Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7554938_7554941dupCA2576598025PNPLA6c.2680_2683dup (p.Val895AlafsTer?)
c.2566_2569dup (p.Val857AlafsTer?)
c.2710_2713dup (p.Val905AlafsTer?)
c.2485_2488dup (p.Val830AlafsTer?)
19g.7554939_7554946delCA993164312PNPLA6c.2681_2688del (p.Leu894ProfsTer?)
c.2567_2574del (p.Leu856ProfsTer?)
c.2711_2718del (p.Leu904ProfsTer?)
c.2486_2493del (p.Leu829ProfsTer?)
 gnomAD v3 gnomAD v4
19g.7554941delCA2587956030PNPLA6c.2683del (p.Val895SerfsTer18)
c.2569del (p.Val857SerfsTer18)
c.2713del (p.Val905SerfsTer18)
c.2488del (p.Val830SerfsTer18)
 gnomAD v4
19g.7554941G>ACA403129477PNPLA6c.2683G>A (p.Val895Ile)
c.2569G>A (p.Val857Ile)
c.2713G>A (p.Val905Ile)
c.2488G>A (p.Val830Ile)
 gnomAD v4
19g.7554941G>CCA403129478PNPLA6c.2683G>C (p.Val895Leu)
c.2569G>C (p.Val857Leu)
c.2713G>C (p.Val905Leu)
c.2488G>C (p.Val830Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.7554941G=CA2320976354PNPLA6c.2683G= (p.Val895=)
c.2569G= (p.Val857=)
c.2713G= (p.Val905=)
c.2488G= (p.Val830=)
19g.7554941G>TCA403129479PNPLA6c.2683G>T (p.Val895Phe)
c.2569G>T (p.Val857Phe)
c.2713G>T (p.Val905Phe)
c.2488G>T (p.Val830Phe)
 gnomAD v4
19g.7554942_7554946delCA2695198116PNPLA6c.2684_2688del (p.Val895AlafsTer?)
c.2570_2574del (p.Val857AlafsTer?)
c.2714_2718del (p.Val905AlafsTer?)
c.2489_2493del (p.Val830AlafsTer?)
 ClinVar
19g.7554941_7554948delCA993164333PNPLA6c.2683_2690del (p.Val895ProfsTer?)
c.2569_2576del (p.Val857ProfsTer?)
c.2713_2720del (p.Val905ProfsTer?)
c.2488_2495del (p.Val830ProfsTer?)
 gnomAD v3 gnomAD v4
19g.7554942T>ACA403129480PNPLA6c.2684T>A (p.Val895Asp)
c.2570T>A (p.Val857Asp)
c.2714T>A (p.Val905Asp)
c.2489T>A (p.Val830Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7554942T>CCA9140202PNPLA6c.2684T>C (p.Val895Ala)
c.2570T>C (p.Val857Ala)
c.2714T>C (p.Val905Ala)
c.2489T>C (p.Val830Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7554942T>GCA403129489PNPLA6c.2684T>G (p.Val895Gly)
c.2570T>G (p.Val857Gly)
c.2714T>G (p.Val905Gly)
c.2489T>G (p.Val830Gly)
 gnomAD v4
19g.7554942T=CA2320976355PNPLA6c.2684T= (p.Val895=)
c.2570T= (p.Val857=)
c.2714T= (p.Val905=)
c.2489T= (p.Val830=)
19g.7554943_7554945delCA2813477606PNPLA6c.2685_2687del (p.Leu896del)
c.2571_2573del (p.Leu858del)
c.2715_2717del (p.Leu906del)
c.2490_2492del (p.Leu831del)
19g.7554942_7554943insGAGACA993164339PNPLA6c.2684_2685insGAGA (p.Leu896ArgfsTer?)
c.2570_2571insGAGA (p.Leu858ArgfsTer?)
c.2714_2715insGAGA (p.Leu906ArgfsTer?)
c.2489_2490insGAGA (p.Leu831ArgfsTer?)
 gnomAD v3 gnomAD v4
19g.7554943C>ACA505404201PNPLA6c.2685C>A (p.Val895=)
c.2571C>A (p.Val857=)
c.2715C>A (p.Val905=)
c.2490C>A (p.Val830=)
 gnomAD v4
19g.7554943C=CA2320976356PNPLA6c.2685C= (p.Val895=)
c.2571C= (p.Val857=)
c.2715C= (p.Val905=)
c.2490C= (p.Val830=)
19g.7554943C>GCA505404202PNPLA6c.2685C>G (p.Val895=)
c.2571C>G (p.Val857=)
c.2715C>G (p.Val905=)
c.2490C>G (p.Val830=)
19g.7554943C>TCA505404203PNPLA6c.2685C>T (p.Val895=)
c.2571C>T (p.Val857=)
c.2715C>T (p.Val905=)
c.2490C>T (p.Val830=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7554944C>ACA403129493PNPLA6c.2686C>A (p.Leu896Met)
c.2572C>A (p.Leu858Met)
c.2716C>A (p.Leu906Met)
c.2491C>A (p.Leu831Met)
 gnomAD v4
19g.7554944C=CA2320976357PNPLA6c.2686C= (p.Leu896=)
c.2572C= (p.Leu858=)
c.2716C= (p.Leu906=)
c.2491C= (p.Leu831=)
19g.7554944C>GCA403129498PNPLA6c.2686C>G (p.Leu896Val)
c.2572C>G (p.Leu858Val)
c.2716C>G (p.Leu906Val)
c.2491C>G (p.Leu831Val)
 gnomAD v3 gnomAD v4
19g.7554944C>TCA505404204PNPLA6c.2686C>T (p.Leu896=)
c.2572C>T (p.Leu858=)
c.2716C>T (p.Leu906=)
c.2491C>T (p.Leu831=)
 dbSNP gnomAD v4
19g.7554945T>ACA403129506PNPLA6c.2687T>A (p.Leu896Gln)
c.2573T>A (p.Leu858Gln)
c.2717T>A (p.Leu906Gln)
c.2492T>A (p.Leu831Gln)
19g.7554945T>CCA9140203PNPLA6c.2687T>C (p.Leu896Pro)
c.2573T>C (p.Leu858Pro)
c.2717T>C (p.Leu906Pro)
c.2492T>C (p.Leu831Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7554945T>GCA403129508PNPLA6c.2687T>G (p.Leu896Arg)
c.2573T>G (p.Leu858Arg)
c.2717T>G (p.Leu906Arg)
c.2492T>G (p.Leu831Arg)
 gnomAD v3 gnomAD v4
19g.7554945T=CA2320976358PNPLA6c.2687T= (p.Leu896=)
c.2573T= (p.Leu858=)
c.2717T= (p.Leu906=)
c.2492T= (p.Leu831=)
19g.7554946G>ACA9140204PNPLA6c.2688G>A (p.Leu896=)
c.2574G>A (p.Leu858=)
c.2718G>A (p.Leu906=)
c.2493G>A (p.Leu831=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7554946G>CCA9140205PNPLA6c.2688G>C (p.Leu896=)
c.2574G>C (p.Leu858=)
c.2718G>C (p.Leu906=)
c.2493G>C (p.Leu831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7554946G=CA2320976359PNPLA6c.2688G= (p.Leu896=)
c.2574G= (p.Leu858=)
c.2718G= (p.Leu906=)
c.2493G= (p.Leu831=)
19g.7554946G>TCA505404205PNPLA6c.2688G>T (p.Leu896=)
c.2574G>T (p.Leu858=)
c.2718G>T (p.Leu906=)
c.2493G>T (p.Leu831=)
 gnomAD v4
19g.7554946_7554947insATACGGCCA2813477609PNPLA6c.2688_2689insATACGGC (p.Leu897IlefsTer?)
c.2574_2575insATACGGC (p.Leu859IlefsTer?)
c.2718_2719insATACGGC (p.Leu907IlefsTer?)
c.2493_2494insATACGGC (p.Leu832IlefsTer?)
19g.7554947C>ACA403129514PNPLA6c.2689C>A (p.Leu897Ile)
c.2575C>A (p.Leu859Ile)
c.2719C>A (p.Leu907Ile)
c.2494C>A (p.Leu832Ile)
 gnomAD v4
19g.7554947C=CA2320976360PNPLA6c.2689C= (p.Leu897=)
c.2575C= (p.Leu859=)
c.2719C= (p.Leu907=)
c.2494C= (p.Leu832=)
19g.7554947C>GCA403129516PNPLA6c.2689C>G (p.Leu897Val)
c.2575C>G (p.Leu859Val)
c.2719C>G (p.Leu907Val)
c.2494C>G (p.Leu832Val)
 gnomAD v3 gnomAD v4
19g.7554947C>TCA403129517PNPLA6c.2689C>T (p.Leu897Phe)
c.2575C>T (p.Leu859Phe)
c.2719C>T (p.Leu907Phe)
c.2494C>T (p.Leu832Phe)
 dbSNP gnomAD v2 gnomAD v4
19g.7554947_7554948insGCA2587956031PNPLA6c.2689_2690insG (p.Leu897ArgfsTer?)
c.2575_2576insG (p.Leu859ArgfsTer?)
c.2719_2720insG (p.Leu907ArgfsTer?)
c.2494_2495insG (p.Leu832ArgfsTer?)
 gnomAD v4
19g.7554948T>ACA403129519PNPLA6c.2690T>A (p.Leu897His)
c.2576T>A (p.Leu859His)
c.2720T>A (p.Leu907His)
c.2495T>A (p.Leu832His)
 gnomAD v3 gnomAD v4
19g.7554948T>CCA403129522PNPLA6c.2690T>C (p.Leu897Pro)
c.2576T>C (p.Leu859Pro)
c.2720T>C (p.Leu907Pro)
c.2495T>C (p.Leu832Pro)
 gnomAD v4
19g.7554948T>GCA403129525PNPLA6c.2690T>G (p.Leu897Arg)
c.2576T>G (p.Leu859Arg)
c.2720T>G (p.Leu907Arg)
c.2495T>G (p.Leu832Arg)
19g.7554948_7554949insACGGCGACA2587956032PNPLA6c.2690_2691insACGGCGA (p.His898ArgfsTer?)
c.2576_2577insACGGCGA (p.His860ArgfsTer?)
c.2720_2721insACGGCGA (p.His908ArgfsTer?)
c.2495_2496insACGGCGA (p.His833ArgfsTer?)
 gnomAD v4
19g.7554948_7554949insACGGGGACA2587956033PNPLA6c.2690_2691insACGGGGA (p.His898ArgfsTer?)
c.2576_2577insACGGGGA (p.His860ArgfsTer?)
c.2720_2721insACGGGGA (p.His908ArgfsTer?)
c.2495_2496insACGGGGA (p.His833ArgfsTer?)
 gnomAD v4
19g.7554949C>ACA505404206PNPLA6c.2691C>A (p.Leu897=)
c.2577C>A (p.Leu859=)
c.2721C>A (p.Leu907=)
c.2496C>A (p.Leu832=)
 gnomAD v4
19g.7554949C>GCA505404208PNPLA6c.2691C>G (p.Leu897=)
c.2577C>G (p.Leu859=)
c.2721C>G (p.Leu907=)
c.2496C>G (p.Leu832=)
19g.7554949C>TCA505404207PNPLA6c.2691C>T (p.Leu897=)
c.2577C>T (p.Leu859=)
c.2721C>T (p.Leu907=)
c.2496C>T (p.Leu832=)
19g.7554950delCA2587956034PNPLA6c.2692del (p.His898ThrfsTer15)
c.2578del (p.His860ThrfsTer15)
c.2722del (p.His908ThrfsTer15)
c.2497del (p.His833ThrfsTer15)
 gnomAD v4
19g.7554950C>ACA403129536PNPLA6c.2692C>A (p.His898Asn)
c.2578C>A (p.His860Asn)
c.2722C>A (p.His908Asn)
c.2497C>A (p.His833Asn)
 gnomAD v4
19g.7554950C=CA2320976361PNPLA6c.2692C= (p.His898=)
c.2578C= (p.His860=)
c.2722C= (p.His908=)
c.2497C= (p.His833=)
19g.7554950C>GCA403129534PNPLA6c.2692C>G (p.His898Asp)
c.2578C>G (p.His860Asp)
c.2722C>G (p.His908Asp)
c.2497C>G (p.His833Asp)
 gnomAD v4
19g.7554950C>TCA403129529PNPLA6c.2692C>T (p.His898Tyr)
c.2578C>T (p.His860Tyr)
c.2722C>T (p.His908Tyr)
c.2497C>T (p.His833Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7554951A>CCA403129539PNPLA6c.2693A>C (p.His898Pro)
c.2579A>C (p.His860Pro)
c.2723A>C (p.His908Pro)
c.2498A>C (p.His833Pro)
19g.7554951A>GCA403129547PNPLA6c.2693A>G (p.His898Arg)
c.2579A>G (p.His860Arg)
c.2723A>G (p.His908Arg)
c.2498A>G (p.His833Arg)
19g.7554951A>TCA403129543PNPLA6c.2693A>T (p.His898Leu)
c.2579A>T (p.His860Leu)
c.2723A>T (p.His908Leu)
c.2498A>T (p.His833Leu)
19g.7554952C>ACA403129550PNPLA6c.2694C>A (p.His898Gln)
c.2580C>A (p.His860Gln)
c.2724C>A (p.His908Gln)
c.2499C>A (p.His833Gln)
19g.7554952C>GCA403129552PNPLA6c.2694C>G (p.His898Gln)
c.2580C>G (p.His860Gln)
c.2724C>G (p.His908Gln)
c.2499C>G (p.His833Gln)
19g.7554952C>TCA505404209PNPLA6c.2694C>T (p.His898=)
c.2580C>T (p.His860=)
c.2724C>T (p.His908=)
c.2499C>T (p.His833=)
 gnomAD v4
19g.7554953C>ACA505404210PNPLA6c.2695C>A (p.Arg899=)
c.2581C>A (p.Arg861=)
c.2725C>A (p.Arg909=)
c.2500C>A (p.Arg834=)
 dbSNP gnomAD v3 gnomAD v4
19g.7554953C=CA2320976363PNPLA6c.2695C= (p.Arg899=)
c.2581C= (p.Arg861=)
c.2725C= (p.Arg909=)
c.2500C= (p.Arg834=)
19g.7554953C>GCA403129559PNPLA6c.2695C>G (p.Arg899Gly)
c.2581C>G (p.Arg861Gly)
c.2725C>G (p.Arg909Gly)
c.2500C>G (p.Arg834Gly)
19g.7554953C>TCA403129560PNPLA6c.2695C>T (p.Arg899Ter)
c.2581C>T (p.Arg861Ter)
c.2725C>T (p.Arg909Ter)
c.2500C>T (p.Arg834Ter)
 gnomAD v4 COSMIC COSMIC
19g.7554953_7554955delinsCGACA2320976362PNPLA6c.2695_2697delinsCGA (p.Arg899=)
c.2581_2583delinsCGA (p.Arg861=)
c.2725_2727delinsCGA (p.Arg909=)
c.2500_2502delinsCGA (p.Arg834=)
19g.7554954G>ACA403129563PNPLA6c.2696G>A (p.Arg899Gln)
c.2582G>A (p.Arg861Gln)
c.2726G>A (p.Arg909Gln)
c.2501G>A (p.Arg834Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7554954G>CCA403129565PNPLA6c.2696G>C (p.Arg899Pro)
c.2582G>C (p.Arg861Pro)
c.2726G>C (p.Arg909Pro)
c.2501G>C (p.Arg834Pro)
 gnomAD v4
19g.7554954G=CA2320976364PNPLA6c.2696G= (p.Arg899=)
c.2582G= (p.Arg861=)
c.2726G= (p.Arg909=)
c.2501G= (p.Arg834=)
19g.7554954G>TCA403129567PNPLA6c.2696G>T (p.Arg899Leu)
c.2582G>T (p.Arg861Leu)
c.2726G>T (p.Arg909Leu)
c.2501G>T (p.Arg834Leu)
 gnomAD v4
19g.7554957_7554958delCA631462666PNPLA6c.2699_2700del (p.Glu900GlyfsTer?)
c.2585_2586del (p.Glu862GlyfsTer?)
c.2729_2730del (p.Glu910GlyfsTer?)
c.2504_2505del (p.Glu835GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.7554955A>CCA505404211PNPLA6c.2697A>C (p.Arg899=)
c.2583A>C (p.Arg861=)
c.2727A>C (p.Arg909=)
c.2502A>C (p.Arg834=)
19g.7554955A>GCA505404212PNPLA6c.2697A>G (p.Arg899=)
c.2583A>G (p.Arg861=)
c.2727A>G (p.Arg909=)
c.2502A>G (p.Arg834=)
19g.7554955A>TCA505404213PNPLA6c.2697A>T (p.Arg899=)
c.2583A>T (p.Arg861=)
c.2727A>T (p.Arg909=)
c.2502A>T (p.Arg834=)
19g.7554956G>ACA403129569PNPLA6c.2698G>A (p.Glu900Lys)
c.2584G>A (p.Glu862Lys)
c.2728G>A (p.Glu910Lys)
c.2503G>A (p.Glu835Lys)
 dbSNP gnomAD v2
19g.7554956G>CCA403129571PNPLA6c.2698G>C (p.Glu900Gln)
c.2584G>C (p.Glu862Gln)
c.2728G>C (p.Glu910Gln)
c.2503G>C (p.Glu835Gln)
19g.7554956G=CA2320976365PNPLA6c.2698G= (p.Glu900=)
c.2584G= (p.Glu862=)
c.2728G= (p.Glu910=)
c.2503G= (p.Glu835=)
19g.7554956G>TCA403129574PNPLA6c.2698G>T (p.Glu900Ter)
c.2584G>T (p.Glu862Ter)
c.2728G>T (p.Glu910Ter)
c.2503G>T (p.Glu835Ter)
 gnomAD v4
19g.7554957A>CCA403129576PNPLA6c.2699A>C (p.Glu900Ala)
c.2585A>C (p.Glu862Ala)
c.2729A>C (p.Glu910Ala)
c.2504A>C (p.Glu835Ala)
19g.7554957A>GCA403129579PNPLA6c.2699A>G (p.Glu900Gly)
c.2585A>G (p.Glu862Gly)
c.2729A>G (p.Glu910Gly)
c.2504A>G (p.Glu835Gly)
 gnomAD v4
19g.7554957A>TCA403129581PNPLA6c.2699A>T (p.Glu900Val)
c.2585A>T (p.Glu862Val)
c.2729A>T (p.Glu910Val)
c.2504A>T (p.Glu835Val)
 gnomAD v4
19g.7554958G>ACA505404214PNPLA6c.2700G>A (p.Glu900=)
c.2586G>A (p.Glu862=)
c.2730G>A (p.Glu910=)
c.2505G>A (p.Glu835=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7554958G>CCA403129586PNPLA6c.2700G>C (p.Glu900Asp)
c.2586G>C (p.Glu862Asp)
c.2730G>C (p.Glu910Asp)
c.2505G>C (p.Glu835Asp)
19g.7554958G=CA2320976366PNPLA6c.2700G= (p.Glu900=)
c.2586G= (p.Glu862=)
c.2730G= (p.Glu910=)
c.2505G= (p.Glu835=)
19g.7554958G>TCA403129583PNPLA6c.2700G>T (p.Glu900Asp)
c.2586G>T (p.Glu862Asp)
c.2730G>T (p.Glu910Asp)
c.2505G>T (p.Glu835Asp)
 gnomAD v4
19g.7554959G>ACA403129597PNPLA6c.2701G>A (p.Glu901Lys)
c.2587G>A (p.Glu863Lys)
c.2731G>A (p.Glu911Lys)
c.2506G>A (p.Glu836Lys)
19g.7554959G>CCA403129599PNPLA6c.2701G>C (p.Glu901Gln)
c.2587G>C (p.Glu863Gln)
c.2731G>C (p.Glu911Gln)
c.2506G>C (p.Glu836Gln)
19g.7554959G>TCA403129602PNPLA6c.2701G>T (p.Glu901Ter)
c.2587G>T (p.Glu863Ter)
c.2731G>T (p.Glu911Ter)
c.2506G>T (p.Glu836Ter)
 gnomAD v4
19g.7554960A=CA2320976367PNPLA6c.2702A= (p.Glu901=)
c.2588A= (p.Glu863=)
c.2732A= (p.Glu911=)
c.2507A= (p.Glu836=)
19g.7554960A>CCA403129607PNPLA6c.2702A>C (p.Glu901Ala)
c.2588A>C (p.Glu863Ala)
c.2732A>C (p.Glu911Ala)
c.2507A>C (p.Glu836Ala)
19g.7554960A>GCA403129608PNPLA6c.2702A>G (p.Glu901Gly)
c.2588A>G (p.Glu863Gly)
c.2732A>G (p.Glu911Gly)
c.2507A>G (p.Glu836Gly)
 gnomAD v4
19g.7554960A>TCA403129610PNPLA6c.2702A>T (p.Glu901Val)
c.2588A>T (p.Glu863Val)
c.2732A>T (p.Glu911Val)
c.2507A>T (p.Glu836Val)
19g.7554961G>ACA505404215PNPLA6c.2703G>A (p.Glu901=)
c.2589G>A (p.Glu863=)
c.2733G>A (p.Glu911=)
c.2508G>A (p.Glu836=)
 gnomAD v4
19g.7554961G>CCA403129612PNPLA6c.2703G>C (p.Glu901Asp)
c.2589G>C (p.Glu863Asp)
c.2733G>C (p.Glu911Asp)
c.2508G>C (p.Glu836Asp)
19g.7554961G>TCA403129614PNPLA6c.2703G>T (p.Glu901Asp)
c.2589G>T (p.Glu863Asp)
c.2733G>T (p.Glu911Asp)
c.2508G>T (p.Glu836Asp)
 gnomAD v4
19g.7554964_7554965insACGGTGCGCGTGGGGCCA2320976368PNPLA6c.2706_2707insACGGTGCGCGTGGGGC (p.Ala903ThrfsTer?)
c.2592_2593insACGGTGCGCGTGGGGC (p.Ala865ThrfsTer?)
c.2736_2737insACGGTGCGCGTGGGGC (p.Ala913ThrfsTer?)
c.2511_2512insACGGTGCGCGTGGGGC (p.Ala838ThrfsTer?)
 dbSNP
19g.7554962G>ACA304879144PNPLA6c.2704G>A (p.Gly902Ser)
c.2590G>A (p.Gly864Ser)
c.2734G>A (p.Gly912Ser)
c.2509G>A (p.Gly837Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.7554962G>CCA403129622PNPLA6c.2704G>C (p.Gly902Arg)
c.2590G>C (p.Gly864Arg)
c.2734G>C (p.Gly912Arg)
c.2509G>C (p.Gly837Arg)
19g.7554962G=CA2320976369PNPLA6c.2704G= (p.Gly902=)
c.2590G= (p.Gly864=)
c.2734G= (p.Gly912=)
c.2509G= (p.Gly837=)
19g.7554962G>TCA403129623PNPLA6c.2704G>T (p.Gly902Cys)
c.2590G>T (p.Gly864Cys)
c.2734G>T (p.Gly912Cys)
c.2509G>T (p.Gly837Cys)
 gnomAD v4
19g.7554963G>ACA403129626PNPLA6c.2705G>A (p.Gly902Asp)
c.2591G>A (p.Gly864Asp)
c.2735G>A (p.Gly912Asp)
c.2510G>A (p.Gly837Asp)
 gnomAD v4
19g.7554963G>CCA403129627PNPLA6c.2705G>C (p.Gly902Ala)
c.2591G>C (p.Gly864Ala)
c.2735G>C (p.Gly912Ala)
c.2510G>C (p.Gly837Ala)
 dbSNP
19g.7554963G=CA2320976370PNPLA6c.2705G= (p.Gly902=)
c.2591G= (p.Gly864=)
c.2735G= (p.Gly912=)
c.2510G= (p.Gly837=)
19g.7554963G>TCA403129628PNPLA6c.2705G>T (p.Gly902Val)
c.2591G>T (p.Gly864Val)
c.2735G>T (p.Gly912Val)
c.2510G>T (p.Gly837Val)
 gnomAD v4
19g.7554964C>ACA505404216PNPLA6c.2706C>A (p.Gly902=)
c.2592C>A (p.Gly864=)
c.2736C>A (p.Gly912=)
c.2511C>A (p.Gly837=)
 gnomAD v4
19g.7554964C=CA2320976371PNPLA6c.2706C= (p.Gly902=)
c.2592C= (p.Gly864=)
c.2736C= (p.Gly912=)
c.2511C= (p.Gly837=)
19g.7554964C>GCA505404217PNPLA6c.2706C>G (p.Gly902=)
c.2592C>G (p.Gly864=)
c.2736C>G (p.Gly912=)
c.2511C>G (p.Gly837=)
19g.7554964C>TCA9140206PNPLA6c.2706C>T (p.Gly902=)
c.2592C>T (p.Gly864=)
c.2736C>T (p.Gly912=)
c.2511C>T (p.Gly837=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7554965G>ACA9140207PNPLA6c.2707G>A (p.Ala903Thr)
c.2593G>A (p.Ala865Thr)
c.2737G>A (p.Ala913Thr)
c.2512G>A (p.Ala838Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7554965G>CCA403129629PNPLA6c.2707G>C (p.Ala903Pro)
c.2593G>C (p.Ala865Pro)
c.2737G>C (p.Ala913Pro)
c.2512G>C (p.Ala838Pro)
 gnomAD v4
19g.7554965G=CA2320976372PNPLA6c.2707G= (p.Ala903=)
c.2593G= (p.Ala865=)
c.2737G= (p.Ala913=)
c.2512G= (p.Ala838=)
19g.7554965G>TCA403129632PNPLA6c.2707G>T (p.Ala903Ser)
c.2593G>T (p.Ala865Ser)
c.2737G>T (p.Ala913Ser)
c.2512G>T (p.Ala838Ser)
 gnomAD v4
19g.7554966C>ACA403129641PNPLA6c.2708C>A (p.Ala903Glu)
c.2594C>A (p.Ala865Glu)
c.2738C>A (p.Ala913Glu)
c.2513C>A (p.Ala838Glu)
19g.7554966C=CA2320976373PNPLA6c.2708C= (p.Ala903=)
c.2594C= (p.Ala865=)
c.2738C= (p.Ala913=)
c.2513C= (p.Ala838=)
19g.7554966C>GCA403129645PNPLA6c.2708C>G (p.Ala903Gly)
c.2594C>G (p.Ala865Gly)
c.2738C>G (p.Ala913Gly)
c.2513C>G (p.Ala838Gly)
19g.7554966C>TCA403129647PNPLA6c.2708C>T (p.Ala903Val)
c.2594C>T (p.Ala865Val)
c.2738C>T (p.Ala913Val)
c.2513C>T (p.Ala838Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7554967G>ACA505404218PNPLA6c.2709G>A (p.Ala903=)
c.2595G>A (p.Ala865=)
c.2739G>A (p.Ala913=)
c.2514G>A (p.Ala838=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7554967G>CCA505404219PNPLA6c.2709G>C (p.Ala903=)
c.2595G>C (p.Ala865=)
c.2739G>C (p.Ala913=)
c.2514G>C (p.Ala838=)
19g.7554967G=CA2320976374PNPLA6c.2709G= (p.Ala903=)
c.2595G= (p.Ala865=)
c.2739G= (p.Ala913=)
c.2514G= (p.Ala838=)
19g.7554967G>TCA505404220PNPLA6c.2709G>T (p.Ala903=)
c.2595G>T (p.Ala865=)
c.2739G>T (p.Ala913=)
c.2514G>T (p.Ala838=)
 gnomAD v4
19g.7554968G>ACA403129650PNPLA6c.2710G>A (p.Gly904Ser)
c.2596G>A (p.Gly866Ser)
c.2740G>A (p.Gly914Ser)
c.2515G>A (p.Gly839Ser)
 dbSNP
19g.7554968G>CCA403129653PNPLA6c.2710G>C (p.Gly904Arg)
c.2596G>C (p.Gly866Arg)
c.2740G>C (p.Gly914Arg)
c.2515G>C (p.Gly839Arg)
19g.7554968G=CA2320976375PNPLA6c.2710G= (p.Gly904=)
c.2596G= (p.Gly866=)
c.2740G= (p.Gly914=)
c.2515G= (p.Gly839=)
19g.7554968G>TCA403129655PNPLA6c.2710G>T (p.Gly904Cys)
c.2596G>T (p.Gly866Cys)
c.2740G>T (p.Gly914Cys)
c.2515G>T (p.Gly839Cys)
 dbSNP gnomAD v4
19g.7554969G>ACA403129659PNPLA6c.2711G>A (p.Gly904Asp)
c.2597G>A (p.Gly866Asp)
c.2741G>A (p.Gly914Asp)
c.2516G>A (p.Gly839Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.7554969G>CCA403129668PNPLA6c.2711G>C (p.Gly904Ala)
c.2597G>C (p.Gly866Ala)
c.2741G>C (p.Gly914Ala)
c.2516G>C (p.Gly839Ala)
 gnomAD v4
19g.7554969G=CA2320976376PNPLA6c.2711G= (p.Gly904=)
c.2597G= (p.Gly866=)
c.2741G= (p.Gly914=)
c.2516G= (p.Gly839=)
19g.7554969G>TCA403129665PNPLA6c.2711G>T (p.Gly904Val)
c.2597G>T (p.Gly866Val)
c.2741G>T (p.Gly914Val)
c.2516G>T (p.Gly839Val)
 ClinVar gnomAD v4
19g.7554969_7554970delinsGCCA2320976377PNPLA6c.2711_2712delinsGC (p.Gly904=)
c.2597_2598delinsGC (p.Gly866=)
c.2741_2742delinsGC (p.Gly914=)
c.2516_2517delinsGC (p.Gly839=)
19g.7554970C>ACA505404221PNPLA6c.2712C>A (p.Gly904=)
c.2598C>A (p.Gly866=)
c.2742C>A (p.Gly914=)
c.2517C>A (p.Gly839=)
 gnomAD v4
19g.7554970C=CA2320976378PNPLA6c.2712C= (p.Gly904=)
c.2598C= (p.Gly866=)
c.2742C= (p.Gly914=)
c.2517C= (p.Gly839=)
19g.7554970C>GCA505404222PNPLA6c.2712C>G (p.Gly904=)
c.2598C>G (p.Gly866=)
c.2742C>G (p.Gly914=)
c.2517C>G (p.Gly839=)
19g.7554970C>TCA9140208PNPLA6c.2712C>T (p.Gly904=)
c.2598C>T (p.Gly866=)
c.2742C>T (p.Gly914=)
c.2517C>T (p.Gly839=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7554973delCA891863005PNPLA6c.2715del (p.Thr906ArgfsTer7)
c.2601del (p.Thr868ArgfsTer7)
c.2745del (p.Thr916ArgfsTer7)
c.2520del (p.Thr841ArgfsTer7)
 ClinVar dbSNP gnomAD v4
19g.7554971C>ACA403129674PNPLA6c.2713C>A (p.Pro905Thr)
c.2599C>A (p.Pro867Thr)
c.2743C>A (p.Pro915Thr)
c.2518C>A (p.Pro840Thr)
 gnomAD v4
19g.7554971C>GCA403129677PNPLA6c.2713C>G (p.Pro905Ala)
c.2599C>G (p.Pro867Ala)
c.2743C>G (p.Pro915Ala)
c.2518C>G (p.Pro840Ala)
19g.7554971C>TCA403129680PNPLA6c.2713C>T (p.Pro905Ser)
c.2599C>T (p.Pro867Ser)
c.2743C>T (p.Pro915Ser)
c.2518C>T (p.Pro840Ser)
 gnomAD v4
19g.7554972C>ACA403129684PNPLA6c.2714C>A (p.Pro905His)
c.2600C>A (p.Pro867His)
c.2744C>A (p.Pro915His)
c.2519C>A (p.Pro840His)
 gnomAD v4
19g.7554972C=CA2320976379PNPLA6c.2714C= (p.Pro905=)
c.2600C= (p.Pro867=)
c.2744C= (p.Pro915=)
c.2519C= (p.Pro840=)
19g.7554972C>GCA403129688PNPLA6c.2714C>G (p.Pro905Arg)
c.2600C>G (p.Pro867Arg)
c.2744C>G (p.Pro915Arg)
c.2519C>G (p.Pro840Arg)
 dbSNP
19g.7554972C>TCA403129685PNPLA6c.2714C>T (p.Pro905Leu)
c.2600C>T (p.Pro867Leu)
c.2744C>T (p.Pro915Leu)
c.2519C>T (p.Pro840Leu)
 ClinVar dbSNP
19g.7554973C>ACA505404223PNPLA6c.2715C>A (p.Pro905=)
c.2601C>A (p.Pro867=)
c.2745C>A (p.Pro915=)
c.2520C>A (p.Pro840=)
 gnomAD v4
19g.7554973C=CA2320976380PNPLA6c.2715C= (p.Pro905=)
c.2601C= (p.Pro867=)
c.2745C= (p.Pro915=)
c.2520C= (p.Pro840=)
19g.7554973C>GCA505404224PNPLA6c.2715C>G (p.Pro905=)
c.2601C>G (p.Pro867=)
c.2745C>G (p.Pro915=)
c.2520C>G (p.Pro840=)
 ClinVar dbSNP
19g.7554973C>TCA9140209PNPLA6c.2715C>T (p.Pro905=)
c.2601C>T (p.Pro867=)
c.2745C>T (p.Pro915=)
c.2520C>T (p.Pro840=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7554974A>CCA403129697PNPLA6c.2716A>C (p.Thr906Pro)
c.2602A>C (p.Thr868Pro)
c.2746A>C (p.Thr916Pro)
c.2521A>C (p.Thr841Pro)
19g.7554974A>GCA403129698PNPLA6c.2716A>G (p.Thr906Ala)
c.2602A>G (p.Thr868Ala)
c.2746A>G (p.Thr916Ala)
c.2521A>G (p.Thr841Ala)
 gnomAD v4
19g.7554974A>TCA403129701PNPLA6c.2716A>T (p.Thr906Ser)
c.2602A>T (p.Thr868Ser)
c.2746A>T (p.Thr916Ser)
c.2521A>T (p.Thr841Ser)
19g.7554975C>ACA403129702PNPLA6c.2717C>A (p.Thr906Lys)
c.2603C>A (p.Thr868Lys)
c.2747C>A (p.Thr916Lys)
c.2522C>A (p.Thr841Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.7554975C=CA2320976381PNPLA6c.2717C= (p.Thr906=)
c.2603C= (p.Thr868=)
c.2747C= (p.Thr916=)
c.2522C= (p.Thr841=)
19g.7554975C>GCA403129703PNPLA6c.2717C>G (p.Thr906Arg)
c.2603C>G (p.Thr868Arg)
c.2747C>G (p.Thr916Arg)
c.2522C>G (p.Thr841Arg)
19g.7554975C>TCA403129704PNPLA6c.2717C>T (p.Thr906Met)
c.2603C>T (p.Thr868Met)
c.2747C>T (p.Thr916Met)
c.2522C>T (p.Thr841Met)
 gnomAD v4
19g.7554976G>ACA505404225PNPLA6c.2718G>A (p.Thr906=)
c.2604G>A (p.Thr868=)
c.2748G>A (p.Thr916=)
c.2523G>A (p.Thr841=)
 gnomAD v4 COSMIC COSMIC
19g.7554976G>CCA9140210PNPLA6c.2718G>C (p.Thr906=)
c.2604G>C (p.Thr868=)
c.2748G>C (p.Thr916=)
c.2523G>C (p.Thr841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7554976G=CA2320976382PNPLA6c.2718G= (p.Thr906=)
c.2604G= (p.Thr868=)
c.2748G= (p.Thr916=)
c.2523G= (p.Thr841=)
19g.7554976G>TCA505404226PNPLA6c.2718G>T (p.Thr906=)
c.2604G>T (p.Thr868=)
c.2748G>T (p.Thr916=)
c.2523G>T (p.Thr841=)
 dbSNP gnomAD v3 gnomAD v4
19g.7554977C>ACA403129705PNPLA6c.2719C>A (p.Arg907Ser)
c.2605C>A (p.Arg869Ser)
c.2749C>A (p.Arg917Ser)
c.2524C>A (p.Arg842Ser)
 dbSNP gnomAD v2
19g.7554977C=CA2320976383PNPLA6c.2719C= (p.Arg907=)
c.2605C= (p.Arg869=)
c.2749C= (p.Arg917=)
c.2524C= (p.Arg842=)
19g.7554977C>GCA403129706PNPLA6c.2719C>G (p.Arg907Gly)
c.2605C>G (p.Arg869Gly)
c.2749C>G (p.Arg917Gly)
c.2524C>G (p.Arg842Gly)
 gnomAD v4
19g.7554977C>TCA403129707PNPLA6c.2719C>T (p.Arg907Cys)
c.2605C>T (p.Arg869Cys)
c.2749C>T (p.Arg917Cys)
c.2524C>T (p.Arg842Cys)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.7554978G>ACA403129710PNPLA6c.2720G>A (p.Arg907His)
c.2606G>A (p.Arg869His)
c.2750G>A (p.Arg917His)
c.2525G>A (p.Arg842His)
 gnomAD v4
19g.7554978G>CCA403129713PNPLA6c.2720G>C (p.Arg907Pro)
c.2606G>C (p.Arg869Pro)
c.2750G>C (p.Arg917Pro)
c.2525G>C (p.Arg842Pro)
19g.7554978G>TCA403129711PNPLA6c.2720G>T (p.Arg907Leu)
c.2606G>T (p.Arg869Leu)
c.2750G>T (p.Arg917Leu)
c.2525G>T (p.Arg842Leu)
 gnomAD v4
19g.7554979C>ACA505404227PNPLA6c.2721C>A (p.Arg907=)
c.2607C>A (p.Arg869=)
c.2751C>A (p.Arg917=)
c.2526C>A (p.Arg842=)
 gnomAD v4
19g.7554979C>GCA505404229PNPLA6c.2721C>G (p.Arg907=)
c.2607C>G (p.Arg869=)
c.2751C>G (p.Arg917=)
c.2526C>G (p.Arg842=)
19g.7554979C>TCA505404228PNPLA6c.2721C>T (p.Arg907=)
c.2607C>T (p.Arg869=)
c.2751C>T (p.Arg917=)
c.2526C>T (p.Arg842=)
 gnomAD v4
19g.7554980A=CA2320976384PNPLA6c.2722A= (p.Thr908=)
c.2608A= (p.Thr870=)
c.2752A= (p.Thr918=)
c.2527A= (p.Thr843=)
19g.7554980A>CCA403129714PNPLA6c.2722A>C (p.Thr908Pro)
c.2608A>C (p.Thr870Pro)
c.2752A>C (p.Thr918Pro)
c.2527A>C (p.Thr843Pro)
 dbSNP gnomAD v4
19g.7554980A>GCA403129721PNPLA6c.2722A>G (p.Thr908Ala)
c.2608A>G (p.Thr870Ala)
c.2752A>G (p.Thr918Ala)
c.2527A>G (p.Thr843Ala)
 gnomAD v4
19g.7554980A>TCA403129717PNPLA6c.2722A>T (p.Thr908Ser)
c.2608A>T (p.Thr870Ser)
c.2752A>T (p.Thr918Ser)
c.2527A>T (p.Thr843Ser)
19g.7554981C>ACA403129725PNPLA6c.2723C>A (p.Thr908Asn)
c.2609C>A (p.Thr870Asn)
c.2753C>A (p.Thr918Asn)
c.2528C>A (p.Thr843Asn)
19g.7554981C>GCA403129727PNPLA6c.2723C>G (p.Thr908Ser)
c.2609C>G (p.Thr870Ser)
c.2753C>G (p.Thr918Ser)
c.2528C>G (p.Thr843Ser)
19g.7554981C>TCA403129729PNPLA6c.2723C>T (p.Thr908Ile)
c.2609C>T (p.Thr870Ile)
c.2753C>T (p.Thr918Ile)
c.2528C>T (p.Thr843Ile)
 gnomAD v4
19g.7554982C>ACA9140211PNPLA6c.2724C>A (p.Thr908=)
c.2610C>A (p.Thr870=)
c.2754C>A (p.Thr918=)
c.2529C>A (p.Thr843=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7554982C=CA2320976385PNPLA6c.2724C= (p.Thr908=)
c.2610C= (p.Thr870=)
c.2754C= (p.Thr918=)
c.2529C= (p.Thr843=)
19g.7554982C>GCA505404230PNPLA6c.2724C>G (p.Thr908=)
c.2610C>G (p.Thr870=)
c.2754C>G (p.Thr918=)
c.2529C>G (p.Thr843=)
 dbSNP gnomAD v4
19g.7554982C>TCA505404231PNPLA6c.2724C>T (p.Thr908=)
c.2610C>T (p.Thr870=)
c.2754C>T (p.Thr918=)
c.2529C>T (p.Thr843=)
 dbSNP gnomAD v2 COSMIC COSMIC
19g.7554983G>ACA403129735PNPLA6c.2725G>A (p.Val909Met)
c.2611G>A (p.Val871Met)
c.2755G>A (p.Val919Met)
c.2530G>A (p.Val844Met)
 gnomAD v4
19g.7554983G>CCA403129737PNPLA6c.2725G>C (p.Val909Leu)
c.2611G>C (p.Val871Leu)
c.2755G>C (p.Val919Leu)
c.2530G>C (p.Val844Leu)
19g.7554983G>TCA403129740PNPLA6c.2725G>T (p.Val909Leu)
c.2611G>T (p.Val871Leu)
c.2755G>T (p.Val919Leu)
c.2530G>T (p.Val844Leu)
19g.7554984T>ACA403129743PNPLA6c.2726T>A (p.Val909Glu)
c.2612T>A (p.Val871Glu)
c.2756T>A (p.Val919Glu)
c.2531T>A (p.Val844Glu)
19g.7554984T>CCA403129747PNPLA6c.2726T>C (p.Val909Ala)
c.2612T>C (p.Val871Ala)
c.2756T>C (p.Val919Ala)
c.2531T>C (p.Val844Ala)
19g.7554984T>GCA403129751PNPLA6c.2726T>G (p.Val909Gly)
c.2612T>G (p.Val871Gly)
c.2756T>G (p.Val919Gly)
c.2531T>G (p.Val844Gly)
19g.7554985G>ACA505404232PNPLA6c.2727G>A (p.Val909=)
c.2613G>A (p.Val871=)
c.2757G>A (p.Val919=)
c.2532G>A (p.Val844=)
19g.7554985G>CCA505404233PNPLA6c.2727G>C (p.Val909=)
c.2613G>C (p.Val871=)
c.2757G>C (p.Val919=)
c.2532G>C (p.Val844=)
19g.7554985G>TCA505404234PNPLA6c.2727G>T (p.Val909=)
c.2613G>T (p.Val871=)
c.2757G>T (p.Val919=)
c.2532G>T (p.Val844=)
 gnomAD v4
19g.7554986G>ACA403129754PNPLA6c.2728G>A (p.Glu910Lys)
c.2614G>A (p.Glu872Lys)
c.2758G>A (p.Glu920Lys)
c.2533G>A (p.Glu845Lys)
19g.7554986G>CCA403129753PNPLA6c.2728G>C (p.Glu910Gln)
c.2614G>C (p.Glu872Gln)
c.2758G>C (p.Glu920Gln)
c.2533G>C (p.Glu845Gln)
19g.7554986G=CA2320976386PNPLA6c.2728G= (p.Glu910=)
c.2614G= (p.Glu872=)
c.2758G= (p.Glu920=)
c.2533G= (p.Glu845=)
19g.7554986G>TCA403129752PNPLA6c.2728G>T (p.Glu910Ter)
c.2614G>T (p.Glu872Ter)
c.2758G>T (p.Glu920Ter)
c.2533G>T (p.Glu845Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.7554987A=CA2320976387PNPLA6c.2729A= (p.Glu910=)
c.2615A= (p.Glu872=)
c.2759A= (p.Glu920=)
c.2534A= (p.Glu845=)
19g.7554987A>CCA403129755PNPLA6c.2729A>C (p.Glu910Ala)
c.2615A>C (p.Glu872Ala)
c.2759A>C (p.Glu920Ala)
c.2534A>C (p.Glu845Ala)
19g.7554987A>GCA403129756PNPLA6c.2729A>G (p.Glu910Gly)
c.2615A>G (p.Glu872Gly)
c.2759A>G (p.Glu920Gly)
c.2534A>G (p.Glu845Gly)
 gnomAD v4
19g.7554987A>TCA403129757PNPLA6c.2729A>T (p.Glu910Val)
c.2615A>T (p.Glu872Val)
c.2759A>T (p.Glu920Val)
c.2534A>T (p.Glu845Val)
 dbSNP gnomAD v2 gnomAD v4
19g.7554988G>ACA9140212PNPLA6c.2730G>A (p.Glu910=)
c.2616G>A (p.Glu872=)
c.2760G>A (p.Glu920=)
c.2535G>A (p.Glu845=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7554988G>CCA403129760PNPLA6c.2730G>C (p.Glu910Asp)
c.2616G>C (p.Glu872Asp)
c.2760G>C (p.Glu920Asp)
c.2535G>C (p.Glu845Asp)
19g.7554988G=CA2320976388PNPLA6c.2730G= (p.Glu910=)
c.2616G= (p.Glu872=)
c.2760G= (p.Glu920=)
c.2535G= (p.Glu845=)
19g.7554988G>TCA403129761PNPLA6c.2730G>T (p.Glu910Asp)
c.2616G>T (p.Glu872Asp)
c.2760G>T (p.Glu920Asp)
c.2535G>T (p.Glu845Asp)
 gnomAD v4
19g.7554989T>ACA403129763PNPLA6c.2731T>A (p.Trp911Arg)
c.2617T>A (p.Trp873Arg)
c.2761T>A (p.Trp921Arg)
c.2536T>A (p.Trp846Arg)
19g.7554989T>CCA403129765PNPLA6c.2731T>C (p.Trp911Arg)
c.2617T>C (p.Trp873Arg)
c.2761T>C (p.Trp921Arg)
c.2536T>C (p.Trp846Arg)
 COSMIC COSMIC
19g.7554989T>GCA403129767PNPLA6c.2731T>G (p.Trp911Gly)
c.2617T>G (p.Trp873Gly)
c.2761T>G (p.Trp921Gly)
c.2536T>G (p.Trp846Gly)
19g.7554990G>ACA403129770PNPLA6c.2732G>A (p.Trp911Ter)
c.2618G>A (p.Trp873Ter)
c.2762G>A (p.Trp921Ter)
c.2537G>A (p.Trp846Ter)
19g.7554990G>CCA403129773PNPLA6c.2732G>C (p.Trp911Ser)
c.2618G>C (p.Trp873Ser)
c.2762G>C (p.Trp921Ser)
c.2537G>C (p.Trp846Ser)
19g.7554990G>TCA403129775PNPLA6c.2732G>T (p.Trp911Leu)
c.2618G>T (p.Trp873Leu)
c.2762G>T (p.Trp921Leu)
c.2537G>T (p.Trp846Leu)
 gnomAD v4
19g.7554991G>ACA403129781PNPLA6c.2733G>A (p.Trp911Ter)
c.2619G>A (p.Trp873Ter)
c.2763G>A (p.Trp921Ter)
c.2538G>A (p.Trp846Ter)
 dbSNP gnomAD v4
19g.7554991G>CCA403129783PNPLA6c.2733G>C (p.Trp911Cys)
c.2619G>C (p.Trp873Cys)
c.2763G>C (p.Trp921Cys)
c.2538G>C (p.Trp846Cys)
 gnomAD v4
19g.7554991G=CA2320976389PNPLA6c.2733G= (p.Trp911=)
c.2619G= (p.Trp873=)
c.2763G= (p.Trp921=)
c.2538G= (p.Trp846=)
19g.7554991G>TCA403129778PNPLA6c.2733G>T (p.Trp911Cys)
c.2619G>T (p.Trp873Cys)
c.2763G>T (p.Trp921Cys)
c.2538G>T (p.Trp846Cys)
 gnomAD v4
19g.7554992C>ACA403129784PNPLA6c.2734C>A (p.Leu912Ile)
c.2620C>A (p.Leu874Ile)
c.2764C>A (p.Leu922Ile)
c.2539C>A (p.Leu847Ile)
 gnomAD v4
19g.7554992C>GCA403129785PNPLA6c.2734C>G (p.Leu912Val)
c.2620C>G (p.Leu874Val)
c.2764C>G (p.Leu922Val)
c.2539C>G (p.Leu847Val)
19g.7554992C>TCA505404235PNPLA6c.2734C>T (p.Leu912=)
c.2620C>T (p.Leu874=)
c.2764C>T (p.Leu922=)
c.2539C>T (p.Leu847=)
19g.7554993T>ACA403129787PNPLA6c.2735T>A (p.Leu912Gln)
c.2621T>A (p.Leu874Gln)
c.2765T>A (p.Leu922Gln)
c.2540T>A (p.Leu847Gln)
19g.7554993T>CCA403129790PNPLA6c.2735T>C (p.Leu912Pro)
c.2621T>C (p.Leu874Pro)
c.2765T>C (p.Leu922Pro)
c.2540T>C (p.Leu847Pro)
 gnomAD v4
19g.7554993T>GCA403129794PNPLA6c.2735T>G (p.Leu912Arg)
c.2621T>G (p.Leu874Arg)
c.2765T>G (p.Leu922Arg)
c.2540T>G (p.Leu847Arg)
19g.7554994A>CCA505404236PNPLA6c.2736A>C (p.Leu912=)
c.2622A>C (p.Leu874=)
c.2766A>C (p.Leu922=)
c.2541A>C (p.Leu847=)
19g.7554994A>GCA505404237PNPLA6c.2736A>G (p.Leu912=)
c.2622A>G (p.Leu874=)
c.2766A>G (p.Leu922=)
c.2541A>G (p.Leu847=)
19g.7554994A>TCA505404238PNPLA6c.2736A>T (p.Leu912=)
c.2622A>T (p.Leu874=)
c.2766A>T (p.Leu922=)
c.2541A>T (p.Leu847=)
19g.7554995A>CCA403129796PNPLA6c.2737A>C (p.Asn913His)
c.2623A>C (p.Asn875His)
c.2767A>C (p.Asn923His)
c.2542A>C (p.Asn848His)
19g.7554995A>GCA403129797PNPLA6c.2737A>G (p.Asn913Asp)
c.2623A>G (p.Asn875Asp)
c.2767A>G (p.Asn923Asp)
c.2542A>G (p.Asn848Asp)
19g.7554995A>TCA403129800PNPLA6c.2737A>T (p.Asn913Tyr)
c.2623A>T (p.Asn875Tyr)
c.2767A>T (p.Asn923Tyr)
c.2542A>T (p.Asn848Tyr)
19g.7554996A>CCA403129802PNPLA6c.2738A>C (p.Asn913Thr)
c.2624A>C (p.Asn875Thr)
c.2768A>C (p.Asn923Thr)
c.2543A>C (p.Asn848Thr)
19g.7554996A>GCA403129805PNPLA6c.2738A>G (p.Asn913Ser)
c.2624A>G (p.Asn875Ser)
c.2768A>G (p.Asn923Ser)
c.2543A>G (p.Asn848Ser)
 gnomAD v4
19g.7554996A>TCA403129807PNPLA6c.2738A>T (p.Asn913Ile)
c.2624A>T (p.Asn875Ile)
c.2768A>T (p.Asn923Ile)
c.2543A>T (p.Asn848Ile)
19g.7554997T>ACA403129809PNPLA6c.2739T>A (p.Asn913Lys)
c.2625T>A (p.Asn875Lys)
c.2769T>A (p.Asn923Lys)
c.2544T>A (p.Asn848Lys)
19g.7554997T>CCA505404239PNPLA6c.2739T>C (p.Asn913=)
c.2625T>C (p.Asn875=)
c.2769T>C (p.Asn923=)
c.2544T>C (p.Asn848=)
 gnomAD v4
19g.7554997T>GCA403129811PNPLA6c.2739T>G (p.Asn913Lys)
c.2625T>G (p.Asn875Lys)
c.2769T>G (p.Asn923Lys)
c.2544T>G (p.Asn848Lys)
19g.7554998A>CCA403129819PNPLA6c.2740A>C (p.Met914Leu)
c.2626A>C (p.Met876Leu)
c.2770A>C (p.Met924Leu)
c.2545A>C (p.Met849Leu)
19g.7554998A>GCA403129816PNPLA6c.2740A>G (p.Met914Val)
c.2626A>G (p.Met876Val)
c.2770A>G (p.Met924Val)
c.2545A>G (p.Met849Val)
19g.7554998A>TCA403129814PNPLA6c.2740A>T (p.Met914Leu)
c.2626A>T (p.Met876Leu)
c.2770A>T (p.Met924Leu)
c.2545A>T (p.Met849Leu)
19g.7554999T>ACA403129821PNPLA6c.2741T>A (p.Met914Lys)
c.2627T>A (p.Met876Lys)
c.2771T>A (p.Met924Lys)
c.2546T>A (p.Met849Lys)
19g.7554999T>CCA403129822PNPLA6c.2741T>C (p.Met914Thr)
c.2627T>C (p.Met876Thr)
c.2771T>C (p.Met924Thr)
c.2546T>C (p.Met849Thr)
 dbSNP
19g.7554999T>GCA403129824PNPLA6c.2741T>G (p.Met914Arg)
c.2627T>G (p.Met876Arg)
c.2771T>G (p.Met924Arg)
c.2546T>G (p.Met849Arg)
19g.7554999T=CA2320976390PNPLA6c.2741T= (p.Met914=)
c.2627T= (p.Met876=)
c.2771T= (p.Met924=)
c.2546T= (p.Met849=)
19g.7555000G>ACA403129827PNPLA6c.2742G>A (p.Met914Ile)
c.2628G>A (p.Met876Ile)
c.2772G>A (p.Met924Ile)
c.2547G>A (p.Met849Ile)
 gnomAD v4
19g.7555000G>CCA403129830PNPLA6c.2742G>C (p.Met914Ile)
c.2628G>C (p.Met876Ile)
c.2772G>C (p.Met924Ile)
c.2547G>C (p.Met849Ile)
19g.7555000G>TCA403129832PNPLA6c.2742G>T (p.Met914Ile)
c.2628G>T (p.Met876Ile)
c.2772G>T (p.Met924Ile)
c.2547G>T (p.Met849Ile)
 gnomAD v4
19g.7555001C>ACA403129835PNPLA6c.2743C>A (p.Arg915Ser)
c.2629C>A (p.Arg877Ser)
c.2773C>A (p.Arg925Ser)
c.2548C>A (p.Arg850Ser)
 gnomAD v4
19g.7555001C=CA2320976391PNPLA6c.2743C= (p.Arg915=)
c.2629C= (p.Arg877=)
c.2773C= (p.Arg925=)
c.2548C= (p.Arg850=)
19g.7555001C>GCA403129838PNPLA6c.2743C>G (p.Arg915Gly)
c.2629C>G (p.Arg877Gly)
c.2773C>G (p.Arg925Gly)
c.2548C>G (p.Arg850Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.7555001C>TCA9140213PNPLA6c.2743C>T (p.Arg915Cys)
c.2629C>T (p.Arg877Cys)
c.2773C>T (p.Arg925Cys)
c.2548C>T (p.Arg850Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7555002G>ACA403129842PNPLA6c.2744G>A (p.Arg915His)
c.2630G>A (p.Arg877His)
c.2774G>A (p.Arg925His)
c.2549G>A (p.Arg850His)
19g.7555002G>CCA403129844PNPLA6c.2744G>C (p.Arg915Pro)
c.2630G>C (p.Arg877Pro)
c.2774G>C (p.Arg925Pro)
c.2549G>C (p.Arg850Pro)
19g.7555002G>TCA403129845PNPLA6c.2744G>T (p.Arg915Leu)
c.2630G>T (p.Arg877Leu)
c.2774G>T (p.Arg925Leu)
c.2549G>T (p.Arg850Leu)
 gnomAD v4
19g.7555003C>ACA505404240PNPLA6c.2745C>A (p.Arg915=)
c.2631C>A (p.Arg877=)
c.2775C>A (p.Arg925=)
c.2550C>A (p.Arg850=)
 gnomAD v4
19g.7555003C>GCA505404241PNPLA6c.2745C>G (p.Arg915=)
c.2631C>G (p.Arg877=)
c.2775C>G (p.Arg925=)
c.2550C>G (p.Arg850=)
19g.7555003C>TCA505404242PNPLA6c.2745C>T (p.Arg915=)
c.2631C>T (p.Arg877=)
c.2775C>T (p.Arg925=)
c.2550C>T (p.Arg850=)
19g.7555004A=CA2320976392PNPLA6c.2746A= (p.Ser916=)
c.2632A= (p.Ser878=)
c.2776A= (p.Ser926=)
c.2551A= (p.Ser851=)
19g.7555004A>CCA403129853PNPLA6c.2746A>C (p.Ser916Arg)
c.2632A>C (p.Ser878Arg)
c.2776A>C (p.Ser926Arg)
c.2551A>C (p.Ser851Arg)
19g.7555004A>GCA403129848PNPLA6c.2746A>G (p.Ser916Gly)
c.2632A>G (p.Ser878Gly)
c.2776A>G (p.Ser926Gly)
c.2551A>G (p.Ser851Gly)
 ClinVar dbSNP
19g.7555004A>TCA403129851PNPLA6c.2746A>T (p.Ser916Cys)
c.2632A>T (p.Ser878Cys)
c.2776A>T (p.Ser926Cys)
c.2551A>T (p.Ser851Cys)
19g.7555005G>ACA403129854PNPLA6c.2747G>A (p.Ser916Asn)
c.2633G>A (p.Ser878Asn)
c.2777G>A (p.Ser926Asn)
c.2552G>A (p.Ser851Asn)
19g.7555005G>CCA403129860PNPLA6c.2747G>C (p.Ser916Thr)
c.2633G>C (p.Ser878Thr)
c.2777G>C (p.Ser926Thr)
c.2552G>C (p.Ser851Thr)
19g.7555005G>TCA403129857PNPLA6c.2747G>T (p.Ser916Ile)
c.2633G>T (p.Ser878Ile)
c.2777G>T (p.Ser926Ile)
c.2552G>T (p.Ser851Ile)
 gnomAD v4
19g.7555006C>ACA403129863PNPLA6c.2748C>A (p.Ser916Arg)
c.2634C>A (p.Ser878Arg)
c.2778C>A (p.Ser926Arg)
c.2553C>A (p.Ser851Arg)
 gnomAD v4
19g.7555006C>GCA403129864PNPLA6c.2748C>G (p.Ser916Arg)
c.2634C>G (p.Ser878Arg)
c.2778C>G (p.Ser926Arg)
c.2553C>G (p.Ser851Arg)
19g.7555006C>TCA505404243PNPLA6c.2748C>T (p.Ser916=)
c.2634C>T (p.Ser878=)
c.2778C>T (p.Ser926=)
c.2553C>T (p.Ser851=)
 gnomAD v4
19g.7555007T>ACA403129866PNPLA6c.2749T>A (p.Trp917Arg)
c.2635T>A (p.Trp879Arg)
c.2779T>A (p.Trp927Arg)
c.2554T>A (p.Trp852Arg)
 gnomAD v4
19g.7555007T>CCA403129867PNPLA6c.2749T>C (p.Trp917Arg)
c.2635T>C (p.Trp879Arg)
c.2779T>C (p.Trp927Arg)
c.2554T>C (p.Trp852Arg)
 gnomAD v4
19g.7555007T>GCA403129868PNPLA6c.2749T>G (p.Trp917Gly)
c.2635T>G (p.Trp879Gly)
c.2779T>G (p.Trp927Gly)
c.2554T>G (p.Trp852Gly)
19g.7555008G>ACA403129870PNPLA6c.2750G>A (p.Trp917Ter)
c.2636G>A (p.Trp879Ter)
c.2780G>A (p.Trp927Ter)
c.2555G>A (p.Trp852Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.7555008G>CCA403129871PNPLA6c.2750G>C (p.Trp917Ser)
c.2636G>C (p.Trp879Ser)
c.2780G>C (p.Trp927Ser)
c.2555G>C (p.Trp852Ser)
19g.7555008G=CA2320976393PNPLA6c.2750G= (p.Trp917=)
c.2636G= (p.Trp879=)
c.2780G= (p.Trp927=)
c.2555G= (p.Trp852=)
19g.7555008G>TCA403129874PNPLA6c.2750G>T (p.Trp917Leu)
c.2636G>T (p.Trp879Leu)
c.2780G>T (p.Trp927Leu)
c.2555G>T (p.Trp852Leu)
 gnomAD v4 COSMIC
19g.7555009G>ACA403129877PNPLA6c.2751G>A (p.Trp917Ter)
c.2637G>A (p.Trp879Ter)
c.2781G>A (p.Trp927Ter)
c.2556G>A (p.Trp852Ter)
19g.7555009G>CCA403129879PNPLA6c.2751G>C (p.Trp917Cys)
c.2637G>C (p.Trp879Cys)
c.2781G>C (p.Trp927Cys)
c.2556G>C (p.Trp852Cys)
19g.7555009G>TCA403129882PNPLA6c.2751G>T (p.Trp917Cys)
c.2637G>T (p.Trp879Cys)
c.2781G>T (p.Trp927Cys)
c.2556G>T (p.Trp852Cys)
 gnomAD v4
19g.7555010T>ACA403129889PNPLA6c.2752T>A (p.Cys918Ser)
c.2638T>A (p.Cys880Ser)
c.2782T>A (p.Cys928Ser)
c.2557T>A (p.Cys853Ser)
19g.7555010T>CCA403129888PNPLA6c.2752T>C (p.Cys918Arg)
c.2638T>C (p.Cys880Arg)
c.2782T>C (p.Cys928Arg)
c.2557T>C (p.Cys853Arg)
19g.7555010T>GCA403129885PNPLA6c.2752T>G (p.Cys918Gly)
c.2638T>G (p.Cys880Gly)
c.2782T>G (p.Cys928Gly)
c.2557T>G (p.Cys853Gly)
19g.7555011G>ACA403129890PNPLA6c.2753G>A (p.Cys918Tyr)
c.2639G>A (p.Cys880Tyr)
c.2783G>A (p.Cys928Tyr)
c.2558G>A (p.Cys853Tyr)
 gnomAD v4
19g.7555011G>CCA9140214PNPLA6c.2753G>C (p.Cys918Ser)
c.2639G>C (p.Cys880Ser)
c.2783G>C (p.Cys928Ser)
c.2558G>C (p.Cys853Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7555011G=CA2320976394PNPLA6c.2753G= (p.Cys918=)
c.2639G= (p.Cys880=)
c.2783G= (p.Cys928=)
c.2558G= (p.Cys853=)
19g.7555011G>TCA403129893PNPLA6c.2753G>T (p.Cys918Phe)
c.2639G>T (p.Cys880Phe)
c.2783G>T (p.Cys928Phe)
c.2558G>T (p.Cys853Phe)
19g.7555012C>ACA403129895PNPLA6c.2754C>A (p.Cys918Ter)
c.2640C>A (p.Cys880Ter)
c.2784C>A (p.Cys928Ter)
c.2559C>A (p.Cys853Ter)
19g.7555012C=CA2320976395PNPLA6c.2754C= (p.Cys918=)
c.2640C= (p.Cys880=)
c.2784C= (p.Cys928=)
c.2559C= (p.Cys853=)
19g.7555012C>GCA403129898PNPLA6c.2754C>G (p.Cys918Trp)
c.2640C>G (p.Cys880Trp)
c.2784C>G (p.Cys928Trp)
c.2559C>G (p.Cys853Trp)
19g.7555012C>TCA9140215PNPLA6c.2754C>T (p.Cys918=)
c.2640C>T (p.Cys880=)
c.2784C>T (p.Cys928=)
c.2559C>T (p.Cys853=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7555013T>ACA403129903PNPLA6c.2755T>A (p.Ser919Thr)
c.2641T>A (p.Ser881Thr)
c.2785T>A (p.Ser929Thr)
c.2560T>A (p.Ser854Thr)
 COSMIC COSMIC
19g.7555013T>CCA403129905PNPLA6c.2755T>C (p.Ser919Pro)
c.2641T>C (p.Ser881Pro)
c.2785T>C (p.Ser929Pro)
c.2560T>C (p.Ser854Pro)
19g.7555013T>GCA403129907PNPLA6c.2755T>G (p.Ser919Ala)
c.2641T>G (p.Ser881Ala)
c.2785T>G (p.Ser929Ala)
c.2560T>G (p.Ser854Ala)
19g.7555014delCA2587956035PNPLA6c.2756del (p.Ser919TrpfsTer?)
c.2642del (p.Ser881TrpfsTer?)
c.2786del (p.Ser929TrpfsTer?)
c.2561del (p.Ser854TrpfsTer?)
 gnomAD v4
19g.7555014C>ACA403129911PNPLA6c.2756C>A (p.Ser919Ter)
c.2642C>A (p.Ser881Ter)
c.2786C>A (p.Ser929Ter)
c.2561C>A (p.Ser854Ter)
 gnomAD v4
19g.7555014C>GCA403129913PNPLA6c.2756C>G (p.Ser919Trp)
c.2642C>G (p.Ser881Trp)
c.2786C>G (p.Ser929Trp)
c.2561C>G (p.Ser854Trp)
19g.7555014C>TCA403129915PNPLA6c.2756C>T (p.Ser919Leu)
c.2642C>T (p.Ser881Leu)
c.2786C>T (p.Ser929Leu)
c.2561C>T (p.Ser854Leu)
 COSMIC COSMIC
19g.7555015G>ACA9140216PNPLA6c.2757G>A (p.Ser919=)
c.2643G>A (p.Ser881=)
c.2787G>A (p.Ser929=)
c.2562G>A (p.Ser854=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7555015G>CCA505404245PNPLA6c.2757G>C (p.Ser919=)
c.2643G>C (p.Ser881=)
c.2787G>C (p.Ser929=)
c.2562G>C (p.Ser854=)
 dbSNP
19g.7555015G=CA2320976396PNPLA6c.2757G= (p.Ser919=)
c.2643G= (p.Ser881=)
c.2787G= (p.Ser929=)
c.2562G= (p.Ser854=)
19g.7555015G>TCA505404244PNPLA6c.2757G>T (p.Ser919=)
c.2643G>T (p.Ser881=)
c.2787G>T (p.Ser929=)
c.2562G>T (p.Ser854=)
 gnomAD v4
19g.7555018delCA2587956036PNPLA6c.2760del (p.His921ThrfsTer?)
c.2646del (p.His883ThrfsTer?)
c.2790del (p.His931ThrfsTer?)
c.2565del (p.His856ThrfsTer?)
 gnomAD v4
19g.7555016G>ACA403129923PNPLA6c.2758G>A (p.Gly920Arg)
c.2644G>A (p.Gly882Arg)
c.2788G>A (p.Gly930Arg)
c.2563G>A (p.Gly855Arg)
 gnomAD v4
19g.7555016G>CCA403129921PNPLA6c.2758G>C (p.Gly920Arg)
c.2644G>C (p.Gly882Arg)
c.2788G>C (p.Gly930Arg)
c.2563G>C (p.Gly855Arg)
19g.7555016G>TCA403129918PNPLA6c.2758G>T (p.Gly920Trp)
c.2644G>T (p.Gly882Trp)
c.2788G>T (p.Gly930Trp)
c.2563G>T (p.Gly855Trp)
 gnomAD v4
19g.7555017G>ACA403129929PNPLA6c.2759G>A (p.Gly920Glu)
c.2645G>A (p.Gly882Glu)
c.2789G>A (p.Gly930Glu)
c.2564G>A (p.Gly855Glu)
19g.7555017G>CCA403129926PNPLA6c.2759G>C (p.Gly920Ala)
c.2645G>C (p.Gly882Ala)
c.2789G>C (p.Gly930Ala)
c.2564G>C (p.Gly855Ala)
19g.7555017G>TCA403129932PNPLA6c.2759G>T (p.Gly920Val)
c.2645G>T (p.Gly882Val)
c.2789G>T (p.Gly930Val)
c.2564G>T (p.Gly855Val)
 gnomAD v4
19g.7555017_7555019delCA2587956037PNPLA6c.2759_2761del (p.Gly920_His921delinsAsp)
c.2645_2647del (p.Gly882_His883delinsAsp)
c.2789_2791del (p.Gly930_His931delinsAsp)
c.2564_2566del (p.Gly855_His856delinsAsp)
 gnomAD v4
19g.7555018G>ACA505404246PNPLA6c.2760G>A (p.Gly920=)
c.2646G>A (p.Gly882=)
c.2790G>A (p.Gly930=)
c.2565G>A (p.Gly855=)
 gnomAD v4
19g.7555018G>CCA505404247PNPLA6c.2760G>C (p.Gly920=)
c.2646G>C (p.Gly882=)
c.2790G>C (p.Gly930=)
c.2565G>C (p.Gly855=)
 gnomAD v4
19g.7555018G=CA2320976397PNPLA6c.2760G= (p.Gly920=)
c.2646G= (p.Gly882=)
c.2790G= (p.Gly930=)
c.2565G= (p.Gly855=)
19g.7555018G>TCA9140217PNPLA6c.2760G>T (p.Gly920=)
c.2646G>T (p.Gly882=)
c.2790G>T (p.Gly930=)
c.2565G>T (p.Gly855=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7555019C>ACA403129936PNPLA6c.2761C>A (p.His921Asn)
c.2647C>A (p.His883Asn)
c.2791C>A (p.His931Asn)
c.2566C>A (p.His856Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7555019C=CA2320976398PNPLA6c.2761C= (p.His921=)
c.2647C= (p.His883=)
c.2791C= (p.His931=)
c.2566C= (p.His856=)
19g.7555019C>GCA403129939PNPLA6c.2761C>G (p.His921Asp)
c.2647C>G (p.His883Asp)
c.2791C>G (p.His931Asp)
c.2566C>G (p.His856Asp)
19g.7555019C>TCA403129941PNPLA6c.2761C>T (p.His921Tyr)
c.2647C>T (p.His883Tyr)
c.2791C>T (p.His931Tyr)
c.2566C>T (p.His856Tyr)
 gnomAD v4
19g.7555020A>CCA403129944PNPLA6c.2762A>C (p.His921Pro)
c.2648A>C (p.His883Pro)
c.2792A>C (p.His931Pro)
c.2567A>C (p.His856Pro)
19g.7555020A>GCA403129946PNPLA6c.2762A>G (p.His921Arg)
c.2648A>G (p.His883Arg)
c.2792A>G (p.His931Arg)
c.2567A>G (p.His856Arg)
19g.7555020A>TCA403129949PNPLA6c.2762A>T (p.His921Leu)
c.2648A>T (p.His883Leu)
c.2792A>T (p.His931Leu)
c.2567A>T (p.His856Leu)
19g.7555021C>ACA403129950PNPLA6c.2763C>A (p.His921Gln)
c.2649C>A (p.His883Gln)
c.2793C>A (p.His931Gln)
c.2568C>A (p.His856Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7555021C=CA2320976399PNPLA6c.2763C= (p.His921=)
c.2649C= (p.His883=)
c.2793C= (p.His931=)
c.2568C= (p.His856=)
19g.7555021C>GCA403129951PNPLA6c.2763C>G (p.His921Gln)
c.2649C>G (p.His883Gln)
c.2793C>G (p.His931Gln)
c.2568C>G (p.His856Gln)
 gnomAD v4
19g.7555021C>TCA9140218PNPLA6c.2763C>T (p.His921=)
c.2649C>T (p.His883=)
c.2793C>T (p.His931=)
c.2568C>T (p.His856=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7555022C>ACA403129956PNPLA6c.2764C>A (p.Leu922Met)
c.2650C>A (p.Leu884Met)
c.2794C>A (p.Leu932Met)
c.2569C>A (p.Leu857Met)
 gnomAD v4
19g.7555022C>GCA403129959PNPLA6c.2764C>G (p.Leu922Val)
c.2650C>G (p.Leu884Val)
c.2794C>G (p.Leu932Val)
c.2569C>G (p.Leu857Val)
19g.7555022C>TCA505404248PNPLA6c.2764C>T (p.Leu922=)
c.2650C>T (p.Leu884=)
c.2794C>T (p.Leu932=)
c.2569C>T (p.Leu857=)
 gnomAD v4
19g.7555023T>ACA403129964PNPLA6c.2765T>A (p.Leu922Gln)
c.2651T>A (p.Leu884Gln)
c.2795T>A (p.Leu932Gln)
c.2570T>A (p.Leu857Gln)
19g.7555023T>CCA403129963PNPLA6c.2765T>C (p.Leu922Pro)
c.2651T>C (p.Leu884Pro)
c.2795T>C (p.Leu932Pro)
c.2570T>C (p.Leu857Pro)
 gnomAD v4
19g.7555023T>GCA403129961PNPLA6c.2765T>G (p.Leu922Arg)
c.2651T>G (p.Leu884Arg)
c.2795T>G (p.Leu932Arg)
c.2570T>G (p.Leu857Arg)
19g.7555024G>ACA505404249PNPLA6c.2766G>A (p.Leu922=)
c.2652G>A (p.Leu884=)
c.2796G>A (p.Leu932=)
c.2571G>A (p.Leu857=)
 gnomAD v4
19g.7555024G>CCA505404250PNPLA6c.2766G>C (p.Leu922=)
c.2652G>C (p.Leu884=)
c.2796G>C (p.Leu932=)
c.2571G>C (p.Leu857=)
19g.7555024G>TCA505404251PNPLA6c.2766G>T (p.Leu922=)
c.2652G>T (p.Leu884=)
c.2796G>T (p.Leu932=)
c.2571G>T (p.Leu857=)
19g.7555025C>ACA403129968PNPLA6c.2767C>A (p.His923Asn)
c.2653C>A (p.His885Asn)
c.2797C>A (p.His933Asn)
c.2572C>A (p.His858Asn)
 gnomAD v4
19g.7555025C>GCA403129970PNPLA6c.2767C>G (p.His923Asp)
c.2653C>G (p.His885Asp)
c.2797C>G (p.His933Asp)
c.2572C>G (p.His858Asp)
19g.7555025C>TCA403129973PNPLA6c.2767C>T (p.His923Tyr)
c.2653C>T (p.His885Tyr)
c.2797C>T (p.His933Tyr)
c.2572C>T (p.His858Tyr)
19g.7555025_7555034delCA2587956038PNPLA6c.2767_2776del (p.His923ValfsTer?)
c.2653_2662del (p.His885ValfsTer?)
c.2797_2806del (p.His933ValfsTer?)
c.2572_2581del (p.His858ValfsTer?)
 gnomAD v4
19g.7555026A>CCA403129975PNPLA6c.2768A>C (p.His923Pro)
c.2654A>C (p.His885Pro)
c.2798A>C (p.His933Pro)
c.2573A>C (p.His858Pro)
19g.7555026A>GCA403129977PNPLA6c.2768A>G (p.His923Arg)
c.2654A>G (p.His885Arg)
c.2798A>G (p.His933Arg)
c.2573A>G (p.His858Arg)
19g.7555026A>TCA403129979PNPLA6c.2768A>T (p.His923Leu)
c.2654A>T (p.His885Leu)
c.2798A>T (p.His933Leu)
c.2573A>T (p.His858Leu)
19g.7555027C>ACA403129981PNPLA6c.2769C>A (p.His923Gln)
c.2655C>A (p.His885Gln)
c.2799C>A (p.His933Gln)
c.2574C>A (p.His858Gln)
 dbSNP
19g.7555027C=CA2320976400PNPLA6c.2769C= (p.His923=)
c.2655C= (p.His885=)
c.2799C= (p.His933=)
c.2574C= (p.His858=)
19g.7555027C>GCA403129982PNPLA6c.2769C>G (p.His923Gln)
c.2655C>G (p.His885Gln)
c.2799C>G (p.His933Gln)
c.2574C>G (p.His858Gln)
 gnomAD v4
19g.7555027C>TCA304879192PNPLA6c.2769C>T (p.His923=)
c.2655C>T (p.His885=)
c.2799C>T (p.His933=)
c.2574C>T (p.His858=)
 dbSNP
19g.7555028C>ACA403129986PNPLA6c.2770C>A (p.Leu924Met)
c.2656C>A (p.Leu886Met)
c.2800C>A (p.Leu934Met)
c.2575C>A (p.Leu859Met)
19g.7555028C>GCA403129988PNPLA6c.2770C>G (p.Leu924Val)
c.2656C>G (p.Leu886Val)
c.2800C>G (p.Leu934Val)
c.2575C>G (p.Leu859Val)
19g.7555028C>TCA505404252PNPLA6c.2770C>T (p.Leu924=)
c.2656C>T (p.Leu886=)
c.2800C>T (p.Leu934=)
c.2575C>T (p.Leu859=)
 gnomAD v4
19g.7555029T>ACA403129991PNPLA6c.2771T>A (p.Leu924Gln)
c.2657T>A (p.Leu886Gln)
c.2801T>A (p.Leu934Gln)
c.2576T>A (p.Leu859Gln)
19g.7555029T>CCA403129993PNPLA6c.2771T>C (p.Leu924Pro)
c.2657T>C (p.Leu886Pro)
c.2801T>C (p.Leu934Pro)
c.2576T>C (p.Leu859Pro)
19g.7555029T>GCA403129995PNPLA6c.2771T>G (p.Leu924Arg)
c.2657T>G (p.Leu886Arg)
c.2801T>G (p.Leu934Arg)
c.2576T>G (p.Leu859Arg)
19g.7555030G>ACA505404253PNPLA6c.2772G>A (p.Leu924=)
c.2658G>A (p.Leu886=)
c.2802G>A (p.Leu934=)
c.2577G>A (p.Leu859=)
 dbSNP gnomAD v2
19g.7555030G>CCA505404254PNPLA6c.2772G>C (p.Leu924=)
c.2658G>C (p.Leu886=)
c.2802G>C (p.Leu934=)
c.2577G>C (p.Leu859=)
19g.7555030G=CA2320976401PNPLA6c.2772G= (p.Leu924=)
c.2658G= (p.Leu886=)
c.2802G= (p.Leu934=)
c.2577G= (p.Leu859=)
19g.7555030G>TCA505404255PNPLA6c.2772G>T (p.Leu924=)
c.2658G>T (p.Leu886=)
c.2802G>T (p.Leu934=)
c.2577G>T (p.Leu859=)
19g.7555031C>ACA403130001PNPLA6c.2773C>A (p.Arg925Ser)
c.2659C>A (p.Arg887Ser)
c.2803C>A (p.Arg935Ser)
c.2578C>A (p.Arg860Ser)
 gnomAD v4
19g.7555031C>GCA403130003PNPLA6c.2773C>G (p.Arg925Gly)
c.2659C>G (p.Arg887Gly)
c.2803C>G (p.Arg935Gly)
c.2578C>G (p.Arg860Gly)
19g.7555031C>TCA403129998PNPLA6c.2773C>T (p.Arg925Cys)
c.2659C>T (p.Arg887Cys)
c.2803C>T (p.Arg935Cys)
c.2578C>T (p.Arg860Cys)
 gnomAD v4
19g.7555032G>ACA9140219PNPLA6c.2774G>A (p.Arg925His)
c.2660G>A (p.Arg887His)
c.2804G>A (p.Arg935His)
c.2579G>A (p.Arg860His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7555032G>CCA403130009PNPLA6c.2774G>C (p.Arg925Pro)
c.2660G>C (p.Arg887Pro)
c.2804G>C (p.Arg935Pro)
c.2579G>C (p.Arg860Pro)
19g.7555032G=CA2320976402PNPLA6c.2774G= (p.Arg925=)
c.2660G= (p.Arg887=)
c.2804G= (p.Arg935=)
c.2579G= (p.Arg860=)
19g.7555032G>TCA403130006PNPLA6c.2774G>T (p.Arg925Leu)
c.2660G>T (p.Arg887Leu)
c.2804G>T (p.Arg935Leu)
c.2579G>T (p.Arg860Leu)
 dbSNP gnomAD v4
19g.7555033C>ACA505404256PNPLA6c.2775C>A (p.Arg925=)
c.2661C>A (p.Arg887=)
c.2805C>A (p.Arg935=)
c.2580C>A (p.Arg860=)
 gnomAD v4
19g.7555033C=CA2320976403PNPLA6c.2775C= (p.Arg925=)
c.2661C= (p.Arg887=)
c.2805C= (p.Arg935=)
c.2580C= (p.Arg860=)
19g.7555033C>GCA505404258PNPLA6c.2775C>G (p.Arg925=)
c.2661C>G (p.Arg887=)
c.2805C>G (p.Arg935=)
c.2580C>G (p.Arg860=)
 dbSNP gnomAD v3 gnomAD v4
19g.7555033C>TCA505404257PNPLA6c.2775C>T (p.Arg925=)
c.2661C>T (p.Arg887=)
c.2805C>T (p.Arg935=)
c.2580C>T (p.Arg860=)
 ClinVar dbSNP gnomAD v4
19g.7555034T>ACA403130012PNPLA6c.2776T>A (p.Cys926Ser)
c.2662T>A (p.Cys888Ser)
c.2806T>A (p.Cys936Ser)
c.2581T>A (p.Cys861Ser)
19g.7555034T>CCA403130013PNPLA6c.2776T>C (p.Cys926Arg)
c.2662T>C (p.Cys888Arg)
c.2806T>C (p.Cys936Arg)
c.2581T>C (p.Cys861Arg)
 gnomAD v4
19g.7555034T>GCA403130015PNPLA6c.2776T>G (p.Cys926Gly)
c.2662T>G (p.Cys888Gly)
c.2806T>G (p.Cys936Gly)
c.2581T>G (p.Cys861Gly)
19g.7555035G>ACA403130019PNPLA6c.2777G>A (p.Cys926Tyr)
c.2663G>A (p.Cys888Tyr)
c.2807G>A (p.Cys936Tyr)
c.2582G>A (p.Cys861Tyr)
 dbSNP gnomAD v2
19g.7555035G>CCA403130021PNPLA6c.2777G>C (p.Cys926Ser)
c.2663G>C (p.Cys888Ser)
c.2807G>C (p.Cys936Ser)
c.2582G>C (p.Cys861Ser)
19g.7555035G=CA2320976404PNPLA6c.2777G= (p.Cys926=)
c.2663G= (p.Cys888=)
c.2807G= (p.Cys936=)
c.2582G= (p.Cys861=)
19g.7555035G>TCA403130024PNPLA6c.2777G>T (p.Cys926Phe)
c.2663G>T (p.Cys888Phe)
c.2807G>T (p.Cys936Phe)
c.2582G>T (p.Cys861Phe)
19g.7555036T>ACA403130026PNPLA6c.2778T>A (p.Cys926Ter)
c.2664T>A (p.Cys888Ter)
c.2808T>A (p.Cys936Ter)
c.2583T>A (p.Cys861Ter)
19g.7555036T>CCA505404259PNPLA6c.2778T>C (p.Cys926=)
c.2664T>C (p.Cys888=)
c.2808T>C (p.Cys936=)
c.2583T>C (p.Cys861=)
19g.7555036T>GCA403130029PNPLA6c.2778T>G (p.Cys926Trp)
c.2664T>G (p.Cys888Trp)
c.2808T>G (p.Cys936Trp)
c.2583T>G (p.Cys861Trp)
19g.7555037C>ACA403130033PNPLA6c.2779C>A (p.Pro927Thr)
c.2665C>A (p.Pro889Thr)
c.2809C>A (p.Pro937Thr)
c.2584C>A (p.Pro862Thr)
 gnomAD v4
19g.7555037C=CA2320976405PNPLA6c.2779C= (p.Pro927=)
c.2665C= (p.Pro889=)
c.2809C= (p.Pro937=)
c.2584C= (p.Pro862=)
19g.7555037C>GCA403130035PNPLA6c.2779C>G (p.Pro927Ala)
c.2665C>G (p.Pro889Ala)
c.2809C>G (p.Pro937Ala)
c.2584C>G (p.Pro862Ala)
 dbSNP
19g.7555037C>TCA403130037PNPLA6c.2779C>T (p.Pro927Ser)
c.2665C>T (p.Pro889Ser)
c.2809C>T (p.Pro937Ser)
c.2584C>T (p.Pro862Ser)
19g.7555037_7555052delinsCCGCGCCGCCTCTTTTCA2320976406PNPLA6c.2779_2794delinsCCGCGCCGCCTCTTTT (p.Pro927=)
c.2665_2680delinsCCGCGCCGCCTCTTTT (p.Pro889=)
c.2809_2824delinsCCGCGCCGCCTCTTTT (p.Pro937=)
c.2584_2599delinsCCGCGCCGCCTCTTTT (p.Pro862=)
19g.7555037_7555060dupCA2813477612PNPLA6c.2779_2802dup (p.Arg934_Ser935insProArgArgLeuPheSerArgArg)
c.2665_2688dup (p.Arg896_Ser897insProArgArgLeuPheSerArgArg)
c.2809_2832dup (p.Arg944_Ser945insProArgArgLeuPheSerArgArg)
c.2584_2607dup (p.Arg869_Ser870insProArgArgLeuPheSerArgArg)
19g.7555038C>ACA403130043PNPLA6c.2780C>A (p.Pro927Gln)
c.2666C>A (p.Pro889Gln)
c.2810C>A (p.Pro937Gln)
c.2585C>A (p.Pro862Gln)
 gnomAD v4
19g.7555038C=CA2320976408PNPLA6c.2780C= (p.Pro927=)
c.2666C= (p.Pro889=)
c.2810C= (p.Pro937=)
c.2585C= (p.Pro862=)
19g.7555038C>GCA403130041PNPLA6c.2780C>G (p.Pro927Arg)
c.2666C>G (p.Pro889Arg)
c.2810C>G (p.Pro937Arg)
c.2585C>G (p.Pro862Arg)
 gnomAD v4
19g.7555038C>TCA9140220PNPLA6c.2780C>T (p.Pro927Leu)
c.2666C>T (p.Pro889Leu)
c.2810C>T (p.Pro937Leu)
c.2585C>T (p.Pro862Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7555046_7555060delCA2320976407PNPLA6c.2788_2802del (p.Leu930_Arg934del)
c.2674_2688del (p.Leu892_Arg896del)
c.2818_2832del (p.Leu940_Arg944del)
c.2593_2607del (p.Leu865_Arg869del)
 dbSNP
19g.7555039G>ACA505404260PNPLA6c.2781G>A (p.Pro927=)
c.2667G>A (p.Pro889=)
c.2811G>A (p.Pro937=)
c.2586G>A (p.Pro862=)
 dbSNP gnomAD v4
19g.7555039G>CCA505404261PNPLA6c.2781G>C (p.Pro927=)
c.2667G>C (p.Pro889=)
c.2811G>C (p.Pro937=)
c.2586G>C (p.Pro862=)
 dbSNP gnomAD v2
19g.7555039G=CA2320976409PNPLA6c.2781G= (p.Pro927=)
c.2667G= (p.Pro889=)
c.2811G= (p.Pro937=)
c.2586G= (p.Pro862=)
19g.7555039G>TCA505404262PNPLA6c.2781G>T (p.Pro927=)
c.2667G>T (p.Pro889=)
c.2811G>T (p.Pro937=)
c.2586G>T (p.Pro862=)
 gnomAD v4
19g.7555040C>ACA9140221PNPLA6c.2782C>A (p.Arg928Ser)
c.2668C>A (p.Arg890Ser)
c.2812C>A (p.Arg938Ser)
c.2587C>A (p.Arg863Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7555040C=CA2320976410PNPLA6c.2782C= (p.Arg928=)
c.2668C= (p.Arg890=)
c.2812C= (p.Arg938=)
c.2587C= (p.Arg863=)
19g.7555040C>GCA403130047PNPLA6c.2782C>G (p.Arg928Gly)
c.2668C>G (p.Arg890Gly)
c.2812C>G (p.Arg938Gly)
c.2587C>G (p.Arg863Gly)
19g.7555040C>TCA403130049PNPLA6c.2782C>T (p.Arg928Cys)
c.2668C>T (p.Arg890Cys)
c.2812C>T (p.Arg938Cys)
c.2587C>T (p.Arg863Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7555044_7555046delCA2576598035PNPLA6c.2786_2788del (p.Arg929del)
c.2672_2674del (p.Arg891del)
c.2816_2818del (p.Arg939del)
c.2591_2593del (p.Arg864del)
19g.7555041G>ACA118370PNPLA6c.2783G>A (p.Arg928His)
c.2669G>A (p.Arg890His)
c.2813G>A (p.Arg938His)
c.2588G>A (p.Arg863His)
 ClinVar dbSNP gnomAD v4
19g.7555041G>CCA403130053PNPLA6c.2783G>C (p.Arg928Pro)
c.2669G>C (p.Arg890Pro)
c.2813G>C (p.Arg938Pro)
c.2588G>C (p.Arg863Pro)
19g.7555041G=CA2320976411PNPLA6c.2783G= (p.Arg928=)
c.2669G= (p.Arg890=)
c.2813G= (p.Arg938=)
c.2588G= (p.Arg863=)
19g.7555041G>TCA403130056PNPLA6c.2783G>T (p.Arg928Leu)
c.2669G>T (p.Arg890Leu)
c.2813G>T (p.Arg938Leu)
c.2588G>T (p.Arg863Leu)
 gnomAD v4

Number of alleles fetched