Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51950023_51950049delCA2573053842ATP7Bc.*530_*556del (n.*530_*556del)
c.*1441_*1467del (n.*1441_*1467del)
c.2211_2237del (p.Ile737_Gln745del)
c.2697_2723del (p.Ile899_Gln907del)
c.2364_2390del (p.Ile788_Gln796del)
c.2445_2471del (p.Ile815_Gln823del)
c.2463_2489del (p.Ile821_Gln829del)
c.1767_1793del (p.Ile589_Gln597del)
c.1407_1433del (p.Ile469_Gln477del)
c.658_684del
n.3495_3521del
n.2042_2068del
c.2553_2579del (p.Ile851_Gln859del)
n.212-3562_212-3536del
c.2601_2627del (p.Ile867_Gln875del)
c.2661_2687del (p.Ile887_Gln895del)
c.513_539del (p.Ile171_Gln179del)
c.2283_2309del (p.Ile761_Gln769del)
c.1365_1391del (p.Ile455_Gln463del)
n.2916_2942del
 ClinVar dbSNP
13g.51950022_51950078delCA2695218785ATP7Bc.*495_*551del (n.*495_*551del)
c.*1406_*1462del (n.*1406_*1462del)
c.2176_2232del (p.Thr726_Ala744del)
c.2662_2718del (p.Thr888_Ala906del)
c.2329_2385del (p.Thr777_Ala795del)
c.2410_2466del (p.Thr804_Ala822del)
c.2428_2484del (p.Thr810_Ala828del)
c.1732_1788del (p.Thr578_Ala596del)
c.1372_1428del (p.Thr458_Ala476del)
c.623_679del
n.3460_3516del
n.2007_2063del
c.2518_2574del (p.Thr840_Ala858del)
n.212-3597_212-3541del
c.2566_2622del (p.Thr856_Ala874del)
c.2626_2682del (p.Thr876_Ala894del)
c.478_534del (p.Thr160_Ala178del)
c.2248_2304del (p.Thr750_Ala768del)
c.1330_1386del (p.Thr444_Ala462del)
n.2881_2937del
13g.51950048C>ACA388034282ATP7Bc.*522G>T (n.*522G>T)
c.*1433G>T (n.*1433G>T)
c.2203G>T (p.Ala735Ser)
c.2689G>T (p.Ala897Ser)
c.2356G>T (p.Ala786Ser)
c.2437G>T (p.Ala813Ser)
c.2455G>T (p.Ala819Ser)
c.1759G>T (p.Ala587Ser)
c.1399G>T (p.Ala467Ser)
c.650G>T
n.3487G>T
n.2034G>T
c.2545G>T (p.Ala849Ser)
n.212-3570G>T
c.2593G>T (p.Ala865Ser)
c.2653G>T (p.Ala885Ser)
c.505G>T (p.Ala169Ser)
c.2275G>T (p.Ala759Ser)
c.1357G>T (p.Ala453Ser)
n.2908G>T
13g.51950048C>GCA388034274ATP7Bc.*522G>C (n.*522G>C)
c.*1433G>C (n.*1433G>C)
c.2203G>C (p.Ala735Pro)
c.2689G>C (p.Ala897Pro)
c.2356G>C (p.Ala786Pro)
c.2437G>C (p.Ala813Pro)
c.2455G>C (p.Ala819Pro)
c.1759G>C (p.Ala587Pro)
c.1399G>C (p.Ala467Pro)
c.650G>C
n.3487G>C
n.2034G>C
c.2545G>C (p.Ala849Pro)
n.212-3570G>C
c.2593G>C (p.Ala865Pro)
c.2653G>C (p.Ala885Pro)
c.505G>C (p.Ala169Pro)
c.2275G>C (p.Ala759Pro)
c.1357G>C (p.Ala453Pro)
n.2908G>C
13g.51950048C>TCA388034280ATP7Bc.*522G>A (n.*522G>A)
c.*1433G>A (n.*1433G>A)
c.2203G>A (p.Ala735Thr)
c.2689G>A (p.Ala897Thr)
c.2356G>A (p.Ala786Thr)
c.2437G>A (p.Ala813Thr)
c.2455G>A (p.Ala819Thr)
c.1759G>A (p.Ala587Thr)
c.1399G>A (p.Ala467Thr)
c.650G>A
n.3487G>A
n.2034G>A
c.2545G>A (p.Ala849Thr)
n.212-3570G>A
c.2593G>A (p.Ala865Thr)
c.2653G>A (p.Ala885Thr)
c.505G>A (p.Ala169Thr)
c.2275G>A (p.Ala759Thr)
c.1357G>A (p.Ala453Thr)
n.2908G>A
13g.51950049C>ACA388034285ATP7Bc.*521G>T (n.*521G>T)
c.*1432G>T (n.*1432G>T)
c.2202G>T (p.Leu734Phe)
c.2688G>T (p.Leu896Phe)
c.2355G>T (p.Leu785Phe)
c.2436G>T (p.Leu812Phe)
c.2454G>T (p.Leu818Phe)
c.1758G>T (p.Leu586Phe)
c.1398G>T (p.Leu466Phe)
c.649G>T
n.3486G>T
n.2033G>T
c.2544G>T (p.Leu848Phe)
n.212-3571G>T
c.2592G>T (p.Leu864Phe)
c.2652G>T (p.Leu884Phe)
c.504G>T (p.Leu168Phe)
c.2274G>T (p.Leu758Phe)
c.1356G>T (p.Leu452Phe)
n.2907G>T
13g.51950049C>GCA388034296ATP7Bc.*521G>C (n.*521G>C)
c.*1432G>C (n.*1432G>C)
c.2202G>C (p.Leu734Phe)
c.2688G>C (p.Leu896Phe)
c.2355G>C (p.Leu785Phe)
c.2436G>C (p.Leu812Phe)
c.2454G>C (p.Leu818Phe)
c.1758G>C (p.Leu586Phe)
c.1398G>C (p.Leu466Phe)
c.649G>C
n.3486G>C
n.2033G>C
c.2544G>C (p.Leu848Phe)
n.212-3571G>C
c.2592G>C (p.Leu864Phe)
c.2652G>C (p.Leu884Phe)
c.504G>C (p.Leu168Phe)
c.2274G>C (p.Leu758Phe)
c.1356G>C (p.Leu452Phe)
n.2907G>C
13g.51950049C>TCA484024377ATP7Bc.*521G>A (n.*521G>A)
c.*1432G>A (n.*1432G>A)
c.2202G>A (p.Leu734=)
c.2688G>A (p.Leu896=)
c.2355G>A (p.Leu785=)
c.2436G>A (p.Leu812=)
c.2454G>A (p.Leu818=)
c.1758G>A (p.Leu586=)
c.1398G>A (p.Leu466=)
c.649G>A
n.3486G>A
n.2033G>A
c.2544G>A (p.Leu848=)
n.212-3571G>A
c.2592G>A (p.Leu864=)
c.2652G>A (p.Leu884=)
c.504G>A (p.Leu168=)
c.2274G>A (p.Leu758=)
c.1356G>A (p.Leu452=)
n.2907G>A
13g.51950050A>CCA388034298ATP7Bc.*520T>G (n.*520T>G)
c.*1431T>G (n.*1431T>G)
c.2201T>G (p.Leu734Trp)
c.2687T>G (p.Leu896Trp)
c.2354T>G (p.Leu785Trp)
c.2435T>G (p.Leu812Trp)
c.2453T>G (p.Leu818Trp)
c.1757T>G (p.Leu586Trp)
c.1397T>G (p.Leu466Trp)
c.648T>G
n.3485T>G
n.2032T>G
c.2543T>G (p.Leu848Trp)
n.212-3572T>G
c.2591T>G (p.Leu864Trp)
c.2651T>G (p.Leu884Trp)
c.503T>G (p.Leu168Trp)
c.2273T>G (p.Leu758Trp)
c.1355T>G (p.Leu452Trp)
n.2906T>G
 gnomAD v4
13g.51950050A>GCA388034299ATP7Bc.*520T>C (n.*520T>C)
c.*1431T>C (n.*1431T>C)
c.2201T>C (p.Leu734Ser)
c.2687T>C (p.Leu896Ser)
c.2354T>C (p.Leu785Ser)
c.2435T>C (p.Leu812Ser)
c.2453T>C (p.Leu818Ser)
c.1757T>C (p.Leu586Ser)
c.1397T>C (p.Leu466Ser)
c.648T>C
n.3485T>C
n.2032T>C
c.2543T>C (p.Leu848Ser)
n.212-3572T>C
c.2591T>C (p.Leu864Ser)
c.2651T>C (p.Leu884Ser)
c.503T>C (p.Leu168Ser)
c.2273T>C (p.Leu758Ser)
c.1355T>C (p.Leu452Ser)
n.2906T>C
13g.51950050A>TCA388034300ATP7Bc.*520T>A (n.*520T>A)
c.*1431T>A (n.*1431T>A)
c.2201T>A (p.Leu734Ter)
c.2687T>A (p.Leu896Ter)
c.2354T>A (p.Leu785Ter)
c.2435T>A (p.Leu812Ter)
c.2453T>A (p.Leu818Ter)
c.1757T>A (p.Leu586Ter)
c.1397T>A (p.Leu466Ter)
c.648T>A
n.3485T>A
n.2032T>A
c.2543T>A (p.Leu848Ter)
n.212-3572T>A
c.2591T>A (p.Leu864Ter)
c.2651T>A (p.Leu884Ter)
c.503T>A (p.Leu168Ter)
c.2273T>A (p.Leu758Ter)
c.1355T>A (p.Leu452Ter)
n.2906T>A
13g.51950052delCA2580087689ATP7Bc.*520del (n.*520del)
c.*1431del (n.*1431del)
c.2201del (p.Leu734TrpfsTer5)
c.2687del (p.Leu896TrpfsTer5)
c.2354del (p.Leu785TrpfsTer5)
c.2435del (p.Leu812TrpfsTer5)
c.2453del (p.Leu818TrpfsTer5)
c.1757del (p.Leu586TrpfsTer5)
c.1397del (p.Leu466TrpfsTer5)
c.648del
n.3485del
n.2032del
c.2543del (p.Leu848TrpfsTer5)
n.212-3572del
c.2591del (p.Leu864TrpfsTer5)
c.2651del (p.Leu884TrpfsTer5)
c.503del (p.Leu168TrpfsTer5)
c.2273del (p.Leu758TrpfsTer5)
c.1355del (p.Leu452TrpfsTer5)
n.2906del
 ClinVar gnomAD v4
13g.51950051A>CCA388034301ATP7Bc.*519T>G (n.*519T>G)
c.*1430T>G (n.*1430T>G)
c.2200T>G (p.Leu734Val)
c.2686T>G (p.Leu896Val)
c.2353T>G (p.Leu785Val)
c.2434T>G (p.Leu812Val)
c.2452T>G (p.Leu818Val)
c.1756T>G (p.Leu586Val)
c.1396T>G (p.Leu466Val)
c.647T>G
n.3484T>G
n.2031T>G
c.2542T>G (p.Leu848Val)
n.212-3573T>G
c.2590T>G (p.Leu864Val)
c.2650T>G (p.Leu884Val)
c.502T>G (p.Leu168Val)
c.2272T>G (p.Leu758Val)
c.1354T>G (p.Leu452Val)
n.2905T>G
13g.51950051A>GCA484024378ATP7Bc.*519T>C (n.*519T>C)
c.*1430T>C (n.*1430T>C)
c.2200T>C (p.Leu734=)
c.2686T>C (p.Leu896=)
c.2353T>C (p.Leu785=)
c.2434T>C (p.Leu812=)
c.2452T>C (p.Leu818=)
c.1756T>C (p.Leu586=)
c.1396T>C (p.Leu466=)
c.647T>C
n.3484T>C
n.2031T>C
c.2542T>C (p.Leu848=)
n.212-3573T>C
c.2590T>C (p.Leu864=)
c.2650T>C (p.Leu884=)
c.502T>C (p.Leu168=)
c.2272T>C (p.Leu758=)
c.1354T>C (p.Leu452=)
n.2905T>C
 gnomAD v4
13g.51950051A>TCA388034304ATP7Bc.*519T>A (n.*519T>A)
c.*1430T>A (n.*1430T>A)
c.2200T>A (p.Leu734Met)
c.2686T>A (p.Leu896Met)
c.2353T>A (p.Leu785Met)
c.2434T>A (p.Leu812Met)
c.2452T>A (p.Leu818Met)
c.1756T>A (p.Leu586Met)
c.1396T>A (p.Leu466Met)
c.647T>A
n.3484T>A
n.2031T>A
c.2542T>A (p.Leu848Met)
n.212-3573T>A
c.2590T>A (p.Leu864Met)
c.2650T>A (p.Leu884Met)
c.502T>A (p.Leu168Met)
c.2272T>A (p.Leu758Met)
c.1354T>A (p.Leu452Met)
n.2905T>A
13g.51950052A>CCA484024379ATP7Bc.*518T>G (n.*518T>G)
c.*1429T>G (n.*1429T>G)
c.2199T>G (p.Thr733=)
c.2685T>G (p.Thr895=)
c.2352T>G (p.Thr784=)
c.2433T>G (p.Thr811=)
c.2451T>G (p.Thr817=)
c.1755T>G (p.Thr585=)
c.1395T>G (p.Thr465=)
c.646T>G
n.3483T>G
n.2030T>G
c.2541T>G (p.Thr847=)
n.212-3574T>G
c.2589T>G (p.Thr863=)
c.2649T>G (p.Thr883=)
c.501T>G (p.Thr167=)
c.2271T>G (p.Thr757=)
c.1353T>G (p.Thr451=)
n.2904T>G
13g.51950052A>GCA484024380ATP7Bc.*518T>C (n.*518T>C)
c.*1429T>C (n.*1429T>C)
c.2199T>C (p.Thr733=)
c.2685T>C (p.Thr895=)
c.2352T>C (p.Thr784=)
c.2433T>C (p.Thr811=)
c.2451T>C (p.Thr817=)
c.1755T>C (p.Thr585=)
c.1395T>C (p.Thr465=)
c.646T>C
n.3483T>C
n.2030T>C
c.2541T>C (p.Thr847=)
n.212-3574T>C
c.2589T>C (p.Thr863=)
c.2649T>C (p.Thr883=)
c.501T>C (p.Thr167=)
c.2271T>C (p.Thr757=)
c.1353T>C (p.Thr451=)
n.2904T>C
13g.51950052A>TCA484024381ATP7Bc.*518T>A (n.*518T>A)
c.*1429T>A (n.*1429T>A)
c.2199T>A (p.Thr733=)
c.2685T>A (p.Thr895=)
c.2352T>A (p.Thr784=)
c.2433T>A (p.Thr811=)
c.2451T>A (p.Thr817=)
c.1755T>A (p.Thr585=)
c.1395T>A (p.Thr465=)
c.646T>A
n.3483T>A
n.2030T>A
c.2541T>A (p.Thr847=)
n.212-3574T>A
c.2589T>A (p.Thr863=)
c.2649T>A (p.Thr883=)
c.501T>A (p.Thr167=)
c.2271T>A (p.Thr757=)
c.1353T>A (p.Thr451=)
n.2904T>A
13g.51950053G>ACA388034310ATP7Bc.*517C>T (n.*517C>T)
c.*1428C>T (n.*1428C>T)
c.2198C>T (p.Thr733Ile)
c.2684C>T (p.Thr895Ile)
c.2351C>T (p.Thr784Ile)
c.2432C>T (p.Thr811Ile)
c.2450C>T (p.Thr817Ile)
c.1754C>T (p.Thr585Ile)
c.1394C>T (p.Thr465Ile)
c.645C>T
n.3482C>T
n.2029C>T
c.2540C>T (p.Thr847Ile)
n.212-3575C>T
c.2588C>T (p.Thr863Ile)
c.2648C>T (p.Thr883Ile)
c.500C>T (p.Thr167Ile)
c.2270C>T (p.Thr757Ile)
c.1352C>T (p.Thr451Ile)
n.2903C>T
 gnomAD v4
13g.51950053G>CCA388034312ATP7Bc.*517C>G (n.*517C>G)
c.*1428C>G (n.*1428C>G)
c.2198C>G (p.Thr733Ser)
c.2684C>G (p.Thr895Ser)
c.2351C>G (p.Thr784Ser)
c.2432C>G (p.Thr811Ser)
c.2450C>G (p.Thr817Ser)
c.1754C>G (p.Thr585Ser)
c.1394C>G (p.Thr465Ser)
c.645C>G
n.3482C>G
n.2029C>G
c.2540C>G (p.Thr847Ser)
n.212-3575C>G
c.2588C>G (p.Thr863Ser)
c.2648C>G (p.Thr883Ser)
c.500C>G (p.Thr167Ser)
c.2270C>G (p.Thr757Ser)
c.1352C>G (p.Thr451Ser)
n.2903C>G
 gnomAD v4
13g.51950053G>TCA388034315ATP7Bc.*517C>A (n.*517C>A)
c.*1428C>A (n.*1428C>A)
c.2198C>A (p.Thr733Asn)
c.2684C>A (p.Thr895Asn)
c.2351C>A (p.Thr784Asn)
c.2432C>A (p.Thr811Asn)
c.2450C>A (p.Thr817Asn)
c.1754C>A (p.Thr585Asn)
c.1394C>A (p.Thr465Asn)
c.645C>A
n.3482C>A
n.2029C>A
c.2540C>A (p.Thr847Asn)
n.212-3575C>A
c.2588C>A (p.Thr863Asn)
c.2648C>A (p.Thr883Asn)
c.500C>A (p.Thr167Asn)
c.2270C>A (p.Thr757Asn)
c.1352C>A (p.Thr451Asn)
n.2903C>A
13g.51950054T>ACA388034318ATP7Bc.*516A>T (n.*516A>T)
c.*1427A>T (n.*1427A>T)
c.2197A>T (p.Thr733Ser)
c.2683A>T (p.Thr895Ser)
c.2350A>T (p.Thr784Ser)
c.2431A>T (p.Thr811Ser)
c.2449A>T (p.Thr817Ser)
c.1753A>T (p.Thr585Ser)
c.1393A>T (p.Thr465Ser)
c.644A>T
n.3481A>T
n.2028A>T
c.2539A>T (p.Thr847Ser)
n.212-3576A>T
c.2587A>T (p.Thr863Ser)
c.2647A>T (p.Thr883Ser)
c.499A>T (p.Thr167Ser)
c.2269A>T (p.Thr757Ser)
c.1351A>T (p.Thr451Ser)
n.2902A>T
 dbSNP
13g.51950054T>CCA6988937ATP7Bc.*516A>G (n.*516A>G)
c.*1427A>G (n.*1427A>G)
c.2197A>G (p.Thr733Ala)
c.2683A>G (p.Thr895Ala)
c.2350A>G (p.Thr784Ala)
c.2431A>G (p.Thr811Ala)
c.2449A>G (p.Thr817Ala)
c.1753A>G (p.Thr585Ala)
c.1393A>G (p.Thr465Ala)
c.644A>G
n.3481A>G
n.2028A>G
c.2539A>G (p.Thr847Ala)
n.212-3576A>G
c.2587A>G (p.Thr863Ala)
c.2647A>G (p.Thr883Ala)
c.499A>G (p.Thr167Ala)
c.2269A>G (p.Thr757Ala)
c.1351A>G (p.Thr451Ala)
n.2902A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950054T>GCA388034323ATP7Bc.*516A>C (n.*516A>C)
c.*1427A>C (n.*1427A>C)
c.2197A>C (p.Thr733Pro)
c.2683A>C (p.Thr895Pro)
c.2350A>C (p.Thr784Pro)
c.2431A>C (p.Thr811Pro)
c.2449A>C (p.Thr817Pro)
c.1753A>C (p.Thr585Pro)
c.1393A>C (p.Thr465Pro)
c.644A>C
n.3481A>C
n.2028A>C
c.2539A>C (p.Thr847Pro)
n.212-3576A>C
c.2587A>C (p.Thr863Pro)
c.2647A>C (p.Thr883Pro)
c.499A>C (p.Thr167Pro)
c.2269A>C (p.Thr757Pro)
c.1351A>C (p.Thr451Pro)
n.2902A>C
 gnomAD v4
13g.51950054T=CA2091541851ATP7Bc.*516A= (n.*516A=)
c.*1427A= (n.*1427A=)
c.2197A= (p.Thr733=)
c.2683A= (p.Thr895=)
c.2350A= (p.Thr784=)
c.2431A= (p.Thr811=)
c.2449A= (p.Thr817=)
c.1753A= (p.Thr585=)
c.1393A= (p.Thr465=)
c.644A=
n.3481A=
n.2028A=
c.2539A= (p.Thr847=)
n.212-3576A=
c.2587A= (p.Thr863=)
c.2647A= (p.Thr883=)
c.499A= (p.Thr167=)
c.2269A= (p.Thr757=)
c.1351A= (p.Thr451=)
n.2902A=
13g.51950054_51950055insACA2695218787ATP7Bc.*515_*516insT (n.*515_*516insT)
c.*1426_*1427insT (n.*1426_*1427insT)
c.2196_2197insT (p.Thr733TyrfsTer?)
c.2682_2683insT (p.Thr895TyrfsTer24)
c.2349_2350insT (p.Thr784TyrfsTer24)
c.2430_2431insT (p.Thr811TyrfsTer24)
c.2448_2449insT (p.Thr817TyrfsTer24)
c.1752_1753insT (p.Thr585TyrfsTer?)
c.1392_1393insT (p.Thr465TyrfsTer24)
c.643_644insT
n.3480_3481insT
n.2027_2028insT
c.2538_2539insT (p.Thr847TyrfsTer24)
n.212-3577_212-3576insT
c.2586_2587insT (p.Thr863TyrfsTer24)
c.2646_2647insT (p.Thr883TyrfsTer24)
c.2196_2197insT (p.Thr733TyrfsTer24)
c.498_499insT (p.Thr167TyrfsTer24)
c.2682_2683insT (p.Thr895TyrfsTer?)
c.2268_2269insT (p.Thr757TyrfsTer24)
c.1350_1351insT (p.Thr451TyrfsTer24)
n.2901_2902insT
13g.51950055G>ACA484024384ATP7Bc.*515C>T (n.*515C>T)
c.*1426C>T (n.*1426C>T)
c.2196C>T (p.Thr732=)
c.2682C>T (p.Thr894=)
c.2349C>T (p.Thr783=)
c.2430C>T (p.Thr810=)
c.2448C>T (p.Thr816=)
c.1752C>T (p.Thr584=)
c.1392C>T (p.Thr464=)
c.643C>T
n.3480C>T
n.2027C>T
c.2538C>T (p.Thr846=)
n.212-3577C>T
c.2586C>T (p.Thr862=)
c.2646C>T (p.Thr882=)
c.498C>T (p.Thr166=)
c.2268C>T (p.Thr756=)
c.1350C>T (p.Thr450=)
n.2901C>T
 ClinVar gnomAD v4
13g.51950055G>CCA484024383ATP7Bc.*515C>G (n.*515C>G)
c.*1426C>G (n.*1426C>G)
c.2196C>G (p.Thr732=)
c.2682C>G (p.Thr894=)
c.2349C>G (p.Thr783=)
c.2430C>G (p.Thr810=)
c.2448C>G (p.Thr816=)
c.1752C>G (p.Thr584=)
c.1392C>G (p.Thr464=)
c.643C>G
n.3480C>G
n.2027C>G
c.2538C>G (p.Thr846=)
n.212-3577C>G
c.2586C>G (p.Thr862=)
c.2646C>G (p.Thr882=)
c.498C>G (p.Thr166=)
c.2268C>G (p.Thr756=)
c.1350C>G (p.Thr450=)
n.2901C>G
13g.51950055G>TCA484024382ATP7Bc.*515C>A (n.*515C>A)
c.*1426C>A (n.*1426C>A)
c.2196C>A (p.Thr732=)
c.2682C>A (p.Thr894=)
c.2349C>A (p.Thr783=)
c.2430C>A (p.Thr810=)
c.2448C>A (p.Thr816=)
c.1752C>A (p.Thr584=)
c.1392C>A (p.Thr464=)
c.643C>A
n.3480C>A
n.2027C>A
c.2538C>A (p.Thr846=)
n.212-3577C>A
c.2586C>A (p.Thr862=)
c.2646C>A (p.Thr882=)
c.498C>A (p.Thr166=)
c.2268C>A (p.Thr756=)
c.1350C>A (p.Thr450=)
n.2901C>A
 ClinVar dbSNP
13g.51950056G>ACA388034326ATP7Bc.*514C>T (n.*514C>T)
c.*1425C>T (n.*1425C>T)
c.2195C>T (p.Thr732Ile)
c.2681C>T (p.Thr894Ile)
c.2348C>T (p.Thr783Ile)
c.2429C>T (p.Thr810Ile)
c.2447C>T (p.Thr816Ile)
c.1751C>T (p.Thr584Ile)
c.1391C>T (p.Thr464Ile)
c.642C>T
n.3479C>T
n.2026C>T
c.2537C>T (p.Thr846Ile)
n.212-3578C>T
c.2585C>T (p.Thr862Ile)
c.2645C>T (p.Thr882Ile)
c.497C>T (p.Thr166Ile)
c.2267C>T (p.Thr756Ile)
c.1349C>T (p.Thr450Ile)
n.2900C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950056G>CCA388034332ATP7Bc.*514C>G (n.*514C>G)
c.*1425C>G (n.*1425C>G)
c.2195C>G (p.Thr732Ser)
c.2681C>G (p.Thr894Ser)
c.2348C>G (p.Thr783Ser)
c.2429C>G (p.Thr810Ser)
c.2447C>G (p.Thr816Ser)
c.1751C>G (p.Thr584Ser)
c.1391C>G (p.Thr464Ser)
c.642C>G
n.3479C>G
n.2026C>G
c.2537C>G (p.Thr846Ser)
n.212-3578C>G
c.2585C>G (p.Thr862Ser)
c.2645C>G (p.Thr882Ser)
c.497C>G (p.Thr166Ser)
c.2267C>G (p.Thr756Ser)
c.1349C>G (p.Thr450Ser)
n.2900C>G
 ClinVar
13g.51950056G=CA2091541857ATP7Bc.*514C= (n.*514C=)
c.*1425C= (n.*1425C=)
c.2195C= (p.Thr732=)
c.2681C= (p.Thr894=)
c.2348C= (p.Thr783=)
c.2429C= (p.Thr810=)
c.2447C= (p.Thr816=)
c.1751C= (p.Thr584=)
c.1391C= (p.Thr464=)
c.642C=
n.3479C=
n.2026C=
c.2537C= (p.Thr846=)
n.212-3578C=
c.2585C= (p.Thr862=)
c.2645C= (p.Thr882=)
c.497C= (p.Thr166=)
c.2267C= (p.Thr756=)
c.1349C= (p.Thr450=)
n.2900C=
13g.51950056G>TCA388034328ATP7Bc.*514C>A (n.*514C>A)
c.*1425C>A (n.*1425C>A)
c.2195C>A (p.Thr732Asn)
c.2681C>A (p.Thr894Asn)
c.2348C>A (p.Thr783Asn)
c.2429C>A (p.Thr810Asn)
c.2447C>A (p.Thr816Asn)
c.1751C>A (p.Thr584Asn)
c.1391C>A (p.Thr464Asn)
c.642C>A
n.3479C>A
n.2026C>A
c.2537C>A (p.Thr846Asn)
n.212-3578C>A
c.2585C>A (p.Thr862Asn)
c.2645C>A (p.Thr882Asn)
c.497C>A (p.Thr166Asn)
c.2267C>A (p.Thr756Asn)
c.1349C>A (p.Thr450Asn)
n.2900C>A
13g.51950057T>ACA388034335ATP7Bc.*513A>T (n.*513A>T)
c.*1424A>T (n.*1424A>T)
c.2194A>T (p.Thr732Ser)
c.2680A>T (p.Thr894Ser)
c.2347A>T (p.Thr783Ser)
c.2428A>T (p.Thr810Ser)
c.2446A>T (p.Thr816Ser)
c.1750A>T (p.Thr584Ser)
c.1390A>T (p.Thr464Ser)
c.641A>T
n.3478A>T
n.2025A>T
c.2536A>T (p.Thr846Ser)
n.212-3579A>T
c.2584A>T (p.Thr862Ser)
c.2644A>T (p.Thr882Ser)
c.496A>T (p.Thr166Ser)
c.2266A>T (p.Thr756Ser)
c.1348A>T (p.Thr450Ser)
n.2899A>T
13g.51950057T>CCA388034344ATP7Bc.*513A>G (n.*513A>G)
c.*1424A>G (n.*1424A>G)
c.2194A>G (p.Thr732Ala)
c.2680A>G (p.Thr894Ala)
c.2347A>G (p.Thr783Ala)
c.2428A>G (p.Thr810Ala)
c.2446A>G (p.Thr816Ala)
c.1750A>G (p.Thr584Ala)
c.1390A>G (p.Thr464Ala)
c.641A>G
n.3478A>G
n.2025A>G
c.2536A>G (p.Thr846Ala)
n.212-3579A>G
c.2584A>G (p.Thr862Ala)
c.2644A>G (p.Thr882Ala)
c.496A>G (p.Thr166Ala)
c.2266A>G (p.Thr756Ala)
c.1348A>G (p.Thr450Ala)
n.2899A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950057T>GCA388034347ATP7Bc.*513A>C (n.*513A>C)
c.*1424A>C (n.*1424A>C)
c.2194A>C (p.Thr732Pro)
c.2680A>C (p.Thr894Pro)
c.2347A>C (p.Thr783Pro)
c.2428A>C (p.Thr810Pro)
c.2446A>C (p.Thr816Pro)
c.1750A>C (p.Thr584Pro)
c.1390A>C (p.Thr464Pro)
c.641A>C
n.3478A>C
n.2025A>C
c.2536A>C (p.Thr846Pro)
n.212-3579A>C
c.2584A>C (p.Thr862Pro)
c.2644A>C (p.Thr882Pro)
c.496A>C (p.Thr166Pro)
c.2266A>C (p.Thr756Pro)
c.1348A>C (p.Thr450Pro)
n.2899A>C
13g.51950057T=CA2091541861ATP7Bc.*513A= (n.*513A=)
c.*1424A= (n.*1424A=)
c.2194A= (p.Thr732=)
c.2680A= (p.Thr894=)
c.2347A= (p.Thr783=)
c.2428A= (p.Thr810=)
c.2446A= (p.Thr816=)
c.1750A= (p.Thr584=)
c.1390A= (p.Thr464=)
c.641A=
n.3478A=
n.2025A=
c.2536A= (p.Thr846=)
n.212-3579A=
c.2584A= (p.Thr862=)
c.2644A= (p.Thr882=)
c.496A= (p.Thr166=)
c.2266A= (p.Thr756=)
c.1348A= (p.Thr450=)
n.2899A=
13g.51950057_51950058insACA2695218788ATP7Bc.*512_*513insT (n.*512_*513insT)
c.*1423_*1424insT (n.*1423_*1424insT)
c.2193_2194insT (p.Thr732TyrfsTer?)
c.2679_2680insT (p.Thr894TyrfsTer25)
c.2346_2347insT (p.Thr783TyrfsTer25)
c.2427_2428insT (p.Thr810TyrfsTer25)
c.2445_2446insT (p.Thr816TyrfsTer25)
c.1749_1750insT (p.Thr584TyrfsTer?)
c.1389_1390insT (p.Thr464TyrfsTer25)
c.640_641insT
n.3477_3478insT
n.2024_2025insT
c.2535_2536insT (p.Thr846TyrfsTer25)
n.212-3580_212-3579insT
c.2583_2584insT (p.Thr862TyrfsTer25)
c.2643_2644insT (p.Thr882TyrfsTer25)
c.2193_2194insT (p.Thr732TyrfsTer25)
c.495_496insT (p.Thr166TyrfsTer25)
c.2679_2680insT (p.Thr894TyrfsTer?)
c.2265_2266insT (p.Thr756TyrfsTer25)
c.1347_1348insT (p.Thr450TyrfsTer25)
n.2898_2899insT
13g.51950058G>ACA6988938ATP7Bc.*512C>T (n.*512C>T)
c.*1423C>T (n.*1423C>T)
c.2193C>T (p.Asp731=)
c.2679C>T (p.Asp893=)
c.2346C>T (p.Asp782=)
c.2427C>T (p.Asp809=)
c.2445C>T (p.Asp815=)
c.1749C>T (p.Asp583=)
c.1389C>T (p.Asp463=)
c.640C>T
n.3477C>T
n.2024C>T
c.2535C>T (p.Asp845=)
n.212-3580C>T
c.2583C>T (p.Asp861=)
c.2643C>T (p.Asp881=)
c.495C>T (p.Asp165=)
c.2265C>T (p.Asp755=)
c.1347C>T (p.Asp449=)
n.2898C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950058G>CCA388034351ATP7Bc.*512C>G (n.*512C>G)
c.*1423C>G (n.*1423C>G)
c.2193C>G (p.Asp731Glu)
c.2679C>G (p.Asp893Glu)
c.2346C>G (p.Asp782Glu)
c.2427C>G (p.Asp809Glu)
c.2445C>G (p.Asp815Glu)
c.1749C>G (p.Asp583Glu)
c.1389C>G (p.Asp463Glu)
c.640C>G
n.3477C>G
n.2024C>G
c.2535C>G (p.Asp845Glu)
n.212-3580C>G
c.2583C>G (p.Asp861Glu)
c.2643C>G (p.Asp881Glu)
c.495C>G (p.Asp165Glu)
c.2265C>G (p.Asp755Glu)
c.1347C>G (p.Asp449Glu)
n.2898C>G
13g.51950058G=CA2091541869ATP7Bc.*512C= (n.*512C=)
c.*1423C= (n.*1423C=)
c.2193C= (p.Asp731=)
c.2679C= (p.Asp893=)
c.2346C= (p.Asp782=)
c.2427C= (p.Asp809=)
c.2445C= (p.Asp815=)
c.1749C= (p.Asp583=)
c.1389C= (p.Asp463=)
c.640C=
n.3477C=
n.2024C=
c.2535C= (p.Asp845=)
n.212-3580C=
c.2583C= (p.Asp861=)
c.2643C= (p.Asp881=)
c.495C= (p.Asp165=)
c.2265C= (p.Asp755=)
c.1347C= (p.Asp449=)
n.2898C=
13g.51950058G>TCA388034354ATP7Bc.*512C>A (n.*512C>A)
c.*1423C>A (n.*1423C>A)
c.2193C>A (p.Asp731Glu)
c.2679C>A (p.Asp893Glu)
c.2346C>A (p.Asp782Glu)
c.2427C>A (p.Asp809Glu)
c.2445C>A (p.Asp815Glu)
c.1749C>A (p.Asp583Glu)
c.1389C>A (p.Asp463Glu)
c.640C>A
n.3477C>A
n.2024C>A
c.2535C>A (p.Asp845Glu)
n.212-3580C>A
c.2583C>A (p.Asp861Glu)
c.2643C>A (p.Asp881Glu)
c.495C>A (p.Asp165Glu)
c.2265C>A (p.Asp755Glu)
c.1347C>A (p.Asp449Glu)
n.2898C>A
13g.51950059T>ACA388034365ATP7Bc.*511A>T (n.*511A>T)
c.*1422A>T (n.*1422A>T)
c.2192A>T (p.Asp731Val)
c.2678A>T (p.Asp893Val)
c.2345A>T (p.Asp782Val)
c.2426A>T (p.Asp809Val)
c.2444A>T (p.Asp815Val)
c.1748A>T (p.Asp583Val)
c.1388A>T (p.Asp463Val)
c.639A>T
n.3476A>T
n.2023A>T
c.2534A>T (p.Asp845Val)
n.212-3581A>T
c.2582A>T (p.Asp861Val)
c.2642A>T (p.Asp881Val)
c.494A>T (p.Asp165Val)
c.2264A>T (p.Asp755Val)
c.1346A>T (p.Asp449Val)
n.2897A>T
13g.51950059T>CCA388034357ATP7Bc.*511A>G (n.*511A>G)
c.*1422A>G (n.*1422A>G)
c.2192A>G (p.Asp731Gly)
c.2678A>G (p.Asp893Gly)
c.2345A>G (p.Asp782Gly)
c.2426A>G (p.Asp809Gly)
c.2444A>G (p.Asp815Gly)
c.1748A>G (p.Asp583Gly)
c.1388A>G (p.Asp463Gly)
c.639A>G
n.3476A>G
n.2023A>G
c.2534A>G (p.Asp845Gly)
n.212-3581A>G
c.2582A>G (p.Asp861Gly)
c.2642A>G (p.Asp881Gly)
c.494A>G (p.Asp165Gly)
c.2264A>G (p.Asp755Gly)
c.1346A>G (p.Asp449Gly)
n.2897A>G
13g.51950059T>GCA388034362ATP7Bc.*511A>C (n.*511A>C)
c.*1422A>C (n.*1422A>C)
c.2192A>C (p.Asp731Ala)
c.2678A>C (p.Asp893Ala)
c.2345A>C (p.Asp782Ala)
c.2426A>C (p.Asp809Ala)
c.2444A>C (p.Asp815Ala)
c.1748A>C (p.Asp583Ala)
c.1388A>C (p.Asp463Ala)
c.639A>C
n.3476A>C
n.2023A>C
c.2534A>C (p.Asp845Ala)
n.212-3581A>C
c.2582A>C (p.Asp861Ala)
c.2642A>C (p.Asp881Ala)
c.494A>C (p.Asp165Ala)
c.2264A>C (p.Asp755Ala)
c.1346A>C (p.Asp449Ala)
n.2897A>C
13g.51950060C>ACA388034367ATP7Bc.*510G>T (n.*510G>T)
c.*1421G>T (n.*1421G>T)
c.2191G>T (p.Asp731Tyr)
c.2677G>T (p.Asp893Tyr)
c.2344G>T (p.Asp782Tyr)
c.2425G>T (p.Asp809Tyr)
c.2443G>T (p.Asp815Tyr)
c.1747G>T (p.Asp583Tyr)
c.1387G>T (p.Asp463Tyr)
c.638G>T
n.3475G>T
n.2022G>T
c.2533G>T (p.Asp845Tyr)
n.212-3582G>T
c.2581G>T (p.Asp861Tyr)
c.2641G>T (p.Asp881Tyr)
c.493G>T (p.Asp165Tyr)
c.2263G>T (p.Asp755Tyr)
c.1345G>T (p.Asp449Tyr)
n.2896G>T
13g.51950060C>GCA388034373ATP7Bc.*510G>C (n.*510G>C)
c.*1421G>C (n.*1421G>C)
c.2191G>C (p.Asp731His)
c.2677G>C (p.Asp893His)
c.2344G>C (p.Asp782His)
c.2425G>C (p.Asp809His)
c.2443G>C (p.Asp815His)
c.1747G>C (p.Asp583His)
c.1387G>C (p.Asp463His)
c.638G>C
n.3475G>C
n.2022G>C
c.2533G>C (p.Asp845His)
n.212-3582G>C
c.2581G>C (p.Asp861His)
c.2641G>C (p.Asp881His)
c.493G>C (p.Asp165His)
c.2263G>C (p.Asp755His)
c.1345G>C (p.Asp449His)
n.2896G>C
13g.51950060C>TCA388034375ATP7Bc.*510G>A (n.*510G>A)
c.*1421G>A (n.*1421G>A)
c.2191G>A (p.Asp731Asn)
c.2677G>A (p.Asp893Asn)
c.2344G>A (p.Asp782Asn)
c.2425G>A (p.Asp809Asn)
c.2443G>A (p.Asp815Asn)
c.1747G>A (p.Asp583Asn)
c.1387G>A (p.Asp463Asn)
c.638G>A
n.3475G>A
n.2022G>A
c.2533G>A (p.Asp845Asn)
n.212-3582G>A
c.2581G>A (p.Asp861Asn)
c.2641G>A (p.Asp881Asn)
c.493G>A (p.Asp165Asn)
c.2263G>A (p.Asp755Asn)
c.1345G>A (p.Asp449Asn)
n.2896G>A
13g.51950061A>CCA388034385ATP7Bc.*509T>G (n.*509T>G)
c.*1420T>G (n.*1420T>G)
c.2190T>G (p.Asn730Lys)
c.2676T>G (p.Asn892Lys)
c.2343T>G (p.Asn781Lys)
c.2424T>G (p.Asn808Lys)
c.2442T>G (p.Asn814Lys)
c.1746T>G (p.Asn582Lys)
c.1386T>G (p.Asn462Lys)
c.637T>G
n.3474T>G
n.2021T>G
c.2532T>G (p.Asn844Lys)
n.212-3583T>G
c.2580T>G (p.Asn860Lys)
c.2640T>G (p.Asn880Lys)
c.492T>G (p.Asn164Lys)
c.2262T>G (p.Asn754Lys)
c.1344T>G (p.Asn448Lys)
n.2895T>G
13g.51950061A>GCA484024385ATP7Bc.*509T>C (n.*509T>C)
c.*1420T>C (n.*1420T>C)
c.2190T>C (p.Asn730=)
c.2676T>C (p.Asn892=)
c.2343T>C (p.Asn781=)
c.2424T>C (p.Asn808=)
c.2442T>C (p.Asn814=)
c.1746T>C (p.Asn582=)
c.1386T>C (p.Asn462=)
c.637T>C
n.3474T>C
n.2021T>C
c.2532T>C (p.Asn844=)
n.212-3583T>C
c.2580T>C (p.Asn860=)
c.2640T>C (p.Asn880=)
c.492T>C (p.Asn164=)
c.2262T>C (p.Asn754=)
c.1344T>C (p.Asn448=)
n.2895T>C
13g.51950061A>TCA388034389ATP7Bc.*509T>A (n.*509T>A)
c.*1420T>A (n.*1420T>A)
c.2190T>A (p.Asn730Lys)
c.2676T>A (p.Asn892Lys)
c.2343T>A (p.Asn781Lys)
c.2424T>A (p.Asn808Lys)
c.2442T>A (p.Asn814Lys)
c.1746T>A (p.Asn582Lys)
c.1386T>A (p.Asn462Lys)
c.637T>A
n.3474T>A
n.2021T>A
c.2532T>A (p.Asn844Lys)
n.212-3583T>A
c.2580T>A (p.Asn860Lys)
c.2640T>A (p.Asn880Lys)
c.492T>A (p.Asn164Lys)
c.2262T>A (p.Asn754Lys)
c.1344T>A (p.Asn448Lys)
n.2895T>A
13g.51950062T>ACA388034390ATP7Bc.*508A>T (n.*508A>T)
c.*1419A>T (n.*1419A>T)
c.2189A>T (p.Asn730Ile)
c.2675A>T (p.Asn892Ile)
c.2342A>T (p.Asn781Ile)
c.2423A>T (p.Asn808Ile)
c.2441A>T (p.Asn814Ile)
c.1745A>T (p.Asn582Ile)
c.1385A>T (p.Asn462Ile)
c.636A>T
n.3473A>T
n.2020A>T
c.2531A>T (p.Asn844Ile)
n.212-3584A>T
c.2579A>T (p.Asn860Ile)
c.2639A>T (p.Asn880Ile)
c.491A>T (p.Asn164Ile)
c.2261A>T (p.Asn754Ile)
c.1343A>T (p.Asn448Ile)
n.2894A>T
13g.51950062T>CCA6988939ATP7Bc.*508A>G (n.*508A>G)
c.*1419A>G (n.*1419A>G)
c.2189A>G (p.Asn730Ser)
c.2675A>G (p.Asn892Ser)
c.2342A>G (p.Asn781Ser)
c.2423A>G (p.Asn808Ser)
c.2441A>G (p.Asn814Ser)
c.1745A>G (p.Asn582Ser)
c.1385A>G (p.Asn462Ser)
c.636A>G
n.3473A>G
n.2020A>G
c.2531A>G (p.Asn844Ser)
n.212-3584A>G
c.2579A>G (p.Asn860Ser)
c.2639A>G (p.Asn880Ser)
c.491A>G (p.Asn164Ser)
c.2261A>G (p.Asn754Ser)
c.1343A>G (p.Asn448Ser)
n.2894A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950062T>GCA388034392ATP7Bc.*508A>C (n.*508A>C)
c.*1419A>C (n.*1419A>C)
c.2189A>C (p.Asn730Thr)
c.2675A>C (p.Asn892Thr)
c.2342A>C (p.Asn781Thr)
c.2423A>C (p.Asn808Thr)
c.2441A>C (p.Asn814Thr)
c.1745A>C (p.Asn582Thr)
c.1385A>C (p.Asn462Thr)
c.636A>C
n.3473A>C
n.2020A>C
c.2531A>C (p.Asn844Thr)
n.212-3584A>C
c.2579A>C (p.Asn860Thr)
c.2639A>C (p.Asn880Thr)
c.491A>C (p.Asn164Thr)
c.2261A>C (p.Asn754Thr)
c.1343A>C (p.Asn448Thr)
n.2894A>C
13g.51950062T=CA2091541874ATP7Bc.*508A= (n.*508A=)
c.*1419A= (n.*1419A=)
c.2189A= (p.Asn730=)
c.2675A= (p.Asn892=)
c.2342A= (p.Asn781=)
c.2423A= (p.Asn808=)
c.2441A= (p.Asn814=)
c.1745A= (p.Asn582=)
c.1385A= (p.Asn462=)
c.636A=
n.3473A=
n.2020A=
c.2531A= (p.Asn844=)
n.212-3584A=
c.2579A= (p.Asn860=)
c.2639A= (p.Asn880=)
c.491A= (p.Asn164=)
c.2261A= (p.Asn754=)
c.1343A= (p.Asn448=)
n.2894A=
13g.51950063T>ACA388034395ATP7Bc.*507A>T (n.*507A>T)
c.*1418A>T (n.*1418A>T)
c.2188A>T (p.Asn730Tyr)
c.2674A>T (p.Asn892Tyr)
c.2341A>T (p.Asn781Tyr)
c.2422A>T (p.Asn808Tyr)
c.2440A>T (p.Asn814Tyr)
c.1744A>T (p.Asn582Tyr)
c.1384A>T (p.Asn462Tyr)
c.635A>T
n.3472A>T
n.2019A>T
c.2530A>T (p.Asn844Tyr)
n.212-3585A>T
c.2578A>T (p.Asn860Tyr)
c.2638A>T (p.Asn880Tyr)
c.490A>T (p.Asn164Tyr)
c.2260A>T (p.Asn754Tyr)
c.1342A>T (p.Asn448Tyr)
n.2893A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950063T>CCA388034397ATP7Bc.*507A>G (n.*507A>G)
c.*1418A>G (n.*1418A>G)
c.2188A>G (p.Asn730Asp)
c.2674A>G (p.Asn892Asp)
c.2341A>G (p.Asn781Asp)
c.2422A>G (p.Asn808Asp)
c.2440A>G (p.Asn814Asp)
c.1744A>G (p.Asn582Asp)
c.1384A>G (p.Asn462Asp)
c.635A>G
n.3472A>G
n.2019A>G
c.2530A>G (p.Asn844Asp)
n.212-3585A>G
c.2578A>G (p.Asn860Asp)
c.2638A>G (p.Asn880Asp)
c.490A>G (p.Asn164Asp)
c.2260A>G (p.Asn754Asp)
c.1342A>G (p.Asn448Asp)
n.2893A>G
13g.51950063T>GCA388034398ATP7Bc.*507A>C (n.*507A>C)
c.*1418A>C (n.*1418A>C)
c.2188A>C (p.Asn730His)
c.2674A>C (p.Asn892His)
c.2341A>C (p.Asn781His)
c.2422A>C (p.Asn808His)
c.2440A>C (p.Asn814His)
c.1744A>C (p.Asn582His)
c.1384A>C (p.Asn462His)
c.635A>C
n.3472A>C
n.2019A>C
c.2530A>C (p.Asn844His)
n.212-3585A>C
c.2578A>C (p.Asn860His)
c.2638A>C (p.Asn880His)
c.490A>C (p.Asn164His)
c.2260A>C (p.Asn754His)
c.1342A>C (p.Asn448His)
n.2893A>C
13g.51950063T=CA2091541878ATP7Bc.*507A= (n.*507A=)
c.*1418A= (n.*1418A=)
c.2188A= (p.Asn730=)
c.2674A= (p.Asn892=)
c.2341A= (p.Asn781=)
c.2422A= (p.Asn808=)
c.2440A= (p.Asn814=)
c.1744A= (p.Asn582=)
c.1384A= (p.Asn462=)
c.635A=
n.3472A=
n.2019A=
c.2530A= (p.Asn844=)
n.212-3585A=
c.2578A= (p.Asn860=)
c.2638A= (p.Asn880=)
c.490A= (p.Asn164=)
c.2260A= (p.Asn754=)
c.1342A= (p.Asn448=)
n.2893A=
13g.51950064delCA2580087692ATP7Bc.*506del (n.*506del)
c.*1417del (n.*1417del)
c.2187del (p.Asn730MetfsTer9)
c.2673del (p.Asn892MetfsTer9)
c.2340del (p.Asn781MetfsTer9)
c.2421del (p.Asn808MetfsTer9)
c.2439del (p.Asn814MetfsTer9)
c.1743del (p.Asn582MetfsTer9)
c.1383del (p.Asn462MetfsTer9)
c.634del
n.3471del
n.2018del
c.2529del (p.Asn844MetfsTer9)
n.212-3586del
c.2577del (p.Asn860MetfsTer9)
c.2637del (p.Asn880MetfsTer9)
c.489del (p.Asn164MetfsTer9)
c.2259del (p.Asn754MetfsTer9)
c.1341del (p.Asn448MetfsTer9)
n.2892del
 ClinVar
13g.51950064G>ACA484024386ATP7Bc.*506C>T (n.*506C>T)
c.*1417C>T (n.*1417C>T)
c.2187C>T (p.Gly729=)
c.2673C>T (p.Gly891=)
c.2340C>T (p.Gly780=)
c.2421C>T (p.Gly807=)
c.2439C>T (p.Gly813=)
c.1743C>T (p.Gly581=)
c.1383C>T (p.Gly461=)
c.634C>T
n.3471C>T
n.2018C>T
c.2529C>T (p.Gly843=)
n.212-3586C>T
c.2577C>T (p.Gly859=)
c.2637C>T (p.Gly879=)
c.489C>T (p.Gly163=)
c.2259C>T (p.Gly753=)
c.1341C>T (p.Gly447=)
n.2892C>T
13g.51950064G>CCA171304ATP7Bc.*506C>G (n.*506C>G)
c.*1417C>G (n.*1417C>G)
c.2187C>G (p.Gly729=)
c.2673C>G (p.Gly891=)
c.2340C>G (p.Gly780=)
c.2421C>G (p.Gly807=)
c.2439C>G (p.Gly813=)
c.1743C>G (p.Gly581=)
c.1383C>G (p.Gly461=)
c.634C>G
n.3471C>G
n.2018C>G
c.2529C>G (p.Gly843=)
n.212-3586C>G
c.2577C>G (p.Gly859=)
c.2637C>G (p.Gly879=)
c.489C>G (p.Gly163=)
c.2259C>G (p.Gly753=)
c.1341C>G (p.Gly447=)
n.2892C>G
 ClinVar dbSNP
13g.51950064G=CA2091541884ATP7Bc.*506C= (n.*506C=)
c.*1417C= (n.*1417C=)
c.2187C= (p.Gly729=)
c.2673C= (p.Gly891=)
c.2340C= (p.Gly780=)
c.2421C= (p.Gly807=)
c.2439C= (p.Gly813=)
c.1743C= (p.Gly581=)
c.1383C= (p.Gly461=)
c.634C=
n.3471C=
n.2018C=
c.2529C= (p.Gly843=)
n.212-3586C=
c.2577C= (p.Gly859=)
c.2637C= (p.Gly879=)
c.489C= (p.Gly163=)
c.2259C= (p.Gly753=)
c.1341C= (p.Gly447=)
n.2892C=
13g.51950064G>TCA484024387ATP7Bc.*506C>A (n.*506C>A)
c.*1417C>A (n.*1417C>A)
c.2187C>A (p.Gly729=)
c.2673C>A (p.Gly891=)
c.2340C>A (p.Gly780=)
c.2421C>A (p.Gly807=)
c.2439C>A (p.Gly813=)
c.1743C>A (p.Gly581=)
c.1383C>A (p.Gly461=)
c.634C>A
n.3471C>A
n.2018C>A
c.2529C>A (p.Gly843=)
n.212-3586C>A
c.2577C>A (p.Gly859=)
c.2637C>A (p.Gly879=)
c.489C>A (p.Gly163=)
c.2259C>A (p.Gly753=)
c.1341C>A (p.Gly447=)
n.2892C>A
13g.51950065C>ACA388034402ATP7Bc.*505G>T (n.*505G>T)
c.*1416G>T (n.*1416G>T)
c.2186G>T (p.Gly729Val)
c.2672G>T (p.Gly891Val)
c.2339G>T (p.Gly780Val)
c.2420G>T (p.Gly807Val)
c.2438G>T (p.Gly813Val)
c.1742G>T (p.Gly581Val)
c.1382G>T (p.Gly461Val)
c.633G>T
n.3470G>T
n.2017G>T
c.2528G>T (p.Gly843Val)
n.212-3587G>T
c.2576G>T (p.Gly859Val)
c.2636G>T (p.Gly879Val)
c.488G>T (p.Gly163Val)
c.2258G>T (p.Gly753Val)
c.1340G>T (p.Gly447Val)
n.2891G>T
13g.51950065C=CA2091541890ATP7Bc.*505G= (n.*505G=)
c.*1416G= (n.*1416G=)
c.2186G= (p.Gly729=)
c.2672G= (p.Gly891=)
c.2339G= (p.Gly780=)
c.2420G= (p.Gly807=)
c.2438G= (p.Gly813=)
c.1742G= (p.Gly581=)
c.1382G= (p.Gly461=)
c.633G=
n.3470G=
n.2017G=
c.2528G= (p.Gly843=)
n.212-3587G=
c.2576G= (p.Gly859=)
c.2636G= (p.Gly879=)
c.488G= (p.Gly163=)
c.2258G= (p.Gly753=)
c.1340G= (p.Gly447=)
n.2891G=
13g.51950065C>GCA228984ATP7Bc.*505G>C (n.*505G>C)
c.*1416G>C (n.*1416G>C)
c.2186G>C (p.Gly729Ala)
c.2672G>C (p.Gly891Ala)
c.2339G>C (p.Gly780Ala)
c.2420G>C (p.Gly807Ala)
c.2438G>C (p.Gly813Ala)
c.1742G>C (p.Gly581Ala)
c.1382G>C (p.Gly461Ala)
c.633G>C
n.3470G>C
n.2017G>C
c.2528G>C (p.Gly843Ala)
n.212-3587G>C
c.2576G>C (p.Gly859Ala)
c.2636G>C (p.Gly879Ala)
c.488G>C (p.Gly163Ala)
c.2258G>C (p.Gly753Ala)
c.1340G>C (p.Gly447Ala)
n.2891G>C
 ClinVar dbSNP COSMIC
13g.51950065C>TCA388034407ATP7Bc.*505G>A (n.*505G>A)
c.*1416G>A (n.*1416G>A)
c.2186G>A (p.Gly729Asp)
c.2672G>A (p.Gly891Asp)
c.2339G>A (p.Gly780Asp)
c.2420G>A (p.Gly807Asp)
c.2438G>A (p.Gly813Asp)
c.1742G>A (p.Gly581Asp)
c.1382G>A (p.Gly461Asp)
c.633G>A
n.3470G>A
n.2017G>A
c.2528G>A (p.Gly843Asp)
n.212-3587G>A
c.2576G>A (p.Gly859Asp)
c.2636G>A (p.Gly879Asp)
c.488G>A (p.Gly163Asp)
c.2258G>A (p.Gly753Asp)
c.1340G>A (p.Gly447Asp)
n.2891G>A
 ClinVar dbSNP gnomAD v4
13g.51950066C>ACA388034409ATP7Bc.*504G>T (n.*504G>T)
c.*1415G>T (n.*1415G>T)
c.2185G>T (p.Gly729Cys)
c.2671G>T (p.Gly891Cys)
c.2338G>T (p.Gly780Cys)
c.2419G>T (p.Gly807Cys)
c.2437G>T (p.Gly813Cys)
c.1741G>T (p.Gly581Cys)
c.1381G>T (p.Gly461Cys)
c.632G>T
n.3469G>T
n.2016G>T
c.2527G>T (p.Gly843Cys)
n.212-3588G>T
c.2575G>T (p.Gly859Cys)
c.2635G>T (p.Gly879Cys)
c.487G>T (p.Gly163Cys)
c.2257G>T (p.Gly753Cys)
c.1339G>T (p.Gly447Cys)
n.2890G>T
13g.51950066C>GCA388034411ATP7Bc.*504G>C (n.*504G>C)
c.*1415G>C (n.*1415G>C)
c.2185G>C (p.Gly729Arg)
c.2671G>C (p.Gly891Arg)
c.2338G>C (p.Gly780Arg)
c.2419G>C (p.Gly807Arg)
c.2437G>C (p.Gly813Arg)
c.1741G>C (p.Gly581Arg)
c.1381G>C (p.Gly461Arg)
c.632G>C
n.3469G>C
n.2016G>C
c.2527G>C (p.Gly843Arg)
n.212-3588G>C
c.2575G>C (p.Gly859Arg)
c.2635G>C (p.Gly879Arg)
c.487G>C (p.Gly163Arg)
c.2257G>C (p.Gly753Arg)
c.1339G>C (p.Gly447Arg)
n.2890G>C
13g.51950066C>TCA388034413ATP7Bc.*504G>A (n.*504G>A)
c.*1415G>A (n.*1415G>A)
c.2185G>A (p.Gly729Ser)
c.2671G>A (p.Gly891Ser)
c.2338G>A (p.Gly780Ser)
c.2419G>A (p.Gly807Ser)
c.2437G>A (p.Gly813Ser)
c.1741G>A (p.Gly581Ser)
c.1381G>A (p.Gly461Ser)
c.632G>A
n.3469G>A
n.2016G>A
c.2527G>A (p.Gly843Ser)
n.212-3588G>A
c.2575G>A (p.Gly859Ser)
c.2635G>A (p.Gly879Ser)
c.487G>A (p.Gly163Ser)
c.2257G>A (p.Gly753Ser)
c.1339G>A (p.Gly447Ser)
n.2890G>A
13g.51950067C>ACA484024388ATP7Bc.*503G>T (n.*503G>T)
c.*1414G>T (n.*1414G>T)
c.2184G>T (p.Val728=)
c.2670G>T (p.Val890=)
c.2337G>T (p.Val779=)
c.2418G>T (p.Val806=)
c.2436G>T (p.Val812=)
c.1740G>T (p.Val580=)
c.1380G>T (p.Val460=)
c.631G>T
n.3468G>T
n.2015G>T
c.2526G>T (p.Val842=)
n.212-3589G>T
c.2574G>T (p.Val858=)
c.2634G>T (p.Val878=)
c.486G>T (p.Val162=)
c.2256G>T (p.Val752=)
c.1338G>T (p.Val446=)
n.2889G>T
13g.51950067C=CA2091541899ATP7Bc.*503G= (n.*503G=)
c.*1414G= (n.*1414G=)
c.2184G= (p.Val728=)
c.2670G= (p.Val890=)
c.2337G= (p.Val779=)
c.2418G= (p.Val806=)
c.2436G= (p.Val812=)
c.1740G= (p.Val580=)
c.1380G= (p.Val460=)
c.631G=
n.3468G=
n.2015G=
c.2526G= (p.Val842=)
n.212-3589G=
c.2574G= (p.Val858=)
c.2634G= (p.Val878=)
c.486G= (p.Val162=)
c.2256G= (p.Val752=)
c.1338G= (p.Val446=)
n.2889G=
13g.51950067C>GCA484024390ATP7Bc.*503G>C (n.*503G>C)
c.*1414G>C (n.*1414G>C)
c.2184G>C (p.Val728=)
c.2670G>C (p.Val890=)
c.2337G>C (p.Val779=)
c.2418G>C (p.Val806=)
c.2436G>C (p.Val812=)
c.1740G>C (p.Val580=)
c.1380G>C (p.Val460=)
c.631G>C
n.3468G>C
n.2015G>C
c.2526G>C (p.Val842=)
n.212-3589G>C
c.2574G>C (p.Val858=)
c.2634G>C (p.Val878=)
c.486G>C (p.Val162=)
c.2256G>C (p.Val752=)
c.1338G>C (p.Val446=)
n.2889G>C
13g.51950067C>TCA484024389ATP7Bc.*503G>A (n.*503G>A)
c.*1414G>A (n.*1414G>A)
c.2184G>A (p.Val728=)
c.2670G>A (p.Val890=)
c.2337G>A (p.Val779=)
c.2418G>A (p.Val806=)
c.2436G>A (p.Val812=)
c.1740G>A (p.Val580=)
c.1380G>A (p.Val460=)
c.631G>A
n.3468G>A
n.2015G>A
c.2526G>A (p.Val842=)
n.212-3589G>A
c.2574G>A (p.Val858=)
c.2634G>A (p.Val878=)
c.486G>A (p.Val162=)
c.2256G>A (p.Val752=)
c.1338G>A (p.Val446=)
n.2889G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51950068A>CCA388034416ATP7Bc.*502T>G (n.*502T>G)
c.*1413T>G (n.*1413T>G)
c.2183T>G (p.Val728Gly)
c.2669T>G (p.Val890Gly)
c.2336T>G (p.Val779Gly)
c.2417T>G (p.Val806Gly)
c.2435T>G (p.Val812Gly)
c.1739T>G (p.Val580Gly)
c.1379T>G (p.Val460Gly)
c.630T>G
n.3467T>G
n.2014T>G
c.2525T>G (p.Val842Gly)
n.212-3590T>G
c.2573T>G (p.Val858Gly)
c.2633T>G (p.Val878Gly)
c.485T>G (p.Val162Gly)
c.2255T>G (p.Val752Gly)
c.1337T>G (p.Val446Gly)
n.2888T>G
13g.51950068A>GCA388034431ATP7Bc.*502T>C (n.*502T>C)
c.*1413T>C (n.*1413T>C)
c.2183T>C (p.Val728Ala)
c.2669T>C (p.Val890Ala)
c.2336T>C (p.Val779Ala)
c.2417T>C (p.Val806Ala)
c.2435T>C (p.Val812Ala)
c.1739T>C (p.Val580Ala)
c.1379T>C (p.Val460Ala)
c.630T>C
n.3467T>C
n.2014T>C
c.2525T>C (p.Val842Ala)
n.212-3590T>C
c.2573T>C (p.Val858Ala)
c.2633T>C (p.Val878Ala)
c.485T>C (p.Val162Ala)
c.2255T>C (p.Val752Ala)
c.1337T>C (p.Val446Ala)
n.2888T>C
13g.51950068A>TCA388034419ATP7Bc.*502T>A (n.*502T>A)
c.*1413T>A (n.*1413T>A)
c.2183T>A (p.Val728Glu)
c.2669T>A (p.Val890Glu)
c.2336T>A (p.Val779Glu)
c.2417T>A (p.Val806Glu)
c.2435T>A (p.Val812Glu)
c.1739T>A (p.Val580Glu)
c.1379T>A (p.Val460Glu)
c.630T>A
n.3467T>A
n.2014T>A
c.2525T>A (p.Val842Glu)
n.212-3590T>A
c.2573T>A (p.Val858Glu)
c.2633T>A (p.Val878Glu)
c.485T>A (p.Val162Glu)
c.2255T>A (p.Val752Glu)
c.1337T>A (p.Val446Glu)
n.2888T>A
13g.51950069C>ACA388034432ATP7Bc.*501G>T (n.*501G>T)
c.*1412G>T (n.*1412G>T)
c.2182G>T (p.Val728Leu)
c.2668G>T (p.Val890Leu)
c.2335G>T (p.Val779Leu)
c.2416G>T (p.Val806Leu)
c.2434G>T (p.Val812Leu)
c.1738G>T (p.Val580Leu)
c.1378G>T (p.Val460Leu)
c.629G>T
n.3466G>T
n.2013G>T
c.2524G>T (p.Val842Leu)
n.212-3591G>T
c.2572G>T (p.Val858Leu)
c.2632G>T (p.Val878Leu)
c.484G>T (p.Val162Leu)
c.2254G>T (p.Val752Leu)
c.1336G>T (p.Val446Leu)
n.2887G>T
 ClinVar
13g.51950069C=CA2091541904ATP7Bc.*501G= (n.*501G=)
c.*1412G= (n.*1412G=)
c.2182G= (p.Val728=)
c.2668G= (p.Val890=)
c.2335G= (p.Val779=)
c.2416G= (p.Val806=)
c.2434G= (p.Val812=)
c.1738G= (p.Val580=)
c.1378G= (p.Val460=)
c.629G=
n.3466G=
n.2013G=
c.2524G= (p.Val842=)
n.212-3591G=
c.2572G= (p.Val858=)
c.2632G= (p.Val878=)
c.484G= (p.Val162=)
c.2254G= (p.Val752=)
c.1336G= (p.Val446=)
n.2887G=
13g.51950069C>GCA388034434ATP7Bc.*501G>C (n.*501G>C)
c.*1412G>C (n.*1412G>C)
c.2182G>C (p.Val728Leu)
c.2668G>C (p.Val890Leu)
c.2335G>C (p.Val779Leu)
c.2416G>C (p.Val806Leu)
c.2434G>C (p.Val812Leu)
c.1738G>C (p.Val580Leu)
c.1378G>C (p.Val460Leu)
c.629G>C
n.3466G>C
n.2013G>C
c.2524G>C (p.Val842Leu)
n.212-3591G>C
c.2572G>C (p.Val858Leu)
c.2632G>C (p.Val878Leu)
c.484G>C (p.Val162Leu)
c.2254G>C (p.Val752Leu)
c.1336G>C (p.Val446Leu)
n.2887G>C
13g.51950069C>TCA274401ATP7Bc.*501G>A (n.*501G>A)
c.*1412G>A (n.*1412G>A)
c.2182G>A (p.Val728Met)
c.2668G>A (p.Val890Met)
c.2335G>A (p.Val779Met)
c.2416G>A (p.Val806Met)
c.2434G>A (p.Val812Met)
c.1738G>A (p.Val580Met)
c.1378G>A (p.Val460Met)
c.629G>A
n.3466G>A
n.2013G>A
c.2524G>A (p.Val842Met)
n.212-3591G>A
c.2572G>A (p.Val858Met)
c.2632G>A (p.Val878Met)
c.484G>A (p.Val162Met)
c.2254G>A (p.Val752Met)
c.1336G>A (p.Val446Met)
n.2887G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51950070G>ACA6988940ATP7Bc.*500C>T (n.*500C>T)
c.*1411C>T (n.*1411C>T)
c.2181C>T (p.His727=)
c.2667C>T (p.His889=)
c.2334C>T (p.His778=)
c.2415C>T (p.His805=)
c.2433C>T (p.His811=)
c.1737C>T (p.His579=)
c.1377C>T (p.His459=)
c.628C>T
n.3465C>T
n.2012C>T
c.2523C>T (p.His841=)
n.212-3592C>T
c.2571C>T (p.His857=)
c.2631C>T (p.His877=)
c.483C>T (p.His161=)
c.2253C>T (p.His751=)
c.1335C>T (p.His445=)
n.2886C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950070G>CCA388034437ATP7Bc.*500C>G (n.*500C>G)
c.*1411C>G (n.*1411C>G)
c.2181C>G (p.His727Gln)
c.2667C>G (p.His889Gln)
c.2334C>G (p.His778Gln)
c.2415C>G (p.His805Gln)
c.2433C>G (p.His811Gln)
c.1737C>G (p.His579Gln)
c.1377C>G (p.His459Gln)
c.628C>G
n.3465C>G
n.2012C>G
c.2523C>G (p.His841Gln)
n.212-3592C>G
c.2571C>G (p.His857Gln)
c.2631C>G (p.His877Gln)
c.483C>G (p.His161Gln)
c.2253C>G (p.His751Gln)
c.1335C>G (p.His445Gln)
n.2886C>G
13g.51950070G=CA2091541914ATP7Bc.*500C= (n.*500C=)
c.*1411C= (n.*1411C=)
c.2181C= (p.His727=)
c.2667C= (p.His889=)
c.2334C= (p.His778=)
c.2415C= (p.His805=)
c.2433C= (p.His811=)
c.1737C= (p.His579=)
c.1377C= (p.His459=)
c.628C=
n.3465C=
n.2012C=
c.2523C= (p.His841=)
n.212-3592C=
c.2571C= (p.His857=)
c.2631C= (p.His877=)
c.483C= (p.His161=)
c.2253C= (p.His751=)
c.1335C= (p.His445=)
n.2886C=
13g.51950070G>TCA388034435ATP7Bc.*500C>A (n.*500C>A)
c.*1411C>A (n.*1411C>A)
c.2181C>A (p.His727Gln)
c.2667C>A (p.His889Gln)
c.2334C>A (p.His778Gln)
c.2415C>A (p.His805Gln)
c.2433C>A (p.His811Gln)
c.1737C>A (p.His579Gln)
c.1377C>A (p.His459Gln)
c.628C>A
n.3465C>A
n.2012C>A
c.2523C>A (p.His841Gln)
n.212-3592C>A
c.2571C>A (p.His857Gln)
c.2631C>A (p.His877Gln)
c.483C>A (p.His161Gln)
c.2253C>A (p.His751Gln)
c.1335C>A (p.His445Gln)
n.2886C>A
13g.51950071T>ACA388034438ATP7Bc.*499A>T (n.*499A>T)
c.*1410A>T (n.*1410A>T)
c.2180A>T (p.His727Leu)
c.2666A>T (p.His889Leu)
c.2333A>T (p.His778Leu)
c.2414A>T (p.His805Leu)
c.2432A>T (p.His811Leu)
c.1736A>T (p.His579Leu)
c.1376A>T (p.His459Leu)
c.627A>T
n.3464A>T
n.2011A>T
c.2522A>T (p.His841Leu)
n.212-3593A>T
c.2570A>T (p.His857Leu)
c.2630A>T (p.His877Leu)
c.482A>T (p.His161Leu)
c.2252A>T (p.His751Leu)
c.1334A>T (p.His445Leu)
n.2885A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950071T>CCA388034442ATP7Bc.*499A>G (n.*499A>G)
c.*1410A>G (n.*1410A>G)
c.2180A>G (p.His727Arg)
c.2666A>G (p.His889Arg)
c.2333A>G (p.His778Arg)
c.2414A>G (p.His805Arg)
c.2432A>G (p.His811Arg)
c.1736A>G (p.His579Arg)
c.1376A>G (p.His459Arg)
c.627A>G
n.3464A>G
n.2011A>G
c.2522A>G (p.His841Arg)
n.212-3593A>G
c.2570A>G (p.His857Arg)
c.2630A>G (p.His877Arg)
c.482A>G (p.His161Arg)
c.2252A>G (p.His751Arg)
c.1334A>G (p.His445Arg)
n.2885A>G
 ClinVar dbSNP
13g.51950071T>GCA388034443ATP7Bc.*499A>C (n.*499A>C)
c.*1410A>C (n.*1410A>C)
c.2180A>C (p.His727Pro)
c.2666A>C (p.His889Pro)
c.2333A>C (p.His778Pro)
c.2414A>C (p.His805Pro)
c.2432A>C (p.His811Pro)
c.1736A>C (p.His579Pro)
c.1376A>C (p.His459Pro)
c.627A>C
n.3464A>C
n.2011A>C
c.2522A>C (p.His841Pro)
n.212-3593A>C
c.2570A>C (p.His857Pro)
c.2630A>C (p.His877Pro)
c.482A>C (p.His161Pro)
c.2252A>C (p.His751Pro)
c.1334A>C (p.His445Pro)
n.2885A>C
13g.51950071T=CA2091541925ATP7Bc.*499A= (n.*499A=)
c.*1410A= (n.*1410A=)
c.2180A= (p.His727=)
c.2666A= (p.His889=)
c.2333A= (p.His778=)
c.2414A= (p.His805=)
c.2432A= (p.His811=)
c.1736A= (p.His579=)
c.1376A= (p.His459=)
c.627A=
n.3464A=
n.2011A=
c.2522A= (p.His841=)
n.212-3593A=
c.2570A= (p.His857=)
c.2630A= (p.His877=)
c.482A= (p.His161=)
c.2252A= (p.His751=)
c.1334A= (p.His445=)
n.2885A=
13g.51950072G>ACA388034446ATP7Bc.*498C>T (n.*498C>T)
c.*1409C>T (n.*1409C>T)
c.2179C>T (p.His727Tyr)
c.2665C>T (p.His889Tyr)
c.2332C>T (p.His778Tyr)
c.2413C>T (p.His805Tyr)
c.2431C>T (p.His811Tyr)
c.1735C>T (p.His579Tyr)
c.1375C>T (p.His459Tyr)
c.626C>T
n.3463C>T
n.2010C>T
c.2521C>T (p.His841Tyr)
n.212-3594C>T
c.2569C>T (p.His857Tyr)
c.2629C>T (p.His877Tyr)
c.481C>T (p.His161Tyr)
c.2251C>T (p.His751Tyr)
c.1333C>T (p.His445Tyr)
n.2884C>T
13g.51950072G>CCA388034448ATP7Bc.*498C>G (n.*498C>G)
c.*1409C>G (n.*1409C>G)
c.2179C>G (p.His727Asp)
c.2665C>G (p.His889Asp)
c.2332C>G (p.His778Asp)
c.2413C>G (p.His805Asp)
c.2431C>G (p.His811Asp)
c.1735C>G (p.His579Asp)
c.1375C>G (p.His459Asp)
c.626C>G
n.3463C>G
n.2010C>G
c.2521C>G (p.His841Asp)
n.212-3594C>G
c.2569C>G (p.His857Asp)
c.2629C>G (p.His877Asp)
c.481C>G (p.His161Asp)
c.2251C>G (p.His751Asp)
c.1333C>G (p.His445Asp)
n.2884C>G
13g.51950072G>TCA388034451ATP7Bc.*498C>A (n.*498C>A)
c.*1409C>A (n.*1409C>A)
c.2179C>A (p.His727Asn)
c.2665C>A (p.His889Asn)
c.2332C>A (p.His778Asn)
c.2413C>A (p.His805Asn)
c.2431C>A (p.His811Asn)
c.1735C>A (p.His579Asn)
c.1375C>A (p.His459Asn)
c.626C>A
n.3463C>A
n.2010C>A
c.2521C>A (p.His841Asn)
n.212-3594C>A
c.2569C>A (p.His857Asn)
c.2629C>A (p.His877Asn)
c.481C>A (p.His161Asn)
c.2251C>A (p.His751Asn)
c.1333C>A (p.His445Asn)
n.2884C>A
13g.51950072_51950073delinsAACA645580502ATP7Bc.*497_*498delinsTT (n.*497_*498delinsTT)
c.*1408_*1409delinsTT (n.*1408_*1409delinsTT)
c.2178_2179delinsTT (p.His727Tyr)
c.2664_2665delinsTT (p.His889Tyr)
c.2331_2332delinsTT (p.His778Tyr)
c.2412_2413delinsTT (p.His805Tyr)
c.2430_2431delinsTT (p.His811Tyr)
c.1734_1735delinsTT (p.His579Tyr)
c.1374_1375delinsTT (p.His459Tyr)
c.625_626delinsTT
n.3462_3463delinsTT
n.2009_2010delinsTT
c.2520_2521delinsTT (p.His841Tyr)
n.212-3595_212-3594delinsTT
c.2568_2569delinsTT (p.His857Tyr)
c.2628_2629delinsTT (p.His877Tyr)
c.480_481delinsTT (p.His161Tyr)
c.2250_2251delinsTT (p.His751Tyr)
c.1332_1333delinsTT (p.His445Tyr)
n.2883_2884delinsTT
 COSMIC
13g.51950073G>ACA484024391ATP7Bc.*497C>T (n.*497C>T)
c.*1408C>T (n.*1408C>T)
c.2178C>T (p.Thr726=)
c.2664C>T (p.Thr888=)
c.2331C>T (p.Thr777=)
c.2412C>T (p.Thr804=)
c.2430C>T (p.Thr810=)
c.1734C>T (p.Thr578=)
c.1374C>T (p.Thr458=)
c.625C>T
n.3462C>T
n.2009C>T
c.2520C>T (p.Thr840=)
n.212-3595C>T
c.2568C>T (p.Thr856=)
c.2628C>T (p.Thr876=)
c.480C>T (p.Thr160=)
c.2250C>T (p.Thr750=)
c.1332C>T (p.Thr444=)
n.2883C>T
13g.51950073G>CCA484024392ATP7Bc.*497C>G (n.*497C>G)
c.*1408C>G (n.*1408C>G)
c.2178C>G (p.Thr726=)
c.2664C>G (p.Thr888=)
c.2331C>G (p.Thr777=)
c.2412C>G (p.Thr804=)
c.2430C>G (p.Thr810=)
c.1734C>G (p.Thr578=)
c.1374C>G (p.Thr458=)
c.625C>G
n.3462C>G
n.2009C>G
c.2520C>G (p.Thr840=)
n.212-3595C>G
c.2568C>G (p.Thr856=)
c.2628C>G (p.Thr876=)
c.480C>G (p.Thr160=)
c.2250C>G (p.Thr750=)
c.1332C>G (p.Thr444=)
n.2883C>G
 ClinVar dbSNP gnomAD v4
13g.51950073G=CA2091541928ATP7Bc.*497C= (n.*497C=)
c.*1408C= (n.*1408C=)
c.2178C= (p.Thr726=)
c.2664C= (p.Thr888=)
c.2331C= (p.Thr777=)
c.2412C= (p.Thr804=)
c.2430C= (p.Thr810=)
c.1734C= (p.Thr578=)
c.1374C= (p.Thr458=)
c.625C=
n.3462C=
n.2009C=
c.2520C= (p.Thr840=)
n.212-3595C=
c.2568C= (p.Thr856=)
c.2628C= (p.Thr876=)
c.480C= (p.Thr160=)
c.2250C= (p.Thr750=)
c.1332C= (p.Thr444=)
n.2883C=
13g.51950073G>TCA484024393ATP7Bc.*497C>A (n.*497C>A)
c.*1408C>A (n.*1408C>A)
c.2178C>A (p.Thr726=)
c.2664C>A (p.Thr888=)
c.2331C>A (p.Thr777=)
c.2412C>A (p.Thr804=)
c.2430C>A (p.Thr810=)
c.1734C>A (p.Thr578=)
c.1374C>A (p.Thr458=)
c.625C>A
n.3462C>A
n.2009C>A
c.2520C>A (p.Thr840=)
n.212-3595C>A
c.2568C>A (p.Thr856=)
c.2628C>A (p.Thr876=)
c.480C>A (p.Thr160=)
c.2250C>A (p.Thr750=)
c.1332C>A (p.Thr444=)
n.2883C>A
 ClinVar
13g.51950074G>ACA250085201ATP7Bc.*496C>T (n.*496C>T)
c.*1407C>T (n.*1407C>T)
c.2177C>T (p.Thr726Ile)
c.2663C>T (p.Thr888Ile)
c.2330C>T (p.Thr777Ile)
c.2411C>T (p.Thr804Ile)
c.2429C>T (p.Thr810Ile)
c.1733C>T (p.Thr578Ile)
c.1373C>T (p.Thr458Ile)
c.624C>T
n.3461C>T
n.2008C>T
c.2519C>T (p.Thr840Ile)
n.212-3596C>T
c.2567C>T (p.Thr856Ile)
c.2627C>T (p.Thr876Ile)
c.479C>T (p.Thr160Ile)
c.2249C>T (p.Thr750Ile)
c.1331C>T (p.Thr444Ile)
n.2882C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950074G>CCA388034452ATP7Bc.*496C>G (n.*496C>G)
c.*1407C>G (n.*1407C>G)
c.2177C>G (p.Thr726Ser)
c.2663C>G (p.Thr888Ser)
c.2330C>G (p.Thr777Ser)
c.2411C>G (p.Thr804Ser)
c.2429C>G (p.Thr810Ser)
c.1733C>G (p.Thr578Ser)
c.1373C>G (p.Thr458Ser)
c.624C>G
n.3461C>G
n.2008C>G
c.2519C>G (p.Thr840Ser)
n.212-3596C>G
c.2567C>G (p.Thr856Ser)
c.2627C>G (p.Thr876Ser)
c.479C>G (p.Thr160Ser)
c.2249C>G (p.Thr750Ser)
c.1331C>G (p.Thr444Ser)
n.2882C>G
13g.51950074G=CA2091541931ATP7Bc.*496C= (n.*496C=)
c.*1407C= (n.*1407C=)
c.2177C= (p.Thr726=)
c.2663C= (p.Thr888=)
c.2330C= (p.Thr777=)
c.2411C= (p.Thr804=)
c.2429C= (p.Thr810=)
c.1733C= (p.Thr578=)
c.1373C= (p.Thr458=)
c.624C=
n.3461C=
n.2008C=
c.2519C= (p.Thr840=)
n.212-3596C=
c.2567C= (p.Thr856=)
c.2627C= (p.Thr876=)
c.479C= (p.Thr160=)
c.2249C= (p.Thr750=)
c.1331C= (p.Thr444=)
n.2882C=
13g.51950074G>TCA388034453ATP7Bc.*496C>A (n.*496C>A)
c.*1407C>A (n.*1407C>A)
c.2177C>A (p.Thr726Asn)
c.2663C>A (p.Thr888Asn)
c.2330C>A (p.Thr777Asn)
c.2411C>A (p.Thr804Asn)
c.2429C>A (p.Thr810Asn)
c.1733C>A (p.Thr578Asn)
c.1373C>A (p.Thr458Asn)
c.624C>A
n.3461C>A
n.2008C>A
c.2519C>A (p.Thr840Asn)
n.212-3596C>A
c.2567C>A (p.Thr856Asn)
c.2627C>A (p.Thr876Asn)
c.479C>A (p.Thr160Asn)
c.2249C>A (p.Thr750Asn)
c.1331C>A (p.Thr444Asn)
n.2882C>A
13g.51950075T>ACA388034459ATP7Bc.*495A>T (n.*495A>T)
c.*1406A>T (n.*1406A>T)
c.2176A>T (p.Thr726Ser)
c.2662A>T (p.Thr888Ser)
c.2329A>T (p.Thr777Ser)
c.2410A>T (p.Thr804Ser)
c.2428A>T (p.Thr810Ser)
c.1732A>T (p.Thr578Ser)
c.1372A>T (p.Thr458Ser)
c.623A>T
n.3460A>T
n.2007A>T
c.2518A>T (p.Thr840Ser)
n.212-3597A>T
c.2566A>T (p.Thr856Ser)
c.2626A>T (p.Thr876Ser)
c.478A>T (p.Thr160Ser)
c.2248A>T (p.Thr750Ser)
c.1330A>T (p.Thr444Ser)
n.2881A>T
 ClinVar dbSNP gnomAD v4
13g.51950075T>CCA388034457ATP7Bc.*495A>G (n.*495A>G)
c.*1406A>G (n.*1406A>G)
c.2176A>G (p.Thr726Ala)
c.2662A>G (p.Thr888Ala)
c.2329A>G (p.Thr777Ala)
c.2410A>G (p.Thr804Ala)
c.2428A>G (p.Thr810Ala)
c.1732A>G (p.Thr578Ala)
c.1372A>G (p.Thr458Ala)
c.623A>G
n.3460A>G
n.2007A>G
c.2518A>G (p.Thr840Ala)
n.212-3597A>G
c.2566A>G (p.Thr856Ala)
c.2626A>G (p.Thr876Ala)
c.478A>G (p.Thr160Ala)
c.2248A>G (p.Thr750Ala)
c.1330A>G (p.Thr444Ala)
n.2881A>G
13g.51950075T>GCA388034454ATP7Bc.*495A>C (n.*495A>C)
c.*1406A>C (n.*1406A>C)
c.2176A>C (p.Thr726Pro)
c.2662A>C (p.Thr888Pro)
c.2329A>C (p.Thr777Pro)
c.2410A>C (p.Thr804Pro)
c.2428A>C (p.Thr810Pro)
c.1732A>C (p.Thr578Pro)
c.1372A>C (p.Thr458Pro)
c.623A>C
n.3460A>C
n.2007A>C
c.2518A>C (p.Thr840Pro)
n.212-3597A>C
c.2566A>C (p.Thr856Pro)
c.2626A>C (p.Thr876Pro)
c.478A>C (p.Thr160Pro)
c.2248A>C (p.Thr750Pro)
c.1330A>C (p.Thr444Pro)
n.2881A>C
 ClinVar dbSNP gnomAD v4
13g.51950075T=CA2091541934ATP7Bc.*495A= (n.*495A=)
c.*1406A= (n.*1406A=)
c.2176A= (p.Thr726=)
c.2662A= (p.Thr888=)
c.2329A= (p.Thr777=)
c.2410A= (p.Thr804=)
c.2428A= (p.Thr810=)
c.1732A= (p.Thr578=)
c.1372A= (p.Thr458=)
c.623A=
n.3460A=
n.2007A=
c.2518A= (p.Thr840=)
n.212-3597A=
c.2566A= (p.Thr856=)
c.2626A= (p.Thr876=)
c.478A= (p.Thr160=)
c.2248A= (p.Thr750=)
c.1330A= (p.Thr444=)
n.2881A=
13g.51950076A>CCA484024396ATP7Bc.*494T>G (n.*494T>G)
c.*1405T>G (n.*1405T>G)
c.2175T>G (p.Ala725=)
c.2661T>G (p.Ala887=)
c.2328T>G (p.Ala776=)
c.2409T>G (p.Ala803=)
c.2427T>G (p.Ala809=)
c.1731T>G (p.Ala577=)
c.1371T>G (p.Ala457=)
c.622T>G
n.3459T>G
n.2006T>G
c.2517T>G (p.Ala839=)
n.212-3598T>G
c.2565T>G (p.Ala855=)
c.2625T>G (p.Ala875=)
c.477T>G (p.Ala159=)
c.2247T>G (p.Ala749=)
c.1329T>G (p.Ala443=)
n.2880T>G
13g.51950076A>GCA484024394ATP7Bc.*494T>C (n.*494T>C)
c.*1405T>C (n.*1405T>C)
c.2175T>C (p.Ala725=)
c.2661T>C (p.Ala887=)
c.2328T>C (p.Ala776=)
c.2409T>C (p.Ala803=)
c.2427T>C (p.Ala809=)
c.1731T>C (p.Ala577=)
c.1371T>C (p.Ala457=)
c.622T>C
n.3459T>C
n.2006T>C
c.2517T>C (p.Ala839=)
n.212-3598T>C
c.2565T>C (p.Ala855=)
c.2625T>C (p.Ala875=)
c.477T>C (p.Ala159=)
c.2247T>C (p.Ala749=)
c.1329T>C (p.Ala443=)
n.2880T>C
 gnomAD v4
13g.51950076A>TCA484024395ATP7Bc.*494T>A (n.*494T>A)
c.*1405T>A (n.*1405T>A)
c.2175T>A (p.Ala725=)
c.2661T>A (p.Ala887=)
c.2328T>A (p.Ala776=)
c.2409T>A (p.Ala803=)
c.2427T>A (p.Ala809=)
c.1731T>A (p.Ala577=)
c.1371T>A (p.Ala457=)
c.622T>A
n.3459T>A
n.2006T>A
c.2517T>A (p.Ala839=)
n.212-3598T>A
c.2565T>A (p.Ala855=)
c.2625T>A (p.Ala875=)
c.477T>A (p.Ala159=)
c.2247T>A (p.Ala749=)
c.1329T>A (p.Ala443=)
n.2880T>A
13g.51950077G>ACA388034466ATP7Bc.*493C>T (n.*493C>T)
c.*1404C>T (n.*1404C>T)
c.2174C>T (p.Ala725Val)
c.2660C>T (p.Ala887Val)
c.2327C>T (p.Ala776Val)
c.2408C>T (p.Ala803Val)
c.2426C>T (p.Ala809Val)
c.1730C>T (p.Ala577Val)
c.1370C>T (p.Ala457Val)
c.621C>T
n.3458C>T
n.2005C>T
c.2516C>T (p.Ala839Val)
n.212-3599C>T
c.2564C>T (p.Ala855Val)
c.2624C>T (p.Ala875Val)
c.476C>T (p.Ala159Val)
c.2246C>T (p.Ala749Val)
c.1328C>T (p.Ala443Val)
n.2879C>T
 gnomAD v4
13g.51950077G>CCA388034472ATP7Bc.*493C>G (n.*493C>G)
c.*1404C>G (n.*1404C>G)
c.2174C>G (p.Ala725Gly)
c.2660C>G (p.Ala887Gly)
c.2327C>G (p.Ala776Gly)
c.2408C>G (p.Ala803Gly)
c.2426C>G (p.Ala809Gly)
c.1730C>G (p.Ala577Gly)
c.1370C>G (p.Ala457Gly)
c.621C>G
n.3458C>G
n.2005C>G
c.2516C>G (p.Ala839Gly)
n.212-3599C>G
c.2564C>G (p.Ala855Gly)
c.2624C>G (p.Ala875Gly)
c.476C>G (p.Ala159Gly)
c.2246C>G (p.Ala749Gly)
c.1328C>G (p.Ala443Gly)
n.2879C>G
13g.51950077G>TCA388034473ATP7Bc.*493C>A (n.*493C>A)
c.*1404C>A (n.*1404C>A)
c.2174C>A (p.Ala725Asp)
c.2660C>A (p.Ala887Asp)
c.2327C>A (p.Ala776Asp)
c.2408C>A (p.Ala803Asp)
c.2426C>A (p.Ala809Asp)
c.1730C>A (p.Ala577Asp)
c.1370C>A (p.Ala457Asp)
c.621C>A
n.3458C>A
n.2005C>A
c.2516C>A (p.Ala839Asp)
n.212-3599C>A
c.2564C>A (p.Ala855Asp)
c.2624C>A (p.Ala875Asp)
c.476C>A (p.Ala159Asp)
c.2246C>A (p.Ala749Asp)
c.1328C>A (p.Ala443Asp)
n.2879C>A
13g.51950077dupCA2695218789ATP7Bc.*493dup (n.*493dup)
c.*1404dup (n.*1404dup)
c.2174dup (p.Thr726TyrfsTer6)
c.2660dup (p.Thr888TyrfsTer6)
c.2327dup (p.Thr777TyrfsTer6)
c.2408dup (p.Thr804TyrfsTer6)
c.2426dup (p.Thr810TyrfsTer6)
c.1730dup (p.Thr578TyrfsTer6)
c.1370dup (p.Thr458TyrfsTer6)
c.621dup
n.3458dup
n.2005dup
c.2516dup (p.Thr840TyrfsTer6)
n.212-3599dup
c.2564dup (p.Thr856TyrfsTer6)
c.2624dup (p.Thr876TyrfsTer6)
c.476dup (p.Thr160TyrfsTer6)
c.2246dup (p.Thr750TyrfsTer6)
c.1328dup (p.Thr444TyrfsTer6)
n.2879dup
13g.51950077_51950078delinsGCCA2091541937ATP7Bc.*492_*493delinsGC (n.*492_*493delinsGC)
c.*1403_*1404delinsGC (n.*1403_*1404delinsGC)
c.2173_2174delinsGC (p.Ala725=)
c.2659_2660delinsGC (p.Ala887=)
c.2326_2327delinsGC (p.Ala776=)
c.2407_2408delinsGC (p.Ala803=)
c.2425_2426delinsGC (p.Ala809=)
c.1729_1730delinsGC (p.Ala577=)
c.1369_1370delinsGC (p.Ala457=)
c.620_621delinsGC
n.3457_3458delinsGC
n.2004_2005delinsGC
c.2515_2516delinsGC (p.Ala839=)
n.212-3600_212-3599delinsGC
c.2563_2564delinsGC (p.Ala855=)
c.2623_2624delinsGC (p.Ala875=)
c.475_476delinsGC (p.Ala159=)
c.2245_2246delinsGC (p.Ala749=)
c.1327_1328delinsGC (p.Ala443=)
n.2878_2879delinsGC
13g.51950078delCA2091541941ATP7Bc.*492del (n.*492del)
c.*1403del (n.*1403del)
c.2173del (p.Ala725LeufsTer14)
c.2659del (p.Ala887LeufsTer14)
c.2326del (p.Ala776LeufsTer14)
c.2407del (p.Ala803LeufsTer14)
c.2425del (p.Ala809LeufsTer14)
c.1729del (p.Ala577LeufsTer14)
c.1369del (p.Ala457LeufsTer14)
c.620del
n.3457del
n.2004del
c.2515del (p.Ala839LeufsTer14)
n.212-3600del
c.2563del (p.Ala855LeufsTer14)
c.2623del (p.Ala875LeufsTer14)
c.475del (p.Ala159LeufsTer14)
c.2245del (p.Ala749LeufsTer14)
c.1327del (p.Ala443LeufsTer14)
n.2878del
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950078C>ACA388034475ATP7Bc.*492G>T (n.*492G>T)
c.*1403G>T (n.*1403G>T)
c.2173G>T (p.Ala725Ser)
c.2659G>T (p.Ala887Ser)
c.2326G>T (p.Ala776Ser)
c.2407G>T (p.Ala803Ser)
c.2425G>T (p.Ala809Ser)
c.1729G>T (p.Ala577Ser)
c.1369G>T (p.Ala457Ser)
c.620G>T
n.3457G>T
n.2004G>T
c.2515G>T (p.Ala839Ser)
n.212-3600G>T
c.2563G>T (p.Ala855Ser)
c.2623G>T (p.Ala875Ser)
c.475G>T (p.Ala159Ser)
c.2245G>T (p.Ala749Ser)
c.1327G>T (p.Ala443Ser)
n.2878G>T
13g.51950078C=CA2091541945ATP7Bc.*492G= (n.*492G=)
c.*1403G= (n.*1403G=)
c.2173G= (p.Ala725=)
c.2659G= (p.Ala887=)
c.2326G= (p.Ala776=)
c.2407G= (p.Ala803=)
c.2425G= (p.Ala809=)
c.1729G= (p.Ala577=)
c.1369G= (p.Ala457=)
c.620G=
n.3457G=
n.2004G=
c.2515G= (p.Ala839=)
n.212-3600G=
c.2563G= (p.Ala855=)
c.2623G= (p.Ala875=)
c.475G= (p.Ala159=)
c.2245G= (p.Ala749=)
c.1327G= (p.Ala443=)
n.2878G=
13g.51950078C>GCA388034478ATP7Bc.*492G>C (n.*492G>C)
c.*1403G>C (n.*1403G>C)
c.2173G>C (p.Ala725Pro)
c.2659G>C (p.Ala887Pro)
c.2326G>C (p.Ala776Pro)
c.2407G>C (p.Ala803Pro)
c.2425G>C (p.Ala809Pro)
c.1729G>C (p.Ala577Pro)
c.1369G>C (p.Ala457Pro)
c.620G>C
n.3457G>C
n.2004G>C
c.2515G>C (p.Ala839Pro)
n.212-3600G>C
c.2563G>C (p.Ala855Pro)
c.2623G>C (p.Ala875Pro)
c.475G>C (p.Ala159Pro)
c.2245G>C (p.Ala749Pro)
c.1327G>C (p.Ala443Pro)
n.2878G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51950078C>TCA6988941ATP7Bc.*492G>A (n.*492G>A)
c.*1403G>A (n.*1403G>A)
c.2173G>A (p.Ala725Thr)
c.2659G>A (p.Ala887Thr)
c.2326G>A (p.Ala776Thr)
c.2407G>A (p.Ala803Thr)
c.2425G>A (p.Ala809Thr)
c.1729G>A (p.Ala577Thr)
c.1369G>A (p.Ala457Thr)
c.620G>A
n.3457G>A
n.2004G>A
c.2515G>A (p.Ala839Thr)
n.212-3600G>A
c.2563G>A (p.Ala855Thr)
c.2623G>A (p.Ala875Thr)
c.475G>A (p.Ala159Thr)
c.2245G>A (p.Ala749Thr)
c.1327G>A (p.Ala443Thr)
n.2878G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950079T>ACA388034494ATP7Bc.*491A>T (n.*491A>T)
c.*1402A>T (n.*1402A>T)
c.2172A>T (p.Lys724Asn)
c.2658A>T (p.Lys886Asn)
c.2325A>T (p.Lys775Asn)
c.2406A>T (p.Lys802Asn)
c.2424A>T (p.Lys808Asn)
c.1728A>T (p.Lys576Asn)
c.1368A>T (p.Lys456Asn)
c.619A>T
n.3456A>T
n.2003A>T
c.2514A>T (p.Lys838Asn)
n.212-3601A>T
c.2562A>T (p.Lys854Asn)
c.2622A>T (p.Lys874Asn)
c.474A>T (p.Lys158Asn)
c.2244A>T (p.Lys748Asn)
c.1326A>T (p.Lys442Asn)
n.2877A>T
13g.51950079T>CCA484024397ATP7Bc.*491A>G (n.*491A>G)
c.*1402A>G (n.*1402A>G)
c.2172A>G (p.Lys724=)
c.2658A>G (p.Lys886=)
c.2325A>G (p.Lys775=)
c.2406A>G (p.Lys802=)
c.2424A>G (p.Lys808=)
c.1728A>G (p.Lys576=)
c.1368A>G (p.Lys456=)
c.619A>G
n.3456A>G
n.2003A>G
c.2514A>G (p.Lys838=)
n.212-3601A>G
c.2562A>G (p.Lys854=)
c.2622A>G (p.Lys874=)
c.474A>G (p.Lys158=)
c.2244A>G (p.Lys748=)
c.1326A>G (p.Lys442=)
n.2877A>G
13g.51950079T>GCA388034508ATP7Bc.*491A>C (n.*491A>C)
c.*1402A>C (n.*1402A>C)
c.2172A>C (p.Lys724Asn)
c.2658A>C (p.Lys886Asn)
c.2325A>C (p.Lys775Asn)
c.2406A>C (p.Lys802Asn)
c.2424A>C (p.Lys808Asn)
c.1728A>C (p.Lys576Asn)
c.1368A>C (p.Lys456Asn)
c.619A>C
n.3456A>C
n.2003A>C
c.2514A>C (p.Lys838Asn)
n.212-3601A>C
c.2562A>C (p.Lys854Asn)
c.2622A>C (p.Lys874Asn)
c.474A>C (p.Lys158Asn)
c.2244A>C (p.Lys748Asn)
c.1326A>C (p.Lys442Asn)
n.2877A>C
13g.51950080T>ACA388034510ATP7Bc.*490A>T (n.*490A>T)
c.*1401A>T (n.*1401A>T)
c.2171A>T (p.Lys724Ile)
c.2657A>T (p.Lys886Ile)
c.2324A>T (p.Lys775Ile)
c.2405A>T (p.Lys802Ile)
c.2423A>T (p.Lys808Ile)
c.1727A>T (p.Lys576Ile)
c.1367A>T (p.Lys456Ile)
c.618A>T
n.3455A>T
n.2002A>T
c.2513A>T (p.Lys838Ile)
n.212-3602A>T
c.2561A>T (p.Lys854Ile)
c.2621A>T (p.Lys874Ile)
c.473A>T (p.Lys158Ile)
c.2243A>T (p.Lys748Ile)
c.1325A>T (p.Lys442Ile)
n.2876A>T
13g.51950080T>CCA388034512ATP7Bc.*490A>G (n.*490A>G)
c.*1401A>G (n.*1401A>G)
c.2171A>G (p.Lys724Arg)
c.2657A>G (p.Lys886Arg)
c.2324A>G (p.Lys775Arg)
c.2405A>G (p.Lys802Arg)
c.2423A>G (p.Lys808Arg)
c.1727A>G (p.Lys576Arg)
c.1367A>G (p.Lys456Arg)
c.618A>G
n.3455A>G
n.2002A>G
c.2513A>G (p.Lys838Arg)
n.212-3602A>G
c.2561A>G (p.Lys854Arg)
c.2621A>G (p.Lys874Arg)
c.473A>G (p.Lys158Arg)
c.2243A>G (p.Lys748Arg)
c.1325A>G (p.Lys442Arg)
n.2876A>G
13g.51950080T>GCA388034515ATP7Bc.*490A>C (n.*490A>C)
c.*1401A>C (n.*1401A>C)
c.2171A>C (p.Lys724Thr)
c.2657A>C (p.Lys886Thr)
c.2324A>C (p.Lys775Thr)
c.2405A>C (p.Lys802Thr)
c.2423A>C (p.Lys808Thr)
c.1727A>C (p.Lys576Thr)
c.1367A>C (p.Lys456Thr)
c.618A>C
n.3455A>C
n.2002A>C
c.2513A>C (p.Lys838Thr)
n.212-3602A>C
c.2561A>C (p.Lys854Thr)
c.2621A>C (p.Lys874Thr)
c.473A>C (p.Lys158Thr)
c.2243A>C (p.Lys748Thr)
c.1325A>C (p.Lys442Thr)
n.2876A>C
13g.51950081T>ACA388034519ATP7Bc.*489A>T (n.*489A>T)
c.*1400A>T (n.*1400A>T)
c.2170A>T (p.Lys724Ter)
c.2656A>T (p.Lys886Ter)
c.2323A>T (p.Lys775Ter)
c.2404A>T (p.Lys802Ter)
c.2422A>T (p.Lys808Ter)
c.1726A>T (p.Lys576Ter)
c.1366A>T (p.Lys456Ter)
c.617A>T
n.3454A>T
n.2001A>T
c.2512A>T (p.Lys838Ter)
n.212-3603A>T
c.2560A>T (p.Lys854Ter)
c.2620A>T (p.Lys874Ter)
c.472A>T (p.Lys158Ter)
c.2242A>T (p.Lys748Ter)
c.1324A>T (p.Lys442Ter)
n.2875A>T
13g.51950081T>CCA388034521ATP7Bc.*489A>G (n.*489A>G)
c.*1400A>G (n.*1400A>G)
c.2170A>G (p.Lys724Glu)
c.2656A>G (p.Lys886Glu)
c.2323A>G (p.Lys775Glu)
c.2404A>G (p.Lys802Glu)
c.2422A>G (p.Lys808Glu)
c.1726A>G (p.Lys576Glu)
c.1366A>G (p.Lys456Glu)
c.617A>G
n.3454A>G
n.2001A>G
c.2512A>G (p.Lys838Glu)
n.212-3603A>G
c.2560A>G (p.Lys854Glu)
c.2620A>G (p.Lys874Glu)
c.472A>G (p.Lys158Glu)
c.2242A>G (p.Lys748Glu)
c.1324A>G (p.Lys442Glu)
n.2875A>G
13g.51950081T>GCA388034517ATP7Bc.*489A>C (n.*489A>C)
c.*1400A>C (n.*1400A>C)
c.2170A>C (p.Lys724Gln)
c.2656A>C (p.Lys886Gln)
c.2323A>C (p.Lys775Gln)
c.2404A>C (p.Lys802Gln)
c.2422A>C (p.Lys808Gln)
c.1726A>C (p.Lys576Gln)
c.1366A>C (p.Lys456Gln)
c.617A>C
n.3454A>C
n.2001A>C
c.2512A>C (p.Lys838Gln)
n.212-3603A>C
c.2560A>C (p.Lys854Gln)
c.2620A>C (p.Lys874Gln)
c.472A>C (p.Lys158Gln)
c.2242A>C (p.Lys748Gln)
c.1324A>C (p.Lys442Gln)
n.2875A>C
13g.51950083_51950109delCA2695218790ATP7Bc.*463_*489del (n.*463_*489del)
c.*1374_*1400del (n.*1374_*1400del)
c.2144_2170del (p.Ile715_Ile723del)
c.2630_2656del (p.Ile877_Ile885del)
c.2297_2323del (p.Ile766_Ile774del)
c.2378_2404del (p.Ile793_Ile801del)
c.2396_2422del (p.Ile799_Ile807del)
c.1700_1726del (p.Ile567_Ile575del)
c.1340_1366del (p.Ile447_Ile455del)
c.591_617del
n.3428_3454del
n.1975_2001del
c.2486_2512del (p.Ile829_Ile837del)
n.212-3629_212-3603del
c.2534_2560del (p.Ile845_Ile853del)
c.2594_2620del (p.Ile865_Ile873del)
c.446_472del (p.Ile149_Ile157del)
c.2216_2242del (p.Ile739_Ile747del)
c.1298_1324del (p.Ile433_Ile441del)
n.2849_2875del
13g.51950082A=CA2091541949ATP7Bc.*488T= (n.*488T=)
c.*1399T= (n.*1399T=)
c.2169T= (p.Ile723=)
c.2655T= (p.Ile885=)
c.2322T= (p.Ile774=)
c.2403T= (p.Ile801=)
c.2421T= (p.Ile807=)
c.1725T= (p.Ile575=)
c.1365T= (p.Ile455=)
c.616T=
n.3453T=
n.2000T=
c.2511T= (p.Ile837=)
n.212-3604T=
c.2559T= (p.Ile853=)
c.2619T= (p.Ile873=)
c.471T= (p.Ile157=)
c.2241T= (p.Ile747=)
c.1323T= (p.Ile441=)
n.2874T=
13g.51950082A>CCA388034522ATP7Bc.*488T>G (n.*488T>G)
c.*1399T>G (n.*1399T>G)
c.2169T>G (p.Ile723Met)
c.2655T>G (p.Ile885Met)
c.2322T>G (p.Ile774Met)
c.2403T>G (p.Ile801Met)
c.2421T>G (p.Ile807Met)
c.1725T>G (p.Ile575Met)
c.1365T>G (p.Ile455Met)
c.616T>G
n.3453T>G
n.2000T>G
c.2511T>G (p.Ile837Met)
n.212-3604T>G
c.2559T>G (p.Ile853Met)
c.2619T>G (p.Ile873Met)
c.471T>G (p.Ile157Met)
c.2241T>G (p.Ile747Met)
c.1323T>G (p.Ile441Met)
n.2874T>G
13g.51950082A>GCA484024398ATP7Bc.*488T>C (n.*488T>C)
c.*1399T>C (n.*1399T>C)
c.2169T>C (p.Ile723=)
c.2655T>C (p.Ile885=)
c.2322T>C (p.Ile774=)
c.2403T>C (p.Ile801=)
c.2421T>C (p.Ile807=)
c.1725T>C (p.Ile575=)
c.1365T>C (p.Ile455=)
c.616T>C
n.3453T>C
n.2000T>C
c.2511T>C (p.Ile837=)
n.212-3604T>C
c.2559T>C (p.Ile853=)
c.2619T>C (p.Ile873=)
c.471T>C (p.Ile157=)
c.2241T>C (p.Ile747=)
c.1323T>C (p.Ile441=)
n.2874T>C
 ClinVar dbSNP
13g.51950082A>TCA484024399ATP7Bc.*488T>A (n.*488T>A)
c.*1399T>A (n.*1399T>A)
c.2169T>A (p.Ile723=)
c.2655T>A (p.Ile885=)
c.2322T>A (p.Ile774=)
c.2403T>A (p.Ile801=)
c.2421T>A (p.Ile807=)
c.1725T>A (p.Ile575=)
c.1365T>A (p.Ile455=)
c.616T>A
n.3453T>A
n.2000T>A
c.2511T>A (p.Ile837=)
n.212-3604T>A
c.2559T>A (p.Ile853=)
c.2619T>A (p.Ile873=)
c.471T>A (p.Ile157=)
c.2241T>A (p.Ile747=)
c.1323T>A (p.Ile441=)
n.2874T>A
13g.51950083A>CCA388034529ATP7Bc.*487T>G (n.*487T>G)
c.*1398T>G (n.*1398T>G)
c.2168T>G (p.Ile723Ser)
c.2654T>G (p.Ile885Ser)
c.2321T>G (p.Ile774Ser)
c.2402T>G (p.Ile801Ser)
c.2420T>G (p.Ile807Ser)
c.1724T>G (p.Ile575Ser)
c.1364T>G (p.Ile455Ser)
c.615T>G
n.3452T>G
n.1999T>G
c.2510T>G (p.Ile837Ser)
n.212-3605T>G
c.2558T>G (p.Ile853Ser)
c.2618T>G (p.Ile873Ser)
c.470T>G (p.Ile157Ser)
c.2240T>G (p.Ile747Ser)
c.1322T>G (p.Ile441Ser)
n.2873T>G
13g.51950083A>GCA388034534ATP7Bc.*487T>C (n.*487T>C)
c.*1398T>C (n.*1398T>C)
c.2168T>C (p.Ile723Thr)
c.2654T>C (p.Ile885Thr)
c.2321T>C (p.Ile774Thr)
c.2402T>C (p.Ile801Thr)
c.2420T>C (p.Ile807Thr)
c.1724T>C (p.Ile575Thr)
c.1364T>C (p.Ile455Thr)
c.615T>C
n.3452T>C
n.1999T>C
c.2510T>C (p.Ile837Thr)
n.212-3605T>C
c.2558T>C (p.Ile853Thr)
c.2618T>C (p.Ile873Thr)
c.470T>C (p.Ile157Thr)
c.2240T>C (p.Ile747Thr)
c.1322T>C (p.Ile441Thr)
n.2873T>C
13g.51950083A>TCA388034538ATP7Bc.*487T>A (n.*487T>A)
c.*1398T>A (n.*1398T>A)
c.2168T>A (p.Ile723Asn)
c.2654T>A (p.Ile885Asn)
c.2321T>A (p.Ile774Asn)
c.2402T>A (p.Ile801Asn)
c.2420T>A (p.Ile807Asn)
c.1724T>A (p.Ile575Asn)
c.1364T>A (p.Ile455Asn)
c.615T>A
n.3452T>A
n.1999T>A
c.2510T>A (p.Ile837Asn)
n.212-3605T>A
c.2558T>A (p.Ile853Asn)
c.2618T>A (p.Ile873Asn)
c.470T>A (p.Ile157Asn)
c.2240T>A (p.Ile747Asn)
c.1322T>A (p.Ile441Asn)
n.2873T>A
13g.51950084T>ACA388034549ATP7Bc.*486A>T (n.*486A>T)
c.*1397A>T (n.*1397A>T)
c.2167A>T (p.Ile723Phe)
c.2653A>T (p.Ile885Phe)
c.2320A>T (p.Ile774Phe)
c.2401A>T (p.Ile801Phe)
c.2419A>T (p.Ile807Phe)
c.1723A>T (p.Ile575Phe)
c.1363A>T (p.Ile455Phe)
c.614A>T
n.3451A>T
n.1998A>T
c.2509A>T (p.Ile837Phe)
n.212-3606A>T
c.2557A>T (p.Ile853Phe)
c.2617A>T (p.Ile873Phe)
c.469A>T (p.Ile157Phe)
c.2239A>T (p.Ile747Phe)
c.1321A>T (p.Ile441Phe)
n.2872A>T
13g.51950084T>CCA388034548ATP7Bc.*486A>G (n.*486A>G)
c.*1397A>G (n.*1397A>G)
c.2167A>G (p.Ile723Val)
c.2653A>G (p.Ile885Val)
c.2320A>G (p.Ile774Val)
c.2401A>G (p.Ile801Val)
c.2419A>G (p.Ile807Val)
c.1723A>G (p.Ile575Val)
c.1363A>G (p.Ile455Val)
c.614A>G
n.3451A>G
n.1998A>G
c.2509A>G (p.Ile837Val)
n.212-3606A>G
c.2557A>G (p.Ile853Val)
c.2617A>G (p.Ile873Val)
c.469A>G (p.Ile157Val)
c.2239A>G (p.Ile747Val)
c.1321A>G (p.Ile441Val)
n.2872A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51950084T>GCA388034547ATP7Bc.*486A>C (n.*486A>C)
c.*1397A>C (n.*1397A>C)
c.2167A>C (p.Ile723Leu)
c.2653A>C (p.Ile885Leu)
c.2320A>C (p.Ile774Leu)
c.2401A>C (p.Ile801Leu)
c.2419A>C (p.Ile807Leu)
c.1723A>C (p.Ile575Leu)
c.1363A>C (p.Ile455Leu)
c.614A>C
n.3451A>C
n.1998A>C
c.2509A>C (p.Ile837Leu)
n.212-3606A>C
c.2557A>C (p.Ile853Leu)
c.2617A>C (p.Ile873Leu)
c.469A>C (p.Ile157Leu)
c.2239A>C (p.Ile747Leu)
c.1321A>C (p.Ile441Leu)
n.2872A>C
13g.51950084T=CA2091541951ATP7Bc.*486A= (n.*486A=)
c.*1397A= (n.*1397A=)
c.2167A= (p.Ile723=)
c.2653A= (p.Ile885=)
c.2320A= (p.Ile774=)
c.2401A= (p.Ile801=)
c.2419A= (p.Ile807=)
c.1723A= (p.Ile575=)
c.1363A= (p.Ile455=)
c.614A=
n.3451A=
n.1998A=
c.2509A= (p.Ile837=)
n.212-3606A=
c.2557A= (p.Ile853=)
c.2617A= (p.Ile873=)
c.469A= (p.Ile157=)
c.2239A= (p.Ile747=)
c.1321A= (p.Ile441=)
n.2872A=
13g.51950085G>ACA484024400ATP7Bc.*485C>T (n.*485C>T)
c.*1396C>T (n.*1396C>T)
c.2166C>T (p.Leu722=)
c.2652C>T (p.Leu884=)
c.2319C>T (p.Leu773=)
c.2400C>T (p.Leu800=)
c.2418C>T (p.Leu806=)
c.1722C>T (p.Leu574=)
c.1362C>T (p.Leu454=)
c.613C>T
n.3450C>T
n.1997C>T
c.2508C>T (p.Leu836=)
n.212-3607C>T
c.2556C>T (p.Leu852=)
c.2616C>T (p.Leu872=)
c.468C>T (p.Leu156=)
c.2238C>T (p.Leu746=)
c.1320C>T (p.Leu440=)
n.2871C>T
 ClinVar dbSNP gnomAD v4 COSMIC
13g.51950085G>CCA484024401ATP7Bc.*485C>G (n.*485C>G)
c.*1396C>G (n.*1396C>G)
c.2166C>G (p.Leu722=)
c.2652C>G (p.Leu884=)
c.2319C>G (p.Leu773=)
c.2400C>G (p.Leu800=)
c.2418C>G (p.Leu806=)
c.1722C>G (p.Leu574=)
c.1362C>G (p.Leu454=)
c.613C>G
n.3450C>G
n.1997C>G
c.2508C>G (p.Leu836=)
n.212-3607C>G
c.2556C>G (p.Leu852=)
c.2616C>G (p.Leu872=)
c.468C>G (p.Leu156=)
c.2238C>G (p.Leu746=)
c.1320C>G (p.Leu440=)
n.2871C>G
13g.51950085G>TCA484024402ATP7Bc.*485C>A (n.*485C>A)
c.*1396C>A (n.*1396C>A)
c.2166C>A (p.Leu722=)
c.2652C>A (p.Leu884=)
c.2319C>A (p.Leu773=)
c.2400C>A (p.Leu800=)
c.2418C>A (p.Leu806=)
c.1722C>A (p.Leu574=)
c.1362C>A (p.Leu454=)
c.613C>A
n.3450C>A
n.1997C>A
c.2508C>A (p.Leu836=)
n.212-3607C>A
c.2556C>A (p.Leu852=)
c.2616C>A (p.Leu872=)
c.468C>A (p.Leu156=)
c.2238C>A (p.Leu746=)
c.1320C>A (p.Leu440=)
n.2871C>A
13g.51950085_51950087delCA2695218791ATP7Bc.*483_*485del (n.*483_*485del)
c.*1394_*1396del (n.*1394_*1396del)
c.2164_2166del (p.Leu722del)
c.2650_2652del (p.Leu884del)
c.2317_2319del (p.Leu773del)
c.2398_2400del (p.Leu800del)
c.2416_2418del (p.Leu806del)
c.1720_1722del (p.Leu574del)
c.1360_1362del (p.Leu454del)
c.611_613del
n.3448_3450del
n.1995_1997del
c.2506_2508del (p.Leu836del)
n.212-3609_212-3607del
c.2554_2556del (p.Leu852del)
c.2614_2616del (p.Leu872del)
c.466_468del (p.Leu156del)
c.2236_2238del (p.Leu746del)
c.1318_1320del (p.Leu440del)
n.2869_2871del
13g.51950086A>CCA388034554ATP7Bc.*484T>G (n.*484T>G)
c.*1395T>G (n.*1395T>G)
c.2165T>G (p.Leu722Arg)
c.2651T>G (p.Leu884Arg)
c.2318T>G (p.Leu773Arg)
c.2399T>G (p.Leu800Arg)
c.2417T>G (p.Leu806Arg)
c.1721T>G (p.Leu574Arg)
c.1361T>G (p.Leu454Arg)
c.612T>G
n.3449T>G
n.1996T>G
c.2507T>G (p.Leu836Arg)
n.212-3608T>G
c.2555T>G (p.Leu852Arg)
c.2615T>G (p.Leu872Arg)
c.467T>G (p.Leu156Arg)
c.2237T>G (p.Leu746Arg)
c.1319T>G (p.Leu440Arg)
n.2870T>G
13g.51950086A>GCA388034560ATP7Bc.*484T>C (n.*484T>C)
c.*1395T>C (n.*1395T>C)
c.2165T>C (p.Leu722Pro)
c.2651T>C (p.Leu884Pro)
c.2318T>C (p.Leu773Pro)
c.2399T>C (p.Leu800Pro)
c.2417T>C (p.Leu806Pro)
c.1721T>C (p.Leu574Pro)
c.1361T>C (p.Leu454Pro)
c.612T>C
n.3449T>C
n.1996T>C
c.2507T>C (p.Leu836Pro)
n.212-3608T>C
c.2555T>C (p.Leu852Pro)
c.2615T>C (p.Leu872Pro)
c.467T>C (p.Leu156Pro)
c.2237T>C (p.Leu746Pro)
c.1319T>C (p.Leu440Pro)
n.2870T>C
13g.51950086A>TCA388034562ATP7Bc.*484T>A (n.*484T>A)
c.*1395T>A (n.*1395T>A)
c.2165T>A (p.Leu722His)
c.2651T>A (p.Leu884His)
c.2318T>A (p.Leu773His)
c.2399T>A (p.Leu800His)
c.2417T>A (p.Leu806His)
c.1721T>A (p.Leu574His)
c.1361T>A (p.Leu454His)
c.612T>A
n.3449T>A
n.1996T>A
c.2507T>A (p.Leu836His)
n.212-3608T>A
c.2555T>A (p.Leu852His)
c.2615T>A (p.Leu872His)
c.467T>A (p.Leu156His)
c.2237T>A (p.Leu746His)
c.1319T>A (p.Leu440His)
n.2870T>A
13g.51950087G>ACA388034564ATP7Bc.*483C>T (n.*483C>T)
c.*1394C>T (n.*1394C>T)
c.2164C>T (p.Leu722Phe)
c.2650C>T (p.Leu884Phe)
c.2317C>T (p.Leu773Phe)
c.2398C>T (p.Leu800Phe)
c.2416C>T (p.Leu806Phe)
c.1720C>T (p.Leu574Phe)
c.1360C>T (p.Leu454Phe)
c.611C>T
n.3448C>T
n.1995C>T
c.2506C>T (p.Leu836Phe)
n.212-3609C>T
c.2554C>T (p.Leu852Phe)
c.2614C>T (p.Leu872Phe)
c.466C>T (p.Leu156Phe)
c.2236C>T (p.Leu746Phe)
c.1318C>T (p.Leu440Phe)
n.2869C>T
13g.51950087G>CCA388034565ATP7Bc.*483C>G (n.*483C>G)
c.*1394C>G (n.*1394C>G)
c.2164C>G (p.Leu722Val)
c.2650C>G (p.Leu884Val)
c.2317C>G (p.Leu773Val)
c.2398C>G (p.Leu800Val)
c.2416C>G (p.Leu806Val)
c.1720C>G (p.Leu574Val)
c.1360C>G (p.Leu454Val)
c.611C>G
n.3448C>G
n.1995C>G
c.2506C>G (p.Leu836Val)
n.212-3609C>G
c.2554C>G (p.Leu852Val)
c.2614C>G (p.Leu872Val)
c.466C>G (p.Leu156Val)
c.2236C>G (p.Leu746Val)
c.1318C>G (p.Leu440Val)
n.2869C>G
 gnomAD v4
13g.51950087G>TCA388034567ATP7Bc.*483C>A (n.*483C>A)
c.*1394C>A (n.*1394C>A)
c.2164C>A (p.Leu722Ile)
c.2650C>A (p.Leu884Ile)
c.2317C>A (p.Leu773Ile)
c.2398C>A (p.Leu800Ile)
c.2416C>A (p.Leu806Ile)
c.1720C>A (p.Leu574Ile)
c.1360C>A (p.Leu454Ile)
c.611C>A
n.3448C>A
n.1995C>A
c.2506C>A (p.Leu836Ile)
n.212-3609C>A
c.2554C>A (p.Leu852Ile)
c.2614C>A (p.Leu872Ile)
c.466C>A (p.Leu156Ile)
c.2236C>A (p.Leu746Ile)
c.1318C>A (p.Leu440Ile)
n.2869C>A
13g.51950087_51950089delinsGCACA2091541953ATP7Bc.*481_*483delinsTGC (n.*481_*483delinsTGC)
c.*1392_*1394delinsTGC (n.*1392_*1394delinsTGC)
c.2162_2164delinsTGC (p.Val721=)
c.2648_2650delinsTGC (p.Val883=)
c.2315_2317delinsTGC (p.Val772=)
c.2396_2398delinsTGC (p.Val799=)
c.2414_2416delinsTGC (p.Val805=)
c.1718_1720delinsTGC (p.Val573=)
c.1358_1360delinsTGC (p.Val453=)
c.609_611delinsTGC
n.3446_3448delinsTGC
n.1993_1995delinsTGC
c.2504_2506delinsTGC (p.Val835=)
n.212-3611_212-3609delinsTGC
c.2552_2554delinsTGC (p.Val851=)
c.2612_2614delinsTGC (p.Val871=)
c.464_466delinsTGC (p.Val155=)
c.2234_2236delinsTGC (p.Val745=)
c.1316_1318delinsTGC (p.Val439=)
n.2867_2869delinsTGC
13g.51950090_51950103delCA2499222475ATP7Bc.*470_*483del (n.*470_*483del)
c.*1381_*1394del (n.*1381_*1394del)
c.2151_2164del (p.Gly719Ter)
c.2637_2650del (p.Gly881Ter)
c.2304_2317del (p.Gly770Ter)
c.2385_2398del (p.Gly797Ter)
c.2403_2416del (p.Gly803Ter)
c.1707_1720del (p.Gly571Ter)
c.1347_1360del (p.Gly451Ter)
c.598_611del
n.3435_3448del
n.1982_1995del
c.2493_2506del (p.Gly833Ter)
n.212-3622_212-3609del
c.2541_2554del (p.Gly849Ter)
c.2601_2614del (p.Gly869Ter)
c.453_466del (p.Gly153Ter)
c.2223_2236del (p.Gly743Ter)
c.1305_1318del (p.Gly437Ter)
n.2856_2869del
 ClinVar dbSNP gnomAD v4
13g.51950088C>ACA484024403ATP7Bc.*482G>T (n.*482G>T)
c.*1393G>T (n.*1393G>T)
c.2163G>T (p.Val721=)
c.2649G>T (p.Val883=)
c.2316G>T (p.Val772=)
c.2397G>T (p.Val799=)
c.2415G>T (p.Val805=)
c.1719G>T (p.Val573=)
c.1359G>T (p.Val453=)
c.610G>T
n.3447G>T
n.1994G>T
c.2505G>T (p.Val835=)
n.212-3610G>T
c.2553G>T (p.Val851=)
c.2613G>T (p.Val871=)
c.465G>T (p.Val155=)
c.2235G>T (p.Val745=)
c.1317G>T (p.Val439=)
n.2868G>T
13g.51950088C>GCA484024404ATP7Bc.*482G>C (n.*482G>C)
c.*1393G>C (n.*1393G>C)
c.2163G>C (p.Val721=)
c.2649G>C (p.Val883=)
c.2316G>C (p.Val772=)
c.2397G>C (p.Val799=)
c.2415G>C (p.Val805=)
c.1719G>C (p.Val573=)
c.1359G>C (p.Val453=)
c.610G>C
n.3447G>C
n.1994G>C
c.2505G>C (p.Val835=)
n.212-3610G>C
c.2553G>C (p.Val851=)
c.2613G>C (p.Val871=)
c.465G>C (p.Val155=)
c.2235G>C (p.Val745=)
c.1317G>C (p.Val439=)
n.2868G>C
13g.51950088C>TCA484024405ATP7Bc.*482G>A (n.*482G>A)
c.*1393G>A (n.*1393G>A)
c.2163G>A (p.Val721=)
c.2649G>A (p.Val883=)
c.2316G>A (p.Val772=)
c.2397G>A (p.Val799=)
c.2415G>A (p.Val805=)
c.1719G>A (p.Val573=)
c.1359G>A (p.Val453=)
c.610G>A
n.3447G>A
n.1994G>A
c.2505G>A (p.Val835=)
n.212-3610G>A
c.2553G>A (p.Val851=)
c.2613G>A (p.Val871=)
c.465G>A (p.Val155=)
c.2235G>A (p.Val745=)
c.1317G>A (p.Val439=)
n.2868G>A
 ClinVar gnomAD v4
13g.51950090_51950091delCA2091541955ATP7Bc.*481_*482del (n.*481_*482del)
c.*1392_*1393del (n.*1392_*1393del)
c.2162_2163del (p.Val721AlafsTer3)
c.2648_2649del (p.Val883AlafsTer3)
c.2315_2316del (p.Val772AlafsTer3)
c.2396_2397del (p.Val799AlafsTer3)
c.2414_2415del (p.Val805AlafsTer3)
c.1718_1719del (p.Val573AlafsTer3)
c.1358_1359del (p.Val453AlafsTer3)
c.609_610del
n.3446_3447del
n.1993_1994del
c.2504_2505del (p.Val835AlafsTer3)
n.212-3611_212-3610del
c.2552_2553del (p.Val851AlafsTer3)
c.2612_2613del (p.Val871AlafsTer3)
c.464_465del (p.Val155AlafsTer3)
c.2234_2235del (p.Val745AlafsTer3)
c.1316_1317del (p.Val439AlafsTer3)
n.2867_2868del
 ClinVar dbSNP gnomAD v4
13g.51950089A>CCA388034573ATP7Bc.*481T>G (n.*481T>G)
c.*1392T>G (n.*1392T>G)
c.2162T>G (p.Val721Gly)
c.2648T>G (p.Val883Gly)
c.2315T>G (p.Val772Gly)
c.2396T>G (p.Val799Gly)
c.2414T>G (p.Val805Gly)
c.1718T>G (p.Val573Gly)
c.1358T>G (p.Val453Gly)
c.609T>G
n.3446T>G
n.1993T>G
c.2504T>G (p.Val835Gly)
n.212-3611T>G
c.2552T>G (p.Val851Gly)
c.2612T>G (p.Val871Gly)
c.464T>G (p.Val155Gly)
c.2234T>G (p.Val745Gly)
c.1316T>G (p.Val439Gly)
n.2867T>G
13g.51950089A>GCA388034576ATP7Bc.*481T>C (n.*481T>C)
c.*1392T>C (n.*1392T>C)
c.2162T>C (p.Val721Ala)
c.2648T>C (p.Val883Ala)
c.2315T>C (p.Val772Ala)
c.2396T>C (p.Val799Ala)
c.2414T>C (p.Val805Ala)
c.1718T>C (p.Val573Ala)
c.1358T>C (p.Val453Ala)
c.609T>C
n.3446T>C
n.1993T>C
c.2504T>C (p.Val835Ala)
n.212-3611T>C
c.2552T>C (p.Val851Ala)
c.2612T>C (p.Val871Ala)
c.464T>C (p.Val155Ala)
c.2234T>C (p.Val745Ala)
c.1316T>C (p.Val439Ala)
n.2867T>C
13g.51950089A>TCA388034574ATP7Bc.*481T>A (n.*481T>A)
c.*1392T>A (n.*1392T>A)
c.2162T>A (p.Val721Glu)
c.2648T>A (p.Val883Glu)
c.2315T>A (p.Val772Glu)
c.2396T>A (p.Val799Glu)
c.2414T>A (p.Val805Glu)
c.1718T>A (p.Val573Glu)
c.1358T>A (p.Val453Glu)
c.609T>A
n.3446T>A
n.1993T>A
c.2504T>A (p.Val835Glu)
n.212-3611T>A
c.2552T>A (p.Val851Glu)
c.2612T>A (p.Val871Glu)
c.464T>A (p.Val155Glu)
c.2234T>A (p.Val745Glu)
c.1316T>A (p.Val439Glu)
n.2867T>A
13g.51950090C>ACA388034579ATP7Bc.*480G>T (n.*480G>T)
c.*1391G>T (n.*1391G>T)
c.2161G>T (p.Val721Leu)
c.2647G>T (p.Val883Leu)
c.2314G>T (p.Val772Leu)
c.2395G>T (p.Val799Leu)
c.2413G>T (p.Val805Leu)
c.1717G>T (p.Val573Leu)
c.1357G>T (p.Val453Leu)
c.608G>T
n.3445G>T
n.1992G>T
c.2503G>T (p.Val835Leu)
n.212-3612G>T
c.2551G>T (p.Val851Leu)
c.2611G>T (p.Val871Leu)
c.463G>T (p.Val155Leu)
c.2233G>T (p.Val745Leu)
c.1315G>T (p.Val439Leu)
n.2866G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51950090C=CA2091541959ATP7Bc.*480G= (n.*480G=)
c.*1391G= (n.*1391G=)
c.2161G= (p.Val721=)
c.2647G= (p.Val883=)
c.2314G= (p.Val772=)
c.2395G= (p.Val799=)
c.2413G= (p.Val805=)
c.1717G= (p.Val573=)
c.1357G= (p.Val453=)
c.608G=
n.3445G=
n.1992G=
c.2503G= (p.Val835=)
n.212-3612G=
c.2551G= (p.Val851=)
c.2611G= (p.Val871=)
c.463G= (p.Val155=)
c.2233G= (p.Val745=)
c.1315G= (p.Val439=)
n.2866G=
13g.51950090C>GCA388034583ATP7Bc.*480G>C (n.*480G>C)
c.*1391G>C (n.*1391G>C)
c.2161G>C (p.Val721Leu)
c.2647G>C (p.Val883Leu)
c.2314G>C (p.Val772Leu)
c.2395G>C (p.Val799Leu)
c.2413G>C (p.Val805Leu)
c.1717G>C (p.Val573Leu)
c.1357G>C (p.Val453Leu)
c.608G>C
n.3445G>C
n.1992G>C
c.2503G>C (p.Val835Leu)
n.212-3612G>C
c.2551G>C (p.Val851Leu)
c.2611G>C (p.Val871Leu)
c.463G>C (p.Val155Leu)
c.2233G>C (p.Val745Leu)
c.1315G>C (p.Val439Leu)
n.2866G>C
13g.51950090C>TCA388034584ATP7Bc.*480G>A (n.*480G>A)
c.*1391G>A (n.*1391G>A)
c.2161G>A (p.Val721Met)
c.2647G>A (p.Val883Met)
c.2314G>A (p.Val772Met)
c.2395G>A (p.Val799Met)
c.2413G>A (p.Val805Met)
c.1717G>A (p.Val573Met)
c.1357G>A (p.Val453Met)
c.608G>A
n.3445G>A
n.1992G>A
c.2503G>A (p.Val835Met)
n.212-3612G>A
c.2551G>A (p.Val851Met)
c.2611G>A (p.Val871Met)
c.463G>A (p.Val155Met)
c.2233G>A (p.Val745Met)
c.1315G>A (p.Val439Met)
n.2866G>A
13g.51950091A=CA2091541961ATP7Bc.*479T= (n.*479T=)
c.*1390T= (n.*1390T=)
c.2160T= (p.Ser720=)
c.2646T= (p.Ser882=)
c.2313T= (p.Ser771=)
c.2394T= (p.Ser798=)
c.2412T= (p.Ser804=)
c.1716T= (p.Ser572=)
c.1356T= (p.Ser452=)
c.607T=
n.3444T=
n.1991T=
c.2502T= (p.Ser834=)
n.212-3613T=
c.2550T= (p.Ser850=)
c.2610T= (p.Ser870=)
c.462T= (p.Ser154=)
c.2232T= (p.Ser744=)
c.1314T= (p.Ser438=)
n.2865T=
13g.51950091A>CCA484024406ATP7Bc.*479T>G (n.*479T>G)
c.*1390T>G (n.*1390T>G)
c.2160T>G (p.Ser720=)
c.2646T>G (p.Ser882=)
c.2313T>G (p.Ser771=)
c.2394T>G (p.Ser798=)
c.2412T>G (p.Ser804=)
c.1716T>G (p.Ser572=)
c.1356T>G (p.Ser452=)
c.607T>G
n.3444T>G
n.1991T>G
c.2502T>G (p.Ser834=)
n.212-3613T>G
c.2550T>G (p.Ser850=)
c.2610T>G (p.Ser870=)
c.462T>G (p.Ser154=)
c.2232T>G (p.Ser744=)
c.1314T>G (p.Ser438=)
n.2865T>G
13g.51950091A>GCA484024407ATP7Bc.*479T>C (n.*479T>C)
c.*1390T>C (n.*1390T>C)
c.2160T>C (p.Ser720=)
c.2646T>C (p.Ser882=)
c.2313T>C (p.Ser771=)
c.2394T>C (p.Ser798=)
c.2412T>C (p.Ser804=)
c.1716T>C (p.Ser572=)
c.1356T>C (p.Ser452=)
c.607T>C
n.3444T>C
n.1991T>C
c.2502T>C (p.Ser834=)
n.212-3613T>C
c.2550T>C (p.Ser850=)
c.2610T>C (p.Ser870=)
c.462T>C (p.Ser154=)
c.2232T>C (p.Ser744=)
c.1314T>C (p.Ser438=)
n.2865T>C
13g.51950091A>TCA484024408ATP7Bc.*479T>A (n.*479T>A)
c.*1390T>A (n.*1390T>A)
c.2160T>A (p.Ser720=)
c.2646T>A (p.Ser882=)
c.2313T>A (p.Ser771=)
c.2394T>A (p.Ser798=)
c.2412T>A (p.Ser804=)
c.1716T>A (p.Ser572=)
c.1356T>A (p.Ser452=)
c.607T>A
n.3444T>A
n.1991T>A
c.2502T>A (p.Ser834=)
n.212-3613T>A
c.2550T>A (p.Ser850=)
c.2610T>A (p.Ser870=)
c.462T>A (p.Ser154=)
c.2232T>A (p.Ser744=)
c.1314T>A (p.Ser438=)
n.2865T>A
13g.51950093_51950094delCA2695218792ATP7Bc.*478_*479del (n.*478_*479del)
c.*1389_*1390del (n.*1389_*1390del)
c.2159_2160del (p.Ser720CysfsTer4)
c.2645_2646del (p.Ser882CysfsTer4)
c.2312_2313del (p.Ser771CysfsTer4)
c.2393_2394del (p.Ser798CysfsTer4)
c.2411_2412del (p.Ser804CysfsTer4)
c.1715_1716del (p.Ser572CysfsTer4)
c.1355_1356del (p.Ser452CysfsTer4)
c.606_607del
n.3443_3444del
n.1990_1991del
c.2501_2502del (p.Ser834CysfsTer4)
n.212-3614_212-3613del
c.2549_2550del (p.Ser850CysfsTer4)
c.2609_2610del (p.Ser870CysfsTer4)
c.461_462del (p.Ser154CysfsTer4)
c.2231_2232del (p.Ser744CysfsTer4)
c.1313_1314del (p.Ser438CysfsTer4)
n.2864_2865del
13g.51950092G>ACA6988942ATP7Bc.*478C>T (n.*478C>T)
c.*1389C>T (n.*1389C>T)
c.2159C>T (p.Ser720Phe)
c.2645C>T (p.Ser882Phe)
c.2312C>T (p.Ser771Phe)
c.2393C>T (p.Ser798Phe)
c.2411C>T (p.Ser804Phe)
c.1715C>T (p.Ser572Phe)
c.1355C>T (p.Ser452Phe)
c.606C>T
n.3443C>T
n.1990C>T
c.2501C>T (p.Ser834Phe)
n.212-3614C>T
c.2549C>T (p.Ser850Phe)
c.2609C>T (p.Ser870Phe)
c.461C>T (p.Ser154Phe)
c.2231C>T (p.Ser744Phe)
c.1313C>T (p.Ser438Phe)
n.2864C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950092G>CCA388034593ATP7Bc.*478C>G (n.*478C>G)
c.*1389C>G (n.*1389C>G)
c.2159C>G (p.Ser720Cys)
c.2645C>G (p.Ser882Cys)
c.2312C>G (p.Ser771Cys)
c.2393C>G (p.Ser798Cys)
c.2411C>G (p.Ser804Cys)
c.1715C>G (p.Ser572Cys)
c.1355C>G (p.Ser452Cys)
c.606C>G
n.3443C>G
n.1990C>G
c.2501C>G (p.Ser834Cys)
n.212-3614C>G
c.2549C>G (p.Ser850Cys)
c.2609C>G (p.Ser870Cys)
c.461C>G (p.Ser154Cys)
c.2231C>G (p.Ser744Cys)
c.1313C>G (p.Ser438Cys)
n.2864C>G
 gnomAD v4
13g.51950092G=CA2091541965ATP7Bc.*478C= (n.*478C=)
c.*1389C= (n.*1389C=)
c.2159C= (p.Ser720=)
c.2645C= (p.Ser882=)
c.2312C= (p.Ser771=)
c.2393C= (p.Ser798=)
c.2411C= (p.Ser804=)
c.1715C= (p.Ser572=)
c.1355C= (p.Ser452=)
c.606C=
n.3443C=
n.1990C=
c.2501C= (p.Ser834=)
n.212-3614C=
c.2549C= (p.Ser850=)
c.2609C= (p.Ser870=)
c.461C= (p.Ser154=)
c.2231C= (p.Ser744=)
c.1313C= (p.Ser438=)
n.2864C=
13g.51950092G>TCA388034594ATP7Bc.*478C>A (n.*478C>A)
c.*1389C>A (n.*1389C>A)
c.2159C>A (p.Ser720Tyr)
c.2645C>A (p.Ser882Tyr)
c.2312C>A (p.Ser771Tyr)
c.2393C>A (p.Ser798Tyr)
c.2411C>A (p.Ser804Tyr)
c.1715C>A (p.Ser572Tyr)
c.1355C>A (p.Ser452Tyr)
c.606C>A
n.3443C>A
n.1990C>A
c.2501C>A (p.Ser834Tyr)
n.212-3614C>A
c.2549C>A (p.Ser850Tyr)
c.2609C>A (p.Ser870Tyr)
c.461C>A (p.Ser154Tyr)
c.2231C>A (p.Ser744Tyr)
c.1313C>A (p.Ser438Tyr)
n.2864C>A
13g.51950092_51950094dupCA698889540ATP7Bc.*476_*478dup (n.*476_*478dup)
c.*1387_*1389dup (n.*1387_*1389dup)
c.2157_2159dup (p.Ser720_Val721insSer)
c.2643_2645dup (p.Ser882_Val883insSer)
c.2310_2312dup (p.Ser771_Val772insSer)
c.2391_2393dup (p.Ser798_Val799insSer)
c.2409_2411dup (p.Ser804_Val805insSer)
c.1713_1715dup (p.Ser572_Val573insSer)
c.1353_1355dup (p.Ser452_Val453insSer)
c.604_606dup
n.3441_3443dup
n.1988_1990dup
c.2499_2501dup (p.Ser834_Val835insSer)
n.212-3616_212-3614dup
c.2547_2549dup (p.Ser850_Val851insSer)
c.2607_2609dup (p.Ser870_Val871insSer)
c.459_461dup (p.Ser154_Val155insSer)
c.2229_2231dup (p.Ser744_Val745insSer)
c.1311_1313dup (p.Ser438_Val439insSer)
n.2862_2864dup
 dbSNP
13g.51950093A=CA2091541968ATP7Bc.*477T= (n.*477T=)
c.*1388T= (n.*1388T=)
c.2158T= (p.Ser720=)
c.2644T= (p.Ser882=)
c.2311T= (p.Ser771=)
c.2392T= (p.Ser798=)
c.2410T= (p.Ser804=)
c.1714T= (p.Ser572=)
c.1354T= (p.Ser452=)
c.605T=
n.3442T=
n.1989T=
c.2500T= (p.Ser834=)
n.212-3615T=
c.2548T= (p.Ser850=)
c.2608T= (p.Ser870=)
c.460T= (p.Ser154=)
c.2230T= (p.Ser744=)
c.1312T= (p.Ser438=)
n.2863T=
13g.51950093A>CCA388034597ATP7Bc.*477T>G (n.*477T>G)
c.*1388T>G (n.*1388T>G)
c.2158T>G (p.Ser720Ala)
c.2644T>G (p.Ser882Ala)
c.2311T>G (p.Ser771Ala)
c.2392T>G (p.Ser798Ala)
c.2410T>G (p.Ser804Ala)
c.1714T>G (p.Ser572Ala)
c.1354T>G (p.Ser452Ala)
c.605T>G
n.3442T>G
n.1989T>G
c.2500T>G (p.Ser834Ala)
n.212-3615T>G
c.2548T>G (p.Ser850Ala)
c.2608T>G (p.Ser870Ala)
c.460T>G (p.Ser154Ala)
c.2230T>G (p.Ser744Ala)
c.1312T>G (p.Ser438Ala)
n.2863T>G
13g.51950093A>GCA6988943ATP7Bc.*477T>C (n.*477T>C)
c.*1388T>C (n.*1388T>C)
c.2158T>C (p.Ser720Pro)
c.2644T>C (p.Ser882Pro)
c.2311T>C (p.Ser771Pro)
c.2392T>C (p.Ser798Pro)
c.2410T>C (p.Ser804Pro)
c.1714T>C (p.Ser572Pro)
c.1354T>C (p.Ser452Pro)
c.605T>C
n.3442T>C
n.1989T>C
c.2500T>C (p.Ser834Pro)
n.212-3615T>C
c.2548T>C (p.Ser850Pro)
c.2608T>C (p.Ser870Pro)
c.460T>C (p.Ser154Pro)
c.2230T>C (p.Ser744Pro)
c.1312T>C (p.Ser438Pro)
n.2863T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950093A>TCA388034601ATP7Bc.*477T>A (n.*477T>A)
c.*1388T>A (n.*1388T>A)
c.2158T>A (p.Ser720Thr)
c.2644T>A (p.Ser882Thr)
c.2311T>A (p.Ser771Thr)
c.2392T>A (p.Ser798Thr)
c.2410T>A (p.Ser804Thr)
c.1714T>A (p.Ser572Thr)
c.1354T>A (p.Ser452Thr)
c.605T>A
n.3442T>A
n.1989T>A
c.2500T>A (p.Ser834Thr)
n.212-3615T>A
c.2548T>A (p.Ser850Thr)
c.2608T>A (p.Ser870Thr)
c.460T>A (p.Ser154Thr)
c.2230T>A (p.Ser744Thr)
c.1312T>A (p.Ser438Thr)
n.2863T>A
13g.51950094G>ACA484024409ATP7Bc.*476C>T (n.*476C>T)
c.*1387C>T (n.*1387C>T)
c.2157C>T (p.Gly719=)
c.2643C>T (p.Gly881=)
c.2310C>T (p.Gly770=)
c.2391C>T (p.Gly797=)
c.2409C>T (p.Gly803=)
c.1713C>T (p.Gly571=)
c.1353C>T (p.Gly451=)
c.604C>T
n.3441C>T
n.1988C>T
c.2499C>T (p.Gly833=)
n.212-3616C>T
c.2547C>T (p.Gly849=)
c.2607C>T (p.Gly869=)
c.459C>T (p.Gly153=)
c.2229C>T (p.Gly743=)
c.1311C>T (p.Gly437=)
n.2862C>T
 dbSNP
13g.51950094G>CCA484024410ATP7Bc.*476C>G (n.*476C>G)
c.*1387C>G (n.*1387C>G)
c.2157C>G (p.Gly719=)
c.2643C>G (p.Gly881=)
c.2310C>G (p.Gly770=)
c.2391C>G (p.Gly797=)
c.2409C>G (p.Gly803=)
c.1713C>G (p.Gly571=)
c.1353C>G (p.Gly451=)
c.604C>G
n.3441C>G
n.1988C>G
c.2499C>G (p.Gly833=)
n.212-3616C>G
c.2547C>G (p.Gly849=)
c.2607C>G (p.Gly869=)
c.459C>G (p.Gly153=)
c.2229C>G (p.Gly743=)
c.1311C>G (p.Gly437=)
n.2862C>G
13g.51950094G=CA2091541972ATP7Bc.*476C= (n.*476C=)
c.*1387C= (n.*1387C=)
c.2157C= (p.Gly719=)
c.2643C= (p.Gly881=)
c.2310C= (p.Gly770=)
c.2391C= (p.Gly797=)
c.2409C= (p.Gly803=)
c.1713C= (p.Gly571=)
c.1353C= (p.Gly451=)
c.604C=
n.3441C=
n.1988C=
c.2499C= (p.Gly833=)
n.212-3616C=
c.2547C= (p.Gly849=)
c.2607C= (p.Gly869=)
c.459C= (p.Gly153=)
c.2229C= (p.Gly743=)
c.1311C= (p.Gly437=)
n.2862C=
13g.51950094G>TCA484024411ATP7Bc.*476C>A (n.*476C>A)
c.*1387C>A (n.*1387C>A)
c.2157C>A (p.Gly719=)
c.2643C>A (p.Gly881=)
c.2310C>A (p.Gly770=)
c.2391C>A (p.Gly797=)
c.2409C>A (p.Gly803=)
c.1713C>A (p.Gly571=)
c.1353C>A (p.Gly451=)
c.604C>A
n.3441C>A
n.1988C>A
c.2499C>A (p.Gly833=)
n.212-3616C>A
c.2547C>A (p.Gly849=)
c.2607C>A (p.Gly869=)
c.459C>A (p.Gly153=)
c.2229C>A (p.Gly743=)
c.1311C>A (p.Gly437=)
n.2862C>A
13g.51950096_51950117delCA2573149692ATP7Bc.*455_*476del (n.*455_*476del)
c.*1366_*1387del (n.*1366_*1387del)
c.2136_2157del (p.Gly713LeufsTer19)
c.2622_2643del (p.Gly875LeufsTer19)
c.2289_2310del (p.Gly764LeufsTer19)
c.2370_2391del (p.Gly791LeufsTer19)
c.2388_2409del (p.Gly797LeufsTer19)
c.1692_1713del (p.Gly565LeufsTer19)
c.1332_1353del (p.Gly445LeufsTer19)
c.583_604del
n.3420_3441del
n.1967_1988del
c.2478_2499del (p.Gly827LeufsTer19)
n.212-3637_212-3616del
c.2526_2547del (p.Gly843LeufsTer19)
c.2586_2607del (p.Gly863LeufsTer19)
c.438_459del (p.Gly147LeufsTer19)
c.2208_2229del (p.Gly737LeufsTer19)
c.1290_1311del (p.Gly431LeufsTer19)
n.2841_2862del
 ClinVar dbSNP
13g.51950095C>ACA388034604ATP7Bc.*475G>T (n.*475G>T)
c.*1386G>T (n.*1386G>T)
c.2156G>T (p.Gly719Val)
c.2642G>T (p.Gly881Val)
c.2309G>T (p.Gly770Val)
c.2390G>T (p.Gly797Val)
c.2408G>T (p.Gly803Val)
c.1712G>T (p.Gly571Val)
c.1352G>T (p.Gly451Val)
c.603G>T
n.3440G>T
n.1987G>T
c.2498G>T (p.Gly833Val)
n.212-3617G>T
c.2546G>T (p.Gly849Val)
c.2606G>T (p.Gly869Val)
c.458G>T (p.Gly153Val)
c.2228G>T (p.Gly743Val)
c.1310G>T (p.Gly437Val)
n.2861G>T
13g.51950095C>GCA388034607ATP7Bc.*475G>C (n.*475G>C)
c.*1386G>C (n.*1386G>C)
c.2156G>C (p.Gly719Ala)
c.2642G>C (p.Gly881Ala)
c.2309G>C (p.Gly770Ala)
c.2390G>C (p.Gly797Ala)
c.2408G>C (p.Gly803Ala)
c.1712G>C (p.Gly571Ala)
c.1352G>C (p.Gly451Ala)
c.603G>C
n.3440G>C
n.1987G>C
c.2498G>C (p.Gly833Ala)
n.212-3617G>C
c.2546G>C (p.Gly849Ala)
c.2606G>C (p.Gly869Ala)
c.458G>C (p.Gly153Ala)
c.2228G>C (p.Gly743Ala)
c.1310G>C (p.Gly437Ala)
n.2861G>C
 gnomAD v4
13g.51950095C>TCA388034610ATP7Bc.*475G>A (n.*475G>A)
c.*1386G>A (n.*1386G>A)
c.2156G>A (p.Gly719Asp)
c.2642G>A (p.Gly881Asp)
c.2309G>A (p.Gly770Asp)
c.2390G>A (p.Gly797Asp)
c.2408G>A (p.Gly803Asp)
c.1712G>A (p.Gly571Asp)
c.1352G>A (p.Gly451Asp)
c.603G>A
n.3440G>A
n.1987G>A
c.2498G>A (p.Gly833Asp)
n.212-3617G>A
c.2546G>A (p.Gly849Asp)
c.2606G>A (p.Gly869Asp)
c.458G>A (p.Gly153Asp)
c.2228G>A (p.Gly743Asp)
c.1310G>A (p.Gly437Asp)
n.2861G>A
 dbSNP gnomAD v4
13g.51950096C>ACA388034617ATP7Bc.*474G>T (n.*474G>T)
c.*1385G>T (n.*1385G>T)
c.2155G>T (p.Gly719Cys)
c.2641G>T (p.Gly881Cys)
c.2308G>T (p.Gly770Cys)
c.2389G>T (p.Gly797Cys)
c.2407G>T (p.Gly803Cys)
c.1711G>T (p.Gly571Cys)
c.1351G>T (p.Gly451Cys)
c.602G>T
n.3439G>T
n.1986G>T
c.2497G>T (p.Gly833Cys)
n.212-3618G>T
c.2545G>T (p.Gly849Cys)
c.2605G>T (p.Gly869Cys)
c.457G>T (p.Gly153Cys)
c.2227G>T (p.Gly743Cys)
c.1309G>T (p.Gly437Cys)
n.2860G>T
13g.51950096C>GCA388034619ATP7Bc.*474G>C (n.*474G>C)
c.*1385G>C (n.*1385G>C)
c.2155G>C (p.Gly719Arg)
c.2641G>C (p.Gly881Arg)
c.2308G>C (p.Gly770Arg)
c.2389G>C (p.Gly797Arg)
c.2407G>C (p.Gly803Arg)
c.1711G>C (p.Gly571Arg)
c.1351G>C (p.Gly451Arg)
c.602G>C
n.3439G>C
n.1986G>C
c.2497G>C (p.Gly833Arg)
n.212-3618G>C
c.2545G>C (p.Gly849Arg)
c.2605G>C (p.Gly869Arg)
c.457G>C (p.Gly153Arg)
c.2227G>C (p.Gly743Arg)
c.1309G>C (p.Gly437Arg)
n.2860G>C
13g.51950096C>TCA388034612ATP7Bc.*474G>A (n.*474G>A)
c.*1385G>A (n.*1385G>A)
c.2155G>A (p.Gly719Ser)
c.2641G>A (p.Gly881Ser)
c.2308G>A (p.Gly770Ser)
c.2389G>A (p.Gly797Ser)
c.2407G>A (p.Gly803Ser)
c.1711G>A (p.Gly571Ser)
c.1351G>A (p.Gly451Ser)
c.602G>A
n.3439G>A
n.1986G>A
c.2497G>A (p.Gly833Ser)
n.212-3618G>A
c.2545G>A (p.Gly849Ser)
c.2605G>A (p.Gly869Ser)
c.457G>A (p.Gly153Ser)
c.2227G>A (p.Gly743Ser)
c.1309G>A (p.Gly437Ser)
n.2860G>A
 ClinVar dbSNP
13g.51950097A>CCA388034628ATP7Bc.*473T>G (n.*473T>G)
c.*1384T>G (n.*1384T>G)
c.2154T>G (p.His718Gln)
c.2640T>G (p.His880Gln)
c.2307T>G (p.His769Gln)
c.2388T>G (p.His796Gln)
c.2406T>G (p.His802Gln)
c.1710T>G (p.His570Gln)
c.1350T>G (p.His450Gln)
c.601T>G
n.3438T>G
n.1985T>G
c.2496T>G (p.His832Gln)
n.212-3619T>G
c.2544T>G (p.His848Gln)
c.2604T>G (p.His868Gln)
c.456T>G (p.His152Gln)
c.2226T>G (p.His742Gln)
c.1308T>G (p.His436Gln)
n.2859T>G
13g.51950097A>GCA484024412ATP7Bc.*473T>C (n.*473T>C)
c.*1384T>C (n.*1384T>C)
c.2154T>C (p.His718=)
c.2640T>C (p.His880=)
c.2307T>C (p.His769=)
c.2388T>C (p.His796=)
c.2406T>C (p.His802=)
c.1710T>C (p.His570=)
c.1350T>C (p.His450=)
c.601T>C
n.3438T>C
n.1985T>C
c.2496T>C (p.His832=)
n.212-3619T>C
c.2544T>C (p.His848=)
c.2604T>C (p.His868=)
c.456T>C (p.His152=)
c.2226T>C (p.His742=)
c.1308T>C (p.His436=)
n.2859T>C
13g.51950097A>TCA388034622ATP7Bc.*473T>A (n.*473T>A)
c.*1384T>A (n.*1384T>A)
c.2154T>A (p.His718Gln)
c.2640T>A (p.His880Gln)
c.2307T>A (p.His769Gln)
c.2388T>A (p.His796Gln)
c.2406T>A (p.His802Gln)
c.1710T>A (p.His570Gln)
c.1350T>A (p.His450Gln)
c.601T>A
n.3438T>A
n.1985T>A
c.2496T>A (p.His832Gln)
n.212-3619T>A
c.2544T>A (p.His848Gln)
c.2604T>A (p.His868Gln)
c.456T>A (p.His152Gln)
c.2226T>A (p.His742Gln)
c.1308T>A (p.His436Gln)
n.2859T>A
13g.51950098T>ACA388034632ATP7Bc.*472A>T (n.*472A>T)
c.*1383A>T (n.*1383A>T)
c.2153A>T (p.His718Leu)
c.2639A>T (p.His880Leu)
c.2306A>T (p.His769Leu)
c.2387A>T (p.His796Leu)
c.2405A>T (p.His802Leu)
c.1709A>T (p.His570Leu)
c.1349A>T (p.His450Leu)
c.600A>T
n.3437A>T
n.1984A>T
c.2495A>T (p.His832Leu)
n.212-3620A>T
c.2543A>T (p.His848Leu)
c.2603A>T (p.His868Leu)
c.455A>T (p.His152Leu)
c.2225A>T (p.His742Leu)
c.1307A>T (p.His436Leu)
n.2858A>T
13g.51950098T>CCA388034635ATP7Bc.*472A>G (n.*472A>G)
c.*1383A>G (n.*1383A>G)
c.2153A>G (p.His718Arg)
c.2639A>G (p.His880Arg)
c.2306A>G (p.His769Arg)
c.2387A>G (p.His796Arg)
c.2405A>G (p.His802Arg)
c.1709A>G (p.His570Arg)
c.1349A>G (p.His450Arg)
c.600A>G
n.3437A>G
n.1984A>G
c.2495A>G (p.His832Arg)
n.212-3620A>G
c.2543A>G (p.His848Arg)
c.2603A>G (p.His868Arg)
c.455A>G (p.His152Arg)
c.2225A>G (p.His742Arg)
c.1307A>G (p.His436Arg)
n.2858A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51950098T>GCA388034638ATP7Bc.*472A>C (n.*472A>C)
c.*1383A>C (n.*1383A>C)
c.2153A>C (p.His718Pro)
c.2639A>C (p.His880Pro)
c.2306A>C (p.His769Pro)
c.2387A>C (p.His796Pro)
c.2405A>C (p.His802Pro)
c.1709A>C (p.His570Pro)
c.1349A>C (p.His450Pro)
c.600A>C
n.3437A>C
n.1984A>C
c.2495A>C (p.His832Pro)
n.212-3620A>C
c.2543A>C (p.His848Pro)
c.2603A>C (p.His868Pro)
c.455A>C (p.His152Pro)
c.2225A>C (p.His742Pro)
c.1307A>C (p.His436Pro)
n.2858A>C
13g.51950098T=CA2091541976ATP7Bc.*472A= (n.*472A=)
c.*1383A= (n.*1383A=)
c.2153A= (p.His718=)
c.2639A= (p.His880=)
c.2306A= (p.His769=)
c.2387A= (p.His796=)
c.2405A= (p.His802=)
c.1709A= (p.His570=)
c.1349A= (p.His450=)
c.600A=
n.3437A=
n.1984A=
c.2495A= (p.His832=)
n.212-3620A=
c.2543A= (p.His848=)
c.2603A= (p.His868=)
c.455A= (p.His152=)
c.2225A= (p.His742=)
c.1307A= (p.His436=)
n.2858A=
13g.51950099G>ACA388034641ATP7Bc.*471C>T (n.*471C>T)
c.*1382C>T (n.*1382C>T)
c.2152C>T (p.His718Tyr)
c.2638C>T (p.His880Tyr)
c.2305C>T (p.His769Tyr)
c.2386C>T (p.His796Tyr)
c.2404C>T (p.His802Tyr)
c.1708C>T (p.His570Tyr)
c.1348C>T (p.His450Tyr)
c.599C>T
n.3436C>T
n.1983C>T
c.2494C>T (p.His832Tyr)
n.212-3621C>T
c.2542C>T (p.His848Tyr)
c.2602C>T (p.His868Tyr)
c.454C>T (p.His152Tyr)
c.2224C>T (p.His742Tyr)
c.1306C>T (p.His436Tyr)
n.2857C>T
13g.51950099G>CCA388034644ATP7Bc.*471C>G (n.*471C>G)
c.*1382C>G (n.*1382C>G)
c.2152C>G (p.His718Asp)
c.2638C>G (p.His880Asp)
c.2305C>G (p.His769Asp)
c.2386C>G (p.His796Asp)
c.2404C>G (p.His802Asp)
c.1708C>G (p.His570Asp)
c.1348C>G (p.His450Asp)
c.599C>G
n.3436C>G
n.1983C>G
c.2494C>G (p.His832Asp)
n.212-3621C>G
c.2542C>G (p.His848Asp)
c.2602C>G (p.His868Asp)
c.454C>G (p.His152Asp)
c.2224C>G (p.His742Asp)
c.1306C>G (p.His436Asp)
n.2857C>G
 gnomAD v4
13g.51950099G>TCA388034657ATP7Bc.*471C>A (n.*471C>A)
c.*1382C>A (n.*1382C>A)
c.2152C>A (p.His718Asn)
c.2638C>A (p.His880Asn)
c.2305C>A (p.His769Asn)
c.2386C>A (p.His796Asn)
c.2404C>A (p.His802Asn)
c.1708C>A (p.His570Asn)
c.1348C>A (p.His450Asn)
c.599C>A
n.3436C>A
n.1983C>A
c.2494C>A (p.His832Asn)
n.212-3621C>A
c.2542C>A (p.His848Asn)
c.2602C>A (p.His868Asn)
c.454C>A (p.His152Asn)
c.2224C>A (p.His742Asn)
c.1306C>A (p.His436Asn)
n.2857C>A
13g.51950100T>ACA484024413ATP7Bc.*470A>T (n.*470A>T)
c.*1381A>T (n.*1381A>T)
c.2151A>T (p.Ala717=)
c.2637A>T (p.Ala879=)
c.2304A>T (p.Ala768=)
c.2385A>T (p.Ala795=)
c.2403A>T (p.Ala801=)
c.1707A>T (p.Ala569=)
c.1347A>T (p.Ala449=)
c.598A>T
n.3435A>T
n.1982A>T
c.2493A>T (p.Ala831=)
n.212-3622A>T
c.2541A>T (p.Ala847=)
c.2601A>T (p.Ala867=)
c.453A>T (p.Ala151=)
c.2223A>T (p.Ala741=)
c.1305A>T (p.Ala435=)
n.2856A>T
13g.51950100T>CCA484024414ATP7Bc.*470A>G (n.*470A>G)
c.*1381A>G (n.*1381A>G)
c.2151A>G (p.Ala717=)
c.2637A>G (p.Ala879=)
c.2304A>G (p.Ala768=)
c.2385A>G (p.Ala795=)
c.2403A>G (p.Ala801=)
c.1707A>G (p.Ala569=)
c.1347A>G (p.Ala449=)
c.598A>G
n.3435A>G
n.1982A>G
c.2493A>G (p.Ala831=)
n.212-3622A>G
c.2541A>G (p.Ala847=)
c.2601A>G (p.Ala867=)
c.453A>G (p.Ala151=)
c.2223A>G (p.Ala741=)
c.1305A>G (p.Ala435=)
n.2856A>G
13g.51950100T>GCA484024415ATP7Bc.*470A>C (n.*470A>C)
c.*1381A>C (n.*1381A>C)
c.2151A>C (p.Ala717=)
c.2637A>C (p.Ala879=)
c.2304A>C (p.Ala768=)
c.2385A>C (p.Ala795=)
c.2403A>C (p.Ala801=)
c.1707A>C (p.Ala569=)
c.1347A>C (p.Ala449=)
c.598A>C
n.3435A>C
n.1982A>C
c.2493A>C (p.Ala831=)
n.212-3622A>C
c.2541A>C (p.Ala847=)
c.2601A>C (p.Ala867=)
c.453A>C (p.Ala151=)
c.2223A>C (p.Ala741=)
c.1305A>C (p.Ala435=)
n.2856A>C
 ClinVar
13g.51950101G>ACA388034660ATP7Bc.*469C>T (n.*469C>T)
c.*1380C>T (n.*1380C>T)
c.2150C>T (p.Ala717Val)
c.2636C>T (p.Ala879Val)
c.2303C>T (p.Ala768Val)
c.2384C>T (p.Ala795Val)
c.2402C>T (p.Ala801Val)
c.1706C>T (p.Ala569Val)
c.1346C>T (p.Ala449Val)
c.597C>T
n.3434C>T
n.1981C>T
c.2492C>T (p.Ala831Val)
n.212-3623C>T
c.2540C>T (p.Ala847Val)
c.2600C>T (p.Ala867Val)
c.452C>T (p.Ala151Val)
c.2222C>T (p.Ala741Val)
c.1304C>T (p.Ala435Val)
n.2855C>T
 gnomAD v4
13g.51950101G>CCA388034677ATP7Bc.*469C>G (n.*469C>G)
c.*1380C>G (n.*1380C>G)
c.2150C>G (p.Ala717Gly)
c.2636C>G (p.Ala879Gly)
c.2303C>G (p.Ala768Gly)
c.2384C>G (p.Ala795Gly)
c.2402C>G (p.Ala801Gly)
c.1706C>G (p.Ala569Gly)
c.1346C>G (p.Ala449Gly)
c.597C>G
n.3434C>G
n.1981C>G
c.2492C>G (p.Ala831Gly)
n.212-3623C>G
c.2540C>G (p.Ala847Gly)
c.2600C>G (p.Ala867Gly)
c.452C>G (p.Ala151Gly)
c.2222C>G (p.Ala741Gly)
c.1304C>G (p.Ala435Gly)
n.2855C>G
 gnomAD v4
13g.51950101G>TCA388034679ATP7Bc.*469C>A (n.*469C>A)
c.*1380C>A (n.*1380C>A)
c.2150C>A (p.Ala717Glu)
c.2636C>A (p.Ala879Glu)
c.2303C>A (p.Ala768Glu)
c.2384C>A (p.Ala795Glu)
c.2402C>A (p.Ala801Glu)
c.1706C>A (p.Ala569Glu)
c.1346C>A (p.Ala449Glu)
c.597C>A
n.3434C>A
n.1981C>A
c.2492C>A (p.Ala831Glu)
n.212-3623C>A
c.2540C>A (p.Ala847Glu)
c.2600C>A (p.Ala867Glu)
c.452C>A (p.Ala151Glu)
c.2222C>A (p.Ala741Glu)
c.1304C>A (p.Ala435Glu)
n.2855C>A
13g.51950102C>ACA388034684ATP7Bc.*468G>T (n.*468G>T)
c.*1379G>T (n.*1379G>T)
c.2149G>T (p.Ala717Ser)
c.2635G>T (p.Ala879Ser)
c.2302G>T (p.Ala768Ser)
c.2383G>T (p.Ala795Ser)
c.2401G>T (p.Ala801Ser)
c.1705G>T (p.Ala569Ser)
c.1345G>T (p.Ala449Ser)
c.596G>T
n.3433G>T
n.1980G>T
c.2491G>T (p.Ala831Ser)
n.212-3624G>T
c.2539G>T (p.Ala847Ser)
c.2599G>T (p.Ala867Ser)
c.451G>T (p.Ala151Ser)
c.2221G>T (p.Ala741Ser)
c.1303G>T (p.Ala435Ser)
n.2854G>T
13g.51950102C>GCA388034690ATP7Bc.*468G>C (n.*468G>C)
c.*1379G>C (n.*1379G>C)
c.2149G>C (p.Ala717Pro)
c.2635G>C (p.Ala879Pro)
c.2302G>C (p.Ala768Pro)
c.2383G>C (p.Ala795Pro)
c.2401G>C (p.Ala801Pro)
c.1705G>C (p.Ala569Pro)
c.1345G>C (p.Ala449Pro)
c.596G>C
n.3433G>C
n.1980G>C
c.2491G>C (p.Ala831Pro)
n.212-3624G>C
c.2539G>C (p.Ala847Pro)
c.2599G>C (p.Ala867Pro)
c.451G>C (p.Ala151Pro)
c.2221G>C (p.Ala741Pro)
c.1303G>C (p.Ala435Pro)
n.2854G>C
13g.51950102C>TCA388034702ATP7Bc.*468G>A (n.*468G>A)
c.*1379G>A (n.*1379G>A)
c.2149G>A (p.Ala717Thr)
c.2635G>A (p.Ala879Thr)
c.2302G>A (p.Ala768Thr)
c.2383G>A (p.Ala795Thr)
c.2401G>A (p.Ala801Thr)
c.1705G>A (p.Ala569Thr)
c.1345G>A (p.Ala449Thr)
c.596G>A
n.3433G>A
n.1980G>A
c.2491G>A (p.Ala831Thr)
n.212-3624G>A
c.2539G>A (p.Ala847Thr)
c.2599G>A (p.Ala867Thr)
c.451G>A (p.Ala151Thr)
c.2221G>A (p.Ala741Thr)
c.1303G>A (p.Ala435Thr)
n.2854G>A
13g.51950103A>CCA388034710ATP7Bc.*467T>G (n.*467T>G)
c.*1378T>G (n.*1378T>G)
c.2148T>G (p.Asn716Lys)
c.2634T>G (p.Asn878Lys)
c.2301T>G (p.Asn767Lys)
c.2382T>G (p.Asn794Lys)
c.2400T>G (p.Asn800Lys)
c.1704T>G (p.Asn568Lys)
c.1344T>G (p.Asn448Lys)
c.595T>G
n.3432T>G
n.1979T>G
c.2490T>G (p.Asn830Lys)
n.212-3625T>G
c.2538T>G (p.Asn846Lys)
c.2598T>G (p.Asn866Lys)
c.450T>G (p.Asn150Lys)
c.2220T>G (p.Asn740Lys)
c.1302T>G (p.Asn434Lys)
n.2853T>G
 ClinVar
13g.51950103A>GCA484024416ATP7Bc.*467T>C (n.*467T>C)
c.*1378T>C (n.*1378T>C)
c.2148T>C (p.Asn716=)
c.2634T>C (p.Asn878=)
c.2301T>C (p.Asn767=)
c.2382T>C (p.Asn794=)
c.2400T>C (p.Asn800=)
c.1704T>C (p.Asn568=)
c.1344T>C (p.Asn448=)
c.595T>C
n.3432T>C
n.1979T>C
c.2490T>C (p.Asn830=)
n.212-3625T>C
c.2538T>C (p.Asn846=)
c.2598T>C (p.Asn866=)
c.450T>C (p.Asn150=)
c.2220T>C (p.Asn740=)
c.1302T>C (p.Asn434=)
n.2853T>C
13g.51950103A>TCA388034704ATP7Bc.*467T>A (n.*467T>A)
c.*1378T>A (n.*1378T>A)
c.2148T>A (p.Asn716Lys)
c.2634T>A (p.Asn878Lys)
c.2301T>A (p.Asn767Lys)
c.2382T>A (p.Asn794Lys)
c.2400T>A (p.Asn800Lys)
c.1704T>A (p.Asn568Lys)
c.1344T>A (p.Asn448Lys)
c.595T>A
n.3432T>A
n.1979T>A
c.2490T>A (p.Asn830Lys)
n.212-3625T>A
c.2538T>A (p.Asn846Lys)
c.2598T>A (p.Asn866Lys)
c.450T>A (p.Asn150Lys)
c.2220T>A (p.Asn740Lys)
c.1302T>A (p.Asn434Lys)
n.2853T>A
13g.51950104T>ACA388034713ATP7Bc.*466A>T (n.*466A>T)
c.*1377A>T (n.*1377A>T)
c.2147A>T (p.Asn716Ile)
c.2633A>T (p.Asn878Ile)
c.2300A>T (p.Asn767Ile)
c.2381A>T (p.Asn794Ile)
c.2399A>T (p.Asn800Ile)
c.1703A>T (p.Asn568Ile)
c.1343A>T (p.Asn448Ile)
c.594A>T
n.3431A>T
n.1978A>T
c.2489A>T (p.Asn830Ile)
n.212-3626A>T
c.2537A>T (p.Asn846Ile)
c.2597A>T (p.Asn866Ile)
c.449A>T (p.Asn150Ile)
c.2219A>T (p.Asn740Ile)
c.1301A>T (p.Asn434Ile)
n.2852A>T
 gnomAD v4
13g.51950104T>CCA388034716ATP7Bc.*466A>G (n.*466A>G)
c.*1377A>G (n.*1377A>G)
c.2147A>G (p.Asn716Ser)
c.2633A>G (p.Asn878Ser)
c.2300A>G (p.Asn767Ser)
c.2381A>G (p.Asn794Ser)
c.2399A>G (p.Asn800Ser)
c.1703A>G (p.Asn568Ser)
c.1343A>G (p.Asn448Ser)
c.594A>G
n.3431A>G
n.1978A>G
c.2489A>G (p.Asn830Ser)
n.212-3626A>G
c.2537A>G (p.Asn846Ser)
c.2597A>G (p.Asn866Ser)
c.449A>G (p.Asn150Ser)
c.2219A>G (p.Asn740Ser)
c.1301A>G (p.Asn434Ser)
n.2852A>G
13g.51950104T>GCA388034717ATP7Bc.*466A>C (n.*466A>C)
c.*1377A>C (n.*1377A>C)
c.2147A>C (p.Asn716Thr)
c.2633A>C (p.Asn878Thr)
c.2300A>C (p.Asn767Thr)
c.2381A>C (p.Asn794Thr)
c.2399A>C (p.Asn800Thr)
c.1703A>C (p.Asn568Thr)
c.1343A>C (p.Asn448Thr)
c.594A>C
n.3431A>C
n.1978A>C
c.2489A>C (p.Asn830Thr)
n.212-3626A>C
c.2537A>C (p.Asn846Thr)
c.2597A>C (p.Asn866Thr)
c.449A>C (p.Asn150Thr)
c.2219A>C (p.Asn740Thr)
c.1301A>C (p.Asn434Thr)
n.2852A>C
13g.51950105T>ACA388034718ATP7Bc.*465A>T (n.*465A>T)
c.*1376A>T (n.*1376A>T)
c.2146A>T (p.Asn716Tyr)
c.2632A>T (p.Asn878Tyr)
c.2299A>T (p.Asn767Tyr)
c.2380A>T (p.Asn794Tyr)
c.2398A>T (p.Asn800Tyr)
c.1702A>T (p.Asn568Tyr)
c.1342A>T (p.Asn448Tyr)
c.593A>T
n.3430A>T
n.1977A>T
c.2488A>T (p.Asn830Tyr)
n.212-3627A>T
c.2536A>T (p.Asn846Tyr)
c.2596A>T (p.Asn866Tyr)
c.448A>T (p.Asn150Tyr)
c.2218A>T (p.Asn740Tyr)
c.1300A>T (p.Asn434Tyr)
n.2851A>T
13g.51950105T>CCA388034721ATP7Bc.*465A>G (n.*465A>G)
c.*1376A>G (n.*1376A>G)
c.2146A>G (p.Asn716Asp)
c.2632A>G (p.Asn878Asp)
c.2299A>G (p.Asn767Asp)
c.2380A>G (p.Asn794Asp)
c.2398A>G (p.Asn800Asp)
c.1702A>G (p.Asn568Asp)
c.1342A>G (p.Asn448Asp)
c.593A>G
n.3430A>G
n.1977A>G
c.2488A>G (p.Asn830Asp)
n.212-3627A>G
c.2536A>G (p.Asn846Asp)
c.2596A>G (p.Asn866Asp)
c.448A>G (p.Asn150Asp)
c.2218A>G (p.Asn740Asp)
c.1300A>G (p.Asn434Asp)
n.2851A>G
13g.51950105T>GCA388034723ATP7Bc.*465A>C (n.*465A>C)
c.*1376A>C (n.*1376A>C)
c.2146A>C (p.Asn716His)
c.2632A>C (p.Asn878His)
c.2299A>C (p.Asn767His)
c.2380A>C (p.Asn794His)
c.2398A>C (p.Asn800His)
c.1702A>C (p.Asn568His)
c.1342A>C (p.Asn448His)
c.593A>C
n.3430A>C
n.1977A>C
c.2488A>C (p.Asn830His)
n.212-3627A>C
c.2536A>C (p.Asn846His)
c.2596A>C (p.Asn866His)
c.448A>C (p.Asn150His)
c.2218A>C (p.Asn740His)
c.1300A>C (p.Asn434His)
n.2851A>C
13g.51950106T>ACA484024417ATP7Bc.*464A>T (n.*464A>T)
c.*1375A>T (n.*1375A>T)
c.2145A>T (p.Ile715=)
c.2631A>T (p.Ile877=)
c.2298A>T (p.Ile766=)
c.2379A>T (p.Ile793=)
c.2397A>T (p.Ile799=)
c.1701A>T (p.Ile567=)
c.1341A>T (p.Ile447=)
c.592A>T
n.3429A>T
n.1976A>T
c.2487A>T (p.Ile829=)
n.212-3628A>T
c.2535A>T (p.Ile845=)
c.2595A>T (p.Ile865=)
c.447A>T (p.Ile149=)
c.2217A>T (p.Ile739=)
c.1299A>T (p.Ile433=)
n.2850A>T
13g.51950106T>CCA388034724ATP7Bc.*464A>G (n.*464A>G)
c.*1375A>G (n.*1375A>G)
c.2145A>G (p.Ile715Met)
c.2631A>G (p.Ile877Met)
c.2298A>G (p.Ile766Met)
c.2379A>G (p.Ile793Met)
c.2397A>G (p.Ile799Met)
c.1701A>G (p.Ile567Met)
c.1341A>G (p.Ile447Met)
c.592A>G
n.3429A>G
n.1976A>G
c.2487A>G (p.Ile829Met)
n.212-3628A>G
c.2535A>G (p.Ile845Met)
c.2595A>G (p.Ile865Met)
c.447A>G (p.Ile149Met)
c.2217A>G (p.Ile739Met)
c.1299A>G (p.Ile433Met)
n.2850A>G
 gnomAD v4
13g.51950106T>GCA484024418ATP7Bc.*464A>C (n.*464A>C)
c.*1375A>C (n.*1375A>C)
c.2145A>C (p.Ile715=)
c.2631A>C (p.Ile877=)
c.2298A>C (p.Ile766=)
c.2379A>C (p.Ile793=)
c.2397A>C (p.Ile799=)
c.1701A>C (p.Ile567=)
c.1341A>C (p.Ile447=)
c.592A>C
n.3429A>C
n.1976A>C
c.2487A>C (p.Ile829=)
n.212-3628A>C
c.2535A>C (p.Ile845=)
c.2595A>C (p.Ile865=)
c.447A>C (p.Ile149=)
c.2217A>C (p.Ile739=)
c.1299A>C (p.Ile433=)
n.2850A>C
13g.51950107A>CCA388034727ATP7Bc.*463T>G (n.*463T>G)
c.*1374T>G (n.*1374T>G)
c.2144T>G (p.Ile715Arg)
c.2630T>G (p.Ile877Arg)
c.2297T>G (p.Ile766Arg)
c.2378T>G (p.Ile793Arg)
c.2396T>G (p.Ile799Arg)
c.1700T>G (p.Ile567Arg)
c.1340T>G (p.Ile447Arg)
c.591T>G
n.3428T>G
n.1975T>G
c.2486T>G (p.Ile829Arg)
n.212-3629T>G
c.2534T>G (p.Ile845Arg)
c.2594T>G (p.Ile865Arg)
c.446T>G (p.Ile149Arg)
c.2216T>G (p.Ile739Arg)
c.1298T>G (p.Ile433Arg)
n.2849T>G
13g.51950107A>GCA388034729ATP7Bc.*463T>C (n.*463T>C)
c.*1374T>C (n.*1374T>C)
c.2144T>C (p.Ile715Thr)
c.2630T>C (p.Ile877Thr)
c.2297T>C (p.Ile766Thr)
c.2378T>C (p.Ile793Thr)
c.2396T>C (p.Ile799Thr)
c.1700T>C (p.Ile567Thr)
c.1340T>C (p.Ile447Thr)
c.591T>C
n.3428T>C
n.1975T>C
c.2486T>C (p.Ile829Thr)
n.212-3629T>C
c.2534T>C (p.Ile845Thr)
c.2594T>C (p.Ile865Thr)
c.446T>C (p.Ile149Thr)
c.2216T>C (p.Ile739Thr)
c.1298T>C (p.Ile433Thr)
n.2849T>C
13g.51950107A>TCA388034737ATP7Bc.*463T>A (n.*463T>A)
c.*1374T>A (n.*1374T>A)
c.2144T>A (p.Ile715Lys)
c.2630T>A (p.Ile877Lys)
c.2297T>A (p.Ile766Lys)
c.2378T>A (p.Ile793Lys)
c.2396T>A (p.Ile799Lys)
c.1700T>A (p.Ile567Lys)
c.1340T>A (p.Ile447Lys)
c.591T>A
n.3428T>A
n.1975T>A
c.2486T>A (p.Ile829Lys)
n.212-3629T>A
c.2534T>A (p.Ile845Lys)
c.2594T>A (p.Ile865Lys)
c.446T>A (p.Ile149Lys)
c.2216T>A (p.Ile739Lys)
c.1298T>A (p.Ile433Lys)
n.2849T>A
13g.51950108T>ACA388034739ATP7Bc.*462A>T (n.*462A>T)
c.*1373A>T (n.*1373A>T)
c.2143A>T (p.Ile715Leu)
c.2629A>T (p.Ile877Leu)
c.2296A>T (p.Ile766Leu)
c.2377A>T (p.Ile793Leu)
c.2395A>T (p.Ile799Leu)
c.1699A>T (p.Ile567Leu)
c.1339A>T (p.Ile447Leu)
c.590A>T
n.3427A>T
n.1974A>T
c.2485A>T (p.Ile829Leu)
n.212-3630A>T
c.2533A>T (p.Ile845Leu)
c.2593A>T (p.Ile865Leu)
c.445A>T (p.Ile149Leu)
c.2215A>T (p.Ile739Leu)
c.1297A>T (p.Ile433Leu)
n.2848A>T
13g.51950108T>CCA6988944ATP7Bc.*462A>G (n.*462A>G)
c.*1373A>G (n.*1373A>G)
c.2143A>G (p.Ile715Val)
c.2629A>G (p.Ile877Val)
c.2296A>G (p.Ile766Val)
c.2377A>G (p.Ile793Val)
c.2395A>G (p.Ile799Val)
c.1699A>G (p.Ile567Val)
c.1339A>G (p.Ile447Val)
c.590A>G
n.3427A>G
n.1974A>G
c.2485A>G (p.Ile829Val)
n.212-3630A>G
c.2533A>G (p.Ile845Val)
c.2593A>G (p.Ile865Val)
c.445A>G (p.Ile149Val)
c.2215A>G (p.Ile739Val)
c.1297A>G (p.Ile433Val)
n.2848A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950108T>GCA388034743ATP7Bc.*462A>C (n.*462A>C)
c.*1373A>C (n.*1373A>C)
c.2143A>C (p.Ile715Leu)
c.2629A>C (p.Ile877Leu)
c.2296A>C (p.Ile766Leu)
c.2377A>C (p.Ile793Leu)
c.2395A>C (p.Ile799Leu)
c.1699A>C (p.Ile567Leu)
c.1339A>C (p.Ile447Leu)
c.590A>C
n.3427A>C
n.1974A>C
c.2485A>C (p.Ile829Leu)
n.212-3630A>C
c.2533A>C (p.Ile845Leu)
c.2593A>C (p.Ile865Leu)
c.445A>C (p.Ile149Leu)
c.2215A>C (p.Ile739Leu)
c.1297A>C (p.Ile433Leu)
n.2848A>C
13g.51950108T=CA2091541979ATP7Bc.*462A= (n.*462A=)
c.*1373A= (n.*1373A=)
c.2143A= (p.Ile715=)
c.2629A= (p.Ile877=)
c.2296A= (p.Ile766=)
c.2377A= (p.Ile793=)
c.2395A= (p.Ile799=)
c.1699A= (p.Ile567=)
c.1339A= (p.Ile447=)
c.590A=
n.3427A=
n.1974A=
c.2485A= (p.Ile829=)
n.212-3630A=
c.2533A= (p.Ile845=)
c.2593A= (p.Ile865=)
c.445A= (p.Ile149=)
c.2215A= (p.Ile739=)
c.1297A= (p.Ile433=)
n.2848A=
13g.51950109A>CCA484024419ATP7Bc.*461T>G (n.*461T>G)
c.*1372T>G (n.*1372T>G)
c.2142T>G (p.Ser714=)
c.2628T>G (p.Ser876=)
c.2295T>G (p.Ser765=)
c.2376T>G (p.Ser792=)
c.2394T>G (p.Ser798=)
c.1698T>G (p.Ser566=)
c.1338T>G (p.Ser446=)
c.589T>G
n.3426T>G
n.1973T>G
c.2484T>G (p.Ser828=)
n.212-3631T>G
c.2532T>G (p.Ser844=)
c.2592T>G (p.Ser864=)
c.444T>G (p.Ser148=)
c.2214T>G (p.Ser738=)
c.1296T>G (p.Ser432=)
n.2847T>G
13g.51950109A>GCA484024420ATP7Bc.*461T>C (n.*461T>C)
c.*1372T>C (n.*1372T>C)
c.2142T>C (p.Ser714=)
c.2628T>C (p.Ser876=)
c.2295T>C (p.Ser765=)
c.2376T>C (p.Ser792=)
c.2394T>C (p.Ser798=)
c.1698T>C (p.Ser566=)
c.1338T>C (p.Ser446=)
c.589T>C
n.3426T>C
n.1973T>C
c.2484T>C (p.Ser828=)
n.212-3631T>C
c.2532T>C (p.Ser844=)
c.2592T>C (p.Ser864=)
c.444T>C (p.Ser148=)
c.2214T>C (p.Ser738=)
c.1296T>C (p.Ser432=)
n.2847T>C
13g.51950109A>TCA484024421ATP7Bc.*461T>A (n.*461T>A)
c.*1372T>A (n.*1372T>A)
c.2142T>A (p.Ser714=)
c.2628T>A (p.Ser876=)
c.2295T>A (p.Ser765=)
c.2376T>A (p.Ser792=)
c.2394T>A (p.Ser798=)
c.1698T>A (p.Ser566=)
c.1338T>A (p.Ser446=)
c.589T>A
n.3426T>A
n.1973T>A
c.2484T>A (p.Ser828=)
n.212-3631T>A
c.2532T>A (p.Ser844=)
c.2592T>A (p.Ser864=)
c.444T>A (p.Ser148=)
c.2214T>A (p.Ser738=)
c.1296T>A (p.Ser432=)
n.2847T>A
13g.51950110G>ACA388034759ATP7Bc.*460C>T (n.*460C>T)
c.*1371C>T (n.*1371C>T)
c.2141C>T (p.Ser714Phe)
c.2627C>T (p.Ser876Phe)
c.2294C>T (p.Ser765Phe)
c.2375C>T (p.Ser792Phe)
c.2393C>T (p.Ser798Phe)
c.1697C>T (p.Ser566Phe)
c.1337C>T (p.Ser446Phe)
c.588C>T
n.3425C>T
n.1972C>T
c.2483C>T (p.Ser828Phe)
n.212-3632C>T
c.2531C>T (p.Ser844Phe)
c.2591C>T (p.Ser864Phe)
c.443C>T (p.Ser148Phe)
c.2213C>T (p.Ser738Phe)
c.1295C>T (p.Ser432Phe)
n.2846C>T
 gnomAD v4
13g.51950110G>CCA6988945ATP7Bc.*460C>G (n.*460C>G)
c.*1371C>G (n.*1371C>G)
c.2141C>G (p.Ser714Cys)
c.2627C>G (p.Ser876Cys)
c.2294C>G (p.Ser765Cys)
c.2375C>G (p.Ser792Cys)
c.2393C>G (p.Ser798Cys)
c.1697C>G (p.Ser566Cys)
c.1337C>G (p.Ser446Cys)
c.588C>G
n.3425C>G
n.1972C>G
c.2483C>G (p.Ser828Cys)
n.212-3632C>G
c.2531C>G (p.Ser844Cys)
c.2591C>G (p.Ser864Cys)
c.443C>G (p.Ser148Cys)
c.2213C>G (p.Ser738Cys)
c.1295C>G (p.Ser432Cys)
n.2846C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950110G=CA2091541982ATP7Bc.*460C= (n.*460C=)
c.*1371C= (n.*1371C=)
c.2141C= (p.Ser714=)
c.2627C= (p.Ser876=)
c.2294C= (p.Ser765=)
c.2375C= (p.Ser792=)
c.2393C= (p.Ser798=)
c.1697C= (p.Ser566=)
c.1337C= (p.Ser446=)
c.588C=
n.3425C=
n.1972C=
c.2483C= (p.Ser828=)
n.212-3632C=
c.2531C= (p.Ser844=)
c.2591C= (p.Ser864=)
c.443C= (p.Ser148=)
c.2213C= (p.Ser738=)
c.1295C= (p.Ser432=)
n.2846C=
13g.51950110G>TCA388034755ATP7Bc.*460C>A (n.*460C>A)
c.*1371C>A (n.*1371C>A)
c.2141C>A (p.Ser714Tyr)
c.2627C>A (p.Ser876Tyr)
c.2294C>A (p.Ser765Tyr)
c.2375C>A (p.Ser792Tyr)
c.2393C>A (p.Ser798Tyr)
c.1697C>A (p.Ser566Tyr)
c.1337C>A (p.Ser446Tyr)
c.588C>A
n.3425C>A
n.1972C>A
c.2483C>A (p.Ser828Tyr)
n.212-3632C>A
c.2531C>A (p.Ser844Tyr)
c.2591C>A (p.Ser864Tyr)
c.443C>A (p.Ser148Tyr)
c.2213C>A (p.Ser738Tyr)
c.1295C>A (p.Ser432Tyr)
n.2846C>A
13g.51950111A>CCA388034762ATP7Bc.*459T>G (n.*459T>G)
c.*1370T>G (n.*1370T>G)
c.2140T>G (p.Ser714Ala)
c.2626T>G (p.Ser876Ala)
c.2293T>G (p.Ser765Ala)
c.2374T>G (p.Ser792Ala)
c.2392T>G (p.Ser798Ala)
c.1696T>G (p.Ser566Ala)
c.1336T>G (p.Ser446Ala)
c.587T>G
n.3424T>G
n.1971T>G
c.2482T>G (p.Ser828Ala)
n.212-3633T>G
c.2530T>G (p.Ser844Ala)
c.2590T>G (p.Ser864Ala)
c.442T>G (p.Ser148Ala)
c.2212T>G (p.Ser738Ala)
c.1294T>G (p.Ser432Ala)
n.2845T>G
13g.51950111A>GCA388034764ATP7Bc.*459T>C (n.*459T>C)
c.*1370T>C (n.*1370T>C)
c.2140T>C (p.Ser714Pro)
c.2626T>C (p.Ser876Pro)
c.2293T>C (p.Ser765Pro)
c.2374T>C (p.Ser792Pro)
c.2392T>C (p.Ser798Pro)
c.1696T>C (p.Ser566Pro)
c.1336T>C (p.Ser446Pro)
c.587T>C
n.3424T>C
n.1971T>C
c.2482T>C (p.Ser828Pro)
n.212-3633T>C
c.2530T>C (p.Ser844Pro)
c.2590T>C (p.Ser864Pro)
c.442T>C (p.Ser148Pro)
c.2212T>C (p.Ser738Pro)
c.1294T>C (p.Ser432Pro)
n.2845T>C
13g.51950111A>TCA388034765ATP7Bc.*459T>A (n.*459T>A)
c.*1370T>A (n.*1370T>A)
c.2140T>A (p.Ser714Thr)
c.2626T>A (p.Ser876Thr)
c.2293T>A (p.Ser765Thr)
c.2374T>A (p.Ser792Thr)
c.2392T>A (p.Ser798Thr)
c.1696T>A (p.Ser566Thr)
c.1336T>A (p.Ser446Thr)
c.587T>A
n.3424T>A
n.1971T>A
c.2482T>A (p.Ser828Thr)
n.212-3633T>A
c.2530T>A (p.Ser844Thr)
c.2590T>A (p.Ser864Thr)
c.442T>A (p.Ser148Thr)
c.2212T>A (p.Ser738Thr)
c.1294T>A (p.Ser432Thr)
n.2845T>A
13g.51950112C>ACA484024422ATP7Bc.*458G>T (n.*458G>T)
c.*1369G>T (n.*1369G>T)
c.2139G>T (p.Gly713=)
c.2625G>T (p.Gly875=)
c.2292G>T (p.Gly764=)
c.2373G>T (p.Gly791=)
c.2391G>T (p.Gly797=)
c.1695G>T (p.Gly565=)
c.1335G>T (p.Gly445=)
c.586G>T
n.3423G>T
n.1970G>T
c.2481G>T (p.Gly827=)
n.212-3634G>T
c.2529G>T (p.Gly843=)
c.2589G>T (p.Gly863=)
c.441G>T (p.Gly147=)
c.2211G>T (p.Gly737=)
c.1293G>T (p.Gly431=)
n.2844G>T
 dbSNP gnomAD v2 gnomAD v4
13g.51950112C=CA2091541988ATP7Bc.*458G= (n.*458G=)
c.*1369G= (n.*1369G=)
c.2139G= (p.Gly713=)
c.2625G= (p.Gly875=)
c.2292G= (p.Gly764=)
c.2373G= (p.Gly791=)
c.2391G= (p.Gly797=)
c.1695G= (p.Gly565=)
c.1335G= (p.Gly445=)
c.586G=
n.3423G=
n.1970G=
c.2481G= (p.Gly827=)
n.212-3634G=
c.2529G= (p.Gly843=)
c.2589G= (p.Gly863=)
c.441G= (p.Gly147=)
c.2211G= (p.Gly737=)
c.1293G= (p.Gly431=)
n.2844G=
13g.51950112C>GCA484024423ATP7Bc.*458G>C (n.*458G>C)
c.*1369G>C (n.*1369G>C)
c.2139G>C (p.Gly713=)
c.2625G>C (p.Gly875=)
c.2292G>C (p.Gly764=)
c.2373G>C (p.Gly791=)
c.2391G>C (p.Gly797=)
c.1695G>C (p.Gly565=)
c.1335G>C (p.Gly445=)
c.586G>C
n.3423G>C
n.1970G>C
c.2481G>C (p.Gly827=)
n.212-3634G>C
c.2529G>C (p.Gly843=)
c.2589G>C (p.Gly863=)
c.441G>C (p.Gly147=)
c.2211G>C (p.Gly737=)
c.1293G>C (p.Gly431=)
n.2844G>C
13g.51950112C>TCA250085245ATP7Bc.*458G>A (n.*458G>A)
c.*1369G>A (n.*1369G>A)
c.2139G>A (p.Gly713=)
c.2625G>A (p.Gly875=)
c.2292G>A (p.Gly764=)
c.2373G>A (p.Gly791=)
c.2391G>A (p.Gly797=)
c.1695G>A (p.Gly565=)
c.1335G>A (p.Gly445=)
c.586G>A
n.3423G>A
n.1970G>A
c.2481G>A (p.Gly827=)
n.212-3634G>A
c.2529G>A (p.Gly843=)
c.2589G>A (p.Gly863=)
c.441G>A (p.Gly147=)
c.2211G>A (p.Gly737=)
c.1293G>A (p.Gly431=)
n.2844G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950113C>ACA388034766ATP7Bc.*457G>T (n.*457G>T)
c.*1368G>T (n.*1368G>T)
c.2138G>T (p.Gly713Val)
c.2624G>T (p.Gly875Val)
c.2291G>T (p.Gly764Val)
c.2372G>T (p.Gly791Val)
c.2390G>T (p.Gly797Val)
c.1694G>T (p.Gly565Val)
c.1334G>T (p.Gly445Val)
c.585G>T
n.3422G>T
n.1969G>T
c.2480G>T (p.Gly827Val)
n.212-3635G>T
c.2528G>T (p.Gly843Val)
c.2588G>T (p.Gly863Val)
c.440G>T (p.Gly147Val)
c.2210G>T (p.Gly737Val)
c.1292G>T (p.Gly431Val)
n.2843G>T
13g.51950113C>GCA388034768ATP7Bc.*457G>C (n.*457G>C)
c.*1368G>C (n.*1368G>C)
c.2138G>C (p.Gly713Ala)
c.2624G>C (p.Gly875Ala)
c.2291G>C (p.Gly764Ala)
c.2372G>C (p.Gly791Ala)
c.2390G>C (p.Gly797Ala)
c.1694G>C (p.Gly565Ala)
c.1334G>C (p.Gly445Ala)
c.585G>C
n.3422G>C
n.1969G>C
c.2480G>C (p.Gly827Ala)
n.212-3635G>C
c.2528G>C (p.Gly843Ala)
c.2588G>C (p.Gly863Ala)
c.440G>C (p.Gly147Ala)
c.2210G>C (p.Gly737Ala)
c.1292G>C (p.Gly431Ala)
n.2843G>C
13g.51950113C>TCA388034769ATP7Bc.*457G>A (n.*457G>A)
c.*1368G>A (n.*1368G>A)
c.2138G>A (p.Gly713Glu)
c.2624G>A (p.Gly875Glu)
c.2291G>A (p.Gly764Glu)
c.2372G>A (p.Gly791Glu)
c.2390G>A (p.Gly797Glu)
c.1694G>A (p.Gly565Glu)
c.1334G>A (p.Gly445Glu)
c.585G>A
n.3422G>A
n.1969G>A
c.2480G>A (p.Gly827Glu)
n.212-3635G>A
c.2528G>A (p.Gly843Glu)
c.2588G>A (p.Gly863Glu)
c.440G>A (p.Gly147Glu)
c.2210G>A (p.Gly737Glu)
c.1292G>A (p.Gly431Glu)
n.2843G>A
13g.51950114C>ACA388034770ATP7Bc.*456G>T (n.*456G>T)
c.*1367G>T (n.*1367G>T)
c.2137G>T (p.Gly713Trp)
c.2623G>T (p.Gly875Trp)
c.2290G>T (p.Gly764Trp)
c.2371G>T (p.Gly791Trp)
c.2389G>T (p.Gly797Trp)
c.1693G>T (p.Gly565Trp)
c.1333G>T (p.Gly445Trp)
c.584G>T
n.3421G>T
n.1968G>T
c.2479G>T (p.Gly827Trp)
n.212-3636G>T
c.2527G>T (p.Gly843Trp)
c.2587G>T (p.Gly863Trp)
c.439G>T (p.Gly147Trp)
c.2209G>T (p.Gly737Trp)
c.1291G>T (p.Gly431Trp)
n.2842G>T
13g.51950114C=CA2091541992ATP7Bc.*456G= (n.*456G=)
c.*1367G= (n.*1367G=)
c.2137G= (p.Gly713=)
c.2623G= (p.Gly875=)
c.2290G= (p.Gly764=)
c.2371G= (p.Gly791=)
c.2389G= (p.Gly797=)
c.1693G= (p.Gly565=)
c.1333G= (p.Gly445=)
c.584G=
n.3421G=
n.1968G=
c.2479G= (p.Gly827=)
n.212-3636G=
c.2527G= (p.Gly843=)
c.2587G= (p.Gly863=)
c.439G= (p.Gly147=)
c.2209G= (p.Gly737=)
c.1291G= (p.Gly431=)
n.2842G=
13g.51950114C>GCA388034772ATP7Bc.*456G>C (n.*456G>C)
c.*1367G>C (n.*1367G>C)
c.2137G>C (p.Gly713Arg)
c.2623G>C (p.Gly875Arg)
c.2290G>C (p.Gly764Arg)
c.2371G>C (p.Gly791Arg)
c.2389G>C (p.Gly797Arg)
c.1693G>C (p.Gly565Arg)
c.1333G>C (p.Gly445Arg)
c.584G>C
n.3421G>C
n.1968G>C
c.2479G>C (p.Gly827Arg)
n.212-3636G>C
c.2527G>C (p.Gly843Arg)
c.2587G>C (p.Gly863Arg)
c.439G>C (p.Gly147Arg)
c.2209G>C (p.Gly737Arg)
c.1291G>C (p.Gly431Arg)
n.2842G>C
13g.51950114C>TCA171302ATP7Bc.*456G>A (n.*456G>A)
c.*1367G>A (n.*1367G>A)
c.2137G>A (p.Gly713Arg)
c.2623G>A (p.Gly875Arg)
c.2290G>A (p.Gly764Arg)
c.2371G>A (p.Gly791Arg)
c.2389G>A (p.Gly797Arg)
c.1693G>A (p.Gly565Arg)
c.1333G>A (p.Gly445Arg)
c.584G>A
n.3421G>A
n.1968G>A
c.2479G>A (p.Gly827Arg)
n.212-3636G>A
c.2527G>A (p.Gly843Arg)
c.2587G>A (p.Gly863Arg)
c.439G>A (p.Gly147Arg)
c.2209G>A (p.Gly737Arg)
c.1291G>A (p.Gly431Arg)
n.2842G>A
 ClinVar dbSNP
13g.51950115C>ACA484024425ATP7Bc.*455G>T (n.*455G>T)
c.*1366G>T (n.*1366G>T)
c.2136G>T (p.Ala712=)
c.2622G>T (p.Ala874=)
c.2289G>T (p.Ala763=)
c.2370G>T (p.Ala790=)
c.2388G>T (p.Ala796=)
c.1692G>T (p.Ala564=)
c.1332G>T (p.Ala444=)
c.583G>T
n.3420G>T
n.1967G>T
c.2478G>T (p.Ala826=)
n.212-3637G>T
c.2526G>T (p.Ala842=)
c.2586G>T (p.Ala862=)
c.438G>T (p.Ala146=)
c.2208G>T (p.Ala736=)
c.1290G>T (p.Ala430=)
n.2841G>T
13g.51950115C=CA2091542001ATP7Bc.*455G= (n.*455G=)
c.*1366G= (n.*1366G=)
c.2136G= (p.Ala712=)
c.2622G= (p.Ala874=)
c.2289G= (p.Ala763=)
c.2370G= (p.Ala790=)
c.2388G= (p.Ala796=)
c.1692G= (p.Ala564=)
c.1332G= (p.Ala444=)
c.583G=
n.3420G=
n.1967G=
c.2478G= (p.Ala826=)
n.212-3637G=
c.2526G= (p.Ala842=)
c.2586G= (p.Ala862=)
c.438G= (p.Ala146=)
c.2208G= (p.Ala736=)
c.1290G= (p.Ala430=)
n.2841G=
13g.51950115C>GCA484024424ATP7Bc.*455G>C (n.*455G>C)
c.*1366G>C (n.*1366G>C)
c.2136G>C (p.Ala712=)
c.2622G>C (p.Ala874=)
c.2289G>C (p.Ala763=)
c.2370G>C (p.Ala790=)
c.2388G>C (p.Ala796=)
c.1692G>C (p.Ala564=)
c.1332G>C (p.Ala444=)
c.583G>C
n.3420G>C
n.1967G>C
c.2478G>C (p.Ala826=)
n.212-3637G>C
c.2526G>C (p.Ala842=)
c.2586G>C (p.Ala862=)
c.438G>C (p.Ala146=)
c.2208G>C (p.Ala736=)
c.1290G>C (p.Ala430=)
n.2841G>C
 dbSNP gnomAD v3 gnomAD v4
13g.51950115C>TCA250085246ATP7Bc.*455G>A (n.*455G>A)
c.*1366G>A (n.*1366G>A)
c.2136G>A (p.Ala712=)
c.2622G>A (p.Ala874=)
c.2289G>A (p.Ala763=)
c.2370G>A (p.Ala790=)
c.2388G>A (p.Ala796=)
c.1692G>A (p.Ala564=)
c.1332G>A (p.Ala444=)
c.583G>A
n.3420G>A
n.1967G>A
c.2478G>A (p.Ala826=)
n.212-3637G>A
c.2526G>A (p.Ala842=)
c.2586G>A (p.Ala862=)
c.438G>A (p.Ala146=)
c.2208G>A (p.Ala736=)
c.1290G>A (p.Ala430=)
n.2841G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51950116G>ACA252892ATP7Bc.*454C>T (n.*454C>T)
c.*1365C>T (n.*1365C>T)
c.2135C>T (p.Ala712Val)
c.2621C>T (p.Ala874Val)
c.2288C>T (p.Ala763Val)
c.2369C>T (p.Ala790Val)
c.2387C>T (p.Ala796Val)
c.1691C>T (p.Ala564Val)
c.1331C>T (p.Ala444Val)
c.582C>T
n.3419C>T
n.1966C>T
c.2477C>T (p.Ala826Val)
n.212-3638C>T
c.2525C>T (p.Ala842Val)
c.2585C>T (p.Ala862Val)
c.437C>T (p.Ala146Val)
c.2207C>T (p.Ala736Val)
c.1289C>T (p.Ala430Val)
n.2840C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51950116G>CCA388034775ATP7Bc.*454C>G (n.*454C>G)
c.*1365C>G (n.*1365C>G)
c.2135C>G (p.Ala712Gly)
c.2621C>G (p.Ala874Gly)
c.2288C>G (p.Ala763Gly)
c.2369C>G (p.Ala790Gly)
c.2387C>G (p.Ala796Gly)
c.1691C>G (p.Ala564Gly)
c.1331C>G (p.Ala444Gly)
c.582C>G
n.3419C>G
n.1966C>G
c.2477C>G (p.Ala826Gly)
n.212-3638C>G
c.2525C>G (p.Ala842Gly)
c.2585C>G (p.Ala862Gly)
c.437C>G (p.Ala146Gly)
c.2207C>G (p.Ala736Gly)
c.1289C>G (p.Ala430Gly)
n.2840C>G
 ClinVar
13g.51950116G=CA2091542008ATP7Bc.*454C= (n.*454C=)
c.*1365C= (n.*1365C=)
c.2135C= (p.Ala712=)
c.2621C= (p.Ala874=)
c.2288C= (p.Ala763=)
c.2369C= (p.Ala790=)
c.2387C= (p.Ala796=)
c.1691C= (p.Ala564=)
c.1331C= (p.Ala444=)
c.582C=
n.3419C=
n.1966C=
c.2477C= (p.Ala826=)
n.212-3638C=
c.2525C= (p.Ala842=)
c.2585C= (p.Ala862=)
c.437C= (p.Ala146=)
c.2207C= (p.Ala736=)
c.1289C= (p.Ala430=)
n.2840C=
13g.51950116G>TCA388034776ATP7Bc.*454C>A (n.*454C>A)
c.*1365C>A (n.*1365C>A)
c.2135C>A (p.Ala712Glu)
c.2621C>A (p.Ala874Glu)
c.2288C>A (p.Ala763Glu)
c.2369C>A (p.Ala790Glu)
c.2387C>A (p.Ala796Glu)
c.1691C>A (p.Ala564Glu)
c.1331C>A (p.Ala444Glu)
c.582C>A
n.3419C>A
n.1966C>A
c.2477C>A (p.Ala826Glu)
n.212-3638C>A
c.2525C>A (p.Ala842Glu)
c.2585C>A (p.Ala862Glu)
c.437C>A (p.Ala146Glu)
c.2207C>A (p.Ala736Glu)
c.1289C>A (p.Ala430Glu)
n.2840C>A
 ClinVar dbSNP
13g.51950117C>ACA388034779ATP7Bc.*453G>T (n.*453G>T)
c.*1364G>T (n.*1364G>T)
c.2134G>T (p.Ala712Ser)
c.2620G>T (p.Ala874Ser)
c.2287G>T (p.Ala763Ser)
c.2368G>T (p.Ala790Ser)
c.2386G>T (p.Ala796Ser)
c.1690G>T (p.Ala564Ser)
c.1330G>T (p.Ala444Ser)
c.581G>T
n.3418G>T
n.1965G>T
c.2476G>T (p.Ala826Ser)
n.212-3639G>T
c.2524G>T (p.Ala842Ser)
c.2584G>T (p.Ala862Ser)
c.436G>T (p.Ala146Ser)
c.2206G>T (p.Ala736Ser)
c.1288G>T (p.Ala430Ser)
n.2839G>T
13g.51950117C=CA2091542020ATP7Bc.*453G= (n.*453G=)
c.*1364G= (n.*1364G=)
c.2134G= (p.Ala712=)
c.2620G= (p.Ala874=)
c.2287G= (p.Ala763=)
c.2368G= (p.Ala790=)
c.2386G= (p.Ala796=)
c.1690G= (p.Ala564=)
c.1330G= (p.Ala444=)
c.581G=
n.3418G=
n.1965G=
c.2476G= (p.Ala826=)
n.212-3639G=
c.2524G= (p.Ala842=)
c.2584G= (p.Ala862=)
c.436G= (p.Ala146=)
c.2206G= (p.Ala736=)
c.1288G= (p.Ala430=)
n.2839G=
13g.51950117C>GCA250085276ATP7Bc.*453G>C (n.*453G>C)
c.*1364G>C (n.*1364G>C)
c.2134G>C (p.Ala712Pro)
c.2620G>C (p.Ala874Pro)
c.2287G>C (p.Ala763Pro)
c.2368G>C (p.Ala790Pro)
c.2386G>C (p.Ala796Pro)
c.1690G>C (p.Ala564Pro)
c.1330G>C (p.Ala444Pro)
c.581G>C
n.3418G>C
n.1965G>C
c.2476G>C (p.Ala826Pro)
n.212-3639G>C
c.2524G>C (p.Ala842Pro)
c.2584G>C (p.Ala862Pro)
c.436G>C (p.Ala146Pro)
c.2206G>C (p.Ala736Pro)
c.1288G>C (p.Ala430Pro)
n.2839G>C
 ClinVar dbSNP gnomAD v4
13g.51950117C>TCA388034777ATP7Bc.*453G>A (n.*453G>A)
c.*1364G>A (n.*1364G>A)
c.2134G>A (p.Ala712Thr)
c.2620G>A (p.Ala874Thr)
c.2287G>A (p.Ala763Thr)
c.2368G>A (p.Ala790Thr)
c.2386G>A (p.Ala796Thr)
c.1690G>A (p.Ala564Thr)
c.1330G>A (p.Ala444Thr)
c.581G>A
n.3418G>A
n.1965G>A
c.2476G>A (p.Ala826Thr)
n.212-3639G>A
c.2524G>A (p.Ala842Thr)
c.2584G>A (p.Ala862Thr)
c.436G>A (p.Ala146Thr)
c.2206G>A (p.Ala736Thr)
c.1288G>A (p.Ala430Thr)
n.2839G>A
 gnomAD v4 COSMIC
13g.51950118A>CCA388034782ATP7Bc.*452T>G (n.*452T>G)
c.*1363T>G (n.*1363T>G)
c.2133T>G (p.Ile711Met)
c.2619T>G (p.Ile873Met)
c.2286T>G (p.Ile762Met)
c.2367T>G (p.Ile789Met)
c.2385T>G (p.Ile795Met)
c.1689T>G (p.Ile563Met)
c.1329T>G (p.Ile443Met)
c.580T>G
n.3417T>G
n.1964T>G
c.2475T>G (p.Ile825Met)
n.212-3640T>G
c.2523T>G (p.Ile841Met)
c.2583T>G (p.Ile861Met)
c.435T>G (p.Ile145Met)
c.2205T>G (p.Ile735Met)
c.1287T>G (p.Ile429Met)
n.2838T>G
13g.51950118A>GCA484024427ATP7Bc.*452T>C (n.*452T>C)
c.*1363T>C (n.*1363T>C)
c.2133T>C (p.Ile711=)
c.2619T>C (p.Ile873=)
c.2286T>C (p.Ile762=)
c.2367T>C (p.Ile789=)
c.2385T>C (p.Ile795=)
c.1689T>C (p.Ile563=)
c.1329T>C (p.Ile443=)
c.580T>C
n.3417T>C
n.1964T>C
c.2475T>C (p.Ile825=)
n.212-3640T>C
c.2523T>C (p.Ile841=)
c.2583T>C (p.Ile861=)
c.435T>C (p.Ile145=)
c.2205T>C (p.Ile735=)
c.1287T>C (p.Ile429=)
n.2838T>C
13g.51950118A>TCA484024426ATP7Bc.*452T>A (n.*452T>A)
c.*1363T>A (n.*1363T>A)
c.2133T>A (p.Ile711=)
c.2619T>A (p.Ile873=)
c.2286T>A (p.Ile762=)
c.2367T>A (p.Ile789=)
c.2385T>A (p.Ile795=)
c.1689T>A (p.Ile563=)
c.1329T>A (p.Ile443=)
c.580T>A
n.3417T>A
n.1964T>A
c.2475T>A (p.Ile825=)
n.212-3640T>A
c.2523T>A (p.Ile841=)
c.2583T>A (p.Ile861=)
c.435T>A (p.Ile145=)
c.2205T>A (p.Ile735=)
c.1287T>A (p.Ile429=)
n.2838T>A
13g.51950119A>CCA388034784ATP7Bc.*451T>G (n.*451T>G)
c.*1362T>G (n.*1362T>G)
c.2132T>G (p.Ile711Ser)
c.2618T>G (p.Ile873Ser)
c.2285T>G (p.Ile762Ser)
c.2366T>G (p.Ile789Ser)
c.2384T>G (p.Ile795Ser)
c.1688T>G (p.Ile563Ser)
c.1328T>G (p.Ile443Ser)
c.579T>G
n.3416T>G
n.1963T>G
c.2474T>G (p.Ile825Ser)
n.212-3641T>G
c.2522T>G (p.Ile841Ser)
c.2582T>G (p.Ile861Ser)
c.434T>G (p.Ile145Ser)
c.2204T>G (p.Ile735Ser)
c.1286T>G (p.Ile429Ser)
n.2837T>G
13g.51950119A>GCA388034786ATP7Bc.*451T>C (n.*451T>C)
c.*1362T>C (n.*1362T>C)
c.2132T>C (p.Ile711Thr)
c.2618T>C (p.Ile873Thr)
c.2285T>C (p.Ile762Thr)
c.2366T>C (p.Ile789Thr)
c.2384T>C (p.Ile795Thr)
c.1688T>C (p.Ile563Thr)
c.1328T>C (p.Ile443Thr)
c.579T>C
n.3416T>C
n.1963T>C
c.2474T>C (p.Ile825Thr)
n.212-3641T>C
c.2522T>C (p.Ile841Thr)
c.2582T>C (p.Ile861Thr)
c.434T>C (p.Ile145Thr)
c.2204T>C (p.Ile735Thr)
c.1286T>C (p.Ile429Thr)
n.2837T>C
13g.51950119A>TCA388034787ATP7Bc.*451T>A (n.*451T>A)
c.*1362T>A (n.*1362T>A)
c.2132T>A (p.Ile711Asn)
c.2618T>A (p.Ile873Asn)
c.2285T>A (p.Ile762Asn)
c.2366T>A (p.Ile789Asn)
c.2384T>A (p.Ile795Asn)
c.1688T>A (p.Ile563Asn)
c.1328T>A (p.Ile443Asn)
c.579T>A
n.3416T>A
n.1963T>A
c.2474T>A (p.Ile825Asn)
n.212-3641T>A
c.2522T>A (p.Ile841Asn)
c.2582T>A (p.Ile861Asn)
c.434T>A (p.Ile145Asn)
c.2204T>A (p.Ile735Asn)
c.1286T>A (p.Ile429Asn)
n.2837T>A
13g.51950120T>ACA388034792ATP7Bc.*450A>T (n.*450A>T)
c.*1361A>T (n.*1361A>T)
c.2131A>T (p.Ile711Phe)
c.2617A>T (p.Ile873Phe)
c.2284A>T (p.Ile762Phe)
c.2365A>T (p.Ile789Phe)
c.2383A>T (p.Ile795Phe)
c.1687A>T (p.Ile563Phe)
c.1327A>T (p.Ile443Phe)
c.578A>T
n.3415A>T
n.1962A>T
c.2473A>T (p.Ile825Phe)
n.212-3642A>T
c.2521A>T (p.Ile841Phe)
c.2581A>T (p.Ile861Phe)
c.433A>T (p.Ile145Phe)
c.2203A>T (p.Ile735Phe)
c.1285A>T (p.Ile429Phe)
n.2836A>T
13g.51950120T>CCA388034791ATP7Bc.*450A>G (n.*450A>G)
c.*1361A>G (n.*1361A>G)
c.2131A>G (p.Ile711Val)
c.2617A>G (p.Ile873Val)
c.2284A>G (p.Ile762Val)
c.2365A>G (p.Ile789Val)
c.2383A>G (p.Ile795Val)
c.1687A>G (p.Ile563Val)
c.1327A>G (p.Ile443Val)
c.578A>G
n.3415A>G
n.1962A>G
c.2473A>G (p.Ile825Val)
n.212-3642A>G
c.2521A>G (p.Ile841Val)
c.2581A>G (p.Ile861Val)
c.433A>G (p.Ile145Val)
c.2203A>G (p.Ile735Val)
c.1285A>G (p.Ile429Val)
n.2836A>G
 ClinVar
13g.51950120T>GCA388034789ATP7Bc.*450A>C (n.*450A>C)
c.*1361A>C (n.*1361A>C)
c.2131A>C (p.Ile711Leu)
c.2617A>C (p.Ile873Leu)
c.2284A>C (p.Ile762Leu)
c.2365A>C (p.Ile789Leu)
c.2383A>C (p.Ile795Leu)
c.1687A>C (p.Ile563Leu)
c.1327A>C (p.Ile443Leu)
c.578A>C
n.3415A>C
n.1962A>C
c.2473A>C (p.Ile825Leu)
n.212-3642A>C
c.2521A>C (p.Ile841Leu)
c.2581A>C (p.Ile861Leu)
c.433A>C (p.Ile145Leu)
c.2203A>C (p.Ile735Leu)
c.1285A>C (p.Ile429Leu)
n.2836A>C
13g.51950121T>ACA484024428ATP7Bc.*449A>T (n.*449A>T)
c.*1360A>T (n.*1360A>T)
c.2130A>T (p.Val710=)
c.2616A>T (p.Val872=)
c.2283A>T (p.Val761=)
c.2364A>T (p.Val788=)
c.2382A>T (p.Val794=)
c.1686A>T (p.Val562=)
c.1326A>T (p.Val442=)
c.577A>T
n.3414A>T
n.1961A>T
c.2472A>T (p.Val824=)
n.212-3643A>T
c.2520A>T (p.Val840=)
c.2580A>T (p.Val860=)
c.432A>T (p.Val144=)
c.2202A>T (p.Val734=)
c.1284A>T (p.Val428=)
n.2835A>T
13g.51950121T>CCA484024430ATP7Bc.*449A>G (n.*449A>G)
c.*1360A>G (n.*1360A>G)
c.2130A>G (p.Val710=)
c.2616A>G (p.Val872=)
c.2283A>G (p.Val761=)
c.2364A>G (p.Val788=)
c.2382A>G (p.Val794=)
c.1686A>G (p.Val562=)
c.1326A>G (p.Val442=)
c.577A>G
n.3414A>G
n.1961A>G
c.2472A>G (p.Val824=)
n.212-3643A>G
c.2520A>G (p.Val840=)
c.2580A>G (p.Val860=)
c.432A>G (p.Val144=)
c.2202A>G (p.Val734=)
c.1284A>G (p.Val428=)
n.2835A>G
 gnomAD v4
13g.51950121T>GCA484024429ATP7Bc.*449A>C (n.*449A>C)
c.*1360A>C (n.*1360A>C)
c.2130A>C (p.Val710=)
c.2616A>C (p.Val872=)
c.2283A>C (p.Val761=)
c.2364A>C (p.Val788=)
c.2382A>C (p.Val794=)
c.1686A>C (p.Val562=)
c.1326A>C (p.Val442=)
c.577A>C
n.3414A>C
n.1961A>C
c.2472A>C (p.Val824=)
n.212-3643A>C
c.2520A>C (p.Val840=)
c.2580A>C (p.Val860=)
c.432A>C (p.Val144=)
c.2202A>C (p.Val734=)
c.1284A>C (p.Val428=)
n.2835A>C
13g.51950122A>CCA388034794ATP7Bc.*448T>G (n.*448T>G)
c.*1359T>G (n.*1359T>G)
c.2129T>G (p.Val710Gly)
c.2615T>G (p.Val872Gly)
c.2282T>G (p.Val761Gly)
c.2363T>G (p.Val788Gly)
c.2381T>G (p.Val794Gly)
c.1685T>G (p.Val562Gly)
c.1325T>G (p.Val442Gly)
c.576T>G
n.3413T>G
n.1960T>G
c.2471T>G (p.Val824Gly)
n.212-3644T>G
c.2519T>G (p.Val840Gly)
c.2579T>G (p.Val860Gly)
c.431T>G (p.Val144Gly)
c.2201T>G (p.Val734Gly)
c.1283T>G (p.Val428Gly)
n.2834T>G
13g.51950122A>GCA388034796ATP7Bc.*448T>C (n.*448T>C)
c.*1359T>C (n.*1359T>C)
c.2129T>C (p.Val710Ala)
c.2615T>C (p.Val872Ala)
c.2282T>C (p.Val761Ala)
c.2363T>C (p.Val788Ala)
c.2381T>C (p.Val794Ala)
c.1685T>C (p.Val562Ala)
c.1325T>C (p.Val442Ala)
c.576T>C
n.3413T>C
n.1960T>C
c.2471T>C (p.Val824Ala)
n.212-3644T>C
c.2519T>C (p.Val840Ala)
c.2579T>C (p.Val860Ala)
c.431T>C (p.Val144Ala)
c.2201T>C (p.Val734Ala)
c.1283T>C (p.Val428Ala)
n.2834T>C
13g.51950122A>TCA388034797ATP7Bc.*448T>A (n.*448T>A)
c.*1359T>A (n.*1359T>A)
c.2129T>A (p.Val710Glu)
c.2615T>A (p.Val872Glu)
c.2282T>A (p.Val761Glu)
c.2363T>A (p.Val788Glu)
c.2381T>A (p.Val794Glu)
c.1685T>A (p.Val562Glu)
c.1325T>A (p.Val442Glu)
c.576T>A
n.3413T>A
n.1960T>A
c.2471T>A (p.Val824Glu)
n.212-3644T>A
c.2519T>A (p.Val840Glu)
c.2579T>A (p.Val860Glu)
c.431T>A (p.Val144Glu)
c.2201T>A (p.Val734Glu)
c.1283T>A (p.Val428Glu)
n.2834T>A
13g.51950123_51950124delCA2580087694ATP7Bc.*447_*448del (n.*447_*448del)
c.*1358_*1359del (n.*1358_*1359del)
c.2128_2129del (p.Val710AsnfsTer14)
c.2614_2615del (p.Val872AsnfsTer14)
c.2281_2282del (p.Val761AsnfsTer14)
c.2362_2363del (p.Val788AsnfsTer14)
c.2380_2381del (p.Val794AsnfsTer14)
c.1684_1685del (p.Val562AsnfsTer14)
c.1324_1325del (p.Val442AsnfsTer14)
c.575_576del
n.3412_3413del
n.1959_1960del
c.2470_2471del (p.Val824AsnfsTer14)
n.212-3645_212-3644del
c.2518_2519del (p.Val840AsnfsTer14)
c.2578_2579del (p.Val860AsnfsTer14)
c.430_431del (p.Val144AsnfsTer14)
c.2200_2201del (p.Val734AsnfsTer14)
c.1282_1283del (p.Val428AsnfsTer14)
n.2833_2834del
 ClinVar dbSNP
13g.51950123C>ACA388034799ATP7Bc.*447G>T (n.*447G>T)
c.*1358G>T (n.*1358G>T)
c.2128G>T (p.Val710Leu)
c.2614G>T (p.Val872Leu)
c.2281G>T (p.Val761Leu)
c.2362G>T (p.Val788Leu)
c.2380G>T (p.Val794Leu)
c.1684G>T (p.Val562Leu)
c.1324G>T (p.Val442Leu)
c.575G>T
n.3412G>T
n.1959G>T
c.2470G>T (p.Val824Leu)
n.212-3645G>T
c.2518G>T (p.Val840Leu)
c.2578G>T (p.Val860Leu)
c.430G>T (p.Val144Leu)
c.2200G>T (p.Val734Leu)
c.1282G>T (p.Val428Leu)
n.2833G>T
13g.51950123C>GCA388034803ATP7Bc.*447G>C (n.*447G>C)
c.*1358G>C (n.*1358G>C)
c.2128G>C (p.Val710Leu)
c.2614G>C (p.Val872Leu)
c.2281G>C (p.Val761Leu)
c.2362G>C (p.Val788Leu)
c.2380G>C (p.Val794Leu)
c.1684G>C (p.Val562Leu)
c.1324G>C (p.Val442Leu)
c.575G>C
n.3412G>C
n.1959G>C
c.2470G>C (p.Val824Leu)
n.212-3645G>C
c.2518G>C (p.Val840Leu)
c.2578G>C (p.Val860Leu)
c.430G>C (p.Val144Leu)
c.2200G>C (p.Val734Leu)
c.1282G>C (p.Val428Leu)
n.2833G>C
13g.51950123C>TCA388034805ATP7Bc.*447G>A (n.*447G>A)
c.*1358G>A (n.*1358G>A)
c.2128G>A (p.Val710Ile)
c.2614G>A (p.Val872Ile)
c.2281G>A (p.Val761Ile)
c.2362G>A (p.Val788Ile)
c.2380G>A (p.Val794Ile)
c.1684G>A (p.Val562Ile)
c.1324G>A (p.Val442Ile)
c.575G>A
n.3412G>A
n.1959G>A
c.2470G>A (p.Val824Ile)
n.212-3645G>A
c.2518G>A (p.Val840Ile)
c.2578G>A (p.Val860Ile)
c.430G>A (p.Val144Ile)
c.2200G>A (p.Val734Ile)
c.1282G>A (p.Val428Ile)
n.2833G>A
13g.51950124A=CA2091542025ATP7Bc.*446T= (n.*446T=)
c.*1357T= (n.*1357T=)
c.2127T= (p.Thr709=)
c.2613T= (p.Thr871=)
c.2280T= (p.Thr760=)
c.2361T= (p.Thr787=)
c.2379T= (p.Thr793=)
c.1683T= (p.Thr561=)
c.1323T= (p.Thr441=)
c.574T=
n.3411T=
n.1958T=
c.2469T= (p.Thr823=)
n.212-3646T=
c.2517T= (p.Thr839=)
c.2577T= (p.Thr859=)
c.429T= (p.Thr143=)
c.2199T= (p.Thr733=)
c.1281T= (p.Thr427=)
n.2832T=
13g.51950124A>CCA484024431ATP7Bc.*446T>G (n.*446T>G)
c.*1357T>G (n.*1357T>G)
c.2127T>G (p.Thr709=)
c.2613T>G (p.Thr871=)
c.2280T>G (p.Thr760=)
c.2361T>G (p.Thr787=)
c.2379T>G (p.Thr793=)
c.1683T>G (p.Thr561=)
c.1323T>G (p.Thr441=)
c.574T>G
n.3411T>G
n.1958T>G
c.2469T>G (p.Thr823=)
n.212-3646T>G
c.2517T>G (p.Thr839=)
c.2577T>G (p.Thr859=)
c.429T>G (p.Thr143=)
c.2199T>G (p.Thr733=)
c.1281T>G (p.Thr427=)
n.2832T>G
 ClinVar dbSNP gnomAD v4
13g.51950124A>GCA484024432ATP7Bc.*446T>C (n.*446T>C)
c.*1357T>C (n.*1357T>C)
c.2127T>C (p.Thr709=)
c.2613T>C (p.Thr871=)
c.2280T>C (p.Thr760=)
c.2361T>C (p.Thr787=)
c.2379T>C (p.Thr793=)
c.1683T>C (p.Thr561=)
c.1323T>C (p.Thr441=)
c.574T>C
n.3411T>C
n.1958T>C
c.2469T>C (p.Thr823=)
n.212-3646T>C
c.2517T>C (p.Thr839=)
c.2577T>C (p.Thr859=)
c.429T>C (p.Thr143=)
c.2199T>C (p.Thr733=)
c.1281T>C (p.Thr427=)
n.2832T>C
 ClinVar dbSNP
13g.51950124A>TCA484024433ATP7Bc.*446T>A (n.*446T>A)
c.*1357T>A (n.*1357T>A)
c.2127T>A (p.Thr709=)
c.2613T>A (p.Thr871=)
c.2280T>A (p.Thr760=)
c.2361T>A (p.Thr787=)
c.2379T>A (p.Thr793=)
c.1683T>A (p.Thr561=)
c.1323T>A (p.Thr441=)
c.574T>A
n.3411T>A
n.1958T>A
c.2469T>A (p.Thr823=)
n.212-3646T>A
c.2517T>A (p.Thr839=)
c.2577T>A (p.Thr859=)
c.429T>A (p.Thr143=)
c.2199T>A (p.Thr733=)
c.1281T>A (p.Thr427=)
n.2832T>A
13g.51950125G>ACA388034806ATP7Bc.*445C>T (n.*445C>T)
c.*1356C>T (n.*1356C>T)
c.2126C>T (p.Thr709Ile)
c.2612C>T (p.Thr871Ile)
c.2279C>T (p.Thr760Ile)
c.2360C>T (p.Thr787Ile)
c.2378C>T (p.Thr793Ile)
c.1682C>T (p.Thr561Ile)
c.1322C>T (p.Thr441Ile)
c.573C>T
n.3410C>T
n.1957C>T
c.2468C>T (p.Thr823Ile)
n.212-3647C>T
c.2516C>T (p.Thr839Ile)
c.2576C>T (p.Thr859Ile)
c.428C>T (p.Thr143Ile)
c.2198C>T (p.Thr733Ile)
c.1280C>T (p.Thr427Ile)
n.2831C>T
13g.51950125G>CCA388034809ATP7Bc.*445C>G (n.*445C>G)
c.*1356C>G (n.*1356C>G)
c.2126C>G (p.Thr709Ser)
c.2612C>G (p.Thr871Ser)
c.2279C>G (p.Thr760Ser)
c.2360C>G (p.Thr787Ser)
c.2378C>G (p.Thr793Ser)
c.1682C>G (p.Thr561Ser)
c.1322C>G (p.Thr441Ser)
c.573C>G
n.3410C>G
n.1957C>G
c.2468C>G (p.Thr823Ser)
n.212-3647C>G
c.2516C>G (p.Thr839Ser)
c.2576C>G (p.Thr859Ser)
c.428C>G (p.Thr143Ser)
c.2198C>G (p.Thr733Ser)
c.1280C>G (p.Thr427Ser)
n.2831C>G
13g.51950125G>TCA388034808ATP7Bc.*445C>A (n.*445C>A)
c.*1356C>A (n.*1356C>A)
c.2126C>A (p.Thr709Asn)
c.2612C>A (p.Thr871Asn)
c.2279C>A (p.Thr760Asn)
c.2360C>A (p.Thr787Asn)
c.2378C>A (p.Thr793Asn)
c.1682C>A (p.Thr561Asn)
c.1322C>A (p.Thr441Asn)
c.573C>A
n.3410C>A
n.1957C>A
c.2468C>A (p.Thr823Asn)
n.212-3647C>A
c.2516C>A (p.Thr839Asn)
c.2576C>A (p.Thr859Asn)
c.428C>A (p.Thr143Asn)
c.2198C>A (p.Thr733Asn)
c.1280C>A (p.Thr427Asn)
n.2831C>A
13g.51950126T>ACA388034810ATP7Bc.*444A>T (n.*444A>T)
c.*1355A>T (n.*1355A>T)
c.2125A>T (p.Thr709Ser)
c.2611A>T (p.Thr871Ser)
c.2278A>T (p.Thr760Ser)
c.2359A>T (p.Thr787Ser)
c.2377A>T (p.Thr793Ser)
c.1681A>T (p.Thr561Ser)
c.1321A>T (p.Thr441Ser)
c.572A>T
n.3409A>T
n.1956A>T
c.2467A>T (p.Thr823Ser)
n.212-3648A>T
c.2515A>T (p.Thr839Ser)
c.2575A>T (p.Thr859Ser)
c.427A>T (p.Thr143Ser)
c.2197A>T (p.Thr733Ser)
c.1279A>T (p.Thr427Ser)
n.2830A>T
13g.51950126T>CCA388034812ATP7Bc.*444A>G (n.*444A>G)
c.*1355A>G (n.*1355A>G)
c.2125A>G (p.Thr709Ala)
c.2611A>G (p.Thr871Ala)
c.2278A>G (p.Thr760Ala)
c.2359A>G (p.Thr787Ala)
c.2377A>G (p.Thr793Ala)
c.1681A>G (p.Thr561Ala)
c.1321A>G (p.Thr441Ala)
c.572A>G
n.3409A>G
n.1956A>G
c.2467A>G (p.Thr823Ala)
n.212-3648A>G
c.2515A>G (p.Thr839Ala)
c.2575A>G (p.Thr859Ala)
c.427A>G (p.Thr143Ala)
c.2197A>G (p.Thr733Ala)
c.1279A>G (p.Thr427Ala)
n.2830A>G
13g.51950126T>GCA388034811ATP7Bc.*444A>C (n.*444A>C)
c.*1355A>C (n.*1355A>C)
c.2125A>C (p.Thr709Pro)
c.2611A>C (p.Thr871Pro)
c.2278A>C (p.Thr760Pro)
c.2359A>C (p.Thr787Pro)
c.2377A>C (p.Thr793Pro)
c.1681A>C (p.Thr561Pro)
c.1321A>C (p.Thr441Pro)
c.572A>C
n.3409A>C
n.1956A>C
c.2467A>C (p.Thr823Pro)
n.212-3648A>C
c.2515A>C (p.Thr839Pro)
c.2575A>C (p.Thr859Pro)
c.427A>C (p.Thr143Pro)
c.2197A>C (p.Thr733Pro)
c.1279A>C (p.Thr427Pro)
n.2830A>C
13g.51950127G>ACA484024434ATP7Bc.*443C>T (n.*443C>T)
c.*1354C>T (n.*1354C>T)
c.2124C>T (p.Ser708=)
c.2610C>T (p.Ser870=)
c.2277C>T (p.Ser759=)
c.2358C>T (p.Ser786=)
c.2376C>T (p.Ser792=)
c.1680C>T (p.Ser560=)
c.1320C>T (p.Ser440=)
c.571C>T
n.3408C>T
n.1955C>T
c.2466C>T (p.Ser822=)
n.212-3649C>T
c.2514C>T (p.Ser838=)
c.2574C>T (p.Ser858=)
c.426C>T (p.Ser142=)
c.2196C>T (p.Ser732=)
c.1278C>T (p.Ser426=)
n.2829C>T
 dbSNP gnomAD v3 gnomAD v4
13g.51950127G>CCA388034813ATP7Bc.*443C>G (n.*443C>G)
c.*1354C>G (n.*1354C>G)
c.2124C>G (p.Ser708Arg)
c.2610C>G (p.Ser870Arg)
c.2277C>G (p.Ser759Arg)
c.2358C>G (p.Ser786Arg)
c.2376C>G (p.Ser792Arg)
c.1680C>G (p.Ser560Arg)
c.1320C>G (p.Ser440Arg)
c.571C>G
n.3408C>G
n.1955C>G
c.2466C>G (p.Ser822Arg)
n.212-3649C>G
c.2514C>G (p.Ser838Arg)
c.2574C>G (p.Ser858Arg)
c.426C>G (p.Ser142Arg)
c.2196C>G (p.Ser732Arg)
c.1278C>G (p.Ser426Arg)
n.2829C>G
13g.51950127G=CA2091542029ATP7Bc.*443C= (n.*443C=)
c.*1354C= (n.*1354C=)
c.2124C= (p.Ser708=)
c.2610C= (p.Ser870=)
c.2277C= (p.Ser759=)
c.2358C= (p.Ser786=)
c.2376C= (p.Ser792=)
c.1680C= (p.Ser560=)
c.1320C= (p.Ser440=)
c.571C=
n.3408C=
n.1955C=
c.2466C= (p.Ser822=)
n.212-3649C=
c.2514C= (p.Ser838=)
c.2574C= (p.Ser858=)
c.426C= (p.Ser142=)
c.2196C= (p.Ser732=)
c.1278C= (p.Ser426=)
n.2829C=
13g.51950127G>TCA388034815ATP7Bc.*443C>A (n.*443C>A)
c.*1354C>A (n.*1354C>A)
c.2124C>A (p.Ser708Arg)
c.2610C>A (p.Ser870Arg)
c.2277C>A (p.Ser759Arg)
c.2358C>A (p.Ser786Arg)
c.2376C>A (p.Ser792Arg)
c.1680C>A (p.Ser560Arg)
c.1320C>A (p.Ser440Arg)
c.571C>A
n.3408C>A
n.1955C>A
c.2466C>A (p.Ser822Arg)
n.212-3649C>A
c.2514C>A (p.Ser838Arg)
c.2574C>A (p.Ser858Arg)
c.426C>A (p.Ser142Arg)
c.2196C>A (p.Ser732Arg)
c.1278C>A (p.Ser426Arg)
n.2829C>A
13g.51950128C>ACA388034816ATP7Bc.*442G>T (n.*442G>T)
c.*1353G>T (n.*1353G>T)
c.2123G>T (p.Ser708Ile)
c.2609G>T (p.Ser870Ile)
c.2276G>T (p.Ser759Ile)
c.2357G>T (p.Ser786Ile)
c.2375G>T (p.Ser792Ile)
c.1679G>T (p.Ser560Ile)
c.1319G>T (p.Ser440Ile)
c.570G>T
n.3407G>T
n.1954G>T
c.2465G>T (p.Ser822Ile)
n.212-3650G>T
c.2513G>T (p.Ser838Ile)
c.2573G>T (p.Ser858Ile)
c.425G>T (p.Ser142Ile)
c.2195G>T (p.Ser732Ile)
c.1277G>T (p.Ser426Ile)
n.2828G>T
13g.51950128C=CA2091542034ATP7Bc.*442G= (n.*442G=)
c.*1353G= (n.*1353G=)
c.2123G= (p.Ser708=)
c.2609G= (p.Ser870=)
c.2276G= (p.Ser759=)
c.2357G= (p.Ser786=)
c.2375G= (p.Ser792=)
c.1679G= (p.Ser560=)
c.1319G= (p.Ser440=)
c.570G=
n.3407G=
n.1954G=
c.2465G= (p.Ser822=)
n.212-3650G=
c.2513G= (p.Ser838=)
c.2573G= (p.Ser858=)
c.425G= (p.Ser142=)
c.2195G= (p.Ser732=)
c.1277G= (p.Ser426=)
n.2828G=
13g.51950128C>GCA388034818ATP7Bc.*442G>C (n.*442G>C)
c.*1353G>C (n.*1353G>C)
c.2123G>C (p.Ser708Thr)
c.2609G>C (p.Ser870Thr)
c.2276G>C (p.Ser759Thr)
c.2357G>C (p.Ser786Thr)
c.2375G>C (p.Ser792Thr)
c.1679G>C (p.Ser560Thr)
c.1319G>C (p.Ser440Thr)
c.570G>C
n.3407G>C
n.1954G>C
c.2465G>C (p.Ser822Thr)
n.212-3650G>C
c.2513G>C (p.Ser838Thr)
c.2573G>C (p.Ser858Thr)
c.425G>C (p.Ser142Thr)
c.2195G>C (p.Ser732Thr)
c.1277G>C (p.Ser426Thr)
n.2828G>C
13g.51950128C>TCA6988946ATP7Bc.*442G>A (n.*442G>A)
c.*1353G>A (n.*1353G>A)
c.2123G>A (p.Ser708Asn)
c.2609G>A (p.Ser870Asn)
c.2276G>A (p.Ser759Asn)
c.2357G>A (p.Ser786Asn)
c.2375G>A (p.Ser792Asn)
c.1679G>A (p.Ser560Asn)
c.1319G>A (p.Ser440Asn)
c.570G>A
n.3407G>A
n.1954G>A
c.2465G>A (p.Ser822Asn)
n.212-3650G>A
c.2513G>A (p.Ser838Asn)
c.2573G>A (p.Ser858Asn)
c.425G>A (p.Ser142Asn)
c.2195G>A (p.Ser732Asn)
c.1277G>A (p.Ser426Asn)
n.2828G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950129T>ACA388034826ATP7Bc.*441A>T (n.*441A>T)
c.*1352A>T (n.*1352A>T)
c.2122A>T (p.Ser708Cys)
c.2608A>T (p.Ser870Cys)
c.2275A>T (p.Ser759Cys)
c.2356A>T (p.Ser786Cys)
c.2374A>T (p.Ser792Cys)
c.1678A>T (p.Ser560Cys)
c.1318A>T (p.Ser440Cys)
c.569A>T
n.3406A>T
n.1953A>T
c.2464A>T (p.Ser822Cys)
n.212-3651A>T
c.2512A>T (p.Ser838Cys)
c.2572A>T (p.Ser858Cys)
c.424A>T (p.Ser142Cys)
c.2194A>T (p.Ser732Cys)
c.1276A>T (p.Ser426Cys)
n.2827A>T
13g.51950129T>CCA388034830ATP7Bc.*441A>G (n.*441A>G)
c.*1352A>G (n.*1352A>G)
c.2122A>G (p.Ser708Gly)
c.2608A>G (p.Ser870Gly)
c.2275A>G (p.Ser759Gly)
c.2356A>G (p.Ser786Gly)
c.2374A>G (p.Ser792Gly)
c.1678A>G (p.Ser560Gly)
c.1318A>G (p.Ser440Gly)
c.569A>G
n.3406A>G
n.1953A>G
c.2464A>G (p.Ser822Gly)
n.212-3651A>G
c.2512A>G (p.Ser838Gly)
c.2572A>G (p.Ser858Gly)
c.424A>G (p.Ser142Gly)
c.2194A>G (p.Ser732Gly)
c.1276A>G (p.Ser426Gly)
n.2827A>G
13g.51950129T>GCA388034832ATP7Bc.*441A>C (n.*441A>C)
c.*1352A>C (n.*1352A>C)
c.2122A>C (p.Ser708Arg)
c.2608A>C (p.Ser870Arg)
c.2275A>C (p.Ser759Arg)
c.2356A>C (p.Ser786Arg)
c.2374A>C (p.Ser792Arg)
c.1678A>C (p.Ser560Arg)
c.1318A>C (p.Ser440Arg)
c.569A>C
n.3406A>C
n.1953A>C
c.2464A>C (p.Ser822Arg)
n.212-3651A>C
c.2512A>C (p.Ser838Arg)
c.2572A>C (p.Ser858Arg)
c.424A>C (p.Ser142Arg)
c.2194A>C (p.Ser732Arg)
c.1276A>C (p.Ser426Arg)
n.2827A>C
13g.51950130T>ACA484024435ATP7Bc.*440A>T (n.*440A>T)
c.*1351A>T (n.*1351A>T)
c.2121A>T (p.Gly707=)
c.2607A>T (p.Gly869=)
c.2274A>T (p.Gly758=)
c.2355A>T (p.Gly785=)
c.2373A>T (p.Gly791=)
c.1677A>T (p.Gly559=)
c.1317A>T (p.Gly439=)
c.568A>T
n.3405A>T
n.1952A>T
c.2463A>T (p.Gly821=)
n.212-3652A>T
c.2511A>T (p.Gly837=)
c.2571A>T (p.Gly857=)
c.423A>T (p.Gly141=)
c.2193A>T (p.Gly731=)
c.1275A>T (p.Gly425=)
n.2826A>T
13g.51950130T>CCA484024436ATP7Bc.*440A>G (n.*440A>G)
c.*1351A>G (n.*1351A>G)
c.2121A>G (p.Gly707=)
c.2607A>G (p.Gly869=)
c.2274A>G (p.Gly758=)
c.2355A>G (p.Gly785=)
c.2373A>G (p.Gly791=)
c.1677A>G (p.Gly559=)
c.1317A>G (p.Gly439=)
c.568A>G
n.3405A>G
n.1952A>G
c.2463A>G (p.Gly821=)
n.212-3652A>G
c.2511A>G (p.Gly837=)
c.2571A>G (p.Gly857=)
c.423A>G (p.Gly141=)
c.2193A>G (p.Gly731=)
c.1275A>G (p.Gly425=)
n.2826A>G
13g.51950130T>GCA484024437ATP7Bc.*440A>C (n.*440A>C)
c.*1351A>C (n.*1351A>C)
c.2121A>C (p.Gly707=)
c.2607A>C (p.Gly869=)
c.2274A>C (p.Gly758=)
c.2355A>C (p.Gly785=)
c.2373A>C (p.Gly791=)
c.1677A>C (p.Gly559=)
c.1317A>C (p.Gly439=)
c.568A>C
n.3405A>C
n.1952A>C
c.2463A>C (p.Gly821=)
n.212-3652A>C
c.2511A>C (p.Gly837=)
c.2571A>C (p.Gly857=)
c.423A>C (p.Gly141=)
c.2193A>C (p.Gly731=)
c.1275A>C (p.Gly425=)
n.2826A>C
13g.51950131C>ACA388034835ATP7Bc.*439G>T (n.*439G>T)
c.*1350G>T (n.*1350G>T)
c.2120G>T (p.Gly707Val)
c.2606G>T (p.Gly869Val)
c.2273G>T (p.Gly758Val)
c.2354G>T (p.Gly785Val)
c.2372G>T (p.Gly791Val)
c.1676G>T (p.Gly559Val)
c.1316G>T (p.Gly439Val)
c.567G>T
n.3404G>T
n.1951G>T
c.2462G>T (p.Gly821Val)
n.212-3653G>T
c.2510G>T (p.Gly837Val)
c.2570G>T (p.Gly857Val)
c.422G>T (p.Gly141Val)
c.2192G>T (p.Gly731Val)
c.1274G>T (p.Gly425Val)
n.2825G>T
13g.51950131C=CA2091542037ATP7Bc.*439G= (n.*439G=)
c.*1350G= (n.*1350G=)
c.2120G= (p.Gly707=)
c.2606G= (p.Gly869=)
c.2273G= (p.Gly758=)
c.2354G= (p.Gly785=)
c.2372G= (p.Gly791=)
c.1676G= (p.Gly559=)
c.1316G= (p.Gly439=)
c.567G=
n.3404G=
n.1951G=
c.2462G= (p.Gly821=)
n.212-3653G=
c.2510G= (p.Gly837=)
c.2570G= (p.Gly857=)
c.422G= (p.Gly141=)
c.2192G= (p.Gly731=)
c.1274G= (p.Gly425=)
n.2825G=
13g.51950131C>GCA388034838ATP7Bc.*439G>C (n.*439G>C)
c.*1350G>C (n.*1350G>C)
c.2120G>C (p.Gly707Ala)
c.2606G>C (p.Gly869Ala)
c.2273G>C (p.Gly758Ala)
c.2354G>C (p.Gly785Ala)
c.2372G>C (p.Gly791Ala)
c.1676G>C (p.Gly559Ala)
c.1316G>C (p.Gly439Ala)
c.567G>C
n.3404G>C
n.1951G>C
c.2462G>C (p.Gly821Ala)
n.212-3653G>C
c.2510G>C (p.Gly837Ala)
c.2570G>C (p.Gly857Ala)
c.422G>C (p.Gly141Ala)
c.2192G>C (p.Gly731Ala)
c.1274G>C (p.Gly425Ala)
n.2825G>C
13g.51950131C>TCA6988947ATP7Bc.*439G>A (n.*439G>A)
c.*1350G>A (n.*1350G>A)
c.2120G>A (p.Gly707Glu)
c.2606G>A (p.Gly869Glu)
c.2273G>A (p.Gly758Glu)
c.2354G>A (p.Gly785Glu)
c.2372G>A (p.Gly791Glu)
c.1676G>A (p.Gly559Glu)
c.1316G>A (p.Gly439Glu)
c.567G>A
n.3404G>A
n.1951G>A
c.2462G>A (p.Gly821Glu)
n.212-3653G>A
c.2510G>A (p.Gly837Glu)
c.2570G>A (p.Gly857Glu)
c.422G>A (p.Gly141Glu)
c.2192G>A (p.Gly731Glu)
c.1274G>A (p.Gly425Glu)
n.2825G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950132C>ACA6988948ATP7Bc.*438G>T (n.*438G>T)
c.*1349G>T (n.*1349G>T)
c.2119G>T (p.Gly707Ter)
c.2605G>T (p.Gly869Ter)
c.2272G>T (p.Gly758Ter)
c.2353G>T (p.Gly785Ter)
c.2371G>T (p.Gly791Ter)
c.1675G>T (p.Gly559Ter)
c.1315G>T (p.Gly439Ter)
c.566G>T
n.3403G>T
n.1950G>T
c.2461G>T (p.Gly821Ter)
n.212-3654G>T
c.2509G>T (p.Gly837Ter)
c.2569G>T (p.Gly857Ter)
c.421G>T (p.Gly141Ter)
c.2191G>T (p.Gly731Ter)
c.1273G>T (p.Gly425Ter)
n.2824G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51950132C=CA2091542046ATP7Bc.*438G= (n.*438G=)
c.*1349G= (n.*1349G=)
c.2119G= (p.Gly707=)
c.2605G= (p.Gly869=)
c.2272G= (p.Gly758=)
c.2353G= (p.Gly785=)
c.2371G= (p.Gly791=)
c.1675G= (p.Gly559=)
c.1315G= (p.Gly439=)
c.566G=
n.3403G=
n.1950G=
c.2461G= (p.Gly821=)
n.212-3654G=
c.2509G= (p.Gly837=)
c.2569G= (p.Gly857=)
c.421G= (p.Gly141=)
c.2191G= (p.Gly731=)
c.1273G= (p.Gly425=)
n.2824G=
13g.51950132C>GCA388034842ATP7Bc.*438G>C (n.*438G>C)
c.*1349G>C (n.*1349G>C)
c.2119G>C (p.Gly707Arg)
c.2605G>C (p.Gly869Arg)
c.2272G>C (p.Gly758Arg)
c.2353G>C (p.Gly785Arg)
c.2371G>C (p.Gly791Arg)
c.1675G>C (p.Gly559Arg)
c.1315G>C (p.Gly439Arg)
c.566G>C
n.3403G>C
n.1950G>C
c.2461G>C (p.Gly821Arg)
n.212-3654G>C
c.2509G>C (p.Gly837Arg)
c.2569G>C (p.Gly857Arg)
c.421G>C (p.Gly141Arg)
c.2191G>C (p.Gly731Arg)
c.1273G>C (p.Gly425Arg)
n.2824G>C
13g.51950132C>TCA271172ATP7Bc.*438G>A (n.*438G>A)
c.*1349G>A (n.*1349G>A)
c.2119G>A (p.Gly707Arg)
c.2605G>A (p.Gly869Arg)
c.2272G>A (p.Gly758Arg)
c.2353G>A (p.Gly785Arg)
c.2371G>A (p.Gly791Arg)
c.1675G>A (p.Gly559Arg)
c.1315G>A (p.Gly439Arg)
c.566G>A
n.3403G>A
n.1950G>A
c.2461G>A (p.Gly821Arg)
n.212-3654G>A
c.2509G>A (p.Gly837Arg)
c.2569G>A (p.Gly857Arg)
c.421G>A (p.Gly141Arg)
c.2191G>A (p.Gly731Arg)
c.1273G>A (p.Gly425Arg)
n.2824G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950132_51950133delinsCGCA2091542049ATP7Bc.*437_*438delinsCG (n.*437_*438delinsCG)
c.*1348_*1349delinsCG (n.*1348_*1349delinsCG)
c.2118_2119delinsCG (p.Pro706=)
c.2604_2605delinsCG (p.Pro868=)
c.2271_2272delinsCG (p.Pro757=)
c.2352_2353delinsCG (p.Pro784=)
c.2370_2371delinsCG (p.Pro790=)
c.1674_1675delinsCG (p.Pro558=)
c.1314_1315delinsCG (p.Pro438=)
c.565_566delinsCG
n.3402_3403delinsCG
n.1949_1950delinsCG
c.2460_2461delinsCG (p.Pro820=)
n.212-3655_212-3654delinsCG
c.2508_2509delinsCG (p.Pro836=)
c.2568_2569delinsCG (p.Pro856=)
c.420_421delinsCG (p.Pro140=)
c.2190_2191delinsCG (p.Pro730=)
c.1272_1273delinsCG (p.Pro424=)
n.2823_2824delinsCG
13g.51950133G>ACA6988949ATP7Bc.*437C>T (n.*437C>T)
c.*1348C>T (n.*1348C>T)
c.2118C>T (p.Pro706=)
c.2604C>T (p.Pro868=)
c.2271C>T (p.Pro757=)
c.2352C>T (p.Pro784=)
c.2370C>T (p.Pro790=)
c.1674C>T (p.Pro558=)
c.1314C>T (p.Pro438=)
c.565C>T
n.3402C>T
n.1949C>T
c.2460C>T (p.Pro820=)
n.212-3655C>T
c.2508C>T (p.Pro836=)
c.2568C>T (p.Pro856=)
c.420C>T (p.Pro140=)
c.2190C>T (p.Pro730=)
c.1272C>T (p.Pro424=)
n.2823C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51950133G>CCA484024438ATP7Bc.*437C>G (n.*437C>G)
c.*1348C>G (n.*1348C>G)
c.2118C>G (p.Pro706=)
c.2604C>G (p.Pro868=)
c.2271C>G (p.Pro757=)
c.2352C>G (p.Pro784=)
c.2370C>G (p.Pro790=)
c.1674C>G (p.Pro558=)
c.1314C>G (p.Pro438=)
c.565C>G
n.3402C>G
n.1949C>G
c.2460C>G (p.Pro820=)
n.212-3655C>G
c.2508C>G (p.Pro836=)
c.2568C>G (p.Pro856=)
c.420C>G (p.Pro140=)
c.2190C>G (p.Pro730=)
c.1272C>G (p.Pro424=)
n.2823C>G
13g.51950133G=CA2091542056ATP7Bc.*437C= (n.*437C=)
c.*1348C= (n.*1348C=)
c.2118C= (p.Pro706=)
c.2604C= (p.Pro868=)
c.2271C= (p.Pro757=)
c.2352C= (p.Pro784=)
c.2370C= (p.Pro790=)
c.1674C= (p.Pro558=)
c.1314C= (p.Pro438=)
c.565C=
n.3402C=
n.1949C=
c.2460C= (p.Pro820=)
n.212-3655C=
c.2508C= (p.Pro836=)
c.2568C= (p.Pro856=)
c.420C= (p.Pro140=)
c.2190C= (p.Pro730=)
c.1272C= (p.Pro424=)
n.2823C=
13g.51950133G>TCA484024439ATP7Bc.*437C>A (n.*437C>A)
c.*1348C>A (n.*1348C>A)
c.2118C>A (p.Pro706=)
c.2604C>A (p.Pro868=)
c.2271C>A (p.Pro757=)
c.2352C>A (p.Pro784=)
c.2370C>A (p.Pro790=)
c.1674C>A (p.Pro558=)
c.1314C>A (p.Pro438=)
c.565C>A
n.3402C>A
n.1949C>A
c.2460C>A (p.Pro820=)
n.212-3655C>A
c.2508C>A (p.Pro836=)
c.2568C>A (p.Pro856=)
c.420C>A (p.Pro140=)
c.2190C>A (p.Pro730=)
c.1272C>A (p.Pro424=)
n.2823C>A
13g.51950135delCA2091542058ATP7Bc.*437del (n.*437del)
c.*1348del (n.*1348del)
c.2118del (p.Gly707GlufsTer4)
c.2604del (p.Gly869GlufsTer4)
c.2271del (p.Gly758GlufsTer4)
c.2352del (p.Gly785GlufsTer4)
c.2370del (p.Gly791GlufsTer4)
c.1674del (p.Gly559GlufsTer4)
c.1314del (p.Gly439GlufsTer4)
c.565del
n.3402del
n.1949del
c.2460del (p.Gly821GlufsTer4)
n.212-3655del
c.2508del (p.Gly837GlufsTer4)
c.2568del (p.Gly857GlufsTer4)
c.420del (p.Gly141GlufsTer4)
c.2190del (p.Gly731GlufsTer4)
c.1272del (p.Gly425GlufsTer4)
n.2823del
 ClinVar dbSNP gnomAD v4
13g.51950134G>ACA388034858ATP7Bc.*436C>T (n.*436C>T)
c.*1347C>T (n.*1347C>T)
c.2117C>T (p.Pro706Leu)
c.2603C>T (p.Pro868Leu)
c.2270C>T (p.Pro757Leu)
c.2351C>T (p.Pro784Leu)
c.2369C>T (p.Pro790Leu)
c.1673C>T (p.Pro558Leu)
c.1313C>T (p.Pro438Leu)
c.564C>T
n.3401C>T
n.1948C>T
c.2459C>T (p.Pro820Leu)
n.212-3656C>T
c.2507C>T (p.Pro836Leu)
c.2567C>T (p.Pro856Leu)
c.419C>T (p.Pro140Leu)
c.2189C>T (p.Pro730Leu)
c.1271C>T (p.Pro424Leu)
n.2822C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51950134G>CCA388034857ATP7Bc.*436C>G (n.*436C>G)
c.*1347C>G (n.*1347C>G)
c.2117C>G (p.Pro706Arg)
c.2603C>G (p.Pro868Arg)
c.2270C>G (p.Pro757Arg)
c.2351C>G (p.Pro784Arg)
c.2369C>G (p.Pro790Arg)
c.1673C>G (p.Pro558Arg)
c.1313C>G (p.Pro438Arg)
c.564C>G
n.3401C>G
n.1948C>G
c.2459C>G (p.Pro820Arg)
n.212-3656C>G
c.2507C>G (p.Pro836Arg)
c.2567C>G (p.Pro856Arg)
c.419C>G (p.Pro140Arg)
c.2189C>G (p.Pro730Arg)
c.1271C>G (p.Pro424Arg)
n.2822C>G
13g.51950134G=CA2091542060ATP7Bc.*436C= (n.*436C=)
c.*1347C= (n.*1347C=)
c.2117C= (p.Pro706=)
c.2603C= (p.Pro868=)
c.2270C= (p.Pro757=)
c.2351C= (p.Pro784=)
c.2369C= (p.Pro790=)
c.1673C= (p.Pro558=)
c.1313C= (p.Pro438=)
c.564C=
n.3401C=
n.1948C=
c.2459C= (p.Pro820=)
n.212-3656C=
c.2507C= (p.Pro836=)
c.2567C= (p.Pro856=)
c.419C= (p.Pro140=)
c.2189C= (p.Pro730=)
c.1271C= (p.Pro424=)
n.2822C=
13g.51950134G>TCA388034855ATP7Bc.*436C>A (n.*436C>A)
c.*1347C>A (n.*1347C>A)
c.2117C>A (p.Pro706His)
c.2603C>A (p.Pro868His)
c.2270C>A (p.Pro757His)
c.2351C>A (p.Pro784His)
c.2369C>A (p.Pro790His)
c.1673C>A (p.Pro558His)
c.1313C>A (p.Pro438His)
c.564C>A
n.3401C>A
n.1948C>A
c.2459C>A (p.Pro820His)
n.212-3656C>A
c.2507C>A (p.Pro836His)
c.2567C>A (p.Pro856His)
c.419C>A (p.Pro140His)
c.2189C>A (p.Pro730His)
c.1271C>A (p.Pro424His)
n.2822C>A
13g.51950135G>ACA388034861ATP7Bc.*435C>T (n.*435C>T)
c.*1346C>T (n.*1346C>T)
c.2116C>T (p.Pro706Ser)
c.2602C>T (p.Pro868Ser)
c.2269C>T (p.Pro757Ser)
c.2350C>T (p.Pro784Ser)
c.2368C>T (p.Pro790Ser)
c.1672C>T (p.Pro558Ser)
c.1312C>T (p.Pro438Ser)
c.563C>T
n.3400C>T
n.1947C>T
c.2458C>T (p.Pro820Ser)
n.212-3657C>T
c.2506C>T (p.Pro836Ser)
c.2566C>T (p.Pro856Ser)
c.418C>T (p.Pro140Ser)
c.2188C>T (p.Pro730Ser)
c.1270C>T (p.Pro424Ser)
n.2821C>T
13g.51950135G>CCA388034863ATP7Bc.*435C>G (n.*435C>G)
c.*1346C>G (n.*1346C>G)
c.2116C>G (p.Pro706Ala)
c.2602C>G (p.Pro868Ala)
c.2269C>G (p.Pro757Ala)
c.2350C>G (p.Pro784Ala)
c.2368C>G (p.Pro790Ala)
c.1672C>G (p.Pro558Ala)
c.1312C>G (p.Pro438Ala)
c.563C>G
n.3400C>G
n.1947C>G
c.2458C>G (p.Pro820Ala)
n.212-3657C>G
c.2506C>G (p.Pro836Ala)
c.2566C>G (p.Pro856Ala)
c.418C>G (p.Pro140Ala)
c.2188C>G (p.Pro730Ala)
c.1270C>G (p.Pro424Ala)
n.2821C>G
13g.51950135G>TCA388034864ATP7Bc.*435C>A (n.*435C>A)
c.*1346C>A (n.*1346C>A)
c.2116C>A (p.Pro706Thr)
c.2602C>A (p.Pro868Thr)
c.2269C>A (p.Pro757Thr)
c.2350C>A (p.Pro784Thr)
c.2368C>A (p.Pro790Thr)
c.1672C>A (p.Pro558Thr)
c.1312C>A (p.Pro438Thr)
c.563C>A
n.3400C>A
n.1947C>A
c.2458C>A (p.Pro820Thr)
n.212-3657C>A
c.2506C>A (p.Pro836Thr)
c.2566C>A (p.Pro856Thr)
c.418C>A (p.Pro140Thr)
c.2188C>A (p.Pro730Thr)
c.1270C>A (p.Pro424Thr)
n.2821C>A
 gnomAD v4
13g.51950136T>ACA388034865ATP7Bc.*434A>T (n.*434A>T)
c.*1345A>T (n.*1345A>T)
c.2115A>T (p.Lys705Asn)
c.2601A>T (p.Lys867Asn)
c.2268A>T (p.Lys756Asn)
c.2349A>T (p.Lys783Asn)
c.2367A>T (p.Lys789Asn)
c.1671A>T (p.Lys557Asn)
c.1311A>T (p.Lys437Asn)
c.562A>T
n.3399A>T
n.1946A>T
c.2457A>T (p.Lys819Asn)
n.212-3658A>T
c.2505A>T (p.Lys835Asn)
c.2565A>T (p.Lys855Asn)
c.417A>T (p.Lys139Asn)
c.2187A>T (p.Lys729Asn)
c.1269A>T (p.Lys423Asn)
n.2820A>T
13g.51950136T>CCA484024440ATP7Bc.*434A>G (n.*434A>G)
c.*1345A>G (n.*1345A>G)
c.2115A>G (p.Lys705=)
c.2601A>G (p.Lys867=)
c.2268A>G (p.Lys756=)
c.2349A>G (p.Lys783=)
c.2367A>G (p.Lys789=)
c.1671A>G (p.Lys557=)
c.1311A>G (p.Lys437=)
c.562A>G
n.3399A>G
n.1946A>G
c.2457A>G (p.Lys819=)
n.212-3658A>G
c.2505A>G (p.Lys835=)
c.2565A>G (p.Lys855=)
c.417A>G (p.Lys139=)
c.2187A>G (p.Lys729=)
c.1269A>G (p.Lys423=)
n.2820A>G
 ClinVar
13g.51950136T>GCA388034866ATP7Bc.*434A>C (n.*434A>C)
c.*1345A>C (n.*1345A>C)
c.2115A>C (p.Lys705Asn)
c.2601A>C (p.Lys867Asn)
c.2268A>C (p.Lys756Asn)
c.2349A>C (p.Lys783Asn)
c.2367A>C (p.Lys789Asn)
c.1671A>C (p.Lys557Asn)
c.1311A>C (p.Lys437Asn)
c.562A>C
n.3399A>C
n.1946A>C
c.2457A>C (p.Lys819Asn)
n.212-3658A>C
c.2505A>C (p.Lys835Asn)
c.2565A>C (p.Lys855Asn)
c.417A>C (p.Lys139Asn)
c.2187A>C (p.Lys729Asn)
c.1269A>C (p.Lys423Asn)
n.2820A>C
13g.51950137T>ACA388034867ATP7Bc.*433A>T (n.*433A>T)
c.*1344A>T (n.*1344A>T)
c.2114A>T (p.Lys705Ile)
c.2600A>T (p.Lys867Ile)
c.2267A>T (p.Lys756Ile)
c.2348A>T (p.Lys783Ile)
c.2366A>T (p.Lys789Ile)
c.1670A>T (p.Lys557Ile)
c.1310A>T (p.Lys437Ile)
c.561A>T
n.3398A>T
n.1945A>T
c.2456A>T (p.Lys819Ile)
n.212-3659A>T
c.2504A>T (p.Lys835Ile)
c.2564A>T (p.Lys855Ile)
c.416A>T (p.Lys139Ile)
c.2186A>T (p.Lys729Ile)
c.1268A>T (p.Lys423Ile)
n.2819A>T
13g.51950137T>CCA388034869ATP7Bc.*433A>G (n.*433A>G)
c.*1344A>G (n.*1344A>G)
c.2114A>G (p.Lys705Arg)
c.2600A>G (p.Lys867Arg)
c.2267A>G (p.Lys756Arg)
c.2348A>G (p.Lys783Arg)
c.2366A>G (p.Lys789Arg)
c.1670A>G (p.Lys557Arg)
c.1310A>G (p.Lys437Arg)
c.561A>G
n.3398A>G
n.1945A>G
c.2456A>G (p.Lys819Arg)
n.212-3659A>G
c.2504A>G (p.Lys835Arg)
c.2564A>G (p.Lys855Arg)
c.416A>G (p.Lys139Arg)
c.2186A>G (p.Lys729Arg)
c.1268A>G (p.Lys423Arg)
n.2819A>G
13g.51950137T>GCA388034871ATP7Bc.*433A>C (n.*433A>C)
c.*1344A>C (n.*1344A>C)
c.2114A>C (p.Lys705Thr)
c.2600A>C (p.Lys867Thr)
c.2267A>C (p.Lys756Thr)
c.2348A>C (p.Lys783Thr)
c.2366A>C (p.Lys789Thr)
c.1670A>C (p.Lys557Thr)
c.1310A>C (p.Lys437Thr)
c.561A>C
n.3398A>C
n.1945A>C
c.2456A>C (p.Lys819Thr)
n.212-3659A>C
c.2504A>C (p.Lys835Thr)
c.2564A>C (p.Lys855Thr)
c.416A>C (p.Lys139Thr)
c.2186A>C (p.Lys729Thr)
c.1268A>C (p.Lys423Thr)
n.2819A>C
13g.51950138T>ACA388034874ATP7Bc.*432A>T (n.*432A>T)
c.*1343A>T (n.*1343A>T)
c.2113A>T (p.Lys705Ter)
c.2599A>T (p.Lys867Ter)
c.2266A>T (p.Lys756Ter)
c.2347A>T (p.Lys783Ter)
c.2365A>T (p.Lys789Ter)
c.1669A>T (p.Lys557Ter)
c.1309A>T (p.Lys437Ter)
c.560A>T
n.3397A>T
n.1944A>T
c.2455A>T (p.Lys819Ter)
n.212-3660A>T
c.2503A>T (p.Lys835Ter)
c.2563A>T (p.Lys855Ter)
c.415A>T (p.Lys139Ter)
c.2185A>T (p.Lys729Ter)
c.1267A>T (p.Lys423Ter)
n.2818A>T
13g.51950138T>CCA388034876ATP7Bc.*432A>G (n.*432A>G)
c.*1343A>G (n.*1343A>G)
c.2113A>G (p.Lys705Glu)
c.2599A>G (p.Lys867Glu)
c.2266A>G (p.Lys756Glu)
c.2347A>G (p.Lys783Glu)
c.2365A>G (p.Lys789Glu)
c.1669A>G (p.Lys557Glu)
c.1309A>G (p.Lys437Glu)
c.560A>G
n.3397A>G
n.1944A>G
c.2455A>G (p.Lys819Glu)
n.212-3660A>G
c.2503A>G (p.Lys835Glu)
c.2563A>G (p.Lys855Glu)
c.415A>G (p.Lys139Glu)
c.2185A>G (p.Lys729Glu)
c.1267A>G (p.Lys423Glu)
n.2818A>G
13g.51950138T>GCA388034882ATP7Bc.*432A>C (n.*432A>C)
c.*1343A>C (n.*1343A>C)
c.2113A>C (p.Lys705Gln)
c.2599A>C (p.Lys867Gln)
c.2266A>C (p.Lys756Gln)
c.2347A>C (p.Lys783Gln)
c.2365A>C (p.Lys789Gln)
c.1669A>C (p.Lys557Gln)
c.1309A>C (p.Lys437Gln)
c.560A>C
n.3397A>C
n.1944A>C
c.2455A>C (p.Lys819Gln)
n.212-3660A>C
c.2503A>C (p.Lys835Gln)
c.2563A>C (p.Lys855Gln)
c.415A>C (p.Lys139Gln)
c.2185A>C (p.Lys729Gln)
c.1267A>C (p.Lys423Gln)
n.2818A>C
13g.51950139C>ACA388034884ATP7Bc.*431G>T (n.*431G>T)
c.*1342G>T (n.*1342G>T)
c.2112G>T (p.Lys704Asn)
c.2598G>T (p.Lys866Asn)
c.2265G>T (p.Lys755Asn)
c.2346G>T (p.Lys782Asn)
c.2364G>T (p.Lys788Asn)
c.1668G>T (p.Lys556Asn)
c.1308G>T (p.Lys436Asn)
c.559G>T
n.3396G>T
n.1943G>T
c.2454G>T (p.Lys818Asn)
n.212-3661G>T
c.2502G>T (p.Lys834Asn)
c.2562G>T (p.Lys854Asn)
c.414G>T (p.Lys138Asn)
c.2184G>T (p.Lys728Asn)
c.1266G>T (p.Lys422Asn)
n.2817G>T
13g.51950139C>GCA388034885ATP7Bc.*431G>C (n.*431G>C)
c.*1342G>C (n.*1342G>C)
c.2112G>C (p.Lys704Asn)
c.2598G>C (p.Lys866Asn)
c.2265G>C (p.Lys755Asn)
c.2346G>C (p.Lys782Asn)
c.2364G>C (p.Lys788Asn)
c.1668G>C (p.Lys556Asn)
c.1308G>C (p.Lys436Asn)
c.559G>C
n.3396G>C
n.1943G>C
c.2454G>C (p.Lys818Asn)
n.212-3661G>C
c.2502G>C (p.Lys834Asn)
c.2562G>C (p.Lys854Asn)
c.414G>C (p.Lys138Asn)
c.2184G>C (p.Lys728Asn)
c.1266G>C (p.Lys422Asn)
n.2817G>C
13g.51950139C>TCA484024441ATP7Bc.*431G>A (n.*431G>A)
c.*1342G>A (n.*1342G>A)
c.2112G>A (p.Lys704=)
c.2598G>A (p.Lys866=)
c.2265G>A (p.Lys755=)
c.2346G>A (p.Lys782=)
c.2364G>A (p.Lys788=)
c.1668G>A (p.Lys556=)
c.1308G>A (p.Lys436=)
c.559G>A
n.3396G>A
n.1943G>A
c.2454G>A (p.Lys818=)
n.212-3661G>A
c.2502G>A (p.Lys834=)
c.2562G>A (p.Lys854=)
c.414G>A (p.Lys138=)
c.2184G>A (p.Lys728=)
c.1266G>A (p.Lys422=)
n.2817G>A
13g.51950140T>ACA388034890ATP7Bc.*430A>T (n.*430A>T)
c.*1341A>T (n.*1341A>T)
c.2111A>T (p.Lys704Met)
c.2597A>T (p.Lys866Met)
c.2264A>T (p.Lys755Met)
c.2345A>T (p.Lys782Met)
c.2363A>T (p.Lys788Met)
c.1667A>T (p.Lys556Met)
c.1307A>T (p.Lys436Met)
c.558A>T
n.3395A>T
n.1942A>T
c.2453A>T (p.Lys818Met)
n.212-3662A>T
c.2501A>T (p.Lys834Met)
c.2561A>T (p.Lys854Met)
c.413A>T (p.Lys138Met)
c.2183A>T (p.Lys728Met)
c.1265A>T (p.Lys422Met)
n.2816A>T
13g.51950140T>CCA388034893ATP7Bc.*430A>G (n.*430A>G)
c.*1341A>G (n.*1341A>G)
c.2111A>G (p.Lys704Arg)
c.2597A>G (p.Lys866Arg)
c.2264A>G (p.Lys755Arg)
c.2345A>G (p.Lys782Arg)
c.2363A>G (p.Lys788Arg)
c.1667A>G (p.Lys556Arg)
c.1307A>G (p.Lys436Arg)
c.558A>G
n.3395A>G
n.1942A>G
c.2453A>G (p.Lys818Arg)
n.212-3662A>G
c.2501A>G (p.Lys834Arg)
c.2561A>G (p.Lys854Arg)
c.413A>G (p.Lys138Arg)
c.2183A>G (p.Lys728Arg)
c.1265A>G (p.Lys422Arg)
n.2816A>G
13g.51950140T>GCA388034888ATP7Bc.*430A>C (n.*430A>C)
c.*1341A>C (n.*1341A>C)
c.2111A>C (p.Lys704Thr)
c.2597A>C (p.Lys866Thr)
c.2264A>C (p.Lys755Thr)
c.2345A>C (p.Lys782Thr)
c.2363A>C (p.Lys788Thr)
c.1667A>C (p.Lys556Thr)
c.1307A>C (p.Lys436Thr)
c.558A>C
n.3395A>C
n.1942A>C
c.2453A>C (p.Lys818Thr)
n.212-3662A>C
c.2501A>C (p.Lys834Thr)
c.2561A>C (p.Lys854Thr)
c.413A>C (p.Lys138Thr)
c.2183A>C (p.Lys728Thr)
c.1265A>C (p.Lys422Thr)
n.2816A>C
13g.51950141T>ACA388034895ATP7Bc.*429A>T (n.*429A>T)
c.*1340A>T (n.*1340A>T)
c.2110A>T (p.Lys704Ter)
c.2596A>T (p.Lys866Ter)
c.2263A>T (p.Lys755Ter)
c.2344A>T (p.Lys782Ter)
c.2362A>T (p.Lys788Ter)
c.1666A>T (p.Lys556Ter)
c.1306A>T (p.Lys436Ter)
c.557A>T
n.3394A>T
n.1941A>T
c.2452A>T (p.Lys818Ter)
n.212-3663A>T
c.2500A>T (p.Lys834Ter)
c.2560A>T (p.Lys854Ter)
c.412A>T (p.Lys138Ter)
c.2182A>T (p.Lys728Ter)
c.1264A>T (p.Lys422Ter)
n.2815A>T
13g.51950141T>CCA388034903ATP7Bc.*429A>G (n.*429A>G)
c.*1340A>G (n.*1340A>G)
c.2110A>G (p.Lys704Glu)
c.2596A>G (p.Lys866Glu)
c.2263A>G (p.Lys755Glu)
c.2344A>G (p.Lys782Glu)
c.2362A>G (p.Lys788Glu)
c.1666A>G (p.Lys556Glu)
c.1306A>G (p.Lys436Glu)
c.557A>G
n.3394A>G
n.1941A>G
c.2452A>G (p.Lys818Glu)
n.212-3663A>G
c.2500A>G (p.Lys834Glu)
c.2560A>G (p.Lys854Glu)
c.412A>G (p.Lys138Glu)
c.2182A>G (p.Lys728Glu)
c.1264A>G (p.Lys422Glu)
n.2815A>G
 dbSNP gnomAD v4
13g.51950141T>GCA388034906ATP7Bc.*429A>C (n.*429A>C)
c.*1340A>C (n.*1340A>C)
c.2110A>C (p.Lys704Gln)
c.2596A>C (p.Lys866Gln)
c.2263A>C (p.Lys755Gln)
c.2344A>C (p.Lys782Gln)
c.2362A>C (p.Lys788Gln)
c.1666A>C (p.Lys556Gln)
c.1306A>C (p.Lys436Gln)
c.557A>C
n.3394A>C
n.1941A>C
c.2452A>C (p.Lys818Gln)
n.212-3663A>C
c.2500A>C (p.Lys834Gln)
c.2560A>C (p.Lys854Gln)
c.412A>C (p.Lys138Gln)
c.2182A>C (p.Lys728Gln)
c.1264A>C (p.Lys422Gln)
n.2815A>C
13g.51950141T=CA2091542063ATP7Bc.*429A= (n.*429A=)
c.*1340A= (n.*1340A=)
c.2110A= (p.Lys704=)
c.2596A= (p.Lys866=)
c.2263A= (p.Lys755=)
c.2344A= (p.Lys782=)
c.2362A= (p.Lys788=)
c.1666A= (p.Lys556=)
c.1306A= (p.Lys436=)
c.557A=
n.3394A=
n.1941A=
c.2452A= (p.Lys818=)
n.212-3663A=
c.2500A= (p.Lys834=)
c.2560A= (p.Lys854=)
c.412A= (p.Lys138=)
c.2182A= (p.Lys728=)
c.1264A= (p.Lys422=)
n.2815A=
13g.51950142A>CCA484024444ATP7Bc.*428T>G (n.*428T>G)
c.*1339T>G (n.*1339T>G)
c.2109T>G (p.Thr703=)
c.2595T>G (p.Thr865=)
c.2262T>G (p.Thr754=)
c.2343T>G (p.Thr781=)
c.2361T>G (p.Thr787=)
c.1665T>G (p.Thr555=)
c.1305T>G (p.Thr435=)
c.556T>G
n.3393T>G
n.1940T>G
c.2451T>G (p.Thr817=)
n.212-3664T>G
c.2499T>G (p.Thr833=)
c.2559T>G (p.Thr853=)
c.411T>G (p.Thr137=)
c.2181T>G (p.Thr727=)
c.1263T>G (p.Thr421=)
n.2814T>G
13g.51950142A>GCA484024443ATP7Bc.*428T>C (n.*428T>C)
c.*1339T>C (n.*1339T>C)
c.2109T>C (p.Thr703=)
c.2595T>C (p.Thr865=)
c.2262T>C (p.Thr754=)
c.2343T>C (p.Thr781=)
c.2361T>C (p.Thr787=)
c.1665T>C (p.Thr555=)
c.1305T>C (p.Thr435=)
c.556T>C
n.3393T>C
n.1940T>C
c.2451T>C (p.Thr817=)
n.212-3664T>C
c.2499T>C (p.Thr833=)
c.2559T>C (p.Thr853=)
c.411T>C (p.Thr137=)
c.2181T>C (p.Thr727=)
c.1263T>C (p.Thr421=)
n.2814T>C
 ClinVar
13g.51950142A>TCA484024442ATP7Bc.*428T>A (n.*428T>A)
c.*1339T>A (n.*1339T>A)
c.2109T>A (p.Thr703=)
c.2595T>A (p.Thr865=)
c.2262T>A (p.Thr754=)
c.2343T>A (p.Thr781=)
c.2361T>A (p.Thr787=)
c.1665T>A (p.Thr555=)
c.1305T>A (p.Thr435=)
c.556T>A
n.3393T>A
n.1940T>A
c.2451T>A (p.Thr817=)
n.212-3664T>A
c.2499T>A (p.Thr833=)
c.2559T>A (p.Thr853=)
c.411T>A (p.Thr137=)
c.2181T>A (p.Thr727=)
c.1263T>A (p.Thr421=)
n.2814T>A
13g.51950142dupCA2739277662ATP7Bc.*428dup (n.*428dup)
c.*1339dup (n.*1339dup)
c.2109dup (p.Lys704Ter)
c.2595dup (p.Lys866Ter)
c.2262dup (p.Lys755Ter)
c.2343dup (p.Lys782Ter)
c.2361dup (p.Lys788Ter)
c.1665dup (p.Lys556Ter)
c.1305dup (p.Lys436Ter)
c.556dup
n.3393dup
n.1940dup
c.2451dup (p.Lys818Ter)
n.212-3664dup
c.2499dup (p.Lys834Ter)
c.2559dup (p.Lys854Ter)
c.411dup (p.Lys138Ter)
c.2181dup (p.Lys728Ter)
c.1263dup (p.Lys422Ter)
n.2814dup
 ClinVar
13g.51950143G>ACA388034909ATP7Bc.*427C>T (n.*427C>T)
c.*1338C>T (n.*1338C>T)
c.2108C>T (p.Thr703Ile)
c.2594C>T (p.Thr865Ile)
c.2261C>T (p.Thr754Ile)
c.2342C>T (p.Thr781Ile)
c.2360C>T (p.Thr787Ile)
c.1664C>T (p.Thr555Ile)
c.1304C>T (p.Thr435Ile)
c.555C>T
n.3392C>T
n.1939C>T
c.2450C>T (p.Thr817Ile)
n.212-3665C>T
c.2498C>T (p.Thr833Ile)
c.2558C>T (p.Thr853Ile)
c.410C>T (p.Thr137Ile)
c.2180C>T (p.Thr727Ile)
c.1262C>T (p.Thr421Ile)
n.2813C>T
 dbSNP
13g.51950143G>CCA388034911ATP7Bc.*427C>G (n.*427C>G)
c.*1338C>G (n.*1338C>G)
c.2108C>G (p.Thr703Ser)
c.2594C>G (p.Thr865Ser)
c.2261C>G (p.Thr754Ser)
c.2342C>G (p.Thr781Ser)
c.2360C>G (p.Thr787Ser)
c.1664C>G (p.Thr555Ser)
c.1304C>G (p.Thr435Ser)
c.555C>G
n.3392C>G
n.1939C>G
c.2450C>G (p.Thr817Ser)
n.212-3665C>G
c.2498C>G (p.Thr833Ser)
c.2558C>G (p.Thr853Ser)
c.410C>G (p.Thr137Ser)
c.2180C>G (p.Thr727Ser)
c.1262C>G (p.Thr421Ser)
n.2813C>G
13g.51950143G=CA2091542067ATP7Bc.*427C= (n.*427C=)
c.*1338C= (n.*1338C=)
c.2108C= (p.Thr703=)
c.2594C= (p.Thr865=)
c.2261C= (p.Thr754=)
c.2342C= (p.Thr781=)
c.2360C= (p.Thr787=)
c.1664C= (p.Thr555=)
c.1304C= (p.Thr435=)
c.555C=
n.3392C=
n.1939C=
c.2450C= (p.Thr817=)
n.212-3665C=
c.2498C= (p.Thr833=)
c.2558C= (p.Thr853=)
c.410C= (p.Thr137=)
c.2180C= (p.Thr727=)
c.1262C= (p.Thr421=)
n.2813C=
13g.51950143G>TCA388034913ATP7Bc.*427C>A (n.*427C>A)
c.*1338C>A (n.*1338C>A)
c.2108C>A (p.Thr703Asn)
c.2594C>A (p.Thr865Asn)
c.2261C>A (p.Thr754Asn)
c.2342C>A (p.Thr781Asn)
c.2360C>A (p.Thr787Asn)
c.1664C>A (p.Thr555Asn)
c.1304C>A (p.Thr435Asn)
c.555C>A
n.3392C>A
n.1939C>A
c.2450C>A (p.Thr817Asn)
n.212-3665C>A
c.2498C>A (p.Thr833Asn)
c.2558C>A (p.Thr853Asn)
c.410C>A (p.Thr137Asn)
c.2180C>A (p.Thr727Asn)
c.1262C>A (p.Thr421Asn)
n.2813C>A
13g.51950144T>ACA388034916ATP7Bc.*426A>T (n.*426A>T)
c.*1337A>T (n.*1337A>T)
c.2107A>T (p.Thr703Ser)
c.2593A>T (p.Thr865Ser)
c.2260A>T (p.Thr754Ser)
c.2341A>T (p.Thr781Ser)
c.2359A>T (p.Thr787Ser)
c.1663A>T (p.Thr555Ser)
c.1303A>T (p.Thr435Ser)
c.554A>T
n.3391A>T
n.1938A>T
c.2449A>T (p.Thr817Ser)
n.212-3666A>T
c.2497A>T (p.Thr833Ser)
c.2557A>T (p.Thr853Ser)
c.409A>T (p.Thr137Ser)
c.2179A>T (p.Thr727Ser)
c.1261A>T (p.Thr421Ser)
n.2812A>T
13g.51950144T>CCA388034917ATP7Bc.*426A>G (n.*426A>G)
c.*1337A>G (n.*1337A>G)
c.2107A>G (p.Thr703Ala)
c.2593A>G (p.Thr865Ala)
c.2260A>G (p.Thr754Ala)
c.2341A>G (p.Thr781Ala)
c.2359A>G (p.Thr787Ala)
c.1663A>G (p.Thr555Ala)
c.1303A>G (p.Thr435Ala)
c.554A>G
n.3391A>G
n.1938A>G
c.2449A>G (p.Thr817Ala)
n.212-3666A>G
c.2497A>G (p.Thr833Ala)
c.2557A>G (p.Thr853Ala)
c.409A>G (p.Thr137Ala)
c.2179A>G (p.Thr727Ala)
c.1261A>G (p.Thr421Ala)
n.2812A>G
13g.51950144T>GCA388034918ATP7Bc.*426A>C (n.*426A>C)
c.*1337A>C (n.*1337A>C)
c.2107A>C (p.Thr703Pro)
c.2593A>C (p.Thr865Pro)
c.2260A>C (p.Thr754Pro)
c.2341A>C (p.Thr781Pro)
c.2359A>C (p.Thr787Pro)
c.1663A>C (p.Thr555Pro)
c.1303A>C (p.Thr435Pro)
c.554A>C
n.3391A>C
n.1938A>C
c.2449A>C (p.Thr817Pro)
n.212-3666A>C
c.2497A>C (p.Thr833Pro)
c.2557A>C (p.Thr853Pro)
c.409A>C (p.Thr137Pro)
c.2179A>C (p.Thr727Pro)
c.1261A>C (p.Thr421Pro)
n.2812A>C
13g.51950146_51950149dupCA2695218793ATP7Bc.*423_*426dup (n.*423_*426dup)
c.*1334_*1337dup (n.*1334_*1337dup)
c.2104_2107dup (p.Thr703SerfsTer3)
c.2590_2593dup (p.Thr865SerfsTer3)
c.2257_2260dup (p.Thr754SerfsTer3)
c.2338_2341dup (p.Thr781SerfsTer3)
c.2356_2359dup (p.Thr787SerfsTer3)
c.1660_1663dup (p.Thr555SerfsTer3)
c.1300_1303dup (p.Thr435SerfsTer3)
c.551_554dup
n.3388_3391dup
n.1935_1938dup
c.2446_2449dup (p.Thr817SerfsTer3)
n.212-3669_212-3666dup
c.2494_2497dup (p.Thr833SerfsTer3)
c.2554_2557dup (p.Thr853SerfsTer3)
c.406_409dup (p.Thr137SerfsTer3)
c.2176_2179dup (p.Thr727SerfsTer3)
c.1258_1261dup (p.Thr421SerfsTer3)
n.2809_2812dup
13g.51950145G>ACA484024445ATP7Bc.*425C>T (n.*425C>T)
c.*1336C>T (n.*1336C>T)
c.2106C>T (p.Val702=)
c.2592C>T (p.Val864=)
c.2259C>T (p.Val753=)
c.2340C>T (p.Val780=)
c.2358C>T (p.Val786=)
c.1662C>T (p.Val554=)
c.1302C>T (p.Val434=)
c.553C>T
n.3390C>T
n.1937C>T
c.2448C>T (p.Val816=)
n.212-3667C>T
c.2496C>T (p.Val832=)
c.2556C>T (p.Val852=)
c.408C>T (p.Val136=)
c.2178C>T (p.Val726=)
c.1260C>T (p.Val420=)
n.2811C>T
13g.51950145G>CCA250085345ATP7Bc.*425C>G (n.*425C>G)
c.*1336C>G (n.*1336C>G)
c.2106C>G (p.Val702=)
c.2592C>G (p.Val864=)
c.2259C>G (p.Val753=)
c.2340C>G (p.Val780=)
c.2358C>G (p.Val786=)
c.1662C>G (p.Val554=)
c.1302C>G (p.Val434=)
c.553C>G
n.3390C>G
n.1937C>G
c.2448C>G (p.Val816=)
n.212-3667C>G
c.2496C>G (p.Val832=)
c.2556C>G (p.Val852=)
c.408C>G (p.Val136=)
c.2178C>G (p.Val726=)
c.1260C>G (p.Val420=)
n.2811C>G
 dbSNP gnomAD v3 gnomAD v4
13g.51950145G=CA2091542071ATP7Bc.*425C= (n.*425C=)
c.*1336C= (n.*1336C=)
c.2106C= (p.Val702=)
c.2592C= (p.Val864=)
c.2259C= (p.Val753=)
c.2340C= (p.Val780=)
c.2358C= (p.Val786=)
c.1662C= (p.Val554=)
c.1302C= (p.Val434=)
c.553C=
n.3390C=
n.1937C=
c.2448C= (p.Val816=)
n.212-3667C=
c.2496C= (p.Val832=)
c.2556C= (p.Val852=)
c.408C= (p.Val136=)
c.2178C= (p.Val726=)
c.1260C= (p.Val420=)
n.2811C=
13g.51950145G>TCA484024446ATP7Bc.*425C>A (n.*425C>A)
c.*1336C>A (n.*1336C>A)
c.2106C>A (p.Val702=)
c.2592C>A (p.Val864=)
c.2259C>A (p.Val753=)
c.2340C>A (p.Val780=)
c.2358C>A (p.Val786=)
c.1662C>A (p.Val554=)
c.1302C>A (p.Val434=)
c.553C>A
n.3390C>A
n.1937C>A
c.2448C>A (p.Val816=)
n.212-3667C>A
c.2496C>A (p.Val832=)
c.2556C>A (p.Val852=)
c.408C>A (p.Val136=)
c.2178C>A (p.Val726=)
c.1260C>A (p.Val420=)
n.2811C>A
13g.51950146A=CA2091542075ATP7Bc.*424T= (n.*424T=)
c.*1335T= (n.*1335T=)
c.2105T= (p.Val702=)
c.2591T= (p.Val864=)
c.2258T= (p.Val753=)
c.2339T= (p.Val780=)
c.2357T= (p.Val786=)
c.1661T= (p.Val554=)
c.1301T= (p.Val434=)
c.552T=
n.3389T=
n.1936T=
c.2447T= (p.Val816=)
n.212-3668T=
c.2495T= (p.Val832=)
c.2555T= (p.Val852=)
c.407T= (p.Val136=)
c.2177T= (p.Val726=)
c.1259T= (p.Val420=)
n.2810T=
13g.51950146A>CCA388034919ATP7Bc.*424T>G (n.*424T>G)
c.*1335T>G (n.*1335T>G)
c.2105T>G (p.Val702Gly)
c.2591T>G (p.Val864Gly)
c.2258T>G (p.Val753Gly)
c.2339T>G (p.Val780Gly)
c.2357T>G (p.Val786Gly)
c.1661T>G (p.Val554Gly)
c.1301T>G (p.Val434Gly)
c.552T>G
n.3389T>G
n.1936T>G
c.2447T>G (p.Val816Gly)
n.212-3668T>G
c.2495T>G (p.Val832Gly)
c.2555T>G (p.Val852Gly)
c.407T>G (p.Val136Gly)
c.2177T>G (p.Val726Gly)
c.1259T>G (p.Val420Gly)
n.2810T>G
 ClinVar dbSNP
13g.51950146A>GCA388034922ATP7Bc.*424T>C (n.*424T>C)
c.*1335T>C (n.*1335T>C)
c.2105T>C (p.Val702Ala)
c.2591T>C (p.Val864Ala)
c.2258T>C (p.Val753Ala)
c.2339T>C (p.Val780Ala)
c.2357T>C (p.Val786Ala)
c.1661T>C (p.Val554Ala)
c.1301T>C (p.Val434Ala)
c.552T>C
n.3389T>C
n.1936T>C
c.2447T>C (p.Val816Ala)
n.212-3668T>C
c.2495T>C (p.Val832Ala)
c.2555T>C (p.Val852Ala)
c.407T>C (p.Val136Ala)
c.2177T>C (p.Val726Ala)
c.1259T>C (p.Val420Ala)
n.2810T>C
13g.51950146A>TCA388034926ATP7Bc.*424T>A (n.*424T>A)
c.*1335T>A (n.*1335T>A)
c.2105T>A (p.Val702Asp)
c.2591T>A (p.Val864Asp)
c.2258T>A (p.Val753Asp)
c.2339T>A (p.Val780Asp)
c.2357T>A (p.Val786Asp)
c.1661T>A (p.Val554Asp)
c.1301T>A (p.Val434Asp)
c.552T>A
n.3389T>A
n.1936T>A
c.2447T>A (p.Val816Asp)
n.212-3668T>A
c.2495T>A (p.Val832Asp)
c.2555T>A (p.Val852Asp)
c.407T>A (p.Val136Asp)
c.2177T>A (p.Val726Asp)
c.1259T>A (p.Val420Asp)
n.2810T>A
13g.51950147C>ACA388015278ATP7Bc.*423G>T (n.*423G>T)
c.*1334G>T (n.*1334G>T)
c.2104G>T (p.Val702Phe)
c.2590G>T (p.Val864Phe)
c.2257G>T (p.Val753Phe)
c.2338G>T (p.Val780Phe)
c.2356G>T (p.Val786Phe)
c.1660G>T (p.Val554Phe)
c.1300G>T (p.Val434Phe)
c.551G>T
n.3388G>T
n.1935G>T
c.2446G>T (p.Val816Phe)
n.212-3669G>T
c.2494G>T (p.Val832Phe)
c.2554G>T (p.Val852Phe)
c.406G>T (p.Val136Phe)
c.2176G>T (p.Val726Phe)
c.1258G>T (p.Val420Phe)
n.2809G>T
13g.51950147C>GCA388015290ATP7Bc.*423G>C (n.*423G>C)
c.*1334G>C (n.*1334G>C)
c.2104G>C (p.Val702Leu)
c.2590G>C (p.Val864Leu)
c.2257G>C (p.Val753Leu)
c.2338G>C (p.Val780Leu)
c.2356G>C (p.Val786Leu)
c.1660G>C (p.Val554Leu)
c.1300G>C (p.Val434Leu)
c.551G>C
n.3388G>C
n.1935G>C
c.2446G>C (p.Val816Leu)
n.212-3669G>C
c.2494G>C (p.Val832Leu)
c.2554G>C (p.Val852Leu)
c.406G>C (p.Val136Leu)
c.2176G>C (p.Val726Leu)
c.1258G>C (p.Val420Leu)
n.2809G>C
 COSMIC
13g.51950147C>TCA388015284ATP7Bc.*423G>A (n.*423G>A)
c.*1334G>A (n.*1334G>A)
c.2104G>A (p.Val702Ile)
c.2590G>A (p.Val864Ile)
c.2257G>A (p.Val753Ile)
c.2338G>A (p.Val780Ile)
c.2356G>A (p.Val786Ile)
c.1660G>A (p.Val554Ile)
c.1300G>A (p.Val434Ile)
c.551G>A
n.3388G>A
n.1935G>A
c.2446G>A (p.Val816Ile)
n.212-3669G>A
c.2494G>A (p.Val832Ile)
c.2554G>A (p.Val852Ile)
c.406G>A (p.Val136Ile)
c.2176G>A (p.Val726Ile)
c.1258G>A (p.Val420Ile)
n.2809G>A
13g.51950148delCA2499222476ATP7Bc.*422del (n.*422del)
c.*1333del (n.*1333del)
c.2103del (p.Val702SerfsTer9)
c.2589del (p.Val864SerfsTer9)
c.2256del (p.Val753SerfsTer9)
c.2337del (p.Val780SerfsTer9)
c.2355del (p.Val786SerfsTer9)
c.1659del (p.Val554SerfsTer9)
c.1299del (p.Val434SerfsTer9)
c.550del
n.3387del
n.1934del
c.2445del (p.Val816SerfsTer9)
n.212-3670del
c.2493del (p.Val832SerfsTer9)
c.2553del (p.Val852SerfsTer9)
c.405del (p.Val136SerfsTer9)
c.2175del (p.Val726SerfsTer9)
c.1257del (p.Val420SerfsTer9)
n.2808del
 ClinVar dbSNP gnomAD v4
13g.51950148T>ACA483895714ATP7Bc.*422A>T (n.*422A>T)
c.*1333A>T (n.*1333A>T)
c.2103A>T (p.Pro701=)
c.2589A>T (p.Pro863=)
c.2256A>T (p.Pro752=)
c.2337A>T (p.Pro779=)
c.2355A>T (p.Pro785=)
c.1659A>T (p.Pro553=)
c.1299A>T (p.Pro433=)
c.550A>T
n.3387A>T
n.1934A>T
c.2445A>T (p.Pro815=)
n.212-3670A>T
c.2493A>T (p.Pro831=)
c.2553A>T (p.Pro851=)
c.405A>T (p.Pro135=)
c.2175A>T (p.Pro725=)
c.1257A>T (p.Pro419=)
n.2808A>T
13g.51950148T>CCA483895716ATP7Bc.*422A>G (n.*422A>G)
c.*1333A>G (n.*1333A>G)
c.2103A>G (p.Pro701=)
c.2589A>G (p.Pro863=)
c.2256A>G (p.Pro752=)
c.2337A>G (p.Pro779=)
c.2355A>G (p.Pro785=)
c.1659A>G (p.Pro553=)
c.1299A>G (p.Pro433=)
c.550A>G
n.3387A>G
n.1934A>G
c.2445A>G (p.Pro815=)
n.212-3670A>G
c.2493A>G (p.Pro831=)
c.2553A>G (p.Pro851=)
c.405A>G (p.Pro135=)
c.2175A>G (p.Pro725=)
c.1257A>G (p.Pro419=)
n.2808A>G
 ClinVar
13g.51950148T>GCA483895715ATP7Bc.*422A>C (n.*422A>C)
c.*1333A>C (n.*1333A>C)
c.2103A>C (p.Pro701=)
c.2589A>C (p.Pro863=)
c.2256A>C (p.Pro752=)
c.2337A>C (p.Pro779=)
c.2355A>C (p.Pro785=)
c.1659A>C (p.Pro553=)
c.1299A>C (p.Pro433=)
c.550A>C
n.3387A>C
n.1934A>C
c.2445A>C (p.Pro815=)
n.212-3670A>C
c.2493A>C (p.Pro831=)
c.2553A>C (p.Pro851=)
c.405A>C (p.Pro135=)
c.2175A>C (p.Pro725=)
c.1257A>C (p.Pro419=)
n.2808A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51950148T=CA2091542078ATP7Bc.*422A= (n.*422A=)
c.*1333A= (n.*1333A=)
c.2103A= (p.Pro701=)
c.2589A= (p.Pro863=)
c.2256A= (p.Pro752=)
c.2337A= (p.Pro779=)
c.2355A= (p.Pro785=)
c.1659A= (p.Pro553=)
c.1299A= (p.Pro433=)
c.550A=
n.3387A=
n.1934A=
c.2445A= (p.Pro815=)
n.212-3670A=
c.2493A= (p.Pro831=)
c.2553A= (p.Pro851=)
c.405A= (p.Pro135=)
c.2175A= (p.Pro725=)
c.1257A= (p.Pro419=)
n.2808A=

Number of alleles fetched