Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91313241_91313282delinsTGCTATCGTCCAAGACTGCATCCTTGAGCTCCACCTGCTGCCCA2154878511CCDC88Cc.2534_2575delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA (p.Trp845=)
c.2426_2467delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA (p.Trp809=)
n.2662_2703delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA
n.2660_2701delinsGGCAGCAGGTGGAGCTCAAGGATGCAGTCTTGGACGATAGCA
14g.91313242_91313282delCA616112454CCDC88Cc.2534_2574del (p.Trp845TyrfsTer8)
c.2426_2466del (p.Trp809TyrfsTer8)
n.2662_2702del
n.2660_2700del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91313270_91313272dupCA2626130601CCDC88Cc.2545_2547dup (p.Glu849_Leu850insGlu)
c.2437_2439dup (p.Glu813_Leu814insGlu)
n.2673_2675dup
n.2671_2673dup
 gnomAD v4
14g.91313270T>ACA390629816CCDC88Cc.2546A>T (p.Glu849Val)
c.2438A>T (p.Glu813Val)
n.2674A>T
n.2672A>T
14g.91313270T>CCA390629817CCDC88Cc.2546A>G (p.Glu849Gly)
c.2438A>G (p.Glu813Gly)
n.2674A>G
n.2672A>G
14g.91313270T>GCA390629818CCDC88Cc.2546A>C (p.Glu849Ala)
c.2438A>C (p.Glu813Ala)
n.2674A>C
n.2672A>C
14g.91313271C>ACA390629819CCDC88Cc.2545G>T (p.Glu849Ter)
c.2437G>T (p.Glu813Ter)
n.2673G>T
n.2671G>T
14g.91313271C>GCA390629820CCDC88Cc.2545G>C (p.Glu849Gln)
c.2437G>C (p.Glu813Gln)
n.2673G>C
n.2671G>C
14g.91313271C>TCA390629821CCDC88Cc.2545G>A (p.Glu849Lys)
c.2437G>A (p.Glu813Lys)
n.2673G>A
n.2671G>A
14g.91313272C>ACA487550535CCDC88Cc.2544G>T (p.Val848=)
c.2436G>T (p.Val812=)
n.2672G>T
n.2670G>T
14g.91313272C>GCA487550536CCDC88Cc.2544G>C (p.Val848=)
c.2436G>C (p.Val812=)
n.2672G>C
n.2670G>C
14g.91313272C>TCA487550537CCDC88Cc.2544G>A (p.Val848=)
c.2436G>A (p.Val812=)
n.2672G>A
n.2670G>A
 gnomAD v4
14g.91313273A=CA2154878571CCDC88Cc.2543T= (p.Val848=)
c.2435T= (p.Val812=)
n.2671T=
n.2669T=
14g.91313273A>CCA7309623CCDC88Cc.2543T>G (p.Val848Gly)
c.2435T>G (p.Val812Gly)
n.2671T>G
n.2669T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91313273A>GCA390629822CCDC88Cc.2543T>C (p.Val848Ala)
c.2435T>C (p.Val812Ala)
n.2671T>C
n.2669T>C
 gnomAD v4
14g.91313273A>TCA390629823CCDC88Cc.2543T>A (p.Val848Glu)
c.2435T>A (p.Val812Glu)
n.2671T>A
n.2669T>A
14g.91313273_91313282delinsACCTGCTGCCCA2154878572CCDC88Cc.2534_2543delinsGGCAGCAGGT (p.Trp845=)
c.2426_2435delinsGGCAGCAGGT (p.Trp809=)
n.2662_2671delinsGGCAGCAGGT
n.2660_2669delinsGGCAGCAGGT
14g.91313274C>ACA390629824CCDC88Cc.2542G>T (p.Val848Leu)
c.2434G>T (p.Val812Leu)
n.2670G>T
n.2668G>T
14g.91313274C=CA2154878577CCDC88Cc.2542G= (p.Val848=)
c.2434G= (p.Val812=)
n.2670G=
n.2668G=
14g.91313274C>GCA390629825CCDC88Cc.2542G>C (p.Val848Leu)
c.2434G>C (p.Val812Leu)
n.2670G>C
n.2668G>C
14g.91313274C>TCA390629826CCDC88Cc.2542G>A (p.Val848Met)
c.2434G>A (p.Val812Met)
n.2670G>A
n.2668G>A
 dbSNP gnomAD v2 gnomAD v4
14g.91313274_91313282delCA7309624CCDC88Cc.2534_2542del (p.Trp845_Val848delinsLeu)
c.2426_2434del (p.Trp809_Val812delinsLeu)
n.2662_2670del
n.2660_2668del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91313275C>ACA390629827CCDC88Cc.2541G>T (p.Gln847His)
c.2433G>T (p.Gln811His)
n.2669G>T
n.2667G>T
14g.91313275C>GCA390629828CCDC88Cc.2541G>C (p.Gln847His)
c.2433G>C (p.Gln811His)
n.2669G>C
n.2667G>C
14g.91313275C>TCA487550538CCDC88Cc.2541G>A (p.Gln847=)
c.2433G>A (p.Gln811=)
n.2669G>A
n.2667G>A
14g.91313276T>ACA390629829CCDC88Cc.2540A>T (p.Gln847Leu)
c.2432A>T (p.Gln811Leu)
n.2668A>T
n.2666A>T
14g.91313276T>CCA390629830CCDC88Cc.2540A>G (p.Gln847Arg)
c.2432A>G (p.Gln811Arg)
n.2668A>G
n.2666A>G
14g.91313276T>GCA390629831CCDC88Cc.2540A>C (p.Gln847Pro)
c.2432A>C (p.Gln811Pro)
n.2668A>C
n.2666A>C
14g.91313277G>ACA390629834CCDC88Cc.2539C>T (p.Gln847Ter)
c.2431C>T (p.Gln811Ter)
n.2667C>T
n.2665C>T
 dbSNP
14g.91313277G>CCA390629832CCDC88Cc.2539C>G (p.Gln847Glu)
c.2431C>G (p.Gln811Glu)
n.2667C>G
n.2665C>G
14g.91313277G=CA2154878580CCDC88Cc.2539C= (p.Gln847=)
c.2431C= (p.Gln811=)
n.2667C=
n.2665C=
14g.91313277G>TCA390629833CCDC88Cc.2539C>A (p.Gln847Lys)
c.2431C>A (p.Gln811Lys)
n.2667C>A
n.2665C>A
14g.91313278C>ACA390629835CCDC88Cc.2538G>T (p.Gln846His)
c.2430G>T (p.Gln810His)
n.2666G>T
n.2664G>T
14g.91313278C=CA2154878581CCDC88Cc.2538G= (p.Gln846=)
c.2430G= (p.Gln810=)
n.2666G=
n.2664G=
14g.91313278C>GCA390629836CCDC88Cc.2538G>C (p.Gln846His)
c.2430G>C (p.Gln810His)
n.2666G>C
n.2664G>C
14g.91313278C>TCA487550542CCDC88Cc.2538G>A (p.Gln846=)
c.2430G>A (p.Gln810=)
n.2666G>A
n.2664G>A
 dbSNP
14g.91313279T>ACA390629837CCDC88Cc.2537A>T (p.Gln846Leu)
c.2429A>T (p.Gln810Leu)
n.2665A>T
n.2663A>T
14g.91313279T>CCA390629838CCDC88Cc.2537A>G (p.Gln846Arg)
c.2429A>G (p.Gln810Arg)
n.2665A>G
n.2663A>G
14g.91313279T>GCA390629839CCDC88Cc.2537A>C (p.Gln846Pro)
c.2429A>C (p.Gln810Pro)
n.2665A>C
n.2663A>C
14g.91313280G>ACA390629842CCDC88Cc.2536C>T (p.Gln846Ter)
c.2428C>T (p.Gln810Ter)
n.2664C>T
n.2662C>T
14g.91313280G>CCA390629840CCDC88Cc.2536C>G (p.Gln846Glu)
c.2428C>G (p.Gln810Glu)
n.2664C>G
n.2662C>G
14g.91313280G>TCA390629841CCDC88Cc.2536C>A (p.Gln846Lys)
c.2428C>A (p.Gln810Lys)
n.2664C>A
n.2662C>A
14g.91313281C>ACA390629843CCDC88Cc.2535G>T (p.Trp845Cys)
c.2427G>T (p.Trp809Cys)
n.2663G>T
n.2661G>T
 gnomAD v4
14g.91313281C>GCA390629844CCDC88Cc.2535G>C (p.Trp845Cys)
c.2427G>C (p.Trp809Cys)
n.2663G>C
n.2661G>C
14g.91313281C>TCA390629845CCDC88Cc.2535G>A (p.Trp845Ter)
c.2427G>A (p.Trp809Ter)
n.2663G>A
n.2661G>A
14g.91313282C>ACA390629846CCDC88Cc.2534G>T (p.Trp845Leu)
c.2426G>T (p.Trp809Leu)
n.2662G>T
n.2660G>T
 dbSNP gnomAD v2 gnomAD v4
14g.91313282C=CA2154878583CCDC88Cc.2534G= (p.Trp845=)
c.2426G= (p.Trp809=)
n.2662G=
n.2660G=
14g.91313282C>GCA390629847CCDC88Cc.2534G>C (p.Trp845Ser)
c.2426G>C (p.Trp809Ser)
n.2662G>C
n.2660G>C
14g.91313282C>TCA390629848CCDC88Cc.2534G>A (p.Trp845Ter)
c.2426G>A (p.Trp809Ter)
n.2662G>A
n.2660G>A
 gnomAD v4
14g.91313283A=CA2154878586CCDC88Cc.2533T= (p.Trp845=)
c.2425T= (p.Trp809=)
n.2661T=
n.2659T=

Number of alleles fetched