Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128357322T>ACA360767374FBN2c.2628A>T (p.Glu876Asp)
c.2529A>T (p.Glu843Asp)
c.2625A>T (p.Glu875Asp)
c.2475A>T (p.Glu825Asp)
5g.128357322T>CCA3395492FBN2c.2628A>G (p.Glu876=)
c.2529A>G (p.Glu843=)
c.2625A>G (p.Glu875=)
c.2475A>G (p.Glu825=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357322T>GCA360767375FBN2c.2628A>C (p.Glu876Asp)
c.2529A>C (p.Glu843Asp)
c.2625A>C (p.Glu875Asp)
c.2475A>C (p.Glu825Asp)
5g.128357322T=CA1581282271FBN2c.2628A= (p.Glu876=)
c.2529A= (p.Glu843=)
c.2625A= (p.Glu875=)
c.2475A= (p.Glu825=)
5g.128357323T>ACA360767376FBN2c.2627A>T (p.Glu876Val)
c.2528A>T (p.Glu843Val)
c.2624A>T (p.Glu875Val)
c.2474A>T (p.Glu825Val)
5g.128357323T>CCA360767377FBN2c.2627A>G (p.Glu876Gly)
c.2528A>G (p.Glu843Gly)
c.2624A>G (p.Glu875Gly)
c.2474A>G (p.Glu825Gly)
5g.128357323T>GCA360767378FBN2c.2627A>C (p.Glu876Ala)
c.2528A>C (p.Glu843Ala)
c.2624A>C (p.Glu875Ala)
c.2474A>C (p.Glu825Ala)
5g.128357324C>ACA360767379FBN2c.2626G>T (p.Glu876Ter)
c.2527G>T (p.Glu843Ter)
c.2623G>T (p.Glu875Ter)
c.2473G>T (p.Glu825Ter)
5g.128357324C>GCA360767380FBN2c.2626G>C (p.Glu876Gln)
c.2527G>C (p.Glu843Gln)
c.2623G>C (p.Glu875Gln)
c.2473G>C (p.Glu825Gln)
5g.128357324C>TCA360767381FBN2c.2626G>A (p.Glu876Lys)
c.2527G>A (p.Glu843Lys)
c.2623G>A (p.Glu875Lys)
c.2473G>A (p.Glu825Lys)
5g.128357325A=CA1581282272FBN2c.2625T= (p.Cys875=)
c.2526T= (p.Cys842=)
c.2622T= (p.Cys874=)
c.2472T= (p.Cys824=)
5g.128357325A>CCA360767383FBN2c.2625T>G (p.Cys875Trp)
c.2526T>G (p.Cys842Trp)
c.2622T>G (p.Cys874Trp)
c.2472T>G (p.Cys824Trp)
5g.128357325A>GCA324088FBN2c.2625T>C (p.Cys875=)
c.2526T>C (p.Cys842=)
c.2622T>C (p.Cys874=)
c.2472T>C (p.Cys824=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357325A>TCA360767382FBN2c.2625T>A (p.Cys875Ter)
c.2526T>A (p.Cys842Ter)
c.2622T>A (p.Cys874Ter)
c.2472T>A (p.Cys824Ter)
5g.128357326C>ACA360767384FBN2c.2624G>T (p.Cys875Phe)
c.2525G>T (p.Cys842Phe)
c.2621G>T (p.Cys874Phe)
c.2471G>T (p.Cys824Phe)
5g.128357326C>GCA360767385FBN2c.2624G>C (p.Cys875Ser)
c.2525G>C (p.Cys842Ser)
c.2621G>C (p.Cys874Ser)
c.2471G>C (p.Cys824Ser)
5g.128357326C>TCA360767386FBN2c.2624G>A (p.Cys875Tyr)
c.2525G>A (p.Cys842Tyr)
c.2621G>A (p.Cys874Tyr)
c.2471G>A (p.Cys824Tyr)
5g.128357327A>CCA360767387FBN2c.2623T>G (p.Cys875Gly)
c.2524T>G (p.Cys842Gly)
c.2620T>G (p.Cys874Gly)
c.2470T>G (p.Cys824Gly)
5g.128357327A>GCA360767388FBN2c.2623T>C (p.Cys875Arg)
c.2524T>C (p.Cys842Arg)
c.2620T>C (p.Cys874Arg)
c.2470T>C (p.Cys824Arg)
5g.128357327A>TCA360767389FBN2c.2623T>A (p.Cys875Ser)
c.2524T>A (p.Cys842Ser)
c.2620T>A (p.Cys874Ser)
c.2470T>A (p.Cys824Ser)
5g.128357328A>CCA360767390FBN2c.2622T>G (p.Asn874Lys)
c.2523T>G (p.Asn841Lys)
c.2619T>G (p.Asn873Lys)
c.2469T>G (p.Asn823Lys)
5g.128357328A>GCA446312326FBN2c.2622T>C (p.Asn874=)
c.2523T>C (p.Asn841=)
c.2619T>C (p.Asn873=)
c.2469T>C (p.Asn823=)
5g.128357328A>TCA360767391FBN2c.2622T>A (p.Asn874Lys)
c.2523T>A (p.Asn841Lys)
c.2619T>A (p.Asn873Lys)
c.2469T>A (p.Asn823Lys)
 gnomAD v4
5g.128357329T>ACA360767392FBN2c.2621A>T (p.Asn874Ile)
c.2522A>T (p.Asn841Ile)
c.2618A>T (p.Asn873Ile)
c.2468A>T (p.Asn823Ile)
5g.128357329T>CCA360767393FBN2c.2621A>G (p.Asn874Ser)
c.2522A>G (p.Asn841Ser)
c.2618A>G (p.Asn873Ser)
c.2468A>G (p.Asn823Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128357329T>GCA360767394FBN2c.2621A>C (p.Asn874Thr)
c.2522A>C (p.Asn841Thr)
c.2618A>C (p.Asn873Thr)
c.2468A>C (p.Asn823Thr)
 gnomAD v4
5g.128357329T=CA1581282273FBN2c.2621A= (p.Asn874=)
c.2522A= (p.Asn841=)
c.2618A= (p.Asn873=)
c.2468A= (p.Asn823=)
5g.128357330T>ACA360767395FBN2c.2620A>T (p.Asn874Tyr)
c.2521A>T (p.Asn841Tyr)
c.2617A>T (p.Asn873Tyr)
c.2467A>T (p.Asn823Tyr)
 dbSNP
5g.128357330T>CCA360767396FBN2c.2620A>G (p.Asn874Asp)
c.2521A>G (p.Asn841Asp)
c.2617A>G (p.Asn873Asp)
c.2467A>G (p.Asn823Asp)
 dbSNP
5g.128357330T>GCA360767397FBN2c.2620A>C (p.Asn874His)
c.2521A>C (p.Asn841His)
c.2617A>C (p.Asn873His)
c.2467A>C (p.Asn823His)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128357330T=CA1581282274FBN2c.2620A= (p.Asn874=)
c.2521A= (p.Asn841=)
c.2617A= (p.Asn873=)
c.2467A= (p.Asn823=)
5g.128357331G>ACA446312327FBN2c.2619C>T (p.Phe873=)
c.2520C>T (p.Phe840=)
c.2616C>T (p.Phe872=)
c.2466C>T (p.Phe822=)
5g.128357331G>CCA360767398FBN2c.2619C>G (p.Phe873Leu)
c.2520C>G (p.Phe840Leu)
c.2616C>G (p.Phe872Leu)
c.2466C>G (p.Phe822Leu)
5g.128357331G=CA1581282275FBN2c.2619C= (p.Phe873=)
c.2520C= (p.Phe840=)
c.2616C= (p.Phe872=)
c.2466C= (p.Phe822=)
5g.128357331G>TCA360767399FBN2c.2619C>A (p.Phe873Leu)
c.2520C>A (p.Phe840Leu)
c.2616C>A (p.Phe872Leu)
c.2466C>A (p.Phe822Leu)
 dbSNP
5g.128357332A>CCA360767400FBN2c.2618T>G (p.Phe873Cys)
c.2519T>G (p.Phe840Cys)
c.2615T>G (p.Phe872Cys)
c.2465T>G (p.Phe822Cys)
5g.128357332A>GCA360767401FBN2c.2618T>C (p.Phe873Ser)
c.2519T>C (p.Phe840Ser)
c.2615T>C (p.Phe872Ser)
c.2465T>C (p.Phe822Ser)
5g.128357332A>TCA360767402FBN2c.2618T>A (p.Phe873Tyr)
c.2519T>A (p.Phe840Tyr)
c.2615T>A (p.Phe872Tyr)
c.2465T>A (p.Phe822Tyr)
5g.128357333A=CA1581282276FBN2c.2617T= (p.Phe873=)
c.2518T= (p.Phe840=)
c.2614T= (p.Phe872=)
c.2464T= (p.Phe822=)
5g.128357333A>CCA360767403FBN2c.2617T>G (p.Phe873Val)
c.2518T>G (p.Phe840Val)
c.2614T>G (p.Phe872Val)
c.2464T>G (p.Phe822Val)
5g.128357333A>GCA360767404FBN2c.2617T>C (p.Phe873Leu)
c.2518T>C (p.Phe840Leu)
c.2614T>C (p.Phe872Leu)
c.2464T>C (p.Phe822Leu)
5g.128357333A>TCA360767405FBN2c.2617T>A (p.Phe873Ile)
c.2518T>A (p.Phe840Ile)
c.2614T>A (p.Phe872Ile)
c.2464T>A (p.Phe822Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.128357334A>CCA446312328FBN2c.2616T>G (p.Ser872=)
c.2517T>G (p.Ser839=)
c.2613T>G (p.Ser871=)
c.2463T>G (p.Ser821=)
5g.128357334A>GCA446312329FBN2c.2616T>C (p.Ser872=)
c.2517T>C (p.Ser839=)
c.2613T>C (p.Ser871=)
c.2463T>C (p.Ser821=)
5g.128357334A>TCA446312330FBN2c.2616T>A (p.Ser872=)
c.2517T>A (p.Ser839=)
c.2613T>A (p.Ser871=)
c.2463T>A (p.Ser821=)
5g.128357335G>ACA360767408FBN2c.2615C>T (p.Ser872Phe)
c.2516C>T (p.Ser839Phe)
c.2612C>T (p.Ser871Phe)
c.2462C>T (p.Ser821Phe)
5g.128357335G>CCA360767407FBN2c.2615C>G (p.Ser872Cys)
c.2516C>G (p.Ser839Cys)
c.2612C>G (p.Ser871Cys)
c.2462C>G (p.Ser821Cys)
5g.128357335G>TCA360767406FBN2c.2615C>A (p.Ser872Tyr)
c.2516C>A (p.Ser839Tyr)
c.2612C>A (p.Ser871Tyr)
c.2462C>A (p.Ser821Tyr)
 ClinVar
5g.128357336A>CCA360767409FBN2c.2614T>G (p.Ser872Ala)
c.2515T>G (p.Ser839Ala)
c.2611T>G (p.Ser871Ala)
c.2461T>G (p.Ser821Ala)
5g.128357336A>GCA360767410FBN2c.2614T>C (p.Ser872Pro)
c.2515T>C (p.Ser839Pro)
c.2611T>C (p.Ser871Pro)
c.2461T>C (p.Ser821Pro)
5g.128357336A>TCA360767411FBN2c.2614T>A (p.Ser872Thr)
c.2515T>A (p.Ser839Thr)
c.2611T>A (p.Ser871Thr)
c.2461T>A (p.Ser821Thr)
 gnomAD v4
5g.128357337T>ACA446312334FBN2c.2613A>T (p.Gly871=)
c.2514A>T (p.Gly838=)
c.2610A>T (p.Gly870=)
c.2460A>T (p.Gly820=)
5g.128357337T>CCA446312332FBN2c.2613A>G (p.Gly871=)
c.2514A>G (p.Gly838=)
c.2610A>G (p.Gly870=)
c.2460A>G (p.Gly820=)
5g.128357337T>GCA446312333FBN2c.2613A>C (p.Gly871=)
c.2514A>C (p.Gly838=)
c.2610A>C (p.Gly870=)
c.2460A>C (p.Gly820=)
5g.128357338C>ACA360767412FBN2c.2612G>T (p.Gly871Val)
c.2513G>T (p.Gly838Val)
c.2609G>T (p.Gly870Val)
c.2459G>T (p.Gly820Val)
5g.128357338C>GCA360767413FBN2c.2612G>C (p.Gly871Ala)
c.2513G>C (p.Gly838Ala)
c.2609G>C (p.Gly870Ala)
c.2459G>C (p.Gly820Ala)
5g.128357338C>TCA360767414FBN2c.2612G>A (p.Gly871Glu)
c.2513G>A (p.Gly838Glu)
c.2609G>A (p.Gly870Glu)
c.2459G>A (p.Gly820Glu)
5g.128357339C>ACA360767415FBN2c.2611G>T (p.Gly871Ter)
c.2512G>T (p.Gly838Ter)
c.2608G>T (p.Gly870Ter)
c.2458G>T (p.Gly820Ter)
5g.128357339C=CA1581282277FBN2c.2611G= (p.Gly871=)
c.2512G= (p.Gly838=)
c.2608G= (p.Gly870=)
c.2458G= (p.Gly820=)
5g.128357339C>GCA360767417FBN2c.2611G>C (p.Gly871Arg)
c.2512G>C (p.Gly838Arg)
c.2608G>C (p.Gly870Arg)
c.2458G>C (p.Gly820Arg)
 ClinVar dbSNP
5g.128357339C>TCA360767416FBN2c.2611G>A (p.Gly871Arg)
c.2512G>A (p.Gly838Arg)
c.2608G>A (p.Gly870Arg)
c.2458G>A (p.Gly820Arg)
5g.128357340A>CCA446312335FBN2c.2610T>G (p.Leu870=)
c.2511T>G (p.Leu837=)
c.2607T>G (p.Leu869=)
c.2457T>G (p.Leu819=)
5g.128357340A>GCA446312336FBN2c.2610T>C (p.Leu870=)
c.2511T>C (p.Leu837=)
c.2607T>C (p.Leu869=)
c.2457T>C (p.Leu819=)
5g.128357340A>TCA446312337FBN2c.2610T>A (p.Leu870=)
c.2511T>A (p.Leu837=)
c.2607T>A (p.Leu869=)
c.2457T>A (p.Leu819=)
5g.128357341A>CCA360767418FBN2c.2609T>G (p.Leu870Arg)
c.2510T>G (p.Leu837Arg)
c.2606T>G (p.Leu869Arg)
c.2456T>G (p.Leu819Arg)
5g.128357341A>GCA360767419FBN2c.2609T>C (p.Leu870Pro)
c.2510T>C (p.Leu837Pro)
c.2606T>C (p.Leu869Pro)
c.2456T>C (p.Leu819Pro)
5g.128357341A>TCA360767420FBN2c.2609T>A (p.Leu870His)
c.2510T>A (p.Leu837His)
c.2606T>A (p.Leu869His)
c.2456T>A (p.Leu819His)
5g.128357342G>ACA360767421FBN2c.2608C>T (p.Leu870Phe)
c.2509C>T (p.Leu837Phe)
c.2605C>T (p.Leu869Phe)
c.2455C>T (p.Leu819Phe)
5g.128357342G>CCA360767422FBN2c.2608C>G (p.Leu870Val)
c.2509C>G (p.Leu837Val)
c.2605C>G (p.Leu869Val)
c.2455C>G (p.Leu819Val)
5g.128357342G>TCA360767423FBN2c.2608C>A (p.Leu870Ile)
c.2509C>A (p.Leu837Ile)
c.2605C>A (p.Leu869Ile)
c.2455C>A (p.Leu819Ile)
5g.128357343G>ACA446312339FBN2c.2607C>T (p.Asn869=)
c.2508C>T (p.Asn836=)
c.2604C>T (p.Asn868=)
c.2454C>T (p.Asn818=)
 ClinVar dbSNP
5g.128357343G>CCA360767424FBN2c.2607C>G (p.Asn869Lys)
c.2508C>G (p.Asn836Lys)
c.2604C>G (p.Asn868Lys)
c.2454C>G (p.Asn818Lys)
5g.128357343G=CA1581282278FBN2c.2607C= (p.Asn869=)
c.2508C= (p.Asn836=)
c.2604C= (p.Asn868=)
c.2454C= (p.Asn818=)
5g.128357343G>TCA360767425FBN2c.2607C>A (p.Asn869Lys)
c.2508C>A (p.Asn836Lys)
c.2604C>A (p.Asn868Lys)
c.2454C>A (p.Asn818Lys)
5g.128357344T>ACA360767426FBN2c.2606A>T (p.Asn869Ile)
c.2507A>T (p.Asn836Ile)
c.2603A>T (p.Asn868Ile)
c.2453A>T (p.Asn818Ile)
5g.128357344T>CCA3395493FBN2c.2606A>G (p.Asn869Ser)
c.2507A>G (p.Asn836Ser)
c.2603A>G (p.Asn868Ser)
c.2453A>G (p.Asn818Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357344T>GCA360767427FBN2c.2606A>C (p.Asn869Thr)
c.2507A>C (p.Asn836Thr)
c.2603A>C (p.Asn868Thr)
c.2453A>C (p.Asn818Thr)
 ClinVar gnomAD v4
5g.128357344T=CA1581282279FBN2c.2606A= (p.Asn869=)
c.2507A= (p.Asn836=)
c.2603A= (p.Asn868=)
c.2453A= (p.Asn818=)
5g.128357345T>ACA360767428FBN2c.2605A>T (p.Asn869Tyr)
c.2506A>T (p.Asn836Tyr)
c.2602A>T (p.Asn868Tyr)
c.2452A>T (p.Asn818Tyr)
5g.128357345T>CCA360767430FBN2c.2605A>G (p.Asn869Asp)
c.2506A>G (p.Asn836Asp)
c.2602A>G (p.Asn868Asp)
c.2452A>G (p.Asn818Asp)
5g.128357345T>GCA360767429FBN2c.2605A>C (p.Asn869His)
c.2506A>C (p.Asn836His)
c.2602A>C (p.Asn868His)
c.2452A>C (p.Asn818His)
5g.128357346G>ACA446312340FBN2c.2604C>T (p.Asn868=)
c.2505C>T (p.Asn835=)
c.2601C>T (p.Asn867=)
c.2451C>T (p.Asn817=)
5g.128357346G>CCA360767431FBN2c.2604C>G (p.Asn868Lys)
c.2505C>G (p.Asn835Lys)
c.2601C>G (p.Asn867Lys)
c.2451C>G (p.Asn817Lys)
5g.128357346G>TCA360767432FBN2c.2604C>A (p.Asn868Lys)
c.2505C>A (p.Asn835Lys)
c.2601C>A (p.Asn867Lys)
c.2451C>A (p.Asn817Lys)
5g.128357347T>ACA360767433FBN2c.2603A>T (p.Asn868Ile)
c.2504A>T (p.Asn835Ile)
c.2600A>T (p.Asn867Ile)
c.2450A>T (p.Asn817Ile)
5g.128357347T>CCA360767434FBN2c.2603A>G (p.Asn868Ser)
c.2504A>G (p.Asn835Ser)
c.2600A>G (p.Asn867Ser)
c.2450A>G (p.Asn817Ser)
5g.128357347T>GCA360767435FBN2c.2603A>C (p.Asn868Thr)
c.2504A>C (p.Asn835Thr)
c.2600A>C (p.Asn867Thr)
c.2450A>C (p.Asn817Thr)
5g.128357348T>ACA360767436FBN2c.2602A>T (p.Asn868Tyr)
c.2503A>T (p.Asn835Tyr)
c.2599A>T (p.Asn867Tyr)
c.2449A>T (p.Asn817Tyr)
5g.128357348T>CCA360767437FBN2c.2602A>G (p.Asn868Asp)
c.2503A>G (p.Asn835Asp)
c.2599A>G (p.Asn867Asp)
c.2449A>G (p.Asn817Asp)
 ClinVar
5g.128357348T>GCA360767438FBN2c.2602A>C (p.Asn868His)
c.2503A>C (p.Asn835His)
c.2599A>C (p.Asn867His)
c.2449A>C (p.Asn817His)
5g.128357349T>ACA360767439FBN2c.2601A>T (p.Arg867Ser)
c.2502A>T (p.Arg834Ser)
c.2598A>T (p.Arg866Ser)
c.2448A>T (p.Arg816Ser)
5g.128357349T>CCA446312341FBN2c.2601A>G (p.Arg867=)
c.2502A>G (p.Arg834=)
c.2598A>G (p.Arg866=)
c.2448A>G (p.Arg816=)
5g.128357349T>GCA360767440FBN2c.2601A>C (p.Arg867Ser)
c.2502A>C (p.Arg834Ser)
c.2598A>C (p.Arg866Ser)
c.2448A>C (p.Arg816Ser)
5g.128357350C>ACA360767441FBN2c.2600G>T (p.Arg867Ile)
c.2501G>T (p.Arg834Ile)
c.2597G>T (p.Arg866Ile)
c.2447G>T (p.Arg816Ile)
5g.128357350C>GCA360767442FBN2c.2600G>C (p.Arg867Thr)
c.2501G>C (p.Arg834Thr)
c.2597G>C (p.Arg866Thr)
c.2447G>C (p.Arg816Thr)
5g.128357350C>TCA360767443FBN2c.2600G>A (p.Arg867Lys)
c.2501G>A (p.Arg834Lys)
c.2597G>A (p.Arg866Lys)
c.2447G>A (p.Arg816Lys)
5g.128357351T>ACA360767444FBN2c.2599A>T (p.Arg867Ter)
c.2500A>T (p.Arg834Ter)
c.2596A>T (p.Arg866Ter)
c.2446A>T (p.Arg816Ter)
5g.128357351T>CCA360767445FBN2c.2599A>G (p.Arg867Gly)
c.2500A>G (p.Arg834Gly)
c.2596A>G (p.Arg866Gly)
c.2446A>G (p.Arg816Gly)
5g.128357351T>GCA446312342FBN2c.2599A>C (p.Arg867=)
c.2500A>C (p.Arg834=)
c.2596A>C (p.Arg866=)
c.2446A>C (p.Arg816=)
5g.128357352G>ACA446312343FBN2c.2598C>T (p.Cys866=)
c.2499C>T (p.Cys833=)
c.2595C>T (p.Cys865=)
c.2445C>T (p.Cys815=)
5g.128357352G>CCA360767447FBN2c.2598C>G (p.Cys866Trp)
c.2499C>G (p.Cys833Trp)
c.2595C>G (p.Cys865Trp)
c.2445C>G (p.Cys815Trp)
5g.128357352G>TCA360767446FBN2c.2598C>A (p.Cys866Ter)
c.2499C>A (p.Cys833Ter)
c.2595C>A (p.Cys865Ter)
c.2445C>A (p.Cys815Ter)
5g.128357353C>ACA360767448FBN2c.2597G>T (p.Cys866Phe)
c.2498G>T (p.Cys833Phe)
c.2594G>T (p.Cys865Phe)
c.2444G>T (p.Cys815Phe)
5g.128357353C>GCA360767449FBN2c.2597G>C (p.Cys866Ser)
c.2498G>C (p.Cys833Ser)
c.2594G>C (p.Cys865Ser)
c.2444G>C (p.Cys815Ser)
5g.128357353C>TCA360767450FBN2c.2597G>A (p.Cys866Tyr)
c.2498G>A (p.Cys833Tyr)
c.2594G>A (p.Cys865Tyr)
c.2444G>A (p.Cys815Tyr)
5g.128357354A>CCA360767451FBN2c.2596T>G (p.Cys866Gly)
c.2497T>G (p.Cys833Gly)
c.2593T>G (p.Cys865Gly)
c.2443T>G (p.Cys815Gly)
5g.128357354A>GCA360767452FBN2c.2596T>C (p.Cys866Arg)
c.2497T>C (p.Cys833Arg)
c.2593T>C (p.Cys865Arg)
c.2443T>C (p.Cys815Arg)
5g.128357354A>TCA360767453FBN2c.2596T>A (p.Cys866Ser)
c.2497T>A (p.Cys833Ser)
c.2593T>A (p.Cys865Ser)
c.2443T>A (p.Cys815Ser)
5g.128357355G>ACA446312344FBN2c.2595C>T (p.Ala865=)
c.2496C>T (p.Ala832=)
c.2592C>T (p.Ala864=)
c.2442C>T (p.Ala814=)
5g.128357355G>CCA446312345FBN2c.2595C>G (p.Ala865=)
c.2496C>G (p.Ala832=)
c.2592C>G (p.Ala864=)
c.2442C>G (p.Ala814=)
5g.128357355G>TCA446312346FBN2c.2595C>A (p.Ala865=)
c.2496C>A (p.Ala832=)
c.2592C>A (p.Ala864=)
c.2442C>A (p.Ala814=)
5g.128357356G>ACA360767454FBN2c.2594C>T (p.Ala865Val)
c.2495C>T (p.Ala832Val)
c.2591C>T (p.Ala864Val)
c.2441C>T (p.Ala814Val)
5g.128357356G>CCA360767455FBN2c.2594C>G (p.Ala865Gly)
c.2495C>G (p.Ala832Gly)
c.2591C>G (p.Ala864Gly)
c.2441C>G (p.Ala814Gly)
5g.128357356G>TCA360767456FBN2c.2594C>A (p.Ala865Asp)
c.2495C>A (p.Ala832Asp)
c.2591C>A (p.Ala864Asp)
c.2441C>A (p.Ala814Asp)
5g.128357357C>ACA360767457FBN2c.2593G>T (p.Ala865Ser)
c.2494G>T (p.Ala832Ser)
c.2590G>T (p.Ala864Ser)
c.2440G>T (p.Ala814Ser)
5g.128357357C>GCA360767458FBN2c.2593G>C (p.Ala865Pro)
c.2494G>C (p.Ala832Pro)
c.2590G>C (p.Ala864Pro)
c.2440G>C (p.Ala814Pro)
5g.128357357C>TCA360767459FBN2c.2593G>A (p.Ala865Thr)
c.2494G>A (p.Ala832Thr)
c.2590G>A (p.Ala864Thr)
c.2440G>A (p.Ala814Thr)
5g.128357358C>ACA446312349FBN2c.2592G>T (p.Gly864=)
c.2493G>T (p.Gly831=)
c.2589G>T (p.Gly863=)
c.2439G>T (p.Gly813=)
5g.128357358C>GCA446312348FBN2c.2592G>C (p.Gly864=)
c.2493G>C (p.Gly831=)
c.2589G>C (p.Gly863=)
c.2439G>C (p.Gly813=)
5g.128357358C>TCA446312347FBN2c.2592G>A (p.Gly864=)
c.2493G>A (p.Gly831=)
c.2589G>A (p.Gly863=)
c.2439G>A (p.Gly813=)
 ClinVar gnomAD v4
5g.128357359C>ACA360767462FBN2c.2591G>T (p.Gly864Val)
c.2492G>T (p.Gly831Val)
c.2588G>T (p.Gly863Val)
c.2438G>T (p.Gly813Val)
5g.128357359C>GCA360767461FBN2c.2591G>C (p.Gly864Ala)
c.2492G>C (p.Gly831Ala)
c.2588G>C (p.Gly863Ala)
c.2438G>C (p.Gly813Ala)
5g.128357359C>TCA360767460FBN2c.2591G>A (p.Gly864Glu)
c.2492G>A (p.Gly831Glu)
c.2588G>A (p.Gly863Glu)
c.2438G>A (p.Gly813Glu)
5g.128357360C>ACA360767463FBN2c.2590G>T (p.Gly864Trp)
c.2491G>T (p.Gly831Trp)
c.2587G>T (p.Gly863Trp)
c.2437G>T (p.Gly813Trp)
5g.128357360C>GCA360767464FBN2c.2590G>C (p.Gly864Arg)
c.2491G>C (p.Gly831Arg)
c.2587G>C (p.Gly863Arg)
c.2437G>C (p.Gly813Arg)
5g.128357360C>TCA360767465FBN2c.2590G>A (p.Gly864Arg)
c.2491G>A (p.Gly831Arg)
c.2587G>A (p.Gly863Arg)
c.2437G>A (p.Gly813Arg)
5g.128357361A>CCA360767466FBN2c.2589T>G (p.Asn863Lys)
c.2490T>G (p.Asn830Lys)
c.2586T>G (p.Asn862Lys)
c.2436T>G (p.Asn812Lys)
5g.128357361A>GCA446312350FBN2c.2589T>C (p.Asn863=)
c.2490T>C (p.Asn830=)
c.2586T>C (p.Asn862=)
c.2436T>C (p.Asn812=)
5g.128357361A>TCA360767467FBN2c.2589T>A (p.Asn863Lys)
c.2490T>A (p.Asn830Lys)
c.2586T>A (p.Asn862Lys)
c.2436T>A (p.Asn812Lys)
5g.128357361dupCA2675118759FBN2c.2589dup (p.Gly864TrpfsTer13)
c.2490dup (p.Gly831TrpfsTer13)
c.2586dup (p.Gly863TrpfsTer13)
c.2436dup (p.Gly813TrpfsTer13)
 gnomAD v4
5g.128357362T>ACA360767469FBN2c.2588A>T (p.Asn863Ile)
c.2489A>T (p.Asn830Ile)
c.2585A>T (p.Asn862Ile)
c.2435A>T (p.Asn812Ile)
5g.128357362T>CCA3395494FBN2c.2588A>G (p.Asn863Ser)
c.2489A>G (p.Asn830Ser)
c.2585A>G (p.Asn862Ser)
c.2435A>G (p.Asn812Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357362T>GCA360767468FBN2c.2588A>C (p.Asn863Thr)
c.2489A>C (p.Asn830Thr)
c.2585A>C (p.Asn862Thr)
c.2435A>C (p.Asn812Thr)
5g.128357362T=CA1581282280FBN2c.2588A= (p.Asn863=)
c.2489A= (p.Asn830=)
c.2585A= (p.Asn862=)
c.2435A= (p.Asn812=)
5g.128357363T>ACA360767470FBN2c.2587A>T (p.Asn863Tyr)
c.2488A>T (p.Asn830Tyr)
c.2584A>T (p.Asn862Tyr)
c.2434A>T (p.Asn812Tyr)
5g.128357363T>CCA360767471FBN2c.2587A>G (p.Asn863Asp)
c.2488A>G (p.Asn830Asp)
c.2584A>G (p.Asn862Asp)
c.2434A>G (p.Asn812Asp)
5g.128357363T>GCA360767472FBN2c.2587A>C (p.Asn863His)
c.2488A>C (p.Asn830His)
c.2584A>C (p.Asn862His)
c.2434A>C (p.Asn812His)
5g.128357364G>ACA446312351FBN2c.2586C>T (p.Val862=)
c.2487C>T (p.Val829=)
c.2583C>T (p.Val861=)
c.2433C>T (p.Val811=)
5g.128357364G>CCA446312353FBN2c.2586C>G (p.Val862=)
c.2487C>G (p.Val829=)
c.2583C>G (p.Val861=)
c.2433C>G (p.Val811=)
5g.128357364G>TCA446312352FBN2c.2586C>A (p.Val862=)
c.2487C>A (p.Val829=)
c.2583C>A (p.Val861=)
c.2433C>A (p.Val811=)
5g.128357365A>CCA360767473FBN2c.2585T>G (p.Val862Gly)
c.2486T>G (p.Val829Gly)
c.2582T>G (p.Val861Gly)
c.2432T>G (p.Val811Gly)
5g.128357365A>GCA360767474FBN2c.2585T>C (p.Val862Ala)
c.2486T>C (p.Val829Ala)
c.2582T>C (p.Val861Ala)
c.2432T>C (p.Val811Ala)
5g.128357365A>TCA360767475FBN2c.2585T>A (p.Val862Asp)
c.2486T>A (p.Val829Asp)
c.2582T>A (p.Val861Asp)
c.2432T>A (p.Val811Asp)
5g.128357366C>ACA360767476FBN2c.2584G>T (p.Val862Phe)
c.2485G>T (p.Val829Phe)
c.2581G>T (p.Val861Phe)
c.2431G>T (p.Val811Phe)
 COSMIC COSMIC
5g.128357366C>GCA360767478FBN2c.2584G>C (p.Val862Leu)
c.2485G>C (p.Val829Leu)
c.2581G>C (p.Val861Leu)
c.2431G>C (p.Val811Leu)
5g.128357366C>TCA360767477FBN2c.2584G>A (p.Val862Ile)
c.2485G>A (p.Val829Ile)
c.2581G>A (p.Val861Ile)
c.2431G>A (p.Val811Ile)
 gnomAD v4
5g.128357367A>CCA360767479FBN2c.2583T>G (p.Cys861Trp)
c.2484T>G (p.Cys828Trp)
c.2580T>G (p.Cys860Trp)
c.2430T>G (p.Cys810Trp)
5g.128357367A>GCA446312355FBN2c.2583T>C (p.Cys861=)
c.2484T>C (p.Cys828=)
c.2580T>C (p.Cys860=)
c.2430T>C (p.Cys810=)
5g.128357367A>TCA360767480FBN2c.2583T>A (p.Cys861Ter)
c.2484T>A (p.Cys828Ter)
c.2580T>A (p.Cys860Ter)
c.2430T>A (p.Cys810Ter)
5g.128357368C>ACA360767481FBN2c.2582G>T (p.Cys861Phe)
c.2483G>T (p.Cys828Phe)
c.2579G>T (p.Cys860Phe)
c.2429G>T (p.Cys810Phe)
5g.128357368C>GCA360767482FBN2c.2582G>C (p.Cys861Ser)
c.2483G>C (p.Cys828Ser)
c.2579G>C (p.Cys860Ser)
c.2429G>C (p.Cys810Ser)
5g.128357368C>TCA360767483FBN2c.2582G>A (p.Cys861Tyr)
c.2483G>A (p.Cys828Tyr)
c.2579G>A (p.Cys860Tyr)
c.2429G>A (p.Cys810Tyr)
5g.128357369A>CCA360767484FBN2c.2581T>G (p.Cys861Gly)
c.2482T>G (p.Cys828Gly)
c.2578T>G (p.Cys860Gly)
c.2428T>G (p.Cys810Gly)
5g.128357369A>GCA360767485FBN2c.2581T>C (p.Cys861Arg)
c.2482T>C (p.Cys828Arg)
c.2578T>C (p.Cys860Arg)
c.2428T>C (p.Cys810Arg)
5g.128357369A>TCA360767486FBN2c.2581T>A (p.Cys861Ser)
c.2482T>A (p.Cys828Ser)
c.2578T>A (p.Cys860Ser)
c.2428T>A (p.Cys810Ser)
5g.128357370T>ACA446312356FBN2c.2580A>T (p.Pro860=)
c.2481A>T (p.Pro827=)
c.2577A>T (p.Pro859=)
c.2427A>T (p.Pro809=)
5g.128357370T>CCA446312357FBN2c.2580A>G (p.Pro860=)
c.2481A>G (p.Pro827=)
c.2577A>G (p.Pro859=)
c.2427A>G (p.Pro809=)
 dbSNP gnomAD v3 gnomAD v4
5g.128357370T>GCA446312358FBN2c.2580A>C (p.Pro860=)
c.2481A>C (p.Pro827=)
c.2577A>C (p.Pro859=)
c.2427A>C (p.Pro809=)
5g.128357370T=CA1581282281FBN2c.2580A= (p.Pro860=)
c.2481A= (p.Pro827=)
c.2577A= (p.Pro859=)
c.2427A= (p.Pro809=)
5g.128357371G>ACA360767487FBN2c.2579C>T (p.Pro860Leu)
c.2480C>T (p.Pro827Leu)
c.2576C>T (p.Pro859Leu)
c.2426C>T (p.Pro809Leu)
 dbSNP gnomAD v4
5g.128357371G>CCA360767488FBN2c.2579C>G (p.Pro860Arg)
c.2480C>G (p.Pro827Arg)
c.2576C>G (p.Pro859Arg)
c.2426C>G (p.Pro809Arg)
5g.128357371G=CA1581282282FBN2c.2579C= (p.Pro860=)
c.2480C= (p.Pro827=)
c.2576C= (p.Pro859=)
c.2426C= (p.Pro809=)
5g.128357371G>TCA360767489FBN2c.2579C>A (p.Pro860Gln)
c.2480C>A (p.Pro827Gln)
c.2576C>A (p.Pro859Gln)
c.2426C>A (p.Pro809Gln)
5g.128357372G>ACA360767490FBN2c.2578C>T (p.Pro860Ser)
c.2479C>T (p.Pro827Ser)
c.2575C>T (p.Pro859Ser)
c.2425C>T (p.Pro809Ser)
5g.128357372G>CCA360767492FBN2c.2578C>G (p.Pro860Ala)
c.2479C>G (p.Pro827Ala)
c.2575C>G (p.Pro859Ala)
c.2425C>G (p.Pro809Ala)
5g.128357372G>TCA360767491FBN2c.2578C>A (p.Pro860Thr)
c.2479C>A (p.Pro827Thr)
c.2575C>A (p.Pro859Thr)
c.2425C>A (p.Pro809Thr)
5g.128357372_128357373insCAGTTCTAACAGAATCTTTTCCTTCTGGATTGTAGATATAAATCA2768336270FBN2c.2577_2578insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro860IlefsTer31)
c.2478_2479insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro827IlefsTer31)
c.2574_2575insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro859IlefsTer31)
c.2424_2425insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG (p.Pro809IlefsTer31)
5g.128357373G>ACA446312359FBN2c.2577C>T (p.Asn859=)
c.2478C>T (p.Asn826=)
c.2574C>T (p.Asn858=)
c.2424C>T (p.Asn808=)
 COSMIC COSMIC
5g.128357373G>CCA360767493FBN2c.2577C>G (p.Asn859Lys)
c.2478C>G (p.Asn826Lys)
c.2574C>G (p.Asn858Lys)
c.2424C>G (p.Asn808Lys)
5g.128357373G>TCA360767494FBN2c.2577C>A (p.Asn859Lys)
c.2478C>A (p.Asn826Lys)
c.2574C>A (p.Asn858Lys)
c.2424C>A (p.Asn808Lys)
5g.128357374T>ACA360767495FBN2c.2576A>T (p.Asn859Ile)
c.2477A>T (p.Asn826Ile)
c.2573A>T (p.Asn858Ile)
c.2423A>T (p.Asn808Ile)
5g.128357374T>CCA360767497FBN2c.2576A>G (p.Asn859Ser)
c.2477A>G (p.Asn826Ser)
c.2573A>G (p.Asn858Ser)
c.2423A>G (p.Asn808Ser)
 gnomAD v4
5g.128357374T>GCA360767496FBN2c.2576A>C (p.Asn859Thr)
c.2477A>C (p.Asn826Thr)
c.2573A>C (p.Asn858Thr)
c.2423A>C (p.Asn808Thr)
5g.128357375T>ACA360767498FBN2c.2575A>T (p.Asn859Tyr)
c.2476A>T (p.Asn826Tyr)
c.2572A>T (p.Asn858Tyr)
c.2422A>T (p.Asn808Tyr)
5g.128357375T>CCA360767499FBN2c.2575A>G (p.Asn859Asp)
c.2476A>G (p.Asn826Asp)
c.2572A>G (p.Asn858Asp)
c.2422A>G (p.Asn808Asp)
 COSMIC COSMIC
5g.128357375T>GCA360767500FBN2c.2575A>C (p.Asn859His)
c.2476A>C (p.Asn826His)
c.2572A>C (p.Asn858His)
c.2422A>C (p.Asn808His)
5g.128357376G>ACA446312360FBN2c.2574C>T (p.Ser858=)
c.2475C>T (p.Ser825=)
c.2571C>T (p.Ser857=)
c.2421C>T (p.Ser807=)
 dbSNP
5g.128357376G>CCA360767501FBN2c.2574C>G (p.Ser858Arg)
c.2475C>G (p.Ser825Arg)
c.2571C>G (p.Ser857Arg)
c.2421C>G (p.Ser807Arg)
5g.128357376G=CA1581282283FBN2c.2574C= (p.Ser858=)
c.2475C= (p.Ser825=)
c.2571C= (p.Ser857=)
c.2421C= (p.Ser807=)
5g.128357376G>TCA360767502FBN2c.2574C>A (p.Ser858Arg)
c.2475C>A (p.Ser825Arg)
c.2571C>A (p.Ser857Arg)
c.2421C>A (p.Ser807Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.128357377C>ACA360767503FBN2c.2573G>T (p.Ser858Ile)
c.2474G>T (p.Ser825Ile)
c.2570G>T (p.Ser857Ile)
c.2420G>T (p.Ser807Ile)
5g.128357377C=CA1581282284FBN2c.2573G= (p.Ser858=)
c.2474G= (p.Ser825=)
c.2570G= (p.Ser857=)
c.2420G= (p.Ser807=)
5g.128357377C>GCA360767504FBN2c.2573G>C (p.Ser858Thr)
c.2474G>C (p.Ser825Thr)
c.2570G>C (p.Ser857Thr)
c.2420G>C (p.Ser807Thr)
5g.128357377C>TCA360767505FBN2c.2573G>A (p.Ser858Asn)
c.2474G>A (p.Ser825Asn)
c.2570G>A (p.Ser857Asn)
c.2420G>A (p.Ser807Asn)
 dbSNP gnomAD v4
5g.128357378T>ACA360767506FBN2c.2572A>T (p.Ser858Cys)
c.2473A>T (p.Ser825Cys)
c.2569A>T (p.Ser857Cys)
c.2419A>T (p.Ser807Cys)
5g.128357378T>CCA3395495FBN2c.2572A>G (p.Ser858Gly)
c.2473A>G (p.Ser825Gly)
c.2569A>G (p.Ser857Gly)
c.2419A>G (p.Ser807Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128357378T>GCA360767507FBN2c.2572A>C (p.Ser858Arg)
c.2473A>C (p.Ser825Arg)
c.2569A>C (p.Ser857Arg)
c.2419A>C (p.Ser807Arg)
5g.128357378T=CA1581282285FBN2c.2572A= (p.Ser858=)
c.2473A= (p.Ser825=)
c.2569A= (p.Ser857=)
c.2419A= (p.Ser807=)
5g.128357379T>ACA360767508FBN2c.2571A>T (p.Glu857Asp)
c.2472A>T (p.Glu824Asp)
c.2568A>T (p.Glu856Asp)
c.2418A>T (p.Glu806Asp)
5g.128357379T>CCA446312362FBN2c.2571A>G (p.Glu857=)
c.2472A>G (p.Glu824=)
c.2568A>G (p.Glu856=)
c.2418A>G (p.Glu806=)
5g.128357379T>GCA360767509FBN2c.2571A>C (p.Glu857Asp)
c.2472A>C (p.Glu824Asp)
c.2568A>C (p.Glu856Asp)
c.2418A>C (p.Glu806Asp)
5g.128357380T>ACA360767512FBN2c.2570A>T (p.Glu857Val)
c.2471A>T (p.Glu824Val)
c.2567A>T (p.Glu856Val)
c.2417A>T (p.Glu806Val)
5g.128357380T>CCA360767511FBN2c.2570A>G (p.Glu857Gly)
c.2471A>G (p.Glu824Gly)
c.2567A>G (p.Glu856Gly)
c.2417A>G (p.Glu806Gly)
5g.128357380T>GCA360767510FBN2c.2570A>C (p.Glu857Ala)
c.2471A>C (p.Glu824Ala)
c.2567A>C (p.Glu856Ala)
c.2417A>C (p.Glu806Ala)
5g.128357381C>ACA360767513FBN2c.2569G>T (p.Glu857Ter)
c.2470G>T (p.Glu824Ter)
c.2566G>T (p.Glu856Ter)
c.2416G>T (p.Glu806Ter)
5g.128357381C>GCA360767514FBN2c.2569G>C (p.Glu857Gln)
c.2470G>C (p.Glu824Gln)
c.2566G>C (p.Glu856Gln)
c.2416G>C (p.Glu806Gln)
5g.128357381C>TCA360767515FBN2c.2569G>A (p.Glu857Lys)
c.2470G>A (p.Glu824Lys)
c.2566G>A (p.Glu856Lys)
c.2416G>A (p.Glu806Lys)
5g.128357382A>CCA360767516FBN2c.2568T>G (p.Cys856Trp)
c.2469T>G (p.Cys823Trp)
c.2565T>G (p.Cys855Trp)
c.2415T>G (p.Cys805Trp)
5g.128357382A>GCA446312363FBN2c.2568T>C (p.Cys856=)
c.2469T>C (p.Cys823=)
c.2565T>C (p.Cys855=)
c.2415T>C (p.Cys805=)
5g.128357382A>TCA360767517FBN2c.2568T>A (p.Cys856Ter)
c.2469T>A (p.Cys823Ter)
c.2565T>A (p.Cys855Ter)
c.2415T>A (p.Cys805Ter)
5g.128357383C>ACA360767518FBN2c.2567G>T (p.Cys856Phe)
c.2468G>T (p.Cys823Phe)
c.2564G>T (p.Cys855Phe)
c.2414G>T (p.Cys805Phe)
5g.128357383C>GCA360767519FBN2c.2567G>C (p.Cys856Ser)
c.2468G>C (p.Cys823Ser)
c.2564G>C (p.Cys855Ser)
c.2414G>C (p.Cys805Ser)
5g.128357383C>TCA360767520FBN2c.2567G>A (p.Cys856Tyr)
c.2468G>A (p.Cys823Tyr)
c.2564G>A (p.Cys855Tyr)
c.2414G>A (p.Cys805Tyr)
5g.128357384A>CCA360767521FBN2c.2566T>G (p.Cys856Gly)
c.2467T>G (p.Cys823Gly)
c.2563T>G (p.Cys855Gly)
c.2413T>G (p.Cys805Gly)
 gnomAD v4
5g.128357384A>GCA360767522FBN2c.2566T>C (p.Cys856Arg)
c.2467T>C (p.Cys823Arg)
c.2563T>C (p.Cys855Arg)
c.2413T>C (p.Cys805Arg)
5g.128357384A>TCA360767523FBN2c.2566T>A (p.Cys856Ser)
c.2467T>A (p.Cys823Ser)
c.2563T>A (p.Cys855Ser)
c.2413T>A (p.Cys805Ser)
5g.128357385T>ACA360767524FBN2c.2565A>T (p.Glu855Asp)
c.2466A>T (p.Glu822Asp)
c.2562A>T (p.Glu854Asp)
c.2412A>T (p.Glu804Asp)
5g.128357385T>CCA446312364FBN2c.2565A>G (p.Glu855=)
c.2466A>G (p.Glu822=)
c.2562A>G (p.Glu854=)
c.2412A>G (p.Glu804=)
5g.128357385T>GCA360767525FBN2c.2565A>C (p.Glu855Asp)
c.2466A>C (p.Glu822Asp)
c.2562A>C (p.Glu854Asp)
c.2412A>C (p.Glu804Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128357385T=CA1581282286FBN2c.2565A= (p.Glu855=)
c.2466A= (p.Glu822=)
c.2562A= (p.Glu854=)
c.2412A= (p.Glu804=)
5g.128357386T>ACA360767527FBN2c.2564A>T (p.Glu855Val)
c.2465A>T (p.Glu822Val)
c.2561A>T (p.Glu854Val)
c.2411A>T (p.Glu804Val)
5g.128357386T>CCA360767528FBN2c.2564A>G (p.Glu855Gly)
c.2465A>G (p.Glu822Gly)
c.2561A>G (p.Glu854Gly)
c.2411A>G (p.Glu804Gly)
5g.128357386T>GCA360767526FBN2c.2564A>C (p.Glu855Ala)
c.2465A>C (p.Glu822Ala)
c.2561A>C (p.Glu854Ala)
c.2411A>C (p.Glu804Ala)
5g.128357387C>ACA360767529FBN2c.2563G>T (p.Glu855Ter)
c.2464G>T (p.Glu822Ter)
c.2560G>T (p.Glu854Ter)
c.2410G>T (p.Glu804Ter)
5g.128357387C>GCA360767530FBN2c.2563G>C (p.Glu855Gln)
c.2464G>C (p.Glu822Gln)
c.2560G>C (p.Glu854Gln)
c.2410G>C (p.Glu804Gln)
5g.128357387C>TCA360767531FBN2c.2563G>A (p.Glu855Lys)
c.2464G>A (p.Glu822Lys)
c.2560G>A (p.Glu854Lys)
c.2410G>A (p.Glu804Lys)
 gnomAD v4
5g.128357388A>CCA360767532FBN2c.2562T>G (p.Asn854Lys)
c.2463T>G (p.Asn821Lys)
c.2559T>G (p.Asn853Lys)
c.2409T>G (p.Asn803Lys)
5g.128357388A>GCA446312365FBN2c.2562T>C (p.Asn854=)
c.2463T>C (p.Asn821=)
c.2559T>C (p.Asn853=)
c.2409T>C (p.Asn803=)
5g.128357388A>TCA360767533FBN2c.2562T>A (p.Asn854Lys)
c.2463T>A (p.Asn821Lys)
c.2559T>A (p.Asn853Lys)
c.2409T>A (p.Asn803Lys)
5g.128357390_128357393delCA2675118760FBN2c.2559_2562del (p.Ile853MetfsTer?)
c.2460_2463del (p.Ile820MetfsTer?)
c.2556_2559del (p.Ile852MetfsTer?)
c.2406_2409del (p.Ile802MetfsTer?)
 gnomAD v4
5g.128357389T>ACA360767534FBN2c.2561A>T (p.Asn854Ile)
c.2462A>T (p.Asn821Ile)
c.2558A>T (p.Asn853Ile)
c.2408A>T (p.Asn803Ile)
5g.128357389T>CCA360767535FBN2c.2561A>G (p.Asn854Ser)
c.2462A>G (p.Asn821Ser)
c.2558A>G (p.Asn853Ser)
c.2408A>G (p.Asn803Ser)
 gnomAD v4
5g.128357389T>GCA360767536FBN2c.2561A>C (p.Asn854Thr)
c.2462A>C (p.Asn821Thr)
c.2558A>C (p.Asn853Thr)
c.2408A>C (p.Asn803Thr)
5g.128357390T>ACA360767537FBN2c.2560A>T (p.Asn854Tyr)
c.2461A>T (p.Asn821Tyr)
c.2557A>T (p.Asn853Tyr)
c.2407A>T (p.Asn803Tyr)
5g.128357390T>CCA3395496FBN2c.2560A>G (p.Asn854Asp)
c.2461A>G (p.Asn821Asp)
c.2557A>G (p.Asn853Asp)
c.2407A>G (p.Asn803Asp)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.128357390T>GCA360767538FBN2c.2560A>C (p.Asn854His)
c.2461A>C (p.Asn821His)
c.2557A>C (p.Asn853His)
c.2407A>C (p.Asn803His)
5g.128357390T=CA1581282287FBN2c.2560A= (p.Asn854=)
c.2461A= (p.Asn821=)
c.2557A= (p.Asn853=)
c.2407A= (p.Asn803=)
5g.128357391T>ACA446312366FBN2c.2559A>T (p.Ile853=)
c.2460A>T (p.Ile820=)
c.2556A>T (p.Ile852=)
c.2406A>T (p.Ile802=)
5g.128357391T>CCA360767539FBN2c.2559A>G (p.Ile853Met)
c.2460A>G (p.Ile820Met)
c.2556A>G (p.Ile852Met)
c.2406A>G (p.Ile802Met)
 gnomAD v4 COSMIC COSMIC
5g.128357391T>GCA446312368FBN2c.2559A>C (p.Ile853=)
c.2460A>C (p.Ile820=)
c.2556A>C (p.Ile852=)
c.2406A>C (p.Ile802=)
5g.128357392A=CA1581282288FBN2c.2558T= (p.Ile853=)
c.2459T= (p.Ile820=)
c.2555T= (p.Ile852=)
c.2405T= (p.Ile802=)
5g.128357392A>CCA360767541FBN2c.2558T>G (p.Ile853Arg)
c.2459T>G (p.Ile820Arg)
c.2555T>G (p.Ile852Arg)
c.2405T>G (p.Ile802Arg)
5g.128357392A>GCA3395497FBN2c.2558T>C (p.Ile853Thr)
c.2459T>C (p.Ile820Thr)
c.2555T>C (p.Ile852Thr)
c.2405T>C (p.Ile802Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357392A>TCA360767540FBN2c.2558T>A (p.Ile853Lys)
c.2459T>A (p.Ile820Lys)
c.2555T>A (p.Ile852Lys)
c.2405T>A (p.Ile802Lys)
5g.128357393T>ACA3395500FBN2c.2557A>T (p.Ile853Leu)
c.2458A>T (p.Ile820Leu)
c.2554A>T (p.Ile852Leu)
c.2404A>T (p.Ile802Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128357393T>CCA3395499FBN2c.2557A>G (p.Ile853Val)
c.2458A>G (p.Ile820Val)
c.2554A>G (p.Ile852Val)
c.2404A>G (p.Ile802Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357393T>GCA3395498FBN2c.2557A>C (p.Ile853Leu)
c.2458A>C (p.Ile820Leu)
c.2554A>C (p.Ile852Leu)
c.2404A>C (p.Ile802Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357393T=CA1581282289FBN2c.2557A= (p.Ile853=)
c.2458A= (p.Ile820=)
c.2554A= (p.Ile852=)
c.2404A= (p.Ile802=)
5g.128357394A>CCA360767542FBN2c.2556T>G (p.Asp852Glu)
c.2457T>G (p.Asp819Glu)
c.2553T>G (p.Asp851Glu)
c.2403T>G (p.Asp801Glu)
5g.128357394A>GCA446312369FBN2c.2556T>C (p.Asp852=)
c.2457T>C (p.Asp819=)
c.2553T>C (p.Asp851=)
c.2403T>C (p.Asp801=)
 ClinVar dbSNP
5g.128357394A>TCA360767543FBN2c.2556T>A (p.Asp852Glu)
c.2457T>A (p.Asp819Glu)
c.2553T>A (p.Asp851Glu)
c.2403T>A (p.Asp801Glu)
5g.128357395T>ACA360767544FBN2c.2555A>T (p.Asp852Val)
c.2456A>T (p.Asp819Val)
c.2552A>T (p.Asp851Val)
c.2402A>T (p.Asp801Val)
5g.128357395T>CCA360767545FBN2c.2555A>G (p.Asp852Gly)
c.2456A>G (p.Asp819Gly)
c.2552A>G (p.Asp851Gly)
c.2402A>G (p.Asp801Gly)
 dbSNP gnomAD v4
5g.128357395T>GCA360767546FBN2c.2555A>C (p.Asp852Ala)
c.2456A>C (p.Asp819Ala)
c.2552A>C (p.Asp851Ala)
c.2402A>C (p.Asp801Ala)
5g.128357395T=CA1581282290FBN2c.2555A= (p.Asp852=)
c.2456A= (p.Asp819=)
c.2552A= (p.Asp851=)
c.2402A= (p.Asp801=)
5g.128357396C>ACA360767547FBN2c.2555-1G>T (n.2555-1G>T)
c.2456-1G>T (n.2456-1G>T)
c.2552-1G>T (n.2552-1G>T)
c.2402-1G>T (n.2402-1G>T)
5g.128357396C=CA1581282291FBN2c.2555-1G= (n.2555-1G=)
c.2456-1G= (n.2456-1G=)
c.2552-1G= (n.2552-1G=)
c.2402-1G= (n.2402-1G=)
5g.128357396C>GCA360767548FBN2c.2555-1G>C (n.2555-1G>C)
c.2456-1G>C (n.2456-1G>C)
c.2552-1G>C (n.2552-1G>C)
c.2402-1G>C (n.2402-1G>C)
 dbSNP
5g.128357396C>TCA360767549FBN2c.2555-1G>A (n.2555-1G>A)
c.2456-1G>A (n.2456-1G>A)
c.2552-1G>A (n.2552-1G>A)
c.2402-1G>A (n.2402-1G>A)
5g.128357397T>ACA360767552FBN2c.2555-2A>T (n.2555-2A>T)
c.2456-2A>T (n.2456-2A>T)
c.2552-2A>T (n.2552-2A>T)
c.2402-2A>T (n.2402-2A>T)
5g.128357397T>CCA360767551FBN2c.2555-2A>G (n.2555-2A>G)
c.2456-2A>G (n.2456-2A>G)
c.2552-2A>G (n.2552-2A>G)
c.2402-2A>G (n.2402-2A>G)
5g.128357397T>GCA360767550FBN2c.2555-2A>C (n.2555-2A>C)
c.2456-2A>C (n.2456-2A>C)
c.2552-2A>C (n.2552-2A>C)
c.2402-2A>C (n.2402-2A>C)
5g.128357399C>TCA2562048175FBN2c.2555-4G>A (n.2555-4G>A)
c.2456-4G>A (n.2456-4G>A)
c.2552-4G>A (n.2552-4G>A)
c.2402-4G>A (n.2402-4G>A)
5g.128357401A=CA1581282293FBN2c.2555-6T= (n.2555-6T=)
c.2456-6T= (n.2456-6T=)
c.2552-6T= (n.2552-6T=)
c.2402-6T= (n.2402-6T=)
5g.128357401A>GCA3395501FBN2c.2555-6T>C (n.2555-6T>C)
c.2456-6T>C (n.2456-6T>C)
c.2552-6T>C (n.2552-6T>C)
c.2402-6T>C (n.2402-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357401A>TCA1581282292FBN2c.2555-6T>A (n.2555-6T>A)
c.2456-6T>A (n.2456-6T>A)
c.2552-6T>A (n.2552-6T>A)
c.2402-6T>A (n.2402-6T>A)
 dbSNP gnomAD v4
5g.128357402T>ACA562717648FBN2c.2555-7A>T (n.2555-7A>T)
c.2456-7A>T (n.2456-7A>T)
c.2552-7A>T (n.2552-7A>T)
c.2402-7A>T (n.2402-7A>T)
 dbSNP gnomAD v2 gnomAD v4
5g.128357402T>CCA290863FBN2c.2555-7A>G (n.2555-7A>G)
c.2456-7A>G (n.2456-7A>G)
c.2552-7A>G (n.2552-7A>G)
c.2402-7A>G (n.2402-7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357402T=CA1581282294FBN2c.2555-7A= (n.2555-7A=)
c.2456-7A= (n.2456-7A=)
c.2552-7A= (n.2552-7A=)
c.2402-7A= (n.2402-7A=)
5g.128357403C>ACA2499217546FBN2c.2555-8G>T (n.2555-8G>T)
c.2456-8G>T (n.2456-8G>T)
c.2552-8G>T (n.2552-8G>T)
c.2402-8G>T (n.2402-8G>T)
 ClinVar dbSNP gnomAD v4
5g.128357403C>TCA2578396482FBN2c.2555-8G>A (n.2555-8G>A)
c.2456-8G>A (n.2456-8G>A)
c.2552-8G>A (n.2552-8G>A)
c.2402-8G>A (n.2402-8G>A)
5g.128357407A>TCA2675118761FBN2c.2555-12T>A (n.2555-12T>A)
c.2456-12T>A (n.2456-12T>A)
c.2552-12T>A (n.2552-12T>A)
c.2402-12T>A (n.2402-12T>A)
 gnomAD v4
5g.128357409G>ACA2675118762FBN2c.2555-14C>T (n.2555-14C>T)
c.2456-14C>T (n.2456-14C>T)
c.2552-14C>T (n.2552-14C>T)
c.2402-14C>T (n.2402-14C>T)
 gnomAD v4
5g.128357409G=CA1581282295FBN2c.2555-14C= (n.2555-14C=)
c.2456-14C= (n.2456-14C=)
c.2552-14C= (n.2552-14C=)
c.2402-14C= (n.2402-14C=)
5g.128357409G>TCA1581282296FBN2c.2555-14C>A (n.2555-14C>A)
c.2456-14C>A (n.2456-14C>A)
c.2552-14C>A (n.2552-14C>A)
c.2402-14C>A (n.2402-14C>A)
 dbSNP
5g.128357415G>CCA3395502FBN2c.2555-20C>G (n.2555-20C>G)
c.2456-20C>G (n.2456-20C>G)
c.2552-20C>G (n.2552-20C>G)
c.2402-20C>G (n.2402-20C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128357415G=CA1581282298FBN2c.2555-20C= (n.2555-20C=)
c.2456-20C= (n.2456-20C=)
c.2552-20C= (n.2552-20C=)
c.2402-20C= (n.2402-20C=)
5g.128357415G>TCA1581282297FBN2c.2555-20C>A (n.2555-20C>A)
c.2456-20C>A (n.2456-20C>A)
c.2552-20C>A (n.2552-20C>A)
c.2402-20C>A (n.2402-20C>A)
 dbSNP gnomAD v4
5g.128357417_128357419delinsTTCCA1581282299FBN2c.2555-24_2555-22delinsGAA (n.2555-24_2555-22delinsGAA)
c.2456-24_2456-22delinsGAA (n.2456-24_2456-22delinsGAA)
c.2552-24_2552-22delinsGAA (n.2552-24_2552-22delinsGAA)
c.2402-24_2402-22delinsGAA (n.2402-24_2402-22delinsGAA)
5g.128357418T>ACA2675118763FBN2c.2555-23A>T (n.2555-23A>T)
c.2456-23A>T (n.2456-23A>T)
c.2552-23A>T (n.2552-23A>T)
c.2402-23A>T (n.2402-23A>T)
 gnomAD v4
5g.128357419_128357420delCA562717649FBN2c.2555-24_2555-23del (n.2555-24_2555-23del)
c.2456-24_2456-23del (n.2456-24_2456-23del)
c.2552-24_2552-23del (n.2552-24_2552-23del)
c.2402-24_2402-23del (n.2402-24_2402-23del)
 dbSNP gnomAD v2 gnomAD v4
5g.128357421G>ACA562717650FBN2c.2555-26C>T (n.2555-26C>T)
c.2456-26C>T (n.2456-26C>T)
c.2552-26C>T (n.2552-26C>T)
c.2402-26C>T (n.2402-26C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.128357421G>CCA2675118764FBN2c.2555-26C>G (n.2555-26C>G)
c.2456-26C>G (n.2456-26C>G)
c.2552-26C>G (n.2552-26C>G)
c.2402-26C>G (n.2402-26C>G)
 gnomAD v4
5g.128357421G=CA1581282300FBN2c.2555-26C= (n.2555-26C=)
c.2456-26C= (n.2456-26C=)
c.2552-26C= (n.2552-26C=)
c.2402-26C= (n.2402-26C=)

Number of alleles fetched