Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.20425629G>ACA410738519SCARF2c.2347C>T (p.Arg783Cys)
c.2359C>T (p.Arg787Cys)
c.2362C>T (p.Arg788Cys)
dbSNP gnomAD v3 gnomAD v4
22g.20425629G>CCA410738520SCARF2c.2347C>G (p.Arg783Gly)
c.2359C>G (p.Arg787Gly)
c.2362C>G (p.Arg788Gly)
22g.20425629G=CA2396362563SCARF2c.2347C= (p.Arg783=)
c.2359C= (p.Arg787=)
c.2362C= (p.Arg788=)
22g.20425629G>TCA10112185SCARF2c.2347C>A (p.Arg783Ser)
c.2359C>A (p.Arg787Ser)
c.2362C>A (p.Arg788Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425630G>ACA513694698SCARF2c.2346C>T (p.Gly782=)
c.2358C>T (p.Gly786=)
c.2361C>T (p.Gly787=)
gnomAD v4
22g.20425630G>CCA513694697SCARF2c.2346C>G (p.Gly782=)
c.2358C>G (p.Gly786=)
c.2361C>G (p.Gly787=)
22g.20425630G>TCA513694696SCARF2c.2346C>A (p.Gly782=)
c.2358C>A (p.Gly786=)
c.2361C>A (p.Gly787=)
gnomAD v4
22g.20425630_20425632delCA2655397136SCARF2c.2344_2346del (p.Gly782del)
c.2356_2358del (p.Gly786del)
c.2359_2361del (p.Gly787del)
gnomAD v4
22g.20425631C>ACA410738521SCARF2c.2345G>T (p.Gly782Val)
c.2357G>T (p.Gly786Val)
c.2360G>T (p.Gly787Val)
dbSNP gnomAD v2 gnomAD v4
22g.20425631C=CA2396362566SCARF2c.2345G= (p.Gly782=)
c.2357G= (p.Gly786=)
c.2360G= (p.Gly787=)
22g.20425631C>GCA410738522SCARF2c.2345G>C (p.Gly782Ala)
c.2357G>C (p.Gly786Ala)
c.2360G>C (p.Gly787Ala)
22g.20425631C>TCA410738523SCARF2c.2345G>A (p.Gly782Asp)
c.2357G>A (p.Gly786Asp)
c.2360G>A (p.Gly787Asp)
dbSNP gnomAD v2 gnomAD v4
22g.20425633delCA2655397137SCARF2c.2345del (p.Gly782AlafsTer?)
c.2357del (p.Gly786AlafsTer?)
c.2360del (p.Gly787AlafsTer?)
gnomAD v4
22g.20425632C>ACA410738524SCARF2c.2344G>T (p.Gly782Cys)
c.2356G>T (p.Gly786Cys)
c.2359G>T (p.Gly787Cys)
gnomAD v4
22g.20425632C=CA2396362568SCARF2c.2344G= (p.Gly782=)
c.2356G= (p.Gly786=)
c.2359G= (p.Gly787=)
22g.20425632C>GCA410738525SCARF2c.2344G>C (p.Gly782Arg)
c.2356G>C (p.Gly786Arg)
c.2359G>C (p.Gly787Arg)
22g.20425632C>TCA322182150SCARF2c.2344G>A (p.Gly782Ser)
c.2356G>A (p.Gly786Ser)
c.2359G>A (p.Gly787Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425633C>ACA513694709SCARF2c.2343G>T (p.Leu781=)
c.2355G>T (p.Leu785=)
c.2358G>T (p.Leu786=)
dbSNP gnomAD v2 gnomAD v4
22g.20425633C=CA2396362570SCARF2c.2343G= (p.Leu781=)
c.2355G= (p.Leu785=)
c.2358G= (p.Leu786=)
22g.20425633C>GCA513694707SCARF2c.2343G>C (p.Leu781=)
c.2355G>C (p.Leu785=)
c.2358G>C (p.Leu786=)
gnomAD v4
22g.20425633C>TCA513694706SCARF2c.2343G>A (p.Leu781=)
c.2355G>A (p.Leu785=)
c.2358G>A (p.Leu786=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425634A>CCA410738526SCARF2c.2342T>G (p.Leu781Arg)
c.2354T>G (p.Leu785Arg)
c.2357T>G (p.Leu786Arg)
gnomAD v4
22g.20425634A>GCA410738528SCARF2c.2342T>C (p.Leu781Pro)
c.2354T>C (p.Leu785Pro)
c.2357T>C (p.Leu786Pro)
gnomAD v4
22g.20425634A>TCA410738527SCARF2c.2342T>A (p.Leu781Gln)
c.2354T>A (p.Leu785Gln)
c.2357T>A (p.Leu786Gln)
gnomAD v4
22g.20425635G>ACA10112186SCARF2c.2341C>T (p.Leu781=)
c.2353C>T (p.Leu785=)
c.2356C>T (p.Leu786=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425635G>CCA410738529SCARF2c.2341C>G (p.Leu781Val)
c.2353C>G (p.Leu785Val)
c.2356C>G (p.Leu786Val)
22g.20425635G=CA2396362573SCARF2c.2341C= (p.Leu781=)
c.2353C= (p.Leu785=)
c.2356C= (p.Leu786=)
22g.20425635G>TCA410738530SCARF2c.2341C>A (p.Leu781Met)
c.2353C>A (p.Leu785Met)
c.2356C>A (p.Leu786Met)
gnomAD v4
22g.20425636G>ACA513694720SCARF2c.2340C>T (p.Ser780=)
c.2352C>T (p.Ser784=)
c.2355C>T (p.Ser785=)
dbSNP gnomAD v2 gnomAD v4
22g.20425636G>CCA410738531SCARF2c.2340C>G (p.Ser780Arg)
c.2352C>G (p.Ser784Arg)
c.2355C>G (p.Ser785Arg)
gnomAD v4
22g.20425636G=CA2396362575SCARF2c.2340C= (p.Ser780=)
c.2352C= (p.Ser784=)
c.2355C= (p.Ser785=)
22g.20425636G>TCA410738532SCARF2c.2340C>A (p.Ser780Arg)
c.2352C>A (p.Ser784Arg)
c.2355C>A (p.Ser785Arg)
dbSNP gnomAD v4
22g.20425637C>ACA410738533SCARF2c.2339G>T (p.Ser780Ile)
c.2351G>T (p.Ser784Ile)
c.2354G>T (p.Ser785Ile)
dbSNP gnomAD v2 gnomAD v4
22g.20425637C=CA2396362577SCARF2c.2339G= (p.Ser780=)
c.2351G= (p.Ser784=)
c.2354G= (p.Ser785=)
22g.20425637C>GCA410738534SCARF2c.2339G>C (p.Ser780Thr)
c.2351G>C (p.Ser784Thr)
c.2354G>C (p.Ser785Thr)
22g.20425637C>TCA410738535SCARF2c.2339G>A (p.Ser780Asn)
c.2351G>A (p.Ser784Asn)
c.2354G>A (p.Ser785Asn)
dbSNP gnomAD v4
22g.20425638T>ACA410738536SCARF2c.2338A>T (p.Ser780Cys)
c.2350A>T (p.Ser784Cys)
c.2353A>T (p.Ser785Cys)
22g.20425638T>CCA410738537SCARF2c.2338A>G (p.Ser780Gly)
c.2350A>G (p.Ser784Gly)
c.2353A>G (p.Ser785Gly)
gnomAD v4
22g.20425638T>GCA410738538SCARF2c.2338A>C (p.Ser780Arg)
c.2350A>C (p.Ser784Arg)
c.2353A>C (p.Ser785Arg)
22g.20425639G>ACA513694740SCARF2c.2337C>T (p.Arg779=)
c.2349C>T (p.Arg783=)
c.2352C>T (p.Arg784=)
gnomAD v4
22g.20425639G>CCA513694734SCARF2c.2337C>G (p.Arg779=)
c.2349C>G (p.Arg783=)
c.2352C>G (p.Arg784=)
gnomAD v4
22g.20425639G>TCA513694737SCARF2c.2337C>A (p.Arg779=)
c.2349C>A (p.Arg783=)
c.2352C>A (p.Arg784=)
gnomAD v4
22g.20425640C>ACA410738541SCARF2c.2336G>T (p.Arg779Leu)
c.2348G>T (p.Arg783Leu)
c.2351G>T (p.Arg784Leu)
gnomAD v4
22g.20425640C=CA2396362579SCARF2c.2336G= (p.Arg779=)
c.2348G= (p.Arg783=)
c.2351G= (p.Arg784=)
22g.20425640C>GCA410738540SCARF2c.2336G>C (p.Arg779Pro)
c.2348G>C (p.Arg783Pro)
c.2351G>C (p.Arg784Pro)
22g.20425640C>TCA410738539SCARF2c.2336G>A (p.Arg779His)
c.2348G>A (p.Arg783His)
c.2351G>A (p.Arg784His)
dbSNP gnomAD v2 gnomAD v4
22g.20425641G>ACA410738544SCARF2c.2335C>T (p.Arg779Cys)
c.2347C>T (p.Arg783Cys)
c.2350C>T (p.Arg784Cys)
gnomAD v4
22g.20425641G>CCA410738542SCARF2c.2335C>G (p.Arg779Gly)
c.2347C>G (p.Arg783Gly)
c.2350C>G (p.Arg784Gly)
gnomAD v4
22g.20425641G>TCA410738543SCARF2c.2335C>A (p.Arg779Ser)
c.2347C>A (p.Arg783Ser)
c.2350C>A (p.Arg784Ser)
gnomAD v4
22g.20425642A>CCA513694761SCARF2c.2334T>G (p.Thr778=)
c.2346T>G (p.Thr782=)
c.2349T>G (p.Thr783=)
22g.20425642A>GCA513694759SCARF2c.2334T>C (p.Thr778=)
c.2346T>C (p.Thr782=)
c.2349T>C (p.Thr783=)
gnomAD v4
22g.20425642A>TCA513694760SCARF2c.2334T>A (p.Thr778=)
c.2346T>A (p.Thr782=)
c.2349T>A (p.Thr783=)
gnomAD v4
22g.20425643G>ACA410738545SCARF2c.2333C>T (p.Thr778Ile)
c.2345C>T (p.Thr782Ile)
c.2348C>T (p.Thr783Ile)
gnomAD v4
22g.20425643G>CCA410738546SCARF2c.2333C>G (p.Thr778Ser)
c.2345C>G (p.Thr782Ser)
c.2348C>G (p.Thr783Ser)
22g.20425643G=CA2396362581SCARF2c.2333C= (p.Thr778=)
c.2345C= (p.Thr782=)
c.2348C= (p.Thr783=)
22g.20425643G>TCA410738547SCARF2c.2333C>A (p.Thr778Asn)
c.2345C>A (p.Thr782Asn)
c.2348C>A (p.Thr783Asn)
dbSNP gnomAD v2 gnomAD v4
22g.20425644T>ACA410738548SCARF2c.2332A>T (p.Thr778Ser)
c.2344A>T (p.Thr782Ser)
c.2347A>T (p.Thr783Ser)
gnomAD v4
22g.20425644T>CCA410738549SCARF2c.2332A>G (p.Thr778Ala)
c.2344A>G (p.Thr782Ala)
c.2347A>G (p.Thr783Ala)
gnomAD v4
22g.20425644T>GCA410738550SCARF2c.2332A>C (p.Thr778Pro)
c.2344A>C (p.Thr782Pro)
c.2347A>C (p.Thr783Pro)
22g.20425645C>ACA410738551SCARF2c.2331G>T (p.Lys777Asn)
c.2343G>T (p.Lys781Asn)
c.2346G>T (p.Lys782Asn)
gnomAD v4
22g.20425645C>GCA410738552SCARF2c.2331G>C (p.Lys777Asn)
c.2343G>C (p.Lys781Asn)
c.2346G>C (p.Lys782Asn)
22g.20425645C>TCA513694766SCARF2c.2331G>A (p.Lys777=)
c.2343G>A (p.Lys781=)
c.2346G>A (p.Lys782=)
gnomAD v4
22g.20425646T>ACA410738553SCARF2c.2330A>T (p.Lys777Met)
c.2342A>T (p.Lys781Met)
c.2345A>T (p.Lys782Met)
gnomAD v4
22g.20425646T>CCA410738554SCARF2c.2330A>G (p.Lys777Arg)
c.2342A>G (p.Lys781Arg)
c.2345A>G (p.Lys782Arg)
gnomAD v4
22g.20425646T>GCA410738555SCARF2c.2330A>C (p.Lys777Thr)
c.2342A>C (p.Lys781Thr)
c.2345A>C (p.Lys782Thr)
22g.20425647T>ACA410738558SCARF2c.2329A>T (p.Lys777Ter)
c.2341A>T (p.Lys781Ter)
c.2344A>T (p.Lys782Ter)
22g.20425647T>CCA410738556SCARF2c.2329A>G (p.Lys777Glu)
c.2341A>G (p.Lys781Glu)
c.2344A>G (p.Lys782Glu)
dbSNP gnomAD v2 gnomAD v4
22g.20425647T>GCA410738557SCARF2c.2329A>C (p.Lys777Gln)
c.2341A>C (p.Lys781Gln)
c.2344A>C (p.Lys782Gln)
22g.20425647T=CA2396362583SCARF2c.2329A= (p.Lys777=)
c.2341A= (p.Lys781=)
c.2344A= (p.Lys782=)
22g.20425648G>ACA513694779SCARF2c.2328C>T (p.Gly776=)
c.2340C>T (p.Gly780=)
c.2343C>T (p.Gly781=)
dbSNP gnomAD v4
22g.20425648G>CCA513694781SCARF2c.2328C>G (p.Gly776=)
c.2340C>G (p.Gly780=)
c.2343C>G (p.Gly781=)
gnomAD v4
22g.20425648G=CA2396362585SCARF2c.2328C= (p.Gly776=)
c.2340C= (p.Gly780=)
c.2343C= (p.Gly781=)
22g.20425648G>TCA513694778SCARF2c.2328C>A (p.Gly776=)
c.2340C>A (p.Gly780=)
c.2343C>A (p.Gly781=)
gnomAD v4
22g.20425648dupCA2577652136SCARF2c.2328dup (p.Lys777GlnfsTer?)
c.2340dup (p.Lys781GlnfsTer?)
c.2343dup (p.Lys782GlnfsTer?)
22g.20425649C>ACA410738559SCARF2c.2327G>T (p.Gly776Val)
c.2339G>T (p.Gly780Val)
c.2342G>T (p.Gly781Val)
dbSNP gnomAD v2 gnomAD v4
22g.20425649C=CA2396362586SCARF2c.2327G= (p.Gly776=)
c.2339G= (p.Gly780=)
c.2342G= (p.Gly781=)
22g.20425649C>GCA410738560SCARF2c.2327G>C (p.Gly776Ala)
c.2339G>C (p.Gly780Ala)
c.2342G>C (p.Gly781Ala)
gnomAD v4
22g.20425649C>TCA410738561SCARF2c.2327G>A (p.Gly776Asp)
c.2339G>A (p.Gly780Asp)
c.2342G>A (p.Gly781Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425650delCA2655397138SCARF2c.2327del (p.Gly776AlafsTer?)
c.2339del (p.Gly780AlafsTer?)
c.2342del (p.Gly781AlafsTer?)
gnomAD v4
22g.20425650C>ACA410738562SCARF2c.2326G>T (p.Gly776Cys)
c.2338G>T (p.Gly780Cys)
c.2341G>T (p.Gly781Cys)
gnomAD v4
22g.20425650C=CA2396362588SCARF2c.2326G= (p.Gly776=)
c.2338G= (p.Gly780=)
c.2341G= (p.Gly781=)
22g.20425650C>GCA410738563SCARF2c.2326G>C (p.Gly776Arg)
c.2338G>C (p.Gly780Arg)
c.2341G>C (p.Gly781Arg)
22g.20425650C>TCA410738564SCARF2c.2326G>A (p.Gly776Ser)
c.2338G>A (p.Gly780Ser)
c.2341G>A (p.Gly781Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425653_20425654delCA2655397140SCARF2c.2325_2326del (p.Gly776GlnfsTer?)
c.2337_2338del (p.Gly780GlnfsTer?)
c.2340_2341del (p.Gly781GlnfsTer?)
gnomAD v4
22g.20425651G>ACA10112187SCARF2c.2325C>T (p.Arg775=)
c.2337C>T (p.Arg779=)
c.2340C>T (p.Arg780=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425651G>CCA513694791SCARF2c.2325C>G (p.Arg775=)
c.2337C>G (p.Arg779=)
c.2340C>G (p.Arg780=)
gnomAD v4
22g.20425651G=CA2396362589SCARF2c.2325C= (p.Arg775=)
c.2337C= (p.Arg779=)
c.2340C= (p.Arg780=)
22g.20425651G>TCA513694795SCARF2c.2325C>A (p.Arg775=)
c.2337C>A (p.Arg779=)
c.2340C>A (p.Arg780=)
dbSNP gnomAD v2 gnomAD v4
22g.20425652C>ACA410738565SCARF2c.2324G>T (p.Arg775Leu)
c.2336G>T (p.Arg779Leu)
c.2339G>T (p.Arg780Leu)
gnomAD v4
22g.20425652C>GCA410738566SCARF2c.2324G>C (p.Arg775Pro)
c.2336G>C (p.Arg779Pro)
c.2339G>C (p.Arg780Pro)
22g.20425652C>TCA410738567SCARF2c.2324G>A (p.Arg775His)
c.2336G>A (p.Arg779His)
c.2339G>A (p.Arg780His)
gnomAD v4
22g.20425653G>ACA410738568SCARF2c.2323C>T (p.Arg775Cys)
c.2335C>T (p.Arg779Cys)
c.2338C>T (p.Arg780Cys)
dbSNP gnomAD v2 gnomAD v4
22g.20425653G>CCA410738569SCARF2c.2323C>G (p.Arg775Gly)
c.2335C>G (p.Arg779Gly)
c.2338C>G (p.Arg780Gly)
gnomAD v4
22g.20425653G=CA2396362591SCARF2c.2323C= (p.Arg775=)
c.2335C= (p.Arg779=)
c.2338C= (p.Arg780=)
22g.20425653G>TCA410738570SCARF2c.2323C>A (p.Arg775Ser)
c.2335C>A (p.Arg779Ser)
c.2338C>A (p.Arg780Ser)
22g.20425654C>ACA513694799SCARF2c.2322G>T (p.Leu774=)
c.2334G>T (p.Leu778=)
c.2337G>T (p.Leu779=)
gnomAD v4
22g.20425654C=CA2396362595SCARF2c.2322G= (p.Leu774=)
c.2334G= (p.Leu778=)
c.2337G= (p.Leu779=)
22g.20425654C>GCA513694804SCARF2c.2322G>C (p.Leu774=)
c.2334G>C (p.Leu778=)
c.2337G>C (p.Leu779=)
dbSNP gnomAD v2 gnomAD v4
22g.20425654C>TCA513694798SCARF2c.2322G>A (p.Leu774=)
c.2334G>A (p.Leu778=)
c.2337G>A (p.Leu779=)
gnomAD v4
22g.20425654_20425655delCA751516869SCARF2c.2321_2322del (p.Leu774ProfsTer?)
c.2333_2334del (p.Leu778ProfsTer?)
c.2336_2337del (p.Leu779ProfsTer?)
22g.20425654_20425656delinsCAGCA2396362594SCARF2c.2320_2322delinsCTG (p.Leu774=)
c.2332_2334delinsCTG (p.Leu778=)
c.2335_2337delinsCTG (p.Leu779=)
22g.20425655A=CA2396362599SCARF2c.2321T= (p.Leu774=)
c.2333T= (p.Leu778=)
c.2336T= (p.Leu779=)
22g.20425655A>CCA410738572SCARF2c.2321T>G (p.Leu774Arg)
c.2333T>G (p.Leu778Arg)
c.2336T>G (p.Leu779Arg)
22g.20425655A>GCA322182166SCARF2c.2321T>C (p.Leu774Pro)
c.2333T>C (p.Leu778Pro)
c.2336T>C (p.Leu779Pro)
dbSNP gnomAD v3 gnomAD v4
22g.20425655A>TCA410738571SCARF2c.2321T>A (p.Leu774Gln)
c.2333T>A (p.Leu778Gln)
c.2336T>A (p.Leu779Gln)
22g.20425655_20425656delCA920338345SCARF2c.2320_2321del (p.Leu774AlafsTer?)
c.2332_2333del (p.Leu778AlafsTer?)
c.2335_2336del (p.Leu779AlafsTer?)
dbSNP
22g.20425655_20425656delinsAGCA2396362598SCARF2c.2320_2321delinsCT (p.Leu774=)
c.2332_2333delinsCT (p.Leu778=)
c.2335_2336delinsCT (p.Leu779=)
22g.20425656delCA322182168SCARF2c.2320del (p.Leu774CysfsTer?)
c.2332del (p.Leu778CysfsTer?)
c.2335del (p.Leu779CysfsTer?)
dbSNP
22g.20425656G>ACA751516878SCARF2c.2320C>T (p.Leu774=)
c.2332C>T (p.Leu778=)
c.2335C>T (p.Leu779=)
dbSNP gnomAD v4
22g.20425656G>CCA322182170SCARF2c.2320C>G (p.Leu774Val)
c.2332C>G (p.Leu778Val)
c.2335C>G (p.Leu779Val)
dbSNP
22g.20425656G=CA10112188SCARF2c.2320C= (p.Leu774=)
c.2332C= (p.Leu778=)
c.2335C= (p.Leu779=)
22g.20425656G>TCA2580673560SCARF2c.2320C>A (p.Leu774Met)
c.2332C>A (p.Leu778Met)
c.2335C>A (p.Leu779Met)
gnomAD v4
22g.20425656_20425657delinsCGCA322182169SCARF2c.2319_2320delinsCG (p.Glu773_Leu774delinsAspVal)
c.2331_2332delinsCG (p.Glu777_Leu778delinsAspVal)
c.2334_2335delinsCG (p.Glu778_Leu779delinsAspVal)
dbSNP
22g.20425656_20425657delinsGCCA2396362603SCARF2c.2319_2320delinsGC (p.Glu773=)
c.2331_2332delinsGC (p.Glu777=)
c.2334_2335delinsGC (p.Glu778=)
22g.20425656_20425657dupCA920338346SCARF2c.2319_2320dup (p.Leu774ArgfsTer?)
c.2331_2332dup (p.Leu778ArgfsTer?)
c.2334_2335dup (p.Leu779ArgfsTer?)
dbSNP
22g.20425657delCA322182172SCARF2c.2319del (p.Glu773AspfsTer?)
c.2331del (p.Glu777AspfsTer?)
c.2334del (p.Glu778AspfsTer?)
dbSNP
22g.20425657C>ACA751516885SCARF2c.2319G>T (p.Glu773Asp)
c.2331G>T (p.Glu777Asp)
c.2334G>T (p.Glu778Asp)
dbSNP gnomAD v4
22g.20425657C=CA10112189SCARF2c.2319G= (p.Glu773=)
c.2331G= (p.Glu777=)
c.2334G= (p.Glu778=)
22g.20425657C>GCA322182173SCARF2c.2319G>C (p.Glu773Asp)
c.2331G>C (p.Glu777Asp)
c.2334G>C (p.Glu778Asp)
dbSNP gnomAD v4
22g.20425657C>TCA2396362606SCARF2c.2319G>A (p.Glu773=)
c.2331G>A (p.Glu777=)
c.2334G>A (p.Glu778=)
dbSNP gnomAD v4
22g.20425658T>ACA410738573SCARF2c.2318A>T (p.Glu773Val)
c.2330A>T (p.Glu777Val)
c.2333A>T (p.Glu778Val)
22g.20425658T>CCA410738574SCARF2c.2318A>G (p.Glu773Gly)
c.2330A>G (p.Glu777Gly)
c.2333A>G (p.Glu778Gly)
dbSNP gnomAD v4
22g.20425658T>GCA410738575SCARF2c.2318A>C (p.Glu773Ala)
c.2330A>C (p.Glu777Ala)
c.2333A>C (p.Glu778Ala)
22g.20425659C>ACA410738576SCARF2c.2317G>T (p.Glu773Ter)
c.2329G>T (p.Glu777Ter)
c.2332G>T (p.Glu778Ter)
gnomAD v4
22g.20425659C>GCA410738577SCARF2c.2317G>C (p.Glu773Gln)
c.2329G>C (p.Glu777Gln)
c.2332G>C (p.Glu778Gln)
gnomAD v4
22g.20425659C>TCA410738578SCARF2c.2317G>A (p.Glu773Lys)
c.2329G>A (p.Glu777Lys)
c.2332G>A (p.Glu778Lys)
gnomAD v4
22g.20425660A>CCA513694822SCARF2c.2316T>G (p.Ala772=)
c.2328T>G (p.Ala776=)
c.2331T>G (p.Ala777=)
22g.20425660A>GCA513694820SCARF2c.2316T>C (p.Ala772=)
c.2328T>C (p.Ala776=)
c.2331T>C (p.Ala777=)
gnomAD v4
22g.20425660A>TCA513694821SCARF2c.2316T>A (p.Ala772=)
c.2328T>A (p.Ala776=)
c.2331T>A (p.Ala777=)
22g.20425661G>ACA410738579SCARF2c.2315C>T (p.Ala772Val)
c.2327C>T (p.Ala776Val)
c.2330C>T (p.Ala777Val)
gnomAD v4
22g.20425661G>CCA410738580SCARF2c.2315C>G (p.Ala772Gly)
c.2327C>G (p.Ala776Gly)
c.2330C>G (p.Ala777Gly)
gnomAD v4
22g.20425661G>TCA410738581SCARF2c.2315C>A (p.Ala772Asp)
c.2327C>A (p.Ala776Asp)
c.2330C>A (p.Ala777Asp)
gnomAD v4
22g.20425662C>ACA410738582SCARF2c.2314G>T (p.Ala772Ser)
c.2326G>T (p.Ala776Ser)
c.2329G>T (p.Ala777Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425662C=CA2396362609SCARF2c.2314G= (p.Ala772=)
c.2326G= (p.Ala776=)
c.2329G= (p.Ala777=)
22g.20425662C>GCA410738583SCARF2c.2314G>C (p.Ala772Pro)
c.2326G>C (p.Ala776Pro)
c.2329G>C (p.Ala777Pro)
22g.20425662C>TCA410738584SCARF2c.2314G>A (p.Ala772Thr)
c.2326G>A (p.Ala776Thr)
c.2329G>A (p.Ala777Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425663G>ACA10112190SCARF2c.2313C>T (p.Ala771=)
c.2325C>T (p.Ala775=)
c.2328C>T (p.Ala776=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425663G>CCA322182188SCARF2c.2313C>G (p.Ala771=)
c.2325C>G (p.Ala775=)
c.2328C>G (p.Ala776=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425663G=CA2396362611SCARF2c.2313C= (p.Ala771=)
c.2325C= (p.Ala775=)
c.2328C= (p.Ala776=)
22g.20425663G>TCA513694829SCARF2c.2313C>A (p.Ala771=)
c.2325C>A (p.Ala775=)
c.2328C>A (p.Ala776=)
gnomAD v4
22g.20425664G>ACA410738585SCARF2c.2312C>T (p.Ala771Val)
c.2324C>T (p.Ala775Val)
c.2327C>T (p.Ala776Val)
dbSNP gnomAD v2 gnomAD v4
22g.20425664G>CCA410738587SCARF2c.2312C>G (p.Ala771Gly)
c.2324C>G (p.Ala775Gly)
c.2327C>G (p.Ala776Gly)
22g.20425664G=CA2396362614SCARF2c.2312C= (p.Ala771=)
c.2324C= (p.Ala775=)
c.2327C= (p.Ala776=)
22g.20425664G>TCA410738586SCARF2c.2312C>A (p.Ala771Asp)
c.2324C>A (p.Ala775Asp)
c.2327C>A (p.Ala776Asp)
dbSNP gnomAD v2 gnomAD v4
22g.20425665C>ACA410738588SCARF2c.2311G>T (p.Ala771Ser)
c.2323G>T (p.Ala775Ser)
c.2326G>T (p.Ala776Ser)
gnomAD v4
22g.20425665C=CA2396362616SCARF2c.2311G= (p.Ala771=)
c.2323G= (p.Ala775=)
c.2326G= (p.Ala776=)
22g.20425665C>GCA410738589SCARF2c.2311G>C (p.Ala771Pro)
c.2323G>C (p.Ala775Pro)
c.2326G>C (p.Ala776Pro)
22g.20425665C>TCA410738590SCARF2c.2311G>A (p.Ala771Thr)
c.2323G>A (p.Ala775Thr)
c.2326G>A (p.Ala776Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425666C>ACA410738591SCARF2c.2310G>T (p.Leu770Phe)
c.2322G>T (p.Leu774Phe)
c.2325G>T (p.Leu775Phe)
gnomAD v4
22g.20425666C>GCA410738592SCARF2c.2310G>C (p.Leu770Phe)
c.2322G>C (p.Leu774Phe)
c.2325G>C (p.Leu775Phe)
22g.20425666C>TCA513694838SCARF2c.2310G>A (p.Leu770=)
c.2322G>A (p.Leu774=)
c.2325G>A (p.Leu775=)
22g.20425667A=CA2396362618SCARF2c.2309T= (p.Leu770=)
c.2321T= (p.Leu774=)
c.2324T= (p.Leu775=)
22g.20425667A>CCA410738593SCARF2c.2309T>G (p.Leu770Trp)
c.2321T>G (p.Leu774Trp)
c.2324T>G (p.Leu775Trp)
22g.20425667A>GCA410738594SCARF2c.2309T>C (p.Leu770Ser)
c.2321T>C (p.Leu774Ser)
c.2324T>C (p.Leu775Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425667A>TCA410738595SCARF2c.2309T>A (p.Leu770Ter)
c.2321T>A (p.Leu774Ter)
c.2324T>A (p.Leu775Ter)
dbSNP gnomAD v2
22g.20425668A=CA2396362621SCARF2c.2308T= (p.Leu770=)
c.2320T= (p.Leu774=)
c.2323T= (p.Leu775=)
22g.20425668A>CCA410738596SCARF2c.2308T>G (p.Leu770Val)
c.2320T>G (p.Leu774Val)
c.2323T>G (p.Leu775Val)
22g.20425668A>GCA513694844SCARF2c.2308T>C (p.Leu770=)
c.2320T>C (p.Leu774=)
c.2323T>C (p.Leu775=)
dbSNP gnomAD v3 gnomAD v4
22g.20425668A>TCA410738597SCARF2c.2308T>A (p.Leu770Met)
c.2320T>A (p.Leu774Met)
c.2323T>A (p.Leu775Met)
22g.20425669C>ACA410738599SCARF2c.2307G>T (p.Met769Ile)
c.2319G>T (p.Met773Ile)
c.2322G>T (p.Met774Ile)
gnomAD v4
22g.20425669C>GCA410738600SCARF2c.2307G>C (p.Met769Ile)
c.2319G>C (p.Met773Ile)
c.2322G>C (p.Met774Ile)
gnomAD v4
22g.20425669C>TCA410738598SCARF2c.2307G>A (p.Met769Ile)
c.2319G>A (p.Met773Ile)
c.2322G>A (p.Met774Ile)
gnomAD v4
22g.20425670A>CCA410738601SCARF2c.2306T>G (p.Met769Arg)
c.2318T>G (p.Met773Arg)
c.2321T>G (p.Met774Arg)
22g.20425670A>GCA410738602SCARF2c.2306T>C (p.Met769Thr)
c.2318T>C (p.Met773Thr)
c.2321T>C (p.Met774Thr)
gnomAD v4
22g.20425670A>TCA410738603SCARF2c.2306T>A (p.Met769Lys)
c.2318T>A (p.Met773Lys)
c.2321T>A (p.Met774Lys)
22g.20425671T>ACA410738604SCARF2c.2305A>T (p.Met769Leu)
c.2317A>T (p.Met773Leu)
c.2320A>T (p.Met774Leu)
gnomAD v4
22g.20425671T>CCA410738605SCARF2c.2305A>G (p.Met769Val)
c.2317A>G (p.Met773Val)
c.2320A>G (p.Met774Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425671T>GCA410738606SCARF2c.2305A>C (p.Met769Leu)
c.2317A>C (p.Met773Leu)
c.2320A>C (p.Met774Leu)
22g.20425671T=CA2396362623SCARF2c.2305A= (p.Met769=)
c.2317A= (p.Met773=)
c.2320A= (p.Met774=)
22g.20425672G>ACA513694860SCARF2c.2304C>T (p.Ser768=)
c.2316C>T (p.Ser772=)
c.2319C>T (p.Ser773=)
dbSNP gnomAD v3 gnomAD v4
22g.20425672G>CCA513694861SCARF2c.2304C>G (p.Ser768=)
c.2316C>G (p.Ser772=)
c.2319C>G (p.Ser773=)
gnomAD v4
22g.20425672G=CA2396362625SCARF2c.2304C= (p.Ser768=)
c.2316C= (p.Ser772=)
c.2319C= (p.Ser773=)
22g.20425672G>TCA513694859SCARF2c.2304C>A (p.Ser768=)
c.2316C>A (p.Ser772=)
c.2319C>A (p.Ser773=)
gnomAD v4
22g.20425673G>ACA410738607SCARF2c.2303C>T (p.Ser768Phe)
c.2315C>T (p.Ser772Phe)
c.2318C>T (p.Ser773Phe)
gnomAD v4
22g.20425673G>CCA410738608SCARF2c.2303C>G (p.Ser768Cys)
c.2315C>G (p.Ser772Cys)
c.2318C>G (p.Ser773Cys)
dbSNP gnomAD v2 gnomAD v4
22g.20425673G=CA2396362626SCARF2c.2303C= (p.Ser768=)
c.2315C= (p.Ser772=)
c.2318C= (p.Ser773=)
22g.20425673G>TCA410738609SCARF2c.2303C>A (p.Ser768Tyr)
c.2315C>A (p.Ser772Tyr)
c.2318C>A (p.Ser773Tyr)
gnomAD v4
22g.20425674delCA2655397145SCARF2c.2302del (p.Ser768ProfsTer?)
c.2314del (p.Ser772ProfsTer?)
c.2317del (p.Ser773ProfsTer?)
gnomAD v4
22g.20425674A=CA2396362628SCARF2c.2302T= (p.Ser768=)
c.2314T= (p.Ser772=)
c.2317T= (p.Ser773=)
22g.20425674A>CCA410738610SCARF2c.2302T>G (p.Ser768Ala)
c.2314T>G (p.Ser772Ala)
c.2317T>G (p.Ser773Ala)
22g.20425674A>GCA410738611SCARF2c.2302T>C (p.Ser768Pro)
c.2314T>C (p.Ser772Pro)
c.2317T>C (p.Ser773Pro)
dbSNP gnomAD v2 gnomAD v4
22g.20425674A>TCA410738612SCARF2c.2302T>A (p.Ser768Thr)
c.2314T>A (p.Ser772Thr)
c.2317T>A (p.Ser773Thr)
gnomAD v4
22g.20425675G>ACA513694868SCARF2c.2301C>T (p.Ala767=)
c.2313C>T (p.Ala771=)
c.2316C>T (p.Ala772=)
gnomAD v4
22g.20425675G>CCA513694866SCARF2c.2301C>G (p.Ala767=)
c.2313C>G (p.Ala771=)
c.2316C>G (p.Ala772=)
22g.20425675G=CA2396362631SCARF2c.2301C= (p.Ala767=)
c.2313C= (p.Ala771=)
c.2316C= (p.Ala772=)
22g.20425675G>TCA513694871SCARF2c.2301C>A (p.Ala767=)
c.2313C>A (p.Ala771=)
c.2316C>A (p.Ala772=)
dbSNP gnomAD v2 gnomAD v4
22g.20425675_20425676insCTGCA2655397146SCARF2c.2301_2302insAGC (p.Ala767_Ser768insSer)
c.2313_2314insAGC (p.Ala771_Ser772insSer)
c.2316_2317insAGC (p.Ala772_Ser773insSer)
gnomAD v4
22g.20425676G>ACA410738614SCARF2c.2300C>T (p.Ala767Val)
c.2312C>T (p.Ala771Val)
c.2315C>T (p.Ala772Val)
gnomAD v4
22g.20425676G>CCA410738615SCARF2c.2300C>G (p.Ala767Gly)
c.2312C>G (p.Ala771Gly)
c.2315C>G (p.Ala772Gly)
22g.20425676G>TCA410738613SCARF2c.2300C>A (p.Ala767Asp)
c.2312C>A (p.Ala771Asp)
c.2315C>A (p.Ala772Asp)
gnomAD v4
22g.20425677C>ACA410738616SCARF2c.2299G>T (p.Ala767Ser)
c.2311G>T (p.Ala771Ser)
c.2314G>T (p.Ala772Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425677C=CA2396362633SCARF2c.2299G= (p.Ala767=)
c.2311G= (p.Ala771=)
c.2314G= (p.Ala772=)
22g.20425677C>GCA410738617SCARF2c.2299G>C (p.Ala767Pro)
c.2311G>C (p.Ala771Pro)
c.2314G>C (p.Ala772Pro)
22g.20425677C>TCA410738618SCARF2c.2299G>A (p.Ala767Thr)
c.2311G>A (p.Ala771Thr)
c.2314G>A (p.Ala772Thr)
gnomAD v4
22g.20425678A>CCA513694878SCARF2c.2298T>G (p.Ala766=)
c.2310T>G (p.Ala770=)
c.2313T>G (p.Ala771=)
22g.20425678A>GCA513694880SCARF2c.2298T>C (p.Ala766=)
c.2310T>C (p.Ala770=)
c.2313T>C (p.Ala771=)
gnomAD v4
22g.20425678A>TCA513694881SCARF2c.2298T>A (p.Ala766=)
c.2310T>A (p.Ala770=)
c.2313T>A (p.Ala771=)
22g.20425679G>ACA410738619SCARF2c.2297C>T (p.Ala766Val)
c.2309C>T (p.Ala770Val)
c.2312C>T (p.Ala771Val)
dbSNP gnomAD v2 gnomAD v4
22g.20425679G>CCA410738620SCARF2c.2297C>G (p.Ala766Gly)
c.2309C>G (p.Ala770Gly)
c.2312C>G (p.Ala771Gly)
22g.20425679G=CA2396362635SCARF2c.2297C= (p.Ala766=)
c.2309C= (p.Ala770=)
c.2312C= (p.Ala771=)
22g.20425679G>TCA410738621SCARF2c.2297C>A (p.Ala766Asp)
c.2309C>A (p.Ala770Asp)
c.2312C>A (p.Ala771Asp)
dbSNP gnomAD v2 gnomAD v4
22g.20425680C>ACA10112191SCARF2c.2296G>T (p.Ala766Ser)
c.2308G>T (p.Ala770Ser)
c.2311G>T (p.Ala771Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425680C=CA2396362637SCARF2c.2296G= (p.Ala766=)
c.2308G= (p.Ala770=)
c.2311G= (p.Ala771=)
22g.20425680C>GCA410738622SCARF2c.2296G>C (p.Ala766Pro)
c.2308G>C (p.Ala770Pro)
c.2311G>C (p.Ala771Pro)
22g.20425680C>TCA410738623SCARF2c.2296G>A (p.Ala766Thr)
c.2308G>A (p.Ala770Thr)
c.2311G>A (p.Ala771Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425681C>ACA410738624SCARF2c.2295G>T (p.Glu765Asp)
c.2307G>T (p.Glu769Asp)
c.2310G>T (p.Glu770Asp)
gnomAD v4
22g.20425681C>GCA410738625SCARF2c.2295G>C (p.Glu765Asp)
c.2307G>C (p.Glu769Asp)
c.2310G>C (p.Glu770Asp)
22g.20425681C>TCA513694883SCARF2c.2295G>A (p.Glu765=)
c.2307G>A (p.Glu769=)
c.2310G>A (p.Glu770=)
22g.20425682T>ACA410738626SCARF2c.2294A>T (p.Glu765Val)
c.2306A>T (p.Glu769Val)
c.2309A>T (p.Glu770Val)
22g.20425682T>CCA410738627SCARF2c.2294A>G (p.Glu765Gly)
c.2306A>G (p.Glu769Gly)
c.2309A>G (p.Glu770Gly)
dbSNP gnomAD v2 gnomAD v4
22g.20425682T>GCA410738628SCARF2c.2294A>C (p.Glu765Ala)
c.2306A>C (p.Glu769Ala)
c.2309A>C (p.Glu770Ala)
22g.20425682T=CA2396362639SCARF2c.2294A= (p.Glu765=)
c.2306A= (p.Glu769=)
c.2309A= (p.Glu770=)
22g.20425682dupCA513694891SCARF2c.2294dup (p.Ala766GlyfsTer8)
c.2306dup (p.Ala770GlyfsTer8)
c.2309dup (p.Ala771GlyfsTer8)
22g.20425683C>ACA410738629SCARF2c.2293G>T (p.Glu765Ter)
c.2305G>T (p.Glu769Ter)
c.2308G>T (p.Glu770Ter)
gnomAD v4
22g.20425683C=CA2396362641SCARF2c.2293G= (p.Glu765=)
c.2305G= (p.Glu769=)
c.2308G= (p.Glu770=)
22g.20425683C>GCA410738631SCARF2c.2293G>C (p.Glu765Gln)
c.2305G>C (p.Glu769Gln)
c.2308G>C (p.Glu770Gln)
dbSNP gnomAD v3 gnomAD v4
22g.20425683C>TCA410738630SCARF2c.2293G>A (p.Glu765Lys)
c.2305G>A (p.Glu769Lys)
c.2308G>A (p.Glu770Lys)
gnomAD v4
22g.20425683dupCA751516939SCARF2c.2293dup (p.Glu765GlyfsTer9)
c.2305dup (p.Glu769GlyfsTer9)
c.2308dup (p.Glu770GlyfsTer9)
dbSNP
22g.20425684G>ACA2655397150SCARF2c.2292C>T (p.Pro764=)
c.2305-1C>T (n.2305-1C>T)
c.2307C>T (p.Pro769=)
gnomAD v4
22g.20425684G>CCA751516954SCARF2c.2292C>G (p.Pro764=)
c.2305-1C>G (n.2305-1C>G)
c.2307C>G (p.Pro769=)
dbSNP gnomAD v3 gnomAD v4
22g.20425684G=CA2396362644SCARF2c.2292C= (p.Pro764=)
c.2305-1C= (n.2305-1C=)
c.2307C= (p.Pro769=)
22g.20425684G>TCA2655397148SCARF2c.2292C>A (p.Pro764=)
c.2305-1C>A (n.2305-1C>A)
c.2307C>A (p.Pro769=)
gnomAD v4
22g.20425686dupCA16609827SCARF2c.2292dup (p.Glu765ArgfsTer9)
c.2305-1dup
c.2307dup (p.Glu770ArgfsTer9)
ClinVar dbSNP
22g.20425684_20425685insTCA638940761SCARF2c.2291_2292insA (p.Glu765ArgfsTer9)
c.2304_2305-1insA (n.2304_2305-1insA)
c.2306_2307insA (p.Glu770ArgfsTer9)
gnomAD v2
22g.20425685G>ACA410738634SCARF2c.2291C>T (p.Pro764Leu)
c.2304C>T (p.Ala768=)
c.2306C>T (p.Pro769Leu)
gnomAD v4
22g.20425685G>CCA410738632SCARF2c.2291C>G (p.Pro764Arg)
c.2304C>G (p.Ala768=)
c.2306C>G (p.Pro769Arg)
22g.20425685G>TCA410738633SCARF2c.2291C>A (p.Pro764His)
c.2304C>A (p.Ala768=)
c.2306C>A (p.Pro769His)
gnomAD v4
22g.20425686G>ACA410738635SCARF2c.2290C>T (p.Pro764Ser)
c.2303C>T (p.Ala768Val)
c.2305C>T (p.Pro769Ser)
gnomAD v4
22g.20425686G>CCA410738636SCARF2c.2290C>G (p.Pro764Ala)
c.2303C>G (p.Ala768Gly)
c.2305C>G (p.Pro769Ala)
22g.20425686G>TCA410738637SCARF2c.2290C>A (p.Pro764Thr)
c.2303C>A (p.Ala768Asp)
c.2305C>A (p.Pro769Thr)
gnomAD v4
22g.20425686_20425687delinsGCCA2396362646SCARF2c.2289_2290delinsGC (p.Ala763=)
c.2302_2303delinsGC (p.Ala768=)
c.2304_2305delinsGC (p.Ala768=)
22g.20425686_20425687insTCA638940762SCARF2c.2289_2290insA (p.Pro764ThrfsTer10)
c.2302_2303insA (p.Ala768AspfsTer10)
c.2304_2305insA (p.Pro769ThrfsTer10)
gnomAD v2
22g.20425687delCA513694898SCARF2c.2289del (p.Glu765ArgfsTer?)
c.2302del (p.Ala768ProfsTer?)
c.2304del (p.Glu770ArgfsTer?)
dbSNP gnomAD v2
22g.20425687C>ACA410738638SCARF2c.2289G>T (p.Ala763=)
c.2302G>T (p.Ala768Ser)
c.2304G>T (p.Ala768=)
gnomAD v4
22g.20425687C=CA2396362649SCARF2c.2289G= (p.Ala763=)
c.2302G= (p.Ala768=)
c.2304G= (p.Ala768=)
22g.20425687C>GCA410738639SCARF2c.2289G>C (p.Ala763=)
c.2302G>C (p.Ala768Pro)
c.2304G>C (p.Ala768=)
dbSNP gnomAD v4
22g.20425687C>TCA410738640SCARF2c.2289G>A (p.Ala763=)
c.2302G>A (p.Ala768Thr)
c.2304G>A (p.Ala768=)
gnomAD v4
22g.20425688delCA410738642SCARF2c.2288del (p.Ala763GlyfsTer?)
c.2301del (p.Ala768ProfsTer?)
c.2303del (p.Ala768GlyfsTer?)
22g.20425688G>ACA410738641SCARF2c.2288C>T (p.Ala763Val)
c.2301C>T (p.Arg767=)
c.2303C>T (p.Ala768Val)
gnomAD v4
22g.20425688G>CCA410738644SCARF2c.2288C>G (p.Ala763Gly)
c.2301C>G (p.Arg767=)
c.2303C>G (p.Ala768Gly)
22g.20425688G=CA2396362651SCARF2c.2288C= (p.Ala763=)
c.2301C= (p.Arg767=)
c.2303C= (p.Ala768=)
22g.20425688G>TCA410738643SCARF2c.2288C>A (p.Ala763Glu)
c.2301C>A (p.Arg767=)
c.2303C>A (p.Ala768Glu)
dbSNP gnomAD v3 gnomAD v4
22g.20425689C>ACA410738645SCARF2c.2287G>T (p.Ala763Ser)
c.2300G>T (p.Arg767Leu)
c.2302G>T (p.Ala768Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425689C=CA2396362653SCARF2c.2287G= (p.Ala763=)
c.2300G= (p.Arg767=)
c.2302G= (p.Ala768=)
22g.20425689C>GCA410738646SCARF2c.2287G>C (p.Ala763Pro)
c.2300G>C (p.Arg767Pro)
c.2302G>C (p.Ala768Pro)
22g.20425689C>TCA410738647SCARF2c.2287G>A (p.Ala763Thr)
c.2300G>A (p.Arg767His)
c.2302G>A (p.Ala768Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425689dupCA2573054973SCARF2c.2287dup (p.Ala763GlyfsTer11)
c.2300dup (p.Ala768ArgfsTer10)
c.2302dup (p.Ala768GlyfsTer11)
ClinVar dbSNP
22g.20425690G>ACA410738650SCARF2c.2286C>T (p.Ser762=)
c.2299C>T (p.Arg767Cys)
c.2301C>T (p.Ser767=)
dbSNP gnomAD v2 gnomAD v4
22g.20425690G>CCA410738654SCARF2c.2286C>G (p.Ser762Arg)
c.2299C>G (p.Arg767Gly)
c.2301C>G (p.Ser767Arg)
gnomAD v4
22g.20425690G=CA2396362655SCARF2c.2286C= (p.Ser762=)
c.2299C= (p.Arg767=)
c.2301C= (p.Ser767=)
22g.20425690G>TCA410738652SCARF2c.2286C>A (p.Ser762Arg)
c.2299C>A (p.Arg767Ser)
c.2301C>A (p.Ser767Arg)
gnomAD v4
22g.20425691C>ACA10112192SCARF2c.2285G>T (p.Ser762Ile)
c.2298G>T (p.Lys766Asn)
c.2300G>T (p.Ser767Ile)
dbSNP ExAC gnomAD v4
22g.20425691C=CA2396362657SCARF2c.2285G= (p.Ser762=)
c.2298G= (p.Lys766=)
c.2300G= (p.Ser767=)
22g.20425691C>GCA410738658SCARF2c.2285G>C (p.Ser762Thr)
c.2298G>C (p.Lys766Asn)
c.2300G>C (p.Ser767Thr)
22g.20425691C>TCA410738660SCARF2c.2285G>A (p.Ser762Asn)
c.2298G>A (p.Lys766=)
c.2300G>A (p.Ser767Asn)
22g.20425692T>ACA410738663SCARF2c.2284A>T (p.Ser762Cys)
c.2297A>T (p.Lys766Met)
c.2299A>T (p.Ser767Cys)
22g.20425692T>CCA322182202SCARF2c.2284A>G (p.Ser762Gly)
c.2297A>G (p.Lys766Arg)
c.2299A>G (p.Ser767Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425692T>GCA410738666SCARF2c.2284A>C (p.Ser762Arg)
c.2297A>C (p.Lys766Thr)
c.2299A>C (p.Ser767Arg)
22g.20425692T=CA2396362659SCARF2c.2284A= (p.Ser762=)
c.2297A= (p.Lys766=)
c.2299A= (p.Ser767=)
22g.20425693T>ACA410738669SCARF2c.2283A>T (p.Arg761=)
c.2296A>T (p.Lys766Ter)
c.2298A>T (p.Arg766=)
22g.20425693T>CCA410738671SCARF2c.2283A>G (p.Arg761=)
c.2296A>G (p.Lys766Glu)
c.2298A>G (p.Arg766=)
dbSNP gnomAD v4
22g.20425693T>GCA410738673SCARF2c.2283A>C (p.Arg761=)
c.2296A>C (p.Lys766Gln)
c.2298A>C (p.Arg766=)
22g.20425693T=CA2396362661SCARF2c.2283A= (p.Arg761=)
c.2296A= (p.Lys766=)
c.2298A= (p.Arg766=)
22g.20425694C>ACA410738676SCARF2c.2282G>T (p.Arg761Leu)
c.2295G>T (p.Ala765=)
c.2297G>T (p.Arg766Leu)
dbSNP gnomAD v2 gnomAD v4
22g.20425694C=CA2396362663SCARF2c.2282G= (p.Arg761=)
c.2295G= (p.Ala765=)
c.2297G= (p.Arg766=)
22g.20425694C>GCA410738678SCARF2c.2282G>C (p.Arg761Pro)
c.2295G>C (p.Ala765=)
c.2297G>C (p.Arg766Pro)
22g.20425694C>TCA410738680SCARF2c.2282G>A (p.Arg761Gln)
c.2295G>A (p.Ala765=)
c.2297G>A (p.Arg766Gln)
gnomAD v4
22g.20425695G>ACA410738683SCARF2c.2281C>T (p.Arg761Ter)
c.2294C>T (p.Ala765Val)
c.2296C>T (p.Arg766Ter)
dbSNP gnomAD v2 gnomAD v4
22g.20425695G>CCA410738687SCARF2c.2281C>G (p.Arg761Gly)
c.2294C>G (p.Ala765Gly)
c.2296C>G (p.Arg766Gly)
gnomAD v4
22g.20425695G=CA2396362665SCARF2c.2281C= (p.Arg761=)
c.2294C= (p.Ala765=)
c.2296C= (p.Arg766=)
22g.20425695G>TCA410738685SCARF2c.2281C>A (p.Arg761=)
c.2294C>A (p.Ala765Glu)
c.2296C>A (p.Arg766=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425696C>ACA410738689SCARF2c.2280G>T (p.Pro760=)
c.2293G>T (p.Ala765Ser)
c.2295G>T (p.Pro765=)
22g.20425696C=CA2396362667SCARF2c.2280G= (p.Pro760=)
c.2293G= (p.Ala765=)
c.2295G= (p.Pro765=)
22g.20425696C>GCA410738691SCARF2c.2280G>C (p.Pro760=)
c.2293G>C (p.Ala765Pro)
c.2295G>C (p.Pro765=)
22g.20425696C>TCA410738692SCARF2c.2280G>A (p.Pro760=)
c.2293G>A (p.Ala765Thr)
c.2295G>A (p.Pro765=)
dbSNP gnomAD v2 gnomAD v4
22g.20425697G>ACA410738695SCARF2c.2279C>T (p.Pro760Leu)
c.2292C>T (p.Pro764=)
c.2294C>T (p.Pro765Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425697G>CCA410738697SCARF2c.2279C>G (p.Pro760Arg)
c.2292C>G (p.Pro764=)
c.2294C>G (p.Pro765Arg)
22g.20425697G=CA2396362670SCARF2c.2279C= (p.Pro760=)
c.2292C= (p.Pro764=)
c.2294C= (p.Pro765=)
22g.20425697G>TCA410738699SCARF2c.2279C>A (p.Pro760Gln)
c.2292C>A (p.Pro764=)
c.2294C>A (p.Pro765Gln)
dbSNP gnomAD v2 gnomAD v4
22g.20425701dupCA2655397152SCARF2c.2279dup (p.Arg761AlafsTer13)
c.2292dup (p.Ala765ArgfsTer13)
c.2294dup (p.Arg766AlafsTer13)
gnomAD v4
22g.20425701delCA2655397153SCARF2c.2279del (p.Pro760ArgfsTer?)
c.2292del (p.Ala765ArgfsTer?)
c.2294del (p.Pro765ArgfsTer?)
gnomAD v4
22g.20425698G>ACA410738702SCARF2c.2278C>T (p.Pro760Ser)
c.2291C>T (p.Pro764Leu)
c.2293C>T (p.Pro765Ser)
gnomAD v4
22g.20425698G>CCA410738704SCARF2c.2278C>G (p.Pro760Ala)
c.2291C>G (p.Pro764Arg)
c.2293C>G (p.Pro765Ala)
22g.20425698G=CA2396362672SCARF2c.2278C= (p.Pro760=)
c.2291C= (p.Pro764=)
c.2293C= (p.Pro765=)
22g.20425698G>TCA410738707SCARF2c.2278C>A (p.Pro760Thr)
c.2291C>A (p.Pro764His)
c.2293C>A (p.Pro765Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425699G>ACA410738709SCARF2c.2277C>T (p.Pro759=)
c.2290C>T (p.Pro764Ser)
c.2292C>T (p.Pro764=)
gnomAD v4
22g.20425699G>CCA410738711SCARF2c.2277C>G (p.Pro759=)
c.2290C>G (p.Pro764Ala)
c.2292C>G (p.Pro764=)
22g.20425699G>TCA410738713SCARF2c.2277C>A (p.Pro759=)
c.2290C>A (p.Pro764Thr)
c.2292C>A (p.Pro764=)
22g.20425700G>ACA410738720SCARF2c.2276C>T (p.Pro759Leu)
c.2289C>T (p.Ser763=)
c.2291C>T (p.Pro764Leu)
gnomAD v4
22g.20425700G>CCA410738716SCARF2c.2276C>G (p.Pro759Arg)
c.2289C>G (p.Ser763=)
c.2291C>G (p.Pro764Arg)
22g.20425700G=CA2396362674SCARF2c.2276C= (p.Pro759=)
c.2289C= (p.Ser763=)
c.2291C= (p.Pro764=)
22g.20425700G>TCA410738718SCARF2c.2276C>A (p.Pro759His)
c.2289C>A (p.Ser763=)
c.2291C>A (p.Pro764His)
dbSNP gnomAD v4
22g.20425701G>ACA410738723SCARF2c.2275C>T (p.Pro759Ser)
c.2288C>T (p.Ser763Phe)
c.2290C>T (p.Pro764Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425701G>CCA410738725SCARF2c.2275C>G (p.Pro759Ala)
c.2288C>G (p.Ser763Cys)
c.2290C>G (p.Pro764Ala)
gnomAD v2 gnomAD v3 gnomAD v4
22g.20425701G=CA2396362675SCARF2c.2275C= (p.Pro759=)
c.2288C= (p.Ser763=)
c.2290C= (p.Pro764=)
22g.20425701G>TCA410738728SCARF2c.2275C>A (p.Pro759Thr)
c.2288C>A (p.Ser763Tyr)
c.2290C>A (p.Pro764Thr)
dbSNP gnomAD v4
22g.20425702delCA2655397154SCARF2c.2274del (p.Pro760ArgfsTer?)
c.2287del (p.Ser763ProfsTer?)
c.2289del (p.Pro765ArgfsTer?)
gnomAD v4
22g.20425702A=CA2396362676SCARF2c.2274T= (p.Gly758=)
c.2287T= (p.Ser763=)
c.2289T= (p.Gly763=)
22g.20425702A>CCA410738731SCARF2c.2274T>G (p.Gly758=)
c.2287T>G (p.Ser763Ala)
c.2289T>G (p.Gly763=)
22g.20425702A>GCA410738733SCARF2c.2274T>C (p.Gly758=)
c.2287T>C (p.Ser763Pro)
c.2289T>C (p.Gly763=)
dbSNP gnomAD v2 gnomAD v4
22g.20425702A>TCA410738735SCARF2c.2274T>A (p.Gly758=)
c.2287T>A (p.Ser763Thr)
c.2289T>A (p.Gly763=)
22g.20425703C>ACA410738738SCARF2c.2273G>T (p.Gly758Val)
c.2286G>T (p.Arg762=)
c.2288G>T (p.Gly763Val)
gnomAD v4
22g.20425703C=CA2396362677SCARF2c.2273G= (p.Gly758=)
c.2286G= (p.Arg762=)
c.2288G= (p.Gly763=)
22g.20425703C>GCA410738740SCARF2c.2273G>C (p.Gly758Ala)
c.2286G>C (p.Arg762=)
c.2288G>C (p.Gly763Ala)
22g.20425703C>TCA10112193SCARF2c.2273G>A (p.Gly758Asp)
c.2286G>A (p.Arg762=)
c.2288G>A (p.Gly763Asp)
dbSNP ExAC gnomAD v4
22g.20425704C>ACA410738744SCARF2c.2272G>T (p.Gly758Cys)
c.2285G>T (p.Arg762Leu)
c.2287G>T (p.Gly763Cys)
gnomAD v4
22g.20425704C=CA2396362678SCARF2c.2272G= (p.Gly758=)
c.2285G= (p.Arg762=)
c.2287G= (p.Gly763=)
22g.20425704C>GCA410738746SCARF2c.2272G>C (p.Gly758Arg)
c.2285G>C (p.Arg762Pro)
c.2287G>C (p.Gly763Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425704C>TCA410738748SCARF2c.2272G>A (p.Gly758Ser)
c.2285G>A (p.Arg762Gln)
c.2287G>A (p.Gly763Ser)
dbSNP gnomAD v4
22g.20425705G>ACA410738750SCARF2c.2271C>T (p.Gly757=)
c.2284C>T (p.Arg762Trp)
c.2286C>T (p.Gly762=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425705G>CCA410738752SCARF2c.2271C>G (p.Gly757=)
c.2284C>G (p.Arg762Gly)
c.2286C>G (p.Gly762=)
22g.20425705G=CA2396362680SCARF2c.2271C= (p.Gly757=)
c.2284C= (p.Arg762=)
c.2286C= (p.Gly762=)
22g.20425705G>TCA513694945SCARF2c.2271C>A (p.Gly757=)
c.2284C>A (p.Arg762=)
c.2286C>A (p.Gly762=)
gnomAD v4
22g.20425706C>ACA410738755SCARF2c.2270G>T (p.Gly757Val)
c.2283G>T (p.Arg761=)
c.2285G>T (p.Gly762Val)
dbSNP gnomAD v2 gnomAD v4
22g.20425706C=CA2396362682SCARF2c.2270G= (p.Gly757=)
c.2283G= (p.Arg761=)
c.2285G= (p.Gly762=)
22g.20425706C>GCA410738759SCARF2c.2270G>C (p.Gly757Ala)
c.2283G>C (p.Arg761=)
c.2285G>C (p.Gly762Ala)
22g.20425706C>TCA410738757SCARF2c.2270G>A (p.Gly757Asp)
c.2283G>A (p.Arg761=)
c.2285G>A (p.Gly762Asp)
gnomAD v4
22g.20425707C>ACA410738762SCARF2c.2269G>T (p.Gly757Cys)
c.2282G>T (p.Arg761Leu)
c.2284G>T (p.Gly762Cys)
gnomAD v4
22g.20425707C>GCA410738764SCARF2c.2269G>C (p.Gly757Arg)
c.2282G>C (p.Arg761Pro)
c.2284G>C (p.Gly762Arg)
22g.20425707C>TCA410738767SCARF2c.2269G>A (p.Gly757Ser)
c.2282G>A (p.Arg761Gln)
c.2284G>A (p.Gly762Ser)
gnomAD v4
22g.20425708G>ACA410738770SCARF2c.2268C>T (p.Ala756=)
c.2281C>T (p.Arg761Trp)
c.2283C>T (p.Ala761=)
gnomAD v4
22g.20425708G>CCA410738771SCARF2c.2268C>G (p.Ala756=)
c.2281C>G (p.Arg761Gly)
c.2283C>G (p.Ala761=)
gnomAD v4
22g.20425708G>TCA513694950SCARF2c.2268C>A (p.Ala756=)
c.2281C>A (p.Arg761=)
c.2283C>A (p.Ala761=)
22g.20425709G>ACA410738774SCARF2c.2267C>T (p.Ala756Val)
c.2280C>T (p.Arg760=)
c.2282C>T (p.Ala761Val)
22g.20425709G>CCA410738776SCARF2c.2267C>G (p.Ala756Gly)
c.2280C>G (p.Arg760=)
c.2282C>G (p.Ala761Gly)
22g.20425709G>TCA410738777SCARF2c.2267C>A (p.Ala756Asp)
c.2280C>A (p.Arg760=)
c.2282C>A (p.Ala761Asp)
gnomAD v4
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

Number of alleles fetched