Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.20425629G>A | CA410738519 | SCARF2 | c.2347C>T (p.Arg783Cys) c.2359C>T (p.Arg787Cys) c.2362C>T (p.Arg788Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425629G>C | CA410738520 | SCARF2 | c.2347C>G (p.Arg783Gly) c.2359C>G (p.Arg787Gly) c.2362C>G (p.Arg788Gly) | |
22 | g.20425629G= | CA2396362563 | SCARF2 | c.2347C= (p.Arg783=) c.2359C= (p.Arg787=) c.2362C= (p.Arg788=) | |
22 | g.20425629G>T | CA10112185 | SCARF2 | c.2347C>A (p.Arg783Ser) c.2359C>A (p.Arg787Ser) c.2362C>A (p.Arg788Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425630G>A | CA513694698 | SCARF2 | c.2346C>T (p.Gly782=) c.2358C>T (p.Gly786=) c.2361C>T (p.Gly787=) | gnomAD v4 |
22 | g.20425630G>C | CA513694697 | SCARF2 | c.2346C>G (p.Gly782=) c.2358C>G (p.Gly786=) c.2361C>G (p.Gly787=) | |
22 | g.20425630G>T | CA513694696 | SCARF2 | c.2346C>A (p.Gly782=) c.2358C>A (p.Gly786=) c.2361C>A (p.Gly787=) | gnomAD v4 |
22 | g.20425630_20425632del | CA2655397136 | SCARF2 | c.2344_2346del (p.Gly782del) c.2356_2358del (p.Gly786del) c.2359_2361del (p.Gly787del) | gnomAD v4 |
22 | g.20425631C>A | CA410738521 | SCARF2 | c.2345G>T (p.Gly782Val) c.2357G>T (p.Gly786Val) c.2360G>T (p.Gly787Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425631C= | CA2396362566 | SCARF2 | c.2345G= (p.Gly782=) c.2357G= (p.Gly786=) c.2360G= (p.Gly787=) | |
22 | g.20425631C>G | CA410738522 | SCARF2 | c.2345G>C (p.Gly782Ala) c.2357G>C (p.Gly786Ala) c.2360G>C (p.Gly787Ala) | |
22 | g.20425631C>T | CA410738523 | SCARF2 | c.2345G>A (p.Gly782Asp) c.2357G>A (p.Gly786Asp) c.2360G>A (p.Gly787Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425633del | CA2655397137 | SCARF2 | c.2345del (p.Gly782AlafsTer?) c.2357del (p.Gly786AlafsTer?) c.2360del (p.Gly787AlafsTer?) | gnomAD v4 |
22 | g.20425632C>A | CA410738524 | SCARF2 | c.2344G>T (p.Gly782Cys) c.2356G>T (p.Gly786Cys) c.2359G>T (p.Gly787Cys) | gnomAD v4 |
22 | g.20425632C= | CA2396362568 | SCARF2 | c.2344G= (p.Gly782=) c.2356G= (p.Gly786=) c.2359G= (p.Gly787=) | |
22 | g.20425632C>G | CA410738525 | SCARF2 | c.2344G>C (p.Gly782Arg) c.2356G>C (p.Gly786Arg) c.2359G>C (p.Gly787Arg) | |
22 | g.20425632C>T | CA322182150 | SCARF2 | c.2344G>A (p.Gly782Ser) c.2356G>A (p.Gly786Ser) c.2359G>A (p.Gly787Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425633C>A | CA513694709 | SCARF2 | c.2343G>T (p.Leu781=) c.2355G>T (p.Leu785=) c.2358G>T (p.Leu786=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425633C= | CA2396362570 | SCARF2 | c.2343G= (p.Leu781=) c.2355G= (p.Leu785=) c.2358G= (p.Leu786=) | |
22 | g.20425633C>G | CA513694707 | SCARF2 | c.2343G>C (p.Leu781=) c.2355G>C (p.Leu785=) c.2358G>C (p.Leu786=) | gnomAD v4 |
22 | g.20425633C>T | CA513694706 | SCARF2 | c.2343G>A (p.Leu781=) c.2355G>A (p.Leu785=) c.2358G>A (p.Leu786=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425634A>C | CA410738526 | SCARF2 | c.2342T>G (p.Leu781Arg) c.2354T>G (p.Leu785Arg) c.2357T>G (p.Leu786Arg) | gnomAD v4 |
22 | g.20425634A>G | CA410738528 | SCARF2 | c.2342T>C (p.Leu781Pro) c.2354T>C (p.Leu785Pro) c.2357T>C (p.Leu786Pro) | gnomAD v4 |
22 | g.20425634A>T | CA410738527 | SCARF2 | c.2342T>A (p.Leu781Gln) c.2354T>A (p.Leu785Gln) c.2357T>A (p.Leu786Gln) | gnomAD v4 |
22 | g.20425635G>A | CA10112186 | SCARF2 | c.2341C>T (p.Leu781=) c.2353C>T (p.Leu785=) c.2356C>T (p.Leu786=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425635G>C | CA410738529 | SCARF2 | c.2341C>G (p.Leu781Val) c.2353C>G (p.Leu785Val) c.2356C>G (p.Leu786Val) | |
22 | g.20425635G= | CA2396362573 | SCARF2 | c.2341C= (p.Leu781=) c.2353C= (p.Leu785=) c.2356C= (p.Leu786=) | |
22 | g.20425635G>T | CA410738530 | SCARF2 | c.2341C>A (p.Leu781Met) c.2353C>A (p.Leu785Met) c.2356C>A (p.Leu786Met) | gnomAD v4 |
22 | g.20425636G>A | CA513694720 | SCARF2 | c.2340C>T (p.Ser780=) c.2352C>T (p.Ser784=) c.2355C>T (p.Ser785=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425636G>C | CA410738531 | SCARF2 | c.2340C>G (p.Ser780Arg) c.2352C>G (p.Ser784Arg) c.2355C>G (p.Ser785Arg) | gnomAD v4 |
22 | g.20425636G= | CA2396362575 | SCARF2 | c.2340C= (p.Ser780=) c.2352C= (p.Ser784=) c.2355C= (p.Ser785=) | |
22 | g.20425636G>T | CA410738532 | SCARF2 | c.2340C>A (p.Ser780Arg) c.2352C>A (p.Ser784Arg) c.2355C>A (p.Ser785Arg) | dbSNP gnomAD v4 |
22 | g.20425637C>A | CA410738533 | SCARF2 | c.2339G>T (p.Ser780Ile) c.2351G>T (p.Ser784Ile) c.2354G>T (p.Ser785Ile) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425637C= | CA2396362577 | SCARF2 | c.2339G= (p.Ser780=) c.2351G= (p.Ser784=) c.2354G= (p.Ser785=) | |
22 | g.20425637C>G | CA410738534 | SCARF2 | c.2339G>C (p.Ser780Thr) c.2351G>C (p.Ser784Thr) c.2354G>C (p.Ser785Thr) | |
22 | g.20425637C>T | CA410738535 | SCARF2 | c.2339G>A (p.Ser780Asn) c.2351G>A (p.Ser784Asn) c.2354G>A (p.Ser785Asn) | dbSNP gnomAD v4 |
22 | g.20425638T>A | CA410738536 | SCARF2 | c.2338A>T (p.Ser780Cys) c.2350A>T (p.Ser784Cys) c.2353A>T (p.Ser785Cys) | |
22 | g.20425638T>C | CA410738537 | SCARF2 | c.2338A>G (p.Ser780Gly) c.2350A>G (p.Ser784Gly) c.2353A>G (p.Ser785Gly) | gnomAD v4 |
22 | g.20425638T>G | CA410738538 | SCARF2 | c.2338A>C (p.Ser780Arg) c.2350A>C (p.Ser784Arg) c.2353A>C (p.Ser785Arg) | |
22 | g.20425639G>A | CA513694740 | SCARF2 | c.2337C>T (p.Arg779=) c.2349C>T (p.Arg783=) c.2352C>T (p.Arg784=) | gnomAD v4 |
22 | g.20425639G>C | CA513694734 | SCARF2 | c.2337C>G (p.Arg779=) c.2349C>G (p.Arg783=) c.2352C>G (p.Arg784=) | gnomAD v4 |
22 | g.20425639G>T | CA513694737 | SCARF2 | c.2337C>A (p.Arg779=) c.2349C>A (p.Arg783=) c.2352C>A (p.Arg784=) | gnomAD v4 |
22 | g.20425640C>A | CA410738541 | SCARF2 | c.2336G>T (p.Arg779Leu) c.2348G>T (p.Arg783Leu) c.2351G>T (p.Arg784Leu) | gnomAD v4 |
22 | g.20425640C= | CA2396362579 | SCARF2 | c.2336G= (p.Arg779=) c.2348G= (p.Arg783=) c.2351G= (p.Arg784=) | |
22 | g.20425640C>G | CA410738540 | SCARF2 | c.2336G>C (p.Arg779Pro) c.2348G>C (p.Arg783Pro) c.2351G>C (p.Arg784Pro) | |
22 | g.20425640C>T | CA410738539 | SCARF2 | c.2336G>A (p.Arg779His) c.2348G>A (p.Arg783His) c.2351G>A (p.Arg784His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425641G>A | CA410738544 | SCARF2 | c.2335C>T (p.Arg779Cys) c.2347C>T (p.Arg783Cys) c.2350C>T (p.Arg784Cys) | gnomAD v4 |
22 | g.20425641G>C | CA410738542 | SCARF2 | c.2335C>G (p.Arg779Gly) c.2347C>G (p.Arg783Gly) c.2350C>G (p.Arg784Gly) | gnomAD v4 |
22 | g.20425641G>T | CA410738543 | SCARF2 | c.2335C>A (p.Arg779Ser) c.2347C>A (p.Arg783Ser) c.2350C>A (p.Arg784Ser) | gnomAD v4 |
22 | g.20425642A>C | CA513694761 | SCARF2 | c.2334T>G (p.Thr778=) c.2346T>G (p.Thr782=) c.2349T>G (p.Thr783=) | |
22 | g.20425642A>G | CA513694759 | SCARF2 | c.2334T>C (p.Thr778=) c.2346T>C (p.Thr782=) c.2349T>C (p.Thr783=) | gnomAD v4 |
22 | g.20425642A>T | CA513694760 | SCARF2 | c.2334T>A (p.Thr778=) c.2346T>A (p.Thr782=) c.2349T>A (p.Thr783=) | gnomAD v4 |
22 | g.20425643G>A | CA410738545 | SCARF2 | c.2333C>T (p.Thr778Ile) c.2345C>T (p.Thr782Ile) c.2348C>T (p.Thr783Ile) | gnomAD v4 |
22 | g.20425643G>C | CA410738546 | SCARF2 | c.2333C>G (p.Thr778Ser) c.2345C>G (p.Thr782Ser) c.2348C>G (p.Thr783Ser) | |
22 | g.20425643G= | CA2396362581 | SCARF2 | c.2333C= (p.Thr778=) c.2345C= (p.Thr782=) c.2348C= (p.Thr783=) | |
22 | g.20425643G>T | CA410738547 | SCARF2 | c.2333C>A (p.Thr778Asn) c.2345C>A (p.Thr782Asn) c.2348C>A (p.Thr783Asn) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425644T>A | CA410738548 | SCARF2 | c.2332A>T (p.Thr778Ser) c.2344A>T (p.Thr782Ser) c.2347A>T (p.Thr783Ser) | gnomAD v4 |
22 | g.20425644T>C | CA410738549 | SCARF2 | c.2332A>G (p.Thr778Ala) c.2344A>G (p.Thr782Ala) c.2347A>G (p.Thr783Ala) | gnomAD v4 |
22 | g.20425644T>G | CA410738550 | SCARF2 | c.2332A>C (p.Thr778Pro) c.2344A>C (p.Thr782Pro) c.2347A>C (p.Thr783Pro) | |
22 | g.20425645C>A | CA410738551 | SCARF2 | c.2331G>T (p.Lys777Asn) c.2343G>T (p.Lys781Asn) c.2346G>T (p.Lys782Asn) | gnomAD v4 |
22 | g.20425645C>G | CA410738552 | SCARF2 | c.2331G>C (p.Lys777Asn) c.2343G>C (p.Lys781Asn) c.2346G>C (p.Lys782Asn) | |
22 | g.20425645C>T | CA513694766 | SCARF2 | c.2331G>A (p.Lys777=) c.2343G>A (p.Lys781=) c.2346G>A (p.Lys782=) | gnomAD v4 |
22 | g.20425646T>A | CA410738553 | SCARF2 | c.2330A>T (p.Lys777Met) c.2342A>T (p.Lys781Met) c.2345A>T (p.Lys782Met) | gnomAD v4 |
22 | g.20425646T>C | CA410738554 | SCARF2 | c.2330A>G (p.Lys777Arg) c.2342A>G (p.Lys781Arg) c.2345A>G (p.Lys782Arg) | gnomAD v4 |
22 | g.20425646T>G | CA410738555 | SCARF2 | c.2330A>C (p.Lys777Thr) c.2342A>C (p.Lys781Thr) c.2345A>C (p.Lys782Thr) | |
22 | g.20425647T>A | CA410738558 | SCARF2 | c.2329A>T (p.Lys777Ter) c.2341A>T (p.Lys781Ter) c.2344A>T (p.Lys782Ter) | |
22 | g.20425647T>C | CA410738556 | SCARF2 | c.2329A>G (p.Lys777Glu) c.2341A>G (p.Lys781Glu) c.2344A>G (p.Lys782Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425647T>G | CA410738557 | SCARF2 | c.2329A>C (p.Lys777Gln) c.2341A>C (p.Lys781Gln) c.2344A>C (p.Lys782Gln) | |
22 | g.20425647T= | CA2396362583 | SCARF2 | c.2329A= (p.Lys777=) c.2341A= (p.Lys781=) c.2344A= (p.Lys782=) | |
22 | g.20425648G>A | CA513694779 | SCARF2 | c.2328C>T (p.Gly776=) c.2340C>T (p.Gly780=) c.2343C>T (p.Gly781=) | dbSNP gnomAD v4 |
22 | g.20425648G>C | CA513694781 | SCARF2 | c.2328C>G (p.Gly776=) c.2340C>G (p.Gly780=) c.2343C>G (p.Gly781=) | gnomAD v4 |
22 | g.20425648G= | CA2396362585 | SCARF2 | c.2328C= (p.Gly776=) c.2340C= (p.Gly780=) c.2343C= (p.Gly781=) | |
22 | g.20425648G>T | CA513694778 | SCARF2 | c.2328C>A (p.Gly776=) c.2340C>A (p.Gly780=) c.2343C>A (p.Gly781=) | gnomAD v4 |
22 | g.20425648dup | CA2577652136 | SCARF2 | c.2328dup (p.Lys777GlnfsTer?) c.2340dup (p.Lys781GlnfsTer?) c.2343dup (p.Lys782GlnfsTer?) | |
22 | g.20425649C>A | CA410738559 | SCARF2 | c.2327G>T (p.Gly776Val) c.2339G>T (p.Gly780Val) c.2342G>T (p.Gly781Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425649C= | CA2396362586 | SCARF2 | c.2327G= (p.Gly776=) c.2339G= (p.Gly780=) c.2342G= (p.Gly781=) | |
22 | g.20425649C>G | CA410738560 | SCARF2 | c.2327G>C (p.Gly776Ala) c.2339G>C (p.Gly780Ala) c.2342G>C (p.Gly781Ala) | gnomAD v4 |
22 | g.20425649C>T | CA410738561 | SCARF2 | c.2327G>A (p.Gly776Asp) c.2339G>A (p.Gly780Asp) c.2342G>A (p.Gly781Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425650del | CA2655397138 | SCARF2 | c.2327del (p.Gly776AlafsTer?) c.2339del (p.Gly780AlafsTer?) c.2342del (p.Gly781AlafsTer?) | gnomAD v4 |
22 | g.20425650C>A | CA410738562 | SCARF2 | c.2326G>T (p.Gly776Cys) c.2338G>T (p.Gly780Cys) c.2341G>T (p.Gly781Cys) | gnomAD v4 |
22 | g.20425650C= | CA2396362588 | SCARF2 | c.2326G= (p.Gly776=) c.2338G= (p.Gly780=) c.2341G= (p.Gly781=) | |
22 | g.20425650C>G | CA410738563 | SCARF2 | c.2326G>C (p.Gly776Arg) c.2338G>C (p.Gly780Arg) c.2341G>C (p.Gly781Arg) | |
22 | g.20425650C>T | CA410738564 | SCARF2 | c.2326G>A (p.Gly776Ser) c.2338G>A (p.Gly780Ser) c.2341G>A (p.Gly781Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425653_20425654del | CA2655397140 | SCARF2 | c.2325_2326del (p.Gly776GlnfsTer?) c.2337_2338del (p.Gly780GlnfsTer?) c.2340_2341del (p.Gly781GlnfsTer?) | gnomAD v4 |
22 | g.20425651G>A | CA10112187 | SCARF2 | c.2325C>T (p.Arg775=) c.2337C>T (p.Arg779=) c.2340C>T (p.Arg780=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425651G>C | CA513694791 | SCARF2 | c.2325C>G (p.Arg775=) c.2337C>G (p.Arg779=) c.2340C>G (p.Arg780=) | gnomAD v4 |
22 | g.20425651G= | CA2396362589 | SCARF2 | c.2325C= (p.Arg775=) c.2337C= (p.Arg779=) c.2340C= (p.Arg780=) | |
22 | g.20425651G>T | CA513694795 | SCARF2 | c.2325C>A (p.Arg775=) c.2337C>A (p.Arg779=) c.2340C>A (p.Arg780=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425652C>A | CA410738565 | SCARF2 | c.2324G>T (p.Arg775Leu) c.2336G>T (p.Arg779Leu) c.2339G>T (p.Arg780Leu) | gnomAD v4 |
22 | g.20425652C>G | CA410738566 | SCARF2 | c.2324G>C (p.Arg775Pro) c.2336G>C (p.Arg779Pro) c.2339G>C (p.Arg780Pro) | |
22 | g.20425652C>T | CA410738567 | SCARF2 | c.2324G>A (p.Arg775His) c.2336G>A (p.Arg779His) c.2339G>A (p.Arg780His) | gnomAD v4 |
22 | g.20425653G>A | CA410738568 | SCARF2 | c.2323C>T (p.Arg775Cys) c.2335C>T (p.Arg779Cys) c.2338C>T (p.Arg780Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425653G>C | CA410738569 | SCARF2 | c.2323C>G (p.Arg775Gly) c.2335C>G (p.Arg779Gly) c.2338C>G (p.Arg780Gly) | gnomAD v4 |
22 | g.20425653G= | CA2396362591 | SCARF2 | c.2323C= (p.Arg775=) c.2335C= (p.Arg779=) c.2338C= (p.Arg780=) | |
22 | g.20425653G>T | CA410738570 | SCARF2 | c.2323C>A (p.Arg775Ser) c.2335C>A (p.Arg779Ser) c.2338C>A (p.Arg780Ser) | |
22 | g.20425654C>A | CA513694799 | SCARF2 | c.2322G>T (p.Leu774=) c.2334G>T (p.Leu778=) c.2337G>T (p.Leu779=) | gnomAD v4 |
22 | g.20425654C= | CA2396362595 | SCARF2 | c.2322G= (p.Leu774=) c.2334G= (p.Leu778=) c.2337G= (p.Leu779=) | |
22 | g.20425654C>G | CA513694804 | SCARF2 | c.2322G>C (p.Leu774=) c.2334G>C (p.Leu778=) c.2337G>C (p.Leu779=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425654C>T | CA513694798 | SCARF2 | c.2322G>A (p.Leu774=) c.2334G>A (p.Leu778=) c.2337G>A (p.Leu779=) | gnomAD v4 |
22 | g.20425654_20425655del | CA751516869 | SCARF2 | c.2321_2322del (p.Leu774ProfsTer?) c.2333_2334del (p.Leu778ProfsTer?) c.2336_2337del (p.Leu779ProfsTer?) | |
22 | g.20425654_20425656delinsCAG | CA2396362594 | SCARF2 | c.2320_2322delinsCTG (p.Leu774=) c.2332_2334delinsCTG (p.Leu778=) c.2335_2337delinsCTG (p.Leu779=) | |
22 | g.20425655A= | CA2396362599 | SCARF2 | c.2321T= (p.Leu774=) c.2333T= (p.Leu778=) c.2336T= (p.Leu779=) | |
22 | g.20425655A>C | CA410738572 | SCARF2 | c.2321T>G (p.Leu774Arg) c.2333T>G (p.Leu778Arg) c.2336T>G (p.Leu779Arg) | |
22 | g.20425655A>G | CA322182166 | SCARF2 | c.2321T>C (p.Leu774Pro) c.2333T>C (p.Leu778Pro) c.2336T>C (p.Leu779Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425655A>T | CA410738571 | SCARF2 | c.2321T>A (p.Leu774Gln) c.2333T>A (p.Leu778Gln) c.2336T>A (p.Leu779Gln) | |
22 | g.20425655_20425656del | CA920338345 | SCARF2 | c.2320_2321del (p.Leu774AlafsTer?) c.2332_2333del (p.Leu778AlafsTer?) c.2335_2336del (p.Leu779AlafsTer?) | dbSNP |
22 | g.20425655_20425656delinsAG | CA2396362598 | SCARF2 | c.2320_2321delinsCT (p.Leu774=) c.2332_2333delinsCT (p.Leu778=) c.2335_2336delinsCT (p.Leu779=) | |
22 | g.20425656del | CA322182168 | SCARF2 | c.2320del (p.Leu774CysfsTer?) c.2332del (p.Leu778CysfsTer?) c.2335del (p.Leu779CysfsTer?) | dbSNP |
22 | g.20425656G>A | CA751516878 | SCARF2 | c.2320C>T (p.Leu774=) c.2332C>T (p.Leu778=) c.2335C>T (p.Leu779=) | dbSNP gnomAD v4 |
22 | g.20425656G>C | CA322182170 | SCARF2 | c.2320C>G (p.Leu774Val) c.2332C>G (p.Leu778Val) c.2335C>G (p.Leu779Val) | dbSNP |
22 | g.20425656G= | CA10112188 | SCARF2 | c.2320C= (p.Leu774=) c.2332C= (p.Leu778=) c.2335C= (p.Leu779=) | |
22 | g.20425656G>T | CA2580673560 | SCARF2 | c.2320C>A (p.Leu774Met) c.2332C>A (p.Leu778Met) c.2335C>A (p.Leu779Met) | gnomAD v4 |
22 | g.20425656_20425657delinsCG | CA322182169 | SCARF2 | c.2319_2320delinsCG (p.Glu773_Leu774delinsAspVal) c.2331_2332delinsCG (p.Glu777_Leu778delinsAspVal) c.2334_2335delinsCG (p.Glu778_Leu779delinsAspVal) | dbSNP |
22 | g.20425656_20425657delinsGC | CA2396362603 | SCARF2 | c.2319_2320delinsGC (p.Glu773=) c.2331_2332delinsGC (p.Glu777=) c.2334_2335delinsGC (p.Glu778=) | |
22 | g.20425656_20425657dup | CA920338346 | SCARF2 | c.2319_2320dup (p.Leu774ArgfsTer?) c.2331_2332dup (p.Leu778ArgfsTer?) c.2334_2335dup (p.Leu779ArgfsTer?) | dbSNP |
22 | g.20425657del | CA322182172 | SCARF2 | c.2319del (p.Glu773AspfsTer?) c.2331del (p.Glu777AspfsTer?) c.2334del (p.Glu778AspfsTer?) | dbSNP |
22 | g.20425657C>A | CA751516885 | SCARF2 | c.2319G>T (p.Glu773Asp) c.2331G>T (p.Glu777Asp) c.2334G>T (p.Glu778Asp) | dbSNP gnomAD v4 |
22 | g.20425657C= | CA10112189 | SCARF2 | c.2319G= (p.Glu773=) c.2331G= (p.Glu777=) c.2334G= (p.Glu778=) | |
22 | g.20425657C>G | CA322182173 | SCARF2 | c.2319G>C (p.Glu773Asp) c.2331G>C (p.Glu777Asp) c.2334G>C (p.Glu778Asp) | dbSNP gnomAD v4 |
22 | g.20425657C>T | CA2396362606 | SCARF2 | c.2319G>A (p.Glu773=) c.2331G>A (p.Glu777=) c.2334G>A (p.Glu778=) | dbSNP gnomAD v4 |
22 | g.20425658T>A | CA410738573 | SCARF2 | c.2318A>T (p.Glu773Val) c.2330A>T (p.Glu777Val) c.2333A>T (p.Glu778Val) | |
22 | g.20425658T>C | CA410738574 | SCARF2 | c.2318A>G (p.Glu773Gly) c.2330A>G (p.Glu777Gly) c.2333A>G (p.Glu778Gly) | dbSNP gnomAD v4 |
22 | g.20425658T>G | CA410738575 | SCARF2 | c.2318A>C (p.Glu773Ala) c.2330A>C (p.Glu777Ala) c.2333A>C (p.Glu778Ala) | |
22 | g.20425659C>A | CA410738576 | SCARF2 | c.2317G>T (p.Glu773Ter) c.2329G>T (p.Glu777Ter) c.2332G>T (p.Glu778Ter) | gnomAD v4 |
22 | g.20425659C>G | CA410738577 | SCARF2 | c.2317G>C (p.Glu773Gln) c.2329G>C (p.Glu777Gln) c.2332G>C (p.Glu778Gln) | gnomAD v4 |
22 | g.20425659C>T | CA410738578 | SCARF2 | c.2317G>A (p.Glu773Lys) c.2329G>A (p.Glu777Lys) c.2332G>A (p.Glu778Lys) | gnomAD v4 |
22 | g.20425660A>C | CA513694822 | SCARF2 | c.2316T>G (p.Ala772=) c.2328T>G (p.Ala776=) c.2331T>G (p.Ala777=) | |
22 | g.20425660A>G | CA513694820 | SCARF2 | c.2316T>C (p.Ala772=) c.2328T>C (p.Ala776=) c.2331T>C (p.Ala777=) | gnomAD v4 |
22 | g.20425660A>T | CA513694821 | SCARF2 | c.2316T>A (p.Ala772=) c.2328T>A (p.Ala776=) c.2331T>A (p.Ala777=) | |
22 | g.20425661G>A | CA410738579 | SCARF2 | c.2315C>T (p.Ala772Val) c.2327C>T (p.Ala776Val) c.2330C>T (p.Ala777Val) | gnomAD v4 |
22 | g.20425661G>C | CA410738580 | SCARF2 | c.2315C>G (p.Ala772Gly) c.2327C>G (p.Ala776Gly) c.2330C>G (p.Ala777Gly) | gnomAD v4 |
22 | g.20425661G>T | CA410738581 | SCARF2 | c.2315C>A (p.Ala772Asp) c.2327C>A (p.Ala776Asp) c.2330C>A (p.Ala777Asp) | gnomAD v4 |
22 | g.20425662C>A | CA410738582 | SCARF2 | c.2314G>T (p.Ala772Ser) c.2326G>T (p.Ala776Ser) c.2329G>T (p.Ala777Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425662C= | CA2396362609 | SCARF2 | c.2314G= (p.Ala772=) c.2326G= (p.Ala776=) c.2329G= (p.Ala777=) | |
22 | g.20425662C>G | CA410738583 | SCARF2 | c.2314G>C (p.Ala772Pro) c.2326G>C (p.Ala776Pro) c.2329G>C (p.Ala777Pro) | |
22 | g.20425662C>T | CA410738584 | SCARF2 | c.2314G>A (p.Ala772Thr) c.2326G>A (p.Ala776Thr) c.2329G>A (p.Ala777Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425663G>A | CA10112190 | SCARF2 | c.2313C>T (p.Ala771=) c.2325C>T (p.Ala775=) c.2328C>T (p.Ala776=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425663G>C | CA322182188 | SCARF2 | c.2313C>G (p.Ala771=) c.2325C>G (p.Ala775=) c.2328C>G (p.Ala776=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425663G= | CA2396362611 | SCARF2 | c.2313C= (p.Ala771=) c.2325C= (p.Ala775=) c.2328C= (p.Ala776=) | |
22 | g.20425663G>T | CA513694829 | SCARF2 | c.2313C>A (p.Ala771=) c.2325C>A (p.Ala775=) c.2328C>A (p.Ala776=) | gnomAD v4 |
22 | g.20425664G>A | CA410738585 | SCARF2 | c.2312C>T (p.Ala771Val) c.2324C>T (p.Ala775Val) c.2327C>T (p.Ala776Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425664G>C | CA410738587 | SCARF2 | c.2312C>G (p.Ala771Gly) c.2324C>G (p.Ala775Gly) c.2327C>G (p.Ala776Gly) | |
22 | g.20425664G= | CA2396362614 | SCARF2 | c.2312C= (p.Ala771=) c.2324C= (p.Ala775=) c.2327C= (p.Ala776=) | |
22 | g.20425664G>T | CA410738586 | SCARF2 | c.2312C>A (p.Ala771Asp) c.2324C>A (p.Ala775Asp) c.2327C>A (p.Ala776Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425665C>A | CA410738588 | SCARF2 | c.2311G>T (p.Ala771Ser) c.2323G>T (p.Ala775Ser) c.2326G>T (p.Ala776Ser) | gnomAD v4 |
22 | g.20425665C= | CA2396362616 | SCARF2 | c.2311G= (p.Ala771=) c.2323G= (p.Ala775=) c.2326G= (p.Ala776=) | |
22 | g.20425665C>G | CA410738589 | SCARF2 | c.2311G>C (p.Ala771Pro) c.2323G>C (p.Ala775Pro) c.2326G>C (p.Ala776Pro) | |
22 | g.20425665C>T | CA410738590 | SCARF2 | c.2311G>A (p.Ala771Thr) c.2323G>A (p.Ala775Thr) c.2326G>A (p.Ala776Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425666C>A | CA410738591 | SCARF2 | c.2310G>T (p.Leu770Phe) c.2322G>T (p.Leu774Phe) c.2325G>T (p.Leu775Phe) | gnomAD v4 |
22 | g.20425666C>G | CA410738592 | SCARF2 | c.2310G>C (p.Leu770Phe) c.2322G>C (p.Leu774Phe) c.2325G>C (p.Leu775Phe) | |
22 | g.20425666C>T | CA513694838 | SCARF2 | c.2310G>A (p.Leu770=) c.2322G>A (p.Leu774=) c.2325G>A (p.Leu775=) | |
22 | g.20425667A= | CA2396362618 | SCARF2 | c.2309T= (p.Leu770=) c.2321T= (p.Leu774=) c.2324T= (p.Leu775=) | |
22 | g.20425667A>C | CA410738593 | SCARF2 | c.2309T>G (p.Leu770Trp) c.2321T>G (p.Leu774Trp) c.2324T>G (p.Leu775Trp) | |
22 | g.20425667A>G | CA410738594 | SCARF2 | c.2309T>C (p.Leu770Ser) c.2321T>C (p.Leu774Ser) c.2324T>C (p.Leu775Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425667A>T | CA410738595 | SCARF2 | c.2309T>A (p.Leu770Ter) c.2321T>A (p.Leu774Ter) c.2324T>A (p.Leu775Ter) | dbSNP gnomAD v2 |
22 | g.20425668A= | CA2396362621 | SCARF2 | c.2308T= (p.Leu770=) c.2320T= (p.Leu774=) c.2323T= (p.Leu775=) | |
22 | g.20425668A>C | CA410738596 | SCARF2 | c.2308T>G (p.Leu770Val) c.2320T>G (p.Leu774Val) c.2323T>G (p.Leu775Val) | |
22 | g.20425668A>G | CA513694844 | SCARF2 | c.2308T>C (p.Leu770=) c.2320T>C (p.Leu774=) c.2323T>C (p.Leu775=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425668A>T | CA410738597 | SCARF2 | c.2308T>A (p.Leu770Met) c.2320T>A (p.Leu774Met) c.2323T>A (p.Leu775Met) | |
22 | g.20425669C>A | CA410738599 | SCARF2 | c.2307G>T (p.Met769Ile) c.2319G>T (p.Met773Ile) c.2322G>T (p.Met774Ile) | gnomAD v4 |
22 | g.20425669C>G | CA410738600 | SCARF2 | c.2307G>C (p.Met769Ile) c.2319G>C (p.Met773Ile) c.2322G>C (p.Met774Ile) | gnomAD v4 |
22 | g.20425669C>T | CA410738598 | SCARF2 | c.2307G>A (p.Met769Ile) c.2319G>A (p.Met773Ile) c.2322G>A (p.Met774Ile) | gnomAD v4 |
22 | g.20425670A>C | CA410738601 | SCARF2 | c.2306T>G (p.Met769Arg) c.2318T>G (p.Met773Arg) c.2321T>G (p.Met774Arg) | |
22 | g.20425670A>G | CA410738602 | SCARF2 | c.2306T>C (p.Met769Thr) c.2318T>C (p.Met773Thr) c.2321T>C (p.Met774Thr) | gnomAD v4 |
22 | g.20425670A>T | CA410738603 | SCARF2 | c.2306T>A (p.Met769Lys) c.2318T>A (p.Met773Lys) c.2321T>A (p.Met774Lys) | |
22 | g.20425671T>A | CA410738604 | SCARF2 | c.2305A>T (p.Met769Leu) c.2317A>T (p.Met773Leu) c.2320A>T (p.Met774Leu) | gnomAD v4 |
22 | g.20425671T>C | CA410738605 | SCARF2 | c.2305A>G (p.Met769Val) c.2317A>G (p.Met773Val) c.2320A>G (p.Met774Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425671T>G | CA410738606 | SCARF2 | c.2305A>C (p.Met769Leu) c.2317A>C (p.Met773Leu) c.2320A>C (p.Met774Leu) | |
22 | g.20425671T= | CA2396362623 | SCARF2 | c.2305A= (p.Met769=) c.2317A= (p.Met773=) c.2320A= (p.Met774=) | |
22 | g.20425672G>A | CA513694860 | SCARF2 | c.2304C>T (p.Ser768=) c.2316C>T (p.Ser772=) c.2319C>T (p.Ser773=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425672G>C | CA513694861 | SCARF2 | c.2304C>G (p.Ser768=) c.2316C>G (p.Ser772=) c.2319C>G (p.Ser773=) | gnomAD v4 |
22 | g.20425672G= | CA2396362625 | SCARF2 | c.2304C= (p.Ser768=) c.2316C= (p.Ser772=) c.2319C= (p.Ser773=) | |
22 | g.20425672G>T | CA513694859 | SCARF2 | c.2304C>A (p.Ser768=) c.2316C>A (p.Ser772=) c.2319C>A (p.Ser773=) | gnomAD v4 |
22 | g.20425673G>A | CA410738607 | SCARF2 | c.2303C>T (p.Ser768Phe) c.2315C>T (p.Ser772Phe) c.2318C>T (p.Ser773Phe) | gnomAD v4 |
22 | g.20425673G>C | CA410738608 | SCARF2 | c.2303C>G (p.Ser768Cys) c.2315C>G (p.Ser772Cys) c.2318C>G (p.Ser773Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425673G= | CA2396362626 | SCARF2 | c.2303C= (p.Ser768=) c.2315C= (p.Ser772=) c.2318C= (p.Ser773=) | |
22 | g.20425673G>T | CA410738609 | SCARF2 | c.2303C>A (p.Ser768Tyr) c.2315C>A (p.Ser772Tyr) c.2318C>A (p.Ser773Tyr) | gnomAD v4 |
22 | g.20425674del | CA2655397145 | SCARF2 | c.2302del (p.Ser768ProfsTer?) c.2314del (p.Ser772ProfsTer?) c.2317del (p.Ser773ProfsTer?) | gnomAD v4 |
22 | g.20425674A= | CA2396362628 | SCARF2 | c.2302T= (p.Ser768=) c.2314T= (p.Ser772=) c.2317T= (p.Ser773=) | |
22 | g.20425674A>C | CA410738610 | SCARF2 | c.2302T>G (p.Ser768Ala) c.2314T>G (p.Ser772Ala) c.2317T>G (p.Ser773Ala) | |
22 | g.20425674A>G | CA410738611 | SCARF2 | c.2302T>C (p.Ser768Pro) c.2314T>C (p.Ser772Pro) c.2317T>C (p.Ser773Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425674A>T | CA410738612 | SCARF2 | c.2302T>A (p.Ser768Thr) c.2314T>A (p.Ser772Thr) c.2317T>A (p.Ser773Thr) | gnomAD v4 |
22 | g.20425675G>A | CA513694868 | SCARF2 | c.2301C>T (p.Ala767=) c.2313C>T (p.Ala771=) c.2316C>T (p.Ala772=) | gnomAD v4 |
22 | g.20425675G>C | CA513694866 | SCARF2 | c.2301C>G (p.Ala767=) c.2313C>G (p.Ala771=) c.2316C>G (p.Ala772=) | |
22 | g.20425675G= | CA2396362631 | SCARF2 | c.2301C= (p.Ala767=) c.2313C= (p.Ala771=) c.2316C= (p.Ala772=) | |
22 | g.20425675G>T | CA513694871 | SCARF2 | c.2301C>A (p.Ala767=) c.2313C>A (p.Ala771=) c.2316C>A (p.Ala772=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425675_20425676insCTG | CA2655397146 | SCARF2 | c.2301_2302insAGC (p.Ala767_Ser768insSer) c.2313_2314insAGC (p.Ala771_Ser772insSer) c.2316_2317insAGC (p.Ala772_Ser773insSer) | gnomAD v4 |
22 | g.20425676G>A | CA410738614 | SCARF2 | c.2300C>T (p.Ala767Val) c.2312C>T (p.Ala771Val) c.2315C>T (p.Ala772Val) | gnomAD v4 |
22 | g.20425676G>C | CA410738615 | SCARF2 | c.2300C>G (p.Ala767Gly) c.2312C>G (p.Ala771Gly) c.2315C>G (p.Ala772Gly) | |
22 | g.20425676G>T | CA410738613 | SCARF2 | c.2300C>A (p.Ala767Asp) c.2312C>A (p.Ala771Asp) c.2315C>A (p.Ala772Asp) | gnomAD v4 |
22 | g.20425677C>A | CA410738616 | SCARF2 | c.2299G>T (p.Ala767Ser) c.2311G>T (p.Ala771Ser) c.2314G>T (p.Ala772Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425677C= | CA2396362633 | SCARF2 | c.2299G= (p.Ala767=) c.2311G= (p.Ala771=) c.2314G= (p.Ala772=) | |
22 | g.20425677C>G | CA410738617 | SCARF2 | c.2299G>C (p.Ala767Pro) c.2311G>C (p.Ala771Pro) c.2314G>C (p.Ala772Pro) | |
22 | g.20425677C>T | CA410738618 | SCARF2 | c.2299G>A (p.Ala767Thr) c.2311G>A (p.Ala771Thr) c.2314G>A (p.Ala772Thr) | gnomAD v4 |
22 | g.20425678A>C | CA513694878 | SCARF2 | c.2298T>G (p.Ala766=) c.2310T>G (p.Ala770=) c.2313T>G (p.Ala771=) | |
22 | g.20425678A>G | CA513694880 | SCARF2 | c.2298T>C (p.Ala766=) c.2310T>C (p.Ala770=) c.2313T>C (p.Ala771=) | gnomAD v4 |
22 | g.20425678A>T | CA513694881 | SCARF2 | c.2298T>A (p.Ala766=) c.2310T>A (p.Ala770=) c.2313T>A (p.Ala771=) | |
22 | g.20425679G>A | CA410738619 | SCARF2 | c.2297C>T (p.Ala766Val) c.2309C>T (p.Ala770Val) c.2312C>T (p.Ala771Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425679G>C | CA410738620 | SCARF2 | c.2297C>G (p.Ala766Gly) c.2309C>G (p.Ala770Gly) c.2312C>G (p.Ala771Gly) | |
22 | g.20425679G= | CA2396362635 | SCARF2 | c.2297C= (p.Ala766=) c.2309C= (p.Ala770=) c.2312C= (p.Ala771=) | |
22 | g.20425679G>T | CA410738621 | SCARF2 | c.2297C>A (p.Ala766Asp) c.2309C>A (p.Ala770Asp) c.2312C>A (p.Ala771Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425680C>A | CA10112191 | SCARF2 | c.2296G>T (p.Ala766Ser) c.2308G>T (p.Ala770Ser) c.2311G>T (p.Ala771Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425680C= | CA2396362637 | SCARF2 | c.2296G= (p.Ala766=) c.2308G= (p.Ala770=) c.2311G= (p.Ala771=) | |
22 | g.20425680C>G | CA410738622 | SCARF2 | c.2296G>C (p.Ala766Pro) c.2308G>C (p.Ala770Pro) c.2311G>C (p.Ala771Pro) | |
22 | g.20425680C>T | CA410738623 | SCARF2 | c.2296G>A (p.Ala766Thr) c.2308G>A (p.Ala770Thr) c.2311G>A (p.Ala771Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425681C>A | CA410738624 | SCARF2 | c.2295G>T (p.Glu765Asp) c.2307G>T (p.Glu769Asp) c.2310G>T (p.Glu770Asp) | gnomAD v4 |
22 | g.20425681C>G | CA410738625 | SCARF2 | c.2295G>C (p.Glu765Asp) c.2307G>C (p.Glu769Asp) c.2310G>C (p.Glu770Asp) | |
22 | g.20425681C>T | CA513694883 | SCARF2 | c.2295G>A (p.Glu765=) c.2307G>A (p.Glu769=) c.2310G>A (p.Glu770=) | |
22 | g.20425682T>A | CA410738626 | SCARF2 | c.2294A>T (p.Glu765Val) c.2306A>T (p.Glu769Val) c.2309A>T (p.Glu770Val) | |
22 | g.20425682T>C | CA410738627 | SCARF2 | c.2294A>G (p.Glu765Gly) c.2306A>G (p.Glu769Gly) c.2309A>G (p.Glu770Gly) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425682T>G | CA410738628 | SCARF2 | c.2294A>C (p.Glu765Ala) c.2306A>C (p.Glu769Ala) c.2309A>C (p.Glu770Ala) | |
22 | g.20425682T= | CA2396362639 | SCARF2 | c.2294A= (p.Glu765=) c.2306A= (p.Glu769=) c.2309A= (p.Glu770=) | |
22 | g.20425682dup | CA513694891 | SCARF2 | c.2294dup (p.Ala766GlyfsTer8) c.2306dup (p.Ala770GlyfsTer8) c.2309dup (p.Ala771GlyfsTer8) | |
22 | g.20425683C>A | CA410738629 | SCARF2 | c.2293G>T (p.Glu765Ter) c.2305G>T (p.Glu769Ter) c.2308G>T (p.Glu770Ter) | gnomAD v4 |
22 | g.20425683C= | CA2396362641 | SCARF2 | c.2293G= (p.Glu765=) c.2305G= (p.Glu769=) c.2308G= (p.Glu770=) | |
22 | g.20425683C>G | CA410738631 | SCARF2 | c.2293G>C (p.Glu765Gln) c.2305G>C (p.Glu769Gln) c.2308G>C (p.Glu770Gln) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425683C>T | CA410738630 | SCARF2 | c.2293G>A (p.Glu765Lys) c.2305G>A (p.Glu769Lys) c.2308G>A (p.Glu770Lys) | gnomAD v4 |
22 | g.20425683dup | CA751516939 | SCARF2 | c.2293dup (p.Glu765GlyfsTer9) c.2305dup (p.Glu769GlyfsTer9) c.2308dup (p.Glu770GlyfsTer9) | dbSNP |
22 | g.20425684G>A | CA2655397150 | SCARF2 | c.2292C>T (p.Pro764=) c.2305-1C>T (n.2305-1C>T) c.2307C>T (p.Pro769=) | gnomAD v4 |
22 | g.20425684G>C | CA751516954 | SCARF2 | c.2292C>G (p.Pro764=) c.2305-1C>G (n.2305-1C>G) c.2307C>G (p.Pro769=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425684G= | CA2396362644 | SCARF2 | c.2292C= (p.Pro764=) c.2305-1C= (n.2305-1C=) c.2307C= (p.Pro769=) | |
22 | g.20425684G>T | CA2655397148 | SCARF2 | c.2292C>A (p.Pro764=) c.2305-1C>A (n.2305-1C>A) c.2307C>A (p.Pro769=) | gnomAD v4 |
22 | g.20425686dup | CA16609827 | SCARF2 | c.2292dup (p.Glu765ArgfsTer9) c.2305-1dup c.2307dup (p.Glu770ArgfsTer9) | ClinVar dbSNP |
22 | g.20425684_20425685insT | CA638940761 | SCARF2 | c.2291_2292insA (p.Glu765ArgfsTer9) c.2304_2305-1insA (n.2304_2305-1insA) c.2306_2307insA (p.Glu770ArgfsTer9) | gnomAD v2 |
22 | g.20425685G>A | CA410738634 | SCARF2 | c.2291C>T (p.Pro764Leu) c.2304C>T (p.Ala768=) c.2306C>T (p.Pro769Leu) | gnomAD v4 |
22 | g.20425685G>C | CA410738632 | SCARF2 | c.2291C>G (p.Pro764Arg) c.2304C>G (p.Ala768=) c.2306C>G (p.Pro769Arg) | |
22 | g.20425685G>T | CA410738633 | SCARF2 | c.2291C>A (p.Pro764His) c.2304C>A (p.Ala768=) c.2306C>A (p.Pro769His) | gnomAD v4 |
22 | g.20425686G>A | CA410738635 | SCARF2 | c.2290C>T (p.Pro764Ser) c.2303C>T (p.Ala768Val) c.2305C>T (p.Pro769Ser) | gnomAD v4 |
22 | g.20425686G>C | CA410738636 | SCARF2 | c.2290C>G (p.Pro764Ala) c.2303C>G (p.Ala768Gly) c.2305C>G (p.Pro769Ala) | |
22 | g.20425686G>T | CA410738637 | SCARF2 | c.2290C>A (p.Pro764Thr) c.2303C>A (p.Ala768Asp) c.2305C>A (p.Pro769Thr) | gnomAD v4 |
22 | g.20425686_20425687delinsGC | CA2396362646 | SCARF2 | c.2289_2290delinsGC (p.Ala763=) c.2302_2303delinsGC (p.Ala768=) c.2304_2305delinsGC (p.Ala768=) | |
22 | g.20425686_20425687insT | CA638940762 | SCARF2 | c.2289_2290insA (p.Pro764ThrfsTer10) c.2302_2303insA (p.Ala768AspfsTer10) c.2304_2305insA (p.Pro769ThrfsTer10) | gnomAD v2 |
22 | g.20425687del | CA513694898 | SCARF2 | c.2289del (p.Glu765ArgfsTer?) c.2302del (p.Ala768ProfsTer?) c.2304del (p.Glu770ArgfsTer?) | dbSNP gnomAD v2 |
22 | g.20425687C>A | CA410738638 | SCARF2 | c.2289G>T (p.Ala763=) c.2302G>T (p.Ala768Ser) c.2304G>T (p.Ala768=) | gnomAD v4 |
22 | g.20425687C= | CA2396362649 | SCARF2 | c.2289G= (p.Ala763=) c.2302G= (p.Ala768=) c.2304G= (p.Ala768=) | |
22 | g.20425687C>G | CA410738639 | SCARF2 | c.2289G>C (p.Ala763=) c.2302G>C (p.Ala768Pro) c.2304G>C (p.Ala768=) | dbSNP gnomAD v4 |
22 | g.20425687C>T | CA410738640 | SCARF2 | c.2289G>A (p.Ala763=) c.2302G>A (p.Ala768Thr) c.2304G>A (p.Ala768=) | gnomAD v4 |
22 | g.20425688del | CA410738642 | SCARF2 | c.2288del (p.Ala763GlyfsTer?) c.2301del (p.Ala768ProfsTer?) c.2303del (p.Ala768GlyfsTer?) | |
22 | g.20425688G>A | CA410738641 | SCARF2 | c.2288C>T (p.Ala763Val) c.2301C>T (p.Arg767=) c.2303C>T (p.Ala768Val) | gnomAD v4 |
22 | g.20425688G>C | CA410738644 | SCARF2 | c.2288C>G (p.Ala763Gly) c.2301C>G (p.Arg767=) c.2303C>G (p.Ala768Gly) | |
22 | g.20425688G= | CA2396362651 | SCARF2 | c.2288C= (p.Ala763=) c.2301C= (p.Arg767=) c.2303C= (p.Ala768=) | |
22 | g.20425688G>T | CA410738643 | SCARF2 | c.2288C>A (p.Ala763Glu) c.2301C>A (p.Arg767=) c.2303C>A (p.Ala768Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425689C>A | CA410738645 | SCARF2 | c.2287G>T (p.Ala763Ser) c.2300G>T (p.Arg767Leu) c.2302G>T (p.Ala768Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425689C= | CA2396362653 | SCARF2 | c.2287G= (p.Ala763=) c.2300G= (p.Arg767=) c.2302G= (p.Ala768=) | |
22 | g.20425689C>G | CA410738646 | SCARF2 | c.2287G>C (p.Ala763Pro) c.2300G>C (p.Arg767Pro) c.2302G>C (p.Ala768Pro) | |
22 | g.20425689C>T | CA410738647 | SCARF2 | c.2287G>A (p.Ala763Thr) c.2300G>A (p.Arg767His) c.2302G>A (p.Ala768Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425689dup | CA2573054973 | SCARF2 | c.2287dup (p.Ala763GlyfsTer11) c.2300dup (p.Ala768ArgfsTer10) c.2302dup (p.Ala768GlyfsTer11) | ClinVar dbSNP |
22 | g.20425690G>A | CA410738650 | SCARF2 | c.2286C>T (p.Ser762=) c.2299C>T (p.Arg767Cys) c.2301C>T (p.Ser767=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425690G>C | CA410738654 | SCARF2 | c.2286C>G (p.Ser762Arg) c.2299C>G (p.Arg767Gly) c.2301C>G (p.Ser767Arg) | gnomAD v4 |
22 | g.20425690G= | CA2396362655 | SCARF2 | c.2286C= (p.Ser762=) c.2299C= (p.Arg767=) c.2301C= (p.Ser767=) | |
22 | g.20425690G>T | CA410738652 | SCARF2 | c.2286C>A (p.Ser762Arg) c.2299C>A (p.Arg767Ser) c.2301C>A (p.Ser767Arg) | gnomAD v4 |
22 | g.20425691C>A | CA10112192 | SCARF2 | c.2285G>T (p.Ser762Ile) c.2298G>T (p.Lys766Asn) c.2300G>T (p.Ser767Ile) | dbSNP ExAC gnomAD v4 |
22 | g.20425691C= | CA2396362657 | SCARF2 | c.2285G= (p.Ser762=) c.2298G= (p.Lys766=) c.2300G= (p.Ser767=) | |
22 | g.20425691C>G | CA410738658 | SCARF2 | c.2285G>C (p.Ser762Thr) c.2298G>C (p.Lys766Asn) c.2300G>C (p.Ser767Thr) | |
22 | g.20425691C>T | CA410738660 | SCARF2 | c.2285G>A (p.Ser762Asn) c.2298G>A (p.Lys766=) c.2300G>A (p.Ser767Asn) | |
22 | g.20425692T>A | CA410738663 | SCARF2 | c.2284A>T (p.Ser762Cys) c.2297A>T (p.Lys766Met) c.2299A>T (p.Ser767Cys) | |
22 | g.20425692T>C | CA322182202 | SCARF2 | c.2284A>G (p.Ser762Gly) c.2297A>G (p.Lys766Arg) c.2299A>G (p.Ser767Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425692T>G | CA410738666 | SCARF2 | c.2284A>C (p.Ser762Arg) c.2297A>C (p.Lys766Thr) c.2299A>C (p.Ser767Arg) | |
22 | g.20425692T= | CA2396362659 | SCARF2 | c.2284A= (p.Ser762=) c.2297A= (p.Lys766=) c.2299A= (p.Ser767=) | |
22 | g.20425693T>A | CA410738669 | SCARF2 | c.2283A>T (p.Arg761=) c.2296A>T (p.Lys766Ter) c.2298A>T (p.Arg766=) | |
22 | g.20425693T>C | CA410738671 | SCARF2 | c.2283A>G (p.Arg761=) c.2296A>G (p.Lys766Glu) c.2298A>G (p.Arg766=) | dbSNP gnomAD v4 |
22 | g.20425693T>G | CA410738673 | SCARF2 | c.2283A>C (p.Arg761=) c.2296A>C (p.Lys766Gln) c.2298A>C (p.Arg766=) | |
22 | g.20425693T= | CA2396362661 | SCARF2 | c.2283A= (p.Arg761=) c.2296A= (p.Lys766=) c.2298A= (p.Arg766=) | |
22 | g.20425694C>A | CA410738676 | SCARF2 | c.2282G>T (p.Arg761Leu) c.2295G>T (p.Ala765=) c.2297G>T (p.Arg766Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425694C= | CA2396362663 | SCARF2 | c.2282G= (p.Arg761=) c.2295G= (p.Ala765=) c.2297G= (p.Arg766=) | |
22 | g.20425694C>G | CA410738678 | SCARF2 | c.2282G>C (p.Arg761Pro) c.2295G>C (p.Ala765=) c.2297G>C (p.Arg766Pro) | |
22 | g.20425694C>T | CA410738680 | SCARF2 | c.2282G>A (p.Arg761Gln) c.2295G>A (p.Ala765=) c.2297G>A (p.Arg766Gln) | gnomAD v4 |
22 | g.20425695G>A | CA410738683 | SCARF2 | c.2281C>T (p.Arg761Ter) c.2294C>T (p.Ala765Val) c.2296C>T (p.Arg766Ter) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425695G>C | CA410738687 | SCARF2 | c.2281C>G (p.Arg761Gly) c.2294C>G (p.Ala765Gly) c.2296C>G (p.Arg766Gly) | gnomAD v4 |
22 | g.20425695G= | CA2396362665 | SCARF2 | c.2281C= (p.Arg761=) c.2294C= (p.Ala765=) c.2296C= (p.Arg766=) | |
22 | g.20425695G>T | CA410738685 | SCARF2 | c.2281C>A (p.Arg761=) c.2294C>A (p.Ala765Glu) c.2296C>A (p.Arg766=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425696C>A | CA410738689 | SCARF2 | c.2280G>T (p.Pro760=) c.2293G>T (p.Ala765Ser) c.2295G>T (p.Pro765=) | |
22 | g.20425696C= | CA2396362667 | SCARF2 | c.2280G= (p.Pro760=) c.2293G= (p.Ala765=) c.2295G= (p.Pro765=) | |
22 | g.20425696C>G | CA410738691 | SCARF2 | c.2280G>C (p.Pro760=) c.2293G>C (p.Ala765Pro) c.2295G>C (p.Pro765=) | |
22 | g.20425696C>T | CA410738692 | SCARF2 | c.2280G>A (p.Pro760=) c.2293G>A (p.Ala765Thr) c.2295G>A (p.Pro765=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425697G>A | CA410738695 | SCARF2 | c.2279C>T (p.Pro760Leu) c.2292C>T (p.Pro764=) c.2294C>T (p.Pro765Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425697G>C | CA410738697 | SCARF2 | c.2279C>G (p.Pro760Arg) c.2292C>G (p.Pro764=) c.2294C>G (p.Pro765Arg) | |
22 | g.20425697G= | CA2396362670 | SCARF2 | c.2279C= (p.Pro760=) c.2292C= (p.Pro764=) c.2294C= (p.Pro765=) | |
22 | g.20425697G>T | CA410738699 | SCARF2 | c.2279C>A (p.Pro760Gln) c.2292C>A (p.Pro764=) c.2294C>A (p.Pro765Gln) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425701dup | CA2655397152 | SCARF2 | c.2279dup (p.Arg761AlafsTer13) c.2292dup (p.Ala765ArgfsTer13) c.2294dup (p.Arg766AlafsTer13) | gnomAD v4 |
22 | g.20425701del | CA2655397153 | SCARF2 | c.2279del (p.Pro760ArgfsTer?) c.2292del (p.Ala765ArgfsTer?) c.2294del (p.Pro765ArgfsTer?) | gnomAD v4 |
22 | g.20425698G>A | CA410738702 | SCARF2 | c.2278C>T (p.Pro760Ser) c.2291C>T (p.Pro764Leu) c.2293C>T (p.Pro765Ser) | gnomAD v4 |
22 | g.20425698G>C | CA410738704 | SCARF2 | c.2278C>G (p.Pro760Ala) c.2291C>G (p.Pro764Arg) c.2293C>G (p.Pro765Ala) | |
22 | g.20425698G= | CA2396362672 | SCARF2 | c.2278C= (p.Pro760=) c.2291C= (p.Pro764=) c.2293C= (p.Pro765=) | |
22 | g.20425698G>T | CA410738707 | SCARF2 | c.2278C>A (p.Pro760Thr) c.2291C>A (p.Pro764His) c.2293C>A (p.Pro765Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425699G>A | CA410738709 | SCARF2 | c.2277C>T (p.Pro759=) c.2290C>T (p.Pro764Ser) c.2292C>T (p.Pro764=) | gnomAD v4 |
22 | g.20425699G>C | CA410738711 | SCARF2 | c.2277C>G (p.Pro759=) c.2290C>G (p.Pro764Ala) c.2292C>G (p.Pro764=) | |
22 | g.20425699G>T | CA410738713 | SCARF2 | c.2277C>A (p.Pro759=) c.2290C>A (p.Pro764Thr) c.2292C>A (p.Pro764=) | |
22 | g.20425700G>A | CA410738720 | SCARF2 | c.2276C>T (p.Pro759Leu) c.2289C>T (p.Ser763=) c.2291C>T (p.Pro764Leu) | gnomAD v4 |
22 | g.20425700G>C | CA410738716 | SCARF2 | c.2276C>G (p.Pro759Arg) c.2289C>G (p.Ser763=) c.2291C>G (p.Pro764Arg) | |
22 | g.20425700G= | CA2396362674 | SCARF2 | c.2276C= (p.Pro759=) c.2289C= (p.Ser763=) c.2291C= (p.Pro764=) | |
22 | g.20425700G>T | CA410738718 | SCARF2 | c.2276C>A (p.Pro759His) c.2289C>A (p.Ser763=) c.2291C>A (p.Pro764His) | dbSNP gnomAD v4 |
22 | g.20425701G>A | CA410738723 | SCARF2 | c.2275C>T (p.Pro759Ser) c.2288C>T (p.Ser763Phe) c.2290C>T (p.Pro764Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425701G>C | CA410738725 | SCARF2 | c.2275C>G (p.Pro759Ala) c.2288C>G (p.Ser763Cys) c.2290C>G (p.Pro764Ala) | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425701G= | CA2396362675 | SCARF2 | c.2275C= (p.Pro759=) c.2288C= (p.Ser763=) c.2290C= (p.Pro764=) | |
22 | g.20425701G>T | CA410738728 | SCARF2 | c.2275C>A (p.Pro759Thr) c.2288C>A (p.Ser763Tyr) c.2290C>A (p.Pro764Thr) | dbSNP gnomAD v4 |
22 | g.20425702del | CA2655397154 | SCARF2 | c.2274del (p.Pro760ArgfsTer?) c.2287del (p.Ser763ProfsTer?) c.2289del (p.Pro765ArgfsTer?) | gnomAD v4 |
22 | g.20425702A= | CA2396362676 | SCARF2 | c.2274T= (p.Gly758=) c.2287T= (p.Ser763=) c.2289T= (p.Gly763=) | |
22 | g.20425702A>C | CA410738731 | SCARF2 | c.2274T>G (p.Gly758=) c.2287T>G (p.Ser763Ala) c.2289T>G (p.Gly763=) | |
22 | g.20425702A>G | CA410738733 | SCARF2 | c.2274T>C (p.Gly758=) c.2287T>C (p.Ser763Pro) c.2289T>C (p.Gly763=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425702A>T | CA410738735 | SCARF2 | c.2274T>A (p.Gly758=) c.2287T>A (p.Ser763Thr) c.2289T>A (p.Gly763=) | |
22 | g.20425703C>A | CA410738738 | SCARF2 | c.2273G>T (p.Gly758Val) c.2286G>T (p.Arg762=) c.2288G>T (p.Gly763Val) | gnomAD v4 |
22 | g.20425703C= | CA2396362677 | SCARF2 | c.2273G= (p.Gly758=) c.2286G= (p.Arg762=) c.2288G= (p.Gly763=) | |
22 | g.20425703C>G | CA410738740 | SCARF2 | c.2273G>C (p.Gly758Ala) c.2286G>C (p.Arg762=) c.2288G>C (p.Gly763Ala) | |
22 | g.20425703C>T | CA10112193 | SCARF2 | c.2273G>A (p.Gly758Asp) c.2286G>A (p.Arg762=) c.2288G>A (p.Gly763Asp) | dbSNP ExAC gnomAD v4 |
22 | g.20425704C>A | CA410738744 | SCARF2 | c.2272G>T (p.Gly758Cys) c.2285G>T (p.Arg762Leu) c.2287G>T (p.Gly763Cys) | gnomAD v4 |
22 | g.20425704C= | CA2396362678 | SCARF2 | c.2272G= (p.Gly758=) c.2285G= (p.Arg762=) c.2287G= (p.Gly763=) | |
22 | g.20425704C>G | CA410738746 | SCARF2 | c.2272G>C (p.Gly758Arg) c.2285G>C (p.Arg762Pro) c.2287G>C (p.Gly763Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425704C>T | CA410738748 | SCARF2 | c.2272G>A (p.Gly758Ser) c.2285G>A (p.Arg762Gln) c.2287G>A (p.Gly763Ser) | dbSNP gnomAD v4 |
22 | g.20425705G>A | CA410738750 | SCARF2 | c.2271C>T (p.Gly757=) c.2284C>T (p.Arg762Trp) c.2286C>T (p.Gly762=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425705G>C | CA410738752 | SCARF2 | c.2271C>G (p.Gly757=) c.2284C>G (p.Arg762Gly) c.2286C>G (p.Gly762=) | |
22 | g.20425705G= | CA2396362680 | SCARF2 | c.2271C= (p.Gly757=) c.2284C= (p.Arg762=) c.2286C= (p.Gly762=) | |
22 | g.20425705G>T | CA513694945 | SCARF2 | c.2271C>A (p.Gly757=) c.2284C>A (p.Arg762=) c.2286C>A (p.Gly762=) | gnomAD v4 |
22 | g.20425706C>A | CA410738755 | SCARF2 | c.2270G>T (p.Gly757Val) c.2283G>T (p.Arg761=) c.2285G>T (p.Gly762Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425706C= | CA2396362682 | SCARF2 | c.2270G= (p.Gly757=) c.2283G= (p.Arg761=) c.2285G= (p.Gly762=) | |
22 | g.20425706C>G | CA410738759 | SCARF2 | c.2270G>C (p.Gly757Ala) c.2283G>C (p.Arg761=) c.2285G>C (p.Gly762Ala) | |
22 | g.20425706C>T | CA410738757 | SCARF2 | c.2270G>A (p.Gly757Asp) c.2283G>A (p.Arg761=) c.2285G>A (p.Gly762Asp) | gnomAD v4 |
22 | g.20425707C>A | CA410738762 | SCARF2 | c.2269G>T (p.Gly757Cys) c.2282G>T (p.Arg761Leu) c.2284G>T (p.Gly762Cys) | gnomAD v4 |
22 | g.20425707C>G | CA410738764 | SCARF2 | c.2269G>C (p.Gly757Arg) c.2282G>C (p.Arg761Pro) c.2284G>C (p.Gly762Arg) | |
22 | g.20425707C>T | CA410738767 | SCARF2 | c.2269G>A (p.Gly757Ser) c.2282G>A (p.Arg761Gln) c.2284G>A (p.Gly762Ser) | gnomAD v4 |
22 | g.20425708G>A | CA410738770 | SCARF2 | c.2268C>T (p.Ala756=) c.2281C>T (p.Arg761Trp) c.2283C>T (p.Ala761=) | gnomAD v4 |
22 | g.20425708G>C | CA410738771 | SCARF2 | c.2268C>G (p.Ala756=) c.2281C>G (p.Arg761Gly) c.2283C>G (p.Ala761=) | gnomAD v4 |
22 | g.20425708G>T | CA513694950 | SCARF2 | c.2268C>A (p.Ala756=) c.2281C>A (p.Arg761=) c.2283C>A (p.Ala761=) | |
22 | g.20425709G>A | CA410738774 | SCARF2 | c.2267C>T (p.Ala756Val) c.2280C>T (p.Arg760=) c.2282C>T (p.Ala761Val) | |
22 | g.20425709G>C | CA410738776 | SCARF2 | c.2267C>G (p.Ala756Gly) c.2280C>G (p.Arg760=) c.2282C>G (p.Ala761Gly) | |
22 | g.20425709G>T | CA410738777 | SCARF2 | c.2267C>A (p.Ala756Asp) c.2280C>A (p.Arg760=) c.2282C>A (p.Ala761Asp) | gnomAD v4 |
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 |