Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.57106133G>A | CA185867 | IL17RD | c.572C>T (p.Pro191Leu) c.140C>T (p.Pro47Leu) n.509C>T c.488C>T (p.Pro163Leu) c.500C>T (p.Pro167Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.57106133G>C | CA353319621 | IL17RD | c.572C>G (p.Pro191Arg) c.140C>G (p.Pro47Arg) n.509C>G c.488C>G (p.Pro163Arg) c.500C>G (p.Pro167Arg) | |
3 | g.57106133G= | CA1367043775 | IL17RD | c.572C= (p.Pro191=) c.140C= (p.Pro47=) n.509C= c.488C= (p.Pro163=) c.500C= (p.Pro167=) | |
3 | g.57106133G>T | CA353319622 | IL17RD | c.572C>A (p.Pro191Gln) c.140C>A (p.Pro47Gln) n.509C>A c.488C>A (p.Pro163Gln) c.500C>A (p.Pro167Gln) | |
3 | g.57106134G>A | CA2463015 | IL17RD | c.571C>T (p.Pro191Ser) c.139C>T (p.Pro47Ser) n.508C>T c.487C>T (p.Pro163Ser) c.499C>T (p.Pro167Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.57106134G>C | CA353319625 | IL17RD | c.571C>G (p.Pro191Ala) c.139C>G (p.Pro47Ala) n.508C>G c.487C>G (p.Pro163Ala) c.499C>G (p.Pro167Ala) | |
3 | g.57106134G= | CA1367043776 | IL17RD | c.571C= (p.Pro191=) c.139C= (p.Pro47=) n.508C= c.487C= (p.Pro163=) c.499C= (p.Pro167=) | |
3 | g.57106134G>T | CA353319624 | IL17RD | c.571C>A (p.Pro191Thr) c.139C>A (p.Pro47Thr) n.508C>A c.487C>A (p.Pro163Thr) c.499C>A (p.Pro167Thr) | |
3 | g.57106135C>A | CA353319628 | IL17RD | c.570G>T (p.Gln190His) c.138G>T (p.Gln46His) n.507G>T c.486G>T (p.Gln162His) c.498G>T (p.Gln166His) | |
3 | g.57106135C>G | CA353319630 | IL17RD | c.570G>C (p.Gln190His) c.138G>C (p.Gln46His) n.507G>C c.486G>C (p.Gln162His) c.498G>C (p.Gln166His) | |
3 | g.57106135C>T | CA434141124 | IL17RD | c.570G>A (p.Gln190=) c.138G>A (p.Gln46=) n.507G>A c.486G>A (p.Gln162=) c.498G>A (p.Gln166=) | gnomAD v4 |
3 | g.57106136T>A | CA353319631 | IL17RD | c.569A>T (p.Gln190Leu) c.137A>T (p.Gln46Leu) n.506A>T c.485A>T (p.Gln162Leu) c.497A>T (p.Gln166Leu) | |
3 | g.57106136T>C | CA353319633 | IL17RD | c.569A>G (p.Gln190Arg) c.137A>G (p.Gln46Arg) n.506A>G c.485A>G (p.Gln162Arg) c.497A>G (p.Gln166Arg) | |
3 | g.57106136T>G | CA353319635 | IL17RD | c.569A>C (p.Gln190Pro) c.137A>C (p.Gln46Pro) n.506A>C c.485A>C (p.Gln162Pro) c.497A>C (p.Gln166Pro) | |
3 | g.57106137G>A | CA353319637 | IL17RD | c.568C>T (p.Gln190Ter) c.136C>T (p.Gln46Ter) n.505C>T c.484C>T (p.Gln162Ter) c.496C>T (p.Gln166Ter) | |
3 | g.57106137G>C | CA353319638 | IL17RD | c.568C>G (p.Gln190Glu) c.136C>G (p.Gln46Glu) n.505C>G c.484C>G (p.Gln162Glu) c.496C>G (p.Gln166Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.57106137G= | CA1367043777 | IL17RD | c.568C= (p.Gln190=) c.136C= (p.Gln46=) n.505C= c.484C= (p.Gln162=) c.496C= (p.Gln166=) | |
3 | g.57106137G>T | CA353319640 | IL17RD | c.568C>A (p.Gln190Lys) c.136C>A (p.Gln46Lys) n.505C>A c.484C>A (p.Gln162Lys) c.496C>A (p.Gln166Lys) | dbSNP gnomAD v4 |
3 | g.57106138T>A | CA353319642 | IL17RD | c.567A>T (p.Leu189Phe) c.135A>T (p.Leu45Phe) n.504A>T c.483A>T (p.Leu161Phe) c.495A>T (p.Leu165Phe) | |
3 | g.57106138T>C | CA434141131 | IL17RD | c.567A>G (p.Leu189=) c.135A>G (p.Leu45=) n.504A>G c.483A>G (p.Leu161=) c.495A>G (p.Leu165=) | |
3 | g.57106138T>G | CA353319644 | IL17RD | c.567A>C (p.Leu189Phe) c.135A>C (p.Leu45Phe) n.504A>C c.483A>C (p.Leu161Phe) c.495A>C (p.Leu165Phe) | |
3 | g.57106139A>C | CA353319646 | IL17RD | c.566T>G (p.Leu189Ter) c.134T>G (p.Leu45Ter) n.503T>G c.482T>G (p.Leu161Ter) c.494T>G (p.Leu165Ter) | gnomAD v4 |
3 | g.57106139A>G | CA353319647 | IL17RD | c.566T>C (p.Leu189Ser) c.134T>C (p.Leu45Ser) n.503T>C c.482T>C (p.Leu161Ser) c.494T>C (p.Leu165Ser) | gnomAD v4 |
3 | g.57106139A>T | CA353319649 | IL17RD | c.566T>A (p.Leu189Ter) c.134T>A (p.Leu45Ter) n.503T>A c.482T>A (p.Leu161Ter) c.494T>A (p.Leu165Ter) | |
3 | g.57106140A>C | CA353319651 | IL17RD | c.565T>G (p.Leu189Val) c.133T>G (p.Leu45Val) n.502T>G c.481T>G (p.Leu161Val) c.493T>G (p.Leu165Val) | |
3 | g.57106140A>G | CA434141135 | IL17RD | c.565T>C (p.Leu189=) c.133T>C (p.Leu45=) n.502T>C c.481T>C (p.Leu161=) c.493T>C (p.Leu165=) | |
3 | g.57106140A>T | CA353319652 | IL17RD | c.565T>A (p.Leu189Ile) c.133T>A (p.Leu45Ile) n.502T>A c.481T>A (p.Leu161Ile) c.493T>A (p.Leu165Ile) | |
3 | g.57106141C>A | CA353319654 | IL17RD | c.564G>T (p.Leu188Phe) c.132G>T (p.Leu44Phe) n.501G>T c.480G>T (p.Leu160Phe) c.492G>T (p.Leu164Phe) | |
3 | g.57106141C>G | CA353319655 | IL17RD | c.564G>C (p.Leu188Phe) c.132G>C (p.Leu44Phe) n.501G>C c.480G>C (p.Leu160Phe) c.492G>C (p.Leu164Phe) | |
3 | g.57106141C>T | CA434141137 | IL17RD | c.564G>A (p.Leu188=) c.132G>A (p.Leu44=) n.501G>A c.480G>A (p.Leu160=) c.492G>A (p.Leu164=) | |
3 | g.57106142A>C | CA353319656 | IL17RD | c.563T>G (p.Leu188Trp) c.131T>G (p.Leu44Trp) n.500T>G c.479T>G (p.Leu160Trp) c.491T>G (p.Leu164Trp) | |
3 | g.57106142A>G | CA353319658 | IL17RD | c.563T>C (p.Leu188Ser) c.131T>C (p.Leu44Ser) n.500T>C c.479T>C (p.Leu160Ser) c.491T>C (p.Leu164Ser) | |
3 | g.57106142A>T | CA353319659 | IL17RD | c.563T>A (p.Leu188Ter) c.131T>A (p.Leu44Ter) n.500T>A c.479T>A (p.Leu160Ter) c.491T>A (p.Leu164Ter) | |
3 | g.57106143A>C | CA353319660 | IL17RD | c.562T>G (p.Leu188Val) c.130T>G (p.Leu44Val) n.499T>G c.478T>G (p.Leu160Val) c.490T>G (p.Leu164Val) | |
3 | g.57106143A>G | CA434141144 | IL17RD | c.562T>C (p.Leu188=) c.130T>C (p.Leu44=) n.499T>C c.478T>C (p.Leu160=) c.490T>C (p.Leu164=) | |
3 | g.57106143A>T | CA353319662 | IL17RD | c.562T>A (p.Leu188Met) c.130T>A (p.Leu44Met) n.499T>A c.478T>A (p.Leu160Met) c.490T>A (p.Leu164Met) | |
3 | g.57106144C>A | CA434141145 | IL17RD | c.561G>T (p.Leu187=) c.129G>T (p.Leu43=) n.498G>T c.477G>T (p.Leu159=) c.489G>T (p.Leu163=) | |
3 | g.57106144C= | CA1367043778 | IL17RD | c.561G= (p.Leu187=) c.129G= (p.Leu43=) n.498G= c.477G= (p.Leu159=) c.489G= (p.Leu163=) | |
3 | g.57106144C>G | CA434141146 | IL17RD | c.561G>C (p.Leu187=) c.129G>C (p.Leu43=) n.498G>C c.477G>C (p.Leu159=) c.489G>C (p.Leu163=) | dbSNP |
3 | g.57106144C>T | CA434141147 | IL17RD | c.561G>A (p.Leu187=) c.129G>A (p.Leu43=) n.498G>A c.477G>A (p.Leu159=) c.489G>A (p.Leu163=) | |
3 | g.57106145A>C | CA353319664 | IL17RD | c.560T>G (p.Leu187Arg) c.128T>G (p.Leu43Arg) n.497T>G c.476T>G (p.Leu159Arg) c.488T>G (p.Leu163Arg) | |
3 | g.57106145A>G | CA353319665 | IL17RD | c.560T>C (p.Leu187Pro) c.128T>C (p.Leu43Pro) n.497T>C c.476T>C (p.Leu159Pro) c.488T>C (p.Leu163Pro) | gnomAD v4 |
3 | g.57106145A>T | CA353319667 | IL17RD | c.560T>A (p.Leu187Gln) c.128T>A (p.Leu43Gln) n.497T>A c.476T>A (p.Leu159Gln) c.488T>A (p.Leu163Gln) | |
3 | g.57106146G>A | CA434141152 | IL17RD | c.559C>T (p.Leu187=) c.127C>T (p.Leu43=) n.496C>T c.475C>T (p.Leu159=) c.487C>T (p.Leu163=) | |
3 | g.57106146G>C | CA353319669 | IL17RD | c.559C>G (p.Leu187Val) c.127C>G (p.Leu43Val) n.496C>G c.475C>G (p.Leu159Val) c.487C>G (p.Leu163Val) | |
3 | g.57106146G= | CA1367043779 | IL17RD | c.559C= (p.Leu187=) c.127C= (p.Leu43=) n.496C= c.475C= (p.Leu159=) c.487C= (p.Leu163=) | |
3 | g.57106146G>T | CA353319671 | IL17RD | c.559C>A (p.Leu187Met) c.127C>A (p.Leu43Met) n.496C>A c.475C>A (p.Leu159Met) c.487C>A (p.Leu163Met) | dbSNP |
3 | g.57106147G>A | CA434141155 | IL17RD | c.558C>T (p.Asp186=) c.126C>T (p.Asp42=) n.495C>T c.474C>T (p.Asp158=) c.486C>T (p.Asp162=) | ClinVar |
3 | g.57106147G>C | CA353319673 | IL17RD | c.558C>G (p.Asp186Glu) c.126C>G (p.Asp42Glu) n.495C>G c.474C>G (p.Asp158Glu) c.486C>G (p.Asp162Glu) | |
3 | g.57106147G>T | CA353319675 | IL17RD | c.558C>A (p.Asp186Glu) c.126C>A (p.Asp42Glu) n.495C>A c.474C>A (p.Asp158Glu) c.486C>A (p.Asp162Glu) | gnomAD v4 |