Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51949669T>ACA388033208ATP7Bc.*691A>T (n.*691A>T)
c.*1602A>T (n.*1602A>T)
c.2244+338A>T (n.2244+338A>T)
c.2858A>T (p.Tyr953Phe)
c.2525A>T (p.Tyr842Phe)
c.2606A>T (p.Tyr869Phe)
c.2624A>T (p.Tyr875Phe)
n.38A>T
c.1800+338A>T (n.1800+338A>T)
c.1568A>T (p.Tyr523Phe)
c.819A>T
n.3609+47A>T
n.2203A>T
c.2714A>T (p.Tyr905Phe)
n.212-3191A>T
c.2762A>T (p.Tyr921Phe)
c.2822A>T (p.Tyr941Phe)
c.2372A>T (p.Tyr791Phe)
c.674A>T (p.Tyr225Phe)
c.2730+338A>T (n.2730+338A>T)
c.2444A>T (p.Tyr815Phe)
c.1526A>T (p.Tyr509Phe)
n.3077A>T
13g.51949669T>CCA388033210ATP7Bc.*691A>G (n.*691A>G)
c.*1602A>G (n.*1602A>G)
c.2244+338A>G (n.2244+338A>G)
c.2858A>G (p.Tyr953Cys)
c.2525A>G (p.Tyr842Cys)
c.2606A>G (p.Tyr869Cys)
c.2624A>G (p.Tyr875Cys)
n.38A>G
c.1800+338A>G (n.1800+338A>G)
c.1568A>G (p.Tyr523Cys)
c.819A>G
n.3609+47A>G
n.2203A>G
c.2714A>G (p.Tyr905Cys)
n.212-3191A>G
c.2762A>G (p.Tyr921Cys)
c.2822A>G (p.Tyr941Cys)
c.2372A>G (p.Tyr791Cys)
c.674A>G (p.Tyr225Cys)
c.2730+338A>G (n.2730+338A>G)
c.2444A>G (p.Tyr815Cys)
c.1526A>G (p.Tyr509Cys)
n.3077A>G
13g.51949669T>GCA6988896ATP7Bc.*691A>C (n.*691A>C)
c.*1602A>C (n.*1602A>C)
c.2244+338A>C (n.2244+338A>C)
c.2858A>C (p.Tyr953Ser)
c.2525A>C (p.Tyr842Ser)
c.2606A>C (p.Tyr869Ser)
c.2624A>C (p.Tyr875Ser)
n.38A>C
c.1800+338A>C (n.1800+338A>C)
c.1568A>C (p.Tyr523Ser)
c.819A>C
n.3609+47A>C
n.2203A>C
c.2714A>C (p.Tyr905Ser)
n.212-3191A>C
c.2762A>C (p.Tyr921Ser)
c.2822A>C (p.Tyr941Ser)
c.2372A>C (p.Tyr791Ser)
c.674A>C (p.Tyr225Ser)
c.2730+338A>C (n.2730+338A>C)
c.2444A>C (p.Tyr815Ser)
c.1526A>C (p.Tyr509Ser)
n.3077A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949669T=CA2091541287ATP7Bc.*691A= (n.*691A=)
c.*1602A= (n.*1602A=)
c.2244+338A= (n.2244+338A=)
c.2858A= (p.Tyr953=)
c.2525A= (p.Tyr842=)
c.2606A= (p.Tyr869=)
c.2624A= (p.Tyr875=)
n.38A=
c.1800+338A= (n.1800+338A=)
c.1568A= (p.Tyr523=)
c.819A=
n.3609+47A=
n.2203A=
c.2714A= (p.Tyr905=)
n.212-3191A=
c.2762A= (p.Tyr921=)
c.2822A= (p.Tyr941=)
c.2372A= (p.Tyr791=)
c.674A= (p.Tyr225=)
c.2730+338A= (n.2730+338A=)
c.2444A= (p.Tyr815=)
c.1526A= (p.Tyr509=)
n.3077A=
13g.51949670A>CCA388033222ATP7Bc.*690T>G (n.*690T>G)
c.*1601T>G (n.*1601T>G)
c.2244+337T>G (n.2244+337T>G)
c.2857T>G (p.Tyr953Asp)
c.2524T>G (p.Tyr842Asp)
c.2605T>G (p.Tyr869Asp)
c.2623T>G (p.Tyr875Asp)
n.37T>G
c.1800+337T>G (n.1800+337T>G)
c.1567T>G (p.Tyr523Asp)
c.818T>G
n.3609+46T>G
n.2202T>G
c.2713T>G (p.Tyr905Asp)
n.212-3192T>G
c.2761T>G (p.Tyr921Asp)
c.2821T>G (p.Tyr941Asp)
c.2371T>G (p.Tyr791Asp)
c.673T>G (p.Tyr225Asp)
c.2730+337T>G (n.2730+337T>G)
c.2443T>G (p.Tyr815Asp)
c.1525T>G (p.Tyr509Asp)
n.3076T>G
13g.51949670A>GCA388033218ATP7Bc.*690T>C (n.*690T>C)
c.*1601T>C (n.*1601T>C)
c.2244+337T>C (n.2244+337T>C)
c.2857T>C (p.Tyr953His)
c.2524T>C (p.Tyr842His)
c.2605T>C (p.Tyr869His)
c.2623T>C (p.Tyr875His)
n.37T>C
c.1800+337T>C (n.1800+337T>C)
c.1567T>C (p.Tyr523His)
c.818T>C
n.3609+46T>C
n.2202T>C
c.2713T>C (p.Tyr905His)
n.212-3192T>C
c.2761T>C (p.Tyr921His)
c.2821T>C (p.Tyr941His)
c.2371T>C (p.Tyr791His)
c.673T>C (p.Tyr225His)
c.2730+337T>C (n.2730+337T>C)
c.2443T>C (p.Tyr815His)
c.1525T>C (p.Tyr509His)
n.3076T>C
13g.51949670A>TCA388033215ATP7Bc.*690T>A (n.*690T>A)
c.*1601T>A (n.*1601T>A)
c.2244+337T>A (n.2244+337T>A)
c.2857T>A (p.Tyr953Asn)
c.2524T>A (p.Tyr842Asn)
c.2605T>A (p.Tyr869Asn)
c.2623T>A (p.Tyr875Asn)
n.37T>A
c.1800+337T>A (n.1800+337T>A)
c.1567T>A (p.Tyr523Asn)
c.818T>A
n.3609+46T>A
n.2202T>A
c.2713T>A (p.Tyr905Asn)
n.212-3192T>A
c.2761T>A (p.Tyr921Asn)
c.2821T>A (p.Tyr941Asn)
c.2371T>A (p.Tyr791Asn)
c.673T>A (p.Tyr225Asn)
c.2730+337T>A (n.2730+337T>A)
c.2443T>A (p.Tyr815Asn)
c.1525T>A (p.Tyr509Asn)
n.3076T>A
13g.51949671T>ACA388033224ATP7Bc.*689A>T (n.*689A>T)
c.*1600A>T (n.*1600A>T)
c.2244+336A>T (n.2244+336A>T)
c.2856A>T (p.Arg952Ser)
c.2523A>T (p.Arg841Ser)
c.2604A>T (p.Arg868Ser)
c.2622A>T (p.Arg874Ser)
n.36A>T
c.1800+336A>T (n.1800+336A>T)
c.1566A>T (p.Arg522Ser)
c.817A>T
n.3609+45A>T
n.2201A>T
c.2712A>T (p.Arg904Ser)
n.212-3193A>T
c.2760A>T (p.Arg920Ser)
c.2820A>T (p.Arg940Ser)
c.2370A>T (p.Arg790Ser)
c.672A>T (p.Arg224Ser)
c.2730+336A>T (n.2730+336A>T)
c.2442A>T (p.Arg814Ser)
c.1524A>T (p.Arg508Ser)
n.3075A>T
13g.51949671T>CCA484024450ATP7Bc.*689A>G (n.*689A>G)
c.*1600A>G (n.*1600A>G)
c.2244+336A>G (n.2244+336A>G)
c.2856A>G (p.Arg952=)
c.2523A>G (p.Arg841=)
c.2604A>G (p.Arg868=)
c.2622A>G (p.Arg874=)
n.36A>G
c.1800+336A>G (n.1800+336A>G)
c.1566A>G (p.Arg522=)
c.817A>G
n.3609+45A>G
n.2201A>G
c.2712A>G (p.Arg904=)
n.212-3193A>G
c.2760A>G (p.Arg920=)
c.2820A>G (p.Arg940=)
c.2370A>G (p.Arg790=)
c.672A>G (p.Arg224=)
c.2730+336A>G (n.2730+336A>G)
c.2442A>G (p.Arg814=)
c.1524A>G (p.Arg508=)
n.3075A>G
13g.51949671T>GCA388033227ATP7Bc.*689A>C (n.*689A>C)
c.*1600A>C (n.*1600A>C)
c.2244+336A>C (n.2244+336A>C)
c.2856A>C (p.Arg952Ser)
c.2523A>C (p.Arg841Ser)
c.2604A>C (p.Arg868Ser)
c.2622A>C (p.Arg874Ser)
n.36A>C
c.1800+336A>C (n.1800+336A>C)
c.1566A>C (p.Arg522Ser)
c.817A>C
n.3609+45A>C
n.2201A>C
c.2712A>C (p.Arg904Ser)
n.212-3193A>C
c.2760A>C (p.Arg920Ser)
c.2820A>C (p.Arg940Ser)
c.2370A>C (p.Arg790Ser)
c.672A>C (p.Arg224Ser)
c.2730+336A>C (n.2730+336A>C)
c.2442A>C (p.Arg814Ser)
c.1524A>C (p.Arg508Ser)
n.3075A>C
13g.51949672_51949675delCA2695218777ATP7Bc.*686_*689del (n.*686_*689del)
c.*1597_*1600del (n.*1597_*1600del)
c.2244+333_2244+336del (n.2244+333_2244+336del)
c.2853_2856del (p.Gln951HisfsTer15)
c.2520_2523del (p.Gln840HisfsTer15)
c.2601_2604del (p.Gln867HisfsTer15)
c.2619_2622del (p.Gln873HisfsTer15)
n.33_36del
c.1800+333_1800+336del (n.1800+333_1800+336del)
c.1563_1566del (p.Gln521HisfsTer15)
c.2853_2856del (p.Gln951HisfsTer5)
c.814_817del
c.2619_2622del (p.Gln873HisfsTer10)
n.3609+42_3609+45del
n.2198_2201del
c.2709_2712del (p.Gln903HisfsTer15)
n.212-3196_212-3193del
c.2757_2760del (p.Gln919HisfsTer15)
c.2817_2820del (p.Gln939HisfsTer15)
c.2367_2370del (p.Gln789HisfsTer15)
c.669_672del (p.Gln223HisfsTer15)
c.2730+333_2730+336del (n.2730+333_2730+336del)
c.2439_2442del (p.Gln813HisfsTer15)
c.1521_1524del (p.Gln507HisfsTer15)
n.3072_3075del
13g.51949672C>ACA388033231ATP7Bc.*688G>T (n.*688G>T)
c.*1599G>T (n.*1599G>T)
c.2244+335G>T (n.2244+335G>T)
c.2855G>T (p.Arg952Ile)
c.2522G>T (p.Arg841Ile)
c.2603G>T (p.Arg868Ile)
c.2621G>T (p.Arg874Ile)
n.35G>T
c.1800+335G>T (n.1800+335G>T)
c.1565G>T (p.Arg522Ile)
c.816G>T
n.3609+44G>T
n.2200G>T
c.2711G>T (p.Arg904Ile)
n.212-3194G>T
c.2759G>T (p.Arg920Ile)
c.2819G>T (p.Arg940Ile)
c.2369G>T (p.Arg790Ile)
c.671G>T (p.Arg224Ile)
c.2730+335G>T (n.2730+335G>T)
c.2441G>T (p.Arg814Ile)
c.1523G>T (p.Arg508Ile)
n.3074G>T
13g.51949672C=CA2091541294ATP7Bc.*688G= (n.*688G=)
c.*1599G= (n.*1599G=)
c.2244+335G= (n.2244+335G=)
c.2855G= (p.Arg952=)
c.2522G= (p.Arg841=)
c.2603G= (p.Arg868=)
c.2621G= (p.Arg874=)
n.35G=
c.1800+335G= (n.1800+335G=)
c.1565G= (p.Arg522=)
c.816G=
n.3609+44G=
n.2200G=
c.2711G= (p.Arg904=)
n.212-3194G=
c.2759G= (p.Arg920=)
c.2819G= (p.Arg940=)
c.2369G= (p.Arg790=)
c.671G= (p.Arg224=)
c.2730+335G= (n.2730+335G=)
c.2441G= (p.Arg814=)
c.1523G= (p.Arg508=)
n.3074G=
13g.51949672C>GCA388033235ATP7Bc.*688G>C (n.*688G>C)
c.*1599G>C (n.*1599G>C)
c.2244+335G>C (n.2244+335G>C)
c.2855G>C (p.Arg952Thr)
c.2522G>C (p.Arg841Thr)
c.2603G>C (p.Arg868Thr)
c.2621G>C (p.Arg874Thr)
n.35G>C
c.1800+335G>C (n.1800+335G>C)
c.1565G>C (p.Arg522Thr)
c.816G>C
n.3609+44G>C
n.2200G>C
c.2711G>C (p.Arg904Thr)
n.212-3194G>C
c.2759G>C (p.Arg920Thr)
c.2819G>C (p.Arg940Thr)
c.2369G>C (p.Arg790Thr)
c.671G>C (p.Arg224Thr)
c.2730+335G>C (n.2730+335G>C)
c.2441G>C (p.Arg814Thr)
c.1523G>C (p.Arg508Thr)
n.3074G>C
13g.51949672C>TCA145676ATP7Bc.*688G>A (n.*688G>A)
c.*1599G>A (n.*1599G>A)
c.2244+335G>A (n.2244+335G>A)
c.2855G>A (p.Arg952Lys)
c.2522G>A (p.Arg841Lys)
c.2603G>A (p.Arg868Lys)
c.2621G>A (p.Arg874Lys)
n.35G>A
c.1800+335G>A (n.1800+335G>A)
c.1565G>A (p.Arg522Lys)
c.816G>A
n.3609+44G>A
n.2200G>A
c.2711G>A (p.Arg904Lys)
n.212-3194G>A
c.2759G>A (p.Arg920Lys)
c.2819G>A (p.Arg940Lys)
c.2369G>A (p.Arg790Lys)
c.671G>A (p.Arg224Lys)
c.2730+335G>A (n.2730+335G>A)
c.2441G>A (p.Arg814Lys)
c.1523G>A (p.Arg508Lys)
n.3074G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949673T>ACA388033239ATP7Bc.*687A>T (n.*687A>T)
c.*1598A>T (n.*1598A>T)
c.2244+334A>T (n.2244+334A>T)
c.2854A>T (p.Arg952Ter)
c.2521A>T (p.Arg841Ter)
c.2602A>T (p.Arg868Ter)
c.2620A>T (p.Arg874Ter)
n.34A>T
c.1800+334A>T (n.1800+334A>T)
c.1564A>T (p.Arg522Ter)
c.815A>T
n.3609+43A>T
n.2199A>T
c.2710A>T (p.Arg904Ter)
n.212-3195A>T
c.2758A>T (p.Arg920Ter)
c.2818A>T (p.Arg940Ter)
c.2368A>T (p.Arg790Ter)
c.670A>T (p.Arg224Ter)
c.2730+334A>T (n.2730+334A>T)
c.2440A>T (p.Arg814Ter)
c.1522A>T (p.Arg508Ter)
n.3073A>T
13g.51949673T>CCA388033241ATP7Bc.*687A>G (n.*687A>G)
c.*1598A>G (n.*1598A>G)
c.2244+334A>G (n.2244+334A>G)
c.2854A>G (p.Arg952Gly)
c.2521A>G (p.Arg841Gly)
c.2602A>G (p.Arg868Gly)
c.2620A>G (p.Arg874Gly)
n.34A>G
c.1800+334A>G (n.1800+334A>G)
c.1564A>G (p.Arg522Gly)
c.815A>G
n.3609+43A>G
n.2199A>G
c.2710A>G (p.Arg904Gly)
n.212-3195A>G
c.2758A>G (p.Arg920Gly)
c.2818A>G (p.Arg940Gly)
c.2368A>G (p.Arg790Gly)
c.670A>G (p.Arg224Gly)
c.2730+334A>G (n.2730+334A>G)
c.2440A>G (p.Arg814Gly)
c.1522A>G (p.Arg508Gly)
n.3073A>G
13g.51949673T>GCA484024451ATP7Bc.*687A>C (n.*687A>C)
c.*1598A>C (n.*1598A>C)
c.2244+334A>C (n.2244+334A>C)
c.2854A>C (p.Arg952=)
c.2521A>C (p.Arg841=)
c.2602A>C (p.Arg868=)
c.2620A>C (p.Arg874=)
n.34A>C
c.1800+334A>C (n.1800+334A>C)
c.1564A>C (p.Arg522=)
c.815A>C
n.3609+43A>C
n.2199A>C
c.2710A>C (p.Arg904=)
n.212-3195A>C
c.2758A>C (p.Arg920=)
c.2818A>C (p.Arg940=)
c.2368A>C (p.Arg790=)
c.670A>C (p.Arg224=)
c.2730+334A>C (n.2730+334A>C)
c.2440A>C (p.Arg814=)
c.1522A>C (p.Arg508=)
n.3073A>C
13g.51949674C>ACA388033243ATP7Bc.*686G>T (n.*686G>T)
c.*1597G>T (n.*1597G>T)
c.2244+333G>T (n.2244+333G>T)
c.2853G>T (p.Gln951His)
c.2520G>T (p.Gln840His)
c.2601G>T (p.Gln867His)
c.2619G>T (p.Gln873His)
n.33G>T
c.1800+333G>T (n.1800+333G>T)
c.1563G>T (p.Gln521His)
c.814G>T
n.3609+42G>T
n.2198G>T
c.2709G>T (p.Gln903His)
n.212-3196G>T
c.2757G>T (p.Gln919His)
c.2817G>T (p.Gln939His)
c.2367G>T (p.Gln789His)
c.669G>T (p.Gln223His)
c.2730+333G>T (n.2730+333G>T)
c.2439G>T (p.Gln813His)
c.1521G>T (p.Gln507His)
n.3072G>T
13g.51949674C>GCA388033244ATP7Bc.*686G>C (n.*686G>C)
c.*1597G>C (n.*1597G>C)
c.2244+333G>C (n.2244+333G>C)
c.2853G>C (p.Gln951His)
c.2520G>C (p.Gln840His)
c.2601G>C (p.Gln867His)
c.2619G>C (p.Gln873His)
n.33G>C
c.1800+333G>C (n.1800+333G>C)
c.1563G>C (p.Gln521His)
c.814G>C
n.3609+42G>C
n.2198G>C
c.2709G>C (p.Gln903His)
n.212-3196G>C
c.2757G>C (p.Gln919His)
c.2817G>C (p.Gln939His)
c.2367G>C (p.Gln789His)
c.669G>C (p.Gln223His)
c.2730+333G>C (n.2730+333G>C)
c.2439G>C (p.Gln813His)
c.1521G>C (p.Gln507His)
n.3072G>C
13g.51949674C>TCA484024452ATP7Bc.*686G>A (n.*686G>A)
c.*1597G>A (n.*1597G>A)
c.2244+333G>A (n.2244+333G>A)
c.2853G>A (p.Gln951=)
c.2520G>A (p.Gln840=)
c.2601G>A (p.Gln867=)
c.2619G>A (p.Gln873=)
n.33G>A
c.1800+333G>A (n.1800+333G>A)
c.1563G>A (p.Gln521=)
c.814G>A
n.3609+42G>A
n.2198G>A
c.2709G>A (p.Gln903=)
n.212-3196G>A
c.2757G>A (p.Gln919=)
c.2817G>A (p.Gln939=)
c.2367G>A (p.Gln789=)
c.669G>A (p.Gln223=)
c.2730+333G>A (n.2730+333G>A)
c.2439G>A (p.Gln813=)
c.1521G>A (p.Gln507=)
n.3072G>A
13g.51949675T>ACA388033247ATP7Bc.*685A>T (n.*685A>T)
c.*1596A>T (n.*1596A>T)
c.2244+332A>T (n.2244+332A>T)
c.2852A>T (p.Gln951Leu)
c.2519A>T (p.Gln840Leu)
c.2600A>T (p.Gln867Leu)
c.2618A>T (p.Gln873Leu)
n.32A>T
c.1800+332A>T (n.1800+332A>T)
c.1562A>T (p.Gln521Leu)
c.813A>T
n.3609+41A>T
n.2197A>T
c.2708A>T (p.Gln903Leu)
n.212-3197A>T
c.2756A>T (p.Gln919Leu)
c.2816A>T (p.Gln939Leu)
c.2366A>T (p.Gln789Leu)
c.668A>T (p.Gln223Leu)
c.2730+332A>T (n.2730+332A>T)
c.2438A>T (p.Gln813Leu)
c.1520A>T (p.Gln507Leu)
n.3071A>T
13g.51949675T>CCA388033250ATP7Bc.*685A>G (n.*685A>G)
c.*1596A>G (n.*1596A>G)
c.2244+332A>G (n.2244+332A>G)
c.2852A>G (p.Gln951Arg)
c.2519A>G (p.Gln840Arg)
c.2600A>G (p.Gln867Arg)
c.2618A>G (p.Gln873Arg)
n.32A>G
c.1800+332A>G (n.1800+332A>G)
c.1562A>G (p.Gln521Arg)
c.813A>G
n.3609+41A>G
n.2197A>G
c.2708A>G (p.Gln903Arg)
n.212-3197A>G
c.2756A>G (p.Gln919Arg)
c.2816A>G (p.Gln939Arg)
c.2366A>G (p.Gln789Arg)
c.668A>G (p.Gln223Arg)
c.2730+332A>G (n.2730+332A>G)
c.2438A>G (p.Gln813Arg)
c.1520A>G (p.Gln507Arg)
n.3071A>G
13g.51949675T>GCA388033253ATP7Bc.*685A>C (n.*685A>C)
c.*1596A>C (n.*1596A>C)
c.2244+332A>C (n.2244+332A>C)
c.2852A>C (p.Gln951Pro)
c.2519A>C (p.Gln840Pro)
c.2600A>C (p.Gln867Pro)
c.2618A>C (p.Gln873Pro)
n.32A>C
c.1800+332A>C (n.1800+332A>C)
c.1562A>C (p.Gln521Pro)
c.813A>C
n.3609+41A>C
n.2197A>C
c.2708A>C (p.Gln903Pro)
n.212-3197A>C
c.2756A>C (p.Gln919Pro)
c.2816A>C (p.Gln939Pro)
c.2366A>C (p.Gln789Pro)
c.668A>C (p.Gln223Pro)
c.2730+332A>C (n.2730+332A>C)
c.2438A>C (p.Gln813Pro)
c.1520A>C (p.Gln507Pro)
n.3071A>C
13g.51949676G>ACA388033268ATP7Bc.*684C>T (n.*684C>T)
c.*1595C>T (n.*1595C>T)
c.2244+331C>T (n.2244+331C>T)
c.2851C>T (p.Gln951Ter)
c.2518C>T (p.Gln840Ter)
c.2599C>T (p.Gln867Ter)
c.2617C>T (p.Gln873Ter)
n.31C>T
c.1800+331C>T (n.1800+331C>T)
c.1561C>T (p.Gln521Ter)
c.812C>T
n.3609+40C>T
n.2196C>T
c.2707C>T (p.Gln903Ter)
n.212-3198C>T
c.2755C>T (p.Gln919Ter)
c.2815C>T (p.Gln939Ter)
c.2365C>T (p.Gln789Ter)
c.667C>T (p.Gln223Ter)
c.2730+331C>T (n.2730+331C>T)
c.2437C>T (p.Gln813Ter)
c.1519C>T (p.Gln507Ter)
n.3070C>T
 ClinVar
13g.51949676G>CCA388033265ATP7Bc.*684C>G (n.*684C>G)
c.*1595C>G (n.*1595C>G)
c.2244+331C>G (n.2244+331C>G)
c.2851C>G (p.Gln951Glu)
c.2518C>G (p.Gln840Glu)
c.2599C>G (p.Gln867Glu)
c.2617C>G (p.Gln873Glu)
n.31C>G
c.1800+331C>G (n.1800+331C>G)
c.1561C>G (p.Gln521Glu)
c.812C>G
n.3609+40C>G
n.2196C>G
c.2707C>G (p.Gln903Glu)
n.212-3198C>G
c.2755C>G (p.Gln919Glu)
c.2815C>G (p.Gln939Glu)
c.2365C>G (p.Gln789Glu)
c.667C>G (p.Gln223Glu)
c.2730+331C>G (n.2730+331C>G)
c.2437C>G (p.Gln813Glu)
c.1519C>G (p.Gln507Glu)
n.3070C>G
13g.51949676G>TCA388033261ATP7Bc.*684C>A (n.*684C>A)
c.*1595C>A (n.*1595C>A)
c.2244+331C>A (n.2244+331C>A)
c.2851C>A (p.Gln951Lys)
c.2518C>A (p.Gln840Lys)
c.2599C>A (p.Gln867Lys)
c.2617C>A (p.Gln873Lys)
n.31C>A
c.1800+331C>A (n.1800+331C>A)
c.1561C>A (p.Gln521Lys)
c.812C>A
n.3609+40C>A
n.2196C>A
c.2707C>A (p.Gln903Lys)
n.212-3198C>A
c.2755C>A (p.Gln919Lys)
c.2815C>A (p.Gln939Lys)
c.2365C>A (p.Gln789Lys)
c.667C>A (p.Gln223Lys)
c.2730+331C>A (n.2730+331C>A)
c.2437C>A (p.Gln813Lys)
c.1519C>A (p.Gln507Lys)
n.3070C>A
13g.51949676_51949679delCA912974799ATP7Bc.*681_*684del (n.*681_*684del)
c.*1592_*1595del (n.*1592_*1595del)
c.2244+328_2244+331del (n.2244+328_2244+331del)
c.2848_2851del (p.Val950ArgfsTer16)
c.2515_2518del (p.Val839ArgfsTer16)
c.2596_2599del (p.Val866ArgfsTer16)
c.2614_2617del (p.Val872ArgfsTer16)
n.28_31del
c.1800+328_1800+331del (n.1800+328_1800+331del)
c.1558_1561del (p.Val520ArgfsTer16)
c.2848_2851del (p.Val950ArgfsTer6)
c.809_812del
c.2614_2617del (p.Val872ArgfsTer11)
n.3609+37_3609+40del
n.2193_2196del
c.2704_2707del (p.Val902ArgfsTer16)
n.212-3201_212-3198del
c.2752_2755del (p.Val918ArgfsTer16)
c.2812_2815del (p.Val938ArgfsTer16)
c.2362_2365del (p.Val788ArgfsTer16)
c.664_667del (p.Val222ArgfsTer16)
c.2730+328_2730+331del (n.2730+328_2730+331del)
c.2434_2437del (p.Val812ArgfsTer16)
c.1516_1519del (p.Val506ArgfsTer16)
n.3067_3070del
13g.51949676_51949679delinsGAACCA2091541298ATP7Bc.*681_*684delinsGTTC (n.*681_*684delinsGTTC)
c.*1592_*1595delinsGTTC (n.*1592_*1595delinsGTTC)
c.2244+328_2244+331delinsGTTC (n.2244+328_2244+331delinsGTTC)
c.2848_2851delinsGTTC (p.Val950=)
c.2515_2518delinsGTTC (p.Val839=)
c.2596_2599delinsGTTC (p.Val866=)
c.2614_2617delinsGTTC (p.Val872=)
n.28_31delinsGTTC
c.1800+328_1800+331delinsGTTC (n.1800+328_1800+331delinsGTTC)
c.1558_1561delinsGTTC (p.Val520=)
c.809_812delinsGTTC
n.3609+37_3609+40delinsGTTC
n.2193_2196delinsGTTC
c.2704_2707delinsGTTC (p.Val902=)
n.212-3201_212-3198delinsGTTC
c.2752_2755delinsGTTC (p.Val918=)
c.2812_2815delinsGTTC (p.Val938=)
c.2362_2365delinsGTTC (p.Val788=)
c.664_667delinsGTTC (p.Val222=)
c.2730+328_2730+331delinsGTTC (n.2730+328_2730+331delinsGTTC)
c.2434_2437delinsGTTC (p.Val812=)
c.1516_1519delinsGTTC (p.Val506=)
n.3067_3070delinsGTTC
13g.51949677A>CCA484024453ATP7Bc.*683T>G (n.*683T>G)
c.*1594T>G (n.*1594T>G)
c.2244+330T>G (n.2244+330T>G)
c.2850T>G (p.Val950=)
c.2517T>G (p.Val839=)
c.2598T>G (p.Val866=)
c.2616T>G (p.Val872=)
n.30T>G
c.1800+330T>G (n.1800+330T>G)
c.1560T>G (p.Val520=)
c.811T>G
n.3609+39T>G
n.2195T>G
c.2706T>G (p.Val902=)
n.212-3199T>G
c.2754T>G (p.Val918=)
c.2814T>G (p.Val938=)
c.2364T>G (p.Val788=)
c.666T>G (p.Val222=)
c.2730+330T>G (n.2730+330T>G)
c.2436T>G (p.Val812=)
c.1518T>G (p.Val506=)
n.3069T>G
13g.51949677A>GCA484024454ATP7Bc.*683T>C (n.*683T>C)
c.*1594T>C (n.*1594T>C)
c.2244+330T>C (n.2244+330T>C)
c.2850T>C (p.Val950=)
c.2517T>C (p.Val839=)
c.2598T>C (p.Val866=)
c.2616T>C (p.Val872=)
n.30T>C
c.1800+330T>C (n.1800+330T>C)
c.1560T>C (p.Val520=)
c.811T>C
n.3609+39T>C
n.2195T>C
c.2706T>C (p.Val902=)
n.212-3199T>C
c.2754T>C (p.Val918=)
c.2814T>C (p.Val938=)
c.2364T>C (p.Val788=)
c.666T>C (p.Val222=)
c.2730+330T>C (n.2730+330T>C)
c.2436T>C (p.Val812=)
c.1518T>C (p.Val506=)
n.3069T>C
13g.51949677A>TCA484024455ATP7Bc.*683T>A (n.*683T>A)
c.*1594T>A (n.*1594T>A)
c.2244+330T>A (n.2244+330T>A)
c.2850T>A (p.Val950=)
c.2517T>A (p.Val839=)
c.2598T>A (p.Val866=)
c.2616T>A (p.Val872=)
n.30T>A
c.1800+330T>A (n.1800+330T>A)
c.1560T>A (p.Val520=)
c.811T>A
n.3609+39T>A
n.2195T>A
c.2706T>A (p.Val902=)
n.212-3199T>A
c.2754T>A (p.Val918=)
c.2814T>A (p.Val938=)
c.2364T>A (p.Val788=)
c.666T>A (p.Val222=)
c.2730+330T>A (n.2730+330T>A)
c.2436T>A (p.Val812=)
c.1518T>A (p.Val506=)
n.3069T>A
13g.51949681_51949683delCA610425773ATP7Bc.*681_*683del (n.*681_*683del)
c.*1592_*1594del (n.*1592_*1594del)
c.2244+328_2244+330del (n.2244+328_2244+330del)
c.2848_2850del (p.Val950del)
c.2515_2517del (p.Val839del)
c.2596_2598del (p.Val866del)
c.2614_2616del (p.Val872del)
n.28_30del
c.1800+328_1800+330del (n.1800+328_1800+330del)
c.1558_1560del (p.Val520del)
c.809_811del
n.3609+37_3609+39del
n.2193_2195del
c.2704_2706del (p.Val902del)
n.212-3201_212-3199del
c.2752_2754del (p.Val918del)
c.2812_2814del (p.Val938del)
c.2362_2364del (p.Val788del)
c.664_666del (p.Val222del)
c.2730+328_2730+330del (n.2730+328_2730+330del)
c.2434_2436del (p.Val812del)
c.1516_1518del (p.Val506del)
n.3067_3069del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949678A>CCA388033274ATP7Bc.*682T>G (n.*682T>G)
c.*1593T>G (n.*1593T>G)
c.2244+329T>G (n.2244+329T>G)
c.2849T>G (p.Val950Gly)
c.2516T>G (p.Val839Gly)
c.2597T>G (p.Val866Gly)
c.2615T>G (p.Val872Gly)
n.29T>G
c.1800+329T>G (n.1800+329T>G)
c.1559T>G (p.Val520Gly)
c.810T>G
n.3609+38T>G
n.2194T>G
c.2705T>G (p.Val902Gly)
n.212-3200T>G
c.2753T>G (p.Val918Gly)
c.2813T>G (p.Val938Gly)
c.2363T>G (p.Val788Gly)
c.665T>G (p.Val222Gly)
c.2730+329T>G (n.2730+329T>G)
c.2435T>G (p.Val812Gly)
c.1517T>G (p.Val506Gly)
n.3068T>G
13g.51949678A>GCA388033276ATP7Bc.*682T>C (n.*682T>C)
c.*1593T>C (n.*1593T>C)
c.2244+329T>C (n.2244+329T>C)
c.2849T>C (p.Val950Ala)
c.2516T>C (p.Val839Ala)
c.2597T>C (p.Val866Ala)
c.2615T>C (p.Val872Ala)
n.29T>C
c.1800+329T>C (n.1800+329T>C)
c.1559T>C (p.Val520Ala)
c.810T>C
n.3609+38T>C
n.2194T>C
c.2705T>C (p.Val902Ala)
n.212-3200T>C
c.2753T>C (p.Val918Ala)
c.2813T>C (p.Val938Ala)
c.2363T>C (p.Val788Ala)
c.665T>C (p.Val222Ala)
c.2730+329T>C (n.2730+329T>C)
c.2435T>C (p.Val812Ala)
c.1517T>C (p.Val506Ala)
n.3068T>C
 gnomAD v4
13g.51949678A>TCA388033278ATP7Bc.*682T>A (n.*682T>A)
c.*1593T>A (n.*1593T>A)
c.2244+329T>A (n.2244+329T>A)
c.2849T>A (p.Val950Asp)
c.2516T>A (p.Val839Asp)
c.2597T>A (p.Val866Asp)
c.2615T>A (p.Val872Asp)
n.29T>A
c.1800+329T>A (n.1800+329T>A)
c.1559T>A (p.Val520Asp)
c.810T>A
n.3609+38T>A
n.2194T>A
c.2705T>A (p.Val902Asp)
n.212-3200T>A
c.2753T>A (p.Val918Asp)
c.2813T>A (p.Val938Asp)
c.2363T>A (p.Val788Asp)
c.665T>A (p.Val222Asp)
c.2730+329T>A (n.2730+329T>A)
c.2435T>A (p.Val812Asp)
c.1517T>A (p.Val506Asp)
n.3068T>A
13g.51949679C>ACA388033283ATP7Bc.*681G>T (n.*681G>T)
c.*1592G>T (n.*1592G>T)
c.2244+328G>T (n.2244+328G>T)
c.2848G>T (p.Val950Phe)
c.2515G>T (p.Val839Phe)
c.2596G>T (p.Val866Phe)
c.2614G>T (p.Val872Phe)
n.28G>T
c.1800+328G>T (n.1800+328G>T)
c.1558G>T (p.Val520Phe)
c.809G>T
n.3609+37G>T
n.2193G>T
c.2704G>T (p.Val902Phe)
n.212-3201G>T
c.2752G>T (p.Val918Phe)
c.2812G>T (p.Val938Phe)
c.2362G>T (p.Val788Phe)
c.664G>T (p.Val222Phe)
c.2730+328G>T (n.2730+328G>T)
c.2434G>T (p.Val812Phe)
c.1516G>T (p.Val506Phe)
n.3067G>T
13g.51949679C>GCA388033288ATP7Bc.*681G>C (n.*681G>C)
c.*1592G>C (n.*1592G>C)
c.2244+328G>C (n.2244+328G>C)
c.2848G>C (p.Val950Leu)
c.2515G>C (p.Val839Leu)
c.2596G>C (p.Val866Leu)
c.2614G>C (p.Val872Leu)
n.28G>C
c.1800+328G>C (n.1800+328G>C)
c.1558G>C (p.Val520Leu)
c.809G>C
n.3609+37G>C
n.2193G>C
c.2704G>C (p.Val902Leu)
n.212-3201G>C
c.2752G>C (p.Val918Leu)
c.2812G>C (p.Val938Leu)
c.2362G>C (p.Val788Leu)
c.664G>C (p.Val222Leu)
c.2730+328G>C (n.2730+328G>C)
c.2434G>C (p.Val812Leu)
c.1516G>C (p.Val506Leu)
n.3067G>C
13g.51949679C>TCA388033292ATP7Bc.*681G>A (n.*681G>A)
c.*1592G>A (n.*1592G>A)
c.2244+328G>A (n.2244+328G>A)
c.2848G>A (p.Val950Ile)
c.2515G>A (p.Val839Ile)
c.2596G>A (p.Val866Ile)
c.2614G>A (p.Val872Ile)
n.28G>A
c.1800+328G>A (n.1800+328G>A)
c.1558G>A (p.Val520Ile)
c.809G>A
n.3609+37G>A
n.2193G>A
c.2704G>A (p.Val902Ile)
n.212-3201G>A
c.2752G>A (p.Val918Ile)
c.2812G>A (p.Val938Ile)
c.2362G>A (p.Val788Ile)
c.664G>A (p.Val222Ile)
c.2730+328G>A (n.2730+328G>A)
c.2434G>A (p.Val812Ile)
c.1516G>A (p.Val506Ile)
n.3067G>A
 gnomAD v4
13g.51949680A=CA2091541306ATP7Bc.*680T= (n.*680T=)
c.*1591T= (n.*1591T=)
c.2244+327T= (n.2244+327T=)
c.2847T= (p.Val949=)
c.2514T= (p.Val838=)
c.2595T= (p.Val865=)
c.2613T= (p.Val871=)
n.27T=
c.1800+327T= (n.1800+327T=)
c.1557T= (p.Val519=)
c.808T=
n.3609+36T=
n.2192T=
c.2703T= (p.Val901=)
n.212-3202T=
c.2751T= (p.Val917=)
c.2811T= (p.Val937=)
c.2361T= (p.Val787=)
c.663T= (p.Val221=)
c.2730+327T= (n.2730+327T=)
c.2433T= (p.Val811=)
c.1515T= (p.Val505=)
n.3066T=
13g.51949680A>CCA484024456ATP7Bc.*680T>G (n.*680T>G)
c.*1591T>G (n.*1591T>G)
c.2244+327T>G (n.2244+327T>G)
c.2847T>G (p.Val949=)
c.2514T>G (p.Val838=)
c.2595T>G (p.Val865=)
c.2613T>G (p.Val871=)
n.27T>G
c.1800+327T>G (n.1800+327T>G)
c.1557T>G (p.Val519=)
c.808T>G
n.3609+36T>G
n.2192T>G
c.2703T>G (p.Val901=)
n.212-3202T>G
c.2751T>G (p.Val917=)
c.2811T>G (p.Val937=)
c.2361T>G (p.Val787=)
c.663T>G (p.Val221=)
c.2730+327T>G (n.2730+327T>G)
c.2433T>G (p.Val811=)
c.1515T>G (p.Val505=)
n.3066T>G
13g.51949680A>GCA484024457ATP7Bc.*680T>C (n.*680T>C)
c.*1591T>C (n.*1591T>C)
c.2244+327T>C (n.2244+327T>C)
c.2847T>C (p.Val949=)
c.2514T>C (p.Val838=)
c.2595T>C (p.Val865=)
c.2613T>C (p.Val871=)
n.27T>C
c.1800+327T>C (n.1800+327T>C)
c.1557T>C (p.Val519=)
c.808T>C
n.3609+36T>C
n.2192T>C
c.2703T>C (p.Val901=)
n.212-3202T>C
c.2751T>C (p.Val917=)
c.2811T>C (p.Val937=)
c.2361T>C (p.Val787=)
c.663T>C (p.Val221=)
c.2730+327T>C (n.2730+327T>C)
c.2433T>C (p.Val811=)
c.1515T>C (p.Val505=)
n.3066T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51949680A>TCA484024458ATP7Bc.*680T>A (n.*680T>A)
c.*1591T>A (n.*1591T>A)
c.2244+327T>A (n.2244+327T>A)
c.2847T>A (p.Val949=)
c.2514T>A (p.Val838=)
c.2595T>A (p.Val865=)
c.2613T>A (p.Val871=)
n.27T>A
c.1800+327T>A (n.1800+327T>A)
c.1557T>A (p.Val519=)
c.808T>A
n.3609+36T>A
n.2192T>A
c.2703T>A (p.Val901=)
n.212-3202T>A
c.2751T>A (p.Val917=)
c.2811T>A (p.Val937=)
c.2361T>A (p.Val787=)
c.663T>A (p.Val221=)
c.2730+327T>A (n.2730+327T>A)
c.2433T>A (p.Val811=)
c.1515T>A (p.Val505=)
n.3066T>A
13g.51949681A=CA2091541310ATP7Bc.*679T= (n.*679T=)
c.*1590T= (n.*1590T=)
c.2244+326T= (n.2244+326T=)
c.2846T= (p.Val949=)
c.2513T= (p.Val838=)
c.2594T= (p.Val865=)
c.2612T= (p.Val871=)
n.26T=
c.1800+326T= (n.1800+326T=)
c.1556T= (p.Val519=)
c.807T=
n.3609+35T=
n.2191T=
c.2702T= (p.Val901=)
n.212-3203T=
c.2750T= (p.Val917=)
c.2810T= (p.Val937=)
c.2360T= (p.Val787=)
c.662T= (p.Val221=)
c.2730+326T= (n.2730+326T=)
c.2432T= (p.Val811=)
c.1514T= (p.Val505=)
n.3065T=
13g.51949681A>CCA388033295ATP7Bc.*679T>G (n.*679T>G)
c.*1590T>G (n.*1590T>G)
c.2244+326T>G (n.2244+326T>G)
c.2846T>G (p.Val949Gly)
c.2513T>G (p.Val838Gly)
c.2594T>G (p.Val865Gly)
c.2612T>G (p.Val871Gly)
n.26T>G
c.1800+326T>G (n.1800+326T>G)
c.1556T>G (p.Val519Gly)
c.807T>G
n.3609+35T>G
n.2191T>G
c.2702T>G (p.Val901Gly)
n.212-3203T>G
c.2750T>G (p.Val917Gly)
c.2810T>G (p.Val937Gly)
c.2360T>G (p.Val787Gly)
c.662T>G (p.Val221Gly)
c.2730+326T>G (n.2730+326T>G)
c.2432T>G (p.Val811Gly)
c.1514T>G (p.Val505Gly)
n.3065T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949681A>GCA388033298ATP7Bc.*679T>C (n.*679T>C)
c.*1590T>C (n.*1590T>C)
c.2244+326T>C (n.2244+326T>C)
c.2846T>C (p.Val949Ala)
c.2513T>C (p.Val838Ala)
c.2594T>C (p.Val865Ala)
c.2612T>C (p.Val871Ala)
n.26T>C
c.1800+326T>C (n.1800+326T>C)
c.1556T>C (p.Val519Ala)
c.807T>C
n.3609+35T>C
n.2191T>C
c.2702T>C (p.Val901Ala)
n.212-3203T>C
c.2750T>C (p.Val917Ala)
c.2810T>C (p.Val937Ala)
c.2360T>C (p.Val787Ala)
c.662T>C (p.Val221Ala)
c.2730+326T>C (n.2730+326T>C)
c.2432T>C (p.Val811Ala)
c.1514T>C (p.Val505Ala)
n.3065T>C
13g.51949681A>TCA388033302ATP7Bc.*679T>A (n.*679T>A)
c.*1590T>A (n.*1590T>A)
c.2244+326T>A (n.2244+326T>A)
c.2846T>A (p.Val949Asp)
c.2513T>A (p.Val838Asp)
c.2594T>A (p.Val865Asp)
c.2612T>A (p.Val871Asp)
n.26T>A
c.1800+326T>A (n.1800+326T>A)
c.1556T>A (p.Val519Asp)
c.807T>A
n.3609+35T>A
n.2191T>A
c.2702T>A (p.Val901Asp)
n.212-3203T>A
c.2750T>A (p.Val917Asp)
c.2810T>A (p.Val937Asp)
c.2360T>A (p.Val787Asp)
c.662T>A (p.Val221Asp)
c.2730+326T>A (n.2730+326T>A)
c.2432T>A (p.Val811Asp)
c.1514T>A (p.Val505Asp)
n.3065T>A
13g.51949682C>ACA388033305ATP7Bc.*678G>T (n.*678G>T)
c.*1589G>T (n.*1589G>T)
c.2244+325G>T (n.2244+325G>T)
c.2845G>T (p.Val949Phe)
c.2512G>T (p.Val838Phe)
c.2593G>T (p.Val865Phe)
c.2611G>T (p.Val871Phe)
n.25G>T
c.1800+325G>T (n.1800+325G>T)
c.1555G>T (p.Val519Phe)
c.806G>T
n.3609+34G>T
n.2190G>T
c.2701G>T (p.Val901Phe)
n.212-3204G>T
c.2749G>T (p.Val917Phe)
c.2809G>T (p.Val937Phe)
c.2359G>T (p.Val787Phe)
c.661G>T (p.Val221Phe)
c.2730+325G>T (n.2730+325G>T)
c.2431G>T (p.Val811Phe)
c.1513G>T (p.Val505Phe)
n.3064G>T
13g.51949682C>GCA388033306ATP7Bc.*678G>C (n.*678G>C)
c.*1589G>C (n.*1589G>C)
c.2244+325G>C (n.2244+325G>C)
c.2845G>C (p.Val949Leu)
c.2512G>C (p.Val838Leu)
c.2593G>C (p.Val865Leu)
c.2611G>C (p.Val871Leu)
n.25G>C
c.1800+325G>C (n.1800+325G>C)
c.1555G>C (p.Val519Leu)
c.806G>C
n.3609+34G>C
n.2190G>C
c.2701G>C (p.Val901Leu)
n.212-3204G>C
c.2749G>C (p.Val917Leu)
c.2809G>C (p.Val937Leu)
c.2359G>C (p.Val787Leu)
c.661G>C (p.Val221Leu)
c.2730+325G>C (n.2730+325G>C)
c.2431G>C (p.Val811Leu)
c.1513G>C (p.Val505Leu)
n.3064G>C
13g.51949682C>TCA388033309ATP7Bc.*678G>A (n.*678G>A)
c.*1589G>A (n.*1589G>A)
c.2244+325G>A (n.2244+325G>A)
c.2845G>A (p.Val949Ile)
c.2512G>A (p.Val838Ile)
c.2593G>A (p.Val865Ile)
c.2611G>A (p.Val871Ile)
n.25G>A
c.1800+325G>A (n.1800+325G>A)
c.1555G>A (p.Val519Ile)
c.806G>A
n.3609+34G>A
n.2190G>A
c.2701G>A (p.Val901Ile)
n.212-3204G>A
c.2749G>A (p.Val917Ile)
c.2809G>A (p.Val937Ile)
c.2359G>A (p.Val787Ile)
c.661G>A (p.Val221Ile)
c.2730+325G>A (n.2730+325G>A)
c.2431G>A (p.Val811Ile)
c.1513G>A (p.Val505Ile)
n.3064G>A
13g.51949683A>CCA484024459ATP7Bc.*677T>G (n.*677T>G)
c.*1588T>G (n.*1588T>G)
c.2244+324T>G (n.2244+324T>G)
c.2844T>G (p.Gly948=)
c.2511T>G (p.Gly837=)
c.2592T>G (p.Gly864=)
c.2610T>G (p.Gly870=)
n.24T>G
c.1800+324T>G (n.1800+324T>G)
c.1554T>G (p.Gly518=)
c.805T>G
n.3609+33T>G
n.2189T>G
c.2700T>G (p.Gly900=)
n.212-3205T>G
c.2748T>G (p.Gly916=)
c.2808T>G (p.Gly936=)
c.2358T>G (p.Gly786=)
c.660T>G (p.Gly220=)
c.2730+324T>G (n.2730+324T>G)
c.2430T>G (p.Gly810=)
c.1512T>G (p.Gly504=)
n.3063T>G
13g.51949683A>GCA484024460ATP7Bc.*677T>C (n.*677T>C)
c.*1588T>C (n.*1588T>C)
c.2244+324T>C (n.2244+324T>C)
c.2844T>C (p.Gly948=)
c.2511T>C (p.Gly837=)
c.2592T>C (p.Gly864=)
c.2610T>C (p.Gly870=)
n.24T>C
c.1800+324T>C (n.1800+324T>C)
c.1554T>C (p.Gly518=)
c.805T>C
n.3609+33T>C
n.2189T>C
c.2700T>C (p.Gly900=)
n.212-3205T>C
c.2748T>C (p.Gly916=)
c.2808T>C (p.Gly936=)
c.2358T>C (p.Gly786=)
c.660T>C (p.Gly220=)
c.2730+324T>C (n.2730+324T>C)
c.2430T>C (p.Gly810=)
c.1512T>C (p.Gly504=)
n.3063T>C
13g.51949683A>TCA484024461ATP7Bc.*677T>A (n.*677T>A)
c.*1588T>A (n.*1588T>A)
c.2244+324T>A (n.2244+324T>A)
c.2844T>A (p.Gly948=)
c.2511T>A (p.Gly837=)
c.2592T>A (p.Gly864=)
c.2610T>A (p.Gly870=)
n.24T>A
c.1800+324T>A (n.1800+324T>A)
c.1554T>A (p.Gly518=)
c.805T>A
n.3609+33T>A
n.2189T>A
c.2700T>A (p.Gly900=)
n.212-3205T>A
c.2748T>A (p.Gly916=)
c.2808T>A (p.Gly936=)
c.2358T>A (p.Gly786=)
c.660T>A (p.Gly220=)
c.2730+324T>A (n.2730+324T>A)
c.2430T>A (p.Gly810=)
c.1512T>A (p.Gly504=)
n.3063T>A
13g.51949684C>ACA388033318ATP7Bc.*676G>T (n.*676G>T)
c.*1587G>T (n.*1587G>T)
c.2244+323G>T (n.2244+323G>T)
c.2843G>T (p.Gly948Val)
c.2510G>T (p.Gly837Val)
c.2591G>T (p.Gly864Val)
c.2609G>T (p.Gly870Val)
n.23G>T
c.1800+323G>T (n.1800+323G>T)
c.1553G>T (p.Gly518Val)
c.804G>T
n.3609+32G>T
n.2188G>T
c.2699G>T (p.Gly900Val)
n.212-3206G>T
c.2747G>T (p.Gly916Val)
c.2807G>T (p.Gly936Val)
c.2357G>T (p.Gly786Val)
c.659G>T (p.Gly220Val)
c.2730+323G>T (n.2730+323G>T)
c.2429G>T (p.Gly810Val)
c.1511G>T (p.Gly504Val)
n.3062G>T
 ClinVar
13g.51949684C=CA2091541314ATP7Bc.*676G= (n.*676G=)
c.*1587G= (n.*1587G=)
c.2244+323G= (n.2244+323G=)
c.2843G= (p.Gly948=)
c.2510G= (p.Gly837=)
c.2591G= (p.Gly864=)
c.2609G= (p.Gly870=)
n.23G=
c.1800+323G= (n.1800+323G=)
c.1553G= (p.Gly518=)
c.804G=
n.3609+32G=
n.2188G=
c.2699G= (p.Gly900=)
n.212-3206G=
c.2747G= (p.Gly916=)
c.2807G= (p.Gly936=)
c.2357G= (p.Gly786=)
c.659G= (p.Gly220=)
c.2730+323G= (n.2730+323G=)
c.2429G= (p.Gly810=)
c.1511G= (p.Gly504=)
n.3062G=
13g.51949684C>GCA388033316ATP7Bc.*676G>C (n.*676G>C)
c.*1587G>C (n.*1587G>C)
c.2244+323G>C (n.2244+323G>C)
c.2843G>C (p.Gly948Ala)
c.2510G>C (p.Gly837Ala)
c.2591G>C (p.Gly864Ala)
c.2609G>C (p.Gly870Ala)
n.23G>C
c.1800+323G>C (n.1800+323G>C)
c.1553G>C (p.Gly518Ala)
c.804G>C
n.3609+32G>C
n.2188G>C
c.2699G>C (p.Gly900Ala)
n.212-3206G>C
c.2747G>C (p.Gly916Ala)
c.2807G>C (p.Gly936Ala)
c.2357G>C (p.Gly786Ala)
c.659G>C (p.Gly220Ala)
c.2730+323G>C (n.2730+323G>C)
c.2429G>C (p.Gly810Ala)
c.1511G>C (p.Gly504Ala)
n.3062G>C
13g.51949684C>TCA388033313ATP7Bc.*676G>A (n.*676G>A)
c.*1587G>A (n.*1587G>A)
c.2244+323G>A (n.2244+323G>A)
c.2843G>A (p.Gly948Asp)
c.2510G>A (p.Gly837Asp)
c.2591G>A (p.Gly864Asp)
c.2609G>A (p.Gly870Asp)
n.23G>A
c.1800+323G>A (n.1800+323G>A)
c.1553G>A (p.Gly518Asp)
c.804G>A
n.3609+32G>A
n.2188G>A
c.2699G>A (p.Gly900Asp)
n.212-3206G>A
c.2747G>A (p.Gly916Asp)
c.2807G>A (p.Gly936Asp)
c.2357G>A (p.Gly786Asp)
c.659G>A (p.Gly220Asp)
c.2730+323G>A (n.2730+323G>A)
c.2429G>A (p.Gly810Asp)
c.1511G>A (p.Gly504Asp)
n.3062G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949685C>ACA6988897ATP7Bc.*675G>T (n.*675G>T)
c.*1586G>T (n.*1586G>T)
c.2244+322G>T (n.2244+322G>T)
c.2842G>T (p.Gly948Cys)
c.2509G>T (p.Gly837Cys)
c.2590G>T (p.Gly864Cys)
c.2608G>T (p.Gly870Cys)
n.22G>T
c.1800+322G>T (n.1800+322G>T)
c.1552G>T (p.Gly518Cys)
c.803G>T
n.3609+31G>T
n.2187G>T
c.2698G>T (p.Gly900Cys)
n.212-3207G>T
c.2746G>T (p.Gly916Cys)
c.2806G>T (p.Gly936Cys)
c.2356G>T (p.Gly786Cys)
c.658G>T (p.Gly220Cys)
c.2730+322G>T (n.2730+322G>T)
c.2428G>T (p.Gly810Cys)
c.1510G>T (p.Gly504Cys)
n.3061G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51949685C=CA2091541318ATP7Bc.*675G= (n.*675G=)
c.*1586G= (n.*1586G=)
c.2244+322G= (n.2244+322G=)
c.2842G= (p.Gly948=)
c.2509G= (p.Gly837=)
c.2590G= (p.Gly864=)
c.2608G= (p.Gly870=)
n.22G=
c.1800+322G= (n.1800+322G=)
c.1552G= (p.Gly518=)
c.803G=
n.3609+31G=
n.2187G=
c.2698G= (p.Gly900=)
n.212-3207G=
c.2746G= (p.Gly916=)
c.2806G= (p.Gly936=)
c.2356G= (p.Gly786=)
c.658G= (p.Gly220=)
c.2730+322G= (n.2730+322G=)
c.2428G= (p.Gly810=)
c.1510G= (p.Gly504=)
n.3061G=
13g.51949685C>GCA388033329ATP7Bc.*675G>C (n.*675G>C)
c.*1586G>C (n.*1586G>C)
c.2244+322G>C (n.2244+322G>C)
c.2842G>C (p.Gly948Arg)
c.2509G>C (p.Gly837Arg)
c.2590G>C (p.Gly864Arg)
c.2608G>C (p.Gly870Arg)
n.22G>C
c.1800+322G>C (n.1800+322G>C)
c.1552G>C (p.Gly518Arg)
c.803G>C
n.3609+31G>C
n.2187G>C
c.2698G>C (p.Gly900Arg)
n.212-3207G>C
c.2746G>C (p.Gly916Arg)
c.2806G>C (p.Gly936Arg)
c.2356G>C (p.Gly786Arg)
c.658G>C (p.Gly220Arg)
c.2730+322G>C (n.2730+322G>C)
c.2428G>C (p.Gly810Arg)
c.1510G>C (p.Gly504Arg)
n.3061G>C
13g.51949685C>TCA388033325ATP7Bc.*675G>A (n.*675G>A)
c.*1586G>A (n.*1586G>A)
c.2244+322G>A (n.2244+322G>A)
c.2842G>A (p.Gly948Ser)
c.2509G>A (p.Gly837Ser)
c.2590G>A (p.Gly864Ser)
c.2608G>A (p.Gly870Ser)
n.22G>A
c.1800+322G>A (n.1800+322G>A)
c.1552G>A (p.Gly518Ser)
c.803G>A
n.3609+31G>A
n.2187G>A
c.2698G>A (p.Gly900Ser)
n.212-3207G>A
c.2746G>A (p.Gly916Ser)
c.2806G>A (p.Gly936Ser)
c.2356G>A (p.Gly786Ser)
c.658G>A (p.Gly220Ser)
c.2730+322G>A (n.2730+322G>A)
c.2428G>A (p.Gly810Ser)
c.1510G>A (p.Gly504Ser)
n.3061G>A
 dbSNP
13g.51949686A>CCA388033332ATP7Bc.*674T>G (n.*674T>G)
c.*1585T>G (n.*1585T>G)
c.2244+321T>G (n.2244+321T>G)
c.2841T>G (p.Phe947Leu)
c.2508T>G (p.Phe836Leu)
c.2589T>G (p.Phe863Leu)
c.2607T>G (p.Phe869Leu)
n.21T>G
c.1800+321T>G (n.1800+321T>G)
c.1551T>G (p.Phe517Leu)
c.802T>G
n.3609+30T>G
n.2186T>G
c.2697T>G (p.Phe899Leu)
n.212-3208T>G
c.2745T>G (p.Phe915Leu)
c.2805T>G (p.Phe935Leu)
c.2355T>G (p.Phe785Leu)
c.657T>G (p.Phe219Leu)
c.2730+321T>G (n.2730+321T>G)
c.2427T>G (p.Phe809Leu)
c.1509T>G (p.Phe503Leu)
n.3060T>G
13g.51949686A>GCA484024462ATP7Bc.*674T>C (n.*674T>C)
c.*1585T>C (n.*1585T>C)
c.2244+321T>C (n.2244+321T>C)
c.2841T>C (p.Phe947=)
c.2508T>C (p.Phe836=)
c.2589T>C (p.Phe863=)
c.2607T>C (p.Phe869=)
n.21T>C
c.1800+321T>C (n.1800+321T>C)
c.1551T>C (p.Phe517=)
c.802T>C
n.3609+30T>C
n.2186T>C
c.2697T>C (p.Phe899=)
n.212-3208T>C
c.2745T>C (p.Phe915=)
c.2805T>C (p.Phe935=)
c.2355T>C (p.Phe785=)
c.657T>C (p.Phe219=)
c.2730+321T>C (n.2730+321T>C)
c.2427T>C (p.Phe809=)
c.1509T>C (p.Phe503=)
n.3060T>C
13g.51949686A>TCA388033333ATP7Bc.*674T>A (n.*674T>A)
c.*1585T>A (n.*1585T>A)
c.2244+321T>A (n.2244+321T>A)
c.2841T>A (p.Phe947Leu)
c.2508T>A (p.Phe836Leu)
c.2589T>A (p.Phe863Leu)
c.2607T>A (p.Phe869Leu)
n.21T>A
c.1800+321T>A (n.1800+321T>A)
c.1551T>A (p.Phe517Leu)
c.802T>A
n.3609+30T>A
n.2186T>A
c.2697T>A (p.Phe899Leu)
n.212-3208T>A
c.2745T>A (p.Phe915Leu)
c.2805T>A (p.Phe935Leu)
c.2355T>A (p.Phe785Leu)
c.657T>A (p.Phe219Leu)
c.2730+321T>A (n.2730+321T>A)
c.2427T>A (p.Phe809Leu)
c.1509T>A (p.Phe503Leu)
n.3060T>A
13g.51949687A>CCA388033334ATP7Bc.*673T>G (n.*673T>G)
c.*1584T>G (n.*1584T>G)
c.2244+320T>G (n.2244+320T>G)
c.2840T>G (p.Phe947Cys)
c.2507T>G (p.Phe836Cys)
c.2588T>G (p.Phe863Cys)
c.2606T>G (p.Phe869Cys)
n.20T>G
c.1800+320T>G (n.1800+320T>G)
c.1550T>G (p.Phe517Cys)
c.801T>G
n.3609+29T>G
n.2185T>G
c.2696T>G (p.Phe899Cys)
n.212-3209T>G
c.2744T>G (p.Phe915Cys)
c.2804T>G (p.Phe935Cys)
c.2354T>G (p.Phe785Cys)
c.656T>G (p.Phe219Cys)
c.2730+320T>G (n.2730+320T>G)
c.2426T>G (p.Phe809Cys)
c.1508T>G (p.Phe503Cys)
n.3059T>G
13g.51949687A>GCA388033335ATP7Bc.*673T>C (n.*673T>C)
c.*1584T>C (n.*1584T>C)
c.2244+320T>C (n.2244+320T>C)
c.2840T>C (p.Phe947Ser)
c.2507T>C (p.Phe836Ser)
c.2588T>C (p.Phe863Ser)
c.2606T>C (p.Phe869Ser)
n.20T>C
c.1800+320T>C (n.1800+320T>C)
c.1550T>C (p.Phe517Ser)
c.801T>C
n.3609+29T>C
n.2185T>C
c.2696T>C (p.Phe899Ser)
n.212-3209T>C
c.2744T>C (p.Phe915Ser)
c.2804T>C (p.Phe935Ser)
c.2354T>C (p.Phe785Ser)
c.656T>C (p.Phe219Ser)
c.2730+320T>C (n.2730+320T>C)
c.2426T>C (p.Phe809Ser)
c.1508T>C (p.Phe503Ser)
n.3059T>C
13g.51949687A>TCA388033336ATP7Bc.*673T>A (n.*673T>A)
c.*1584T>A (n.*1584T>A)
c.2244+320T>A (n.2244+320T>A)
c.2840T>A (p.Phe947Tyr)
c.2507T>A (p.Phe836Tyr)
c.2588T>A (p.Phe863Tyr)
c.2606T>A (p.Phe869Tyr)
n.20T>A
c.1800+320T>A (n.1800+320T>A)
c.1550T>A (p.Phe517Tyr)
c.801T>A
n.3609+29T>A
n.2185T>A
c.2696T>A (p.Phe899Tyr)
n.212-3209T>A
c.2744T>A (p.Phe915Tyr)
c.2804T>A (p.Phe935Tyr)
c.2354T>A (p.Phe785Tyr)
c.656T>A (p.Phe219Tyr)
c.2730+320T>A (n.2730+320T>A)
c.2426T>A (p.Phe809Tyr)
c.1508T>A (p.Phe503Tyr)
n.3059T>A
13g.51949688A>CCA388033337ATP7Bc.*672T>G (n.*672T>G)
c.*1583T>G (n.*1583T>G)
c.2244+319T>G (n.2244+319T>G)
c.2839T>G (p.Phe947Val)
c.2506T>G (p.Phe836Val)
c.2587T>G (p.Phe863Val)
c.2605T>G (p.Phe869Val)
n.19T>G
c.1800+319T>G (n.1800+319T>G)
c.1549T>G (p.Phe517Val)
c.800T>G
n.3609+28T>G
n.2184T>G
c.2695T>G (p.Phe899Val)
n.212-3210T>G
c.2743T>G (p.Phe915Val)
c.2803T>G (p.Phe935Val)
c.2353T>G (p.Phe785Val)
c.655T>G (p.Phe219Val)
c.2730+319T>G (n.2730+319T>G)
c.2425T>G (p.Phe809Val)
c.1507T>G (p.Phe503Val)
n.3058T>G
13g.51949688A>GCA388033339ATP7Bc.*672T>C (n.*672T>C)
c.*1583T>C (n.*1583T>C)
c.2244+319T>C (n.2244+319T>C)
c.2839T>C (p.Phe947Leu)
c.2506T>C (p.Phe836Leu)
c.2587T>C (p.Phe863Leu)
c.2605T>C (p.Phe869Leu)
n.19T>C
c.1800+319T>C (n.1800+319T>C)
c.1549T>C (p.Phe517Leu)
c.800T>C
n.3609+28T>C
n.2184T>C
c.2695T>C (p.Phe899Leu)
n.212-3210T>C
c.2743T>C (p.Phe915Leu)
c.2803T>C (p.Phe935Leu)
c.2353T>C (p.Phe785Leu)
c.655T>C (p.Phe219Leu)
c.2730+319T>C (n.2730+319T>C)
c.2425T>C (p.Phe809Leu)
c.1507T>C (p.Phe503Leu)
n.3058T>C
13g.51949688A>TCA388033341ATP7Bc.*672T>A (n.*672T>A)
c.*1583T>A (n.*1583T>A)
c.2244+319T>A (n.2244+319T>A)
c.2839T>A (p.Phe947Ile)
c.2506T>A (p.Phe836Ile)
c.2587T>A (p.Phe863Ile)
c.2605T>A (p.Phe869Ile)
n.19T>A
c.1800+319T>A (n.1800+319T>A)
c.1549T>A (p.Phe517Ile)
c.800T>A
n.3609+28T>A
n.2184T>A
c.2695T>A (p.Phe899Ile)
n.212-3210T>A
c.2743T>A (p.Phe915Ile)
c.2803T>A (p.Phe935Ile)
c.2353T>A (p.Phe785Ile)
c.655T>A (p.Phe219Ile)
c.2730+319T>A (n.2730+319T>A)
c.2425T>A (p.Phe809Ile)
c.1507T>A (p.Phe503Ile)
n.3058T>A
13g.51949689A>CCA388033343ATP7Bc.*671T>G (n.*671T>G)
c.*1582T>G (n.*1582T>G)
c.2244+318T>G (n.2244+318T>G)
c.2838T>G (p.Asp946Glu)
c.2505T>G (p.Asp835Glu)
c.2586T>G (p.Asp862Glu)
c.2604T>G (p.Asp868Glu)
n.18T>G
c.1800+318T>G (n.1800+318T>G)
c.1548T>G (p.Asp516Glu)
c.799T>G
n.3609+27T>G
n.2183T>G
c.2694T>G (p.Asp898Glu)
n.212-3211T>G
c.2742T>G (p.Asp914Glu)
c.2802T>G (p.Asp934Glu)
c.2352T>G (p.Asp784Glu)
c.654T>G (p.Asp218Glu)
c.2730+318T>G (n.2730+318T>G)
c.2424T>G (p.Asp808Glu)
c.1506T>G (p.Asp502Glu)
n.3057T>G
13g.51949689A>GCA484024463ATP7Bc.*671T>C (n.*671T>C)
c.*1582T>C (n.*1582T>C)
c.2244+318T>C (n.2244+318T>C)
c.2838T>C (p.Asp946=)
c.2505T>C (p.Asp835=)
c.2586T>C (p.Asp862=)
c.2604T>C (p.Asp868=)
n.18T>C
c.1800+318T>C (n.1800+318T>C)
c.1548T>C (p.Asp516=)
c.799T>C
n.3609+27T>C
n.2183T>C
c.2694T>C (p.Asp898=)
n.212-3211T>C
c.2742T>C (p.Asp914=)
c.2802T>C (p.Asp934=)
c.2352T>C (p.Asp784=)
c.654T>C (p.Asp218=)
c.2730+318T>C (n.2730+318T>C)
c.2424T>C (p.Asp808=)
c.1506T>C (p.Asp502=)
n.3057T>C
 ClinVar
13g.51949689A>TCA388033346ATP7Bc.*671T>A (n.*671T>A)
c.*1582T>A (n.*1582T>A)
c.2244+318T>A (n.2244+318T>A)
c.2838T>A (p.Asp946Glu)
c.2505T>A (p.Asp835Glu)
c.2586T>A (p.Asp862Glu)
c.2604T>A (p.Asp868Glu)
n.18T>A
c.1800+318T>A (n.1800+318T>A)
c.1548T>A (p.Asp516Glu)
c.799T>A
n.3609+27T>A
n.2183T>A
c.2694T>A (p.Asp898Glu)
n.212-3211T>A
c.2742T>A (p.Asp914Glu)
c.2802T>A (p.Asp934Glu)
c.2352T>A (p.Asp784Glu)
c.654T>A (p.Asp218Glu)
c.2730+318T>A (n.2730+318T>A)
c.2424T>A (p.Asp808Glu)
c.1506T>A (p.Asp502Glu)
n.3057T>A
13g.51949690T>ACA388033349ATP7Bc.*670A>T (n.*670A>T)
c.*1581A>T (n.*1581A>T)
c.2244+317A>T (n.2244+317A>T)
c.2837A>T (p.Asp946Val)
c.2504A>T (p.Asp835Val)
c.2585A>T (p.Asp862Val)
c.2603A>T (p.Asp868Val)
n.17A>T
c.1800+317A>T (n.1800+317A>T)
c.1547A>T (p.Asp516Val)
c.798A>T
n.3609+26A>T
n.2182A>T
c.2693A>T (p.Asp898Val)
n.212-3212A>T
c.2741A>T (p.Asp914Val)
c.2801A>T (p.Asp934Val)
c.2351A>T (p.Asp784Val)
c.653A>T (p.Asp218Val)
c.2730+317A>T (n.2730+317A>T)
c.2423A>T (p.Asp808Val)
c.1505A>T (p.Asp502Val)
n.3056A>T
 ClinVar dbSNP
13g.51949690T>CCA388033352ATP7Bc.*670A>G (n.*670A>G)
c.*1581A>G (n.*1581A>G)
c.2244+317A>G (n.2244+317A>G)
c.2837A>G (p.Asp946Gly)
c.2504A>G (p.Asp835Gly)
c.2585A>G (p.Asp862Gly)
c.2603A>G (p.Asp868Gly)
n.17A>G
c.1800+317A>G (n.1800+317A>G)
c.1547A>G (p.Asp516Gly)
c.798A>G
n.3609+26A>G
n.2182A>G
c.2693A>G (p.Asp898Gly)
n.212-3212A>G
c.2741A>G (p.Asp914Gly)
c.2801A>G (p.Asp934Gly)
c.2351A>G (p.Asp784Gly)
c.653A>G (p.Asp218Gly)
c.2730+317A>G (n.2730+317A>G)
c.2423A>G (p.Asp808Gly)
c.1505A>G (p.Asp502Gly)
n.3056A>G
13g.51949690T>GCA388033355ATP7Bc.*670A>C (n.*670A>C)
c.*1581A>C (n.*1581A>C)
c.2244+317A>C (n.2244+317A>C)
c.2837A>C (p.Asp946Ala)
c.2504A>C (p.Asp835Ala)
c.2585A>C (p.Asp862Ala)
c.2603A>C (p.Asp868Ala)
n.17A>C
c.1800+317A>C (n.1800+317A>C)
c.1547A>C (p.Asp516Ala)
c.798A>C
n.3609+26A>C
n.2182A>C
c.2693A>C (p.Asp898Ala)
n.212-3212A>C
c.2741A>C (p.Asp914Ala)
c.2801A>C (p.Asp934Ala)
c.2351A>C (p.Asp784Ala)
c.653A>C (p.Asp218Ala)
c.2730+317A>C (n.2730+317A>C)
c.2423A>C (p.Asp808Ala)
c.1505A>C (p.Asp502Ala)
n.3056A>C
13g.51949691C>ACA388033360ATP7Bc.*669G>T (n.*669G>T)
c.*1580G>T (n.*1580G>T)
c.2244+316G>T (n.2244+316G>T)
c.2836G>T (p.Asp946Tyr)
c.2503G>T (p.Asp835Tyr)
c.2584G>T (p.Asp862Tyr)
c.2602G>T (p.Asp868Tyr)
n.16G>T
c.1800+316G>T (n.1800+316G>T)
c.1546G>T (p.Asp516Tyr)
c.797G>T
n.3609+25G>T
n.2181G>T
c.2692G>T (p.Asp898Tyr)
n.212-3213G>T
c.2740G>T (p.Asp914Tyr)
c.2800G>T (p.Asp934Tyr)
c.2350G>T (p.Asp784Tyr)
c.652G>T (p.Asp218Tyr)
c.2730+316G>T (n.2730+316G>T)
c.2422G>T (p.Asp808Tyr)
c.1504G>T (p.Asp502Tyr)
n.3055G>T
13g.51949691C=CA2091541323ATP7Bc.*669G= (n.*669G=)
c.*1580G= (n.*1580G=)
c.2244+316G= (n.2244+316G=)
c.2836G= (p.Asp946=)
c.2503G= (p.Asp835=)
c.2584G= (p.Asp862=)
c.2602G= (p.Asp868=)
n.16G=
c.1800+316G= (n.1800+316G=)
c.1546G= (p.Asp516=)
c.797G=
n.3609+25G=
n.2181G=
c.2692G= (p.Asp898=)
n.212-3213G=
c.2740G= (p.Asp914=)
c.2800G= (p.Asp934=)
c.2350G= (p.Asp784=)
c.652G= (p.Asp218=)
c.2730+316G= (n.2730+316G=)
c.2422G= (p.Asp808=)
c.1504G= (p.Asp502=)
n.3055G=
13g.51949691C>GCA388033363ATP7Bc.*669G>C (n.*669G>C)
c.*1580G>C (n.*1580G>C)
c.2244+316G>C (n.2244+316G>C)
c.2836G>C (p.Asp946His)
c.2503G>C (p.Asp835His)
c.2584G>C (p.Asp862His)
c.2602G>C (p.Asp868His)
n.16G>C
c.1800+316G>C (n.1800+316G>C)
c.1546G>C (p.Asp516His)
c.797G>C
n.3609+25G>C
n.2181G>C
c.2692G>C (p.Asp898His)
n.212-3213G>C
c.2740G>C (p.Asp914His)
c.2800G>C (p.Asp934His)
c.2350G>C (p.Asp784His)
c.652G>C (p.Asp218His)
c.2730+316G>C (n.2730+316G>C)
c.2422G>C (p.Asp808His)
c.1504G>C (p.Asp502His)
n.3055G>C
 gnomAD v4
13g.51949691C>TCA6988898ATP7Bc.*669G>A (n.*669G>A)
c.*1580G>A (n.*1580G>A)
c.2244+316G>A (n.2244+316G>A)
c.2836G>A (p.Asp946Asn)
c.2503G>A (p.Asp835Asn)
c.2584G>A (p.Asp862Asn)
c.2602G>A (p.Asp868Asn)
n.16G>A
c.1800+316G>A (n.1800+316G>A)
c.1546G>A (p.Asp516Asn)
c.797G>A
n.3609+25G>A
n.2181G>A
c.2692G>A (p.Asp898Asn)
n.212-3213G>A
c.2740G>A (p.Asp914Asn)
c.2800G>A (p.Asp934Asn)
c.2350G>A (p.Asp784Asn)
c.652G>A (p.Asp218Asn)
c.2730+316G>A (n.2730+316G>A)
c.2422G>A (p.Asp808Asn)
c.1504G>A (p.Asp502Asn)
n.3055G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949692G>ACA6988899ATP7Bc.*668C>T (n.*668C>T)
c.*1579C>T (n.*1579C>T)
c.2244+315C>T (n.2244+315C>T)
c.2835C>T (p.Ile945=)
c.2502C>T (p.Ile834=)
c.2583C>T (p.Ile861=)
c.2601C>T (p.Ile867=)
n.15C>T
c.1800+315C>T (n.1800+315C>T)
c.1545C>T (p.Ile515=)
c.796C>T
n.3609+24C>T
n.2180C>T
c.2691C>T (p.Ile897=)
n.212-3214C>T
c.2739C>T (p.Ile913=)
c.2799C>T (p.Ile933=)
c.2349C>T (p.Ile783=)
c.651C>T (p.Ile217=)
c.2730+315C>T (n.2730+315C>T)
c.2421C>T (p.Ile807=)
c.1503C>T (p.Ile501=)
n.3054C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51949692G>CCA388033366ATP7Bc.*668C>G (n.*668C>G)
c.*1579C>G (n.*1579C>G)
c.2244+315C>G (n.2244+315C>G)
c.2835C>G (p.Ile945Met)
c.2502C>G (p.Ile834Met)
c.2583C>G (p.Ile861Met)
c.2601C>G (p.Ile867Met)
n.15C>G
c.1800+315C>G (n.1800+315C>G)
c.1545C>G (p.Ile515Met)
c.796C>G
n.3609+24C>G
n.2180C>G
c.2691C>G (p.Ile897Met)
n.212-3214C>G
c.2739C>G (p.Ile913Met)
c.2799C>G (p.Ile933Met)
c.2349C>G (p.Ile783Met)
c.651C>G (p.Ile217Met)
c.2730+315C>G (n.2730+315C>G)
c.2421C>G (p.Ile807Met)
c.1503C>G (p.Ile501Met)
n.3054C>G
13g.51949692G=CA2091541327ATP7Bc.*668C= (n.*668C=)
c.*1579C= (n.*1579C=)
c.2244+315C= (n.2244+315C=)
c.2835C= (p.Ile945=)
c.2502C= (p.Ile834=)
c.2583C= (p.Ile861=)
c.2601C= (p.Ile867=)
n.15C=
c.1800+315C= (n.1800+315C=)
c.1545C= (p.Ile515=)
c.796C=
n.3609+24C=
n.2180C=
c.2691C= (p.Ile897=)
n.212-3214C=
c.2739C= (p.Ile913=)
c.2799C= (p.Ile933=)
c.2349C= (p.Ile783=)
c.651C= (p.Ile217=)
c.2730+315C= (n.2730+315C=)
c.2421C= (p.Ile807=)
c.1503C= (p.Ile501=)
n.3054C=
13g.51949692G>TCA484024464ATP7Bc.*668C>A (n.*668C>A)
c.*1579C>A (n.*1579C>A)
c.2244+315C>A (n.2244+315C>A)
c.2835C>A (p.Ile945=)
c.2502C>A (p.Ile834=)
c.2583C>A (p.Ile861=)
c.2601C>A (p.Ile867=)
n.15C>A
c.1800+315C>A (n.1800+315C>A)
c.1545C>A (p.Ile515=)
c.796C>A
n.3609+24C>A
n.2180C>A
c.2691C>A (p.Ile897=)
n.212-3214C>A
c.2739C>A (p.Ile913=)
c.2799C>A (p.Ile933=)
c.2349C>A (p.Ile783=)
c.651C>A (p.Ile217=)
c.2730+315C>A (n.2730+315C>A)
c.2421C>A (p.Ile807=)
c.1503C>A (p.Ile501=)
n.3054C>A
13g.51949693A>CCA388033370ATP7Bc.*667T>G (n.*667T>G)
c.*1578T>G (n.*1578T>G)
c.2244+314T>G (n.2244+314T>G)
c.2834T>G (p.Ile945Ser)
c.2501T>G (p.Ile834Ser)
c.2582T>G (p.Ile861Ser)
c.2600T>G (p.Ile867Ser)
n.14T>G
c.1800+314T>G (n.1800+314T>G)
c.1544T>G (p.Ile515Ser)
c.795T>G
n.3609+23T>G
n.2179T>G
c.2690T>G (p.Ile897Ser)
n.212-3215T>G
c.2738T>G (p.Ile913Ser)
c.2798T>G (p.Ile933Ser)
c.2348T>G (p.Ile783Ser)
c.650T>G (p.Ile217Ser)
c.2730+314T>G (n.2730+314T>G)
c.2420T>G (p.Ile807Ser)
c.1502T>G (p.Ile501Ser)
n.3053T>G
13g.51949693A>GCA388033372ATP7Bc.*667T>C (n.*667T>C)
c.*1578T>C (n.*1578T>C)
c.2244+314T>C (n.2244+314T>C)
c.2834T>C (p.Ile945Thr)
c.2501T>C (p.Ile834Thr)
c.2582T>C (p.Ile861Thr)
c.2600T>C (p.Ile867Thr)
n.14T>C
c.1800+314T>C (n.1800+314T>C)
c.1544T>C (p.Ile515Thr)
c.795T>C
n.3609+23T>C
n.2179T>C
c.2690T>C (p.Ile897Thr)
n.212-3215T>C
c.2738T>C (p.Ile913Thr)
c.2798T>C (p.Ile933Thr)
c.2348T>C (p.Ile783Thr)
c.650T>C (p.Ile217Thr)
c.2730+314T>C (n.2730+314T>C)
c.2420T>C (p.Ile807Thr)
c.1502T>C (p.Ile501Thr)
n.3053T>C
13g.51949693A>TCA388033375ATP7Bc.*667T>A (n.*667T>A)
c.*1578T>A (n.*1578T>A)
c.2244+314T>A (n.2244+314T>A)
c.2834T>A (p.Ile945Asn)
c.2501T>A (p.Ile834Asn)
c.2582T>A (p.Ile861Asn)
c.2600T>A (p.Ile867Asn)
n.14T>A
c.1800+314T>A (n.1800+314T>A)
c.1544T>A (p.Ile515Asn)
c.795T>A
n.3609+23T>A
n.2179T>A
c.2690T>A (p.Ile897Asn)
n.212-3215T>A
c.2738T>A (p.Ile913Asn)
c.2798T>A (p.Ile933Asn)
c.2348T>A (p.Ile783Asn)
c.650T>A (p.Ile217Asn)
c.2730+314T>A (n.2730+314T>A)
c.2420T>A (p.Ile807Asn)
c.1502T>A (p.Ile501Asn)
n.3053T>A
13g.51949694T>ACA388033376ATP7Bc.*666A>T (n.*666A>T)
c.*1577A>T (n.*1577A>T)
c.2244+313A>T (n.2244+313A>T)
c.2833A>T (p.Ile945Phe)
c.2500A>T (p.Ile834Phe)
c.2581A>T (p.Ile861Phe)
c.2599A>T (p.Ile867Phe)
n.13A>T
c.1800+313A>T (n.1800+313A>T)
c.1543A>T (p.Ile515Phe)
c.794A>T
n.3609+22A>T
n.2178A>T
c.2689A>T (p.Ile897Phe)
n.212-3216A>T
c.2737A>T (p.Ile913Phe)
c.2797A>T (p.Ile933Phe)
c.2347A>T (p.Ile783Phe)
c.649A>T (p.Ile217Phe)
c.2730+313A>T (n.2730+313A>T)
c.2419A>T (p.Ile807Phe)
c.1501A>T (p.Ile501Phe)
n.3052A>T
13g.51949694T>CCA6988900ATP7Bc.*666A>G (n.*666A>G)
c.*1577A>G (n.*1577A>G)
c.2244+313A>G (n.2244+313A>G)
c.2833A>G (p.Ile945Val)
c.2500A>G (p.Ile834Val)
c.2581A>G (p.Ile861Val)
c.2599A>G (p.Ile867Val)
n.13A>G
c.1800+313A>G (n.1800+313A>G)
c.1543A>G (p.Ile515Val)
c.794A>G
n.3609+22A>G
n.2178A>G
c.2689A>G (p.Ile897Val)
n.212-3216A>G
c.2737A>G (p.Ile913Val)
c.2797A>G (p.Ile933Val)
c.2347A>G (p.Ile783Val)
c.649A>G (p.Ile217Val)
c.2730+313A>G (n.2730+313A>G)
c.2419A>G (p.Ile807Val)
c.1501A>G (p.Ile501Val)
n.3052A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51949694T>GCA388033377ATP7Bc.*666A>C (n.*666A>C)
c.*1577A>C (n.*1577A>C)
c.2244+313A>C (n.2244+313A>C)
c.2833A>C (p.Ile945Leu)
c.2500A>C (p.Ile834Leu)
c.2581A>C (p.Ile861Leu)
c.2599A>C (p.Ile867Leu)
n.13A>C
c.1800+313A>C (n.1800+313A>C)
c.1543A>C (p.Ile515Leu)
c.794A>C
n.3609+22A>C
n.2178A>C
c.2689A>C (p.Ile897Leu)
n.212-3216A>C
c.2737A>C (p.Ile913Leu)
c.2797A>C (p.Ile933Leu)
c.2347A>C (p.Ile783Leu)
c.649A>C (p.Ile217Leu)
c.2730+313A>C (n.2730+313A>C)
c.2419A>C (p.Ile807Leu)
c.1501A>C (p.Ile501Leu)
n.3052A>C
13g.51949694T=CA2091541329ATP7Bc.*666A= (n.*666A=)
c.*1577A= (n.*1577A=)
c.2244+313A= (n.2244+313A=)
c.2833A= (p.Ile945=)
c.2500A= (p.Ile834=)
c.2581A= (p.Ile861=)
c.2599A= (p.Ile867=)
n.13A=
c.1800+313A= (n.1800+313A=)
c.1543A= (p.Ile515=)
c.794A=
n.3609+22A=
n.2178A=
c.2689A= (p.Ile897=)
n.212-3216A=
c.2737A= (p.Ile913=)
c.2797A= (p.Ile933=)
c.2347A= (p.Ile783=)
c.649A= (p.Ile217=)
c.2730+313A= (n.2730+313A=)
c.2419A= (p.Ile807=)
c.1501A= (p.Ile501=)
n.3052A=
13g.51949694_51949701delCA912974800ATP7Bc.*659_*666del (n.*659_*666del)
c.*1570_*1577del (n.*1570_*1577del)
c.2244+306_2244+313del (n.2244+306_2244+313del)
c.2826_2833del (p.Gly943ArgfsTer11)
c.2493_2500del (p.Gly832ArgfsTer11)
c.2574_2581del (p.Gly859ArgfsTer11)
c.2592_2599del (p.Gly865ArgfsTer11)
n.6_13del
c.1800+306_1800+313del (n.1800+306_1800+313del)
c.1536_1543del (p.Gly513ArgfsTer11)
c.2826_2833del (p.Gly943ArgfsTer17)
c.787_794del
c.2592_2599del (p.Gly865ArgfsTer?)
n.3609+15_3609+22del
n.2171_2178del
c.2682_2689del (p.Gly895ArgfsTer11)
n.212-3223_212-3216del
c.2730_2737del (p.Gly911ArgfsTer11)
c.2790_2797del (p.Gly931ArgfsTer11)
c.2340_2347del (p.Gly781ArgfsTer11)
c.642_649del (p.Gly215ArgfsTer11)
c.2730+306_2730+313del (n.2730+306_2730+313del)
c.2412_2419del (p.Gly805ArgfsTer11)
c.1494_1501del (p.Gly499ArgfsTer11)
n.3045_3052del
13g.51949694_51949701delinsTAAAACCGCA2091541330ATP7Bc.*659_*666delinsCGGTTTTA (n.*659_*666delinsCGGTTTTA)
c.*1570_*1577delinsCGGTTTTA (n.*1570_*1577delinsCGGTTTTA)
c.2244+306_2244+313delinsCGGTTTTA (n.2244+306_2244+313delinsCGGTTTTA)
c.2826_2833delinsCGGTTTTA (p.Ile942=)
c.2493_2500delinsCGGTTTTA (p.Ile831=)
c.2574_2581delinsCGGTTTTA (p.Ile858=)
c.2592_2599delinsCGGTTTTA (p.Ile864=)
n.6_13delinsCGGTTTTA
c.1800+306_1800+313delinsCGGTTTTA (n.1800+306_1800+313delinsCGGTTTTA)
c.1536_1543delinsCGGTTTTA (p.Ile512=)
c.787_794delinsCGGTTTTA
n.3609+15_3609+22delinsCGGTTTTA
n.2171_2178delinsCGGTTTTA
c.2682_2689delinsCGGTTTTA (p.Ile894=)
n.212-3223_212-3216delinsCGGTTTTA
c.2730_2737delinsCGGTTTTA (p.Ile910=)
c.2790_2797delinsCGGTTTTA (p.Ile930=)
c.2340_2347delinsCGGTTTTA (p.Ile780=)
c.642_649delinsCGGTTTTA (p.Ile214=)
c.2730+306_2730+313delinsCGGTTTTA (n.2730+306_2730+313delinsCGGTTTTA)
c.2412_2419delinsCGGTTTTA (p.Ile804=)
c.1494_1501delinsCGGTTTTA (p.Ile498=)
n.3045_3052delinsCGGTTTTA
13g.51949695A=CA2091541337ATP7Bc.*665T= (n.*665T=)
c.*1576T= (n.*1576T=)
c.2244+312T= (n.2244+312T=)
c.2832T= (p.Phe944=)
c.2499T= (p.Phe833=)
c.2580T= (p.Phe860=)
c.2598T= (p.Phe866=)
n.12T=
c.1800+312T= (n.1800+312T=)
c.1542T= (p.Phe514=)
c.793T=
n.3609+21T=
n.2177T=
c.2688T= (p.Phe896=)
n.212-3217T=
c.2736T= (p.Phe912=)
c.2796T= (p.Phe932=)
c.2346T= (p.Phe782=)
c.648T= (p.Phe216=)
c.2730+312T= (n.2730+312T=)
c.2418T= (p.Phe806=)
c.1500T= (p.Phe500=)
n.3051T=
13g.51949695A>CCA388033378ATP7Bc.*665T>G (n.*665T>G)
c.*1576T>G (n.*1576T>G)
c.2244+312T>G (n.2244+312T>G)
c.2832T>G (p.Phe944Leu)
c.2499T>G (p.Phe833Leu)
c.2580T>G (p.Phe860Leu)
c.2598T>G (p.Phe866Leu)
n.12T>G
c.1800+312T>G (n.1800+312T>G)
c.1542T>G (p.Phe514Leu)
c.793T>G
n.3609+21T>G
n.2177T>G
c.2688T>G (p.Phe896Leu)
n.212-3217T>G
c.2736T>G (p.Phe912Leu)
c.2796T>G (p.Phe932Leu)
c.2346T>G (p.Phe782Leu)
c.648T>G (p.Phe216Leu)
c.2730+312T>G (n.2730+312T>G)
c.2418T>G (p.Phe806Leu)
c.1500T>G (p.Phe500Leu)
n.3051T>G
13g.51949695A>GCA484024468ATP7Bc.*665T>C (n.*665T>C)
c.*1576T>C (n.*1576T>C)
c.2244+312T>C (n.2244+312T>C)
c.2832T>C (p.Phe944=)
c.2499T>C (p.Phe833=)
c.2580T>C (p.Phe860=)
c.2598T>C (p.Phe866=)
n.12T>C
c.1800+312T>C (n.1800+312T>C)
c.1542T>C (p.Phe514=)
c.793T>C
n.3609+21T>C
n.2177T>C
c.2688T>C (p.Phe896=)
n.212-3217T>C
c.2736T>C (p.Phe912=)
c.2796T>C (p.Phe932=)
c.2346T>C (p.Phe782=)
c.648T>C (p.Phe216=)
c.2730+312T>C (n.2730+312T>C)
c.2418T>C (p.Phe806=)
c.1500T>C (p.Phe500=)
n.3051T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51949695A>TCA388033379ATP7Bc.*665T>A (n.*665T>A)
c.*1576T>A (n.*1576T>A)
c.2244+312T>A (n.2244+312T>A)
c.2832T>A (p.Phe944Leu)
c.2499T>A (p.Phe833Leu)
c.2580T>A (p.Phe860Leu)
c.2598T>A (p.Phe866Leu)
n.12T>A
c.1800+312T>A (n.1800+312T>A)
c.1542T>A (p.Phe514Leu)
c.793T>A
n.3609+21T>A
n.2177T>A
c.2688T>A (p.Phe896Leu)
n.212-3217T>A
c.2736T>A (p.Phe912Leu)
c.2796T>A (p.Phe932Leu)
c.2346T>A (p.Phe782Leu)
c.648T>A (p.Phe216Leu)
c.2730+312T>A (n.2730+312T>A)
c.2418T>A (p.Phe806Leu)
c.1500T>A (p.Phe500Leu)
n.3051T>A
13g.51949696_51949702delCA658823707ATP7Bc.*659_*665del (n.*659_*665del)
c.*1570_*1576del (n.*1570_*1576del)
c.2244+306_2244+312del (n.2244+306_2244+312del)
c.2826_2832del (p.Gly943SerfsTer22)
c.2493_2499del (p.Gly832SerfsTer22)
c.2574_2580del (p.Gly859SerfsTer22)
c.2592_2598del (p.Gly865SerfsTer22)
n.6_12del
c.1800+306_1800+312del (n.1800+306_1800+312del)
c.1536_1542del (p.Gly513SerfsTer22)
c.2826_2832del (p.Gly943SerfsTer12)
c.787_793del
c.2592_2598del (p.Gly865SerfsTer17)
n.3609+15_3609+21del
n.2171_2177del
c.2682_2688del (p.Gly895SerfsTer22)
n.212-3223_212-3217del
c.2730_2736del (p.Gly911SerfsTer22)
c.2790_2796del (p.Gly931SerfsTer22)
c.2340_2346del (p.Gly781SerfsTer22)
c.642_648del (p.Gly215SerfsTer22)
c.2730+306_2730+312del (n.2730+306_2730+312del)
c.2412_2418del (p.Gly805SerfsTer22)
c.1494_1500del (p.Gly499SerfsTer22)
n.3045_3051del
 ClinVar dbSNP
13g.51949696A>CCA388033387ATP7Bc.*664T>G (n.*664T>G)
c.*1575T>G (n.*1575T>G)
c.2244+311T>G (n.2244+311T>G)
c.2831T>G (p.Phe944Cys)
c.2498T>G (p.Phe833Cys)
c.2579T>G (p.Phe860Cys)
c.2597T>G (p.Phe866Cys)
n.11T>G
c.1800+311T>G (n.1800+311T>G)
c.1541T>G (p.Phe514Cys)
c.792T>G
n.3609+20T>G
n.2176T>G
c.2687T>G (p.Phe896Cys)
n.212-3218T>G
c.2735T>G (p.Phe912Cys)
c.2795T>G (p.Phe932Cys)
c.2345T>G (p.Phe782Cys)
c.647T>G (p.Phe216Cys)
c.2730+311T>G (n.2730+311T>G)
c.2417T>G (p.Phe806Cys)
c.1499T>G (p.Phe500Cys)
n.3050T>G
13g.51949696A>GCA388033385ATP7Bc.*664T>C (n.*664T>C)
c.*1575T>C (n.*1575T>C)
c.2244+311T>C (n.2244+311T>C)
c.2831T>C (p.Phe944Ser)
c.2498T>C (p.Phe833Ser)
c.2579T>C (p.Phe860Ser)
c.2597T>C (p.Phe866Ser)
n.11T>C
c.1800+311T>C (n.1800+311T>C)
c.1541T>C (p.Phe514Ser)
c.792T>C
n.3609+20T>C
n.2176T>C
c.2687T>C (p.Phe896Ser)
n.212-3218T>C
c.2735T>C (p.Phe912Ser)
c.2795T>C (p.Phe932Ser)
c.2345T>C (p.Phe782Ser)
c.647T>C (p.Phe216Ser)
c.2730+311T>C (n.2730+311T>C)
c.2417T>C (p.Phe806Ser)
c.1499T>C (p.Phe500Ser)
n.3050T>C
13g.51949696A>TCA388033382ATP7Bc.*664T>A (n.*664T>A)
c.*1575T>A (n.*1575T>A)
c.2244+311T>A (n.2244+311T>A)
c.2831T>A (p.Phe944Tyr)
c.2498T>A (p.Phe833Tyr)
c.2579T>A (p.Phe860Tyr)
c.2597T>A (p.Phe866Tyr)
n.11T>A
c.1800+311T>A (n.1800+311T>A)
c.1541T>A (p.Phe514Tyr)
c.792T>A
n.3609+20T>A
n.2176T>A
c.2687T>A (p.Phe896Tyr)
n.212-3218T>A
c.2735T>A (p.Phe912Tyr)
c.2795T>A (p.Phe932Tyr)
c.2345T>A (p.Phe782Tyr)
c.647T>A (p.Phe216Tyr)
c.2730+311T>A (n.2730+311T>A)
c.2417T>A (p.Phe806Tyr)
c.1499T>A (p.Phe500Tyr)
n.3050T>A
 gnomAD v4
13g.51949697A>CCA388033399ATP7Bc.*663T>G (n.*663T>G)
c.*1574T>G (n.*1574T>G)
c.2244+310T>G (n.2244+310T>G)
c.2830T>G (p.Phe944Val)
c.2497T>G (p.Phe833Val)
c.2578T>G (p.Phe860Val)
c.2596T>G (p.Phe866Val)
n.10T>G
c.1800+310T>G (n.1800+310T>G)
c.1540T>G (p.Phe514Val)
c.791T>G
n.3609+19T>G
n.2175T>G
c.2686T>G (p.Phe896Val)
n.212-3219T>G
c.2734T>G (p.Phe912Val)
c.2794T>G (p.Phe932Val)
c.2344T>G (p.Phe782Val)
c.646T>G (p.Phe216Val)
c.2730+310T>G (n.2730+310T>G)
c.2416T>G (p.Phe806Val)
c.1498T>G (p.Phe500Val)
n.3049T>G
 gnomAD v4
13g.51949697A>GCA388033403ATP7Bc.*663T>C (n.*663T>C)
c.*1574T>C (n.*1574T>C)
c.2244+310T>C (n.2244+310T>C)
c.2830T>C (p.Phe944Leu)
c.2497T>C (p.Phe833Leu)
c.2578T>C (p.Phe860Leu)
c.2596T>C (p.Phe866Leu)
n.10T>C
c.1800+310T>C (n.1800+310T>C)
c.1540T>C (p.Phe514Leu)
c.791T>C
n.3609+19T>C
n.2175T>C
c.2686T>C (p.Phe896Leu)
n.212-3219T>C
c.2734T>C (p.Phe912Leu)
c.2794T>C (p.Phe932Leu)
c.2344T>C (p.Phe782Leu)
c.646T>C (p.Phe216Leu)
c.2730+310T>C (n.2730+310T>C)
c.2416T>C (p.Phe806Leu)
c.1498T>C (p.Phe500Leu)
n.3049T>C
13g.51949697A>TCA388033406ATP7Bc.*663T>A (n.*663T>A)
c.*1574T>A (n.*1574T>A)
c.2244+310T>A (n.2244+310T>A)
c.2830T>A (p.Phe944Ile)
c.2497T>A (p.Phe833Ile)
c.2578T>A (p.Phe860Ile)
c.2596T>A (p.Phe866Ile)
n.10T>A
c.1800+310T>A (n.1800+310T>A)
c.1540T>A (p.Phe514Ile)
c.791T>A
n.3609+19T>A
n.2175T>A
c.2686T>A (p.Phe896Ile)
n.212-3219T>A
c.2734T>A (p.Phe912Ile)
c.2794T>A (p.Phe932Ile)
c.2344T>A (p.Phe782Ile)
c.646T>A (p.Phe216Ile)
c.2730+310T>A (n.2730+310T>A)
c.2416T>A (p.Phe806Ile)
c.1498T>A (p.Phe500Ile)
n.3049T>A
13g.51949698A>CCA484024476ATP7Bc.*662T>G (n.*662T>G)
c.*1573T>G (n.*1573T>G)
c.2244+309T>G (n.2244+309T>G)
c.2829T>G (p.Gly943=)
c.2496T>G (p.Gly832=)
c.2577T>G (p.Gly859=)
c.2595T>G (p.Gly865=)
n.9T>G
c.1800+309T>G (n.1800+309T>G)
c.1539T>G (p.Gly513=)
c.790T>G
n.3609+18T>G
n.2174T>G
c.2685T>G (p.Gly895=)
n.212-3220T>G
c.2733T>G (p.Gly911=)
c.2793T>G (p.Gly931=)
c.2343T>G (p.Gly781=)
c.645T>G (p.Gly215=)
c.2730+309T>G (n.2730+309T>G)
c.2415T>G (p.Gly805=)
c.1497T>G (p.Gly499=)
n.3048T>G
13g.51949698A>GCA484024474ATP7Bc.*662T>C (n.*662T>C)
c.*1573T>C (n.*1573T>C)
c.2244+309T>C (n.2244+309T>C)
c.2829T>C (p.Gly943=)
c.2496T>C (p.Gly832=)
c.2577T>C (p.Gly859=)
c.2595T>C (p.Gly865=)
n.9T>C
c.1800+309T>C (n.1800+309T>C)
c.1539T>C (p.Gly513=)
c.790T>C
n.3609+18T>C
n.2174T>C
c.2685T>C (p.Gly895=)
n.212-3220T>C
c.2733T>C (p.Gly911=)
c.2793T>C (p.Gly931=)
c.2343T>C (p.Gly781=)
c.645T>C (p.Gly215=)
c.2730+309T>C (n.2730+309T>C)
c.2415T>C (p.Gly805=)
c.1497T>C (p.Gly499=)
n.3048T>C
 ClinVar
13g.51949698A>TCA484024475ATP7Bc.*662T>A (n.*662T>A)
c.*1573T>A (n.*1573T>A)
c.2244+309T>A (n.2244+309T>A)
c.2829T>A (p.Gly943=)
c.2496T>A (p.Gly832=)
c.2577T>A (p.Gly859=)
c.2595T>A (p.Gly865=)
n.9T>A
c.1800+309T>A (n.1800+309T>A)
c.1539T>A (p.Gly513=)
c.790T>A
n.3609+18T>A
n.2174T>A
c.2685T>A (p.Gly895=)
n.212-3220T>A
c.2733T>A (p.Gly911=)
c.2793T>A (p.Gly931=)
c.2343T>A (p.Gly781=)
c.645T>A (p.Gly215=)
c.2730+309T>A (n.2730+309T>A)
c.2415T>A (p.Gly805=)
c.1497T>A (p.Gly499=)
n.3048T>A
13g.51949699C>ACA388033408ATP7Bc.*661G>T (n.*661G>T)
c.*1572G>T (n.*1572G>T)
c.2244+308G>T (n.2244+308G>T)
c.2828G>T (p.Gly943Val)
c.2495G>T (p.Gly832Val)
c.2576G>T (p.Gly859Val)
c.2594G>T (p.Gly865Val)
n.8G>T
c.1800+308G>T (n.1800+308G>T)
c.1538G>T (p.Gly513Val)
c.789G>T
n.3609+17G>T
n.2173G>T
c.2684G>T (p.Gly895Val)
n.212-3221G>T
c.2732G>T (p.Gly911Val)
c.2792G>T (p.Gly931Val)
c.2342G>T (p.Gly781Val)
c.644G>T (p.Gly215Val)
c.2730+308G>T (n.2730+308G>T)
c.2414G>T (p.Gly805Val)
c.1496G>T (p.Gly499Val)
n.3047G>T
13g.51949699C=CA2091541344ATP7Bc.*661G= (n.*661G=)
c.*1572G= (n.*1572G=)
c.2244+308G= (n.2244+308G=)
c.2828G= (p.Gly943=)
c.2495G= (p.Gly832=)
c.2576G= (p.Gly859=)
c.2594G= (p.Gly865=)
n.8G=
c.1800+308G= (n.1800+308G=)
c.1538G= (p.Gly513=)
c.789G=
n.3609+17G=
n.2173G=
c.2684G= (p.Gly895=)
n.212-3221G=
c.2732G= (p.Gly911=)
c.2792G= (p.Gly931=)
c.2342G= (p.Gly781=)
c.644G= (p.Gly215=)
c.2730+308G= (n.2730+308G=)
c.2414G= (p.Gly805=)
c.1496G= (p.Gly499=)
n.3047G=
13g.51949699C>GCA388033411ATP7Bc.*661G>C (n.*661G>C)
c.*1572G>C (n.*1572G>C)
c.2244+308G>C (n.2244+308G>C)
c.2828G>C (p.Gly943Ala)
c.2495G>C (p.Gly832Ala)
c.2576G>C (p.Gly859Ala)
c.2594G>C (p.Gly865Ala)
n.8G>C
c.1800+308G>C (n.1800+308G>C)
c.1538G>C (p.Gly513Ala)
c.789G>C
n.3609+17G>C
n.2173G>C
c.2684G>C (p.Gly895Ala)
n.212-3221G>C
c.2732G>C (p.Gly911Ala)
c.2792G>C (p.Gly931Ala)
c.2342G>C (p.Gly781Ala)
c.644G>C (p.Gly215Ala)
c.2730+308G>C (n.2730+308G>C)
c.2414G>C (p.Gly805Ala)
c.1496G>C (p.Gly499Ala)
n.3047G>C
13g.51949699C>TCA274329ATP7Bc.*661G>A (n.*661G>A)
c.*1572G>A (n.*1572G>A)
c.2244+308G>A (n.2244+308G>A)
c.2828G>A (p.Gly943Asp)
c.2495G>A (p.Gly832Asp)
c.2576G>A (p.Gly859Asp)
c.2594G>A (p.Gly865Asp)
n.8G>A
c.1800+308G>A (n.1800+308G>A)
c.1538G>A (p.Gly513Asp)
c.789G>A
n.3609+17G>A
n.2173G>A
c.2684G>A (p.Gly895Asp)
n.212-3221G>A
c.2732G>A (p.Gly911Asp)
c.2792G>A (p.Gly931Asp)
c.2342G>A (p.Gly781Asp)
c.644G>A (p.Gly215Asp)
c.2730+308G>A (n.2730+308G>A)
c.2414G>A (p.Gly805Asp)
c.1496G>A (p.Gly499Asp)
n.3047G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949700C>ACA388033415ATP7Bc.*660G>T (n.*660G>T)
c.*1571G>T (n.*1571G>T)
c.2244+307G>T (n.2244+307G>T)
c.2827G>T (p.Gly943Cys)
c.2494G>T (p.Gly832Cys)
c.2575G>T (p.Gly859Cys)
c.2593G>T (p.Gly865Cys)
n.7G>T
c.1800+307G>T (n.1800+307G>T)
c.1537G>T (p.Gly513Cys)
c.788G>T
n.3609+16G>T
n.2172G>T
c.2683G>T (p.Gly895Cys)
n.212-3222G>T
c.2731G>T (p.Gly911Cys)
c.2791G>T (p.Gly931Cys)
c.2341G>T (p.Gly781Cys)
c.643G>T (p.Gly215Cys)
c.2730+307G>T (n.2730+307G>T)
c.2413G>T (p.Gly805Cys)
c.1495G>T (p.Gly499Cys)
n.3046G>T
 ClinVar dbSNP gnomAD v4
13g.51949700C=CA2091541351ATP7Bc.*660G= (n.*660G=)
c.*1571G= (n.*1571G=)
c.2244+307G= (n.2244+307G=)
c.2827G= (p.Gly943=)
c.2494G= (p.Gly832=)
c.2575G= (p.Gly859=)
c.2593G= (p.Gly865=)
n.7G=
c.1800+307G= (n.1800+307G=)
c.1537G= (p.Gly513=)
c.788G=
n.3609+16G=
n.2172G=
c.2683G= (p.Gly895=)
n.212-3222G=
c.2731G= (p.Gly911=)
c.2791G= (p.Gly931=)
c.2341G= (p.Gly781=)
c.643G= (p.Gly215=)
c.2730+307G= (n.2730+307G=)
c.2413G= (p.Gly805=)
c.1495G= (p.Gly499=)
n.3046G=
13g.51949700C>GCA388033418ATP7Bc.*660G>C (n.*660G>C)
c.*1571G>C (n.*1571G>C)
c.2244+307G>C (n.2244+307G>C)
c.2827G>C (p.Gly943Arg)
c.2494G>C (p.Gly832Arg)
c.2575G>C (p.Gly859Arg)
c.2593G>C (p.Gly865Arg)
n.7G>C
c.1800+307G>C (n.1800+307G>C)
c.1537G>C (p.Gly513Arg)
c.788G>C
n.3609+16G>C
n.2172G>C
c.2683G>C (p.Gly895Arg)
n.212-3222G>C
c.2731G>C (p.Gly911Arg)
c.2791G>C (p.Gly931Arg)
c.2341G>C (p.Gly781Arg)
c.643G>C (p.Gly215Arg)
c.2730+307G>C (n.2730+307G>C)
c.2413G>C (p.Gly805Arg)
c.1495G>C (p.Gly499Arg)
n.3046G>C
 dbSNP gnomAD v4
13g.51949700C>TCA252894ATP7Bc.*660G>A (n.*660G>A)
c.*1571G>A (n.*1571G>A)
c.2244+307G>A (n.2244+307G>A)
c.2827G>A (p.Gly943Ser)
c.2494G>A (p.Gly832Ser)
c.2575G>A (p.Gly859Ser)
c.2593G>A (p.Gly865Ser)
n.7G>A
c.1800+307G>A (n.1800+307G>A)
c.1537G>A (p.Gly513Ser)
c.788G>A
n.3609+16G>A
n.2172G>A
c.2683G>A (p.Gly895Ser)
n.212-3222G>A
c.2731G>A (p.Gly911Ser)
c.2791G>A (p.Gly931Ser)
c.2341G>A (p.Gly781Ser)
c.643G>A (p.Gly215Ser)
c.2730+307G>A (n.2730+307G>A)
c.2413G>A (p.Gly805Ser)
c.1495G>A (p.Gly499Ser)
n.3046G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51949701G>ACA6988901ATP7Bc.*659C>T (n.*659C>T)
c.*1570C>T (n.*1570C>T)
c.2244+306C>T (n.2244+306C>T)
c.2826C>T (p.Ile942=)
c.2493C>T (p.Ile831=)
c.2574C>T (p.Ile858=)
c.2592C>T (p.Ile864=)
n.6C>T
c.1800+306C>T (n.1800+306C>T)
c.1536C>T (p.Ile512=)
c.787C>T
n.3609+15C>T
n.2171C>T
c.2682C>T (p.Ile894=)
n.212-3223C>T
c.2730C>T (p.Ile910=)
c.2790C>T (p.Ile930=)
c.2340C>T (p.Ile780=)
c.642C>T (p.Ile214=)
c.2730+306C>T (n.2730+306C>T)
c.2412C>T (p.Ile804=)
c.1494C>T (p.Ile498=)
n.3045C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949701G>CCA388033423ATP7Bc.*659C>G (n.*659C>G)
c.*1570C>G (n.*1570C>G)
c.2244+306C>G (n.2244+306C>G)
c.2826C>G (p.Ile942Met)
c.2493C>G (p.Ile831Met)
c.2574C>G (p.Ile858Met)
c.2592C>G (p.Ile864Met)
n.6C>G
c.1800+306C>G (n.1800+306C>G)
c.1536C>G (p.Ile512Met)
c.787C>G
n.3609+15C>G
n.2171C>G
c.2682C>G (p.Ile894Met)
n.212-3223C>G
c.2730C>G (p.Ile910Met)
c.2790C>G (p.Ile930Met)
c.2340C>G (p.Ile780Met)
c.642C>G (p.Ile214Met)
c.2730+306C>G (n.2730+306C>G)
c.2412C>G (p.Ile804Met)
c.1494C>G (p.Ile498Met)
n.3045C>G
13g.51949701G=CA2091541358ATP7Bc.*659C= (n.*659C=)
c.*1570C= (n.*1570C=)
c.2244+306C= (n.2244+306C=)
c.2826C= (p.Ile942=)
c.2493C= (p.Ile831=)
c.2574C= (p.Ile858=)
c.2592C= (p.Ile864=)
n.6C=
c.1800+306C= (n.1800+306C=)
c.1536C= (p.Ile512=)
c.787C=
n.3609+15C=
n.2171C=
c.2682C= (p.Ile894=)
n.212-3223C=
c.2730C= (p.Ile910=)
c.2790C= (p.Ile930=)
c.2340C= (p.Ile780=)
c.642C= (p.Ile214=)
c.2730+306C= (n.2730+306C=)
c.2412C= (p.Ile804=)
c.1494C= (p.Ile498=)
n.3045C=
13g.51949701G>TCA6988902ATP7Bc.*659C>A (n.*659C>A)
c.*1570C>A (n.*1570C>A)
c.2244+306C>A (n.2244+306C>A)
c.2826C>A (p.Ile942=)
c.2493C>A (p.Ile831=)
c.2574C>A (p.Ile858=)
c.2592C>A (p.Ile864=)
n.6C>A
c.1800+306C>A (n.1800+306C>A)
c.1536C>A (p.Ile512=)
c.787C>A
n.3609+15C>A
n.2171C>A
c.2682C>A (p.Ile894=)
n.212-3223C>A
c.2730C>A (p.Ile910=)
c.2790C>A (p.Ile930=)
c.2340C>A (p.Ile780=)
c.642C>A (p.Ile214=)
c.2730+306C>A (n.2730+306C>A)
c.2412C>A (p.Ile804=)
c.1494C>A (p.Ile498=)
n.3045C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949702A>CCA388033435ATP7Bc.*658T>G (n.*658T>G)
c.*1569T>G (n.*1569T>G)
c.2244+305T>G (n.2244+305T>G)
c.2825T>G (p.Ile942Ser)
c.2492T>G (p.Ile831Ser)
c.2573T>G (p.Ile858Ser)
c.2591T>G (p.Ile864Ser)
n.5T>G
c.1800+305T>G (n.1800+305T>G)
c.1535T>G (p.Ile512Ser)
c.786T>G
n.3609+14T>G
n.2170T>G
c.2681T>G (p.Ile894Ser)
n.212-3224T>G
c.2729T>G (p.Ile910Ser)
c.2789T>G (p.Ile930Ser)
c.2339T>G (p.Ile780Ser)
c.641T>G (p.Ile214Ser)
c.2730+305T>G (n.2730+305T>G)
c.2411T>G (p.Ile804Ser)
c.1493T>G (p.Ile498Ser)
n.3044T>G
13g.51949702A>GCA388033431ATP7Bc.*658T>C (n.*658T>C)
c.*1569T>C (n.*1569T>C)
c.2244+305T>C (n.2244+305T>C)
c.2825T>C (p.Ile942Thr)
c.2492T>C (p.Ile831Thr)
c.2573T>C (p.Ile858Thr)
c.2591T>C (p.Ile864Thr)
n.5T>C
c.1800+305T>C (n.1800+305T>C)
c.1535T>C (p.Ile512Thr)
c.786T>C
n.3609+14T>C
n.2170T>C
c.2681T>C (p.Ile894Thr)
n.212-3224T>C
c.2729T>C (p.Ile910Thr)
c.2789T>C (p.Ile930Thr)
c.2339T>C (p.Ile780Thr)
c.641T>C (p.Ile214Thr)
c.2730+305T>C (n.2730+305T>C)
c.2411T>C (p.Ile804Thr)
c.1493T>C (p.Ile498Thr)
n.3044T>C
13g.51949702A>TCA388033428ATP7Bc.*658T>A (n.*658T>A)
c.*1569T>A (n.*1569T>A)
c.2244+305T>A (n.2244+305T>A)
c.2825T>A (p.Ile942Asn)
c.2492T>A (p.Ile831Asn)
c.2573T>A (p.Ile858Asn)
c.2591T>A (p.Ile864Asn)
n.5T>A
c.1800+305T>A (n.1800+305T>A)
c.1535T>A (p.Ile512Asn)
c.786T>A
n.3609+14T>A
n.2170T>A
c.2681T>A (p.Ile894Asn)
n.212-3224T>A
c.2729T>A (p.Ile910Asn)
c.2789T>A (p.Ile930Asn)
c.2339T>A (p.Ile780Asn)
c.641T>A (p.Ile214Asn)
c.2730+305T>A (n.2730+305T>A)
c.2411T>A (p.Ile804Asn)
c.1493T>A (p.Ile498Asn)
n.3044T>A
13g.51949703T>ACA388033449ATP7Bc.*657A>T (n.*657A>T)
c.*1568A>T (n.*1568A>T)
c.2244+304A>T (n.2244+304A>T)
c.2824A>T (p.Ile942Phe)
c.2491A>T (p.Ile831Phe)
c.2572A>T (p.Ile858Phe)
c.2590A>T (p.Ile864Phe)
n.4A>T
c.1800+304A>T (n.1800+304A>T)
c.1534A>T (p.Ile512Phe)
c.785A>T
n.3609+13A>T
n.2169A>T
c.2680A>T (p.Ile894Phe)
n.212-3225A>T
c.2728A>T (p.Ile910Phe)
c.2788A>T (p.Ile930Phe)
c.2338A>T (p.Ile780Phe)
c.640A>T (p.Ile214Phe)
c.2730+304A>T (n.2730+304A>T)
c.2410A>T (p.Ile804Phe)
c.1492A>T (p.Ile498Phe)
n.3043A>T
13g.51949703T>CCA388033452ATP7Bc.*657A>G (n.*657A>G)
c.*1568A>G (n.*1568A>G)
c.2244+304A>G (n.2244+304A>G)
c.2824A>G (p.Ile942Val)
c.2491A>G (p.Ile831Val)
c.2572A>G (p.Ile858Val)
c.2590A>G (p.Ile864Val)
n.4A>G
c.1800+304A>G (n.1800+304A>G)
c.1534A>G (p.Ile512Val)
c.785A>G
n.3609+13A>G
n.2169A>G
c.2680A>G (p.Ile894Val)
n.212-3225A>G
c.2728A>G (p.Ile910Val)
c.2788A>G (p.Ile930Val)
c.2338A>G (p.Ile780Val)
c.640A>G (p.Ile214Val)
c.2730+304A>G (n.2730+304A>G)
c.2410A>G (p.Ile804Val)
c.1492A>G (p.Ile498Val)
n.3043A>G
13g.51949703T>GCA388033460ATP7Bc.*657A>C (n.*657A>C)
c.*1568A>C (n.*1568A>C)
c.2244+304A>C (n.2244+304A>C)
c.2824A>C (p.Ile942Leu)
c.2491A>C (p.Ile831Leu)
c.2572A>C (p.Ile858Leu)
c.2590A>C (p.Ile864Leu)
n.4A>C
c.1800+304A>C (n.1800+304A>C)
c.1534A>C (p.Ile512Leu)
c.785A>C
n.3609+13A>C
n.2169A>C
c.2680A>C (p.Ile894Leu)
n.212-3225A>C
c.2728A>C (p.Ile910Leu)
c.2788A>C (p.Ile930Leu)
c.2338A>C (p.Ile780Leu)
c.640A>C (p.Ile214Leu)
c.2730+304A>C (n.2730+304A>C)
c.2410A>C (p.Ile804Leu)
c.1492A>C (p.Ile498Leu)
n.3043A>C
13g.51949704T>ACA484024483ATP7Bc.*656A>T (n.*656A>T)
c.*1567A>T (n.*1567A>T)
c.2244+303A>T (n.2244+303A>T)
c.2823A>T (p.Val941=)
c.2490A>T (p.Val830=)
c.2571A>T (p.Val857=)
c.2589A>T (p.Val863=)
n.3A>T
c.1800+303A>T (n.1800+303A>T)
c.1533A>T (p.Val511=)
c.784A>T
n.3609+12A>T
n.2168A>T
c.2679A>T (p.Val893=)
n.212-3226A>T
c.2727A>T (p.Val909=)
c.2787A>T (p.Val929=)
c.2337A>T (p.Val779=)
c.639A>T (p.Val213=)
c.2730+303A>T (n.2730+303A>T)
c.2409A>T (p.Val803=)
c.1491A>T (p.Val497=)
n.3042A>T
13g.51949704T>CCA484024484ATP7Bc.*656A>G (n.*656A>G)
c.*1567A>G (n.*1567A>G)
c.2244+303A>G (n.2244+303A>G)
c.2823A>G (p.Val941=)
c.2490A>G (p.Val830=)
c.2571A>G (p.Val857=)
c.2589A>G (p.Val863=)
n.3A>G
c.1800+303A>G (n.1800+303A>G)
c.1533A>G (p.Val511=)
c.784A>G
n.3609+12A>G
n.2168A>G
c.2679A>G (p.Val893=)
n.212-3226A>G
c.2727A>G (p.Val909=)
c.2787A>G (p.Val929=)
c.2337A>G (p.Val779=)
c.639A>G (p.Val213=)
c.2730+303A>G (n.2730+303A>G)
c.2409A>G (p.Val803=)
c.1491A>G (p.Val497=)
n.3042A>G
13g.51949704T>GCA484024485ATP7Bc.*656A>C (n.*656A>C)
c.*1567A>C (n.*1567A>C)
c.2244+303A>C (n.2244+303A>C)
c.2823A>C (p.Val941=)
c.2490A>C (p.Val830=)
c.2571A>C (p.Val857=)
c.2589A>C (p.Val863=)
n.3A>C
c.1800+303A>C (n.1800+303A>C)
c.1533A>C (p.Val511=)
c.784A>C
n.3609+12A>C
n.2168A>C
c.2679A>C (p.Val893=)
n.212-3226A>C
c.2727A>C (p.Val909=)
c.2787A>C (p.Val929=)
c.2337A>C (p.Val779=)
c.639A>C (p.Val213=)
c.2730+303A>C (n.2730+303A>C)
c.2409A>C (p.Val803=)
c.1491A>C (p.Val497=)
n.3042A>C
 ClinVar dbSNP
13g.51949705A>CCA388033463ATP7Bc.*655T>G (n.*655T>G)
c.*1566T>G (n.*1566T>G)
c.2244+302T>G (n.2244+302T>G)
c.2822T>G (p.Val941Gly)
c.2489T>G (p.Val830Gly)
c.2570T>G (p.Val857Gly)
c.2588T>G (p.Val863Gly)
n.2T>G
c.1800+302T>G (n.1800+302T>G)
c.1532T>G (p.Val511Gly)
c.783T>G
n.3609+11T>G
n.2167T>G
c.2678T>G (p.Val893Gly)
n.212-3227T>G
c.2726T>G (p.Val909Gly)
c.2786T>G (p.Val929Gly)
c.2336T>G (p.Val779Gly)
c.638T>G (p.Val213Gly)
c.2730+302T>G (n.2730+302T>G)
c.2408T>G (p.Val803Gly)
c.1490T>G (p.Val497Gly)
n.3041T>G
13g.51949705A>GCA388033472ATP7Bc.*655T>C (n.*655T>C)
c.*1566T>C (n.*1566T>C)
c.2244+302T>C (n.2244+302T>C)
c.2822T>C (p.Val941Ala)
c.2489T>C (p.Val830Ala)
c.2570T>C (p.Val857Ala)
c.2588T>C (p.Val863Ala)
n.2T>C
c.1800+302T>C (n.1800+302T>C)
c.1532T>C (p.Val511Ala)
c.783T>C
n.3609+11T>C
n.2167T>C
c.2678T>C (p.Val893Ala)
n.212-3227T>C
c.2726T>C (p.Val909Ala)
c.2786T>C (p.Val929Ala)
c.2336T>C (p.Val779Ala)
c.638T>C (p.Val213Ala)
c.2730+302T>C (n.2730+302T>C)
c.2408T>C (p.Val803Ala)
c.1490T>C (p.Val497Ala)
n.3041T>C
13g.51949705A>TCA388033474ATP7Bc.*655T>A (n.*655T>A)
c.*1566T>A (n.*1566T>A)
c.2244+302T>A (n.2244+302T>A)
c.2822T>A (p.Val941Glu)
c.2489T>A (p.Val830Glu)
c.2570T>A (p.Val857Glu)
c.2588T>A (p.Val863Glu)
n.2T>A
c.1800+302T>A (n.1800+302T>A)
c.1532T>A (p.Val511Glu)
c.783T>A
n.3609+11T>A
n.2167T>A
c.2678T>A (p.Val893Glu)
n.212-3227T>A
c.2726T>A (p.Val909Glu)
c.2786T>A (p.Val929Glu)
c.2336T>A (p.Val779Glu)
c.638T>A (p.Val213Glu)
c.2730+302T>A (n.2730+302T>A)
c.2408T>A (p.Val803Glu)
c.1490T>A (p.Val497Glu)
n.3041T>A
13g.51949706C>ACA388033478ATP7Bc.*654G>T (n.*654G>T)
c.*1565G>T (n.*1565G>T)
c.2244+301G>T (n.2244+301G>T)
c.2821G>T (p.Val941Leu)
c.2488G>T (p.Val830Leu)
c.2569G>T (p.Val857Leu)
c.2587G>T (p.Val863Leu)
n.1G>T
c.1800+301G>T (n.1800+301G>T)
c.1531G>T (p.Val511Leu)
c.782G>T
n.3609+10G>T
n.2166G>T
c.2677G>T (p.Val893Leu)
n.212-3228G>T
c.2725G>T (p.Val909Leu)
c.2785G>T (p.Val929Leu)
c.2335G>T (p.Val779Leu)
c.637G>T (p.Val213Leu)
c.2730+301G>T (n.2730+301G>T)
c.2407G>T (p.Val803Leu)
c.1489G>T (p.Val497Leu)
n.3040G>T
 gnomAD v4
13g.51949706C>GCA388033480ATP7Bc.*654G>C (n.*654G>C)
c.*1565G>C (n.*1565G>C)
c.2244+301G>C (n.2244+301G>C)
c.2821G>C (p.Val941Leu)
c.2488G>C (p.Val830Leu)
c.2569G>C (p.Val857Leu)
c.2587G>C (p.Val863Leu)
n.1G>C
c.1800+301G>C (n.1800+301G>C)
c.1531G>C (p.Val511Leu)
c.782G>C
n.3609+10G>C
n.2166G>C
c.2677G>C (p.Val893Leu)
n.212-3228G>C
c.2725G>C (p.Val909Leu)
c.2785G>C (p.Val929Leu)
c.2335G>C (p.Val779Leu)
c.637G>C (p.Val213Leu)
c.2730+301G>C (n.2730+301G>C)
c.2407G>C (p.Val803Leu)
c.1489G>C (p.Val497Leu)
n.3040G>C
13g.51949706C>TCA388033482ATP7Bc.*654G>A (n.*654G>A)
c.*1565G>A (n.*1565G>A)
c.2244+301G>A (n.2244+301G>A)
c.2821G>A (p.Val941Ile)
c.2488G>A (p.Val830Ile)
c.2569G>A (p.Val857Ile)
c.2587G>A (p.Val863Ile)
n.1G>A
c.1800+301G>A (n.1800+301G>A)
c.1531G>A (p.Val511Ile)
c.782G>A
n.3609+10G>A
n.2166G>A
c.2677G>A (p.Val893Ile)
n.212-3228G>A
c.2725G>A (p.Val909Ile)
c.2785G>A (p.Val929Ile)
c.2335G>A (p.Val779Ile)
c.637G>A (p.Val213Ile)
c.2730+301G>A (n.2730+301G>A)
c.2407G>A (p.Val803Ile)
c.1489G>A (p.Val497Ile)
n.3040G>A
13g.51949709_51949721delCA2623118045ATP7Bc.*642_*654del (n.*642_*654del)
c.*1553_*1565del (n.*1553_*1565del)
c.2244+289_2244+301del (n.2244+289_2244+301del)
c.2809_2821del (p.Val937Ter)
c.2476_2488del (p.Val826Ter)
c.2557_2569del (p.Val853Ter)
c.2575_2587del (p.Val859Ter)
c.1800+289_1800+301del (n.1800+289_1800+301del)
c.1519_1531del (p.Val507Ter)
c.770_782del
n.3607_3609+10del
n.2154_2166del
c.2665_2677del (p.Val889Ter)
n.212-3240_212-3228del
c.2713_2725del (p.Val905Ter)
c.2773_2785del (p.Val925Ter)
c.2323_2335del (p.Val775Ter)
c.625_637del (p.Val209Ter)
c.2730+289_2730+301del (n.2730+289_2730+301del)
c.2395_2407del (p.Val799Ter)
c.1477_1489del (p.Val493Ter)
n.3028_3040del
 gnomAD v4
13g.51949707A>CCA388033483ATP7Bc.*653T>G (n.*653T>G)
c.*1564T>G (n.*1564T>G)
c.2244+300T>G (n.2244+300T>G)
c.2820T>G (p.Ile940Met)
c.2487T>G (p.Ile829Met)
c.2568T>G (p.Ile856Met)
c.2586T>G (p.Ile862Met)
c.1800+300T>G (n.1800+300T>G)
c.1530T>G (p.Ile510Met)
c.781T>G
n.3609+9T>G
n.2165T>G
c.2676T>G (p.Ile892Met)
n.212-3229T>G
c.2724T>G (p.Ile908Met)
c.2784T>G (p.Ile928Met)
c.2334T>G (p.Ile778Met)
c.636T>G (p.Ile212Met)
c.2730+300T>G (n.2730+300T>G)
c.2406T>G (p.Ile802Met)
c.1488T>G (p.Ile496Met)
n.3039T>G
13g.51949707A>GCA484024487ATP7Bc.*653T>C (n.*653T>C)
c.*1564T>C (n.*1564T>C)
c.2244+300T>C (n.2244+300T>C)
c.2820T>C (p.Ile940=)
c.2487T>C (p.Ile829=)
c.2568T>C (p.Ile856=)
c.2586T>C (p.Ile862=)
c.1800+300T>C (n.1800+300T>C)
c.1530T>C (p.Ile510=)
c.781T>C
n.3609+9T>C
n.2165T>C
c.2676T>C (p.Ile892=)
n.212-3229T>C
c.2724T>C (p.Ile908=)
c.2784T>C (p.Ile928=)
c.2334T>C (p.Ile778=)
c.636T>C (p.Ile212=)
c.2730+300T>C (n.2730+300T>C)
c.2406T>C (p.Ile802=)
c.1488T>C (p.Ile496=)
n.3039T>C
13g.51949707A>TCA484024488ATP7Bc.*653T>A (n.*653T>A)
c.*1564T>A (n.*1564T>A)
c.2244+300T>A (n.2244+300T>A)
c.2820T>A (p.Ile940=)
c.2487T>A (p.Ile829=)
c.2568T>A (p.Ile856=)
c.2586T>A (p.Ile862=)
c.1800+300T>A (n.1800+300T>A)
c.1530T>A (p.Ile510=)
c.781T>A
n.3609+9T>A
n.2165T>A
c.2676T>A (p.Ile892=)
n.212-3229T>A
c.2724T>A (p.Ile908=)
c.2784T>A (p.Ile928=)
c.2334T>A (p.Ile778=)
c.636T>A (p.Ile212=)
c.2730+300T>A (n.2730+300T>A)
c.2406T>A (p.Ile802=)
c.1488T>A (p.Ile496=)
n.3039T>A
13g.51949708A=CA2091541360ATP7Bc.*652T= (n.*652T=)
c.*1563T= (n.*1563T=)
c.2244+299T= (n.2244+299T=)
c.2819T= (p.Ile940=)
c.2486T= (p.Ile829=)
c.2567T= (p.Ile856=)
c.2585T= (p.Ile862=)
c.1800+299T= (n.1800+299T=)
c.1529T= (p.Ile510=)
c.780T=
n.3609+8T=
n.2164T=
c.2675T= (p.Ile892=)
n.212-3230T=
c.2723T= (p.Ile908=)
c.2783T= (p.Ile928=)
c.2333T= (p.Ile778=)
c.635T= (p.Ile212=)
c.2730+299T= (n.2730+299T=)
c.2405T= (p.Ile802=)
c.1487T= (p.Ile496=)
n.3038T=
13g.51949708A>CCA388033486ATP7Bc.*652T>G (n.*652T>G)
c.*1563T>G (n.*1563T>G)
c.2244+299T>G (n.2244+299T>G)
c.2819T>G (p.Ile940Ser)
c.2486T>G (p.Ile829Ser)
c.2567T>G (p.Ile856Ser)
c.2585T>G (p.Ile862Ser)
c.1800+299T>G (n.1800+299T>G)
c.1529T>G (p.Ile510Ser)
c.780T>G
n.3609+8T>G
n.2164T>G
c.2675T>G (p.Ile892Ser)
n.212-3230T>G
c.2723T>G (p.Ile908Ser)
c.2783T>G (p.Ile928Ser)
c.2333T>G (p.Ile778Ser)
c.635T>G (p.Ile212Ser)
c.2730+299T>G (n.2730+299T>G)
c.2405T>G (p.Ile802Ser)
c.1487T>G (p.Ile496Ser)
n.3038T>G
13g.51949708A>GCA6988903ATP7Bc.*652T>C (n.*652T>C)
c.*1563T>C (n.*1563T>C)
c.2244+299T>C (n.2244+299T>C)
c.2819T>C (p.Ile940Thr)
c.2486T>C (p.Ile829Thr)
c.2567T>C (p.Ile856Thr)
c.2585T>C (p.Ile862Thr)
c.1800+299T>C (n.1800+299T>C)
c.1529T>C (p.Ile510Thr)
c.780T>C
n.3609+8T>C
n.2164T>C
c.2675T>C (p.Ile892Thr)
n.212-3230T>C
c.2723T>C (p.Ile908Thr)
c.2783T>C (p.Ile928Thr)
c.2333T>C (p.Ile778Thr)
c.635T>C (p.Ile212Thr)
c.2730+299T>C (n.2730+299T>C)
c.2405T>C (p.Ile802Thr)
c.1487T>C (p.Ile496Thr)
n.3038T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51949708A>TCA388033497ATP7Bc.*652T>A (n.*652T>A)
c.*1563T>A (n.*1563T>A)
c.2244+299T>A (n.2244+299T>A)
c.2819T>A (p.Ile940Asn)
c.2486T>A (p.Ile829Asn)
c.2567T>A (p.Ile856Asn)
c.2585T>A (p.Ile862Asn)
c.1800+299T>A (n.1800+299T>A)
c.1529T>A (p.Ile510Asn)
c.780T>A
n.3609+8T>A
n.2164T>A
c.2675T>A (p.Ile892Asn)
n.212-3230T>A
c.2723T>A (p.Ile908Asn)
c.2783T>A (p.Ile928Asn)
c.2333T>A (p.Ile778Asn)
c.635T>A (p.Ile212Asn)
c.2730+299T>A (n.2730+299T>A)
c.2405T>A (p.Ile802Asn)
c.1487T>A (p.Ile496Asn)
n.3038T>A
13g.51949709T>ACA388033502ATP7Bc.*651A>T (n.*651A>T)
c.*1562A>T (n.*1562A>T)
c.2244+298A>T (n.2244+298A>T)
c.2818A>T (p.Ile940Phe)
c.2485A>T (p.Ile829Phe)
c.2566A>T (p.Ile856Phe)
c.2584A>T (p.Ile862Phe)
c.1800+298A>T (n.1800+298A>T)
c.1528A>T (p.Ile510Phe)
c.779A>T
n.3609+7A>T
n.2163A>T
c.2674A>T (p.Ile892Phe)
n.212-3231A>T
c.2722A>T (p.Ile908Phe)
c.2782A>T (p.Ile928Phe)
c.2332A>T (p.Ile778Phe)
c.634A>T (p.Ile212Phe)
c.2730+298A>T (n.2730+298A>T)
c.2404A>T (p.Ile802Phe)
c.1486A>T (p.Ile496Phe)
n.3037A>T
13g.51949709T>CCA388033504ATP7Bc.*651A>G (n.*651A>G)
c.*1562A>G (n.*1562A>G)
c.2244+298A>G (n.2244+298A>G)
c.2818A>G (p.Ile940Val)
c.2485A>G (p.Ile829Val)
c.2566A>G (p.Ile856Val)
c.2584A>G (p.Ile862Val)
c.1800+298A>G (n.1800+298A>G)
c.1528A>G (p.Ile510Val)
c.779A>G
n.3609+7A>G
n.2163A>G
c.2674A>G (p.Ile892Val)
n.212-3231A>G
c.2722A>G (p.Ile908Val)
c.2782A>G (p.Ile928Val)
c.2332A>G (p.Ile778Val)
c.634A>G (p.Ile212Val)
c.2730+298A>G (n.2730+298A>G)
c.2404A>G (p.Ile802Val)
c.1486A>G (p.Ile496Val)
n.3037A>G
13g.51949709T>GCA388033500ATP7Bc.*651A>C (n.*651A>C)
c.*1562A>C (n.*1562A>C)
c.2244+298A>C (n.2244+298A>C)
c.2818A>C (p.Ile940Leu)
c.2485A>C (p.Ile829Leu)
c.2566A>C (p.Ile856Leu)
c.2584A>C (p.Ile862Leu)
c.1800+298A>C (n.1800+298A>C)
c.1528A>C (p.Ile510Leu)
c.779A>C
n.3609+7A>C
n.2163A>C
c.2674A>C (p.Ile892Leu)
n.212-3231A>C
c.2722A>C (p.Ile908Leu)
c.2782A>C (p.Ile928Leu)
c.2332A>C (p.Ile778Leu)
c.634A>C (p.Ile212Leu)
c.2730+298A>C (n.2730+298A>C)
c.2404A>C (p.Ile802Leu)
c.1486A>C (p.Ile496Leu)
n.3037A>C
13g.51949710C>ACA16041667ATP7Bc.*650G>T (n.*650G>T)
c.*1561G>T (n.*1561G>T)
c.2244+297G>T (n.2244+297G>T)
c.2817G>T (p.Trp939Cys)
c.2484G>T (p.Trp828Cys)
c.2565G>T (p.Trp855Cys)
c.2583G>T (p.Trp861Cys)
c.1800+297G>T (n.1800+297G>T)
c.1527G>T (p.Trp509Cys)
c.778G>T
n.3609+6G>T
n.2162G>T
c.2673G>T (p.Trp891Cys)
n.212-3232G>T
c.2721G>T (p.Trp907Cys)
c.2781G>T (p.Trp927Cys)
c.2331G>T (p.Trp777Cys)
c.633G>T (p.Trp211Cys)
c.2730+297G>T (n.2730+297G>T)
c.2403G>T (p.Trp801Cys)
c.1485G>T (p.Trp495Cys)
n.3036G>T
 ClinVar dbSNP gnomAD v4
13g.51949710C=CA2091541365ATP7Bc.*650G= (n.*650G=)
c.*1561G= (n.*1561G=)
c.2244+297G= (n.2244+297G=)
c.2817G= (p.Trp939=)
c.2484G= (p.Trp828=)
c.2565G= (p.Trp855=)
c.2583G= (p.Trp861=)
c.1800+297G= (n.1800+297G=)
c.1527G= (p.Trp509=)
c.778G=
n.3609+6G=
n.2162G=
c.2673G= (p.Trp891=)
n.212-3232G=
c.2721G= (p.Trp907=)
c.2781G= (p.Trp927=)
c.2331G= (p.Trp777=)
c.633G= (p.Trp211=)
c.2730+297G= (n.2730+297G=)
c.2403G= (p.Trp801=)
c.1485G= (p.Trp495=)
n.3036G=
13g.51949710C>GCA388033509ATP7Bc.*650G>C (n.*650G>C)
c.*1561G>C (n.*1561G>C)
c.2244+297G>C (n.2244+297G>C)
c.2817G>C (p.Trp939Cys)
c.2484G>C (p.Trp828Cys)
c.2565G>C (p.Trp855Cys)
c.2583G>C (p.Trp861Cys)
c.1800+297G>C (n.1800+297G>C)
c.1527G>C (p.Trp509Cys)
c.778G>C
n.3609+6G>C
n.2162G>C
c.2673G>C (p.Trp891Cys)
n.212-3232G>C
c.2721G>C (p.Trp907Cys)
c.2781G>C (p.Trp927Cys)
c.2331G>C (p.Trp777Cys)
c.633G>C (p.Trp211Cys)
c.2730+297G>C (n.2730+297G>C)
c.2403G>C (p.Trp801Cys)
c.1485G>C (p.Trp495Cys)
n.3036G>C
 ClinVar dbSNP
13g.51949710C>TCA388033512ATP7Bc.*650G>A (n.*650G>A)
c.*1561G>A (n.*1561G>A)
c.2244+297G>A (n.2244+297G>A)
c.2817G>A (p.Trp939Ter)
c.2484G>A (p.Trp828Ter)
c.2565G>A (p.Trp855Ter)
c.2583G>A (p.Trp861Ter)
c.1800+297G>A (n.1800+297G>A)
c.1527G>A (p.Trp509Ter)
c.778G>A
n.3609+6G>A
n.2162G>A
c.2673G>A (p.Trp891Ter)
n.212-3232G>A
c.2721G>A (p.Trp907Ter)
c.2781G>A (p.Trp927Ter)
c.2331G>A (p.Trp777Ter)
c.633G>A (p.Trp211Ter)
c.2730+297G>A (n.2730+297G>A)
c.2403G>A (p.Trp801Ter)
c.1485G>A (p.Trp495Ter)
n.3036G>A
13g.51949711C>ACA388033515ATP7Bc.*649G>T (n.*649G>T)
c.*1560G>T (n.*1560G>T)
c.2244+296G>T (n.2244+296G>T)
c.2816G>T (p.Trp939Leu)
c.2483G>T (p.Trp828Leu)
c.2564G>T (p.Trp855Leu)
c.2582G>T (p.Trp861Leu)
c.1800+296G>T (n.1800+296G>T)
c.1526G>T (p.Trp509Leu)
c.777G>T
n.3609+5G>T
n.2161G>T
c.2672G>T (p.Trp891Leu)
n.212-3233G>T
c.2720G>T (p.Trp907Leu)
c.2780G>T (p.Trp927Leu)
c.2330G>T (p.Trp777Leu)
c.632G>T (p.Trp211Leu)
c.2730+296G>T (n.2730+296G>T)
c.2402G>T (p.Trp801Leu)
c.1484G>T (p.Trp495Leu)
n.3035G>T
 dbSNP
13g.51949711C=CA2091541371ATP7Bc.*649G= (n.*649G=)
c.*1560G= (n.*1560G=)
c.2244+296G= (n.2244+296G=)
c.2816G= (p.Trp939=)
c.2483G= (p.Trp828=)
c.2564G= (p.Trp855=)
c.2582G= (p.Trp861=)
c.1800+296G= (n.1800+296G=)
c.1526G= (p.Trp509=)
c.777G=
n.3609+5G=
n.2161G=
c.2672G= (p.Trp891=)
n.212-3233G=
c.2720G= (p.Trp907=)
c.2780G= (p.Trp927=)
c.2330G= (p.Trp777=)
c.632G= (p.Trp211=)
c.2730+296G= (n.2730+296G=)
c.2402G= (p.Trp801=)
c.1484G= (p.Trp495=)
n.3035G=
13g.51949711C>GCA388033517ATP7Bc.*649G>C (n.*649G>C)
c.*1560G>C (n.*1560G>C)
c.2244+296G>C (n.2244+296G>C)
c.2816G>C (p.Trp939Ser)
c.2483G>C (p.Trp828Ser)
c.2564G>C (p.Trp855Ser)
c.2582G>C (p.Trp861Ser)
c.1800+296G>C (n.1800+296G>C)
c.1526G>C (p.Trp509Ser)
c.777G>C
n.3609+5G>C
n.2161G>C
c.2672G>C (p.Trp891Ser)
n.212-3233G>C
c.2720G>C (p.Trp907Ser)
c.2780G>C (p.Trp927Ser)
c.2330G>C (p.Trp777Ser)
c.632G>C (p.Trp211Ser)
c.2730+296G>C (n.2730+296G>C)
c.2402G>C (p.Trp801Ser)
c.1484G>C (p.Trp495Ser)
n.3035G>C
13g.51949711C>TCA388033520ATP7Bc.*649G>A (n.*649G>A)
c.*1560G>A (n.*1560G>A)
c.2244+296G>A (n.2244+296G>A)
c.2816G>A (p.Trp939Ter)
c.2483G>A (p.Trp828Ter)
c.2564G>A (p.Trp855Ter)
c.2582G>A (p.Trp861Ter)
c.1800+296G>A (n.1800+296G>A)
c.1526G>A (p.Trp509Ter)
c.777G>A
n.3609+5G>A
n.2161G>A
c.2672G>A (p.Trp891Ter)
n.212-3233G>A
c.2720G>A (p.Trp907Ter)
c.2780G>A (p.Trp927Ter)
c.2330G>A (p.Trp777Ter)
c.632G>A (p.Trp211Ter)
c.2730+296G>A (n.2730+296G>A)
c.2402G>A (p.Trp801Ter)
c.1484G>A (p.Trp495Ter)
n.3035G>A
13g.51949711_51949712insTCA2695218779ATP7Bc.*648_*649insA (n.*648_*649insA)
c.*1559_*1560insA (n.*1559_*1560insA)
c.2244+295_2244+296insA (n.2244+295_2244+296insA)
c.2815_2816insA (p.Trp939Ter)
c.2482_2483insA (p.Trp828Ter)
c.2563_2564insA (p.Trp855Ter)
c.2581_2582insA (p.Trp861Ter)
c.1800+295_1800+296insA (n.1800+295_1800+296insA)
c.1525_1526insA (p.Trp509Ter)
c.776_777insA
n.3609+4_3609+5insA
n.2160_2161insA
c.2671_2672insA (p.Trp891Ter)
n.212-3234_212-3233insA
c.2719_2720insA (p.Trp907Ter)
c.2779_2780insA (p.Trp927Ter)
c.2329_2330insA (p.Trp777Ter)
c.631_632insA (p.Trp211Ter)
c.2730+295_2730+296insA (n.2730+295_2730+296insA)
c.2401_2402insA (p.Trp801Ter)
c.1483_1484insA (p.Trp495Ter)
n.3034_3035insA
13g.51949712A>CCA388033523ATP7Bc.*648T>G (n.*648T>G)
c.*1559T>G (n.*1559T>G)
c.2244+295T>G (n.2244+295T>G)
c.2815T>G (p.Trp939Gly)
c.2482T>G (p.Trp828Gly)
c.2563T>G (p.Trp855Gly)
c.2581T>G (p.Trp861Gly)
c.1800+295T>G (n.1800+295T>G)
c.1525T>G (p.Trp509Gly)
c.776T>G
n.3609+4T>G
n.2160T>G
c.2671T>G (p.Trp891Gly)
n.212-3234T>G
c.2719T>G (p.Trp907Gly)
c.2779T>G (p.Trp927Gly)
c.2329T>G (p.Trp777Gly)
c.631T>G (p.Trp211Gly)
c.2730+295T>G (n.2730+295T>G)
c.2401T>G (p.Trp801Gly)
c.1483T>G (p.Trp495Gly)
n.3034T>G
13g.51949712A>GCA388033525ATP7Bc.*648T>C (n.*648T>C)
c.*1559T>C (n.*1559T>C)
c.2244+295T>C (n.2244+295T>C)
c.2815T>C (p.Trp939Arg)
c.2482T>C (p.Trp828Arg)
c.2563T>C (p.Trp855Arg)
c.2581T>C (p.Trp861Arg)
c.1800+295T>C (n.1800+295T>C)
c.1525T>C (p.Trp509Arg)
c.776T>C
n.3609+4T>C
n.2160T>C
c.2671T>C (p.Trp891Arg)
n.212-3234T>C
c.2719T>C (p.Trp907Arg)
c.2779T>C (p.Trp927Arg)
c.2329T>C (p.Trp777Arg)
c.631T>C (p.Trp211Arg)
c.2730+295T>C (n.2730+295T>C)
c.2401T>C (p.Trp801Arg)
c.1483T>C (p.Trp495Arg)
n.3034T>C
 gnomAD v4
13g.51949712A>TCA388033527ATP7Bc.*648T>A (n.*648T>A)
c.*1559T>A (n.*1559T>A)
c.2244+295T>A (n.2244+295T>A)
c.2815T>A (p.Trp939Arg)
c.2482T>A (p.Trp828Arg)
c.2563T>A (p.Trp855Arg)
c.2581T>A (p.Trp861Arg)
c.1800+295T>A (n.1800+295T>A)
c.1525T>A (p.Trp509Arg)
c.776T>A
n.3609+4T>A
n.2160T>A
c.2671T>A (p.Trp891Arg)
n.212-3234T>A
c.2719T>A (p.Trp907Arg)
c.2779T>A (p.Trp927Arg)
c.2329T>A (p.Trp777Arg)
c.631T>A (p.Trp211Arg)
c.2730+295T>A (n.2730+295T>A)
c.2401T>A (p.Trp801Arg)
c.1483T>A (p.Trp495Arg)
n.3034T>A
13g.51949713T>ACA484024490ATP7Bc.*647A>T (n.*647A>T)
c.*1558A>T (n.*1558A>T)
c.2244+294A>T (n.2244+294A>T)
c.2814A>T (p.Val938=)
c.2481A>T (p.Val827=)
c.2562A>T (p.Val854=)
c.2580A>T (p.Val860=)
c.1800+294A>T (n.1800+294A>T)
c.1524A>T (p.Val508=)
c.775A>T
n.3609+3A>T
n.2159A>T
c.2670A>T (p.Val890=)
n.212-3235A>T
c.2718A>T (p.Val906=)
c.2778A>T (p.Val926=)
c.2328A>T (p.Val776=)
c.630A>T (p.Val210=)
c.2730+294A>T (n.2730+294A>T)
c.2400A>T (p.Val800=)
c.1482A>T (p.Val494=)
n.3033A>T
13g.51949713T>CCA484024491ATP7Bc.*647A>G (n.*647A>G)
c.*1558A>G (n.*1558A>G)
c.2244+294A>G (n.2244+294A>G)
c.2814A>G (p.Val938=)
c.2481A>G (p.Val827=)
c.2562A>G (p.Val854=)
c.2580A>G (p.Val860=)
c.1800+294A>G (n.1800+294A>G)
c.1524A>G (p.Val508=)
c.775A>G
n.3609+3A>G
n.2159A>G
c.2670A>G (p.Val890=)
n.212-3235A>G
c.2718A>G (p.Val906=)
c.2778A>G (p.Val926=)
c.2328A>G (p.Val776=)
c.630A>G (p.Val210=)
c.2730+294A>G (n.2730+294A>G)
c.2400A>G (p.Val800=)
c.1482A>G (p.Val494=)
n.3033A>G
13g.51949713T>GCA484024489ATP7Bc.*647A>C (n.*647A>C)
c.*1558A>C (n.*1558A>C)
c.2244+294A>C (n.2244+294A>C)
c.2814A>C (p.Val938=)
c.2481A>C (p.Val827=)
c.2562A>C (p.Val854=)
c.2580A>C (p.Val860=)
c.1800+294A>C (n.1800+294A>C)
c.1524A>C (p.Val508=)
c.775A>C
n.3609+3A>C
n.2159A>C
c.2670A>C (p.Val890=)
n.212-3235A>C
c.2718A>C (p.Val906=)
c.2778A>C (p.Val926=)
c.2328A>C (p.Val776=)
c.630A>C (p.Val210=)
c.2730+294A>C (n.2730+294A>C)
c.2400A>C (p.Val800=)
c.1482A>C (p.Val494=)
n.3033A>C
13g.51949714A>CCA388033530ATP7Bc.*646T>G (n.*646T>G)
c.*1557T>G (n.*1557T>G)
c.2244+293T>G (n.2244+293T>G)
c.2813T>G (p.Val938Gly)
c.2480T>G (p.Val827Gly)
c.2561T>G (p.Val854Gly)
c.2579T>G (p.Val860Gly)
c.1800+293T>G (n.1800+293T>G)
c.1523T>G (p.Val508Gly)
c.774T>G
n.3609+2T>G
n.2158T>G
c.2669T>G (p.Val890Gly)
n.212-3236T>G
c.2717T>G (p.Val906Gly)
c.2777T>G (p.Val926Gly)
c.2327T>G (p.Val776Gly)
c.629T>G (p.Val210Gly)
c.2730+293T>G (n.2730+293T>G)
c.2399T>G (p.Val800Gly)
c.1481T>G (p.Val494Gly)
n.3032T>G
13g.51949714A>GCA388033533ATP7Bc.*646T>C (n.*646T>C)
c.*1557T>C (n.*1557T>C)
c.2244+293T>C (n.2244+293T>C)
c.2813T>C (p.Val938Ala)
c.2480T>C (p.Val827Ala)
c.2561T>C (p.Val854Ala)
c.2579T>C (p.Val860Ala)
c.1800+293T>C (n.1800+293T>C)
c.1523T>C (p.Val508Ala)
c.774T>C
n.3609+2T>C
n.2158T>C
c.2669T>C (p.Val890Ala)
n.212-3236T>C
c.2717T>C (p.Val906Ala)
c.2777T>C (p.Val926Ala)
c.2327T>C (p.Val776Ala)
c.629T>C (p.Val210Ala)
c.2730+293T>C (n.2730+293T>C)
c.2399T>C (p.Val800Ala)
c.1481T>C (p.Val494Ala)
n.3032T>C
13g.51949714A>TCA388033535ATP7Bc.*646T>A (n.*646T>A)
c.*1557T>A (n.*1557T>A)
c.2244+293T>A (n.2244+293T>A)
c.2813T>A (p.Val938Glu)
c.2480T>A (p.Val827Glu)
c.2561T>A (p.Val854Glu)
c.2579T>A (p.Val860Glu)
c.1800+293T>A (n.1800+293T>A)
c.1523T>A (p.Val508Glu)
c.774T>A
n.3609+2T>A
n.2158T>A
c.2669T>A (p.Val890Glu)
n.212-3236T>A
c.2717T>A (p.Val906Glu)
c.2777T>A (p.Val926Glu)
c.2327T>A (p.Val776Glu)
c.629T>A (p.Val210Glu)
c.2730+293T>A (n.2730+293T>A)
c.2399T>A (p.Val800Glu)
c.1481T>A (p.Val494Glu)
n.3032T>A
13g.51949715C>ACA388033537ATP7Bc.*645G>T (n.*645G>T)
c.*1556G>T (n.*1556G>T)
c.2244+292G>T (n.2244+292G>T)
c.2812G>T (p.Val938Leu)
c.2479G>T (p.Val827Leu)
c.2560G>T (p.Val854Leu)
c.2578G>T (p.Val860Leu)
c.1800+292G>T (n.1800+292G>T)
c.1522G>T (p.Val508Leu)
c.773G>T
n.3609+1G>T
n.2157G>T
c.2668G>T (p.Val890Leu)
n.212-3237G>T
c.2716G>T (p.Val906Leu)
c.2776G>T (p.Val926Leu)
c.2326G>T (p.Val776Leu)
c.628G>T (p.Val210Leu)
c.2730+292G>T (n.2730+292G>T)
c.2398G>T (p.Val800Leu)
c.1480G>T (p.Val494Leu)
n.3031G>T
13g.51949715C=CA2091541375ATP7Bc.*645G= (n.*645G=)
c.*1556G= (n.*1556G=)
c.2244+292G= (n.2244+292G=)
c.2812G= (p.Val938=)
c.2479G= (p.Val827=)
c.2560G= (p.Val854=)
c.2578G= (p.Val860=)
c.1800+292G= (n.1800+292G=)
c.1522G= (p.Val508=)
c.773G=
n.3609+1G=
n.2157G=
c.2668G= (p.Val890=)
n.212-3237G=
c.2716G= (p.Val906=)
c.2776G= (p.Val926=)
c.2326G= (p.Val776=)
c.628G= (p.Val210=)
c.2730+292G= (n.2730+292G=)
c.2398G= (p.Val800=)
c.1480G= (p.Val494=)
n.3031G=
13g.51949715C>GCA388033540ATP7Bc.*645G>C (n.*645G>C)
c.*1556G>C (n.*1556G>C)
c.2244+292G>C (n.2244+292G>C)
c.2812G>C (p.Val938Leu)
c.2479G>C (p.Val827Leu)
c.2560G>C (p.Val854Leu)
c.2578G>C (p.Val860Leu)
c.1800+292G>C (n.1800+292G>C)
c.1522G>C (p.Val508Leu)
c.773G>C
n.3609+1G>C
n.2157G>C
c.2668G>C (p.Val890Leu)
n.212-3237G>C
c.2716G>C (p.Val906Leu)
c.2776G>C (p.Val926Leu)
c.2326G>C (p.Val776Leu)
c.628G>C (p.Val210Leu)
c.2730+292G>C (n.2730+292G>C)
c.2398G>C (p.Val800Leu)
c.1480G>C (p.Val494Leu)
n.3031G>C
13g.51949715C>TCA388033542ATP7Bc.*645G>A (n.*645G>A)
c.*1556G>A (n.*1556G>A)
c.2244+292G>A (n.2244+292G>A)
c.2812G>A (p.Val938Ile)
c.2479G>A (p.Val827Ile)
c.2560G>A (p.Val854Ile)
c.2578G>A (p.Val860Ile)
c.1800+292G>A (n.1800+292G>A)
c.1522G>A (p.Val508Ile)
c.773G>A
n.3609+1G>A
n.2157G>A
c.2668G>A (p.Val890Ile)
n.212-3237G>A
c.2716G>A (p.Val906Ile)
c.2776G>A (p.Val926Ile)
c.2326G>A (p.Val776Ile)
c.628G>A (p.Val210Ile)
c.2730+292G>A (n.2730+292G>A)
c.2398G>A (p.Val800Ile)
c.1480G>A (p.Val494Ile)
n.3031G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51949716C>ACA484024492ATP7Bc.*644G>T (n.*644G>T)
c.*1555G>T (n.*1555G>T)
c.2244+291G>T (n.2244+291G>T)
c.2811G>T (p.Val937=)
c.2478G>T (p.Val826=)
c.2559G>T (p.Val853=)
c.2577G>T (p.Val859=)
c.1800+291G>T (n.1800+291G>T)
c.1521G>T (p.Val507=)
c.772G>T
n.3609G>T
n.2156G>T
c.2667G>T (p.Val889=)
n.212-3238G>T
c.2715G>T (p.Val905=)
c.2775G>T (p.Val925=)
c.2325G>T (p.Val775=)
c.627G>T (p.Val209=)
c.2730+291G>T (n.2730+291G>T)
c.2397G>T (p.Val799=)
c.1479G>T (p.Val493=)
n.3030G>T
 gnomAD v4
13g.51949716C=CA2091541377ATP7Bc.*644G= (n.*644G=)
c.*1555G= (n.*1555G=)
c.2244+291G= (n.2244+291G=)
c.2811G= (p.Val937=)
c.2478G= (p.Val826=)
c.2559G= (p.Val853=)
c.2577G= (p.Val859=)
c.1800+291G= (n.1800+291G=)
c.1521G= (p.Val507=)
c.772G=
n.3609G=
n.2156G=
c.2667G= (p.Val889=)
n.212-3238G=
c.2715G= (p.Val905=)
c.2775G= (p.Val925=)
c.2325G= (p.Val775=)
c.627G= (p.Val209=)
c.2730+291G= (n.2730+291G=)
c.2397G= (p.Val799=)
c.1479G= (p.Val493=)
n.3030G=
13g.51949716C>GCA484024493ATP7Bc.*644G>C (n.*644G>C)
c.*1555G>C (n.*1555G>C)
c.2244+291G>C (n.2244+291G>C)
c.2811G>C (p.Val937=)
c.2478G>C (p.Val826=)
c.2559G>C (p.Val853=)
c.2577G>C (p.Val859=)
c.1800+291G>C (n.1800+291G>C)
c.1521G>C (p.Val507=)
c.772G>C
n.3609G>C
n.2156G>C
c.2667G>C (p.Val889=)
n.212-3238G>C
c.2715G>C (p.Val905=)
c.2775G>C (p.Val925=)
c.2325G>C (p.Val775=)
c.627G>C (p.Val209=)
c.2730+291G>C (n.2730+291G>C)
c.2397G>C (p.Val799=)
c.1479G>C (p.Val493=)
n.3030G>C
 gnomAD v4
13g.51949716C>TCA6988904ATP7Bc.*644G>A (n.*644G>A)
c.*1555G>A (n.*1555G>A)
c.2244+291G>A (n.2244+291G>A)
c.2811G>A (p.Val937=)
c.2478G>A (p.Val826=)
c.2559G>A (p.Val853=)
c.2577G>A (p.Val859=)
c.1800+291G>A (n.1800+291G>A)
c.1521G>A (p.Val507=)
c.772G>A
n.3609G>A
n.2156G>A
c.2667G>A (p.Val889=)
n.212-3238G>A
c.2715G>A (p.Val905=)
c.2775G>A (p.Val925=)
c.2325G>A (p.Val775=)
c.627G>A (p.Val209=)
c.2730+291G>A (n.2730+291G>A)
c.2397G>A (p.Val799=)
c.1479G>A (p.Val493=)
n.3030G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51949716_51949717delinsCACA2091541378ATP7Bc.*643_*644delinsTG (n.*643_*644delinsTG)
c.*1554_*1555delinsTG (n.*1554_*1555delinsTG)
c.2244+290_2244+291delinsTG (n.2244+290_2244+291delinsTG)
c.2810_2811delinsTG (p.Val937=)
c.2477_2478delinsTG (p.Val826=)
c.2558_2559delinsTG (p.Val853=)
c.2576_2577delinsTG (p.Val859=)
c.1800+290_1800+291delinsTG (n.1800+290_1800+291delinsTG)
c.1520_1521delinsTG (p.Val507=)
c.771_772delinsTG
n.3608_3609delinsTG
n.2155_2156delinsTG
c.2666_2667delinsTG (p.Val889=)
n.212-3239_212-3238delinsTG
c.2714_2715delinsTG (p.Val905=)
c.2774_2775delinsTG (p.Val925=)
c.2324_2325delinsTG (p.Val775=)
c.626_627delinsTG (p.Val209=)
c.2730+290_2730+291delinsTG (n.2730+290_2730+291delinsTG)
c.2396_2397delinsTG (p.Val799=)
c.1478_1479delinsTG (p.Val493=)
n.3029_3030delinsTG
13g.51949717delCA16041668ATP7Bc.*643del (n.*643del)
c.*1554del (n.*1554del)
c.2244+290del (n.2244+290del)
c.2810del (p.Val937GlyfsTer5)
c.2477del (p.Val826GlyfsTer5)
c.2558del (p.Val853GlyfsTer5)
c.2576del (p.Val859GlyfsTer5)
c.1800+290del (n.1800+290del)
c.1520del (p.Val507GlyfsTer5)
c.771del
n.3608del
n.2155del
c.2666del (p.Val889GlyfsTer5)
n.212-3239del
c.2714del (p.Val905GlyfsTer5)
c.2774del (p.Val925GlyfsTer5)
c.2324del (p.Val775GlyfsTer5)
c.626del (p.Val209GlyfsTer5)
c.2730+290del (n.2730+290del)
c.2396del (p.Val799GlyfsTer5)
c.1478del (p.Val493GlyfsTer5)
n.3029del
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51949717A>CCA388033554ATP7Bc.*643T>G (n.*643T>G)
c.*1554T>G (n.*1554T>G)
c.2244+290T>G (n.2244+290T>G)
c.2810T>G (p.Val937Gly)
c.2477T>G (p.Val826Gly)
c.2558T>G (p.Val853Gly)
c.2576T>G (p.Val859Gly)
c.1800+290T>G (n.1800+290T>G)
c.1520T>G (p.Val507Gly)
c.771T>G
n.3608T>G
n.2155T>G
c.2666T>G (p.Val889Gly)
n.212-3239T>G
c.2714T>G (p.Val905Gly)
c.2774T>G (p.Val925Gly)
c.2324T>G (p.Val775Gly)
c.626T>G (p.Val209Gly)
c.2730+290T>G (n.2730+290T>G)
c.2396T>G (p.Val799Gly)
c.1478T>G (p.Val493Gly)
n.3029T>G
13g.51949717A>GCA388033547ATP7Bc.*643T>C (n.*643T>C)
c.*1554T>C (n.*1554T>C)
c.2244+290T>C (n.2244+290T>C)
c.2810T>C (p.Val937Ala)
c.2477T>C (p.Val826Ala)
c.2558T>C (p.Val853Ala)
c.2576T>C (p.Val859Ala)
c.1800+290T>C (n.1800+290T>C)
c.1520T>C (p.Val507Ala)
c.771T>C
n.3608T>C
n.2155T>C
c.2666T>C (p.Val889Ala)
n.212-3239T>C
c.2714T>C (p.Val905Ala)
c.2774T>C (p.Val925Ala)
c.2324T>C (p.Val775Ala)
c.626T>C (p.Val209Ala)
c.2730+290T>C (n.2730+290T>C)
c.2396T>C (p.Val799Ala)
c.1478T>C (p.Val493Ala)
n.3029T>C
13g.51949717A>TCA388033550ATP7Bc.*643T>A (n.*643T>A)
c.*1554T>A (n.*1554T>A)
c.2244+290T>A (n.2244+290T>A)
c.2810T>A (p.Val937Glu)
c.2477T>A (p.Val826Glu)
c.2558T>A (p.Val853Glu)
c.2576T>A (p.Val859Glu)
c.1800+290T>A (n.1800+290T>A)
c.1520T>A (p.Val507Glu)
c.771T>A
n.3608T>A
n.2155T>A
c.2666T>A (p.Val889Glu)
n.212-3239T>A
c.2714T>A (p.Val905Glu)
c.2774T>A (p.Val925Glu)
c.2324T>A (p.Val775Glu)
c.626T>A (p.Val209Glu)
c.2730+290T>A (n.2730+290T>A)
c.2396T>A (p.Val799Glu)
c.1478T>A (p.Val493Glu)
n.3029T>A
13g.51949718C>ACA388033557ATP7Bc.*642G>T (n.*642G>T)
c.*1553G>T (n.*1553G>T)
c.2244+289G>T (n.2244+289G>T)
c.2809G>T (p.Val937Leu)
c.2476G>T (p.Val826Leu)
c.2557G>T (p.Val853Leu)
c.2575G>T (p.Val859Leu)
c.1800+289G>T (n.1800+289G>T)
c.1519G>T (p.Val507Leu)
c.770G>T
n.3607G>T
n.2154G>T
c.2665G>T (p.Val889Leu)
n.212-3240G>T
c.2713G>T (p.Val905Leu)
c.2773G>T (p.Val925Leu)
c.2323G>T (p.Val775Leu)
c.625G>T (p.Val209Leu)
c.2730+289G>T (n.2730+289G>T)
c.2395G>T (p.Val799Leu)
c.1477G>T (p.Val493Leu)
n.3028G>T
13g.51949718C>GCA388033559ATP7Bc.*642G>C (n.*642G>C)
c.*1553G>C (n.*1553G>C)
c.2244+289G>C (n.2244+289G>C)
c.2809G>C (p.Val937Leu)
c.2476G>C (p.Val826Leu)
c.2557G>C (p.Val853Leu)
c.2575G>C (p.Val859Leu)
c.1800+289G>C (n.1800+289G>C)
c.1519G>C (p.Val507Leu)
c.770G>C
n.3607G>C
n.2154G>C
c.2665G>C (p.Val889Leu)
n.212-3240G>C
c.2713G>C (p.Val905Leu)
c.2773G>C (p.Val925Leu)
c.2323G>C (p.Val775Leu)
c.625G>C (p.Val209Leu)
c.2730+289G>C (n.2730+289G>C)
c.2395G>C (p.Val799Leu)
c.1477G>C (p.Val493Leu)
n.3028G>C
13g.51949718C>TCA388033562ATP7Bc.*642G>A (n.*642G>A)
c.*1553G>A (n.*1553G>A)
c.2244+289G>A (n.2244+289G>A)
c.2809G>A (p.Val937Met)
c.2476G>A (p.Val826Met)
c.2557G>A (p.Val853Met)
c.2575G>A (p.Val859Met)
c.1800+289G>A (n.1800+289G>A)
c.1519G>A (p.Val507Met)
c.770G>A
n.3607G>A
n.2154G>A
c.2665G>A (p.Val889Met)
n.212-3240G>A
c.2713G>A (p.Val905Met)
c.2773G>A (p.Val925Met)
c.2323G>A (p.Val775Met)
c.625G>A (p.Val209Met)
c.2730+289G>A (n.2730+289G>A)
c.2395G>A (p.Val799Met)
c.1477G>A (p.Val493Met)
n.3028G>A
13g.51949719C>ACA388033569ATP7Bc.*641G>T (n.*641G>T)
c.*1552G>T (n.*1552G>T)
c.2244+288G>T (n.2244+288G>T)
c.2808G>T (p.Leu936Phe)
c.2475G>T (p.Leu825Phe)
c.2556G>T (p.Leu852Phe)
c.2574G>T (p.Leu858Phe)
c.1800+288G>T (n.1800+288G>T)
c.1518G>T (p.Leu506Phe)
c.769G>T
n.3606G>T
n.2153G>T
c.2664G>T (p.Leu888Phe)
n.212-3241G>T
c.2712G>T (p.Leu904Phe)
c.2772G>T (p.Leu924Phe)
c.2322G>T (p.Leu774Phe)
c.624G>T (p.Leu208Phe)
c.2730+288G>T (n.2730+288G>T)
c.2394G>T (p.Leu798Phe)
c.1476G>T (p.Leu492Phe)
n.3027G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949719C=CA2091541386ATP7Bc.*641G= (n.*641G=)
c.*1552G= (n.*1552G=)
c.2244+288G= (n.2244+288G=)
c.2808G= (p.Leu936=)
c.2475G= (p.Leu825=)
c.2556G= (p.Leu852=)
c.2574G= (p.Leu858=)
c.1800+288G= (n.1800+288G=)
c.1518G= (p.Leu506=)
c.769G=
n.3606G=
n.2153G=
c.2664G= (p.Leu888=)
n.212-3241G=
c.2712G= (p.Leu904=)
c.2772G= (p.Leu924=)
c.2322G= (p.Leu774=)
c.624G= (p.Leu208=)
c.2730+288G= (n.2730+288G=)
c.2394G= (p.Leu798=)
c.1476G= (p.Leu492=)
n.3027G=
13g.51949719C>GCA388033566ATP7Bc.*641G>C (n.*641G>C)
c.*1552G>C (n.*1552G>C)
c.2244+288G>C (n.2244+288G>C)
c.2808G>C (p.Leu936Phe)
c.2475G>C (p.Leu825Phe)
c.2556G>C (p.Leu852Phe)
c.2574G>C (p.Leu858Phe)
c.1800+288G>C (n.1800+288G>C)
c.1518G>C (p.Leu506Phe)
c.769G>C
n.3606G>C
n.2153G>C
c.2664G>C (p.Leu888Phe)
n.212-3241G>C
c.2712G>C (p.Leu904Phe)
c.2772G>C (p.Leu924Phe)
c.2322G>C (p.Leu774Phe)
c.624G>C (p.Leu208Phe)
c.2730+288G>C (n.2730+288G>C)
c.2394G>C (p.Leu798Phe)
c.1476G>C (p.Leu492Phe)
n.3027G>C
13g.51949719C>TCA484024494ATP7Bc.*641G>A (n.*641G>A)
c.*1552G>A (n.*1552G>A)
c.2244+288G>A (n.2244+288G>A)
c.2808G>A (p.Leu936=)
c.2475G>A (p.Leu825=)
c.2556G>A (p.Leu852=)
c.2574G>A (p.Leu858=)
c.1800+288G>A (n.1800+288G>A)
c.1518G>A (p.Leu506=)
c.769G>A
n.3606G>A
n.2153G>A
c.2664G>A (p.Leu888=)
n.212-3241G>A
c.2712G>A (p.Leu904=)
c.2772G>A (p.Leu924=)
c.2322G>A (p.Leu774=)
c.624G>A (p.Leu208=)
c.2730+288G>A (n.2730+288G>A)
c.2394G>A (p.Leu798=)
c.1476G>A (p.Leu492=)
n.3027G>A
 gnomAD v4
13g.51949720_51949722delCA2623118046ATP7Bc.*639_*641del (n.*639_*641del)
c.*1550_*1552del (n.*1550_*1552del)
c.2244+286_2244+288del (n.2244+286_2244+288del)
c.2806_2808del (p.Leu936del)
c.2473_2475del (p.Leu825del)
c.2554_2556del (p.Leu852del)
c.2572_2574del (p.Leu858del)
c.1800+286_1800+288del (n.1800+286_1800+288del)
c.1516_1518del (p.Leu506del)
c.767_769del
n.3604_3606del
n.2151_2153del
c.2662_2664del (p.Leu888del)
n.212-3243_212-3241del
c.2710_2712del (p.Leu904del)
c.2770_2772del (p.Leu924del)
c.2320_2322del (p.Leu774del)
c.622_624del (p.Leu208del)
c.2730+286_2730+288del (n.2730+286_2730+288del)
c.2392_2394del (p.Leu798del)
c.1474_1476del (p.Leu492del)
n.3025_3027del
 gnomAD v4
13g.51949720A=CA2091541390ATP7Bc.*640T= (n.*640T=)
c.*1551T= (n.*1551T=)
c.2244+287T= (n.2244+287T=)
c.2807T= (p.Leu936=)
c.2474T= (p.Leu825=)
c.2555T= (p.Leu852=)
c.2573T= (p.Leu858=)
c.1800+287T= (n.1800+287T=)
c.1517T= (p.Leu506=)
c.768T=
n.3605T=
n.2152T=
c.2663T= (p.Leu888=)
n.212-3242T=
c.2711T= (p.Leu904=)
c.2771T= (p.Leu924=)
c.2321T= (p.Leu774=)
c.623T= (p.Leu208=)
c.2730+287T= (n.2730+287T=)
c.2393T= (p.Leu798=)
c.1475T= (p.Leu492=)
n.3026T=
13g.51949720A>CCA388033572ATP7Bc.*640T>G (n.*640T>G)
c.*1551T>G (n.*1551T>G)
c.2244+287T>G (n.2244+287T>G)
c.2807T>G (p.Leu936Trp)
c.2474T>G (p.Leu825Trp)
c.2555T>G (p.Leu852Trp)
c.2573T>G (p.Leu858Trp)
c.1800+287T>G (n.1800+287T>G)
c.1517T>G (p.Leu506Trp)
c.768T>G
n.3605T>G
n.2152T>G
c.2663T>G (p.Leu888Trp)
n.212-3242T>G
c.2711T>G (p.Leu904Trp)
c.2771T>G (p.Leu924Trp)
c.2321T>G (p.Leu774Trp)
c.623T>G (p.Leu208Trp)
c.2730+287T>G (n.2730+287T>G)
c.2393T>G (p.Leu798Trp)
c.1475T>G (p.Leu492Trp)
n.3026T>G
13g.51949720A>GCA388033575ATP7Bc.*640T>C (n.*640T>C)
c.*1551T>C (n.*1551T>C)
c.2244+287T>C (n.2244+287T>C)
c.2807T>C (p.Leu936Ser)
c.2474T>C (p.Leu825Ser)
c.2555T>C (p.Leu852Ser)
c.2573T>C (p.Leu858Ser)
c.1800+287T>C (n.1800+287T>C)
c.1517T>C (p.Leu506Ser)
c.768T>C
n.3605T>C
n.2152T>C
c.2663T>C (p.Leu888Ser)
n.212-3242T>C
c.2711T>C (p.Leu904Ser)
c.2771T>C (p.Leu924Ser)
c.2321T>C (p.Leu774Ser)
c.623T>C (p.Leu208Ser)
c.2730+287T>C (n.2730+287T>C)
c.2393T>C (p.Leu798Ser)
c.1475T>C (p.Leu492Ser)
n.3026T>C
 gnomAD v4
13g.51949720A>TCA6988905ATP7Bc.*640T>A (n.*640T>A)
c.*1551T>A (n.*1551T>A)
c.2244+287T>A (n.2244+287T>A)
c.2807T>A (p.Leu936Ter)
c.2474T>A (p.Leu825Ter)
c.2555T>A (p.Leu852Ter)
c.2573T>A (p.Leu858Ter)
c.1800+287T>A (n.1800+287T>A)
c.1517T>A (p.Leu506Ter)
c.768T>A
n.3605T>A
n.2152T>A
c.2663T>A (p.Leu888Ter)
n.212-3242T>A
c.2711T>A (p.Leu904Ter)
c.2771T>A (p.Leu924Ter)
c.2321T>A (p.Leu774Ter)
c.623T>A (p.Leu208Ter)
c.2730+287T>A (n.2730+287T>A)
c.2393T>A (p.Leu798Ter)
c.1475T>A (p.Leu492Ter)
n.3026T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51949721A=CA2091541393ATP7Bc.*639T= (n.*639T=)
c.*1550T= (n.*1550T=)
c.2244+286T= (n.2244+286T=)
c.2806T= (p.Leu936=)
c.2473T= (p.Leu825=)
c.2554T= (p.Leu852=)
c.2572T= (p.Leu858=)
c.1800+286T= (n.1800+286T=)
c.1516T= (p.Leu506=)
c.767T=
n.3604T=
n.2151T=
c.2662T= (p.Leu888=)
n.212-3243T=
c.2710T= (p.Leu904=)
c.2770T= (p.Leu924=)
c.2320T= (p.Leu774=)
c.622T= (p.Leu208=)
c.2730+286T= (n.2730+286T=)
c.2392T= (p.Leu798=)
c.1474T= (p.Leu492=)
n.3025T=
13g.51949721A>CCA6988906ATP7Bc.*639T>G (n.*639T>G)
c.*1550T>G (n.*1550T>G)
c.2244+286T>G (n.2244+286T>G)
c.2806T>G (p.Leu936Val)
c.2473T>G (p.Leu825Val)
c.2554T>G (p.Leu852Val)
c.2572T>G (p.Leu858Val)
c.1800+286T>G (n.1800+286T>G)
c.1516T>G (p.Leu506Val)
c.767T>G
n.3604T>G
n.2151T>G
c.2662T>G (p.Leu888Val)
n.212-3243T>G
c.2710T>G (p.Leu904Val)
c.2770T>G (p.Leu924Val)
c.2320T>G (p.Leu774Val)
c.622T>G (p.Leu208Val)
c.2730+286T>G (n.2730+286T>G)
c.2392T>G (p.Leu798Val)
c.1474T>G (p.Leu492Val)
n.3025T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949721A>GCA484024495ATP7Bc.*639T>C (n.*639T>C)
c.*1550T>C (n.*1550T>C)
c.2244+286T>C (n.2244+286T>C)
c.2806T>C (p.Leu936=)
c.2473T>C (p.Leu825=)
c.2554T>C (p.Leu852=)
c.2572T>C (p.Leu858=)
c.1800+286T>C (n.1800+286T>C)
c.1516T>C (p.Leu506=)
c.767T>C
n.3604T>C
n.2151T>C
c.2662T>C (p.Leu888=)
n.212-3243T>C
c.2710T>C (p.Leu904=)
c.2770T>C (p.Leu924=)
c.2320T>C (p.Leu774=)
c.622T>C (p.Leu208=)
c.2730+286T>C (n.2730+286T>C)
c.2392T>C (p.Leu798=)
c.1474T>C (p.Leu492=)
n.3025T>C
13g.51949721A>TCA388033579ATP7Bc.*639T>A (n.*639T>A)
c.*1550T>A (n.*1550T>A)
c.2244+286T>A (n.2244+286T>A)
c.2806T>A (p.Leu936Met)
c.2473T>A (p.Leu825Met)
c.2554T>A (p.Leu852Met)
c.2572T>A (p.Leu858Met)
c.1800+286T>A (n.1800+286T>A)
c.1516T>A (p.Leu506Met)
c.767T>A
n.3604T>A
n.2151T>A
c.2662T>A (p.Leu888Met)
n.212-3243T>A
c.2710T>A (p.Leu904Met)
c.2770T>A (p.Leu924Met)
c.2320T>A (p.Leu774Met)
c.622T>A (p.Leu208Met)
c.2730+286T>A (n.2730+286T>A)
c.2392T>A (p.Leu798Met)
c.1474T>A (p.Leu492Met)
n.3025T>A
13g.51949722C>ACA484024496ATP7Bc.*638G>T (n.*638G>T)
c.*1549G>T (n.*1549G>T)
c.2244+285G>T (n.2244+285G>T)
c.2805G>T (p.Thr935=)
c.2472G>T (p.Thr824=)
c.2553G>T (p.Thr851=)
c.2571G>T (p.Thr857=)
c.1800+285G>T (n.1800+285G>T)
c.1515G>T (p.Thr505=)
c.766G>T
n.3603G>T
n.2150G>T
c.2661G>T (p.Thr887=)
n.212-3244G>T
c.2709G>T (p.Thr903=)
c.2769G>T (p.Thr923=)
c.2319G>T (p.Thr773=)
c.621G>T (p.Thr207=)
c.2730+285G>T (n.2730+285G>T)
c.2391G>T (p.Thr797=)
c.1473G>T (p.Thr491=)
n.3024G>T
13g.51949722C=CA2091541402ATP7Bc.*638G= (n.*638G=)
c.*1549G= (n.*1549G=)
c.2244+285G= (n.2244+285G=)
c.2805G= (p.Thr935=)
c.2472G= (p.Thr824=)
c.2553G= (p.Thr851=)
c.2571G= (p.Thr857=)
c.1800+285G= (n.1800+285G=)
c.1515G= (p.Thr505=)
c.766G=
n.3603G=
n.2150G=
c.2661G= (p.Thr887=)
n.212-3244G=
c.2709G= (p.Thr903=)
c.2769G= (p.Thr923=)
c.2319G= (p.Thr773=)
c.621G= (p.Thr207=)
c.2730+285G= (n.2730+285G=)
c.2391G= (p.Thr797=)
c.1473G= (p.Thr491=)
n.3024G=
13g.51949722C>GCA484024497ATP7Bc.*638G>C (n.*638G>C)
c.*1549G>C (n.*1549G>C)
c.2244+285G>C (n.2244+285G>C)
c.2805G>C (p.Thr935=)
c.2472G>C (p.Thr824=)
c.2553G>C (p.Thr851=)
c.2571G>C (p.Thr857=)
c.1800+285G>C (n.1800+285G>C)
c.1515G>C (p.Thr505=)
c.766G>C
n.3603G>C
n.2150G>C
c.2661G>C (p.Thr887=)
n.212-3244G>C
c.2709G>C (p.Thr903=)
c.2769G>C (p.Thr923=)
c.2319G>C (p.Thr773=)
c.621G>C (p.Thr207=)
c.2730+285G>C (n.2730+285G>C)
c.2391G>C (p.Thr797=)
c.1473G>C (p.Thr491=)
n.3024G>C
 dbSNP gnomAD v3 gnomAD v4
13g.51949722C>TCA6988907ATP7Bc.*638G>A (n.*638G>A)
c.*1549G>A (n.*1549G>A)
c.2244+285G>A (n.2244+285G>A)
c.2805G>A (p.Thr935=)
c.2472G>A (p.Thr824=)
c.2553G>A (p.Thr851=)
c.2571G>A (p.Thr857=)
c.1800+285G>A (n.1800+285G>A)
c.1515G>A (p.Thr505=)
c.766G>A
n.3603G>A
n.2150G>A
c.2661G>A (p.Thr887=)
n.212-3244G>A
c.2709G>A (p.Thr903=)
c.2769G>A (p.Thr923=)
c.2319G>A (p.Thr773=)
c.621G>A (p.Thr207=)
c.2730+285G>A (n.2730+285G>A)
c.2391G>A (p.Thr797=)
c.1473G>A (p.Thr491=)
n.3024G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51949723G>ACA273878ATP7Bc.*637C>T (n.*637C>T)
c.*1548C>T (n.*1548C>T)
c.2244+284C>T (n.2244+284C>T)
c.2804C>T (p.Thr935Met)
c.2471C>T (p.Thr824Met)
c.2552C>T (p.Thr851Met)
c.2570C>T (p.Thr857Met)
c.1800+284C>T (n.1800+284C>T)
c.1514C>T (p.Thr505Met)
c.765C>T
n.3602C>T
n.2149C>T
c.2660C>T (p.Thr887Met)
n.212-3245C>T
c.2708C>T (p.Thr903Met)
c.2768C>T (p.Thr923Met)
c.2318C>T (p.Thr773Met)
c.620C>T (p.Thr207Met)
c.2730+284C>T (n.2730+284C>T)
c.2390C>T (p.Thr797Met)
c.1472C>T (p.Thr491Met)
n.3023C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949723G>CCA388033585ATP7Bc.*637C>G (n.*637C>G)
c.*1548C>G (n.*1548C>G)
c.2244+284C>G (n.2244+284C>G)
c.2804C>G (p.Thr935Arg)
c.2471C>G (p.Thr824Arg)
c.2552C>G (p.Thr851Arg)
c.2570C>G (p.Thr857Arg)
c.1800+284C>G (n.1800+284C>G)
c.1514C>G (p.Thr505Arg)
c.765C>G
n.3602C>G
n.2149C>G
c.2660C>G (p.Thr887Arg)
n.212-3245C>G
c.2708C>G (p.Thr903Arg)
c.2768C>G (p.Thr923Arg)
c.2318C>G (p.Thr773Arg)
c.620C>G (p.Thr207Arg)
c.2730+284C>G (n.2730+284C>G)
c.2390C>G (p.Thr797Arg)
c.1472C>G (p.Thr491Arg)
n.3023C>G
13g.51949723G=CA2091541406ATP7Bc.*637C= (n.*637C=)
c.*1548C= (n.*1548C=)
c.2244+284C= (n.2244+284C=)
c.2804C= (p.Thr935=)
c.2471C= (p.Thr824=)
c.2552C= (p.Thr851=)
c.2570C= (p.Thr857=)
c.1800+284C= (n.1800+284C=)
c.1514C= (p.Thr505=)
c.765C=
n.3602C=
n.2149C=
c.2660C= (p.Thr887=)
n.212-3245C=
c.2708C= (p.Thr903=)
c.2768C= (p.Thr923=)
c.2318C= (p.Thr773=)
c.620C= (p.Thr207=)
c.2730+284C= (n.2730+284C=)
c.2390C= (p.Thr797=)
c.1472C= (p.Thr491=)
n.3023C=
13g.51949723G>TCA388033584ATP7Bc.*637C>A (n.*637C>A)
c.*1548C>A (n.*1548C>A)
c.2244+284C>A (n.2244+284C>A)
c.2804C>A (p.Thr935Lys)
c.2471C>A (p.Thr824Lys)
c.2552C>A (p.Thr851Lys)
c.2570C>A (p.Thr857Lys)
c.1800+284C>A (n.1800+284C>A)
c.1514C>A (p.Thr505Lys)
c.765C>A
n.3602C>A
n.2149C>A
c.2660C>A (p.Thr887Lys)
n.212-3245C>A
c.2708C>A (p.Thr903Lys)
c.2768C>A (p.Thr923Lys)
c.2318C>A (p.Thr773Lys)
c.620C>A (p.Thr207Lys)
c.2730+284C>A (n.2730+284C>A)
c.2390C>A (p.Thr797Lys)
c.1472C>A (p.Thr491Lys)
n.3023C>A
13g.51949724T>ACA388033588ATP7Bc.*636A>T (n.*636A>T)
c.*1547A>T (n.*1547A>T)
c.2244+283A>T (n.2244+283A>T)
c.2803A>T (p.Thr935Ser)
c.2470A>T (p.Thr824Ser)
c.2551A>T (p.Thr851Ser)
c.2569A>T (p.Thr857Ser)
c.1800+283A>T (n.1800+283A>T)
c.1513A>T (p.Thr505Ser)
c.764A>T
n.3601A>T
n.2148A>T
c.2659A>T (p.Thr887Ser)
n.212-3246A>T
c.2707A>T (p.Thr903Ser)
c.2767A>T (p.Thr923Ser)
c.2317A>T (p.Thr773Ser)
c.619A>T (p.Thr207Ser)
c.2730+283A>T (n.2730+283A>T)
c.2389A>T (p.Thr797Ser)
c.1471A>T (p.Thr491Ser)
n.3022A>T
13g.51949724T>CCA388033591ATP7Bc.*636A>G (n.*636A>G)
c.*1547A>G (n.*1547A>G)
c.2244+283A>G (n.2244+283A>G)
c.2803A>G (p.Thr935Ala)
c.2470A>G (p.Thr824Ala)
c.2551A>G (p.Thr851Ala)
c.2569A>G (p.Thr857Ala)
c.1800+283A>G (n.1800+283A>G)
c.1513A>G (p.Thr505Ala)
c.764A>G
n.3601A>G
n.2148A>G
c.2659A>G (p.Thr887Ala)
n.212-3246A>G
c.2707A>G (p.Thr903Ala)
c.2767A>G (p.Thr923Ala)
c.2317A>G (p.Thr773Ala)
c.619A>G (p.Thr207Ala)
c.2730+283A>G (n.2730+283A>G)
c.2389A>G (p.Thr797Ala)
c.1471A>G (p.Thr491Ala)
n.3022A>G
13g.51949724T>GCA388033594ATP7Bc.*636A>C (n.*636A>C)
c.*1547A>C (n.*1547A>C)
c.2244+283A>C (n.2244+283A>C)
c.2803A>C (p.Thr935Pro)
c.2470A>C (p.Thr824Pro)
c.2551A>C (p.Thr851Pro)
c.2569A>C (p.Thr857Pro)
c.1800+283A>C (n.1800+283A>C)
c.1513A>C (p.Thr505Pro)
c.764A>C
n.3601A>C
n.2148A>C
c.2659A>C (p.Thr887Pro)
n.212-3246A>C
c.2707A>C (p.Thr903Pro)
c.2767A>C (p.Thr923Pro)
c.2317A>C (p.Thr773Pro)
c.619A>C (p.Thr207Pro)
c.2730+283A>C (n.2730+283A>C)
c.2389A>C (p.Thr797Pro)
c.1471A>C (p.Thr491Pro)
n.3022A>C
13g.51949725C>ACA388033597ATP7Bc.*635G>T (n.*635G>T)
c.*1546G>T (n.*1546G>T)
c.2244+282G>T (n.2244+282G>T)
c.2802G>T (p.Leu934Phe)
c.2469G>T (p.Leu823Phe)
c.2550G>T (p.Leu850Phe)
c.2568G>T (p.Leu856Phe)
c.1800+282G>T (n.1800+282G>T)
c.1512G>T (p.Leu504Phe)
c.763G>T
n.3600G>T
n.2147G>T
c.2658G>T (p.Leu886Phe)
n.212-3247G>T
c.2706G>T (p.Leu902Phe)
c.2766G>T (p.Leu922Phe)
c.2316G>T (p.Leu772Phe)
c.618G>T (p.Leu206Phe)
c.2730+282G>T (n.2730+282G>T)
c.2388G>T (p.Leu796Phe)
c.1470G>T (p.Leu490Phe)
n.3021G>T
13g.51949725C>GCA388033599ATP7Bc.*635G>C (n.*635G>C)
c.*1546G>C (n.*1546G>C)
c.2244+282G>C (n.2244+282G>C)
c.2802G>C (p.Leu934Phe)
c.2469G>C (p.Leu823Phe)
c.2550G>C (p.Leu850Phe)
c.2568G>C (p.Leu856Phe)
c.1800+282G>C (n.1800+282G>C)
c.1512G>C (p.Leu504Phe)
c.763G>C
n.3600G>C
n.2147G>C
c.2658G>C (p.Leu886Phe)
n.212-3247G>C
c.2706G>C (p.Leu902Phe)
c.2766G>C (p.Leu922Phe)
c.2316G>C (p.Leu772Phe)
c.618G>C (p.Leu206Phe)
c.2730+282G>C (n.2730+282G>C)
c.2388G>C (p.Leu796Phe)
c.1470G>C (p.Leu490Phe)
n.3021G>C
13g.51949725C>TCA484024498ATP7Bc.*635G>A (n.*635G>A)
c.*1546G>A (n.*1546G>A)
c.2244+282G>A (n.2244+282G>A)
c.2802G>A (p.Leu934=)
c.2469G>A (p.Leu823=)
c.2550G>A (p.Leu850=)
c.2568G>A (p.Leu856=)
c.1800+282G>A (n.1800+282G>A)
c.1512G>A (p.Leu504=)
c.763G>A
n.3600G>A
n.2147G>A
c.2658G>A (p.Leu886=)
n.212-3247G>A
c.2706G>A (p.Leu902=)
c.2766G>A (p.Leu922=)
c.2316G>A (p.Leu772=)
c.618G>A (p.Leu206=)
c.2730+282G>A (n.2730+282G>A)
c.2388G>A (p.Leu796=)
c.1470G>A (p.Leu490=)
n.3021G>A
13g.51949726A>CCA388033601ATP7Bc.*634T>G (n.*634T>G)
c.*1545T>G (n.*1545T>G)
c.2244+281T>G (n.2244+281T>G)
c.2801T>G (p.Leu934Trp)
c.2468T>G (p.Leu823Trp)
c.2549T>G (p.Leu850Trp)
c.2567T>G (p.Leu856Trp)
c.1800+281T>G (n.1800+281T>G)
c.1511T>G (p.Leu504Trp)
c.762T>G
n.3599T>G
n.2146T>G
c.2657T>G (p.Leu886Trp)
n.212-3248T>G
c.2705T>G (p.Leu902Trp)
c.2765T>G (p.Leu922Trp)
c.2315T>G (p.Leu772Trp)
c.617T>G (p.Leu206Trp)
c.2730+281T>G (n.2730+281T>G)
c.2387T>G (p.Leu796Trp)
c.1469T>G (p.Leu490Trp)
n.3020T>G
 gnomAD v4
13g.51949726A>GCA388033604ATP7Bc.*634T>C (n.*634T>C)
c.*1545T>C (n.*1545T>C)
c.2244+281T>C (n.2244+281T>C)
c.2801T>C (p.Leu934Ser)
c.2468T>C (p.Leu823Ser)
c.2549T>C (p.Leu850Ser)
c.2567T>C (p.Leu856Ser)
c.1800+281T>C (n.1800+281T>C)
c.1511T>C (p.Leu504Ser)
c.762T>C
n.3599T>C
n.2146T>C
c.2657T>C (p.Leu886Ser)
n.212-3248T>C
c.2705T>C (p.Leu902Ser)
c.2765T>C (p.Leu922Ser)
c.2315T>C (p.Leu772Ser)
c.617T>C (p.Leu206Ser)
c.2730+281T>C (n.2730+281T>C)
c.2387T>C (p.Leu796Ser)
c.1469T>C (p.Leu490Ser)
n.3020T>C
13g.51949726A>TCA388033606ATP7Bc.*634T>A (n.*634T>A)
c.*1545T>A (n.*1545T>A)
c.2244+281T>A (n.2244+281T>A)
c.2801T>A (p.Leu934Ter)
c.2468T>A (p.Leu823Ter)
c.2549T>A (p.Leu850Ter)
c.2567T>A (p.Leu856Ter)
c.1800+281T>A (n.1800+281T>A)
c.1511T>A (p.Leu504Ter)
c.762T>A
n.3599T>A
n.2146T>A
c.2657T>A (p.Leu886Ter)
n.212-3248T>A
c.2705T>A (p.Leu902Ter)
c.2765T>A (p.Leu922Ter)
c.2315T>A (p.Leu772Ter)
c.617T>A (p.Leu206Ter)
c.2730+281T>A (n.2730+281T>A)
c.2387T>A (p.Leu796Ter)
c.1469T>A (p.Leu490Ter)
n.3020T>A
13g.51949727A>CCA388033609ATP7Bc.*633T>G (n.*633T>G)
c.*1544T>G (n.*1544T>G)
c.2244+280T>G (n.2244+280T>G)
c.2800T>G (p.Leu934Val)
c.2467T>G (p.Leu823Val)
c.2548T>G (p.Leu850Val)
c.2566T>G (p.Leu856Val)
c.1800+280T>G (n.1800+280T>G)
c.1510T>G (p.Leu504Val)
c.761T>G
n.3598T>G
n.2145T>G
c.2656T>G (p.Leu886Val)
n.212-3249T>G
c.2704T>G (p.Leu902Val)
c.2764T>G (p.Leu922Val)
c.2314T>G (p.Leu772Val)
c.616T>G (p.Leu206Val)
c.2730+280T>G (n.2730+280T>G)
c.2386T>G (p.Leu796Val)
c.1468T>G (p.Leu490Val)
n.3019T>G
13g.51949727A>GCA484024499ATP7Bc.*633T>C (n.*633T>C)
c.*1544T>C (n.*1544T>C)
c.2244+280T>C (n.2244+280T>C)
c.2800T>C (p.Leu934=)
c.2467T>C (p.Leu823=)
c.2548T>C (p.Leu850=)
c.2566T>C (p.Leu856=)
c.1800+280T>C (n.1800+280T>C)
c.1510T>C (p.Leu504=)
c.761T>C
n.3598T>C
n.2145T>C
c.2656T>C (p.Leu886=)
n.212-3249T>C
c.2704T>C (p.Leu902=)
c.2764T>C (p.Leu922=)
c.2314T>C (p.Leu772=)
c.616T>C (p.Leu206=)
c.2730+280T>C (n.2730+280T>C)
c.2386T>C (p.Leu796=)
c.1468T>C (p.Leu490=)
n.3019T>C
13g.51949727A>TCA388033611ATP7Bc.*633T>A (n.*633T>A)
c.*1544T>A (n.*1544T>A)
c.2244+280T>A (n.2244+280T>A)
c.2800T>A (p.Leu934Met)
c.2467T>A (p.Leu823Met)
c.2548T>A (p.Leu850Met)
c.2566T>A (p.Leu856Met)
c.1800+280T>A (n.1800+280T>A)
c.1510T>A (p.Leu504Met)
c.761T>A
n.3598T>A
n.2145T>A
c.2656T>A (p.Leu886Met)
n.212-3249T>A
c.2704T>A (p.Leu902Met)
c.2764T>A (p.Leu922Met)
c.2314T>A (p.Leu772Met)
c.616T>A (p.Leu206Met)
c.2730+280T>A (n.2730+280T>A)
c.2386T>A (p.Leu796Met)
c.1468T>A (p.Leu490Met)
n.3019T>A
13g.51949728A>CCA484024500ATP7Bc.*632T>G (n.*632T>G)
c.*1543T>G (n.*1543T>G)
c.2244+279T>G (n.2244+279T>G)
c.2799T>G (p.Thr933=)
c.2466T>G (p.Thr822=)
c.2547T>G (p.Thr849=)
c.2565T>G (p.Thr855=)
c.1800+279T>G (n.1800+279T>G)
c.1509T>G (p.Thr503=)
c.760T>G
n.3597T>G
n.2144T>G
c.2655T>G (p.Thr885=)
n.212-3250T>G
c.2703T>G (p.Thr901=)
c.2763T>G (p.Thr921=)
c.2313T>G (p.Thr771=)
c.615T>G (p.Thr205=)
c.2730+279T>G (n.2730+279T>G)
c.2385T>G (p.Thr795=)
c.1467T>G (p.Thr489=)
n.3018T>G
13g.51949728A>GCA484024501ATP7Bc.*632T>C (n.*632T>C)
c.*1543T>C (n.*1543T>C)
c.2244+279T>C (n.2244+279T>C)
c.2799T>C (p.Thr933=)
c.2466T>C (p.Thr822=)
c.2547T>C (p.Thr849=)
c.2565T>C (p.Thr855=)
c.1800+279T>C (n.1800+279T>C)
c.1509T>C (p.Thr503=)
c.760T>C
n.3597T>C
n.2144T>C
c.2655T>C (p.Thr885=)
n.212-3250T>C
c.2703T>C (p.Thr901=)
c.2763T>C (p.Thr921=)
c.2313T>C (p.Thr771=)
c.615T>C (p.Thr205=)
c.2730+279T>C (n.2730+279T>C)
c.2385T>C (p.Thr795=)
c.1467T>C (p.Thr489=)
n.3018T>C
13g.51949728A>TCA484024502ATP7Bc.*632T>A (n.*632T>A)
c.*1543T>A (n.*1543T>A)
c.2244+279T>A (n.2244+279T>A)
c.2799T>A (p.Thr933=)
c.2466T>A (p.Thr822=)
c.2547T>A (p.Thr849=)
c.2565T>A (p.Thr855=)
c.1800+279T>A (n.1800+279T>A)
c.1509T>A (p.Thr503=)
c.760T>A
n.3597T>A
n.2144T>A
c.2655T>A (p.Thr885=)
n.212-3250T>A
c.2703T>A (p.Thr901=)
c.2763T>A (p.Thr921=)
c.2313T>A (p.Thr771=)
c.615T>A (p.Thr205=)
c.2730+279T>A (n.2730+279T>A)
c.2385T>A (p.Thr795=)
c.1467T>A (p.Thr489=)
n.3018T>A
13g.51949729G>ACA388033615ATP7Bc.*631C>T (n.*631C>T)
c.*1542C>T (n.*1542C>T)
c.2244+278C>T (n.2244+278C>T)
c.2798C>T (p.Thr933Ile)
c.2465C>T (p.Thr822Ile)
c.2546C>T (p.Thr849Ile)
c.2564C>T (p.Thr855Ile)
c.1800+278C>T (n.1800+278C>T)
c.1508C>T (p.Thr503Ile)
c.759C>T
n.3596C>T
n.2143C>T
c.2654C>T (p.Thr885Ile)
n.212-3251C>T
c.2702C>T (p.Thr901Ile)
c.2762C>T (p.Thr921Ile)
c.2312C>T (p.Thr771Ile)
c.614C>T (p.Thr205Ile)
c.2730+278C>T (n.2730+278C>T)
c.2384C>T (p.Thr795Ile)
c.1466C>T (p.Thr489Ile)
n.3017C>T
13g.51949729G>CCA388033618ATP7Bc.*631C>G (n.*631C>G)
c.*1542C>G (n.*1542C>G)
c.2244+278C>G (n.2244+278C>G)
c.2798C>G (p.Thr933Ser)
c.2465C>G (p.Thr822Ser)
c.2546C>G (p.Thr849Ser)
c.2564C>G (p.Thr855Ser)
c.1800+278C>G (n.1800+278C>G)
c.1508C>G (p.Thr503Ser)
c.759C>G
n.3596C>G
n.2143C>G
c.2654C>G (p.Thr885Ser)
n.212-3251C>G
c.2702C>G (p.Thr901Ser)
c.2762C>G (p.Thr921Ser)
c.2312C>G (p.Thr771Ser)
c.614C>G (p.Thr205Ser)
c.2730+278C>G (n.2730+278C>G)
c.2384C>G (p.Thr795Ser)
c.1466C>G (p.Thr489Ser)
n.3017C>G
13g.51949729G>TCA388033620ATP7Bc.*631C>A (n.*631C>A)
c.*1542C>A (n.*1542C>A)
c.2244+278C>A (n.2244+278C>A)
c.2798C>A (p.Thr933Asn)
c.2465C>A (p.Thr822Asn)
c.2546C>A (p.Thr849Asn)
c.2564C>A (p.Thr855Asn)
c.1800+278C>A (n.1800+278C>A)
c.1508C>A (p.Thr503Asn)
c.759C>A
n.3596C>A
n.2143C>A
c.2654C>A (p.Thr885Asn)
n.212-3251C>A
c.2702C>A (p.Thr901Asn)
c.2762C>A (p.Thr921Asn)
c.2312C>A (p.Thr771Asn)
c.614C>A (p.Thr205Asn)
c.2730+278C>A (n.2730+278C>A)
c.2384C>A (p.Thr795Asn)
c.1466C>A (p.Thr489Asn)
n.3017C>A
13g.51949729_51949730delinsGTCA2091541411ATP7Bc.*630_*631delinsAC (n.*630_*631delinsAC)
c.*1541_*1542delinsAC (n.*1541_*1542delinsAC)
c.2244+277_2244+278delinsAC (n.2244+277_2244+278delinsAC)
c.2797_2798delinsAC (p.Thr933=)
c.2464_2465delinsAC (p.Thr822=)
c.2545_2546delinsAC (p.Thr849=)
c.2563_2564delinsAC (p.Thr855=)
c.1800+277_1800+278delinsAC (n.1800+277_1800+278delinsAC)
c.1507_1508delinsAC (p.Thr503=)
c.758_759delinsAC
n.3595_3596delinsAC
n.2142_2143delinsAC
c.2653_2654delinsAC (p.Thr885=)
n.212-3252_212-3251delinsAC
c.2701_2702delinsAC (p.Thr901=)
c.2761_2762delinsAC (p.Thr921=)
c.2311_2312delinsAC (p.Thr771=)
c.613_614delinsAC (p.Thr205=)
c.2730+277_2730+278delinsAC (n.2730+277_2730+278delinsAC)
c.2383_2384delinsAC (p.Thr795=)
c.1465_1466delinsAC (p.Thr489=)
n.3016_3017delinsAC
13g.51949730T>ACA388033629ATP7Bc.*630A>T (n.*630A>T)
c.*1541A>T (n.*1541A>T)
c.2244+277A>T (n.2244+277A>T)
c.2797A>T (p.Thr933Ser)
c.2464A>T (p.Thr822Ser)
c.2545A>T (p.Thr849Ser)
c.2563A>T (p.Thr855Ser)
c.1800+277A>T (n.1800+277A>T)
c.1507A>T (p.Thr503Ser)
c.758A>T
n.3595A>T
n.2142A>T
c.2653A>T (p.Thr885Ser)
n.212-3252A>T
c.2701A>T (p.Thr901Ser)
c.2761A>T (p.Thr921Ser)
c.2311A>T (p.Thr771Ser)
c.613A>T (p.Thr205Ser)
c.2730+277A>T (n.2730+277A>T)
c.2383A>T (p.Thr795Ser)
c.1465A>T (p.Thr489Ser)
n.3016A>T
13g.51949730T>CCA388033624ATP7Bc.*630A>G (n.*630A>G)
c.*1541A>G (n.*1541A>G)
c.2244+277A>G (n.2244+277A>G)
c.2797A>G (p.Thr933Ala)
c.2464A>G (p.Thr822Ala)
c.2545A>G (p.Thr849Ala)
c.2563A>G (p.Thr855Ala)
c.1800+277A>G (n.1800+277A>G)
c.1507A>G (p.Thr503Ala)
c.758A>G
n.3595A>G
n.2142A>G
c.2653A>G (p.Thr885Ala)
n.212-3252A>G
c.2701A>G (p.Thr901Ala)
c.2761A>G (p.Thr921Ala)
c.2311A>G (p.Thr771Ala)
c.613A>G (p.Thr205Ala)
c.2730+277A>G (n.2730+277A>G)
c.2383A>G (p.Thr795Ala)
c.1465A>G (p.Thr489Ala)
n.3016A>G
13g.51949730T>GCA388033626ATP7Bc.*630A>C (n.*630A>C)
c.*1541A>C (n.*1541A>C)
c.2244+277A>C (n.2244+277A>C)
c.2797A>C (p.Thr933Pro)
c.2464A>C (p.Thr822Pro)
c.2545A>C (p.Thr849Pro)
c.2563A>C (p.Thr855Pro)
c.1800+277A>C (n.1800+277A>C)
c.1507A>C (p.Thr503Pro)
c.758A>C
n.3595A>C
n.2142A>C
c.2653A>C (p.Thr885Pro)
n.212-3252A>C
c.2701A>C (p.Thr901Pro)
c.2761A>C (p.Thr921Pro)
c.2311A>C (p.Thr771Pro)
c.613A>C (p.Thr205Pro)
c.2730+277A>C (n.2730+277A>C)
c.2383A>C (p.Thr795Pro)
c.1465A>C (p.Thr489Pro)
n.3016A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51949730T=CA2091541416ATP7Bc.*630A= (n.*630A=)
c.*1541A= (n.*1541A=)
c.2244+277A= (n.2244+277A=)
c.2797A= (p.Thr933=)
c.2464A= (p.Thr822=)
c.2545A= (p.Thr849=)
c.2563A= (p.Thr855=)
c.1800+277A= (n.1800+277A=)
c.1507A= (p.Thr503=)
c.758A=
n.3595A=
n.2142A=
c.2653A= (p.Thr885=)
n.212-3252A=
c.2701A= (p.Thr901=)
c.2761A= (p.Thr921=)
c.2311A= (p.Thr771=)
c.613A= (p.Thr205=)
c.2730+277A= (n.2730+277A=)
c.2383A= (p.Thr795=)
c.1465A= (p.Thr489=)
n.3016A=
13g.51949731delCA610425774ATP7Bc.*630del (n.*630del)
c.*1541del (n.*1541del)
c.2244+277del (n.2244+277del)
c.2797del (p.Thr933LeufsTer2)
c.2464del (p.Thr822LeufsTer2)
c.2545del (p.Thr849LeufsTer2)
c.2563del (p.Thr855LeufsTer2)
c.1800+277del (n.1800+277del)
c.1507del (p.Thr503LeufsTer2)
c.758del
n.3595del
n.2142del
c.2653del (p.Thr885LeufsTer2)
n.212-3252del
c.2701del (p.Thr901LeufsTer2)
c.2761del (p.Thr921LeufsTer2)
c.2311del (p.Thr771LeufsTer2)
c.613del (p.Thr205LeufsTer2)
c.2730+277del (n.2730+277del)
c.2383del (p.Thr795LeufsTer2)
c.1465del (p.Thr489LeufsTer2)
n.3016del
 dbSNP gnomAD v2 gnomAD v4
13g.51949731T>ACA484024503ATP7Bc.*629A>T (n.*629A>T)
c.*1540A>T (n.*1540A>T)
c.2244+276A>T (n.2244+276A>T)
c.2796A>T (p.Ser932=)
c.2463A>T (p.Ser821=)
c.2544A>T (p.Ser848=)
c.2562A>T (p.Ser854=)
c.1800+276A>T (n.1800+276A>T)
c.1506A>T (p.Ser502=)
c.757A>T
n.3594A>T
n.2141A>T
c.2652A>T (p.Ser884=)
n.212-3253A>T
c.2700A>T (p.Ser900=)
c.2760A>T (p.Ser920=)
c.2310A>T (p.Ser770=)
c.612A>T (p.Ser204=)
c.2730+276A>T (n.2730+276A>T)
c.2382A>T (p.Ser794=)
c.1464A>T (p.Ser488=)
n.3015A>T
13g.51949731T>CCA484024504ATP7Bc.*629A>G (n.*629A>G)
c.*1540A>G (n.*1540A>G)
c.2244+276A>G (n.2244+276A>G)
c.2796A>G (p.Ser932=)
c.2463A>G (p.Ser821=)
c.2544A>G (p.Ser848=)
c.2562A>G (p.Ser854=)
c.1800+276A>G (n.1800+276A>G)
c.1506A>G (p.Ser502=)
c.757A>G
n.3594A>G
n.2141A>G
c.2652A>G (p.Ser884=)
n.212-3253A>G
c.2700A>G (p.Ser900=)
c.2760A>G (p.Ser920=)
c.2310A>G (p.Ser770=)
c.612A>G (p.Ser204=)
c.2730+276A>G (n.2730+276A>G)
c.2382A>G (p.Ser794=)
c.1464A>G (p.Ser488=)
n.3015A>G
 ClinVar dbSNP
13g.51949731T>GCA484024505ATP7Bc.*629A>C (n.*629A>C)
c.*1540A>C (n.*1540A>C)
c.2244+276A>C (n.2244+276A>C)
c.2796A>C (p.Ser932=)
c.2463A>C (p.Ser821=)
c.2544A>C (p.Ser848=)
c.2562A>C (p.Ser854=)
c.1800+276A>C (n.1800+276A>C)
c.1506A>C (p.Ser502=)
c.757A>C
n.3594A>C
n.2141A>C
c.2652A>C (p.Ser884=)
n.212-3253A>C
c.2700A>C (p.Ser900=)
c.2760A>C (p.Ser920=)
c.2310A>C (p.Ser770=)
c.612A>C (p.Ser204=)
c.2730+276A>C (n.2730+276A>C)
c.2382A>C (p.Ser794=)
c.1464A>C (p.Ser488=)
n.3015A>C
13g.51949731T=CA2091541420ATP7Bc.*629A= (n.*629A=)
c.*1540A= (n.*1540A=)
c.2244+276A= (n.2244+276A=)
c.2796A= (p.Ser932=)
c.2463A= (p.Ser821=)
c.2544A= (p.Ser848=)
c.2562A= (p.Ser854=)
c.1800+276A= (n.1800+276A=)
c.1506A= (p.Ser502=)
c.757A=
n.3594A=
n.2141A=
c.2652A= (p.Ser884=)
n.212-3253A=
c.2700A= (p.Ser900=)
c.2760A= (p.Ser920=)
c.2310A= (p.Ser770=)
c.612A= (p.Ser204=)
c.2730+276A= (n.2730+276A=)
c.2382A= (p.Ser794=)
c.1464A= (p.Ser488=)
n.3015A=
13g.51949732G>ACA388033634ATP7Bc.*628C>T (n.*628C>T)
c.*1539C>T (n.*1539C>T)
c.2244+275C>T (n.2244+275C>T)
c.2795C>T (p.Ser932Leu)
c.2462C>T (p.Ser821Leu)
c.2543C>T (p.Ser848Leu)
c.2561C>T (p.Ser854Leu)
c.1800+275C>T (n.1800+275C>T)
c.1505C>T (p.Ser502Leu)
c.756C>T
n.3593C>T
n.2140C>T
c.2651C>T (p.Ser884Leu)
n.212-3254C>T
c.2699C>T (p.Ser900Leu)
c.2759C>T (p.Ser920Leu)
c.2309C>T (p.Ser770Leu)
c.611C>T (p.Ser204Leu)
c.2730+275C>T (n.2730+275C>T)
c.2381C>T (p.Ser794Leu)
c.1463C>T (p.Ser488Leu)
n.3014C>T
 gnomAD v4
13g.51949732G>CCA388033635ATP7Bc.*628C>G (n.*628C>G)
c.*1539C>G (n.*1539C>G)
c.2244+275C>G (n.2244+275C>G)
c.2795C>G (p.Ser932Ter)
c.2462C>G (p.Ser821Ter)
c.2543C>G (p.Ser848Ter)
c.2561C>G (p.Ser854Ter)
c.1800+275C>G (n.1800+275C>G)
c.1505C>G (p.Ser502Ter)
c.756C>G
n.3593C>G
n.2140C>G
c.2651C>G (p.Ser884Ter)
n.212-3254C>G
c.2699C>G (p.Ser900Ter)
c.2759C>G (p.Ser920Ter)
c.2309C>G (p.Ser770Ter)
c.611C>G (p.Ser204Ter)
c.2730+275C>G (n.2730+275C>G)
c.2381C>G (p.Ser794Ter)
c.1463C>G (p.Ser488Ter)
n.3014C>G
 dbSNP gnomAD v4
13g.51949732G=CA2091541426ATP7Bc.*628C= (n.*628C=)
c.*1539C= (n.*1539C=)
c.2244+275C= (n.2244+275C=)
c.2795C= (p.Ser932=)
c.2462C= (p.Ser821=)
c.2543C= (p.Ser848=)
c.2561C= (p.Ser854=)
c.1800+275C= (n.1800+275C=)
c.1505C= (p.Ser502=)
c.756C=
n.3593C=
n.2140C=
c.2651C= (p.Ser884=)
n.212-3254C=
c.2699C= (p.Ser900=)
c.2759C= (p.Ser920=)
c.2309C= (p.Ser770=)
c.611C= (p.Ser204=)
c.2730+275C= (n.2730+275C=)
c.2381C= (p.Ser794=)
c.1463C= (p.Ser488=)
n.3014C=
13g.51949732G>TCA388033637ATP7Bc.*628C>A (n.*628C>A)
c.*1539C>A (n.*1539C>A)
c.2244+275C>A (n.2244+275C>A)
c.2795C>A (p.Ser932Ter)
c.2462C>A (p.Ser821Ter)
c.2543C>A (p.Ser848Ter)
c.2561C>A (p.Ser854Ter)
c.1800+275C>A (n.1800+275C>A)
c.1505C>A (p.Ser502Ter)
c.756C>A
n.3593C>A
n.2140C>A
c.2651C>A (p.Ser884Ter)
n.212-3254C>A
c.2699C>A (p.Ser900Ter)
c.2759C>A (p.Ser920Ter)
c.2309C>A (p.Ser770Ter)
c.611C>A (p.Ser204Ter)
c.2730+275C>A (n.2730+275C>A)
c.2381C>A (p.Ser794Ter)
c.1463C>A (p.Ser488Ter)
n.3014C>A
 ClinVar dbSNP
13g.51949733A>CCA388033640ATP7Bc.*627T>G (n.*627T>G)
c.*1538T>G (n.*1538T>G)
c.2244+274T>G (n.2244+274T>G)
c.2794T>G (p.Ser932Ala)
c.2461T>G (p.Ser821Ala)
c.2542T>G (p.Ser848Ala)
c.2560T>G (p.Ser854Ala)
c.1800+274T>G (n.1800+274T>G)
c.1504T>G (p.Ser502Ala)
c.755T>G
n.3592T>G
n.2139T>G
c.2650T>G (p.Ser884Ala)
n.212-3255T>G
c.2698T>G (p.Ser900Ala)
c.2758T>G (p.Ser920Ala)
c.2308T>G (p.Ser770Ala)
c.610T>G (p.Ser204Ala)
c.2730+274T>G (n.2730+274T>G)
c.2380T>G (p.Ser794Ala)
c.1462T>G (p.Ser488Ala)
n.3013T>G
13g.51949733A>GCA388033643ATP7Bc.*627T>C (n.*627T>C)
c.*1538T>C (n.*1538T>C)
c.2244+274T>C (n.2244+274T>C)
c.2794T>C (p.Ser932Pro)
c.2461T>C (p.Ser821Pro)
c.2542T>C (p.Ser848Pro)
c.2560T>C (p.Ser854Pro)
c.1800+274T>C (n.1800+274T>C)
c.1504T>C (p.Ser502Pro)
c.755T>C
n.3592T>C
n.2139T>C
c.2650T>C (p.Ser884Pro)
n.212-3255T>C
c.2698T>C (p.Ser900Pro)
c.2758T>C (p.Ser920Pro)
c.2308T>C (p.Ser770Pro)
c.610T>C (p.Ser204Pro)
c.2730+274T>C (n.2730+274T>C)
c.2380T>C (p.Ser794Pro)
c.1462T>C (p.Ser488Pro)
n.3013T>C
13g.51949733A>TCA388033645ATP7Bc.*627T>A (n.*627T>A)
c.*1538T>A (n.*1538T>A)
c.2244+274T>A (n.2244+274T>A)
c.2794T>A (p.Ser932Thr)
c.2461T>A (p.Ser821Thr)
c.2542T>A (p.Ser848Thr)
c.2560T>A (p.Ser854Thr)
c.1800+274T>A (n.1800+274T>A)
c.1504T>A (p.Ser502Thr)
c.755T>A
n.3592T>A
n.2139T>A
c.2650T>A (p.Ser884Thr)
n.212-3255T>A
c.2698T>A (p.Ser900Thr)
c.2758T>A (p.Ser920Thr)
c.2308T>A (p.Ser770Thr)
c.610T>A (p.Ser204Thr)
c.2730+274T>A (n.2730+274T>A)
c.2380T>A (p.Ser794Thr)
c.1462T>A (p.Ser488Thr)
n.3013T>A
13g.51949734_51949735dupCA2695218781ATP7Bc.*626_*627dup (n.*626_*627dup)
c.*1537_*1538dup (n.*1537_*1538dup)
c.2244+273_2244+274dup (n.2244+273_2244+274dup)
c.2793_2794dup (p.Ser932CysfsTer4)
c.2460_2461dup (p.Ser821CysfsTer4)
c.2541_2542dup (p.Ser848CysfsTer4)
c.2559_2560dup (p.Ser854CysfsTer4)
c.1800+273_1800+274dup (n.1800+273_1800+274dup)
c.1503_1504dup (p.Ser502CysfsTer4)
c.754_755dup
n.3591_3592dup
n.2138_2139dup
c.2649_2650dup (p.Ser884CysfsTer4)
n.212-3256_212-3255dup
c.2697_2698dup (p.Ser900CysfsTer4)
c.2757_2758dup (p.Ser920CysfsTer4)
c.2307_2308dup (p.Ser770CysfsTer4)
c.609_610dup (p.Ser204CysfsTer4)
c.2730+273_2730+274dup (n.2730+273_2730+274dup)
c.2379_2380dup (p.Ser794CysfsTer4)
c.1461_1462dup (p.Ser488CysfsTer4)
n.3012_3013dup
13g.51949734C>ACA388033648ATP7Bc.*626G>T (n.*626G>T)
c.*1537G>T (n.*1537G>T)
c.2244+273G>T (n.2244+273G>T)
c.2793G>T (p.Met931Ile)
c.2460G>T (p.Met820Ile)
c.2541G>T (p.Met847Ile)
c.2559G>T (p.Met853Ile)
c.1800+273G>T (n.1800+273G>T)
c.1503G>T (p.Met501Ile)
c.754G>T
n.3591G>T
n.2138G>T
c.2649G>T (p.Met883Ile)
n.212-3256G>T
c.2697G>T (p.Met899Ile)
c.2757G>T (p.Met919Ile)
c.2307G>T (p.Met769Ile)
c.609G>T (p.Met203Ile)
c.2730+273G>T (n.2730+273G>T)
c.2379G>T (p.Met793Ile)
c.1461G>T (p.Met487Ile)
n.3012G>T
13g.51949734C>GCA388033650ATP7Bc.*626G>C (n.*626G>C)
c.*1537G>C (n.*1537G>C)
c.2244+273G>C (n.2244+273G>C)
c.2793G>C (p.Met931Ile)
c.2460G>C (p.Met820Ile)
c.2541G>C (p.Met847Ile)
c.2559G>C (p.Met853Ile)
c.1800+273G>C (n.1800+273G>C)
c.1503G>C (p.Met501Ile)
c.754G>C
n.3591G>C
n.2138G>C
c.2649G>C (p.Met883Ile)
n.212-3256G>C
c.2697G>C (p.Met899Ile)
c.2757G>C (p.Met919Ile)
c.2307G>C (p.Met769Ile)
c.609G>C (p.Met203Ile)
c.2730+273G>C (n.2730+273G>C)
c.2379G>C (p.Met793Ile)
c.1461G>C (p.Met487Ile)
n.3012G>C
13g.51949734C>TCA388033652ATP7Bc.*626G>A (n.*626G>A)
c.*1537G>A (n.*1537G>A)
c.2244+273G>A (n.2244+273G>A)
c.2793G>A (p.Met931Ile)
c.2460G>A (p.Met820Ile)
c.2541G>A (p.Met847Ile)
c.2559G>A (p.Met853Ile)
c.1800+273G>A (n.1800+273G>A)
c.1503G>A (p.Met501Ile)
c.754G>A
n.3591G>A
n.2138G>A
c.2649G>A (p.Met883Ile)
n.212-3256G>A
c.2697G>A (p.Met899Ile)
c.2757G>A (p.Met919Ile)
c.2307G>A (p.Met769Ile)
c.609G>A (p.Met203Ile)
c.2730+273G>A (n.2730+273G>A)
c.2379G>A (p.Met793Ile)
c.1461G>A (p.Met487Ile)
n.3012G>A
13g.51949734_51949737delinsCATGCA2091541429ATP7Bc.*623_*626delinsCATG (n.*623_*626delinsCATG)
c.*1534_*1537delinsCATG (n.*1534_*1537delinsCATG)
c.2244+270_2244+273delinsCATG (n.2244+270_2244+273delinsCATG)
c.2790_2793delinsCATG (p.Ile930=)
c.2457_2460delinsCATG (p.Ile819=)
c.2538_2541delinsCATG (p.Ile846=)
c.2556_2559delinsCATG (p.Ile852=)
c.1800+270_1800+273delinsCATG (n.1800+270_1800+273delinsCATG)
c.1500_1503delinsCATG (p.Ile500=)
c.751_754delinsCATG
n.3588_3591delinsCATG
n.2135_2138delinsCATG
c.2646_2649delinsCATG (p.Ile882=)
n.212-3259_212-3256delinsCATG
c.2694_2697delinsCATG (p.Ile898=)
c.2754_2757delinsCATG (p.Ile918=)
c.2304_2307delinsCATG (p.Ile768=)
c.606_609delinsCATG (p.Ile202=)
c.2730+270_2730+273delinsCATG (n.2730+270_2730+273delinsCATG)
c.2376_2379delinsCATG (p.Ile792=)
c.1458_1461delinsCATG (p.Ile486=)
n.3009_3012delinsCATG
13g.51949735A=CA2091541438ATP7Bc.*625T= (n.*625T=)
c.*1536T= (n.*1536T=)
c.2244+272T= (n.2244+272T=)
c.2792T= (p.Met931=)
c.2459T= (p.Met820=)
c.2540T= (p.Met847=)
c.2558T= (p.Met853=)
c.1800+272T= (n.1800+272T=)
c.1502T= (p.Met501=)
c.753T=
n.3590T=
n.2137T=
c.2648T= (p.Met883=)
n.212-3257T=
c.2696T= (p.Met899=)
c.2756T= (p.Met919=)
c.2306T= (p.Met769=)
c.608T= (p.Met203=)
c.2730+272T= (n.2730+272T=)
c.2378T= (p.Met793=)
c.1460T= (p.Met487=)
n.3011T=
13g.51949735A>CCA388033655ATP7Bc.*625T>G (n.*625T>G)
c.*1536T>G (n.*1536T>G)
c.2244+272T>G (n.2244+272T>G)
c.2792T>G (p.Met931Arg)
c.2459T>G (p.Met820Arg)
c.2540T>G (p.Met847Arg)
c.2558T>G (p.Met853Arg)
c.1800+272T>G (n.1800+272T>G)
c.1502T>G (p.Met501Arg)
c.753T>G
n.3590T>G
n.2137T>G
c.2648T>G (p.Met883Arg)
n.212-3257T>G
c.2696T>G (p.Met899Arg)
c.2756T>G (p.Met919Arg)
c.2306T>G (p.Met769Arg)
c.608T>G (p.Met203Arg)
c.2730+272T>G (n.2730+272T>G)
c.2378T>G (p.Met793Arg)
c.1460T>G (p.Met487Arg)
n.3011T>G
13g.51949735A>GCA6988908ATP7Bc.*625T>C (n.*625T>C)
c.*1536T>C (n.*1536T>C)
c.2244+272T>C (n.2244+272T>C)
c.2792T>C (p.Met931Thr)
c.2459T>C (p.Met820Thr)
c.2540T>C (p.Met847Thr)
c.2558T>C (p.Met853Thr)
c.1800+272T>C (n.1800+272T>C)
c.1502T>C (p.Met501Thr)
c.753T>C
n.3590T>C
n.2137T>C
c.2648T>C (p.Met883Thr)
n.212-3257T>C
c.2696T>C (p.Met899Thr)
c.2756T>C (p.Met919Thr)
c.2306T>C (p.Met769Thr)
c.608T>C (p.Met203Thr)
c.2730+272T>C (n.2730+272T>C)
c.2378T>C (p.Met793Thr)
c.1460T>C (p.Met487Thr)
n.3011T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949735A>TCA388033659ATP7Bc.*625T>A (n.*625T>A)
c.*1536T>A (n.*1536T>A)
c.2244+272T>A (n.2244+272T>A)
c.2792T>A (p.Met931Lys)
c.2459T>A (p.Met820Lys)
c.2540T>A (p.Met847Lys)
c.2558T>A (p.Met853Lys)
c.1800+272T>A (n.1800+272T>A)
c.1502T>A (p.Met501Lys)
c.753T>A
n.3590T>A
n.2137T>A
c.2648T>A (p.Met883Lys)
n.212-3257T>A
c.2696T>A (p.Met899Lys)
c.2756T>A (p.Met919Lys)
c.2306T>A (p.Met769Lys)
c.608T>A (p.Met203Lys)
c.2730+272T>A (n.2730+272T>A)
c.2378T>A (p.Met793Lys)
c.1460T>A (p.Met487Lys)
n.3011T>A
13g.51949743_51949745delCA610425775ATP7Bc.*623_*625del (n.*623_*625del)
c.*1534_*1536del (n.*1534_*1536del)
c.2244+270_2244+272del (n.2244+270_2244+272del)
c.2790_2792del (p.Ile930del)
c.2457_2459del (p.Ile819del)
c.2538_2540del (p.Ile846del)
c.2556_2558del (p.Ile852del)
c.1800+270_1800+272del (n.1800+270_1800+272del)
c.1500_1502del (p.Ile500del)
c.751_753del
n.3588_3590del
n.2135_2137del
c.2646_2648del (p.Ile882del)
n.212-3259_212-3257del
c.2694_2696del (p.Ile898del)
c.2754_2756del (p.Ile918del)
c.2304_2306del (p.Ile768del)
c.606_608del (p.Ile202del)
c.2730+270_2730+272del (n.2730+270_2730+272del)
c.2376_2378del (p.Ile792del)
c.1458_1460del (p.Ile486del)
n.3009_3011del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949736T>ACA388033672ATP7Bc.*624A>T (n.*624A>T)
c.*1535A>T (n.*1535A>T)
c.2244+271A>T (n.2244+271A>T)
c.2791A>T (p.Met931Leu)
c.2458A>T (p.Met820Leu)
c.2539A>T (p.Met847Leu)
c.2557A>T (p.Met853Leu)
c.1800+271A>T (n.1800+271A>T)
c.1501A>T (p.Met501Leu)
c.752A>T
n.3589A>T
n.2136A>T
c.2647A>T (p.Met883Leu)
n.212-3258A>T
c.2695A>T (p.Met899Leu)
c.2755A>T (p.Met919Leu)
c.2305A>T (p.Met769Leu)
c.607A>T (p.Met203Leu)
c.2730+271A>T (n.2730+271A>T)
c.2377A>T (p.Met793Leu)
c.1459A>T (p.Met487Leu)
n.3010A>T
 gnomAD v4
13g.51949736T>CCA388033663ATP7Bc.*624A>G (n.*624A>G)
c.*1535A>G (n.*1535A>G)
c.2244+271A>G (n.2244+271A>G)
c.2791A>G (p.Met931Val)
c.2458A>G (p.Met820Val)
c.2539A>G (p.Met847Val)
c.2557A>G (p.Met853Val)
c.1800+271A>G (n.1800+271A>G)
c.1501A>G (p.Met501Val)
c.752A>G
n.3589A>G
n.2136A>G
c.2647A>G (p.Met883Val)
n.212-3258A>G
c.2695A>G (p.Met899Val)
c.2755A>G (p.Met919Val)
c.2305A>G (p.Met769Val)
c.607A>G (p.Met203Val)
c.2730+271A>G (n.2730+271A>G)
c.2377A>G (p.Met793Val)
c.1459A>G (p.Met487Val)
n.3010A>G
 gnomAD v3 gnomAD v4
13g.51949736T>GCA388033669ATP7Bc.*624A>C (n.*624A>C)
c.*1535A>C (n.*1535A>C)
c.2244+271A>C (n.2244+271A>C)
c.2791A>C (p.Met931Leu)
c.2458A>C (p.Met820Leu)
c.2539A>C (p.Met847Leu)
c.2557A>C (p.Met853Leu)
c.1800+271A>C (n.1800+271A>C)
c.1501A>C (p.Met501Leu)
c.752A>C
n.3589A>C
n.2136A>C
c.2647A>C (p.Met883Leu)
n.212-3258A>C
c.2695A>C (p.Met899Leu)
c.2755A>C (p.Met919Leu)
c.2305A>C (p.Met769Leu)
c.607A>C (p.Met203Leu)
c.2730+271A>C (n.2730+271A>C)
c.2377A>C (p.Met793Leu)
c.1459A>C (p.Met487Leu)
n.3010A>C
13g.51949737G>ACA484024506ATP7Bc.*623C>T (n.*623C>T)
c.*1534C>T (n.*1534C>T)
c.2244+270C>T (n.2244+270C>T)
c.2790C>T (p.Ile930=)
c.2457C>T (p.Ile819=)
c.2538C>T (p.Ile846=)
c.2556C>T (p.Ile852=)
c.1800+270C>T (n.1800+270C>T)
c.1500C>T (p.Ile500=)
c.751C>T
n.3588C>T
n.2135C>T
c.2646C>T (p.Ile882=)
n.212-3259C>T
c.2694C>T (p.Ile898=)
c.2754C>T (p.Ile918=)
c.2304C>T (p.Ile768=)
c.606C>T (p.Ile202=)
c.2730+270C>T (n.2730+270C>T)
c.2376C>T (p.Ile792=)
c.1458C>T (p.Ile486=)
n.3009C>T
 gnomAD v4
13g.51949737G>CCA388033675ATP7Bc.*623C>G (n.*623C>G)
c.*1534C>G (n.*1534C>G)
c.2244+270C>G (n.2244+270C>G)
c.2790C>G (p.Ile930Met)
c.2457C>G (p.Ile819Met)
c.2538C>G (p.Ile846Met)
c.2556C>G (p.Ile852Met)
c.1800+270C>G (n.1800+270C>G)
c.1500C>G (p.Ile500Met)
c.751C>G
n.3588C>G
n.2135C>G
c.2646C>G (p.Ile882Met)
n.212-3259C>G
c.2694C>G (p.Ile898Met)
c.2754C>G (p.Ile918Met)
c.2304C>G (p.Ile768Met)
c.606C>G (p.Ile202Met)
c.2730+270C>G (n.2730+270C>G)
c.2376C>G (p.Ile792Met)
c.1458C>G (p.Ile486Met)
n.3009C>G
 gnomAD v4
13g.51949737G=CA2091541445ATP7Bc.*623C= (n.*623C=)
c.*1534C= (n.*1534C=)
c.2244+270C= (n.2244+270C=)
c.2790C= (p.Ile930=)
c.2457C= (p.Ile819=)
c.2538C= (p.Ile846=)
c.2556C= (p.Ile852=)
c.1800+270C= (n.1800+270C=)
c.1500C= (p.Ile500=)
c.751C=
n.3588C=
n.2135C=
c.2646C= (p.Ile882=)
n.212-3259C=
c.2694C= (p.Ile898=)
c.2754C= (p.Ile918=)
c.2304C= (p.Ile768=)
c.606C= (p.Ile202=)
c.2730+270C= (n.2730+270C=)
c.2376C= (p.Ile792=)
c.1458C= (p.Ile486=)
n.3009C=
13g.51949737G>TCA6988909ATP7Bc.*623C>A (n.*623C>A)
c.*1534C>A (n.*1534C>A)
c.2244+270C>A (n.2244+270C>A)
c.2790C>A (p.Ile930=)
c.2457C>A (p.Ile819=)
c.2538C>A (p.Ile846=)
c.2556C>A (p.Ile852=)
c.1800+270C>A (n.1800+270C>A)
c.1500C>A (p.Ile500=)
c.751C>A
n.3588C>A
n.2135C>A
c.2646C>A (p.Ile882=)
n.212-3259C>A
c.2694C>A (p.Ile898=)
c.2754C>A (p.Ile918=)
c.2304C>A (p.Ile768=)
c.606C>A (p.Ile202=)
c.2730+270C>A (n.2730+270C>A)
c.2376C>A (p.Ile792=)
c.1458C>A (p.Ile486=)
n.3009C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51949738A=CA2091541450ATP7Bc.*622T= (n.*622T=)
c.*1533T= (n.*1533T=)
c.2244+269T= (n.2244+269T=)
c.2789T= (p.Ile930=)
c.2456T= (p.Ile819=)
c.2537T= (p.Ile846=)
c.2555T= (p.Ile852=)
c.1800+269T= (n.1800+269T=)
c.1499T= (p.Ile500=)
c.750T=
n.3587T=
n.2134T=
c.2645T= (p.Ile882=)
n.212-3260T=
c.2693T= (p.Ile898=)
c.2753T= (p.Ile918=)
c.2303T= (p.Ile768=)
c.605T= (p.Ile202=)
c.2730+269T= (n.2730+269T=)
c.2375T= (p.Ile792=)
c.1457T= (p.Ile486=)
n.3008T=
13g.51949738A>CCA388033680ATP7Bc.*622T>G (n.*622T>G)
c.*1533T>G (n.*1533T>G)
c.2244+269T>G (n.2244+269T>G)
c.2789T>G (p.Ile930Ser)
c.2456T>G (p.Ile819Ser)
c.2537T>G (p.Ile846Ser)
c.2555T>G (p.Ile852Ser)
c.1800+269T>G (n.1800+269T>G)
c.1499T>G (p.Ile500Ser)
c.750T>G
n.3587T>G
n.2134T>G
c.2645T>G (p.Ile882Ser)
n.212-3260T>G
c.2693T>G (p.Ile898Ser)
c.2753T>G (p.Ile918Ser)
c.2303T>G (p.Ile768Ser)
c.605T>G (p.Ile202Ser)
c.2730+269T>G (n.2730+269T>G)
c.2375T>G (p.Ile792Ser)
c.1457T>G (p.Ile486Ser)
n.3008T>G
13g.51949738A>GCA388033682ATP7Bc.*622T>C (n.*622T>C)
c.*1533T>C (n.*1533T>C)
c.2244+269T>C (n.2244+269T>C)
c.2789T>C (p.Ile930Thr)
c.2456T>C (p.Ile819Thr)
c.2537T>C (p.Ile846Thr)
c.2555T>C (p.Ile852Thr)
c.1800+269T>C (n.1800+269T>C)
c.1499T>C (p.Ile500Thr)
c.750T>C
n.3587T>C
n.2134T>C
c.2645T>C (p.Ile882Thr)
n.212-3260T>C
c.2693T>C (p.Ile898Thr)
c.2753T>C (p.Ile918Thr)
c.2303T>C (p.Ile768Thr)
c.605T>C (p.Ile202Thr)
c.2730+269T>C (n.2730+269T>C)
c.2375T>C (p.Ile792Thr)
c.1457T>C (p.Ile486Thr)
n.3008T>C
 dbSNP gnomAD v2 gnomAD v4
13g.51949738A>TCA388033684ATP7Bc.*622T>A (n.*622T>A)
c.*1533T>A (n.*1533T>A)
c.2244+269T>A (n.2244+269T>A)
c.2789T>A (p.Ile930Asn)
c.2456T>A (p.Ile819Asn)
c.2537T>A (p.Ile846Asn)
c.2555T>A (p.Ile852Asn)
c.1800+269T>A (n.1800+269T>A)
c.1499T>A (p.Ile500Asn)
c.750T>A
n.3587T>A
n.2134T>A
c.2645T>A (p.Ile882Asn)
n.212-3260T>A
c.2693T>A (p.Ile898Asn)
c.2753T>A (p.Ile918Asn)
c.2303T>A (p.Ile768Asn)
c.605T>A (p.Ile202Asn)
c.2730+269T>A (n.2730+269T>A)
c.2375T>A (p.Ile792Asn)
c.1457T>A (p.Ile486Asn)
n.3008T>A
13g.51949739T>ACA388033687ATP7Bc.*621A>T (n.*621A>T)
c.*1532A>T (n.*1532A>T)
c.2244+268A>T (n.2244+268A>T)
c.2788A>T (p.Ile930Phe)
c.2455A>T (p.Ile819Phe)
c.2536A>T (p.Ile846Phe)
c.2554A>T (p.Ile852Phe)
c.1800+268A>T (n.1800+268A>T)
c.1498A>T (p.Ile500Phe)
c.749A>T
n.3586A>T
n.2133A>T
c.2644A>T (p.Ile882Phe)
n.212-3261A>T
c.2692A>T (p.Ile898Phe)
c.2752A>T (p.Ile918Phe)
c.2302A>T (p.Ile768Phe)
c.604A>T (p.Ile202Phe)
c.2730+268A>T (n.2730+268A>T)
c.2374A>T (p.Ile792Phe)
c.1456A>T (p.Ile486Phe)
n.3007A>T
13g.51949739T>CCA388033690ATP7Bc.*621A>G (n.*621A>G)
c.*1532A>G (n.*1532A>G)
c.2244+268A>G (n.2244+268A>G)
c.2788A>G (p.Ile930Val)
c.2455A>G (p.Ile819Val)
c.2536A>G (p.Ile846Val)
c.2554A>G (p.Ile852Val)
c.1800+268A>G (n.1800+268A>G)
c.1498A>G (p.Ile500Val)
c.749A>G
n.3586A>G
n.2133A>G
c.2644A>G (p.Ile882Val)
n.212-3261A>G
c.2692A>G (p.Ile898Val)
c.2752A>G (p.Ile918Val)
c.2302A>G (p.Ile768Val)
c.604A>G (p.Ile202Val)
c.2730+268A>G (n.2730+268A>G)
c.2374A>G (p.Ile792Val)
c.1456A>G (p.Ile486Val)
n.3007A>G
 gnomAD v4
13g.51949739T>GCA388033693ATP7Bc.*621A>C (n.*621A>C)
c.*1532A>C (n.*1532A>C)
c.2244+268A>C (n.2244+268A>C)
c.2788A>C (p.Ile930Leu)
c.2455A>C (p.Ile819Leu)
c.2536A>C (p.Ile846Leu)
c.2554A>C (p.Ile852Leu)
c.1800+268A>C (n.1800+268A>C)
c.1498A>C (p.Ile500Leu)
c.749A>C
n.3586A>C
n.2133A>C
c.2644A>C (p.Ile882Leu)
n.212-3261A>C
c.2692A>C (p.Ile898Leu)
c.2752A>C (p.Ile918Leu)
c.2302A>C (p.Ile768Leu)
c.604A>C (p.Ile202Leu)
c.2730+268A>C (n.2730+268A>C)
c.2374A>C (p.Ile792Leu)
c.1456A>C (p.Ile486Leu)
n.3007A>C
 gnomAD v4
13g.51949740G>ACA250084863ATP7Bc.*620C>T (n.*620C>T)
c.*1531C>T (n.*1531C>T)
c.2244+267C>T (n.2244+267C>T)
c.2787C>T (p.Ile929=)
c.2454C>T (p.Ile818=)
c.2535C>T (p.Ile845=)
c.2553C>T (p.Ile851=)
c.1800+267C>T (n.1800+267C>T)
c.1497C>T (p.Ile499=)
c.748C>T
n.3585C>T
n.2132C>T
c.2643C>T (p.Ile881=)
n.212-3262C>T
c.2691C>T (p.Ile897=)
c.2751C>T (p.Ile917=)
c.2301C>T (p.Ile767=)
c.603C>T (p.Ile201=)
c.2730+267C>T (n.2730+267C>T)
c.2373C>T (p.Ile791=)
c.1455C>T (p.Ile485=)
n.3006C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949740G>CCA6988910ATP7Bc.*620C>G (n.*620C>G)
c.*1531C>G (n.*1531C>G)
c.2244+267C>G (n.2244+267C>G)
c.2787C>G (p.Ile929Met)
c.2454C>G (p.Ile818Met)
c.2535C>G (p.Ile845Met)
c.2553C>G (p.Ile851Met)
c.1800+267C>G (n.1800+267C>G)
c.1497C>G (p.Ile499Met)
c.748C>G
n.3585C>G
n.2132C>G
c.2643C>G (p.Ile881Met)
n.212-3262C>G
c.2691C>G (p.Ile897Met)
c.2751C>G (p.Ile917Met)
c.2301C>G (p.Ile767Met)
c.603C>G (p.Ile201Met)
c.2730+267C>G (n.2730+267C>G)
c.2373C>G (p.Ile791Met)
c.1455C>G (p.Ile485Met)
n.3006C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949740G=CA2091541454ATP7Bc.*620C= (n.*620C=)
c.*1531C= (n.*1531C=)
c.2244+267C= (n.2244+267C=)
c.2787C= (p.Ile929=)
c.2454C= (p.Ile818=)
c.2535C= (p.Ile845=)
c.2553C= (p.Ile851=)
c.1800+267C= (n.1800+267C=)
c.1497C= (p.Ile499=)
c.748C=
n.3585C=
n.2132C=
c.2643C= (p.Ile881=)
n.212-3262C=
c.2691C= (p.Ile897=)
c.2751C= (p.Ile917=)
c.2301C= (p.Ile767=)
c.603C= (p.Ile201=)
c.2730+267C= (n.2730+267C=)
c.2373C= (p.Ile791=)
c.1455C= (p.Ile485=)
n.3006C=
13g.51949740G>TCA484024507ATP7Bc.*620C>A (n.*620C>A)
c.*1531C>A (n.*1531C>A)
c.2244+267C>A (n.2244+267C>A)
c.2787C>A (p.Ile929=)
c.2454C>A (p.Ile818=)
c.2535C>A (p.Ile845=)
c.2553C>A (p.Ile851=)
c.1800+267C>A (n.1800+267C>A)
c.1497C>A (p.Ile499=)
c.748C>A
n.3585C>A
n.2132C>A
c.2643C>A (p.Ile881=)
n.212-3262C>A
c.2691C>A (p.Ile897=)
c.2751C>A (p.Ile917=)
c.2301C>A (p.Ile767=)
c.603C>A (p.Ile201=)
c.2730+267C>A (n.2730+267C>A)
c.2373C>A (p.Ile791=)
c.1455C>A (p.Ile485=)
n.3006C>A
 ClinVar
13g.51949741A>CCA388033698ATP7Bc.*619T>G (n.*619T>G)
c.*1530T>G (n.*1530T>G)
c.2244+266T>G (n.2244+266T>G)
c.2786T>G (p.Ile929Ser)
c.2453T>G (p.Ile818Ser)
c.2534T>G (p.Ile845Ser)
c.2552T>G (p.Ile851Ser)
c.1800+266T>G (n.1800+266T>G)
c.1496T>G (p.Ile499Ser)
c.747T>G
n.3584T>G
n.2131T>G
c.2642T>G (p.Ile881Ser)
n.212-3263T>G
c.2690T>G (p.Ile897Ser)
c.2750T>G (p.Ile917Ser)
c.2300T>G (p.Ile767Ser)
c.602T>G (p.Ile201Ser)
c.2730+266T>G (n.2730+266T>G)
c.2372T>G (p.Ile791Ser)
c.1454T>G (p.Ile485Ser)
n.3005T>G
13g.51949741A>GCA388033701ATP7Bc.*619T>C (n.*619T>C)
c.*1530T>C (n.*1530T>C)
c.2244+266T>C (n.2244+266T>C)
c.2786T>C (p.Ile929Thr)
c.2453T>C (p.Ile818Thr)
c.2534T>C (p.Ile845Thr)
c.2552T>C (p.Ile851Thr)
c.1800+266T>C (n.1800+266T>C)
c.1496T>C (p.Ile499Thr)
c.747T>C
n.3584T>C
n.2131T>C
c.2642T>C (p.Ile881Thr)
n.212-3263T>C
c.2690T>C (p.Ile897Thr)
c.2750T>C (p.Ile917Thr)
c.2300T>C (p.Ile767Thr)
c.602T>C (p.Ile201Thr)
c.2730+266T>C (n.2730+266T>C)
c.2372T>C (p.Ile791Thr)
c.1454T>C (p.Ile485Thr)
n.3005T>C
13g.51949741A>TCA388033703ATP7Bc.*619T>A (n.*619T>A)
c.*1530T>A (n.*1530T>A)
c.2244+266T>A (n.2244+266T>A)
c.2786T>A (p.Ile929Asn)
c.2453T>A (p.Ile818Asn)
c.2534T>A (p.Ile845Asn)
c.2552T>A (p.Ile851Asn)
c.1800+266T>A (n.1800+266T>A)
c.1496T>A (p.Ile499Asn)
c.747T>A
n.3584T>A
n.2131T>A
c.2642T>A (p.Ile881Asn)
n.212-3263T>A
c.2690T>A (p.Ile897Asn)
c.2750T>A (p.Ile917Asn)
c.2300T>A (p.Ile767Asn)
c.602T>A (p.Ile201Asn)
c.2730+266T>A (n.2730+266T>A)
c.2372T>A (p.Ile791Asn)
c.1454T>A (p.Ile485Asn)
n.3005T>A
13g.51949742T>ACA388033706ATP7Bc.*618A>T (n.*618A>T)
c.*1529A>T (n.*1529A>T)
c.2244+265A>T (n.2244+265A>T)
c.2785A>T (p.Ile929Phe)
c.2452A>T (p.Ile818Phe)
c.2533A>T (p.Ile845Phe)
c.2551A>T (p.Ile851Phe)
c.1800+265A>T (n.1800+265A>T)
c.1495A>T (p.Ile499Phe)
c.746A>T
n.3583A>T
n.2130A>T
c.2641A>T (p.Ile881Phe)
n.212-3264A>T
c.2689A>T (p.Ile897Phe)
c.2749A>T (p.Ile917Phe)
c.2299A>T (p.Ile767Phe)
c.601A>T (p.Ile201Phe)
c.2730+265A>T (n.2730+265A>T)
c.2371A>T (p.Ile791Phe)
c.1453A>T (p.Ile485Phe)
n.3004A>T
13g.51949742T>CCA200886ATP7Bc.*618A>G (n.*618A>G)
c.*1529A>G (n.*1529A>G)
c.2244+265A>G (n.2244+265A>G)
c.2785A>G (p.Ile929Val)
c.2452A>G (p.Ile818Val)
c.2533A>G (p.Ile845Val)
c.2551A>G (p.Ile851Val)
c.1800+265A>G (n.1800+265A>G)
c.1495A>G (p.Ile499Val)
c.746A>G
n.3583A>G
n.2130A>G
c.2641A>G (p.Ile881Val)
n.212-3264A>G
c.2689A>G (p.Ile897Val)
c.2749A>G (p.Ile917Val)
c.2299A>G (p.Ile767Val)
c.601A>G (p.Ile201Val)
c.2730+265A>G (n.2730+265A>G)
c.2371A>G (p.Ile791Val)
c.1453A>G (p.Ile485Val)
n.3004A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949742T>GCA388033709ATP7Bc.*618A>C (n.*618A>C)
c.*1529A>C (n.*1529A>C)
c.2244+265A>C (n.2244+265A>C)
c.2785A>C (p.Ile929Leu)
c.2452A>C (p.Ile818Leu)
c.2533A>C (p.Ile845Leu)
c.2551A>C (p.Ile851Leu)
c.1800+265A>C (n.1800+265A>C)
c.1495A>C (p.Ile499Leu)
c.746A>C
n.3583A>C
n.2130A>C
c.2641A>C (p.Ile881Leu)
n.212-3264A>C
c.2689A>C (p.Ile897Leu)
c.2749A>C (p.Ile917Leu)
c.2299A>C (p.Ile767Leu)
c.601A>C (p.Ile201Leu)
c.2730+265A>C (n.2730+265A>C)
c.2371A>C (p.Ile791Leu)
c.1453A>C (p.Ile485Leu)
n.3004A>C
13g.51949742T=CA2091541462ATP7Bc.*618A= (n.*618A=)
c.*1529A= (n.*1529A=)
c.2244+265A= (n.2244+265A=)
c.2785A= (p.Ile929=)
c.2452A= (p.Ile818=)
c.2533A= (p.Ile845=)
c.2551A= (p.Ile851=)
c.1800+265A= (n.1800+265A=)
c.1495A= (p.Ile499=)
c.746A=
n.3583A=
n.2130A=
c.2641A= (p.Ile881=)
n.212-3264A=
c.2689A= (p.Ile897=)
c.2749A= (p.Ile917=)
c.2299A= (p.Ile767=)
c.601A= (p.Ile201=)
c.2730+265A= (n.2730+265A=)
c.2371A= (p.Ile791=)
c.1453A= (p.Ile485=)
n.3004A=
13g.51949743G>ACA484024508ATP7Bc.*617C>T (n.*617C>T)
c.*1528C>T (n.*1528C>T)
c.2244+264C>T (n.2244+264C>T)
c.2784C>T (p.Ile928=)
c.2451C>T (p.Ile817=)
c.2532C>T (p.Ile844=)
c.2550C>T (p.Ile850=)
c.1800+264C>T (n.1800+264C>T)
c.1494C>T (p.Ile498=)
c.745C>T
n.3582C>T
n.2129C>T
c.2640C>T (p.Ile880=)
n.212-3265C>T
c.2688C>T (p.Ile896=)
c.2748C>T (p.Ile916=)
c.2298C>T (p.Ile766=)
c.600C>T (p.Ile200=)
c.2730+264C>T (n.2730+264C>T)
c.2370C>T (p.Ile790=)
c.1452C>T (p.Ile484=)
n.3003C>T
13g.51949743G>CCA388033711ATP7Bc.*617C>G (n.*617C>G)
c.*1528C>G (n.*1528C>G)
c.2244+264C>G (n.2244+264C>G)
c.2784C>G (p.Ile928Met)
c.2451C>G (p.Ile817Met)
c.2532C>G (p.Ile844Met)
c.2550C>G (p.Ile850Met)
c.1800+264C>G (n.1800+264C>G)
c.1494C>G (p.Ile498Met)
c.745C>G
n.3582C>G
n.2129C>G
c.2640C>G (p.Ile880Met)
n.212-3265C>G
c.2688C>G (p.Ile896Met)
c.2748C>G (p.Ile916Met)
c.2298C>G (p.Ile766Met)
c.600C>G (p.Ile200Met)
c.2730+264C>G (n.2730+264C>G)
c.2370C>G (p.Ile790Met)
c.1452C>G (p.Ile484Met)
n.3003C>G
13g.51949743G>TCA484024509ATP7Bc.*617C>A (n.*617C>A)
c.*1528C>A (n.*1528C>A)
c.2244+264C>A (n.2244+264C>A)
c.2784C>A (p.Ile928=)
c.2451C>A (p.Ile817=)
c.2532C>A (p.Ile844=)
c.2550C>A (p.Ile850=)
c.1800+264C>A (n.1800+264C>A)
c.1494C>A (p.Ile498=)
c.745C>A
n.3582C>A
n.2129C>A
c.2640C>A (p.Ile880=)
n.212-3265C>A
c.2688C>A (p.Ile896=)
c.2748C>A (p.Ile916=)
c.2298C>A (p.Ile766=)
c.600C>A (p.Ile200=)
c.2730+264C>A (n.2730+264C>A)
c.2370C>A (p.Ile790=)
c.1452C>A (p.Ile484=)
n.3003C>A
13g.51949744A>CCA388033712ATP7Bc.*616T>G (n.*616T>G)
c.*1527T>G (n.*1527T>G)
c.2244+263T>G (n.2244+263T>G)
c.2783T>G (p.Ile928Ser)
c.2450T>G (p.Ile817Ser)
c.2531T>G (p.Ile844Ser)
c.2549T>G (p.Ile850Ser)
c.1800+263T>G (n.1800+263T>G)
c.1493T>G (p.Ile498Ser)
c.744T>G
n.3581T>G
n.2128T>G
c.2639T>G (p.Ile880Ser)
n.212-3266T>G
c.2687T>G (p.Ile896Ser)
c.2747T>G (p.Ile916Ser)
c.2297T>G (p.Ile766Ser)
c.599T>G (p.Ile200Ser)
c.2730+263T>G (n.2730+263T>G)
c.2369T>G (p.Ile790Ser)
c.1451T>G (p.Ile484Ser)
n.3002T>G
13g.51949744A>GCA388033713ATP7Bc.*616T>C (n.*616T>C)
c.*1527T>C (n.*1527T>C)
c.2244+263T>C (n.2244+263T>C)
c.2783T>C (p.Ile928Thr)
c.2450T>C (p.Ile817Thr)
c.2531T>C (p.Ile844Thr)
c.2549T>C (p.Ile850Thr)
c.1800+263T>C (n.1800+263T>C)
c.1493T>C (p.Ile498Thr)
c.744T>C
n.3581T>C
n.2128T>C
c.2639T>C (p.Ile880Thr)
n.212-3266T>C
c.2687T>C (p.Ile896Thr)
c.2747T>C (p.Ile916Thr)
c.2297T>C (p.Ile766Thr)
c.599T>C (p.Ile200Thr)
c.2730+263T>C (n.2730+263T>C)
c.2369T>C (p.Ile790Thr)
c.1451T>C (p.Ile484Thr)
n.3002T>C
13g.51949744A>TCA388033715ATP7Bc.*616T>A (n.*616T>A)
c.*1527T>A (n.*1527T>A)
c.2244+263T>A (n.2244+263T>A)
c.2783T>A (p.Ile928Asn)
c.2450T>A (p.Ile817Asn)
c.2531T>A (p.Ile844Asn)
c.2549T>A (p.Ile850Asn)
c.1800+263T>A (n.1800+263T>A)
c.1493T>A (p.Ile498Asn)
c.744T>A
n.3581T>A
n.2128T>A
c.2639T>A (p.Ile880Asn)
n.212-3266T>A
c.2687T>A (p.Ile896Asn)
c.2747T>A (p.Ile916Asn)
c.2297T>A (p.Ile766Asn)
c.599T>A (p.Ile200Asn)
c.2730+263T>A (n.2730+263T>A)
c.2369T>A (p.Ile790Asn)
c.1451T>A (p.Ile484Asn)
n.3002T>A
13g.51949745T>ACA388033716ATP7Bc.*615A>T (n.*615A>T)
c.*1526A>T (n.*1526A>T)
c.2244+262A>T (n.2244+262A>T)
c.2782A>T (p.Ile928Phe)
c.2449A>T (p.Ile817Phe)
c.2530A>T (p.Ile844Phe)
c.2548A>T (p.Ile850Phe)
c.1800+262A>T (n.1800+262A>T)
c.1492A>T (p.Ile498Phe)
c.743A>T
n.3580A>T
n.2127A>T
c.2638A>T (p.Ile880Phe)
n.212-3267A>T
c.2686A>T (p.Ile896Phe)
c.2746A>T (p.Ile916Phe)
c.2296A>T (p.Ile766Phe)
c.598A>T (p.Ile200Phe)
c.2730+262A>T (n.2730+262A>T)
c.2368A>T (p.Ile790Phe)
c.1450A>T (p.Ile484Phe)
n.3001A>T
13g.51949745T>CCA388033719ATP7Bc.*615A>G (n.*615A>G)
c.*1526A>G (n.*1526A>G)
c.2244+262A>G (n.2244+262A>G)
c.2782A>G (p.Ile928Val)
c.2449A>G (p.Ile817Val)
c.2530A>G (p.Ile844Val)
c.2548A>G (p.Ile850Val)
c.1800+262A>G (n.1800+262A>G)
c.1492A>G (p.Ile498Val)
c.743A>G
n.3580A>G
n.2127A>G
c.2638A>G (p.Ile880Val)
n.212-3267A>G
c.2686A>G (p.Ile896Val)
c.2746A>G (p.Ile916Val)
c.2296A>G (p.Ile766Val)
c.598A>G (p.Ile200Val)
c.2730+262A>G (n.2730+262A>G)
c.2368A>G (p.Ile790Val)
c.1450A>G (p.Ile484Val)
n.3001A>G
 gnomAD v4
13g.51949745T>GCA388033720ATP7Bc.*615A>C (n.*615A>C)
c.*1526A>C (n.*1526A>C)
c.2244+262A>C (n.2244+262A>C)
c.2782A>C (p.Ile928Leu)
c.2449A>C (p.Ile817Leu)
c.2530A>C (p.Ile844Leu)
c.2548A>C (p.Ile850Leu)
c.1800+262A>C (n.1800+262A>C)
c.1492A>C (p.Ile498Leu)
c.743A>C
n.3580A>C
n.2127A>C
c.2638A>C (p.Ile880Leu)
n.212-3267A>C
c.2686A>C (p.Ile896Leu)
c.2746A>C (p.Ile916Leu)
c.2296A>C (p.Ile766Leu)
c.598A>C (p.Ile200Leu)
c.2730+262A>C (n.2730+262A>C)
c.2368A>C (p.Ile790Leu)
c.1450A>C (p.Ile484Leu)
n.3001A>C
13g.51949745_51949746delinsTACA2091541466ATP7Bc.*614_*615delinsTA (n.*614_*615delinsTA)
c.*1525_*1526delinsTA (n.*1525_*1526delinsTA)
c.2244+261_2244+262delinsTA (n.2244+261_2244+262delinsTA)
c.2781_2782delinsTA (p.Phe927=)
c.2448_2449delinsTA (p.Phe816=)
c.2529_2530delinsTA (p.Phe843=)
c.2547_2548delinsTA (p.Phe849=)
c.1800+261_1800+262delinsTA (n.1800+261_1800+262delinsTA)
c.1491_1492delinsTA (p.Phe497=)
c.742_743delinsTA
n.3579_3580delinsTA
n.2126_2127delinsTA
c.2637_2638delinsTA (p.Phe879=)
n.212-3268_212-3267delinsTA
c.2685_2686delinsTA (p.Phe895=)
c.2745_2746delinsTA (p.Phe915=)
c.2295_2296delinsTA (p.Phe765=)
c.597_598delinsTA (p.Phe199=)
c.2730+261_2730+262delinsTA (n.2730+261_2730+262delinsTA)
c.2367_2368delinsTA (p.Phe789=)
c.1449_1450delinsTA (p.Phe483=)
n.3000_3001delinsTA
13g.51949746A>CCA388033722ATP7Bc.*614T>G (n.*614T>G)
c.*1525T>G (n.*1525T>G)
c.2244+261T>G (n.2244+261T>G)
c.2781T>G (p.Phe927Leu)
c.2448T>G (p.Phe816Leu)
c.2529T>G (p.Phe843Leu)
c.2547T>G (p.Phe849Leu)
c.1800+261T>G (n.1800+261T>G)
c.1491T>G (p.Phe497Leu)
c.742T>G
n.3579T>G
n.2126T>G
c.2637T>G (p.Phe879Leu)
n.212-3268T>G
c.2685T>G (p.Phe895Leu)
c.2745T>G (p.Phe915Leu)
c.2295T>G (p.Phe765Leu)
c.597T>G (p.Phe199Leu)
c.2730+261T>G (n.2730+261T>G)
c.2367T>G (p.Phe789Leu)
c.1449T>G (p.Phe483Leu)
n.3000T>G
13g.51949746A>GCA484024510ATP7Bc.*614T>C (n.*614T>C)
c.*1525T>C (n.*1525T>C)
c.2244+261T>C (n.2244+261T>C)
c.2781T>C (p.Phe927=)
c.2448T>C (p.Phe816=)
c.2529T>C (p.Phe843=)
c.2547T>C (p.Phe849=)
c.1800+261T>C (n.1800+261T>C)
c.1491T>C (p.Phe497=)
c.742T>C
n.3579T>C
n.2126T>C
c.2637T>C (p.Phe879=)
n.212-3268T>C
c.2685T>C (p.Phe895=)
c.2745T>C (p.Phe915=)
c.2295T>C (p.Phe765=)
c.597T>C (p.Phe199=)
c.2730+261T>C (n.2730+261T>C)
c.2367T>C (p.Phe789=)
c.1449T>C (p.Phe483=)
n.3000T>C
13g.51949746A>TCA388033724ATP7Bc.*614T>A (n.*614T>A)
c.*1525T>A (n.*1525T>A)
c.2244+261T>A (n.2244+261T>A)
c.2781T>A (p.Phe927Leu)
c.2448T>A (p.Phe816Leu)
c.2529T>A (p.Phe843Leu)
c.2547T>A (p.Phe849Leu)
c.1800+261T>A (n.1800+261T>A)
c.1491T>A (p.Phe497Leu)
c.742T>A
n.3579T>A
n.2126T>A
c.2637T>A (p.Phe879Leu)
n.212-3268T>A
c.2685T>A (p.Phe895Leu)
c.2745T>A (p.Phe915Leu)
c.2295T>A (p.Phe765Leu)
c.597T>A (p.Phe199Leu)
c.2730+261T>A (n.2730+261T>A)
c.2367T>A (p.Phe789Leu)
c.1449T>A (p.Phe483Leu)
n.3000T>A
13g.51949748delCA916083357ATP7Bc.*614del (n.*614del)
c.*1525del (n.*1525del)
c.2244+261del (n.2244+261del)
c.2781del (p.Phe927LeufsTer8)
c.2448del (p.Phe816LeufsTer8)
c.2529del (p.Phe843LeufsTer8)
c.2547del (p.Phe849LeufsTer8)
c.1800+261del (n.1800+261del)
c.1491del (p.Phe497LeufsTer8)
c.742del
n.3579del
n.2126del
c.2637del (p.Phe879LeufsTer8)
n.212-3268del
c.2685del (p.Phe895LeufsTer8)
c.2745del (p.Phe915LeufsTer8)
c.2295del (p.Phe765LeufsTer8)
c.597del (p.Phe199LeufsTer8)
c.2730+261del (n.2730+261del)
c.2367del (p.Phe789LeufsTer8)
c.1449del (p.Phe483LeufsTer8)
n.3000del
 ClinVar dbSNP
13g.51949747A>CCA388033726ATP7Bc.*613T>G (n.*613T>G)
c.*1524T>G (n.*1524T>G)
c.2244+260T>G (n.2244+260T>G)
c.2780T>G (p.Phe927Cys)
c.2447T>G (p.Phe816Cys)
c.2528T>G (p.Phe843Cys)
c.2546T>G (p.Phe849Cys)
c.1800+260T>G (n.1800+260T>G)
c.1490T>G (p.Phe497Cys)
c.741T>G
n.3578T>G
n.2125T>G
c.2636T>G (p.Phe879Cys)
n.212-3269T>G
c.2684T>G (p.Phe895Cys)
c.2744T>G (p.Phe915Cys)
c.2294T>G (p.Phe765Cys)
c.596T>G (p.Phe199Cys)
c.2730+260T>G (n.2730+260T>G)
c.2366T>G (p.Phe789Cys)
c.1448T>G (p.Phe483Cys)
n.2999T>G
13g.51949747A>GCA388033727ATP7Bc.*613T>C (n.*613T>C)
c.*1524T>C (n.*1524T>C)
c.2244+260T>C (n.2244+260T>C)
c.2780T>C (p.Phe927Ser)
c.2447T>C (p.Phe816Ser)
c.2528T>C (p.Phe843Ser)
c.2546T>C (p.Phe849Ser)
c.1800+260T>C (n.1800+260T>C)
c.1490T>C (p.Phe497Ser)
c.741T>C
n.3578T>C
n.2125T>C
c.2636T>C (p.Phe879Ser)
n.212-3269T>C
c.2684T>C (p.Phe895Ser)
c.2744T>C (p.Phe915Ser)
c.2294T>C (p.Phe765Ser)
c.596T>C (p.Phe199Ser)
c.2730+260T>C (n.2730+260T>C)
c.2366T>C (p.Phe789Ser)
c.1448T>C (p.Phe483Ser)
n.2999T>C
13g.51949747A>TCA388033730ATP7Bc.*613T>A (n.*613T>A)
c.*1524T>A (n.*1524T>A)
c.2244+260T>A (n.2244+260T>A)
c.2780T>A (p.Phe927Tyr)
c.2447T>A (p.Phe816Tyr)
c.2528T>A (p.Phe843Tyr)
c.2546T>A (p.Phe849Tyr)
c.1800+260T>A (n.1800+260T>A)
c.1490T>A (p.Phe497Tyr)
c.741T>A
n.3578T>A
n.2125T>A
c.2636T>A (p.Phe879Tyr)
n.212-3269T>A
c.2684T>A (p.Phe895Tyr)
c.2744T>A (p.Phe915Tyr)
c.2294T>A (p.Phe765Tyr)
c.596T>A (p.Phe199Tyr)
c.2730+260T>A (n.2730+260T>A)
c.2366T>A (p.Phe789Tyr)
c.1448T>A (p.Phe483Tyr)
n.2999T>A
13g.51949748A>CCA388033732ATP7Bc.*612T>G (n.*612T>G)
c.*1523T>G (n.*1523T>G)
c.2244+259T>G (n.2244+259T>G)
c.2779T>G (p.Phe927Val)
c.2446T>G (p.Phe816Val)
c.2527T>G (p.Phe843Val)
c.2545T>G (p.Phe849Val)
c.1800+259T>G (n.1800+259T>G)
c.1489T>G (p.Phe497Val)
c.740T>G
n.3577T>G
n.2124T>G
c.2635T>G (p.Phe879Val)
n.212-3270T>G
c.2683T>G (p.Phe895Val)
c.2743T>G (p.Phe915Val)
c.2293T>G (p.Phe765Val)
c.595T>G (p.Phe199Val)
c.2730+259T>G (n.2730+259T>G)
c.2365T>G (p.Phe789Val)
c.1447T>G (p.Phe483Val)
n.2998T>G
13g.51949748A>GCA388033733ATP7Bc.*612T>C (n.*612T>C)
c.*1523T>C (n.*1523T>C)
c.2244+259T>C (n.2244+259T>C)
c.2779T>C (p.Phe927Leu)
c.2446T>C (p.Phe816Leu)
c.2527T>C (p.Phe843Leu)
c.2545T>C (p.Phe849Leu)
c.1800+259T>C (n.1800+259T>C)
c.1489T>C (p.Phe497Leu)
c.740T>C
n.3577T>C
n.2124T>C
c.2635T>C (p.Phe879Leu)
n.212-3270T>C
c.2683T>C (p.Phe895Leu)
c.2743T>C (p.Phe915Leu)
c.2293T>C (p.Phe765Leu)
c.595T>C (p.Phe199Leu)
c.2730+259T>C (n.2730+259T>C)
c.2365T>C (p.Phe789Leu)
c.1447T>C (p.Phe483Leu)
n.2998T>C
13g.51949748A>TCA388033735ATP7Bc.*612T>A (n.*612T>A)
c.*1523T>A (n.*1523T>A)
c.2244+259T>A (n.2244+259T>A)
c.2779T>A (p.Phe927Ile)
c.2446T>A (p.Phe816Ile)
c.2527T>A (p.Phe843Ile)
c.2545T>A (p.Phe849Ile)
c.1800+259T>A (n.1800+259T>A)
c.1489T>A (p.Phe497Ile)
c.740T>A
n.3577T>A
n.2124T>A
c.2635T>A (p.Phe879Ile)
n.212-3270T>A
c.2683T>A (p.Phe895Ile)
c.2743T>A (p.Phe915Ile)
c.2293T>A (p.Phe765Ile)
c.595T>A (p.Phe199Ile)
c.2730+259T>A (n.2730+259T>A)
c.2365T>A (p.Phe789Ile)
c.1447T>A (p.Phe483Ile)
n.2998T>A
13g.51949749T>ACA484024511ATP7Bc.*611A>T (n.*611A>T)
c.*1522A>T (n.*1522A>T)
c.2244+258A>T (n.2244+258A>T)
c.2778A>T (p.Pro926=)
c.2445A>T (p.Pro815=)
c.2526A>T (p.Pro842=)
c.2544A>T (p.Pro848=)
c.1800+258A>T (n.1800+258A>T)
c.1488A>T (p.Pro496=)
c.739A>T
n.3576A>T
n.2123A>T
c.2634A>T (p.Pro878=)
n.212-3271A>T
c.2682A>T (p.Pro894=)
c.2742A>T (p.Pro914=)
c.2292A>T (p.Pro764=)
c.594A>T (p.Pro198=)
c.2730+258A>T (n.2730+258A>T)
c.2364A>T (p.Pro788=)
c.1446A>T (p.Pro482=)
n.2997A>T
13g.51949749T>CCA484024512ATP7Bc.*611A>G (n.*611A>G)
c.*1522A>G (n.*1522A>G)
c.2244+258A>G (n.2244+258A>G)
c.2778A>G (p.Pro926=)
c.2445A>G (p.Pro815=)
c.2526A>G (p.Pro842=)
c.2544A>G (p.Pro848=)
c.1800+258A>G (n.1800+258A>G)
c.1488A>G (p.Pro496=)
c.739A>G
n.3576A>G
n.2123A>G
c.2634A>G (p.Pro878=)
n.212-3271A>G
c.2682A>G (p.Pro894=)
c.2742A>G (p.Pro914=)
c.2292A>G (p.Pro764=)
c.594A>G (p.Pro198=)
c.2730+258A>G (n.2730+258A>G)
c.2364A>G (p.Pro788=)
c.1446A>G (p.Pro482=)
n.2997A>G
 ClinVar
13g.51949749T>GCA484024513ATP7Bc.*611A>C (n.*611A>C)
c.*1522A>C (n.*1522A>C)
c.2244+258A>C (n.2244+258A>C)
c.2778A>C (p.Pro926=)
c.2445A>C (p.Pro815=)
c.2526A>C (p.Pro842=)
c.2544A>C (p.Pro848=)
c.1800+258A>C (n.1800+258A>C)
c.1488A>C (p.Pro496=)
c.739A>C
n.3576A>C
n.2123A>C
c.2634A>C (p.Pro878=)
n.212-3271A>C
c.2682A>C (p.Pro894=)
c.2742A>C (p.Pro914=)
c.2292A>C (p.Pro764=)
c.594A>C (p.Pro198=)
c.2730+258A>C (n.2730+258A>C)
c.2364A>C (p.Pro788=)
c.1446A>C (p.Pro482=)
n.2997A>C
13g.51949750G>ACA388033741ATP7Bc.*610C>T (n.*610C>T)
c.*1521C>T (n.*1521C>T)
c.2244+257C>T (n.2244+257C>T)
c.2777C>T (p.Pro926Leu)
c.2444C>T (p.Pro815Leu)
c.2525C>T (p.Pro842Leu)
c.2543C>T (p.Pro848Leu)
c.1800+257C>T (n.1800+257C>T)
c.1487C>T (p.Pro496Leu)
c.738C>T
n.3575C>T
n.2122C>T
c.2633C>T (p.Pro878Leu)
n.212-3272C>T
c.2681C>T (p.Pro894Leu)
c.2741C>T (p.Pro914Leu)
c.2291C>T (p.Pro764Leu)
c.593C>T (p.Pro198Leu)
c.2730+257C>T (n.2730+257C>T)
c.2363C>T (p.Pro788Leu)
c.1445C>T (p.Pro482Leu)
n.2996C>T
13g.51949750G>CCA6988911ATP7Bc.*610C>G (n.*610C>G)
c.*1521C>G (n.*1521C>G)
c.2244+257C>G (n.2244+257C>G)
c.2777C>G (p.Pro926Arg)
c.2444C>G (p.Pro815Arg)
c.2525C>G (p.Pro842Arg)
c.2543C>G (p.Pro848Arg)
c.1800+257C>G (n.1800+257C>G)
c.1487C>G (p.Pro496Arg)
c.738C>G
n.3575C>G
n.2122C>G
c.2633C>G (p.Pro878Arg)
n.212-3272C>G
c.2681C>G (p.Pro894Arg)
c.2741C>G (p.Pro914Arg)
c.2291C>G (p.Pro764Arg)
c.593C>G (p.Pro198Arg)
c.2730+257C>G (n.2730+257C>G)
c.2363C>G (p.Pro788Arg)
c.1445C>G (p.Pro482Arg)
n.2996C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51949750G=CA2091541475ATP7Bc.*610C= (n.*610C=)
c.*1521C= (n.*1521C=)
c.2244+257C= (n.2244+257C=)
c.2777C= (p.Pro926=)
c.2444C= (p.Pro815=)
c.2525C= (p.Pro842=)
c.2543C= (p.Pro848=)
c.1800+257C= (n.1800+257C=)
c.1487C= (p.Pro496=)
c.738C=
n.3575C=
n.2122C=
c.2633C= (p.Pro878=)
n.212-3272C=
c.2681C= (p.Pro894=)
c.2741C= (p.Pro914=)
c.2291C= (p.Pro764=)
c.593C= (p.Pro198=)
c.2730+257C= (n.2730+257C=)
c.2363C= (p.Pro788=)
c.1445C= (p.Pro482=)
n.2996C=
13g.51949750G>TCA388033740ATP7Bc.*610C>A (n.*610C>A)
c.*1521C>A (n.*1521C>A)
c.2244+257C>A (n.2244+257C>A)
c.2777C>A (p.Pro926Gln)
c.2444C>A (p.Pro815Gln)
c.2525C>A (p.Pro842Gln)
c.2543C>A (p.Pro848Gln)
c.1800+257C>A (n.1800+257C>A)
c.1487C>A (p.Pro496Gln)
c.738C>A
n.3575C>A
n.2122C>A
c.2633C>A (p.Pro878Gln)
n.212-3272C>A
c.2681C>A (p.Pro894Gln)
c.2741C>A (p.Pro914Gln)
c.2291C>A (p.Pro764Gln)
c.593C>A (p.Pro198Gln)
c.2730+257C>A (n.2730+257C>A)
c.2363C>A (p.Pro788Gln)
c.1445C>A (p.Pro482Gln)
n.2996C>A
13g.51949751G>ACA250084871ATP7Bc.*609C>T (n.*609C>T)
c.*1520C>T (n.*1520C>T)
c.2244+256C>T (n.2244+256C>T)
c.2776C>T (p.Pro926Ser)
c.2443C>T (p.Pro815Ser)
c.2524C>T (p.Pro842Ser)
c.2542C>T (p.Pro848Ser)
c.1800+256C>T (n.1800+256C>T)
c.1486C>T (p.Pro496Ser)
c.737C>T
n.3574C>T
n.2121C>T
c.2632C>T (p.Pro878Ser)
n.212-3273C>T
c.2680C>T (p.Pro894Ser)
c.2740C>T (p.Pro914Ser)
c.2290C>T (p.Pro764Ser)
c.592C>T (p.Pro198Ser)
c.2730+256C>T (n.2730+256C>T)
c.2362C>T (p.Pro788Ser)
c.1444C>T (p.Pro482Ser)
n.2995C>T
 dbSNP
13g.51949751G>CCA250084876ATP7Bc.*609C>G (n.*609C>G)
c.*1520C>G (n.*1520C>G)
c.2244+256C>G (n.2244+256C>G)
c.2776C>G (p.Pro926Ala)
c.2443C>G (p.Pro815Ala)
c.2524C>G (p.Pro842Ala)
c.2542C>G (p.Pro848Ala)
c.1800+256C>G (n.1800+256C>G)
c.1486C>G (p.Pro496Ala)
c.737C>G
n.3574C>G
n.2121C>G
c.2632C>G (p.Pro878Ala)
n.212-3273C>G
c.2680C>G (p.Pro894Ala)
c.2740C>G (p.Pro914Ala)
c.2290C>G (p.Pro764Ala)
c.592C>G (p.Pro198Ala)
c.2730+256C>G (n.2730+256C>G)
c.2362C>G (p.Pro788Ala)
c.1444C>G (p.Pro482Ala)
n.2995C>G
 dbSNP gnomAD v4
13g.51949751G=CA2091541478ATP7Bc.*609C= (n.*609C=)
c.*1520C= (n.*1520C=)
c.2244+256C= (n.2244+256C=)
c.2776C= (p.Pro926=)
c.2443C= (p.Pro815=)
c.2524C= (p.Pro842=)
c.2542C= (p.Pro848=)
c.1800+256C= (n.1800+256C=)
c.1486C= (p.Pro496=)
c.737C=
n.3574C=
n.2121C=
c.2632C= (p.Pro878=)
n.212-3273C=
c.2680C= (p.Pro894=)
c.2740C= (p.Pro914=)
c.2290C= (p.Pro764=)
c.592C= (p.Pro198=)
c.2730+256C= (n.2730+256C=)
c.2362C= (p.Pro788=)
c.1444C= (p.Pro482=)
n.2995C=
13g.51949751G>TCA388033747ATP7Bc.*609C>A (n.*609C>A)
c.*1520C>A (n.*1520C>A)
c.2244+256C>A (n.2244+256C>A)
c.2776C>A (p.Pro926Thr)
c.2443C>A (p.Pro815Thr)
c.2524C>A (p.Pro842Thr)
c.2542C>A (p.Pro848Thr)
c.1800+256C>A (n.1800+256C>A)
c.1486C>A (p.Pro496Thr)
c.737C>A
n.3574C>A
n.2121C>A
c.2632C>A (p.Pro878Thr)
n.212-3273C>A
c.2680C>A (p.Pro894Thr)
c.2740C>A (p.Pro914Thr)
c.2290C>A (p.Pro764Thr)
c.592C>A (p.Pro198Thr)
c.2730+256C>A (n.2730+256C>A)
c.2362C>A (p.Pro788Thr)
c.1444C>A (p.Pro482Thr)
n.2995C>A
13g.51949752G>ACA484024516ATP7Bc.*608C>T (n.*608C>T)
c.*1519C>T (n.*1519C>T)
c.2244+255C>T (n.2244+255C>T)
c.2775C>T (p.Val925=)
c.2442C>T (p.Val814=)
c.2523C>T (p.Val841=)
c.2541C>T (p.Val847=)
c.1800+255C>T (n.1800+255C>T)
c.1485C>T (p.Val495=)
c.736C>T
n.3573C>T
n.2120C>T
c.2631C>T (p.Val877=)
n.212-3274C>T
c.2679C>T (p.Val893=)
c.2739C>T (p.Val913=)
c.2289C>T (p.Val763=)
c.591C>T (p.Val197=)
c.2730+255C>T (n.2730+255C>T)
c.2361C>T (p.Val787=)
c.1443C>T (p.Val481=)
n.2994C>T
13g.51949752G>CCA484024515ATP7Bc.*608C>G (n.*608C>G)
c.*1519C>G (n.*1519C>G)
c.2244+255C>G (n.2244+255C>G)
c.2775C>G (p.Val925=)
c.2442C>G (p.Val814=)
c.2523C>G (p.Val841=)
c.2541C>G (p.Val847=)
c.1800+255C>G (n.1800+255C>G)
c.1485C>G (p.Val495=)
c.736C>G
n.3573C>G
n.2120C>G
c.2631C>G (p.Val877=)
n.212-3274C>G
c.2679C>G (p.Val893=)
c.2739C>G (p.Val913=)
c.2289C>G (p.Val763=)
c.591C>G (p.Val197=)
c.2730+255C>G (n.2730+255C>G)
c.2361C>G (p.Val787=)
c.1443C>G (p.Val481=)
n.2994C>G
13g.51949752G>TCA484024514ATP7Bc.*608C>A (n.*608C>A)
c.*1519C>A (n.*1519C>A)
c.2244+255C>A (n.2244+255C>A)
c.2775C>A (p.Val925=)
c.2442C>A (p.Val814=)
c.2523C>A (p.Val841=)
c.2541C>A (p.Val847=)
c.1800+255C>A (n.1800+255C>A)
c.1485C>A (p.Val495=)
c.736C>A
n.3573C>A
n.2120C>A
c.2631C>A (p.Val877=)
n.212-3274C>A
c.2679C>A (p.Val893=)
c.2739C>A (p.Val913=)
c.2289C>A (p.Val763=)
c.591C>A (p.Val197=)
c.2730+255C>A (n.2730+255C>A)
c.2361C>A (p.Val787=)
c.1443C>A (p.Val481=)
n.2994C>A
13g.51949753A>CCA388033750ATP7Bc.*607T>G (n.*607T>G)
c.*1518T>G (n.*1518T>G)
c.2244+254T>G (n.2244+254T>G)
c.2774T>G (p.Val925Gly)
c.2441T>G (p.Val814Gly)
c.2522T>G (p.Val841Gly)
c.2540T>G (p.Val847Gly)
c.1800+254T>G (n.1800+254T>G)
c.1484T>G (p.Val495Gly)
c.735T>G
n.3572T>G
n.2119T>G
c.2630T>G (p.Val877Gly)
n.212-3275T>G
c.2678T>G (p.Val893Gly)
c.2738T>G (p.Val913Gly)
c.2288T>G (p.Val763Gly)
c.590T>G (p.Val197Gly)
c.2730+254T>G (n.2730+254T>G)
c.2360T>G (p.Val787Gly)
c.1442T>G (p.Val481Gly)
n.2993T>G
13g.51949753A>GCA388033753ATP7Bc.*607T>C (n.*607T>C)
c.*1518T>C (n.*1518T>C)
c.2244+254T>C (n.2244+254T>C)
c.2774T>C (p.Val925Ala)
c.2441T>C (p.Val814Ala)
c.2522T>C (p.Val841Ala)
c.2540T>C (p.Val847Ala)
c.1800+254T>C (n.1800+254T>C)
c.1484T>C (p.Val495Ala)
c.735T>C
n.3572T>C
n.2119T>C
c.2630T>C (p.Val877Ala)
n.212-3275T>C
c.2678T>C (p.Val893Ala)
c.2738T>C (p.Val913Ala)
c.2288T>C (p.Val763Ala)
c.590T>C (p.Val197Ala)
c.2730+254T>C (n.2730+254T>C)
c.2360T>C (p.Val787Ala)
c.1442T>C (p.Val481Ala)
n.2993T>C
 COSMIC
13g.51949753A>TCA388033755ATP7Bc.*607T>A (n.*607T>A)
c.*1518T>A (n.*1518T>A)
c.2244+254T>A (n.2244+254T>A)
c.2774T>A (p.Val925Asp)
c.2441T>A (p.Val814Asp)
c.2522T>A (p.Val841Asp)
c.2540T>A (p.Val847Asp)
c.1800+254T>A (n.1800+254T>A)
c.1484T>A (p.Val495Asp)
c.735T>A
n.3572T>A
n.2119T>A
c.2630T>A (p.Val877Asp)
n.212-3275T>A
c.2678T>A (p.Val893Asp)
c.2738T>A (p.Val913Asp)
c.2288T>A (p.Val763Asp)
c.590T>A (p.Val197Asp)
c.2730+254T>A (n.2730+254T>A)
c.2360T>A (p.Val787Asp)
c.1442T>A (p.Val481Asp)
n.2993T>A
13g.51949753_51949762delinsACAAAATATCCA2091541483ATP7Bc.*598_*607delinsGATATTTTGT (n.*598_*607delinsGATATTTTGT)
c.*1509_*1518delinsGATATTTTGT (n.*1509_*1518delinsGATATTTTGT)
c.2244+245_2244+254delinsGATATTTTGT (n.2244+245_2244+254delinsGATATTTTGT)
c.2765_2774delinsGATATTTTGT (p.Gly922=)
c.2432_2441delinsGATATTTTGT (p.Gly811=)
c.2513_2522delinsGATATTTTGT (p.Gly838=)
c.2531_2540delinsGATATTTTGT (p.Gly844=)
c.1800+245_1800+254delinsGATATTTTGT (n.1800+245_1800+254delinsGATATTTTGT)
c.1475_1484delinsGATATTTTGT (p.Gly492=)
c.726_735delinsGATATTTTGT
n.3563_3572delinsGATATTTTGT
n.2110_2119delinsGATATTTTGT
c.2621_2630delinsGATATTTTGT (p.Gly874=)
n.212-3284_212-3275delinsGATATTTTGT
c.2669_2678delinsGATATTTTGT (p.Gly890=)
c.2729_2738delinsGATATTTTGT (p.Gly910=)
c.2279_2288delinsGATATTTTGT (p.Gly760=)
c.581_590delinsGATATTTTGT (p.Gly194=)
c.2730+245_2730+254delinsGATATTTTGT (n.2730+245_2730+254delinsGATATTTTGT)
c.2351_2360delinsGATATTTTGT (p.Gly784=)
c.1433_1442delinsGATATTTTGT (p.Gly478=)
n.2984_2993delinsGATATTTTGT
13g.51949754C>ACA250084890ATP7Bc.*606G>T (n.*606G>T)
c.*1517G>T (n.*1517G>T)
c.2244+253G>T (n.2244+253G>T)
c.2773G>T (p.Val925Phe)
c.2440G>T (p.Val814Phe)
c.2521G>T (p.Val841Phe)
c.2539G>T (p.Val847Phe)
c.1800+253G>T (n.1800+253G>T)
c.1483G>T (p.Val495Phe)
c.734G>T
n.3571G>T
n.2118G>T
c.2629G>T (p.Val877Phe)
n.212-3276G>T
c.2677G>T (p.Val893Phe)
c.2737G>T (p.Val913Phe)
c.2287G>T (p.Val763Phe)
c.589G>T (p.Val197Phe)
c.2730+253G>T (n.2730+253G>T)
c.2359G>T (p.Val787Phe)
c.1441G>T (p.Val481Phe)
n.2992G>T
 dbSNP
13g.51949754C=CA2091541488ATP7Bc.*606G= (n.*606G=)
c.*1517G= (n.*1517G=)
c.2244+253G= (n.2244+253G=)
c.2773G= (p.Val925=)
c.2440G= (p.Val814=)
c.2521G= (p.Val841=)
c.2539G= (p.Val847=)
c.1800+253G= (n.1800+253G=)
c.1483G= (p.Val495=)
c.734G=
n.3571G=
n.2118G=
c.2629G= (p.Val877=)
n.212-3276G=
c.2677G= (p.Val893=)
c.2737G= (p.Val913=)
c.2287G= (p.Val763=)
c.589G= (p.Val197=)
c.2730+253G= (n.2730+253G=)
c.2359G= (p.Val787=)
c.1441G= (p.Val481=)
n.2992G=
13g.51949754C>GCA388033759ATP7Bc.*606G>C (n.*606G>C)
c.*1517G>C (n.*1517G>C)
c.2244+253G>C (n.2244+253G>C)
c.2773G>C (p.Val925Leu)
c.2440G>C (p.Val814Leu)
c.2521G>C (p.Val841Leu)
c.2539G>C (p.Val847Leu)
c.1800+253G>C (n.1800+253G>C)
c.1483G>C (p.Val495Leu)
c.734G>C
n.3571G>C
n.2118G>C
c.2629G>C (p.Val877Leu)
n.212-3276G>C
c.2677G>C (p.Val893Leu)
c.2737G>C (p.Val913Leu)
c.2287G>C (p.Val763Leu)
c.589G>C (p.Val197Leu)
c.2730+253G>C (n.2730+253G>C)
c.2359G>C (p.Val787Leu)
c.1441G>C (p.Val481Leu)
n.2992G>C
 dbSNP
13g.51949754C>TCA388033761ATP7Bc.*606G>A (n.*606G>A)
c.*1517G>A (n.*1517G>A)
c.2244+253G>A (n.2244+253G>A)
c.2773G>A (p.Val925Ile)
c.2440G>A (p.Val814Ile)
c.2521G>A (p.Val841Ile)
c.2539G>A (p.Val847Ile)
c.1800+253G>A (n.1800+253G>A)
c.1483G>A (p.Val495Ile)
c.734G>A
n.3571G>A
n.2118G>A
c.2629G>A (p.Val877Ile)
n.212-3276G>A
c.2677G>A (p.Val893Ile)
c.2737G>A (p.Val913Ile)
c.2287G>A (p.Val763Ile)
c.589G>A (p.Val197Ile)
c.2730+253G>A (n.2730+253G>A)
c.2359G>A (p.Val787Ile)
c.1441G>A (p.Val481Ile)
n.2992G>A
 dbSNP
13g.51949756_51949764delCA2091541486ATP7Bc.*598_*606del (n.*598_*606del)
c.*1509_*1517del (n.*1509_*1517del)
c.2244+245_2244+253del (n.2244+245_2244+253del)
c.2765_2773del (p.Gly922_Phe924del)
c.2432_2440del (p.Gly811_Phe813del)
c.2513_2521del (p.Gly838_Phe840del)
c.2531_2539del (p.Gly844_Phe846del)
c.1800+245_1800+253del (n.1800+245_1800+253del)
c.1475_1483del (p.Gly492_Phe494del)
c.726_734del
n.3563_3571del
n.2110_2118del
c.2621_2629del (p.Gly874_Phe876del)
n.212-3284_212-3276del
c.2669_2677del (p.Gly890_Phe892del)
c.2729_2737del (p.Gly910_Phe912del)
c.2279_2287del (p.Gly760_Phe762del)
c.581_589del (p.Gly194_Phe196del)
c.2730+245_2730+253del (n.2730+245_2730+253del)
c.2351_2359del (p.Gly784_Phe786del)
c.1433_1441del (p.Gly478_Phe480del)
n.2984_2992del
 dbSNP
13g.51949755A>CCA388033766ATP7Bc.*605T>G (n.*605T>G)
c.*1516T>G (n.*1516T>G)
c.2244+252T>G (n.2244+252T>G)
c.2772T>G (p.Phe924Leu)
c.2439T>G (p.Phe813Leu)
c.2520T>G (p.Phe840Leu)
c.2538T>G (p.Phe846Leu)
c.1800+252T>G (n.1800+252T>G)
c.1482T>G (p.Phe494Leu)
c.733T>G
n.3570T>G
n.2117T>G
c.2628T>G (p.Phe876Leu)
n.212-3277T>G
c.2676T>G (p.Phe892Leu)
c.2736T>G (p.Phe912Leu)
c.2286T>G (p.Phe762Leu)
c.588T>G (p.Phe196Leu)
c.2730+252T>G (n.2730+252T>G)
c.2358T>G (p.Phe786Leu)
c.1440T>G (p.Phe480Leu)
n.2991T>G
13g.51949755A>GCA484024517ATP7Bc.*605T>C (n.*605T>C)
c.*1516T>C (n.*1516T>C)
c.2244+252T>C (n.2244+252T>C)
c.2772T>C (p.Phe924=)
c.2439T>C (p.Phe813=)
c.2520T>C (p.Phe840=)
c.2538T>C (p.Phe846=)
c.1800+252T>C (n.1800+252T>C)
c.1482T>C (p.Phe494=)
c.733T>C
n.3570T>C
n.2117T>C
c.2628T>C (p.Phe876=)
n.212-3277T>C
c.2676T>C (p.Phe892=)
c.2736T>C (p.Phe912=)
c.2286T>C (p.Phe762=)
c.588T>C (p.Phe196=)
c.2730+252T>C (n.2730+252T>C)
c.2358T>C (p.Phe786=)
c.1440T>C (p.Phe480=)
n.2991T>C
 ClinVar dbSNP gnomAD v4
13g.51949755A>TCA388033767ATP7Bc.*605T>A (n.*605T>A)
c.*1516T>A (n.*1516T>A)
c.2244+252T>A (n.2244+252T>A)
c.2772T>A (p.Phe924Leu)
c.2439T>A (p.Phe813Leu)
c.2520T>A (p.Phe840Leu)
c.2538T>A (p.Phe846Leu)
c.1800+252T>A (n.1800+252T>A)
c.1482T>A (p.Phe494Leu)
c.733T>A
n.3570T>A
n.2117T>A
c.2628T>A (p.Phe876Leu)
n.212-3277T>A
c.2676T>A (p.Phe892Leu)
c.2736T>A (p.Phe912Leu)
c.2286T>A (p.Phe762Leu)
c.588T>A (p.Phe196Leu)
c.2730+252T>A (n.2730+252T>A)
c.2358T>A (p.Phe786Leu)
c.1440T>A (p.Phe480Leu)
n.2991T>A
13g.51949756A>CCA388033771ATP7Bc.*604T>G (n.*604T>G)
c.*1515T>G (n.*1515T>G)
c.2244+251T>G (n.2244+251T>G)
c.2771T>G (p.Phe924Cys)
c.2438T>G (p.Phe813Cys)
c.2519T>G (p.Phe840Cys)
c.2537T>G (p.Phe846Cys)
c.1800+251T>G (n.1800+251T>G)
c.1481T>G (p.Phe494Cys)
c.732T>G
n.3569T>G
n.2116T>G
c.2627T>G (p.Phe876Cys)
n.212-3278T>G
c.2675T>G (p.Phe892Cys)
c.2735T>G (p.Phe912Cys)
c.2285T>G (p.Phe762Cys)
c.587T>G (p.Phe196Cys)
c.2730+251T>G (n.2730+251T>G)
c.2357T>G (p.Phe786Cys)
c.1439T>G (p.Phe480Cys)
n.2990T>G
13g.51949756A>GCA388033772ATP7Bc.*604T>C (n.*604T>C)
c.*1515T>C (n.*1515T>C)
c.2244+251T>C (n.2244+251T>C)
c.2771T>C (p.Phe924Ser)
c.2438T>C (p.Phe813Ser)
c.2519T>C (p.Phe840Ser)
c.2537T>C (p.Phe846Ser)
c.1800+251T>C (n.1800+251T>C)
c.1481T>C (p.Phe494Ser)
c.732T>C
n.3569T>C
n.2116T>C
c.2627T>C (p.Phe876Ser)
n.212-3278T>C
c.2675T>C (p.Phe892Ser)
c.2735T>C (p.Phe912Ser)
c.2285T>C (p.Phe762Ser)
c.587T>C (p.Phe196Ser)
c.2730+251T>C (n.2730+251T>C)
c.2357T>C (p.Phe786Ser)
c.1439T>C (p.Phe480Ser)
n.2990T>C
13g.51949756A>TCA388033777ATP7Bc.*604T>A (n.*604T>A)
c.*1515T>A (n.*1515T>A)
c.2244+251T>A (n.2244+251T>A)
c.2771T>A (p.Phe924Tyr)
c.2438T>A (p.Phe813Tyr)
c.2519T>A (p.Phe840Tyr)
c.2537T>A (p.Phe846Tyr)
c.1800+251T>A (n.1800+251T>A)
c.1481T>A (p.Phe494Tyr)
c.732T>A
n.3569T>A
n.2116T>A
c.2627T>A (p.Phe876Tyr)
n.212-3278T>A
c.2675T>A (p.Phe892Tyr)
c.2735T>A (p.Phe912Tyr)
c.2285T>A (p.Phe762Tyr)
c.587T>A (p.Phe196Tyr)
c.2730+251T>A (n.2730+251T>A)
c.2357T>A (p.Phe786Tyr)
c.1439T>A (p.Phe480Tyr)
n.2990T>A
13g.51949757A>CCA388033780ATP7Bc.*603T>G (n.*603T>G)
c.*1514T>G (n.*1514T>G)
c.2244+250T>G (n.2244+250T>G)
c.2770T>G (p.Phe924Val)
c.2437T>G (p.Phe813Val)
c.2518T>G (p.Phe840Val)
c.2536T>G (p.Phe846Val)
c.1800+250T>G (n.1800+250T>G)
c.1480T>G (p.Phe494Val)
c.731T>G
n.3568T>G
n.2115T>G
c.2626T>G (p.Phe876Val)
n.212-3279T>G
c.2674T>G (p.Phe892Val)
c.2734T>G (p.Phe912Val)
c.2284T>G (p.Phe762Val)
c.586T>G (p.Phe196Val)
c.2730+250T>G (n.2730+250T>G)
c.2356T>G (p.Phe786Val)
c.1438T>G (p.Phe480Val)
n.2989T>G
13g.51949757A>GCA388033784ATP7Bc.*603T>C (n.*603T>C)
c.*1514T>C (n.*1514T>C)
c.2244+250T>C (n.2244+250T>C)
c.2770T>C (p.Phe924Leu)
c.2437T>C (p.Phe813Leu)
c.2518T>C (p.Phe840Leu)
c.2536T>C (p.Phe846Leu)
c.1800+250T>C (n.1800+250T>C)
c.1480T>C (p.Phe494Leu)
c.731T>C
n.3568T>C
n.2115T>C
c.2626T>C (p.Phe876Leu)
n.212-3279T>C
c.2674T>C (p.Phe892Leu)
c.2734T>C (p.Phe912Leu)
c.2284T>C (p.Phe762Leu)
c.586T>C (p.Phe196Leu)
c.2730+250T>C (n.2730+250T>C)
c.2356T>C (p.Phe786Leu)
c.1438T>C (p.Phe480Leu)
n.2989T>C
13g.51949757A>TCA388033782ATP7Bc.*603T>A (n.*603T>A)
c.*1514T>A (n.*1514T>A)
c.2244+250T>A (n.2244+250T>A)
c.2770T>A (p.Phe924Ile)
c.2437T>A (p.Phe813Ile)
c.2518T>A (p.Phe840Ile)
c.2536T>A (p.Phe846Ile)
c.1800+250T>A (n.1800+250T>A)
c.1480T>A (p.Phe494Ile)
c.731T>A
n.3568T>A
n.2115T>A
c.2626T>A (p.Phe876Ile)
n.212-3279T>A
c.2674T>A (p.Phe892Ile)
c.2734T>A (p.Phe912Ile)
c.2284T>A (p.Phe762Ile)
c.586T>A (p.Phe196Ile)
c.2730+250T>A (n.2730+250T>A)
c.2356T>A (p.Phe786Ile)
c.1438T>A (p.Phe480Ile)
n.2989T>A
13g.51949758A>CCA388033787ATP7Bc.*602T>G (n.*602T>G)
c.*1513T>G (n.*1513T>G)
c.2244+249T>G (n.2244+249T>G)
c.2769T>G (p.Tyr923Ter)
c.2436T>G (p.Tyr812Ter)
c.2517T>G (p.Tyr839Ter)
c.2535T>G (p.Tyr845Ter)
c.1800+249T>G (n.1800+249T>G)
c.1479T>G (p.Tyr493Ter)
c.730T>G
n.3567T>G
n.2114T>G
c.2625T>G (p.Tyr875Ter)
n.212-3280T>G
c.2673T>G (p.Tyr891Ter)
c.2733T>G (p.Tyr911Ter)
c.2283T>G (p.Tyr761Ter)
c.585T>G (p.Tyr195Ter)
c.2730+249T>G (n.2730+249T>G)
c.2355T>G (p.Tyr785Ter)
c.1437T>G (p.Tyr479Ter)
n.2988T>G
13g.51949758A>GCA484024518ATP7Bc.*602T>C (n.*602T>C)
c.*1513T>C (n.*1513T>C)
c.2244+249T>C (n.2244+249T>C)
c.2769T>C (p.Tyr923=)
c.2436T>C (p.Tyr812=)
c.2517T>C (p.Tyr839=)
c.2535T>C (p.Tyr845=)
c.1800+249T>C (n.1800+249T>C)
c.1479T>C (p.Tyr493=)
c.730T>C
n.3567T>C
n.2114T>C
c.2625T>C (p.Tyr875=)
n.212-3280T>C
c.2673T>C (p.Tyr891=)
c.2733T>C (p.Tyr911=)
c.2283T>C (p.Tyr761=)
c.585T>C (p.Tyr195=)
c.2730+249T>C (n.2730+249T>C)
c.2355T>C (p.Tyr785=)
c.1437T>C (p.Tyr479=)
n.2988T>C
13g.51949758A>TCA388033790ATP7Bc.*602T>A (n.*602T>A)
c.*1513T>A (n.*1513T>A)
c.2244+249T>A (n.2244+249T>A)
c.2769T>A (p.Tyr923Ter)
c.2436T>A (p.Tyr812Ter)
c.2517T>A (p.Tyr839Ter)
c.2535T>A (p.Tyr845Ter)
c.1800+249T>A (n.1800+249T>A)
c.1479T>A (p.Tyr493Ter)
c.730T>A
n.3567T>A
n.2114T>A
c.2625T>A (p.Tyr875Ter)
n.212-3280T>A
c.2673T>A (p.Tyr891Ter)
c.2733T>A (p.Tyr911Ter)
c.2283T>A (p.Tyr761Ter)
c.585T>A (p.Tyr195Ter)
c.2730+249T>A (n.2730+249T>A)
c.2355T>A (p.Tyr785Ter)
c.1437T>A (p.Tyr479Ter)
n.2988T>A
13g.51949759T>ACA388033792ATP7Bc.*601A>T (n.*601A>T)
c.*1512A>T (n.*1512A>T)
c.2244+248A>T (n.2244+248A>T)
c.2768A>T (p.Tyr923Phe)
c.2435A>T (p.Tyr812Phe)
c.2516A>T (p.Tyr839Phe)
c.2534A>T (p.Tyr845Phe)
c.1800+248A>T (n.1800+248A>T)
c.1478A>T (p.Tyr493Phe)
c.729A>T
n.3566A>T
n.2113A>T
c.2624A>T (p.Tyr875Phe)
n.212-3281A>T
c.2672A>T (p.Tyr891Phe)
c.2732A>T (p.Tyr911Phe)
c.2282A>T (p.Tyr761Phe)
c.584A>T (p.Tyr195Phe)
c.2730+248A>T (n.2730+248A>T)
c.2354A>T (p.Tyr785Phe)
c.1436A>T (p.Tyr479Phe)
n.2987A>T
13g.51949759T>CCA388033794ATP7Bc.*601A>G (n.*601A>G)
c.*1512A>G (n.*1512A>G)
c.2244+248A>G (n.2244+248A>G)
c.2768A>G (p.Tyr923Cys)
c.2435A>G (p.Tyr812Cys)
c.2516A>G (p.Tyr839Cys)
c.2534A>G (p.Tyr845Cys)
c.1800+248A>G (n.1800+248A>G)
c.1478A>G (p.Tyr493Cys)
c.729A>G
n.3566A>G
n.2113A>G
c.2624A>G (p.Tyr875Cys)
n.212-3281A>G
c.2672A>G (p.Tyr891Cys)
c.2732A>G (p.Tyr911Cys)
c.2282A>G (p.Tyr761Cys)
c.584A>G (p.Tyr195Cys)
c.2730+248A>G (n.2730+248A>G)
c.2354A>G (p.Tyr785Cys)
c.1436A>G (p.Tyr479Cys)
n.2987A>G
 ClinVar gnomAD v4
13g.51949759T>GCA388033798ATP7Bc.*601A>C (n.*601A>C)
c.*1512A>C (n.*1512A>C)
c.2244+248A>C (n.2244+248A>C)
c.2768A>C (p.Tyr923Ser)
c.2435A>C (p.Tyr812Ser)
c.2516A>C (p.Tyr839Ser)
c.2534A>C (p.Tyr845Ser)
c.1800+248A>C (n.1800+248A>C)
c.1478A>C (p.Tyr493Ser)
c.729A>C
n.3566A>C
n.2113A>C
c.2624A>C (p.Tyr875Ser)
n.212-3281A>C
c.2672A>C (p.Tyr891Ser)
c.2732A>C (p.Tyr911Ser)
c.2282A>C (p.Tyr761Ser)
c.584A>C (p.Tyr195Ser)
c.2730+248A>C (n.2730+248A>C)
c.2354A>C (p.Tyr785Ser)
c.1436A>C (p.Tyr479Ser)
n.2987A>C
13g.51949759dupCA2623118064ATP7Bc.*601dup (n.*601dup)
c.*1512dup (n.*1512dup)
c.2244+248dup (n.2244+248dup)
c.2768dup (p.Tyr923Ter)
c.2435dup (p.Tyr812Ter)
c.2516dup (p.Tyr839Ter)
c.2534dup (p.Tyr845Ter)
c.1800+248dup (n.1800+248dup)
c.1478dup (p.Tyr493Ter)
c.729dup
n.3566dup
n.2113dup
c.2624dup (p.Tyr875Ter)
n.212-3281dup
c.2672dup (p.Tyr891Ter)
c.2732dup (p.Tyr911Ter)
c.2282dup (p.Tyr761Ter)
c.584dup (p.Tyr195Ter)
c.2730+248dup (n.2730+248dup)
c.2354dup (p.Tyr785Ter)
c.1436dup (p.Tyr479Ter)
n.2987dup
 gnomAD v4
13g.51949760A>CCA388033800ATP7Bc.*600T>G (n.*600T>G)
c.*1511T>G (n.*1511T>G)
c.2244+247T>G (n.2244+247T>G)
c.2767T>G (p.Tyr923Asp)
c.2434T>G (p.Tyr812Asp)
c.2515T>G (p.Tyr839Asp)
c.2533T>G (p.Tyr845Asp)
c.1800+247T>G (n.1800+247T>G)
c.1477T>G (p.Tyr493Asp)
c.728T>G
n.3565T>G
n.2112T>G
c.2623T>G (p.Tyr875Asp)
n.212-3282T>G
c.2671T>G (p.Tyr891Asp)
c.2731T>G (p.Tyr911Asp)
c.2281T>G (p.Tyr761Asp)
c.583T>G (p.Tyr195Asp)
c.2730+247T>G (n.2730+247T>G)
c.2353T>G (p.Tyr785Asp)
c.1435T>G (p.Tyr479Asp)
n.2986T>G
13g.51949760A>GCA388033802ATP7Bc.*600T>C (n.*600T>C)
c.*1511T>C (n.*1511T>C)
c.2244+247T>C (n.2244+247T>C)
c.2767T>C (p.Tyr923His)
c.2434T>C (p.Tyr812His)
c.2515T>C (p.Tyr839His)
c.2533T>C (p.Tyr845His)
c.1800+247T>C (n.1800+247T>C)
c.1477T>C (p.Tyr493His)
c.728T>C
n.3565T>C
n.2112T>C
c.2623T>C (p.Tyr875His)
n.212-3282T>C
c.2671T>C (p.Tyr891His)
c.2731T>C (p.Tyr911His)
c.2281T>C (p.Tyr761His)
c.583T>C (p.Tyr195His)
c.2730+247T>C (n.2730+247T>C)
c.2353T>C (p.Tyr785His)
c.1435T>C (p.Tyr479His)
n.2986T>C
13g.51949760A>TCA388033804ATP7Bc.*600T>A (n.*600T>A)
c.*1511T>A (n.*1511T>A)
c.2244+247T>A (n.2244+247T>A)
c.2767T>A (p.Tyr923Asn)
c.2434T>A (p.Tyr812Asn)
c.2515T>A (p.Tyr839Asn)
c.2533T>A (p.Tyr845Asn)
c.1800+247T>A (n.1800+247T>A)
c.1477T>A (p.Tyr493Asn)
c.728T>A
n.3565T>A
n.2112T>A
c.2623T>A (p.Tyr875Asn)
n.212-3282T>A
c.2671T>A (p.Tyr891Asn)
c.2731T>A (p.Tyr911Asn)
c.2281T>A (p.Tyr761Asn)
c.583T>A (p.Tyr195Asn)
c.2730+247T>A (n.2730+247T>A)
c.2353T>A (p.Tyr785Asn)
c.1435T>A (p.Tyr479Asn)
n.2986T>A
13g.51949761T>ACA484024519ATP7Bc.*599A>T (n.*599A>T)
c.*1510A>T (n.*1510A>T)
c.2244+246A>T (n.2244+246A>T)
c.2766A>T (p.Gly922=)
c.2433A>T (p.Gly811=)
c.2514A>T (p.Gly838=)
c.2532A>T (p.Gly844=)
c.1800+246A>T (n.1800+246A>T)
c.1476A>T (p.Gly492=)
c.727A>T
n.3564A>T
n.2111A>T
c.2622A>T (p.Gly874=)
n.212-3283A>T
c.2670A>T (p.Gly890=)
c.2730A>T (p.Gly910=)
c.2280A>T (p.Gly760=)
c.582A>T (p.Gly194=)
c.2730+246A>T (n.2730+246A>T)
c.2352A>T (p.Gly784=)
c.1434A>T (p.Gly478=)
n.2985A>T
 gnomAD v4
13g.51949761T>CCA484024520ATP7Bc.*599A>G (n.*599A>G)
c.*1510A>G (n.*1510A>G)
c.2244+246A>G (n.2244+246A>G)
c.2766A>G (p.Gly922=)
c.2433A>G (p.Gly811=)
c.2514A>G (p.Gly838=)
c.2532A>G (p.Gly844=)
c.1800+246A>G (n.1800+246A>G)
c.1476A>G (p.Gly492=)
c.727A>G
n.3564A>G
n.2111A>G
c.2622A>G (p.Gly874=)
n.212-3283A>G
c.2670A>G (p.Gly890=)
c.2730A>G (p.Gly910=)
c.2280A>G (p.Gly760=)
c.582A>G (p.Gly194=)
c.2730+246A>G (n.2730+246A>G)
c.2352A>G (p.Gly784=)
c.1434A>G (p.Gly478=)
n.2985A>G
 ClinVar
13g.51949761T>GCA484024521ATP7Bc.*599A>C (n.*599A>C)
c.*1510A>C (n.*1510A>C)
c.2244+246A>C (n.2244+246A>C)
c.2766A>C (p.Gly922=)
c.2433A>C (p.Gly811=)
c.2514A>C (p.Gly838=)
c.2532A>C (p.Gly844=)
c.1800+246A>C (n.1800+246A>C)
c.1476A>C (p.Gly492=)
c.727A>C
n.3564A>C
n.2111A>C
c.2622A>C (p.Gly874=)
n.212-3283A>C
c.2670A>C (p.Gly890=)
c.2730A>C (p.Gly910=)
c.2280A>C (p.Gly760=)
c.582A>C (p.Gly194=)
c.2730+246A>C (n.2730+246A>C)
c.2352A>C (p.Gly784=)
c.1434A>C (p.Gly478=)
n.2985A>C
 gnomAD v4
13g.51949762C>ACA6988912ATP7Bc.*598G>T (n.*598G>T)
c.*1509G>T (n.*1509G>T)
c.2244+245G>T (n.2244+245G>T)
c.2765G>T (p.Gly922Val)
c.2432G>T (p.Gly811Val)
c.2513G>T (p.Gly838Val)
c.2531G>T (p.Gly844Val)
c.1800+245G>T (n.1800+245G>T)
c.1475G>T (p.Gly492Val)
c.726G>T
n.3563G>T
n.2110G>T
c.2621G>T (p.Gly874Val)
n.212-3284G>T
c.2669G>T (p.Gly890Val)
c.2729G>T (p.Gly910Val)
c.2279G>T (p.Gly760Val)
c.581G>T (p.Gly194Val)
c.2730+245G>T (n.2730+245G>T)
c.2351G>T (p.Gly784Val)
c.1433G>T (p.Gly478Val)
n.2984G>T
 dbSNP ExAC gnomAD v2
13g.51949762C=CA2091541490ATP7Bc.*598G= (n.*598G=)
c.*1509G= (n.*1509G=)
c.2244+245G= (n.2244+245G=)
c.2765G= (p.Gly922=)
c.2432G= (p.Gly811=)
c.2513G= (p.Gly838=)
c.2531G= (p.Gly844=)
c.1800+245G= (n.1800+245G=)
c.1475G= (p.Gly492=)
c.726G=
n.3563G=
n.2110G=
c.2621G= (p.Gly874=)
n.212-3284G=
c.2669G= (p.Gly890=)
c.2729G= (p.Gly910=)
c.2279G= (p.Gly760=)
c.581G= (p.Gly194=)
c.2730+245G= (n.2730+245G=)
c.2351G= (p.Gly784=)
c.1433G= (p.Gly478=)
n.2984G=
13g.51949762C>GCA388033808ATP7Bc.*598G>C (n.*598G>C)
c.*1509G>C (n.*1509G>C)
c.2244+245G>C (n.2244+245G>C)
c.2765G>C (p.Gly922Ala)
c.2432G>C (p.Gly811Ala)
c.2513G>C (p.Gly838Ala)
c.2531G>C (p.Gly844Ala)
c.1800+245G>C (n.1800+245G>C)
c.1475G>C (p.Gly492Ala)
c.726G>C
n.3563G>C
n.2110G>C
c.2621G>C (p.Gly874Ala)
n.212-3284G>C
c.2669G>C (p.Gly890Ala)
c.2729G>C (p.Gly910Ala)
c.2279G>C (p.Gly760Ala)
c.581G>C (p.Gly194Ala)
c.2730+245G>C (n.2730+245G>C)
c.2351G>C (p.Gly784Ala)
c.1433G>C (p.Gly478Ala)
n.2984G>C
13g.51949762C>TCA388033811ATP7Bc.*598G>A (n.*598G>A)
c.*1509G>A (n.*1509G>A)
c.2244+245G>A (n.2244+245G>A)
c.2765G>A (p.Gly922Glu)
c.2432G>A (p.Gly811Glu)
c.2513G>A (p.Gly838Glu)
c.2531G>A (p.Gly844Glu)
c.1800+245G>A (n.1800+245G>A)
c.1475G>A (p.Gly492Glu)
c.726G>A
n.3563G>A
n.2110G>A
c.2621G>A (p.Gly874Glu)
n.212-3284G>A
c.2669G>A (p.Gly890Glu)
c.2729G>A (p.Gly910Glu)
c.2279G>A (p.Gly760Glu)
c.581G>A (p.Gly194Glu)
c.2730+245G>A (n.2730+245G>A)
c.2351G>A (p.Gly784Glu)
c.1433G>A (p.Gly478Glu)
n.2984G>A
 gnomAD v4
13g.51949763C>ACA388033813ATP7Bc.*597G>T (n.*597G>T)
c.*1508G>T (n.*1508G>T)
c.2244+244G>T (n.2244+244G>T)
c.2764G>T (p.Gly922Ter)
c.2431G>T (p.Gly811Ter)
c.2512G>T (p.Gly838Ter)
c.2530G>T (p.Gly844Ter)
c.1800+244G>T (n.1800+244G>T)
c.1474G>T (p.Gly492Ter)
c.725G>T
n.3562G>T
n.2109G>T
c.2620G>T (p.Gly874Ter)
n.212-3285G>T
c.2668G>T (p.Gly890Ter)
c.2728G>T (p.Gly910Ter)
c.2278G>T (p.Gly760Ter)
c.580G>T (p.Gly194Ter)
c.2730+244G>T (n.2730+244G>T)
c.2350G>T (p.Gly784Ter)
c.1432G>T (p.Gly478Ter)
n.2983G>T
13g.51949763C=CA2091541493ATP7Bc.*597G= (n.*597G=)
c.*1508G= (n.*1508G=)
c.2244+244G= (n.2244+244G=)
c.2764G= (p.Gly922=)
c.2431G= (p.Gly811=)
c.2512G= (p.Gly838=)
c.2530G= (p.Gly844=)
c.1800+244G= (n.1800+244G=)
c.1474G= (p.Gly492=)
c.725G=
n.3562G=
n.2109G=
c.2620G= (p.Gly874=)
n.212-3285G=
c.2668G= (p.Gly890=)
c.2728G= (p.Gly910=)
c.2278G= (p.Gly760=)
c.580G= (p.Gly194=)
c.2730+244G= (n.2730+244G=)
c.2350G= (p.Gly784=)
c.1432G= (p.Gly478=)
n.2983G=
13g.51949763C>GCA388033816ATP7Bc.*597G>C (n.*597G>C)
c.*1508G>C (n.*1508G>C)
c.2244+244G>C (n.2244+244G>C)
c.2764G>C (p.Gly922Arg)
c.2431G>C (p.Gly811Arg)
c.2512G>C (p.Gly838Arg)
c.2530G>C (p.Gly844Arg)
c.1800+244G>C (n.1800+244G>C)
c.1474G>C (p.Gly492Arg)
c.725G>C
n.3562G>C
n.2109G>C
c.2620G>C (p.Gly874Arg)
n.212-3285G>C
c.2668G>C (p.Gly890Arg)
c.2728G>C (p.Gly910Arg)
c.2278G>C (p.Gly760Arg)
c.580G>C (p.Gly194Arg)
c.2730+244G>C (n.2730+244G>C)
c.2350G>C (p.Gly784Arg)
c.1432G>C (p.Gly478Arg)
n.2983G>C
13g.51949763C>TCA388033815ATP7Bc.*597G>A (n.*597G>A)
c.*1508G>A (n.*1508G>A)
c.2244+244G>A (n.2244+244G>A)
c.2764G>A (p.Gly922Arg)
c.2431G>A (p.Gly811Arg)
c.2512G>A (p.Gly838Arg)
c.2530G>A (p.Gly844Arg)
c.1800+244G>A (n.1800+244G>A)
c.1474G>A (p.Gly492Arg)
c.725G>A
n.3562G>A
n.2109G>A
c.2620G>A (p.Gly874Arg)
n.212-3285G>A
c.2668G>A (p.Gly890Arg)
c.2728G>A (p.Gly910Arg)
c.2278G>A (p.Gly760Arg)
c.580G>A (p.Gly194Arg)
c.2730+244G>A (n.2730+244G>A)
c.2350G>A (p.Gly784Arg)
c.1432G>A (p.Gly478Arg)
n.2983G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51949764A=CA2091541496ATP7Bc.*596T= (n.*596T=)
c.*1507T= (n.*1507T=)
c.2244+243T= (n.2244+243T=)
c.2763T= (p.Ser921=)
c.2430T= (p.Ser810=)
c.2511T= (p.Ser837=)
c.2529T= (p.Ser843=)
c.1800+243T= (n.1800+243T=)
c.1473T= (p.Ser491=)
c.724T=
n.3561T=
n.2108T=
c.2619T= (p.Ser873=)
n.212-3286T=
c.2667T= (p.Ser889=)
c.2727T= (p.Ser909=)
c.2277T= (p.Ser759=)
c.579T= (p.Ser193=)
c.2730+243T= (n.2730+243T=)
c.2349T= (p.Ser783=)
c.1431T= (p.Ser477=)
n.2982T=
13g.51949764A>CCA388033818ATP7Bc.*596T>G (n.*596T>G)
c.*1507T>G (n.*1507T>G)
c.2244+243T>G (n.2244+243T>G)
c.2763T>G (p.Ser921Arg)
c.2430T>G (p.Ser810Arg)
c.2511T>G (p.Ser837Arg)
c.2529T>G (p.Ser843Arg)
c.1800+243T>G (n.1800+243T>G)
c.1473T>G (p.Ser491Arg)
c.724T>G
n.3561T>G
n.2108T>G
c.2619T>G (p.Ser873Arg)
n.212-3286T>G
c.2667T>G (p.Ser889Arg)
c.2727T>G (p.Ser909Arg)
c.2277T>G (p.Ser759Arg)
c.579T>G (p.Ser193Arg)
c.2730+243T>G (n.2730+243T>G)
c.2349T>G (p.Ser783Arg)
c.1431T>G (p.Ser477Arg)
n.2982T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51949764A>GCA250084891ATP7Bc.*596T>C (n.*596T>C)
c.*1507T>C (n.*1507T>C)
c.2244+243T>C (n.2244+243T>C)
c.2763T>C (p.Ser921=)
c.2430T>C (p.Ser810=)
c.2511T>C (p.Ser837=)
c.2529T>C (p.Ser843=)
c.1800+243T>C (n.1800+243T>C)
c.1473T>C (p.Ser491=)
c.724T>C
n.3561T>C
n.2108T>C
c.2619T>C (p.Ser873=)
n.212-3286T>C
c.2667T>C (p.Ser889=)
c.2727T>C (p.Ser909=)
c.2277T>C (p.Ser759=)
c.579T>C (p.Ser193=)
c.2730+243T>C (n.2730+243T>C)
c.2349T>C (p.Ser783=)
c.1431T>C (p.Ser477=)
n.2982T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949764A>TCA250084899ATP7Bc.*596T>A (n.*596T>A)
c.*1507T>A (n.*1507T>A)
c.2244+243T>A (n.2244+243T>A)
c.2763T>A (p.Ser921Arg)
c.2430T>A (p.Ser810Arg)
c.2511T>A (p.Ser837Arg)
c.2529T>A (p.Ser843Arg)
c.1800+243T>A (n.1800+243T>A)
c.1473T>A (p.Ser491Arg)
c.724T>A
n.3561T>A
n.2108T>A
c.2619T>A (p.Ser873Arg)
n.212-3286T>A
c.2667T>A (p.Ser889Arg)
c.2727T>A (p.Ser909Arg)
c.2277T>A (p.Ser759Arg)
c.579T>A (p.Ser193Arg)
c.2730+243T>A (n.2730+243T>A)
c.2349T>A (p.Ser783Arg)
c.1431T>A (p.Ser477Arg)
n.2982T>A
 ClinVar dbSNP gnomAD v4
13g.51949765C>ACA388033823ATP7Bc.*595G>T (n.*595G>T)
c.*1506G>T (n.*1506G>T)
c.2244+242G>T (n.2244+242G>T)
c.2762G>T (p.Ser921Ile)
c.2429G>T (p.Ser810Ile)
c.2510G>T (p.Ser837Ile)
c.2528G>T (p.Ser843Ile)
c.1800+242G>T (n.1800+242G>T)
c.1472G>T (p.Ser491Ile)
c.723G>T
n.3560G>T
n.2107G>T
c.2618G>T (p.Ser873Ile)
n.212-3287G>T
c.2666G>T (p.Ser889Ile)
c.2726G>T (p.Ser909Ile)
c.2276G>T (p.Ser759Ile)
c.578G>T (p.Ser193Ile)
c.2730+242G>T (n.2730+242G>T)
c.2348G>T (p.Ser783Ile)
c.1430G>T (p.Ser477Ile)
n.2981G>T
 ClinVar
13g.51949765C=CA2091541504ATP7Bc.*595G= (n.*595G=)
c.*1506G= (n.*1506G=)
c.2244+242G= (n.2244+242G=)
c.2762G= (p.Ser921=)
c.2429G= (p.Ser810=)
c.2510G= (p.Ser837=)
c.2528G= (p.Ser843=)
c.1800+242G= (n.1800+242G=)
c.1472G= (p.Ser491=)
c.723G=
n.3560G=
n.2107G=
c.2618G= (p.Ser873=)
n.212-3287G=
c.2666G= (p.Ser889=)
c.2726G= (p.Ser909=)
c.2276G= (p.Ser759=)
c.578G= (p.Ser193=)
c.2730+242G= (n.2730+242G=)
c.2348G= (p.Ser783=)
c.1430G= (p.Ser477=)
n.2981G=
13g.51949765C>GCA388033826ATP7Bc.*595G>C (n.*595G>C)
c.*1506G>C (n.*1506G>C)
c.2244+242G>C (n.2244+242G>C)
c.2762G>C (p.Ser921Thr)
c.2429G>C (p.Ser810Thr)
c.2510G>C (p.Ser837Thr)
c.2528G>C (p.Ser843Thr)
c.1800+242G>C (n.1800+242G>C)
c.1472G>C (p.Ser491Thr)
c.723G>C
n.3560G>C
n.2107G>C
c.2618G>C (p.Ser873Thr)
n.212-3287G>C
c.2666G>C (p.Ser889Thr)
c.2726G>C (p.Ser909Thr)
c.2276G>C (p.Ser759Thr)
c.578G>C (p.Ser193Thr)
c.2730+242G>C (n.2730+242G>C)
c.2348G>C (p.Ser783Thr)
c.1430G>C (p.Ser477Thr)
n.2981G>C
13g.51949765C>TCA388033824ATP7Bc.*595G>A (n.*595G>A)
c.*1506G>A (n.*1506G>A)
c.2244+242G>A (n.2244+242G>A)
c.2762G>A (p.Ser921Asn)
c.2429G>A (p.Ser810Asn)
c.2510G>A (p.Ser837Asn)
c.2528G>A (p.Ser843Asn)
c.1800+242G>A (n.1800+242G>A)
c.1472G>A (p.Ser491Asn)
c.723G>A
n.3560G>A
n.2107G>A
c.2618G>A (p.Ser873Asn)
n.212-3287G>A
c.2666G>A (p.Ser889Asn)
c.2726G>A (p.Ser909Asn)
c.2276G>A (p.Ser759Asn)
c.578G>A (p.Ser193Asn)
c.2730+242G>A (n.2730+242G>A)
c.2348G>A (p.Ser783Asn)
c.1430G>A (p.Ser477Asn)
n.2981G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51949766T>ACA388033829ATP7Bc.*594A>T (n.*594A>T)
c.*1505A>T (n.*1505A>T)
c.2244+241A>T (n.2244+241A>T)
c.2761A>T (p.Ser921Cys)
c.2428A>T (p.Ser810Cys)
c.2509A>T (p.Ser837Cys)
c.2527A>T (p.Ser843Cys)
c.1800+241A>T (n.1800+241A>T)
c.1471A>T (p.Ser491Cys)
c.722A>T
n.3559A>T
n.2106A>T
c.2617A>T (p.Ser873Cys)
n.212-3288A>T
c.2665A>T (p.Ser889Cys)
c.2725A>T (p.Ser909Cys)
c.2275A>T (p.Ser759Cys)
c.577A>T (p.Ser193Cys)
c.2730+241A>T (n.2730+241A>T)
c.2347A>T (p.Ser783Cys)
c.1429A>T (p.Ser477Cys)
n.2980A>T
13g.51949766T>CCA388033831ATP7Bc.*594A>G (n.*594A>G)
c.*1505A>G (n.*1505A>G)
c.2244+241A>G (n.2244+241A>G)
c.2761A>G (p.Ser921Gly)
c.2428A>G (p.Ser810Gly)
c.2509A>G (p.Ser837Gly)
c.2527A>G (p.Ser843Gly)
c.1800+241A>G (n.1800+241A>G)
c.1471A>G (p.Ser491Gly)
c.722A>G
n.3559A>G
n.2106A>G
c.2617A>G (p.Ser873Gly)
n.212-3288A>G
c.2665A>G (p.Ser889Gly)
c.2725A>G (p.Ser909Gly)
c.2275A>G (p.Ser759Gly)
c.577A>G (p.Ser193Gly)
c.2730+241A>G (n.2730+241A>G)
c.2347A>G (p.Ser783Gly)
c.1429A>G (p.Ser477Gly)
n.2980A>G
13g.51949766T>GCA388033834ATP7Bc.*594A>C (n.*594A>C)
c.*1505A>C (n.*1505A>C)
c.2244+241A>C (n.2244+241A>C)
c.2761A>C (p.Ser921Arg)
c.2428A>C (p.Ser810Arg)
c.2509A>C (p.Ser837Arg)
c.2527A>C (p.Ser843Arg)
c.1800+241A>C (n.1800+241A>C)
c.1471A>C (p.Ser491Arg)
c.722A>C
n.3559A>C
n.2106A>C
c.2617A>C (p.Ser873Arg)
n.212-3288A>C
c.2665A>C (p.Ser889Arg)
c.2725A>C (p.Ser909Arg)
c.2275A>C (p.Ser759Arg)
c.577A>C (p.Ser193Arg)
c.2730+241A>C (n.2730+241A>C)
c.2347A>C (p.Ser783Arg)
c.1429A>C (p.Ser477Arg)
n.2980A>C
13g.51949767A=CA2091541506ATP7Bc.*593T= (n.*593T=)
c.*1504T= (n.*1504T=)
c.2244+240T= (n.2244+240T=)
c.2760T= (p.Phe920=)
c.2427T= (p.Phe809=)
c.2508T= (p.Phe836=)
c.2526T= (p.Phe842=)
c.1800+240T= (n.1800+240T=)
c.1470T= (p.Phe490=)
c.721T=
n.3558T=
n.2105T=
c.2616T= (p.Phe872=)
n.212-3289T=
c.2664T= (p.Phe888=)
c.2724T= (p.Phe908=)
c.2274T= (p.Phe758=)
c.576T= (p.Phe192=)
c.2730+240T= (n.2730+240T=)
c.2346T= (p.Phe782=)
c.1428T= (p.Phe476=)
n.2979T=
13g.51949767A>CCA388033837ATP7Bc.*593T>G (n.*593T>G)
c.*1504T>G (n.*1504T>G)
c.2244+240T>G (n.2244+240T>G)
c.2760T>G (p.Phe920Leu)
c.2427T>G (p.Phe809Leu)
c.2508T>G (p.Phe836Leu)
c.2526T>G (p.Phe842Leu)
c.1800+240T>G (n.1800+240T>G)
c.1470T>G (p.Phe490Leu)
c.721T>G
n.3558T>G
n.2105T>G
c.2616T>G (p.Phe872Leu)
n.212-3289T>G
c.2664T>G (p.Phe888Leu)
c.2724T>G (p.Phe908Leu)
c.2274T>G (p.Phe758Leu)
c.576T>G (p.Phe192Leu)
c.2730+240T>G (n.2730+240T>G)
c.2346T>G (p.Phe782Leu)
c.1428T>G (p.Phe476Leu)
n.2979T>G
13g.51949767A>GCA484024525ATP7Bc.*593T>C (n.*593T>C)
c.*1504T>C (n.*1504T>C)
c.2244+240T>C (n.2244+240T>C)
c.2760T>C (p.Phe920=)
c.2427T>C (p.Phe809=)
c.2508T>C (p.Phe836=)
c.2526T>C (p.Phe842=)
c.1800+240T>C (n.1800+240T>C)
c.1470T>C (p.Phe490=)
c.721T>C
n.3558T>C
n.2105T>C
c.2616T>C (p.Phe872=)
n.212-3289T>C
c.2664T>C (p.Phe888=)
c.2724T>C (p.Phe908=)
c.2274T>C (p.Phe758=)
c.576T>C (p.Phe192=)
c.2730+240T>C (n.2730+240T>C)
c.2346T>C (p.Phe782=)
c.1428T>C (p.Phe476=)
n.2979T>C
13g.51949767A>TCA388033839ATP7Bc.*593T>A (n.*593T>A)
c.*1504T>A (n.*1504T>A)
c.2244+240T>A (n.2244+240T>A)
c.2760T>A (p.Phe920Leu)
c.2427T>A (p.Phe809Leu)
c.2508T>A (p.Phe836Leu)
c.2526T>A (p.Phe842Leu)
c.1800+240T>A (n.1800+240T>A)
c.1470T>A (p.Phe490Leu)
c.721T>A
n.3558T>A
n.2105T>A
c.2616T>A (p.Phe872Leu)
n.212-3289T>A
c.2664T>A (p.Phe888Leu)
c.2724T>A (p.Phe908Leu)
c.2274T>A (p.Phe758Leu)
c.576T>A (p.Phe192Leu)
c.2730+240T>A (n.2730+240T>A)
c.2346T>A (p.Phe782Leu)
c.1428T>A (p.Phe476Leu)
n.2979T>A
 dbSNP gnomAD v3 gnomAD v4
13g.51949768A=CA2091541511ATP7Bc.*592T= (n.*592T=)
c.*1503T= (n.*1503T=)
c.2244+239T= (n.2244+239T=)
c.2759T= (p.Phe920=)
c.2426T= (p.Phe809=)
c.2507T= (p.Phe836=)
c.2525T= (p.Phe842=)
c.1800+239T= (n.1800+239T=)
c.1469T= (p.Phe490=)
c.720T=
n.3557T=
n.2104T=
c.2615T= (p.Phe872=)
n.212-3290T=
c.2663T= (p.Phe888=)
c.2723T= (p.Phe908=)
c.2273T= (p.Phe758=)
c.575T= (p.Phe192=)
c.2730+239T= (n.2730+239T=)
c.2345T= (p.Phe782=)
c.1427T= (p.Phe476=)
n.2978T=
13g.51949768A>CCA6988913ATP7Bc.*592T>G (n.*592T>G)
c.*1503T>G (n.*1503T>G)
c.2244+239T>G (n.2244+239T>G)
c.2759T>G (p.Phe920Cys)
c.2426T>G (p.Phe809Cys)
c.2507T>G (p.Phe836Cys)
c.2525T>G (p.Phe842Cys)
c.1800+239T>G (n.1800+239T>G)
c.1469T>G (p.Phe490Cys)
c.720T>G
n.3557T>G
n.2104T>G
c.2615T>G (p.Phe872Cys)
n.212-3290T>G
c.2663T>G (p.Phe888Cys)
c.2723T>G (p.Phe908Cys)
c.2273T>G (p.Phe758Cys)
c.575T>G (p.Phe192Cys)
c.2730+239T>G (n.2730+239T>G)
c.2345T>G (p.Phe782Cys)
c.1427T>G (p.Phe476Cys)
n.2978T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51949768A>GCA388033842ATP7Bc.*592T>C (n.*592T>C)
c.*1503T>C (n.*1503T>C)
c.2244+239T>C (n.2244+239T>C)
c.2759T>C (p.Phe920Ser)
c.2426T>C (p.Phe809Ser)
c.2507T>C (p.Phe836Ser)
c.2525T>C (p.Phe842Ser)
c.1800+239T>C (n.1800+239T>C)
c.1469T>C (p.Phe490Ser)
c.720T>C
n.3557T>C
n.2104T>C
c.2615T>C (p.Phe872Ser)
n.212-3290T>C
c.2663T>C (p.Phe888Ser)
c.2723T>C (p.Phe908Ser)
c.2273T>C (p.Phe758Ser)
c.575T>C (p.Phe192Ser)
c.2730+239T>C (n.2730+239T>C)
c.2345T>C (p.Phe782Ser)
c.1427T>C (p.Phe476Ser)
n.2978T>C
 gnomAD v4
13g.51949768A>TCA388033844ATP7Bc.*592T>A (n.*592T>A)
c.*1503T>A (n.*1503T>A)
c.2244+239T>A (n.2244+239T>A)
c.2759T>A (p.Phe920Tyr)
c.2426T>A (p.Phe809Tyr)
c.2507T>A (p.Phe836Tyr)
c.2525T>A (p.Phe842Tyr)
c.1800+239T>A (n.1800+239T>A)
c.1469T>A (p.Phe490Tyr)
c.720T>A
n.3557T>A
n.2104T>A
c.2615T>A (p.Phe872Tyr)
n.212-3290T>A
c.2663T>A (p.Phe888Tyr)
c.2723T>A (p.Phe908Tyr)
c.2273T>A (p.Phe758Tyr)
c.575T>A (p.Phe192Tyr)
c.2730+239T>A (n.2730+239T>A)
c.2345T>A (p.Phe782Tyr)
c.1427T>A (p.Phe476Tyr)
n.2978T>A
13g.51949769A>CCA388033845ATP7Bc.*591T>G (n.*591T>G)
c.*1502T>G (n.*1502T>G)
c.2244+238T>G (n.2244+238T>G)
c.2758T>G (p.Phe920Val)
c.2425T>G (p.Phe809Val)
c.2506T>G (p.Phe836Val)
c.2524T>G (p.Phe842Val)
c.1800+238T>G (n.1800+238T>G)
c.1468T>G (p.Phe490Val)
c.719T>G
n.3556T>G
n.2103T>G
c.2614T>G (p.Phe872Val)
n.212-3291T>G
c.2662T>G (p.Phe888Val)
c.2722T>G (p.Phe908Val)
c.2272T>G (p.Phe758Val)
c.574T>G (p.Phe192Val)
c.2730+238T>G (n.2730+238T>G)
c.2344T>G (p.Phe782Val)
c.1426T>G (p.Phe476Val)
n.2977T>G
13g.51949769A>GCA388033846ATP7Bc.*591T>C (n.*591T>C)
c.*1502T>C (n.*1502T>C)
c.2244+238T>C (n.2244+238T>C)
c.2758T>C (p.Phe920Leu)
c.2425T>C (p.Phe809Leu)
c.2506T>C (p.Phe836Leu)
c.2524T>C (p.Phe842Leu)
c.1800+238T>C (n.1800+238T>C)
c.1468T>C (p.Phe490Leu)
c.719T>C
n.3556T>C
n.2103T>C
c.2614T>C (p.Phe872Leu)
n.212-3291T>C
c.2662T>C (p.Phe888Leu)
c.2722T>C (p.Phe908Leu)
c.2272T>C (p.Phe758Leu)
c.574T>C (p.Phe192Leu)
c.2730+238T>C (n.2730+238T>C)
c.2344T>C (p.Phe782Leu)
c.1426T>C (p.Phe476Leu)
n.2977T>C
13g.51949769A>TCA388033848ATP7Bc.*591T>A (n.*591T>A)
c.*1502T>A (n.*1502T>A)
c.2244+238T>A (n.2244+238T>A)
c.2758T>A (p.Phe920Ile)
c.2425T>A (p.Phe809Ile)
c.2506T>A (p.Phe836Ile)
c.2524T>A (p.Phe842Ile)
c.1800+238T>A (n.1800+238T>A)
c.1468T>A (p.Phe490Ile)
c.719T>A
n.3556T>A
n.2103T>A
c.2614T>A (p.Phe872Ile)
n.212-3291T>A
c.2662T>A (p.Phe888Ile)
c.2722T>A (p.Phe908Ile)
c.2272T>A (p.Phe758Ile)
c.574T>A (p.Phe192Ile)
c.2730+238T>A (n.2730+238T>A)
c.2344T>A (p.Phe782Ile)
c.1426T>A (p.Phe476Ile)
n.2977T>A

Number of alleles fetched