G>A (n.*305G>A) c.*121G>A (n.*121G>A) c.309G>A (p.Gln103=) c.612G>A (p.Gln204=) | |
17 | g.47222411G>C | CA400022924 | MYL4 | c.519G>C (p.Gln173His) c.230G>C c.*305G>C (n.*305G>C) c.*121G>C (n.*121G>C) c.309G>C (p.Gln103His) c.612G>C (p.Gln204His) | |
17 | g.47222411G>T | CA400022925 | MYL4 | c.519G>T (p.Gln173His) c.230G>T c.*305G>T (n.*305G>T) c.*121G>T (n.*121G>T) c.309G>T (p.Gln103His) c.612G>T (p.Gln204His) | |
17 | g.47222412C>A | CA400022928 | MYL4 | c.520C>A (p.Leu174Met) c.231C>A c.*306C>A (n.*306C>A) c.*122C>A (n.*122C>A) c.310C>A (p.Leu104Met) c.613C>A (p.Leu205Met) | |
17 | g.47222412C>G | CA400022929 | MYL4 | c.520C>G (p.Leu174Val) c.231C>G c.*306C>G (n.*306C>G) c.*122C>G (n.*122C>G) c.310C>G (p.Leu104Val) c.613C>G (p.Leu205Val) | |
17 | g.47222412C>T | CA500434442 | MYL4 | c.520C>T (p.Leu174=) c.231C>T c.*306C>T (n.*306C>T) c.*122C>T (n.*122C>T) c.310C>T (p.Leu104=) c.613C>T (p.Leu205=) | |
17 | g.47222413T>A | CA400022935 | MYL4 | c.521T>A (p.Leu174Gln) c.232T>A c.*307T>A (n.*307T>A) c.*123T>A (n.*123T>A) c.311T>A (p.Leu104Gln) c.614T>A (p.Leu205Gln) | |
17 | g.47222413T>C | CA400022933 | MYL4 | c.521T>C (p.Leu174Pro) c.232T>C c.*307T>C (n.*307T>C) c.*123T>C (n.*123T>C) c.311T>C (p.Leu104Pro) c.614T>C (p.Leu205Pro) | |
17 | g.47222413T>G | CA400022931 | MYL4 | c.521T>G (p.Leu174Arg) c.232T>G c.*307T>G (n.*307T>G) c.*123T>G (n.*123T>G) c.311T>G (p.Leu104Arg) c.614T>G (p.Leu205Arg) | |
17 | g.47222414G>A | CA8622784 | MYL4 | c.522G>A (p.Leu174=) c.233G>A c.*308G>A (n.*308G>A) c.*124G>A (n.*124G>A) c.312G>A (p.Leu104=) c.615G>A (p.Leu205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222414G>C | CA500434449 | MYL4 | c.522G>C (p.Leu174=) c.233G>C c.*308G>C (n.*308G>C) c.*124G>C (n.*124G>C) c.312G>C (p.Leu104=) c.615G>C (p.Leu205=) | |
17 | g.47222414G= | CA2262578056 | MYL4 | c.522G= (p.Leu174=) c.233G= c.*308G= (n.*308G=) c.*124G= (n.*124G=) c.312G= (p.Leu104=) c.615G= (p.Leu205=) | |
17 | g.47222414G>T | CA500434450 | MYL4 | c.522G>T (p.Leu174=) c.233G>T c.*308G>T (n.*308G>T) c.*124G>T (n.*124G>T) c.312G>T (p.Leu104=) c.615G>T (p.Leu205=) | |
17 | g.47222415T>A | CA400022937 | MYL4 | c.523T>A (p.Leu175Ile) c.234T>A c.*309T>A (n.*309T>A) c.*125T>A (n.*125T>A) c.313T>A (p.Leu105Ile) c.616T>A (p.Leu206Ile) | |
17 | g.47222415T>C | CA500434453 | MYL4 | c.523T>C (p.Leu175=) c.234T>C c.*309T>C (n.*309T>C) c.*125T>C (n.*125T>C) c.313T>C (p.Leu105=) c.616T>C (p.Leu206=) | |
17 | g.47222415T>G | CA400022938 | MYL4 | c.523T>G (p.Leu175Val) c.234T>G c.*309T>G (n.*309T>G) c.*125T>G (n.*125T>G) c.313T>G (p.Leu105Val) c.616T>G (p.Leu206Val) | |
17 | g.47222416T>A | CA400022941 | MYL4 | c.524T>A (p.Leu175Ter) c.235T>A c.*310T>A (n.*310T>A) c.*126T>A (n.*126T>A) c.314T>A (p.Leu105Ter) c.617T>A (p.Leu206Ter) | |
17 | g.47222416T>C | CA400022942 | MYL4 | c.524T>C (p.Leu175Ser) c.235T>C c.*310T>C (n.*310T>C) c.*126T>C (n.*126T>C) c.314T>C (p.Leu105Ser) c.617T>C (p.Leu206Ser) | |
17 | g.47222416T>G | CA400022944 | MYL4 | c.524T>G (p.Leu175Ter) c.235T>G c.*310T>G (n.*310T>G) c.*126T>G (n.*126T>G) c.314T>G (p.Leu105Ter) c.617T>G (p.Leu206Ter) | |
17 | g.47222417A>C | CA400022947 | MYL4 | c.525A>C (p.Leu175Phe) c.236A>C c.*311A>C (n.*311A>C) c.*127A>C (n.*127A>C) c.315A>C (p.Leu105Phe) c.618A>C (p.Leu206Phe) | |
17 | g.47222417A>G | CA500434460 | MYL4 | c.525A>G (p.Leu175=) c.236A>G c.*311A>G (n.*311A>G) c.*127A>G (n.*127A>G) c.315A>G (p.Leu105=) c.618A>G (p.Leu206=) | |
17 | g.47222417A>T | CA400022945 | MYL4 | c.525A>T (p.Leu175Phe) c.236A>T c.*311A>T (n.*311A>T) c.*127A>T (n.*127A>T) c.315A>T (p.Leu105Phe) c.618A>T (p.Leu206Phe) | |
17 | g.47222418G>A | CA400022948 | MYL4 | c.526G>A (p.Ala176Thr) c.237G>A c.*312G>A (n.*312G>A) c.*128G>A (n.*128G>A) c.316G>A (p.Ala106Thr) c.619G>A (p.Ala207Thr) | |
17 | g.47222418G>C | CA400022949 | MYL4 | c.526G>C (p.Ala176Pro) c.237G>C c.*312G>C (n.*312G>C) c.*128G>C (n.*128G>C) c.316G>C (p.Ala106Pro) c.619G>C (p.Ala207Pro) | |
17 | g.47222418G>T | CA400022951 | MYL4 | c.526G>T (p.Ala176Ser) c.237G>T c.*312G>T (n.*312G>T) c.*128G>T (n.*128G>T) c.316G>T (p.Ala106Ser) c.619G>T (p.Ala207Ser) | |
17 | g.47222419C>A | CA400022952 | MYL4 | c.527C>A (p.Ala176Asp) c.238C>A c.*313C>A (n.*313C>A) c.*129C>A (n.*129C>A) c.317C>A (p.Ala106Asp) c.620C>A (p.Ala207Asp) | gnomAD v4 |
17 | g.47222419C>G | CA400022954 | MYL4 | c.527C>G (p.Ala176Gly) c.238C>G c.*313C>G (n.*313C>G) c.*129C>G (n.*129C>G) c.317C>G (p.Ala106Gly) c.620C>G (p.Ala207Gly) | |
17 | g.47222419C>T | CA400022955 | MYL4 | c.527C>T (p.Ala176Val) c.238C>T c.*313C>T (n.*313C>T) c.*129C>T (n.*129C>T) c.317C>T (p.Ala106Val) c.620C>T (p.Ala207Val) | |
17 | g.47222420T>A | CA500434464 | MYL4 | c.528T>A (p.Ala176=) c.239T>A c.*314T>A (n.*314T>A) c.*130T>A (n.*130T>A) c.318T>A (p.Ala106=) c.621T>A (p.Ala207=) | |
17 | g.47222420T>C | CA500434463 | MYL4 | c.528T>C (p.Ala176=) c.239T>C c.*314T>C (n.*314T>C) c.*130T>C (n.*130T>C) c.318T>C (p.Ala106=) c.621T>C (p.Ala207=) | |
17 | g.47222420T>G | CA500434462 | MYL4 | c.528T>G (p.Ala176=) c.239T>G c.*314T>G (n.*314T>G) c.*130T>G (n.*130T>G) c.318T>G (p.Ala106=) c.621T>G (p.Ala207=) | |
17 | g.47222421G>A | CA400022957 | MYL4 | c.529G>A (p.Gly177Arg) c.240G>A c.*315G>A (n.*315G>A) c.*131G>A (n.*131G>A) c.319G>A (p.Gly107Arg) c.622G>A (p.Gly208Arg) | |
17 | g.47222421G>C | CA400022960 | MYL4 | c.529G>C (p.Gly177Arg) c.240G>C c.*315G>C (n.*315G>C) c.*131G>C (n.*131G>C) c.319G>C (p.Gly107Arg) c.622G>C (p.Gly208Arg) | |
17 | g.47222421G>T | CA400022959 | MYL4 | c.529G>T (p.Gly177Trp) c.240G>T c.*315G>T (n.*315G>T) c.*131G>T (n.*131G>T) c.319G>T (p.Gly107Trp) c.622G>T (p.Gly208Trp) | |
17 | g.47222422G>A | CA400022962 | MYL4 | c.530G>A (p.Gly177Glu) c.241G>A c.*316G>A (n.*316G>A) c.*132G>A (n.*132G>A) c.320G>A (p.Gly107Glu) c.623G>A (p.Gly208Glu) | ClinVar dbSNP gnomAD v4 |
17 | g.47222422G>C | CA400022963 | MYL4 | c.530G>C (p.Gly177Ala) c.241G>C c.*316G>C (n.*316G>C) c.*132G>C (n.*132G>C) c.320G>C (p.Gly107Ala) c.623G>C (p.Gly208Ala) | |
17 | g.47222422G>T | CA400022965 | MYL4 | c.530G>T (p.Gly177Val) c.241G>T c.*316G>T (n.*316G>T) c.*132G>T (n.*132G>T) c.320G>T (p.Gly107Val) c.623G>T (p.Gly208Val) | |
17 | g.47222423G>A | CA500434472 | MYL4 | c.531G>A (p.Gly177=) c.242G>A c.*317G>A (n.*317G>A) c.*133G>A (n.*133G>A) c.321G>A (p.Gly107=) c.624G>A (p.Gly208=) | gnomAD v4 |
17 | g.47222423G>C | CA500434471 | MYL4 | c.531G>C (p.Gly177=) c.242G>C c.*317G>C (n.*317G>C) c.*133G>C (n.*133G>C) c.321G>C (p.Gly107=) c.624G>C (p.Gly208=) | gnomAD v4 |
17 | g.47222423G>T | CA500434473 | MYL4 | c.531G>T (p.Gly177=) c.242G>T c.*317G>T (n.*317G>T) c.*133G>T (n.*133G>T) c.321G>T (p.Gly107=) c.624G>T (p.Gly208=) | |
17 | g.47222424C>A | CA400022967 | MYL4 | c.532C>A (p.Gln178Lys) c.243C>A c.*318C>A (n.*318C>A) c.*134C>A (n.*134C>A) c.322C>A (p.Gln108Lys) c.625C>A (p.Gln209Lys) | |
17 | g.47222424C>G | CA400022969 | MYL4 | c.532C>G (p.Gln178Glu) c.243C>G c.*318C>G (n.*318C>G) c.*134C>G (n.*134C>G) c.322C>G (p.Gln108Glu) c.625C>G (p.Gln209Glu) | |
17 | g.47222424C>T | CA400022970 | MYL4 | c.532C>T (p.Gln178Ter) c.243C>T c.*318C>T (n.*318C>T) c.*134C>T (n.*134C>T) c.322C>T (p.Gln108Ter) c.625C>T (p.Gln209Ter) | ClinVar gnomAD v4 |
17 | g.47222425A>C | CA400022973 | MYL4 | c.533A>C (p.Gln178Pro) c.244A>C c.*319A>C (n.*319A>C) c.*135A>C (n.*135A>C) c.323A>C (p.Gln108Pro) c.626A>C (p.Gln209Pro) | |
17 | g.47222425A>G | CA400022974 | MYL4 | c.533A>G (p.Gln178Arg) c.244A>G c.*319A>G (n.*319A>G) c.*135A>G (n.*135A>G) c.323A>G (p.Gln108Arg) c.626A>G (p.Gln209Arg) | |
17 | g.47222425A>T | CA400022975 | MYL4 | c.533A>T (p.Gln178Leu) c.244A>T c.*319A>T (n.*319A>T) c.*135A>T (n.*135A>T) c.323A>T (p.Gln108Leu) c.626A>T (p.Gln209Leu) | |
17 | g.47222426A>C | CA400022978 | MYL4 | c.534A>C (p.Gln178His) c.245A>C c.*320A>C (n.*320A>C) c.*136A>C (n.*136A>C) c.324A>C (p.Gln108His) c.627A>C (p.Gln209His) | |
17 | g.47222426A>G | CA500434477 | MYL4 | c.534A>G (p.Gln178=) c.245A>G c.*320A>G (n.*320A>G) c.*136A>G (n.*136A>G) c.324A>G (p.Gln108=) c.627A>G (p.Gln209=) | |
17 | g.47222426A>T | CA400022979 | MYL4 | c.534A>T (p.Gln178His) c.245A>T c.*320A>T (n.*320A>T) c.*136A>T (n.*136A>T) c.324A>T (p.Gln108His) c.627A>T (p.Gln209His) | |
17 | g.47222427G>A | CA400022984 | MYL4 | c.535G>A (p.Glu179Lys) c.246G>A c.*321G>A (n.*321G>A) c.*137G>A (n.*137G>A) c.325G>A (p.Glu109Lys) c.628G>A (p.Glu210Lys) | gnomAD v4 |
17 | g.47222427G>C | CA400022982 | MYL4 | c.535G>C (p.Glu179Gln) c.246G>C c.*321G>C (n.*321G>C) c.*137G>C (n.*137G>C) c.325G>C (p.Glu109Gln) c.628G>C (p.Glu210Gln) | gnomAD v4 |
17 | g.47222427G>T | CA400022981 | MYL4 | c.535G>T (p.Glu179Ter) c.246G>T c.*321G>T (n.*321G>T) c.*137G>T (n.*137G>T) c.325G>T (p.Glu109Ter) c.628G>T (p.Glu210Ter) | |
17 | g.47222428A>C | CA400022986 | MYL4 | c.536A>C (p.Glu179Ala) c.247A>C c.*322A>C (n.*322A>C) c.*138A>C (n.*138A>C) c.326A>C (p.Glu109Ala) c.629A>C (p.Glu210Ala) | |
17 | g.47222428A>G | CA400022989 | MYL4 | c.536A>G (p.Glu179Gly) c.247A>G c.*322A>G (n.*322A>G) c.*138A>G (n.*138A>G) c.326A>G (p.Glu109Gly) c.629A>G (p.Glu210Gly) | |
17 | g.47222428A>T | CA400022988 | MYL4 | c.536A>T (p.Glu179Val) c.247A>T c.*322A>T (n.*322A>T) c.*138A>T (n.*138A>T) c.326A>T (p.Glu109Val) c.629A>T (p.Glu210Val) | |
17 | g.47222429G>A | CA8622785 | MYL4 | c.537G>A (p.Glu179=) c.248G>A c.*323G>A (n.*323G>A) c.*139G>A (n.*139G>A) c.327G>A (p.Glu109=) c.630G>A (p.Glu210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222429G>C | CA400022993 | MYL4 | c.537G>C (p.Glu179Asp) c.248G>C c.*323G>C (n.*323G>C) c.*139G>C (n.*139G>C) c.327G>C (p.Glu109Asp) c.630G>C (p.Glu210Asp) | |
17 | g.47222429G= | CA2262578057 | MYL4 | c.537G= (p.Glu179=) c.248G= c.*323G= (n.*323G=) c.*139G= (n.*139G=) c.327G= (p.Glu109=) c.630G= (p.Glu210=) | |
17 | g.47222429G>T | CA400022991 | MYL4 | c.537G>T (p.Glu179Asp) c.248G>T c.*323G>T (n.*323G>T) c.*139G>T (n.*139G>T) c.327G>T (p.Glu109Asp) c.630G>T (p.Glu210Asp) | |
17 | g.47222430G>A | CA400022994 | MYL4 | c.538G>A (p.Asp180Asn) c.249G>A c.*324G>A (n.*324G>A) c.*140G>A (n.*140G>A) c.328G>A (p.Asp110Asn) c.631G>A (p.Asp211Asn) | |
17 | g.47222430G>C | CA400022998 | MYL4 | c.538G>C (p.Asp180His) c.249G>C c.*324G>C (n.*324G>C) c.*140G>C (n.*140G>C) c.328G>C (p.Asp110His) c.631G>C (p.Asp211His) | |
17 | g.47222430G>T | CA400022996 | MYL4 | c.538G>T (p.Asp180Tyr) c.249G>T c.*324G>T (n.*324G>T) c.*140G>T (n.*140G>T) c.328G>T (p.Asp110Tyr) c.631G>T (p.Asp211Tyr) | |
17 | g.47222431A>C | CA400023000 | MYL4 | c.539A>C (p.Asp180Ala) c.250A>C c.*325A>C (n.*325A>C) c.*141A>C (n.*141A>C) c.329A>C (p.Asp110Ala) c.632A>C (p.Asp211Ala) | |
17 | g.47222431A>G | CA400023001 | MYL4 | c.539A>G (p.Asp180Gly) c.250A>G c.*325A>G (n.*325A>G) c.*141A>G (n.*141A>G) c.329A>G (p.Asp110Gly) c.632A>G (p.Asp211Gly) | |
17 | g.47222431A>T | CA400023002 | MYL4 | c.539A>T (p.Asp180Val) c.250A>T c.*325A>T (n.*325A>T) c.*141A>T (n.*141A>T) c.329A>T (p.Asp110Val) c.632A>T (p.Asp211Val) | |
17 | g.47222432T>A | CA400023004 | MYL4 | c.540T>A (p.Asp180Glu) c.251T>A c.*326T>A (n.*326T>A) c.*142T>A (n.*142T>A) c.330T>A (p.Asp110Glu) c.633T>A (p.Asp211Glu) | gnomAD v4 |
17 | g.47222432T>C | CA500434490 | MYL4 | c.540T>C (p.Asp180=) c.251T>C c.*326T>C (n.*326T>C) c.*142T>C (n.*142T>C) c.330T>C (p.Asp110=) c.633T>C (p.Asp211=) | |
17 | g.47222432T>G | CA400023005 | MYL4 | c.540T>G (p.Asp180Glu) c.251T>G c.*326T>G (n.*326T>G) c.*142T>G (n.*142T>G) c.330T>G (p.Asp110Glu) c.633T>G (p.Asp211Glu) | |
17 | g.47222433G>A | CA400023007 | MYL4 | c.541G>A (p.Ala181Thr) c.252G>A c.*327G>A (n.*327G>A) c.*143G>A (n.*143G>A) c.331G>A (p.Ala111Thr) c.634G>A (p.Ala212Thr) | |
17 | g.47222433G>C | CA400023009 | MYL4 | c.541G>C (p.Ala181Pro) c.252G>C c.*327G>C (n.*327G>C) c.*143G>C (n.*143G>C) c.331G>C (p.Ala111Pro) c.634G>C (p.Ala212Pro) | |
17 | g.47222433G>T | CA400023010 | MYL4 | c.541G>T (p.Ala181Ser) c.252G>T c.*327G>T (n.*327G>T) c.*143G>T (n.*143G>T) c.331G>T (p.Ala111Ser) c.634G>T (p.Ala212Ser) | |
17 | g.47222433_47222434delinsGC | CA2262578058 | MYL4 | c.541_542delinsGC (p.Ala181=) c.252_253delinsGC c.*327_*328delinsGC (n.*327_*328delinsGC) c.*143_*144delinsGC (n.*143_*144delinsGC) c.331_332delinsGC (p.Ala111=) c.634_635delinsGC (p.Ala212=) | |
17 | g.47222434C>A | CA400023013 | MYL4 | c.542C>A (p.Ala181Asp) c.253C>A c.*328C>A (n.*328C>A) c.*144C>A (n.*144C>A) c.332C>A (p.Ala111Asp) c.635C>A (p.Ala212Asp) | |
17 | g.47222434C= | CA2262578059 | MYL4 | c.542C= (p.Ala181=) c.253C= c.*328C= (n.*328C=) c.*144C= (n.*144C=) c.332C= (p.Ala111=) c.635C= (p.Ala212=) | |
17 | g.47222434C>G | CA400023015 | MYL4 | c.542C>G (p.Ala181Gly) c.253C>G c.*328C>G (n.*328C>G) c.*144C>G (n.*144C>G) c.332C>G (p.Ala111Gly) c.635C>G (p.Ala212Gly) | |
17 | g.47222434C>T | CA400023016 | MYL4 | c.542C>T (p.Ala181Val) c.253C>T c.*328C>T (n.*328C>T) c.*144C>T (n.*144C>T) c.332C>T (p.Ala111Val) c.635C>T (p.Ala212Val) | dbSNP gnomAD v4 |
17 | g.47222435del | CA626374007 | MYL4 | c.543del (p.Asn182MetfsTer?) c.254del c.*329del (n.*329del) c.*145del (n.*145del) c.333del (p.Asn112MetfsTer?) c.636del (p.Asn213MetfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222435C>A | CA500434496 | MYL4 | c.543C>A (p.Ala181=) c.254C>A c.*329C>A (n.*329C>A) c.*145C>A (n.*145C>A) c.333C>A (p.Ala111=) c.636C>A (p.Ala212=) | |
17 | g.47222435C>G | CA500434494 | MYL4 | c.543C>G (p.Ala181=) c.254C>G c.*329C>G (n.*329C>G) c.*145C>G (n.*145C>G) c.333C>G (p.Ala111=) c.636C>G (p.Ala212=) | |
17 | g.47222435C>T | CA500434497 | MYL4 | c.543C>T (p.Ala181=) c.254C>T c.*329C>T (n.*329C>T) c.*145C>T (n.*145C>T) c.333C>T (p.Ala111=) c.636C>T (p.Ala212=) | gnomAD v4 |
17 | g.47222436A= | CA2262578060 | MYL4 | c.544A= (p.Asn182=) c.255A= c.*330A= (n.*330A=) c.*146A= (n.*146A=) c.334A= (p.Asn112=) c.637A= (p.Asn213=) | |
17 | g.47222436A>C | CA400023020 | MYL4 | c.544A>C (p.Asn182His) c.255A>C c.*330A>C (n.*330A>C) c.*146A>C (n.*146A>C) c.334A>C (p.Asn112His) c.637A>C (p.Asn213His) | |
17 | g.47222436A>G | CA8622786 | MYL4 | c.544A>G (p.Asn182Asp) c.255A>G c.*330A>G (n.*330A>G) c.*146A>G (n.*146A>G) c.334A>G (p.Asn112Asp) c.637A>G (p.Asn213Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222436A>T | CA400023019 | MYL4 | c.544A>T (p.Asn182Tyr) c.255A>T c.*330A>T (n.*330A>T) c.*146A>T (n.*146A>T) c.334A>T (p.Asn112Tyr) c.637A>T (p.Asn213Tyr) | |
17 | g.47222437A>C | CA400023022 | MYL4 | c.545A>C (p.Asn182Thr) c.256A>C c.*331A>C (n.*331A>C) c.*147A>C (n.*147A>C) c.335A>C (p.Asn112Thr) c.638A>C (p.Asn213Thr) | |
17 | g.47222437A>G | CA400023024 | MYL4 | c.545A>G (p.Asn182Ser) c.256A>G c.*331A>G (n.*331A>G) c.*147A>G (n.*147A>G) c.335A>G (p.Asn112Ser) c.638A>G (p.Asn213Ser) | gnomAD v4 |
17 | g.47222437A>T | CA400023025 | MYL4 | c.545A>T (p.Asn182Ile) c.256A>T c.*331A>T (n.*331A>T) c.*147A>T (n.*147A>T) c.335A>T (p.Asn112Ile) c.638A>T (p.Asn213Ile) | |
17 | g.47222438T>A | CA400023027 | MYL4 | c.546T>A (p.Asn182Lys) c.257T>A c.*332T>A (n.*332T>A) c.*148T>A (n.*148T>A) c.336T>A (p.Asn112Lys) c.639T>A (p.Asn213Lys) | |
17 | g.47222438T>C | CA291225910 | MYL4 | c.546T>C (p.Asn182=) c.257T>C c.*332T>C (n.*332T>C) c.*148T>C (n.*148T>C) c.336T>C (p.Asn112=) c.639T>C (p.Asn213=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47222438T>G | CA400023028 | MYL4 | c.546T>G (p.Asn182Lys) c.257T>G c.*332T>G (n.*332T>G) c.*148T>G (n.*148T>G) c.336T>G (p.Asn112Lys) c.639T>G (p.Asn213Lys) | |
17 | g.47222438T= | CA2262578061 | MYL4 | c.546T= (p.Asn182=) c.257T= c.*332T= (n.*332T=) c.*148T= (n.*148T=) c.336T= (p.Asn112=) c.639T= (p.Asn213=) | |
17 | g.47222439G>A | CA400023030 | MYL4 | c.547G>A (p.Gly183Ser) c.258G>A c.*333G>A (n.*333G>A) c.*149G>A (n.*149G>A) c.337G>A (p.Gly113Ser) c.640G>A (p.Gly214Ser) | |
17 | g.47222439G>C | CA400023031 | MYL4 | c.547G>C (p.Gly183Arg) c.258G>C c.*333G>C (n.*333G>C) c.*149G>C (n.*149G>C) c.337G>C (p.Gly113Arg) c.640G>C (p.Gly214Arg) | |
17 | g.47222439G>T | CA400023033 | MYL4 | c.547G>T (p.Gly183Cys) c.258G>T c.*333G>T (n.*333G>T) c.*149G>T (n.*149G>T) c.337G>T (p.Gly113Cys) c.640G>T (p.Gly214Cys) | |
17 | g.47222440del | CA2638433266 | MYL4 | c.548del (p.Gly183AlafsTer?) c.259del c.*334del (n.*334del) c.*150del (n.*150del) c.338del (p.Gly113AlafsTer?) c.641del (p.Gly214AlafsTer?) | gnomAD v4 |
17 | g.47222440G>A | CA400023035 | MYL4 | c.548G>A (p.Gly183Asp) c.259G>A c.*334G>A (n.*334G>A) c.*150G>A (n.*150G>A) c.338G>A (p.Gly113Asp) c.641G>A (p.Gly214Asp) | |
17 | g.47222440G>C | CA400023037 | MYL4 | c.548G>C (p.Gly183Ala) c.259G>C c.*334G>C (n.*334G>C) c.*150G>C (n.*150G>C) c.338G>C (p.Gly113Ala) c.641G>C (p.Gly214Ala) | |
17 | g.47222440G= | CA2262578062 | MYL4 | c.548G= (p.Gly183=) c.259G= c.*334G= (n.*334G=) c.*150G= (n.*150G=) c.338G= (p.Gly113=) c.641G= (p.Gly214=) | |
17 | g.47222440G>T | CA291225914 | MYL4 | c.548G>T (p.Gly183Val) c.259G>T c.*334G>T (n.*334G>T) c.*150G>T (n.*150G>T) c.338G>T (p.Gly113Val) c.641G>T (p.Gly214Val) | dbSNP |
17 | g.47222441C>A | CA500434510 | MYL4 | c.549C>A (p.Gly183=) c.260C>A c.*335C>A (n.*335C>A) c.*151C>A (n.*151C>A) c.339C>A (p.Gly113=) c.642C>A (p.Gly214=) | |
17 | g.47222441C= | CA2262578063 | MYL4 | c.549C= (p.Gly183=) c.260C= c.*335C= (n.*335C=) c.*151C= (n.*151C=) c.339C= (p.Gly113=) c.642C= (p.Gly214=) | |
17 | g.47222441C>G | CA500434509 | MYL4 | c.549C>G (p.Gly183=) c.260C>G c.*335C>G (n.*335C>G) c.*151C>G (n.*151C>G) c.339C>G (p.Gly113=) c.642C>G (p.Gly214=) | |
17 | g.47222441C>T | CA8622787 | MYL4 | c.549C>T (p.Gly183=) c.260C>T c.*335C>T (n.*335C>T) c.*151C>T (n.*151C>T) c.339C>T (p.Gly113=) c.642C>T (p.Gly214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222442T>A | CA400023043 | MYL4 | c.550T>A (p.Cys184Ser) c.261T>A c.*336T>A (n.*336T>A) c.*152T>A (n.*152T>A) c.340T>A (p.Cys114Ser) c.643T>A (p.Cys215Ser) | |
17 | g.47222442T>C | CA400023040 | MYL4 | c.550T>C (p.Cys184Arg) c.261T>C c.*336T>C (n.*336T>C) c.*152T>C (n.*152T>C) c.340T>C (p.Cys114Arg) c.643T>C (p.Cys215Arg) | |
17 | g.47222442T>G | CA400023041 | MYL4 | c.550T>G (p.Cys184Gly) c.261T>G c.*336T>G (n.*336T>G) c.*152T>G (n.*152T>G) c.340T>G (p.Cys114Gly) c.643T>G (p.Cys215Gly) | |
17 | g.47222442_47222467delinsTGCATCAATTATGAAGGTATTAAGCC | CA2262578064 | MYL4 | c.550_565+10delinsTGCATCAATTATGAAGGTATTAAGCC c.261_276+10delinsTGCATCAATTATGAAGGTATTAAGCC c.*336_*351+10delinsTGCATCAATTATGAAGGTATTAAGCC c.*152_*167+10delinsTGCATCAATTATGAAGGTATTAAGCC c.340_355+10delinsTGCATCAATTATGAAGGTATTAAGCC c.643_658+10delinsTGCATCAATTATGAAGGTATTAAGCC | |
17 | g.47222443G>A | CA400023045 | MYL4 | c.551G>A (p.Cys184Tyr) c.262G>A c.*337G>A (n.*337G>A) c.*153G>A (n.*153G>A) c.341G>A (p.Cys114Tyr) c.644G>A (p.Cys215Tyr) | ClinVar dbSNP |
17 | g.47222443G>C | CA400023047 | MYL4 | c.551G>C (p.Cys184Ser) c.262G>C c.*337G>C (n.*337G>C) c.*153G>C (n.*153G>C) c.341G>C (p.Cys114Ser) c.644G>C (p.Cys215Ser) | |
17 | g.47222443G>T | CA400023048 | MYL4 | c.551G>T (p.Cys184Phe) c.262G>T c.*337G>T (n.*337G>T) c.*153G>T (n.*153G>T) c.341G>T (p.Cys114Phe) c.644G>T (p.Cys215Phe) | |
17 | g.47222445_47222469del | CA8622788 | MYL4 | c.553_565+12del c.264_276+12del c.*339_*351+12del c.*155_*167+12del c.343_355+12del c.646_658+12del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222444C>A | CA400023050 | MYL4 | c.552C>A (p.Cys184Ter) c.263C>A c.*338C>A (n.*338C>A) c.*154C>A (n.*154C>A) c.342C>A (p.Cys114Ter) c.645C>A (p.Cys215Ter) | |
17 | g.47222444C>G | CA400023051 | MYL4 | c.552C>G (p.Cys184Trp) c.263C>G c.*338C>G (n.*338C>G) c.*154C>G (n.*154C>G) c.342C>G (p.Cys114Trp) c.645C>G (p.Cys215Trp) | |
17 | g.47222444C>T | CA500434514 | MYL4 | c.552C>T (p.Cys184=) c.263C>T c.*338C>T (n.*338C>T) c.*154C>T (n.*154C>T) c.342C>T (p.Cys114=) c.645C>T (p.Cys215=) | |
17 | g.47222445A>C | CA400023054 | MYL4 | c.553A>C (p.Ile185Leu) c.264A>C c.*339A>C (n.*339A>C) c.*155A>C (n.*155A>C) c.343A>C (p.Ile115Leu) c.646A>C (p.Ile216Leu) | |
17 | g.47222445A>G | CA400023055 | MYL4 | c.553A>G (p.Ile185Val) c.264A>G c.*339A>G (n.*339A>G) c.*155A>G (n.*155A>G) c.343A>G (p.Ile115Val) c.646A>G (p.Ile216Val) | |
17 | g.47222445A>T | CA400023057 | MYL4 | c.553A>T (p.Ile185Phe) c.264A>T c.*339A>T (n.*339A>T) c.*155A>T (n.*155A>T) c.343A>T (p.Ile115Phe) c.646A>T (p.Ile216Phe) | |
17 | g.47222446T>A | CA400023061 | MYL4 | c.554T>A (p.Ile185Asn) c.265T>A c.*340T>A (n.*340T>A) c.*156T>A (n.*156T>A) c.344T>A (p.Ile115Asn) c.647T>A (p.Ile216Asn) | |
17 | g.47222446T>C | CA400023060 | MYL4 | c.554T>C (p.Ile185Thr) c.265T>C c.*340T>C (n.*340T>C) c.*156T>C (n.*156T>C) c.344T>C (p.Ile115Thr) c.647T>C (p.Ile216Thr) | |
17 | g.47222446T>G | CA400023059 | MYL4 | c.554T>G (p.Ile185Ser) c.265T>G c.*340T>G (n.*340T>G) c.*156T>G (n.*156T>G) c.344T>G (p.Ile115Ser) c.647T>G (p.Ile216Ser) | |
17 | g.47222447C>A | CA500434517 | MYL4 | c.555C>A (p.Ile185=) c.266C>A c.*341C>A (n.*341C>A) c.*157C>A (n.*157C>A) c.345C>A (p.Ile115=) c.648C>A (p.Ile216=) | |
17 | g.47222447C>G | CA400023063 | MYL4 | c.555C>G (p.Ile185Met) c.266C>G c.*341C>G (n.*341C>G) c.*157C>G (n.*157C>G) c.345C>G (p.Ile115Met) c.648C>G (p.Ile216Met) | |
17 | g.47222447C>T | CA500434518 | MYL4 | c.555C>T (p.Ile185=) c.266C>T c.*341C>T (n.*341C>T) c.*157C>T (n.*157C>T) c.345C>T (p.Ile115=) c.648C>T (p.Ile216=) | |
17 | g.47222448A= | CA2262578065 | MYL4 | c.556A= (p.Asn186=) c.267A= c.*342A= (n.*342A=) c.*158A= (n.*158A=) c.346A= (p.Asn116=) c.649A= (p.Asn217=) | |
17 | g.47222448A>C | CA400023065 | MYL4 | c.556A>C (p.Asn186His) c.267A>C c.*342A>C (n.*342A>C) c.*158A>C (n.*158A>C) c.346A>C (p.Asn116His) c.649A>C (p.Asn217His) | |
17 | g.47222448A>G | CA400023066 | MYL4 | c.556A>G (p.Asn186Asp) c.267A>G c.*342A>G (n.*342A>G) c.*158A>G (n.*158A>G) c.346A>G (p.Asn116Asp) c.649A>G (p.Asn217Asp) | dbSNP gnomAD v4 COSMIC |
17 | g.47222448A>T | CA8622789 | MYL4 | c.556A>T (p.Asn186Tyr) c.267A>T c.*342A>T (n.*342A>T) c.*158A>T (n.*158A>T) c.346A>T (p.Asn116Tyr) c.649A>T (p.Asn217Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222449A= | CA2262578066 | MYL4 | c.557A= (p.Asn186=) c.268A= c.*343A= (n.*343A=) c.*159A= (n.*159A=) c.347A= (p.Asn116=) c.650A= (p.Asn217=) | |
17 | g.47222449A>C | CA400023069 | MYL4 | c.557A>C (p.Asn186Thr) c.268A>C c.*343A>C (n.*343A>C) c.*159A>C (n.*159A>C) c.347A>C (p.Asn116Thr) c.650A>C (p.Asn217Thr) | |
17 | g.47222449A>G | CA8622790 | MYL4 | c.557A>G (p.Asn186Ser) c.268A>G c.*343A>G (n.*343A>G) c.*159A>G (n.*159A>G) c.347A>G (p.Asn116Ser) c.650A>G (p.Asn217Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222449A>T | CA400023071 | MYL4 | c.557A>T (p.Asn186Ile) c.268A>T c.*343A>T (n.*343A>T) c.*159A>T (n.*159A>T) c.347A>T (p.Asn116Ile) c.650A>T (p.Asn217Ile) | gnomAD v4 |
17 | g.47222450T>A | CA400023073 | MYL4 | c.558T>A (p.Asn186Lys) c.269T>A c.*344T>A (n.*344T>A) c.*160T>A (n.*160T>A) c.348T>A (p.Asn116Lys) c.651T>A (p.Asn217Lys) | |
17 | g.47222450T>C | CA500434519 | MYL4 | c.558T>C (p.Asn186=) c.269T>C c.*344T>C (n.*344T>C) c.*160T>C (n.*160T>C) c.348T>C (p.Asn116=) c.651T>C (p.Asn217=) | |
17 | g.47222450T>G | CA400023075 | MYL4 | c.558T>G (p.Asn186Lys) c.269T>G c.*344T>G (n.*344T>G) c.*160T>G (n.*160T>G) c.348T>G (p.Asn116Lys) c.651T>G (p.Asn217Lys) | |
17 | g.47222451T>A | CA291225925 | MYL4 | c.559T>A (p.Tyr187Asn) c.270T>A c.*345T>A (n.*345T>A) c.*161T>A (n.*161T>A) c.349T>A (p.Tyr117Asn) c.652T>A (p.Tyr218Asn) | dbSNP gnomAD v4 |
17 | g.47222451T>C | CA400023077 | MYL4 | c.559T>C (p.Tyr187His) c.270T>C c.*345T>C (n.*345T>C) c.*161T>C (n.*161T>C) c.349T>C (p.Tyr117His) c.652T>C (p.Tyr218His) | |
17 | g.47222451T>G | CA400023078 | MYL4 | c.559T>G (p.Tyr187Asp) c.270T>G c.*345T>G (n.*345T>G) c.*161T>G (n.*161T>G) c.349T>G (p.Tyr117Asp) c.652T>G (p.Tyr218Asp) | |
17 | g.47222451T= | CA2262578067 | MYL4 | c.559T= (p.Tyr187=) c.270T= c.*345T= (n.*345T=) c.*161T= (n.*161T=) c.349T= (p.Tyr117=) c.652T= (p.Tyr218=) | |
17 | g.47222452A>C | CA400023084 | MYL4 | c.560A>C (p.Tyr187Ser) c.271A>C c.*346A>C (n.*346A>C) c.*162A>C (n.*162A>C) c.350A>C (p.Tyr117Ser) c.653A>C (p.Tyr218Ser) | |
17 | g.47222452A>G | CA400023082 | MYL4 | c.560A>G (p.Tyr187Cys) c.271A>G c.*346A>G (n.*346A>G) c.*162A>G (n.*162A>G) c.350A>G (p.Tyr117Cys) c.653A>G (p.Tyr218Cys) | |
17 | g.47222452A>T | CA400023080 | MYL4 | c.560A>T (p.Tyr187Phe) c.271A>T c.*346A>T (n.*346A>T) c.*162A>T (n.*162A>T) c.350A>T (p.Tyr117Phe) c.653A>T (p.Tyr218Phe) | |
17 | g.47222453T>A | CA400023085 | MYL4 | c.561T>A (p.Tyr187Ter) c.272T>A c.*347T>A (n.*347T>A) c.*163T>A (n.*163T>A) c.351T>A (p.Tyr117Ter) c.654T>A (p.Tyr218Ter) | |
17 | g.47222453T>C | CA500434521 | MYL4 | c.561T>C (p.Tyr187=) c.272T>C c.*347T>C (n.*347T>C) c.*163T>C (n.*163T>C) c.351T>C (p.Tyr117=) c.654T>C (p.Tyr218=) | gnomAD v4 |
17 | g.47222453T>G | CA400023087 | MYL4 | c.561T>G (p.Tyr187Ter) c.272T>G c.*347T>G (n.*347T>G) c.*163T>G (n.*163T>G) c.351T>G (p.Tyr117Ter) c.654T>G (p.Tyr218Ter) | |
17 | g.47222454G>A | CA400023089 | MYL4 | c.562G>A (p.Glu188Lys) c.273G>A c.*348G>A (n.*348G>A) c.*164G>A (n.*164G>A) c.352G>A (p.Glu118Lys) c.655G>A (p.Glu219Lys) | |
17 | g.47222454G>C | CA400023091 | MYL4 | c.562G>C (p.Glu188Gln) c.273G>C c.*348G>C (n.*348G>C) c.*164G>C (n.*164G>C) c.352G>C (p.Glu118Gln) c.655G>C (p.Glu219Gln) | |
17 | g.47222454G>T | CA400023092 | MYL4 | c.562G>T (p.Glu188Ter) c.273G>T c.*348G>T (n.*348G>T) c.*164G>T (n.*164G>T) c.352G>T (p.Glu118Ter) c.655G>T (p.Glu219Ter) | |
17 | g.47222455A>C | CA400023094 | MYL4 | c.563A>C (p.Glu188Ala) c.274A>C c.*349A>C (n.*349A>C) c.*165A>C (n.*165A>C) c.353A>C (p.Glu118Ala) c.656A>C (p.Glu219Ala) | |
17 | g.47222455A>G | CA400023096 | MYL4 | c.563A>G (p.Glu188Gly) c.274A>G c.*349A>G (n.*349A>G) c.*165A>G (n.*165A>G) c.353A>G (p.Glu118Gly) c.656A>G (p.Glu219Gly) | |
17 | g.47222455A>T | CA400023097 | MYL4 | c.563A>T (p.Glu188Val) c.274A>T c.*349A>T (n.*349A>T) c.*165A>T (n.*165A>T) c.353A>T (p.Glu118Val) c.656A>T (p.Glu219Val) | |
17 | g.47222456A>C | CA400023099 | MYL4 | c.564A>C (p.Glu188Asp) c.275A>C c.*350A>C (n.*350A>C) c.*166A>C (n.*166A>C) c.354A>C (p.Glu118Asp) c.657A>C (p.Glu219Asp) | |
17 | g.47222456A>G | CA500434525 | MYL4 | c.564A>G (p.Glu188=) c.275A>G c.*350A>G (n.*350A>G) c.*166A>G (n.*166A>G) c.354A>G (p.Glu118=) c.657A>G (p.Glu219=) | |
17 | g.47222456A>T | CA400023100 | MYL4 | c.564A>T (p.Glu188Asp) c.275A>T c.*350A>T (n.*350A>T) c.*166A>T (n.*166A>T) c.354A>T (p.Glu118Asp) c.657A>T (p.Glu219Asp) | |
17 | g.47222457G>A | CA400023102 | MYL4 | c.565G>A (p.Ala189Thr) c.276G>A c.*351G>A (n.*351G>A) c.*167G>A (n.*167G>A) c.355G>A (p.Ala119Thr) c.658G>A (p.Ala220Thr) | |
17 | g.47222457G>C | CA400023104 | MYL4 | c.565G>C (p.Ala189Pro) c.276G>C c.*351G>C (n.*351G>C) c.*167G>C (n.*167G>C) c.355G>C (p.Ala119Pro) c.658G>C (p.Ala220Pro) | |
17 | g.47222457G>T | CA400023105 | MYL4 | c.565G>T (p.Ala189Ser) c.276G>T c.*351G>T (n.*351G>T) c.*167G>T (n.*167G>T) c.355G>T (p.Ala119Ser) c.658G>T (p.Ala220Ser) | |
17 | g.47222458G>A | CA400023109 | MYL4 | c.565+1G>A (n.565+1G>A) c.276+1G>A c.*351+1G>A (n.*351+1G>A) c.*167+1G>A (n.*167+1G>A) c.355+1G>A (n.355+1G>A) c.658+1G>A (n.658+1G>A) | |
17 | g.47222458G>C | CA400023108 | MYL4 | c.565+1G>C (n.565+1G>C) c.276+1G>C c.*351+1G>C (n.*351+1G>C) c.*167+1G>C (n.*167+1G>C) c.355+1G>C (n.355+1G>C) c.658+1G>C (n.658+1G>C) | |
17 | g.47222458G>T | CA400023106 | MYL4 | c.565+1G>T (n.565+1G>T) c.276+1G>T c.*351+1G>T (n.*351+1G>T) c.*167+1G>T (n.*167+1G>T) c.355+1G>T (n.355+1G>T) c.658+1G>T (n.658+1G>T) | |
17 | g.47222459T>A | CA400023111 | MYL4 | c.565+2T>A (n.565+2T>A) c.276+2T>A c.*351+2T>A (n.*351+2T>A) c.*167+2T>A (n.*167+2T>A) c.355+2T>A (n.355+2T>A) c.658+2T>A (n.658+2T>A) | |
17 | g.47222459T>C | CA291225927 | MYL4 | c.565+2T>C (n.565+2T>C) c.276+2T>C c.*351+2T>C (n.*351+2T>C) c.*167+2T>C (n.*167+2T>C) c.355+2T>C (n.355+2T>C) c.658+2T>C (n.658+2T>C) | ClinVar dbSNP |
17 | g.47222459T>G | CA400023113 | MYL4 | c.565+2T>G (n.565+2T>G) c.276+2T>G c.*351+2T>G (n.*351+2T>G) c.*167+2T>G (n.*167+2T>G) c.355+2T>G (n.355+2T>G) c.658+2T>G (n.658+2T>G) | dbSNP |
17 | g.47222459T= | CA2262578068 | MYL4 | c.565+2T= (n.565+2T=) c.276+2T= c.*351+2T= (n.*351+2T=) c.*167+2T= (n.*167+2T=) c.355+2T= (n.355+2T=) c.658+2T= (n.658+2T=) | |
17 | g.47222460A>G | CA2638433267 | MYL4 | c.565+3A>G (n.565+3A>G) c.276+3A>G c.*351+3A>G (n.*351+3A>G) c.*167+3A>G (n.*167+3A>G) c.355+3A>G (n.355+3A>G) c.658+3A>G (n.658+3A>G) | gnomAD v4 |
17 | g.47222461T>C | CA291225930 | MYL4 | c.565+4T>C (n.565+4T>C) c.276+4T>C c.*351+4T>C (n.*351+4T>C) c.*167+4T>C (n.*167+4T>C) c.355+4T>C (n.355+4T>C) c.658+4T>C (n.658+4T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.47222461T= | CA2262578069 | MYL4 | c.565+4T= (n.565+4T=) c.276+4T= c.*351+4T= (n.*351+4T=) c.*167+4T= (n.*167+4T=) c.355+4T= (n.355+4T=) c.658+4T= (n.658+4T=) | |
17 | g.47222464A= | CA2262578070 | MYL4 | c.565+7A= (n.565+7A=) c.276+7A= c.*351+7A= (n.*351+7A=) c.*167+7A= (n.*167+7A=) c.355+7A= (n.355+7A=) c.658+7A= (n.658+7A=) | |
17 | g.47222464A>G | CA626374008 | MYL4 | c.565+7A>G (n.565+7A>G) c.276+7A>G c.*351+7A>G (n.*351+7A>G) c.*167+7A>G (n.*167+7A>G) c.355+7A>G (n.355+7A>G) c.658+7A>G (n.658+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47222465G>A | CA2576401870 | MYL4 | c.565+8G>A (n.565+8G>A) c.276+8G>A c.*351+8G>A (n.*351+8G>A) c.*167+8G>A (n.*167+8G>A) c.355+8G>A (n.355+8G>A) c.658+8G>A (n.658+8G>A) | |
17 | g.47222465G>C | CA291225933 | MYL4 | c.565+8G>C (n.565+8G>C) c.276+8G>C c.*351+8G>C (n.*351+8G>C) c.*167+8G>C (n.*167+8G>C) c.355+8G>C (n.355+8G>C) c.658+8G>C (n.658+8G>C) | dbSNP |
17 | g.47222465G= | CA2262578071 | MYL4 | c.565+8G= (n.565+8G=) c.276+8G= c.*351+8G= (n.*351+8G=) c.*167+8G= (n.*167+8G=) c.355+8G= (n.355+8G=) c.658+8G= (n.658+8G=) | |
17 | g.47222466C>A | CA2576401871 | MYL4 | c.565+9C>A (n.565+9C>A) c.276+9C>A c.*351+9C>A (n.*351+9C>A) c.*167+9C>A (n.*167+9C>A) c.355+9C>A (n.355+9C>A) c.658+9C>A (n.658+9C>A) | |
17 | g.47222467C>A | CA500434529 | MYL4 | c.565+10C>A (n.565+10C>A) c.276+10C>A c.*351+10C>A (n.*351+10C>A) c.*167+10C>A (n.*167+10C>A) c.355+10C>A (n.355+10C>A) c.658+10C>A (n.658+10C>A) | COSMIC |
17 | g.47222467C= | CA2262578072 | MYL4 | c.565+10C= (n.565+10C=) c.276+10C= c.*351+10C= (n.*351+10C=) c.*167+10C= (n.*167+10C=) c.355+10C= (n.355+10C=) c.658+10C= (n.658+10C=) | |
17 | g.47222467C>T | CA8622791 | MYL4 | c.565+10C>T (n.565+10C>T) c.276+10C>T c.*351+10C>T (n.*351+10C>T) c.*167+10C>T (n.*167+10C>T) c.355+10C>T (n.355+10C>T) c.658+10C>T (n.658+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222468G>A | CA8622792 | MYL4 | c.565+11G>A (n.565+11G>A) c.276+11G>A c.*351+11G>A (n.*351+11G>A) c.*167+11G>A (n.*167+11G>A) c.355+11G>A (n.355+11G>A) c.658+11G>A (n.658+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222468G>C | CA2262578074 | MYL4 | c.565+11G>C (n.565+11G>C) c.276+11G>C c.*351+11G>C (n.*351+11G>C) c.*167+11G>C (n.*167+11G>C) c.355+11G>C (n.355+11G>C) c.658+11G>C (n.658+11G>C) | dbSNP |
17 | g.47222468G= | CA2262578073 | MYL4 | c.565+11G= (n.565+11G=) c.276+11G= c.*351+11G= (n.*351+11G=) c.*167+11G= (n.*167+11G=) c.355+11G= (n.355+11G=) c.658+11G= (n.658+11G=) | |
17 | g.47222468G>T | CA2576401872 | MYL4 | c.565+11G>T (n.565+11G>T) c.276+11G>T c.*351+11G>T (n.*351+11G>T) c.*167+11G>T (n.*167+11G>T) c.355+11G>T (n.355+11G>T) c.658+11G>T (n.658+11G>T) | ClinVar gnomAD v4 |
17 | g.47222469C>A | CA2580094118 | MYL4 | c.565+12C>A (n.565+12C>A) c.276+12C>A c.*351+12C>A (n.*351+12C>A) c.*167+12C>A (n.*167+12C>A) c.355+12C>A (n.355+12C>A) c.658+12C>A (n.658+12C>A) | ClinVar |
17 | g.47222469C= | CA2262578075 | MYL4 | c.565+12C= (n.565+12C=) c.276+12C= c.*351+12C= (n.*351+12C=) c.*167+12C= (n.*167+12C=) c.355+12C= (n.355+12C=) c.658+12C= (n.658+12C=) | |
17 | g.47222469C>G | CA656309473 | MYL4 | c.565+12C>G (n.565+12C>G) c.276+12C>G c.*351+12C>G (n.*351+12C>G) c.*167+12C>G (n.*167+12C>G) c.355+12C>G (n.355+12C>G) c.658+12C>G (n.658+12C>G) | COSMIC |
17 | g.47222469C>T | CA8622793 | MYL4 | c.565+12C>T (n.565+12C>T) c.276+12C>T c.*351+12C>T (n.*351+12C>T) c.*167+12C>T (n.*167+12C>T) c.355+12C>T (n.355+12C>T) c.658+12C>T (n.658+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222470G>A | CA8622794 | MYL4 | c.565+13G>A (n.565+13G>A) c.276+13G>A c.*351+13G>A (n.*351+13G>A) c.*167+13G>A (n.*167+13G>A) c.355+13G>A (n.355+13G>A) c.658+13G>A (n.658+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222470G>C | CA8622795 | MYL4 | c.565+13G>C (n.565+13G>C) c.276+13G>C c.*351+13G>C (n.*351+13G>C) c.*167+13G>C (n.*167+13G>C) c.355+13G>C (n.355+13G>C) c.658+13G>C (n.658+13G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47222470G= | CA2262578076 | MYL4 | c.565+13G= (n.565+13G=) c.276+13G= c.*351+13G= (n.*351+13G=) c.*167+13G= (n.*167+13G=) c.355+13G= (n.355+13G=) c.658+13G= (n.658+13G=) | |
17 | g.47222470G>T | CA2638433268 | MYL4 | c.565+13G>T (n.565+13G>T) c.276+13G>T c.*351+13G>T (n.*351+13G>T) c.*167+13G>T (n.*167+13G>T) c.355+13G>T (n.355+13G>T) c.658+13G>T (n.658+13G>T) | gnomAD v4 |
17 | g.47222473T>C | CA2576401873 | MYL4 | c.565+16T>C (n.565+16T>C) c.276+16T>C c.*351+16T>C (n.*351+16T>C) c.*167+16T>C (n.*167+16T>C) c.355+16T>C (n.355+16T>C) c.658+16T>C (n.658+16T>C) | |
17 | g.47222474T>C | CA8622796 | MYL4 | c.565+17T>C (n.565+17T>C) c.276+17T>C c.*351+17T>C (n.*351+17T>C) c.*167+17T>C (n.*167+17T>C) c.355+17T>C (n.355+17T>C) c.658+17T>C (n.658+17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47222474T= | CA2262578077 | MYL4 | c.565+17T= (n.565+17T=) c.276+17T= c.*351+17T= (n.*351+17T=) c.*167+17T= (n.*167+17T=) c.355+17T= (n.355+17T=) c.658+17T= (n.658+17T=) |