Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.20425710C>A | CA410738779 | SCARF2 | c.2266G>T (p.Ala756Ser) c.2279G>T (p.Arg760Leu) c.2281G>T (p.Ala761Ser) | gnomAD v4 |
22 | g.20425710C>G | CA410738781 | SCARF2 | c.2266G>C (p.Ala756Pro) c.2279G>C (p.Arg760Pro) c.2281G>C (p.Ala761Pro) | |
22 | g.20425710C>T | CA410738783 | SCARF2 | c.2266G>A (p.Ala756Thr) c.2279G>A (p.Arg760His) c.2281G>A (p.Ala761Thr) | gnomAD v4 |
22 | g.20425711G>A | CA410738789 | SCARF2 | c.2265C>T (p.Asp755=) c.2278C>T (p.Arg760Cys) c.2280C>T (p.Asp760=) | gnomAD v4 |
22 | g.20425711G>C | CA410738788 | SCARF2 | c.2265C>G (p.Asp755Glu) c.2278C>G (p.Arg760Gly) c.2280C>G (p.Asp760Glu) | |
22 | g.20425711G>T | CA410738786 | SCARF2 | c.2265C>A (p.Asp755Glu) c.2278C>A (p.Arg760Ser) c.2280C>A (p.Asp760Glu) | |
22 | g.20425712T>A | CA410738793 | SCARF2 | c.2264A>T (p.Asp755Val) c.2277A>T (p.Gly759=) c.2279A>T (p.Asp760Val) | |
22 | g.20425712T>C | CA410738794 | SCARF2 | c.2264A>G (p.Asp755Gly) c.2277A>G (p.Gly759=) c.2279A>G (p.Asp760Gly) | |
22 | g.20425712T>G | CA410738797 | SCARF2 | c.2264A>C (p.Asp755Ala) c.2277A>C (p.Gly759=) c.2279A>C (p.Asp760Ala) | |
22 | g.20425713C>A | CA410738799 | SCARF2 | c.2263G>T (p.Asp755Tyr) c.2276G>T (p.Gly759Val) c.2278G>T (p.Asp760Tyr) | |
22 | g.20425713C= | CA2396362684 | SCARF2 | c.2263G= (p.Asp755=) c.2276G= (p.Gly759=) c.2278G= (p.Asp760=) | |
22 | g.20425713C>G | CA410738800 | SCARF2 | c.2263G>C (p.Asp755His) c.2276G>C (p.Gly759Ala) c.2278G>C (p.Asp760His) | |
22 | g.20425713C>T | CA322182225 | SCARF2 | c.2263G>A (p.Asp755Asn) c.2276G>A (p.Gly759Glu) c.2278G>A (p.Asp760Asn) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425714C>A | CA410738803 | SCARF2 | c.2262G>T (p.Thr754=) c.2275G>T (p.Gly759Ter) c.2277G>T (p.Thr759=) | gnomAD v4 |
22 | g.20425714C>G | CA410738805 | SCARF2 | c.2262G>C (p.Thr754=) c.2275G>C (p.Gly759Arg) c.2277G>C (p.Thr759=) | gnomAD v4 |
22 | g.20425714C>T | CA410738808 | SCARF2 | c.2262G>A (p.Thr754=) c.2275G>A (p.Gly759Arg) c.2277G>A (p.Thr759=) | |
22 | g.20425715G>A | CA410738811 | SCARF2 | c.2261C>T (p.Thr754Met) c.2274C>T (p.His758=) c.2276C>T (p.Thr759Met) | gnomAD v4 |
22 | g.20425715G>C | CA410738813 | SCARF2 | c.2261C>G (p.Thr754Arg) c.2274C>G (p.His758Gln) c.2276C>G (p.Thr759Arg) | gnomAD v4 |
22 | g.20425715G= | CA2396362686 | SCARF2 | c.2261C= (p.Thr754=) c.2274C= (p.His758=) c.2276C= (p.Thr759=) | |
22 | g.20425715G>T | CA10112194 | SCARF2 | c.2261C>A (p.Thr754Lys) c.2274C>A (p.His758Gln) c.2276C>A (p.Thr759Lys) | dbSNP ExAC gnomAD v4 |
22 | g.20425716T>A | CA410738821 | SCARF2 | c.2260A>T (p.Thr754Ser) c.2273A>T (p.His758Leu) c.2275A>T (p.Thr759Ser) | gnomAD v4 |
22 | g.20425716T>C | CA410738819 | SCARF2 | c.2260A>G (p.Thr754Ala) c.2273A>G (p.His758Arg) c.2275A>G (p.Thr759Ala) | |
22 | g.20425716T>G | CA410738817 | SCARF2 | c.2260A>C (p.Thr754Pro) c.2273A>C (p.His758Pro) c.2275A>C (p.Thr759Pro) | |
22 | g.20425717G>A | CA410738824 | SCARF2 | c.2259C>T (p.Pro753=) c.2272C>T (p.His758Tyr) c.2274C>T (p.Pro758=) | |
22 | g.20425717G>C | CA410738826 | SCARF2 | c.2259C>G (p.Pro753=) c.2272C>G (p.His758Asp) c.2274C>G (p.Pro758=) | dbSNP gnomAD v4 |
22 | g.20425717G= | CA2396362688 | SCARF2 | c.2259C= (p.Pro753=) c.2272C= (p.His758=) c.2274C= (p.Pro758=) | |
22 | g.20425717G>T | CA410738828 | SCARF2 | c.2259C>A (p.Pro753=) c.2272C>A (p.His758Asn) c.2274C>A (p.Pro758=) | gnomAD v4 |
22 | g.20425718G>A | CA410738829 | SCARF2 | c.2258C>T (p.Pro753Leu) c.2271C>T (p.Ala757=) c.2273C>T (p.Pro758Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425718G>C | CA410738831 | SCARF2 | c.2258C>G (p.Pro753Arg) c.2271C>G (p.Ala757=) c.2273C>G (p.Pro758Arg) | |
22 | g.20425718G= | CA2396362691 | SCARF2 | c.2258C= (p.Pro753=) c.2271C= (p.Ala757=) c.2273C= (p.Pro758=) | |
22 | g.20425718G>T | CA410738832 | SCARF2 | c.2258C>A (p.Pro753His) c.2271C>A (p.Ala757=) c.2273C>A (p.Pro758His) | |
22 | g.20425719G>A | CA410738836 | SCARF2 | c.2257C>T (p.Pro753Ser) c.2270C>T (p.Ala757Val) c.2272C>T (p.Pro758Ser) | dbSNP gnomAD v4 |
22 | g.20425719G>C | CA410738837 | SCARF2 | c.2257C>G (p.Pro753Ala) c.2270C>G (p.Ala757Gly) c.2272C>G (p.Pro758Ala) | |
22 | g.20425719G= | CA2396362692 | SCARF2 | c.2257C= (p.Pro753=) c.2270C= (p.Ala757=) c.2272C= (p.Pro758=) | |
22 | g.20425719G>T | CA410738839 | SCARF2 | c.2257C>A (p.Pro753Thr) c.2270C>A (p.Ala757Asp) c.2272C>A (p.Pro758Thr) | gnomAD v4 |
22 | g.20425720C>A | CA410738840 | SCARF2 | c.2256G>T (p.Glu752Asp) c.2269G>T (p.Ala757Ser) c.2271G>T (p.Glu757Asp) | gnomAD v4 |
22 | g.20425720C= | CA2396362694 | SCARF2 | c.2256G= (p.Glu752=) c.2269G= (p.Ala757=) c.2271G= (p.Glu757=) | |
22 | g.20425720C>G | CA410738842 | SCARF2 | c.2256G>C (p.Glu752Asp) c.2269G>C (p.Ala757Pro) c.2271G>C (p.Glu757Asp) | |
22 | g.20425720C>T | CA410738844 | SCARF2 | c.2256G>A (p.Glu752=) c.2269G>A (p.Ala757Thr) c.2271G>A (p.Glu757=) | dbSNP gnomAD v4 |
22 | g.20425721T>A | CA410738850 | SCARF2 | c.2255A>T (p.Glu752Val) c.2268A>T (p.Gly756=) c.2270A>T (p.Glu757Val) | |
22 | g.20425721T>C | CA410738848 | SCARF2 | c.2255A>G (p.Glu752Gly) c.2268A>G (p.Gly756=) c.2270A>G (p.Glu757Gly) | gnomAD v4 |
22 | g.20425721T>G | CA410738847 | SCARF2 | c.2255A>C (p.Glu752Ala) c.2268A>C (p.Gly756=) c.2270A>C (p.Glu757Ala) | |
22 | g.20425722C>A | CA410738852 | SCARF2 | c.2254G>T (p.Glu752Ter) c.2267G>T (p.Gly756Val) c.2269G>T (p.Glu757Ter) | |
22 | g.20425722C>G | CA410738856 | SCARF2 | c.2254G>C (p.Glu752Gln) c.2267G>C (p.Gly756Ala) c.2269G>C (p.Glu757Gln) | |
22 | g.20425722C>T | CA410738858 | SCARF2 | c.2254G>A (p.Glu752Lys) c.2267G>A (p.Gly756Glu) c.2269G>A (p.Glu757Lys) | |
22 | g.20425723C>A | CA410738860 | SCARF2 | c.2253G>T (p.Leu751Phe) c.2266G>T (p.Gly756Ter) c.2268G>T (p.Leu756Phe) | gnomAD v4 |
22 | g.20425723C= | CA2396362696 | SCARF2 | c.2253G= (p.Leu751=) c.2266G= (p.Gly756=) c.2268G= (p.Leu756=) | |
22 | g.20425723C>G | CA410738863 | SCARF2 | c.2253G>C (p.Leu751Phe) c.2266G>C (p.Gly756Arg) c.2268G>C (p.Leu756Phe) | |
22 | g.20425723C>T | CA410738864 | SCARF2 | c.2253G>A (p.Leu751=) c.2266G>A (p.Gly756Arg) c.2268G>A (p.Leu756=) | dbSNP |
22 | g.20425724A= | CA2396362698 | SCARF2 | c.2252T= (p.Leu751=) c.2265T= (p.Leu755=) c.2267T= (p.Leu756=) | |
22 | g.20425724A>C | CA410738867 | SCARF2 | c.2252T>G (p.Leu751Trp) c.2265T>G (p.Leu755=) c.2267T>G (p.Leu756Trp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425724A>G | CA410738870 | SCARF2 | c.2252T>C (p.Leu751Ser) c.2265T>C (p.Leu755=) c.2267T>C (p.Leu756Ser) | gnomAD v4 |
22 | g.20425724A>T | CA410738873 | SCARF2 | c.2252T>A (p.Leu751Ter) c.2265T>A (p.Leu755=) c.2267T>A (p.Leu756Ter) | |
22 | g.20425725del | CA2655397155 | SCARF2 | c.2252del (p.Leu751TrpfsTer?) c.2265del (p.Gly756GlufsTer?) c.2267del (p.Leu756TrpfsTer?) | gnomAD v4 |
22 | g.20425725A>C | CA410738875 | SCARF2 | c.2251T>G (p.Leu751Val) c.2264T>G (p.Leu755Arg) c.2266T>G (p.Leu756Val) | |
22 | g.20425725A>G | CA410738877 | SCARF2 | c.2251T>C (p.Leu751=) c.2264T>C (p.Leu755Pro) c.2266T>C (p.Leu756=) | |
22 | g.20425725A>T | CA410738878 | SCARF2 | c.2251T>A (p.Leu751Met) c.2264T>A (p.Leu755His) c.2266T>A (p.Leu756Met) | |
22 | g.20425726G>A | CA410738880 | SCARF2 | c.2250C>T (p.Leu750=) c.2263C>T (p.Leu755Phe) c.2265C>T (p.Leu755=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425726G>C | CA410738884 | SCARF2 | c.2250C>G (p.Leu750=) c.2263C>G (p.Leu755Val) c.2265C>G (p.Leu755=) | |
22 | g.20425726G= | CA2396362700 | SCARF2 | c.2250C= (p.Leu750=) c.2263C= (p.Leu755=) c.2265C= (p.Leu755=) | |
22 | g.20425726G>T | CA410738882 | SCARF2 | c.2250C>A (p.Leu750=) c.2263C>A (p.Leu755Ile) c.2265C>A (p.Leu755=) | |
22 | g.20425727_20425732dup | CA2577652137 | SCARF2 | c.2245_2250dup (p.Leu750_Leu751insGlyLeu) c.2258_2263dup (p.Pro754_Leu755insArgPro) c.2260_2265dup (p.Leu755_Leu756insGlyLeu) | gnomAD v4 |
22 | g.20425727A= | CA2396362702 | SCARF2 | c.2249T= (p.Leu750=) c.2262T= (p.Pro754=) c.2264T= (p.Leu755=) | |
22 | g.20425727A>C | CA410738886 | SCARF2 | c.2249T>G (p.Leu750Arg) c.2262T>G (p.Pro754=) c.2264T>G (p.Leu755Arg) | dbSNP |
22 | g.20425727A>G | CA410738890 | SCARF2 | c.2249T>C (p.Leu750Pro) c.2262T>C (p.Pro754=) c.2264T>C (p.Leu755Pro) | |
22 | g.20425727A>T | CA410738888 | SCARF2 | c.2249T>A (p.Leu750His) c.2262T>A (p.Pro754=) c.2264T>A (p.Leu755His) | |
22 | g.20425728G>A | CA410738893 | SCARF2 | c.2248C>T (p.Leu750Phe) c.2261C>T (p.Pro754Leu) c.2263C>T (p.Leu755Phe) | |
22 | g.20425728G>C | CA410738895 | SCARF2 | c.2248C>G (p.Leu750Val) c.2261C>G (p.Pro754Arg) c.2263C>G (p.Leu755Val) | |
22 | g.20425728G>T | CA410738897 | SCARF2 | c.2248C>A (p.Leu750Ile) c.2261C>A (p.Pro754His) c.2263C>A (p.Leu755Ile) | |
22 | g.20425729dup | CA2573054974 | SCARF2 | c.2248dup (p.Leu750ProfsTer24) c.2261dup (p.Leu755SerfsTer23) c.2263dup (p.Leu755ProfsTer24) | ClinVar dbSNP |
22 | g.20425729G>A | CA410738899 | SCARF2 | c.2247C>T (p.Gly749=) c.2260C>T (p.Pro754Ser) c.2262C>T (p.Gly754=) | gnomAD v4 |
22 | g.20425729G>C | CA410738901 | SCARF2 | c.2247C>G (p.Gly749=) c.2260C>G (p.Pro754Ala) c.2262C>G (p.Gly754=) | ClinVar dbSNP |
22 | g.20425729G= | CA2396362704 | SCARF2 | c.2247C= (p.Gly749=) c.2260C= (p.Pro754=) c.2262C= (p.Gly754=) | |
22 | g.20425729G>T | CA410738903 | SCARF2 | c.2247C>A (p.Gly749=) c.2260C>A (p.Pro754Thr) c.2262C>A (p.Gly754=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425730C>A | CA410738910 | SCARF2 | c.2246G>T (p.Gly749Val) c.2259G>T (p.Arg753=) c.2261G>T (p.Gly754Val) | |
22 | g.20425730C>G | CA410738906 | SCARF2 | c.2246G>C (p.Gly749Ala) c.2259G>C (p.Arg753=) c.2261G>C (p.Gly754Ala) | |
22 | g.20425730C>T | CA410738908 | SCARF2 | c.2246G>A (p.Gly749Asp) c.2259G>A (p.Arg753=) c.2261G>A (p.Gly754Asp) | gnomAD v4 |
22 | g.20425731_20425737del | CA2577652138 | SCARF2 | c.2240_2246del (p.Gly747AlafsTer?) c.2254-1_2259del c.2255_2261del (p.Gly752AlafsTer?) | |
22 | g.20425731C>A | CA410738914 | SCARF2 | c.2245G>T (p.Gly749Cys) c.2258G>T (p.Arg753Leu) c.2260G>T (p.Gly754Cys) | gnomAD v4 |
22 | g.20425731C= | CA2396362706 | SCARF2 | c.2245G= (p.Gly749=) c.2258G= (p.Arg753=) c.2260G= (p.Gly754=) | |
22 | g.20425731C>G | CA410738916 | SCARF2 | c.2245G>C (p.Gly749Arg) c.2258G>C (p.Arg753Pro) c.2260G>C (p.Gly754Arg) | |
22 | g.20425731C>T | CA10112195 | SCARF2 | c.2245G>A (p.Gly749Ser) c.2258G>A (p.Arg753Gln) c.2260G>A (p.Gly754Ser) | dbSNP ExAC |
22 | g.20425731_20425732insA | CA2818417616 | SCARF2 | c.2244_2245insT (p.Gly749TrpfsTer25) c.2257_2258insT (p.Arg753LeufsTer25) c.2259_2260insT (p.Gly754TrpfsTer25) | |
22 | g.20425732G>A | CA410738919 | SCARF2 | c.2244C>T (p.Pro748=) c.2257C>T (p.Arg753Trp) c.2259C>T (p.Pro753=) | gnomAD v4 |
22 | g.20425732G>C | CA410738920 | SCARF2 | c.2244C>G (p.Pro748=) c.2257C>G (p.Arg753Gly) c.2259C>G (p.Pro753=) | gnomAD v4 |
22 | g.20425732G>T | CA513694994 | SCARF2 | c.2244C>A (p.Pro748=) c.2257C>A (p.Arg753=) c.2259C>A (p.Pro753=) | |
22 | g.20425735del | CA2655397156 | SCARF2 | c.2244del (p.Gly749AlafsTer?) c.2257del (p.Arg753GlyfsTer?) c.2259del (p.Gly754AlafsTer?) | gnomAD v4 |
22 | g.20425743_20425816del | CA1024179497 | SCARF2 | c.2171_2244del (p.Pro724ArgfsTer25) c.2186_2257del c.2186_2259del (p.Pro729ArgfsTer25) | |
22 | g.20425732_20425733insT | CA513694996 | SCARF2 | c.2243_2244insA (p.Gly749ArgfsTer25) c.2256_2257insA (p.Arg753ThrfsTer25) c.2258_2259insA (p.Gly754ArgfsTer25) | |
22 | g.20425733G>A | CA410738929 | SCARF2 | c.2243C>T (p.Pro748Leu) c.2256C>T (p.Pro752=) c.2258C>T (p.Pro753Leu) | |
22 | g.20425733G>C | CA410738923 | SCARF2 | c.2243C>G (p.Pro748Arg) c.2256C>G (p.Pro752=) c.2258C>G (p.Pro753Arg) | |
22 | g.20425733G>T | CA410738926 | SCARF2 | c.2243C>A (p.Pro748His) c.2256C>A (p.Pro752=) c.2258C>A (p.Pro753His) | gnomAD v4 |
22 | g.20425734G>A | CA410738932 | SCARF2 | c.2242C>T (p.Pro748Ser) c.2255C>T (p.Pro752Leu) c.2257C>T (p.Pro753Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425734G>C | CA410738934 | SCARF2 | c.2242C>G (p.Pro748Ala) c.2255C>G (p.Pro752Arg) c.2257C>G (p.Pro753Ala) | |
22 | g.20425734G= | CA2396362708 | SCARF2 | c.2242C= (p.Pro748=) c.2255C= (p.Pro752=) c.2257C= (p.Pro753=) | |
22 | g.20425734G>T | CA410738939 | SCARF2 | c.2242C>A (p.Pro748Thr) c.2255C>A (p.Pro752His) c.2257C>A (p.Pro753Thr) | |
22 | g.20425738_20425743dup | CA2655397157 | SCARF2 | c.2237_2242dup (p.Gly747_Pro748insArgGly) c.2251_2255dup c.2252_2257dup (p.Gly752_Pro753insArgGly) | gnomAD v4 |
22 | g.20425734_20425735insA | CA638940763 | SCARF2 | c.2241_2242insT (p.Pro748SerfsTer26) c.2254_2255insT (p.Pro752LeufsTer26) c.2256_2257insT (p.Pro753SerfsTer26) | dbSNP gnomAD v2 |
22 | g.20425735G>A | CA410738942 | SCARF2 | c.2241C>T (p.Gly747=) c.2254C>T (p.Pro752Ser) c.2256C>T (p.Gly752=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425735G>C | CA410738948 | SCARF2 | c.2241C>G (p.Gly747=) c.2254C>G (p.Pro752Ala) c.2256C>G (p.Gly752=) | gnomAD v2 |
22 | g.20425735G= | CA2396362711 | SCARF2 | c.2241C= (p.Gly747=) c.2254C= (p.Pro752=) c.2256C= (p.Gly752=) | |
22 | g.20425735G>T | CA410738950 | SCARF2 | c.2241C>A (p.Gly747=) c.2254C>A (p.Pro752Thr) c.2256C>A (p.Gly752=) | gnomAD v4 |
22 | g.20425735_20425736insT | CA638940764 | SCARF2 | c.2240_2241insA (p.Gly749ArgfsTer25) c.2254-1_2254insA (n.2254-1_2254insA) c.2255_2256insA (p.Gly754ArgfsTer25) | gnomAD v2 |
22 | g.20425736C>A | CA410738955 | SCARF2 | c.2240G>T (p.Gly747Val) c.2254-1G>T (n.2254-1G>T) c.2255G>T (p.Gly752Val) | gnomAD v4 |
22 | g.20425736C= | CA2396362715 | SCARF2 | c.2240G= (p.Gly747=) c.2254-1G= (n.2254-1G=) c.2255G= (p.Gly752=) | |
22 | g.20425736C>G | CA410738957 | SCARF2 | c.2240G>C (p.Gly747Ala) c.2254-1G>C (n.2254-1G>C) c.2255G>C (p.Gly752Ala) | |
22 | g.20425736C>T | CA410738959 | SCARF2 | c.2240G>A (p.Gly747Asp) c.2254-1G>A (n.2254-1G>A) c.2255G>A (p.Gly752Asp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425737dup | CA16609797 | SCARF2 | c.2240dup (p.Gly749ArgfsTer25) c.2254-1dup c.2255dup (p.Gly754ArgfsTer25) | ClinVar dbSNP |
22 | g.20425737C>A | CA1024179505 | SCARF2 | c.2239G>T (p.Gly747Cys) c.2253G>T (p.Ala751=) c.2254G>T (p.Gly752Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425737C= | CA2396362719 | SCARF2 | c.2239G= (p.Gly747=) c.2253G= (p.Ala751=) c.2254G= (p.Gly752=) | |
22 | g.20425737C>T | CA2655397159 | SCARF2 | c.2239G>A (p.Gly747Ser) c.2253G>A (p.Ala751=) c.2254G>A (p.Gly752Ser) | gnomAD v4 |
22 | g.20425737_20425741delinsCGCGG | CA2396362720 | SCARF2 | c.2235_2239delinsCCGCG (p.Gly745=) c.2249_2253delinsCCGCG (p.Ala750=) c.2250_2254delinsCCGCG (p.Gly750=) | |
22 | g.20425738_20425749del | CA2655397158 | SCARF2 | c.2228_2239del (p.Ala743_Arg746del) c.2243_2253del c.2243_2254del (p.Ala748_Arg751del) | gnomAD v4 |
22 | g.20425737_20425738insA | CA638940765 | SCARF2 | c.2238_2239insT (p.Gly747TrpfsTer27) c.2252_2253insT (p.Pro752AlafsTer26) c.2253_2254insT (p.Gly752TrpfsTer27) | gnomAD v2 |
22 | g.20425737_20425738insCG | CA913086861 | SCARF2 | c.2238_2239insCG (p.Gly747ArgfsTer?) c.2252_2253insCG (p.Pro752GlyfsTer?) c.2253_2254insCG (p.Gly752ArgfsTer?) | dbSNP |
22 | g.20425738del | CA2737989247 | SCARF2 | c.2238del (p.Gly747AlafsTer?) c.2252del (p.Ala751GlyfsTer?) c.2253del (p.Gly752AlafsTer?) | dbSNP |
22 | g.20425738G>A | CA513694999 | SCARF2 | c.2238C>T (p.Arg746=) c.2252C>T (p.Ala751Val) c.2253C>T (p.Arg751=) | dbSNP gnomAD v4 |
22 | g.20425738G>C | CA322182245 | SCARF2 | c.2238C>G (p.Arg746=) c.2252C>G (p.Ala751Gly) c.2253C>G (p.Arg751=) | dbSNP |
22 | g.20425738G= | CA2396362724 | SCARF2 | c.2238C= (p.Arg746=) c.2252C= (p.Ala751=) c.2253C= (p.Arg751=) | |
22 | g.20425738G>T | CA513695001 | SCARF2 | c.2238C>A (p.Arg746=) c.2252C>A (p.Ala751Glu) c.2253C>A (p.Arg751=) | gnomAD v4 |
22 | g.20425738_20425739delinsGC | CA2396362725 | SCARF2 | c.2237_2238delinsGC (p.Arg746=) c.2251_2252delinsGC (p.Ala751=) c.2252_2253delinsGC (p.Arg751=) | |
22 | g.20425738_20425741del | CA751517094 | SCARF2 | c.2235_2238del (p.Arg746AlafsTer?) c.2249_2252del (p.Ala750GlyfsTer?) c.2250_2253del (p.Arg751AlafsTer?) | dbSNP |
22 | g.20425739del | CA920338353 | SCARF2 | c.2237del (p.Arg746ProfsTer?) c.2251del (p.Ala751ArgfsTer?) c.2252del (p.Arg751ProfsTer?) | dbSNP |
22 | g.20425739C>A | CA513695005 | SCARF2 | c.2237G>T (p.Arg746Leu) c.2251G>T (p.Ala751Ser) c.2252G>T (p.Arg751Leu) | |
22 | g.20425739C= | CA2396362727 | SCARF2 | c.2237G= (p.Arg746=) c.2251G= (p.Ala751=) c.2252G= (p.Arg751=) | |
22 | g.20425739C>G | CA513695003 | SCARF2 | c.2237G>C (p.Arg746Pro) c.2251G>C (p.Ala751Pro) c.2252G>C (p.Arg751Pro) | |
22 | g.20425739C>T | CA513695002 | SCARF2 | c.2237G>A (p.Arg746His) c.2251G>A (p.Ala751Thr) c.2252G>A (p.Arg751His) | gnomAD v4 |
22 | g.20425741_20425746dup | CA920338356 | SCARF2 | c.2232_2237dup (p.Arg746_Gly747insGlyArg) c.2247_2251dup c.2247_2252dup (p.Arg751_Gly752insGlyArg) | dbSNP gnomAD v4 |
22 | g.20425739_20425740insT | CA638940766 | SCARF2 | c.2236_2237insA (p.Arg746GlnfsTer28) c.2250_2251insA (p.Ala751SerfsTer27) c.2251_2252insA (p.Arg751GlnfsTer28) | dbSNP gnomAD v2 |
22 | g.20425740G>A | CA513695009 | SCARF2 | c.2236C>T (p.Arg746Cys) c.2250C>T (p.Ala750=) c.2251C>T (p.Arg751Cys) | |
22 | g.20425740G>C | CA513695007 | SCARF2 | c.2236C>G (p.Arg746Gly) c.2250C>G (p.Ala750=) c.2251C>G (p.Arg751Gly) | |
22 | g.20425740G= | CA2396362730 | SCARF2 | c.2236C= (p.Arg746=) c.2250C= (p.Ala750=) c.2251C= (p.Arg751=) | |
22 | g.20425740G>T | CA513695011 | SCARF2 | c.2236C>A (p.Arg746Ser) c.2250C>A (p.Ala750=) c.2251C>A (p.Arg751Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425741dup | CA2573054975 | SCARF2 | c.2236dup (p.Arg746ProfsTer28) c.2250dup (p.Ala751ArgfsTer27) c.2251dup (p.Arg751ProfsTer28) | ClinVar dbSNP |
22 | g.20425745_20425757del | CA2577652139 | SCARF2 | c.2224_2236del (p.Arg742AlafsTer?) c.2239_2250del c.2239_2251del (p.Arg747AlafsTer?) | |
22 | g.20425741G>A | CA2655397160 | SCARF2 | c.2235C>T (p.Gly745=) c.2249C>T (p.Ala750Val) c.2250C>T (p.Gly750=) | gnomAD v4 |
22 | g.20425741G>C | CA322182260 | SCARF2 | c.2235C>G (p.Gly745=) c.2249C>G (p.Ala750Gly) c.2250C>G (p.Gly750=) | dbSNP |
22 | g.20425741G= | CA2396362731 | SCARF2 | c.2235C= (p.Gly745=) c.2249C= (p.Ala750=) c.2250C= (p.Gly750=) | |
22 | g.20425745dup | CA16609798 | SCARF2 | c.2234dup (p.Arg746ProfsTer28) c.2248dup c.2249dup (p.Arg751ProfsTer28) | ClinVar dbSNP |
22 | g.20425743C>A | CA513695014 | SCARF2 | c.2233G>T (p.Gly745Cys) c.2248-1G>T (n.2248-1G>T) c.2248G>T (p.Gly750Cys) | |
22 | g.20425743C>G | CA513695017 | SCARF2 | c.2233G>C (p.Gly745Arg) c.2248-1G>C (n.2248-1G>C) c.2248G>C (p.Gly750Arg) | |
22 | g.20425743C>T | CA513695019 | SCARF2 | c.2233G>A (p.Gly745Ser) c.2248-1G>A (n.2248-1G>A) c.2248G>A (p.Gly750Ser) | |
22 | g.20425744C= | CA10112196 | SCARF2 | c.2232G= (p.Arg744=) c.2247G= (p.Arg749=) | |
22 | g.20425744C>G | CA322182265 | SCARF2 | c.2232G>C (p.Arg744=) c.2247G>C (p.Arg749=) | dbSNP |
22 | g.20425745C>A | CA410738968 | SCARF2 | c.2231G>T (p.Arg744Leu) c.2246G>T (p.Arg749Leu) | |
22 | g.20425745C= | CA2396362736 | SCARF2 | c.2231G= (p.Arg744=) c.2246G= (p.Arg749=) | |
22 | g.20425745C>G | CA410738972 | SCARF2 | c.2231G>C (p.Arg744Pro) c.2246G>C (p.Arg749Pro) | |
22 | g.20425745C>T | CA410738970 | SCARF2 | c.2231G>A (p.Arg744Gln) c.2246G>A (p.Arg749Gln) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425745_20425746insT | CA322182271 | SCARF2 | c.2230_2231insA (p.Arg744GlnfsTer30) c.2245_2246insA (p.Arg749GlnfsTer29) c.2245_2246insA (p.Arg749GlnfsTer30) | dbSNP gnomAD v2 |
22 | g.20425746G>A | CA410738974 | SCARF2 | c.2230C>T (p.Arg744Trp) c.2245C>T (p.Arg749Trp) | gnomAD v4 |
22 | g.20425746G>C | CA410738977 | SCARF2 | c.2230C>G (p.Arg744Gly) c.2245C>G (p.Arg749Gly) | |
22 | g.20425746G>T | CA513695027 | SCARF2 | c.2230C>A (p.Arg744=) c.2245C>A (p.Arg749=) | gnomAD v4 |
22 | g.20425747del | CA2577652140 | SCARF2 | c.2229del (p.Arg744GlyfsTer?) c.2244del (p.Arg749GlyfsTer?) | |
22 | g.20425747C>A | CA513695033 | SCARF2 | c.2229G>T (p.Ala743=) c.2244G>T (p.Ala748=) | gnomAD v4 |
22 | g.20425747C>G | CA513695031 | SCARF2 | c.2229G>C (p.Ala743=) c.2244G>C (p.Ala748=) | gnomAD v4 |
22 | g.20425747C>T | CA513695029 | SCARF2 | c.2229G>A (p.Ala743=) c.2244G>A (p.Ala748=) | gnomAD v4 |
22 | g.20425748G>A | CA410738980 | SCARF2 | c.2228C>T (p.Ala743Val) c.2243C>T (p.Ala748Val) | dbSNP gnomAD v4 |
22 | g.20425748G>C | CA410738982 | SCARF2 | c.2228C>G (p.Ala743Gly) c.2243C>G (p.Ala748Gly) | |
22 | g.20425748G= | CA2396362739 | SCARF2 | c.2228C= (p.Ala743=) c.2243C= (p.Ala748=) | |
22 | g.20425748G>T | CA410738984 | SCARF2 | c.2228C>A (p.Ala743Glu) c.2243C>A (p.Ala748Glu) | dbSNP gnomAD v4 |
22 | g.20425749C>A | CA410738986 | SCARF2 | c.2227G>T (p.Ala743Ser) c.2242G>T (p.Ala748Ser) | |
22 | g.20425749C= | CA2396362742 | SCARF2 | c.2227G= (p.Ala743=) c.2242G= (p.Ala748=) | |
22 | g.20425749C>G | CA410738987 | SCARF2 | c.2227G>C (p.Ala743Pro) c.2242G>C (p.Ala748Pro) | dbSNP |
22 | g.20425749C>T | CA410738988 | SCARF2 | c.2227G>A (p.Ala743Thr) c.2242G>A (p.Ala748Thr) | |
22 | g.20425750_20425751del | CA1139532863 | SCARF2 | c.2226_2227del (p.Arg744GlyfsTer?) c.2241_2242del (p.Arg749GlyfsTer28) c.2241_2242del (p.Arg749GlyfsTer?) | |
22 | g.20425750T>A | CA513695039 | SCARF2 | c.2226A>T (p.Arg742=) c.2241A>T (p.Arg747=) | |
22 | g.20425750T>C | CA513695043 | SCARF2 | c.2226A>G (p.Arg742=) c.2241A>G (p.Arg747=) | |
22 | g.20425750T>G | CA513695041 | SCARF2 | c.2226A>C (p.Arg742=) c.2241A>C (p.Arg747=) | |
22 | g.20425751C>A | CA410738989 | SCARF2 | c.2225G>T (p.Arg742Leu) c.2240G>T (p.Arg747Leu) | dbSNP |
22 | g.20425751C= | CA2396362744 | SCARF2 | c.2225G= (p.Arg742=) c.2240G= (p.Arg747=) | |
22 | g.20425751C>G | CA410738991 | SCARF2 | c.2225G>C (p.Arg742Pro) c.2240G>C (p.Arg747Pro) | |
22 | g.20425751C>T | CA410738993 | SCARF2 | c.2225G>A (p.Arg742Gln) c.2240G>A (p.Arg747Gln) | dbSNP gnomAD v4 |
22 | g.20425751_20425778delinsCGGGCCCTGGGCGGCGAGGGCGCAGCGA | CA2396362743 | SCARF2 | c.2198_2225delinsTCGCTGCGCCCTCGCCGCCCAGGGCCCG (p.Leu733=) c.2213_2240delinsTCGCTGCGCCCTCGCCGCCCAGGGCCCG (p.Leu738=) | |
22 | g.20425752G>A | CA410738997 | SCARF2 | c.2224C>T (p.Arg742Ter) c.2239C>T (p.Arg747Ter) | |
22 | g.20425752G>C | CA410738999 | SCARF2 | c.2224C>G (p.Arg742Gly) c.2239C>G (p.Arg747Gly) | |
22 | g.20425752G>T | CA513695044 | SCARF2 | c.2224C>A (p.Arg742=) c.2239C>A (p.Arg747=) | |
22 | g.20425756_20425782del | CA751517168 | SCARF2 | c.2198_2224del (p.Leu733_Ala741del) c.2213_2239del (p.Leu738_Ala746del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425753G>A | CA513695046 | SCARF2 | c.2223C>T (p.Ala741=) c.2238C>T (p.Ala746=) | gnomAD v4 |
22 | g.20425753G>C | CA513695051 | SCARF2 | c.2223C>G (p.Ala741=) c.2238C>G (p.Ala746=) | gnomAD v4 |
22 | g.20425753G>T | CA513695047 | SCARF2 | c.2223C>A (p.Ala741=) c.2238C>A (p.Ala746=) | |
22 | g.20425754G>A | CA410739002 | SCARF2 | c.2222C>T (p.Ala741Val) c.2237C>T (p.Ala746Val) | gnomAD v4 |
22 | g.20425754G>C | CA410739006 | SCARF2 | c.2222C>G (p.Ala741Gly) c.2237C>G (p.Ala746Gly) | |
22 | g.20425754G>T | CA410739004 | SCARF2 | c.2222C>A (p.Ala741Asp) c.2237C>A (p.Ala746Asp) | |
22 | g.20425755C>A | CA410739010 | SCARF2 | c.2221G>T (p.Ala741Ser) c.2236G>T (p.Ala746Ser) | gnomAD v4 |
22 | g.20425755C>G | CA410739011 | SCARF2 | c.2221G>C (p.Ala741Pro) c.2236G>C (p.Ala746Pro) | |
22 | g.20425755C>T | CA410739012 | SCARF2 | c.2221G>A (p.Ala741Thr) c.2236G>A (p.Ala746Thr) | |
22 | g.20425756C>A | CA410739013 | SCARF2 | c.2220G>T (p.Arg740Ser) c.2235G>T (p.Arg745Ser) | |
22 | g.20425756C>G | CA410739014 | SCARF2 | c.2220G>C (p.Arg740Ser) c.2235G>C (p.Arg745Ser) | |
22 | g.20425756C>T | CA513695056 | SCARF2 | c.2220G>A (p.Arg740=) c.2235G>A (p.Arg745=) | gnomAD v4 |
22 | g.20425757C>A | CA410739015 | SCARF2 | c.2219G>T (p.Arg740Met) c.2234G>T (p.Arg745Met) | gnomAD v4 |
22 | g.20425757C= | CA2396362747 | SCARF2 | c.2219G= (p.Arg740=) c.2234G= (p.Arg745=) | |
22 | g.20425757C>G | CA410739016 | SCARF2 | c.2219G>C (p.Arg740Thr) c.2234G>C (p.Arg745Thr) | |
22 | g.20425757C>T | CA410739018 | SCARF2 | c.2219G>A (p.Arg740Lys) c.2234G>A (p.Arg745Lys) | dbSNP gnomAD v4 |
22 | g.20425758T>A | CA410739019 | SCARF2 | c.2218A>T (p.Arg740Trp) c.2233A>T (p.Arg745Trp) | |
22 | g.20425758T>C | CA410739021 | SCARF2 | c.2218A>G (p.Arg740Gly) c.2233A>G (p.Arg745Gly) | |
22 | g.20425758T>G | CA513695060 | SCARF2 | c.2218A>C (p.Arg740=) c.2233A>C (p.Arg745=) | dbSNP gnomAD v4 |
22 | g.20425758T= | CA2396362748 | SCARF2 | c.2218A= (p.Arg740=) c.2233A= (p.Arg745=) | |
22 | g.20425759G>A | CA513695065 | SCARF2 | c.2217C>T (p.Pro739=) c.2232C>T (p.Pro744=) | |
22 | g.20425759G>C | CA513695066 | SCARF2 | c.2217C>G (p.Pro739=) c.2232C>G (p.Pro744=) | |
22 | g.20425759G>T | CA513695067 | SCARF2 | c.2217C>A (p.Pro739=) c.2232C>A (p.Pro744=) | gnomAD v4 |
22 | g.20425760G>A | CA410739025 | SCARF2 | c.2216C>T (p.Pro739Leu) c.2231C>T (p.Pro744Leu) | |
22 | g.20425760G>C | CA410739028 | SCARF2 | c.2216C>G (p.Pro739Arg) c.2231C>G (p.Pro744Arg) | |
22 | g.20425760G>T | CA410739026 | SCARF2 | c.2216C>A (p.Pro739His) c.2231C>A (p.Pro744His) | gnomAD v4 |
22 | g.20425761G>A | CA410739031 | SCARF2 | c.2215C>T (p.Pro739Ser) c.2230C>T (p.Pro744Ser) | |
22 | g.20425761G>C | CA410739035 | SCARF2 | c.2215C>G (p.Pro739Ala) c.2230C>G (p.Pro744Ala) | |
22 | g.20425761G>T | CA410739033 | SCARF2 | c.2215C>A (p.Pro739Thr) c.2230C>A (p.Pro744Thr) | gnomAD v4 |
22 | g.20425767_20425817del | CA2655397161 | SCARF2 | c.2165_2215del (p.Arg722_Pro738del) c.2180_2230del (p.Arg727_Pro743del) | gnomAD v4 |
22 | g.20425762C>A | CA513695071 | SCARF2 | c.2214G>T (p.Pro738=) c.2229G>T (p.Pro743=) | dbSNP gnomAD v4 |
22 | g.20425762C= | CA2396362750 | SCARF2 | c.2214G= (p.Pro738=) c.2229G= (p.Pro743=) | |
22 | g.20425762C>G | CA513695075 | SCARF2 | c.2214G>C (p.Pro738=) c.2229G>C (p.Pro743=) | |
22 | g.20425762C>T | CA513695073 | SCARF2 | c.2214G>A (p.Pro738=) c.2229G>A (p.Pro743=) | gnomAD v4 |
22 | g.20425763G>A | CA410739038 | SCARF2 | c.2213C>T (p.Pro738Leu) c.2228C>T (p.Pro743Leu) | gnomAD v4 |
22 | g.20425763G>C | CA410739039 | SCARF2 | c.2213C>G (p.Pro738Arg) c.2228C>G (p.Pro743Arg) | |
22 | g.20425763G>T | CA410739041 | SCARF2 | c.2213C>A (p.Pro738Gln) c.2228C>A (p.Pro743Gln) | gnomAD v4 |
22 | g.20425764G>A | CA410739044 | SCARF2 | c.2212C>T (p.Pro738Ser) c.2227C>T (p.Pro743Ser) | gnomAD v4 |
22 | g.20425764G>C | CA410739047 | SCARF2 | c.2212C>G (p.Pro738Ala) c.2227C>G (p.Pro743Ala) | |
22 | g.20425764G>T | CA410739049 | SCARF2 | c.2212C>A (p.Pro738Thr) c.2227C>A (p.Pro743Thr) | gnomAD v4 |
22 | g.20425772_20425782del | CA2655397162 | SCARF2 | c.2202_2212del (p.Pro736GlnfsTer?) c.2217_2227del (p.Pro741GlnfsTer?) | gnomAD v4 |
22 | g.20425765C>A | CA513695077 | SCARF2 | c.2211G>T (p.Ser737=) c.2226G>T (p.Ser742=) | gnomAD v4 |
22 | g.20425765C>G | CA513695079 | SCARF2 | c.2211G>C (p.Ser737=) c.2226G>C (p.Ser742=) | |
22 | g.20425765C>T | CA513695078 | SCARF2 | c.2211G>A (p.Ser737=) c.2226G>A (p.Ser742=) | gnomAD v4 |
22 | g.20425766G>A | CA410739052 | SCARF2 | c.2210C>T (p.Ser737Leu) c.2225C>T (p.Ser742Leu) | gnomAD v4 |
22 | g.20425766G>C | CA410739054 | SCARF2 | c.2210C>G (p.Ser737Trp) c.2225C>G (p.Ser742Trp) | |
22 | g.20425766G>T | CA410739056 | SCARF2 | c.2210C>A (p.Ser737Ter) c.2225C>A (p.Ser742Ter) | gnomAD v4 |
22 | g.20425767A>C | CA410739059 | SCARF2 | c.2209T>G (p.Ser737Ala) c.2224T>G (p.Ser742Ala) | gnomAD v4 |
22 | g.20425767A>G | CA410739061 | SCARF2 | c.2209T>C (p.Ser737Pro) c.2224T>C (p.Ser742Pro) | gnomAD v4 |
22 | g.20425767A>T | CA410739063 | SCARF2 | c.2209T>A (p.Ser737Thr) c.2224T>A (p.Ser742Thr) | |
22 | g.20425768G>A | CA513695090 | SCARF2 | c.2208C>T (p.Pro736=) c.2223C>T (p.Pro741=) | gnomAD v4 |
22 | g.20425768G>C | CA513695089 | SCARF2 | c.2208C>G (p.Pro736=) c.2223C>G (p.Pro741=) | |
22 | g.20425768G>T | CA513695092 | SCARF2 | c.2208C>A (p.Pro736=) c.2223C>A (p.Pro741=) | gnomAD v4 |
22 | g.20425769G>A | CA410739066 | SCARF2 | c.2207C>T (p.Pro736Leu) c.2222C>T (p.Pro741Leu) | gnomAD v4 |
22 | g.20425769G>C | CA410739070 | SCARF2 | c.2207C>G (p.Pro736Arg) c.2222C>G (p.Pro741Arg) | |
22 | g.20425769G>T | CA410739068 | SCARF2 | c.2207C>A (p.Pro736His) c.2222C>A (p.Pro741His) | gnomAD v4 |
22 | g.20425770G>A | CA410739072 | SCARF2 | c.2206C>T (p.Pro736Ser) c.2221C>T (p.Pro741Ser) | gnomAD v4 |
22 | g.20425770G>C | CA410739074 | SCARF2 | c.2206C>G (p.Pro736Ala) c.2221C>G (p.Pro741Ala) | |
22 | g.20425770G>T | CA410739076 | SCARF2 | c.2206C>A (p.Pro736Thr) c.2221C>A (p.Pro741Thr) | gnomAD v4 |
22 | g.20425771C>A | CA513695097 | SCARF2 | c.2205G>T (p.Ala735=) c.2220G>T (p.Ala740=) | gnomAD v4 |
22 | g.20425771C>G | CA513695098 | SCARF2 | c.2205G>C (p.Ala735=) c.2220G>C (p.Ala740=) | |
22 | g.20425771C>T | CA513695099 | SCARF2 | c.2205G>A (p.Ala735=) c.2220G>A (p.Ala740=) | gnomAD v4 |
22 | g.20425772G>A | CA10112197 | SCARF2 | c.2204C>T (p.Ala735Val) c.2219C>T (p.Ala740Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425772G>C | CA410739080 | SCARF2 | c.2204C>G (p.Ala735Gly) c.2219C>G (p.Ala740Gly) | |
22 | g.20425772G= | CA2396362753 | SCARF2 | c.2204C= (p.Ala735=) c.2219C= (p.Ala740=) | |
22 | g.20425772G>T | CA410739082 | SCARF2 | c.2204C>A (p.Ala735Glu) c.2219C>A (p.Ala740Glu) | gnomAD v4 |
22 | g.20425773C>A | CA410739085 | SCARF2 | c.2203G>T (p.Ala735Ser) c.2218G>T (p.Ala740Ser) | gnomAD v4 |
22 | g.20425773C>G | CA410739087 | SCARF2 | c.2203G>C (p.Ala735Pro) c.2218G>C (p.Ala740Pro) | |
22 | g.20425773C>T | CA410739089 | SCARF2 | c.2203G>A (p.Ala735Thr) c.2218G>A (p.Ala740Thr) | |
22 | g.20425774A= | CA2396362755 | SCARF2 | c.2202T= (p.Ala734=) c.2217T= (p.Ala739=) | |
22 | g.20425774A>C | CA513695102 | SCARF2 | c.2202T>G (p.Ala734=) c.2217T>G (p.Ala739=) | |
22 | g.20425774A>G | CA513695104 | SCARF2 | c.2202T>C (p.Ala734=) c.2217T>C (p.Ala739=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425774A>T | CA513695105 | SCARF2 | c.2202T>A (p.Ala734=) c.2217T>A (p.Ala739=) | |
22 | g.20425775G>A | CA410739096 | SCARF2 | c.2201C>T (p.Ala734Val) c.2216C>T (p.Ala739Val) | gnomAD v4 |
22 | g.20425775G>C | CA410739094 | SCARF2 | c.2201C>G (p.Ala734Gly) c.2216C>G (p.Ala739Gly) | |
22 | g.20425775G>T | CA410739092 | SCARF2 | c.2201C>A (p.Ala734Asp) c.2216C>A (p.Ala739Asp) | gnomAD v4 |
22 | g.20425776C>A | CA410739099 | SCARF2 | c.2200G>T (p.Ala734Ser) c.2215G>T (p.Ala739Ser) | gnomAD v4 |
22 | g.20425776C>G | CA410739101 | SCARF2 | c.2200G>C (p.Ala734Pro) c.2215G>C (p.Ala739Pro) | |
22 | g.20425776C>T | CA410739103 | SCARF2 | c.2200G>A (p.Ala734Thr) c.2215G>A (p.Ala739Thr) | gnomAD v4 |
22 | g.20425777G>A | CA513695113 | SCARF2 | c.2199C>T (p.Leu733=) c.2214C>T (p.Leu738=) | gnomAD v4 |
22 | g.20425777G>C | CA513695111 | SCARF2 | c.2199C>G (p.Leu733=) c.2214C>G (p.Leu738=) | |
22 | g.20425777G>T | CA513695110 | SCARF2 | c.2199C>A (p.Leu733=) c.2214C>A (p.Leu738=) | gnomAD v4 |
22 | g.20425778A>C | CA410739106 | SCARF2 | c.2198T>G (p.Leu733Arg) c.2213T>G (p.Leu738Arg) | |
22 | g.20425778A>G | CA410739108 | SCARF2 | c.2198T>C (p.Leu733Pro) c.2213T>C (p.Leu738Pro) | gnomAD v4 |
22 | g.20425778A>T | CA410739110 | SCARF2 | c.2198T>A (p.Leu733His) c.2213T>A (p.Leu738His) | |
22 | g.20425779G>A | CA410739112 | SCARF2 | c.2197C>T (p.Leu733Phe) c.2212C>T (p.Leu738Phe) | dbSNP gnomAD v4 |
22 | g.20425779G>C | CA410739115 | SCARF2 | c.2197C>G (p.Leu733Val) c.2212C>G (p.Leu738Val) | |
22 | g.20425779G= | CA2396362757 | SCARF2 | c.2197C= (p.Leu733=) c.2212C= (p.Leu738=) | |
22 | g.20425779G>T | CA410739116 | SCARF2 | c.2197C>A (p.Leu733Ile) c.2212C>A (p.Leu738Ile) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425780G>A | CA513695118 | SCARF2 | c.2196C>T (p.Ala732=) c.2211C>T (p.Ala737=) | dbSNP gnomAD v2 |
22 | g.20425780G>C | CA513695119 | SCARF2 | c.2196C>G (p.Ala732=) c.2211C>G (p.Ala737=) | |
22 | g.20425780G= | CA2396362759 | SCARF2 | c.2196C= (p.Ala732=) c.2211C= (p.Ala737=) | |
22 | g.20425780G>T | CA513695120 | SCARF2 | c.2196C>A (p.Ala732=) c.2211C>A (p.Ala737=) | gnomAD v4 |
22 | g.20425781G>A | CA410739119 | SCARF2 | c.2195C>T (p.Ala732Val) c.2210C>T (p.Ala737Val) | gnomAD v4 |
22 | g.20425781G>C | CA410739121 | SCARF2 | c.2195C>G (p.Ala732Gly) c.2210C>G (p.Ala737Gly) | |
22 | g.20425781G= | CA2396362761 | SCARF2 | c.2195C= (p.Ala732=) c.2210C= (p.Ala737=) | |
22 | g.20425781G>T | CA410739122 | SCARF2 | c.2195C>A (p.Ala732Asp) c.2210C>A (p.Ala737Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425782C>A | CA410739129 | SCARF2 | c.2194G>T (p.Ala732Ser) c.2209G>T (p.Ala737Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425782C= | CA2396362763 | SCARF2 | c.2194G= (p.Ala732=) c.2209G= (p.Ala737=) | |
22 | g.20425782C>G | CA410739125 | SCARF2 | c.2194G>C (p.Ala732Pro) c.2209G>C (p.Ala737Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425782C>T | CA10112198 | SCARF2 | c.2194G>A (p.Ala732Thr) c.2209G>A (p.Ala737Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425783T>A | CA513695127 | SCARF2 | c.2193A>T (p.Thr731=) c.2208A>T (p.Thr736=) | |
22 | g.20425783T>C | CA513695131 | SCARF2 | c.2193A>G (p.Thr731=) c.2208A>G (p.Thr736=) | gnomAD v4 |
22 | g.20425783T>G | CA513695129 | SCARF2 | c.2193A>C (p.Thr731=) c.2208A>C (p.Thr736=) | gnomAD v4 |
22 | g.20425784G>A | CA410739132 | SCARF2 | c.2192C>T (p.Thr731Ile) c.2207C>T (p.Thr736Ile) | gnomAD v4 |
22 | g.20425784G>C | CA10112199 | SCARF2 | c.2192C>G (p.Thr731Arg) c.2207C>G (p.Thr736Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425784G= | CA2396362766 | SCARF2 | c.2192C= (p.Thr731=) c.2207C= (p.Thr736=) | |
22 | g.20425784G>T | CA410739136 | SCARF2 | c.2192C>A (p.Thr731Lys) c.2207C>A (p.Thr736Lys) | gnomAD v4 |
22 | g.20425785T>A | CA410739139 | SCARF2 | c.2191A>T (p.Thr731Ser) c.2206A>T (p.Thr736Ser) | |
22 | g.20425785T>C | CA410739141 | SCARF2 | c.2191A>G (p.Thr731Ala) c.2206A>G (p.Thr736Ala) | gnomAD v4 |
22 | g.20425785T>G | CA410739144 | SCARF2 | c.2191A>C (p.Thr731Pro) c.2206A>C (p.Thr736Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425785T= | CA2396362768 | SCARF2 | c.2191A= (p.Thr731=) c.2206A= (p.Thr736=) | |
22 | g.20425786C>A | CA513695133 | SCARF2 | c.2190G>T (p.Ala730=) c.2205G>T (p.Ala735=) | |
22 | g.20425786C= | CA2396362770 | SCARF2 | c.2190G= (p.Ala730=) c.2205G= (p.Ala735=) | |
22 | g.20425786C>G | CA513695137 | SCARF2 | c.2190G>C (p.Ala730=) c.2205G>C (p.Ala735=) | dbSNP |
22 | g.20425786C>T | CA513695135 | SCARF2 | c.2190G>A (p.Ala730=) c.2205G>A (p.Ala735=) | gnomAD v4 |
22 | g.20425787G>A | CA410739147 | SCARF2 | c.2189C>T (p.Ala730Val) c.2204C>T (p.Ala735Val) | gnomAD v4 |
22 | g.20425787G>C | CA410739148 | SCARF2 | c.2189C>G (p.Ala730Gly) c.2204C>G (p.Ala735Gly) | |
22 | g.20425787G>T | CA410739150 | SCARF2 | c.2189C>A (p.Ala730Glu) c.2204C>A (p.Ala735Glu) | gnomAD v4 |
22 | g.20425788C>A | CA410739153 | SCARF2 | c.2188G>T (p.Ala730Ser) c.2203G>T (p.Ala735Ser) | |
22 | g.20425788C>G | CA410739155 | SCARF2 | c.2188G>C (p.Ala730Pro) c.2203G>C (p.Ala735Pro) | |
22 | g.20425788C>T | CA410739158 | SCARF2 | c.2188G>A (p.Ala730Thr) c.2203G>A (p.Ala735Thr) | gnomAD v4 |
22 | g.20425789C>A | CA410739162 | SCARF2 | c.2187G>T (p.Glu729Asp) c.2202G>T (p.Glu734Asp) | gnomAD v4 |
22 | g.20425789C= | CA2396362773 | SCARF2 | c.2187G= (p.Glu729=) c.2202G= (p.Glu734=) | |
22 | g.20425789C>G | CA410739165 | SCARF2 | c.2187G>C (p.Glu729Asp) c.2202G>C (p.Glu734Asp) | ClinVar dbSNP |
22 | g.20425789C>T | CA10112200 | SCARF2 | c.2187G>A (p.Glu729=) c.2202G>A (p.Glu734=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425790T>A | CA10112201 | SCARF2 | c.2186A>T (p.Glu729Val) c.2201A>T (p.Glu734Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425790T>C | CA410739169 | SCARF2 | c.2186A>G (p.Glu729Gly) c.2201A>G (p.Glu734Gly) | |
22 | g.20425790T>G | CA410739171 | SCARF2 | c.2186A>C (p.Glu729Ala) c.2201A>C (p.Glu734Ala) | gnomAD v4 |
22 | g.20425790T= | CA2396362775 | SCARF2 | c.2186A= (p.Glu729=) c.2201A= (p.Glu734=) | |
22 | g.20425791C>A | CA410739173 | SCARF2 | c.2185G>T (p.Glu729Ter) c.2200G>T (p.Glu734Ter) | |
22 | g.20425791C= | CA2396362777 | SCARF2 | c.2185G= (p.Glu729=) c.2200G= (p.Glu734=) | |
22 | g.20425791C>G | CA410739176 | SCARF2 | c.2185G>C (p.Glu729Gln) c.2200G>C (p.Glu734Gln) | |
22 | g.20425791C>T | CA410739178 | SCARF2 | c.2185G>A (p.Glu729Lys) c.2200G>A (p.Glu734Lys) | dbSNP gnomAD v2 |
22 | g.20425792C>A | CA410739181 | SCARF2 | c.2184G>T (p.Glu728Asp) c.2199G>T (p.Glu733Asp) | gnomAD v4 |
22 | g.20425792C= | CA2396362779 | SCARF2 | c.2184G= (p.Glu728=) c.2199G= (p.Glu733=) | |
22 | g.20425792C>G | CA410739183 | SCARF2 | c.2184G>C (p.Glu728Asp) c.2199G>C (p.Glu733Asp) | |
22 | g.20425792C>T | CA10112202 | SCARF2 | c.2184G>A (p.Glu728=) c.2199G>A (p.Glu733=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425793T>A | CA410739186 | SCARF2 | c.2183A>T (p.Glu728Val) c.2198A>T (p.Glu733Val) | |
22 | g.20425793T>C | CA410739187 | SCARF2 | c.2183A>G (p.Glu728Gly) c.2198A>G (p.Glu733Gly) | gnomAD v4 |
22 | g.20425793T>G | CA410739189 | SCARF2 | c.2183A>C (p.Glu728Ala) c.2198A>C (p.Glu733Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425793T= | CA2396362781 | SCARF2 | c.2183A= (p.Glu728=) c.2198A= (p.Glu733=) | |
22 | g.20425794C>A | CA10112204 | SCARF2 | c.2182G>T (p.Glu728Ter) c.2197G>T (p.Glu733Ter) | dbSNP ExAC gnomAD v4 |
22 | g.20425794C= | CA2396362784 | SCARF2 | c.2182G= (p.Glu728=) c.2197G= (p.Glu733=) | |
22 | g.20425794C>G | CA410739193 | SCARF2 | c.2182G>C (p.Glu728Gln) c.2197G>C (p.Glu733Gln) | |
22 | g.20425794C>T | CA10112203 | SCARF2 | c.2182G>A (p.Glu728Lys) c.2197G>A (p.Glu733Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425795G>A | CA513694267 | SCARF2 | c.2181C>T (p.Pro727=) c.2196C>T (p.Pro732=) | gnomAD v4 |
22 | g.20425795G>C | CA513694268 | SCARF2 | c.2181C>G (p.Pro727=) c.2196C>G (p.Pro732=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425795G= | CA2396362786 | SCARF2 | c.2181C= (p.Pro727=) c.2196C= (p.Pro732=) | |
22 | g.20425795G>T | CA513694266 | SCARF2 | c.2181C>A (p.Pro727=) c.2196C>A (p.Pro732=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425796G>A | CA10112205 | SCARF2 | c.2180C>T (p.Pro727Leu) c.2195C>T (p.Pro732Leu) | dbSNP ExAC gnomAD v4 |
22 | g.20425796G>C | CA410739198 | SCARF2 | c.2180C>G (p.Pro727Arg) c.2195C>G (p.Pro732Arg) | |
22 | g.20425796G= | CA2396362788 | SCARF2 | c.2180C= (p.Pro727=) c.2195C= (p.Pro732=) | |
22 | g.20425796G>T | CA410739201 | SCARF2 | c.2180C>A (p.Pro727His) c.2195C>A (p.Pro732His) | gnomAD v4 |
22 | g.20425797G>A | CA410739204 | SCARF2 | c.2179C>T (p.Pro727Ser) c.2194C>T (p.Pro732Ser) | gnomAD v4 |
22 | g.20425797G>C | CA410739205 | SCARF2 | c.2179C>G (p.Pro727Ala) c.2194C>G (p.Pro732Ala) | gnomAD v4 |
22 | g.20425797G= | CA2396362790 | SCARF2 | c.2179C= (p.Pro727=) c.2194C= (p.Pro732=) | |
22 | g.20425797G>T | CA410739207 | SCARF2 | c.2179C>A (p.Pro727Thr) c.2194C>A (p.Pro732Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425798C>A | CA513694270 | SCARF2 | c.2178G>T (p.Leu726=) c.2193G>T (p.Leu731=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425798C= | CA2396362792 | SCARF2 | c.2178G= (p.Leu726=) c.2193G= (p.Leu731=) | |
22 | g.20425798C>G | CA513694269 | SCARF2 | c.2178G>C (p.Leu726=) c.2193G>C (p.Leu731=) | |
22 | g.20425798C>T | CA513694271 | SCARF2 | c.2178G>A (p.Leu726=) c.2193G>A (p.Leu731=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425799A= | CA2396362794 | SCARF2 | c.2177T= (p.Leu726=) c.2192T= (p.Leu731=) | |
22 | g.20425799A>C | CA410739210 | SCARF2 | c.2177T>G (p.Leu726Arg) c.2192T>G (p.Leu731Arg) | |
22 | g.20425799A>G | CA410739212 | SCARF2 | c.2177T>C (p.Leu726Pro) c.2192T>C (p.Leu731Pro) | gnomAD v4 |
22 | g.20425799A>T | CA10112206 | SCARF2 | c.2177T>A (p.Leu726Gln) c.2192T>A (p.Leu731Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425800G>A | CA513694272 | SCARF2 | c.2176C>T (p.Leu726=) c.2191C>T (p.Leu731=) | gnomAD v2 gnomAD v4 |
22 | g.20425800G>C | CA410739217 | SCARF2 | c.2176C>G (p.Leu726Val) c.2191C>G (p.Leu731Val) | |
22 | g.20425800G= | CA2396362796 | SCARF2 | c.2176C= (p.Leu726=) c.2191C= (p.Leu731=) | |
22 | g.20425800G>T | CA10112207 | SCARF2 | c.2176C>A (p.Leu726Met) c.2191C>A (p.Leu731Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425801C>A | CA10112208 | SCARF2 | c.2175G>T (p.Gly725=) c.2190G>T (p.Gly730=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425801C= | CA2396362798 | SCARF2 | c.2175G= (p.Gly725=) c.2190G= (p.Gly730=) | |
22 | g.20425801C>G | CA513694274 | SCARF2 | c.2175G>C (p.Gly725=) c.2190G>C (p.Gly730=) | |
22 | g.20425801C>T | CA513694273 | SCARF2 | c.2175G>A (p.Gly725=) c.2190G>A (p.Gly730=) | gnomAD v4 |
22 | g.20425803del | CA322182304 | SCARF2 | c.2175del (p.Leu726CysfsTer?) c.2190del (p.Leu731CysfsTer?) | |
22 | g.20425802C>A | CA410739229 | SCARF2 | c.2174G>T (p.Gly725Val) c.2189G>T (p.Gly730Val) | gnomAD v4 |
22 | g.20425802C= | CA2396362800 | SCARF2 | c.2174G= (p.Gly725=) c.2189G= (p.Gly730=) | |
22 | g.20425802C>G | CA410739228 | SCARF2 | c.2174G>C (p.Gly725Ala) c.2189G>C (p.Gly730Ala) | |
22 | g.20425802C>T | CA410739226 | SCARF2 | c.2174G>A (p.Gly725Glu) c.2189G>A (p.Gly730Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425803C>A | CA10112210 | SCARF2 | c.2173G>T (p.Gly725Trp) c.2188G>T (p.Gly730Trp) | dbSNP ExAC gnomAD v4 |
22 | g.20425803C= | CA2396362803 | SCARF2 | c.2173G= (p.Gly725=) c.2188G= (p.Gly730=) | |
22 | g.20425803C>G | CA410739233 | SCARF2 | c.2173G>C (p.Gly725Arg) c.2188G>C (p.Gly730Arg) | |
22 | g.20425803C>T | CA10112209 | SCARF2 | c.2173G>A (p.Gly725Arg) c.2188G>A (p.Gly730Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425803_20425805delinsCGG | CA2396362802 | SCARF2 | c.2171_2173delinsCCG (p.Pro724=) c.2186_2188delinsCCG (p.Pro729=) | |
22 | g.20425804G>A | CA751517270 | SCARF2 | c.2172C>T (p.Pro724=) c.2187C>T (p.Pro729=) | dbSNP gnomAD v4 |
22 | g.20425804G>C | CA322182315 | SCARF2 | c.2172C>G (p.Pro724=) c.2187C>G (p.Pro729=) | dbSNP gnomAD v4 |
22 | g.20425804G= | CA10112211 | SCARF2 | c.2172C= (p.Pro724=) c.2187C= (p.Pro729=) | |
22 | g.20425804G>T | CA10112212 | SCARF2 | c.2172C>A (p.Pro724=) c.2187C>A (p.Pro729=) | dbSNP gnomAD v4 |
22 | g.20425809dup | CA2655397163 | SCARF2 | c.2172dup (p.Gly725ArgfsTer?) c.2187dup (p.Gly730ArgfsTer?) | gnomAD v4 |
22 | g.20425809del | CA322182318 | SCARF2 | c.2172del (p.Leu726CysfsTer?) c.2187del (p.Leu731CysfsTer?) | dbSNP gnomAD v4 |
22 | g.20425808_20425809del | CA322182313 | SCARF2 | c.2171_2172del (p.Pro724ArgfsTer?) c.2186_2187del (p.Pro729ArgfsTer?) | dbSNP |
22 | g.20425805G>A | CA10112213 | SCARF2 | c.2171C>T (p.Pro724Leu) c.2186C>T (p.Pro729Leu) | dbSNP ExAC gnomAD v4 |
22 | g.20425805G>C | CA513694276 | SCARF2 | c.2171C>G (p.Pro724Arg) c.2186C>G (p.Pro729Arg) | gnomAD v4 |
22 | g.20425805G= | CA2396362806 | SCARF2 | c.2171C= (p.Pro724=) c.2186C= (p.Pro729=) | |
22 | g.20425805G>T | CA513694275 | SCARF2 | c.2171C>A (p.Pro724His) c.2186C>A (p.Pro729His) | gnomAD v4 |
22 | g.20425806G>A | CA10112214 | SCARF2 | c.2170C>T (p.Pro724Ser) c.2185C>T (p.Pro729Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425806G>C | CA513694277 | SCARF2 | c.2170C>G (p.Pro724Ala) c.2185C>G (p.Pro729Ala) | |
22 | g.20425806G= | CA2396362808 | SCARF2 | c.2170C= (p.Pro724=) c.2185C= (p.Pro729=) | |
22 | g.20425806G>T | CA513694278 | SCARF2 | c.2170C>A (p.Pro724Thr) c.2185C>A (p.Pro729Thr) | gnomAD v4 |
22 | g.20425807G>A | CA513694281 | SCARF2 | c.2169C>T (p.Pro723=) c.2184C>T (p.Pro728=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425807G>C | CA513694280 | SCARF2 | c.2169C>G (p.Pro723=) c.2184C>G (p.Pro728=) | |
22 | g.20425807G= | CA2396362810 | SCARF2 | c.2169C= (p.Pro723=) c.2184C= (p.Pro728=) | |
22 | g.20425807G>T | CA513694279 | SCARF2 | c.2169C>A (p.Pro723=) c.2184C>A (p.Pro728=) | gnomAD v4 |
22 | g.20425808G>A | CA513694283 | SCARF2 | c.2168C>T (p.Pro723Leu) c.2183C>T (p.Pro728Leu) | gnomAD v4 |
22 | g.20425808G>C | CA513694282 | SCARF2 | c.2168C>G (p.Pro723Arg) c.2183C>G (p.Pro728Arg) | |
22 | g.20425808G= | CA2396362812 | SCARF2 | c.2168C= (p.Pro723=) c.2183C= (p.Pro728=) | |
22 | g.20425808G>T | CA513694284 | SCARF2 | c.2168C>A (p.Pro723His) c.2183C>A (p.Pro728His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425809G>A | CA513694287 | SCARF2 | c.2167C>T (p.Pro723Ser) c.2182C>T (p.Pro728Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425809G>C | CA513694285 | SCARF2 | c.2167C>G (p.Pro723Ala) c.2182C>G (p.Pro728Ala) | gnomAD v4 |
22 | g.20425809G= | CA2396362813 | SCARF2 | c.2167C= (p.Pro723=) c.2182C= (p.Pro728=) | |
22 | g.20425809G>T | CA513694286 | SCARF2 | c.2167C>A (p.Pro723Thr) c.2182C>A (p.Pro728Thr) | gnomAD v3 gnomAD v4 |
22 | g.20425810C>A | CA2580673562 | SCARF2 | c.2166G>T (p.Arg722=) c.2181G>T (p.Arg727=) | gnomAD v4 |
22 | g.20425810C= | CA10112215 | SCARF2 | c.2166G= (p.Arg722=) c.2181G= (p.Arg727=) | |
22 | g.20425810C>G | CA322182340 | SCARF2 | c.2166G>C (p.Arg722=) c.2181G>C (p.Arg727=) | dbSNP gnomAD v4 |
22 | g.20425810C>T | CA2580673561 | SCARF2 | c.2166G>A (p.Arg722=) c.2181G>A (p.Arg727=) | gnomAD v4 |
22 | g.20425810_20425811insTC | CA322182327 | SCARF2 | c.2166_2167insAG (p.Pro723SerfsTer?) c.2181_2182insAG (p.Pro728SerfsTer?) | dbSNP |
22 | g.20425811dup | CA322182333 | SCARF2 | c.2166dup (p.Pro723AlafsTer?) c.2181dup (p.Pro728AlafsTer?) | dbSNP |