Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46366993_46366994delCA10079148PCNTc.*1515_*1516del (n.*1515_*1516del)
n.3105_3106del
c.3019_3020del (p.Leu1007SerfsTer?)
c.*2262_*2263del (n.*2262_*2263del)
n.3288_3289del
c.2665_2666del (p.Leu889SerfsTer?)
c.3100_3101del (p.Leu1034SerfsTer?)
c.1903_1904del (p.Leu635SerfsTer?)
c.799_800del (p.Leu267SerfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366991C>ACA410570004PCNTc.*1513C>A (n.*1513C>A)
n.3103C>A
c.3017C>A (p.Ser1006Tyr)
c.*2260C>A (n.*2260C>A)
n.3286C>A
c.2663C>A (p.Ser888Tyr)
c.3098C>A (p.Ser1033Tyr)
c.1901C>A (p.Ser634Tyr)
c.797C>A (p.Ser266Tyr)
21g.46366991C=CA2392640210PCNTc.*1513C= (n.*1513C=)
n.3103C=
c.3017C= (p.Ser1006=)
c.*2260C= (n.*2260C=)
n.3286C=
c.2663C= (p.Ser888=)
c.3098C= (p.Ser1033=)
c.1901C= (p.Ser634=)
c.797C= (p.Ser266=)
21g.46366991C>GCA10079150PCNTc.*1513C>G (n.*1513C>G)
n.3103C>G
c.3017C>G (p.Ser1006Cys)
c.*2260C>G (n.*2260C>G)
n.3286C>G
c.2663C>G (p.Ser888Cys)
c.3098C>G (p.Ser1033Cys)
c.1901C>G (p.Ser634Cys)
c.797C>G (p.Ser266Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46366991C>TCA410570008PCNTc.*1513C>T (n.*1513C>T)
n.3103C>T
c.3017C>T (p.Ser1006Phe)
c.*2260C>T (n.*2260C>T)
n.3286C>T
c.2663C>T (p.Ser888Phe)
c.3098C>T (p.Ser1033Phe)
c.1901C>T (p.Ser634Phe)
c.797C>T (p.Ser266Phe)
 COSMIC
21g.46366992T>ACA513173742PCNTc.*1514T>A (n.*1514T>A)
n.3104T>A
c.3018T>A (p.Ser1006=)
c.*2261T>A (n.*2261T>A)
n.3287T>A
c.2664T>A (p.Ser888=)
c.3099T>A (p.Ser1033=)
c.1902T>A (p.Ser634=)
c.798T>A (p.Ser266=)
21g.46366992T>CCA513173744PCNTc.*1514T>C (n.*1514T>C)
n.3104T>C
c.3018T>C (p.Ser1006=)
c.*2261T>C (n.*2261T>C)
n.3287T>C
c.2664T>C (p.Ser888=)
c.3099T>C (p.Ser1033=)
c.1902T>C (p.Ser634=)
c.798T>C (p.Ser266=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46366992T>GCA513173745PCNTc.*1514T>G (n.*1514T>G)
n.3104T>G
c.3018T>G (p.Ser1006=)
c.*2261T>G (n.*2261T>G)
n.3287T>G
c.2664T>G (p.Ser888=)
c.3099T>G (p.Ser1033=)
c.1902T>G (p.Ser634=)
c.798T>G (p.Ser266=)
21g.46366992T=CA2392640211PCNTc.*1514T= (n.*1514T=)
n.3104T=
c.3018T= (p.Ser1006=)
c.*2261T= (n.*2261T=)
n.3287T=
c.2664T= (p.Ser888=)
c.3099T= (p.Ser1033=)
c.1902T= (p.Ser634=)
c.798T= (p.Ser266=)
21g.46366993C>ACA410570013PCNTc.*1515C>A (n.*1515C>A)
n.3105C>A
c.3019C>A (p.Leu1007Ile)
c.*2262C>A (n.*2262C>A)
n.3288C>A
c.2665C>A (p.Leu889Ile)
c.3100C>A (p.Leu1034Ile)
c.1903C>A (p.Leu635Ile)
c.799C>A (p.Leu267Ile)
 gnomAD v4
21g.46366993C>GCA410570015PCNTc.*1515C>G (n.*1515C>G)
n.3105C>G
c.3019C>G (p.Leu1007Val)
c.*2262C>G (n.*2262C>G)
n.3288C>G
c.2665C>G (p.Leu889Val)
c.3100C>G (p.Leu1034Val)
c.1903C>G (p.Leu635Val)
c.799C>G (p.Leu267Val)
21g.46366993C>TCA410570016PCNTc.*1515C>T (n.*1515C>T)
n.3105C>T
c.3019C>T (p.Leu1007Phe)
c.*2262C>T (n.*2262C>T)
n.3288C>T
c.2665C>T (p.Leu889Phe)
c.3100C>T (p.Leu1034Phe)
c.1903C>T (p.Leu635Phe)
c.799C>T (p.Leu267Phe)
21g.46366994T>ACA410570018PCNTc.*1516T>A (n.*1516T>A)
n.3106T>A
c.3020T>A (p.Leu1007His)
c.*2263T>A (n.*2263T>A)
n.3289T>A
c.2666T>A (p.Leu889His)
c.3101T>A (p.Leu1034His)
c.1904T>A (p.Leu635His)
c.800T>A (p.Leu267His)
21g.46366994T>CCA410570021PCNTc.*1516T>C (n.*1516T>C)
n.3106T>C
c.3020T>C (p.Leu1007Pro)
c.*2263T>C (n.*2263T>C)
n.3289T>C
c.2666T>C (p.Leu889Pro)
c.3101T>C (p.Leu1034Pro)
c.1904T>C (p.Leu635Pro)
c.800T>C (p.Leu267Pro)
21g.46366994T>GCA410570023PCNTc.*1516T>G (n.*1516T>G)
n.3106T>G
c.3020T>G (p.Leu1007Arg)
c.*2263T>G (n.*2263T>G)
n.3289T>G
c.2666T>G (p.Leu889Arg)
c.3101T>G (p.Leu1034Arg)
c.1904T>G (p.Leu635Arg)
c.800T>G (p.Leu267Arg)
21g.46366995T>ACA513173748PCNTc.*1517T>A (n.*1517T>A)
n.3107T>A
c.3021T>A (p.Leu1007=)
c.*2264T>A (n.*2264T>A)
n.3290T>A
c.2667T>A (p.Leu889=)
c.3102T>A (p.Leu1034=)
c.1905T>A (p.Leu635=)
c.801T>A (p.Leu267=)
21g.46366995T>CCA513173749PCNTc.*1517T>C (n.*1517T>C)
n.3107T>C
c.3021T>C (p.Leu1007=)
c.*2264T>C (n.*2264T>C)
n.3290T>C
c.2667T>C (p.Leu889=)
c.3102T>C (p.Leu1034=)
c.1905T>C (p.Leu635=)
c.801T>C (p.Leu267=)
 ClinVar
21g.46366995T>GCA513173750PCNTc.*1517T>G (n.*1517T>G)
n.3107T>G
c.3021T>G (p.Leu1007=)
c.*2264T>G (n.*2264T>G)
n.3290T>G
c.2667T>G (p.Leu889=)
c.3102T>G (p.Leu1034=)
c.1905T>G (p.Leu635=)
c.801T>G (p.Leu267=)
21g.46366996C>ACA410570031PCNTc.*1518C>A (n.*1518C>A)
n.3108C>A
c.3022C>A (p.His1008Asn)
c.*2265C>A (n.*2265C>A)
n.3291C>A
c.2668C>A (p.His890Asn)
c.3103C>A (p.His1035Asn)
c.1906C>A (p.His636Asn)
c.802C>A (p.His268Asn)
21g.46366996C>GCA410570026PCNTc.*1518C>G (n.*1518C>G)
n.3108C>G
c.3022C>G (p.His1008Asp)
c.*2265C>G (n.*2265C>G)
n.3291C>G
c.2668C>G (p.His890Asp)
c.3103C>G (p.His1035Asp)
c.1906C>G (p.His636Asp)
c.802C>G (p.His268Asp)
21g.46366996C>TCA410570029PCNTc.*1518C>T (n.*1518C>T)
n.3108C>T
c.3022C>T (p.His1008Tyr)
c.*2265C>T (n.*2265C>T)
n.3291C>T
c.2668C>T (p.His890Tyr)
c.3103C>T (p.His1035Tyr)
c.1906C>T (p.His636Tyr)
c.802C>T (p.His268Tyr)
 gnomAD v4
21g.46366998_46367000delCA2655020864PCNTc.*1520_*1522del (n.*1520_*1522del)
n.3110_3112del
c.3024_3026del (p.His1008del)
c.*2267_*2269del (n.*2267_*2269del)
n.3293_3295del
c.2670_2672del (p.His890del)
c.3105_3107del (p.His1035del)
c.1908_1910del (p.His636del)
c.804_806del (p.His268del)
 gnomAD v4
21g.46366997A=CA2392640212PCNTc.*1519A= (n.*1519A=)
n.3109A=
c.3023A= (p.His1008=)
c.*2266A= (n.*2266A=)
n.3292A=
c.2669A= (p.His890=)
c.3104A= (p.His1035=)
c.1907A= (p.His636=)
c.803A= (p.His268=)
21g.46366997A>CCA410570033PCNTc.*1519A>C (n.*1519A>C)
n.3109A>C
c.3023A>C (p.His1008Pro)
c.*2266A>C (n.*2266A>C)
n.3292A>C
c.2669A>C (p.His890Pro)
c.3104A>C (p.His1035Pro)
c.1907A>C (p.His636Pro)
c.803A>C (p.His268Pro)
21g.46366997A>GCA322005886PCNTc.*1519A>G (n.*1519A>G)
n.3109A>G
c.3023A>G (p.His1008Arg)
c.*2266A>G (n.*2266A>G)
n.3292A>G
c.2669A>G (p.His890Arg)
c.3104A>G (p.His1035Arg)
c.1907A>G (p.His636Arg)
c.803A>G (p.His268Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.46366997A>TCA410570037PCNTc.*1519A>T (n.*1519A>T)
n.3109A>T
c.3023A>T (p.His1008Leu)
c.*2266A>T (n.*2266A>T)
n.3292A>T
c.2669A>T (p.His890Leu)
c.3104A>T (p.His1035Leu)
c.1907A>T (p.His636Leu)
c.803A>T (p.His268Leu)
21g.46366998C>ACA410570041PCNTc.*1520C>A (n.*1520C>A)
n.3110C>A
c.3024C>A (p.His1008Gln)
c.*2267C>A (n.*2267C>A)
n.3293C>A
c.2670C>A (p.His890Gln)
c.3105C>A (p.His1035Gln)
c.1908C>A (p.His636Gln)
c.804C>A (p.His268Gln)
21g.46366998C>GCA410570043PCNTc.*1520C>G (n.*1520C>G)
n.3110C>G
c.3024C>G (p.His1008Gln)
c.*2267C>G (n.*2267C>G)
n.3293C>G
c.2670C>G (p.His890Gln)
c.3105C>G (p.His1035Gln)
c.1908C>G (p.His636Gln)
c.804C>G (p.His268Gln)
21g.46366998C>TCA513173753PCNTc.*1520C>T (n.*1520C>T)
n.3110C>T
c.3024C>T (p.His1008=)
c.*2267C>T (n.*2267C>T)
n.3293C>T
c.2670C>T (p.His890=)
c.3105C>T (p.His1035=)
c.1908C>T (p.His636=)
c.804C>T (p.His268=)
21g.46366999C>ACA410570046PCNTc.*1521C>A (n.*1521C>A)
n.3111C>A
c.3025C>A (p.Gln1009Lys)
c.*2268C>A (n.*2268C>A)
n.3294C>A
c.2671C>A (p.Gln891Lys)
c.3106C>A (p.Gln1036Lys)
c.1909C>A (p.Gln637Lys)
c.805C>A (p.Gln269Lys)
21g.46366999C=CA2392640213PCNTc.*1521C= (n.*1521C=)
n.3111C=
c.3025C= (p.Gln1009=)
c.*2268C= (n.*2268C=)
n.3294C=
c.2671C= (p.Gln891=)
c.3106C= (p.Gln1036=)
c.1909C= (p.Gln637=)
c.805C= (p.Gln269=)
21g.46366999C>GCA410570049PCNTc.*1521C>G (n.*1521C>G)
n.3111C>G
c.3025C>G (p.Gln1009Glu)
c.*2268C>G (n.*2268C>G)
n.3294C>G
c.2671C>G (p.Gln891Glu)
c.3106C>G (p.Gln1036Glu)
c.1909C>G (p.Gln637Glu)
c.805C>G (p.Gln269Glu)
21g.46366999C>TCA410570052PCNTc.*1521C>T (n.*1521C>T)
n.3111C>T
c.3025C>T (p.Gln1009Ter)
c.*2268C>T (n.*2268C>T)
n.3294C>T
c.2671C>T (p.Gln891Ter)
c.3106C>T (p.Gln1036Ter)
c.1909C>T (p.Gln637Ter)
c.805C>T (p.Gln269Ter)
 dbSNP
21g.46367000A=CA2392640214PCNTc.*1522A= (n.*1522A=)
n.3112A=
c.3026A= (p.Gln1009=)
c.*2269A= (n.*2269A=)
n.3295A=
c.2672A= (p.Gln891=)
c.3107A= (p.Gln1036=)
c.1910A= (p.Gln637=)
c.806A= (p.Gln269=)
21g.46367000A>CCA410570054PCNTc.*1522A>C (n.*1522A>C)
n.3112A>C
c.3026A>C (p.Gln1009Pro)
c.*2269A>C (n.*2269A>C)
n.3295A>C
c.2672A>C (p.Gln891Pro)
c.3107A>C (p.Gln1036Pro)
c.1910A>C (p.Gln637Pro)
c.806A>C (p.Gln269Pro)
21g.46367000A>GCA410570057PCNTc.*1522A>G (n.*1522A>G)
n.3112A>G
c.3026A>G (p.Gln1009Arg)
c.*2269A>G (n.*2269A>G)
n.3295A>G
c.2672A>G (p.Gln891Arg)
c.3107A>G (p.Gln1036Arg)
c.1910A>G (p.Gln637Arg)
c.806A>G (p.Gln269Arg)
 dbSNP gnomAD v2 gnomAD v4
21g.46367000A>TCA410570059PCNTc.*1522A>T (n.*1522A>T)
n.3112A>T
c.3026A>T (p.Gln1009Leu)
c.*2269A>T (n.*2269A>T)
n.3295A>T
c.2672A>T (p.Gln891Leu)
c.3107A>T (p.Gln1036Leu)
c.1910A>T (p.Gln637Leu)
c.806A>T (p.Gln269Leu)
21g.46367002delCA2577633570PCNTc.*1524del (n.*1524del)
n.3114del
c.3028del (p.Thr1010ArgfsTer3)
c.*2271del (n.*2271del)
n.3297del
c.2674del (p.Thr892ArgfsTer3)
c.3109del (p.Thr1037ArgfsTer3)
c.1912del (p.Thr638ArgfsTer3)
c.808del (p.Thr270ArgfsTer3)
 ClinVar gnomAD v4
21g.46367001A=CA2392640215PCNTc.*1523A= (n.*1523A=)
n.3113A=
c.3027A= (p.Gln1009=)
c.*2270A= (n.*2270A=)
n.3296A=
c.2673A= (p.Gln891=)
c.3108A= (p.Gln1036=)
c.1911A= (p.Gln637=)
c.807A= (p.Gln269=)
21g.46367001A>CCA410570065PCNTc.*1523A>C (n.*1523A>C)
n.3113A>C
c.3027A>C (p.Gln1009His)
c.*2270A>C (n.*2270A>C)
n.3296A>C
c.2673A>C (p.Gln891His)
c.3108A>C (p.Gln1036His)
c.1911A>C (p.Gln637His)
c.807A>C (p.Gln269His)
21g.46367001A>GCA10079151PCNTc.*1523A>G (n.*1523A>G)
n.3113A>G
c.3027A>G (p.Gln1009=)
c.*2270A>G (n.*2270A>G)
n.3296A>G
c.2673A>G (p.Gln891=)
c.3108A>G (p.Gln1036=)
c.1911A>G (p.Gln637=)
c.807A>G (p.Gln269=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367001A>TCA410570062PCNTc.*1523A>T (n.*1523A>T)
n.3113A>T
c.3027A>T (p.Gln1009His)
c.*2270A>T (n.*2270A>T)
n.3296A>T
c.2673A>T (p.Gln891His)
c.3108A>T (p.Gln1036His)
c.1911A>T (p.Gln637His)
c.807A>T (p.Gln269His)
21g.46367002A>CCA410570068PCNTc.*1524A>C (n.*1524A>C)
n.3114A>C
c.3028A>C (p.Thr1010Pro)
c.*2271A>C (n.*2271A>C)
n.3297A>C
c.2674A>C (p.Thr892Pro)
c.3109A>C (p.Thr1037Pro)
c.1912A>C (p.Thr638Pro)
c.808A>C (p.Thr270Pro)
21g.46367002A>GCA410570070PCNTc.*1524A>G (n.*1524A>G)
n.3114A>G
c.3028A>G (p.Thr1010Ala)
c.*2271A>G (n.*2271A>G)
n.3297A>G
c.2674A>G (p.Thr892Ala)
c.3109A>G (p.Thr1037Ala)
c.1912A>G (p.Thr638Ala)
c.808A>G (p.Thr270Ala)
21g.46367002A>TCA410570072PCNTc.*1524A>T (n.*1524A>T)
n.3114A>T
c.3028A>T (p.Thr1010Ser)
c.*2271A>T (n.*2271A>T)
n.3297A>T
c.2674A>T (p.Thr892Ser)
c.3109A>T (p.Thr1037Ser)
c.1912A>T (p.Thr638Ser)
c.808A>T (p.Thr270Ser)
21g.46367003C>ACA410570075PCNTc.*1525C>A (n.*1525C>A)
n.3115C>A
c.3029C>A (p.Thr1010Lys)
c.*2272C>A (n.*2272C>A)
n.3298C>A
c.2675C>A (p.Thr892Lys)
c.3110C>A (p.Thr1037Lys)
c.1913C>A (p.Thr638Lys)
c.809C>A (p.Thr270Lys)
21g.46367003C=CA2392640216PCNTc.*1525C= (n.*1525C=)
n.3115C=
c.3029C= (p.Thr1010=)
c.*2272C= (n.*2272C=)
n.3298C=
c.2675C= (p.Thr892=)
c.3110C= (p.Thr1037=)
c.1913C= (p.Thr638=)
c.809C= (p.Thr270=)
21g.46367003C>GCA410570078PCNTc.*1525C>G (n.*1525C>G)
n.3115C>G
c.3029C>G (p.Thr1010Arg)
c.*2272C>G (n.*2272C>G)
n.3298C>G
c.2675C>G (p.Thr892Arg)
c.3110C>G (p.Thr1037Arg)
c.1913C>G (p.Thr638Arg)
c.809C>G (p.Thr270Arg)
 dbSNP
21g.46367003C>TCA322005891PCNTc.*1525C>T (n.*1525C>T)
n.3115C>T
c.3029C>T (p.Thr1010Met)
c.*2272C>T (n.*2272C>T)
n.3298C>T
c.2675C>T (p.Thr892Met)
c.3110C>T (p.Thr1037Met)
c.1913C>T (p.Thr638Met)
c.809C>T (p.Thr270Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46367004delCA2655020865PCNTc.*1526del (n.*1526del)
n.3116del
c.3030del (p.Ile1011PhefsTer2)
c.*2273del (n.*2273del)
n.3299del
c.2676del (p.Ile893PhefsTer2)
c.3111del (p.Ile1038PhefsTer2)
c.1914del (p.Ile639PhefsTer2)
c.810del (p.Ile271PhefsTer2)
 gnomAD v4
21g.46367004G>ACA10079152PCNTc.*1526G>A (n.*1526G>A)
n.3116G>A
c.3030G>A (p.Thr1010=)
c.*2273G>A (n.*2273G>A)
n.3299G>A
c.2676G>A (p.Thr892=)
c.3111G>A (p.Thr1037=)
c.1914G>A (p.Thr638=)
c.810G>A (p.Thr270=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46367004G>CCA512734381PCNTc.*1526G>C (n.*1526G>C)
n.3116G>C
c.3030G>C (p.Thr1010=)
c.*2273G>C (n.*2273G>C)
n.3299G>C
c.2676G>C (p.Thr892=)
c.3111G>C (p.Thr1037=)
c.1914G>C (p.Thr638=)
c.810G>C (p.Thr270=)
21g.46367004G=CA2392640217PCNTc.*1526G= (n.*1526G=)
n.3116G=
c.3030G= (p.Thr1010=)
c.*2273G= (n.*2273G=)
n.3299G=
c.2676G= (p.Thr892=)
c.3111G= (p.Thr1037=)
c.1914G= (p.Thr638=)
c.810G= (p.Thr270=)
21g.46367004G>TCA512734384PCNTc.*1526G>T (n.*1526G>T)
n.3116G>T
c.3030G>T (p.Thr1010=)
c.*2273G>T (n.*2273G>T)
n.3299G>T
c.2676G>T (p.Thr892=)
c.3111G>T (p.Thr1037=)
c.1914G>T (p.Thr638=)
c.810G>T (p.Thr270=)
21g.46367005A=CA2392640218PCNTc.*1527A= (n.*1527A=)
n.3117A=
c.3031A= (p.Ile1011=)
c.*2274A= (n.*2274A=)
n.3300A=
c.2677A= (p.Ile893=)
c.3112A= (p.Ile1038=)
c.1915A= (p.Ile639=)
c.811A= (p.Ile271=)
21g.46367005A>CCA410570085PCNTc.*1527A>C (n.*1527A>C)
n.3117A>C
c.3031A>C (p.Ile1011Leu)
c.*2274A>C (n.*2274A>C)
n.3300A>C
c.2677A>C (p.Ile893Leu)
c.3112A>C (p.Ile1038Leu)
c.1915A>C (p.Ile639Leu)
c.811A>C (p.Ile271Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46367005A>GCA410570087PCNTc.*1527A>G (n.*1527A>G)
n.3117A>G
c.3031A>G (p.Ile1011Val)
c.*2274A>G (n.*2274A>G)
n.3300A>G
c.2677A>G (p.Ile893Val)
c.3112A>G (p.Ile1038Val)
c.1915A>G (p.Ile639Val)
c.811A>G (p.Ile271Val)
21g.46367005A>TCA410570088PCNTc.*1527A>T (n.*1527A>T)
n.3117A>T
c.3031A>T (p.Ile1011Phe)
c.*2274A>T (n.*2274A>T)
n.3300A>T
c.2677A>T (p.Ile893Phe)
c.3112A>T (p.Ile1038Phe)
c.1915A>T (p.Ile639Phe)
c.811A>T (p.Ile271Phe)
21g.46367006T>ACA410570091PCNTc.*1528T>A (n.*1528T>A)
n.3118T>A
c.3032T>A (p.Ile1011Asn)
c.*2275T>A (n.*2275T>A)
n.3301T>A
c.2678T>A (p.Ile893Asn)
c.3113T>A (p.Ile1038Asn)
c.1916T>A (p.Ile639Asn)
c.812T>A (p.Ile271Asn)
21g.46367006T>CCA410570093PCNTc.*1528T>C (n.*1528T>C)
n.3118T>C
c.3032T>C (p.Ile1011Thr)
c.*2275T>C (n.*2275T>C)
n.3301T>C
c.2678T>C (p.Ile893Thr)
c.3113T>C (p.Ile1038Thr)
c.1916T>C (p.Ile639Thr)
c.812T>C (p.Ile271Thr)
21g.46367006T>GCA410570096PCNTc.*1528T>G (n.*1528T>G)
n.3118T>G
c.3032T>G (p.Ile1011Ser)
c.*2275T>G (n.*2275T>G)
n.3301T>G
c.2678T>G (p.Ile893Ser)
c.3113T>G (p.Ile1038Ser)
c.1916T>G (p.Ile639Ser)
c.812T>G (p.Ile271Ser)
21g.46367007T>ACA512734390PCNTc.*1529T>A (n.*1529T>A)
n.3119T>A
c.3033T>A (p.Ile1011=)
c.*2276T>A (n.*2276T>A)
n.3302T>A
c.2679T>A (p.Ile893=)
c.3114T>A (p.Ile1038=)
c.1917T>A (p.Ile639=)
c.813T>A (p.Ile271=)
21g.46367007T>CCA512734392PCNTc.*1529T>C (n.*1529T>C)
n.3119T>C
c.3033T>C (p.Ile1011=)
c.*2276T>C (n.*2276T>C)
n.3302T>C
c.2679T>C (p.Ile893=)
c.3114T>C (p.Ile1038=)
c.1917T>C (p.Ile639=)
c.813T>C (p.Ile271=)
21g.46367007T>GCA410570101PCNTc.*1529T>G (n.*1529T>G)
n.3119T>G
c.3033T>G (p.Ile1011Met)
c.*2276T>G (n.*2276T>G)
n.3302T>G
c.2679T>G (p.Ile893Met)
c.3114T>G (p.Ile1038Met)
c.1917T>G (p.Ile639Met)
c.813T>G (p.Ile271Met)
 dbSNP gnomAD v4
21g.46367007T=CA2392640219PCNTc.*1529T= (n.*1529T=)
n.3119T=
c.3033T= (p.Ile1011=)
c.*2276T= (n.*2276T=)
n.3302T=
c.2679T= (p.Ile893=)
c.3114T= (p.Ile1038=)
c.1917T= (p.Ile639=)
c.813T= (p.Ile271=)
21g.46367008T>ACA410570103PCNTc.*1530T>A (n.*1530T>A)
n.3120T>A
c.3034T>A (p.Leu1012Met)
c.*2277T>A (n.*2277T>A)
n.3303T>A
c.2680T>A (p.Leu894Met)
c.3115T>A (p.Leu1039Met)
c.1918T>A (p.Leu640Met)
c.814T>A (p.Leu272Met)
21g.46367008T>CCA512734393PCNTc.*1530T>C (n.*1530T>C)
n.3120T>C
c.3034T>C (p.Leu1012=)
c.*2277T>C (n.*2277T>C)
n.3303T>C
c.2680T>C (p.Leu894=)
c.3115T>C (p.Leu1039=)
c.1918T>C (p.Leu640=)
c.814T>C (p.Leu272=)
21g.46367008T>GCA10079153PCNTc.*1530T>G (n.*1530T>G)
n.3120T>G
c.3034T>G (p.Leu1012Val)
c.*2277T>G (n.*2277T>G)
n.3303T>G
c.2680T>G (p.Leu894Val)
c.3115T>G (p.Leu1039Val)
c.1918T>G (p.Leu640Val)
c.814T>G (p.Leu272Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367008T=CA2392640220PCNTc.*1530T= (n.*1530T=)
n.3120T=
c.3034T= (p.Leu1012=)
c.*2277T= (n.*2277T=)
n.3303T=
c.2680T= (p.Leu894=)
c.3115T= (p.Leu1039=)
c.1918T= (p.Leu640=)
c.814T= (p.Leu272=)
21g.46367009T>ACA410570108PCNTc.*1531T>A (n.*1531T>A)
n.3121T>A
c.3035T>A (p.Leu1012Ter)
c.*2278T>A (n.*2278T>A)
n.3304T>A
c.2681T>A (p.Leu894Ter)
c.3116T>A (p.Leu1039Ter)
c.1919T>A (p.Leu640Ter)
c.815T>A (p.Leu272Ter)
21g.46367009T>CCA410570110PCNTc.*1531T>C (n.*1531T>C)
n.3121T>C
c.3035T>C (p.Leu1012Ser)
c.*2278T>C (n.*2278T>C)
n.3304T>C
c.2681T>C (p.Leu894Ser)
c.3116T>C (p.Leu1039Ser)
c.1919T>C (p.Leu640Ser)
c.815T>C (p.Leu272Ser)
21g.46367009T>GCA410570113PCNTc.*1531T>G (n.*1531T>G)
n.3121T>G
c.3035T>G (p.Leu1012Trp)
c.*2278T>G (n.*2278T>G)
n.3304T>G
c.2681T>G (p.Leu894Trp)
c.3116T>G (p.Leu1039Trp)
c.1919T>G (p.Leu640Trp)
c.815T>G (p.Leu272Trp)
21g.46367009_46367031delCA2655020866PCNTc.*1531_*1553del (n.*1531_*1553del)
n.3121_3143del
c.3035_3057del (p.Leu1012Ter)
c.*2278_*2300del (n.*2278_*2300del)
n.3304_3326del
c.2681_2703del (p.Leu894Ter)
c.3116_3138del (p.Leu1039Ter)
c.1919_1941del (p.Leu640Ter)
c.815_837del (p.Leu272Ter)
 gnomAD v4
21g.46367010G>ACA322005901PCNTc.*1532G>A (n.*1532G>A)
n.3122G>A
c.3036G>A (p.Leu1012=)
c.*2279G>A (n.*2279G>A)
n.3305G>A
c.2682G>A (p.Leu894=)
c.3117G>A (p.Leu1039=)
c.1920G>A (p.Leu640=)
c.816G>A (p.Leu272=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46367010G>CCA410570119PCNTc.*1532G>C (n.*1532G>C)
n.3122G>C
c.3036G>C (p.Leu1012Phe)
c.*2279G>C (n.*2279G>C)
n.3305G>C
c.2682G>C (p.Leu894Phe)
c.3117G>C (p.Leu1039Phe)
c.1920G>C (p.Leu640Phe)
c.816G>C (p.Leu272Phe)
21g.46367010G=CA2392640221PCNTc.*1532G= (n.*1532G=)
n.3122G=
c.3036G= (p.Leu1012=)
c.*2279G= (n.*2279G=)
n.3305G=
c.2682G= (p.Leu894=)
c.3117G= (p.Leu1039=)
c.1920G= (p.Leu640=)
c.816G= (p.Leu272=)
21g.46367010G>TCA410570122PCNTc.*1532G>T (n.*1532G>T)
n.3122G>T
c.3036G>T (p.Leu1012Phe)
c.*2279G>T (n.*2279G>T)
n.3305G>T
c.2682G>T (p.Leu894Phe)
c.3117G>T (p.Leu1039Phe)
c.1920G>T (p.Leu640Phe)
c.816G>T (p.Leu272Phe)
21g.46367011A>CCA410570127PCNTc.*1533A>C (n.*1533A>C)
n.3123A>C
c.3037A>C (p.Thr1013Pro)
c.*2280A>C (n.*2280A>C)
n.3306A>C
c.2683A>C (p.Thr895Pro)
c.3118A>C (p.Thr1040Pro)
c.1921A>C (p.Thr641Pro)
c.817A>C (p.Thr273Pro)
21g.46367011A>GCA410570128PCNTc.*1533A>G (n.*1533A>G)
n.3123A>G
c.3037A>G (p.Thr1013Ala)
c.*2280A>G (n.*2280A>G)
n.3306A>G
c.2683A>G (p.Thr895Ala)
c.3118A>G (p.Thr1040Ala)
c.1921A>G (p.Thr641Ala)
c.817A>G (p.Thr273Ala)
21g.46367011A>TCA410570131PCNTc.*1533A>T (n.*1533A>T)
n.3123A>T
c.3037A>T (p.Thr1013Ser)
c.*2280A>T (n.*2280A>T)
n.3306A>T
c.2683A>T (p.Thr895Ser)
c.3118A>T (p.Thr1040Ser)
c.1921A>T (p.Thr641Ser)
c.817A>T (p.Thr273Ser)
21g.46367012C>ACA410570135PCNTc.*1534C>A (n.*1534C>A)
n.3124C>A
c.3038C>A (p.Thr1013Asn)
c.*2281C>A (n.*2281C>A)
n.3307C>A
c.2684C>A (p.Thr895Asn)
c.3119C>A (p.Thr1040Asn)
c.1922C>A (p.Thr641Asn)
c.818C>A (p.Thr273Asn)
21g.46367012C=CA2392640222PCNTc.*1534C= (n.*1534C=)
n.3124C=
c.3038C= (p.Thr1013=)
c.*2281C= (n.*2281C=)
n.3307C=
c.2684C= (p.Thr895=)
c.3119C= (p.Thr1040=)
c.1922C= (p.Thr641=)
c.818C= (p.Thr273=)
21g.46367012C>GCA410570136PCNTc.*1534C>G (n.*1534C>G)
n.3124C>G
c.3038C>G (p.Thr1013Ser)
c.*2281C>G (n.*2281C>G)
n.3307C>G
c.2684C>G (p.Thr895Ser)
c.3119C>G (p.Thr1040Ser)
c.1922C>G (p.Thr641Ser)
c.818C>G (p.Thr273Ser)
 dbSNP gnomAD v3 gnomAD v4
21g.46367012C>TCA10079154PCNTc.*1534C>T (n.*1534C>T)
n.3124C>T
c.3038C>T (p.Thr1013Ile)
c.*2281C>T (n.*2281C>T)
n.3307C>T
c.2684C>T (p.Thr895Ile)
c.3119C>T (p.Thr1040Ile)
c.1922C>T (p.Thr641Ile)
c.818C>T (p.Thr273Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367013T>ACA512734401PCNTc.*1535T>A (n.*1535T>A)
n.3125T>A
c.3039T>A (p.Thr1013=)
c.*2282T>A (n.*2282T>A)
n.3308T>A
c.2685T>A (p.Thr895=)
c.3120T>A (p.Thr1040=)
c.1923T>A (p.Thr641=)
c.819T>A (p.Thr273=)
21g.46367013T>CCA512734402PCNTc.*1535T>C (n.*1535T>C)
n.3125T>C
c.3039T>C (p.Thr1013=)
c.*2282T>C (n.*2282T>C)
n.3308T>C
c.2685T>C (p.Thr895=)
c.3120T>C (p.Thr1040=)
c.1923T>C (p.Thr641=)
c.819T>C (p.Thr273=)
21g.46367013T>GCA512734403PCNTc.*1535T>G (n.*1535T>G)
n.3125T>G
c.3039T>G (p.Thr1013=)
c.*2282T>G (n.*2282T>G)
n.3308T>G
c.2685T>G (p.Thr895=)
c.3120T>G (p.Thr1040=)
c.1923T>G (p.Thr641=)
c.819T>G (p.Thr273=)
21g.46367014C>ACA410570142PCNTc.*1536C>A (n.*1536C>A)
n.3126C>A
c.3040C>A (p.Gln1014Lys)
c.*2283C>A (n.*2283C>A)
n.3309C>A
c.2686C>A (p.Gln896Lys)
c.3121C>A (p.Gln1041Lys)
c.1924C>A (p.Gln642Lys)
c.820C>A (p.Gln274Lys)
21g.46367014C=CA2392640223PCNTc.*1536C= (n.*1536C=)
n.3126C=
c.3040C= (p.Gln1014=)
c.*2283C= (n.*2283C=)
n.3309C=
c.2686C= (p.Gln896=)
c.3121C= (p.Gln1041=)
c.1924C= (p.Gln642=)
c.820C= (p.Gln274=)
21g.46367014C>GCA10079157PCNTc.*1536C>G (n.*1536C>G)
n.3126C>G
c.3040C>G (p.Gln1014Glu)
c.*2283C>G (n.*2283C>G)
n.3309C>G
c.2686C>G (p.Gln896Glu)
c.3121C>G (p.Gln1041Glu)
c.1924C>G (p.Gln642Glu)
c.820C>G (p.Gln274Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367014C>TCA10079156PCNTc.*1536C>T (n.*1536C>T)
n.3126C>T
c.3040C>T (p.Gln1014Ter)
c.*2283C>T (n.*2283C>T)
n.3309C>T
c.2686C>T (p.Gln896Ter)
c.3121C>T (p.Gln1041Ter)
c.1924C>T (p.Gln642Ter)
c.820C>T (p.Gln274Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367014_46367016delinsCAACA2392640224PCNTc.*1536_*1538delinsCAA (n.*1536_*1538delinsCAA)
n.3126_3128delinsCAA
c.3040_3042delinsCAA (p.Gln1014=)
c.*2283_*2285delinsCAA (n.*2283_*2285delinsCAA)
n.3309_3311delinsCAA
c.2686_2688delinsCAA (p.Gln896=)
c.3121_3123delinsCAA (p.Gln1041=)
c.1924_1926delinsCAA (p.Gln642=)
c.820_822delinsCAA (p.Gln274=)
21g.46367015A=CA2392640225PCNTc.*1537A= (n.*1537A=)
n.3127A=
c.3041A= (p.Gln1014=)
c.*2284A= (n.*2284A=)
n.3310A=
c.2687A= (p.Gln896=)
c.3122A= (p.Gln1041=)
c.1925A= (p.Gln642=)
c.821A= (p.Gln274=)
21g.46367015A>CCA410570147PCNTc.*1537A>C (n.*1537A>C)
n.3127A>C
c.3041A>C (p.Gln1014Pro)
c.*2284A>C (n.*2284A>C)
n.3310A>C
c.2687A>C (p.Gln896Pro)
c.3122A>C (p.Gln1041Pro)
c.1925A>C (p.Gln642Pro)
c.821A>C (p.Gln274Pro)
21g.46367015A>GCA10079158PCNTc.*1537A>G (n.*1537A>G)
n.3127A>G
c.3041A>G (p.Gln1014Arg)
c.*2284A>G (n.*2284A>G)
n.3310A>G
c.2687A>G (p.Gln896Arg)
c.3122A>G (p.Gln1041Arg)
c.1925A>G (p.Gln642Arg)
c.821A>G (p.Gln274Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367015A>TCA410570153PCNTc.*1537A>T (n.*1537A>T)
n.3127A>T
c.3041A>T (p.Gln1014Leu)
c.*2284A>T (n.*2284A>T)
n.3310A>T
c.2687A>T (p.Gln896Leu)
c.3122A>T (p.Gln1041Leu)
c.1925A>T (p.Gln642Leu)
c.821A>T (p.Gln274Leu)
21g.46367015_46367016delCA10079155PCNTc.*1537_*1538del (n.*1537_*1538del)
n.3127_3128del
c.3041_3042del (p.Gln1014ArgfsTer?)
c.*2284_*2285del (n.*2284_*2285del)
n.3310_3311del
c.2687_2688del (p.Gln896ArgfsTer?)
c.3122_3123del (p.Gln1041ArgfsTer?)
c.1925_1926del (p.Gln642ArgfsTer?)
c.821_822del (p.Gln274ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367016A>CCA410570159PCNTc.*1538A>C (n.*1538A>C)
n.3128A>C
c.3042A>C (p.Gln1014His)
c.*2285A>C (n.*2285A>C)
n.3311A>C
c.2688A>C (p.Gln896His)
c.3123A>C (p.Gln1041His)
c.1926A>C (p.Gln642His)
c.822A>C (p.Gln274His)
21g.46367016A>GCA512734406PCNTc.*1538A>G (n.*1538A>G)
n.3128A>G
c.3042A>G (p.Gln1014=)
c.*2285A>G (n.*2285A>G)
n.3311A>G
c.2688A>G (p.Gln896=)
c.3123A>G (p.Gln1041=)
c.1926A>G (p.Gln642=)
c.822A>G (p.Gln274=)
 gnomAD v4
21g.46367016A>TCA410570156PCNTc.*1538A>T (n.*1538A>T)
n.3128A>T
c.3042A>T (p.Gln1014His)
c.*2285A>T (n.*2285A>T)
n.3311A>T
c.2688A>T (p.Gln896His)
c.3123A>T (p.Gln1041His)
c.1926A>T (p.Gln642His)
c.822A>T (p.Gln274His)
21g.46367017G>ACA410570166PCNTc.*1539G>A (n.*1539G>A)
n.3129G>A
c.3043G>A (p.Glu1015Lys)
c.*2286G>A (n.*2286G>A)
n.3312G>A
c.2689G>A (p.Glu897Lys)
c.3124G>A (p.Glu1042Lys)
c.1927G>A (p.Glu643Lys)
c.823G>A (p.Glu275Lys)
 dbSNP gnomAD v2 gnomAD v4
21g.46367017G>CCA410570162PCNTc.*1539G>C (n.*1539G>C)
n.3129G>C
c.3043G>C (p.Glu1015Gln)
c.*2286G>C (n.*2286G>C)
n.3312G>C
c.2689G>C (p.Glu897Gln)
c.3124G>C (p.Glu1042Gln)
c.1927G>C (p.Glu643Gln)
c.823G>C (p.Glu275Gln)
21g.46367017G=CA2392640226PCNTc.*1539G= (n.*1539G=)
n.3129G=
c.3043G= (p.Glu1015=)
c.*2286G= (n.*2286G=)
n.3312G=
c.2689G= (p.Glu897=)
c.3124G= (p.Glu1042=)
c.1927G= (p.Glu643=)
c.823G= (p.Glu275=)
21g.46367017G>TCA410570164PCNTc.*1539G>T (n.*1539G>T)
n.3129G>T
c.3043G>T (p.Glu1015Ter)
c.*2286G>T (n.*2286G>T)
n.3312G>T
c.2689G>T (p.Glu897Ter)
c.3124G>T (p.Glu1042Ter)
c.1927G>T (p.Glu643Ter)
c.823G>T (p.Glu275Ter)
21g.46367018A=CA2392640227PCNTc.*1540A= (n.*1540A=)
n.3130A=
c.3044A= (p.Glu1015=)
c.*2287A= (n.*2287A=)
n.3313A=
c.2690A= (p.Glu897=)
c.3125A= (p.Glu1042=)
c.1928A= (p.Glu643=)
c.824A= (p.Glu275=)
21g.46367018A>CCA410570168PCNTc.*1540A>C (n.*1540A>C)
n.3130A>C
c.3044A>C (p.Glu1015Ala)
c.*2287A>C (n.*2287A>C)
n.3313A>C
c.2690A>C (p.Glu897Ala)
c.3125A>C (p.Glu1042Ala)
c.1928A>C (p.Glu643Ala)
c.824A>C (p.Glu275Ala)
21g.46367018A>GCA322005924PCNTc.*1540A>G (n.*1540A>G)
n.3130A>G
c.3044A>G (p.Glu1015Gly)
c.*2287A>G (n.*2287A>G)
n.3313A>G
c.2690A>G (p.Glu897Gly)
c.3125A>G (p.Glu1042Gly)
c.1928A>G (p.Glu643Gly)
c.824A>G (p.Glu275Gly)
 dbSNP
21g.46367018A>TCA410570171PCNTc.*1540A>T (n.*1540A>T)
n.3130A>T
c.3044A>T (p.Glu1015Val)
c.*2287A>T (n.*2287A>T)
n.3313A>T
c.2690A>T (p.Glu897Val)
c.3125A>T (p.Glu1042Val)
c.1928A>T (p.Glu643Val)
c.824A>T (p.Glu275Val)
 gnomAD v4
21g.46367019G>ACA512734413PCNTc.*1541G>A (n.*1541G>A)
n.3131G>A
c.3045G>A (p.Glu1015=)
c.*2288G>A (n.*2288G>A)
n.3314G>A
c.2691G>A (p.Glu897=)
c.3126G>A (p.Glu1042=)
c.1929G>A (p.Glu643=)
c.825G>A (p.Glu275=)
21g.46367019G>CCA410570174PCNTc.*1541G>C (n.*1541G>C)
n.3131G>C
c.3045G>C (p.Glu1015Asp)
c.*2288G>C (n.*2288G>C)
n.3314G>C
c.2691G>C (p.Glu897Asp)
c.3126G>C (p.Glu1042Asp)
c.1929G>C (p.Glu643Asp)
c.825G>C (p.Glu275Asp)
21g.46367019G>TCA410570176PCNTc.*1541G>T (n.*1541G>T)
n.3131G>T
c.3045G>T (p.Glu1015Asp)
c.*2288G>T (n.*2288G>T)
n.3314G>T
c.2691G>T (p.Glu897Asp)
c.3126G>T (p.Glu1042Asp)
c.1929G>T (p.Glu643Asp)
c.825G>T (p.Glu275Asp)
21g.46367020T>ACA410570179PCNTc.*1542T>A (n.*1542T>A)
n.3132T>A
c.3046T>A (p.Leu1016Met)
c.*2289T>A (n.*2289T>A)
n.3315T>A
c.2692T>A (p.Leu898Met)
c.3127T>A (p.Leu1043Met)
c.1930T>A (p.Leu644Met)
c.826T>A (p.Leu276Met)
21g.46367020T>CCA512734415PCNTc.*1542T>C (n.*1542T>C)
n.3132T>C
c.3046T>C (p.Leu1016=)
c.*2289T>C (n.*2289T>C)
n.3315T>C
c.2692T>C (p.Leu898=)
c.3127T>C (p.Leu1043=)
c.1930T>C (p.Leu644=)
c.826T>C (p.Leu276=)
21g.46367020T>GCA410570182PCNTc.*1542T>G (n.*1542T>G)
n.3132T>G
c.3046T>G (p.Leu1016Val)
c.*2289T>G (n.*2289T>G)
n.3315T>G
c.2692T>G (p.Leu898Val)
c.3127T>G (p.Leu1043Val)
c.1930T>G (p.Leu644Val)
c.826T>G (p.Leu276Val)
21g.46367021T>ACA410570183PCNTc.*1543T>A (n.*1543T>A)
n.3133T>A
c.3047T>A (p.Leu1016Ter)
c.*2290T>A (n.*2290T>A)
n.3316T>A
c.2693T>A (p.Leu898Ter)
c.3128T>A (p.Leu1043Ter)
c.1931T>A (p.Leu644Ter)
c.827T>A (p.Leu276Ter)
21g.46367021T>CCA410570184PCNTc.*1543T>C (n.*1543T>C)
n.3133T>C
c.3047T>C (p.Leu1016Ser)
c.*2290T>C (n.*2290T>C)
n.3316T>C
c.2693T>C (p.Leu898Ser)
c.3128T>C (p.Leu1043Ser)
c.1931T>C (p.Leu644Ser)
c.827T>C (p.Leu276Ser)
 dbSNP gnomAD v2 gnomAD v4
21g.46367021T>GCA410570187PCNTc.*1543T>G (n.*1543T>G)
n.3133T>G
c.3047T>G (p.Leu1016Trp)
c.*2290T>G (n.*2290T>G)
n.3316T>G
c.2693T>G (p.Leu898Trp)
c.3128T>G (p.Leu1043Trp)
c.1931T>G (p.Leu644Trp)
c.827T>G (p.Leu276Trp)
 gnomAD v4
21g.46367021T=CA2392640228PCNTc.*1543T= (n.*1543T=)
n.3133T=
c.3047T= (p.Leu1016=)
c.*2290T= (n.*2290T=)
n.3316T=
c.2693T= (p.Leu898=)
c.3128T= (p.Leu1043=)
c.1931T= (p.Leu644=)
c.827T= (p.Leu276=)
21g.46367022G>ACA322005929PCNTc.*1544G>A (n.*1544G>A)
n.3134G>A
c.3048G>A (p.Leu1016=)
c.*2291G>A (n.*2291G>A)
n.3317G>A
c.2694G>A (p.Leu898=)
c.3129G>A (p.Leu1043=)
c.1932G>A (p.Leu644=)
c.828G>A (p.Leu276=)
 dbSNP gnomAD v4
21g.46367022G>CCA410570190PCNTc.*1544G>C (n.*1544G>C)
n.3134G>C
c.3048G>C (p.Leu1016Phe)
c.*2291G>C (n.*2291G>C)
n.3317G>C
c.2694G>C (p.Leu898Phe)
c.3129G>C (p.Leu1043Phe)
c.1932G>C (p.Leu644Phe)
c.828G>C (p.Leu276Phe)
21g.46367022G=CA2392640229PCNTc.*1544G= (n.*1544G=)
n.3134G=
c.3048G= (p.Leu1016=)
c.*2291G= (n.*2291G=)
n.3317G=
c.2694G= (p.Leu898=)
c.3129G= (p.Leu1043=)
c.1932G= (p.Leu644=)
c.828G= (p.Leu276=)
21g.46367022G>TCA410570192PCNTc.*1544G>T (n.*1544G>T)
n.3134G>T
c.3048G>T (p.Leu1016Phe)
c.*2291G>T (n.*2291G>T)
n.3317G>T
c.2694G>T (p.Leu898Phe)
c.3129G>T (p.Leu1043Phe)
c.1932G>T (p.Leu644Phe)
c.828G>T (p.Leu276Phe)
21g.46367023G>ACA410570197PCNTc.*1545G>A (n.*1545G>A)
n.3135G>A
c.3049G>A (p.Glu1017Lys)
c.*2292G>A (n.*2292G>A)
n.3318G>A
c.2695G>A (p.Glu899Lys)
c.3130G>A (p.Glu1044Lys)
c.1933G>A (p.Glu645Lys)
c.829G>A (p.Glu277Lys)
21g.46367023G>CCA10079159PCNTc.*1545G>C (n.*1545G>C)
n.3135G>C
c.3049G>C (p.Glu1017Gln)
c.*2292G>C (n.*2292G>C)
n.3318G>C
c.2695G>C (p.Glu899Gln)
c.3130G>C (p.Glu1044Gln)
c.1933G>C (p.Glu645Gln)
c.829G>C (p.Glu277Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367023G=CA2392640230PCNTc.*1545G= (n.*1545G=)
n.3135G=
c.3049G= (p.Glu1017=)
c.*2292G= (n.*2292G=)
n.3318G=
c.2695G= (p.Glu899=)
c.3130G= (p.Glu1044=)
c.1933G= (p.Glu645=)
c.829G= (p.Glu277=)
21g.46367023G>TCA410570200PCNTc.*1545G>T (n.*1545G>T)
n.3135G>T
c.3049G>T (p.Glu1017Ter)
c.*2292G>T (n.*2292G>T)
n.3318G>T
c.2695G>T (p.Glu899Ter)
c.3130G>T (p.Glu1044Ter)
c.1933G>T (p.Glu645Ter)
c.829G>T (p.Glu277Ter)
21g.46367024A=CA2392640231PCNTc.*1546A= (n.*1546A=)
n.3136A=
c.3050A= (p.Glu1017=)
c.*2293A= (n.*2293A=)
n.3319A=
c.2696A= (p.Glu899=)
c.3131A= (p.Glu1044=)
c.1934A= (p.Glu645=)
c.830A= (p.Glu277=)
21g.46367024A>CCA410570203PCNTc.*1546A>C (n.*1546A>C)
n.3136A>C
c.3050A>C (p.Glu1017Ala)
c.*2293A>C (n.*2293A>C)
n.3319A>C
c.2696A>C (p.Glu899Ala)
c.3131A>C (p.Glu1044Ala)
c.1934A>C (p.Glu645Ala)
c.830A>C (p.Glu277Ala)
21g.46367024A>GCA10079160PCNTc.*1546A>G (n.*1546A>G)
n.3136A>G
c.3050A>G (p.Glu1017Gly)
c.*2293A>G (n.*2293A>G)
n.3319A>G
c.2696A>G (p.Glu899Gly)
c.3131A>G (p.Glu1044Gly)
c.1934A>G (p.Glu645Gly)
c.830A>G (p.Glu277Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367024A>TCA410570207PCNTc.*1546A>T (n.*1546A>T)
n.3136A>T
c.3050A>T (p.Glu1017Val)
c.*2293A>T (n.*2293A>T)
n.3319A>T
c.2696A>T (p.Glu899Val)
c.3131A>T (p.Glu1044Val)
c.1934A>T (p.Glu645Val)
c.830A>T (p.Glu277Val)
21g.46367025G>ACA512734422PCNTc.*1547G>A (n.*1547G>A)
n.3137G>A
c.3051G>A (p.Glu1017=)
c.*2294G>A (n.*2294G>A)
n.3320G>A
c.2697G>A (p.Glu899=)
c.3132G>A (p.Glu1044=)
c.1935G>A (p.Glu645=)
c.831G>A (p.Glu277=)
 COSMIC
21g.46367025G>CCA410570209PCNTc.*1547G>C (n.*1547G>C)
n.3137G>C
c.3051G>C (p.Glu1017Asp)
c.*2294G>C (n.*2294G>C)
n.3320G>C
c.2697G>C (p.Glu899Asp)
c.3132G>C (p.Glu1044Asp)
c.1935G>C (p.Glu645Asp)
c.831G>C (p.Glu277Asp)
 dbSNP gnomAD v2 gnomAD v4
21g.46367025G=CA2392640232PCNTc.*1547G= (n.*1547G=)
n.3137G=
c.3051G= (p.Glu1017=)
c.*2294G= (n.*2294G=)
n.3320G=
c.2697G= (p.Glu899=)
c.3132G= (p.Glu1044=)
c.1935G= (p.Glu645=)
c.831G= (p.Glu277=)
21g.46367025G>TCA410570212PCNTc.*1547G>T (n.*1547G>T)
n.3137G>T
c.3051G>T (p.Glu1017Asp)
c.*2294G>T (n.*2294G>T)
n.3320G>T
c.2697G>T (p.Glu899Asp)
c.3132G>T (p.Glu1044Asp)
c.1935G>T (p.Glu645Asp)
c.831G>T (p.Glu277Asp)
21g.46367026A>CCA410570213PCNTc.*1548A>C (n.*1548A>C)
n.3138A>C
c.3052A>C (p.Lys1018Gln)
c.*2295A>C (n.*2295A>C)
n.3321A>C
c.2698A>C (p.Lys900Gln)
c.3133A>C (p.Lys1045Gln)
c.1936A>C (p.Lys646Gln)
c.832A>C (p.Lys278Gln)
21g.46367026A>GCA410570216PCNTc.*1548A>G (n.*1548A>G)
n.3138A>G
c.3052A>G (p.Lys1018Glu)
c.*2295A>G (n.*2295A>G)
n.3321A>G
c.2698A>G (p.Lys900Glu)
c.3133A>G (p.Lys1045Glu)
c.1936A>G (p.Lys646Glu)
c.832A>G (p.Lys278Glu)
21g.46367026A>TCA410570219PCNTc.*1548A>T (n.*1548A>T)
n.3138A>T
c.3052A>T (p.Lys1018Ter)
c.*2295A>T (n.*2295A>T)
n.3321A>T
c.2698A>T (p.Lys900Ter)
c.3133A>T (p.Lys1045Ter)
c.1936A>T (p.Lys646Ter)
c.832A>T (p.Lys278Ter)
21g.46367027A>CCA410570226PCNTc.*1549A>C (n.*1549A>C)
n.3139A>C
c.3053A>C (p.Lys1018Thr)
c.*2296A>C (n.*2296A>C)
n.3322A>C
c.2699A>C (p.Lys900Thr)
c.3134A>C (p.Lys1045Thr)
c.1937A>C (p.Lys646Thr)
c.833A>C (p.Lys278Thr)
21g.46367027A>GCA410570224PCNTc.*1549A>G (n.*1549A>G)
n.3139A>G
c.3053A>G (p.Lys1018Arg)
c.*2296A>G (n.*2296A>G)
n.3322A>G
c.2699A>G (p.Lys900Arg)
c.3134A>G (p.Lys1045Arg)
c.1937A>G (p.Lys646Arg)
c.833A>G (p.Lys278Arg)
21g.46367027A>TCA410570221PCNTc.*1549A>T (n.*1549A>T)
n.3139A>T
c.3053A>T (p.Lys1018Ile)
c.*2296A>T (n.*2296A>T)
n.3322A>T
c.2699A>T (p.Lys900Ile)
c.3134A>T (p.Lys1045Ile)
c.1937A>T (p.Lys646Ile)
c.833A>T (p.Lys278Ile)
21g.46367028A>CCA410570228PCNTc.*1550A>C (n.*1550A>C)
n.3140A>C
c.3054A>C (p.Lys1018Asn)
c.*2297A>C (n.*2297A>C)
n.3323A>C
c.2700A>C (p.Lys900Asn)
c.3135A>C (p.Lys1045Asn)
c.1938A>C (p.Lys646Asn)
c.834A>C (p.Lys278Asn)
21g.46367028A>GCA512734426PCNTc.*1550A>G (n.*1550A>G)
n.3140A>G
c.3054A>G (p.Lys1018=)
c.*2297A>G (n.*2297A>G)
n.3323A>G
c.2700A>G (p.Lys900=)
c.3135A>G (p.Lys1045=)
c.1938A>G (p.Lys646=)
c.834A>G (p.Lys278=)
 ClinVar gnomAD v4
21g.46367028A>TCA410570230PCNTc.*1550A>T (n.*1550A>T)
n.3140A>T
c.3054A>T (p.Lys1018Asn)
c.*2297A>T (n.*2297A>T)
n.3323A>T
c.2700A>T (p.Lys900Asn)
c.3135A>T (p.Lys1045Asn)
c.1938A>T (p.Lys646Asn)
c.834A>T (p.Lys278Asn)
21g.46367029C>ACA410570234PCNTc.*1551C>A (n.*1551C>A)
n.3141C>A
c.3055C>A (p.Leu1019Met)
c.*2298C>A (n.*2298C>A)
n.3324C>A
c.2701C>A (p.Leu901Met)
c.3136C>A (p.Leu1046Met)
c.1939C>A (p.Leu647Met)
c.835C>A (p.Leu279Met)
 gnomAD v4
21g.46367029C>GCA410570236PCNTc.*1551C>G (n.*1551C>G)
n.3141C>G
c.3055C>G (p.Leu1019Val)
c.*2298C>G (n.*2298C>G)
n.3324C>G
c.2701C>G (p.Leu901Val)
c.3136C>G (p.Leu1046Val)
c.1939C>G (p.Leu647Val)
c.835C>G (p.Leu279Val)
21g.46367029C>TCA512734430PCNTc.*1551C>T (n.*1551C>T)
n.3141C>T
c.3055C>T (p.Leu1019=)
c.*2298C>T (n.*2298C>T)
n.3324C>T
c.2701C>T (p.Leu901=)
c.3136C>T (p.Leu1046=)
c.1939C>T (p.Leu647=)
c.835C>T (p.Leu279=)
21g.46367029_46367031delinsCTGCA2392640233PCNTc.*1551_*1553delinsCTG (n.*1551_*1553delinsCTG)
n.3141_3143delinsCTG
c.3055_3057delinsCTG (p.Leu1019=)
c.*2298_*2300delinsCTG (n.*2298_*2300delinsCTG)
n.3324_3326delinsCTG
c.2701_2703delinsCTG (p.Leu901=)
c.3136_3138delinsCTG (p.Leu1046=)
c.1939_1941delinsCTG (p.Leu647=)
c.835_837delinsCTG (p.Leu279=)
21g.46367030T>ACA410570237PCNTc.*1552T>A (n.*1552T>A)
n.3142T>A
c.3056T>A (p.Leu1019Gln)
c.*2299T>A (n.*2299T>A)
n.3325T>A
c.2702T>A (p.Leu901Gln)
c.3137T>A (p.Leu1046Gln)
c.1940T>A (p.Leu647Gln)
c.836T>A (p.Leu279Gln)
21g.46367030T>CCA410570239PCNTc.*1552T>C (n.*1552T>C)
n.3142T>C
c.3056T>C (p.Leu1019Pro)
c.*2299T>C (n.*2299T>C)
n.3325T>C
c.2702T>C (p.Leu901Pro)
c.3137T>C (p.Leu1046Pro)
c.1940T>C (p.Leu647Pro)
c.836T>C (p.Leu279Pro)
 dbSNP gnomAD v4
21g.46367030T>GCA410570242PCNTc.*1552T>G (n.*1552T>G)
n.3142T>G
c.3056T>G (p.Leu1019Arg)
c.*2299T>G (n.*2299T>G)
n.3325T>G
c.2702T>G (p.Leu901Arg)
c.3137T>G (p.Leu1046Arg)
c.1940T>G (p.Leu647Arg)
c.836T>G (p.Leu279Arg)
21g.46367030T=CA2392640234PCNTc.*1552T= (n.*1552T=)
n.3142T=
c.3056T= (p.Leu1019=)
c.*2299T= (n.*2299T=)
n.3325T=
c.2702T= (p.Leu901=)
c.3137T= (p.Leu1046=)
c.1940T= (p.Leu647=)
c.836T= (p.Leu279=)
21g.46367030dupCA2655020867PCNTc.*1552dup (n.*1552dup)
n.3142dup
c.3056dup (p.Lys1020GlufsTer?)
c.*2299dup (n.*2299dup)
n.3325dup
c.2702dup (p.Lys902GlufsTer?)
c.3137dup (p.Lys1047GlufsTer?)
c.1940dup (p.Lys648GlufsTer?)
c.836dup (p.Lys280GlufsTer?)
 gnomAD v4
21g.46367030_46367031delCA638200725PCNTc.*1552_*1553del (n.*1552_*1553del)
n.3142_3143del
c.3056_3057del (p.Leu1019GlnfsTer?)
c.*2299_*2300del (n.*2299_*2300del)
n.3325_3326del
c.2702_2703del (p.Leu901GlnfsTer?)
c.3137_3138del (p.Leu1046GlnfsTer?)
c.1940_1941del (p.Leu647GlnfsTer?)
c.836_837del (p.Leu279GlnfsTer?)
 dbSNP gnomAD v2 gnomAD v4
21g.46367031G>ACA512734431PCNTc.*1553G>A (n.*1553G>A)
n.3143G>A
c.3057G>A (p.Leu1019=)
c.*2300G>A (n.*2300G>A)
n.3326G>A
c.2703G>A (p.Leu901=)
c.3138G>A (p.Leu1046=)
c.1941G>A (p.Leu647=)
c.837G>A (p.Leu279=)
 gnomAD v4 COSMIC
21g.46367031G>CCA512734432PCNTc.*1553G>C (n.*1553G>C)
n.3143G>C
c.3057G>C (p.Leu1019=)
c.*2300G>C (n.*2300G>C)
n.3326G>C
c.2703G>C (p.Leu901=)
c.3138G>C (p.Leu1046=)
c.1941G>C (p.Leu647=)
c.837G>C (p.Leu279=)
21g.46367031G>TCA512734433PCNTc.*1553G>T (n.*1553G>T)
n.3143G>T
c.3057G>T (p.Leu1019=)
c.*2300G>T (n.*2300G>T)
n.3326G>T
c.2703G>T (p.Leu901=)
c.3138G>T (p.Leu1046=)
c.1941G>T (p.Leu647=)
c.837G>T (p.Leu279=)
21g.46367032A=CA2392640235PCNTc.*1554A= (n.*1554A=)
n.3144A=
c.3058A= (p.Lys1020=)
c.*2301A= (n.*2301A=)
n.3327A=
c.2704A= (p.Lys902=)
c.3139A= (p.Lys1047=)
c.1942A= (p.Lys648=)
c.838A= (p.Lys280=)
21g.46367032A>CCA410570245PCNTc.*1554A>C (n.*1554A>C)
n.3144A>C
c.3058A>C (p.Lys1020Gln)
c.*2301A>C (n.*2301A>C)
n.3327A>C
c.2704A>C (p.Lys902Gln)
c.3139A>C (p.Lys1047Gln)
c.1942A>C (p.Lys648Gln)
c.838A>C (p.Lys280Gln)
21g.46367032A>GCA410570246PCNTc.*1554A>G (n.*1554A>G)
n.3144A>G
c.3058A>G (p.Lys1020Glu)
c.*2301A>G (n.*2301A>G)
n.3327A>G
c.2704A>G (p.Lys902Glu)
c.3139A>G (p.Lys1047Glu)
c.1942A>G (p.Lys648Glu)
c.838A>G (p.Lys280Glu)
21g.46367032A>TCA410570248PCNTc.*1554A>T (n.*1554A>T)
n.3144A>T
c.3058A>T (p.Lys1020Ter)
c.*2301A>T (n.*2301A>T)
n.3327A>T
c.2704A>T (p.Lys902Ter)
c.3139A>T (p.Lys1047Ter)
c.1942A>T (p.Lys648Ter)
c.838A>T (p.Lys280Ter)
 ClinVar dbSNP
21g.46367033A>CCA410570250PCNTc.*1555A>C (n.*1555A>C)
n.3145A>C
c.3059A>C (p.Lys1020Thr)
c.*2302A>C (n.*2302A>C)
n.3328A>C
c.2705A>C (p.Lys902Thr)
c.3140A>C (p.Lys1047Thr)
c.1943A>C (p.Lys648Thr)
c.839A>C (p.Lys280Thr)
21g.46367033A>GCA410570251PCNTc.*1555A>G (n.*1555A>G)
n.3145A>G
c.3059A>G (p.Lys1020Arg)
c.*2302A>G (n.*2302A>G)
n.3328A>G
c.2705A>G (p.Lys902Arg)
c.3140A>G (p.Lys1047Arg)
c.1943A>G (p.Lys648Arg)
c.839A>G (p.Lys280Arg)
21g.46367033A>TCA410570254PCNTc.*1555A>T (n.*1555A>T)
n.3145A>T
c.3059A>T (p.Lys1020Met)
c.*2302A>T (n.*2302A>T)
n.3328A>T
c.2705A>T (p.Lys902Met)
c.3140A>T (p.Lys1047Met)
c.1943A>T (p.Lys648Met)
c.839A>T (p.Lys280Met)
21g.46367034G>ACA512734435PCNTc.*1556G>A (n.*1556G>A)
n.3146G>A
c.3060G>A (p.Lys1020=)
c.*2303G>A (n.*2303G>A)
n.3329G>A
c.2706G>A (p.Lys902=)
c.3141G>A (p.Lys1047=)
c.1944G>A (p.Lys648=)
c.840G>A (p.Lys280=)
 gnomAD v4
21g.46367034G>CCA410570258PCNTc.*1556G>C (n.*1556G>C)
n.3146G>C
c.3060G>C (p.Lys1020Asn)
c.*2303G>C (n.*2303G>C)
n.3329G>C
c.2706G>C (p.Lys902Asn)
c.3141G>C (p.Lys1047Asn)
c.1944G>C (p.Lys648Asn)
c.840G>C (p.Lys280Asn)
21g.46367034G>TCA410570260PCNTc.*1556G>T (n.*1556G>T)
n.3146G>T
c.3060G>T (p.Lys1020Asn)
c.*2303G>T (n.*2303G>T)
n.3329G>T
c.2706G>T (p.Lys902Asn)
c.3141G>T (p.Lys1047Asn)
c.1944G>T (p.Lys648Asn)
c.840G>T (p.Lys280Asn)
21g.46367035C>ACA512734436PCNTc.*1557C>A (n.*1557C>A)
n.3147C>A
c.3061C>A (p.Arg1021=)
c.*2304C>A (n.*2304C>A)
n.3330C>A
c.2707C>A (p.Arg903=)
c.3142C>A (p.Arg1048=)
c.1945C>A (p.Arg649=)
c.841C>A (p.Arg281=)
21g.46367035C=CA2392640236PCNTc.*1557C= (n.*1557C=)
n.3147C=
c.3061C= (p.Arg1021=)
c.*2304C= (n.*2304C=)
n.3330C=
c.2707C= (p.Arg903=)
c.3142C= (p.Arg1048=)
c.1945C= (p.Arg649=)
c.841C= (p.Arg281=)
21g.46367035C>GCA410570264PCNTc.*1557C>G (n.*1557C>G)
n.3147C>G
c.3061C>G (p.Arg1021Gly)
c.*2304C>G (n.*2304C>G)
n.3330C>G
c.2707C>G (p.Arg903Gly)
c.3142C>G (p.Arg1048Gly)
c.1945C>G (p.Arg649Gly)
c.841C>G (p.Arg281Gly)
21g.46367035C>TCA10079161PCNTc.*1557C>T (n.*1557C>T)
n.3147C>T
c.3061C>T (p.Arg1021Trp)
c.*2304C>T (n.*2304C>T)
n.3330C>T
c.2707C>T (p.Arg903Trp)
c.3142C>T (p.Arg1048Trp)
c.1945C>T (p.Arg649Trp)
c.841C>T (p.Arg281Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367036G>ACA10079162PCNTc.*1558G>A (n.*1558G>A)
n.3148G>A
c.3062G>A (p.Arg1021Gln)
c.*2305G>A (n.*2305G>A)
n.3331G>A
c.2708G>A (p.Arg903Gln)
c.3143G>A (p.Arg1048Gln)
c.1946G>A (p.Arg649Gln)
c.842G>A (p.Arg281Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367036G>CCA410570267PCNTc.*1558G>C (n.*1558G>C)
n.3148G>C
c.3062G>C (p.Arg1021Pro)
c.*2305G>C (n.*2305G>C)
n.3331G>C
c.2708G>C (p.Arg903Pro)
c.3143G>C (p.Arg1048Pro)
c.1946G>C (p.Arg649Pro)
c.842G>C (p.Arg281Pro)
21g.46367036G=CA2392640237PCNTc.*1558G= (n.*1558G=)
n.3148G=
c.3062G= (p.Arg1021=)
c.*2305G= (n.*2305G=)
n.3331G=
c.2708G= (p.Arg903=)
c.3143G= (p.Arg1048=)
c.1946G= (p.Arg649=)
c.842G= (p.Arg281=)
21g.46367036G>TCA410570269PCNTc.*1558G>T (n.*1558G>T)
n.3148G>T
c.3062G>T (p.Arg1021Leu)
c.*2305G>T (n.*2305G>T)
n.3331G>T
c.2708G>T (p.Arg903Leu)
c.3143G>T (p.Arg1048Leu)
c.1946G>T (p.Arg649Leu)
c.842G>T (p.Arg281Leu)
21g.46367037G>ACA512734438PCNTc.*1559G>A (n.*1559G>A)
n.3149G>A
c.3063G>A (p.Arg1021=)
c.*2306G>A (n.*2306G>A)
n.3332G>A
c.2709G>A (p.Arg903=)
c.3144G>A (p.Arg1048=)
c.1947G>A (p.Arg649=)
c.843G>A (p.Arg281=)
21g.46367037G>CCA512734439PCNTc.*1559G>C (n.*1559G>C)
n.3149G>C
c.3063G>C (p.Arg1021=)
c.*2306G>C (n.*2306G>C)
n.3332G>C
c.2709G>C (p.Arg903=)
c.3144G>C (p.Arg1048=)
c.1947G>C (p.Arg649=)
c.843G>C (p.Arg281=)
21g.46367037G>TCA512734440PCNTc.*1559G>T (n.*1559G>T)
n.3149G>T
c.3063G>T (p.Arg1021=)
c.*2306G>T (n.*2306G>T)
n.3332G>T
c.2709G>T (p.Arg903=)
c.3144G>T (p.Arg1048=)
c.1947G>T (p.Arg649=)
c.843G>T (p.Arg281=)
21g.46367038A>CCA410570271PCNTc.*1560A>C (n.*1560A>C)
n.3150A>C
c.3064A>C (p.Lys1022Gln)
c.*2307A>C (n.*2307A>C)
n.3333A>C
c.2710A>C (p.Lys904Gln)
c.3145A>C (p.Lys1049Gln)
c.1948A>C (p.Lys650Gln)
c.844A>C (p.Lys282Gln)
21g.46367038A>GCA410570274PCNTc.*1560A>G (n.*1560A>G)
n.3150A>G
c.3064A>G (p.Lys1022Glu)
c.*2307A>G (n.*2307A>G)
n.3333A>G
c.2710A>G (p.Lys904Glu)
c.3145A>G (p.Lys1049Glu)
c.1948A>G (p.Lys650Glu)
c.844A>G (p.Lys282Glu)
 ClinVar gnomAD v4
21g.46367038A>TCA410570276PCNTc.*1560A>T (n.*1560A>T)
n.3150A>T
c.3064A>T (p.Lys1022Ter)
c.*2307A>T (n.*2307A>T)
n.3333A>T
c.2710A>T (p.Lys904Ter)
c.3145A>T (p.Lys1049Ter)
c.1948A>T (p.Lys650Ter)
c.844A>T (p.Lys282Ter)
21g.46367039A>CCA410570280PCNTc.*1561A>C (n.*1561A>C)
n.3151A>C
c.3065A>C (p.Lys1022Thr)
c.*2308A>C (n.*2308A>C)
n.3334A>C
c.2711A>C (p.Lys904Thr)
c.3146A>C (p.Lys1049Thr)
c.1949A>C (p.Lys650Thr)
c.845A>C (p.Lys282Thr)
21g.46367039A>GCA410570282PCNTc.*1561A>G (n.*1561A>G)
n.3151A>G
c.3065A>G (p.Lys1022Arg)
c.*2308A>G (n.*2308A>G)
n.3334A>G
c.2711A>G (p.Lys904Arg)
c.3146A>G (p.Lys1049Arg)
c.1949A>G (p.Lys650Arg)
c.845A>G (p.Lys282Arg)
21g.46367039A>TCA410570285PCNTc.*1561A>T (n.*1561A>T)
n.3151A>T
c.3065A>T (p.Lys1022Ile)
c.*2308A>T (n.*2308A>T)
n.3334A>T
c.2711A>T (p.Lys904Ile)
c.3146A>T (p.Lys1049Ile)
c.1949A>T (p.Lys650Ile)
c.845A>T (p.Lys282Ile)
21g.46367040A=CA2392640238PCNTc.*1562A= (n.*1562A=)
n.3152A=
c.3066A= (p.Lys1022=)
c.*2309A= (n.*2309A=)
n.3335A=
c.2712A= (p.Lys904=)
c.3147A= (p.Lys1049=)
c.1950A= (p.Lys650=)
c.846A= (p.Lys282=)
21g.46367040A>CCA410570292PCNTc.*1562A>C (n.*1562A>C)
n.3152A>C
c.3066A>C (p.Lys1022Asn)
c.*2309A>C (n.*2309A>C)
n.3335A>C
c.2712A>C (p.Lys904Asn)
c.3147A>C (p.Lys1049Asn)
c.1950A>C (p.Lys650Asn)
c.846A>C (p.Lys282Asn)
21g.46367040A>GCA10079163PCNTc.*1562A>G (n.*1562A>G)
n.3152A>G
c.3066A>G (p.Lys1022=)
c.*2309A>G (n.*2309A>G)
n.3335A>G
c.2712A>G (p.Lys904=)
c.3147A>G (p.Lys1049=)
c.1950A>G (p.Lys650=)
c.846A>G (p.Lys282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367040A>TCA410570288PCNTc.*1562A>T (n.*1562A>T)
n.3152A>T
c.3066A>T (p.Lys1022Asn)
c.*2309A>T (n.*2309A>T)
n.3335A>T
c.2712A>T (p.Lys904Asn)
c.3147A>T (p.Lys1049Asn)
c.1950A>T (p.Lys650Asn)
c.846A>T (p.Lys282Asn)
21g.46367041C>ACA410570294PCNTc.*1563C>A (n.*1563C>A)
n.3153C>A
c.3067C>A (p.His1023Asn)
c.*2310C>A (n.*2310C>A)
n.3336C>A
c.2713C>A (p.His905Asn)
c.3148C>A (p.His1050Asn)
c.1951C>A (p.His651Asn)
c.847C>A (p.His283Asn)
21g.46367041C=CA2392640239PCNTc.*1563C= (n.*1563C=)
n.3153C=
c.3067C= (p.His1023=)
c.*2310C= (n.*2310C=)
n.3336C=
c.2713C= (p.His905=)
c.3148C= (p.His1050=)
c.1951C= (p.His651=)
c.847C= (p.His283=)
21g.46367041C>GCA410570299PCNTc.*1563C>G (n.*1563C>G)
n.3153C>G
c.3067C>G (p.His1023Asp)
c.*2310C>G (n.*2310C>G)
n.3336C>G
c.2713C>G (p.His905Asp)
c.3148C>G (p.His1050Asp)
c.1951C>G (p.His651Asp)
c.847C>G (p.His283Asp)
21g.46367041C>TCA10079164PCNTc.*1563C>T (n.*1563C>T)
n.3153C>T
c.3067C>T (p.His1023Tyr)
c.*2310C>T (n.*2310C>T)
n.3336C>T
c.2713C>T (p.His905Tyr)
c.3148C>T (p.His1050Tyr)
c.1951C>T (p.His651Tyr)
c.847C>T (p.His283Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367042A>CCA410570302PCNTc.*1564A>C (n.*1564A>C)
n.3154A>C
c.3068A>C (p.His1023Pro)
c.*2311A>C (n.*2311A>C)
n.3337A>C
c.2714A>C (p.His905Pro)
c.3149A>C (p.His1050Pro)
c.1952A>C (p.His651Pro)
c.848A>C (p.His283Pro)
21g.46367042A>GCA410570303PCNTc.*1564A>G (n.*1564A>G)
n.3154A>G
c.3068A>G (p.His1023Arg)
c.*2311A>G (n.*2311A>G)
n.3337A>G
c.2714A>G (p.His905Arg)
c.3149A>G (p.His1050Arg)
c.1952A>G (p.His651Arg)
c.848A>G (p.His283Arg)
 gnomAD v4
21g.46367042A>TCA410570305PCNTc.*1564A>T (n.*1564A>T)
n.3154A>T
c.3068A>T (p.His1023Leu)
c.*2311A>T (n.*2311A>T)
n.3337A>T
c.2714A>T (p.His905Leu)
c.3149A>T (p.His1050Leu)
c.1952A>T (p.His651Leu)
c.848A>T (p.His283Leu)
21g.46367043C>ACA410570307PCNTc.*1565C>A (n.*1565C>A)
n.3155C>A
c.3069C>A (p.His1023Gln)
c.*2312C>A (n.*2312C>A)
n.3338C>A
c.2715C>A (p.His905Gln)
c.3150C>A (p.His1050Gln)
c.1953C>A (p.His651Gln)
c.849C>A (p.His283Gln)
21g.46367043C=CA2392640240PCNTc.*1565C= (n.*1565C=)
n.3155C=
c.3069C= (p.His1023=)
c.*2312C= (n.*2312C=)
n.3338C=
c.2715C= (p.His905=)
c.3150C= (p.His1050=)
c.1953C= (p.His651=)
c.849C= (p.His283=)
21g.46367043C>GCA410570308PCNTc.*1565C>G (n.*1565C>G)
n.3155C>G
c.3069C>G (p.His1023Gln)
c.*2312C>G (n.*2312C>G)
n.3338C>G
c.2715C>G (p.His905Gln)
c.3150C>G (p.His1050Gln)
c.1953C>G (p.His651Gln)
c.849C>G (p.His283Gln)
 dbSNP gnomAD v2 gnomAD v4
21g.46367043C>TCA10079165PCNTc.*1565C>T (n.*1565C>T)
n.3155C>T
c.3069C>T (p.His1023=)
c.*2312C>T (n.*2312C>T)
n.3338C>T
c.2715C>T (p.His905=)
c.3150C>T (p.His1050=)
c.1953C>T (p.His651=)
c.849C>T (p.His283=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367044G>ACA10079166PCNTc.*1566G>A (n.*1566G>A)
n.3156G>A
c.3070G>A (p.Glu1024Lys)
c.*2313G>A (n.*2313G>A)
n.3339G>A
c.2716G>A (p.Glu906Lys)
c.3151G>A (p.Glu1051Lys)
c.1954G>A (p.Glu652Lys)
c.850G>A (p.Glu284Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367044G>CCA410570312PCNTc.*1566G>C (n.*1566G>C)
n.3156G>C
c.3070G>C (p.Glu1024Gln)
c.*2313G>C (n.*2313G>C)
n.3339G>C
c.2716G>C (p.Glu906Gln)
c.3151G>C (p.Glu1051Gln)
c.1954G>C (p.Glu652Gln)
c.850G>C (p.Glu284Gln)
21g.46367044G=CA2392640241PCNTc.*1566G= (n.*1566G=)
n.3156G=
c.3070G= (p.Glu1024=)
c.*2313G= (n.*2313G=)
n.3339G=
c.2716G= (p.Glu906=)
c.3151G= (p.Glu1051=)
c.1954G= (p.Glu652=)
c.850G= (p.Glu284=)
21g.46367044G>TCA410570313PCNTc.*1566G>T (n.*1566G>T)
n.3156G>T
c.3070G>T (p.Glu1024Ter)
c.*2313G>T (n.*2313G>T)
n.3339G>T
c.2716G>T (p.Glu906Ter)
c.3151G>T (p.Glu1051Ter)
c.1954G>T (p.Glu652Ter)
c.850G>T (p.Glu284Ter)
 gnomAD v4
21g.46367045A>CCA410570317PCNTc.*1567A>C (n.*1567A>C)
n.3157A>C
c.3071A>C (p.Glu1024Ala)
c.*2314A>C (n.*2314A>C)
n.3340A>C
c.2717A>C (p.Glu906Ala)
c.3152A>C (p.Glu1051Ala)
c.1955A>C (p.Glu652Ala)
c.851A>C (p.Glu284Ala)
21g.46367045A>GCA410570318PCNTc.*1567A>G (n.*1567A>G)
n.3157A>G
c.3071A>G (p.Glu1024Gly)
c.*2314A>G (n.*2314A>G)
n.3340A>G
c.2717A>G (p.Glu906Gly)
c.3152A>G (p.Glu1051Gly)
c.1955A>G (p.Glu652Gly)
c.851A>G (p.Glu284Gly)
21g.46367045A>TCA410570320PCNTc.*1567A>T (n.*1567A>T)
n.3157A>T
c.3071A>T (p.Glu1024Val)
c.*2314A>T (n.*2314A>T)
n.3340A>T
c.2717A>T (p.Glu906Val)
c.3152A>T (p.Glu1051Val)
c.1955A>T (p.Glu652Val)
c.851A>T (p.Glu284Val)
 gnomAD v4
21g.46367046A>CCA410570325PCNTc.*1568A>C (n.*1568A>C)
n.3158A>C
c.3072A>C (p.Glu1024Asp)
c.*2315A>C (n.*2315A>C)
n.3341A>C
c.2718A>C (p.Glu906Asp)
c.3153A>C (p.Glu1051Asp)
c.1956A>C (p.Glu652Asp)
c.852A>C (p.Glu284Asp)
 dbSNP
21g.46367046A>GCA512734447PCNTc.*1568A>G (n.*1568A>G)
n.3158A>G
c.3072A>G (p.Glu1024=)
c.*2315A>G (n.*2315A>G)
n.3341A>G
c.2718A>G (p.Glu906=)
c.3153A>G (p.Glu1051=)
c.1956A>G (p.Glu652=)
c.852A>G (p.Glu284=)
21g.46367046A>TCA410570323PCNTc.*1568A>T (n.*1568A>T)
n.3158A>T
c.3072A>T (p.Glu1024Asp)
c.*2315A>T (n.*2315A>T)
n.3341A>T
c.2718A>T (p.Glu906Asp)
c.3153A>T (p.Glu1051Asp)
c.1956A>T (p.Glu652Asp)
c.852A>T (p.Glu284Asp)
21g.46367047G>ACA410570329PCNTc.*1569G>A (n.*1569G>A)
n.3159G>A
c.3073G>A (p.Gly1025Arg)
c.*2316G>A (n.*2316G>A)
n.3342G>A
c.2719G>A (p.Gly907Arg)
c.3154G>A (p.Gly1052Arg)
c.1957G>A (p.Gly653Arg)
c.853G>A (p.Gly285Arg)
 dbSNP
21g.46367047G>CCA410570332PCNTc.*1569G>C (n.*1569G>C)
n.3159G>C
c.3073G>C (p.Gly1025Arg)
c.*2316G>C (n.*2316G>C)
n.3342G>C
c.2719G>C (p.Gly907Arg)
c.3154G>C (p.Gly1052Arg)
c.1957G>C (p.Gly653Arg)
c.853G>C (p.Gly285Arg)
21g.46367047G=CA2392640242PCNTc.*1569G= (n.*1569G=)
n.3159G=
c.3073G= (p.Gly1025=)
c.*2316G= (n.*2316G=)
n.3342G=
c.2719G= (p.Gly907=)
c.3154G= (p.Gly1052=)
c.1957G= (p.Gly653=)
c.853G= (p.Gly285=)
21g.46367047G>TCA410570335PCNTc.*1569G>T (n.*1569G>T)
n.3159G>T
c.3073G>T (p.Gly1025Trp)
c.*2316G>T (n.*2316G>T)
n.3342G>T
c.2719G>T (p.Gly907Trp)
c.3154G>T (p.Gly1052Trp)
c.1957G>T (p.Gly653Trp)
c.853G>T (p.Gly285Trp)
21g.46367048G>ACA410570339PCNTc.*1570G>A (n.*1570G>A)
n.3160G>A
c.3074G>A (p.Gly1025Glu)
c.*2317G>A (n.*2317G>A)
n.3343G>A
c.2720G>A (p.Gly907Glu)
c.3155G>A (p.Gly1052Glu)
c.1958G>A (p.Gly653Glu)
c.854G>A (p.Gly285Glu)
21g.46367048G>CCA410570342PCNTc.*1570G>C (n.*1570G>C)
n.3160G>C
c.3074G>C (p.Gly1025Ala)
c.*2317G>C (n.*2317G>C)
n.3343G>C
c.2720G>C (p.Gly907Ala)
c.3155G>C (p.Gly1052Ala)
c.1958G>C (p.Gly653Ala)
c.854G>C (p.Gly285Ala)
21g.46367048G>TCA410570344PCNTc.*1570G>T (n.*1570G>T)
n.3160G>T
c.3074G>T (p.Gly1025Val)
c.*2317G>T (n.*2317G>T)
n.3343G>T
c.2720G>T (p.Gly907Val)
c.3155G>T (p.Gly1052Val)
c.1958G>T (p.Gly653Val)
c.854G>T (p.Gly285Val)
21g.46367049G>ACA512734453PCNTc.*1571G>A (n.*1571G>A)
n.3161G>A
c.3075G>A (p.Gly1025=)
c.*2318G>A (n.*2318G>A)
n.3344G>A
c.2721G>A (p.Gly907=)
c.3156G>A (p.Gly1052=)
c.1959G>A (p.Gly653=)
c.855G>A (p.Gly285=)
21g.46367049G>CCA512734455PCNTc.*1571G>C (n.*1571G>C)
n.3161G>C
c.3075G>C (p.Gly1025=)
c.*2318G>C (n.*2318G>C)
n.3344G>C
c.2721G>C (p.Gly907=)
c.3156G>C (p.Gly1052=)
c.1959G>C (p.Gly653=)
c.855G>C (p.Gly285=)
21g.46367049G>TCA512734456PCNTc.*1571G>T (n.*1571G>T)
n.3161G>T
c.3075G>T (p.Gly1025=)
c.*2318G>T (n.*2318G>T)
n.3344G>T
c.2721G>T (p.Gly907=)
c.3156G>T (p.Gly1052=)
c.1959G>T (p.Gly653=)
c.855G>T (p.Gly285=)
21g.46367050G>ACA410570347PCNTc.*1572G>A (n.*1572G>A)
n.3162G>A
c.3076G>A (p.Glu1026Lys)
c.*2319G>A (n.*2319G>A)
n.3345G>A
c.2722G>A (p.Glu908Lys)
c.3157G>A (p.Glu1053Lys)
c.1960G>A (p.Glu654Lys)
c.856G>A (p.Glu286Lys)
21g.46367050G>CCA410570349PCNTc.*1572G>C (n.*1572G>C)
n.3162G>C
c.3076G>C (p.Glu1026Gln)
c.*2319G>C (n.*2319G>C)
n.3345G>C
c.2722G>C (p.Glu908Gln)
c.3157G>C (p.Glu1053Gln)
c.1960G>C (p.Glu654Gln)
c.856G>C (p.Glu286Gln)
21g.46367050G>TCA410570360PCNTc.*1572G>T (n.*1572G>T)
n.3162G>T
c.3076G>T (p.Glu1026Ter)
c.*2319G>T (n.*2319G>T)
n.3345G>T
c.2722G>T (p.Glu908Ter)
c.3157G>T (p.Glu1053Ter)
c.1960G>T (p.Glu654Ter)
c.856G>T (p.Glu286Ter)
21g.46367051A>CCA410570363PCNTc.*1573A>C (n.*1573A>C)
n.3163A>C
c.3077A>C (p.Glu1026Ala)
c.*2320A>C (n.*2320A>C)
n.3346A>C
c.2723A>C (p.Glu908Ala)
c.3158A>C (p.Glu1053Ala)
c.1961A>C (p.Glu654Ala)
c.857A>C (p.Glu286Ala)
21g.46367051A>GCA410570366PCNTc.*1573A>G (n.*1573A>G)
n.3163A>G
c.3077A>G (p.Glu1026Gly)
c.*2320A>G (n.*2320A>G)
n.3346A>G
c.2723A>G (p.Glu908Gly)
c.3158A>G (p.Glu1053Gly)
c.1961A>G (p.Glu654Gly)
c.857A>G (p.Glu286Gly)
21g.46367051A>TCA410570367PCNTc.*1573A>T (n.*1573A>T)
n.3163A>T
c.3077A>T (p.Glu1026Val)
c.*2320A>T (n.*2320A>T)
n.3346A>T
c.2723A>T (p.Glu908Val)
c.3158A>T (p.Glu1053Val)
c.1961A>T (p.Glu654Val)
c.857A>T (p.Glu286Val)
21g.46367052G>ACA512734462PCNTc.*1574G>A (n.*1574G>A)
n.3164G>A
c.3078G>A (p.Glu1026=)
c.*2321G>A (n.*2321G>A)
n.3347G>A
c.2724G>A (p.Glu908=)
c.3159G>A (p.Glu1053=)
c.1962G>A (p.Glu654=)
c.858G>A (p.Glu286=)
 gnomAD v4
21g.46367052G>CCA410570370PCNTc.*1574G>C (n.*1574G>C)
n.3164G>C
c.3078G>C (p.Glu1026Asp)
c.*2321G>C (n.*2321G>C)
n.3347G>C
c.2724G>C (p.Glu908Asp)
c.3159G>C (p.Glu1053Asp)
c.1962G>C (p.Glu654Asp)
c.858G>C (p.Glu286Asp)
21g.46367052G>TCA410570371PCNTc.*1574G>T (n.*1574G>T)
n.3164G>T
c.3078G>T (p.Glu1026Asp)
c.*2321G>T (n.*2321G>T)
n.3347G>T
c.2724G>T (p.Glu908Asp)
c.3159G>T (p.Glu1053Asp)
c.1962G>T (p.Glu654Asp)
c.858G>T (p.Glu286Asp)
21g.46367052dupCA2839847472PCNTc.*1574dup (n.*1574dup)
n.3164dup
c.3078dup (p.Leu1027AlafsTer?)
c.*2321dup (n.*2321dup)
n.3347dup
c.2724dup (p.Leu909AlafsTer?)
c.3159dup (p.Leu1054AlafsTer?)
c.1962dup (p.Leu655AlafsTer?)
c.858dup (p.Leu287AlafsTer?)
21g.46367053C>ACA410570373PCNTc.*1575C>A (n.*1575C>A)
n.3165C>A
c.3079C>A (p.Leu1027Ile)
c.*2322C>A (n.*2322C>A)
n.3348C>A
c.2725C>A (p.Leu909Ile)
c.3160C>A (p.Leu1054Ile)
c.1963C>A (p.Leu655Ile)
c.859C>A (p.Leu287Ile)
21g.46367053C=CA2392640243PCNTc.*1575C= (n.*1575C=)
n.3165C=
c.3079C= (p.Leu1027=)
c.*2322C= (n.*2322C=)
n.3348C=
c.2725C= (p.Leu909=)
c.3160C= (p.Leu1054=)
c.1963C= (p.Leu655=)
c.859C= (p.Leu287=)
21g.46367053C>GCA410570376PCNTc.*1575C>G (n.*1575C>G)
n.3165C>G
c.3079C>G (p.Leu1027Val)
c.*2322C>G (n.*2322C>G)
n.3348C>G
c.2725C>G (p.Leu909Val)
c.3160C>G (p.Leu1054Val)
c.1963C>G (p.Leu655Val)
c.859C>G (p.Leu287Val)
 COSMIC
21g.46367053C>TCA512734465PCNTc.*1575C>T (n.*1575C>T)
n.3165C>T
c.3079C>T (p.Leu1027=)
c.*2322C>T (n.*2322C>T)
n.3348C>T
c.2725C>T (p.Leu909=)
c.3160C>T (p.Leu1054=)
c.1963C>T (p.Leu655=)
c.859C>T (p.Leu287=)
 dbSNP gnomAD v2 gnomAD v4
21g.46367054T>ACA410570378PCNTc.*1576T>A (n.*1576T>A)
n.3166T>A
c.3080T>A (p.Leu1027Gln)
c.*2323T>A (n.*2323T>A)
n.3349T>A
c.2726T>A (p.Leu909Gln)
c.3161T>A (p.Leu1054Gln)
c.1964T>A (p.Leu655Gln)
c.860T>A (p.Leu287Gln)
21g.46367054T>CCA410570381PCNTc.*1576T>C (n.*1576T>C)
n.3166T>C
c.3080T>C (p.Leu1027Pro)
c.*2323T>C (n.*2323T>C)
n.3349T>C
c.2726T>C (p.Leu909Pro)
c.3161T>C (p.Leu1054Pro)
c.1964T>C (p.Leu655Pro)
c.860T>C (p.Leu287Pro)
21g.46367054T>GCA410570383PCNTc.*1576T>G (n.*1576T>G)
n.3166T>G
c.3080T>G (p.Leu1027Arg)
c.*2323T>G (n.*2323T>G)
n.3349T>G
c.2726T>G (p.Leu909Arg)
c.3161T>G (p.Leu1054Arg)
c.1964T>G (p.Leu655Arg)
c.860T>G (p.Leu287Arg)
21g.46367055A=CA2392640244PCNTc.*1577A= (n.*1577A=)
n.3167A=
c.3081A= (p.Leu1027=)
c.*2324A= (n.*2324A=)
n.3350A=
c.2727A= (p.Leu909=)
c.3162A= (p.Leu1054=)
c.1965A= (p.Leu655=)
c.861A= (p.Leu287=)
21g.46367055A>CCA512734467PCNTc.*1577A>C (n.*1577A>C)
n.3167A>C
c.3081A>C (p.Leu1027=)
c.*2324A>C (n.*2324A>C)
n.3350A>C
c.2727A>C (p.Leu909=)
c.3162A>C (p.Leu1054=)
c.1965A>C (p.Leu655=)
c.861A>C (p.Leu287=)
21g.46367055A>GCA322005970PCNTc.*1577A>G (n.*1577A>G)
n.3167A>G
c.3081A>G (p.Leu1027=)
c.*2324A>G (n.*2324A>G)
n.3350A>G
c.2727A>G (p.Leu909=)
c.3162A>G (p.Leu1054=)
c.1965A>G (p.Leu655=)
c.861A>G (p.Leu287=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46367055A>TCA512734468PCNTc.*1577A>T (n.*1577A>T)
n.3167A>T
c.3081A>T (p.Leu1027=)
c.*2324A>T (n.*2324A>T)
n.3350A>T
c.2727A>T (p.Leu909=)
c.3162A>T (p.Leu1054=)
c.1965A>T (p.Leu655=)
c.861A>T (p.Leu287=)
21g.46367056_46367057delCA2655020868PCNTc.*1578_*1579del (n.*1578_*1579del)
n.3168_3169del
c.3082_3083del (p.Gln1028ValfsTer29)
c.*2325_*2326del (n.*2325_*2326del)
n.3351_3352del
c.2728_2729del (p.Gln910ValfsTer29)
c.3163_3164del (p.Gln1055ValfsTer29)
c.1966_1967del (p.Gln656ValfsTer29)
c.862_863del (p.Gln288ValfsTer29)
 gnomAD v4
21g.46367056C>ACA410570391PCNTc.*1578C>A (n.*1578C>A)
n.3168C>A
c.3082C>A (p.Gln1028Lys)
c.*2325C>A (n.*2325C>A)
n.3351C>A
c.2728C>A (p.Gln910Lys)
c.3163C>A (p.Gln1055Lys)
c.1966C>A (p.Gln656Lys)
c.862C>A (p.Gln288Lys)
21g.46367056C>GCA410570388PCNTc.*1578C>G (n.*1578C>G)
n.3168C>G
c.3082C>G (p.Gln1028Glu)
c.*2325C>G (n.*2325C>G)
n.3351C>G
c.2728C>G (p.Gln910Glu)
c.3163C>G (p.Gln1055Glu)
c.1966C>G (p.Gln656Glu)
c.862C>G (p.Gln288Glu)
21g.46367056C>TCA410570390PCNTc.*1578C>T (n.*1578C>T)
n.3168C>T
c.3082C>T (p.Gln1028Ter)
c.*2325C>T (n.*2325C>T)
n.3351C>T
c.2728C>T (p.Gln910Ter)
c.3163C>T (p.Gln1055Ter)
c.1966C>T (p.Gln656Ter)
c.862C>T (p.Gln288Ter)
 gnomAD v4
21g.46367057A=CA2392640245PCNTc.*1579A= (n.*1579A=)
n.3169A=
c.3083A= (p.Gln1028=)
c.*2326A= (n.*2326A=)
n.3352A=
c.2729A= (p.Gln910=)
c.3164A= (p.Gln1055=)
c.1967A= (p.Gln656=)
c.863A= (p.Gln288=)
21g.46367057A>CCA410570394PCNTc.*1579A>C (n.*1579A>C)
n.3169A>C
c.3083A>C (p.Gln1028Pro)
c.*2326A>C (n.*2326A>C)
n.3352A>C
c.2729A>C (p.Gln910Pro)
c.3164A>C (p.Gln1055Pro)
c.1967A>C (p.Gln656Pro)
c.863A>C (p.Gln288Pro)
21g.46367057A>GCA410570396PCNTc.*1579A>G (n.*1579A>G)
n.3169A>G
c.3083A>G (p.Gln1028Arg)
c.*2326A>G (n.*2326A>G)
n.3352A>G
c.2729A>G (p.Gln910Arg)
c.3164A>G (p.Gln1055Arg)
c.1967A>G (p.Gln656Arg)
c.863A>G (p.Gln288Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46367057A>TCA410570397PCNTc.*1579A>T (n.*1579A>T)
n.3169A>T
c.3083A>T (p.Gln1028Leu)
c.*2326A>T (n.*2326A>T)
n.3352A>T
c.2729A>T (p.Gln910Leu)
c.3164A>T (p.Gln1055Leu)
c.1967A>T (p.Gln656Leu)
c.863A>T (p.Gln288Leu)
 COSMIC
21g.46367058G>ACA512734472PCNTc.*1580G>A (n.*1580G>A)
n.3170G>A
c.3084G>A (p.Gln1028=)
c.*2327G>A (n.*2327G>A)
n.3353G>A
c.2730G>A (p.Gln910=)
c.3165G>A (p.Gln1055=)
c.1968G>A (p.Gln656=)
c.864G>A (p.Gln288=)
21g.46367058G>CCA410570399PCNTc.*1580G>C (n.*1580G>C)
n.3170G>C
c.3084G>C (p.Gln1028His)
c.*2327G>C (n.*2327G>C)
n.3353G>C
c.2730G>C (p.Gln910His)
c.3165G>C (p.Gln1055His)
c.1968G>C (p.Gln656His)
c.864G>C (p.Gln288His)
21g.46367058G=CA2392640246PCNTc.*1580G= (n.*1580G=)
n.3170G=
c.3084G= (p.Gln1028=)
c.*2327G= (n.*2327G=)
n.3353G=
c.2730G= (p.Gln910=)
c.3165G= (p.Gln1055=)
c.1968G= (p.Gln656=)
c.864G= (p.Gln288=)
21g.46367058G>TCA410570401PCNTc.*1580G>T (n.*1580G>T)
n.3170G>T
c.3084G>T (p.Gln1028His)
c.*2327G>T (n.*2327G>T)
n.3353G>T
c.2730G>T (p.Gln910His)
c.3165G>T (p.Gln1055His)
c.1968G>T (p.Gln656His)
c.864G>T (p.Gln288His)
 dbSNP gnomAD v4
21g.46367059T>ACA410570402PCNTc.*1581T>A (n.*1581T>A)
n.3171T>A
c.3085T>A (p.Ser1029Thr)
c.*2328T>A (n.*2328T>A)
n.3354T>A
c.2731T>A (p.Ser911Thr)
c.3166T>A (p.Ser1056Thr)
c.1969T>A (p.Ser657Thr)
c.865T>A (p.Ser289Thr)
21g.46367059T>CCA322005977PCNTc.*1581T>C (n.*1581T>C)
n.3171T>C
c.3085T>C (p.Ser1029Pro)
c.*2328T>C (n.*2328T>C)
n.3354T>C
c.2731T>C (p.Ser911Pro)
c.3166T>C (p.Ser1056Pro)
c.1969T>C (p.Ser657Pro)
c.865T>C (p.Ser289Pro)
 ClinVar dbSNP
21g.46367059T>GCA410570403PCNTc.*1581T>G (n.*1581T>G)
n.3171T>G
c.3085T>G (p.Ser1029Ala)
c.*2328T>G (n.*2328T>G)
n.3354T>G
c.2731T>G (p.Ser911Ala)
c.3166T>G (p.Ser1056Ala)
c.1969T>G (p.Ser657Ala)
c.865T>G (p.Ser289Ala)
 gnomAD v4
21g.46367059T=CA2392640247PCNTc.*1581T= (n.*1581T=)
n.3171T=
c.3085T= (p.Ser1029=)
c.*2328T= (n.*2328T=)
n.3354T=
c.2731T= (p.Ser911=)
c.3166T= (p.Ser1056=)
c.1969T= (p.Ser657=)
c.865T= (p.Ser289=)
21g.46367060C>ACA410570406PCNTc.*1582C>A (n.*1582C>A)
n.3172C>A
c.3086C>A (p.Ser1029Tyr)
c.*2329C>A (n.*2329C>A)
n.3355C>A
c.2732C>A (p.Ser911Tyr)
c.3167C>A (p.Ser1056Tyr)
c.1970C>A (p.Ser657Tyr)
c.866C>A (p.Ser289Tyr)
21g.46367060C>GCA410570408PCNTc.*1582C>G (n.*1582C>G)
n.3172C>G
c.3086C>G (p.Ser1029Cys)
c.*2329C>G (n.*2329C>G)
n.3355C>G
c.2732C>G (p.Ser911Cys)
c.3167C>G (p.Ser1056Cys)
c.1970C>G (p.Ser657Cys)
c.866C>G (p.Ser289Cys)
 ClinVar gnomAD v4
21g.46367060C>TCA410570409PCNTc.*1582C>T (n.*1582C>T)
n.3172C>T
c.3086C>T (p.Ser1029Phe)
c.*2329C>T (n.*2329C>T)
n.3355C>T
c.2732C>T (p.Ser911Phe)
c.3167C>T (p.Ser1056Phe)
c.1970C>T (p.Ser657Phe)
c.866C>T (p.Ser289Phe)
 gnomAD v4
21g.46367061T>ACA512734474PCNTc.*1583T>A (n.*1583T>A)
n.3173T>A
c.3087T>A (p.Ser1029=)
c.*2330T>A (n.*2330T>A)
n.3356T>A
c.2733T>A (p.Ser911=)
c.3168T>A (p.Ser1056=)
c.1971T>A (p.Ser657=)
c.867T>A (p.Ser289=)
21g.46367061T>CCA512734476PCNTc.*1583T>C (n.*1583T>C)
n.3173T>C
c.3087T>C (p.Ser1029=)
c.*2330T>C (n.*2330T>C)
n.3356T>C
c.2733T>C (p.Ser911=)
c.3168T>C (p.Ser1056=)
c.1971T>C (p.Ser657=)
c.867T>C (p.Ser289=)
 ClinVar
21g.46367061T>GCA512734478PCNTc.*1583T>G (n.*1583T>G)
n.3173T>G
c.3087T>G (p.Ser1029=)
c.*2330T>G (n.*2330T>G)
n.3356T>G
c.2733T>G (p.Ser911=)
c.3168T>G (p.Ser1056=)
c.1971T>G (p.Ser657=)
c.867T>G (p.Ser289=)
21g.46367063_46367064delCA2577633571PCNTc.*1585_*1586del (n.*1585_*1586del)
n.3175_3176del
c.3089_3090del (p.Val1030AlafsTer27)
c.*2332_*2333del (n.*2332_*2333del)
n.3358_3359del
c.2735_2736del (p.Val912AlafsTer27)
c.3170_3171del (p.Val1057AlafsTer27)
c.1973_1974del (p.Val658AlafsTer27)
c.869_870del (p.Val290AlafsTer27)
21g.46367062G>ACA410570412PCNTc.*1584G>A (n.*1584G>A)
n.3174G>A
c.3088G>A (p.Val1030Met)
c.*2331G>A (n.*2331G>A)
n.3357G>A
c.2734G>A (p.Val912Met)
c.3169G>A (p.Val1057Met)
c.1972G>A (p.Val658Met)
c.868G>A (p.Val290Met)
 gnomAD v4
21g.46367062G>CCA410570414PCNTc.*1584G>C (n.*1584G>C)
n.3174G>C
c.3088G>C (p.Val1030Leu)
c.*2331G>C (n.*2331G>C)
n.3357G>C
c.2734G>C (p.Val912Leu)
c.3169G>C (p.Val1057Leu)
c.1972G>C (p.Val658Leu)
c.868G>C (p.Val290Leu)
 gnomAD v4 COSMIC
21g.46367062G>TCA410570416PCNTc.*1584G>T (n.*1584G>T)
n.3174G>T
c.3088G>T (p.Val1030Leu)
c.*2331G>T (n.*2331G>T)
n.3357G>T
c.2734G>T (p.Val912Leu)
c.3169G>T (p.Val1057Leu)
c.1972G>T (p.Val658Leu)
c.868G>T (p.Val290Leu)
21g.46367063T>ACA410570419PCNTc.*1585T>A (n.*1585T>A)
n.3175T>A
c.3089T>A (p.Val1030Glu)
c.*2332T>A (n.*2332T>A)
n.3358T>A
c.2735T>A (p.Val912Glu)
c.3170T>A (p.Val1057Glu)
c.1973T>A (p.Val658Glu)
c.869T>A (p.Val290Glu)
21g.46367063T>CCA410570421PCNTc.*1585T>C (n.*1585T>C)
n.3175T>C
c.3089T>C (p.Val1030Ala)
c.*2332T>C (n.*2332T>C)
n.3358T>C
c.2735T>C (p.Val912Ala)
c.3170T>C (p.Val1057Ala)
c.1973T>C (p.Val658Ala)
c.869T>C (p.Val290Ala)
 dbSNP gnomAD v3 gnomAD v4
21g.46367063T>GCA410570423PCNTc.*1585T>G (n.*1585T>G)
n.3175T>G
c.3089T>G (p.Val1030Gly)
c.*2332T>G (n.*2332T>G)
n.3358T>G
c.2735T>G (p.Val912Gly)
c.3170T>G (p.Val1057Gly)
c.1973T>G (p.Val658Gly)
c.869T>G (p.Val290Gly)
21g.46367063T=CA2392640248PCNTc.*1585T= (n.*1585T=)
n.3175T=
c.3089T= (p.Val1030=)
c.*2332T= (n.*2332T=)
n.3358T=
c.2735T= (p.Val912=)
c.3170T= (p.Val1057=)
c.1973T= (p.Val658=)
c.869T= (p.Val290=)
21g.46367064G>ACA512734481PCNTc.*1586G>A (n.*1586G>A)
n.3176G>A
c.3090G>A (p.Val1030=)
c.*2333G>A (n.*2333G>A)
n.3359G>A
c.2736G>A (p.Val912=)
c.3171G>A (p.Val1057=)
c.1974G>A (p.Val658=)
c.870G>A (p.Val290=)
21g.46367064G>CCA512734482PCNTc.*1586G>C (n.*1586G>C)
n.3176G>C
c.3090G>C (p.Val1030=)
c.*2333G>C (n.*2333G>C)
n.3359G>C
c.2736G>C (p.Val912=)
c.3171G>C (p.Val1057=)
c.1974G>C (p.Val658=)
c.870G>C (p.Val290=)
21g.46367064G>TCA512734483PCNTc.*1586G>T (n.*1586G>T)
n.3176G>T
c.3090G>T (p.Val1030=)
c.*2333G>T (n.*2333G>T)
n.3359G>T
c.2736G>T (p.Val912=)
c.3171G>T (p.Val1057=)
c.1974G>T (p.Val658=)
c.870G>T (p.Val290=)
21g.46367065C>ACA512734484PCNTc.*1587C>A (n.*1587C>A)
n.3177C>A
c.3091C>A (p.Arg1031=)
c.*2334C>A (n.*2334C>A)
n.3360C>A
c.2737C>A (p.Arg913=)
c.3172C>A (p.Arg1058=)
c.1975C>A (p.Arg659=)
c.871C>A (p.Arg291=)
21g.46367065C=CA2392640249PCNTc.*1587C= (n.*1587C=)
n.3177C=
c.3091C= (p.Arg1031=)
c.*2334C= (n.*2334C=)
n.3360C=
c.2737C= (p.Arg913=)
c.3172C= (p.Arg1058=)
c.1975C= (p.Arg659=)
c.871C= (p.Arg291=)
21g.46367065C>GCA10079168PCNTc.*1587C>G (n.*1587C>G)
n.3177C>G
c.3091C>G (p.Arg1031Gly)
c.*2334C>G (n.*2334C>G)
n.3360C>G
c.2737C>G (p.Arg913Gly)
c.3172C>G (p.Arg1058Gly)
c.1975C>G (p.Arg659Gly)
c.871C>G (p.Arg291Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367065C>TCA10079167PCNTc.*1587C>T (n.*1587C>T)
n.3177C>T
c.3091C>T (p.Arg1031Trp)
c.*2334C>T (n.*2334C>T)
n.3360C>T
c.2737C>T (p.Arg913Trp)
c.3172C>T (p.Arg1058Trp)
c.1975C>T (p.Arg659Trp)
c.871C>T (p.Arg291Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46367066G>ACA10079169PCNTc.*1588G>A (n.*1588G>A)
n.3178G>A
c.3092G>A (p.Arg1031Gln)
c.*2335G>A (n.*2335G>A)
n.3361G>A
c.2738G>A (p.Arg913Gln)
c.3173G>A (p.Arg1058Gln)
c.1976G>A (p.Arg659Gln)
c.872G>A (p.Arg291Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367066G>CCA410570429PCNTc.*1588G>C (n.*1588G>C)
n.3178G>C
c.3092G>C (p.Arg1031Pro)
c.*2335G>C (n.*2335G>C)
n.3361G>C
c.2738G>C (p.Arg913Pro)
c.3173G>C (p.Arg1058Pro)
c.1976G>C (p.Arg659Pro)
c.872G>C (p.Arg291Pro)
 gnomAD v4
21g.46367066G=CA2392640250PCNTc.*1588G= (n.*1588G=)
n.3178G=
c.3092G= (p.Arg1031=)
c.*2335G= (n.*2335G=)
n.3361G=
c.2738G= (p.Arg913=)
c.3173G= (p.Arg1058=)
c.1976G= (p.Arg659=)
c.872G= (p.Arg291=)
21g.46367066G>TCA410570427PCNTc.*1588G>T (n.*1588G>T)
n.3178G>T
c.3092G>T (p.Arg1031Leu)
c.*2335G>T (n.*2335G>T)
n.3361G>T
c.2738G>T (p.Arg913Leu)
c.3173G>T (p.Arg1058Leu)
c.1976G>T (p.Arg659Leu)
c.872G>T (p.Arg291Leu)
21g.46367067G>ACA512734486PCNTc.*1589G>A (n.*1589G>A)
n.3179G>A
c.3093G>A (p.Arg1031=)
c.*2336G>A (n.*2336G>A)
n.3362G>A
c.2739G>A (p.Arg913=)
c.3174G>A (p.Arg1058=)
c.1977G>A (p.Arg659=)
c.873G>A (p.Arg291=)
21g.46367067G>CCA512734487PCNTc.*1589G>C (n.*1589G>C)
n.3179G>C
c.3093G>C (p.Arg1031=)
c.*2336G>C (n.*2336G>C)
n.3362G>C
c.2739G>C (p.Arg913=)
c.3174G>C (p.Arg1058=)
c.1977G>C (p.Arg659=)
c.873G>C (p.Arg291=)
21g.46367067G>TCA512734488PCNTc.*1589G>T (n.*1589G>T)
n.3179G>T
c.3093G>T (p.Arg1031=)
c.*2336G>T (n.*2336G>T)
n.3362G>T
c.2739G>T (p.Arg913=)
c.3174G>T (p.Arg1058=)
c.1977G>T (p.Arg659=)
c.873G>T (p.Arg291=)
21g.46367068G>ACA410570435PCNTc.*1590G>A (n.*1590G>A)
n.3180G>A
c.3094G>A (p.Asp1032Asn)
c.*2337G>A (n.*2337G>A)
n.3363G>A
c.2740G>A (p.Asp914Asn)
c.3175G>A (p.Asp1059Asn)
c.1978G>A (p.Asp660Asn)
c.874G>A (p.Asp292Asn)
21g.46367068G>CCA410570431PCNTc.*1590G>C (n.*1590G>C)
n.3180G>C
c.3094G>C (p.Asp1032His)
c.*2337G>C (n.*2337G>C)
n.3363G>C
c.2740G>C (p.Asp914His)
c.3175G>C (p.Asp1059His)
c.1978G>C (p.Asp660His)
c.874G>C (p.Asp292His)
21g.46367068G>TCA410570434PCNTc.*1590G>T (n.*1590G>T)
n.3180G>T
c.3094G>T (p.Asp1032Tyr)
c.*2337G>T (n.*2337G>T)
n.3363G>T
c.2740G>T (p.Asp914Tyr)
c.3175G>T (p.Asp1059Tyr)
c.1978G>T (p.Asp660Tyr)
c.874G>T (p.Asp292Tyr)
 gnomAD v4
21g.46367069A>CCA410570437PCNTc.*1591A>C (n.*1591A>C)
n.3181A>C
c.3095A>C (p.Asp1032Ala)
c.*2338A>C (n.*2338A>C)
n.3364A>C
c.2741A>C (p.Asp914Ala)
c.3176A>C (p.Asp1059Ala)
c.1979A>C (p.Asp660Ala)
c.875A>C (p.Asp292Ala)
21g.46367069A>GCA410570439PCNTc.*1591A>G (n.*1591A>G)
n.3181A>G
c.3095A>G (p.Asp1032Gly)
c.*2338A>G (n.*2338A>G)
n.3364A>G
c.2741A>G (p.Asp914Gly)
c.3176A>G (p.Asp1059Gly)
c.1979A>G (p.Asp660Gly)
c.875A>G (p.Asp292Gly)
21g.46367069A>TCA410570441PCNTc.*1591A>T (n.*1591A>T)
n.3181A>T
c.3095A>T (p.Asp1032Val)
c.*2338A>T (n.*2338A>T)
n.3364A>T
c.2741A>T (p.Asp914Val)
c.3176A>T (p.Asp1059Val)
c.1979A>T (p.Asp660Val)
c.875A>T (p.Asp292Val)
21g.46367070C>ACA410570442PCNTc.*1592C>A (n.*1592C>A)
n.3182C>A
c.3096C>A (p.Asp1032Glu)
c.*2339C>A (n.*2339C>A)
n.3365C>A
c.2742C>A (p.Asp914Glu)
c.3177C>A (p.Asp1059Glu)
c.1980C>A (p.Asp660Glu)
c.876C>A (p.Asp292Glu)
21g.46367070C>GCA410570443PCNTc.*1592C>G (n.*1592C>G)
n.3182C>G
c.3096C>G (p.Asp1032Glu)
c.*2339C>G (n.*2339C>G)
n.3365C>G
c.2742C>G (p.Asp914Glu)
c.3177C>G (p.Asp1059Glu)
c.1980C>G (p.Asp660Glu)
c.876C>G (p.Asp292Glu)
21g.46367070C>TCA512734492PCNTc.*1592C>T (n.*1592C>T)
n.3182C>T
c.3096C>T (p.Asp1032=)
c.*2339C>T (n.*2339C>T)
n.3365C>T
c.2742C>T (p.Asp914=)
c.3177C>T (p.Asp1059=)
c.1980C>T (p.Asp660=)
c.876C>T (p.Asp292=)
21g.46367071delCA2818110750PCNTc.*1593del (n.*1593del)
n.3183del
c.3097del (p.His1033ThrfsTer6)
c.*2340del (n.*2340del)
n.3366del
c.2743del (p.His915ThrfsTer6)
c.3178del (p.His1060ThrfsTer6)
c.1981del (p.His661ThrfsTer6)
c.877del (p.His293ThrfsTer6)
21g.46367071C>ACA410570449PCNTc.*1593C>A (n.*1593C>A)
n.3183C>A
c.3097C>A (p.His1033Asn)
c.*2340C>A (n.*2340C>A)
n.3366C>A
c.2743C>A (p.His915Asn)
c.3178C>A (p.His1060Asn)
c.1981C>A (p.His661Asn)
c.877C>A (p.His293Asn)
21g.46367071C>GCA410570446PCNTc.*1593C>G (n.*1593C>G)
n.3183C>G
c.3097C>G (p.His1033Asp)
c.*2340C>G (n.*2340C>G)
n.3366C>G
c.2743C>G (p.His915Asp)
c.3178C>G (p.His1060Asp)
c.1981C>G (p.His661Asp)
c.877C>G (p.His293Asp)
21g.46367071C>TCA410570447PCNTc.*1593C>T (n.*1593C>T)
n.3183C>T
c.3097C>T (p.His1033Tyr)
c.*2340C>T (n.*2340C>T)
n.3366C>T
c.2743C>T (p.His915Tyr)
c.3178C>T (p.His1060Tyr)
c.1981C>T (p.His661Tyr)
c.877C>T (p.His293Tyr)
 gnomAD v4 COSMIC
21g.46367072A>CCA410570450PCNTc.*1594A>C (n.*1594A>C)
n.3184A>C
c.3098A>C (p.His1033Pro)
c.*2341A>C (n.*2341A>C)
n.3367A>C
c.2744A>C (p.His915Pro)
c.3179A>C (p.His1060Pro)
c.1982A>C (p.His661Pro)
c.878A>C (p.His293Pro)
21g.46367072A>GCA410570452PCNTc.*1594A>G (n.*1594A>G)
n.3184A>G
c.3098A>G (p.His1033Arg)
c.*2341A>G (n.*2341A>G)
n.3367A>G
c.2744A>G (p.His915Arg)
c.3179A>G (p.His1060Arg)
c.1982A>G (p.His661Arg)
c.878A>G (p.His293Arg)
 gnomAD v4
21g.46367072A>TCA410570455PCNTc.*1594A>T (n.*1594A>T)
n.3184A>T
c.3098A>T (p.His1033Leu)
c.*2341A>T (n.*2341A>T)
n.3367A>T
c.2744A>T (p.His915Leu)
c.3179A>T (p.His1060Leu)
c.1982A>T (p.His661Leu)
c.878A>T (p.His293Leu)
21g.46367073C>ACA410570458PCNTc.*1595C>A (n.*1595C>A)
n.3185C>A
c.3099C>A (p.His1033Gln)
c.*2342C>A (n.*2342C>A)
n.3368C>A
c.2745C>A (p.His915Gln)
c.3180C>A (p.His1060Gln)
c.1983C>A (p.His661Gln)
c.879C>A (p.His293Gln)
21g.46367073C>GCA410570460PCNTc.*1595C>G (n.*1595C>G)
n.3185C>G
c.3099C>G (p.His1033Gln)
c.*2342C>G (n.*2342C>G)
n.3368C>G
c.2745C>G (p.His915Gln)
c.3180C>G (p.His1060Gln)
c.1983C>G (p.His661Gln)
c.879C>G (p.His293Gln)
21g.46367073C>TCA512734497PCNTc.*1595C>T (n.*1595C>T)
n.3185C>T
c.3099C>T (p.His1033=)
c.*2342C>T (n.*2342C>T)
n.3368C>T
c.2745C>T (p.His915=)
c.3180C>T (p.His1060=)
c.1983C>T (p.His661=)
c.879C>T (p.His293=)
 gnomAD v4
21g.46367074C>ACA410570465PCNTc.*1596C>A (n.*1596C>A)
n.3186C>A
c.3100C>A (p.Leu1034Met)
c.*2343C>A (n.*2343C>A)
n.3369C>A
c.2746C>A (p.Leu916Met)
c.3181C>A (p.Leu1061Met)
c.1984C>A (p.Leu662Met)
c.880C>A (p.Leu294Met)
21g.46367074C=CA2392640251PCNTc.*1596C= (n.*1596C=)
n.3186C=
c.3100C= (p.Leu1034=)
c.*2343C= (n.*2343C=)
n.3369C=
c.2746C= (p.Leu916=)
c.3181C= (p.Leu1061=)
c.1984C= (p.Leu662=)
c.880C= (p.Leu294=)
21g.46367074C>GCA410570466PCNTc.*1596C>G (n.*1596C>G)
n.3186C>G
c.3100C>G (p.Leu1034Val)
c.*2343C>G (n.*2343C>G)
n.3369C>G
c.2746C>G (p.Leu916Val)
c.3181C>G (p.Leu1061Val)
c.1984C>G (p.Leu662Val)
c.880C>G (p.Leu294Val)
21g.46367074C>TCA10079170PCNTc.*1596C>T (n.*1596C>T)
n.3186C>T
c.3100C>T (p.Leu1034=)
c.*2343C>T (n.*2343C>T)
n.3369C>T
c.2746C>T (p.Leu916=)
c.3181C>T (p.Leu1061=)
c.1984C>T (p.Leu662=)
c.880C>T (p.Leu294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367075T>ACA410570467PCNTc.*1597T>A (n.*1597T>A)
n.3187T>A
c.3101T>A (p.Leu1034Gln)
c.*2344T>A (n.*2344T>A)
n.3370T>A
c.2747T>A (p.Leu916Gln)
c.3182T>A (p.Leu1061Gln)
c.1985T>A (p.Leu662Gln)
c.881T>A (p.Leu294Gln)
21g.46367075T>CCA410570469PCNTc.*1597T>C (n.*1597T>C)
n.3187T>C
c.3101T>C (p.Leu1034Pro)
c.*2344T>C (n.*2344T>C)
n.3370T>C
c.2747T>C (p.Leu916Pro)
c.3182T>C (p.Leu1061Pro)
c.1985T>C (p.Leu662Pro)
c.881T>C (p.Leu294Pro)
21g.46367075T>GCA410570470PCNTc.*1597T>G (n.*1597T>G)
n.3187T>G
c.3101T>G (p.Leu1034Arg)
c.*2344T>G (n.*2344T>G)
n.3370T>G
c.2747T>G (p.Leu916Arg)
c.3182T>G (p.Leu1061Arg)
c.1985T>G (p.Leu662Arg)
c.881T>G (p.Leu294Arg)
21g.46367076G>ACA512734500PCNTc.*1598G>A (n.*1598G>A)
n.3188G>A
c.3102G>A (p.Leu1034=)
c.*2345G>A (n.*2345G>A)
n.3371G>A
c.2748G>A (p.Leu916=)
c.3183G>A (p.Leu1061=)
c.1986G>A (p.Leu662=)
c.882G>A (p.Leu294=)
21g.46367076G>CCA512734501PCNTc.*1598G>C (n.*1598G>C)
n.3188G>C
c.3102G>C (p.Leu1034=)
c.*2345G>C (n.*2345G>C)
n.3371G>C
c.2748G>C (p.Leu916=)
c.3183G>C (p.Leu1061=)
c.1986G>C (p.Leu662=)
c.882G>C (p.Leu294=)
21g.46367076G>TCA512734502PCNTc.*1598G>T (n.*1598G>T)
n.3188G>T
c.3102G>T (p.Leu1034=)
c.*2345G>T (n.*2345G>T)
n.3371G>T
c.2748G>T (p.Leu916=)
c.3183G>T (p.Leu1061=)
c.1986G>T (p.Leu662=)
c.882G>T (p.Leu294=)
21g.46367077C>ACA512734503PCNTc.*1599C>A (n.*1599C>A)
n.3189C>A
c.3103C>A (p.Arg1035=)
c.*2346C>A (n.*2346C>A)
n.3372C>A
c.2749C>A (p.Arg917=)
c.3184C>A (p.Arg1062=)
c.1987C>A (p.Arg663=)
c.883C>A (p.Arg295=)
21g.46367077C=CA2392640252PCNTc.*1599C= (n.*1599C=)
n.3189C=
c.3103C= (p.Arg1035=)
c.*2346C= (n.*2346C=)
n.3372C=
c.2749C= (p.Arg917=)
c.3184C= (p.Arg1062=)
c.1987C= (p.Arg663=)
c.883C= (p.Arg295=)
21g.46367077C>GCA410570471PCNTc.*1599C>G (n.*1599C>G)
n.3189C>G
c.3103C>G (p.Arg1035Gly)
c.*2346C>G (n.*2346C>G)
n.3372C>G
c.2749C>G (p.Arg917Gly)
c.3184C>G (p.Arg1062Gly)
c.1987C>G (p.Arg663Gly)
c.883C>G (p.Arg295Gly)
21g.46367077C>TCA10079171PCNTc.*1599C>T (n.*1599C>T)
n.3189C>T
c.3103C>T (p.Arg1035Ter)
c.*2346C>T (n.*2346C>T)
n.3372C>T
c.2749C>T (p.Arg917Ter)
c.3184C>T (p.Arg1062Ter)
c.1987C>T (p.Arg663Ter)
c.883C>T (p.Arg295Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367078G>ACA10079172PCNTc.*1600G>A (n.*1600G>A)
n.3190G>A
c.3104G>A (p.Arg1035Gln)
c.*2347G>A (n.*2347G>A)
n.3373G>A
c.2750G>A (p.Arg917Gln)
c.3185G>A (p.Arg1062Gln)
c.1988G>A (p.Arg663Gln)
c.884G>A (p.Arg295Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46367078G>CCA410570475PCNTc.*1600G>C (n.*1600G>C)
n.3190G>C
c.3104G>C (p.Arg1035Pro)
c.*2347G>C (n.*2347G>C)
n.3373G>C
c.2750G>C (p.Arg917Pro)
c.3185G>C (p.Arg1062Pro)
c.1988G>C (p.Arg663Pro)
c.884G>C (p.Arg295Pro)
21g.46367078G=CA2392640253PCNTc.*1600G= (n.*1600G=)
n.3190G=
c.3104G= (p.Arg1035=)
c.*2347G= (n.*2347G=)
n.3373G=
c.2750G= (p.Arg917=)
c.3185G= (p.Arg1062=)
c.1988G= (p.Arg663=)
c.884G= (p.Arg295=)
21g.46367078G>TCA410570476PCNTc.*1600G>T (n.*1600G>T)
n.3190G>T
c.3104G>T (p.Arg1035Leu)
c.*2347G>T (n.*2347G>T)
n.3373G>T
c.2750G>T (p.Arg917Leu)
c.3185G>T (p.Arg1062Leu)
c.1988G>T (p.Arg663Leu)
c.884G>T (p.Arg295Leu)
 gnomAD v4
21g.46367079A=CA2392640254PCNTc.*1601A= (n.*1601A=)
n.3191A=
c.3105A= (p.Arg1035=)
c.*2348A= (n.*2348A=)
n.3374A=
c.2751A= (p.Arg917=)
c.3186A= (p.Arg1062=)
c.1989A= (p.Arg663=)
c.885A= (p.Arg295=)
21g.46367079A>CCA512734506PCNTc.*1601A>C (n.*1601A>C)
n.3191A>C
c.3105A>C (p.Arg1035=)
c.*2348A>C (n.*2348A>C)
n.3374A>C
c.2751A>C (p.Arg917=)
c.3186A>C (p.Arg1062=)
c.1989A>C (p.Arg663=)
c.885A>C (p.Arg295=)
 dbSNP
21g.46367079A>GCA512734507PCNTc.*1601A>G (n.*1601A>G)
n.3191A>G
c.3105A>G (p.Arg1035=)
c.*2348A>G (n.*2348A>G)
n.3374A>G
c.2751A>G (p.Arg917=)
c.3186A>G (p.Arg1062=)
c.1989A>G (p.Arg663=)
c.885A>G (p.Arg295=)
21g.46367079A>TCA512734508PCNTc.*1601A>T (n.*1601A>T)
n.3191A>T
c.3105A>T (p.Arg1035=)
c.*2348A>T (n.*2348A>T)
n.3374A>T
c.2751A>T (p.Arg917=)
c.3186A>T (p.Arg1062=)
c.1989A>T (p.Arg663=)
c.885A>T (p.Arg295=)
21g.46367080A>CCA410570478PCNTc.*1602A>C (n.*1602A>C)
n.3192A>C
c.3106A>C (p.Thr1036Pro)
c.*2349A>C (n.*2349A>C)
n.3375A>C
c.2752A>C (p.Thr918Pro)
c.3187A>C (p.Thr1063Pro)
c.1990A>C (p.Thr664Pro)
c.886A>C (p.Thr296Pro)
21g.46367080A>GCA410570479PCNTc.*1602A>G (n.*1602A>G)
n.3192A>G
c.3106A>G (p.Thr1036Ala)
c.*2349A>G (n.*2349A>G)
n.3375A>G
c.2752A>G (p.Thr918Ala)
c.3187A>G (p.Thr1063Ala)
c.1990A>G (p.Thr664Ala)
c.886A>G (p.Thr296Ala)
21g.46367080A>TCA410570481PCNTc.*1602A>T (n.*1602A>T)
n.3192A>T
c.3106A>T (p.Thr1036Ser)
c.*2349A>T (n.*2349A>T)
n.3375A>T
c.2752A>T (p.Thr918Ser)
c.3187A>T (p.Thr1063Ser)
c.1990A>T (p.Thr664Ser)
c.886A>T (p.Thr296Ser)
21g.46367081C>ACA410570483PCNTc.*1603C>A (n.*1603C>A)
n.3193C>A
c.3107C>A (p.Thr1036Asn)
c.*2350C>A (n.*2350C>A)
n.3376C>A
c.2753C>A (p.Thr918Asn)
c.3188C>A (p.Thr1063Asn)
c.1991C>A (p.Thr664Asn)
c.887C>A (p.Thr296Asn)
21g.46367081C>GCA410570486PCNTc.*1603C>G (n.*1603C>G)
n.3193C>G
c.3107C>G (p.Thr1036Ser)
c.*2350C>G (n.*2350C>G)
n.3376C>G
c.2753C>G (p.Thr918Ser)
c.3188C>G (p.Thr1063Ser)
c.1991C>G (p.Thr664Ser)
c.887C>G (p.Thr296Ser)
21g.46367081C>TCA410570484PCNTc.*1603C>T (n.*1603C>T)
n.3193C>T
c.3107C>T (p.Thr1036Ile)
c.*2350C>T (n.*2350C>T)
n.3376C>T
c.2753C>T (p.Thr918Ile)
c.3188C>T (p.Thr1063Ile)
c.1991C>T (p.Thr664Ile)
c.887C>T (p.Thr296Ile)
21g.46367082C>ACA512734512PCNTc.*1604C>A (n.*1604C>A)
n.3194C>A
c.3108C>A (p.Thr1036=)
c.*2351C>A (n.*2351C>A)
n.3377C>A
c.2754C>A (p.Thr918=)
c.3189C>A (p.Thr1063=)
c.1992C>A (p.Thr664=)
c.888C>A (p.Thr296=)
 gnomAD v4
21g.46367082C=CA2392640255PCNTc.*1604C= (n.*1604C=)
n.3194C=
c.3108C= (p.Thr1036=)
c.*2351C= (n.*2351C=)
n.3377C=
c.2754C= (p.Thr918=)
c.3189C= (p.Thr1063=)
c.1992C= (p.Thr664=)
c.888C= (p.Thr296=)
21g.46367082C>GCA512734513PCNTc.*1604C>G (n.*1604C>G)
n.3194C>G
c.3108C>G (p.Thr1036=)
c.*2351C>G (n.*2351C>G)
n.3377C>G
c.2754C>G (p.Thr918=)
c.3189C>G (p.Thr1063=)
c.1992C>G (p.Thr664=)
c.888C>G (p.Thr296=)
21g.46367082C>TCA10079173PCNTc.*1604C>T (n.*1604C>T)
n.3194C>T
c.3108C>T (p.Thr1036=)
c.*2351C>T (n.*2351C>T)
n.3377C>T
c.2754C>T (p.Thr918=)
c.3189C>T (p.Thr1063=)
c.1992C>T (p.Thr664=)
c.888C>T (p.Thr296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367083G>ACA10079174PCNTc.*1605G>A (n.*1605G>A)
n.3195G>A
c.3109G>A (p.Glu1037Lys)
c.*2352G>A (n.*2352G>A)
n.3378G>A
c.2755G>A (p.Glu919Lys)
c.3190G>A (p.Glu1064Lys)
c.1993G>A (p.Glu665Lys)
c.889G>A (p.Glu297Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46367083G>CCA410570490PCNTc.*1605G>C (n.*1605G>C)
n.3195G>C
c.3109G>C (p.Glu1037Gln)
c.*2352G>C (n.*2352G>C)
n.3378G>C
c.2755G>C (p.Glu919Gln)
c.3190G>C (p.Glu1064Gln)
c.1993G>C (p.Glu665Gln)
c.889G>C (p.Glu297Gln)
21g.46367083G=CA2392640256PCNTc.*1605G= (n.*1605G=)
n.3195G=
c.3109G= (p.Glu1037=)
c.*2352G= (n.*2352G=)
n.3378G=
c.2755G= (p.Glu919=)
c.3190G= (p.Glu1064=)
c.1993G= (p.Glu665=)
c.889G= (p.Glu297=)
21g.46367083G>TCA250512PCNTc.*1605G>T (n.*1605G>T)
n.3195G>T
c.3109G>T (p.Glu1037Ter)
c.*2352G>T (n.*2352G>T)
n.3378G>T
c.2755G>T (p.Glu919Ter)
c.3190G>T (p.Glu1064Ter)
c.1993G>T (p.Glu665Ter)
c.889G>T (p.Glu297Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46367084A>CCA410570493PCNTc.*1606A>C (n.*1606A>C)
n.3196A>C
c.3110A>C (p.Glu1037Ala)
c.*2353A>C (n.*2353A>C)
n.3379A>C
c.2756A>C (p.Glu919Ala)
c.3191A>C (p.Glu1064Ala)
c.1994A>C (p.Glu665Ala)
c.890A>C (p.Glu297Ala)
 gnomAD v4
21g.46367084A>GCA410570495PCNTc.*1606A>G (n.*1606A>G)
n.3196A>G
c.3110A>G (p.Glu1037Gly)
c.*2353A>G (n.*2353A>G)
n.3379A>G
c.2756A>G (p.Glu919Gly)
c.3191A>G (p.Glu1064Gly)
c.1994A>G (p.Glu665Gly)
c.890A>G (p.Glu297Gly)
21g.46367084A>TCA410570496PCNTc.*1606A>T (n.*1606A>T)
n.3196A>T
c.3110A>T (p.Glu1037Val)
c.*2353A>T (n.*2353A>T)
n.3379A>T
c.2756A>T (p.Glu919Val)
c.3191A>T (p.Glu1064Val)
c.1994A>T (p.Glu665Val)
c.890A>T (p.Glu297Val)
21g.46367085A>CCA410570498PCNTc.*1607A>C (n.*1607A>C)
n.3197A>C
c.3111A>C (p.Glu1037Asp)
c.*2354A>C (n.*2354A>C)
n.3380A>C
c.2757A>C (p.Glu919Asp)
c.3192A>C (p.Glu1064Asp)
c.1995A>C (p.Glu665Asp)
c.891A>C (p.Glu297Asp)
21g.46367085A>GCA512734516PCNTc.*1607A>G (n.*1607A>G)
n.3197A>G
c.3111A>G (p.Glu1037=)
c.*2354A>G (n.*2354A>G)
n.3380A>G
c.2757A>G (p.Glu919=)
c.3192A>G (p.Glu1064=)
c.1995A>G (p.Glu665=)
c.891A>G (p.Glu297=)
 gnomAD v4
21g.46367085A>TCA410570499PCNTc.*1607A>T (n.*1607A>T)
n.3197A>T
c.3111A>T (p.Glu1037Asp)
c.*2354A>T (n.*2354A>T)
n.3380A>T
c.2757A>T (p.Glu919Asp)
c.3192A>T (p.Glu1064Asp)
c.1995A>T (p.Glu665Asp)
c.891A>T (p.Glu297Asp)
21g.46367085_46367086insCACACCCAACACACA2818110751PCNTc.*1607_*1608insCACACCCAACACA (n.*1607_*1608insCACACCCAACACA)
n.3197_3198insCACACCCAACACA
c.3111_3112insCACACCCAACACA (p.Val1038HisfsTer24)
c.*2354_*2355insCACACCCAACACA (n.*2354_*2355insCACACCCAACACA)
n.3380_3381insCACACCCAACACA
c.2757_2758insCACACCCAACACA (p.Val920HisfsTer24)
c.3192_3193insCACACCCAACACA (p.Val1065HisfsTer24)
c.1995_1996insCACACCCAACACA (p.Val666HisfsTer24)
c.891_892insCACACCCAACACA (p.Val298HisfsTer24)
21g.46367086G>ACA410570500PCNTc.*1608G>A (n.*1608G>A)
n.3198G>A
c.3112G>A (p.Val1038Met)
c.*2355G>A (n.*2355G>A)
n.3381G>A
c.2758G>A (p.Val920Met)
c.3193G>A (p.Val1065Met)
c.1996G>A (p.Val666Met)
c.892G>A (p.Val298Met)
 dbSNP gnomAD v2 gnomAD v4
21g.46367086G>CCA410570502PCNTc.*1608G>C (n.*1608G>C)
n.3198G>C
c.3112G>C (p.Val1038Leu)
c.*2355G>C (n.*2355G>C)
n.3381G>C
c.2758G>C (p.Val920Leu)
c.3193G>C (p.Val1065Leu)
c.1996G>C (p.Val666Leu)
c.892G>C (p.Val298Leu)
 gnomAD v4
21g.46367086G=CA2392640257PCNTc.*1608G= (n.*1608G=)
n.3198G=
c.3112G= (p.Val1038=)
c.*2355G= (n.*2355G=)
n.3381G=
c.2758G= (p.Val920=)
c.3193G= (p.Val1065=)
c.1996G= (p.Val666=)
c.892G= (p.Val298=)
21g.46367086G>TCA410570504PCNTc.*1608G>T (n.*1608G>T)
n.3198G>T
c.3112G>T (p.Val1038Leu)
c.*2355G>T (n.*2355G>T)
n.3381G>T
c.2758G>T (p.Val920Leu)
c.3193G>T (p.Val1065Leu)
c.1996G>T (p.Val666Leu)
c.892G>T (p.Val298Leu)
21g.46367087T>ACA410570508PCNTc.*1609T>A (n.*1609T>A)
n.3199T>A
c.3113T>A (p.Val1038Glu)
c.*2356T>A (n.*2356T>A)
n.3382T>A
c.2759T>A (p.Val920Glu)
c.3194T>A (p.Val1065Glu)
c.1997T>A (p.Val666Glu)
c.893T>A (p.Val298Glu)
 dbSNP
21g.46367087T>CCA172989PCNTc.*1609T>C (n.*1609T>C)
n.3199T>C
c.3113T>C (p.Val1038Ala)
c.*2356T>C (n.*2356T>C)
n.3382T>C
c.2759T>C (p.Val920Ala)
c.3194T>C (p.Val1065Ala)
c.1997T>C (p.Val666Ala)
c.893T>C (p.Val298Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46367087T>GCA410570507PCNTc.*1609T>G (n.*1609T>G)
n.3199T>G
c.3113T>G (p.Val1038Gly)
c.*2356T>G (n.*2356T>G)
n.3382T>G
c.2759T>G (p.Val920Gly)
c.3194T>G (p.Val1065Gly)
c.1997T>G (p.Val666Gly)
c.893T>G (p.Val298Gly)
21g.46367087T=CA2392640258PCNTc.*1609T= (n.*1609T=)
n.3199T=
c.3113T= (p.Val1038=)
c.*2356T= (n.*2356T=)
n.3382T=
c.2759T= (p.Val920=)
c.3194T= (p.Val1065=)
c.1997T= (p.Val666=)
c.893T= (p.Val298=)
21g.46367087_46367117delCA2740094749PCNTc.*1609_*1639del (n.*1609_*1639del)
n.3199_3229del
c.3113_3143del (p.Val1038AlafsTer?)
c.*2356_*2386del (n.*2356_*2386del)
n.3382_3412del
c.2759_2789del (p.Val920AlafsTer?)
c.3194_3224del (p.Val1065AlafsTer?)
c.1997_2027del (p.Val666AlafsTer?)
c.893_923del (p.Val298AlafsTer?)
 ClinVar
21g.46367088delCA2655020869PCNTc.*1610del (n.*1610del)
n.3200del
c.3114del (p.Ser1039AlafsTer?)
c.*2357del (n.*2357del)
n.3383del
c.2760del (p.Ser921AlafsTer?)
c.3195del (p.Ser1066AlafsTer?)
c.1998del (p.Ser667AlafsTer?)
c.894del (p.Ser299AlafsTer?)
 gnomAD v4
21g.46367088G>ACA10079175PCNTc.*1610G>A (n.*1610G>A)
n.3200G>A
c.3114G>A (p.Val1038=)
c.*2357G>A (n.*2357G>A)
n.3383G>A
c.2760G>A (p.Val920=)
c.3195G>A (p.Val1065=)
c.1998G>A (p.Val666=)
c.894G>A (p.Val298=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46367088G>CCA512734518PCNTc.*1610G>C (n.*1610G>C)
n.3200G>C
c.3114G>C (p.Val1038=)
c.*2357G>C (n.*2357G>C)
n.3383G>C
c.2760G>C (p.Val920=)
c.3195G>C (p.Val1065=)
c.1998G>C (p.Val666=)
c.894G>C (p.Val298=)
21g.46367088G=CA2392640259PCNTc.*1610G= (n.*1610G=)
n.3200G=
c.3114G= (p.Val1038=)
c.*2357G= (n.*2357G=)
n.3383G=
c.2760G= (p.Val920=)
c.3195G= (p.Val1065=)
c.1998G= (p.Val666=)
c.894G= (p.Val298=)
21g.46367088G>TCA512734519PCNTc.*1610G>T (n.*1610G>T)
n.3200G>T
c.3114G>T (p.Val1038=)
c.*2357G>T (n.*2357G>T)
n.3383G>T
c.2760G>T (p.Val920=)
c.3195G>T (p.Val1065=)
c.1998G>T (p.Val666=)
c.894G>T (p.Val298=)
21g.46367089A>CCA410570512PCNTc.*1611A>C (n.*1611A>C)
n.3201A>C
c.3115A>C (p.Ser1039Arg)
c.*2358A>C (n.*2358A>C)
n.3384A>C
c.2761A>C (p.Ser921Arg)
c.3196A>C (p.Ser1066Arg)
c.1999A>C (p.Ser667Arg)
c.895A>C (p.Ser299Arg)
21g.46367089A>GCA410570513PCNTc.*1611A>G (n.*1611A>G)
n.3201A>G
c.3115A>G (p.Ser1039Gly)
c.*2358A>G (n.*2358A>G)
n.3384A>G
c.2761A>G (p.Ser921Gly)
c.3196A>G (p.Ser1066Gly)
c.1999A>G (p.Ser667Gly)
c.895A>G (p.Ser299Gly)
 dbSNP
21g.46367089A>TCA410570515PCNTc.*1611A>T (n.*1611A>T)
n.3201A>T
c.3115A>T (p.Ser1039Cys)
c.*2358A>T (n.*2358A>T)
n.3384A>T
c.2761A>T (p.Ser921Cys)
c.3196A>T (p.Ser1066Cys)
c.1999A>T (p.Ser667Cys)
c.895A>T (p.Ser299Cys)
21g.46367090G>ACA410570517PCNTc.*1612G>A (n.*1612G>A)
n.3202G>A
c.3116G>A (p.Ser1039Asn)
c.*2359G>A (n.*2359G>A)
n.3385G>A
c.2762G>A (p.Ser921Asn)
c.3197G>A (p.Ser1066Asn)
c.2000G>A (p.Ser667Asn)
c.896G>A (p.Ser299Asn)
 gnomAD v4 COSMIC
21g.46367090G>CCA410570519PCNTc.*1612G>C (n.*1612G>C)
n.3202G>C
c.3116G>C (p.Ser1039Thr)
c.*2359G>C (n.*2359G>C)
n.3385G>C
c.2762G>C (p.Ser921Thr)
c.3197G>C (p.Ser1066Thr)
c.2000G>C (p.Ser667Thr)
c.896G>C (p.Ser299Thr)
21g.46367090G>TCA410570520PCNTc.*1612G>T (n.*1612G>T)
n.3202G>T
c.3116G>T (p.Ser1039Ile)
c.*2359G>T (n.*2359G>T)
n.3385G>T
c.2762G>T (p.Ser921Ile)
c.3197G>T (p.Ser1066Ile)
c.2000G>T (p.Ser667Ile)
c.896G>T (p.Ser299Ile)
21g.46367091C>ACA410570523PCNTc.*1613C>A (n.*1613C>A)
n.3203C>A
c.3117C>A (p.Ser1039Arg)
c.*2360C>A (n.*2360C>A)
n.3386C>A
c.2763C>A (p.Ser921Arg)
c.3198C>A (p.Ser1066Arg)
c.2001C>A (p.Ser667Arg)
c.897C>A (p.Ser299Arg)
 gnomAD v4
21g.46367091C>GCA410570525PCNTc.*1613C>G (n.*1613C>G)
n.3203C>G
c.3117C>G (p.Ser1039Arg)
c.*2360C>G (n.*2360C>G)
n.3386C>G
c.2763C>G (p.Ser921Arg)
c.3198C>G (p.Ser1066Arg)
c.2001C>G (p.Ser667Arg)
c.897C>G (p.Ser299Arg)
21g.46367091C>TCA512734523PCNTc.*1613C>T (n.*1613C>T)
n.3203C>T
c.3117C>T (p.Ser1039=)
c.*2360C>T (n.*2360C>T)
n.3386C>T
c.2763C>T (p.Ser921=)
c.3198C>T (p.Ser1066=)
c.2001C>T (p.Ser667=)
c.897C>T (p.Ser299=)
21g.46367093_46367094delCA2842880157PCNTc.*1615_*1616del (n.*1615_*1616del)
n.3205_3206del
c.3119_3120del (p.Thr1040ArgfsTer17)
c.*2362_*2363del (n.*2362_*2363del)
n.3388_3389del
c.2765_2766del (p.Thr922ArgfsTer17)
c.3200_3201del (p.Thr1067ArgfsTer17)
c.2003_2004del (p.Thr668ArgfsTer17)
c.899_900del (p.Thr300ArgfsTer17)

Number of alleles fetched