Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26477250C>ACA346122275OTOFc.2445G>T (p.Gln815His)
c.204G>T (p.Gln68His)
c.375G>T (p.Gln125His)
c.2490G>T (p.Gln830His)
2g.26477250C=CA1239829750OTOFc.2445G= (p.Gln815=)
c.204G= (p.Gln68=)
c.375G= (p.Gln125=)
c.2490G= (p.Gln830=)
2g.26477250C>GCA346122278OTOFc.2445G>C (p.Gln815His)
c.204G>C (p.Gln68His)
c.375G>C (p.Gln125His)
c.2490G>C (p.Gln830His)
2g.26477250C>TCA1563897OTOFc.2445G>A (p.Gln815=)
c.204G>A (p.Gln68=)
c.375G>A (p.Gln125=)
c.2490G>A (p.Gln830=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477250_26477251delCA2576699500OTOFc.2444_2445del (p.Gln815ArgfsTer?)
c.203_204del (p.Gln68ArgfsTer?)
c.374_375del (p.Gln125ArgfsTer?)
c.2489_2490del (p.Gln830ArgfsTer?)
 gnomAD v4
2g.26477251T>ACA346122282OTOFc.2444A>T (p.Gln815Leu)
c.203A>T (p.Gln68Leu)
c.374A>T (p.Gln125Leu)
c.2489A>T (p.Gln830Leu)
2g.26477251T>CCA346122283OTOFc.2444A>G (p.Gln815Arg)
c.203A>G (p.Gln68Arg)
c.374A>G (p.Gln125Arg)
c.2489A>G (p.Gln830Arg)
 gnomAD v4
2g.26477251T>GCA346122286OTOFc.2444A>C (p.Gln815Pro)
c.203A>C (p.Gln68Pro)
c.374A>C (p.Gln125Pro)
c.2489A>C (p.Gln830Pro)
2g.26477251_26477252delinsTGCA1239829753OTOFc.2443_2444delinsCA (p.Gln815=)
c.202_203delinsCA (p.Gln68=)
c.373_374delinsCA (p.Gln125=)
c.2488_2489delinsCA (p.Gln830=)
2g.26477252G>ACA346122291OTOFc.2443C>T (p.Gln815Ter)
c.202C>T (p.Gln68Ter)
c.373C>T (p.Gln125Ter)
c.2488C>T (p.Gln830Ter)
2g.26477252G>CCA346122288OTOFc.2443C>G (p.Gln815Glu)
c.202C>G (p.Gln68Glu)
c.373C>G (p.Gln125Glu)
c.2488C>G (p.Gln830Glu)
2g.26477252G>TCA346122289OTOFc.2443C>A (p.Gln815Lys)
c.202C>A (p.Gln68Lys)
c.373C>A (p.Gln125Lys)
c.2488C>A (p.Gln830Lys)
 gnomAD v4
2g.26477254delCA913189627OTOFc.2443del (p.Gln815ArgfsTer2)
c.202del (p.Gln68ArgfsTer2)
c.373del (p.Gln125ArgfsTer2)
c.2488del (p.Gln830ArgfsTer2)
 ClinVar dbSNP
2g.26477253G>ACA425359940OTOFc.2442C>T (p.Ala814=)
c.201C>T (p.Ala67=)
c.372C>T (p.Ala124=)
c.2487C>T (p.Ala829=)
 dbSNP gnomAD v2 gnomAD v4
2g.26477253G>CCA425359941OTOFc.2442C>G (p.Ala814=)
c.201C>G (p.Ala67=)
c.372C>G (p.Ala124=)
c.2487C>G (p.Ala829=)
2g.26477253G=CA1239829761OTOFc.2442C= (p.Ala814=)
c.201C= (p.Ala67=)
c.372C= (p.Ala124=)
c.2487C= (p.Ala829=)
2g.26477253G>TCA425359942OTOFc.2442C>A (p.Ala814=)
c.201C>A (p.Ala67=)
c.372C>A (p.Ala124=)
c.2487C>A (p.Ala829=)
2g.26477257_26477271delCA645517907OTOFc.2428_2442del (p.Arg810_Ala814del)
c.187_201del (p.Arg63_Ala67del)
c.358_372del (p.Arg120_Ala124del)
c.2473_2487del (p.Arg825_Ala829del)
 COSMIC COSMIC COSMIC
2g.26477254G>ACA346122299OTOFc.2441C>T (p.Ala814Val)
c.200C>T (p.Ala67Val)
c.371C>T (p.Ala124Val)
c.2486C>T (p.Ala829Val)
2g.26477254G>CCA346122300OTOFc.2441C>G (p.Ala814Gly)
c.200C>G (p.Ala67Gly)
c.371C>G (p.Ala124Gly)
c.2486C>G (p.Ala829Gly)
2g.26477254G>TCA346122303OTOFc.2441C>A (p.Ala814Asp)
c.200C>A (p.Ala67Asp)
c.371C>A (p.Ala124Asp)
c.2486C>A (p.Ala829Asp)
 gnomAD v4
2g.26477255C>ACA346122310OTOFc.2440G>T (p.Ala814Ser)
c.199G>T (p.Ala67Ser)
c.370G>T (p.Ala124Ser)
c.2485G>T (p.Ala829Ser)
2g.26477255C=CA1239829766OTOFc.2440G= (p.Ala814=)
c.199G= (p.Ala67=)
c.370G= (p.Ala124=)
c.2485G= (p.Ala829=)
2g.26477255C>GCA346122317OTOFc.2440G>C (p.Ala814Pro)
c.199G>C (p.Ala67Pro)
c.370G>C (p.Ala124Pro)
c.2485G>C (p.Ala829Pro)
2g.26477255C>TCA346122329OTOFc.2440G>A (p.Ala814Thr)
c.199G>A (p.Ala67Thr)
c.370G>A (p.Ala124Thr)
c.2485G>A (p.Ala829Thr)
 dbSNP gnomAD v4
2g.26477256C>ACA425359946OTOFc.2439G>T (p.Arg813=)
c.198G>T (p.Arg66=)
c.369G>T (p.Arg123=)
c.2484G>T (p.Arg828=)
2g.26477256C>GCA425359948OTOFc.2439G>C (p.Arg813=)
c.198G>C (p.Arg66=)
c.369G>C (p.Arg123=)
c.2484G>C (p.Arg828=)
2g.26477256C>TCA425359945OTOFc.2439G>A (p.Arg813=)
c.198G>A (p.Arg66=)
c.369G>A (p.Arg123=)
c.2484G>A (p.Arg828=)
 gnomAD v4
2g.26477257C>ACA346122344OTOFc.2438G>T (p.Arg813Leu)
c.197G>T (p.Arg66Leu)
c.368G>T (p.Arg123Leu)
c.2483G>T (p.Arg828Leu)
 gnomAD v4
2g.26477257C=CA1239829769OTOFc.2438G= (p.Arg813=)
c.197G= (p.Arg66=)
c.368G= (p.Arg123=)
c.2483G= (p.Arg828=)
2g.26477257C>GCA346122348OTOFc.2438G>C (p.Arg813Pro)
c.197G>C (p.Arg66Pro)
c.368G>C (p.Arg123Pro)
c.2483G>C (p.Arg828Pro)
2g.26477257C>TCA1563898OTOFc.2438G>A (p.Arg813Gln)
c.197G>A (p.Arg66Gln)
c.368G>A (p.Arg123Gln)
c.2483G>A (p.Arg828Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477258G>ACA1563899OTOFc.2437C>T (p.Arg813Trp)
c.196C>T (p.Arg66Trp)
c.367C>T (p.Arg123Trp)
c.2482C>T (p.Arg828Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477258G>CCA346122356OTOFc.2437C>G (p.Arg813Gly)
c.196C>G (p.Arg66Gly)
c.367C>G (p.Arg123Gly)
c.2482C>G (p.Arg828Gly)
2g.26477258G=CA1239829772OTOFc.2437C= (p.Arg813=)
c.196C= (p.Arg66=)
c.367C= (p.Arg123=)
c.2482C= (p.Arg828=)
2g.26477258G>TCA425359950OTOFc.2437C>A (p.Arg813=)
c.196C>A (p.Arg66=)
c.367C>A (p.Arg123=)
c.2482C>A (p.Arg828=)
2g.26477259C>ACA425359951OTOFc.2436G>T (p.Leu812=)
c.195G>T (p.Leu65=)
c.366G>T (p.Leu122=)
c.2481G>T (p.Leu827=)
2g.26477259C>GCA425359952OTOFc.2436G>C (p.Leu812=)
c.195G>C (p.Leu65=)
c.366G>C (p.Leu122=)
c.2481G>C (p.Leu827=)
2g.26477259C>TCA425359953OTOFc.2436G>A (p.Leu812=)
c.195G>A (p.Leu65=)
c.366G>A (p.Leu122=)
c.2481G>A (p.Leu827=)
 ClinVar dbSNP
2g.26477260A>CCA346122394OTOFc.2435T>G (p.Leu812Arg)
c.194T>G (p.Leu65Arg)
c.365T>G (p.Leu122Arg)
c.2480T>G (p.Leu827Arg)
2g.26477260A>GCA346122399OTOFc.2435T>C (p.Leu812Pro)
c.194T>C (p.Leu65Pro)
c.365T>C (p.Leu122Pro)
c.2480T>C (p.Leu827Pro)
2g.26477260A>TCA346122373OTOFc.2435T>A (p.Leu812Gln)
c.194T>A (p.Leu65Gln)
c.365T>A (p.Leu122Gln)
c.2480T>A (p.Leu827Gln)
2g.26477261G>ACA425359957OTOFc.2434C>T (p.Leu812=)
c.193C>T (p.Leu65=)
c.364C>T (p.Leu122=)
c.2479C>T (p.Leu827=)
2g.26477261G>CCA346122405OTOFc.2434C>G (p.Leu812Val)
c.193C>G (p.Leu65Val)
c.364C>G (p.Leu122Val)
c.2479C>G (p.Leu827Val)
2g.26477261G>TCA346122406OTOFc.2434C>A (p.Leu812Met)
c.193C>A (p.Leu65Met)
c.364C>A (p.Leu122Met)
c.2479C>A (p.Leu827Met)
 gnomAD v4
2g.26477262C>ACA346122420OTOFc.2433G>T (p.Met811Ile)
c.192G>T (p.Met64Ile)
c.363G>T (p.Met121Ile)
c.2478G>T (p.Met826Ile)
2g.26477262C>GCA346122428OTOFc.2433G>C (p.Met811Ile)
c.192G>C (p.Met64Ile)
c.363G>C (p.Met121Ile)
c.2478G>C (p.Met826Ile)
2g.26477262C>TCA346122433OTOFc.2433G>A (p.Met811Ile)
c.192G>A (p.Met64Ile)
c.363G>A (p.Met121Ile)
c.2478G>A (p.Met826Ile)
2g.26477263A=CA1239829774OTOFc.2432T= (p.Met811=)
c.191T= (p.Met64=)
c.362T= (p.Met121=)
c.2477T= (p.Met826=)
2g.26477263A>CCA346122439OTOFc.2432T>G (p.Met811Arg)
c.191T>G (p.Met64Arg)
c.362T>G (p.Met121Arg)
c.2477T>G (p.Met826Arg)
2g.26477263A>GCA346122440OTOFc.2432T>C (p.Met811Thr)
c.191T>C (p.Met64Thr)
c.362T>C (p.Met121Thr)
c.2477T>C (p.Met826Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.26477263A>TCA346122441OTOFc.2432T>A (p.Met811Lys)
c.191T>A (p.Met64Lys)
c.362T>A (p.Met121Lys)
c.2477T>A (p.Met826Lys)
2g.26477264T>ACA346122445OTOFc.2431A>T (p.Met811Leu)
c.190A>T (p.Met64Leu)
c.361A>T (p.Met121Leu)
c.2476A>T (p.Met826Leu)
2g.26477264T>CCA346122453OTOFc.2431A>G (p.Met811Val)
c.190A>G (p.Met64Val)
c.361A>G (p.Met121Val)
c.2476A>G (p.Met826Val)
2g.26477264T>GCA346122455OTOFc.2431A>C (p.Met811Leu)
c.190A>C (p.Met64Leu)
c.361A>C (p.Met121Leu)
c.2476A>C (p.Met826Leu)
2g.26477265C>ACA346122458OTOFc.2430G>T (p.Arg810Ser)
c.189G>T (p.Arg63Ser)
c.360G>T (p.Arg120Ser)
c.2475G>T (p.Arg825Ser)
2g.26477265C>GCA346122460OTOFc.2430G>C (p.Arg810Ser)
c.189G>C (p.Arg63Ser)
c.360G>C (p.Arg120Ser)
c.2475G>C (p.Arg825Ser)
2g.26477265C>TCA425359962OTOFc.2430G>A (p.Arg810=)
c.189G>A (p.Arg63=)
c.360G>A (p.Arg120=)
c.2475G>A (p.Arg825=)
2g.26477266C>ACA346122491OTOFc.2429G>T (p.Arg810Met)
c.188G>T (p.Arg63Met)
c.359G>T (p.Arg120Met)
c.2474G>T (p.Arg825Met)
2g.26477266C=CA1239829776OTOFc.2429G= (p.Arg810=)
c.188G= (p.Arg63=)
c.359G= (p.Arg120=)
c.2474G= (p.Arg825=)
2g.26477266C>GCA44398340OTOFc.2429G>C (p.Arg810Thr)
c.188G>C (p.Arg63Thr)
c.359G>C (p.Arg120Thr)
c.2474G>C (p.Arg825Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26477266C>TCA346122471OTOFc.2429G>A (p.Arg810Lys)
c.188G>A (p.Arg63Lys)
c.359G>A (p.Arg120Lys)
c.2474G>A (p.Arg825Lys)
2g.26477267T>ACA346122495OTOFc.2428A>T (p.Arg810Trp)
c.187A>T (p.Arg63Trp)
c.358A>T (p.Arg120Trp)
c.2473A>T (p.Arg825Trp)
2g.26477267T>CCA346122496OTOFc.2428A>G (p.Arg810Gly)
c.187A>G (p.Arg63Gly)
c.358A>G (p.Arg120Gly)
c.2473A>G (p.Arg825Gly)
2g.26477267T>GCA425359964OTOFc.2428A>C (p.Arg810=)
c.187A>C (p.Arg63=)
c.358A>C (p.Arg120=)
c.2473A>C (p.Arg825=)
2g.26477268G>ACA425359965OTOFc.2427C>T (p.Ala809=)
c.186C>T (p.Ala62=)
c.357C>T (p.Ala119=)
c.2472C>T (p.Ala824=)
2g.26477268G>CCA425359967OTOFc.2427C>G (p.Ala809=)
c.186C>G (p.Ala62=)
c.357C>G (p.Ala119=)
c.2472C>G (p.Ala824=)
2g.26477268G>TCA425359966OTOFc.2427C>A (p.Ala809=)
c.186C>A (p.Ala62=)
c.357C>A (p.Ala119=)
c.2472C>A (p.Ala824=)
 gnomAD v4
2g.26477269G>ACA1563900OTOFc.2426C>T (p.Ala809Val)
c.185C>T (p.Ala62Val)
c.356C>T (p.Ala119Val)
c.2471C>T (p.Ala824Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477269G>CCA346122508OTOFc.2426C>G (p.Ala809Gly)
c.185C>G (p.Ala62Gly)
c.356C>G (p.Ala119Gly)
c.2471C>G (p.Ala824Gly)
2g.26477269G=CA1239829780OTOFc.2426C= (p.Ala809=)
c.185C= (p.Ala62=)
c.356C= (p.Ala119=)
c.2471C= (p.Ala824=)
2g.26477269G>TCA346122513OTOFc.2426C>A (p.Ala809Asp)
c.185C>A (p.Ala62Asp)
c.356C>A (p.Ala119Asp)
c.2471C>A (p.Ala824Asp)
 gnomAD v4
2g.26477270C>ACA346122516OTOFc.2425G>T (p.Ala809Ser)
c.184G>T (p.Ala62Ser)
c.355G>T (p.Ala119Ser)
c.2470G>T (p.Ala824Ser)
 gnomAD v4
2g.26477270C=CA1239829783OTOFc.2425G= (p.Ala809=)
c.184G= (p.Ala62=)
c.355G= (p.Ala119=)
c.2470G= (p.Ala824=)
2g.26477270C>GCA346122520OTOFc.2425G>C (p.Ala809Pro)
c.184G>C (p.Ala62Pro)
c.355G>C (p.Ala119Pro)
c.2470G>C (p.Ala824Pro)
2g.26477270C>TCA346122523OTOFc.2425G>A (p.Ala809Thr)
c.184G>A (p.Ala62Thr)
c.355G>A (p.Ala119Thr)
c.2470G>A (p.Ala824Thr)
 dbSNP
2g.26477271C>ACA346122535OTOFc.2424G>T (p.Gln808His)
c.183G>T (p.Gln61His)
c.354G>T (p.Gln118His)
c.2469G>T (p.Gln823His)
2g.26477271C>GCA346122542OTOFc.2424G>C (p.Gln808His)
c.183G>C (p.Gln61His)
c.354G>C (p.Gln118His)
c.2469G>C (p.Gln823His)
2g.26477271C>TCA425359968OTOFc.2424G>A (p.Gln808=)
c.183G>A (p.Gln61=)
c.354G>A (p.Gln118=)
c.2469G>A (p.Gln823=)
2g.26477272T>ACA346122550OTOFc.2423A>T (p.Gln808Leu)
c.182A>T (p.Gln61Leu)
c.353A>T (p.Gln118Leu)
c.2468A>T (p.Gln823Leu)
2g.26477272T>CCA346122561OTOFc.2423A>G (p.Gln808Arg)
c.182A>G (p.Gln61Arg)
c.353A>G (p.Gln118Arg)
c.2468A>G (p.Gln823Arg)
2g.26477272T>GCA346122563OTOFc.2423A>C (p.Gln808Pro)
c.182A>C (p.Gln61Pro)
c.353A>C (p.Gln118Pro)
c.2468A>C (p.Gln823Pro)
 gnomAD v4
2g.26477273G>ACA1563901OTOFc.2422C>T (p.Gln808Ter)
c.181C>T (p.Gln61Ter)
c.352C>T (p.Gln118Ter)
c.2467C>T (p.Gln823Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477273G>CCA346122571OTOFc.2422C>G (p.Gln808Glu)
c.181C>G (p.Gln61Glu)
c.352C>G (p.Gln118Glu)
c.2467C>G (p.Gln823Glu)
2g.26477273G=CA1239829786OTOFc.2422C= (p.Gln808=)
c.181C= (p.Gln61=)
c.352C= (p.Gln118=)
c.2467C= (p.Gln823=)
2g.26477273G>TCA346122566OTOFc.2422C>A (p.Gln808Lys)
c.181C>A (p.Gln61Lys)
c.352C>A (p.Gln118Lys)
c.2467C>A (p.Gln823Lys)
2g.26477274C>ACA346122582OTOFc.2421G>T (p.Gln807His)
c.180G>T (p.Gln60His)
c.351G>T (p.Gln117His)
c.2466G>T (p.Gln822His)
2g.26477274C>GCA346122585OTOFc.2421G>C (p.Gln807His)
c.180G>C (p.Gln60His)
c.351G>C (p.Gln117His)
c.2466G>C (p.Gln822His)
2g.26477274C>TCA425359970OTOFc.2421G>A (p.Gln807=)
c.180G>A (p.Gln60=)
c.351G>A (p.Gln117=)
c.2466G>A (p.Gln822=)
 gnomAD v4
2g.26477275T>ACA346122589OTOFc.2420A>T (p.Gln807Leu)
c.179A>T (p.Gln60Leu)
c.350A>T (p.Gln117Leu)
c.2465A>T (p.Gln822Leu)
2g.26477275T>CCA346122594OTOFc.2420A>G (p.Gln807Arg)
c.179A>G (p.Gln60Arg)
c.350A>G (p.Gln117Arg)
c.2465A>G (p.Gln822Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477275T>GCA346122600OTOFc.2420A>C (p.Gln807Pro)
c.179A>C (p.Gln60Pro)
c.350A>C (p.Gln117Pro)
c.2465A>C (p.Gln822Pro)
2g.26477275T=CA1239829790OTOFc.2420A= (p.Gln807=)
c.179A= (p.Gln60=)
c.350A= (p.Gln117=)
c.2465A= (p.Gln822=)
2g.26477276G>ACA346122605OTOFc.2419C>T (p.Gln807Ter)
c.178C>T (p.Gln60Ter)
c.349C>T (p.Gln117Ter)
c.2464C>T (p.Gln822Ter)
 dbSNP COSMIC COSMIC COSMIC
2g.26477276G>CCA346122611OTOFc.2419C>G (p.Gln807Glu)
c.178C>G (p.Gln60Glu)
c.349C>G (p.Gln117Glu)
c.2464C>G (p.Gln822Glu)
2g.26477276G=CA1239829794OTOFc.2419C= (p.Gln807=)
c.178C= (p.Gln60=)
c.349C= (p.Gln117=)
c.2464C= (p.Gln822=)
2g.26477276G>TCA1563902OTOFc.2419C>A (p.Gln807Lys)
c.178C>A (p.Gln60Lys)
c.349C>A (p.Gln117Lys)
c.2464C>A (p.Gln822Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477277C>ACA425359972OTOFc.2418G>T (p.Gly806=)
c.177G>T (p.Gly59=)
c.348G>T (p.Gly116=)
c.2463G>T (p.Gly821=)
2g.26477277C>GCA425359973OTOFc.2418G>C (p.Gly806=)
c.177G>C (p.Gly59=)
c.348G>C (p.Gly116=)
c.2463G>C (p.Gly821=)
2g.26477277C>TCA425359971OTOFc.2418G>A (p.Gly806=)
c.177G>A (p.Gly59=)
c.348G>A (p.Gly116=)
c.2463G>A (p.Gly821=)
 gnomAD v4
2g.26477280delCA2658237874OTOFc.2418del (p.Gln807SerfsTer10)
c.177del (p.Gln60SerfsTer10)
c.348del (p.Gln117SerfsTer10)
c.2463del (p.Gln822SerfsTer10)
 gnomAD v4
2g.26477278C>ACA346122622OTOFc.2417G>T (p.Gly806Val)
c.176G>T (p.Gly59Val)
c.347G>T (p.Gly116Val)
c.2462G>T (p.Gly821Val)
2g.26477278C>GCA346122627OTOFc.2417G>C (p.Gly806Ala)
c.176G>C (p.Gly59Ala)
c.347G>C (p.Gly116Ala)
c.2462G>C (p.Gly821Ala)
 gnomAD v4
2g.26477278C>TCA346122631OTOFc.2417G>A (p.Gly806Glu)
c.176G>A (p.Gly59Glu)
c.347G>A (p.Gly116Glu)
c.2462G>A (p.Gly821Glu)
2g.26477279C>ACA346122643OTOFc.2416G>T (p.Gly806Trp)
c.175G>T (p.Gly59Trp)
c.346G>T (p.Gly116Trp)
c.2461G>T (p.Gly821Trp)
 gnomAD v4
2g.26477279C>GCA346122648OTOFc.2416G>C (p.Gly806Arg)
c.175G>C (p.Gly59Arg)
c.346G>C (p.Gly116Arg)
c.2461G>C (p.Gly821Arg)
2g.26477279C>TCA346122649OTOFc.2416G>A (p.Gly806Arg)
c.175G>A (p.Gly59Arg)
c.346G>A (p.Gly116Arg)
c.2461G>A (p.Gly821Arg)
 gnomAD v4
2g.26477280C>ACA346122663OTOFc.2415G>T (p.Met805Ile)
c.174G>T (p.Met58Ile)
c.345G>T (p.Met115Ile)
c.2460G>T (p.Met820Ile)
2g.26477280C>GCA346122654OTOFc.2415G>C (p.Met805Ile)
c.174G>C (p.Met58Ile)
c.345G>C (p.Met115Ile)
c.2460G>C (p.Met820Ile)
2g.26477280C>TCA346122658OTOFc.2415G>A (p.Met805Ile)
c.174G>A (p.Met58Ile)
c.345G>A (p.Met115Ile)
c.2460G>A (p.Met820Ile)
2g.26477281A>CCA346122669OTOFc.2414T>G (p.Met805Arg)
c.173T>G (p.Met58Arg)
c.344T>G (p.Met115Arg)
c.2459T>G (p.Met820Arg)
 gnomAD v4
2g.26477281A>GCA346122681OTOFc.2414T>C (p.Met805Thr)
c.173T>C (p.Met58Thr)
c.344T>C (p.Met115Thr)
c.2459T>C (p.Met820Thr)
2g.26477281A>TCA346122683OTOFc.2414T>A (p.Met805Lys)
c.173T>A (p.Met58Lys)
c.344T>A (p.Met115Lys)
c.2459T>A (p.Met820Lys)
2g.26477282T>ACA346122699OTOFc.2413A>T (p.Met805Leu)
c.172A>T (p.Met58Leu)
c.343A>T (p.Met115Leu)
c.2458A>T (p.Met820Leu)
2g.26477282T>CCA346122703OTOFc.2413A>G (p.Met805Val)
c.172A>G (p.Met58Val)
c.343A>G (p.Met115Val)
c.2458A>G (p.Met820Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26477282T>GCA346122712OTOFc.2413A>C (p.Met805Leu)
c.172A>C (p.Met58Leu)
c.343A>C (p.Met115Leu)
c.2458A>C (p.Met820Leu)
2g.26477282T=CA1239829800OTOFc.2413A= (p.Met805=)
c.172A= (p.Met58=)
c.343A= (p.Met115=)
c.2458A= (p.Met820=)
2g.26477283G>ACA425359978OTOFc.2412C>T (p.Asn804=)
c.171C>T (p.Asn57=)
c.342C>T (p.Asn114=)
c.2457C>T (p.Asn819=)
2g.26477283G>CCA346122718OTOFc.2412C>G (p.Asn804Lys)
c.171C>G (p.Asn57Lys)
c.342C>G (p.Asn114Lys)
c.2457C>G (p.Asn819Lys)
2g.26477283G>TCA346122719OTOFc.2412C>A (p.Asn804Lys)
c.171C>A (p.Asn57Lys)
c.342C>A (p.Asn114Lys)
c.2457C>A (p.Asn819Lys)
 gnomAD v4
2g.26477284T>ACA346122722OTOFc.2411A>T (p.Asn804Ile)
c.170A>T (p.Asn57Ile)
c.341A>T (p.Asn114Ile)
c.2456A>T (p.Asn819Ile)
2g.26477284T>CCA346122723OTOFc.2411A>G (p.Asn804Ser)
c.170A>G (p.Asn57Ser)
c.341A>G (p.Asn114Ser)
c.2456A>G (p.Asn819Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26477284T>GCA346122729OTOFc.2411A>C (p.Asn804Thr)
c.170A>C (p.Asn57Thr)
c.341A>C (p.Asn114Thr)
c.2456A>C (p.Asn819Thr)
2g.26477284T=CA1239829805OTOFc.2411A= (p.Asn804=)
c.170A= (p.Asn57=)
c.341A= (p.Asn114=)
c.2456A= (p.Asn819=)
2g.26477287delCA2658237875OTOFc.2411del (p.Asn804ThrfsTer13)
c.170del (p.Asn57ThrfsTer13)
c.341del (p.Asn114ThrfsTer13)
c.2456del (p.Asn819ThrfsTer13)
 gnomAD v4
2g.26477285T>ACA346122734OTOFc.2410A>T (p.Asn804Tyr)
c.169A>T (p.Asn57Tyr)
c.340A>T (p.Asn114Tyr)
c.2455A>T (p.Asn819Tyr)
2g.26477285T>CCA346122741OTOFc.2410A>G (p.Asn804Asp)
c.169A>G (p.Asn57Asp)
c.340A>G (p.Asn114Asp)
c.2455A>G (p.Asn819Asp)
2g.26477285T>GCA346122733OTOFc.2410A>C (p.Asn804His)
c.169A>C (p.Asn57His)
c.340A>C (p.Asn114His)
c.2455A>C (p.Asn819His)
2g.26477286T>ACA346122748OTOFc.2409A>T (p.Glu803Asp)
c.168A>T (p.Glu56Asp)
c.339A>T (p.Glu113Asp)
c.2454A>T (p.Glu818Asp)
2g.26477286T>CCA425359986OTOFc.2409A>G (p.Glu803=)
c.168A>G (p.Glu56=)
c.339A>G (p.Glu113=)
c.2454A>G (p.Glu818=)
2g.26477286T>GCA346122750OTOFc.2409A>C (p.Glu803Asp)
c.168A>C (p.Glu56Asp)
c.339A>C (p.Glu113Asp)
c.2454A>C (p.Glu818Asp)
2g.26477287T>ACA346122756OTOFc.2408A>T (p.Glu803Val)
c.167A>T (p.Glu56Val)
c.338A>T (p.Glu113Val)
c.2453A>T (p.Glu818Val)
2g.26477287T>CCA346122759OTOFc.2408A>G (p.Glu803Gly)
c.167A>G (p.Glu56Gly)
c.338A>G (p.Glu113Gly)
c.2453A>G (p.Glu818Gly)
2g.26477287T>GCA346122761OTOFc.2408A>C (p.Glu803Ala)
c.167A>C (p.Glu56Ala)
c.338A>C (p.Glu113Ala)
c.2453A>C (p.Glu818Ala)
2g.26477288C>ACA346122765OTOFc.2407G>T (p.Glu803Ter)
c.166G>T (p.Glu56Ter)
c.337G>T (p.Glu113Ter)
c.2452G>T (p.Glu818Ter)
 gnomAD v4
2g.26477288C=CA1239829806OTOFc.2407G= (p.Glu803=)
c.166G= (p.Glu56=)
c.337G= (p.Glu113=)
c.2452G= (p.Glu818=)
2g.26477288C>GCA346122768OTOFc.2407G>C (p.Glu803Gln)
c.166G>C (p.Glu56Gln)
c.337G>C (p.Glu113Gln)
c.2452G>C (p.Glu818Gln)
 gnomAD v4
2g.26477288C>TCA1563903OTOFc.2407G>A (p.Glu803Lys)
c.166G>A (p.Glu56Lys)
c.337G>A (p.Glu113Lys)
c.2452G>A (p.Glu818Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477289C>ACA346122775OTOFc.2407-1G>T (n.2407-1G>T)
c.166-1G>T (n.166-1G>T)
c.337-1G>T (n.337-1G>T)
c.2452-1G>T (n.2452-1G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477289C=CA1239829808OTOFc.2407-1G= (n.2407-1G=)
c.166-1G= (n.166-1G=)
c.337-1G= (n.337-1G=)
c.2452-1G= (n.2452-1G=)
2g.26477289C>GCA346122780OTOFc.2407-1G>C (n.2407-1G>C)
c.166-1G>C (n.166-1G>C)
c.337-1G>C (n.337-1G>C)
c.2452-1G>C (n.2452-1G>C)
2g.26477289C>TCA346122786OTOFc.2407-1G>A (n.2407-1G>A)
c.166-1G>A (n.166-1G>A)
c.337-1G>A (n.337-1G>A)
c.2452-1G>A (n.2452-1G>A)
2g.26477290delCA2580066194OTOFc.2407-2del (n.2407-2del)
c.166-2del (n.166-2del)
c.337-2del (n.337-2del)
c.2452-2del (n.2452-2del)
 ClinVar
2g.26477290T>ACA346122793OTOFc.2407-2A>T (n.2407-2A>T)
c.166-2A>T (n.166-2A>T)
c.337-2A>T (n.337-2A>T)
c.2452-2A>T (n.2452-2A>T)
2g.26477290T>CCA346122794OTOFc.2407-2A>G (n.2407-2A>G)
c.166-2A>G (n.166-2A>G)
c.337-2A>G (n.337-2A>G)
c.2452-2A>G (n.2452-2A>G)
2g.26477290T>GCA346122795OTOFc.2407-2A>C (n.2407-2A>C)
c.166-2A>C (n.166-2A>C)
c.337-2A>C (n.337-2A>C)
c.2452-2A>C (n.2452-2A>C)
2g.26477291G>TCA2658237876OTOFc.2407-3C>A (n.2407-3C>A)
c.166-3C>A (n.166-3C>A)
c.337-3C>A (n.337-3C>A)
c.2452-3C>A (n.2452-3C>A)
 gnomAD v4
2g.26477292C>ACA1563905OTOFc.2407-4G>T (n.2407-4G>T)
c.166-4G>T (n.166-4G>T)
c.337-4G>T (n.337-4G>T)
c.2452-4G>T (n.2452-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477292C=CA1239829812OTOFc.2407-4G= (n.2407-4G=)
c.166-4G= (n.166-4G=)
c.337-4G= (n.337-4G=)
c.2452-4G= (n.2452-4G=)
2g.26477292C>TCA1563904OTOFc.2407-4G>A (n.2407-4G>A)
c.166-4G>A (n.166-4G>A)
c.337-4G>A (n.337-4G>A)
c.2452-4G>A (n.2452-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477292_26477304delinsCGAAGGAGGGGGTCA1239829813OTOFc.2407-16_2407-4delinsACCCCCTCCTTCG (n.2407-16_2407-4delinsACCCCCTCCTTCG)
c.166-16_166-4delinsACCCCCTCCTTCG (n.166-16_166-4delinsACCCCCTCCTTCG)
c.337-16_337-4delinsACCCCCTCCTTCG (n.337-16_337-4delinsACCCCCTCCTTCG)
c.2452-16_2452-4delinsACCCCCTCCTTCG (n.2452-16_2452-4delinsACCCCCTCCTTCG)
2g.26477292_26477306delinsCGAAGGAGGGGGTGTCA1239829810OTOFc.2407-18_2407-4delinsACACCCCCTCCTTCG (n.2407-18_2407-4delinsACACCCCCTCCTTCG)
c.166-18_166-4delinsACACCCCCTCCTTCG (n.166-18_166-4delinsACACCCCCTCCTTCG)
c.337-18_337-4delinsACACCCCCTCCTTCG (n.337-18_337-4delinsACACCCCCTCCTTCG)
c.2452-18_2452-4delinsACACCCCCTCCTTCG (n.2452-18_2452-4delinsACACCCCCTCCTTCG)
2g.26477293G>ACA1563907OTOFc.2407-5C>T (n.2407-5C>T)
c.166-5C>T (n.166-5C>T)
c.337-5C>T (n.337-5C>T)
c.2452-5C>T (n.2452-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477293G=CA1239829820OTOFc.2407-5C= (n.2407-5C=)
c.166-5C= (n.166-5C=)
c.337-5C= (n.337-5C=)
c.2452-5C= (n.2452-5C=)
2g.26477294_26477296delCA2697547890OTOFc.2407-7_2407-5del (n.2407-7_2407-5del)
c.166-7_166-5del (n.166-7_166-5del)
c.337-7_337-5del (n.337-7_337-5del)
c.2452-7_2452-5del (n.2452-7_2452-5del)
 ClinVar
2g.26477294_26477305delCA767285045OTOFc.2407-16_2407-5del (n.2407-16_2407-5del)
c.166-16_166-5del (n.166-16_166-5del)
c.337-16_337-5del (n.337-16_337-5del)
c.2452-16_2452-5del (n.2452-16_2452-5del)
 ClinVar dbSNP
2g.26477293_26477306delCA1563906OTOFc.2407-18_2407-5del (n.2407-18_2407-5del)
c.166-18_166-5del (n.166-18_166-5del)
c.337-18_337-5del (n.337-18_337-5del)
c.2452-18_2452-5del (n.2452-18_2452-5del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477294A=CA1239829824OTOFc.2407-6T= (n.2407-6T=)
c.166-6T= (n.166-6T=)
c.337-6T= (n.337-6T=)
c.2452-6T= (n.2452-6T=)
2g.26477294A>GCA531761834OTOFc.2407-6T>C (n.2407-6T>C)
c.166-6T>C (n.166-6T>C)
c.337-6T>C (n.337-6T>C)
c.2452-6T>C (n.2452-6T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26477295A=CA1239829826OTOFc.2407-7T= (n.2407-7T=)
c.166-7T= (n.166-7T=)
c.337-7T= (n.337-7T=)
c.2452-7T= (n.2452-7T=)
2g.26477295A>TCA767285048OTOFc.2407-7T>A (n.2407-7T>A)
c.166-7T>A (n.166-7T>A)
c.337-7T>A (n.337-7T>A)
c.2452-7T>A (n.2452-7T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.26477296G>ACA2576699501OTOFc.2407-8C>T (n.2407-8C>T)
c.166-8C>T (n.166-8C>T)
c.337-8C>T (n.337-8C>T)
c.2452-8C>T (n.2452-8C>T)
 gnomAD v4
2g.26477296G>TCA2658237877OTOFc.2407-8C>A (n.2407-8C>A)
c.166-8C>A (n.166-8C>A)
c.337-8C>A (n.337-8C>A)
c.2452-8C>A (n.2452-8C>A)
 gnomAD v4
2g.26477297G>ACA2658237878OTOFc.2407-9C>T (n.2407-9C>T)
c.166-9C>T (n.166-9C>T)
c.337-9C>T (n.337-9C>T)
c.2452-9C>T (n.2452-9C>T)
 gnomAD v4
2g.26477297G>CCA2658237879OTOFc.2407-9C>G (n.2407-9C>G)
c.166-9C>G (n.166-9C>G)
c.337-9C>G (n.337-9C>G)
c.2452-9C>G (n.2452-9C>G)
 ClinVar gnomAD v4
2g.26477297G=CA1239829827OTOFc.2407-9C= (n.2407-9C=)
c.166-9C= (n.166-9C=)
c.337-9C= (n.337-9C=)
c.2452-9C= (n.2452-9C=)
2g.26477297G>TCA1563908OTOFc.2407-9C>A (n.2407-9C>A)
c.166-9C>A (n.166-9C>A)
c.337-9C>A (n.337-9C>A)
c.2452-9C>A (n.2452-9C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477297_26477298delinsTTCA2499215833OTOFc.2407-10_2407-9delinsAA (n.2407-10_2407-9delinsAA)
c.166-10_166-9delinsAA (n.166-10_166-9delinsAA)
c.337-10_337-9delinsAA (n.337-10_337-9delinsAA)
c.2452-10_2452-9delinsAA (n.2452-10_2452-9delinsAA)
 ClinVar dbSNP
2g.26477298A=CA1239829831OTOFc.2407-10T= (n.2407-10T=)
c.166-10T= (n.166-10T=)
c.337-10T= (n.337-10T=)
c.2452-10T= (n.2452-10T=)
2g.26477298A>TCA1563909OTOFc.2407-10T>A (n.2407-10T>A)
c.166-10T>A (n.166-10T>A)
c.337-10T>A (n.337-10T>A)
c.2452-10T>A (n.2452-10T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477298_26477299delinsAGCA1239829830OTOFc.2407-11_2407-10delinsCT (n.2407-11_2407-10delinsCT)
c.166-11_166-10delinsCT (n.166-11_166-10delinsCT)
c.337-11_337-10delinsCT (n.337-11_337-10delinsCT)
c.2452-11_2452-10delinsCT (n.2452-11_2452-10delinsCT)
2g.26477299G>ACA531761835OTOFc.2407-11C>T (n.2407-11C>T)
c.166-11C>T (n.166-11C>T)
c.337-11C>T (n.337-11C>T)
c.2452-11C>T (n.2452-11C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477299G>CCA1239829833OTOFc.2407-11C>G (n.2407-11C>G)
c.166-11C>G (n.166-11C>G)
c.337-11C>G (n.337-11C>G)
c.2452-11C>G (n.2452-11C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.26477299G=CA1239829835OTOFc.2407-11C= (n.2407-11C=)
c.166-11C= (n.166-11C=)
c.337-11C= (n.337-11C=)
c.2452-11C= (n.2452-11C=)
2g.26477299G>TCA2523587161OTOFc.2407-11C>A (n.2407-11C>A)
c.166-11C>A (n.166-11C>A)
c.337-11C>A (n.337-11C>A)
c.2452-11C>A (n.2452-11C>A)
 gnomAD v4
2g.26477303dupCA1239829832OTOFc.2407-11dup (n.2407-11dup)
c.166-11dup (n.166-11dup)
c.337-11dup (n.337-11dup)
c.2452-11dup (n.2452-11dup)
 dbSNP
2g.26477303delCA44398360OTOFc.2407-11del (n.2407-11del)
c.166-11del (n.166-11del)
c.337-11del (n.337-11del)
c.2452-11del (n.2452-11del)
 dbSNP
2g.26477300G>ACA44398364OTOFc.2407-12C>T (n.2407-12C>T)
c.166-12C>T (n.166-12C>T)
c.337-12C>T (n.337-12C>T)
c.2452-12C>T (n.2452-12C>T)
 dbSNP
2g.26477300G=CA1239829838OTOFc.2407-12C= (n.2407-12C=)
c.166-12C= (n.166-12C=)
c.337-12C= (n.337-12C=)
c.2452-12C= (n.2452-12C=)
2g.26477300G>TCA2658237880OTOFc.2407-12C>A (n.2407-12C>A)
c.166-12C>A (n.166-12C>A)
c.337-12C>A (n.337-12C>A)
c.2452-12C>A (n.2452-12C>A)
 gnomAD v4
2g.26477301G>CCA2658237881OTOFc.2407-13C>G (n.2407-13C>G)
c.166-13C>G (n.166-13C>G)
c.337-13C>G (n.337-13C>G)
c.2452-13C>G (n.2452-13C>G)
 gnomAD v4
2g.26477301G=CA1239829841OTOFc.2407-13C= (n.2407-13C=)
c.166-13C= (n.166-13C=)
c.337-13C= (n.337-13C=)
c.2452-13C= (n.2452-13C=)
2g.26477301G>TCA1239829842OTOFc.2407-13C>A (n.2407-13C>A)
c.166-13C>A (n.166-13C>A)
c.337-13C>A (n.337-13C>A)
c.2452-13C>A (n.2452-13C>A)
 dbSNP
2g.26477302G>ACA1563910OTOFc.2407-14C>T (n.2407-14C>T)
c.166-14C>T (n.166-14C>T)
c.337-14C>T (n.337-14C>T)
c.2452-14C>T (n.2452-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477302G=CA1239829846OTOFc.2407-14C= (n.2407-14C=)
c.166-14C= (n.166-14C=)
c.337-14C= (n.337-14C=)
c.2452-14C= (n.2452-14C=)
2g.26477302G>TCA1239829848OTOFc.2407-14C>A (n.2407-14C>A)
c.166-14C>A (n.166-14C>A)
c.337-14C>A (n.337-14C>A)
c.2452-14C>A (n.2452-14C>A)
 dbSNP gnomAD v4
2g.26477303G>ACA44398369OTOFc.2407-15C>T (n.2407-15C>T)
c.166-15C>T (n.166-15C>T)
c.337-15C>T (n.337-15C>T)
c.2452-15C>T (n.2452-15C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477303G=CA1239829850OTOFc.2407-15C= (n.2407-15C=)
c.166-15C= (n.166-15C=)
c.337-15C= (n.337-15C=)
c.2452-15C= (n.2452-15C=)
2g.26477303G>TCA531761836OTOFc.2407-15C>A (n.2407-15C>A)
c.166-15C>A (n.166-15C>A)
c.337-15C>A (n.337-15C>A)
c.2452-15C>A (n.2452-15C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26477304T>CCA2658237882OTOFc.2407-16A>G (n.2407-16A>G)
c.166-16A>G (n.166-16A>G)
c.337-16A>G (n.337-16A>G)
c.2452-16A>G (n.2452-16A>G)
 gnomAD v4
2g.26477304T>GCA1239829852OTOFc.2407-16A>C (n.2407-16A>C)
c.166-16A>C (n.166-16A>C)
c.337-16A>C (n.337-16A>C)
c.2452-16A>C (n.2452-16A>C)
 dbSNP
2g.26477304T=CA1239829853OTOFc.2407-16A= (n.2407-16A=)
c.166-16A= (n.166-16A=)
c.337-16A= (n.337-16A=)
c.2452-16A= (n.2452-16A=)
2g.26477305G>ACA1563911OTOFc.2407-17C>T (n.2407-17C>T)
c.166-17C>T (n.166-17C>T)
c.337-17C>T (n.337-17C>T)
c.2452-17C>T (n.2452-17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477305G>CCA767285091OTOFc.2407-17C>G (n.2407-17C>G)
c.166-17C>G (n.166-17C>G)
c.337-17C>G (n.337-17C>G)
c.2452-17C>G (n.2452-17C>G)
 dbSNP
2g.26477305G=CA1239829856OTOFc.2407-17C= (n.2407-17C=)
c.166-17C= (n.166-17C=)
c.337-17C= (n.337-17C=)
c.2452-17C= (n.2452-17C=)
2g.26477305G>TCA2576699502OTOFc.2407-17C>A (n.2407-17C>A)
c.166-17C>A (n.166-17C>A)
c.337-17C>A (n.337-17C>A)
c.2452-17C>A (n.2452-17C>A)
 gnomAD v4
2g.26477305_26477306delinsCCCA2580066195OTOFc.2407-18_2407-17delinsGG (n.2407-18_2407-17delinsGG)
c.166-18_166-17delinsGG (n.166-18_166-17delinsGG)
c.337-18_337-17delinsGG (n.337-18_337-17delinsGG)
c.2452-18_2452-17delinsGG (n.2452-18_2452-17delinsGG)
 ClinVar
2g.26477306T>CCA1563912OTOFc.2407-18A>G (n.2407-18A>G)
c.166-18A>G (n.166-18A>G)
c.337-18A>G (n.337-18A>G)
c.2452-18A>G (n.2452-18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477306T=CA1239829860OTOFc.2407-18A= (n.2407-18A=)
c.166-18A= (n.166-18A=)
c.337-18A= (n.337-18A=)
c.2452-18A= (n.2452-18A=)
2g.26477307_26477308insCCCA1563913OTOFc.2407-19_2407-18insGG (n.2407-19_2407-18insGG)
c.166-19_166-18insGG (n.166-19_166-18insGG)
c.337-19_337-18insGG (n.337-19_337-18insGG)
c.2452-19_2452-18insGG (n.2452-19_2452-18insGG)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477308A>CCA2658237883OTOFc.2407-20T>G (n.2407-20T>G)
c.166-20T>G (n.166-20T>G)
c.337-20T>G (n.337-20T>G)
c.2452-20T>G (n.2452-20T>G)
 gnomAD v4
2g.26477309G>CCA2658237884OTOFc.2407-21C>G (n.2407-21C>G)
c.166-21C>G (n.166-21C>G)
c.337-21C>G (n.337-21C>G)
c.2452-21C>G (n.2452-21C>G)
 gnomAD v4
2g.26477309G>TCA2658237885OTOFc.2407-21C>A (n.2407-21C>A)
c.166-21C>A (n.166-21C>A)
c.337-21C>A (n.337-21C>A)
c.2452-21C>A (n.2452-21C>A)
 gnomAD v4
2g.26477310T>CCA1563914OTOFc.2407-22A>G (n.2407-22A>G)
c.166-22A>G (n.166-22A>G)
c.337-22A>G (n.337-22A>G)
c.2452-22A>G (n.2452-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477310T=CA1239829864OTOFc.2407-22A= (n.2407-22A=)
c.166-22A= (n.166-22A=)
c.337-22A= (n.337-22A=)
c.2452-22A= (n.2452-22A=)
2g.26477311G>ACA2658237886OTOFc.2407-23C>T (n.2407-23C>T)
c.166-23C>T (n.166-23C>T)
c.337-23C>T (n.337-23C>T)
c.2452-23C>T (n.2452-23C>T)
 gnomAD v4
2g.26477315C>ACA531761837OTOFc.2407-27G>T (n.2407-27G>T)
c.166-27G>T (n.166-27G>T)
c.337-27G>T (n.337-27G>T)
c.2452-27G>T (n.2452-27G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477315C=CA1239829866OTOFc.2407-27G= (n.2407-27G=)
c.166-27G= (n.166-27G=)
c.337-27G= (n.337-27G=)
c.2452-27G= (n.2452-27G=)
2g.26477316C=CA1239829868OTOFc.2407-28G= (n.2407-28G=)
c.166-28G= (n.166-28G=)
c.337-28G= (n.337-28G=)
c.2452-28G= (n.2452-28G=)
2g.26477316C>TCA531761838OTOFc.2407-28G>A (n.2407-28G>A)
c.166-28G>A (n.166-28G>A)
c.337-28G>A (n.337-28G>A)
c.2452-28G>A (n.2452-28G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26477317A>GCA2658237887OTOFc.2407-29T>C (n.2407-29T>C)
c.166-29T>C (n.166-29T>C)
c.337-29T>C (n.337-29T>C)
c.2452-29T>C (n.2452-29T>C)
 gnomAD v4
2g.26477318G>ACA2658237889OTOFc.2407-30C>T (n.2407-30C>T)
c.166-30C>T (n.166-30C>T)
c.337-30C>T (n.337-30C>T)
c.2452-30C>T (n.2452-30C>T)
 gnomAD v4
2g.26477318G>TCA2658237888OTOFc.2407-30C>A (n.2407-30C>A)
c.166-30C>A (n.166-30C>A)
c.337-30C>A (n.337-30C>A)
c.2452-30C>A (n.2452-30C>A)
 gnomAD v4
2g.26477319C>ACA1563915OTOFc.2407-31G>T (n.2407-31G>T)
c.166-31G>T (n.166-31G>T)
c.337-31G>T (n.337-31G>T)
c.2452-31G>T (n.2452-31G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477319C=CA1239829873OTOFc.2407-31G= (n.2407-31G=)
c.166-31G= (n.166-31G=)
c.337-31G= (n.337-31G=)
c.2452-31G= (n.2452-31G=)
2g.26477321A>GCA2658237890OTOFc.2407-33T>C (n.2407-33T>C)
c.166-33T>C (n.166-33T>C)
c.337-33T>C (n.337-33T>C)
c.2452-33T>C (n.2452-33T>C)
 gnomAD v4
2g.26477323T>ACA531761839OTOFc.2407-35A>T (n.2407-35A>T)
c.166-35A>T (n.166-35A>T)
c.337-35A>T (n.337-35A>T)
c.2452-35A>T (n.2452-35A>T)
 dbSNP gnomAD v2
2g.26477323T>GCA2658237891OTOFc.2407-35A>C (n.2407-35A>C)
c.166-35A>C (n.166-35A>C)
c.337-35A>C (n.337-35A>C)
c.2452-35A>C (n.2452-35A>C)
 gnomAD v4
2g.26477323T=CA1239829876OTOFc.2407-35A= (n.2407-35A=)
c.166-35A= (n.166-35A=)
c.337-35A= (n.337-35A=)
c.2452-35A= (n.2452-35A=)
2g.26477324G>ACA1239829879OTOFc.2407-36C>T (n.2407-36C>T)
c.166-36C>T (n.166-36C>T)
c.337-36C>T (n.337-36C>T)
c.2452-36C>T (n.2452-36C>T)
 dbSNP gnomAD v4
2g.26477324G=CA1239829878OTOFc.2407-36C= (n.2407-36C=)
c.166-36C= (n.166-36C=)
c.337-36C= (n.337-36C=)
c.2452-36C= (n.2452-36C=)
2g.26477324G>TCA2504647208OTOFc.2407-36C>A (n.2407-36C>A)
c.166-36C>A (n.166-36C>A)
c.337-36C>A (n.337-36C>A)
c.2452-36C>A (n.2452-36C>A)
2g.26477328delCA2576699503OTOFc.2407-36del (n.2407-36del)
c.166-36del (n.166-36del)
c.337-36del (n.337-36del)
c.2452-36del (n.2452-36del)
 gnomAD v4
2g.26477324_26477348delinsGGGGGACAGCTCGGGCCATGACAAACA1239829880OTOFc.2407-60_2407-36delinsTTTGTCATGGCCCGAGCTGTCCCCC (n.2407-60_2407-36delinsTTTGTCATGGCCCGAGCTGTCCCCC)
c.166-60_166-36delinsTTTGTCATGGCCCGAGCTGTCCCCC (n.166-60_166-36delinsTTTGTCATGGCCCGAGCTGTCCCCC)
c.337-60_337-36delinsTTTGTCATGGCCCGAGCTGTCCCCC (n.337-60_337-36delinsTTTGTCATGGCCCGAGCTGTCCCCC)
c.2452-60_2452-36delinsTTTGTCATGGCCCGAGCTGTCCCCC (n.2452-60_2452-36delinsTTTGTCATGGCCCGAGCTGTCCCCC)
2g.26477324_26477325insTCA2749240620OTOFc.2407-37_2407-36insA (n.2407-37_2407-36insA)
c.166-37_166-36insA (n.166-37_166-36insA)
c.337-37_337-36insA (n.337-37_337-36insA)
c.2452-37_2452-36insA (n.2452-37_2452-36insA)
2g.26477325G>ACA1563916OTOFc.2407-37C>T (n.2407-37C>T)
c.166-37C>T (n.166-37C>T)
c.337-37C>T (n.337-37C>T)
c.2452-37C>T (n.2452-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477325G>CCA2658237892OTOFc.2407-37C>G (n.2407-37C>G)
c.166-37C>G (n.166-37C>G)
c.337-37C>G (n.337-37C>G)
c.2452-37C>G (n.2452-37C>G)
 gnomAD v4
2g.26477325G=CA1239829883OTOFc.2407-37C= (n.2407-37C=)
c.166-37C= (n.166-37C=)
c.337-37C= (n.337-37C=)
c.2452-37C= (n.2452-37C=)
2g.26477329_26477352delCA1239829882OTOFc.2407-60_2407-37del (n.2407-60_2407-37del)
c.166-60_166-37del (n.166-60_166-37del)
c.337-60_337-37del (n.337-60_337-37del)
c.2452-60_2452-37del (n.2452-60_2452-37del)
 dbSNP
2g.26477326G>ACA1239829888OTOFc.2407-38C>T (n.2407-38C>T)
c.166-38C>T (n.166-38C>T)
c.337-38C>T (n.337-38C>T)
c.2452-38C>T (n.2452-38C>T)
 dbSNP
2g.26477326G=CA1239829887OTOFc.2407-38C= (n.2407-38C=)
c.166-38C= (n.166-38C=)
c.337-38C= (n.337-38C=)
c.2452-38C= (n.2452-38C=)
2g.26477326G>TCA2658237893OTOFc.2407-38C>A (n.2407-38C>A)
c.166-38C>A (n.166-38C>A)
c.337-38C>A (n.337-38C>A)
c.2452-38C>A (n.2452-38C>A)
 gnomAD v4
2g.26477327G>CCA1239829891OTOFc.2407-39C>G (n.2407-39C>G)
c.166-39C>G (n.166-39C>G)
c.337-39C>G (n.337-39C>G)
c.2452-39C>G (n.2452-39C>G)
 dbSNP
2g.26477327G=CA1239829890OTOFc.2407-39C= (n.2407-39C=)
c.166-39C= (n.166-39C=)
c.337-39C= (n.337-39C=)
c.2452-39C= (n.2452-39C=)
2g.26477328G>ACA2658237894OTOFc.2407-40C>T (n.2407-40C>T)
c.166-40C>T (n.166-40C>T)
c.337-40C>T (n.337-40C>T)
c.2452-40C>T (n.2452-40C>T)
 dbSNP gnomAD v4
2g.26477328G>TCA2658237895OTOFc.2407-40C>A (n.2407-40C>A)
c.166-40C>A (n.166-40C>A)
c.337-40C>A (n.337-40C>A)
c.2452-40C>A (n.2452-40C>A)
 gnomAD v4
2g.26477330C=CA1239829894OTOFc.2407-42G= (n.2407-42G=)
c.166-42G= (n.166-42G=)
c.337-42G= (n.337-42G=)
c.2452-42G= (n.2452-42G=)
2g.26477330C>TCA1563917OTOFc.2407-42G>A (n.2407-42G>A)
c.166-42G>A (n.166-42G>A)
c.337-42G>A (n.337-42G>A)
c.2452-42G>A (n.2452-42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477331A=CA1239829896OTOFc.2407-43T= (n.2407-43T=)
c.166-43T= (n.166-43T=)
c.337-43T= (n.337-43T=)
c.2452-43T= (n.2452-43T=)
2g.26477331A>GCA44398386OTOFc.2407-43T>C (n.2407-43T>C)
c.166-43T>C (n.166-43T>C)
c.337-43T>C (n.337-43T>C)
c.2452-43T>C (n.2452-43T>C)
 dbSNP gnomAD v4
2g.26477332G>ACA2658237898OTOFc.2407-44C>T (n.2407-44C>T)
c.166-44C>T (n.166-44C>T)
c.337-44C>T (n.337-44C>T)
c.2452-44C>T (n.2452-44C>T)
 gnomAD v4
2g.26477332G>CCA2658237897OTOFc.2407-44C>G (n.2407-44C>G)
c.166-44C>G (n.166-44C>G)
c.337-44C>G (n.337-44C>G)
c.2452-44C>G (n.2452-44C>G)
 gnomAD v4
2g.26477332G>TCA2658237896OTOFc.2407-44C>A (n.2407-44C>A)
c.166-44C>A (n.166-44C>A)
c.337-44C>A (n.337-44C>A)
c.2452-44C>A (n.2452-44C>A)
 gnomAD v4
2g.26477333C>ACA2658237899OTOFc.2407-45G>T (n.2407-45G>T)
c.166-45G>T (n.166-45G>T)
c.337-45G>T (n.337-45G>T)
c.2452-45G>T (n.2452-45G>T)
 gnomAD v4
2g.26477333C=CA1239829898OTOFc.2407-45G= (n.2407-45G=)
c.166-45G= (n.166-45G=)
c.337-45G= (n.337-45G=)
c.2452-45G= (n.2452-45G=)
2g.26477333C>TCA1563918OTOFc.2407-45G>A (n.2407-45G>A)
c.166-45G>A (n.166-45G>A)
c.337-45G>A (n.337-45G>A)
c.2452-45G>A (n.2452-45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477335C>ACA646574037OTOFc.2407-47G>T (n.2407-47G>T)
c.166-47G>T (n.166-47G>T)
c.337-47G>T (n.337-47G>T)
c.2452-47G>T (n.2452-47G>T)
 gnomAD v4 COSMIC
2g.26477335C=CA1239829902OTOFc.2407-47G= (n.2407-47G=)
c.166-47G= (n.166-47G=)
c.337-47G= (n.337-47G=)
c.2452-47G= (n.2452-47G=)
2g.26477335C>GCA2658237900OTOFc.2407-47G>C (n.2407-47G>C)
c.166-47G>C (n.166-47G>C)
c.337-47G>C (n.337-47G>C)
c.2452-47G>C (n.2452-47G>C)
 gnomAD v4
2g.26477335C>TCA44398390OTOFc.2407-47G>A (n.2407-47G>A)
c.166-47G>A (n.166-47G>A)
c.337-47G>A (n.337-47G>A)
c.2452-47G>A (n.2452-47G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477336G>ACA1563919OTOFc.2407-48C>T (n.2407-48C>T)
c.166-48C>T (n.166-48C>T)
c.337-48C>T (n.337-48C>T)
c.2452-48C>T (n.2452-48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477336G=CA1239829903OTOFc.2407-48C= (n.2407-48C=)
c.166-48C= (n.166-48C=)
c.337-48C= (n.337-48C=)
c.2452-48C= (n.2452-48C=)
2g.26477336G>TCA646574043OTOFc.2407-48C>A (n.2407-48C>A)
c.166-48C>A (n.166-48C>A)
c.337-48C>A (n.337-48C>A)
c.2452-48C>A (n.2452-48C>A)
 COSMIC
2g.26477337G>ACA1239829907OTOFc.2407-49C>T (n.2407-49C>T)
c.166-49C>T (n.166-49C>T)
c.337-49C>T (n.337-49C>T)
c.2452-49C>T (n.2452-49C>T)
 dbSNP
2g.26477337G>CCA2658237901OTOFc.2407-49C>G (n.2407-49C>G)
c.166-49C>G (n.166-49C>G)
c.337-49C>G (n.337-49C>G)
c.2452-49C>G (n.2452-49C>G)
 gnomAD v4
2g.26477337G=CA1239829905OTOFc.2407-49C= (n.2407-49C=)
c.166-49C= (n.166-49C=)
c.337-49C= (n.337-49C=)
c.2452-49C= (n.2452-49C=)
2g.26477338G>ACA44398394OTOFc.2407-50C>T (n.2407-50C>T)
c.166-50C>T (n.166-50C>T)
c.337-50C>T (n.337-50C>T)
c.2452-50C>T (n.2452-50C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477338G>CCA1028608256OTOFc.2407-50C>G (n.2407-50C>G)
c.166-50C>G (n.166-50C>G)
c.337-50C>G (n.337-50C>G)
c.2452-50C>G (n.2452-50C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.26477338G=CA1239829910OTOFc.2407-50C= (n.2407-50C=)
c.166-50C= (n.166-50C=)
c.337-50C= (n.337-50C=)
c.2452-50C= (n.2452-50C=)
2g.26477339C>ACA2658237902OTOFc.2407-51G>T (n.2407-51G>T)
c.166-51G>T (n.166-51G>T)
c.337-51G>T (n.337-51G>T)
c.2452-51G>T (n.2452-51G>T)
 gnomAD v4
2g.26477339C>TCA2658237903OTOFc.2407-51G>A (n.2407-51G>A)
c.166-51G>A (n.166-51G>A)
c.337-51G>A (n.337-51G>A)
c.2452-51G>A (n.2452-51G>A)
 gnomAD v4
2g.26477340C>TCA2658237904OTOFc.2407-52G>A (n.2407-52G>A)
c.166-52G>A (n.166-52G>A)
c.337-52G>A (n.337-52G>A)
c.2452-52G>A (n.2452-52G>A)
 gnomAD v4
2g.26477341A>GCA2544827129OTOFc.2407-53T>C (n.2407-53T>C)
c.166-53T>C (n.166-53T>C)
c.337-53T>C (n.337-53T>C)
c.2452-53T>C (n.2452-53T>C)
 dbSNP gnomAD v4
2g.26477341A>TCA2658237905OTOFc.2407-53T>A (n.2407-53T>A)
c.166-53T>A (n.166-53T>A)
c.337-53T>A (n.337-53T>A)
c.2452-53T>A (n.2452-53T>A)
 gnomAD v4
2g.26477342T>CCA767285115OTOFc.2407-54A>G (n.2407-54A>G)
c.166-54A>G (n.166-54A>G)
c.337-54A>G (n.337-54A>G)
c.2452-54A>G (n.2452-54A>G)
 dbSNP gnomAD v4
2g.26477342T=CA1239829911OTOFc.2407-54A= (n.2407-54A=)
c.166-54A= (n.166-54A=)
c.337-54A= (n.337-54A=)
c.2452-54A= (n.2452-54A=)
2g.26477343G>TCA2658237906OTOFc.2407-55C>A (n.2407-55C>A)
c.166-55C>A (n.166-55C>A)
c.337-55C>A (n.337-55C>A)
c.2452-55C>A (n.2452-55C>A)
 gnomAD v4
2g.26477345C>ACA2658237907OTOFc.2407-57G>T (n.2407-57G>T)
c.166-57G>T (n.166-57G>T)
c.337-57G>T (n.337-57G>T)
c.2452-57G>T (n.2452-57G>T)
 gnomAD v4
2g.26477345C=CA1239829913OTOFc.2407-57G= (n.2407-57G=)
c.166-57G= (n.166-57G=)
c.337-57G= (n.337-57G=)
c.2452-57G= (n.2452-57G=)
2g.26477345C>TCA1028608257OTOFc.2407-57G>A (n.2407-57G>A)
c.166-57G>A (n.166-57G>A)
c.337-57G>A (n.337-57G>A)
c.2452-57G>A (n.2452-57G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.26477349G>ACA2576699504OTOFc.2407-61C>T (n.2407-61C>T)
c.166-61C>T (n.166-61C>T)
c.337-61C>T (n.337-61C>T)
c.2452-61C>T (n.2452-61C>T)
 gnomAD v4
2g.26477349G>CCA44398398OTOFc.2407-61C>G (n.2407-61C>G)
c.166-61C>G (n.166-61C>G)
c.337-61C>G (n.337-61C>G)
c.2452-61C>G (n.2452-61C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477349G=CA1239829915OTOFc.2407-61C= (n.2407-61C=)
c.166-61C= (n.166-61C=)
c.337-61C= (n.337-61C=)
c.2452-61C= (n.2452-61C=)
2g.26477349G>TCA2658237908OTOFc.2407-61C>A (n.2407-61C>A)
c.166-61C>A (n.166-61C>A)
c.337-61C>A (n.337-61C>A)
c.2452-61C>A (n.2452-61C>A)
 gnomAD v4
2g.26477350G>ACA1028608272OTOFc.2407-62C>T (n.2407-62C>T)
c.166-62C>T (n.166-62C>T)
c.337-62C>T (n.337-62C>T)
c.2452-62C>T (n.2452-62C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.26477350G>CCA2576699505OTOFc.2407-62C>G (n.2407-62C>G)
c.166-62C>G (n.166-62C>G)
c.337-62C>G (n.337-62C>G)
c.2452-62C>G (n.2452-62C>G)
2g.26477350G=CA1239829917OTOFc.2407-62C= (n.2407-62C=)
c.166-62C= (n.166-62C=)
c.337-62C= (n.337-62C=)
c.2452-62C= (n.2452-62C=)
2g.26477350G>TCA2658237909OTOFc.2407-62C>A (n.2407-62C>A)
c.166-62C>A (n.166-62C>A)
c.337-62C>A (n.337-62C>A)
c.2452-62C>A (n.2452-62C>A)
 gnomAD v4

Number of alleles fetched