Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.20425419_20425499delCA2655397079SCARF2c.2485_2565del (p.Thr829_Ala855del)
c.2497_2577del (p.Thr833_Ala859del)
c.2500_2580del (p.Thr834_Ala860del)
gnomAD v4
22g.20425435C>ACA513694075SCARF2c.2541G>T (p.Pro847=)
c.2553G>T (p.Pro851=)
c.2556G>T (p.Pro852=)
gnomAD v4
22g.20425435C=CA2396362430SCARF2c.2541G= (p.Pro847=)
c.2553G= (p.Pro851=)
c.2556G= (p.Pro852=)
22g.20425435C>GCA513694077SCARF2c.2541G>C (p.Pro847=)
c.2553G>C (p.Pro851=)
c.2556G>C (p.Pro852=)
22g.20425435C>TCA322181848SCARF2c.2541G>A (p.Pro847=)
c.2553G>A (p.Pro851=)
c.2556G>A (p.Pro852=)
dbSNP gnomAD v4
22g.20425436G>ACA410737640SCARF2c.2540C>T (p.Pro847Leu)
c.2552C>T (p.Pro851Leu)
c.2555C>T (p.Pro852Leu)
gnomAD v4
22g.20425436G>CCA410737646SCARF2c.2540C>G (p.Pro847Arg)
c.2552C>G (p.Pro851Arg)
c.2555C>G (p.Pro852Arg)
gnomAD v4
22g.20425436G=CA2396362431SCARF2c.2540C= (p.Pro847=)
c.2552C= (p.Pro851=)
c.2555C= (p.Pro852=)
22g.20425436G>TCA410737643SCARF2c.2540C>A (p.Pro847Gln)
c.2552C>A (p.Pro851Gln)
c.2555C>A (p.Pro852Gln)
dbSNP gnomAD v4
22g.20425437G>ACA410737650SCARF2c.2539C>T (p.Pro847Ser)
c.2551C>T (p.Pro851Ser)
c.2554C>T (p.Pro852Ser)
gnomAD v4
22g.20425437G>CCA410737653SCARF2c.2539C>G (p.Pro847Ala)
c.2551C>G (p.Pro851Ala)
c.2554C>G (p.Pro852Ala)
22g.20425437G>TCA410737656SCARF2c.2539C>A (p.Pro847Thr)
c.2551C>A (p.Pro851Thr)
c.2554C>A (p.Pro852Thr)
gnomAD v4
22g.20425438C>ACA513694081SCARF2c.2538G>T (p.Pro846=)
c.2550G>T (p.Pro850=)
c.2553G>T (p.Pro851=)
gnomAD v4
22g.20425438C=CA2396362432SCARF2c.2538G= (p.Pro846=)
c.2550G= (p.Pro850=)
c.2553G= (p.Pro851=)
22g.20425438C>GCA513694080SCARF2c.2538G>C (p.Pro846=)
c.2550G>C (p.Pro850=)
c.2553G>C (p.Pro851=)
dbSNP
22g.20425438C>TCA10112145SCARF2c.2538G>A (p.Pro846=)
c.2550G>A (p.Pro850=)
c.2553G>A (p.Pro851=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425439G>ACA410737662SCARF2c.2537C>T (p.Pro846Leu)
c.2549C>T (p.Pro850Leu)
c.2552C>T (p.Pro851Leu)
gnomAD v4
22g.20425439G>CCA410737665SCARF2c.2537C>G (p.Pro846Arg)
c.2549C>G (p.Pro850Arg)
c.2552C>G (p.Pro851Arg)
22g.20425439G>TCA410737667SCARF2c.2537C>A (p.Pro846Gln)
c.2549C>A (p.Pro850Gln)
c.2552C>A (p.Pro851Gln)
gnomAD v4
22g.20425440delCA2818417610SCARF2c.2537del (p.Pro846ArgfsTer?)
c.2549del (p.Pro850ArgfsTer?)
c.2552del (p.Pro851ArgfsTer?)
22g.20425440G>ACA410737671SCARF2c.2536C>T (p.Pro846Ser)
c.2548C>T (p.Pro850Ser)
c.2551C>T (p.Pro851Ser)
gnomAD v4
22g.20425440G>CCA410737674SCARF2c.2536C>G (p.Pro846Ala)
c.2548C>G (p.Pro850Ala)
c.2551C>G (p.Pro851Ala)
22g.20425440G>TCA410737677SCARF2c.2536C>A (p.Pro846Thr)
c.2548C>A (p.Pro850Thr)
c.2551C>A (p.Pro851Thr)
gnomAD v4
22g.20425441C>ACA410737683SCARF2c.2535G>T (p.Lys845Asn)
c.2547G>T (p.Lys849Asn)
c.2550G>T (p.Lys850Asn)
gnomAD v4
22g.20425441C>GCA410737681SCARF2c.2535G>C (p.Lys845Asn)
c.2547G>C (p.Lys849Asn)
c.2550G>C (p.Lys850Asn)
gnomAD v4
22g.20425441C>TCA513694083SCARF2c.2535G>A (p.Lys845=)
c.2547G>A (p.Lys849=)
c.2550G>A (p.Lys850=)
gnomAD v4
22g.20425442T>ACA410737688SCARF2c.2534A>T (p.Lys845Met)
c.2546A>T (p.Lys849Met)
c.2549A>T (p.Lys850Met)
22g.20425442T>CCA410737691SCARF2c.2534A>G (p.Lys845Arg)
c.2546A>G (p.Lys849Arg)
c.2549A>G (p.Lys850Arg)
dbSNP gnomAD v4
22g.20425442T>GCA410737694SCARF2c.2534A>C (p.Lys845Thr)
c.2546A>C (p.Lys849Thr)
c.2549A>C (p.Lys850Thr)
gnomAD v4
22g.20425442T=CA2396362433SCARF2c.2534A= (p.Lys845=)
c.2546A= (p.Lys849=)
c.2549A= (p.Lys850=)
22g.20425443delCA2655397087SCARF2c.2534del (p.Lys845SerfsTer?)
c.2546del (p.Lys849SerfsTer?)
c.2549del (p.Lys850SerfsTer?)
gnomAD v4
22g.20425443T>ACA410737698SCARF2c.2533A>T (p.Lys845Ter)
c.2545A>T (p.Lys849Ter)
c.2548A>T (p.Lys850Ter)
gnomAD v4
22g.20425443T>CCA410737700SCARF2c.2533A>G (p.Lys845Glu)
c.2545A>G (p.Lys849Glu)
c.2548A>G (p.Lys850Glu)
gnomAD v4
22g.20425443T>GCA410737705SCARF2c.2533A>C (p.Lys845Gln)
c.2545A>C (p.Lys849Gln)
c.2548A>C (p.Lys850Gln)
22g.20425444_20425445delCA2655397088SCARF2c.2532_2533del (p.Lys845AlafsTer?)
c.2544_2545del (p.Lys849AlafsTer?)
c.2547_2548del (p.Lys850AlafsTer?)
gnomAD v4
22g.20425444C>ACA410737708SCARF2c.2532G>T (p.Gln844His)
c.2544G>T (p.Gln848His)
c.2547G>T (p.Gln849His)
gnomAD v4
22g.20425444C>GCA410737711SCARF2c.2532G>C (p.Gln844His)
c.2544G>C (p.Gln848His)
c.2547G>C (p.Gln849His)
gnomAD v4
22g.20425444C>TCA513694086SCARF2c.2532G>A (p.Gln844=)
c.2544G>A (p.Gln848=)
c.2547G>A (p.Gln849=)
gnomAD v4
22g.20425444_20425445delinsCTCA2396362434SCARF2c.2531_2532delinsAG (p.Gln844=)
c.2543_2544delinsAG (p.Gln848=)
c.2546_2547delinsAG (p.Gln849=)
22g.20425445delCA170612SCARF2c.2531del (p.Gln844ArgfsTer?)
c.2543del (p.Gln848ArgfsTer?)
c.2546del (p.Gln849ArgfsTer?)
ClinVar dbSNP
22g.20425445T>ACA410737715SCARF2c.2531A>T (p.Gln844Leu)
c.2543A>T (p.Gln848Leu)
c.2546A>T (p.Gln849Leu)
22g.20425445T>CCA410737718SCARF2c.2531A>G (p.Gln844Arg)
c.2543A>G (p.Gln848Arg)
c.2546A>G (p.Gln849Arg)
gnomAD v4
22g.20425445T>GCA410737722SCARF2c.2531A>C (p.Gln844Pro)
c.2543A>C (p.Gln848Pro)
c.2546A>C (p.Gln849Pro)
22g.20425446G>ACA410737730SCARF2c.2530C>T (p.Gln844Ter)
c.2542C>T (p.Gln848Ter)
c.2545C>T (p.Gln849Ter)
gnomAD v4
22g.20425446G>CCA410737732SCARF2c.2530C>G (p.Gln844Glu)
c.2542C>G (p.Gln848Glu)
c.2545C>G (p.Gln849Glu)
22g.20425446G>TCA410737727SCARF2c.2530C>A (p.Gln844Lys)
c.2542C>A (p.Gln848Lys)
c.2545C>A (p.Gln849Lys)
gnomAD v4
22g.20425447delCA2655397089SCARF2c.2530del (p.Gln844ArgfsTer?)
c.2542del (p.Gln848ArgfsTer?)
c.2545del (p.Gln849ArgfsTer?)
gnomAD v4
22g.20425447G>ACA513694089SCARF2c.2529C>T (p.Ile843=)
c.2541C>T (p.Ile847=)
c.2544C>T (p.Ile848=)
gnomAD v4
22g.20425447G>CCA410737741SCARF2c.2529C>G (p.Ile843Met)
c.2541C>G (p.Ile847Met)
c.2544C>G (p.Ile848Met)
22g.20425447G=CA2396362435SCARF2c.2529C= (p.Ile843=)
c.2541C= (p.Ile847=)
c.2544C= (p.Ile848=)
22g.20425447G>TCA513694088SCARF2c.2529C>A (p.Ile843=)
c.2541C>A (p.Ile847=)
c.2544C>A (p.Ile848=)
gnomAD v4
22g.20425448A=CA2396362436SCARF2c.2528T= (p.Ile843=)
c.2540T= (p.Ile847=)
c.2543T= (p.Ile848=)
22g.20425448A>CCA410737745SCARF2c.2528T>G (p.Ile843Ser)
c.2540T>G (p.Ile847Ser)
c.2543T>G (p.Ile848Ser)
gnomAD v4
22g.20425448A>GCA410737748SCARF2c.2528T>C (p.Ile843Thr)
c.2540T>C (p.Ile847Thr)
c.2543T>C (p.Ile848Thr)
gnomAD v4
22g.20425448A>TCA322181858SCARF2c.2528T>A (p.Ile843Asn)
c.2540T>A (p.Ile847Asn)
c.2543T>A (p.Ile848Asn)
dbSNP gnomAD v4
22g.20425448dupCA638940754SCARF2c.2528dup (p.Gln844ProfsTer?)
c.2540dup (p.Gln848ProfsTer?)
c.2543dup (p.Gln849ProfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425449T>ACA410737761SCARF2c.2527A>T (p.Ile843Phe)
c.2539A>T (p.Ile847Phe)
c.2542A>T (p.Ile848Phe)
gnomAD v4
22g.20425449T>CCA410737758SCARF2c.2527A>G (p.Ile843Val)
c.2539A>G (p.Ile847Val)
c.2542A>G (p.Ile848Val)
gnomAD v4
22g.20425449T>GCA410737755SCARF2c.2527A>C (p.Ile843Leu)
c.2539A>C (p.Ile847Leu)
c.2542A>C (p.Ile848Leu)
22g.20425450G>ACA513694092SCARF2c.2526C>T (p.Pro842=)
c.2538C>T (p.Pro846=)
c.2541C>T (p.Pro847=)
dbSNP gnomAD v2 gnomAD v4
22g.20425450G>CCA513694093SCARF2c.2526C>G (p.Pro842=)
c.2538C>G (p.Pro846=)
c.2541C>G (p.Pro847=)
22g.20425450G=CA2396362437SCARF2c.2526C= (p.Pro842=)
c.2538C= (p.Pro846=)
c.2541C= (p.Pro847=)
22g.20425450G>TCA513694091SCARF2c.2526C>A (p.Pro842=)
c.2538C>A (p.Pro846=)
c.2541C>A (p.Pro847=)
gnomAD v4
22g.20425454dupCA2655397090SCARF2c.2526dup (p.Ile843HisfsTer?)
c.2538dup (p.Ile847HisfsTer?)
c.2541dup (p.Ile848HisfsTer?)
gnomAD v4
22g.20425454delCA2655397091SCARF2c.2526del (p.Ile843SerfsTer?)
c.2538del (p.Ile847SerfsTer?)
c.2541del (p.Ile848SerfsTer?)
gnomAD v4
22g.20425451G>ACA410737766SCARF2c.2525C>T (p.Pro842Leu)
c.2537C>T (p.Pro846Leu)
c.2540C>T (p.Pro847Leu)
dbSNP gnomAD v2 gnomAD v4
22g.20425451G>CCA410737768SCARF2c.2525C>G (p.Pro842Arg)
c.2537C>G (p.Pro846Arg)
c.2540C>G (p.Pro847Arg)
gnomAD v4
22g.20425451G=CA2396362438SCARF2c.2525C= (p.Pro842=)
c.2537C= (p.Pro846=)
c.2540C= (p.Pro847=)
22g.20425451G>TCA410737771SCARF2c.2525C>A (p.Pro842His)
c.2537C>A (p.Pro846His)
c.2540C>A (p.Pro847His)
gnomAD v4
22g.20425452G>ACA410737776SCARF2c.2524C>T (p.Pro842Ser)
c.2536C>T (p.Pro846Ser)
c.2539C>T (p.Pro847Ser)
gnomAD v4
22g.20425452G>CCA410737778SCARF2c.2524C>G (p.Pro842Ala)
c.2536C>G (p.Pro846Ala)
c.2539C>G (p.Pro847Ala)
dbSNP gnomAD v3 gnomAD v4
22g.20425452G=CA2396362439SCARF2c.2524C= (p.Pro842=)
c.2536C= (p.Pro846=)
c.2539C= (p.Pro847=)
22g.20425452G>TCA410737782SCARF2c.2524C>A (p.Pro842Thr)
c.2536C>A (p.Pro846Thr)
c.2539C>A (p.Pro847Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425453G>ACA513694097SCARF2c.2523C>T (p.Thr841=)
c.2535C>T (p.Thr845=)
c.2538C>T (p.Thr846=)
gnomAD v4
22g.20425453G>CCA513694095SCARF2c.2523C>G (p.Thr841=)
c.2535C>G (p.Thr845=)
c.2538C>G (p.Thr846=)
dbSNP gnomAD v3 gnomAD v4
22g.20425453G=CA2396362440SCARF2c.2523C= (p.Thr841=)
c.2535C= (p.Thr845=)
c.2538C= (p.Thr846=)
22g.20425453G>TCA513694098SCARF2c.2523C>A (p.Thr841=)
c.2535C>A (p.Thr845=)
c.2538C>A (p.Thr846=)
gnomAD v4
22g.20425454G>ACA10112146SCARF2c.2522C>T (p.Thr841Ile)
c.2534C>T (p.Thr845Ile)
c.2537C>T (p.Thr846Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425454G>CCA410737791SCARF2c.2522C>G (p.Thr841Ser)
c.2534C>G (p.Thr845Ser)
c.2537C>G (p.Thr846Ser)
22g.20425454G=CA2396362441SCARF2c.2522C= (p.Thr841=)
c.2534C= (p.Thr845=)
c.2537C= (p.Thr846=)
22g.20425454G>TCA410737788SCARF2c.2522C>A (p.Thr841Asn)
c.2534C>A (p.Thr845Asn)
c.2537C>A (p.Thr846Asn)
gnomAD v4
22g.20425454_20425456delCA2818417611SCARF2c.2520_2522del (p.Lys840_Thr841delinsAsn)
c.2532_2534del (p.Lys844_Thr845delinsAsn)
c.2535_2537del (p.Lys845_Thr846delinsAsn)
22g.20425454_20425457delinsGTCTCA2396362442SCARF2c.2519_2522delinsAGAC (p.Lys840=)
c.2531_2534delinsAGAC (p.Lys844=)
c.2534_2537delinsAGAC (p.Lys845=)
22g.20425455T>ACA410737797SCARF2c.2521A>T (p.Thr841Ser)
c.2533A>T (p.Thr845Ser)
c.2536A>T (p.Thr846Ser)
gnomAD v4
22g.20425455T>CCA410737800SCARF2c.2521A>G (p.Thr841Ala)
c.2533A>G (p.Thr845Ala)
c.2536A>G (p.Thr846Ala)
gnomAD v4
22g.20425455T>GCA410737803SCARF2c.2521A>C (p.Thr841Pro)
c.2533A>C (p.Thr845Pro)
c.2536A>C (p.Thr846Pro)
gnomAD v4
22g.20425460_20425462delCA10112147SCARF2c.2519_2521del (p.Lys840del)
c.2531_2533del (p.Lys844del)
c.2534_2536del (p.Lys845del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425456C>ACA410737806SCARF2c.2520G>T (p.Lys840Asn)
c.2532G>T (p.Lys844Asn)
c.2535G>T (p.Lys845Asn)
gnomAD v4
22g.20425456C>GCA410737810SCARF2c.2520G>C (p.Lys840Asn)
c.2532G>C (p.Lys844Asn)
c.2535G>C (p.Lys845Asn)
gnomAD v4
22g.20425456C>TCA513694101SCARF2c.2520G>A (p.Lys840=)
c.2532G>A (p.Lys844=)
c.2535G>A (p.Lys845=)
gnomAD v4
22g.20425457T>ACA410737814SCARF2c.2519A>T (p.Lys840Met)
c.2531A>T (p.Lys844Met)
c.2534A>T (p.Lys845Met)
gnomAD v4
22g.20425457T>CCA410737816SCARF2c.2519A>G (p.Lys840Arg)
c.2531A>G (p.Lys844Arg)
c.2534A>G (p.Lys845Arg)
gnomAD v4
22g.20425457T>GCA410737819SCARF2c.2519A>C (p.Lys840Thr)
c.2531A>C (p.Lys844Thr)
c.2534A>C (p.Lys845Thr)
gnomAD v4
22g.20425458T>ACA410737822SCARF2c.2518A>T (p.Lys840Ter)
c.2530A>T (p.Lys844Ter)
c.2533A>T (p.Lys845Ter)
gnomAD v4
22g.20425458T>CCA410737825SCARF2c.2518A>G (p.Lys840Glu)
c.2530A>G (p.Lys844Glu)
c.2533A>G (p.Lys845Glu)
gnomAD v4
22g.20425458T>GCA410737828SCARF2c.2518A>C (p.Lys840Gln)
c.2530A>C (p.Lys844Gln)
c.2533A>C (p.Lys845Gln)
gnomAD v4
22g.20425459C>ACA410737832SCARF2c.2517G>T (p.Lys839Asn)
c.2529G>T (p.Lys843Asn)
c.2532G>T (p.Lys844Asn)
gnomAD v4
22g.20425459C>GCA410737835SCARF2c.2517G>C (p.Lys839Asn)
c.2529G>C (p.Lys843Asn)
c.2532G>C (p.Lys844Asn)
gnomAD v4
22g.20425459C>TCA513694103SCARF2c.2517G>A (p.Lys839=)
c.2529G>A (p.Lys843=)
c.2532G>A (p.Lys844=)
gnomAD v4
22g.20425460T>ACA410737843SCARF2c.2516A>T (p.Lys839Met)
c.2528A>T (p.Lys843Met)
c.2531A>T (p.Lys844Met)
22g.20425460T>CCA410737841SCARF2c.2516A>G (p.Lys839Arg)
c.2528A>G (p.Lys843Arg)
c.2531A>G (p.Lys844Arg)
gnomAD v4
22g.20425460T>GCA322181883SCARF2c.2516A>C (p.Lys839Thr)
c.2528A>C (p.Lys843Thr)
c.2531A>C (p.Lys844Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425460T=CA2396362443SCARF2c.2516A= (p.Lys839=)
c.2528A= (p.Lys843=)
c.2531A= (p.Lys844=)
22g.20425461T>ACA410737845SCARF2c.2515A>T (p.Lys839Ter)
c.2527A>T (p.Lys843Ter)
c.2530A>T (p.Lys844Ter)
22g.20425461T>CCA410737847SCARF2c.2515A>G (p.Lys839Glu)
c.2527A>G (p.Lys843Glu)
c.2530A>G (p.Lys844Glu)
dbSNP gnomAD v3 gnomAD v4
22g.20425461T>GCA410737850SCARF2c.2515A>C (p.Lys839Gln)
c.2527A>C (p.Lys843Gln)
c.2530A>C (p.Lys844Gln)
gnomAD v4
22g.20425461T=CA2396362444SCARF2c.2515A= (p.Lys839=)
c.2527A= (p.Lys843=)
c.2530A= (p.Lys844=)
22g.20425462C>ACA513694108SCARF2c.2514G>T (p.Arg838=)
c.2526G>T (p.Arg842=)
c.2529G>T (p.Arg843=)
gnomAD v4
22g.20425462C=CA2396362445SCARF2c.2514G= (p.Arg838=)
c.2526G= (p.Arg842=)
c.2529G= (p.Arg843=)
22g.20425462C>GCA513694109SCARF2c.2514G>C (p.Arg838=)
c.2526G>C (p.Arg842=)
c.2529G>C (p.Arg843=)
gnomAD v4
22g.20425462C>TCA513694107SCARF2c.2514G>A (p.Arg838=)
c.2526G>A (p.Arg842=)
c.2529G>A (p.Arg843=)
dbSNP gnomAD v4
22g.20425463C>ACA410737854SCARF2c.2513G>T (p.Arg838Leu)
c.2525G>T (p.Arg842Leu)
c.2528G>T (p.Arg843Leu)
gnomAD v4
22g.20425463C=CA2396362446SCARF2c.2513G= (p.Arg838=)
c.2525G= (p.Arg842=)
c.2528G= (p.Arg843=)
22g.20425463C>GCA410737857SCARF2c.2513G>C (p.Arg838Pro)
c.2525G>C (p.Arg842Pro)
c.2528G>C (p.Arg843Pro)
gnomAD v4
22g.20425463C>TCA10112148SCARF2c.2513G>A (p.Arg838Gln)
c.2525G>A (p.Arg842Gln)
c.2528G>A (p.Arg843Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425464G>ACA10112149SCARF2c.2512C>T (p.Arg838Trp)
c.2524C>T (p.Arg842Trp)
c.2527C>T (p.Arg843Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425464G>CCA410737862SCARF2c.2512C>G (p.Arg838Gly)
c.2524C>G (p.Arg842Gly)
c.2527C>G (p.Arg843Gly)
gnomAD v4
22g.20425464G=CA2396362447SCARF2c.2512C= (p.Arg838=)
c.2524C= (p.Arg842=)
c.2527C= (p.Arg843=)
22g.20425464G>TCA513694111SCARF2c.2512C>A (p.Arg838=)
c.2524C>A (p.Arg842=)
c.2527C>A (p.Arg843=)
gnomAD v4
22g.20425469dupCA638940755SCARF2c.2512dup (p.Arg838ProfsTer?)
c.2524dup (p.Arg842ProfsTer?)
c.2527dup (p.Arg843ProfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425469delCA638940756SCARF2c.2512del (p.Arg838GlyfsTer?)
c.2524del (p.Arg842GlyfsTer?)
c.2527del (p.Arg843GlyfsTer?)
gnomAD v2 gnomAD v4
22g.20425465G>ACA513694113SCARF2c.2511C>T (p.Pro837=)
c.2523C>T (p.Pro841=)
c.2526C>T (p.Pro842=)
dbSNP gnomAD v4
22g.20425465G>CCA513694115SCARF2c.2511C>G (p.Pro837=)
c.2523C>G (p.Pro841=)
c.2526C>G (p.Pro842=)
22g.20425465G=CA2396362448SCARF2c.2511C= (p.Pro837=)
c.2523C= (p.Pro841=)
c.2526C= (p.Pro842=)
22g.20425465G>TCA513694114SCARF2c.2511C>A (p.Pro837=)
c.2523C>A (p.Pro841=)
c.2526C>A (p.Pro842=)
gnomAD v4
22g.20425466G>ACA410737865SCARF2c.2510C>T (p.Pro837Leu)
c.2522C>T (p.Pro841Leu)
c.2525C>T (p.Pro842Leu)
gnomAD v4
22g.20425466G>CCA410737867SCARF2c.2510C>G (p.Pro837Arg)
c.2522C>G (p.Pro841Arg)
c.2525C>G (p.Pro842Arg)
gnomAD v4
22g.20425466G>TCA410737870SCARF2c.2510C>A (p.Pro837His)
c.2522C>A (p.Pro841His)
c.2525C>A (p.Pro842His)
gnomAD v4
22g.20425467G>ACA322181904SCARF2c.2509C>T (p.Pro837Ser)
c.2521C>T (p.Pro841Ser)
c.2524C>T (p.Pro842Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425467G>CCA410737876SCARF2c.2509C>G (p.Pro837Ala)
c.2521C>G (p.Pro841Ala)
c.2524C>G (p.Pro842Ala)
gnomAD v4
22g.20425467G=CA2396362449SCARF2c.2509C= (p.Pro837=)
c.2521C= (p.Pro841=)
c.2524C= (p.Pro842=)
22g.20425467G>TCA322181910SCARF2c.2509C>A (p.Pro837Thr)
c.2521C>A (p.Pro841Thr)
c.2524C>A (p.Pro842Thr)
dbSNP gnomAD v4
22g.20425468G>ACA513694119SCARF2c.2508C>T (p.Thr836=)
c.2520C>T (p.Thr840=)
c.2523C>T (p.Thr841=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425468G>CCA513694121SCARF2c.2508C>G (p.Thr836=)
c.2520C>G (p.Thr840=)
c.2523C>G (p.Thr841=)
gnomAD v4
22g.20425468G=CA2396362450SCARF2c.2508C= (p.Thr836=)
c.2520C= (p.Thr840=)
c.2523C= (p.Thr841=)
22g.20425468G>TCA513694120SCARF2c.2508C>A (p.Thr836=)
c.2520C>A (p.Thr840=)
c.2523C>A (p.Thr841=)
gnomAD v4
22g.20425469G>ACA410737884SCARF2c.2507C>T (p.Thr836Ile)
c.2519C>T (p.Thr840Ile)
c.2522C>T (p.Thr841Ile)
dbSNP gnomAD v3 gnomAD v4
22g.20425469G>CCA10112151SCARF2c.2507C>G (p.Thr836Ser)
c.2519C>G (p.Thr840Ser)
c.2522C>G (p.Thr841Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425469G=CA2396362452SCARF2c.2507C= (p.Thr836=)
c.2519C= (p.Thr840=)
c.2522C= (p.Thr841=)
22g.20425469G>TCA10112152SCARF2c.2507C>A (p.Thr836Asn)
c.2519C>A (p.Thr840Asn)
c.2522C>A (p.Thr841Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425469_20425499delinsGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCTCA2396362451SCARF2c.2477_2507delinsAGGCGGCGACCGACTTGCCCGCGCCTGAGAC (p.Lys826=)
c.2489_2519delinsAGGCGGCGACCGACTTGCCCGCGCCTGAGAC (p.Lys830=)
c.2492_2522delinsAGGCGGCGACCGACTTGCCCGCGCCTGAGAC (p.Lys831=)
22g.20425470T>ACA322181915SCARF2c.2506A>T (p.Thr836Ser)
c.2518A>T (p.Thr840Ser)
c.2521A>T (p.Thr841Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425470T>CCA10112153SCARF2c.2506A>G (p.Thr836Ala)
c.2518A>G (p.Thr840Ala)
c.2521A>G (p.Thr841Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425470T>GCA410737889SCARF2c.2506A>C (p.Thr836Pro)
c.2518A>C (p.Thr840Pro)
c.2521A>C (p.Thr841Pro)
gnomAD v4
22g.20425470T=CA2396362453SCARF2c.2506A= (p.Thr836=)
c.2518A= (p.Thr840=)
c.2521A= (p.Thr841=)
22g.20425478_20425507delCA10112150SCARF2c.2477_2506del (p.Lys826_Glu835del)
c.2489_2518del (p.Lys830_Glu839del)
c.2492_2521del (p.Lys831_Glu840del)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425471C>ACA410737896SCARF2c.2505G>T (p.Glu835Asp)
c.2517G>T (p.Glu839Asp)
c.2520G>T (p.Glu840Asp)
gnomAD v4
22g.20425471C>GCA410737897SCARF2c.2505G>C (p.Glu835Asp)
c.2517G>C (p.Glu839Asp)
c.2520G>C (p.Glu840Asp)
gnomAD v4
22g.20425471C>TCA513694127SCARF2c.2505G>A (p.Glu835=)
c.2517G>A (p.Glu839=)
c.2520G>A (p.Glu840=)
gnomAD v4
22g.20425472T>ACA410737899SCARF2c.2504A>T (p.Glu835Val)
c.2516A>T (p.Glu839Val)
c.2519A>T (p.Glu840Val)
gnomAD v4
22g.20425472T>CCA410737900SCARF2c.2504A>G (p.Glu835Gly)
c.2516A>G (p.Glu839Gly)
c.2519A>G (p.Glu840Gly)
dbSNP gnomAD v2 gnomAD v4
22g.20425472T>GCA410737901SCARF2c.2504A>C (p.Glu835Ala)
c.2516A>C (p.Glu839Ala)
c.2519A>C (p.Glu840Ala)
gnomAD v4
22g.20425472T=CA2396362454SCARF2c.2504A= (p.Glu835=)
c.2516A= (p.Glu839=)
c.2519A= (p.Glu840=)
22g.20425473delCA2655397094SCARF2c.2503del (p.Glu835ArgfsTer?)
c.2515del (p.Glu839ArgfsTer?)
c.2518del (p.Glu840ArgfsTer?)
gnomAD v4
22g.20425473C>ACA410737904SCARF2c.2503G>T (p.Glu835Ter)
c.2515G>T (p.Glu839Ter)
c.2518G>T (p.Glu840Ter)
gnomAD v4
22g.20425473C>GCA410737905SCARF2c.2503G>C (p.Glu835Gln)
c.2515G>C (p.Glu839Gln)
c.2518G>C (p.Glu840Gln)
gnomAD v4
22g.20425473C>TCA410737907SCARF2c.2503G>A (p.Glu835Lys)
c.2515G>A (p.Glu839Lys)
c.2518G>A (p.Glu840Lys)
gnomAD v4
22g.20425474A>CCA513694131SCARF2c.2502T>G (p.Pro834=)
c.2514T>G (p.Pro838=)
c.2517T>G (p.Pro839=)
22g.20425474A>GCA513694130SCARF2c.2502T>C (p.Pro834=)
c.2514T>C (p.Pro838=)
c.2517T>C (p.Pro839=)
gnomAD v4
22g.20425474A>TCA513694128SCARF2c.2502T>A (p.Pro834=)
c.2514T>A (p.Pro838=)
c.2517T>A (p.Pro839=)
gnomAD v4
22g.20425475G>ACA410737915SCARF2c.2501C>T (p.Pro834Leu)
c.2513C>T (p.Pro838Leu)
c.2516C>T (p.Pro839Leu)
gnomAD v4
22g.20425475G>CCA410737918SCARF2c.2501C>G (p.Pro834Arg)
c.2513C>G (p.Pro838Arg)
c.2516C>G (p.Pro839Arg)
22g.20425475G>TCA410737912SCARF2c.2501C>A (p.Pro834His)
c.2513C>A (p.Pro838His)
c.2516C>A (p.Pro839His)
gnomAD v4
22g.20425476G>ACA410737922SCARF2c.2500C>T (p.Pro834Ser)
c.2512C>T (p.Pro838Ser)
c.2515C>T (p.Pro839Ser)
gnomAD v4
22g.20425476G>CCA410737926SCARF2c.2500C>G (p.Pro834Ala)
c.2512C>G (p.Pro838Ala)
c.2515C>G (p.Pro839Ala)
22g.20425476G>TCA410737929SCARF2c.2500C>A (p.Pro834Thr)
c.2512C>A (p.Pro838Thr)
c.2515C>A (p.Pro839Thr)
gnomAD v4
22g.20425477C>ACA513694136SCARF2c.2499G>T (p.Ala833=)
c.2511G>T (p.Ala837=)
c.2514G>T (p.Ala838=)
dbSNP gnomAD v4
22g.20425477C=CA2396362455SCARF2c.2499G= (p.Ala833=)
c.2511G= (p.Ala837=)
c.2514G= (p.Ala838=)
22g.20425477C>GCA513694137SCARF2c.2499G>C (p.Ala833=)
c.2511G>C (p.Ala837=)
c.2514G>C (p.Ala838=)
gnomAD v4
22g.20425477C>TCA513694135SCARF2c.2499G>A (p.Ala833=)
c.2511G>A (p.Ala837=)
c.2514G>A (p.Ala838=)
dbSNP gnomAD v2 gnomAD v4
22g.20425478delCA2655397096SCARF2c.2498del (p.Ala833GlyfsTer?)
c.2510del (p.Ala837GlyfsTer?)
c.2513del (p.Ala838GlyfsTer?)
gnomAD v4
22g.20425478G>ACA410737934SCARF2c.2498C>T (p.Ala833Val)
c.2510C>T (p.Ala837Val)
c.2513C>T (p.Ala838Val)
gnomAD v4
22g.20425478G>CCA10112154SCARF2c.2498C>G (p.Ala833Gly)
c.2510C>G (p.Ala837Gly)
c.2513C>G (p.Ala838Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425478G=CA2396362456SCARF2c.2498C= (p.Ala833=)
c.2510C= (p.Ala837=)
c.2513C= (p.Ala838=)
22g.20425478G>TCA410737939SCARF2c.2498C>A (p.Ala833Glu)
c.2510C>A (p.Ala837Glu)
c.2513C>A (p.Ala838Glu)
gnomAD v4
22g.20425478_20425493delCA2818417612SCARF2c.2483_2498del (p.Ala828GlyfsTer?)
c.2495_2510del (p.Ala832GlyfsTer?)
c.2498_2513del (p.Ala833GlyfsTer?)
22g.20425479C>ACA410737943SCARF2c.2497G>T (p.Ala833Ser)
c.2509G>T (p.Ala837Ser)
c.2512G>T (p.Ala838Ser)
gnomAD v4
22g.20425479C=CA2396362457SCARF2c.2497G= (p.Ala833=)
c.2509G= (p.Ala837=)
c.2512G= (p.Ala838=)
22g.20425479C>GCA10112155SCARF2c.2497G>C (p.Ala833Pro)
c.2509G>C (p.Ala837Pro)
c.2512G>C (p.Ala838Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425479C>TCA410737946SCARF2c.2497G>A (p.Ala833Thr)
c.2509G>A (p.Ala837Thr)
c.2512G>A (p.Ala838Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425480G>ACA10112156SCARF2c.2496C>T (p.Pro832=)
c.2508C>T (p.Pro836=)
c.2511C>T (p.Pro837=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425480G>CCA513694141SCARF2c.2496C>G (p.Pro832=)
c.2508C>G (p.Pro836=)
c.2511C>G (p.Pro837=)
gnomAD v4
22g.20425480G=CA2396362458SCARF2c.2496C= (p.Pro832=)
c.2508C= (p.Pro836=)
c.2511C= (p.Pro837=)
22g.20425480G>TCA513694140SCARF2c.2496C>A (p.Pro832=)
c.2508C>A (p.Pro836=)
c.2511C>A (p.Pro837=)
dbSNP gnomAD v2 gnomAD v4
22g.20425481G>ACA410737953SCARF2c.2495C>T (p.Pro832Leu)
c.2507C>T (p.Pro836Leu)
c.2510C>T (p.Pro837Leu)
dbSNP gnomAD v4
22g.20425481G>CCA410737956SCARF2c.2495C>G (p.Pro832Arg)
c.2507C>G (p.Pro836Arg)
c.2510C>G (p.Pro837Arg)
gnomAD v4
22g.20425481G=CA2396362459SCARF2c.2495C= (p.Pro832=)
c.2507C= (p.Pro836=)
c.2510C= (p.Pro837=)
22g.20425481G>TCA410737958SCARF2c.2495C>A (p.Pro832His)
c.2507C>A (p.Pro836His)
c.2510C>A (p.Pro837His)
gnomAD v4
22g.20425482G>ACA410737962SCARF2c.2494C>T (p.Pro832Ser)
c.2506C>T (p.Pro836Ser)
c.2509C>T (p.Pro837Ser)
gnomAD v4
22g.20425482G>CCA410737967SCARF2c.2494C>G (p.Pro832Ala)
c.2506C>G (p.Pro836Ala)
c.2509C>G (p.Pro837Ala)
gnomAD v4
22g.20425482G=CA2396362460SCARF2c.2494C= (p.Pro832=)
c.2506C= (p.Pro836=)
c.2509C= (p.Pro837=)
22g.20425482G>TCA410737965SCARF2c.2494C>A (p.Pro832Thr)
c.2506C>A (p.Pro836Thr)
c.2509C>A (p.Pro837Thr)
dbSNP gnomAD v4
22g.20425482_20425483insACA2577652135SCARF2c.2493_2494insT (p.Pro832SerfsTer4)
c.2505_2506insT (p.Pro836SerfsTer4)
c.2508_2509insT (p.Pro837SerfsTer4)
22g.20425483C>ACA410737973SCARF2c.2493G>T (p.Leu831Phe)
c.2505G>T (p.Leu835Phe)
c.2508G>T (p.Leu836Phe)
dbSNP gnomAD v2 gnomAD v4
22g.20425483C=CA2396362461SCARF2c.2493G= (p.Leu831=)
c.2505G= (p.Leu835=)
c.2508G= (p.Leu836=)
22g.20425483C>GCA410737976SCARF2c.2493G>C (p.Leu831Phe)
c.2505G>C (p.Leu835Phe)
c.2508G>C (p.Leu836Phe)
gnomAD v4
22g.20425483C>TCA513694143SCARF2c.2493G>A (p.Leu831=)
c.2505G>A (p.Leu835=)
c.2508G>A (p.Leu836=)
gnomAD v4
22g.20425484A>CCA410737979SCARF2c.2492T>G (p.Leu831Trp)
c.2504T>G (p.Leu835Trp)
c.2507T>G (p.Leu836Trp)
gnomAD v4
22g.20425484A>GCA410737981SCARF2c.2492T>C (p.Leu831Ser)
c.2504T>C (p.Leu835Ser)
c.2507T>C (p.Leu836Ser)
gnomAD v4
22g.20425484A>TCA410737983SCARF2c.2492T>A (p.Leu831Ter)
c.2504T>A (p.Leu835Ter)
c.2507T>A (p.Leu836Ter)
22g.20425485delCA2655397099SCARF2c.2492del (p.Leu831CysfsTer?)
c.2504del (p.Leu835CysfsTer?)
c.2507del (p.Leu836CysfsTer?)
gnomAD v4
22g.20425485A=CA2396362462SCARF2c.2491T= (p.Leu831=)
c.2503T= (p.Leu835=)
c.2506T= (p.Leu836=)
22g.20425485A>CCA410737985SCARF2c.2491T>G (p.Leu831Val)
c.2503T>G (p.Leu835Val)
c.2506T>G (p.Leu836Val)
gnomAD v4
22g.20425485A>GCA513694144SCARF2c.2491T>C (p.Leu831=)
c.2503T>C (p.Leu835=)
c.2506T>C (p.Leu836=)
dbSNP gnomAD v4
22g.20425485A>TCA410737987SCARF2c.2491T>A (p.Leu831Met)
c.2503T>A (p.Leu835Met)
c.2506T>A (p.Leu836Met)
gnomAD v4
22g.20425486G>ACA513694146SCARF2c.2490C>T (p.Asp830=)
c.2502C>T (p.Asp834=)
c.2505C>T (p.Asp835=)
dbSNP gnomAD v3 gnomAD v4
22g.20425486G>CCA322181942SCARF2c.2490C>G (p.Asp830Glu)
c.2502C>G (p.Asp834Glu)
c.2505C>G (p.Asp835Glu)
dbSNP gnomAD v4
22g.20425486G=CA2396362463SCARF2c.2490C= (p.Asp830=)
c.2502C= (p.Asp834=)
c.2505C= (p.Asp835=)
22g.20425486G>TCA410737993SCARF2c.2490C>A (p.Asp830Glu)
c.2502C>A (p.Asp834Glu)
c.2505C>A (p.Asp835Glu)
gnomAD v4
22g.20425487_20425513delCA2655397101SCARF2c.2464_2490del (p.Pro822_Asp830del)
c.2476_2502del (p.Pro826_Asp834del)
c.2479_2505del (p.Pro827_Asp835del)
gnomAD v4
22g.20425487T>ACA410737997SCARF2c.2489A>T (p.Asp830Val)
c.2501A>T (p.Asp834Val)
c.2504A>T (p.Asp835Val)
gnomAD v4
22g.20425487T>CCA410737999SCARF2c.2489A>G (p.Asp830Gly)
c.2501A>G (p.Asp834Gly)
c.2504A>G (p.Asp835Gly)
gnomAD v4
22g.20425487T>GCA410738003SCARF2c.2489A>C (p.Asp830Ala)
c.2501A>C (p.Asp834Ala)
c.2504A>C (p.Asp835Ala)
gnomAD v4
22g.20425495_20425524delCA2655397102SCARF2c.2460_2489del (p.Glu820_Thr829del)
c.2472_2501del (p.Glu824_Thr833del)
c.2475_2504del (p.Glu825_Thr834del)
gnomAD v4
22g.20425488C>ACA410738006SCARF2c.2488G>T (p.Asp830Tyr)
c.2500G>T (p.Asp834Tyr)
c.2503G>T (p.Asp835Tyr)
gnomAD v4
22g.20425488C=CA2396362464SCARF2c.2488G= (p.Asp830=)
c.2500G= (p.Asp834=)
c.2503G= (p.Asp835=)
22g.20425488C>GCA410738009SCARF2c.2488G>C (p.Asp830His)
c.2500G>C (p.Asp834His)
c.2503G>C (p.Asp835His)
gnomAD v4
22g.20425488C>TCA10112157SCARF2c.2488G>A (p.Asp830Asn)
c.2500G>A (p.Asp834Asn)
c.2503G>A (p.Asp835Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425489G>ACA513694149SCARF2c.2487C>T (p.Thr829=)
c.2499C>T (p.Thr833=)
c.2502C>T (p.Thr834=)
dbSNP gnomAD v2 gnomAD v4
22g.20425489G>CCA513694148SCARF2c.2487C>G (p.Thr829=)
c.2499C>G (p.Thr833=)
c.2502C>G (p.Thr834=)
22g.20425489G=CA2396362465SCARF2c.2487C= (p.Thr829=)
c.2499C= (p.Thr833=)
c.2502C= (p.Thr834=)
22g.20425489G>TCA513694147SCARF2c.2487C>A (p.Thr829=)
c.2499C>A (p.Thr833=)
c.2502C>A (p.Thr834=)
gnomAD v4
22g.20425490G>ACA410738014SCARF2c.2486C>T (p.Thr829Ile)
c.2498C>T (p.Thr833Ile)
c.2501C>T (p.Thr834Ile)
gnomAD v4
22g.20425490G>CCA410738018SCARF2c.2486C>G (p.Thr829Ser)
c.2498C>G (p.Thr833Ser)
c.2501C>G (p.Thr834Ser)
22g.20425490G>TCA410738017SCARF2c.2486C>A (p.Thr829Asn)
c.2498C>A (p.Thr833Asn)
c.2501C>A (p.Thr834Asn)
gnomAD v4
22g.20425491T>ACA410738023SCARF2c.2485A>T (p.Thr829Ser)
c.2497A>T (p.Thr833Ser)
c.2500A>T (p.Thr834Ser)
gnomAD v4
22g.20425491T>CCA410738025SCARF2c.2485A>G (p.Thr829Ala)
c.2497A>G (p.Thr833Ala)
c.2500A>G (p.Thr834Ala)
gnomAD v4
22g.20425491T>GCA410738028SCARF2c.2485A>C (p.Thr829Pro)
c.2497A>C (p.Thr833Pro)
c.2500A>C (p.Thr834Pro)
22g.20425492C>ACA513694155SCARF2c.2484G>T (p.Ala828=)
c.2496G>T (p.Ala832=)
c.2499G>T (p.Ala833=)
dbSNP gnomAD v4
22g.20425492C=CA2396362466SCARF2c.2484G= (p.Ala828=)
c.2496G= (p.Ala832=)
c.2499G= (p.Ala833=)
22g.20425492C>GCA513694153SCARF2c.2484G>C (p.Ala828=)
c.2496G>C (p.Ala832=)
c.2499G>C (p.Ala833=)
22g.20425492C>TCA513694154SCARF2c.2484G>A (p.Ala828=)
c.2496G>A (p.Ala832=)
c.2499G>A (p.Ala833=)
gnomAD v4
22g.20425496_20425498delCA2655397103SCARF2c.2482_2484del (p.Ala828del)
c.2494_2496del (p.Ala832del)
c.2497_2499del (p.Ala833del)
gnomAD v4
22g.20425493G>ACA410738032SCARF2c.2483C>T (p.Ala828Val)
c.2495C>T (p.Ala832Val)
c.2498C>T (p.Ala833Val)
gnomAD v4
22g.20425493G>CCA410738034SCARF2c.2483C>G (p.Ala828Gly)
c.2495C>G (p.Ala832Gly)
c.2498C>G (p.Ala833Gly)
gnomAD v4
22g.20425493G=CA2396362467SCARF2c.2483C= (p.Ala828=)
c.2495C= (p.Ala832=)
c.2498C= (p.Ala833=)
22g.20425493G>TCA10112158SCARF2c.2483C>A (p.Ala828Glu)
c.2495C>A (p.Ala832Glu)
c.2498C>A (p.Ala833Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425494C>ACA410738041SCARF2c.2482G>T (p.Ala828Ser)
c.2494G>T (p.Ala832Ser)
c.2497G>T (p.Ala833Ser)
gnomAD v4
22g.20425494C=CA2396362468SCARF2c.2482G= (p.Ala828=)
c.2494G= (p.Ala832=)
c.2497G= (p.Ala833=)
22g.20425494C>GCA410738045SCARF2c.2482G>C (p.Ala828Pro)
c.2494G>C (p.Ala832Pro)
c.2497G>C (p.Ala833Pro)
22g.20425494C>TCA410738047SCARF2c.2482G>A (p.Ala828Thr)
c.2494G>A (p.Ala832Thr)
c.2497G>A (p.Ala833Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425495C>ACA513694158SCARF2c.2481G>T (p.Ala827=)
c.2493G>T (p.Ala831=)
c.2496G>T (p.Ala832=)
gnomAD v4
22g.20425495C=CA2396362469SCARF2c.2481G= (p.Ala827=)
c.2493G= (p.Ala831=)
c.2496G= (p.Ala832=)
22g.20425495C>GCA513694157SCARF2c.2481G>C (p.Ala827=)
c.2493G>C (p.Ala831=)
c.2496G>C (p.Ala832=)
gnomAD v4
22g.20425495C>TCA10112159SCARF2c.2481G>A (p.Ala827=)
c.2493G>A (p.Ala831=)
c.2496G>A (p.Ala832=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425496G>ACA410738061SCARF2c.2480C>T (p.Ala827Val)
c.2492C>T (p.Ala831Val)
c.2495C>T (p.Ala832Val)
gnomAD v4
22g.20425496G>CCA410738057SCARF2c.2480C>G (p.Ala827Gly)
c.2492C>G (p.Ala831Gly)
c.2495C>G (p.Ala832Gly)
gnomAD v4
22g.20425496G>TCA410738053SCARF2c.2480C>A (p.Ala827Glu)
c.2492C>A (p.Ala831Glu)
c.2495C>A (p.Ala832Glu)
gnomAD v4
22g.20425497C>ACA410738064SCARF2c.2479G>T (p.Ala827Ser)
c.2491G>T (p.Ala831Ser)
c.2494G>T (p.Ala832Ser)
gnomAD v4
22g.20425497C>GCA410738068SCARF2c.2479G>C (p.Ala827Pro)
c.2491G>C (p.Ala831Pro)
c.2494G>C (p.Ala832Pro)
gnomAD v4
22g.20425497C>TCA410738070SCARF2c.2479G>A (p.Ala827Thr)
c.2491G>A (p.Ala831Thr)
c.2494G>A (p.Ala832Thr)
gnomAD v4
22g.20425497_20425510delCA2818417613SCARF2c.2466_2479del (p.Pro824AspfsTer7)
c.2478_2491del (p.Pro828AspfsTer7)
c.2481_2494del (p.Pro829AspfsTer7)
22g.20425498C>ACA410738073SCARF2c.2478G>T (p.Lys826Asn)
c.2490G>T (p.Lys830Asn)
c.2493G>T (p.Lys831Asn)
gnomAD v4
22g.20425498C=CA2396362470SCARF2c.2478G= (p.Lys826=)
c.2490G= (p.Lys830=)
c.2493G= (p.Lys831=)
22g.20425498C>GCA410738076SCARF2c.2478G>C (p.Lys826Asn)
c.2490G>C (p.Lys830Asn)
c.2493G>C (p.Lys831Asn)
22g.20425498C>TCA513694160SCARF2c.2478G>A (p.Lys826=)
c.2490G>A (p.Lys830=)
c.2493G>A (p.Lys831=)
dbSNP gnomAD v3 gnomAD v4
22g.20425499T>ACA410738079SCARF2c.2477A>T (p.Lys826Met)
c.2489A>T (p.Lys830Met)
c.2492A>T (p.Lys831Met)
gnomAD v4
22g.20425499T>CCA410738082SCARF2c.2477A>G (p.Lys826Arg)
c.2489A>G (p.Lys830Arg)
c.2492A>G (p.Lys831Arg)
gnomAD v4
22g.20425499T>GCA410738083SCARF2c.2477A>C (p.Lys826Thr)
c.2489A>C (p.Lys830Thr)
c.2492A>C (p.Lys831Thr)
gnomAD v4
22g.20425500delCA2655397104SCARF2c.2477del (p.Lys826ArgfsTer?)
c.2489del (p.Lys830ArgfsTer?)
c.2492del (p.Lys831ArgfsTer?)
gnomAD v4
22g.20425500T>ACA410738087SCARF2c.2476A>T (p.Lys826Ter)
c.2488A>T (p.Lys830Ter)
c.2491A>T (p.Lys831Ter)
22g.20425500T>CCA410738090SCARF2c.2476A>G (p.Lys826Glu)
c.2488A>G (p.Lys830Glu)
c.2491A>G (p.Lys831Glu)
gnomAD v4
22g.20425500T>GCA410738093SCARF2c.2476A>C (p.Lys826Gln)
c.2488A>C (p.Lys830Gln)
c.2491A>C (p.Lys831Gln)
gnomAD v4
22g.20425501C>ACA10112160SCARF2c.2475G>T (p.Glu825Asp)
c.2487G>T (p.Glu829Asp)
c.2490G>T (p.Glu830Asp)
dbSNP ExAC gnomAD v4
22g.20425501C=CA2396362471SCARF2c.2475G= (p.Glu825=)
c.2487G= (p.Glu829=)
c.2490G= (p.Glu830=)
22g.20425501C>GCA410738096SCARF2c.2475G>C (p.Glu825Asp)
c.2487G>C (p.Glu829Asp)
c.2490G>C (p.Glu830Asp)
gnomAD v4
22g.20425501C>TCA513694162SCARF2c.2475G>A (p.Glu825=)
c.2487G>A (p.Glu829=)
c.2490G>A (p.Glu830=)
gnomAD v4
22g.20425502T>ACA10112161SCARF2c.2474A>T (p.Glu825Val)
c.2486A>T (p.Glu829Val)
c.2489A>T (p.Glu830Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425502T>CCA10112162SCARF2c.2474A>G (p.Glu825Gly)
c.2486A>G (p.Glu829Gly)
c.2489A>G (p.Glu830Gly)
dbSNP ExAC gnomAD v4
22g.20425502T>GCA410738099SCARF2c.2474A>C (p.Glu825Ala)
c.2486A>C (p.Glu829Ala)
c.2489A>C (p.Glu830Ala)
gnomAD v4
22g.20425502T=CA2396362472SCARF2c.2474A= (p.Glu825=)
c.2486A= (p.Glu829=)
c.2489A= (p.Glu830=)
22g.20425503C>ACA410738102SCARF2c.2473G>T (p.Glu825Ter)
c.2485G>T (p.Glu829Ter)
c.2488G>T (p.Glu830Ter)
gnomAD v4
22g.20425503C=CA2396362473SCARF2c.2473G= (p.Glu825=)
c.2485G= (p.Glu829=)
c.2488G= (p.Glu830=)
22g.20425503C>GCA410738103SCARF2c.2473G>C (p.Glu825Gln)
c.2485G>C (p.Glu829Gln)
c.2488G>C (p.Glu830Gln)
22g.20425503C>TCA10112163SCARF2c.2473G>A (p.Glu825Lys)
c.2485G>A (p.Glu829Lys)
c.2488G>A (p.Glu830Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425504A=CA2396362474SCARF2c.2472T= (p.Pro824=)
c.2484T= (p.Pro828=)
c.2487T= (p.Pro829=)
22g.20425504A>CCA513694164SCARF2c.2472T>G (p.Pro824=)
c.2484T>G (p.Pro828=)
c.2487T>G (p.Pro829=)
gnomAD v4
22g.20425504A>GCA513694165SCARF2c.2472T>C (p.Pro824=)
c.2484T>C (p.Pro828=)
c.2487T>C (p.Pro829=)
dbSNP gnomAD v2 gnomAD v4
22g.20425504A>TCA513694166SCARF2c.2472T>A (p.Pro824=)
c.2484T>A (p.Pro828=)
c.2487T>A (p.Pro829=)
gnomAD v4
22g.20425505G>ACA410738106SCARF2c.2471C>T (p.Pro824Leu)
c.2483C>T (p.Pro828Leu)
c.2486C>T (p.Pro829Leu)
gnomAD v4
22g.20425505G>CCA410738110SCARF2c.2471C>G (p.Pro824Arg)
c.2483C>G (p.Pro828Arg)
c.2486C>G (p.Pro829Arg)
22g.20425505G>TCA410738112SCARF2c.2471C>A (p.Pro824His)
c.2483C>A (p.Pro828His)
c.2486C>A (p.Pro829His)
gnomAD v4
22g.20425506G>ACA410738116SCARF2c.2470C>T (p.Pro824Ser)
c.2482C>T (p.Pro828Ser)
c.2485C>T (p.Pro829Ser)
dbSNP gnomAD v4
22g.20425506G>CCA410738117SCARF2c.2470C>G (p.Pro824Ala)
c.2482C>G (p.Pro828Ala)
c.2485C>G (p.Pro829Ala)
gnomAD v4
22g.20425506G=CA2396362475SCARF2c.2470C= (p.Pro824=)
c.2482C= (p.Pro828=)
c.2485C= (p.Pro829=)
22g.20425506G>TCA410738118SCARF2c.2470C>A (p.Pro824Thr)
c.2482C>A (p.Pro828Thr)
c.2485C>A (p.Pro829Thr)
gnomAD v4
22g.20425507C>ACA10112165SCARF2c.2469G>T (p.Gly823=)
c.2481G>T (p.Gly827=)
c.2484G>T (p.Gly828=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425507C=CA2396362476SCARF2c.2469G= (p.Gly823=)
c.2481G= (p.Gly827=)
c.2484G= (p.Gly828=)
22g.20425507C>GCA513694168SCARF2c.2469G>C (p.Gly823=)
c.2481G>C (p.Gly827=)
c.2484G>C (p.Gly828=)
gnomAD v4
22g.20425507C>TCA10112164SCARF2c.2469G>A (p.Gly823=)
c.2481G>A (p.Gly827=)
c.2484G>A (p.Gly828=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425510delCA2655397106SCARF2c.2469del (p.Pro824LeufsTer?)
c.2481del (p.Pro828LeufsTer?)
c.2484del (p.Pro829LeufsTer?)
gnomAD v4
22g.20425508C>ACA410738133SCARF2c.2468G>T (p.Gly823Val)
c.2480G>T (p.Gly827Val)
c.2483G>T (p.Gly828Val)
gnomAD v4
22g.20425508C>GCA410738131SCARF2c.2468G>C (p.Gly823Ala)
c.2480G>C (p.Gly827Ala)
c.2483G>C (p.Gly828Ala)
gnomAD v4
22g.20425508C>TCA410738128SCARF2c.2468G>A (p.Gly823Glu)
c.2480G>A (p.Gly827Glu)
c.2483G>A (p.Gly828Glu)
dbSNP gnomAD v4
22g.20425509C>ACA410738136SCARF2c.2467G>T (p.Gly823Trp)
c.2479G>T (p.Gly827Trp)
c.2482G>T (p.Gly828Trp)
gnomAD v4
22g.20425509C>GCA410738141SCARF2c.2467G>C (p.Gly823Arg)
c.2479G>C (p.Gly827Arg)
c.2482G>C (p.Gly828Arg)
22g.20425509C>TCA410738138SCARF2c.2467G>A (p.Gly823Arg)
c.2479G>A (p.Gly827Arg)
c.2482G>A (p.Gly828Arg)
gnomAD v4
22g.20425510C>ACA513694171SCARF2c.2466G>T (p.Pro822=)
c.2478G>T (p.Pro826=)
c.2481G>T (p.Pro827=)
dbSNP gnomAD v4
22g.20425510C=CA2396362477SCARF2c.2466G= (p.Pro822=)
c.2478G= (p.Pro826=)
c.2481G= (p.Pro827=)
22g.20425510C>GCA513694170SCARF2c.2466G>C (p.Pro822=)
c.2478G>C (p.Pro826=)
c.2481G>C (p.Pro827=)
gnomAD v4
22g.20425510C>TCA513694172SCARF2c.2466G>A (p.Pro822=)
c.2478G>A (p.Pro826=)
c.2481G>A (p.Pro827=)
dbSNP gnomAD v2 gnomAD v4
22g.20425511G>ACA410738144SCARF2c.2465C>T (p.Pro822Leu)
c.2477C>T (p.Pro826Leu)
c.2480C>T (p.Pro827Leu)
dbSNP gnomAD v3 gnomAD v4
22g.20425511G>CCA410738149SCARF2c.2465C>G (p.Pro822Arg)
c.2477C>G (p.Pro826Arg)
c.2480C>G (p.Pro827Arg)
gnomAD v4
22g.20425511G=CA2396362478SCARF2c.2465C= (p.Pro822=)
c.2477C= (p.Pro826=)
c.2480C= (p.Pro827=)
22g.20425511G>TCA410738147SCARF2c.2465C>A (p.Pro822Gln)
c.2477C>A (p.Pro826Gln)
c.2480C>A (p.Pro827Gln)
gnomAD v4
22g.20425514delCA2655397108SCARF2c.2465del (p.Pro822ArgfsTer?)
c.2477del (p.Pro826ArgfsTer?)
c.2480del (p.Pro827ArgfsTer?)
gnomAD v4
22g.20425512G>ACA410738152SCARF2c.2464C>T (p.Pro822Ser)
c.2476C>T (p.Pro826Ser)
c.2479C>T (p.Pro827Ser)
gnomAD v4
22g.20425512G>CCA410738154SCARF2c.2464C>G (p.Pro822Ala)
c.2476C>G (p.Pro826Ala)
c.2479C>G (p.Pro827Ala)
gnomAD v4
22g.20425512G>TCA410738153SCARF2c.2464C>A (p.Pro822Thr)
c.2476C>A (p.Pro826Thr)
c.2479C>A (p.Pro827Thr)
gnomAD v4
22g.20425513G>ACA10112166SCARF2c.2463C>T (p.Thr821=)
c.2475C>T (p.Thr825=)
c.2478C>T (p.Thr826=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425513G>CCA513694173SCARF2c.2463C>G (p.Thr821=)
c.2475C>G (p.Thr825=)
c.2478C>G (p.Thr826=)
22g.20425513G=CA2396362479SCARF2c.2463C= (p.Thr821=)
c.2475C= (p.Thr825=)
c.2478C= (p.Thr826=)
22g.20425513G>TCA513694174SCARF2c.2463C>A (p.Thr821=)
c.2475C>A (p.Thr825=)
c.2478C>A (p.Thr826=)
dbSNP gnomAD v4
22g.20425514G>ACA410738157SCARF2c.2462C>T (p.Thr821Ile)
c.2474C>T (p.Thr825Ile)
c.2477C>T (p.Thr826Ile)
gnomAD v4
22g.20425514G>CCA410738159SCARF2c.2462C>G (p.Thr821Ser)
c.2474C>G (p.Thr825Ser)
c.2477C>G (p.Thr826Ser)
dbSNP gnomAD v3 gnomAD v4
22g.20425514G=CA2396362480SCARF2c.2462C= (p.Thr821=)
c.2474C= (p.Thr825=)
c.2477C= (p.Thr826=)
22g.20425514G>TCA410738166SCARF2c.2462C>A (p.Thr821Asn)
c.2474C>A (p.Thr825Asn)
c.2477C>A (p.Thr826Asn)
gnomAD v4
22g.20425515T>ACA410738176SCARF2c.2461A>T (p.Thr821Ser)
c.2473A>T (p.Thr825Ser)
c.2476A>T (p.Thr826Ser)
22g.20425515T>CCA410738178SCARF2c.2461A>G (p.Thr821Ala)
c.2473A>G (p.Thr825Ala)
c.2476A>G (p.Thr826Ala)
gnomAD v4
22g.20425515T>GCA410738181SCARF2c.2461A>C (p.Thr821Pro)
c.2473A>C (p.Thr825Pro)
c.2476A>C (p.Thr826Pro)
gnomAD v3 gnomAD v4
22g.20425517delCA2655397111SCARF2c.2461del (p.Thr821ProfsTer?)
c.2473del (p.Thr825ProfsTer?)
c.2476del (p.Thr826ProfsTer?)
gnomAD v4
22g.20425516T>ACA410738184SCARF2c.2460A>T (p.Glu820Asp)
c.2472A>T (p.Glu824Asp)
c.2475A>T (p.Glu825Asp)
22g.20425516T>CCA513694176SCARF2c.2460A>G (p.Glu820=)
c.2472A>G (p.Glu824=)
c.2475A>G (p.Glu825=)
gnomAD v4
22g.20425516T>GCA410738187SCARF2c.2460A>C (p.Glu820Asp)
c.2472A>C (p.Glu824Asp)
c.2475A>C (p.Glu825Asp)
gnomAD v3 gnomAD v4
22g.20425517T>ACA410738192SCARF2c.2459A>T (p.Glu820Val)
c.2471A>T (p.Glu824Val)
c.2474A>T (p.Glu825Val)
22g.20425517T>CCA410738196SCARF2c.2459A>G (p.Glu820Gly)
c.2471A>G (p.Glu824Gly)
c.2474A>G (p.Glu825Gly)
gnomAD v4
22g.20425517T>GCA410738199SCARF2c.2459A>C (p.Glu820Ala)
c.2471A>C (p.Glu824Ala)
c.2474A>C (p.Glu825Ala)
22g.20425518C>ACA410738203SCARF2c.2458G>T (p.Glu820Ter)
c.2470G>T (p.Glu824Ter)
c.2473G>T (p.Glu825Ter)
gnomAD v4
22g.20425518C=CA2396362481SCARF2c.2458G= (p.Glu820=)
c.2470G= (p.Glu824=)
c.2473G= (p.Glu825=)
22g.20425518C>GCA410738207SCARF2c.2458G>C (p.Glu820Gln)
c.2470G>C (p.Glu824Gln)
c.2473G>C (p.Glu825Gln)
gnomAD v4
22g.20425518C>TCA410738205SCARF2c.2458G>A (p.Glu820Lys)
c.2470G>A (p.Glu824Lys)
c.2473G>A (p.Glu825Lys)
dbSNP gnomAD v4
22g.20425519G>ACA10112167SCARF2c.2457C>T (p.Thr819=)
c.2469C>T (p.Thr823=)
c.2472C>T (p.Thr824=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425519G>CCA10112168SCARF2c.2457C>G (p.Thr819=)
c.2469C>G (p.Thr823=)
c.2472C>G (p.Thr824=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425519G=CA2396362482SCARF2c.2457C= (p.Thr819=)
c.2469C= (p.Thr823=)
c.2472C= (p.Thr824=)
22g.20425519G>TCA513694180SCARF2c.2457C>A (p.Thr819=)
c.2469C>A (p.Thr823=)
c.2472C>A (p.Thr824=)
gnomAD v4
22g.20425520G>ACA410738216SCARF2c.2456C>T (p.Thr819Ile)
c.2468C>T (p.Thr823Ile)
c.2471C>T (p.Thr824Ile)
gnomAD v4
22g.20425520G>CCA410738219SCARF2c.2456C>G (p.Thr819Ser)
c.2468C>G (p.Thr823Ser)
c.2471C>G (p.Thr824Ser)
gnomAD v4
22g.20425520G>TCA410738220SCARF2c.2456C>A (p.Thr819Asn)
c.2468C>A (p.Thr823Asn)
c.2471C>A (p.Thr824Asn)
gnomAD v4
22g.20425521T>ACA410738221SCARF2c.2455A>T (p.Thr819Ser)
c.2467A>T (p.Thr823Ser)
c.2470A>T (p.Thr824Ser)
gnomAD v4
22g.20425521T>CCA410738222SCARF2c.2455A>G (p.Thr819Ala)
c.2467A>G (p.Thr823Ala)
c.2470A>G (p.Thr824Ala)
gnomAD v4
22g.20425521T>GCA410738224SCARF2c.2455A>C (p.Thr819Pro)
c.2467A>C (p.Thr823Pro)
c.2470A>C (p.Thr824Pro)
22g.20425522C>ACA322182013SCARF2c.2454G>T (p.Ala818=)
c.2466G>T (p.Ala822=)
c.2469G>T (p.Ala823=)
dbSNP gnomAD v3 gnomAD v4
22g.20425522C=CA2396362483SCARF2c.2454G= (p.Ala818=)
c.2466G= (p.Ala822=)
c.2469G= (p.Ala823=)
22g.20425522C>GCA513694182SCARF2c.2454G>C (p.Ala818=)
c.2466G>C (p.Ala822=)
c.2469G>C (p.Ala823=)
22g.20425522C>TCA10112169SCARF2c.2454G>A (p.Ala818=)
c.2466G>A (p.Ala822=)
c.2469G>A (p.Ala823=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425523G>ACA410738228SCARF2c.2453C>T (p.Ala818Val)
c.2465C>T (p.Ala822Val)
c.2468C>T (p.Ala823Val)
dbSNP gnomAD v2 gnomAD v4
22g.20425523G>CCA322182021SCARF2c.2453C>G (p.Ala818Gly)
c.2465C>G (p.Ala822Gly)
c.2468C>G (p.Ala823Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425523G=CA2396362484SCARF2c.2453C= (p.Ala818=)
c.2465C= (p.Ala822=)
c.2468C= (p.Ala823=)
22g.20425523G>TCA410738226SCARF2c.2453C>A (p.Ala818Glu)
c.2465C>A (p.Ala822Glu)
c.2468C>A (p.Ala823Glu)
gnomAD v4
22g.20425524C>ACA410738234SCARF2c.2452G>T (p.Ala818Ser)
c.2464G>T (p.Ala822Ser)
c.2467G>T (p.Ala823Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425524C=CA2396362486SCARF2c.2452G= (p.Ala818=)
c.2464G= (p.Ala822=)
c.2467G= (p.Ala823=)
22g.20425524C>GCA410738236SCARF2c.2452G>C (p.Ala818Pro)
c.2464G>C (p.Ala822Pro)
c.2467G>C (p.Ala823Pro)
22g.20425524C>TCA410738238SCARF2c.2452G>A (p.Ala818Thr)
c.2464G>A (p.Ala822Thr)
c.2467G>A (p.Ala823Thr)
gnomAD v4
22g.20425524_20425575delinsCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTGCA2396362485SCARF2c.2401_2452delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln801=)
c.2413_2464delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln805=)
c.2416_2467delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln806=)
22g.20425525T>ACA513694186SCARF2c.2451A>T (p.Pro817=)
c.2463A>T (p.Pro821=)
c.2466A>T (p.Pro822=)
gnomAD v4
22g.20425525T>CCA513694185SCARF2c.2451A>G (p.Pro817=)
c.2463A>G (p.Pro821=)
c.2466A>G (p.Pro822=)
gnomAD v4
22g.20425525T>GCA513694184SCARF2c.2451A>C (p.Pro817=)
c.2463A>C (p.Pro821=)
c.2466A>C (p.Pro822=)
gnomAD v3 gnomAD v4
22g.20425525_20425526delinsTGCA2396362487SCARF2c.2450_2451delinsCA (p.Pro817=)
c.2462_2463delinsCA (p.Pro821=)
c.2465_2466delinsCA (p.Pro822=)
22g.20425534_20425584delCA638940757SCARF2c.2401_2451del (p.Gln801_Pro817del)
c.2413_2463del (p.Gln805_Pro821del)
c.2416_2466del (p.Gln806_Pro822del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425526G>ACA410738240SCARF2c.2450C>T (p.Pro817Leu)
c.2462C>T (p.Pro821Leu)
c.2465C>T (p.Pro822Leu)
gnomAD v4
22g.20425526G>CCA410738242SCARF2c.2450C>G (p.Pro817Arg)
c.2462C>G (p.Pro821Arg)
c.2465C>G (p.Pro822Arg)
22g.20425526G=CA2396362488SCARF2c.2450C= (p.Pro817=)
c.2462C= (p.Pro821=)
c.2465C= (p.Pro822=)
22g.20425526G>TCA10112170SCARF2c.2450C>A (p.Pro817Gln)
c.2462C>A (p.Pro821Gln)
c.2465C>A (p.Pro822Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425530dupCA638940759SCARF2c.2450dup (p.Ala818SerfsTer8)
c.2462dup (p.Ala822SerfsTer8)
c.2465dup (p.Ala823SerfsTer8)
gnomAD v2 gnomAD v4
22g.20425530delCA638940758SCARF2c.2450del (p.Pro817GlnfsTer?)
c.2462del (p.Pro821GlnfsTer?)
c.2465del (p.Pro822GlnfsTer?)
dbSNP gnomAD v2 gnomAD v4
22g.20425527G>ACA410738250SCARF2c.2449C>T (p.Pro817Ser)
c.2461C>T (p.Pro821Ser)
c.2464C>T (p.Pro822Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425527G>CCA410738251SCARF2c.2449C>G (p.Pro817Ala)
c.2461C>G (p.Pro821Ala)
c.2464C>G (p.Pro822Ala)
gnomAD v4
22g.20425527G=CA2396362489SCARF2c.2449C= (p.Pro817=)
c.2461C= (p.Pro821=)
c.2464C= (p.Pro822=)
22g.20425527G>TCA410738254SCARF2c.2449C>A (p.Pro817Thr)
c.2461C>A (p.Pro821Thr)
c.2464C>A (p.Pro822Thr)
gnomAD v4
22g.20425528G>ACA322182036SCARF2c.2448C>T (p.Pro816=)
c.2460C>T (p.Pro820=)
c.2463C>T (p.Pro821=)
dbSNP gnomAD v2 gnomAD v4
22g.20425528G>CCA513694189SCARF2c.2448C>G (p.Pro816=)
c.2460C>G (p.Pro820=)
c.2463C>G (p.Pro821=)
22g.20425528G=CA2396362490SCARF2c.2448C= (p.Pro816=)
c.2460C= (p.Pro820=)
c.2463C= (p.Pro821=)
22g.20425528G>TCA513694188SCARF2c.2448C>A (p.Pro816=)
c.2460C>A (p.Pro820=)
c.2463C>A (p.Pro821=)
gnomAD v4
22g.20425533_20425540delCA2655397112SCARF2c.2441_2448del (p.Arg814ProfsTer9)
c.2453_2460del (p.Arg818ProfsTer9)
c.2456_2463del (p.Arg819ProfsTer9)
gnomAD v4
22g.20425529G>ACA410738257SCARF2c.2447C>T (p.Pro816Leu)
c.2459C>T (p.Pro820Leu)
c.2462C>T (p.Pro821Leu)
dbSNP gnomAD v2 gnomAD v4
22g.20425529G>CCA410738258SCARF2c.2447C>G (p.Pro816Arg)
c.2459C>G (p.Pro820Arg)
c.2462C>G (p.Pro821Arg)
22g.20425529G=CA2396362491SCARF2c.2447C= (p.Pro816=)
c.2459C= (p.Pro820=)
c.2462C= (p.Pro821=)
22g.20425529G>TCA410738260SCARF2c.2447C>A (p.Pro816His)
c.2459C>A (p.Pro820His)
c.2462C>A (p.Pro821His)
dbSNP gnomAD v2 gnomAD v4
22g.20425530G>ACA10112171SCARF2c.2446C>T (p.Pro816Ser)
c.2458C>T (p.Pro820Ser)
c.2461C>T (p.Pro821Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20425530G>CCA410738263SCARF2c.2446C>G (p.Pro816Ala)
c.2458C>G (p.Pro820Ala)
c.2461C>G (p.Pro821Ala)
22g.20425530G=CA2396362492SCARF2c.2446C= (p.Pro816=)
c.2458C= (p.Pro820=)
c.2461C= (p.Pro821=)
22g.20425530G>TCA410738264SCARF2c.2446C>A (p.Pro816Thr)
c.2458C>A (p.Pro820Thr)
c.2461C>A (p.Pro821Thr)
dbSNP gnomAD v2 gnomAD v4
22g.20425531_20425532insCCGCCA2655397114SCARF2c.2446_2447insGGGC (p.Pro816ArgfsTer11)
c.2458_2459insGGGC (p.Pro820ArgfsTer11)
c.2461_2462insGGGC (p.Pro821ArgfsTer11)
gnomAD v4
22g.20425531C>ACA513694362SCARF2c.2445G>T (p.Ala815=)
c.2457G>T (p.Ala819=)
c.2460G>T (p.Ala820=)
dbSNP gnomAD v2 gnomAD v4
22g.20425531C=CA2396362493SCARF2c.2445G= (p.Ala815=)
c.2457G= (p.Ala819=)
c.2460G= (p.Ala820=)
22g.20425531C>GCA513694366SCARF2c.2445G>C (p.Ala815=)
c.2457G>C (p.Ala819=)
c.2460G>C (p.Ala820=)
gnomAD v4
22g.20425531C>TCA513694367SCARF2c.2445G>A (p.Ala815=)
c.2457G>A (p.Ala819=)
c.2460G>A (p.Ala820=)
gnomAD v4
22g.20425532G>ACA410738268SCARF2c.2444C>T (p.Ala815Val)
c.2456C>T (p.Ala819Val)
c.2459C>T (p.Ala820Val)
gnomAD v4
22g.20425532G>CCA10112172SCARF2c.2444C>G (p.Ala815Gly)
c.2456C>G (p.Ala819Gly)
c.2459C>G (p.Ala820Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425532G=CA2396362494SCARF2c.2444C= (p.Ala815=)
c.2456C= (p.Ala819=)
c.2459C= (p.Ala820=)
22g.20425532G>TCA10112173SCARF2c.2444C>A (p.Ala815Glu)
c.2456C>A (p.Ala819Glu)
c.2459C>A (p.Ala820Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20425533C>ACA410738273SCARF2c.2443G>T (p.Ala815Ser)
c.2455G>T (p.Ala819Ser)
c.2458G>T (p.Ala820Ser)
dbSNP gnomAD v2 gnomAD v4
22g.20425533C=CA2396362495SCARF2c.2443G= (p.Ala815=)
c.2455G= (p.Ala819=)
c.2458G= (p.Ala820=)
22g.20425533C>GCA410738274SCARF2c.2443G>C (p.Ala815Pro)
c.2455G>C (p.Ala819Pro)
c.2458G>C (p.Ala820Pro)
22g.20425533C>TCA410738276SCARF2c.2443G>A (p.Ala815Thr)
c.2455G>A (p.Ala819Thr)
c.2458G>A (p.Ala820Thr)
dbSNP gnomAD v3 gnomAD v4
22g.20425534G>ACA513694378SCARF2c.2442C>T (p.Arg814=)
c.2454C>T (p.Arg818=)
c.2457C>T (p.Arg819=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20425534G>CCA513694381SCARF2c.2442C>G (p.Arg814=)
c.2454C>G (p.Arg818=)
c.2457C>G (p.Arg819=)
gnomAD v4
22g.20425534G=CA2396362496SCARF2c.2442C= (p.Arg814=)
c.2454C= (p.Arg818=)
c.2457C= (p.Arg819=)
22g.20425534G>TCA513694383SCARF2c.2442C>A (p.Arg814=)
c.2454C>A (p.Arg818=)
c.2457C>A (p.Arg819=)
dbSNP gnomAD v4
22g.20425541_20425544delCA2655397115SCARF2c.2439_2442del (p.Ala815ProfsTer?)
c.2451_2454del (p.Ala819ProfsTer?)
c.2454_2457del (p.Ala820ProfsTer?)
gnomAD v4
22g.20425535C>ACA410738278SCARF2c.2441G>T (p.Arg814Leu)
c.2453G>T (p.Arg818Leu)
c.2456G>T (p.Arg819Leu)
gnomAD v4
22g.20425535C=CA2396362497SCARF2c.2441G= (p.Arg814=)
c.2453G= (p.Arg818=)
c.2456G= (p.Arg819=)
22g.20425535C>GCA410738280SCARF2c.2441G>C (p.Arg814Pro)
c.2453G>C (p.Arg818Pro)
c.2456G>C (p.Arg819Pro)
gnomAD v4
22g.20425535C>TCA410738281SCARF2c.2441G>A (p.Arg814His)
c.2453G>A (p.Arg818His)
c.2456G>A (p.Arg819His)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched