Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.104161988T>ACA378091785CFAP43c.3387A>T (p.Glu1129Asp)
c.1469A>T
c.3390A>T (p.Glu1130Asp)
c.3504A>T (p.Glu1168Asp)
c.2733A>T (p.Glu911Asp)
c.1287A>T (p.Glu429Asp)
c.3501A>T (p.Glu1167Asp)
c.3156A>T (p.Glu1052Asp)
c.1890A>T (p.Glu630Asp)
n.3273A>T
10g.104161988T>CCA471342188CFAP43c.3387A>G (p.Glu1129=)
c.1469A>G
c.3390A>G (p.Glu1130=)
c.3504A>G (p.Glu1168=)
c.2733A>G (p.Glu911=)
c.1287A>G (p.Glu429=)
c.3501A>G (p.Glu1167=)
c.3156A>G (p.Glu1052=)
c.1890A>G (p.Glu630=)
n.3273A>G
10g.104161988T>GCA378091786CFAP43c.3387A>C (p.Glu1129Asp)
c.1469A>C
c.3390A>C (p.Glu1130Asp)
c.3504A>C (p.Glu1168Asp)
c.2733A>C (p.Glu911Asp)
c.1287A>C (p.Glu429Asp)
c.3501A>C (p.Glu1167Asp)
c.3156A>C (p.Glu1052Asp)
c.1890A>C (p.Glu630Asp)
n.3273A>C
10g.104161989T>ACA378091788CFAP43c.3386A>T (p.Glu1129Val)
c.1468A>T
c.3389A>T (p.Glu1130Val)
c.3503A>T (p.Glu1168Val)
c.2732A>T (p.Glu911Val)
c.1286A>T (p.Glu429Val)
c.3500A>T (p.Glu1167Val)
c.3155A>T (p.Glu1052Val)
c.1889A>T (p.Glu630Val)
n.3272A>T
10g.104161989T>CCA378091790CFAP43c.3386A>G (p.Glu1129Gly)
c.1468A>G
c.3389A>G (p.Glu1130Gly)
c.3503A>G (p.Glu1168Gly)
c.2732A>G (p.Glu911Gly)
c.1286A>G (p.Glu429Gly)
c.3500A>G (p.Glu1167Gly)
c.3155A>G (p.Glu1052Gly)
c.1889A>G (p.Glu630Gly)
n.3272A>G
10g.104161989T>GCA378091791CFAP43c.3386A>C (p.Glu1129Ala)
c.1468A>C
c.3389A>C (p.Glu1130Ala)
c.3503A>C (p.Glu1168Ala)
c.2732A>C (p.Glu911Ala)
c.1286A>C (p.Glu429Ala)
c.3500A>C (p.Glu1167Ala)
c.3155A>C (p.Glu1052Ala)
c.1889A>C (p.Glu630Ala)
n.3272A>C
10g.104161990C>ACA378091794CFAP43c.3385G>T (p.Glu1129Ter)
c.1467G>T
c.3388G>T (p.Glu1130Ter)
c.3502G>T (p.Glu1168Ter)
c.2731G>T (p.Glu911Ter)
c.1285G>T (p.Glu429Ter)
c.3499G>T (p.Glu1167Ter)
c.3154G>T (p.Glu1052Ter)
c.1888G>T (p.Glu630Ter)
n.3271G>T
10g.104161990C>GCA378091796CFAP43c.3385G>C (p.Glu1129Gln)
c.1467G>C
c.3388G>C (p.Glu1130Gln)
c.3502G>C (p.Glu1168Gln)
c.2731G>C (p.Glu911Gln)
c.1285G>C (p.Glu429Gln)
c.3499G>C (p.Glu1167Gln)
c.3154G>C (p.Glu1052Gln)
c.1888G>C (p.Glu630Gln)
n.3271G>C
10g.104161990C>TCA378091797CFAP43c.3385G>A (p.Glu1129Lys)
c.1467G>A
c.3388G>A (p.Glu1130Lys)
c.3502G>A (p.Glu1168Lys)
c.2731G>A (p.Glu911Lys)
c.1285G>A (p.Glu429Lys)
c.3499G>A (p.Glu1167Lys)
c.3154G>A (p.Glu1052Lys)
c.1888G>A (p.Glu630Lys)
n.3271G>A
10g.104161991C>ACA471342193CFAP43c.3384G>T (p.Leu1128=)
c.1466G>T
c.3387G>T (p.Leu1129=)
c.3501G>T (p.Leu1167=)
c.2730G>T (p.Leu910=)
c.1284G>T (p.Leu428=)
c.3498G>T (p.Leu1166=)
c.3153G>T (p.Leu1051=)
c.1887G>T (p.Leu629=)
n.3270G>T
10g.104161991C>GCA471342194CFAP43c.3384G>C (p.Leu1128=)
c.1466G>C
c.3387G>C (p.Leu1129=)
c.3501G>C (p.Leu1167=)
c.2730G>C (p.Leu910=)
c.1284G>C (p.Leu428=)
c.3498G>C (p.Leu1166=)
c.3153G>C (p.Leu1051=)
c.1887G>C (p.Leu629=)
n.3270G>C
10g.104161991C>TCA471342195CFAP43c.3384G>A (p.Leu1128=)
c.1466G>A
c.3387G>A (p.Leu1129=)
c.3501G>A (p.Leu1167=)
c.2730G>A (p.Leu910=)
c.1284G>A (p.Leu428=)
c.3498G>A (p.Leu1166=)
c.3153G>A (p.Leu1051=)
c.1887G>A (p.Leu629=)
n.3270G>A
10g.104161992A>CCA378091800CFAP43c.3383T>G (p.Leu1128Arg)
c.1465T>G
c.3386T>G (p.Leu1129Arg)
c.3500T>G (p.Leu1167Arg)
c.2729T>G (p.Leu910Arg)
c.1283T>G (p.Leu428Arg)
c.3497T>G (p.Leu1166Arg)
c.3152T>G (p.Leu1051Arg)
c.1886T>G (p.Leu629Arg)
n.3269T>G
10g.104161992A>GCA378091803CFAP43c.3383T>C (p.Leu1128Pro)
c.1465T>C
c.3386T>C (p.Leu1129Pro)
c.3500T>C (p.Leu1167Pro)
c.2729T>C (p.Leu910Pro)
c.1283T>C (p.Leu428Pro)
c.3497T>C (p.Leu1166Pro)
c.3152T>C (p.Leu1051Pro)
c.1886T>C (p.Leu629Pro)
n.3269T>C
10g.104161992A>TCA378091801CFAP43c.3383T>A (p.Leu1128Gln)
c.1465T>A
c.3386T>A (p.Leu1129Gln)
c.3500T>A (p.Leu1167Gln)
c.2729T>A (p.Leu910Gln)
c.1283T>A (p.Leu428Gln)
c.3497T>A (p.Leu1166Gln)
c.3152T>A (p.Leu1051Gln)
c.1886T>A (p.Leu629Gln)
n.3269T>A
10g.104161993G>ACA471342196CFAP43c.3382C>T (p.Leu1128=)
c.1464C>T
c.3385C>T (p.Leu1129=)
c.3499C>T (p.Leu1167=)
c.2728C>T (p.Leu910=)
c.1282C>T (p.Leu428=)
c.3496C>T (p.Leu1166=)
c.3151C>T (p.Leu1051=)
c.1885C>T (p.Leu629=)
n.3268C>T
10g.104161993G>CCA378091804CFAP43c.3382C>G (p.Leu1128Val)
c.1464C>G
c.3385C>G (p.Leu1129Val)
c.3499C>G (p.Leu1167Val)
c.2728C>G (p.Leu910Val)
c.1282C>G (p.Leu428Val)
c.3496C>G (p.Leu1166Val)
c.3151C>G (p.Leu1051Val)
c.1885C>G (p.Leu629Val)
n.3268C>G
10g.104161993G>TCA378091806CFAP43c.3382C>A (p.Leu1128Met)
c.1464C>A
c.3385C>A (p.Leu1129Met)
c.3499C>A (p.Leu1167Met)
c.2728C>A (p.Leu910Met)
c.1282C>A (p.Leu428Met)
c.3496C>A (p.Leu1166Met)
c.3151C>A (p.Leu1051Met)
c.1885C>A (p.Leu629Met)
n.3268C>A
10g.104161994A>CCA471342202CFAP43c.3381T>G (p.Val1127=)
c.1463T>G
c.3384T>G (p.Val1128=)
c.3498T>G (p.Val1166=)
c.2727T>G (p.Val909=)
c.1281T>G (p.Val427=)
c.3495T>G (p.Val1165=)
c.3150T>G (p.Val1050=)
c.1884T>G (p.Val628=)
n.3267T>G
10g.104161994A>GCA471342203CFAP43c.3381T>C (p.Val1127=)
c.1463T>C
c.3384T>C (p.Val1128=)
c.3498T>C (p.Val1166=)
c.2727T>C (p.Val909=)
c.1281T>C (p.Val427=)
c.3495T>C (p.Val1165=)
c.3150T>C (p.Val1050=)
c.1884T>C (p.Val628=)
n.3267T>C
10g.104161994A>TCA471342204CFAP43c.3381T>A (p.Val1127=)
c.1463T>A
c.3384T>A (p.Val1128=)
c.3498T>A (p.Val1166=)
c.2727T>A (p.Val909=)
c.1281T>A (p.Val427=)
c.3495T>A (p.Val1165=)
c.3150T>A (p.Val1050=)
c.1884T>A (p.Val628=)
n.3267T>A
10g.104161995A>CCA378091808CFAP43c.3380T>G (p.Val1127Gly)
c.1462T>G
c.3383T>G (p.Val1128Gly)
c.3497T>G (p.Val1166Gly)
c.2726T>G (p.Val909Gly)
c.1280T>G (p.Val427Gly)
c.3494T>G (p.Val1165Gly)
c.3149T>G (p.Val1050Gly)
c.1883T>G (p.Val628Gly)
n.3266T>G
10g.104161995A>GCA378091809CFAP43c.3380T>C (p.Val1127Ala)
c.1462T>C
c.3383T>C (p.Val1128Ala)
c.3497T>C (p.Val1166Ala)
c.2726T>C (p.Val909Ala)
c.1280T>C (p.Val427Ala)
c.3494T>C (p.Val1165Ala)
c.3149T>C (p.Val1050Ala)
c.1883T>C (p.Val628Ala)
n.3266T>C
10g.104161995A>TCA378091810CFAP43c.3380T>A (p.Val1127Asp)
c.1462T>A
c.3383T>A (p.Val1128Asp)
c.3497T>A (p.Val1166Asp)
c.2726T>A (p.Val909Asp)
c.1280T>A (p.Val427Asp)
c.3494T>A (p.Val1165Asp)
c.3149T>A (p.Val1050Asp)
c.1883T>A (p.Val628Asp)
n.3266T>A
10g.104161996C>ACA378091816CFAP43c.3379G>T (p.Val1127Phe)
c.1461G>T
c.3382G>T (p.Val1128Phe)
c.3496G>T (p.Val1166Phe)
c.2725G>T (p.Val909Phe)
c.1279G>T (p.Val427Phe)
c.3493G>T (p.Val1165Phe)
c.3148G>T (p.Val1050Phe)
c.1882G>T (p.Val628Phe)
n.3265G>T
10g.104161996C>GCA378091814CFAP43c.3379G>C (p.Val1127Leu)
c.1461G>C
c.3382G>C (p.Val1128Leu)
c.3496G>C (p.Val1166Leu)
c.2725G>C (p.Val909Leu)
c.1279G>C (p.Val427Leu)
c.3493G>C (p.Val1165Leu)
c.3148G>C (p.Val1050Leu)
c.1882G>C (p.Val628Leu)
n.3265G>C
10g.104161996C>TCA378091812CFAP43c.3379G>A (p.Val1127Ile)
c.1461G>A
c.3382G>A (p.Val1128Ile)
c.3496G>A (p.Val1166Ile)
c.2725G>A (p.Val909Ile)
c.1279G>A (p.Val427Ile)
c.3493G>A (p.Val1165Ile)
c.3148G>A (p.Val1050Ile)
c.1882G>A (p.Val628Ile)
n.3265G>A
10g.104161997T>ACA471342208CFAP43c.3378A>T (p.Gly1126=)
c.1460A>T
c.3381A>T (p.Gly1127=)
c.3495A>T (p.Gly1165=)
c.2724A>T (p.Gly908=)
c.1278A>T (p.Gly426=)
c.3492A>T (p.Gly1164=)
c.3147A>T (p.Gly1049=)
c.1881A>T (p.Gly627=)
n.3264A>T
10g.104161997T>CCA471342210CFAP43c.3378A>G (p.Gly1126=)
c.1460A>G
c.3381A>G (p.Gly1127=)
c.3495A>G (p.Gly1165=)
c.2724A>G (p.Gly908=)
c.1278A>G (p.Gly426=)
c.3492A>G (p.Gly1164=)
c.3147A>G (p.Gly1049=)
c.1881A>G (p.Gly627=)
n.3264A>G
 gnomAD v4
10g.104161997T>GCA471342211CFAP43c.3378A>C (p.Gly1126=)
c.1460A>C
c.3381A>C (p.Gly1127=)
c.3495A>C (p.Gly1165=)
c.2724A>C (p.Gly908=)
c.1278A>C (p.Gly426=)
c.3492A>C (p.Gly1164=)
c.3147A>C (p.Gly1049=)
c.1881A>C (p.Gly627=)
n.3264A>C
10g.104161998C>ACA212453380CFAP43c.3377G>T (p.Gly1126Val)
c.1459G>T
c.3380G>T (p.Gly1127Val)
c.3494G>T (p.Gly1165Val)
c.2723G>T (p.Gly908Val)
c.1277G>T (p.Gly426Val)
c.3491G>T (p.Gly1164Val)
c.3146G>T (p.Gly1049Val)
c.1880G>T (p.Gly627Val)
n.3263G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104161998C=CA1933459870CFAP43c.3377G= (p.Gly1126=)
c.1459G=
c.3380G= (p.Gly1127=)
c.3494G= (p.Gly1165=)
c.2723G= (p.Gly908=)
c.1277G= (p.Gly426=)
c.3491G= (p.Gly1164=)
c.3146G= (p.Gly1049=)
c.1880G= (p.Gly627=)
n.3263G=
10g.104161998C>GCA378091818CFAP43c.3377G>C (p.Gly1126Ala)
c.1459G>C
c.3380G>C (p.Gly1127Ala)
c.3494G>C (p.Gly1165Ala)
c.2723G>C (p.Gly908Ala)
c.1277G>C (p.Gly426Ala)
c.3491G>C (p.Gly1164Ala)
c.3146G>C (p.Gly1049Ala)
c.1880G>C (p.Gly627Ala)
n.3263G>C
10g.104161998C>TCA378091819CFAP43c.3377G>A (p.Gly1126Glu)
c.1459G>A
c.3380G>A (p.Gly1127Glu)
c.3494G>A (p.Gly1165Glu)
c.2723G>A (p.Gly908Glu)
c.1277G>A (p.Gly426Glu)
c.3491G>A (p.Gly1164Glu)
c.3146G>A (p.Gly1049Glu)
c.1880G>A (p.Gly627Glu)
n.3263G>A
10g.104161999C>ACA378091821CFAP43c.3376G>T (p.Gly1126Ter)
c.1458G>T
c.3379G>T (p.Gly1127Ter)
c.3493G>T (p.Gly1165Ter)
c.2722G>T (p.Gly908Ter)
c.1276G>T (p.Gly426Ter)
c.3490G>T (p.Gly1164Ter)
c.3145G>T (p.Gly1049Ter)
c.1879G>T (p.Gly627Ter)
n.3262G>T
10g.104161999C>GCA378091823CFAP43c.3376G>C (p.Gly1126Arg)
c.1458G>C
c.3379G>C (p.Gly1127Arg)
c.3493G>C (p.Gly1165Arg)
c.2722G>C (p.Gly908Arg)
c.1276G>C (p.Gly426Arg)
c.3490G>C (p.Gly1164Arg)
c.3145G>C (p.Gly1049Arg)
c.1879G>C (p.Gly627Arg)
n.3262G>C
10g.104161999C>TCA378091824CFAP43c.3376G>A (p.Gly1126Arg)
c.1458G>A
c.3379G>A (p.Gly1127Arg)
c.3493G>A (p.Gly1165Arg)
c.2722G>A (p.Gly908Arg)
c.1276G>A (p.Gly426Arg)
c.3490G>A (p.Gly1164Arg)
c.3145G>A (p.Gly1049Arg)
c.1879G>A (p.Gly627Arg)
n.3262G>A
10g.104162000T>ACA471342215CFAP43c.3375A>T (p.Gly1125=)
c.1457A>T
c.3378A>T (p.Gly1126=)
c.3492A>T (p.Gly1164=)
c.2721A>T (p.Gly907=)
c.1275A>T (p.Gly425=)
c.3489A>T (p.Gly1163=)
c.3144A>T (p.Gly1048=)
c.1878A>T (p.Gly626=)
n.3261A>T
10g.104162000T>CCA471342217CFAP43c.3375A>G (p.Gly1125=)
c.1457A>G
c.3378A>G (p.Gly1126=)
c.3492A>G (p.Gly1164=)
c.2721A>G (p.Gly907=)
c.1275A>G (p.Gly425=)
c.3489A>G (p.Gly1163=)
c.3144A>G (p.Gly1048=)
c.1878A>G (p.Gly626=)
n.3261A>G
 gnomAD v4
10g.104162000T>GCA471342216CFAP43c.3375A>C (p.Gly1125=)
c.1457A>C
c.3378A>C (p.Gly1126=)
c.3492A>C (p.Gly1164=)
c.2721A>C (p.Gly907=)
c.1275A>C (p.Gly425=)
c.3489A>C (p.Gly1163=)
c.3144A>C (p.Gly1048=)
c.1878A>C (p.Gly626=)
n.3261A>C
10g.104162000_104162001delinsTCCA1933459872CFAP43c.3374_3375delinsGA (p.Gly1125=)
c.1456_1457delinsGA
c.3377_3378delinsGA (p.Gly1126=)
c.3491_3492delinsGA (p.Gly1164=)
c.2720_2721delinsGA (p.Gly907=)
c.1274_1275delinsGA (p.Gly425=)
c.3488_3489delinsGA (p.Gly1163=)
c.3143_3144delinsGA (p.Gly1048=)
c.1877_1878delinsGA (p.Gly626=)
n.3260_3261delinsGA
10g.104162001C>ACA378091827CFAP43c.3374G>T (p.Gly1125Val)
c.1456G>T
c.3377G>T (p.Gly1126Val)
c.3491G>T (p.Gly1164Val)
c.2720G>T (p.Gly907Val)
c.1274G>T (p.Gly425Val)
c.3488G>T (p.Gly1163Val)
c.3143G>T (p.Gly1048Val)
c.1877G>T (p.Gly626Val)
n.3260G>T
10g.104162001C>GCA378091825CFAP43c.3374G>C (p.Gly1125Ala)
c.1456G>C
c.3377G>C (p.Gly1126Ala)
c.3491G>C (p.Gly1164Ala)
c.2720G>C (p.Gly907Ala)
c.1274G>C (p.Gly425Ala)
c.3488G>C (p.Gly1163Ala)
c.3143G>C (p.Gly1048Ala)
c.1877G>C (p.Gly626Ala)
n.3260G>C
10g.104162001C>TCA378091826CFAP43c.3374G>A (p.Gly1125Glu)
c.1456G>A
c.3377G>A (p.Gly1126Glu)
c.3491G>A (p.Gly1164Glu)
c.2720G>A (p.Gly907Glu)
c.1274G>A (p.Gly425Glu)
c.3488G>A (p.Gly1163Glu)
c.3143G>A (p.Gly1048Glu)
c.1877G>A (p.Gly626Glu)
n.3260G>A
10g.104162003delCA5680316CFAP43c.3374del (p.Gly1125GlufsTer12)
c.1456del
c.3377del (p.Gly1126GlufsTer12)
c.3491del (p.Gly1164GlufsTer12)
c.2720del (p.Gly907GlufsTer12)
c.1274del (p.Gly425GlufsTer12)
c.3488del (p.Gly1163GlufsTer12)
c.3143del (p.Gly1048GlufsTer12)
c.1877del (p.Gly626GlufsTer12)
n.3260del
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162002C>ACA378091828CFAP43c.3373G>T (p.Gly1125Ter)
c.1455G>T
c.3376G>T (p.Gly1126Ter)
c.3490G>T (p.Gly1164Ter)
c.2719G>T (p.Gly907Ter)
c.1273G>T (p.Gly425Ter)
c.3487G>T (p.Gly1163Ter)
c.3142G>T (p.Gly1048Ter)
c.1876G>T (p.Gly626Ter)
n.3259G>T
 COSMIC
10g.104162002C=CA1933459879CFAP43c.3373G= (p.Gly1125=)
c.1455G=
c.3376G= (p.Gly1126=)
c.3490G= (p.Gly1164=)
c.2719G= (p.Gly907=)
c.1273G= (p.Gly425=)
c.3487G= (p.Gly1163=)
c.3142G= (p.Gly1048=)
c.1876G= (p.Gly626=)
n.3259G=
10g.104162002C>GCA378091829CFAP43c.3373G>C (p.Gly1125Arg)
c.1455G>C
c.3376G>C (p.Gly1126Arg)
c.3490G>C (p.Gly1164Arg)
c.2719G>C (p.Gly907Arg)
c.1273G>C (p.Gly425Arg)
c.3487G>C (p.Gly1163Arg)
c.3142G>C (p.Gly1048Arg)
c.1876G>C (p.Gly626Arg)
n.3259G>C
 gnomAD v4
10g.104162002C>TCA5680317CFAP43c.3373G>A (p.Gly1125Arg)
c.1455G>A
c.3376G>A (p.Gly1126Arg)
c.3490G>A (p.Gly1164Arg)
c.2719G>A (p.Gly907Arg)
c.1273G>A (p.Gly425Arg)
c.3487G>A (p.Gly1163Arg)
c.3142G>A (p.Gly1048Arg)
c.1876G>A (p.Gly626Arg)
n.3259G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104162003C>ACA378091831CFAP43c.3372G>T (p.Met1124Ile)
c.1454G>T
c.3375G>T (p.Met1125Ile)
c.3489G>T (p.Met1163Ile)
c.2718G>T (p.Met906Ile)
c.1272G>T (p.Met424Ile)
c.3486G>T (p.Met1162Ile)
c.3141G>T (p.Met1047Ile)
c.1875G>T (p.Met625Ile)
n.3258G>T
10g.104162003C>GCA378091832CFAP43c.3372G>C (p.Met1124Ile)
c.1454G>C
c.3375G>C (p.Met1125Ile)
c.3489G>C (p.Met1163Ile)
c.2718G>C (p.Met906Ile)
c.1272G>C (p.Met424Ile)
c.3486G>C (p.Met1162Ile)
c.3141G>C (p.Met1047Ile)
c.1875G>C (p.Met625Ile)
n.3258G>C
10g.104162003C>TCA378091834CFAP43c.3372G>A (p.Met1124Ile)
c.1454G>A
c.3375G>A (p.Met1125Ile)
c.3489G>A (p.Met1163Ile)
c.2718G>A (p.Met906Ile)
c.1272G>A (p.Met424Ile)
c.3486G>A (p.Met1162Ile)
c.3141G>A (p.Met1047Ile)
c.1875G>A (p.Met625Ile)
n.3258G>A
10g.104162004A=CA1933459882CFAP43c.3371T= (p.Met1124=)
c.1453T=
c.3374T= (p.Met1125=)
c.3488T= (p.Met1163=)
c.2717T= (p.Met906=)
c.1271T= (p.Met424=)
c.3485T= (p.Met1162=)
c.3140T= (p.Met1047=)
c.1874T= (p.Met625=)
n.3257T=
10g.104162004A>CCA378091836CFAP43c.3371T>G (p.Met1124Arg)
c.1453T>G
c.3374T>G (p.Met1125Arg)
c.3488T>G (p.Met1163Arg)
c.2717T>G (p.Met906Arg)
c.1271T>G (p.Met424Arg)
c.3485T>G (p.Met1162Arg)
c.3140T>G (p.Met1047Arg)
c.1874T>G (p.Met625Arg)
n.3257T>G
10g.104162004A>GCA378091838CFAP43c.3371T>C (p.Met1124Thr)
c.1453T>C
c.3374T>C (p.Met1125Thr)
c.3488T>C (p.Met1163Thr)
c.2717T>C (p.Met906Thr)
c.1271T>C (p.Met424Thr)
c.3485T>C (p.Met1162Thr)
c.3140T>C (p.Met1047Thr)
c.1874T>C (p.Met625Thr)
n.3257T>C
 dbSNP
10g.104162004A>TCA378091840CFAP43c.3371T>A (p.Met1124Lys)
c.1453T>A
c.3374T>A (p.Met1125Lys)
c.3488T>A (p.Met1163Lys)
c.2717T>A (p.Met906Lys)
c.1271T>A (p.Met424Lys)
c.3485T>A (p.Met1162Lys)
c.3140T>A (p.Met1047Lys)
c.1874T>A (p.Met625Lys)
n.3257T>A
10g.104162005T>ACA378091842CFAP43c.3370A>T (p.Met1124Leu)
c.1452A>T
c.3373A>T (p.Met1125Leu)
c.3487A>T (p.Met1163Leu)
c.2716A>T (p.Met906Leu)
c.1270A>T (p.Met424Leu)
c.3484A>T (p.Met1162Leu)
c.3139A>T (p.Met1047Leu)
c.1873A>T (p.Met625Leu)
n.3256A>T
10g.104162005T>CCA378091844CFAP43c.3370A>G (p.Met1124Val)
c.1452A>G
c.3373A>G (p.Met1125Val)
c.3487A>G (p.Met1163Val)
c.2716A>G (p.Met906Val)
c.1270A>G (p.Met424Val)
c.3484A>G (p.Met1162Val)
c.3139A>G (p.Met1047Val)
c.1873A>G (p.Met625Val)
n.3256A>G
10g.104162005T>GCA378091845CFAP43c.3370A>C (p.Met1124Leu)
c.1452A>C
c.3373A>C (p.Met1125Leu)
c.3487A>C (p.Met1163Leu)
c.2716A>C (p.Met906Leu)
c.1270A>C (p.Met424Leu)
c.3484A>C (p.Met1162Leu)
c.3139A>C (p.Met1047Leu)
c.1873A>C (p.Met625Leu)
n.3256A>C
10g.104162006C>ACA5680318CFAP43c.3369G>T (p.Met1123Ile)
c.1451G>T
c.3372G>T (p.Met1124Ile)
c.3486G>T (p.Met1162Ile)
c.2715G>T (p.Met905Ile)
c.1269G>T (p.Met423Ile)
c.3483G>T (p.Met1161Ile)
c.3138G>T (p.Met1046Ile)
c.1872G>T (p.Met624Ile)
n.3255G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162006C=CA1933459886CFAP43c.3369G= (p.Met1123=)
c.1451G=
c.3372G= (p.Met1124=)
c.3486G= (p.Met1162=)
c.2715G= (p.Met905=)
c.1269G= (p.Met423=)
c.3483G= (p.Met1161=)
c.3138G= (p.Met1046=)
c.1872G= (p.Met624=)
n.3255G=
10g.104162006C>GCA378091848CFAP43c.3369G>C (p.Met1123Ile)
c.1451G>C
c.3372G>C (p.Met1124Ile)
c.3486G>C (p.Met1162Ile)
c.2715G>C (p.Met905Ile)
c.1269G>C (p.Met423Ile)
c.3483G>C (p.Met1161Ile)
c.3138G>C (p.Met1046Ile)
c.1872G>C (p.Met624Ile)
n.3255G>C
10g.104162006C>TCA378091850CFAP43c.3369G>A (p.Met1123Ile)
c.1451G>A
c.3372G>A (p.Met1124Ile)
c.3486G>A (p.Met1162Ile)
c.2715G>A (p.Met905Ile)
c.1269G>A (p.Met423Ile)
c.3483G>A (p.Met1161Ile)
c.3138G>A (p.Met1046Ile)
c.1872G>A (p.Met624Ile)
n.3255G>A
 gnomAD v4
10g.104162007delCA2610809171CFAP43c.3368del (p.Met1123ArgfsTer14)
c.1450del
c.3371del (p.Met1124ArgfsTer14)
c.3485del (p.Met1162ArgfsTer14)
c.2714del (p.Met905ArgfsTer14)
c.1268del (p.Met423ArgfsTer14)
c.3482del (p.Met1161ArgfsTer14)
c.3137del (p.Met1046ArgfsTer14)
c.1871del (p.Met624ArgfsTer14)
n.3254del
 gnomAD v4
10g.104162007A=CA1933459890CFAP43c.3368T= (p.Met1123=)
c.1450T=
c.3371T= (p.Met1124=)
c.3485T= (p.Met1162=)
c.2714T= (p.Met905=)
c.1268T= (p.Met423=)
c.3482T= (p.Met1161=)
c.3137T= (p.Met1046=)
c.1871T= (p.Met624=)
n.3254T=
10g.104162007A>CCA378091853CFAP43c.3368T>G (p.Met1123Arg)
c.1450T>G
c.3371T>G (p.Met1124Arg)
c.3485T>G (p.Met1162Arg)
c.2714T>G (p.Met905Arg)
c.1268T>G (p.Met423Arg)
c.3482T>G (p.Met1161Arg)
c.3137T>G (p.Met1046Arg)
c.1871T>G (p.Met624Arg)
n.3254T>G
10g.104162007A>GCA212453388CFAP43c.3368T>C (p.Met1123Thr)
c.1450T>C
c.3371T>C (p.Met1124Thr)
c.3485T>C (p.Met1162Thr)
c.2714T>C (p.Met905Thr)
c.1268T>C (p.Met423Thr)
c.3482T>C (p.Met1161Thr)
c.3137T>C (p.Met1046Thr)
c.1871T>C (p.Met624Thr)
n.3254T>C
 dbSNP
10g.104162007A>TCA378091855CFAP43c.3368T>A (p.Met1123Lys)
c.1450T>A
c.3371T>A (p.Met1124Lys)
c.3485T>A (p.Met1162Lys)
c.2714T>A (p.Met905Lys)
c.1268T>A (p.Met423Lys)
c.3482T>A (p.Met1161Lys)
c.3137T>A (p.Met1046Lys)
c.1871T>A (p.Met624Lys)
n.3254T>A
10g.104162008T>ACA378091857CFAP43c.3367A>T (p.Met1123Leu)
c.1449A>T
c.3370A>T (p.Met1124Leu)
c.3484A>T (p.Met1162Leu)
c.2713A>T (p.Met905Leu)
c.1267A>T (p.Met423Leu)
c.3481A>T (p.Met1161Leu)
c.3136A>T (p.Met1046Leu)
c.1870A>T (p.Met624Leu)
n.3253A>T
 gnomAD v4
10g.104162008T>CCA378091859CFAP43c.3367A>G (p.Met1123Val)
c.1449A>G
c.3370A>G (p.Met1124Val)
c.3484A>G (p.Met1162Val)
c.2713A>G (p.Met905Val)
c.1267A>G (p.Met423Val)
c.3481A>G (p.Met1161Val)
c.3136A>G (p.Met1046Val)
c.1870A>G (p.Met624Val)
n.3253A>G
10g.104162008T>GCA378091861CFAP43c.3367A>C (p.Met1123Leu)
c.1449A>C
c.3370A>C (p.Met1124Leu)
c.3484A>C (p.Met1162Leu)
c.2713A>C (p.Met905Leu)
c.1267A>C (p.Met423Leu)
c.3481A>C (p.Met1161Leu)
c.3136A>C (p.Met1046Leu)
c.1870A>C (p.Met624Leu)
n.3253A>C
10g.104162009G>ACA471342231CFAP43c.3366C>T (p.Asp1122=)
c.1448C>T
c.3369C>T (p.Asp1123=)
c.3483C>T (p.Asp1161=)
c.2712C>T (p.Asp904=)
c.1266C>T (p.Asp422=)
c.3480C>T (p.Asp1160=)
c.3135C>T (p.Asp1045=)
c.1869C>T (p.Asp623=)
n.3252C>T
10g.104162009G>CCA378091866CFAP43c.3366C>G (p.Asp1122Glu)
c.1448C>G
c.3369C>G (p.Asp1123Glu)
c.3483C>G (p.Asp1161Glu)
c.2712C>G (p.Asp904Glu)
c.1266C>G (p.Asp422Glu)
c.3480C>G (p.Asp1160Glu)
c.3135C>G (p.Asp1045Glu)
c.1869C>G (p.Asp623Glu)
n.3252C>G
10g.104162009G>TCA378091864CFAP43c.3366C>A (p.Asp1122Glu)
c.1448C>A
c.3369C>A (p.Asp1123Glu)
c.3483C>A (p.Asp1161Glu)
c.2712C>A (p.Asp904Glu)
c.1266C>A (p.Asp422Glu)
c.3480C>A (p.Asp1160Glu)
c.3135C>A (p.Asp1045Glu)
c.1869C>A (p.Asp623Glu)
n.3252C>A
10g.104162010T>ACA378091869CFAP43c.3365A>T (p.Asp1122Val)
c.1447A>T
c.3368A>T (p.Asp1123Val)
c.3482A>T (p.Asp1161Val)
c.2711A>T (p.Asp904Val)
c.1265A>T (p.Asp422Val)
c.3479A>T (p.Asp1160Val)
c.3134A>T (p.Asp1045Val)
c.1868A>T (p.Asp623Val)
n.3251A>T
10g.104162010T>CCA378091871CFAP43c.3365A>G (p.Asp1122Gly)
c.1447A>G
c.3368A>G (p.Asp1123Gly)
c.3482A>G (p.Asp1161Gly)
c.2711A>G (p.Asp904Gly)
c.1265A>G (p.Asp422Gly)
c.3479A>G (p.Asp1160Gly)
c.3134A>G (p.Asp1045Gly)
c.1868A>G (p.Asp623Gly)
n.3251A>G
 gnomAD v4 COSMIC
10g.104162010T>GCA378091873CFAP43c.3365A>C (p.Asp1122Ala)
c.1447A>C
c.3368A>C (p.Asp1123Ala)
c.3482A>C (p.Asp1161Ala)
c.2711A>C (p.Asp904Ala)
c.1265A>C (p.Asp422Ala)
c.3479A>C (p.Asp1160Ala)
c.3134A>C (p.Asp1045Ala)
c.1868A>C (p.Asp623Ala)
n.3251A>C
10g.104162011C>ACA378091876CFAP43c.3364G>T (p.Asp1122Tyr)
c.1446G>T
c.3367G>T (p.Asp1123Tyr)
c.3481G>T (p.Asp1161Tyr)
c.2710G>T (p.Asp904Tyr)
c.1264G>T (p.Asp422Tyr)
c.3478G>T (p.Asp1160Tyr)
c.3133G>T (p.Asp1045Tyr)
c.1867G>T (p.Asp623Tyr)
n.3250G>T
10g.104162011C>GCA378091878CFAP43c.3364G>C (p.Asp1122His)
c.1446G>C
c.3367G>C (p.Asp1123His)
c.3481G>C (p.Asp1161His)
c.2710G>C (p.Asp904His)
c.1264G>C (p.Asp422His)
c.3478G>C (p.Asp1160His)
c.3133G>C (p.Asp1045His)
c.1867G>C (p.Asp623His)
n.3250G>C
10g.104162011C>TCA378091880CFAP43c.3364G>A (p.Asp1122Asn)
c.1446G>A
c.3367G>A (p.Asp1123Asn)
c.3481G>A (p.Asp1161Asn)
c.2710G>A (p.Asp904Asn)
c.1264G>A (p.Asp422Asn)
c.3478G>A (p.Asp1160Asn)
c.3133G>A (p.Asp1045Asn)
c.1867G>A (p.Asp623Asn)
n.3250G>A
10g.104162011_104162012insGACATCA2610809180CFAP43c.3363_3364insATGTC (p.Asp1122MetfsTer4)
c.1445_1446insATGTC
c.3366_3367insATGTC (p.Asp1123MetfsTer4)
c.3480_3481insATGTC (p.Asp1161MetfsTer4)
c.2709_2710insATGTC (p.Asp904MetfsTer4)
c.1263_1264insATGTC (p.Asp422MetfsTer4)
c.3477_3478insATGTC (p.Asp1160MetfsTer4)
c.3132_3133insATGTC (p.Asp1045MetfsTer4)
c.1866_1867insATGTC (p.Asp623MetfsTer4)
n.3249_3250insATGTC
 gnomAD v4
10g.104162012C>ACA378091883CFAP43c.3363G>T (p.Met1121Ile)
c.1445G>T
c.3366G>T (p.Met1122Ile)
c.3480G>T (p.Met1160Ile)
c.2709G>T (p.Met903Ile)
c.1263G>T (p.Met421Ile)
c.3477G>T (p.Met1159Ile)
c.3132G>T (p.Met1044Ile)
c.1866G>T (p.Met622Ile)
n.3249G>T
10g.104162012C=CA1933459892CFAP43c.3363G= (p.Met1121=)
c.1445G=
c.3366G= (p.Met1122=)
c.3480G= (p.Met1160=)
c.2709G= (p.Met903=)
c.1263G= (p.Met421=)
c.3477G= (p.Met1159=)
c.3132G= (p.Met1044=)
c.1866G= (p.Met622=)
n.3249G=
10g.104162012C>GCA5680319CFAP43c.3363G>C (p.Met1121Ile)
c.1445G>C
c.3366G>C (p.Met1122Ile)
c.3480G>C (p.Met1160Ile)
c.2709G>C (p.Met903Ile)
c.1263G>C (p.Met421Ile)
c.3477G>C (p.Met1159Ile)
c.3132G>C (p.Met1044Ile)
c.1866G>C (p.Met622Ile)
n.3249G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162012C>TCA378091885CFAP43c.3363G>A (p.Met1121Ile)
c.1445G>A
c.3366G>A (p.Met1122Ile)
c.3480G>A (p.Met1160Ile)
c.2709G>A (p.Met903Ile)
c.1263G>A (p.Met421Ile)
c.3477G>A (p.Met1159Ile)
c.3132G>A (p.Met1044Ile)
c.1866G>A (p.Met622Ile)
n.3249G>A
10g.104162013A=CA1933459895CFAP43c.3362T= (p.Met1121=)
c.1444T=
c.3365T= (p.Met1122=)
c.3479T= (p.Met1160=)
c.2708T= (p.Met903=)
c.1262T= (p.Met421=)
c.3476T= (p.Met1159=)
c.3131T= (p.Met1044=)
c.1865T= (p.Met622=)
n.3248T=
10g.104162013A>CCA378091888CFAP43c.3362T>G (p.Met1121Arg)
c.1444T>G
c.3365T>G (p.Met1122Arg)
c.3479T>G (p.Met1160Arg)
c.2708T>G (p.Met903Arg)
c.1262T>G (p.Met421Arg)
c.3476T>G (p.Met1159Arg)
c.3131T>G (p.Met1044Arg)
c.1865T>G (p.Met622Arg)
n.3248T>G
10g.104162013A>GCA212453394CFAP43c.3362T>C (p.Met1121Thr)
c.1444T>C
c.3365T>C (p.Met1122Thr)
c.3479T>C (p.Met1160Thr)
c.2708T>C (p.Met903Thr)
c.1262T>C (p.Met421Thr)
c.3476T>C (p.Met1159Thr)
c.3131T>C (p.Met1044Thr)
c.1865T>C (p.Met622Thr)
n.3248T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104162013A>TCA378091890CFAP43c.3362T>A (p.Met1121Lys)
c.1444T>A
c.3365T>A (p.Met1122Lys)
c.3479T>A (p.Met1160Lys)
c.2708T>A (p.Met903Lys)
c.1262T>A (p.Met421Lys)
c.3476T>A (p.Met1159Lys)
c.3131T>A (p.Met1044Lys)
c.1865T>A (p.Met622Lys)
n.3248T>A
10g.104162014T>ACA5680320CFAP43c.3361A>T (p.Met1121Leu)
c.1443A>T
c.3364A>T (p.Met1122Leu)
c.3478A>T (p.Met1160Leu)
c.2707A>T (p.Met903Leu)
c.1261A>T (p.Met421Leu)
c.3475A>T (p.Met1159Leu)
c.3130A>T (p.Met1044Leu)
c.1864A>T (p.Met622Leu)
n.3247A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104162014T>CCA378091893CFAP43c.3361A>G (p.Met1121Val)
c.1443A>G
c.3364A>G (p.Met1122Val)
c.3478A>G (p.Met1160Val)
c.2707A>G (p.Met903Val)
c.1261A>G (p.Met421Val)
c.3475A>G (p.Met1159Val)
c.3130A>G (p.Met1044Val)
c.1864A>G (p.Met622Val)
n.3247A>G
10g.104162014T>GCA378091895CFAP43c.3361A>C (p.Met1121Leu)
c.1443A>C
c.3364A>C (p.Met1122Leu)
c.3478A>C (p.Met1160Leu)
c.2707A>C (p.Met903Leu)
c.1261A>C (p.Met421Leu)
c.3475A>C (p.Met1159Leu)
c.3130A>C (p.Met1044Leu)
c.1864A>C (p.Met622Leu)
n.3247A>C
10g.104162014T=CA1933459899CFAP43c.3361A= (p.Met1121=)
c.1443A=
c.3364A= (p.Met1122=)
c.3478A= (p.Met1160=)
c.2707A= (p.Met903=)
c.1261A= (p.Met421=)
c.3475A= (p.Met1159=)
c.3130A= (p.Met1044=)
c.1864A= (p.Met622=)
n.3247A=
10g.104162015C>ACA471342248CFAP43c.3360G>T (p.Leu1120=)
c.1442G>T
c.3363G>T (p.Leu1121=)
c.3477G>T (p.Leu1159=)
c.2706G>T (p.Leu902=)
c.1260G>T (p.Leu420=)
c.3474G>T (p.Leu1158=)
c.3129G>T (p.Leu1043=)
c.1863G>T (p.Leu621=)
n.3246G>T
10g.104162015C>GCA471342246CFAP43c.3360G>C (p.Leu1120=)
c.1442G>C
c.3363G>C (p.Leu1121=)
c.3477G>C (p.Leu1159=)
c.2706G>C (p.Leu902=)
c.1260G>C (p.Leu420=)
c.3474G>C (p.Leu1158=)
c.3129G>C (p.Leu1043=)
c.1863G>C (p.Leu621=)
n.3246G>C
 gnomAD v4
10g.104162015C>TCA471342247CFAP43c.3360G>A (p.Leu1120=)
c.1442G>A
c.3363G>A (p.Leu1121=)
c.3477G>A (p.Leu1159=)
c.2706G>A (p.Leu902=)
c.1260G>A (p.Leu420=)
c.3474G>A (p.Leu1158=)
c.3129G>A (p.Leu1043=)
c.1863G>A (p.Leu621=)
n.3246G>A
10g.104162016A=CA1933459902CFAP43c.3359T= (p.Leu1120=)
c.1441T=
c.3362T= (p.Leu1121=)
c.3476T= (p.Leu1159=)
c.2705T= (p.Leu902=)
c.1259T= (p.Leu420=)
c.3473T= (p.Leu1158=)
c.3128T= (p.Leu1043=)
c.1862T= (p.Leu621=)
n.3245T=
10g.104162016A>CCA378091897CFAP43c.3359T>G (p.Leu1120Arg)
c.1441T>G
c.3362T>G (p.Leu1121Arg)
c.3476T>G (p.Leu1159Arg)
c.2705T>G (p.Leu902Arg)
c.1259T>G (p.Leu420Arg)
c.3473T>G (p.Leu1158Arg)
c.3128T>G (p.Leu1043Arg)
c.1862T>G (p.Leu621Arg)
n.3245T>G
10g.104162016A>GCA5680321CFAP43c.3359T>C (p.Leu1120Pro)
c.1441T>C
c.3362T>C (p.Leu1121Pro)
c.3476T>C (p.Leu1159Pro)
c.2705T>C (p.Leu902Pro)
c.1259T>C (p.Leu420Pro)
c.3473T>C (p.Leu1158Pro)
c.3128T>C (p.Leu1043Pro)
c.1862T>C (p.Leu621Pro)
n.3245T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162016A>TCA378091900CFAP43c.3359T>A (p.Leu1120Gln)
c.1441T>A
c.3362T>A (p.Leu1121Gln)
c.3476T>A (p.Leu1159Gln)
c.2705T>A (p.Leu902Gln)
c.1259T>A (p.Leu420Gln)
c.3473T>A (p.Leu1158Gln)
c.3128T>A (p.Leu1043Gln)
c.1862T>A (p.Leu621Gln)
n.3245T>A
10g.104162017G>ACA471342253CFAP43c.3358C>T (p.Leu1120=)
c.1440C>T
c.3361C>T (p.Leu1121=)
c.3475C>T (p.Leu1159=)
c.2704C>T (p.Leu902=)
c.1258C>T (p.Leu420=)
c.3472C>T (p.Leu1158=)
c.3127C>T (p.Leu1043=)
c.1861C>T (p.Leu621=)
n.3244C>T
10g.104162017G>CCA378091902CFAP43c.3358C>G (p.Leu1120Val)
c.1440C>G
c.3361C>G (p.Leu1121Val)
c.3475C>G (p.Leu1159Val)
c.2704C>G (p.Leu902Val)
c.1258C>G (p.Leu420Val)
c.3472C>G (p.Leu1158Val)
c.3127C>G (p.Leu1043Val)
c.1861C>G (p.Leu621Val)
n.3244C>G
10g.104162017G>TCA378091904CFAP43c.3358C>A (p.Leu1120Met)
c.1440C>A
c.3361C>A (p.Leu1121Met)
c.3475C>A (p.Leu1159Met)
c.2704C>A (p.Leu902Met)
c.1258C>A (p.Leu420Met)
c.3472C>A (p.Leu1158Met)
c.3127C>A (p.Leu1043Met)
c.1861C>A (p.Leu621Met)
n.3244C>A
10g.104162018A>CCA471342255CFAP43c.3357T>G (p.Ala1119=)
c.1439T>G
c.3360T>G (p.Ala1120=)
c.3474T>G (p.Ala1158=)
c.2703T>G (p.Ala901=)
c.1257T>G (p.Ala419=)
c.3471T>G (p.Ala1157=)
c.3126T>G (p.Ala1042=)
c.1860T>G (p.Ala620=)
n.3243T>G
10g.104162018A>GCA471342257CFAP43c.3357T>C (p.Ala1119=)
c.1439T>C
c.3360T>C (p.Ala1120=)
c.3474T>C (p.Ala1158=)
c.2703T>C (p.Ala901=)
c.1257T>C (p.Ala419=)
c.3471T>C (p.Ala1157=)
c.3126T>C (p.Ala1042=)
c.1860T>C (p.Ala620=)
n.3243T>C
10g.104162018A>TCA471342258CFAP43c.3357T>A (p.Ala1119=)
c.1439T>A
c.3360T>A (p.Ala1120=)
c.3474T>A (p.Ala1158=)
c.2703T>A (p.Ala901=)
c.1257T>A (p.Ala419=)
c.3471T>A (p.Ala1157=)
c.3126T>A (p.Ala1042=)
c.1860T>A (p.Ala620=)
n.3243T>A
10g.104162019G>ACA378091907CFAP43c.3356C>T (p.Ala1119Val)
c.1438C>T
c.3359C>T (p.Ala1120Val)
c.3473C>T (p.Ala1158Val)
c.2702C>T (p.Ala901Val)
c.1256C>T (p.Ala419Val)
c.3470C>T (p.Ala1157Val)
c.3125C>T (p.Ala1042Val)
c.1859C>T (p.Ala620Val)
n.3242C>T
10g.104162019G>CCA378091911CFAP43c.3356C>G (p.Ala1119Gly)
c.1438C>G
c.3359C>G (p.Ala1120Gly)
c.3473C>G (p.Ala1158Gly)
c.2702C>G (p.Ala901Gly)
c.1256C>G (p.Ala419Gly)
c.3470C>G (p.Ala1157Gly)
c.3125C>G (p.Ala1042Gly)
c.1859C>G (p.Ala620Gly)
n.3242C>G
10g.104162019G>TCA378091909CFAP43c.3356C>A (p.Ala1119Asp)
c.1438C>A
c.3359C>A (p.Ala1120Asp)
c.3473C>A (p.Ala1158Asp)
c.2702C>A (p.Ala901Asp)
c.1256C>A (p.Ala419Asp)
c.3470C>A (p.Ala1157Asp)
c.3125C>A (p.Ala1042Asp)
c.1859C>A (p.Ala620Asp)
n.3242C>A
10g.104162020C>ACA378091912CFAP43c.3355G>T (p.Ala1119Ser)
c.1437G>T
c.3358G>T (p.Ala1120Ser)
c.3472G>T (p.Ala1158Ser)
c.2701G>T (p.Ala901Ser)
c.1255G>T (p.Ala419Ser)
c.3469G>T (p.Ala1157Ser)
c.3124G>T (p.Ala1042Ser)
c.1858G>T (p.Ala620Ser)
n.3241G>T
10g.104162020C>GCA378091915CFAP43c.3355G>C (p.Ala1119Pro)
c.1437G>C
c.3358G>C (p.Ala1120Pro)
c.3472G>C (p.Ala1158Pro)
c.2701G>C (p.Ala901Pro)
c.1255G>C (p.Ala419Pro)
c.3469G>C (p.Ala1157Pro)
c.3124G>C (p.Ala1042Pro)
c.1858G>C (p.Ala620Pro)
n.3241G>C
10g.104162020C>TCA378091914CFAP43c.3355G>A (p.Ala1119Thr)
c.1437G>A
c.3358G>A (p.Ala1120Thr)
c.3472G>A (p.Ala1158Thr)
c.2701G>A (p.Ala901Thr)
c.1255G>A (p.Ala419Thr)
c.3469G>A (p.Ala1157Thr)
c.3124G>A (p.Ala1042Thr)
c.1858G>A (p.Ala620Thr)
n.3241G>A
10g.104162021T>ACA471342264CFAP43c.3354A>T (p.Arg1118=)
c.1436A>T
c.3357A>T (p.Arg1119=)
c.3471A>T (p.Arg1157=)
c.2700A>T (p.Arg900=)
c.1254A>T (p.Arg418=)
c.3468A>T (p.Arg1156=)
c.3123A>T (p.Arg1041=)
c.1857A>T (p.Arg619=)
n.3240A>T
10g.104162021T>CCA471342260CFAP43c.3354A>G (p.Arg1118=)
c.1436A>G
c.3357A>G (p.Arg1119=)
c.3471A>G (p.Arg1157=)
c.2700A>G (p.Arg900=)
c.1254A>G (p.Arg418=)
c.3468A>G (p.Arg1156=)
c.3123A>G (p.Arg1041=)
c.1857A>G (p.Arg619=)
n.3240A>G
10g.104162021T>GCA471342262CFAP43c.3354A>C (p.Arg1118=)
c.1436A>C
c.3357A>C (p.Arg1119=)
c.3471A>C (p.Arg1157=)
c.2700A>C (p.Arg900=)
c.1254A>C (p.Arg418=)
c.3468A>C (p.Arg1156=)
c.3123A>C (p.Arg1041=)
c.1857A>C (p.Arg619=)
n.3240A>C
10g.104162022C>ACA378091916CFAP43c.3353G>T (p.Arg1118Leu)
c.1435G>T
c.3356G>T (p.Arg1119Leu)
c.3470G>T (p.Arg1157Leu)
c.2699G>T (p.Arg900Leu)
c.1253G>T (p.Arg418Leu)
c.3467G>T (p.Arg1156Leu)
c.3122G>T (p.Arg1041Leu)
c.1856G>T (p.Arg619Leu)
n.3239G>T
10g.104162022C=CA1933459905CFAP43c.3353G= (p.Arg1118=)
c.1435G=
c.3356G= (p.Arg1119=)
c.3470G= (p.Arg1157=)
c.2699G= (p.Arg900=)
c.1253G= (p.Arg418=)
c.3467G= (p.Arg1156=)
c.3122G= (p.Arg1041=)
c.1856G= (p.Arg619=)
n.3239G=
10g.104162022C>GCA5680322CFAP43c.3353G>C (p.Arg1118Pro)
c.1435G>C
c.3356G>C (p.Arg1119Pro)
c.3470G>C (p.Arg1157Pro)
c.2699G>C (p.Arg900Pro)
c.1253G>C (p.Arg418Pro)
c.3467G>C (p.Arg1156Pro)
c.3122G>C (p.Arg1041Pro)
c.1856G>C (p.Arg619Pro)
n.3239G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162022C>TCA5680323CFAP43c.3353G>A (p.Arg1118Gln)
c.1435G>A
c.3356G>A (p.Arg1119Gln)
c.3470G>A (p.Arg1157Gln)
c.2699G>A (p.Arg900Gln)
c.1253G>A (p.Arg418Gln)
c.3467G>A (p.Arg1156Gln)
c.3122G>A (p.Arg1041Gln)
c.1856G>A (p.Arg619Gln)
n.3239G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.104162023G>ACA5680324CFAP43c.3352C>T (p.Arg1118Ter)
c.1434C>T
c.3355C>T (p.Arg1119Ter)
c.3469C>T (p.Arg1157Ter)
c.2698C>T (p.Arg900Ter)
c.1252C>T (p.Arg418Ter)
c.3466C>T (p.Arg1156Ter)
c.3121C>T (p.Arg1041Ter)
c.1855C>T (p.Arg619Ter)
n.3238C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.104162023G>CCA378091921CFAP43c.3352C>G (p.Arg1118Gly)
c.1434C>G
c.3355C>G (p.Arg1119Gly)
c.3469C>G (p.Arg1157Gly)
c.2698C>G (p.Arg900Gly)
c.1252C>G (p.Arg418Gly)
c.3466C>G (p.Arg1156Gly)
c.3121C>G (p.Arg1041Gly)
c.1855C>G (p.Arg619Gly)
n.3238C>G
 dbSNP gnomAD v4
10g.104162023G=CA1933459912CFAP43c.3352C= (p.Arg1118=)
c.1434C=
c.3355C= (p.Arg1119=)
c.3469C= (p.Arg1157=)
c.2698C= (p.Arg900=)
c.1252C= (p.Arg418=)
c.3466C= (p.Arg1156=)
c.3121C= (p.Arg1041=)
c.1855C= (p.Arg619=)
n.3238C=
10g.104162023G>TCA471342269CFAP43c.3352C>A (p.Arg1118=)
c.1434C>A
c.3355C>A (p.Arg1119=)
c.3469C>A (p.Arg1157=)
c.2698C>A (p.Arg900=)
c.1252C>A (p.Arg418=)
c.3466C>A (p.Arg1156=)
c.3121C>A (p.Arg1041=)
c.1855C>A (p.Arg619=)
n.3238C>A
10g.104162024G>ACA5680325CFAP43c.3351C>T (p.Leu1117=)
c.1433C>T
c.3354C>T (p.Leu1118=)
c.3468C>T (p.Leu1156=)
c.2697C>T (p.Leu899=)
c.1251C>T (p.Leu417=)
c.3465C>T (p.Leu1155=)
c.3120C>T (p.Leu1040=)
c.1854C>T (p.Leu618=)
n.3237C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162024G>CCA471342270CFAP43c.3351C>G (p.Leu1117=)
c.1433C>G
c.3354C>G (p.Leu1118=)
c.3468C>G (p.Leu1156=)
c.2697C>G (p.Leu899=)
c.1251C>G (p.Leu417=)
c.3465C>G (p.Leu1155=)
c.3120C>G (p.Leu1040=)
c.1854C>G (p.Leu618=)
n.3237C>G
 dbSNP
10g.104162024G=CA1933459917CFAP43c.3351C= (p.Leu1117=)
c.1433C=
c.3354C= (p.Leu1118=)
c.3468C= (p.Leu1156=)
c.2697C= (p.Leu899=)
c.1251C= (p.Leu417=)
c.3465C= (p.Leu1155=)
c.3120C= (p.Leu1040=)
c.1854C= (p.Leu618=)
n.3237C=
10g.104162024G>TCA471342271CFAP43c.3351C>A (p.Leu1117=)
c.1433C>A
c.3354C>A (p.Leu1118=)
c.3468C>A (p.Leu1156=)
c.2697C>A (p.Leu899=)
c.1251C>A (p.Leu417=)
c.3465C>A (p.Leu1155=)
c.3120C>A (p.Leu1040=)
c.1854C>A (p.Leu618=)
n.3237C>A
10g.104162025A>CCA378091925CFAP43c.3350T>G (p.Leu1117Arg)
c.1432T>G
c.3353T>G (p.Leu1118Arg)
c.3467T>G (p.Leu1156Arg)
c.2696T>G (p.Leu899Arg)
c.1250T>G (p.Leu417Arg)
c.3464T>G (p.Leu1155Arg)
c.3119T>G (p.Leu1040Arg)
c.1853T>G (p.Leu618Arg)
n.3236T>G
10g.104162025A>GCA378091927CFAP43c.3350T>C (p.Leu1117Pro)
c.1432T>C
c.3353T>C (p.Leu1118Pro)
c.3467T>C (p.Leu1156Pro)
c.2696T>C (p.Leu899Pro)
c.1250T>C (p.Leu417Pro)
c.3464T>C (p.Leu1155Pro)
c.3119T>C (p.Leu1040Pro)
c.1853T>C (p.Leu618Pro)
n.3236T>C
10g.104162025A>TCA378091929CFAP43c.3350T>A (p.Leu1117His)
c.1432T>A
c.3353T>A (p.Leu1118His)
c.3467T>A (p.Leu1156His)
c.2696T>A (p.Leu899His)
c.1250T>A (p.Leu417His)
c.3464T>A (p.Leu1155His)
c.3119T>A (p.Leu1040His)
c.1853T>A (p.Leu618His)
n.3236T>A
 COSMIC
10g.104162026G>ACA5680326CFAP43c.3349C>T (p.Leu1117Phe)
c.1431C>T
c.3352C>T (p.Leu1118Phe)
c.3466C>T (p.Leu1156Phe)
c.2695C>T (p.Leu899Phe)
c.1249C>T (p.Leu417Phe)
c.3463C>T (p.Leu1155Phe)
c.3118C>T (p.Leu1040Phe)
c.1852C>T (p.Leu618Phe)
n.3235C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162026G>CCA378091931CFAP43c.3349C>G (p.Leu1117Val)
c.1431C>G
c.3352C>G (p.Leu1118Val)
c.3466C>G (p.Leu1156Val)
c.2695C>G (p.Leu899Val)
c.1249C>G (p.Leu417Val)
c.3463C>G (p.Leu1155Val)
c.3118C>G (p.Leu1040Val)
c.1852C>G (p.Leu618Val)
n.3235C>G
10g.104162026G=CA1933459920CFAP43c.3349C= (p.Leu1117=)
c.1431C=
c.3352C= (p.Leu1118=)
c.3466C= (p.Leu1156=)
c.2695C= (p.Leu899=)
c.1249C= (p.Leu417=)
c.3463C= (p.Leu1155=)
c.3118C= (p.Leu1040=)
c.1852C= (p.Leu618=)
n.3235C=
10g.104162026G>TCA378091933CFAP43c.3349C>A (p.Leu1117Ile)
c.1431C>A
c.3352C>A (p.Leu1118Ile)
c.3466C>A (p.Leu1156Ile)
c.2695C>A (p.Leu899Ile)
c.1249C>A (p.Leu417Ile)
c.3463C>A (p.Leu1155Ile)
c.3118C>A (p.Leu1040Ile)
c.1852C>A (p.Leu618Ile)
n.3235C>A
10g.104162027T>ACA378091935CFAP43c.3348A>T (p.Arg1116Ser)
c.1430A>T
c.3351A>T (p.Arg1117Ser)
c.3465A>T (p.Arg1155Ser)
c.2694A>T (p.Arg898Ser)
c.1248A>T (p.Arg416Ser)
c.3462A>T (p.Arg1154Ser)
c.3117A>T (p.Arg1039Ser)
c.1851A>T (p.Arg617Ser)
n.3234A>T
10g.104162027T>CCA471342279CFAP43c.3348A>G (p.Arg1116=)
c.1430A>G
c.3351A>G (p.Arg1117=)
c.3465A>G (p.Arg1155=)
c.2694A>G (p.Arg898=)
c.1248A>G (p.Arg416=)
c.3462A>G (p.Arg1154=)
c.3117A>G (p.Arg1039=)
c.1851A>G (p.Arg617=)
n.3234A>G
 dbSNP gnomAD v2 gnomAD v4
10g.104162027T>GCA378091937CFAP43c.3348A>C (p.Arg1116Ser)
c.1430A>C
c.3351A>C (p.Arg1117Ser)
c.3465A>C (p.Arg1155Ser)
c.2694A>C (p.Arg898Ser)
c.1248A>C (p.Arg416Ser)
c.3462A>C (p.Arg1154Ser)
c.3117A>C (p.Arg1039Ser)
c.1851A>C (p.Arg617Ser)
n.3234A>C
10g.104162027T=CA1933459922CFAP43c.3348A= (p.Arg1116=)
c.1430A=
c.3351A= (p.Arg1117=)
c.3465A= (p.Arg1155=)
c.2694A= (p.Arg898=)
c.1248A= (p.Arg416=)
c.3462A= (p.Arg1154=)
c.3117A= (p.Arg1039=)
c.1851A= (p.Arg617=)
n.3234A=
10g.104162028C>ACA378091940CFAP43c.3347G>T (p.Arg1116Ile)
c.1429G>T
c.3350G>T (p.Arg1117Ile)
c.3464G>T (p.Arg1155Ile)
c.2693G>T (p.Arg898Ile)
c.1247G>T (p.Arg416Ile)
c.3461G>T (p.Arg1154Ile)
c.3116G>T (p.Arg1039Ile)
c.1850G>T (p.Arg617Ile)
n.3233G>T
10g.104162028C>GCA378091941CFAP43c.3347G>C (p.Arg1116Thr)
c.1429G>C
c.3350G>C (p.Arg1117Thr)
c.3464G>C (p.Arg1155Thr)
c.2693G>C (p.Arg898Thr)
c.1247G>C (p.Arg416Thr)
c.3461G>C (p.Arg1154Thr)
c.3116G>C (p.Arg1039Thr)
c.1850G>C (p.Arg617Thr)
n.3233G>C
10g.104162028C>TCA378091943CFAP43c.3347G>A (p.Arg1116Lys)
c.1429G>A
c.3350G>A (p.Arg1117Lys)
c.3464G>A (p.Arg1155Lys)
c.2693G>A (p.Arg898Lys)
c.1247G>A (p.Arg416Lys)
c.3461G>A (p.Arg1154Lys)
c.3116G>A (p.Arg1039Lys)
c.1850G>A (p.Arg617Lys)
n.3233G>A
10g.104162029T>ACA378091946CFAP43c.3346A>T (p.Arg1116Ter)
c.1428A>T
c.3349A>T (p.Arg1117Ter)
c.3463A>T (p.Arg1155Ter)
c.2692A>T (p.Arg898Ter)
c.1246A>T (p.Arg416Ter)
c.3460A>T (p.Arg1154Ter)
c.3115A>T (p.Arg1039Ter)
c.1849A>T (p.Arg617Ter)
n.3232A>T
10g.104162029T>CCA378091948CFAP43c.3346A>G (p.Arg1116Gly)
c.1428A>G
c.3349A>G (p.Arg1117Gly)
c.3463A>G (p.Arg1155Gly)
c.2692A>G (p.Arg898Gly)
c.1246A>G (p.Arg416Gly)
c.3460A>G (p.Arg1154Gly)
c.3115A>G (p.Arg1039Gly)
c.1849A>G (p.Arg617Gly)
n.3232A>G
10g.104162029T>GCA471342284CFAP43c.3346A>C (p.Arg1116=)
c.1428A>C
c.3349A>C (p.Arg1117=)
c.3463A>C (p.Arg1155=)
c.2692A>C (p.Arg898=)
c.1246A>C (p.Arg416=)
c.3460A>C (p.Arg1154=)
c.3115A>C (p.Arg1039=)
c.1849A>C (p.Arg617=)
n.3232A>C
10g.104162029_104162033delCA645568184CFAP43c.3342_3346del (p.Ser1114ArgfsTer?)
c.1424_1428del
c.3345_3349del (p.Ser1115ArgfsTer?)
c.3459_3463del (p.Ser1153ArgfsTer?)
c.2688_2692del (p.Ser896ArgfsTer?)
c.1242_1246del (p.Ser414ArgfsTer?)
c.3456_3460del (p.Ser1152ArgfsTer?)
c.3111_3115del (p.Ser1037ArgfsTer?)
c.1845_1849del (p.Ser615ArgfsTer?)
n.3228_3232del
 COSMIC
10g.104162030T>ACA471342285CFAP43c.3345A>T (p.Thr1115=)
c.1427A>T
c.3348A>T (p.Thr1116=)
c.3462A>T (p.Thr1154=)
c.2691A>T (p.Thr897=)
c.1245A>T (p.Thr415=)
c.3459A>T (p.Thr1153=)
c.3114A>T (p.Thr1038=)
c.1848A>T (p.Thr616=)
n.3231A>T
10g.104162030T>CCA471342287CFAP43c.3345A>G (p.Thr1115=)
c.1427A>G
c.3348A>G (p.Thr1116=)
c.3462A>G (p.Thr1154=)
c.2691A>G (p.Thr897=)
c.1245A>G (p.Thr415=)
c.3459A>G (p.Thr1153=)
c.3114A>G (p.Thr1038=)
c.1848A>G (p.Thr616=)
n.3231A>G
 gnomAD v4
10g.104162030T>GCA471342290CFAP43c.3345A>C (p.Thr1115=)
c.1427A>C
c.3348A>C (p.Thr1116=)
c.3462A>C (p.Thr1154=)
c.2691A>C (p.Thr897=)
c.1245A>C (p.Thr415=)
c.3459A>C (p.Thr1153=)
c.3114A>C (p.Thr1038=)
c.1848A>C (p.Thr616=)
n.3231A>C
10g.104162031G>ACA378091951CFAP43c.3344C>T (p.Thr1115Ile)
c.1426C>T
c.3347C>T (p.Thr1116Ile)
c.3461C>T (p.Thr1154Ile)
c.2690C>T (p.Thr897Ile)
c.1244C>T (p.Thr415Ile)
c.3458C>T (p.Thr1153Ile)
c.3113C>T (p.Thr1038Ile)
c.1847C>T (p.Thr616Ile)
n.3230C>T
 dbSNP gnomAD v2 gnomAD v4
10g.104162031G>CCA378091952CFAP43c.3344C>G (p.Thr1115Arg)
c.1426C>G
c.3347C>G (p.Thr1116Arg)
c.3461C>G (p.Thr1154Arg)
c.2690C>G (p.Thr897Arg)
c.1244C>G (p.Thr415Arg)
c.3458C>G (p.Thr1153Arg)
c.3113C>G (p.Thr1038Arg)
c.1847C>G (p.Thr616Arg)
n.3230C>G
10g.104162031G=CA1933459926CFAP43c.3344C= (p.Thr1115=)
c.1426C=
c.3347C= (p.Thr1116=)
c.3461C= (p.Thr1154=)
c.2690C= (p.Thr897=)
c.1244C= (p.Thr415=)
c.3458C= (p.Thr1153=)
c.3113C= (p.Thr1038=)
c.1847C= (p.Thr616=)
n.3230C=
10g.104162031G>TCA212453412CFAP43c.3344C>A (p.Thr1115Lys)
c.1426C>A
c.3347C>A (p.Thr1116Lys)
c.3461C>A (p.Thr1154Lys)
c.2690C>A (p.Thr897Lys)
c.1244C>A (p.Thr415Lys)
c.3458C>A (p.Thr1153Lys)
c.3113C>A (p.Thr1038Lys)
c.1847C>A (p.Thr616Lys)
n.3230C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.104162032delCA2522648795CFAP43c.3343del (p.Thr1115GlnfsTer6)
c.1425del
c.3346del (p.Thr1116GlnfsTer6)
c.3460del (p.Thr1154GlnfsTer6)
c.2689del (p.Thr897GlnfsTer6)
c.1243del (p.Thr415GlnfsTer6)
c.3457del (p.Thr1153GlnfsTer6)
c.3112del (p.Thr1038GlnfsTer6)
c.1846del (p.Thr616GlnfsTer6)
n.3229del
10g.104162032T>ACA378091956CFAP43c.3343A>T (p.Thr1115Ser)
c.1425A>T
c.3346A>T (p.Thr1116Ser)
c.3460A>T (p.Thr1154Ser)
c.2689A>T (p.Thr897Ser)
c.1243A>T (p.Thr415Ser)
c.3457A>T (p.Thr1153Ser)
c.3112A>T (p.Thr1038Ser)
c.1846A>T (p.Thr616Ser)
n.3229A>T
10g.104162032T>CCA5680327CFAP43c.3343A>G (p.Thr1115Ala)
c.1425A>G
c.3346A>G (p.Thr1116Ala)
c.3460A>G (p.Thr1154Ala)
c.2689A>G (p.Thr897Ala)
c.1243A>G (p.Thr415Ala)
c.3457A>G (p.Thr1153Ala)
c.3112A>G (p.Thr1038Ala)
c.1846A>G (p.Thr616Ala)
n.3229A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162032T>GCA378091959CFAP43c.3343A>C (p.Thr1115Pro)
c.1425A>C
c.3346A>C (p.Thr1116Pro)
c.3460A>C (p.Thr1154Pro)
c.2689A>C (p.Thr897Pro)
c.1243A>C (p.Thr415Pro)
c.3457A>C (p.Thr1153Pro)
c.3112A>C (p.Thr1038Pro)
c.1846A>C (p.Thr616Pro)
n.3229A>C
10g.104162032T=CA1933459928CFAP43c.3343A= (p.Thr1115=)
c.1425A=
c.3346A= (p.Thr1116=)
c.3460A= (p.Thr1154=)
c.2689A= (p.Thr897=)
c.1243A= (p.Thr415=)
c.3457A= (p.Thr1153=)
c.3112A= (p.Thr1038=)
c.1846A= (p.Thr616=)
n.3229A=
10g.104162033A>CCA378091966CFAP43c.3342T>G (p.Ser1114Arg)
c.1424T>G
c.3345T>G (p.Ser1115Arg)
c.3459T>G (p.Ser1153Arg)
c.2688T>G (p.Ser896Arg)
c.1242T>G (p.Ser414Arg)
c.3456T>G (p.Ser1152Arg)
c.3111T>G (p.Ser1037Arg)
c.1845T>G (p.Ser615Arg)
n.3228T>G
10g.104162033A>GCA471342294CFAP43c.3342T>C (p.Ser1114=)
c.1424T>C
c.3345T>C (p.Ser1115=)
c.3459T>C (p.Ser1153=)
c.2688T>C (p.Ser896=)
c.1242T>C (p.Ser414=)
c.3456T>C (p.Ser1152=)
c.3111T>C (p.Ser1037=)
c.1845T>C (p.Ser615=)
n.3228T>C
10g.104162033A>TCA378091963CFAP43c.3342T>A (p.Ser1114Arg)
c.1424T>A
c.3345T>A (p.Ser1115Arg)
c.3459T>A (p.Ser1153Arg)
c.2688T>A (p.Ser896Arg)
c.1242T>A (p.Ser414Arg)
c.3456T>A (p.Ser1152Arg)
c.3111T>A (p.Ser1037Arg)
c.1845T>A (p.Ser615Arg)
n.3228T>A
10g.104162034C>ACA378091970CFAP43c.3341G>T (p.Ser1114Ile)
c.1423G>T
c.3344G>T (p.Ser1115Ile)
c.3458G>T (p.Ser1153Ile)
c.2687G>T (p.Ser896Ile)
c.1241G>T (p.Ser414Ile)
c.3455G>T (p.Ser1152Ile)
c.3110G>T (p.Ser1037Ile)
c.1844G>T (p.Ser615Ile)
n.3227G>T
10g.104162034C>GCA378091972CFAP43c.3341G>C (p.Ser1114Thr)
c.1423G>C
c.3344G>C (p.Ser1115Thr)
c.3458G>C (p.Ser1153Thr)
c.2687G>C (p.Ser896Thr)
c.1241G>C (p.Ser414Thr)
c.3455G>C (p.Ser1152Thr)
c.3110G>C (p.Ser1037Thr)
c.1844G>C (p.Ser615Thr)
n.3227G>C
10g.104162034C>TCA378091974CFAP43c.3341G>A (p.Ser1114Asn)
c.1423G>A
c.3344G>A (p.Ser1115Asn)
c.3458G>A (p.Ser1153Asn)
c.2687G>A (p.Ser896Asn)
c.1241G>A (p.Ser414Asn)
c.3455G>A (p.Ser1152Asn)
c.3110G>A (p.Ser1037Asn)
c.1844G>A (p.Ser615Asn)
n.3227G>A
 gnomAD v4
10g.104162035T>ACA378091978CFAP43c.3340A>T (p.Ser1114Cys)
c.1422A>T
c.3343A>T (p.Ser1115Cys)
c.3457A>T (p.Ser1153Cys)
c.2686A>T (p.Ser896Cys)
c.1240A>T (p.Ser414Cys)
c.3454A>T (p.Ser1152Cys)
c.3109A>T (p.Ser1037Cys)
c.1843A>T (p.Ser615Cys)
n.3226A>T
10g.104162035T>CCA378091981CFAP43c.3340A>G (p.Ser1114Gly)
c.1422A>G
c.3343A>G (p.Ser1115Gly)
c.3457A>G (p.Ser1153Gly)
c.2686A>G (p.Ser896Gly)
c.1240A>G (p.Ser414Gly)
c.3454A>G (p.Ser1152Gly)
c.3109A>G (p.Ser1037Gly)
c.1843A>G (p.Ser615Gly)
n.3226A>G
10g.104162035T>GCA378091982CFAP43c.3340A>C (p.Ser1114Arg)
c.1422A>C
c.3343A>C (p.Ser1115Arg)
c.3457A>C (p.Ser1153Arg)
c.2686A>C (p.Ser896Arg)
c.1240A>C (p.Ser414Arg)
c.3454A>C (p.Ser1152Arg)
c.3109A>C (p.Ser1037Arg)
c.1843A>C (p.Ser615Arg)
n.3226A>C
10g.104162036G>ACA471342299CFAP43c.3339C>T (p.Ala1113=)
c.1421C>T
c.3342C>T (p.Ala1114=)
c.3456C>T (p.Ala1152=)
c.2685C>T (p.Ala895=)
c.1239C>T (p.Ala413=)
c.3453C>T (p.Ala1151=)
c.3108C>T (p.Ala1036=)
c.1842C>T (p.Ala614=)
n.3225C>T
10g.104162036G>CCA471342297CFAP43c.3339C>G (p.Ala1113=)
c.1421C>G
c.3342C>G (p.Ala1114=)
c.3456C>G (p.Ala1152=)
c.2685C>G (p.Ala895=)
c.1239C>G (p.Ala413=)
c.3453C>G (p.Ala1151=)
c.3108C>G (p.Ala1036=)
c.1842C>G (p.Ala614=)
n.3225C>G
10g.104162036G>TCA471342298CFAP43c.3339C>A (p.Ala1113=)
c.1421C>A
c.3342C>A (p.Ala1114=)
c.3456C>A (p.Ala1152=)
c.2685C>A (p.Ala895=)
c.1239C>A (p.Ala413=)
c.3453C>A (p.Ala1151=)
c.3108C>A (p.Ala1036=)
c.1842C>A (p.Ala614=)
n.3225C>A
10g.104162037G>ACA212453425CFAP43c.3338C>T (p.Ala1113Val)
c.1420C>T
c.3341C>T (p.Ala1114Val)
c.3455C>T (p.Ala1152Val)
c.2684C>T (p.Ala895Val)
c.1238C>T (p.Ala413Val)
c.3452C>T (p.Ala1151Val)
c.3107C>T (p.Ala1036Val)
c.1841C>T (p.Ala614Val)
n.3224C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104162037G>CCA5680328CFAP43c.3338C>G (p.Ala1113Gly)
c.1420C>G
c.3341C>G (p.Ala1114Gly)
c.3455C>G (p.Ala1152Gly)
c.2684C>G (p.Ala895Gly)
c.1238C>G (p.Ala413Gly)
c.3452C>G (p.Ala1151Gly)
c.3107C>G (p.Ala1036Gly)
c.1841C>G (p.Ala614Gly)
n.3224C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104162037G=CA1933459932CFAP43c.3338C= (p.Ala1113=)
c.1420C=
c.3341C= (p.Ala1114=)
c.3455C= (p.Ala1152=)
c.2684C= (p.Ala895=)
c.1238C= (p.Ala413=)
c.3452C= (p.Ala1151=)
c.3107C= (p.Ala1036=)
c.1841C= (p.Ala614=)
n.3224C=
10g.104162037G>TCA378091988CFAP43c.3338C>A (p.Ala1113Asp)
c.1420C>A
c.3341C>A (p.Ala1114Asp)
c.3455C>A (p.Ala1152Asp)
c.2684C>A (p.Ala895Asp)
c.1238C>A (p.Ala413Asp)
c.3452C>A (p.Ala1151Asp)
c.3107C>A (p.Ala1036Asp)
c.1841C>A (p.Ala614Asp)
n.3224C>A
 dbSNP gnomAD v2 gnomAD v4
10g.104162038C>ACA378091993CFAP43c.3337G>T (p.Ala1113Ser)
c.1419G>T
c.3340G>T (p.Ala1114Ser)
c.3454G>T (p.Ala1152Ser)
c.2683G>T (p.Ala895Ser)
c.1237G>T (p.Ala413Ser)
c.3451G>T (p.Ala1151Ser)
c.3106G>T (p.Ala1036Ser)
c.1840G>T (p.Ala614Ser)
n.3223G>T
10g.104162038C=CA1933459936CFAP43c.3337G= (p.Ala1113=)
c.1419G=
c.3340G= (p.Ala1114=)
c.3454G= (p.Ala1152=)
c.2683G= (p.Ala895=)
c.1237G= (p.Ala413=)
c.3451G= (p.Ala1151=)
c.3106G= (p.Ala1036=)
c.1840G= (p.Ala614=)
n.3223G=
10g.104162038C>GCA378091994CFAP43c.3337G>C (p.Ala1113Pro)
c.1419G>C
c.3340G>C (p.Ala1114Pro)
c.3454G>C (p.Ala1152Pro)
c.2683G>C (p.Ala895Pro)
c.1237G>C (p.Ala413Pro)
c.3451G>C (p.Ala1151Pro)
c.3106G>C (p.Ala1036Pro)
c.1840G>C (p.Ala614Pro)
n.3223G>C
10g.104162038C>TCA212453428CFAP43c.3337G>A (p.Ala1113Thr)
c.1419G>A
c.3340G>A (p.Ala1114Thr)
c.3454G>A (p.Ala1152Thr)
c.2683G>A (p.Ala895Thr)
c.1237G>A (p.Ala413Thr)
c.3451G>A (p.Ala1151Thr)
c.3106G>A (p.Ala1036Thr)
c.1840G>A (p.Ala614Thr)
n.3223G>A
 dbSNP
10g.104162039A>CCA378092001CFAP43c.3336T>G (p.Asp1112Glu)
c.1418T>G
c.3339T>G (p.Asp1113Glu)
c.3453T>G (p.Asp1151Glu)
c.2682T>G (p.Asp894Glu)
c.1236T>G (p.Asp412Glu)
c.3450T>G (p.Asp1150Glu)
c.3105T>G (p.Asp1035Glu)
c.1839T>G (p.Asp613Glu)
n.3222T>G
10g.104162039A>GCA471342303CFAP43c.3336T>C (p.Asp1112=)
c.1418T>C
c.3339T>C (p.Asp1113=)
c.3453T>C (p.Asp1151=)
c.2682T>C (p.Asp894=)
c.1236T>C (p.Asp412=)
c.3450T>C (p.Asp1150=)
c.3105T>C (p.Asp1035=)
c.1839T>C (p.Asp613=)
n.3222T>C
10g.104162039A>TCA378092003CFAP43c.3336T>A (p.Asp1112Glu)
c.1418T>A
c.3339T>A (p.Asp1113Glu)
c.3453T>A (p.Asp1151Glu)
c.2682T>A (p.Asp894Glu)
c.1236T>A (p.Asp412Glu)
c.3450T>A (p.Asp1150Glu)
c.3105T>A (p.Asp1035Glu)
c.1839T>A (p.Asp613Glu)
n.3222T>A
10g.104162040T>ACA5680329CFAP43c.3335A>T (p.Asp1112Val)
c.1417A>T
c.3338A>T (p.Asp1113Val)
c.3452A>T (p.Asp1151Val)
c.2681A>T (p.Asp894Val)
c.1235A>T (p.Asp412Val)
c.3449A>T (p.Asp1150Val)
c.3104A>T (p.Asp1035Val)
c.1838A>T (p.Asp613Val)
n.3221A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162040T>CCA378092012CFAP43c.3335A>G (p.Asp1112Gly)
c.1417A>G
c.3338A>G (p.Asp1113Gly)
c.3452A>G (p.Asp1151Gly)
c.2681A>G (p.Asp894Gly)
c.1235A>G (p.Asp412Gly)
c.3449A>G (p.Asp1150Gly)
c.3104A>G (p.Asp1035Gly)
c.1838A>G (p.Asp613Gly)
n.3221A>G
10g.104162040T>GCA378092009CFAP43c.3335A>C (p.Asp1112Ala)
c.1417A>C
c.3338A>C (p.Asp1113Ala)
c.3452A>C (p.Asp1151Ala)
c.2681A>C (p.Asp894Ala)
c.1235A>C (p.Asp412Ala)
c.3449A>C (p.Asp1150Ala)
c.3104A>C (p.Asp1035Ala)
c.1838A>C (p.Asp613Ala)
n.3221A>C
10g.104162040T=CA1933459938CFAP43c.3335A= (p.Asp1112=)
c.1417A=
c.3338A= (p.Asp1113=)
c.3452A= (p.Asp1151=)
c.2681A= (p.Asp894=)
c.1235A= (p.Asp412=)
c.3449A= (p.Asp1150=)
c.3104A= (p.Asp1035=)
c.1838A= (p.Asp613=)
n.3221A=
10g.104162041C>ACA378092014CFAP43c.3334G>T (p.Asp1112Tyr)
c.1416G>T
c.3337G>T (p.Asp1113Tyr)
c.3451G>T (p.Asp1151Tyr)
c.2680G>T (p.Asp894Tyr)
c.1234G>T (p.Asp412Tyr)
c.3448G>T (p.Asp1150Tyr)
c.3103G>T (p.Asp1035Tyr)
c.1837G>T (p.Asp613Tyr)
n.3220G>T
10g.104162041C>GCA378092016CFAP43c.3334G>C (p.Asp1112His)
c.1416G>C
c.3337G>C (p.Asp1113His)
c.3451G>C (p.Asp1151His)
c.2680G>C (p.Asp894His)
c.1234G>C (p.Asp412His)
c.3448G>C (p.Asp1150His)
c.3103G>C (p.Asp1035His)
c.1837G>C (p.Asp613His)
n.3220G>C
10g.104162041C>TCA378092019CFAP43c.3334G>A (p.Asp1112Asn)
c.1416G>A
c.3337G>A (p.Asp1113Asn)
c.3451G>A (p.Asp1151Asn)
c.2680G>A (p.Asp894Asn)
c.1234G>A (p.Asp412Asn)
c.3448G>A (p.Asp1150Asn)
c.3103G>A (p.Asp1035Asn)
c.1837G>A (p.Asp613Asn)
n.3220G>A
10g.104162042C>ACA378092022CFAP43c.3334-1G>T (n.3334-1G>T)
c.1416-1G>T
c.3337-1G>T (n.3337-1G>T)
c.3451-1G>T (n.3451-1G>T)
c.2680-1G>T (n.2680-1G>T)
c.1234-1G>T (n.1234-1G>T)
c.3448-1G>T (n.3448-1G>T)
c.3103-1G>T (n.3103-1G>T)
c.1837-1G>T (n.1837-1G>T)
n.3220-1G>T
10g.104162042C=CA1933459943CFAP43c.3334-1G= (n.3334-1G=)
c.1416-1G=
c.3337-1G= (n.3337-1G=)
c.3451-1G= (n.3451-1G=)
c.2680-1G= (n.2680-1G=)
c.1234-1G= (n.1234-1G=)
c.3448-1G= (n.3448-1G=)
c.3103-1G= (n.3103-1G=)
c.1837-1G= (n.1837-1G=)
n.3220-1G=
10g.104162042C>GCA378092025CFAP43c.3334-1G>C (n.3334-1G>C)
c.1416-1G>C
c.3337-1G>C (n.3337-1G>C)
c.3451-1G>C (n.3451-1G>C)
c.2680-1G>C (n.2680-1G>C)
c.1234-1G>C (n.1234-1G>C)
c.3448-1G>C (n.3448-1G>C)
c.3103-1G>C (n.3103-1G>C)
c.1837-1G>C (n.1837-1G>C)
n.3220-1G>C
 dbSNP gnomAD v2 gnomAD v4
10g.104162042C>TCA378092028CFAP43c.3334-1G>A (n.3334-1G>A)
c.1416-1G>A
c.3337-1G>A (n.3337-1G>A)
c.3451-1G>A (n.3451-1G>A)
c.2680-1G>A (n.2680-1G>A)
c.1234-1G>A (n.1234-1G>A)
c.3448-1G>A (n.3448-1G>A)
c.3103-1G>A (n.3103-1G>A)
c.1837-1G>A (n.1837-1G>A)
n.3220-1G>A
10g.104162043T>ACA378092031CFAP43c.3334-2A>T (n.3334-2A>T)
c.1416-2A>T
c.3337-2A>T (n.3337-2A>T)
c.3451-2A>T (n.3451-2A>T)
c.2680-2A>T (n.2680-2A>T)
c.1234-2A>T (n.1234-2A>T)
c.3448-2A>T (n.3448-2A>T)
c.3103-2A>T (n.3103-2A>T)
c.1837-2A>T (n.1837-2A>T)
n.3220-2A>T
10g.104162043T>CCA378092034CFAP43c.3334-2A>G (n.3334-2A>G)
c.1416-2A>G
c.3337-2A>G (n.3337-2A>G)
c.3451-2A>G (n.3451-2A>G)
c.2680-2A>G (n.2680-2A>G)
c.1234-2A>G (n.1234-2A>G)
c.3448-2A>G (n.3448-2A>G)
c.3103-2A>G (n.3103-2A>G)
c.1837-2A>G (n.1837-2A>G)
n.3220-2A>G
10g.104162043T>GCA378092037CFAP43c.3334-2A>C (n.3334-2A>C)
c.1416-2A>C
c.3337-2A>C (n.3337-2A>C)
c.3451-2A>C (n.3451-2A>C)
c.2680-2A>C (n.2680-2A>C)
c.1234-2A>C (n.1234-2A>C)
c.3448-2A>C (n.3448-2A>C)
c.3103-2A>C (n.3103-2A>C)
c.1837-2A>C (n.1837-2A>C)
n.3220-2A>C
10g.104162045G>TCA2610809247CFAP43c.3334-4C>A (n.3334-4C>A)
c.1416-4C>A
c.3337-4C>A (n.3337-4C>A)
c.3451-4C>A (n.3451-4C>A)
c.2680-4C>A (n.2680-4C>A)
c.1234-4C>A (n.1234-4C>A)
c.3448-4C>A (n.3448-4C>A)
c.3103-4C>A (n.3103-4C>A)
c.1837-4C>A (n.1837-4C>A)
n.3220-4C>A
 gnomAD v4
10g.104162046G>ACA5680330CFAP43c.3334-5C>T (n.3334-5C>T)
c.1416-5C>T
c.3337-5C>T (n.3337-5C>T)
c.3451-5C>T (n.3451-5C>T)
c.2680-5C>T (n.2680-5C>T)
c.1234-5C>T (n.1234-5C>T)
c.3448-5C>T (n.3448-5C>T)
c.3103-5C>T (n.3103-5C>T)
c.1837-5C>T (n.1837-5C>T)
n.3220-5C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162046G>CCA2520173092CFAP43c.3334-5C>G (n.3334-5C>G)
c.1416-5C>G
c.3337-5C>G (n.3337-5C>G)
c.3451-5C>G (n.3451-5C>G)
c.2680-5C>G (n.2680-5C>G)
c.1234-5C>G (n.1234-5C>G)
c.3448-5C>G (n.3448-5C>G)
c.3103-5C>G (n.3103-5C>G)
c.1837-5C>G (n.1837-5C>G)
n.3220-5C>G
10g.104162046G=CA1933459946CFAP43c.3334-5C= (n.3334-5C=)
c.1416-5C=
c.3337-5C= (n.3337-5C=)
c.3451-5C= (n.3451-5C=)
c.2680-5C= (n.2680-5C=)
c.1234-5C= (n.1234-5C=)
c.3448-5C= (n.3448-5C=)
c.3103-5C= (n.3103-5C=)
c.1837-5C= (n.1837-5C=)
n.3220-5C=
10g.104162050G>ACA2610809252CFAP43c.3334-9C>T (n.3334-9C>T)
c.1416-9C>T
c.3337-9C>T (n.3337-9C>T)
c.3451-9C>T (n.3451-9C>T)
c.2680-9C>T (n.2680-9C>T)
c.1234-9C>T (n.1234-9C>T)
c.3448-9C>T (n.3448-9C>T)
c.3103-9C>T (n.3103-9C>T)
c.1837-9C>T (n.1837-9C>T)
n.3220-9C>T
 gnomAD v4
10g.104162052G>ACA595676288CFAP43c.3334-11C>T (n.3334-11C>T)
c.1416-11C>T
c.3337-11C>T (n.3337-11C>T)
c.3451-11C>T (n.3451-11C>T)
c.2680-11C>T (n.2680-11C>T)
c.1234-11C>T (n.1234-11C>T)
c.3448-11C>T (n.3448-11C>T)
c.3103-11C>T (n.3103-11C>T)
c.1837-11C>T (n.1837-11C>T)
n.3220-11C>T
 dbSNP gnomAD v2 gnomAD v4
10g.104162052G=CA1933459950CFAP43c.3334-11C= (n.3334-11C=)
c.1416-11C=
c.3337-11C= (n.3337-11C=)
c.3451-11C= (n.3451-11C=)
c.2680-11C= (n.2680-11C=)
c.1234-11C= (n.1234-11C=)
c.3448-11C= (n.3448-11C=)
c.3103-11C= (n.3103-11C=)
c.1837-11C= (n.1837-11C=)
n.3220-11C=
10g.104162052G>TCA2610809255CFAP43c.3334-11C>A (n.3334-11C>A)
c.1416-11C>A
c.3337-11C>A (n.3337-11C>A)
c.3451-11C>A (n.3451-11C>A)
c.2680-11C>A (n.2680-11C>A)
c.1234-11C>A (n.1234-11C>A)
c.3448-11C>A (n.3448-11C>A)
c.3103-11C>A (n.3103-11C>A)
c.1837-11C>A (n.1837-11C>A)
n.3220-11C>A
 gnomAD v4
10g.104162053C>ACA2610809282CFAP43c.3334-12G>T (n.3334-12G>T)
c.1416-12G>T
c.3337-12G>T (n.3337-12G>T)
c.3451-12G>T (n.3451-12G>T)
c.2680-12G>T (n.2680-12G>T)
c.1234-12G>T (n.1234-12G>T)
c.3448-12G>T (n.3448-12G>T)
c.3103-12G>T (n.3103-12G>T)
c.1837-12G>T (n.1837-12G>T)
n.3220-12G>T
 gnomAD v4
10g.104162053C=CA1933459953CFAP43c.3334-12G= (n.3334-12G=)
c.1416-12G=
c.3337-12G= (n.3337-12G=)
c.3451-12G= (n.3451-12G=)
c.2680-12G= (n.2680-12G=)
c.1234-12G= (n.1234-12G=)
c.3448-12G= (n.3448-12G=)
c.3103-12G= (n.3103-12G=)
c.1837-12G= (n.1837-12G=)
n.3220-12G=
10g.104162053C>TCA595676290CFAP43c.3334-12G>A (n.3334-12G>A)
c.1416-12G>A
c.3337-12G>A (n.3337-12G>A)
c.3451-12G>A (n.3451-12G>A)
c.2680-12G>A (n.2680-12G>A)
c.1234-12G>A (n.1234-12G>A)
c.3448-12G>A (n.3448-12G>A)
c.3103-12G>A (n.3103-12G>A)
c.1837-12G>A (n.1837-12G>A)
n.3220-12G>A
 dbSNP gnomAD v2 gnomAD v4
10g.104162054C>ACA2610809288CFAP43c.3334-13G>T (n.3334-13G>T)
c.1416-13G>T
c.3337-13G>T (n.3337-13G>T)
c.3451-13G>T (n.3451-13G>T)
c.2680-13G>T (n.2680-13G>T)
c.1234-13G>T (n.1234-13G>T)
c.3448-13G>T (n.3448-13G>T)
c.3103-13G>T (n.3103-13G>T)
c.1837-13G>T (n.1837-13G>T)
n.3220-13G>T
 gnomAD v4
10g.104162054C=CA1933459954CFAP43c.3334-13G= (n.3334-13G=)
c.1416-13G=
c.3337-13G= (n.3337-13G=)
c.3451-13G= (n.3451-13G=)
c.2680-13G= (n.2680-13G=)
c.1234-13G= (n.1234-13G=)
c.3448-13G= (n.3448-13G=)
c.3103-13G= (n.3103-13G=)
c.1837-13G= (n.1837-13G=)
n.3220-13G=
10g.104162054C>GCA5680331CFAP43c.3334-13G>C (n.3334-13G>C)
c.1416-13G>C
c.3337-13G>C (n.3337-13G>C)
c.3451-13G>C (n.3451-13G>C)
c.2680-13G>C (n.2680-13G>C)
c.1234-13G>C (n.1234-13G>C)
c.3448-13G>C (n.3448-13G>C)
c.3103-13G>C (n.3103-13G>C)
c.1837-13G>C (n.1837-13G>C)
n.3220-13G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162055A=CA1933459957CFAP43c.3334-14T= (n.3334-14T=)
c.1416-14T=
c.3337-14T= (n.3337-14T=)
c.3451-14T= (n.3451-14T=)
c.2680-14T= (n.2680-14T=)
c.1234-14T= (n.1234-14T=)
c.3448-14T= (n.3448-14T=)
c.3103-14T= (n.3103-14T=)
c.1837-14T= (n.1837-14T=)
n.3220-14T=
10g.104162055A>CCA2610809290CFAP43c.3334-14T>G (n.3334-14T>G)
c.1416-14T>G
c.3337-14T>G (n.3337-14T>G)
c.3451-14T>G (n.3451-14T>G)
c.2680-14T>G (n.2680-14T>G)
c.1234-14T>G (n.1234-14T>G)
c.3448-14T>G (n.3448-14T>G)
c.3103-14T>G (n.3103-14T>G)
c.1837-14T>G (n.1837-14T>G)
n.3220-14T>G
 gnomAD v4
10g.104162055A>GCA595676291CFAP43c.3334-14T>C (n.3334-14T>C)
c.1416-14T>C
c.3337-14T>C (n.3337-14T>C)
c.3451-14T>C (n.3451-14T>C)
c.2680-14T>C (n.2680-14T>C)
c.1234-14T>C (n.1234-14T>C)
c.3448-14T>C (n.3448-14T>C)
c.3103-14T>C (n.3103-14T>C)
c.1837-14T>C (n.1837-14T>C)
n.3220-14T>C
 dbSNP gnomAD v2 gnomAD v4
10g.104162056G>ACA2574662320CFAP43c.3334-15C>T (n.3334-15C>T)
c.1416-15C>T
c.3337-15C>T (n.3337-15C>T)
c.3451-15C>T (n.3451-15C>T)
c.2680-15C>T (n.2680-15C>T)
c.1234-15C>T (n.1234-15C>T)
c.3448-15C>T (n.3448-15C>T)
c.3103-15C>T (n.3103-15C>T)
c.1837-15C>T (n.1837-15C>T)
n.3220-15C>T
 gnomAD v4
10g.104162056G>CCA5680332CFAP43c.3334-15C>G (n.3334-15C>G)
c.1416-15C>G
c.3337-15C>G (n.3337-15C>G)
c.3451-15C>G (n.3451-15C>G)
c.2680-15C>G (n.2680-15C>G)
c.1234-15C>G (n.1234-15C>G)
c.3448-15C>G (n.3448-15C>G)
c.3103-15C>G (n.3103-15C>G)
c.1837-15C>G (n.1837-15C>G)
n.3220-15C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104162056G=CA1933459960CFAP43c.3334-15C= (n.3334-15C=)
c.1416-15C=
c.3337-15C= (n.3337-15C=)
c.3451-15C= (n.3451-15C=)
c.2680-15C= (n.2680-15C=)
c.1234-15C= (n.1234-15C=)
c.3448-15C= (n.3448-15C=)
c.3103-15C= (n.3103-15C=)
c.1837-15C= (n.1837-15C=)
n.3220-15C=
10g.104162057A=CA1933459962CFAP43c.3334-16T= (n.3334-16T=)
c.1416-16T=
c.3337-16T= (n.3337-16T=)
c.3451-16T= (n.3451-16T=)
c.2680-16T= (n.2680-16T=)
c.1234-16T= (n.1234-16T=)
c.3448-16T= (n.3448-16T=)
c.3103-16T= (n.3103-16T=)
c.1837-16T= (n.1837-16T=)
n.3220-16T=
10g.104162057A>CCA212453438CFAP43c.3334-16T>G (n.3334-16T>G)
c.1416-16T>G
c.3337-16T>G (n.3337-16T>G)
c.3451-16T>G (n.3451-16T>G)
c.2680-16T>G (n.2680-16T>G)
c.1234-16T>G (n.1234-16T>G)
c.3448-16T>G (n.3448-16T>G)
c.3103-16T>G (n.3103-16T>G)
c.1837-16T>G (n.1837-16T>G)
n.3220-16T>G
 dbSNP gnomAD v3 gnomAD v4
10g.104162057A>TCA2610809293CFAP43c.3334-16T>A (n.3334-16T>A)
c.1416-16T>A
c.3337-16T>A (n.3337-16T>A)
c.3451-16T>A (n.3451-16T>A)
c.2680-16T>A (n.2680-16T>A)
c.1234-16T>A (n.1234-16T>A)
c.3448-16T>A (n.3448-16T>A)
c.3103-16T>A (n.3103-16T>A)
c.1837-16T>A (n.1837-16T>A)
n.3220-16T>A
 gnomAD v4
10g.104162059T>GCA2610809294CFAP43c.3334-18A>C (n.3334-18A>C)
c.1416-18A>C
c.3337-18A>C (n.3337-18A>C)
c.3451-18A>C (n.3451-18A>C)
c.2680-18A>C (n.2680-18A>C)
c.1234-18A>C (n.1234-18A>C)
c.3448-18A>C (n.3448-18A>C)
c.3103-18A>C (n.3103-18A>C)
c.1837-18A>C (n.1837-18A>C)
n.3220-18A>C
 gnomAD v4
10g.104162060C>TCA2610809295CFAP43c.3334-19G>A (n.3334-19G>A)
c.1416-19G>A
c.3337-19G>A (n.3337-19G>A)
c.3451-19G>A (n.3451-19G>A)
c.2680-19G>A (n.2680-19G>A)
c.1234-19G>A (n.1234-19G>A)
c.3448-19G>A (n.3448-19G>A)
c.3103-19G>A (n.3103-19G>A)
c.1837-19G>A (n.1837-19G>A)
n.3220-19G>A
 dbSNP gnomAD v4
10g.104162061A=CA1933459967CFAP43c.3334-20T= (n.3334-20T=)
c.1416-20T=
c.3337-20T= (n.3337-20T=)
c.3451-20T= (n.3451-20T=)
c.2680-20T= (n.2680-20T=)
c.1234-20T= (n.1234-20T=)
c.3448-20T= (n.3448-20T=)
c.3103-20T= (n.3103-20T=)
c.1837-20T= (n.1837-20T=)
n.3220-20T=
10g.104162061A>GCA212453439CFAP43c.3334-20T>C (n.3334-20T>C)
c.1416-20T>C
c.3337-20T>C (n.3337-20T>C)
c.3451-20T>C (n.3451-20T>C)
c.2680-20T>C (n.2680-20T>C)
c.1234-20T>C (n.1234-20T>C)
c.3448-20T>C (n.3448-20T>C)
c.3103-20T>C (n.3103-20T>C)
c.1837-20T>C (n.1837-20T>C)
n.3220-20T>C
 dbSNP gnomAD v3 gnomAD v4
10g.104162061A>TCA595676292CFAP43c.3334-20T>A (n.3334-20T>A)
c.1416-20T>A
c.3337-20T>A (n.3337-20T>A)
c.3451-20T>A (n.3451-20T>A)
c.2680-20T>A (n.2680-20T>A)
c.1234-20T>A (n.1234-20T>A)
c.3448-20T>A (n.3448-20T>A)
c.3103-20T>A (n.3103-20T>A)
c.1837-20T>A (n.1837-20T>A)
n.3220-20T>A
 dbSNP gnomAD v2 gnomAD v4
10g.104162062G>CCA2610809299CFAP43c.3334-21C>G (n.3334-21C>G)
c.1416-21C>G
c.3337-21C>G (n.3337-21C>G)
c.3451-21C>G (n.3451-21C>G)
c.2680-21C>G (n.2680-21C>G)
c.1234-21C>G (n.1234-21C>G)
c.3448-21C>G (n.3448-21C>G)
c.3103-21C>G (n.3103-21C>G)
c.1837-21C>G (n.1837-21C>G)
n.3220-21C>G
 gnomAD v4
10g.104162063A=CA1933459970CFAP43c.3334-22T= (n.3334-22T=)
c.1416-22T=
c.3337-22T= (n.3337-22T=)
c.3451-22T= (n.3451-22T=)
c.2680-22T= (n.2680-22T=)
c.1234-22T= (n.1234-22T=)
c.3448-22T= (n.3448-22T=)
c.3103-22T= (n.3103-22T=)
c.1837-22T= (n.1837-22T=)
n.3220-22T=
10g.104162063A>GCA5680333CFAP43c.3334-22T>C (n.3334-22T>C)
c.1416-22T>C
c.3337-22T>C (n.3337-22T>C)
c.3451-22T>C (n.3451-22T>C)
c.2680-22T>C (n.2680-22T>C)
c.1234-22T>C (n.1234-22T>C)
c.3448-22T>C (n.3448-22T>C)
c.3103-22T>C (n.3103-22T>C)
c.1837-22T>C (n.1837-22T>C)
n.3220-22T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104162064G>ACA2789323713CFAP43c.3334-23C>T (n.3334-23C>T)
c.1416-23C>T
c.3337-23C>T (n.3337-23C>T)
c.3451-23C>T (n.3451-23C>T)
c.2680-23C>T (n.2680-23C>T)
c.1234-23C>T (n.1234-23C>T)
c.3448-23C>T (n.3448-23C>T)
c.3103-23C>T (n.3103-23C>T)
c.1837-23C>T (n.1837-23C>T)
n.3220-23C>T
10g.104162066G>ACA2610809304CFAP43c.3334-25C>T (n.3334-25C>T)
c.1416-25C>T
c.3337-25C>T (n.3337-25C>T)
c.3451-25C>T (n.3451-25C>T)
c.2680-25C>T (n.2680-25C>T)
c.1234-25C>T (n.1234-25C>T)
c.3448-25C>T (n.3448-25C>T)
c.3103-25C>T (n.3103-25C>T)
c.1837-25C>T (n.1837-25C>T)
n.3220-25C>T
 gnomAD v4
10g.104162066G>TCA2610809306CFAP43c.3334-25C>A (n.3334-25C>A)
c.1416-25C>A
c.3337-25C>A (n.3337-25C>A)
c.3451-25C>A (n.3451-25C>A)
c.2680-25C>A (n.2680-25C>A)
c.1234-25C>A (n.1234-25C>A)
c.3448-25C>A (n.3448-25C>A)
c.3103-25C>A (n.3103-25C>A)
c.1837-25C>A (n.1837-25C>A)
n.3220-25C>A
 gnomAD v4
10g.104162067G>CCA2610809307CFAP43c.3334-26C>G (n.3334-26C>G)
c.1416-26C>G
c.3337-26C>G (n.3337-26C>G)
c.3451-26C>G (n.3451-26C>G)
c.2680-26C>G (n.2680-26C>G)
c.1234-26C>G (n.1234-26C>G)
c.3448-26C>G (n.3448-26C>G)
c.3103-26C>G (n.3103-26C>G)
c.1837-26C>G (n.1837-26C>G)
n.3220-26C>G
 gnomAD v4
10g.104162067G>TCA2610809309CFAP43c.3334-26C>A (n.3334-26C>A)
c.1416-26C>A
c.3337-26C>A (n.3337-26C>A)
c.3451-26C>A (n.3451-26C>A)
c.2680-26C>A (n.2680-26C>A)
c.1234-26C>A (n.1234-26C>A)
c.3448-26C>A (n.3448-26C>A)
c.3103-26C>A (n.3103-26C>A)
c.1837-26C>A (n.1837-26C>A)
n.3220-26C>A
 gnomAD v4
10g.104162069A>CCA2789323714CFAP43c.3334-28T>G (n.3334-28T>G)
c.1416-28T>G
c.3337-28T>G (n.3337-28T>G)
c.3451-28T>G (n.3451-28T>G)
c.2680-28T>G (n.2680-28T>G)
c.1234-28T>G (n.1234-28T>G)
c.3448-28T>G (n.3448-28T>G)
c.3103-28T>G (n.3103-28T>G)
c.1837-28T>G (n.1837-28T>G)
n.3220-28T>G
10g.104162069A>GCA2574662321CFAP43c.3334-28T>C (n.3334-28T>C)
c.1416-28T>C
c.3337-28T>C (n.3337-28T>C)
c.3451-28T>C (n.3451-28T>C)
c.2680-28T>C (n.2680-28T>C)
c.1234-28T>C (n.1234-28T>C)
c.3448-28T>C (n.3448-28T>C)
c.3103-28T>C (n.3103-28T>C)
c.1837-28T>C (n.1837-28T>C)
n.3220-28T>C
10g.104162072C>TCA2610809311CFAP43c.3334-31G>A (n.3334-31G>A)
c.1416-31G>A
c.3337-31G>A (n.3337-31G>A)
c.3451-31G>A (n.3451-31G>A)
c.2680-31G>A (n.2680-31G>A)
c.1234-31G>A (n.1234-31G>A)
c.3448-31G>A (n.3448-31G>A)
c.3103-31G>A (n.3103-31G>A)
c.1837-31G>A (n.1837-31G>A)
n.3220-31G>A
 gnomAD v4
10g.104162073T>CCA1933459973CFAP43c.3334-32A>G (n.3334-32A>G)
c.1416-32A>G
c.3337-32A>G (n.3337-32A>G)
c.3451-32A>G (n.3451-32A>G)
c.2680-32A>G (n.2680-32A>G)
c.1234-32A>G (n.1234-32A>G)
c.3448-32A>G (n.3448-32A>G)
c.3103-32A>G (n.3103-32A>G)
c.1837-32A>G (n.1837-32A>G)
n.3220-32A>G
 dbSNP gnomAD v4
10g.104162073T=CA1933459972CFAP43c.3334-32A= (n.3334-32A=)
c.1416-32A=
c.3337-32A= (n.3337-32A=)
c.3451-32A= (n.3451-32A=)
c.2680-32A= (n.2680-32A=)
c.1234-32A= (n.1234-32A=)
c.3448-32A= (n.3448-32A=)
c.3103-32A= (n.3103-32A=)
c.1837-32A= (n.1837-32A=)
n.3220-32A=
10g.104162074G>TCA2610809313CFAP43c.3334-33C>A (n.3334-33C>A)
c.1416-33C>A
c.3337-33C>A (n.3337-33C>A)
c.3451-33C>A (n.3451-33C>A)
c.2680-33C>A (n.2680-33C>A)
c.1234-33C>A (n.1234-33C>A)
c.3448-33C>A (n.3448-33C>A)
c.3103-33C>A (n.3103-33C>A)
c.1837-33C>A (n.1837-33C>A)
n.3220-33C>A
 gnomAD v4
10g.104162076G>CCA932054233CFAP43c.3334-35C>G (n.3334-35C>G)
c.1416-35C>G
c.3337-35C>G (n.3337-35C>G)
c.3451-35C>G (n.3451-35C>G)
c.2680-35C>G (n.2680-35C>G)
c.1234-35C>G (n.1234-35C>G)
c.3448-35C>G (n.3448-35C>G)
c.3103-35C>G (n.3103-35C>G)
c.1837-35C>G (n.1837-35C>G)
n.3220-35C>G
 dbSNP gnomAD v3 gnomAD v4
10g.104162076G=CA1933459975CFAP43c.3334-35C= (n.3334-35C=)
c.1416-35C=
c.3337-35C= (n.3337-35C=)
c.3451-35C= (n.3451-35C=)
c.2680-35C= (n.2680-35C=)
c.1234-35C= (n.1234-35C=)
c.3448-35C= (n.3448-35C=)
c.3103-35C= (n.3103-35C=)
c.1837-35C= (n.1837-35C=)
n.3220-35C=
10g.104162076G>TCA2610809314CFAP43c.3334-35C>A (n.3334-35C>A)
c.1416-35C>A
c.3337-35C>A (n.3337-35C>A)
c.3451-35C>A (n.3451-35C>A)
c.2680-35C>A (n.2680-35C>A)
c.1234-35C>A (n.1234-35C>A)
c.3448-35C>A (n.3448-35C>A)
c.3103-35C>A (n.3103-35C>A)
c.1837-35C>A (n.1837-35C>A)
n.3220-35C>A
 gnomAD v4
10g.104162077A>CCA2789323715CFAP43c.3334-36T>G (n.3334-36T>G)
c.1416-36T>G
c.3337-36T>G (n.3337-36T>G)
c.3451-36T>G (n.3451-36T>G)
c.2680-36T>G (n.2680-36T>G)
c.1234-36T>G (n.1234-36T>G)
c.3448-36T>G (n.3448-36T>G)
c.3103-36T>G (n.3103-36T>G)
c.1837-36T>G (n.1837-36T>G)
n.3220-36T>G
10g.104162078C>ACA2610809316CFAP43c.3334-37G>T (n.3334-37G>T)
c.1416-37G>T
c.3337-37G>T (n.3337-37G>T)
c.3451-37G>T (n.3451-37G>T)
c.2680-37G>T (n.2680-37G>T)
c.1234-37G>T (n.1234-37G>T)
c.3448-37G>T (n.3448-37G>T)
c.3103-37G>T (n.3103-37G>T)
c.1837-37G>T (n.1837-37G>T)
n.3220-37G>T
 gnomAD v4
10g.104162079dupCA2610809318CFAP43c.3334-38dup (n.3334-38dup)
c.1416-38dup
c.3337-38dup (n.3337-38dup)
c.3451-38dup (n.3451-38dup)
c.2680-38dup (n.2680-38dup)
c.1234-38dup (n.1234-38dup)
c.3448-38dup (n.3448-38dup)
c.3103-38dup (n.3103-38dup)
c.1837-38dup (n.1837-38dup)
n.3220-38dup
 gnomAD v4
10g.104162080G>ACA2610809319CFAP43c.3334-39C>T (n.3334-39C>T)
c.1416-39C>T
c.3337-39C>T (n.3337-39C>T)
c.3451-39C>T (n.3451-39C>T)
c.2680-39C>T (n.2680-39C>T)
c.1234-39C>T (n.1234-39C>T)
c.3448-39C>T (n.3448-39C>T)
c.3103-39C>T (n.3103-39C>T)
c.1837-39C>T (n.1837-39C>T)
n.3220-39C>T
 gnomAD v4
10g.104162082G>ACA2574662322CFAP43c.3334-41C>T (n.3334-41C>T)
c.1416-41C>T
c.3337-41C>T (n.3337-41C>T)
c.3451-41C>T (n.3451-41C>T)
c.2680-41C>T (n.2680-41C>T)
c.1234-41C>T (n.1234-41C>T)
c.3448-41C>T (n.3448-41C>T)
c.3103-41C>T (n.3103-41C>T)
c.1837-41C>T (n.1837-41C>T)
n.3220-41C>T
 dbSNP
10g.104162082G>TCA2610809321CFAP43c.3334-41C>A (n.3334-41C>A)
c.1416-41C>A
c.3337-41C>A (n.3337-41C>A)
c.3451-41C>A (n.3451-41C>A)
c.2680-41C>A (n.2680-41C>A)
c.1234-41C>A (n.1234-41C>A)
c.3448-41C>A (n.3448-41C>A)
c.3103-41C>A (n.3103-41C>A)
c.1837-41C>A (n.1837-41C>A)
n.3220-41C>A
 gnomAD v4
10g.104162083A=CA1933459977CFAP43c.3334-42T= (n.3334-42T=)
c.1416-42T=
c.3337-42T= (n.3337-42T=)
c.3451-42T= (n.3451-42T=)
c.2680-42T= (n.2680-42T=)
c.1234-42T= (n.1234-42T=)
c.3448-42T= (n.3448-42T=)
c.3103-42T= (n.3103-42T=)
c.1837-42T= (n.1837-42T=)
n.3220-42T=
10g.104162083A>CCA595676323CFAP43c.3334-42T>G (n.3334-42T>G)
c.1416-42T>G
c.3337-42T>G (n.3337-42T>G)
c.3451-42T>G (n.3451-42T>G)
c.2680-42T>G (n.2680-42T>G)
c.1234-42T>G (n.1234-42T>G)
c.3448-42T>G (n.3448-42T>G)
c.3103-42T>G (n.3103-42T>G)
c.1837-42T>G (n.1837-42T>G)
n.3220-42T>G
 dbSNP gnomAD v2 gnomAD v4
10g.104162083A>TCA5680334CFAP43c.3334-42T>A (n.3334-42T>A)
c.1416-42T>A
c.3337-42T>A (n.3337-42T>A)
c.3451-42T>A (n.3451-42T>A)
c.2680-42T>A (n.2680-42T>A)
c.1234-42T>A (n.1234-42T>A)
c.3448-42T>A (n.3448-42T>A)
c.3103-42T>A (n.3103-42T>A)
c.1837-42T>A (n.1837-42T>A)
n.3220-42T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104162086T>ACA2610809325CFAP43c.3334-45A>T (n.3334-45A>T)
c.1416-45A>T
c.3337-45A>T (n.3337-45A>T)
c.3451-45A>T (n.3451-45A>T)
c.2680-45A>T (n.2680-45A>T)
c.1234-45A>T (n.1234-45A>T)
c.3448-45A>T (n.3448-45A>T)
c.3103-45A>T (n.3103-45A>T)
c.1837-45A>T (n.1837-45A>T)
n.3220-45A>T
 gnomAD v4
10g.104162086T>CCA2574662323CFAP43c.3334-45A>G (n.3334-45A>G)
c.1416-45A>G
c.3337-45A>G (n.3337-45A>G)
c.3451-45A>G (n.3451-45A>G)
c.2680-45A>G (n.2680-45A>G)
c.1234-45A>G (n.1234-45A>G)
c.3448-45A>G (n.3448-45A>G)
c.3103-45A>G (n.3103-45A>G)
c.1837-45A>G (n.1837-45A>G)
n.3220-45A>G
10g.104162087delCA2610809327CFAP43c.3334-46del (n.3334-46del)
c.1416-46del
c.3337-46del (n.3337-46del)
c.3451-46del (n.3451-46del)
c.2680-46del (n.2680-46del)
c.1234-46del (n.1234-46del)
c.3448-46del (n.3448-46del)
c.3103-46del (n.3103-46del)
c.1837-46del (n.1837-46del)
n.3220-46del
 gnomAD v4
10g.104162087G>TCA2610809329CFAP43c.3334-46C>A (n.3334-46C>A)
c.1416-46C>A
c.3337-46C>A (n.3337-46C>A)
c.3451-46C>A (n.3451-46C>A)
c.2680-46C>A (n.2680-46C>A)
c.1234-46C>A (n.1234-46C>A)
c.3448-46C>A (n.3448-46C>A)
c.3103-46C>A (n.3103-46C>A)
c.1837-46C>A (n.1837-46C>A)
n.3220-46C>A
 gnomAD v4
10g.104162088A=CA1933459981CFAP43c.3334-47T= (n.3334-47T=)
c.1416-47T=
c.3337-47T= (n.3337-47T=)
c.3451-47T= (n.3451-47T=)
c.2680-47T= (n.2680-47T=)
c.1234-47T= (n.1234-47T=)
c.3448-47T= (n.3448-47T=)
c.3103-47T= (n.3103-47T=)
c.1837-47T= (n.1837-47T=)
n.3220-47T=
10g.104162088A>GCA2574662324CFAP43c.3334-47T>C (n.3334-47T>C)
c.1416-47T>C
c.3337-47T>C (n.3337-47T>C)
c.3451-47T>C (n.3451-47T>C)
c.2680-47T>C (n.2680-47T>C)
c.1234-47T>C (n.1234-47T>C)
c.3448-47T>C (n.3448-47T>C)
c.3103-47T>C (n.3103-47T>C)
c.1837-47T>C (n.1837-47T>C)
n.3220-47T>C
10g.104162088A>TCA1933459982CFAP43c.3334-47T>A (n.3334-47T>A)
c.1416-47T>A
c.3337-47T>A (n.3337-47T>A)
c.3451-47T>A (n.3451-47T>A)
c.2680-47T>A (n.2680-47T>A)
c.1234-47T>A (n.1234-47T>A)
c.3448-47T>A (n.3448-47T>A)
c.3103-47T>A (n.3103-47T>A)
c.1837-47T>A (n.1837-47T>A)
n.3220-47T>A
 dbSNP gnomAD v4

Number of alleles fetched