Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80111485_80118678del | CA10654926 | GAA | c.1636+460_2672del c.1636+460_*810del | ClinVar |
17 | g.80112099_80118805del | CA913184762 | GAA | c.1753_2799del c.1753_*937del | |
17 | g.80112656_80112670delinsACGGGGTAT | CA2695227103 | GAA | c.1833_1847delinsACGGGGTAT (p.His612_Asp616delinsArgGlyIle) n.273_287delinsACGGGGTAT c.221_235delinsACGGGGTAT n.447_461delinsACGGGGTAT | |
17 | g.80112658_80112673del | CA2535645706 | GAA | c.1835_1850del (p.His612ArgfsTer?) n.275_290del c.223_238del n.449_464del | |
17 | g.80112664_80112667delinsCGGG | CA2277815106 | GAA | c.1841_1844delinsCGGG (p.Thr614=) n.281_284delinsCGGG c.229_232delinsCGGG n.455_458delinsCGGG | |
17 | g.80112669dup | CA775518065 | GAA | c.1846dup (p.Asp616GlyfsTer20) c.1846dup (p.Asp616GlyfsTer?) n.286dup c.234dup n.460dup | ClinVar dbSNP gnomAD v4 |
17 | g.80112669del | CA2573054605 | GAA | c.1846del (p.Asp616ThrfsTer?) n.286del c.234del n.460del | ClinVar dbSNP |
17 | g.80112667_80112669del | CA628018361 | GAA | c.1844_1846del (p.Gly615del) n.284_286del c.232_234del n.458_460del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80112666G>A | CA273955 | GAA | c.1843G>A (p.Gly615Arg) n.283G>A c.231G>A n.457G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80112666G>C | CA401369596 | GAA | c.1843G>C (p.Gly615Arg) n.283G>C c.231G>C n.457G>C | |
17 | g.80112666G= | CA2277815111 | GAA | c.1843G= (p.Gly615=) n.283G= c.231G= n.457G= | |
17 | g.80112666G>T | CA401369594 | GAA | c.1843G>T (p.Gly615Trp) n.283G>T c.231G>T n.457G>T | gnomAD v4 |
17 | g.80112667G>A | CA401369598 | GAA | c.1844G>A (p.Gly615Glu) n.284G>A c.232G>A n.458G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80112667G>C | CA401369600 | GAA | c.1844G>C (p.Gly615Ala) n.284G>C c.232G>C n.458G>C | |
17 | g.80112667G= | CA2277815114 | GAA | c.1844G= (p.Gly615=) n.284G= c.232G= n.458G= | |
17 | g.80112667G>T | CA401369601 | GAA | c.1844G>T (p.Gly615Val) n.284G>T c.232G>T n.458G>T | ClinVar dbSNP |
17 | g.80112668G>A | CA502402586 | GAA | c.1845G>A (p.Gly615=) n.285G>A c.233G>A n.459G>A | ClinVar |
17 | g.80112668G>C | CA502402587 | GAA | c.1845G>C (p.Gly615=) n.285G>C c.233G>C n.459G>C | |
17 | g.80112668G>T | CA502402588 | GAA | c.1845G>T (p.Gly615=) n.285G>T c.233G>T n.459G>T | |
17 | g.80112669G>A | CA294896447 | GAA | c.1846G>A (p.Asp616Asn) n.286G>A c.234G>A n.460G>A | ClinVar dbSNP gnomAD v4 |
17 | g.80112669G>C | CA401369603 | GAA | c.1846G>C (p.Asp616His) n.286G>C c.234G>C n.460G>C | |
17 | g.80112669G= | CA2277815116 | GAA | c.1846G= (p.Asp616=) n.286G= c.234G= n.460G= | |
17 | g.80112669G>T | CA401369607 | GAA | c.1846G>T (p.Asp616Tyr) n.286G>T c.234G>T n.460G>T | ClinVar |
17 | g.80112670A>C | CA401369608 | GAA | c.1847A>C (p.Asp616Ala) n.287A>C c.235A>C n.461A>C | |
17 | g.80112670A>G | CA401369610 | GAA | c.1847A>G (p.Asp616Gly) n.287A>G c.235A>G n.461A>G | |
17 | g.80112670A>T | CA401369612 | GAA | c.1847A>T (p.Asp616Val) n.287A>T c.235A>T n.461A>T | |
17 | g.80112670dup | CA628018362 | GAA | c.1847dup (p.Asp616GlufsTer20) c.1847dup (p.Asp616GlufsTer?) n.287dup c.235dup n.461dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80112670_80112671insT | CA913184758 | GAA | c.1847_1848insT (p.Val617ArgfsTer19) c.1847_1848insT (p.Val617ArgfsTer?) n.287_288insT c.235_236insT n.461_462insT | |
17 | g.80112671C>A | CA401369615 | GAA | c.1848C>A (p.Asp616Glu) n.288C>A c.236C>A n.462C>A | ClinVar |
17 | g.80112671C= | CA2277815118 | GAA | c.1848C= (p.Asp616=) n.288C= c.236C= n.462C= | |
17 | g.80112671C>G | CA401369617 | GAA | c.1848C>G (p.Asp616Glu) n.288C>G c.236C>G n.462C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80112671C>T | CA8815498 | GAA | c.1848C>T (p.Asp616=) n.288C>T c.236C>T n.462C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80112671dup | CA658795267 | GAA | c.1848dup (p.Val617ArgfsTer19) c.1848dup (p.Val617ArgfsTer?) n.288dup c.236dup n.462dup | ClinVar |
17 | g.80112672G>A | CA8815499 | GAA | c.1849G>A (p.Val617Met) n.289G>A c.237G>A n.463G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80112672G>C | CA294896458 | GAA | c.1849G>C (p.Val617Leu) n.289G>C c.237G>C n.463G>C | dbSNP |
17 | g.80112672G= | CA2277815121 | GAA | c.1849G= (p.Val617=) n.289G= c.237G= n.463G= | |
17 | g.80112672G>T | CA401369618 | GAA | c.1849G>T (p.Val617Leu) n.289G>T c.237G>T n.463G>T | dbSNP gnomAD v4 |
17 | g.80112673T>A | CA401369622 | GAA | c.1850T>A (p.Val617Glu) n.290T>A c.238T>A n.464T>A | |
17 | g.80112673T>C | CA401369624 | GAA | c.1850T>C (p.Val617Ala) n.290T>C c.238T>C n.464T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80112673T>G | CA401369628 | GAA | c.1850T>G (p.Val617Gly) n.290T>G c.238T>G n.464T>G | |
17 | g.80112673T= | CA2277815123 | GAA | c.1850T= (p.Val617=) n.290T= c.238T= n.464T= | |
17 | g.80112674G>A | CA10604843 | GAA | c.1851G>A (p.Val617=) n.291G>A c.239G>A n.465G>A | ClinVar dbSNP |
17 | g.80112674G>C | CA502402592 | GAA | c.1851G>C (p.Val617=) n.291G>C c.239G>C n.465G>C | |
17 | g.80112674G= | CA2277815124 | GAA | c.1851G= (p.Val617=) n.291G= c.239G= n.465G= | |
17 | g.80112674G>T | CA502402593 | GAA | c.1851G>T (p.Val617=) n.291G>T c.239G>T n.465G>T | gnomAD v4 |
17 | g.80112675T>A | CA401369633 | GAA | c.1852T>A (p.Trp618Arg) n.292T>A c.240T>A n.466T>A | |
17 | g.80112675T>C | CA401369635 | GAA | c.1852T>C (p.Trp618Arg) n.292T>C c.240T>C n.466T>C | |
17 | g.80112675T>G | CA401369636 | GAA | c.1852T>G (p.Trp618Gly) n.292T>G c.240T>G n.466T>G | dbSNP gnomAD v2 gnomAD v4 |