Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.123256026G>ACA312161AFG2Ac.2351G>A (p.Arg784Gln)
c.2420G>A (p.Arg807Gln)
c.2348G>A (p.Arg783Gln)
c.2423G>A (p.Arg808Gln)
c.2129G>A (p.Arg710Gln)
c.1967G>A (p.Arg656Gln)
n.2509G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.123256026G>CCA358230525AFG2Ac.2351G>C (p.Arg784Pro)
c.2420G>C (p.Arg807Pro)
c.2348G>C (p.Arg783Pro)
c.2423G>C (p.Arg808Pro)
c.2129G>C (p.Arg710Pro)
c.1967G>C (p.Arg656Pro)
n.2509G>C
4g.123256026G=CA1490644411AFG2Ac.2351G= (p.Arg784=)
c.2420G= (p.Arg807=)
c.2348G= (p.Arg783=)
c.2423G= (p.Arg808=)
c.2129G= (p.Arg710=)
c.1967G= (p.Arg656=)
n.2509G=
4g.123256026G>TCA358230526AFG2Ac.2351G>T (p.Arg784Leu)
c.2420G>T (p.Arg807Leu)
c.2348G>T (p.Arg783Leu)
c.2423G>T (p.Arg808Leu)
c.2129G>T (p.Arg710Leu)
c.1967G>T (p.Arg656Leu)
n.2509G>T
4g.123256027G>ACA441237351AFG2Ac.2352G>A (p.Arg784=)
c.2421G>A (p.Arg807=)
c.2349G>A (p.Arg783=)
c.2424G>A (p.Arg808=)
c.2130G>A (p.Arg710=)
c.1968G>A (p.Arg656=)
n.2510G>A
4g.123256027G>CCA441237352AFG2Ac.2352G>C (p.Arg784=)
c.2421G>C (p.Arg807=)
c.2349G>C (p.Arg783=)
c.2424G>C (p.Arg808=)
c.2130G>C (p.Arg710=)
c.1968G>C (p.Arg656=)
n.2510G>C
4g.123256027G>TCA441237353AFG2Ac.2352G>T (p.Arg784=)
c.2421G>T (p.Arg807=)
c.2349G>T (p.Arg783=)
c.2424G>T (p.Arg808=)
c.2130G>T (p.Arg710=)
c.1968G>T (p.Arg656=)
n.2510G>T
4g.123256028C>ACA358230527AFG2Ac.2353C>A (p.Pro785Thr)
c.2422C>A (p.Pro808Thr)
c.2350C>A (p.Pro784Thr)
c.2425C>A (p.Pro809Thr)
c.2131C>A (p.Pro711Thr)
c.1969C>A (p.Pro657Thr)
n.2511C>A
4g.123256028C=CA1490644415AFG2Ac.2353C= (p.Pro785=)
c.2422C= (p.Pro808=)
c.2350C= (p.Pro784=)
c.2425C= (p.Pro809=)
c.2131C= (p.Pro711=)
c.1969C= (p.Pro657=)
n.2511C=
4g.123256028C>GCA358230528AFG2Ac.2353C>G (p.Pro785Ala)
c.2422C>G (p.Pro808Ala)
c.2350C>G (p.Pro784Ala)
c.2425C>G (p.Pro809Ala)
c.2131C>G (p.Pro711Ala)
c.1969C>G (p.Pro657Ala)
n.2511C>G
4g.123256028C>TCA3070723AFG2Ac.2353C>T (p.Pro785Ser)
c.2422C>T (p.Pro808Ser)
c.2350C>T (p.Pro784Ser)
c.2425C>T (p.Pro809Ser)
c.2131C>T (p.Pro711Ser)
c.1969C>T (p.Pro657Ser)
n.2511C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.123256029C>ACA358230531AFG2Ac.2354C>A (p.Pro785His)
c.2423C>A (p.Pro808His)
c.2351C>A (p.Pro784His)
c.2426C>A (p.Pro809His)
c.2132C>A (p.Pro711His)
c.1970C>A (p.Pro657His)
n.2512C>A
4g.123256029C>GCA358230530AFG2Ac.2354C>G (p.Pro785Arg)
c.2423C>G (p.Pro808Arg)
c.2351C>G (p.Pro784Arg)
c.2426C>G (p.Pro809Arg)
c.2132C>G (p.Pro711Arg)
c.1970C>G (p.Pro657Arg)
n.2512C>G
 gnomAD v4
4g.123256029C>TCA358230529AFG2Ac.2354C>T (p.Pro785Leu)
c.2423C>T (p.Pro808Leu)
c.2351C>T (p.Pro784Leu)
c.2426C>T (p.Pro809Leu)
c.2132C>T (p.Pro711Leu)
c.1970C>T (p.Pro657Leu)
n.2512C>T
4g.123256030T>ACA441237356AFG2Ac.2355T>A (p.Pro785=)
c.2424T>A (p.Pro808=)
c.2352T>A (p.Pro784=)
c.2427T>A (p.Pro809=)
c.2133T>A (p.Pro711=)
c.1971T>A (p.Pro657=)
n.2513T>A
4g.123256030T>CCA441237355AFG2Ac.2355T>C (p.Pro785=)
c.2424T>C (p.Pro808=)
c.2352T>C (p.Pro784=)
c.2427T>C (p.Pro809=)
c.2133T>C (p.Pro711=)
c.1971T>C (p.Pro657=)
n.2513T>C
4g.123256030T>GCA441237354AFG2Ac.2355T>G (p.Pro785=)
c.2424T>G (p.Pro808=)
c.2352T>G (p.Pro784=)
c.2427T>G (p.Pro809=)
c.2133T>G (p.Pro711=)
c.1971T>G (p.Pro657=)
n.2513T>G
4g.123256031G>ACA358230532AFG2Ac.2356G>A (p.Gly786Arg)
c.2425G>A (p.Gly809Arg)
c.2353G>A (p.Gly785Arg)
c.2428G>A (p.Gly810Arg)
c.2134G>A (p.Gly712Arg)
c.1972G>A (p.Gly658Arg)
n.2514G>A
4g.123256031G>CCA358230533AFG2Ac.2356G>C (p.Gly786Arg)
c.2425G>C (p.Gly809Arg)
c.2353G>C (p.Gly785Arg)
c.2428G>C (p.Gly810Arg)
c.2134G>C (p.Gly712Arg)
c.1972G>C (p.Gly658Arg)
n.2514G>C
4g.123256031G>TCA358230534AFG2Ac.2356G>T (p.Gly786Ter)
c.2425G>T (p.Gly809Ter)
c.2353G>T (p.Gly785Ter)
c.2428G>T (p.Gly810Ter)
c.2134G>T (p.Gly712Ter)
c.1972G>T (p.Gly658Ter)
n.2514G>T
4g.123256032G>ACA358230535AFG2Ac.2357G>A (p.Gly786Glu)
c.2426G>A (p.Gly809Glu)
c.2354G>A (p.Gly785Glu)
c.2429G>A (p.Gly810Glu)
c.2135G>A (p.Gly712Glu)
c.1973G>A (p.Gly658Glu)
n.2515G>A
4g.123256032G>CCA358230536AFG2Ac.2357G>C (p.Gly786Ala)
c.2426G>C (p.Gly809Ala)
c.2354G>C (p.Gly785Ala)
c.2429G>C (p.Gly810Ala)
c.2135G>C (p.Gly712Ala)
c.1973G>C (p.Gly658Ala)
n.2515G>C
4g.123256032G>TCA358230537AFG2Ac.2357G>T (p.Gly786Val)
c.2426G>T (p.Gly809Val)
c.2354G>T (p.Gly785Val)
c.2429G>T (p.Gly810Val)
c.2135G>T (p.Gly712Val)
c.1973G>T (p.Gly658Val)
n.2515G>T
4g.123256033A>CCA441237357AFG2Ac.2358A>C (p.Gly786=)
c.2427A>C (p.Gly809=)
c.2355A>C (p.Gly785=)
c.2430A>C (p.Gly810=)
c.2136A>C (p.Gly712=)
c.1974A>C (p.Gly658=)
n.2516A>C
4g.123256033A>GCA441237358AFG2Ac.2358A>G (p.Gly786=)
c.2427A>G (p.Gly809=)
c.2355A>G (p.Gly785=)
c.2430A>G (p.Gly810=)
c.2136A>G (p.Gly712=)
c.1974A>G (p.Gly658=)
n.2516A>G
4g.123256033A>TCA441237359AFG2Ac.2358A>T (p.Gly786=)
c.2427A>T (p.Gly809=)
c.2355A>T (p.Gly785=)
c.2430A>T (p.Gly810=)
c.2136A>T (p.Gly712=)
c.1974A>T (p.Gly658=)
n.2516A>T
4g.123256034A>CCA441237360AFG2Ac.2359A>C (p.Arg787=)
c.2428A>C (p.Arg810=)
c.2356A>C (p.Arg786=)
c.2431A>C (p.Arg811=)
c.2137A>C (p.Arg713=)
c.1975A>C (p.Arg659=)
n.2517A>C
4g.123256034A>GCA358230538AFG2Ac.2359A>G (p.Arg787Gly)
c.2428A>G (p.Arg810Gly)
c.2356A>G (p.Arg786Gly)
c.2431A>G (p.Arg811Gly)
c.2137A>G (p.Arg713Gly)
c.1975A>G (p.Arg659Gly)
n.2517A>G
4g.123256034A>TCA358230539AFG2Ac.2359A>T (p.Arg787Ter)
c.2428A>T (p.Arg810Ter)
c.2356A>T (p.Arg786Ter)
c.2431A>T (p.Arg811Ter)
c.2137A>T (p.Arg713Ter)
c.1975A>T (p.Arg659Ter)
n.2517A>T
4g.123256035G>ACA358230540AFG2Ac.2360G>A (p.Arg787Lys)
c.2429G>A (p.Arg810Lys)
c.2357G>A (p.Arg786Lys)
c.2432G>A (p.Arg811Lys)
c.2138G>A (p.Arg713Lys)
c.1976G>A (p.Arg659Lys)
n.2518G>A
 COSMIC
4g.123256035G>CCA358230541AFG2Ac.2360G>C (p.Arg787Thr)
c.2429G>C (p.Arg810Thr)
c.2357G>C (p.Arg786Thr)
c.2432G>C (p.Arg811Thr)
c.2138G>C (p.Arg713Thr)
c.1976G>C (p.Arg659Thr)
n.2518G>C
4g.123256035G>TCA358230542AFG2Ac.2360G>T (p.Arg787Ile)
c.2429G>T (p.Arg810Ile)
c.2357G>T (p.Arg786Ile)
c.2432G>T (p.Arg811Ile)
c.2138G>T (p.Arg713Ile)
c.1976G>T (p.Arg659Ile)
n.2518G>T
4g.123256035_123256045delinsGAATTGATAGACA1490644418AFG2Ac.2360_2370delinsGAATTGATAGA (p.Arg787=)
c.2429_2439delinsGAATTGATAGA (p.Arg810=)
c.2357_2367delinsGAATTGATAGA (p.Arg786=)
c.2432_2442delinsGAATTGATAGA (p.Arg811=)
c.2138_2148delinsGAATTGATAGA (p.Arg713=)
c.1976_1986delinsGAATTGATAGA (p.Arg659=)
n.2518_2528delinsGAATTGATAGA
4g.123256036A>CCA358230543AFG2Ac.2361A>C (p.Arg787Ser)
c.2430A>C (p.Arg810Ser)
c.2358A>C (p.Arg786Ser)
c.2433A>C (p.Arg811Ser)
c.2139A>C (p.Arg713Ser)
c.1977A>C (p.Arg659Ser)
n.2519A>C
4g.123256036A>GCA441237361AFG2Ac.2361A>G (p.Arg787=)
c.2430A>G (p.Arg810=)
c.2358A>G (p.Arg786=)
c.2433A>G (p.Arg811=)
c.2139A>G (p.Arg713=)
c.1977A>G (p.Arg659=)
n.2519A>G
 ClinVar
4g.123256036A>TCA358230544AFG2Ac.2361A>T (p.Arg787Ser)
c.2430A>T (p.Arg810Ser)
c.2358A>T (p.Arg786Ser)
c.2433A>T (p.Arg811Ser)
c.2139A>T (p.Arg713Ser)
c.1977A>T (p.Arg659Ser)
n.2519A>T
4g.123256037_123256046delCA312157AFG2Ac.2362_2371del (p.Ile788SerfsTer?)
c.2431_2440del (p.Ile811SerfsTer?)
c.2359_2368del (p.Ile787SerfsTer?)
c.2434_2443del (p.Ile812SerfsTer?)
c.2140_2149del (p.Ile714SerfsTer?)
c.1978_1987del (p.Ile660SerfsTer?)
n.2520_2529del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.123256037A=CA1490644423AFG2Ac.2362A= (p.Ile788=)
c.2431A= (p.Ile811=)
c.2359A= (p.Ile787=)
c.2434A= (p.Ile812=)
c.2140A= (p.Ile714=)
c.1978A= (p.Ile660=)
n.2520A=
4g.123256037A>CCA358230547AFG2Ac.2362A>C (p.Ile788Leu)
c.2431A>C (p.Ile811Leu)
c.2359A>C (p.Ile787Leu)
c.2434A>C (p.Ile812Leu)
c.2140A>C (p.Ile714Leu)
c.1978A>C (p.Ile660Leu)
n.2520A>C
4g.123256037A>GCA358230546AFG2Ac.2362A>G (p.Ile788Val)
c.2431A>G (p.Ile811Val)
c.2359A>G (p.Ile787Val)
c.2434A>G (p.Ile812Val)
c.2140A>G (p.Ile714Val)
c.1978A>G (p.Ile660Val)
n.2520A>G
 dbSNP gnomAD v2 gnomAD v4
4g.123256037A>TCA358230545AFG2Ac.2362A>T (p.Ile788Phe)
c.2431A>T (p.Ile811Phe)
c.2359A>T (p.Ile787Phe)
c.2434A>T (p.Ile812Phe)
c.2140A>T (p.Ile714Phe)
c.1978A>T (p.Ile660Phe)
n.2520A>T
4g.123256038T>ACA358230548AFG2Ac.2363T>A (p.Ile788Asn)
c.2432T>A (p.Ile811Asn)
c.2360T>A (p.Ile787Asn)
c.2435T>A (p.Ile812Asn)
c.2141T>A (p.Ile714Asn)
c.1979T>A (p.Ile660Asn)
n.2521T>A
4g.123256038T>CCA358230549AFG2Ac.2363T>C (p.Ile788Thr)
c.2432T>C (p.Ile811Thr)
c.2360T>C (p.Ile787Thr)
c.2435T>C (p.Ile812Thr)
c.2141T>C (p.Ile714Thr)
c.1979T>C (p.Ile660Thr)
n.2521T>C
4g.123256038T>GCA358230550AFG2Ac.2363T>G (p.Ile788Ser)
c.2432T>G (p.Ile811Ser)
c.2360T>G (p.Ile787Ser)
c.2435T>G (p.Ile812Ser)
c.2141T>G (p.Ile714Ser)
c.1979T>G (p.Ile660Ser)
n.2521T>G
4g.123256039T>ACA441237362AFG2Ac.2364T>A (p.Ile788=)
c.2433T>A (p.Ile811=)
c.2361T>A (p.Ile787=)
c.2436T>A (p.Ile812=)
c.2142T>A (p.Ile714=)
c.1980T>A (p.Ile660=)
n.2522T>A
4g.123256039T>CCA441237363AFG2Ac.2364T>C (p.Ile788=)
c.2433T>C (p.Ile811=)
c.2361T>C (p.Ile787=)
c.2436T>C (p.Ile812=)
c.2142T>C (p.Ile714=)
c.1980T>C (p.Ile660=)
n.2522T>C
4g.123256039T>GCA358230551AFG2Ac.2364T>G (p.Ile788Met)
c.2433T>G (p.Ile811Met)
c.2361T>G (p.Ile787Met)
c.2436T>G (p.Ile812Met)
c.2142T>G (p.Ile714Met)
c.1980T>G (p.Ile660Met)
n.2522T>G
4g.123256040G>ACA358230552AFG2Ac.2365G>A (p.Asp789Asn)
c.2434G>A (p.Asp812Asn)
c.2362G>A (p.Asp788Asn)
c.2437G>A (p.Asp813Asn)
c.2143G>A (p.Asp715Asn)
c.1981G>A (p.Asp661Asn)
n.2523G>A
4g.123256040G>CCA358230553AFG2Ac.2365G>C (p.Asp789His)
c.2434G>C (p.Asp812His)
c.2362G>C (p.Asp788His)
c.2437G>C (p.Asp813His)
c.2143G>C (p.Asp715His)
c.1981G>C (p.Asp661His)
n.2523G>C
4g.123256040G>TCA358230554AFG2Ac.2365G>T (p.Asp789Tyr)
c.2434G>T (p.Asp812Tyr)
c.2362G>T (p.Asp788Tyr)
c.2437G>T (p.Asp813Tyr)
c.2143G>T (p.Asp715Tyr)
c.1981G>T (p.Asp661Tyr)
n.2523G>T
4g.123256041A=CA1490644426AFG2Ac.2366A= (p.Asp789=)
c.2435A= (p.Asp812=)
c.2363A= (p.Asp788=)
c.2438A= (p.Asp813=)
c.2144A= (p.Asp715=)
c.1982A= (p.Asp661=)
n.2524A=
4g.123256041A>CCA358230555AFG2Ac.2366A>C (p.Asp789Ala)
c.2435A>C (p.Asp812Ala)
c.2363A>C (p.Asp788Ala)
c.2438A>C (p.Asp813Ala)
c.2144A>C (p.Asp715Ala)
c.1982A>C (p.Asp661Ala)
n.2524A>C
4g.123256041A>GCA3070724AFG2Ac.2366A>G (p.Asp789Gly)
c.2435A>G (p.Asp812Gly)
c.2363A>G (p.Asp788Gly)
c.2438A>G (p.Asp813Gly)
c.2144A>G (p.Asp715Gly)
c.1982A>G (p.Asp661Gly)
n.2524A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.123256041A>TCA358230556AFG2Ac.2366A>T (p.Asp789Val)
c.2435A>T (p.Asp812Val)
c.2363A>T (p.Asp788Val)
c.2438A>T (p.Asp813Val)
c.2144A>T (p.Asp715Val)
c.1982A>T (p.Asp661Val)
n.2524A>T
 gnomAD v4
4g.123256042T>ACA358230557AFG2Ac.2367T>A (p.Asp789Glu)
c.2436T>A (p.Asp812Glu)
c.2364T>A (p.Asp788Glu)
c.2439T>A (p.Asp813Glu)
c.2145T>A (p.Asp715Glu)
c.1983T>A (p.Asp661Glu)
n.2525T>A
4g.123256042T>CCA441237364AFG2Ac.2367T>C (p.Asp789=)
c.2436T>C (p.Asp812=)
c.2364T>C (p.Asp788=)
c.2439T>C (p.Asp813=)
c.2145T>C (p.Asp715=)
c.1983T>C (p.Asp661=)
n.2525T>C
 gnomAD v4
4g.123256042T>GCA358230558AFG2Ac.2367T>G (p.Asp789Glu)
c.2436T>G (p.Asp812Glu)
c.2364T>G (p.Asp788Glu)
c.2439T>G (p.Asp813Glu)
c.2145T>G (p.Asp715Glu)
c.1983T>G (p.Asp661Glu)
n.2525T>G
4g.123256043A=CA1490644429AFG2Ac.2368A= (p.Arg790=)
c.2437A= (p.Arg813=)
c.2365A= (p.Arg789=)
c.2440A= (p.Arg814=)
c.2146A= (p.Arg716=)
c.1984A= (p.Arg662=)
n.2526A=
4g.123256043A>CCA441237365AFG2Ac.2368A>C (p.Arg790=)
c.2437A>C (p.Arg813=)
c.2365A>C (p.Arg789=)
c.2440A>C (p.Arg814=)
c.2146A>C (p.Arg716=)
c.1984A>C (p.Arg662=)
n.2526A>C
4g.123256043A>GCA105289934AFG2Ac.2368A>G (p.Arg790Gly)
c.2437A>G (p.Arg813Gly)
c.2365A>G (p.Arg789Gly)
c.2440A>G (p.Arg814Gly)
c.2146A>G (p.Arg716Gly)
c.1984A>G (p.Arg662Gly)
n.2526A>G
 dbSNP
4g.123256043A>TCA358230559AFG2Ac.2368A>T (p.Arg790Ter)
c.2437A>T (p.Arg813Ter)
c.2365A>T (p.Arg789Ter)
c.2440A>T (p.Arg814Ter)
c.2146A>T (p.Arg716Ter)
c.1984A>T (p.Arg662Ter)
n.2526A>T
4g.123256044G>ACA358230562AFG2Ac.2369G>A (p.Arg790Lys)
c.2438G>A (p.Arg813Lys)
c.2366G>A (p.Arg789Lys)
c.2441G>A (p.Arg814Lys)
c.2147G>A (p.Arg716Lys)
c.1985G>A (p.Arg662Lys)
n.2527G>A
4g.123256044G>CCA358230560AFG2Ac.2369G>C (p.Arg790Thr)
c.2438G>C (p.Arg813Thr)
c.2366G>C (p.Arg789Thr)
c.2441G>C (p.Arg814Thr)
c.2147G>C (p.Arg716Thr)
c.1985G>C (p.Arg662Thr)
n.2527G>C
 dbSNP gnomAD v2
4g.123256044G=CA1490644432AFG2Ac.2369G= (p.Arg790=)
c.2438G= (p.Arg813=)
c.2366G= (p.Arg789=)
c.2441G= (p.Arg814=)
c.2147G= (p.Arg716=)
c.1985G= (p.Arg662=)
n.2527G=
4g.123256044G>TCA358230561AFG2Ac.2369G>T (p.Arg790Ile)
c.2438G>T (p.Arg813Ile)
c.2366G>T (p.Arg789Ile)
c.2441G>T (p.Arg814Ile)
c.2147G>T (p.Arg716Ile)
c.1985G>T (p.Arg662Ile)
n.2527G>T
4g.123256045A=CA1490644434AFG2Ac.2370A= (p.Arg790=)
c.2439A= (p.Arg813=)
c.2367A= (p.Arg789=)
c.2442A= (p.Arg814=)
c.2148A= (p.Arg716=)
c.1986A= (p.Arg662=)
n.2528A=
4g.123256045A>CCA358230563AFG2Ac.2370A>C (p.Arg790Ser)
c.2439A>C (p.Arg813Ser)
c.2367A>C (p.Arg789Ser)
c.2442A>C (p.Arg814Ser)
c.2148A>C (p.Arg716Ser)
c.1986A>C (p.Arg662Ser)
n.2528A>C
 gnomAD v4
4g.123256045A>GCA441237366AFG2Ac.2370A>G (p.Arg790=)
c.2439A>G (p.Arg813=)
c.2367A>G (p.Arg789=)
c.2442A>G (p.Arg814=)
c.2148A>G (p.Arg716=)
c.1986A>G (p.Arg662=)
n.2528A>G
 dbSNP gnomAD v2 gnomAD v4
4g.123256045A>TCA358230564AFG2Ac.2370A>T (p.Arg790Ser)
c.2439A>T (p.Arg813Ser)
c.2367A>T (p.Arg789Ser)
c.2442A>T (p.Arg814Ser)
c.2148A>T (p.Arg716Ser)
c.1986A>T (p.Arg662Ser)
n.2528A>T
4g.123256046A>CCA358230565AFG2Ac.2371A>C (p.Ile791Leu)
c.2440A>C (p.Ile814Leu)
c.2368A>C (p.Ile790Leu)
c.2443A>C (p.Ile815Leu)
c.2149A>C (p.Ile717Leu)
c.1987A>C (p.Ile663Leu)
n.2529A>C
4g.123256046A>GCA358230566AFG2Ac.2371A>G (p.Ile791Val)
c.2440A>G (p.Ile814Val)
c.2368A>G (p.Ile790Val)
c.2443A>G (p.Ile815Val)
c.2149A>G (p.Ile717Val)
c.1987A>G (p.Ile663Val)
n.2529A>G
4g.123256046A>TCA358230567AFG2Ac.2371A>T (p.Ile791Phe)
c.2440A>T (p.Ile814Phe)
c.2368A>T (p.Ile790Phe)
c.2443A>T (p.Ile815Phe)
c.2149A>T (p.Ile717Phe)
c.1987A>T (p.Ile663Phe)
n.2529A>T
4g.123256047T>ACA358230568AFG2Ac.2372T>A (p.Ile791Asn)
c.2441T>A (p.Ile814Asn)
c.2369T>A (p.Ile790Asn)
c.2444T>A (p.Ile815Asn)
c.2150T>A (p.Ile717Asn)
c.1988T>A (p.Ile663Asn)
n.2530T>A
4g.123256047T>CCA358230569AFG2Ac.2372T>C (p.Ile791Thr)
c.2441T>C (p.Ile814Thr)
c.2369T>C (p.Ile790Thr)
c.2444T>C (p.Ile815Thr)
c.2150T>C (p.Ile717Thr)
c.1988T>C (p.Ile663Thr)
n.2530T>C
4g.123256047T>GCA358230570AFG2Ac.2372T>G (p.Ile791Ser)
c.2441T>G (p.Ile814Ser)
c.2369T>G (p.Ile790Ser)
c.2444T>G (p.Ile815Ser)
c.2150T>G (p.Ile717Ser)
c.1988T>G (p.Ile663Ser)
n.2530T>G
4g.123256048C>ACA441237368AFG2Ac.2373C>A (p.Ile791=)
c.2442C>A (p.Ile814=)
c.2370C>A (p.Ile790=)
c.2445C>A (p.Ile815=)
c.2151C>A (p.Ile717=)
c.1989C>A (p.Ile663=)
n.2531C>A
4g.123256048C=CA1490644436AFG2Ac.2373C= (p.Ile791=)
c.2442C= (p.Ile814=)
c.2370C= (p.Ile790=)
c.2445C= (p.Ile815=)
c.2151C= (p.Ile717=)
c.1989C= (p.Ile663=)
n.2531C=
4g.123256048C>GCA358230571AFG2Ac.2373C>G (p.Ile791Met)
c.2442C>G (p.Ile814Met)
c.2370C>G (p.Ile790Met)
c.2445C>G (p.Ile815Met)
c.2151C>G (p.Ile717Met)
c.1989C>G (p.Ile663Met)
n.2531C>G
 gnomAD v4
4g.123256048C>TCA441237367AFG2Ac.2373C>T (p.Ile791=)
c.2442C>T (p.Ile814=)
c.2370C>T (p.Ile790=)
c.2445C>T (p.Ile815=)
c.2151C>T (p.Ile717=)
c.1989C>T (p.Ile663=)
n.2531C>T
 dbSNP
4g.123256049A=CA1490644438AFG2Ac.2374A= (p.Ile792=)
c.2443A= (p.Ile815=)
c.2371A= (p.Ile791=)
c.2446A= (p.Ile816=)
c.2152A= (p.Ile718=)
c.1990A= (p.Ile664=)
n.2532A=
4g.123256049A>CCA358230572AFG2Ac.2374A>C (p.Ile792Leu)
c.2443A>C (p.Ile815Leu)
c.2371A>C (p.Ile791Leu)
c.2446A>C (p.Ile816Leu)
c.2152A>C (p.Ile718Leu)
c.1990A>C (p.Ile664Leu)
n.2532A>C
4g.123256049A>GCA3070725AFG2Ac.2374A>G (p.Ile792Val)
c.2443A>G (p.Ile815Val)
c.2371A>G (p.Ile791Val)
c.2446A>G (p.Ile816Val)
c.2152A>G (p.Ile718Val)
c.1990A>G (p.Ile664Val)
n.2532A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.123256049A>TCA358230573AFG2Ac.2374A>T (p.Ile792Phe)
c.2443A>T (p.Ile815Phe)
c.2371A>T (p.Ile791Phe)
c.2446A>T (p.Ile816Phe)
c.2152A>T (p.Ile718Phe)
c.1990A>T (p.Ile664Phe)
n.2532A>T
4g.123256050T>ACA358230574AFG2Ac.2375T>A (p.Ile792Asn)
c.2444T>A (p.Ile815Asn)
c.2372T>A (p.Ile791Asn)
c.2447T>A (p.Ile816Asn)
c.2153T>A (p.Ile718Asn)
c.1991T>A (p.Ile664Asn)
n.2533T>A
4g.123256050T>CCA358230576AFG2Ac.2375T>C (p.Ile792Thr)
c.2444T>C (p.Ile815Thr)
c.2372T>C (p.Ile791Thr)
c.2447T>C (p.Ile816Thr)
c.2153T>C (p.Ile718Thr)
c.1991T>C (p.Ile664Thr)
n.2533T>C
4g.123256050T>GCA358230575AFG2Ac.2375T>G (p.Ile792Ser)
c.2444T>G (p.Ile815Ser)
c.2372T>G (p.Ile791Ser)
c.2447T>G (p.Ile816Ser)
c.2153T>G (p.Ile718Ser)
c.1991T>G (p.Ile664Ser)
n.2533T>G
4g.123256051C>ACA441237370AFG2Ac.2376C>A (p.Ile792=)
c.2445C>A (p.Ile815=)
c.2373C>A (p.Ile791=)
c.2448C>A (p.Ile816=)
c.2154C>A (p.Ile718=)
c.1992C>A (p.Ile664=)
n.2534C>A
4g.123256051C=CA1490644444AFG2Ac.2376C= (p.Ile792=)
c.2445C= (p.Ile815=)
c.2373C= (p.Ile791=)
c.2448C= (p.Ile816=)
c.2154C= (p.Ile718=)
c.1992C= (p.Ile664=)
n.2534C=
4g.123256051C>GCA358230577AFG2Ac.2376C>G (p.Ile792Met)
c.2445C>G (p.Ile815Met)
c.2373C>G (p.Ile791Met)
c.2448C>G (p.Ile816Met)
c.2154C>G (p.Ile718Met)
c.1992C>G (p.Ile664Met)
n.2534C>G
4g.123256051C>TCA441237371AFG2Ac.2376C>T (p.Ile792=)
c.2445C>T (p.Ile815=)
c.2373C>T (p.Ile791=)
c.2448C>T (p.Ile816=)
c.2154C>T (p.Ile718=)
c.1992C>T (p.Ile664=)
n.2534C>T
 dbSNP
4g.123256052T>ACA358230580AFG2Ac.2377T>A (p.Tyr793Asn)
c.2446T>A (p.Tyr816Asn)
c.2374T>A (p.Tyr792Asn)
c.2449T>A (p.Tyr817Asn)
c.2155T>A (p.Tyr719Asn)
c.1993T>A (p.Tyr665Asn)
n.2535T>A
4g.123256052T>CCA358230578AFG2Ac.2377T>C (p.Tyr793His)
c.2446T>C (p.Tyr816His)
c.2374T>C (p.Tyr792His)
c.2449T>C (p.Tyr817His)
c.2155T>C (p.Tyr719His)
c.1993T>C (p.Tyr665His)
n.2535T>C
4g.123256052T>GCA358230579AFG2Ac.2377T>G (p.Tyr793Asp)
c.2446T>G (p.Tyr816Asp)
c.2374T>G (p.Tyr792Asp)
c.2449T>G (p.Tyr817Asp)
c.2155T>G (p.Tyr719Asp)
c.1993T>G (p.Tyr665Asp)
n.2535T>G
4g.123256053A=CA1490644446AFG2Ac.2378A= (p.Tyr793=)
c.2447A= (p.Tyr816=)
c.2375A= (p.Tyr792=)
c.2450A= (p.Tyr817=)
c.2156A= (p.Tyr719=)
c.1994A= (p.Tyr665=)
n.2536A=
4g.123256053A>CCA358230581AFG2Ac.2378A>C (p.Tyr793Ser)
c.2447A>C (p.Tyr816Ser)
c.2375A>C (p.Tyr792Ser)
c.2450A>C (p.Tyr817Ser)
c.2156A>C (p.Tyr719Ser)
c.1994A>C (p.Tyr665Ser)
n.2536A>C
4g.123256053A>GCA358230582AFG2Ac.2378A>G (p.Tyr793Cys)
c.2447A>G (p.Tyr816Cys)
c.2375A>G (p.Tyr792Cys)
c.2450A>G (p.Tyr817Cys)
c.2156A>G (p.Tyr719Cys)
c.1994A>G (p.Tyr665Cys)
n.2536A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.123256053A>TCA358230583AFG2Ac.2378A>T (p.Tyr793Phe)
c.2447A>T (p.Tyr816Phe)
c.2375A>T (p.Tyr792Phe)
c.2450A>T (p.Tyr817Phe)
c.2156A>T (p.Tyr719Phe)
c.1994A>T (p.Tyr665Phe)
n.2536A>T
4g.123256054T>ACA358230584AFG2Ac.2379T>A (p.Tyr793Ter)
c.2448T>A (p.Tyr816Ter)
c.2376T>A (p.Tyr792Ter)
c.2451T>A (p.Tyr817Ter)
c.2157T>A (p.Tyr719Ter)
c.1995T>A (p.Tyr665Ter)
n.2537T>A
 dbSNP
4g.123256054T>CCA105289935AFG2Ac.2379T>C (p.Tyr793=)
c.2448T>C (p.Tyr816=)
c.2376T>C (p.Tyr792=)
c.2451T>C (p.Tyr817=)
c.2157T>C (p.Tyr719=)
c.1995T>C (p.Tyr665=)
n.2537T>C
 dbSNP gnomAD v2
4g.123256054T>GCA358230585AFG2Ac.2379T>G (p.Tyr793Ter)
c.2448T>G (p.Tyr816Ter)
c.2376T>G (p.Tyr792Ter)
c.2451T>G (p.Tyr817Ter)
c.2157T>G (p.Tyr719Ter)
c.1995T>G (p.Tyr665Ter)
n.2537T>G
4g.123256054T=CA1490644450AFG2Ac.2379T= (p.Tyr793=)
c.2448T= (p.Tyr816=)
c.2376T= (p.Tyr792=)
c.2451T= (p.Tyr817=)
c.2157T= (p.Tyr719=)
c.1995T= (p.Tyr665=)
n.2537T=
4g.123256055G>ACA358230586AFG2Ac.2380G>A (p.Val794Met)
c.2449G>A (p.Val817Met)
c.2377G>A (p.Val793Met)
c.2452G>A (p.Val818Met)
c.2158G>A (p.Val720Met)
c.1996G>A (p.Val666Met)
n.2538G>A
 dbSNP gnomAD v4
4g.123256055G>CCA358230587AFG2Ac.2380G>C (p.Val794Leu)
c.2449G>C (p.Val817Leu)
c.2377G>C (p.Val793Leu)
c.2452G>C (p.Val818Leu)
c.2158G>C (p.Val720Leu)
c.1996G>C (p.Val666Leu)
n.2538G>C
4g.123256055G=CA1490644456AFG2Ac.2380G= (p.Val794=)
c.2449G= (p.Val817=)
c.2377G= (p.Val793=)
c.2452G= (p.Val818=)
c.2158G= (p.Val720=)
c.1996G= (p.Val666=)
n.2538G=
4g.123256055G>TCA358230588AFG2Ac.2380G>T (p.Val794Leu)
c.2449G>T (p.Val817Leu)
c.2377G>T (p.Val793Leu)
c.2452G>T (p.Val818Leu)
c.2158G>T (p.Val720Leu)
c.1996G>T (p.Val666Leu)
n.2538G>T
4g.123256056T>ACA358230589AFG2Ac.2381T>A (p.Val794Glu)
c.2450T>A (p.Val817Glu)
c.2378T>A (p.Val793Glu)
c.2453T>A (p.Val818Glu)
c.2159T>A (p.Val720Glu)
c.1997T>A (p.Val666Glu)
n.2539T>A
4g.123256056T>CCA358230590AFG2Ac.2381T>C (p.Val794Ala)
c.2450T>C (p.Val817Ala)
c.2378T>C (p.Val793Ala)
c.2453T>C (p.Val818Ala)
c.2159T>C (p.Val720Ala)
c.1997T>C (p.Val666Ala)
n.2539T>C
 dbSNP
4g.123256056T>GCA358230591AFG2Ac.2381T>G (p.Val794Gly)
c.2450T>G (p.Val817Gly)
c.2378T>G (p.Val793Gly)
c.2453T>G (p.Val818Gly)
c.2159T>G (p.Val720Gly)
c.1997T>G (p.Val666Gly)
n.2539T>G
4g.123256056T=CA1490644460AFG2Ac.2381T= (p.Val794=)
c.2450T= (p.Val817=)
c.2378T= (p.Val793=)
c.2453T= (p.Val818=)
c.2159T= (p.Val720=)
c.1997T= (p.Val666=)
n.2539T=
4g.123256057G>ACA441237372AFG2Ac.2382G>A (p.Val794=)
c.2451G>A (p.Val817=)
c.2379G>A (p.Val793=)
c.2454G>A (p.Val818=)
c.2160G>A (p.Val720=)
c.1998G>A (p.Val666=)
n.2540G>A
4g.123256057G>CCA441237373AFG2Ac.2382G>C (p.Val794=)
c.2451G>C (p.Val817=)
c.2379G>C (p.Val793=)
c.2454G>C (p.Val818=)
c.2160G>C (p.Val720=)
c.1998G>C (p.Val666=)
n.2540G>C
4g.123256057G>TCA441237374AFG2Ac.2382G>T (p.Val794=)
c.2451G>T (p.Val817=)
c.2379G>T (p.Val793=)
c.2454G>T (p.Val818=)
c.2160G>T (p.Val720=)
c.1998G>T (p.Val666=)
n.2540G>T
4g.123256058C>ACA358230593AFG2Ac.2383C>A (p.Pro795Thr)
c.2452C>A (p.Pro818Thr)
c.2380C>A (p.Pro794Thr)
c.2455C>A (p.Pro819Thr)
c.2161C>A (p.Pro721Thr)
c.1999C>A (p.Pro667Thr)
n.2541C>A
 dbSNP gnomAD v2 gnomAD v4
4g.123256058C=CA1490644463AFG2Ac.2383C= (p.Pro795=)
c.2452C= (p.Pro818=)
c.2380C= (p.Pro794=)
c.2455C= (p.Pro819=)
c.2161C= (p.Pro721=)
c.1999C= (p.Pro667=)
n.2541C=
4g.123256058C>GCA358230592AFG2Ac.2383C>G (p.Pro795Ala)
c.2452C>G (p.Pro818Ala)
c.2380C>G (p.Pro794Ala)
c.2455C>G (p.Pro819Ala)
c.2161C>G (p.Pro721Ala)
c.1999C>G (p.Pro667Ala)
n.2541C>G
4g.123256058C>TCA3070726AFG2Ac.2383C>T (p.Pro795Ser)
c.2452C>T (p.Pro818Ser)
c.2380C>T (p.Pro794Ser)
c.2455C>T (p.Pro819Ser)
c.2161C>T (p.Pro721Ser)
c.1999C>T (p.Pro667Ser)
n.2541C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.123256059C>ACA358230594AFG2Ac.2384C>A (p.Pro795His)
c.2453C>A (p.Pro818His)
c.2381C>A (p.Pro794His)
c.2456C>A (p.Pro819His)
c.2162C>A (p.Pro721His)
c.2000C>A (p.Pro667His)
n.2542C>A
4g.123256059C=CA1490644467AFG2Ac.2384C= (p.Pro795=)
c.2453C= (p.Pro818=)
c.2381C= (p.Pro794=)
c.2456C= (p.Pro819=)
c.2162C= (p.Pro721=)
c.2000C= (p.Pro667=)
n.2542C=
4g.123256059C>GCA358230595AFG2Ac.2384C>G (p.Pro795Arg)
c.2453C>G (p.Pro818Arg)
c.2381C>G (p.Pro794Arg)
c.2456C>G (p.Pro819Arg)
c.2162C>G (p.Pro721Arg)
c.2000C>G (p.Pro667Arg)
n.2542C>G
 ClinVar dbSNP gnomAD v4
4g.123256059C>TCA358230596AFG2Ac.2384C>T (p.Pro795Leu)
c.2453C>T (p.Pro818Leu)
c.2381C>T (p.Pro794Leu)
c.2456C>T (p.Pro819Leu)
c.2162C>T (p.Pro721Leu)
c.2000C>T (p.Pro667Leu)
n.2542C>T
4g.123256060T>ACA441237375AFG2Ac.2385T>A (p.Pro795=)
c.2454T>A (p.Pro818=)
c.2382T>A (p.Pro794=)
c.2457T>A (p.Pro819=)
c.2163T>A (p.Pro721=)
c.2001T>A (p.Pro667=)
n.2543T>A
4g.123256060T>CCA441237376AFG2Ac.2385T>C (p.Pro795=)
c.2454T>C (p.Pro818=)
c.2382T>C (p.Pro794=)
c.2457T>C (p.Pro819=)
c.2163T>C (p.Pro721=)
c.2001T>C (p.Pro667=)
n.2543T>C
4g.123256060T>GCA441237377AFG2Ac.2385T>G (p.Pro795=)
c.2454T>G (p.Pro818=)
c.2382T>G (p.Pro794=)
c.2457T>G (p.Pro819=)
c.2163T>G (p.Pro721=)
c.2001T>G (p.Pro667=)
n.2543T>G
4g.123256061T>ACA358230597AFG2Ac.2386T>A (p.Leu796Ile)
c.2455T>A (p.Leu819Ile)
c.2383T>A (p.Leu795Ile)
c.2458T>A (p.Leu820Ile)
c.2164T>A (p.Leu722Ile)
c.2002T>A (p.Leu668Ile)
n.2544T>A
4g.123256061T>CCA441237379AFG2Ac.2386T>C (p.Leu796=)
c.2455T>C (p.Leu819=)
c.2383T>C (p.Leu795=)
c.2458T>C (p.Leu820=)
c.2164T>C (p.Leu722=)
c.2002T>C (p.Leu668=)
n.2544T>C
4g.123256061T>GCA358230598AFG2Ac.2386T>G (p.Leu796Val)
c.2455T>G (p.Leu819Val)
c.2383T>G (p.Leu795Val)
c.2458T>G (p.Leu820Val)
c.2164T>G (p.Leu722Val)
c.2002T>G (p.Leu668Val)
n.2544T>G
4g.123256062T>ACA358230599AFG2Ac.2387T>A (p.Leu796Ter)
c.2456T>A (p.Leu819Ter)
c.2384T>A (p.Leu795Ter)
c.2459T>A (p.Leu820Ter)
c.2165T>A (p.Leu722Ter)
c.2003T>A (p.Leu668Ter)
n.2545T>A
4g.123256062T>CCA358230600AFG2Ac.2387T>C (p.Leu796Ser)
c.2456T>C (p.Leu819Ser)
c.2384T>C (p.Leu795Ser)
c.2459T>C (p.Leu820Ser)
c.2165T>C (p.Leu722Ser)
c.2003T>C (p.Leu668Ser)
n.2545T>C
4g.123256062T>GCA358230601AFG2Ac.2387T>G (p.Leu796Ter)
c.2456T>G (p.Leu819Ter)
c.2384T>G (p.Leu795Ter)
c.2459T>G (p.Leu820Ter)
c.2165T>G (p.Leu722Ter)
c.2003T>G (p.Leu668Ter)
n.2545T>G
4g.123256063A=CA1490644471AFG2Ac.2388A= (p.Leu796=)
c.2457A= (p.Leu819=)
c.2385A= (p.Leu795=)
c.2460A= (p.Leu820=)
c.2166A= (p.Leu722=)
c.2004A= (p.Leu668=)
n.2546A=
4g.123256063A>CCA358230602AFG2Ac.2388A>C (p.Leu796Phe)
c.2457A>C (p.Leu819Phe)
c.2385A>C (p.Leu795Phe)
c.2460A>C (p.Leu820Phe)
c.2166A>C (p.Leu722Phe)
c.2004A>C (p.Leu668Phe)
n.2546A>C
4g.123256063A>GCA3070727AFG2Ac.2388A>G (p.Leu796=)
c.2457A>G (p.Leu819=)
c.2385A>G (p.Leu795=)
c.2460A>G (p.Leu820=)
c.2166A>G (p.Leu722=)
c.2004A>G (p.Leu668=)
n.2546A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.123256063A>TCA358230603AFG2Ac.2388A>T (p.Leu796Phe)
c.2457A>T (p.Leu819Phe)
c.2385A>T (p.Leu795Phe)
c.2460A>T (p.Leu820Phe)
c.2166A>T (p.Leu722Phe)
c.2004A>T (p.Leu668Phe)
n.2546A>T
4g.123256064C>ACA358230606AFG2Ac.2389C>A (p.Pro797Thr)
c.2458C>A (p.Pro820Thr)
c.2386C>A (p.Pro796Thr)
c.2461C>A (p.Pro821Thr)
c.2167C>A (p.Pro723Thr)
c.2005C>A (p.Pro669Thr)
n.2547C>A
4g.123256064C>GCA358230605AFG2Ac.2389C>G (p.Pro797Ala)
c.2458C>G (p.Pro820Ala)
c.2386C>G (p.Pro796Ala)
c.2461C>G (p.Pro821Ala)
c.2167C>G (p.Pro723Ala)
c.2005C>G (p.Pro669Ala)
n.2547C>G
4g.123256064C>TCA358230604AFG2Ac.2389C>T (p.Pro797Ser)
c.2458C>T (p.Pro820Ser)
c.2386C>T (p.Pro796Ser)
c.2461C>T (p.Pro821Ser)
c.2167C>T (p.Pro723Ser)
c.2005C>T (p.Pro669Ser)
n.2547C>T
 gnomAD v4
4g.123256064_123256065insACA645523855AFG2Ac.2389_2390insA (p.Pro797HisfsTer11)
c.2458_2459insA (p.Pro820HisfsTer11)
c.2386_2387insA (p.Pro796HisfsTer11)
c.2461_2462insA (p.Pro821HisfsTer11)
c.2167_2168insA (p.Pro723HisfsTer11)
c.2005_2006insA (p.Pro669HisfsTer11)
n.2547_2548insA
 COSMIC
4g.123256065C>ACA358230607AFG2Ac.2390C>A (p.Pro797Gln)
c.2459C>A (p.Pro820Gln)
c.2387C>A (p.Pro796Gln)
c.2462C>A (p.Pro821Gln)
c.2168C>A (p.Pro723Gln)
c.2006C>A (p.Pro669Gln)
n.2548C>A
4g.123256065C=CA1490644475AFG2Ac.2390C= (p.Pro797=)
c.2459C= (p.Pro820=)
c.2387C= (p.Pro796=)
c.2462C= (p.Pro821=)
c.2168C= (p.Pro723=)
c.2006C= (p.Pro669=)
n.2548C=
4g.123256065C>GCA358230608AFG2Ac.2390C>G (p.Pro797Arg)
c.2459C>G (p.Pro820Arg)
c.2387C>G (p.Pro796Arg)
c.2462C>G (p.Pro821Arg)
c.2168C>G (p.Pro723Arg)
c.2006C>G (p.Pro669Arg)
n.2548C>G
 gnomAD v4
4g.123256065C>TCA358230609AFG2Ac.2390C>T (p.Pro797Leu)
c.2459C>T (p.Pro820Leu)
c.2387C>T (p.Pro796Leu)
c.2462C>T (p.Pro821Leu)
c.2168C>T (p.Pro723Leu)
c.2006C>T (p.Pro669Leu)
n.2548C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.123256066G>ACA3070728AFG2Ac.2391G>A (p.Pro797=)
c.2460G>A (p.Pro820=)
c.2388G>A (p.Pro796=)
c.2463G>A (p.Pro821=)
c.2169G>A (p.Pro723=)
c.2007G>A (p.Pro669=)
n.2549G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
4g.123256066G>CCA441237381AFG2Ac.2391G>C (p.Pro797=)
c.2460G>C (p.Pro820=)
c.2388G>C (p.Pro796=)
c.2463G>C (p.Pro821=)
c.2169G>C (p.Pro723=)
c.2007G>C (p.Pro669=)
n.2549G>C
4g.123256066G=CA1490644480AFG2Ac.2391G= (p.Pro797=)
c.2460G= (p.Pro820=)
c.2388G= (p.Pro796=)
c.2463G= (p.Pro821=)
c.2169G= (p.Pro723=)
c.2007G= (p.Pro669=)
n.2549G=
4g.123256066G>TCA441237380AFG2Ac.2391G>T (p.Pro797=)
c.2460G>T (p.Pro820=)
c.2388G>T (p.Pro796=)
c.2463G>T (p.Pro821=)
c.2169G>T (p.Pro723=)
c.2007G>T (p.Pro669=)
n.2549G>T
4g.123256067G>ACA358230610AFG2Ac.2392G>A (p.Asp798Asn)
c.2461G>A (p.Asp821Asn)
c.2389G>A (p.Asp797Asn)
c.2464G>A (p.Asp822Asn)
c.2170G>A (p.Asp724Asn)
c.2008G>A (p.Asp670Asn)
n.2550G>A
4g.123256067G>CCA358230611AFG2Ac.2392G>C (p.Asp798His)
c.2461G>C (p.Asp821His)
c.2389G>C (p.Asp797His)
c.2464G>C (p.Asp822His)
c.2170G>C (p.Asp724His)
c.2008G>C (p.Asp670His)
n.2550G>C
4g.123256067G>TCA358230612AFG2Ac.2392G>T (p.Asp798Tyr)
c.2461G>T (p.Asp821Tyr)
c.2389G>T (p.Asp797Tyr)
c.2464G>T (p.Asp822Tyr)
c.2170G>T (p.Asp724Tyr)
c.2008G>T (p.Asp670Tyr)
n.2550G>T
 gnomAD v4
4g.123256068A>CCA358230613AFG2Ac.2393A>C (p.Asp798Ala)
c.2462A>C (p.Asp821Ala)
c.2390A>C (p.Asp797Ala)
c.2465A>C (p.Asp822Ala)
c.2171A>C (p.Asp724Ala)
c.2009A>C (p.Asp670Ala)
n.2551A>C
4g.123256068A>GCA358230614AFG2Ac.2393A>G (p.Asp798Gly)
c.2462A>G (p.Asp821Gly)
c.2390A>G (p.Asp797Gly)
c.2465A>G (p.Asp822Gly)
c.2171A>G (p.Asp724Gly)
c.2009A>G (p.Asp670Gly)
n.2551A>G
 gnomAD v4
4g.123256068A>TCA358230615AFG2Ac.2393A>T (p.Asp798Val)
c.2462A>T (p.Asp821Val)
c.2390A>T (p.Asp797Val)
c.2465A>T (p.Asp822Val)
c.2171A>T (p.Asp724Val)
c.2009A>T (p.Asp670Val)
n.2551A>T
4g.123256069T>ACA358230616AFG2Ac.2394T>A (p.Asp798Glu)
c.2463T>A (p.Asp821Glu)
c.2391T>A (p.Asp797Glu)
c.2466T>A (p.Asp822Glu)
c.2172T>A (p.Asp724Glu)
c.2010T>A (p.Asp670Glu)
n.2552T>A
4g.123256069T>CCA441237382AFG2Ac.2394T>C (p.Asp798=)
c.2463T>C (p.Asp821=)
c.2391T>C (p.Asp797=)
c.2466T>C (p.Asp822=)
c.2172T>C (p.Asp724=)
c.2010T>C (p.Asp670=)
n.2552T>C
4g.123256069T>GCA358230617AFG2Ac.2394T>G (p.Asp798Glu)
c.2463T>G (p.Asp821Glu)
c.2391T>G (p.Asp797Glu)
c.2466T>G (p.Asp822Glu)
c.2172T>G (p.Asp724Glu)
c.2010T>G (p.Asp670Glu)
n.2552T>G
4g.123256070G>ACA358230620AFG2Ac.2395G>A (p.Ala799Thr)
c.2464G>A (p.Ala822Thr)
c.2392G>A (p.Ala798Thr)
c.2467G>A (p.Ala823Thr)
c.2173G>A (p.Ala725Thr)
c.2011G>A (p.Ala671Thr)
n.2553G>A
 dbSNP gnomAD v3 gnomAD v4
4g.123256070G>CCA358230619AFG2Ac.2395G>C (p.Ala799Pro)
c.2464G>C (p.Ala822Pro)
c.2392G>C (p.Ala798Pro)
c.2467G>C (p.Ala823Pro)
c.2173G>C (p.Ala725Pro)
c.2011G>C (p.Ala671Pro)
n.2553G>C
4g.123256070G=CA1490644484AFG2Ac.2395G= (p.Ala799=)
c.2464G= (p.Ala822=)
c.2392G= (p.Ala798=)
c.2467G= (p.Ala823=)
c.2173G= (p.Ala725=)
c.2011G= (p.Ala671=)
n.2553G=
4g.123256070G>TCA358230618AFG2Ac.2395G>T (p.Ala799Ser)
c.2464G>T (p.Ala822Ser)
c.2392G>T (p.Ala798Ser)
c.2467G>T (p.Ala823Ser)
c.2173G>T (p.Ala725Ser)
c.2011G>T (p.Ala671Ser)
n.2553G>T
4g.123256071C>ACA358230621AFG2Ac.2396C>A (p.Ala799Glu)
c.2465C>A (p.Ala822Glu)
c.2393C>A (p.Ala798Glu)
c.2468C>A (p.Ala823Glu)
c.2174C>A (p.Ala725Glu)
c.2012C>A (p.Ala671Glu)
n.2554C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.123256071C=CA1490644487AFG2Ac.2396C= (p.Ala799=)
c.2465C= (p.Ala822=)
c.2393C= (p.Ala798=)
c.2468C= (p.Ala823=)
c.2174C= (p.Ala725=)
c.2012C= (p.Ala671=)
n.2554C=
4g.123256071C>GCA358230622AFG2Ac.2396C>G (p.Ala799Gly)
c.2465C>G (p.Ala822Gly)
c.2393C>G (p.Ala798Gly)
c.2468C>G (p.Ala823Gly)
c.2174C>G (p.Ala725Gly)
c.2012C>G (p.Ala671Gly)
n.2554C>G
4g.123256071C>TCA358230623AFG2Ac.2396C>T (p.Ala799Val)
c.2465C>T (p.Ala822Val)
c.2393C>T (p.Ala798Val)
c.2468C>T (p.Ala823Val)
c.2174C>T (p.Ala725Val)
c.2012C>T (p.Ala671Val)
n.2554C>T
4g.123256072A=CA1490644490AFG2Ac.2397A= (p.Ala799=)
c.2466A= (p.Ala822=)
c.2394A= (p.Ala798=)
c.2469A= (p.Ala823=)
c.2175A= (p.Ala725=)
c.2013A= (p.Ala671=)
n.2555A=
4g.123256072A>CCA105289936AFG2Ac.2397A>C (p.Ala799=)
c.2466A>C (p.Ala822=)
c.2394A>C (p.Ala798=)
c.2469A>C (p.Ala823=)
c.2175A>C (p.Ala725=)
c.2013A>C (p.Ala671=)
n.2555A>C
 dbSNP gnomAD v4
4g.123256072A>GCA441237383AFG2Ac.2397A>G (p.Ala799=)
c.2466A>G (p.Ala822=)
c.2394A>G (p.Ala798=)
c.2469A>G (p.Ala823=)
c.2175A>G (p.Ala725=)
c.2013A>G (p.Ala671=)
n.2555A>G
4g.123256072A>TCA441237384AFG2Ac.2397A>T (p.Ala799=)
c.2466A>T (p.Ala822=)
c.2394A>T (p.Ala798=)
c.2469A>T (p.Ala823=)
c.2175A>T (p.Ala725=)
c.2013A>T (p.Ala671=)
n.2555A>T
4g.123256073G>ACA3070729AFG2Ac.2398G>A (p.Ala800Thr)
c.2467G>A (p.Ala823Thr)
c.2395G>A (p.Ala799Thr)
c.2470G>A (p.Ala824Thr)
c.2176G>A (p.Ala726Thr)
c.2014G>A (p.Ala672Thr)
n.2556G>A
 dbSNP ExAC gnomAD v2
4g.123256073G>CCA358230624AFG2Ac.2398G>C (p.Ala800Pro)
c.2467G>C (p.Ala823Pro)
c.2395G>C (p.Ala799Pro)
c.2470G>C (p.Ala824Pro)
c.2176G>C (p.Ala726Pro)
c.2014G>C (p.Ala672Pro)
n.2556G>C
4g.123256073G=CA1490644493AFG2Ac.2398G= (p.Ala800=)
c.2467G= (p.Ala823=)
c.2395G= (p.Ala799=)
c.2470G= (p.Ala824=)
c.2176G= (p.Ala726=)
c.2014G= (p.Ala672=)
n.2556G=
4g.123256073G>TCA358230625AFG2Ac.2398G>T (p.Ala800Ser)
c.2467G>T (p.Ala823Ser)
c.2395G>T (p.Ala799Ser)
c.2470G>T (p.Ala824Ser)
c.2176G>T (p.Ala726Ser)
c.2014G>T (p.Ala672Ser)
n.2556G>T
4g.123256074C>ACA358230626AFG2Ac.2399C>A (p.Ala800Glu)
c.2468C>A (p.Ala823Glu)
c.2396C>A (p.Ala799Glu)
c.2471C>A (p.Ala824Glu)
c.2177C>A (p.Ala726Glu)
c.2015C>A (p.Ala672Glu)
n.2557C>A
4g.123256074C>GCA358230627AFG2Ac.2399C>G (p.Ala800Gly)
c.2468C>G (p.Ala823Gly)
c.2396C>G (p.Ala799Gly)
c.2471C>G (p.Ala824Gly)
c.2177C>G (p.Ala726Gly)
c.2015C>G (p.Ala672Gly)
n.2557C>G
4g.123256074C>TCA358230628AFG2Ac.2399C>T (p.Ala800Val)
c.2468C>T (p.Ala823Val)
c.2396C>T (p.Ala799Val)
c.2471C>T (p.Ala824Val)
c.2177C>T (p.Ala726Val)
c.2015C>T (p.Ala672Val)
n.2557C>T
4g.123256075A>CCA441237385AFG2Ac.2400A>C (p.Ala800=)
c.2469A>C (p.Ala823=)
c.2397A>C (p.Ala799=)
c.2472A>C (p.Ala824=)
c.2178A>C (p.Ala726=)
c.2016A>C (p.Ala672=)
n.2558A>C
4g.123256075A>GCA441237386AFG2Ac.2400A>G (p.Ala800=)
c.2469A>G (p.Ala823=)
c.2397A>G (p.Ala799=)
c.2472A>G (p.Ala824=)
c.2178A>G (p.Ala726=)
c.2016A>G (p.Ala672=)
n.2558A>G
4g.123256075A>TCA441237387AFG2Ac.2400A>T (p.Ala800=)
c.2469A>T (p.Ala823=)
c.2397A>T (p.Ala799=)
c.2472A>T (p.Ala824=)
c.2178A>T (p.Ala726=)
c.2016A>T (p.Ala672=)
n.2558A>T
4g.123256076A>CCA358230629AFG2Ac.2401A>C (p.Thr801Pro)
c.2470A>C (p.Thr824Pro)
c.2398A>C (p.Thr800Pro)
c.2473A>C (p.Thr825Pro)
c.2179A>C (p.Thr727Pro)
c.2017A>C (p.Thr673Pro)
n.2559A>C
4g.123256076A>GCA358230630AFG2Ac.2401A>G (p.Thr801Ala)
c.2470A>G (p.Thr824Ala)
c.2398A>G (p.Thr800Ala)
c.2473A>G (p.Thr825Ala)
c.2179A>G (p.Thr727Ala)
c.2017A>G (p.Thr673Ala)
n.2559A>G
 gnomAD v4
4g.123256076A>TCA358230631AFG2Ac.2401A>T (p.Thr801Ser)
c.2470A>T (p.Thr824Ser)
c.2398A>T (p.Thr800Ser)
c.2473A>T (p.Thr825Ser)
c.2179A>T (p.Thr727Ser)
c.2017A>T (p.Thr673Ser)
n.2559A>T
4g.123256077C>ACA358230632AFG2Ac.2402C>A (p.Thr801Lys)
c.2471C>A (p.Thr824Lys)
c.2399C>A (p.Thr800Lys)
c.2474C>A (p.Thr825Lys)
c.2180C>A (p.Thr727Lys)
c.2018C>A (p.Thr673Lys)
n.2560C>A
4g.123256077C>GCA358230634AFG2Ac.2402C>G (p.Thr801Arg)
c.2471C>G (p.Thr824Arg)
c.2399C>G (p.Thr800Arg)
c.2474C>G (p.Thr825Arg)
c.2180C>G (p.Thr727Arg)
c.2018C>G (p.Thr673Arg)
n.2560C>G
4g.123256077C>TCA358230633AFG2Ac.2402C>T (p.Thr801Ile)
c.2471C>T (p.Thr824Ile)
c.2399C>T (p.Thr800Ile)
c.2474C>T (p.Thr825Ile)
c.2180C>T (p.Thr727Ile)
c.2018C>T (p.Thr673Ile)
n.2560C>T
4g.123256078A>CCA441237388AFG2Ac.2403A>C (p.Thr801=)
c.2472A>C (p.Thr824=)
c.2400A>C (p.Thr800=)
c.2475A>C (p.Thr825=)
c.2181A>C (p.Thr727=)
c.2019A>C (p.Thr673=)
n.2561A>C
4g.123256078A>GCA441237389AFG2Ac.2403A>G (p.Thr801=)
c.2472A>G (p.Thr824=)
c.2400A>G (p.Thr800=)
c.2475A>G (p.Thr825=)
c.2181A>G (p.Thr727=)
c.2019A>G (p.Thr673=)
n.2561A>G
4g.123256078A>TCA441237390AFG2Ac.2403A>T (p.Thr801=)
c.2472A>T (p.Thr824=)
c.2400A>T (p.Thr800=)
c.2475A>T (p.Thr825=)
c.2181A>T (p.Thr727=)
c.2019A>T (p.Thr673=)
n.2561A>T
4g.123256079A>CCA441237391AFG2Ac.2404A>C (p.Arg802=)
c.2473A>C (p.Arg825=)
c.2401A>C (p.Arg801=)
c.2476A>C (p.Arg826=)
c.2182A>C (p.Arg728=)
c.2020A>C (p.Arg674=)
n.2562A>C
4g.123256079A>GCA358230635AFG2Ac.2404A>G (p.Arg802Gly)
c.2473A>G (p.Arg825Gly)
c.2401A>G (p.Arg801Gly)
c.2476A>G (p.Arg826Gly)
c.2182A>G (p.Arg728Gly)
c.2020A>G (p.Arg674Gly)
n.2562A>G
4g.123256079A>TCA358230636AFG2Ac.2404A>T (p.Arg802Ter)
c.2473A>T (p.Arg825Ter)
c.2401A>T (p.Arg801Ter)
c.2476A>T (p.Arg826Ter)
c.2182A>T (p.Arg728Ter)
c.2020A>T (p.Arg674Ter)
n.2562A>T
4g.123256080G>ACA358230637AFG2Ac.2405G>A (p.Arg802Lys)
c.2474G>A (p.Arg825Lys)
c.2402G>A (p.Arg801Lys)
c.2477G>A (p.Arg826Lys)
c.2183G>A (p.Arg728Lys)
c.2021G>A (p.Arg674Lys)
n.2563G>A
 ClinVar dbSNP COSMIC
4g.123256080G>CCA358230638AFG2Ac.2405G>C (p.Arg802Thr)
c.2474G>C (p.Arg825Thr)
c.2402G>C (p.Arg801Thr)
c.2477G>C (p.Arg826Thr)
c.2183G>C (p.Arg728Thr)
c.2021G>C (p.Arg674Thr)
n.2563G>C
4g.123256080G=CA1490644497AFG2Ac.2405G= (p.Arg802=)
c.2474G= (p.Arg825=)
c.2402G= (p.Arg801=)
c.2477G= (p.Arg826=)
c.2183G= (p.Arg728=)
c.2021G= (p.Arg674=)
n.2563G=
4g.123256080G>TCA358230639AFG2Ac.2405G>T (p.Arg802Ile)
c.2474G>T (p.Arg825Ile)
c.2402G>T (p.Arg801Ile)
c.2477G>T (p.Arg826Ile)
c.2183G>T (p.Arg728Ile)
c.2021G>T (p.Arg674Ile)
n.2563G>T
4g.123256081A=CA1490644501AFG2Ac.2406A= (p.Arg802=)
c.2475A= (p.Arg825=)
c.2403A= (p.Arg801=)
c.2478A= (p.Arg826=)
c.2184A= (p.Arg728=)
c.2022A= (p.Arg674=)
n.2564A=
4g.123256081A>CCA358230640AFG2Ac.2406A>C (p.Arg802Ser)
c.2475A>C (p.Arg825Ser)
c.2403A>C (p.Arg801Ser)
c.2478A>C (p.Arg826Ser)
c.2184A>C (p.Arg728Ser)
c.2022A>C (p.Arg674Ser)
n.2564A>C
 ClinVar dbSNP gnomAD v4
4g.123256081A>GCA441237392AFG2Ac.2406A>G (p.Arg802=)
c.2475A>G (p.Arg825=)
c.2403A>G (p.Arg801=)
c.2478A>G (p.Arg826=)
c.2184A>G (p.Arg728=)
c.2022A>G (p.Arg674=)
n.2564A>G
4g.123256081A>TCA358230641AFG2Ac.2406A>T (p.Arg802Ser)
c.2475A>T (p.Arg825Ser)
c.2403A>T (p.Arg801Ser)
c.2478A>T (p.Arg826Ser)
c.2184A>T (p.Arg728Ser)
c.2022A>T (p.Arg674Ser)
n.2564A>T
4g.123256082A>CCA441237393AFG2Ac.2407A>C (p.Arg803=)
c.2476A>C (p.Arg826=)
c.2404A>C (p.Arg802=)
c.2479A>C (p.Arg827=)
c.2185A>C (p.Arg729=)
c.2023A>C (p.Arg675=)
n.2565A>C
4g.123256082A>GCA358230642AFG2Ac.2407A>G (p.Arg803Gly)
c.2476A>G (p.Arg826Gly)
c.2404A>G (p.Arg802Gly)
c.2479A>G (p.Arg827Gly)
c.2185A>G (p.Arg729Gly)
c.2023A>G (p.Arg675Gly)
n.2565A>G
4g.123256082A>TCA358230643AFG2Ac.2407A>T (p.Arg803Trp)
c.2476A>T (p.Arg826Trp)
c.2404A>T (p.Arg802Trp)
c.2479A>T (p.Arg827Trp)
c.2185A>T (p.Arg729Trp)
c.2023A>T (p.Arg675Trp)
n.2565A>T
4g.123256082_123256084delinsAGGCA1490644504AFG2Ac.2407_2409delinsAGG (p.Arg803=)
c.2476_2478delinsAGG (p.Arg826=)
c.2404_2406delinsAGG (p.Arg802=)
c.2479_2481delinsAGG (p.Arg827=)
c.2185_2187delinsAGG (p.Arg729=)
c.2023_2025delinsAGG (p.Arg675=)
n.2565_2567delinsAGG
4g.123256083G>ACA358230644AFG2Ac.2408G>A (p.Arg803Lys)
c.2477G>A (p.Arg826Lys)
c.2405G>A (p.Arg802Lys)
c.2480G>A (p.Arg827Lys)
c.2186G>A (p.Arg729Lys)
c.2024G>A (p.Arg675Lys)
n.2566G>A
4g.123256083G>CCA358230645AFG2Ac.2408G>C (p.Arg803Thr)
c.2477G>C (p.Arg826Thr)
c.2405G>C (p.Arg802Thr)
c.2480G>C (p.Arg827Thr)
c.2186G>C (p.Arg729Thr)
c.2024G>C (p.Arg675Thr)
n.2566G>C
4g.123256083G>TCA358230646AFG2Ac.2408G>T (p.Arg803Met)
c.2477G>T (p.Arg826Met)
c.2405G>T (p.Arg802Met)
c.2480G>T (p.Arg827Met)
c.2186G>T (p.Arg729Met)
c.2024G>T (p.Arg675Met)
n.2566G>T
4g.123256084_123256085delCA891842915AFG2Ac.2409_2410del (p.Glu804AsnfsTer3)
c.2478_2479del (p.Glu827AsnfsTer3)
c.2406_2407del (p.Glu803AsnfsTer3)
c.2481_2482del (p.Glu828AsnfsTer3)
c.2187_2188del (p.Glu730AsnfsTer3)
c.2025_2026del (p.Glu676AsnfsTer3)
n.2567_2568del
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.123256084G>ACA441237394AFG2Ac.2409G>A (p.Arg803=)
c.2478G>A (p.Arg826=)
c.2406G>A (p.Arg802=)
c.2481G>A (p.Arg827=)
c.2187G>A (p.Arg729=)
c.2025G>A (p.Arg675=)
n.2567G>A
 dbSNP
4g.123256084G>CCA358230647AFG2Ac.2409G>C (p.Arg803Ser)
c.2478G>C (p.Arg826Ser)
c.2406G>C (p.Arg802Ser)
c.2481G>C (p.Arg827Ser)
c.2187G>C (p.Arg729Ser)
c.2025G>C (p.Arg675Ser)
n.2567G>C
4g.123256084G=CA1490644509AFG2Ac.2409G= (p.Arg803=)
c.2478G= (p.Arg826=)
c.2406G= (p.Arg802=)
c.2481G= (p.Arg827=)
c.2187G= (p.Arg729=)
c.2025G= (p.Arg675=)
n.2567G=
4g.123256084G>TCA358230648AFG2Ac.2409G>T (p.Arg803Ser)
c.2478G>T (p.Arg826Ser)
c.2406G>T (p.Arg802Ser)
c.2481G>T (p.Arg827Ser)
c.2187G>T (p.Arg729Ser)
c.2025G>T (p.Arg675Ser)
n.2567G>T
4g.123256085G>ACA358230651AFG2Ac.2410G>A (p.Glu804Lys)
c.2479G>A (p.Glu827Lys)
c.2407G>A (p.Glu803Lys)
c.2482G>A (p.Glu828Lys)
c.2188G>A (p.Glu730Lys)
c.2026G>A (p.Glu676Lys)
n.2568G>A
4g.123256085G>CCA358230649AFG2Ac.2410G>C (p.Glu804Gln)
c.2479G>C (p.Glu827Gln)
c.2407G>C (p.Glu803Gln)
c.2482G>C (p.Glu828Gln)
c.2188G>C (p.Glu730Gln)
c.2026G>C (p.Glu676Gln)
n.2568G>C
4g.123256085G>TCA358230650AFG2Ac.2410G>T (p.Glu804Ter)
c.2479G>T (p.Glu827Ter)
c.2407G>T (p.Glu803Ter)
c.2482G>T (p.Glu828Ter)
c.2188G>T (p.Glu730Ter)
c.2026G>T (p.Glu676Ter)
n.2568G>T
4g.123256086A>CCA358230652AFG2Ac.2411A>C (p.Glu804Ala)
c.2480A>C (p.Glu827Ala)
c.2408A>C (p.Glu803Ala)
c.2483A>C (p.Glu828Ala)
c.2189A>C (p.Glu730Ala)
c.2027A>C (p.Glu676Ala)
n.2569A>C
4g.123256086A>GCA358230653AFG2Ac.2411A>G (p.Glu804Gly)
c.2480A>G (p.Glu827Gly)
c.2408A>G (p.Glu803Gly)
c.2483A>G (p.Glu828Gly)
c.2189A>G (p.Glu730Gly)
c.2027A>G (p.Glu676Gly)
n.2569A>G
4g.123256086A>TCA358230654AFG2Ac.2411A>T (p.Glu804Val)
c.2480A>T (p.Glu827Val)
c.2408A>T (p.Glu803Val)
c.2483A>T (p.Glu828Val)
c.2189A>T (p.Glu730Val)
c.2027A>T (p.Glu676Val)
n.2569A>T
4g.123256087A>CCA358230655AFG2Ac.2412A>C (p.Glu804Asp)
c.2481A>C (p.Glu827Asp)
c.2409A>C (p.Glu803Asp)
c.2484A>C (p.Glu828Asp)
c.2190A>C (p.Glu730Asp)
c.2028A>C (p.Glu676Asp)
n.2570A>C
4g.123256087A>GCA441237395AFG2Ac.2412A>G (p.Glu804=)
c.2481A>G (p.Glu827=)
c.2409A>G (p.Glu803=)
c.2484A>G (p.Glu828=)
c.2190A>G (p.Glu730=)
c.2028A>G (p.Glu676=)
n.2570A>G
4g.123256087A>TCA358230656AFG2Ac.2412A>T (p.Glu804Asp)
c.2481A>T (p.Glu827Asp)
c.2409A>T (p.Glu803Asp)
c.2484A>T (p.Glu828Asp)
c.2190A>T (p.Glu730Asp)
c.2028A>T (p.Glu676Asp)
n.2570A>T
4g.123256088A=CA1490644516AFG2Ac.2413A= (p.Ile805=)
c.2482A= (p.Ile828=)
c.2410A= (p.Ile804=)
c.2485A= (p.Ile829=)
c.2191A= (p.Ile731=)
c.2029A= (p.Ile677=)
n.2571A=
4g.123256088A>CCA358230657AFG2Ac.2413A>C (p.Ile805Leu)
c.2482A>C (p.Ile828Leu)
c.2410A>C (p.Ile804Leu)
c.2485A>C (p.Ile829Leu)
c.2191A>C (p.Ile731Leu)
c.2029A>C (p.Ile677Leu)
n.2571A>C
 gnomAD v4
4g.123256088A>GCA105289937AFG2Ac.2413A>G (p.Ile805Val)
c.2482A>G (p.Ile828Val)
c.2410A>G (p.Ile804Val)
c.2485A>G (p.Ile829Val)
c.2191A>G (p.Ile731Val)
c.2029A>G (p.Ile677Val)
n.2571A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.123256088A>TCA358230658AFG2Ac.2413A>T (p.Ile805Leu)
c.2482A>T (p.Ile828Leu)
c.2410A>T (p.Ile804Leu)
c.2485A>T (p.Ile829Leu)
c.2191A>T (p.Ile731Leu)
c.2029A>T (p.Ile677Leu)
n.2571A>T
4g.123256088_123256089delinsATCA1490644520AFG2Ac.2413_2414delinsAT (p.Ile805=)
c.2482_2483delinsAT (p.Ile828=)
c.2410_2411delinsAT (p.Ile804=)
c.2485_2486delinsAT (p.Ile829=)
c.2191_2192delinsAT (p.Ile731=)
c.2029_2030delinsAT (p.Ile677=)
n.2571_2572delinsAT
4g.123256089delCA554527087AFG2Ac.2414del (p.Ile805AsnfsTer?)
c.2483del (p.Ile828AsnfsTer?)
c.2411del (p.Ile804AsnfsTer?)
c.2486del (p.Ile829AsnfsTer?)
c.2192del (p.Ile731AsnfsTer?)
c.2030del (p.Ile677AsnfsTer?)
n.2572del
 dbSNP gnomAD v2 gnomAD v4
4g.123256089T>ACA358230659AFG2Ac.2414T>A (p.Ile805Lys)
c.2483T>A (p.Ile828Lys)
c.2411T>A (p.Ile804Lys)
c.2486T>A (p.Ile829Lys)
c.2192T>A (p.Ile731Lys)
c.2030T>A (p.Ile677Lys)
n.2572T>A
4g.123256089T>CCA358230660AFG2Ac.2414T>C (p.Ile805Thr)
c.2483T>C (p.Ile828Thr)
c.2411T>C (p.Ile804Thr)
c.2486T>C (p.Ile829Thr)
c.2192T>C (p.Ile731Thr)
c.2030T>C (p.Ile677Thr)
n.2572T>C
4g.123256089T>GCA358230661AFG2Ac.2414T>G (p.Ile805Arg)
c.2483T>G (p.Ile828Arg)
c.2411T>G (p.Ile804Arg)
c.2486T>G (p.Ile829Arg)
c.2192T>G (p.Ile731Arg)
c.2030T>G (p.Ile677Arg)
n.2572T>G
4g.123256090A=CA1490644528AFG2Ac.2415A= (p.Ile805=)
c.2484A= (p.Ile828=)
c.2412A= (p.Ile804=)
c.2487A= (p.Ile829=)
c.2193A= (p.Ile731=)
c.2031A= (p.Ile677=)
n.2573A=
4g.123256090A>CCA441237396AFG2Ac.2415A>C (p.Ile805=)
c.2484A>C (p.Ile828=)
c.2412A>C (p.Ile804=)
c.2487A>C (p.Ile829=)
c.2193A>C (p.Ile731=)
c.2031A>C (p.Ile677=)
n.2573A>C
4g.123256090A>GCA105289938AFG2Ac.2415A>G (p.Ile805Met)
c.2484A>G (p.Ile828Met)
c.2412A>G (p.Ile804Met)
c.2487A>G (p.Ile829Met)
c.2193A>G (p.Ile731Met)
c.2031A>G (p.Ile677Met)
n.2573A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.123256090A>TCA441237397AFG2Ac.2415A>T (p.Ile805=)
c.2484A>T (p.Ile828=)
c.2412A>T (p.Ile804=)
c.2487A>T (p.Ile829=)
c.2193A>T (p.Ile731=)
c.2031A>T (p.Ile677=)
n.2573A>T
4g.123256091T>ACA358230664AFG2Ac.2416T>A (p.Phe806Ile)
c.2485T>A (p.Phe829Ile)
c.2413T>A (p.Phe805Ile)
c.2488T>A (p.Phe830Ile)
c.2194T>A (p.Phe732Ile)
c.2032T>A (p.Phe678Ile)
n.2574T>A
4g.123256091T>CCA358230663AFG2Ac.2416T>C (p.Phe806Leu)
c.2485T>C (p.Phe829Leu)
c.2413T>C (p.Phe805Leu)
c.2488T>C (p.Phe830Leu)
c.2194T>C (p.Phe732Leu)
c.2032T>C (p.Phe678Leu)
n.2574T>C
 dbSNP gnomAD v4
4g.123256091T>GCA358230662AFG2Ac.2416T>G (p.Phe806Val)
c.2485T>G (p.Phe829Val)
c.2413T>G (p.Phe805Val)
c.2488T>G (p.Phe830Val)
c.2194T>G (p.Phe732Val)
c.2032T>G (p.Phe678Val)
n.2574T>G
4g.123256091T=CA1490644532AFG2Ac.2416T= (p.Phe806=)
c.2485T= (p.Phe829=)
c.2413T= (p.Phe805=)
c.2488T= (p.Phe830=)
c.2194T= (p.Phe732=)
c.2032T= (p.Phe678=)
n.2574T=
4g.123256092T>ACA358230667AFG2Ac.2417T>A (p.Phe806Tyr)
c.2486T>A (p.Phe829Tyr)
c.2414T>A (p.Phe805Tyr)
c.2489T>A (p.Phe830Tyr)
c.2195T>A (p.Phe732Tyr)
c.2033T>A (p.Phe678Tyr)
n.2575T>A
4g.123256092T>CCA358230665AFG2Ac.2417T>C (p.Phe806Ser)
c.2486T>C (p.Phe829Ser)
c.2414T>C (p.Phe805Ser)
c.2489T>C (p.Phe830Ser)
c.2195T>C (p.Phe732Ser)
c.2033T>C (p.Phe678Ser)
n.2575T>C
4g.123256092T>GCA358230666AFG2Ac.2417T>G (p.Phe806Cys)
c.2486T>G (p.Phe829Cys)
c.2414T>G (p.Phe805Cys)
c.2489T>G (p.Phe830Cys)
c.2195T>G (p.Phe732Cys)
c.2033T>G (p.Phe678Cys)
n.2575T>G
 dbSNP gnomAD v2 gnomAD v4
4g.123256092T=CA1490644534AFG2Ac.2417T= (p.Phe806=)
c.2486T= (p.Phe829=)
c.2414T= (p.Phe805=)
c.2489T= (p.Phe830=)
c.2195T= (p.Phe732=)
c.2033T= (p.Phe678=)
n.2575T=
4g.123256093T>ACA358230668AFG2Ac.2418T>A (p.Phe806Leu)
c.2487T>A (p.Phe829Leu)
c.2415T>A (p.Phe805Leu)
c.2490T>A (p.Phe830Leu)
c.2196T>A (p.Phe732Leu)
c.2034T>A (p.Phe678Leu)
n.2576T>A
 ClinVar dbSNP
4g.123256093T>CCA441237398AFG2Ac.2418T>C (p.Phe806=)
c.2487T>C (p.Phe829=)
c.2415T>C (p.Phe805=)
c.2490T>C (p.Phe830=)
c.2196T>C (p.Phe732=)
c.2034T>C (p.Phe678=)
n.2576T>C
 COSMIC
4g.123256093T>GCA358230669AFG2Ac.2418T>G (p.Phe806Leu)
c.2487T>G (p.Phe829Leu)
c.2415T>G (p.Phe805Leu)
c.2490T>G (p.Phe830Leu)
c.2196T>G (p.Phe732Leu)
c.2034T>G (p.Phe678Leu)
n.2576T>G
4g.123256094A>CCA358230670AFG2Ac.2419A>C (p.Lys807Gln)
c.2488A>C (p.Lys830Gln)
c.2416A>C (p.Lys806Gln)
c.2491A>C (p.Lys831Gln)
c.2197A>C (p.Lys733Gln)
c.2035A>C (p.Lys679Gln)
n.2577A>C
4g.123256094A>GCA358230671AFG2Ac.2419A>G (p.Lys807Glu)
c.2488A>G (p.Lys830Glu)
c.2416A>G (p.Lys806Glu)
c.2491A>G (p.Lys831Glu)
c.2197A>G (p.Lys733Glu)
c.2035A>G (p.Lys679Glu)
n.2577A>G
4g.123256094A>TCA358230672AFG2Ac.2419A>T (p.Lys807Ter)
c.2488A>T (p.Lys830Ter)
c.2416A>T (p.Lys806Ter)
c.2491A>T (p.Lys831Ter)
c.2197A>T (p.Lys733Ter)
c.2035A>T (p.Lys679Ter)
n.2577A>T
4g.123256095A>CCA358230673AFG2Ac.2420A>C (p.Lys807Thr)
c.2489A>C (p.Lys830Thr)
c.2417A>C (p.Lys806Thr)
c.2492A>C (p.Lys831Thr)
c.2198A>C (p.Lys733Thr)
c.2036A>C (p.Lys679Thr)
n.2578A>C
4g.123256095A>GCA358230675AFG2Ac.2420A>G (p.Lys807Arg)
c.2489A>G (p.Lys830Arg)
c.2417A>G (p.Lys806Arg)
c.2492A>G (p.Lys831Arg)
c.2198A>G (p.Lys733Arg)
c.2036A>G (p.Lys679Arg)
n.2578A>G
4g.123256095A>TCA358230674AFG2Ac.2420A>T (p.Lys807Met)
c.2489A>T (p.Lys830Met)
c.2417A>T (p.Lys806Met)
c.2492A>T (p.Lys831Met)
c.2198A>T (p.Lys733Met)
c.2036A>T (p.Lys679Met)
n.2578A>T
 gnomAD v4
4g.123256096G>ACA441237399AFG2Ac.2421G>A (p.Lys807=)
c.2490G>A (p.Lys830=)
c.2418G>A (p.Lys806=)
c.2493G>A (p.Lys831=)
c.2199G>A (p.Lys733=)
c.2037G>A (p.Lys679=)
n.2579G>A
4g.123256096G>CCA358230676AFG2Ac.2421G>C (p.Lys807Asn)
c.2490G>C (p.Lys830Asn)
c.2418G>C (p.Lys806Asn)
c.2493G>C (p.Lys831Asn)
c.2199G>C (p.Lys733Asn)
c.2037G>C (p.Lys679Asn)
n.2579G>C
4g.123256096G>TCA358230677AFG2Ac.2421G>T (p.Lys807Asn)
c.2490G>T (p.Lys830Asn)
c.2418G>T (p.Lys806Asn)
c.2493G>T (p.Lys831Asn)
c.2199G>T (p.Lys733Asn)
c.2037G>T (p.Lys679Asn)
n.2579G>T
4g.123256097C>ACA358230678AFG2Ac.2422C>A (p.Leu808Met)
c.2491C>A (p.Leu831Met)
c.2419C>A (p.Leu807Met)
c.2494C>A (p.Leu832Met)
c.2200C>A (p.Leu734Met)
c.2038C>A (p.Leu680Met)
n.2580C>A
4g.123256097C>GCA358230679AFG2Ac.2422C>G (p.Leu808Val)
c.2491C>G (p.Leu831Val)
c.2419C>G (p.Leu807Val)
c.2494C>G (p.Leu832Val)
c.2200C>G (p.Leu734Val)
c.2038C>G (p.Leu680Val)
n.2580C>G
4g.123256097C>TCA441237400AFG2Ac.2422C>T (p.Leu808=)
c.2491C>T (p.Leu831=)
c.2419C>T (p.Leu807=)
c.2494C>T (p.Leu832=)
c.2200C>T (p.Leu734=)
c.2038C>T (p.Leu680=)
n.2580C>T
4g.123256098T>ACA358230680AFG2Ac.2423T>A (p.Leu808Gln)
c.2492T>A (p.Leu831Gln)
c.2420T>A (p.Leu807Gln)
c.2495T>A (p.Leu832Gln)
c.2201T>A (p.Leu734Gln)
c.2039T>A (p.Leu680Gln)
n.2581T>A
4g.123256098T>CCA358230682AFG2Ac.2423T>C (p.Leu808Pro)
c.2492T>C (p.Leu831Pro)
c.2420T>C (p.Leu807Pro)
c.2495T>C (p.Leu832Pro)
c.2201T>C (p.Leu734Pro)
c.2039T>C (p.Leu680Pro)
n.2581T>C
4g.123256098T>GCA358230681AFG2Ac.2423T>G (p.Leu808Arg)
c.2492T>G (p.Leu831Arg)
c.2420T>G (p.Leu807Arg)
c.2495T>G (p.Leu832Arg)
c.2201T>G (p.Leu734Arg)
c.2039T>G (p.Leu680Arg)
n.2581T>G
4g.123256099G>ACA441237402AFG2Ac.2424G>A (p.Leu808=)
c.2493G>A (p.Leu831=)
c.2421G>A (p.Leu807=)
c.2496G>A (p.Leu832=)
c.2202G>A (p.Leu734=)
c.2040G>A (p.Leu680=)
n.2582G>A
4g.123256099G>CCA441237403AFG2Ac.2424G>C (p.Leu808=)
c.2493G>C (p.Leu831=)
c.2421G>C (p.Leu807=)
c.2496G>C (p.Leu832=)
c.2202G>C (p.Leu734=)
c.2040G>C (p.Leu680=)
n.2582G>C
4g.123256099G>TCA441237401AFG2Ac.2424G>T (p.Leu808=)
c.2493G>T (p.Leu831=)
c.2421G>T (p.Leu807=)
c.2496G>T (p.Leu832=)
c.2202G>T (p.Leu734=)
c.2040G>T (p.Leu680=)
n.2582G>T
4g.123256100C>ACA358230683AFG2Ac.2425C>A (p.Gln809Lys)
c.2494C>A (p.Gln832Lys)
c.2422C>A (p.Gln808Lys)
c.2497C>A (p.Gln833Lys)
c.2203C>A (p.Gln735Lys)
c.2041C>A (p.Gln681Lys)
n.2583C>A
 dbSNP gnomAD v4
4g.123256100C=CA1490644538AFG2Ac.2425C= (p.Gln809=)
c.2494C= (p.Gln832=)
c.2422C= (p.Gln808=)
c.2497C= (p.Gln833=)
c.2203C= (p.Gln735=)
c.2041C= (p.Gln681=)
n.2583C=
4g.123256100C>GCA358230684AFG2Ac.2425C>G (p.Gln809Glu)
c.2494C>G (p.Gln832Glu)
c.2422C>G (p.Gln808Glu)
c.2497C>G (p.Gln833Glu)
c.2203C>G (p.Gln735Glu)
c.2041C>G (p.Gln681Glu)
n.2583C>G
4g.123256100C>TCA3070730AFG2Ac.2425C>T (p.Gln809Ter)
c.2494C>T (p.Gln832Ter)
c.2422C>T (p.Gln808Ter)
c.2497C>T (p.Gln833Ter)
c.2203C>T (p.Gln735Ter)
c.2041C>T (p.Gln681Ter)
n.2583C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.123256101A>CCA358230685AFG2Ac.2426A>C (p.Gln809Pro)
c.2495A>C (p.Gln832Pro)
c.2423A>C (p.Gln808Pro)
c.2498A>C (p.Gln833Pro)
c.2204A>C (p.Gln735Pro)
c.2042A>C (p.Gln681Pro)
n.2584A>C
4g.123256101A>GCA358230686AFG2Ac.2426A>G (p.Gln809Arg)
c.2495A>G (p.Gln832Arg)
c.2423A>G (p.Gln808Arg)
c.2498A>G (p.Gln833Arg)
c.2204A>G (p.Gln735Arg)
c.2042A>G (p.Gln681Arg)
n.2584A>G
 gnomAD v4
4g.123256101A>TCA358230687AFG2Ac.2426A>T (p.Gln809Leu)
c.2495A>T (p.Gln832Leu)
c.2423A>T (p.Gln808Leu)
c.2498A>T (p.Gln833Leu)
c.2204A>T (p.Gln735Leu)
c.2042A>T (p.Gln681Leu)
n.2584A>T
4g.123256102G>ACA441237404AFG2Ac.2427G>A (p.Gln809=)
c.2496G>A (p.Gln832=)
c.2424G>A (p.Gln808=)
c.2499G>A (p.Gln833=)
c.2205G>A (p.Gln735=)
c.2043G>A (p.Gln681=)
n.2585G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.123256102G>CCA3070731AFG2Ac.2427G>C (p.Gln809His)
c.2496G>C (p.Gln832His)
c.2424G>C (p.Gln808His)
c.2499G>C (p.Gln833His)
c.2205G>C (p.Gln735His)
c.2043G>C (p.Gln681His)
n.2585G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.123256102G=CA1490644545AFG2Ac.2427G= (p.Gln809=)
c.2496G= (p.Gln832=)
c.2424G= (p.Gln808=)
c.2499G= (p.Gln833=)
c.2205G= (p.Gln735=)
c.2043G= (p.Gln681=)
n.2585G=
4g.123256102G>TCA358230688AFG2Ac.2427G>T (p.Gln809His)
c.2496G>T (p.Gln832His)
c.2424G>T (p.Gln808His)
c.2499G>T (p.Gln833His)
c.2205G>T (p.Gln735His)
c.2043G>T (p.Gln681His)
n.2585G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.123256103T>ACA358230689AFG2Ac.2428T>A (p.Phe810Ile)
c.2497T>A (p.Phe833Ile)
c.2425T>A (p.Phe809Ile)
c.2500T>A (p.Phe834Ile)
c.2206T>A (p.Phe736Ile)
c.2044T>A (p.Phe682Ile)
n.2586T>A
4g.123256103T>CCA358230690AFG2Ac.2428T>C (p.Phe810Leu)
c.2497T>C (p.Phe833Leu)
c.2425T>C (p.Phe809Leu)
c.2500T>C (p.Phe834Leu)
c.2206T>C (p.Phe736Leu)
c.2044T>C (p.Phe682Leu)
n.2586T>C
4g.123256103T>GCA358230691AFG2Ac.2428T>G (p.Phe810Val)
c.2497T>G (p.Phe833Val)
c.2425T>G (p.Phe809Val)
c.2500T>G (p.Phe834Val)
c.2206T>G (p.Phe736Val)
c.2044T>G (p.Phe682Val)
n.2586T>G
4g.123256104T>ACA358230693AFG2Ac.2429T>A (p.Phe810Tyr)
c.2498T>A (p.Phe833Tyr)
c.2426T>A (p.Phe809Tyr)
c.2501T>A (p.Phe834Tyr)
c.2207T>A (p.Phe736Tyr)
c.2045T>A (p.Phe682Tyr)
n.2587T>A
4g.123256104T>CCA358230694AFG2Ac.2429T>C (p.Phe810Ser)
c.2498T>C (p.Phe833Ser)
c.2426T>C (p.Phe809Ser)
c.2501T>C (p.Phe834Ser)
c.2207T>C (p.Phe736Ser)
c.2045T>C (p.Phe682Ser)
n.2587T>C
4g.123256104T>GCA358230692AFG2Ac.2429T>G (p.Phe810Cys)
c.2498T>G (p.Phe833Cys)
c.2426T>G (p.Phe809Cys)
c.2501T>G (p.Phe834Cys)
c.2207T>G (p.Phe736Cys)
c.2045T>G (p.Phe682Cys)
n.2587T>G
4g.123256105T>ACA358230695AFG2Ac.2430T>A (p.Phe810Leu)
c.2499T>A (p.Phe833Leu)
c.2427T>A (p.Phe809Leu)
c.2502T>A (p.Phe834Leu)
c.2208T>A (p.Phe736Leu)
c.2046T>A (p.Phe682Leu)
n.2588T>A
4g.123256105T>CCA441237405AFG2Ac.2430T>C (p.Phe810=)
c.2499T>C (p.Phe833=)
c.2427T>C (p.Phe809=)
c.2502T>C (p.Phe834=)
c.2208T>C (p.Phe736=)
c.2046T>C (p.Phe682=)
n.2588T>C
4g.123256105T>GCA358230696AFG2Ac.2430T>G (p.Phe810Leu)
c.2499T>G (p.Phe833Leu)
c.2427T>G (p.Phe809Leu)
c.2502T>G (p.Phe834Leu)
c.2208T>G (p.Phe736Leu)
c.2046T>G (p.Phe682Leu)
n.2588T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.123256105T=CA1490644550AFG2Ac.2430T= (p.Phe810=)
c.2499T= (p.Phe833=)
c.2427T= (p.Phe809=)
c.2502T= (p.Phe834=)
c.2208T= (p.Phe736=)
c.2046T= (p.Phe682=)
n.2588T=
4g.123256106C>ACA358230697AFG2Ac.2431C>A (p.His811Asn)
c.2500C>A (p.His834Asn)
c.2428C>A (p.His810Asn)
c.2503C>A (p.His835Asn)
c.2209C>A (p.His737Asn)
c.2047C>A (p.His683Asn)
n.2589C>A
4g.123256106C>GCA358230698AFG2Ac.2431C>G (p.His811Asp)
c.2500C>G (p.His834Asp)
c.2428C>G (p.His810Asp)
c.2503C>G (p.His835Asp)
c.2209C>G (p.His737Asp)
c.2047C>G (p.His683Asp)
n.2589C>G
4g.123256106C>TCA358230699AFG2Ac.2431C>T (p.His811Tyr)
c.2500C>T (p.His834Tyr)
c.2428C>T (p.His810Tyr)
c.2503C>T (p.His835Tyr)
c.2209C>T (p.His737Tyr)
c.2047C>T (p.His683Tyr)
n.2589C>T
4g.123256107A>CCA358230700AFG2Ac.2432A>C (p.His811Pro)
c.2501A>C (p.His834Pro)
c.2429A>C (p.His810Pro)
c.2504A>C (p.His835Pro)
c.2210A>C (p.His737Pro)
c.2048A>C (p.His683Pro)
n.2590A>C
4g.123256107A>GCA358230701AFG2Ac.2432A>G (p.His811Arg)
c.2501A>G (p.His834Arg)
c.2429A>G (p.His810Arg)
c.2504A>G (p.His835Arg)
c.2210A>G (p.His737Arg)
c.2048A>G (p.His683Arg)
n.2590A>G
 gnomAD v4
4g.123256107A>TCA358230702AFG2Ac.2432A>T (p.His811Leu)
c.2501A>T (p.His834Leu)
c.2429A>T (p.His810Leu)
c.2504A>T (p.His835Leu)
c.2210A>T (p.His737Leu)
c.2048A>T (p.His683Leu)
n.2590A>T
4g.123256108C>ACA358230703AFG2Ac.2433C>A (p.His811Gln)
c.2502C>A (p.His834Gln)
c.2430C>A (p.His810Gln)
c.2505C>A (p.His835Gln)
c.2211C>A (p.His737Gln)
c.2049C>A (p.His683Gln)
n.2591C>A
4g.123256108C=CA1490644555AFG2Ac.2433C= (p.His811=)
c.2502C= (p.His834=)
c.2430C= (p.His810=)
c.2505C= (p.His835=)
c.2211C= (p.His737=)
c.2049C= (p.His683=)
n.2591C=
4g.123256108C>GCA358230704AFG2Ac.2433C>G (p.His811Gln)
c.2502C>G (p.His834Gln)
c.2430C>G (p.His810Gln)
c.2505C>G (p.His835Gln)
c.2211C>G (p.His737Gln)
c.2049C>G (p.His683Gln)
n.2591C>G
4g.123256108C>TCA441237406AFG2Ac.2433C>T (p.His811=)
c.2502C>T (p.His834=)
c.2430C>T (p.His810=)
c.2505C>T (p.His835=)
c.2211C>T (p.His737=)
c.2049C>T (p.His683=)
n.2591C>T
 dbSNP
4g.123256109T>ACA358230705AFG2Ac.2434T>A (p.Ser812Thr)
c.2503T>A (p.Ser835Thr)
c.2431T>A (p.Ser811Thr)
c.2506T>A (p.Ser836Thr)
c.2212T>A (p.Ser738Thr)
c.2050T>A (p.Ser684Thr)
n.2592T>A
4g.123256109T>CCA358230706AFG2Ac.2434T>C (p.Ser812Pro)
c.2503T>C (p.Ser835Pro)
c.2431T>C (p.Ser811Pro)
c.2506T>C (p.Ser836Pro)
c.2212T>C (p.Ser738Pro)
c.2050T>C (p.Ser684Pro)
n.2592T>C
4g.123256109T>GCA358230707AFG2Ac.2434T>G (p.Ser812Ala)
c.2503T>G (p.Ser835Ala)
c.2431T>G (p.Ser811Ala)
c.2506T>G (p.Ser836Ala)
c.2212T>G (p.Ser738Ala)
c.2050T>G (p.Ser684Ala)
n.2592T>G
4g.123256110C>ACA358230710AFG2Ac.2435C>A (p.Ser812Tyr)
c.2504C>A (p.Ser835Tyr)
c.2432C>A (p.Ser811Tyr)
c.2507C>A (p.Ser836Tyr)
c.2213C>A (p.Ser738Tyr)
c.2051C>A (p.Ser684Tyr)
n.2593C>A
4g.123256110C>GCA358230709AFG2Ac.2435C>G (p.Ser812Cys)
c.2504C>G (p.Ser835Cys)
c.2432C>G (p.Ser811Cys)
c.2507C>G (p.Ser836Cys)
c.2213C>G (p.Ser738Cys)
c.2051C>G (p.Ser684Cys)
n.2593C>G
4g.123256110C>TCA358230708AFG2Ac.2435C>T (p.Ser812Phe)
c.2504C>T (p.Ser835Phe)
c.2432C>T (p.Ser811Phe)
c.2507C>T (p.Ser836Phe)
c.2213C>T (p.Ser738Phe)
c.2051C>T (p.Ser684Phe)
n.2593C>T
4g.123256111C>ACA441237407AFG2Ac.2436C>A (p.Ser812=)
c.2505C>A (p.Ser835=)
c.2433C>A (p.Ser811=)
c.2508C>A (p.Ser836=)
c.2214C>A (p.Ser738=)
c.2052C>A (p.Ser684=)
n.2594C>A
4g.123256111C>GCA441237409AFG2Ac.2436C>G (p.Ser812=)
c.2505C>G (p.Ser835=)
c.2433C>G (p.Ser811=)
c.2508C>G (p.Ser836=)
c.2214C>G (p.Ser738=)
c.2052C>G (p.Ser684=)
n.2594C>G
4g.123256111C>TCA441237408AFG2Ac.2436C>T (p.Ser812=)
c.2505C>T (p.Ser835=)
c.2433C>T (p.Ser811=)
c.2508C>T (p.Ser836=)
c.2214C>T (p.Ser738=)
c.2052C>T (p.Ser684=)
n.2594C>T
4g.123256112A=CA1490644558AFG2Ac.2437A= (p.Met813=)
c.2506A= (p.Met836=)
c.2434A= (p.Met812=)
c.2509A= (p.Met837=)
c.2215A= (p.Met739=)
c.2053A= (p.Met685=)
n.2595A=
4g.123256112A>CCA358230711AFG2Ac.2437A>C (p.Met813Leu)
c.2506A>C (p.Met836Leu)
c.2434A>C (p.Met812Leu)
c.2509A>C (p.Met837Leu)
c.2215A>C (p.Met739Leu)
c.2053A>C (p.Met685Leu)
n.2595A>C
4g.123256112A>GCA3070732AFG2Ac.2437A>G (p.Met813Val)
c.2506A>G (p.Met836Val)
c.2434A>G (p.Met812Val)
c.2509A>G (p.Met837Val)
c.2215A>G (p.Met739Val)
c.2053A>G (p.Met685Val)
n.2595A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.123256112A>TCA358230712AFG2Ac.2437A>T (p.Met813Leu)
c.2506A>T (p.Met836Leu)
c.2434A>T (p.Met812Leu)
c.2509A>T (p.Met837Leu)
c.2215A>T (p.Met739Leu)
c.2053A>T (p.Met685Leu)
n.2595A>T
4g.123256113T>ACA358230713AFG2Ac.2438T>A (p.Met813Lys)
c.2507T>A (p.Met836Lys)
c.2435T>A (p.Met812Lys)
c.2510T>A (p.Met837Lys)
c.2216T>A (p.Met739Lys)
c.2054T>A (p.Met685Lys)
n.2596T>A
4g.123256113T>CCA3070733AFG2Ac.2438T>C (p.Met813Thr)
c.2507T>C (p.Met836Thr)
c.2435T>C (p.Met812Thr)
c.2510T>C (p.Met837Thr)
c.2216T>C (p.Met739Thr)
c.2054T>C (p.Met685Thr)
n.2596T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.123256113T>GCA358230714AFG2Ac.2438T>G (p.Met813Arg)
c.2507T>G (p.Met836Arg)
c.2435T>G (p.Met812Arg)
c.2510T>G (p.Met837Arg)
c.2216T>G (p.Met739Arg)
c.2054T>G (p.Met685Arg)
n.2596T>G
4g.123256113T=CA1490644561AFG2Ac.2438T= (p.Met813=)
c.2507T= (p.Met836=)
c.2435T= (p.Met812=)
c.2510T= (p.Met837=)
c.2216T= (p.Met739=)
c.2054T= (p.Met685=)
n.2596T=
4g.123256114G>ACA358230715AFG2Ac.2439G>A (p.Met813Ile)
c.2508G>A (p.Met836Ile)
c.2436G>A (p.Met812Ile)
c.2511G>A (p.Met837Ile)
c.2217G>A (p.Met739Ile)
c.2055G>A (p.Met685Ile)
n.2597G>A
4g.123256114G>CCA358230716AFG2Ac.2439G>C (p.Met813Ile)
c.2508G>C (p.Met836Ile)
c.2436G>C (p.Met812Ile)
c.2511G>C (p.Met837Ile)
c.2217G>C (p.Met739Ile)
c.2055G>C (p.Met685Ile)
n.2597G>C
4g.123256114G>TCA358230717AFG2Ac.2439G>T (p.Met813Ile)
c.2508G>T (p.Met836Ile)
c.2436G>T (p.Met812Ile)
c.2511G>T (p.Met837Ile)
c.2217G>T (p.Met739Ile)
c.2055G>T (p.Met685Ile)
n.2597G>T
4g.123256115C>ACA358230718AFG2Ac.2440C>A (p.Pro814Thr)
c.2509C>A (p.Pro837Thr)
c.2437C>A (p.Pro813Thr)
c.2512C>A (p.Pro838Thr)
c.2218C>A (p.Pro740Thr)
c.2056C>A (p.Pro686Thr)
n.2598C>A
4g.123256115C=CA1490644566AFG2Ac.2440C= (p.Pro814=)
c.2509C= (p.Pro837=)
c.2437C= (p.Pro813=)
c.2512C= (p.Pro838=)
c.2218C= (p.Pro740=)
c.2056C= (p.Pro686=)
n.2598C=
4g.123256115C>GCA358230719AFG2Ac.2440C>G (p.Pro814Ala)
c.2509C>G (p.Pro837Ala)
c.2437C>G (p.Pro813Ala)
c.2512C>G (p.Pro838Ala)
c.2218C>G (p.Pro740Ala)
c.2056C>G (p.Pro686Ala)
n.2598C>G
4g.123256115C>TCA358230720AFG2Ac.2440C>T (p.Pro814Ser)
c.2509C>T (p.Pro837Ser)
c.2437C>T (p.Pro813Ser)
c.2512C>T (p.Pro838Ser)
c.2218C>T (p.Pro740Ser)
c.2056C>T (p.Pro686Ser)
n.2598C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.123256116C>ACA358230723AFG2Ac.2441C>A (p.Pro814His)
c.2510C>A (p.Pro837His)
c.2438C>A (p.Pro813His)
c.2513C>A (p.Pro838His)
c.2219C>A (p.Pro740His)
c.2057C>A (p.Pro686His)
n.2599C>A
4g.123256116C>GCA358230722AFG2Ac.2441C>G (p.Pro814Arg)
c.2510C>G (p.Pro837Arg)
c.2438C>G (p.Pro813Arg)
c.2513C>G (p.Pro838Arg)
c.2219C>G (p.Pro740Arg)
c.2057C>G (p.Pro686Arg)
n.2599C>G
 gnomAD v4
4g.123256116C>TCA358230721AFG2Ac.2441C>T (p.Pro814Leu)
c.2510C>T (p.Pro837Leu)
c.2438C>T (p.Pro813Leu)
c.2513C>T (p.Pro838Leu)
c.2219C>T (p.Pro740Leu)
c.2057C>T (p.Pro686Leu)
n.2599C>T
4g.123256117T>ACA441237410AFG2Ac.2442T>A (p.Pro814=)
c.2511T>A (p.Pro837=)
c.2439T>A (p.Pro813=)
c.2514T>A (p.Pro838=)
c.2220T>A (p.Pro740=)
c.2058T>A (p.Pro686=)
n.2600T>A
4g.123256117T>CCA441237411AFG2Ac.2442T>C (p.Pro814=)
c.2511T>C (p.Pro837=)
c.2439T>C (p.Pro813=)
c.2514T>C (p.Pro838=)
c.2220T>C (p.Pro740=)
c.2058T>C (p.Pro686=)
n.2600T>C
4g.123256117T>GCA441237412AFG2Ac.2442T>G (p.Pro814=)
c.2511T>G (p.Pro837=)
c.2439T>G (p.Pro813=)
c.2514T>G (p.Pro838=)
c.2220T>G (p.Pro740=)
c.2058T>G (p.Pro686=)
n.2600T>G
4g.123256118G>ACA358230724AFG2Ac.2443G>A (p.Val815Ile)
c.2512G>A (p.Val838Ile)
c.2440G>A (p.Val814Ile)
c.2515G>A (p.Val839Ile)
c.2221G>A (p.Val741Ile)
c.2059G>A (p.Val687Ile)
n.2601G>A
4g.123256118G>CCA358230725AFG2Ac.2443G>C (p.Val815Leu)
c.2512G>C (p.Val838Leu)
c.2440G>C (p.Val814Leu)
c.2515G>C (p.Val839Leu)
c.2221G>C (p.Val741Leu)
c.2059G>C (p.Val687Leu)
n.2601G>C
4g.123256118G>TCA358230726AFG2Ac.2443G>T (p.Val815Phe)
c.2512G>T (p.Val838Phe)
c.2440G>T (p.Val814Phe)
c.2515G>T (p.Val839Phe)
c.2221G>T (p.Val741Phe)
c.2059G>T (p.Val687Phe)
n.2601G>T
4g.123256119T>ACA358230727AFG2Ac.2444T>A (p.Val815Asp)
c.2513T>A (p.Val838Asp)
c.2441T>A (p.Val814Asp)
c.2516T>A (p.Val839Asp)
c.2222T>A (p.Val741Asp)
c.2060T>A (p.Val687Asp)
n.2602T>A
4g.123256119T>CCA358230728AFG2Ac.2444T>C (p.Val815Ala)
c.2513T>C (p.Val838Ala)
c.2441T>C (p.Val814Ala)
c.2516T>C (p.Val839Ala)
c.2222T>C (p.Val741Ala)
c.2060T>C (p.Val687Ala)
n.2602T>C
4g.123256119T>GCA358230729AFG2Ac.2444T>G (p.Val815Gly)
c.2513T>G (p.Val838Gly)
c.2441T>G (p.Val814Gly)
c.2516T>G (p.Val839Gly)
c.2222T>G (p.Val741Gly)
c.2060T>G (p.Val687Gly)
n.2602T>G
4g.123256120C>ACA441237414AFG2Ac.2445C>A (p.Val815=)
c.2514C>A (p.Val838=)
c.2442C>A (p.Val814=)
c.2517C>A (p.Val839=)
c.2223C>A (p.Val741=)
c.2061C>A (p.Val687=)
n.2603C>A
 dbSNP gnomAD v3 gnomAD v4
4g.123256120C=CA1490644572AFG2Ac.2445C= (p.Val815=)
c.2514C= (p.Val838=)
c.2442C= (p.Val814=)
c.2517C= (p.Val839=)
c.2223C= (p.Val741=)
c.2061C= (p.Val687=)
n.2603C=
4g.123256120C>GCA441237415AFG2Ac.2445C>G (p.Val815=)
c.2514C>G (p.Val838=)
c.2442C>G (p.Val814=)
c.2517C>G (p.Val839=)
c.2223C>G (p.Val741=)
c.2061C>G (p.Val687=)
n.2603C>G
4g.123256120C>TCA441237413AFG2Ac.2445C>T (p.Val815=)
c.2514C>T (p.Val838=)
c.2442C>T (p.Val814=)
c.2517C>T (p.Val839=)
c.2223C>T (p.Val741=)
c.2061C>T (p.Val687=)
n.2603C>T
 dbSNP gnomAD v2
4g.123256121A>CCA358230732AFG2Ac.2446A>C (p.Ser816Arg)
c.2515A>C (p.Ser839Arg)
c.2443A>C (p.Ser815Arg)
c.2518A>C (p.Ser840Arg)
c.2224A>C (p.Ser742Arg)
c.2062A>C (p.Ser688Arg)
n.2604A>C
4g.123256121A>GCA358230730AFG2Ac.2446A>G (p.Ser816Gly)
c.2515A>G (p.Ser839Gly)
c.2443A>G (p.Ser815Gly)
c.2518A>G (p.Ser840Gly)
c.2224A>G (p.Ser742Gly)
c.2062A>G (p.Ser688Gly)
n.2604A>G
4g.123256121A>TCA358230731AFG2Ac.2446A>T (p.Ser816Cys)
c.2515A>T (p.Ser839Cys)
c.2443A>T (p.Ser815Cys)
c.2518A>T (p.Ser840Cys)
c.2224A>T (p.Ser742Cys)
c.2062A>T (p.Ser688Cys)
n.2604A>T
4g.123256122G>ACA358230733AFG2Ac.2447G>A (p.Ser816Asn)
c.2516G>A (p.Ser839Asn)
c.2444G>A (p.Ser815Asn)
c.2519G>A (p.Ser840Asn)
c.2225G>A (p.Ser742Asn)
c.2063G>A (p.Ser688Asn)
n.2605G>A
 gnomAD v4
4g.123256122G>CCA358230734AFG2Ac.2447G>C (p.Ser816Thr)
c.2516G>C (p.Ser839Thr)
c.2444G>C (p.Ser815Thr)
c.2519G>C (p.Ser840Thr)
c.2225G>C (p.Ser742Thr)
c.2063G>C (p.Ser688Thr)
n.2605G>C
4g.123256122G>TCA358230735AFG2Ac.2447G>T (p.Ser816Ile)
c.2516G>T (p.Ser839Ile)
c.2444G>T (p.Ser815Ile)
c.2519G>T (p.Ser840Ile)
c.2225G>T (p.Ser742Ile)
c.2063G>T (p.Ser688Ile)
n.2605G>T
4g.123256123T>ACA358230736AFG2Ac.2448T>A (p.Ser816Arg)
c.2517T>A (p.Ser839Arg)
c.2445T>A (p.Ser815Arg)
c.2520T>A (p.Ser840Arg)
c.2226T>A (p.Ser742Arg)
c.2064T>A (p.Ser688Arg)
n.2606T>A
4g.123256123T>CCA441237416AFG2Ac.2448T>C (p.Ser816=)
c.2517T>C (p.Ser839=)
c.2445T>C (p.Ser815=)
c.2520T>C (p.Ser840=)
c.2226T>C (p.Ser742=)
c.2064T>C (p.Ser688=)
n.2606T>C
4g.123256123T>GCA358230737AFG2Ac.2448T>G (p.Ser816Arg)
c.2517T>G (p.Ser839Arg)
c.2445T>G (p.Ser815Arg)
c.2520T>G (p.Ser840Arg)
c.2226T>G (p.Ser742Arg)
c.2064T>G (p.Ser688Arg)
n.2606T>G
4g.123256124A=CA1490644576AFG2Ac.2449A= (p.Asn817=)
c.2518A= (p.Asn840=)
c.2446A= (p.Asn816=)
c.2521A= (p.Asn841=)
c.2227A= (p.Asn743=)
c.2065A= (p.Asn689=)
n.2607A=
4g.123256124A>CCA358230738AFG2Ac.2449A>C (p.Asn817His)
c.2518A>C (p.Asn840His)
c.2446A>C (p.Asn816His)
c.2521A>C (p.Asn841His)
c.2227A>C (p.Asn743His)
c.2065A>C (p.Asn689His)
n.2607A>C
4g.123256124A>GCA105289939AFG2Ac.2449A>G (p.Asn817Asp)
c.2518A>G (p.Asn840Asp)
c.2446A>G (p.Asn816Asp)
c.2521A>G (p.Asn841Asp)
c.2227A>G (p.Asn743Asp)
c.2065A>G (p.Asn689Asp)
n.2607A>G
 dbSNP
4g.123256124A>TCA358230739AFG2Ac.2449A>T (p.Asn817Tyr)
c.2518A>T (p.Asn840Tyr)
c.2446A>T (p.Asn816Tyr)
c.2521A>T (p.Asn841Tyr)
c.2227A>T (p.Asn743Tyr)
c.2065A>T (p.Asn689Tyr)
n.2607A>T
4g.123256125A=CA1490644581AFG2Ac.2450A= (p.Asn817=)
c.2519A= (p.Asn840=)
c.2447A= (p.Asn816=)
c.2522A= (p.Asn841=)
c.2228A= (p.Asn743=)
c.2066A= (p.Asn689=)
n.2608A=
4g.123256125A>CCA358230740AFG2Ac.2450A>C (p.Asn817Thr)
c.2519A>C (p.Asn840Thr)
c.2447A>C (p.Asn816Thr)
c.2522A>C (p.Asn841Thr)
c.2228A>C (p.Asn743Thr)
c.2066A>C (p.Asn689Thr)
n.2608A>C
4g.123256125A>GCA358230741AFG2Ac.2450A>G (p.Asn817Ser)
c.2519A>G (p.Asn840Ser)
c.2447A>G (p.Asn816Ser)
c.2522A>G (p.Asn841Ser)
c.2228A>G (p.Asn743Ser)
c.2066A>G (p.Asn689Ser)
n.2608A>G
 dbSNP gnomAD v4
4g.123256125A>TCA358230742AFG2Ac.2450A>T (p.Asn817Ile)
c.2519A>T (p.Asn840Ile)
c.2447A>T (p.Asn816Ile)
c.2522A>T (p.Asn841Ile)
c.2228A>T (p.Asn743Ile)
c.2066A>T (p.Asn689Ile)
n.2608A>T
4g.123256126T>ACA358230743AFG2Ac.2451T>A (p.Asn817Lys)
c.2520T>A (p.Asn840Lys)
c.2448T>A (p.Asn816Lys)
c.2523T>A (p.Asn841Lys)
c.2229T>A (p.Asn743Lys)
c.2067T>A (p.Asn689Lys)
n.2609T>A
4g.123256126T>CCA441237417AFG2Ac.2451T>C (p.Asn817=)
c.2520T>C (p.Asn840=)
c.2448T>C (p.Asn816=)
c.2523T>C (p.Asn841=)
c.2229T>C (p.Asn743=)
c.2067T>C (p.Asn689=)
n.2609T>C
4g.123256126T>GCA358230744AFG2Ac.2451T>G (p.Asn817Lys)
c.2520T>G (p.Asn840Lys)
c.2448T>G (p.Asn816Lys)
c.2523T>G (p.Asn841Lys)
c.2229T>G (p.Asn743Lys)
c.2067T>G (p.Asn689Lys)
n.2609T>G

Number of alleles fetched