Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.20425710C>ACA410738779SCARF2c.2266G>T (p.Ala756Ser)
c.2279G>T (p.Arg760Leu)
c.2281G>T (p.Ala761Ser)
gnomAD v4
22g.20425710C>GCA410738781SCARF2c.2266G>C (p.Ala756Pro)
c.2279G>C (p.Arg760Pro)
c.2281G>C (p.Ala761Pro)
22g.20425710C>TCA410738783SCARF2c.2266G>A (p.Ala756Thr)
c.2279G>A (p.Arg760His)
c.2281G>A (p.Ala761Thr)
gnomAD v4
22g.20425711G>ACA410738789SCARF2c.2265C>T (p.Asp755=)
c.2278C>T (p.Arg760Cys)
c.2280C>T (p.Asp760=)
gnomAD v4
22g.20425711G>CCA410738788SCARF2c.2265C>G (p.Asp755Glu)
c.2278C>G (p.Arg760Gly)
c.2280C>G (p.Asp760Glu)
22g.20425711G>TCA410738786SCARF2c.2265C>A (p.Asp755Glu)
c.2278C>A (p.Arg760Ser)
c.2280C>A (p.Asp760Glu)
22g.20425712T>ACA410738793SCARF2c.2264A>T (p.Asp755Val)
c.2277A>T (p.Gly759=)
c.2279A>T (p.Asp760Val)
22g.20425712T>CCA410738794SCARF2c.2264A>G (p.Asp755Gly)
c.2277A>G (p.Gly759=)
c.2279A>G (p.Asp760Gly)
22g.20425712T>GCA410738797SCARF2c.2264A>C (p.Asp755Ala)
c.2277A>C (p.Gly759=)
c.2279A>C (p.Asp760Ala)
22g.20425713C>ACA410738799SCARF2c.2263G>T (p.Asp755Tyr)
c.2276G>T (p.Gly759Val)
c.2278G>T (p.Asp760Tyr)
22g.20425713C=CA2396362684SCARF2c.2263G= (p.Asp755=)
c.2276G= (p.Gly759=)
c.2278G= (p.Asp760=)
22g.20425713C>GCA410738800SCARF2c.2263G>C (p.Asp755His)
c.2276G>C (p.Gly759Ala)
c.2278G>C (p.Asp760His)
22g.20425713C>TCA322182225SCARF2c.2263G>A (p.Asp755Asn)
c.2276G>A (p.Gly759Glu)
c.2278G>A (p.Asp760Asn)
dbSNP gnomAD v3 gnomAD v4
22g.20425714C>ACA410738803SCARF2c.2262G>T (p.Thr754=)
c.2275G>T (p.Gly759Ter)
c.2277G>T (p.Thr759=)
gnomAD v4
22g.20425714C>GCA410738805SCARF2c.2262G>C (p.Thr754=)
c.2275G>C (p.Gly759Arg)
c.2277G>C (p.Thr759=)
gnomAD v4
22g.20425714C>TCA410738808SCARF2c.2262G>A (p.Thr754=)
c.2275G>A (p.Gly759Arg)
c.2277G>A (p.Thr759=)
22g.20425715G>ACA410738811SCARF2c.2261C>T (p.Thr754Met)
c.2274C>T (p.His758=)
c.2276C>T (p.Thr759Met)
gnomAD v4
22g.20425715G>CCA410738813SCARF2c.2261C>G (p.Thr754Arg)
c.2274C>G (p.His758Gln)
c.2276C>G (p.Thr759Arg)
gnomAD v4
22g.20425715G=CA2396362686SCARF2c.2261C= (p.Thr754=)
c.2274C= (p.His758=)
c.2276C= (p.Thr759=)
22g.20425715G>TCA10112194SCARF2c.2261C>A (p.Thr754Lys)
c.2274C>A (p.His758Gln)
c.2276C>A (p.Thr759Lys)
dbSNP ExAC gnomAD v4
22g.20425716T>ACA410738821SCARF2c.2260A>T (p.Thr754Ser)
c.2273A>T (p.His758Leu)
c.2275A>T (p.Thr759Ser)
gnomAD v4
22g.20425716T>CCA410738819SCARF2c.2260A>G (p.Thr754Ala)
c.2273A>G (p.His758Arg)
c.2275A>G (p.Thr759Ala)
22g.20425716T>GCA410738817SCARF2c.2260A>C (p.Thr754Pro)
c.2273A>C (p.His758Pro)
c.2275A>C (p.Thr759Pro)
22g.20425717G>ACA410738824SCARF2c.2259C>T (p.Pro753=)
c.2272C>T (p.His758Tyr)
c.2274C>T (p.Pro758=)
22g.20425717G>CCA410738826SCARF2c.2259C>G (p.Pro753=)
c.2272C>G (p.His758Asp)
c.2274C>G (p.Pro758=)
dbSNP gnomAD v4
22g.20425717G=CA2396362688SCARF2c.2259C= (p.Pro753=)
c.2272C= (p.His758=)
c.2274C= (p.Pro758=)
22g.20425717G>TCA410738828SCARF2c.2259C>A (p.Pro753=)
c.2272C>A (p.His758Asn)
c.2274C>A (p.Pro758=)
gnomAD v4
22g.20425718G>ACA410738829SCARF2c.2258C>T (p.Pro753Leu)
c.2271C>T (p.Ala757=)
c.2273C>T (p.Pro758Leu)
dbSNP gnomAD v3 gnomAD v4
22g.20425718G>CCA410738831SCARF2c.2258C>G (p.Pro753Arg)
c.2271C>G (p.Ala757=)
c.2273C>G (p.Pro758Arg)
22g.20425718G=CA2396362691SCARF2c.2258C= (p.Pro753=)
c.2271C= (p.Ala757=)
c.2273C= (p.Pro758=)
22g.20425718G>TCA410738832SCARF2c.2258C>A (p.Pro753His)
c.2271C>A (p.Ala757=)
c.2273C>A (p.Pro758His)
22g.20425719G>ACA410738836SCARF2c.2257C>T (p.Pro753Ser)
c.2270C>T (p.Ala757Val)
c.2272C>T (p.Pro758Ser)
dbSNP gnomAD v4
22g.20425719G>CCA410738837SCARF2c.2257C>G (p.Pro753Ala)
c.2270C>G (p.Ala757Gly)
c.2272C>G (p.Pro758Ala)
22g.20425719G=CA2396362692SCARF2c.2257C= (p.Pro753=)
c.2270C= (p.Ala757=)
c.2272C= (p.Pro758=)
22g.20425719G>TCA410738839SCARF2c.2257C>A (p.Pro753Thr)
c.2270C>A (p.Ala757Asp)
c.2272C>A (p.Pro758Thr)
gnomAD v4
22g.20425720C>ACA410738840SCARF2c.2256G>T (p.Glu752Asp)
c.2269G>T (p.Ala757Ser)
c.2271G>T (p.Glu757Asp)
gnomAD v4
22g.20425720C=CA2396362694SCARF2c.2256G= (p.Glu752=)
c.2269G= (p.Ala757=)
c.2271G= (p.Glu757=)
22g.20425720C>GCA410738842SCARF2c.2256G>C (p.Glu752Asp)
c.2269G>C (p.Ala757Pro)
c.2271G>C (p.Glu757Asp)
22g.20425720C>TCA410738844SCARF2c.2256G>A (p.Glu752=)
c.2269G>A (p.Ala757Thr)
c.2271G>A (p.Glu757=)
dbSNP gnomAD v4
22g.20425721T>ACA410738850SCARF2c.2255A>T (p.Glu752Val)
c.2268A>T (p.Gly756=)
c.2270A>T (p.Glu757Val)
22g.20425721T>CCA410738848SCARF2c.2255A>G (p.Glu752Gly)
c.2268A>G (p.Gly756=)
c.2270A>G (p.Glu757Gly)
gnomAD v4
22g.20425721T>GCA410738847SCARF2c.2255A>C (p.Glu752Ala)
c.2268A>C (p.Gly756=)
c.2270A>C (p.Glu757Ala)
22g.20425722C>ACA410738852SCARF2c.2254G>T (p.Glu752Ter)
c.2267G>T (p.Gly756Val)
c.2269G>T (p.Glu757Ter)
22g.20425722C>GCA410738856SCARF2c.2254G>C (p.Glu752Gln)
c.2267G>C (p.Gly756Ala)
c.2269G>C (p.Glu757Gln)
22g.20425722C>TCA410738858SCARF2c.2254G>A (p.Glu752Lys)
c.2267G>A (p.Gly756Glu)
c.2269G>A (p.Glu757Lys)
22g.20425723C>ACA410738860SCARF2c.2253G>T (p.Leu751Phe)
c.2266G>T (p.Gly756Ter)
c.2268G>T (p.Leu756Phe)
gnomAD v4
22g.20425723C=CA2396362696SCARF2c.2253G= (p.Leu751=)
c.2266G= (p.Gly756=)
c.2268G= (p.Leu756=)
22g.20425723C>GCA410738863SCARF2c.2253G>C (p.Leu751Phe)
c.2266G>C (p.Gly756Arg)
c.2268G>C (p.Leu756Phe)
22g.20425723C>TCA410738864SCARF2c.2253G>A (p.Leu751=)
c.2266G>A (p.Gly756Arg)
c.2268G>A (p.Leu756=)
dbSNP
22g.20425724A=CA2396362698SCARF2c.2252T= (p.Leu751=)
c.2265T= (p.Leu755=)
c.2267T= (p.Leu756=)
22g.20425724A>CCA410738867SCARF2c.2252T>G (p.Leu751Trp)
c.2265T>G (p.Leu755=)
c.2267T>G (p.Leu756Trp)
dbSNP gnomAD v3 gnomAD v4
22g.20425724A>GCA410738870SCARF2c.2252T>C (p.Leu751Ser)
c.2265T>C (p.Leu755=)
c.2267T>C (p.Leu756Ser)
gnomAD v4
22g.20425724A>TCA410738873SCARF2c.2252T>A (p.Leu751Ter)
c.2265T>A (p.Leu755=)
c.2267T>A (p.Leu756Ter)
22g.20425725delCA2655397155SCARF2c.2252del (p.Leu751TrpfsTer?)
c.2265del (p.Gly756GlufsTer?)
c.2267del (p.Leu756TrpfsTer?)
gnomAD v4
22g.20425725A>CCA410738875SCARF2c.2251T>G (p.Leu751Val)
c.2264T>G (p.Leu755Arg)
c.2266T>G (p.Leu756Val)
22g.20425725A>GCA410738877SCARF2c.2251T>C (p.Leu751=)
c.2264T>C (p.Leu755Pro)
c.2266T>C (p.Leu756=)
22g.20425725A>TCA410738878SCARF2c.2251T>A (p.Leu751Met)
c.2264T>A (p.Leu755His)
c.2266T>A (p.Leu756Met)
22g.20425726G>ACA410738880SCARF2c.2250C>T (p.Leu750=)
c.2263C>T (p.Leu755Phe)
c.2265C>T (p.Leu755=)
dbSNP gnomAD v3 gnomAD v4
22g.20425726G>CCA410738884SCARF2c.2250C>G (p.Leu750=)
c.2263C>G (p.Leu755Val)
c.2265C>G (p.Leu755=)
22g.20425726G=CA2396362700SCARF2c.2250C= (p.Leu750=)
c.2263C= (p.Leu755=)
c.2265C= (p.Leu755=)
22g.20425726G>TCA410738882SCARF2c.2250C>A (p.Leu750=)
c.2263C>A (p.Leu755Ile)
c.2265C>A (p.Leu755=)
22g.20425727_20425732dupCA2577652137SCARF2c.2245_2250dup (p.Leu750_Leu751insGlyLeu)
c.2258_2263dup (p.Pro754_Leu755insArgPro)
c.2260_2265dup (p.Leu755_Leu756insGlyLeu)
gnomAD v4
22g.20425727A=CA2396362702SCARF2c.2249T= (p.Leu750=)
c.2262T= (p.Pro754=)
c.2264T= (p.Leu755=)
22g.20425727A>CCA410738886SCARF2c.2249T>G (p.Leu750Arg)
c.2262T>G (p.Pro754=)
c.2264T>G (p.Leu755Arg)
dbSNP
22g.20425727A>GCA410738890SCARF2c.2249T>C (p.Leu750Pro)
c.2262T>C (p.Pro754=)
c.2264T>C (p.Leu755Pro)
22g.20425727A>TCA410738888SCARF2c.2249T>A (p.Leu750His)
c.2262T>A (p.Pro754=)
c.2264T>A (p.Leu755His)
22g.20425728G>ACA410738893SCARF2c.2248C>T (p.Leu750Phe)
c.2261C>T (p.Pro754Leu)
c.2263C>T (p.Leu755Phe)
22g.20425728G>CCA410738895SCARF2c.2248C>G (p.Leu750Val)
c.2261C>G (p.Pro754Arg)
c.2263C>G (p.Leu755Val)
22g.20425728G>TCA410738897SCARF2c.2248C>A (p.Leu750Ile)
c.2261C>A (p.Pro754His)
c.2263C>A (p.Leu755Ile)
22g.20425729dupCA2573054974SCARF2c.2248dup (p.Leu750ProfsTer24)
c.2261dup (p.Leu755SerfsTer23)
c.2263dup (p.Leu755ProfsTer24)
ClinVar dbSNP
22g.20425729G>ACA410738899SCARF2c.2247C>T (p.Gly749=)
c.2260C>T (p.Pro754Ser)
c.2262C>T (p.Gly754=)
gnomAD v4
22g.20425729G>CCA410738901SCARF2c.2247C>G (p.Gly749=)
c.2260C>G (p.Pro754Ala)
c.2262C>G (p.Gly754=)
ClinVar dbSNP
22g.20425729G=CA2396362704SCARF2c.2247C= (p.Gly749=)
c.2260C= (p.Pro754=)
c.2262C= (p.Gly754=)
22g.20425729G>TCA410738903SCARF2c.2247C>A (p.Gly749=)
c.2260C>A (p.Pro754Thr)
c.2262C>A (p.Gly754=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425730C>ACA410738910SCARF2c.2246G>T (p.Gly749Val)
c.2259G>T (p.Arg753=)
c.2261G>T (p.Gly754Val)
22g.20425730C>GCA410738906SCARF2c.2246G>C (p.Gly749Ala)
c.2259G>C (p.Arg753=)
c.2261G>C (p.Gly754Ala)
22g.20425730C>TCA410738908SCARF2c.2246G>A (p.Gly749Asp)
c.2259G>A (p.Arg753=)
c.2261G>A (p.Gly754Asp)
gnomAD v4
22g.20425731_20425737delCA2577652138SCARF2c.2240_2246del (p.Gly747AlafsTer?)
c.2254-1_2259del
c.2255_2261del (p.Gly752AlafsTer?)
22g.20425731C>ACA410738914SCARF2c.2245G>T (p.Gly749Cys)
c.2258G>T (p.Arg753Leu)
c.2260G>T (p.Gly754Cys)
gnomAD v4
22g.20425731C=CA2396362706SCARF2c.2245G= (p.Gly749=)
c.2258G= (p.Arg753=)
c.2260G= (p.Gly754=)
22g.20425731C>GCA410738916SCARF2c.2245G>C (p.Gly749Arg)
c.2258G>C (p.Arg753Pro)
c.2260G>C (p.Gly754Arg)
22g.20425731C>TCA10112195SCARF2c.2245G>A (p.Gly749Ser)
c.2258G>A (p.Arg753Gln)
c.2260G>A (p.Gly754Ser)
dbSNP ExAC
22g.20425731_20425732insACA2818417616SCARF2c.2244_2245insT (p.Gly749TrpfsTer25)
c.2257_2258insT (p.Arg753LeufsTer25)
c.2259_2260insT (p.Gly754TrpfsTer25)
22g.20425732G>ACA410738919SCARF2c.2244C>T (p.Pro748=)
c.2257C>T (p.Arg753Trp)
c.2259C>T (p.Pro753=)
gnomAD v4
22g.20425732G>CCA410738920SCARF2c.2244C>G (p.Pro748=)
c.2257C>G (p.Arg753Gly)
c.2259C>G (p.Pro753=)
gnomAD v4
22g.20425732G>TCA513694994SCARF2c.2244C>A (p.Pro748=)
c.2257C>A (p.Arg753=)
c.2259C>A (p.Pro753=)
22g.20425735delCA2655397156SCARF2c.2244del (p.Gly749AlafsTer?)
c.2257del (p.Arg753GlyfsTer?)
c.2259del (p.Gly754AlafsTer?)
gnomAD v4
22g.20425743_20425816delCA1024179497SCARF2c.2171_2244del (p.Pro724ArgfsTer25)
c.2186_2257del
c.2186_2259del (p.Pro729ArgfsTer25)
22g.20425732_20425733insTCA513694996SCARF2c.2243_2244insA (p.Gly749ArgfsTer25)
c.2256_2257insA (p.Arg753ThrfsTer25)
c.2258_2259insA (p.Gly754ArgfsTer25)
22g.20425733G>ACA410738929SCARF2c.2243C>T (p.Pro748Leu)
c.2256C>T (p.Pro752=)
c.2258C>T (p.Pro753Leu)
22g.20425733G>CCA410738923SCARF2c.2243C>G (p.Pro748Arg)
c.2256C>G (p.Pro752=)
c.2258C>G (p.Pro753Arg)
22g.20425733G>TCA410738926SCARF2c.2243C>A (p.Pro748His)
c.2256C>A (p.Pro752=)
c.2258C>A (p.Pro753His)
gnomAD v4
22g.20425734G>ACA410738932SCARF2c.2242C>T (p.Pro748Ser)
c.2255C>T (p.Pro752Leu)
c.2257C>T (p.Pro753Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425734G>CCA410738934SCARF2c.2242C>G (p.Pro748Ala)
c.2255C>G (p.Pro752Arg)
c.2257C>G (p.Pro753Ala)
22g.20425734G=CA2396362708SCARF2c.2242C= (p.Pro748=)
c.2255C= (p.Pro752=)
c.2257C= (p.Pro753=)
22g.20425734G>TCA410738939SCARF2c.2242C>A (p.Pro748Thr)
c.2255C>A (p.Pro752His)
c.2257C>A (p.Pro753Thr)
22g.20425738_20425743dupCA2655397157SCARF2c.2237_2242dup (p.Gly747_Pro748insArgGly)
c.2251_2255dup
c.2252_2257dup (p.Gly752_Pro753insArgGly)
gnomAD v4
22g.20425734_20425735insACA638940763SCARF2c.2241_2242insT (p.Pro748SerfsTer26)
c.2254_2255insT (p.Pro752LeufsTer26)
c.2256_2257insT (p.Pro753SerfsTer26)
dbSNP gnomAD v2
22g.20425735G>ACA410738942SCARF2c.2241C>T (p.Gly747=)
c.2254C>T (p.Pro752Ser)
c.2256C>T (p.Gly752=)
dbSNP gnomAD v3 gnomAD v4
22g.20425735G>CCA410738948SCARF2c.2241C>G (p.Gly747=)
c.2254C>G (p.Pro752Ala)
c.2256C>G (p.Gly752=)
gnomAD v2
22g.20425735G=CA2396362711SCARF2c.2241C= (p.Gly747=)
c.2254C= (p.Pro752=)
c.2256C= (p.Gly752=)
22g.20425735G>TCA410738950SCARF2c.2241C>A (p.Gly747=)
c.2254C>A (p.Pro752Thr)
c.2256C>A (p.Gly752=)
gnomAD v4
22g.20425735_20425736insTCA638940764SCARF2c.2240_2241insA (p.Gly749ArgfsTer25)
c.2254-1_2254insA (n.2254-1_2254insA)
c.2255_2256insA (p.Gly754ArgfsTer25)
gnomAD v2
22g.20425736C>ACA410738955SCARF2c.2240G>T (p.Gly747Val)
c.2254-1G>T (n.2254-1G>T)
c.2255G>T (p.Gly752Val)
gnomAD v4
22g.20425736C=CA2396362715SCARF2c.2240G= (p.Gly747=)
c.2254-1G= (n.2254-1G=)
c.2255G= (p.Gly752=)
22g.20425736C>GCA410738957SCARF2c.2240G>C (p.Gly747Ala)
c.2254-1G>C (n.2254-1G>C)
c.2255G>C (p.Gly752Ala)
22g.20425736C>TCA410738959SCARF2c.2240G>A (p.Gly747Asp)
c.2254-1G>A (n.2254-1G>A)
c.2255G>A (p.Gly752Asp)
dbSNP gnomAD v3 gnomAD v4
22g.20425737dupCA16609797SCARF2c.2240dup (p.Gly749ArgfsTer25)
c.2254-1dup
c.2255dup (p.Gly754ArgfsTer25)
ClinVar dbSNP
22g.20425737C>ACA1024179505SCARF2c.2239G>T (p.Gly747Cys)
c.2253G>T (p.Ala751=)
c.2254G>T (p.Gly752Cys)
dbSNP gnomAD v3 gnomAD v4
22g.20425737C=CA2396362719SCARF2c.2239G= (p.Gly747=)
c.2253G= (p.Ala751=)
c.2254G= (p.Gly752=)
22g.20425737C>TCA2655397159SCARF2c.2239G>A (p.Gly747Ser)
c.2253G>A (p.Ala751=)
c.2254G>A (p.Gly752Ser)
gnomAD v4
22g.20425737_20425741delinsCGCGGCA2396362720SCARF2c.2235_2239delinsCCGCG (p.Gly745=)
c.2249_2253delinsCCGCG (p.Ala750=)
c.2250_2254delinsCCGCG (p.Gly750=)
22g.20425738_20425749delCA2655397158SCARF2c.2228_2239del (p.Ala743_Arg746del)
c.2243_2253del
c.2243_2254del (p.Ala748_Arg751del)
gnomAD v4
22g.20425737_20425738insACA638940765SCARF2c.2238_2239insT (p.Gly747TrpfsTer27)
c.2252_2253insT (p.Pro752AlafsTer26)
c.2253_2254insT (p.Gly752TrpfsTer27)
gnomAD v2
22g.20425737_20425738insCGCA913086861SCARF2c.2238_2239insCG (p.Gly747ArgfsTer?)
c.2252_2253insCG (p.Pro752GlyfsTer?)
c.2253_2254insCG (p.Gly752ArgfsTer?)
dbSNP
22g.20425738delCA2737989247SCARF2c.2238del (p.Gly747AlafsTer?)
c.2252del (p.Ala751GlyfsTer?)
c.2253del (p.Gly752AlafsTer?)
dbSNP
22g.20425738G>ACA513694999SCARF2c.2238C>T (p.Arg746=)
c.2252C>T (p.Ala751Val)
c.2253C>T (p.Arg751=)
dbSNP gnomAD v4
22g.20425738G>CCA322182245SCARF2c.2238C>G (p.Arg746=)
c.2252C>G (p.Ala751Gly)
c.2253C>G (p.Arg751=)
dbSNP
22g.20425738G=CA2396362724SCARF2c.2238C= (p.Arg746=)
c.2252C= (p.Ala751=)
c.2253C= (p.Arg751=)
22g.20425738G>TCA513695001SCARF2c.2238C>A (p.Arg746=)
c.2252C>A (p.Ala751Glu)
c.2253C>A (p.Arg751=)
gnomAD v4
22g.20425738_20425739delinsGCCA2396362725SCARF2c.2237_2238delinsGC (p.Arg746=)
c.2251_2252delinsGC (p.Ala751=)
c.2252_2253delinsGC (p.Arg751=)
22g.20425738_20425741delCA751517094SCARF2c.2235_2238del (p.Arg746AlafsTer?)
c.2249_2252del (p.Ala750GlyfsTer?)
c.2250_2253del (p.Arg751AlafsTer?)
dbSNP
22g.20425739delCA920338353SCARF2c.2237del (p.Arg746ProfsTer?)
c.2251del (p.Ala751ArgfsTer?)
c.2252del (p.Arg751ProfsTer?)
dbSNP
22g.20425739C>ACA513695005SCARF2c.2237G>T (p.Arg746Leu)
c.2251G>T (p.Ala751Ser)
c.2252G>T (p.Arg751Leu)
22g.20425739C=CA2396362727SCARF2c.2237G= (p.Arg746=)
c.2251G= (p.Ala751=)
c.2252G= (p.Arg751=)
22g.20425739C>GCA513695003SCARF2c.2237G>C (p.Arg746Pro)
c.2251G>C (p.Ala751Pro)
c.2252G>C (p.Arg751Pro)
22g.20425739C>TCA513695002SCARF2c.2237G>A (p.Arg746His)
c.2251G>A (p.Ala751Thr)
c.2252G>A (p.Arg751His)
gnomAD v4
22g.20425741_20425746dupCA920338356SCARF2c.2232_2237dup (p.Arg746_Gly747insGlyArg)
c.2247_2251dup
c.2247_2252dup (p.Arg751_Gly752insGlyArg)
dbSNP gnomAD v4
22g.20425739_20425740insTCA638940766SCARF2c.2236_2237insA (p.Arg746GlnfsTer28)
c.2250_2251insA (p.Ala751SerfsTer27)
c.2251_2252insA (p.Arg751GlnfsTer28)
dbSNP gnomAD v2
22g.20425740G>ACA513695009SCARF2c.2236C>T (p.Arg746Cys)
c.2250C>T (p.Ala750=)
c.2251C>T (p.Arg751Cys)
22g.20425740G>CCA513695007SCARF2c.2236C>G (p.Arg746Gly)
c.2250C>G (p.Ala750=)
c.2251C>G (p.Arg751Gly)
22g.20425740G=CA2396362730SCARF2c.2236C= (p.Arg746=)
c.2250C= (p.Ala750=)
c.2251C= (p.Arg751=)
22g.20425740G>TCA513695011SCARF2c.2236C>A (p.Arg746Ser)
c.2250C>A (p.Ala750=)
c.2251C>A (p.Arg751Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425741dupCA2573054975SCARF2c.2236dup (p.Arg746ProfsTer28)
c.2250dup (p.Ala751ArgfsTer27)
c.2251dup (p.Arg751ProfsTer28)
ClinVar dbSNP
22g.20425745_20425757delCA2577652139SCARF2c.2224_2236del (p.Arg742AlafsTer?)
c.2239_2250del
c.2239_2251del (p.Arg747AlafsTer?)
22g.20425741G>ACA2655397160SCARF2c.2235C>T (p.Gly745=)
c.2249C>T (p.Ala750Val)
c.2250C>T (p.Gly750=)
gnomAD v4
22g.20425741G>CCA322182260SCARF2c.2235C>G (p.Gly745=)
c.2249C>G (p.Ala750Gly)
c.2250C>G (p.Gly750=)
dbSNP
22g.20425741G=CA2396362731SCARF2c.2235C= (p.Gly745=)
c.2249C= (p.Ala750=)
c.2250C= (p.Gly750=)
22g.20425745dupCA16609798SCARF2c.2234dup (p.Arg746ProfsTer28)
c.2248dup
c.2249dup (p.Arg751ProfsTer28)
ClinVar dbSNP
22g.20425743C>ACA513695014SCARF2c.2233G>T (p.Gly745Cys)
c.2248-1G>T (n.2248-1G>T)
c.2248G>T (p.Gly750Cys)
22g.20425743C>GCA513695017SCARF2c.2233G>C (p.Gly745Arg)
c.2248-1G>C (n.2248-1G>C)
c.2248G>C (p.Gly750Arg)
22g.20425743C>TCA513695019SCARF2c.2233G>A (p.Gly745Ser)
c.2248-1G>A (n.2248-1G>A)
c.2248G>A (p.Gly750Ser)
22g.20425744C=CA10112196SCARF2c.2232G= (p.Arg744=)
c.2247G= (p.Arg749=)
22g.20425744C>GCA322182265SCARF2c.2232G>C (p.Arg744=)
c.2247G>C (p.Arg749=)
dbSNP
22g.20425745C>ACA410738968SCARF2c.2231G>T (p.Arg744Leu)
c.2246G>T (p.Arg749Leu)
22g.20425745C=CA2396362736SCARF2c.2231G= (p.Arg744=)
c.2246G= (p.Arg749=)
22g.20425745C>GCA410738972SCARF2c.2231G>C (p.Arg744Pro)
c.2246G>C (p.Arg749Pro)
22g.20425745C>TCA410738970SCARF2c.2231G>A (p.Arg744Gln)
c.2246G>A (p.Arg749Gln)
dbSNP gnomAD v3 gnomAD v4
22g.20425745_20425746insTCA322182271SCARF2c.2230_2231insA (p.Arg744GlnfsTer30)
c.2245_2246insA (p.Arg749GlnfsTer29)
c.2245_2246insA (p.Arg749GlnfsTer30)
dbSNP gnomAD v2
22g.20425746G>ACA410738974SCARF2c.2230C>T (p.Arg744Trp)
c.2245C>T (p.Arg749Trp)
gnomAD v4
22g.20425746G>CCA410738977SCARF2c.2230C>G (p.Arg744Gly)
c.2245C>G (p.Arg749Gly)
22g.20425746G>TCA513695027SCARF2c.2230C>A (p.Arg744=)
c.2245C>A (p.Arg749=)
gnomAD v4
22g.20425747delCA2577652140SCARF2c.2229del (p.Arg744GlyfsTer?)
c.2244del (p.Arg749GlyfsTer?)
22g.20425747C>ACA513695033SCARF2c.2229G>T (p.Ala743=)
c.2244G>T (p.Ala748=)
gnomAD v4
22g.20425747C>GCA513695031SCARF2c.2229G>C (p.Ala743=)
c.2244G>C (p.Ala748=)
gnomAD v4
22g.20425747C>TCA513695029SCARF2c.2229G>A (p.Ala743=)
c.2244G>A (p.Ala748=)
gnomAD v4
22g.20425748G>ACA410738980SCARF2c.2228C>T (p.Ala743Val)
c.2243C>T (p.Ala748Val)
dbSNP gnomAD v4
22g.20425748G>CCA410738982SCARF2c.2228C>G (p.Ala743Gly)
c.2243C>G (p.Ala748Gly)
22g.20425748G=CA2396362739SCARF2c.2228C= (p.Ala743=)
c.2243C= (p.Ala748=)
22g.20425748G>TCA410738984SCARF2c.2228C>A (p.Ala743Glu)
c.2243C>A (p.Ala748Glu)
dbSNP gnomAD v4
22g.20425749C>ACA410738986SCARF2c.2227G>T (p.Ala743Ser)
c.2242G>T (p.Ala748Ser)
22g.20425749C=CA2396362742SCARF2c.2227G= (p.Ala743=)
c.2242G= (p.Ala748=)
22g.20425749C>GCA410738987SCARF2c.2227G>C (p.Ala743Pro)
c.2242G>C (p.Ala748Pro)
dbSNP
22g.20425749C>TCA410738988SCARF2c.2227G>A (p.Ala743Thr)
c.2242G>A (p.Ala748Thr)
22g.20425750_20425751delCA1139532863SCARF2c.2226_2227del (p.Arg744GlyfsTer?)
c.2241_2242del (p.Arg749GlyfsTer28)
c.2241_2242del (p.Arg749GlyfsTer?)
22g.20425750T>ACA513695039SCARF2c.2226A>T (p.Arg742=)
c.2241A>T (p.Arg747=)
22g.20425750T>CCA513695043SCARF2c.2226A>G (p.Arg742=)
c.2241A>G (p.Arg747=)
22g.20425750T>GCA513695041SCARF2c.2226A>C (p.Arg742=)
c.2241A>C (p.Arg747=)
22g.20425751C>ACA410738989SCARF2c.2225G>T (p.Arg742Leu)
c.2240G>T (p.Arg747Leu)
dbSNP
22g.20425751C=CA2396362744SCARF2c.2225G= (p.Arg742=)
c.2240G= (p.Arg747=)
22g.20425751C>GCA410738991SCARF2c.2225G>C (p.Arg742Pro)
c.2240G>C (p.Arg747Pro)
22g.20425751C>TCA410738993SCARF2c.2225G>A (p.Arg742Gln)
c.2240G>A (p.Arg747Gln)
dbSNP gnomAD v4
22g.20425751_20425778delinsCGGGCCCTGGGCGGCGAGGGCGCAGCGACA2396362743SCARF2c.2198_2225delinsTCGCTGCGCCCTCGCCGCCCAGGGCCCG (p.Leu733=)
c.2213_2240delinsTCGCTGCGCCCTCGCCGCCCAGGGCCCG (p.Leu738=)
22g.20425752G>ACA410738997SCARF2c.2224C>T (p.Arg742Ter)
c.2239C>T (p.Arg747Ter)
22g.20425752G>CCA410738999SCARF2c.2224C>G (p.Arg742Gly)
c.2239C>G (p.Arg747Gly)
22g.20425752G>TCA513695044SCARF2c.2224C>A (p.Arg742=)
c.2239C>A (p.Arg747=)
22g.20425756_20425782delCA751517168SCARF2c.2198_2224del (p.Leu733_Ala741del)
c.2213_2239del (p.Leu738_Ala746del)
dbSNP gnomAD v3 gnomAD v4
22g.20425753G>ACA513695046SCARF2c.2223C>T (p.Ala741=)
c.2238C>T (p.Ala746=)
gnomAD v4
22g.20425753G>CCA513695051SCARF2c.2223C>G (p.Ala741=)
c.2238C>G (p.Ala746=)
gnomAD v4
22g.20425753G>TCA513695047SCARF2c.2223C>A (p.Ala741=)
c.2238C>A (p.Ala746=)
22g.20425754G>ACA410739002SCARF2c.2222C>T (p.Ala741Val)
c.2237C>T (p.Ala746Val)
gnomAD v4
22g.20425754G>CCA410739006SCARF2c.2222C>G (p.Ala741Gly)
c.2237C>G (p.Ala746Gly)
22g.20425754G>TCA410739004SCARF2c.2222C>A (p.Ala741Asp)
c.2237C>A (p.Ala746Asp)
22g.20425755C>ACA410739010SCARF2c.2221G>T (p.Ala741Ser)
c.2236G>T (p.Ala746Ser)
gnomAD v4
22g.20425755C>GCA410739011SCARF2c.2221G>C (p.Ala741Pro)
c.2236G>C (p.Ala746Pro)
22g.20425755C>TCA410739012SCARF2c.2221G>A (p.Ala741Thr)
c.2236G>A (p.Ala746Thr)
22g.20425756C>ACA410739013SCARF2c.2220G>T (p.Arg740Ser)
c.2235G>T (p.Arg745Ser)
22g.20425756C>GCA410739014SCARF2c.2220G>C (p.Arg740Ser)
c.2235G>C (p.Arg745Ser)
22g.20425756C>TCA513695056SCARF2c.2220G>A (p.Arg740=)
c.2235G>A (p.Arg745=)
gnomAD v4
22g.20425757C>ACA410739015SCARF2c.2219G>T (p.Arg740Met)
c.2234G>T (p.Arg745Met)
gnomAD v4
22g.20425757C=CA2396362747SCARF2c.2219G= (p.Arg740=)
c.2234G= (p.Arg745=)
22g.20425757C>GCA410739016SCARF2c.2219G>C (p.Arg740Thr)
c.2234G>C (p.Arg745Thr)
22g.20425757C>TCA410739018SCARF2c.2219G>A (p.Arg740Lys)
c.2234G>A (p.Arg745Lys)
dbSNP gnomAD v4
22g.20425758T>ACA410739019SCARF2c.2218A>T (p.Arg740Trp)
c.2233A>T (p.Arg745Trp)
22g.20425758T>CCA410739021SCARF2c.2218A>G (p.Arg740Gly)
c.2233A>G (p.Arg745Gly)
22g.20425758T>GCA513695060SCARF2c.2218A>C (p.Arg740=)
c.2233A>C (p.Arg745=)
dbSNP gnomAD v4
22g.20425758T=CA2396362748SCARF2c.2218A= (p.Arg740=)
c.2233A= (p.Arg745=)
22g.20425759G>ACA513695065SCARF2c.2217C>T (p.Pro739=)
c.2232C>T (p.Pro744=)
22g.20425759G>CCA513695066SCARF2c.2217C>G (p.Pro739=)
c.2232C>G (p.Pro744=)
22g.20425759G>TCA513695067SCARF2c.2217C>A (p.Pro739=)
c.2232C>A (p.Pro744=)
gnomAD v4
22g.20425760G>ACA410739025SCARF2c.2216C>T (p.Pro739Leu)
c.2231C>T (p.Pro744Leu)
22g.20425760G>CCA410739028SCARF2c.2216C>G (p.Pro739Arg)
c.2231C>G (p.Pro744Arg)
22g.20425760G>TCA410739026SCARF2c.2216C>A (p.Pro739His)
c.2231C>A (p.Pro744His)
gnomAD v4
22g.20425761G>ACA410739031SCARF2c.2215C>T (p.Pro739Ser)
c.2230C>T (p.Pro744Ser)
22g.20425761G>CCA410739035SCARF2c.2215C>G (p.Pro739Ala)
c.2230C>G (p.Pro744Ala)
22g.20425761G>TCA410739033SCARF2c.2215C>A (p.Pro739Thr)
c.2230C>A (p.Pro744Thr)
gnomAD v4
22g.20425767_20425817delCA2655397161SCARF2c.2165_2215del (p.Arg722_Pro738del)
c.2180_2230del (p.Arg727_Pro743del)
gnomAD v4
22g.20425762C>ACA513695071SCARF2c.2214G>T (p.Pro738=)
c.2229G>T (p.Pro743=)
dbSNP gnomAD v4
22g.20425762C=CA2396362750SCARF2c.2214G= (p.Pro738=)
c.2229G= (p.Pro743=)
22g.20425762C>GCA513695075SCARF2c.2214G>C (p.Pro738=)
c.2229G>C (p.Pro743=)
22g.20425762C>TCA513695073SCARF2c.2214G>A (p.Pro738=)
c.2229G>A (p.Pro743=)
gnomAD v4
22g.20425763G>ACA410739038SCARF2c.2213C>T (p.Pro738Leu)
c.2228C>T (p.Pro743Leu)
gnomAD v4
22g.20425763G>CCA410739039SCARF2c.2213C>G (p.Pro738Arg)
c.2228C>G (p.Pro743Arg)
22g.20425763G>TCA410739041SCARF2c.2213C>A (p.Pro738Gln)
c.2228C>A (p.Pro743Gln)
gnomAD v4
22g.20425764G>ACA410739044SCARF2c.2212C>T (p.Pro738Ser)
c.2227C>T (p.Pro743Ser)
gnomAD v4
22g.20425764G>CCA410739047SCARF2c.2212C>G (p.Pro738Ala)
c.2227C>G (p.Pro743Ala)
22g.20425764G>TCA410739049SCARF2c.2212C>A (p.Pro738Thr)
c.2227C>A (p.Pro743Thr)
gnomAD v4
22g.20425772_20425782delCA2655397162SCARF2c.2202_2212del (p.Pro736GlnfsTer?)
c.2217_2227del (p.Pro741GlnfsTer?)
gnomAD v4
22g.20425765C>ACA513695077SCARF2c.2211G>T (p.Ser737=)
c.2226G>T (p.Ser742=)
gnomAD v4
22g.20425765C>GCA513695079SCARF2c.2211G>C (p.Ser737=)
c.2226G>C (p.Ser742=)
22g.20425765C>TCA513695078SCARF2c.2211G>A (p.Ser737=)
c.2226G>A (p.Ser742=)
gnomAD v4
22g.20425766G>ACA410739052SCARF2c.2210C>T (p.Ser737Leu)
c.2225C>T (p.Ser742Leu)
gnomAD v4
22g.20425766G>CCA410739054SCARF2c.2210C>G (p.Ser737Trp)
c.2225C>G (p.Ser742Trp)
22g.20425766G>TCA410739056SCARF2c.2210C>A (p.Ser737Ter)
c.2225C>A (p.Ser742Ter)
gnomAD v4
22g.20425767A>CCA410739059SCARF2c.2209T>G (p.Ser737Ala)
c.2224T>G (p.Ser742Ala)
gnomAD v4
22g.20425767A>GCA410739061SCARF2c.2209T>C (p.Ser737Pro)
c.2224T>C (p.Ser742Pro)
gnomAD v4
22g.20425767A>TCA410739063SCARF2c.2209T>A (p.Ser737Thr)
c.2224T>A (p.Ser742Thr)
22g.20425768G>ACA513695090SCARF2c.2208C>T (p.Pro736=)
c.2223C>T (p.Pro741=)
gnomAD v4
22g.20425768G>CCA513695089SCARF2c.2208C>G (p.Pro736=)
c.2223C>G (p.Pro741=)
22g.20425768G>TCA513695092SCARF2c.2208C>A (p.Pro736=)
c.2223C>A (p.Pro741=)
gnomAD v4
22g.20425769G>ACA410739066SCARF2c.2207C>T (p.Pro736Leu)
c.2222C>T (p.Pro741Leu)
gnomAD v4
22g.20425769G>CCA410739070SCARF2c.2207C>G (p.Pro736Arg)
c.2222C>G (p.Pro741Arg)
22g.20425769G>TCA410739068SCARF2c.2207C>A (p.Pro736His)
c.2222C>A (p.Pro741His)
gnomAD v4
22g.20425770G>ACA410739072SCARF2c.2206C>T (p.Pro736Ser)
c.2221C>T (p.Pro741Ser)
gnomAD v4
22g.20425770G>CCA410739074SCARF2c.2206C>G (p.Pro736Ala)
c.2221C>G (p.Pro741Ala)
22g.20425770G>TCA410739076SCARF2c.2206C>A (p.Pro736Thr)
c.2221C>A (p.Pro741Thr)
gnomAD v4
22g.20425771C>ACA513695097SCARF2c.2205G>T (p.Ala735=)
c.2220G>T (p.Ala740=)
gnomAD v4
22g.20425771C>GCA513695098SCARF2c.2205G>C (p.Ala735=)
c.2220G>C (p.Ala740=)
22g.20425771C>TCA513695099SCARF2c.2205G>A (p.Ala735=)
c.2220G>A (p.Ala740=)
gnomAD v4
22g.20425772G>ACA10112197SCARF2c.2204C>T (p.Ala735Val)
c.2219C>T (p.Ala740Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425772G>CCA410739080SCARF2c.2204C>G (p.Ala735Gly)
c.2219C>G (p.Ala740Gly)
22g.20425772G=CA2396362753SCARF2c.2204C= (p.Ala735=)
c.2219C= (p.Ala740=)
22g.20425772G>TCA410739082SCARF2c.2204C>A (p.Ala735Glu)
c.2219C>A (p.Ala740Glu)
gnomAD v4
22g.20425773C>ACA410739085SCARF2c.2203G>T (p.Ala735Ser)
c.2218G>T (p.Ala740Ser)
gnomAD v4
22g.20425773C>GCA410739087SCARF2c.2203G>C (p.Ala735Pro)
c.2218G>C (p.Ala740Pro)
22g.20425773C>TCA410739089SCARF2c.2203G>A (p.Ala735Thr)
c.2218G>A (p.Ala740Thr)
22g.20425774A=CA2396362755SCARF2c.2202T= (p.Ala734=)
c.2217T= (p.Ala739=)
22g.20425774A>CCA513695102SCARF2c.2202T>G (p.Ala734=)
c.2217T>G (p.Ala739=)
22g.20425774A>GCA513695104SCARF2c.2202T>C (p.Ala734=)
c.2217T>C (p.Ala739=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425774A>TCA513695105SCARF2c.2202T>A (p.Ala734=)
c.2217T>A (p.Ala739=)
22g.20425775G>ACA410739096SCARF2c.2201C>T (p.Ala734Val)
c.2216C>T (p.Ala739Val)
gnomAD v4
22g.20425775G>CCA410739094SCARF2c.2201C>G (p.Ala734Gly)
c.2216C>G (p.Ala739Gly)
22g.20425775G>TCA410739092SCARF2c.2201C>A (p.Ala734Asp)
c.2216C>A (p.Ala739Asp)
gnomAD v4
22g.20425776C>ACA410739099SCARF2c.2200G>T (p.Ala734Ser)
c.2215G>T (p.Ala739Ser)
gnomAD v4
22g.20425776C>GCA410739101SCARF2c.2200G>C (p.Ala734Pro)
c.2215G>C (p.Ala739Pro)
22g.20425776C>TCA410739103SCARF2c.2200G>A (p.Ala734Thr)
c.2215G>A (p.Ala739Thr)
gnomAD v4
22g.20425777G>ACA513695113SCARF2c.2199C>T (p.Leu733=)
c.2214C>T (p.Leu738=)
gnomAD v4
22g.20425777G>CCA513695111SCARF2c.2199C>G (p.Leu733=)
c.2214C>G (p.Leu738=)
22g.20425777G>TCA513695110SCARF2c.2199C>A (p.Leu733=)
c.2214C>A (p.Leu738=)
gnomAD v4
22g.20425778A>CCA410739106SCARF2c.2198T>G (p.Leu733Arg)
c.2213T>G (p.Leu738Arg)
22g.20425778A>GCA410739108SCARF2c.2198T>C (p.Leu733Pro)
c.2213T>C (p.Leu738Pro)
gnomAD v4
22g.20425778A>TCA410739110SCARF2c.2198T>A (p.Leu733His)
c.2213T>A (p.Leu738His)
22g.20425779G>ACA410739112SCARF2c.2197C>T (p.Leu733Phe)
c.2212C>T (p.Leu738Phe)
dbSNP gnomAD v4
22g.20425779G>CCA410739115SCARF2c.2197C>G (p.Leu733Val)
c.2212C>G (p.Leu738Val)
22g.20425779G=CA2396362757SCARF2c.2197C= (p.Leu733=)
c.2212C= (p.Leu738=)
22g.20425779G>TCA410739116SCARF2c.2197C>A (p.Leu733Ile)
c.2212C>A (p.Leu738Ile)
dbSNP gnomAD v2 gnomAD v4
22g.20425780G>ACA513695118SCARF2c.2196C>T (p.Ala732=)
c.2211C>T (p.Ala737=)
dbSNP gnomAD v2
22g.20425780G>CCA513695119SCARF2c.2196C>G (p.Ala732=)
c.2211C>G (p.Ala737=)
22g.20425780G=CA2396362759SCARF2c.2196C= (p.Ala732=)
c.2211C= (p.Ala737=)
22g.20425780G>TCA513695120SCARF2c.2196C>A (p.Ala732=)
c.2211C>A (p.Ala737=)
gnomAD v4
22g.20425781G>ACA410739119SCARF2c.2195C>T (p.Ala732Val)
c.2210C>T (p.Ala737Val)
gnomAD v4
22g.20425781G>CCA410739121SCARF2c.2195C>G (p.Ala732Gly)
c.2210C>G (p.Ala737Gly)
22g.20425781G=CA2396362761SCARF2c.2195C= (p.Ala732=)
c.2210C= (p.Ala737=)
22g.20425781G>TCA410739122SCARF2c.2195C>A (p.Ala732Asp)
c.2210C>A (p.Ala737Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425782C>ACA410739129SCARF2c.2194G>T (p.Ala732Ser)
c.2209G>T (p.Ala737Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425782C=CA2396362763SCARF2c.2194G= (p.Ala732=)
c.2209G= (p.Ala737=)
22g.20425782C>GCA410739125SCARF2c.2194G>C (p.Ala732Pro)
c.2209G>C (p.Ala737Pro)
dbSNP gnomAD v3 gnomAD v4
22g.20425782C>TCA10112198SCARF2c.2194G>A (p.Ala732Thr)
c.2209G>A (p.Ala737Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425783T>ACA513695127SCARF2c.2193A>T (p.Thr731=)
c.2208A>T (p.Thr736=)
22g.20425783T>CCA513695131SCARF2c.2193A>G (p.Thr731=)
c.2208A>G (p.Thr736=)
gnomAD v4
22g.20425783T>GCA513695129SCARF2c.2193A>C (p.Thr731=)
c.2208A>C (p.Thr736=)
gnomAD v4
22g.20425784G>ACA410739132SCARF2c.2192C>T (p.Thr731Ile)
c.2207C>T (p.Thr736Ile)
gnomAD v4
22g.20425784G>CCA10112199SCARF2c.2192C>G (p.Thr731Arg)
c.2207C>G (p.Thr736Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425784G=CA2396362766SCARF2c.2192C= (p.Thr731=)
c.2207C= (p.Thr736=)
22g.20425784G>TCA410739136SCARF2c.2192C>A (p.Thr731Lys)
c.2207C>A (p.Thr736Lys)
gnomAD v4
22g.20425785T>ACA410739139SCARF2c.2191A>T (p.Thr731Ser)
c.2206A>T (p.Thr736Ser)
22g.20425785T>CCA410739141SCARF2c.2191A>G (p.Thr731Ala)
c.2206A>G (p.Thr736Ala)
gnomAD v4
22g.20425785T>GCA410739144SCARF2c.2191A>C (p.Thr731Pro)
c.2206A>C (p.Thr736Pro)
dbSNP gnomAD v2 gnomAD v4
22g.20425785T=CA2396362768SCARF2c.2191A= (p.Thr731=)
c.2206A= (p.Thr736=)
22g.20425786C>ACA513695133SCARF2c.2190G>T (p.Ala730=)
c.2205G>T (p.Ala735=)
22g.20425786C=CA2396362770SCARF2c.2190G= (p.Ala730=)
c.2205G= (p.Ala735=)
22g.20425786C>GCA513695137SCARF2c.2190G>C (p.Ala730=)
c.2205G>C (p.Ala735=)
dbSNP
22g.20425786C>TCA513695135SCARF2c.2190G>A (p.Ala730=)
c.2205G>A (p.Ala735=)
gnomAD v4
22g.20425787G>ACA410739147SCARF2c.2189C>T (p.Ala730Val)
c.2204C>T (p.Ala735Val)
gnomAD v4
22g.20425787G>CCA410739148SCARF2c.2189C>G (p.Ala730Gly)
c.2204C>G (p.Ala735Gly)
22g.20425787G>TCA410739150SCARF2c.2189C>A (p.Ala730Glu)
c.2204C>A (p.Ala735Glu)
gnomAD v4
22g.20425788C>ACA410739153SCARF2c.2188G>T (p.Ala730Ser)
c.2203G>T (p.Ala735Ser)
22g.20425788C>GCA410739155SCARF2c.2188G>C (p.Ala730Pro)
c.2203G>C (p.Ala735Pro)
22g.20425788C>TCA410739158SCARF2c.2188G>A (p.Ala730Thr)
c.2203G>A (p.Ala735Thr)
gnomAD v4
22g.20425789C>ACA410739162SCARF2c.2187G>T (p.Glu729Asp)
c.2202G>T (p.Glu734Asp)
gnomAD v4
22g.20425789C=CA2396362773SCARF2c.2187G= (p.Glu729=)
c.2202G= (p.Glu734=)
22g.20425789C>GCA410739165SCARF2c.2187G>C (p.Glu729Asp)
c.2202G>C (p.Glu734Asp)
ClinVar dbSNP
22g.20425789C>TCA10112200SCARF2c.2187G>A (p.Glu729=)
c.2202G>A (p.Glu734=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425790T>ACA10112201SCARF2c.2186A>T (p.Glu729Val)
c.2201A>T (p.Glu734Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425790T>CCA410739169SCARF2c.2186A>G (p.Glu729Gly)
c.2201A>G (p.Glu734Gly)
22g.20425790T>GCA410739171SCARF2c.2186A>C (p.Glu729Ala)
c.2201A>C (p.Glu734Ala)
gnomAD v4
22g.20425790T=CA2396362775SCARF2c.2186A= (p.Glu729=)
c.2201A= (p.Glu734=)
22g.20425791C>ACA410739173SCARF2c.2185G>T (p.Glu729Ter)
c.2200G>T (p.Glu734Ter)
22g.20425791C=CA2396362777SCARF2c.2185G= (p.Glu729=)
c.2200G= (p.Glu734=)
22g.20425791C>GCA410739176SCARF2c.2185G>C (p.Glu729Gln)
c.2200G>C (p.Glu734Gln)
22g.20425791C>TCA410739178SCARF2c.2185G>A (p.Glu729Lys)
c.2200G>A (p.Glu734Lys)
dbSNP gnomAD v2
22g.20425792C>ACA410739181SCARF2c.2184G>T (p.Glu728Asp)
c.2199G>T (p.Glu733Asp)
gnomAD v4
22g.20425792C=CA2396362779SCARF2c.2184G= (p.Glu728=)
c.2199G= (p.Glu733=)
22g.20425792C>GCA410739183SCARF2c.2184G>C (p.Glu728Asp)
c.2199G>C (p.Glu733Asp)
22g.20425792C>TCA10112202SCARF2c.2184G>A (p.Glu728=)
c.2199G>A (p.Glu733=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425793T>ACA410739186SCARF2c.2183A>T (p.Glu728Val)
c.2198A>T (p.Glu733Val)
22g.20425793T>CCA410739187SCARF2c.2183A>G (p.Glu728Gly)
c.2198A>G (p.Glu733Gly)
gnomAD v4
22g.20425793T>GCA410739189SCARF2c.2183A>C (p.Glu728Ala)
c.2198A>C (p.Glu733Ala)
dbSNP gnomAD v3 gnomAD v4
22g.20425793T=CA2396362781SCARF2c.2183A= (p.Glu728=)
c.2198A= (p.Glu733=)
22g.20425794C>ACA10112204SCARF2c.2182G>T (p.Glu728Ter)
c.2197G>T (p.Glu733Ter)
dbSNP ExAC gnomAD v4
22g.20425794C=CA2396362784SCARF2c.2182G= (p.Glu728=)
c.2197G= (p.Glu733=)
22g.20425794C>GCA410739193SCARF2c.2182G>C (p.Glu728Gln)
c.2197G>C (p.Glu733Gln)
22g.20425794C>TCA10112203SCARF2c.2182G>A (p.Glu728Lys)
c.2197G>A (p.Glu733Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425795G>ACA513694267SCARF2c.2181C>T (p.Pro727=)
c.2196C>T (p.Pro732=)
gnomAD v4
22g.20425795G>CCA513694268SCARF2c.2181C>G (p.Pro727=)
c.2196C>G (p.Pro732=)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.20425795G=CA2396362786SCARF2c.2181C= (p.Pro727=)
c.2196C= (p.Pro732=)
22g.20425795G>TCA513694266SCARF2c.2181C>A (p.Pro727=)
c.2196C>A (p.Pro732=)
dbSNP gnomAD v2 gnomAD v4
22g.20425796G>ACA10112205SCARF2c.2180C>T (p.Pro727Leu)
c.2195C>T (p.Pro732Leu)
dbSNP ExAC gnomAD v4
22g.20425796G>CCA410739198SCARF2c.2180C>G (p.Pro727Arg)
c.2195C>G (p.Pro732Arg)
22g.20425796G=CA2396362788SCARF2c.2180C= (p.Pro727=)
c.2195C= (p.Pro732=)
22g.20425796G>TCA410739201SCARF2c.2180C>A (p.Pro727His)
c.2195C>A (p.Pro732His)
gnomAD v4
22g.20425797G>ACA410739204SCARF2c.2179C>T (p.Pro727Ser)
c.2194C>T (p.Pro732Ser)
gnomAD v4
22g.20425797G>CCA410739205SCARF2c.2179C>G (p.Pro727Ala)
c.2194C>G (p.Pro732Ala)
gnomAD v4
22g.20425797G=CA2396362790SCARF2c.2179C= (p.Pro727=)
c.2194C= (p.Pro732=)
22g.20425797G>TCA410739207SCARF2c.2179C>A (p.Pro727Thr)
c.2194C>A (p.Pro732Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425798C>ACA513694270SCARF2c.2178G>T (p.Leu726=)
c.2193G>T (p.Leu731=)
dbSNP gnomAD v2 gnomAD v4
22g.20425798C=CA2396362792SCARF2c.2178G= (p.Leu726=)
c.2193G= (p.Leu731=)
22g.20425798C>GCA513694269SCARF2c.2178G>C (p.Leu726=)
c.2193G>C (p.Leu731=)
22g.20425798C>TCA513694271SCARF2c.2178G>A (p.Leu726=)
c.2193G>A (p.Leu731=)
dbSNP gnomAD v2 gnomAD v4
22g.20425799A=CA2396362794SCARF2c.2177T= (p.Leu726=)
c.2192T= (p.Leu731=)
22g.20425799A>CCA410739210SCARF2c.2177T>G (p.Leu726Arg)
c.2192T>G (p.Leu731Arg)
22g.20425799A>GCA410739212SCARF2c.2177T>C (p.Leu726Pro)
c.2192T>C (p.Leu731Pro)
gnomAD v4
22g.20425799A>TCA10112206SCARF2c.2177T>A (p.Leu726Gln)
c.2192T>A (p.Leu731Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425800G>ACA513694272SCARF2c.2176C>T (p.Leu726=)
c.2191C>T (p.Leu731=)
gnomAD v2 gnomAD v4
22g.20425800G>CCA410739217SCARF2c.2176C>G (p.Leu726Val)
c.2191C>G (p.Leu731Val)
22g.20425800G=CA2396362796SCARF2c.2176C= (p.Leu726=)
c.2191C= (p.Leu731=)
22g.20425800G>TCA10112207SCARF2c.2176C>A (p.Leu726Met)
c.2191C>A (p.Leu731Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425801C>ACA10112208SCARF2c.2175G>T (p.Gly725=)
c.2190G>T (p.Gly730=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425801C=CA2396362798SCARF2c.2175G= (p.Gly725=)
c.2190G= (p.Gly730=)
22g.20425801C>GCA513694274SCARF2c.2175G>C (p.Gly725=)
c.2190G>C (p.Gly730=)
22g.20425801C>TCA513694273SCARF2c.2175G>A (p.Gly725=)
c.2190G>A (p.Gly730=)
gnomAD v4
22g.20425803delCA322182304SCARF2c.2175del (p.Leu726CysfsTer?)
c.2190del (p.Leu731CysfsTer?)
22g.20425802C>ACA410739229SCARF2c.2174G>T (p.Gly725Val)
c.2189G>T (p.Gly730Val)
gnomAD v4
22g.20425802C=CA2396362800SCARF2c.2174G= (p.Gly725=)
c.2189G= (p.Gly730=)
22g.20425802C>GCA410739228SCARF2c.2174G>C (p.Gly725Ala)
c.2189G>C (p.Gly730Ala)
22g.20425802C>TCA410739226SCARF2c.2174G>A (p.Gly725Glu)
c.2189G>A (p.Gly730Glu)
dbSNP gnomAD v2 gnomAD v4
22g.20425803C>ACA10112210SCARF2c.2173G>T (p.Gly725Trp)
c.2188G>T (p.Gly730Trp)
dbSNP ExAC gnomAD v4
22g.20425803C=CA2396362803SCARF2c.2173G= (p.Gly725=)
c.2188G= (p.Gly730=)
22g.20425803C>GCA410739233SCARF2c.2173G>C (p.Gly725Arg)
c.2188G>C (p.Gly730Arg)
22g.20425803C>TCA10112209SCARF2c.2173G>A (p.Gly725Arg)
c.2188G>A (p.Gly730Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425803_20425805delinsCGGCA2396362802SCARF2c.2171_2173delinsCCG (p.Pro724=)
c.2186_2188delinsCCG (p.Pro729=)
22g.20425804G>ACA751517270SCARF2c.2172C>T (p.Pro724=)
c.2187C>T (p.Pro729=)
dbSNP gnomAD v4
22g.20425804G>CCA322182315SCARF2c.2172C>G (p.Pro724=)
c.2187C>G (p.Pro729=)
dbSNP gnomAD v4
22g.20425804G=CA10112211SCARF2c.2172C= (p.Pro724=)
c.2187C= (p.Pro729=)
22g.20425804G>TCA10112212SCARF2c.2172C>A (p.Pro724=)
c.2187C>A (p.Pro729=)
dbSNP gnomAD v4
22g.20425809dupCA2655397163SCARF2c.2172dup (p.Gly725ArgfsTer?)
c.2187dup (p.Gly730ArgfsTer?)
gnomAD v4
22g.20425809delCA322182318SCARF2c.2172del (p.Leu726CysfsTer?)
c.2187del (p.Leu731CysfsTer?)
dbSNP gnomAD v4
22g.20425808_20425809delCA322182313SCARF2c.2171_2172del (p.Pro724ArgfsTer?)
c.2186_2187del (p.Pro729ArgfsTer?)
dbSNP
22g.20425805G>ACA10112213SCARF2c.2171C>T (p.Pro724Leu)
c.2186C>T (p.Pro729Leu)
dbSNP ExAC gnomAD v4
22g.20425805G>CCA513694276SCARF2c.2171C>G (p.Pro724Arg)
c.2186C>G (p.Pro729Arg)
gnomAD v4
22g.20425805G=CA2396362806SCARF2c.2171C= (p.Pro724=)
c.2186C= (p.Pro729=)
22g.20425805G>TCA513694275SCARF2c.2171C>A (p.Pro724His)
c.2186C>A (p.Pro729His)
gnomAD v4
22g.20425806G>ACA10112214SCARF2c.2170C>T (p.Pro724Ser)
c.2185C>T (p.Pro729Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425806G>CCA513694277SCARF2c.2170C>G (p.Pro724Ala)
c.2185C>G (p.Pro729Ala)
22g.20425806G=CA2396362808SCARF2c.2170C= (p.Pro724=)
c.2185C= (p.Pro729=)
22g.20425806G>TCA513694278SCARF2c.2170C>A (p.Pro724Thr)
c.2185C>A (p.Pro729Thr)
gnomAD v4
22g.20425807G>ACA513694281SCARF2c.2169C>T (p.Pro723=)
c.2184C>T (p.Pro728=)
dbSNP gnomAD v2 gnomAD v4
22g.20425807G>CCA513694280SCARF2c.2169C>G (p.Pro723=)
c.2184C>G (p.Pro728=)
22g.20425807G=CA2396362810SCARF2c.2169C= (p.Pro723=)
c.2184C= (p.Pro728=)
22g.20425807G>TCA513694279SCARF2c.2169C>A (p.Pro723=)
c.2184C>A (p.Pro728=)
gnomAD v4
22g.20425808G>ACA513694283SCARF2c.2168C>T (p.Pro723Leu)
c.2183C>T (p.Pro728Leu)
gnomAD v4
22g.20425808G>CCA513694282SCARF2c.2168C>G (p.Pro723Arg)
c.2183C>G (p.Pro728Arg)
22g.20425808G=CA2396362812SCARF2c.2168C= (p.Pro723=)
c.2183C= (p.Pro728=)
22g.20425808G>TCA513694284SCARF2c.2168C>A (p.Pro723His)
c.2183C>A (p.Pro728His)
dbSNP gnomAD v2 gnomAD v4
22g.20425809G>ACA513694287SCARF2c.2167C>T (p.Pro723Ser)
c.2182C>T (p.Pro728Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425809G>CCA513694285SCARF2c.2167C>G (p.Pro723Ala)
c.2182C>G (p.Pro728Ala)
gnomAD v4
22g.20425809G=CA2396362813SCARF2c.2167C= (p.Pro723=)
c.2182C= (p.Pro728=)
22g.20425809G>TCA513694286SCARF2c.2167C>A (p.Pro723Thr)
c.2182C>A (p.Pro728Thr)
gnomAD v3 gnomAD v4
22g.20425810C>ACA2580673562SCARF2c.2166G>T (p.Arg722=)
c.2181G>T (p.Arg727=)
gnomAD v4
22g.20425810C=CA10112215SCARF2c.2166G= (p.Arg722=)
c.2181G= (p.Arg727=)
22g.20425810C>GCA322182340SCARF2c.2166G>C (p.Arg722=)
c.2181G>C (p.Arg727=)
dbSNP gnomAD v4
22g.20425810C>TCA2580673561SCARF2c.2166G>A (p.Arg722=)
c.2181G>A (p.Arg727=)
gnomAD v4
22g.20425810_20425811insTCCA322182327SCARF2c.2166_2167insAG (p.Pro723SerfsTer?)
c.2181_2182insAG (p.Pro728SerfsTer?)
dbSNP
22g.20425811dupCA322182333SCARF2c.2166dup (p.Pro723AlafsTer?)
c.2181dup (p.Pro728AlafsTer?)
dbSNP

Number of alleles fetched