Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.21562943A>CCA384132316GYS2c.1037T>G (p.Leu346Ter)
c.*1039T>G (n.*1039T>G)
n.964T>G
c.818T>G (p.Leu273Ter)
c.806T>G (p.Leu269Ter)
12g.21562943A>GCA384132319GYS2c.1037T>C (p.Leu346Ser)
c.*1039T>C (n.*1039T>C)
n.964T>C
c.818T>C (p.Leu273Ser)
c.806T>C (p.Leu269Ser)
12g.21562943A>TCA384132324GYS2c.1037T>A (p.Leu346Ter)
c.*1039T>A (n.*1039T>A)
n.964T>A
c.818T>A (p.Leu273Ter)
c.806T>A (p.Leu269Ter)
12g.21562944A=CA2021178823GYS2c.1036T= (p.Leu346=)
c.*1038T= (n.*1038T=)
n.963T=
c.817T= (p.Leu273=)
c.805T= (p.Leu269=)
12g.21562944A>CCA384132328GYS2c.1036T>G (p.Leu346Val)
c.*1038T>G (n.*1038T>G)
n.963T>G
c.817T>G (p.Leu273Val)
c.805T>G (p.Leu269Val)
12g.21562944A>GCA6480020GYS2c.1036T>C (p.Leu346=)
c.*1038T>C (n.*1038T>C)
n.963T>C
c.817T>C (p.Leu273=)
c.805T>C (p.Leu269=)
 dbSNP ExAC gnomAD v2
12g.21562944A>TCA384132337GYS2c.1036T>A (p.Leu346Ile)
c.*1038T>A (n.*1038T>A)
n.963T>A
c.817T>A (p.Leu273Ile)
c.805T>A (p.Leu269Ile)
12g.21562945G>ACA478869481GYS2c.1035C>T (p.Ser345=)
c.*1037C>T (n.*1037C>T)
n.962C>T
c.816C>T (p.Ser272=)
c.804C>T (p.Ser268=)
 COSMIC
12g.21562945G>CCA478869482GYS2c.1035C>G (p.Ser345=)
c.*1037C>G (n.*1037C>G)
n.962C>G
c.816C>G (p.Ser272=)
c.804C>G (p.Ser268=)
12g.21562945G>TCA478869483GYS2c.1035C>A (p.Ser345=)
c.*1037C>A (n.*1037C>A)
n.962C>A
c.816C>A (p.Ser272=)
c.804C>A (p.Ser268=)
12g.21562946G>ACA384132348GYS2c.1034C>T (p.Ser345Phe)
c.*1036C>T (n.*1036C>T)
n.961C>T
c.815C>T (p.Ser272Phe)
c.803C>T (p.Ser268Phe)
 COSMIC
12g.21562946G>CCA384132345GYS2c.1034C>G (p.Ser345Cys)
c.*1036C>G (n.*1036C>G)
n.961C>G
c.815C>G (p.Ser272Cys)
c.803C>G (p.Ser268Cys)
12g.21562946G>TCA384132342GYS2c.1034C>A (p.Ser345Tyr)
c.*1036C>A (n.*1036C>A)
n.961C>A
c.815C>A (p.Ser272Tyr)
c.803C>A (p.Ser268Tyr)
 gnomAD v4
12g.21562947A>CCA384132353GYS2c.1033T>G (p.Ser345Ala)
c.*1035T>G (n.*1035T>G)
n.960T>G
c.814T>G (p.Ser272Ala)
c.802T>G (p.Ser268Ala)
12g.21562947A>GCA384132365GYS2c.1033T>C (p.Ser345Pro)
c.*1035T>C (n.*1035T>C)
n.960T>C
c.814T>C (p.Ser272Pro)
c.802T>C (p.Ser268Pro)
12g.21562947A>TCA384132370GYS2c.1033T>A (p.Ser345Thr)
c.*1035T>A (n.*1035T>A)
n.960T>A
c.814T>A (p.Ser272Thr)
c.802T>A (p.Ser268Thr)
12g.21562948T>ACA384132374GYS2c.1032A>T (p.Glu344Asp)
c.*1034A>T (n.*1034A>T)
n.959A>T
c.813A>T (p.Glu271Asp)
c.801A>T (p.Glu267Asp)
12g.21562948T>CCA478869484GYS2c.1032A>G (p.Glu344=)
c.*1034A>G (n.*1034A>G)
n.959A>G
c.813A>G (p.Glu271=)
c.801A>G (p.Glu267=)
12g.21562948T>GCA384132378GYS2c.1032A>C (p.Glu344Asp)
c.*1034A>C (n.*1034A>C)
n.959A>C
c.813A>C (p.Glu271Asp)
c.801A>C (p.Glu267Asp)
 gnomAD v4
12g.21562949T>ACA384132381GYS2c.1031A>T (p.Glu344Val)
c.*1033A>T (n.*1033A>T)
n.958A>T
c.812A>T (p.Glu271Val)
c.800A>T (p.Glu267Val)
12g.21562949T>CCA384132385GYS2c.1031A>G (p.Glu344Gly)
c.*1033A>G (n.*1033A>G)
n.958A>G
c.812A>G (p.Glu271Gly)
c.800A>G (p.Glu267Gly)
12g.21562949T>GCA384132388GYS2c.1031A>C (p.Glu344Ala)
c.*1033A>C (n.*1033A>C)
n.958A>C
c.812A>C (p.Glu271Ala)
c.800A>C (p.Glu267Ala)
12g.21562950C>ACA384132393GYS2c.1030G>T (p.Glu344Ter)
c.*1032G>T (n.*1032G>T)
n.957G>T
c.811G>T (p.Glu271Ter)
c.799G>T (p.Glu267Ter)
 gnomAD v4
12g.21562950C>GCA384132396GYS2c.1030G>C (p.Glu344Gln)
c.*1032G>C (n.*1032G>C)
n.957G>C
c.811G>C (p.Glu271Gln)
c.799G>C (p.Glu267Gln)
12g.21562950C>TCA384132401GYS2c.1030G>A (p.Glu344Lys)
c.*1032G>A (n.*1032G>A)
n.957G>A
c.811G>A (p.Glu271Lys)
c.799G>A (p.Glu267Lys)
 gnomAD v4
12g.21562951T>ACA478869485GYS2c.1029A>T (p.Leu343=)
c.*1031A>T (n.*1031A>T)
n.956A>T
c.810A>T (p.Leu270=)
c.798A>T (p.Leu266=)
12g.21562951T>CCA478869487GYS2c.1029A>G (p.Leu343=)
c.*1031A>G (n.*1031A>G)
n.956A>G
c.810A>G (p.Leu270=)
c.798A>G (p.Leu266=)
12g.21562951T>GCA478869486GYS2c.1029A>C (p.Leu343=)
c.*1031A>C (n.*1031A>C)
n.956A>C
c.810A>C (p.Leu270=)
c.798A>C (p.Leu266=)
12g.21562952A>CCA384132407GYS2c.1028T>G (p.Leu343Arg)
c.*1030T>G (n.*1030T>G)
n.955T>G
c.809T>G (p.Leu270Arg)
c.797T>G (p.Leu266Arg)
12g.21562952A>GCA384132411GYS2c.1028T>C (p.Leu343Pro)
c.*1030T>C (n.*1030T>C)
n.955T>C
c.809T>C (p.Leu270Pro)
c.797T>C (p.Leu266Pro)
12g.21562952A>TCA384132418GYS2c.1028T>A (p.Leu343Gln)
c.*1030T>A (n.*1030T>A)
n.955T>A
c.809T>A (p.Leu270Gln)
c.797T>A (p.Leu266Gln)
12g.21562953G>ACA478869488GYS2c.1027C>T (p.Leu343=)
c.*1029C>T (n.*1029C>T)
n.954C>T
c.808C>T (p.Leu270=)
c.796C>T (p.Leu266=)
12g.21562953G>CCA384132426GYS2c.1027C>G (p.Leu343Val)
c.*1029C>G (n.*1029C>G)
n.954C>G
c.808C>G (p.Leu270Val)
c.796C>G (p.Leu266Val)
 dbSNP
12g.21562953G=CA2021178826GYS2c.1027C= (p.Leu343=)
c.*1029C= (n.*1029C=)
n.954C=
c.808C= (p.Leu270=)
c.796C= (p.Leu266=)
12g.21562953G>TCA384132439GYS2c.1027C>A (p.Leu343Ile)
c.*1029C>A (n.*1029C>A)
n.954C>A
c.808C>A (p.Leu270Ile)
c.796C>A (p.Leu266Ile)
12g.21562954G>ACA6480021GYS2c.1026C>T (p.Phe342=)
c.*1028C>T (n.*1028C>T)
n.953C>T
c.807C>T (p.Phe269=)
c.795C>T (p.Phe265=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21562954G>CCA384132445GYS2c.1026C>G (p.Phe342Leu)
c.*1028C>G (n.*1028C>G)
n.953C>G
c.807C>G (p.Phe269Leu)
c.795C>G (p.Phe265Leu)
 gnomAD v4
12g.21562954G=CA2021178830GYS2c.1026C= (p.Phe342=)
c.*1028C= (n.*1028C=)
n.953C=
c.807C= (p.Phe269=)
c.795C= (p.Phe265=)
12g.21562954G>TCA384132447GYS2c.1026C>A (p.Phe342Leu)
c.*1028C>A (n.*1028C>A)
n.953C>A
c.807C>A (p.Phe269Leu)
c.795C>A (p.Phe265Leu)
12g.21562955A>CCA384132450GYS2c.1025T>G (p.Phe342Cys)
c.*1027T>G (n.*1027T>G)
n.952T>G
c.806T>G (p.Phe269Cys)
c.794T>G (p.Phe265Cys)
12g.21562955A>GCA384132453GYS2c.1025T>C (p.Phe342Ser)
c.*1027T>C (n.*1027T>C)
n.952T>C
c.806T>C (p.Phe269Ser)
c.794T>C (p.Phe265Ser)
12g.21562955A>TCA384132454GYS2c.1025T>A (p.Phe342Tyr)
c.*1027T>A (n.*1027T>A)
n.952T>A
c.806T>A (p.Phe269Tyr)
c.794T>A (p.Phe265Tyr)
12g.21562956delCA2617923606GYS2c.1025del (p.Phe342SerfsTer2)
c.*1027del (n.*1027del)
n.952del
c.806del (p.Phe269SerfsTer2)
c.794del (p.Phe265SerfsTer2)
 gnomAD v4
12g.21562956A>CCA384132457GYS2c.1024T>G (p.Phe342Val)
c.*1026T>G (n.*1026T>G)
n.951T>G
c.805T>G (p.Phe269Val)
c.793T>G (p.Phe265Val)
12g.21562956A>GCA384132459GYS2c.1024T>C (p.Phe342Leu)
c.*1026T>C (n.*1026T>C)
n.951T>C
c.805T>C (p.Phe269Leu)
c.793T>C (p.Phe265Leu)
12g.21562956A>TCA384132463GYS2c.1024T>A (p.Phe342Ile)
c.*1026T>A (n.*1026T>A)
n.951T>A
c.805T>A (p.Phe269Ile)
c.793T>A (p.Phe265Ile)
12g.21562957G>ACA478869489GYS2c.1023C>T (p.Ile341=)
c.*1025C>T (n.*1025C>T)
n.950C>T
c.804C>T (p.Ile268=)
c.792C>T (p.Ile264=)
 gnomAD v4 COSMIC
12g.21562957G>CCA384132464GYS2c.1023C>G (p.Ile341Met)
c.*1025C>G (n.*1025C>G)
n.950C>G
c.804C>G (p.Ile268Met)
c.792C>G (p.Ile264Met)
12g.21562957G>TCA478869490GYS2c.1023C>A (p.Ile341=)
c.*1025C>A (n.*1025C>A)
n.950C>A
c.804C>A (p.Ile268=)
c.792C>A (p.Ile264=)
 gnomAD v4
12g.21562958A>CCA384132465GYS2c.1022T>G (p.Ile341Ser)
c.*1024T>G (n.*1024T>G)
n.949T>G
c.803T>G (p.Ile268Ser)
c.791T>G (p.Ile264Ser)
12g.21562958A>GCA384132466GYS2c.1022T>C (p.Ile341Thr)
c.*1024T>C (n.*1024T>C)
n.949T>C
c.803T>C (p.Ile268Thr)
c.791T>C (p.Ile264Thr)
12g.21562958A>TCA384132468GYS2c.1022T>A (p.Ile341Asn)
c.*1024T>A (n.*1024T>A)
n.949T>A
c.803T>A (p.Ile268Asn)
c.791T>A (p.Ile264Asn)
 gnomAD v4
12g.21562959T>ACA384132480GYS2c.1021A>T (p.Ile341Phe)
c.*1023A>T (n.*1023A>T)
n.948A>T
c.802A>T (p.Ile268Phe)
c.790A>T (p.Ile264Phe)
12g.21562959T>CCA384132475GYS2c.1021A>G (p.Ile341Val)
c.*1023A>G (n.*1023A>G)
n.948A>G
c.802A>G (p.Ile268Val)
c.790A>G (p.Ile264Val)
 dbSNP gnomAD v2 gnomAD v4
12g.21562959T>GCA384132472GYS2c.1021A>C (p.Ile341Leu)
c.*1023A>C (n.*1023A>C)
n.948A>C
c.802A>C (p.Ile268Leu)
c.790A>C (p.Ile264Leu)
12g.21562959T=CA2021178832GYS2c.1021A= (p.Ile341=)
c.*1023A= (n.*1023A=)
n.948A=
c.802A= (p.Ile268=)
c.790A= (p.Ile264=)
12g.21562960G>ACA6480022GYS2c.1020C>T (p.Asp340=)
c.*1022C>T (n.*1022C>T)
n.947C>T
c.801C>T (p.Asp267=)
c.789C>T (p.Asp263=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21562960G>CCA384132500GYS2c.1020C>G (p.Asp340Glu)
c.*1022C>G (n.*1022C>G)
n.947C>G
c.801C>G (p.Asp267Glu)
c.789C>G (p.Asp263Glu)
12g.21562960G=CA2021178834GYS2c.1020C= (p.Asp340=)
c.*1022C= (n.*1022C=)
n.947C=
c.801C= (p.Asp267=)
c.789C= (p.Asp263=)
12g.21562960G>TCA384132490GYS2c.1020C>A (p.Asp340Glu)
c.*1022C>A (n.*1022C>A)
n.947C>A
c.801C>A (p.Asp267Glu)
c.789C>A (p.Asp263Glu)
12g.21562961T>ACA384132507GYS2c.1019A>T (p.Asp340Val)
c.*1021A>T (n.*1021A>T)
n.946A>T
c.800A>T (p.Asp267Val)
c.788A>T (p.Asp263Val)
12g.21562961T>CCA384132511GYS2c.1019A>G (p.Asp340Gly)
c.*1021A>G (n.*1021A>G)
n.946A>G
c.800A>G (p.Asp267Gly)
c.788A>G (p.Asp263Gly)
12g.21562961T>GCA384132509GYS2c.1019A>C (p.Asp340Ala)
c.*1021A>C (n.*1021A>C)
n.946A>C
c.800A>C (p.Asp267Ala)
c.788A>C (p.Asp263Ala)
12g.21562962C>ACA384132518GYS2c.1018G>T (p.Asp340Tyr)
c.*1020G>T (n.*1020G>T)
n.945G>T
c.799G>T (p.Asp267Tyr)
c.787G>T (p.Asp263Tyr)
12g.21562962C>GCA384132526GYS2c.1018G>C (p.Asp340His)
c.*1020G>C (n.*1020G>C)
n.945G>C
c.799G>C (p.Asp267His)
c.787G>C (p.Asp263His)
 gnomAD v4
12g.21562962C>TCA384132522GYS2c.1018G>A (p.Asp340Asn)
c.*1020G>A (n.*1020G>A)
n.945G>A
c.799G>A (p.Asp267Asn)
c.787G>A (p.Asp263Asn)
12g.21562963A>CCA478869492GYS2c.1017T>G (p.Ala339=)
c.*1019T>G (n.*1019T>G)
n.944T>G
c.798T>G (p.Ala266=)
c.786T>G (p.Ala262=)
12g.21562963A>GCA478869494GYS2c.1017T>C (p.Ala339=)
c.*1019T>C (n.*1019T>C)
n.944T>C
c.798T>C (p.Ala266=)
c.786T>C (p.Ala262=)
12g.21562963A>TCA478869495GYS2c.1017T>A (p.Ala339=)
c.*1019T>A (n.*1019T>A)
n.944T>A
c.798T>A (p.Ala266=)
c.786T>A (p.Ala262=)
12g.21562964G>ACA384132530GYS2c.1016C>T (p.Ala339Val)
c.*1018C>T (n.*1018C>T)
n.943C>T
c.797C>T (p.Ala266Val)
c.785C>T (p.Ala262Val)
 gnomAD v4
12g.21562964G>CCA384132533GYS2c.1016C>G (p.Ala339Gly)
c.*1018C>G (n.*1018C>G)
n.943C>G
c.797C>G (p.Ala266Gly)
c.785C>G (p.Ala262Gly)
 dbSNP gnomAD v4
12g.21562964G=CA2021178836GYS2c.1016C= (p.Ala339=)
c.*1018C= (n.*1018C=)
n.943C=
c.797C= (p.Ala266=)
c.785C= (p.Ala262=)
12g.21562964G>TCA384132537GYS2c.1016C>A (p.Ala339Asp)
c.*1018C>A (n.*1018C>A)
n.943C>A
c.797C>A (p.Ala266Asp)
c.785C>A (p.Ala262Asp)
12g.21562965C>ACA384132541GYS2c.1015G>T (p.Ala339Ser)
c.*1017G>T (n.*1017G>T)
n.942G>T
c.796G>T (p.Ala266Ser)
c.784G>T (p.Ala262Ser)
12g.21562965C=CA2021178840GYS2c.1015G= (p.Ala339=)
c.*1017G= (n.*1017G=)
n.942G=
c.796G= (p.Ala266=)
c.784G= (p.Ala262=)
12g.21562965C>GCA126171GYS2c.1015G>C (p.Ala339Pro)
c.*1017G>C (n.*1017G>C)
n.942G>C
c.796G>C (p.Ala266Pro)
c.784G>C (p.Ala262Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21562965C>TCA384132549GYS2c.1015G>A (p.Ala339Thr)
c.*1017G>A (n.*1017G>A)
n.942G>A
c.796G>A (p.Ala266Thr)
c.784G>A (p.Ala262Thr)
12g.21562966T>ACA478869497GYS2c.1014A>T (p.Gly338=)
c.*1016A>T (n.*1016A>T)
n.941A>T
c.795A>T (p.Gly265=)
c.783A>T (p.Gly261=)
12g.21562966T>CCA478869498GYS2c.1014A>G (p.Gly338=)
c.*1016A>G (n.*1016A>G)
n.941A>G
c.795A>G (p.Gly265=)
c.783A>G (p.Gly261=)
12g.21562966T>GCA478869499GYS2c.1014A>C (p.Gly338=)
c.*1016A>C (n.*1016A>C)
n.941A>C
c.795A>C (p.Gly265=)
c.783A>C (p.Gly261=)
12g.21562967C>ACA384132554GYS2c.1013G>T (p.Gly338Val)
c.*1015G>T (n.*1015G>T)
n.940G>T
c.794G>T (p.Gly265Val)
c.782G>T (p.Gly261Val)
12g.21562967C=CA2021178844GYS2c.1013G= (p.Gly338=)
c.*1015G= (n.*1015G=)
n.940G=
c.794G= (p.Gly265=)
c.782G= (p.Gly261=)
12g.21562967C>GCA384132557GYS2c.1013G>C (p.Gly338Ala)
c.*1015G>C (n.*1015G>C)
n.940G>C
c.794G>C (p.Gly265Ala)
c.782G>C (p.Gly261Ala)
12g.21562967C>TCA384132558GYS2c.1013G>A (p.Gly338Glu)
c.*1015G>A (n.*1015G>A)
n.940G>A
c.794G>A (p.Gly265Glu)
c.782G>A (p.Gly261Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.21562968C>ACA384132559GYS2c.1012G>T (p.Gly338Ter)
c.*1014G>T (n.*1014G>T)
n.939G>T
c.793G>T (p.Gly265Ter)
c.781G>T (p.Gly261Ter)
12g.21562968C=CA2021178847GYS2c.1012G= (p.Gly338=)
c.*1014G= (n.*1014G=)
n.939G=
c.793G= (p.Gly265=)
c.781G= (p.Gly261=)
12g.21562968C>GCA384132562GYS2c.1012G>C (p.Gly338Arg)
c.*1014G>C (n.*1014G>C)
n.939G>C
c.793G>C (p.Gly265Arg)
c.781G>C (p.Gly261Arg)
12g.21562968C>TCA6480023GYS2c.1012G>A (p.Gly338Arg)
c.*1014G>A (n.*1014G>A)
n.939G>A
c.793G>A (p.Gly265Arg)
c.781G>A (p.Gly261Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21562969T>ACA384132572GYS2c.1011A>T (p.Lys337Asn)
c.*1013A>T (n.*1013A>T)
n.938A>T
c.792A>T (p.Lys264Asn)
c.780A>T (p.Lys260Asn)
12g.21562969T>CCA478869503GYS2c.1011A>G (p.Lys337=)
c.*1013A>G (n.*1013A>G)
n.938A>G
c.792A>G (p.Lys264=)
c.780A>G (p.Lys260=)
 dbSNP
12g.21562969T>GCA384132571GYS2c.1011A>C (p.Lys337Asn)
c.*1013A>C (n.*1013A>C)
n.938A>C
c.792A>C (p.Lys264Asn)
c.780A>C (p.Lys260Asn)
12g.21562969T=CA2021178850GYS2c.1011A= (p.Lys337=)
c.*1013A= (n.*1013A=)
n.938A=
c.792A= (p.Lys264=)
c.780A= (p.Lys260=)
12g.21562970T>ACA384132573GYS2c.1010A>T (p.Lys337Ile)
c.*1012A>T (n.*1012A>T)
n.937A>T
c.791A>T (p.Lys264Ile)
c.779A>T (p.Lys260Ile)
12g.21562970T>CCA384132576GYS2c.1010A>G (p.Lys337Arg)
c.*1012A>G (n.*1012A>G)
n.937A>G
c.791A>G (p.Lys264Arg)
c.779A>G (p.Lys260Arg)
12g.21562970T>GCA384132582GYS2c.1010A>C (p.Lys337Thr)
c.*1012A>C (n.*1012A>C)
n.937A>C
c.791A>C (p.Lys264Thr)
c.779A>C (p.Lys260Thr)
12g.21562971T>ACA384132583GYS2c.1009A>T (p.Lys337Ter)
c.*1011A>T (n.*1011A>T)
n.936A>T
c.790A>T (p.Lys264Ter)
c.778A>T (p.Lys260Ter)
12g.21562971T>CCA384132586GYS2c.1009A>G (p.Lys337Glu)
c.*1011A>G (n.*1011A>G)
n.936A>G
c.790A>G (p.Lys264Glu)
c.778A>G (p.Lys260Glu)
 gnomAD v4
12g.21562971T>GCA384132589GYS2c.1009A>C (p.Lys337Gln)
c.*1011A>C (n.*1011A>C)
n.936A>C
c.790A>C (p.Lys264Gln)
c.778A>C (p.Lys260Gln)
 dbSNP gnomAD v4
12g.21562971T=CA2021178852GYS2c.1009A= (p.Lys337=)
c.*1011A= (n.*1011A=)
n.936A=
c.790A= (p.Lys264=)
c.778A= (p.Lys260=)
12g.21562972G>ACA478869504GYS2c.1008C>T (p.Asn336=)
c.*1010C>T (n.*1010C>T)
n.935C>T
c.789C>T (p.Asn263=)
c.777C>T (p.Asn259=)
 gnomAD v4
12g.21562972G>CCA384132594GYS2c.1008C>G (p.Asn336Lys)
c.*1010C>G (n.*1010C>G)
n.935C>G
c.789C>G (p.Asn263Lys)
c.777C>G (p.Asn259Lys)
12g.21562972G>TCA384132596GYS2c.1008C>A (p.Asn336Lys)
c.*1010C>A (n.*1010C>A)
n.935C>A
c.789C>A (p.Asn263Lys)
c.777C>A (p.Asn259Lys)
12g.21562973T>ACA384132598GYS2c.1007A>T (p.Asn336Ile)
c.*1009A>T (n.*1009A>T)
n.934A>T
c.788A>T (p.Asn263Ile)
c.776A>T (p.Asn259Ile)
12g.21562973T>CCA384132600GYS2c.1007A>G (p.Asn336Ser)
c.*1009A>G (n.*1009A>G)
n.934A>G
c.788A>G (p.Asn263Ser)
c.776A>G (p.Asn259Ser)
12g.21562973T>GCA384132603GYS2c.1007A>C (p.Asn336Thr)
c.*1009A>C (n.*1009A>C)
n.934A>C
c.788A>C (p.Asn263Thr)
c.776A>C (p.Asn259Thr)
12g.21562974T>ACA384132609GYS2c.1006A>T (p.Asn336Tyr)
c.*1008A>T (n.*1008A>T)
n.933A>T
c.787A>T (p.Asn263Tyr)
c.775A>T (p.Asn259Tyr)
12g.21562974T>CCA384132608GYS2c.1006A>G (p.Asn336Asp)
c.*1008A>G (n.*1008A>G)
n.933A>G
c.787A>G (p.Asn263Asp)
c.775A>G (p.Asn259Asp)
12g.21562974T>GCA384132605GYS2c.1006A>C (p.Asn336His)
c.*1008A>C (n.*1008A>C)
n.933A>C
c.787A>C (p.Asn263His)
c.775A>C (p.Asn259His)
12g.21562975T>ACA478869505GYS2c.1005A>T (p.Ser335=)
c.*1007A>T (n.*1007A>T)
n.932A>T
c.786A>T (p.Ser262=)
c.774A>T (p.Ser258=)
12g.21562975T>CCA478869506GYS2c.1005A>G (p.Ser335=)
c.*1007A>G (n.*1007A>G)
n.932A>G
c.786A>G (p.Ser262=)
c.774A>G (p.Ser258=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.21562975T>GCA478869507GYS2c.1005A>C (p.Ser335=)
c.*1007A>C (n.*1007A>C)
n.932A>C
c.786A>C (p.Ser262=)
c.774A>C (p.Ser258=)
12g.21562975T=CA2021178855GYS2c.1005A= (p.Ser335=)
c.*1007A= (n.*1007A=)
n.932A=
c.786A= (p.Ser262=)
c.774A= (p.Ser258=)
12g.21562976G>ACA6480024GYS2c.1004C>T (p.Ser335Leu)
c.*1006C>T (n.*1006C>T)
n.931C>T
c.785C>T (p.Ser262Leu)
c.773C>T (p.Ser258Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21562976G>CCA384132614GYS2c.1004C>G (p.Ser335Ter)
c.*1006C>G (n.*1006C>G)
n.931C>G
c.785C>G (p.Ser262Ter)
c.773C>G (p.Ser258Ter)
12g.21562976G=CA2021178857GYS2c.1004C= (p.Ser335=)
c.*1006C= (n.*1006C=)
n.931C=
c.785C= (p.Ser262=)
c.773C= (p.Ser258=)
12g.21562976G>TCA384132618GYS2c.1004C>A (p.Ser335Ter)
c.*1006C>A (n.*1006C>A)
n.931C>A
c.785C>A (p.Ser262Ter)
c.773C>A (p.Ser258Ter)
 COSMIC
12g.21562977A>CCA384132623GYS2c.1003T>G (p.Ser335Ala)
c.*1005T>G (n.*1005T>G)
n.930T>G
c.784T>G (p.Ser262Ala)
c.772T>G (p.Ser258Ala)
12g.21562977A>GCA384132626GYS2c.1003T>C (p.Ser335Pro)
c.*1005T>C (n.*1005T>C)
n.930T>C
c.784T>C (p.Ser262Pro)
c.772T>C (p.Ser258Pro)
12g.21562977A>TCA384132630GYS2c.1003T>A (p.Ser335Thr)
c.*1005T>A (n.*1005T>A)
n.930T>A
c.784T>A (p.Ser262Thr)
c.772T>A (p.Ser258Thr)
12g.21562978A=CA2021178862GYS2c.1002T= (p.Phe334=)
c.*1004T= (n.*1004T=)
n.929T=
c.783T= (p.Phe261=)
c.771T= (p.Phe257=)
12g.21562978A>CCA384132632GYS2c.1002T>G (p.Phe334Leu)
c.*1004T>G (n.*1004T>G)
n.929T>G
c.783T>G (p.Phe261Leu)
c.771T>G (p.Phe257Leu)
12g.21562978A>GCA233607124GYS2c.1002T>C (p.Phe334=)
c.*1004T>C (n.*1004T>C)
n.929T>C
c.783T>C (p.Phe261=)
c.771T>C (p.Phe257=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.21562978A>TCA384132639GYS2c.1002T>A (p.Phe334Leu)
c.*1004T>A (n.*1004T>A)
n.929T>A
c.783T>A (p.Phe261Leu)
c.771T>A (p.Phe257Leu)
12g.21562979A>CCA384132644GYS2c.1001T>G (p.Phe334Cys)
c.*1003T>G (n.*1003T>G)
n.928T>G
c.782T>G (p.Phe261Cys)
c.770T>G (p.Phe257Cys)
12g.21562979A>GCA384132653GYS2c.1001T>C (p.Phe334Ser)
c.*1003T>C (n.*1003T>C)
n.928T>C
c.782T>C (p.Phe261Ser)
c.770T>C (p.Phe257Ser)
12g.21562979A>TCA384132656GYS2c.1001T>A (p.Phe334Tyr)
c.*1003T>A (n.*1003T>A)
n.928T>A
c.782T>A (p.Phe261Tyr)
c.770T>A (p.Phe257Tyr)
12g.21562980A>CCA384132670GYS2c.1000T>G (p.Phe334Val)
c.*1002T>G (n.*1002T>G)
n.927T>G
c.781T>G (p.Phe261Val)
c.769T>G (p.Phe257Val)
12g.21562980A>GCA384132661GYS2c.1000T>C (p.Phe334Leu)
c.*1002T>C (n.*1002T>C)
n.927T>C
c.781T>C (p.Phe261Leu)
c.769T>C (p.Phe257Leu)
12g.21562980A>TCA384132664GYS2c.1000T>A (p.Phe334Ile)
c.*1002T>A (n.*1002T>A)
n.927T>A
c.781T>A (p.Phe261Ile)
c.769T>A (p.Phe257Ile)
12g.21562981C>ACA384132673GYS2c.999G>T (p.Glu333Asp)
c.*1001G>T (n.*1001G>T)
n.926G>T
c.780G>T (p.Glu260Asp)
c.768G>T (p.Glu256Asp)
12g.21562981C>GCA384132675GYS2c.999G>C (p.Glu333Asp)
c.*1001G>C (n.*1001G>C)
n.926G>C
c.780G>C (p.Glu260Asp)
c.768G>C (p.Glu256Asp)
12g.21562981C>TCA478869508GYS2c.999G>A (p.Glu333=)
c.*1001G>A (n.*1001G>A)
n.926G>A
c.780G>A (p.Glu260=)
c.768G>A (p.Glu256=)
12g.21562982T>ACA384132680GYS2c.998A>T (p.Glu333Val)
c.*1000A>T (n.*1000A>T)
n.925A>T
c.779A>T (p.Glu260Val)
c.767A>T (p.Glu256Val)
12g.21562982T>CCA384132686GYS2c.998A>G (p.Glu333Gly)
c.*1000A>G (n.*1000A>G)
n.925A>G
c.779A>G (p.Glu260Gly)
c.767A>G (p.Glu256Gly)
12g.21562982T>GCA384132689GYS2c.998A>C (p.Glu333Ala)
c.*1000A>C (n.*1000A>C)
n.925A>C
c.779A>C (p.Glu260Ala)
c.767A>C (p.Glu256Ala)
12g.21562983C>ACA384132694GYS2c.997G>T (p.Glu333Ter)
c.*999G>T (n.*999G>T)
n.924G>T
c.778G>T (p.Glu260Ter)
c.766G>T (p.Glu256Ter)
12g.21562983C=CA2021178865GYS2c.997G= (p.Glu333=)
c.*999G= (n.*999G=)
n.924G=
c.778G= (p.Glu260=)
c.766G= (p.Glu256=)
12g.21562983C>GCA384132697GYS2c.997G>C (p.Glu333Gln)
c.*999G>C (n.*999G>C)
n.924G>C
c.778G>C (p.Glu260Gln)
c.766G>C (p.Glu256Gln)
 dbSNP gnomAD v2
12g.21562983C>TCA384132701GYS2c.997G>A (p.Glu333Lys)
c.*999G>A (n.*999G>A)
n.924G>A
c.778G>A (p.Glu260Lys)
c.766G>A (p.Glu256Lys)
12g.21562983_21562985delinsCATCA2021178864GYS2c.995_997delinsATG (p.Tyr332=)
c.*997_*999delinsATG (n.*997_*999delinsATG)
n.922_924delinsATG
c.776_778delinsATG (p.Tyr259=)
c.764_766delinsATG (p.Tyr255=)
12g.21562984A>CCA384132705GYS2c.996T>G (p.Tyr332Ter)
c.*998T>G (n.*998T>G)
n.923T>G
c.777T>G (p.Tyr259Ter)
c.765T>G (p.Tyr255Ter)
12g.21562984A>GCA478869510GYS2c.996T>C (p.Tyr332=)
c.*998T>C (n.*998T>C)
n.923T>C
c.777T>C (p.Tyr259=)
c.765T>C (p.Tyr255=)
 gnomAD v4
12g.21562984A>TCA384132708GYS2c.996T>A (p.Tyr332Ter)
c.*998T>A (n.*998T>A)
n.923T>A
c.777T>A (p.Tyr259Ter)
c.765T>A (p.Tyr255Ter)
12g.21562985_21562986delCA6480025GYS2c.995_996del (p.Tyr332Ter)
c.*997_*998del (n.*997_*998del)
n.922_923del
c.776_777del (p.Tyr259Ter)
c.764_765del (p.Tyr255Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.21562985T>ACA384132734GYS2c.995A>T (p.Tyr332Phe)
c.*997A>T (n.*997A>T)
n.922A>T
c.776A>T (p.Tyr259Phe)
c.764A>T (p.Tyr255Phe)
12g.21562985T>CCA384132727GYS2c.995A>G (p.Tyr332Cys)
c.*997A>G (n.*997A>G)
n.922A>G
c.776A>G (p.Tyr259Cys)
c.764A>G (p.Tyr255Cys)
12g.21562985T>GCA384132724GYS2c.995A>C (p.Tyr332Ser)
c.*997A>C (n.*997A>C)
n.922A>C
c.776A>C (p.Tyr259Ser)
c.764A>C (p.Tyr255Ser)
12g.21562986A=CA2021178871GYS2c.994T= (p.Tyr332=)
c.*996T= (n.*996T=)
n.921T=
c.775T= (p.Tyr259=)
c.763T= (p.Tyr255=)
12g.21562986A>CCA384132737GYS2c.994T>G (p.Tyr332Asp)
c.*996T>G (n.*996T>G)
n.921T>G
c.775T>G (p.Tyr259Asp)
c.763T>G (p.Tyr255Asp)
12g.21562986A>GCA384132744GYS2c.994T>C (p.Tyr332His)
c.*996T>C (n.*996T>C)
n.921T>C
c.775T>C (p.Tyr259His)
c.763T>C (p.Tyr255His)
12g.21562986A>TCA6480026GYS2c.994T>A (p.Tyr332Asn)
c.*996T>A (n.*996T>A)
n.921T>A
c.775T>A (p.Tyr259Asn)
c.763T>A (p.Tyr255Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.21562987C>ACA233607133GYS2c.993G>T (p.Arg331Ser)
c.*995G>T (n.*995G>T)
n.920G>T
c.774G>T (p.Arg258Ser)
c.762G>T (p.Arg254Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.21562987C=CA2021178875GYS2c.993G= (p.Arg331=)
c.*995G= (n.*995G=)
n.920G=
c.774G= (p.Arg258=)
c.762G= (p.Arg254=)
12g.21562987C>GCA384132753GYS2c.993G>C (p.Arg331Ser)
c.*995G>C (n.*995G>C)
n.920G>C
c.774G>C (p.Arg258Ser)
c.762G>C (p.Arg254Ser)
12g.21562987C>TCA478869511GYS2c.993G>A (p.Arg331=)
c.*995G>A (n.*995G>A)
n.920G>A
c.774G>A (p.Arg258=)
c.762G>A (p.Arg254=)
 dbSNP gnomAD v2 gnomAD v4
12g.21562988C>ACA384132759GYS2c.992G>T (p.Arg331Met)
c.*994G>T (n.*994G>T)
n.919G>T
c.773G>T (p.Arg258Met)
c.761G>T (p.Arg254Met)
12g.21562988C=CA2021178881GYS2c.992G= (p.Arg331=)
c.*994G= (n.*994G=)
n.919G=
c.773G= (p.Arg258=)
c.761G= (p.Arg254=)
12g.21562988C>GCA384132762GYS2c.992G>C (p.Arg331Thr)
c.*994G>C (n.*994G>C)
n.919G>C
c.773G>C (p.Arg258Thr)
c.761G>C (p.Arg254Thr)
12g.21562988C>TCA6480027GYS2c.992G>A (p.Arg331Lys)
c.*994G>A (n.*994G>A)
n.919G>A
c.773G>A (p.Arg258Lys)
c.761G>A (p.Arg254Lys)
 dbSNP ExAC gnomAD v2 COSMIC
12g.21562989T>ACA384132763GYS2c.991A>T (p.Arg331Trp)
c.*993A>T (n.*993A>T)
n.918A>T
c.772A>T (p.Arg258Trp)
c.760A>T (p.Arg254Trp)
12g.21562989T>CCA384132764GYS2c.991A>G (p.Arg331Gly)
c.*993A>G (n.*993A>G)
n.918A>G
c.772A>G (p.Arg258Gly)
c.760A>G (p.Arg254Gly)
12g.21562989T>GCA478869515GYS2c.991A>C (p.Arg331=)
c.*993A>C (n.*993A>C)
n.918A>C
c.772A>C (p.Arg258=)
c.760A>C (p.Arg254=)
12g.21562990C>ACA478869516GYS2c.990G>T (p.Gly330=)
c.*992G>T (n.*992G>T)
n.917G>T
c.771G>T (p.Gly257=)
c.759G>T (p.Gly253=)
12g.21562990C>GCA478869517GYS2c.990G>C (p.Gly330=)
c.*992G>C (n.*992G>C)
n.917G>C
c.771G>C (p.Gly257=)
c.759G>C (p.Gly253=)
12g.21562990C>TCA478869518GYS2c.990G>A (p.Gly330=)
c.*992G>A (n.*992G>A)
n.917G>A
c.771G>A (p.Gly257=)
c.759G>A (p.Gly253=)
 gnomAD v4
12g.21562991C>ACA233607142GYS2c.989G>T (p.Gly330Val)
c.*991G>T (n.*991G>T)
n.916G>T
c.770G>T (p.Gly257Val)
c.758G>T (p.Gly253Val)
 dbSNP
12g.21562991C=CA2021178884GYS2c.989G= (p.Gly330=)
c.*991G= (n.*991G=)
n.916G=
c.770G= (p.Gly257=)
c.758G= (p.Gly253=)
12g.21562991C>GCA384132768GYS2c.989G>C (p.Gly330Ala)
c.*991G>C (n.*991G>C)
n.916G>C
c.770G>C (p.Gly257Ala)
c.758G>C (p.Gly253Ala)
 dbSNP gnomAD v4
12g.21562991C>TCA384132770GYS2c.989G>A (p.Gly330Glu)
c.*991G>A (n.*991G>A)
n.916G>A
c.770G>A (p.Gly257Glu)
c.758G>A (p.Gly253Glu)
 gnomAD v4
12g.21562992C>ACA384132775GYS2c.988G>T (p.Gly330Trp)
c.*990G>T (n.*990G>T)
n.915G>T
c.769G>T (p.Gly257Trp)
c.757G>T (p.Gly253Trp)
 COSMIC
12g.21562992C>GCA384132787GYS2c.988G>C (p.Gly330Arg)
c.*990G>C (n.*990G>C)
n.915G>C
c.769G>C (p.Gly257Arg)
c.757G>C (p.Gly253Arg)
12g.21562992C>TCA384132791GYS2c.988G>A (p.Gly330Arg)
c.*990G>A (n.*990G>A)
n.915G>A
c.769G>A (p.Gly257Arg)
c.757G>A (p.Gly253Arg)
12g.21562993A>CCA478869522GYS2c.987T>G (p.Ala329=)
c.*989T>G (n.*989T>G)
n.914T>G
c.768T>G (p.Ala256=)
c.756T>G (p.Ala252=)
12g.21562993A>GCA478869520GYS2c.987T>C (p.Ala329=)
c.*989T>C (n.*989T>C)
n.914T>C
c.768T>C (p.Ala256=)
c.756T>C (p.Ala252=)
12g.21562993A>TCA478869519GYS2c.987T>A (p.Ala329=)
c.*989T>A (n.*989T>A)
n.914T>A
c.768T>A (p.Ala256=)
c.756T>A (p.Ala252=)
12g.21562994G>ACA6480028GYS2c.986C>T (p.Ala329Val)
c.*988C>T (n.*988C>T)
n.913C>T
c.767C>T (p.Ala256Val)
c.755C>T (p.Ala252Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.21562994G>CCA384132811GYS2c.986C>G (p.Ala329Gly)
c.*988C>G (n.*988C>G)
n.913C>G
c.767C>G (p.Ala256Gly)
c.755C>G (p.Ala252Gly)
12g.21562994G=CA2021178886GYS2c.986C= (p.Ala329=)
c.*988C= (n.*988C=)
n.913C=
c.767C= (p.Ala256=)
c.755C= (p.Ala252=)
12g.21562994G>TCA384132806GYS2c.986C>A (p.Ala329Asp)
c.*988C>A (n.*988C>A)
n.913C>A
c.767C>A (p.Ala256Asp)
c.755C>A (p.Ala252Asp)
12g.21562995C>ACA384132813GYS2c.985G>T (p.Ala329Ser)
c.*987G>T (n.*987G>T)
n.912G>T
c.766G>T (p.Ala256Ser)
c.754G>T (p.Ala252Ser)
 gnomAD v4
12g.21562995C>GCA384132814GYS2c.985G>C (p.Ala329Pro)
c.*987G>C (n.*987G>C)
n.912G>C
c.766G>C (p.Ala256Pro)
c.754G>C (p.Ala252Pro)
12g.21562995C>TCA384132816GYS2c.985G>A (p.Ala329Thr)
c.*987G>A (n.*987G>A)
n.912G>A
c.766G>A (p.Ala256Thr)
c.754G>A (p.Ala252Thr)
12g.21562995_21562997delCA2725947027GYS2c.983_985del (p.Ile328_Ala329delinsThr)
c.*985_*987del (n.*985_*987del)
n.910_912del
c.764_766del (p.Ile255_Ala256delinsThr)
c.752_754del (p.Ile251_Ala252delinsThr)
 dbSNP
12g.21562996A>CCA384132822GYS2c.984T>G (p.Ile328Met)
c.*986T>G (n.*986T>G)
n.911T>G
c.765T>G (p.Ile255Met)
c.753T>G (p.Ile251Met)
12g.21562996A>GCA478869525GYS2c.984T>C (p.Ile328=)
c.*986T>C (n.*986T>C)
n.911T>C
c.765T>C (p.Ile255=)
c.753T>C (p.Ile251=)
12g.21562996A>TCA478869526GYS2c.984T>A (p.Ile328=)
c.*986T>A (n.*986T>A)
n.911T>A
c.765T>A (p.Ile255=)
c.753T>A (p.Ile251=)
 gnomAD v4
12g.21562997A=CA2021178888GYS2c.983T= (p.Ile328=)
c.*985T= (n.*985T=)
n.910T=
c.764T= (p.Ile255=)
c.752T= (p.Ile251=)
12g.21562997A>CCA384132831GYS2c.983T>G (p.Ile328Ser)
c.*985T>G (n.*985T>G)
n.910T>G
c.764T>G (p.Ile255Ser)
c.752T>G (p.Ile251Ser)
12g.21562997A>GCA384132836GYS2c.983T>C (p.Ile328Thr)
c.*985T>C (n.*985T>C)
n.910T>C
c.764T>C (p.Ile255Thr)
c.752T>C (p.Ile251Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.21562997A>TCA384132846GYS2c.983T>A (p.Ile328Asn)
c.*985T>A (n.*985T>A)
n.910T>A
c.764T>A (p.Ile255Asn)
c.752T>A (p.Ile251Asn)
12g.21562998T>ACA384132850GYS2c.982A>T (p.Ile328Phe)
c.*984A>T (n.*984A>T)
n.909A>T
c.763A>T (p.Ile255Phe)
c.751A>T (p.Ile251Phe)
12g.21562998T>CCA384132852GYS2c.982A>G (p.Ile328Val)
c.*984A>G (n.*984A>G)
n.909A>G
c.763A>G (p.Ile255Val)
c.751A>G (p.Ile251Val)
 dbSNP gnomAD v3 gnomAD v4
12g.21562998T>GCA384132854GYS2c.982A>C (p.Ile328Leu)
c.*984A>C (n.*984A>C)
n.909A>C
c.763A>C (p.Ile255Leu)
c.751A>C (p.Ile251Leu)
12g.21562998T=CA2021178890GYS2c.982A= (p.Ile328=)
c.*984A= (n.*984A=)
n.909A=
c.763A= (p.Ile255=)
c.751A= (p.Ile251=)
12g.21562999G>ACA478869528GYS2c.981C>T (p.Phe327=)
c.*983C>T (n.*983C>T)
n.908C>T
c.762C>T (p.Phe254=)
c.750C>T (p.Phe250=)
 gnomAD v4 COSMIC
12g.21562999G>CCA384132856GYS2c.981C>G (p.Phe327Leu)
c.*983C>G (n.*983C>G)
n.908C>G
c.762C>G (p.Phe254Leu)
c.750C>G (p.Phe250Leu)
12g.21562999G=CA2021178892GYS2c.981C= (p.Phe327=)
c.*983C= (n.*983C=)
n.908C=
c.762C= (p.Phe254=)
c.750C= (p.Phe250=)
12g.21562999G>TCA384132861GYS2c.981C>A (p.Phe327Leu)
c.*983C>A (n.*983C>A)
n.908C>A
c.762C>A (p.Phe254Leu)
c.750C>A (p.Phe250Leu)
 dbSNP
12g.21563000A>CCA384132866GYS2c.980T>G (p.Phe327Cys)
c.*982T>G (n.*982T>G)
n.907T>G
c.761T>G (p.Phe254Cys)
c.749T>G (p.Phe250Cys)
12g.21563000A>GCA384132890GYS2c.980T>C (p.Phe327Ser)
c.*982T>C (n.*982T>C)
n.907T>C
c.761T>C (p.Phe254Ser)
c.749T>C (p.Phe250Ser)
12g.21563000A>TCA384132899GYS2c.980T>A (p.Phe327Tyr)
c.*982T>A (n.*982T>A)
n.907T>A
c.761T>A (p.Phe254Tyr)
c.749T>A (p.Phe250Tyr)
12g.21563001A>CCA384132903GYS2c.979T>G (p.Phe327Val)
c.*981T>G (n.*981T>G)
n.906T>G
c.760T>G (p.Phe254Val)
c.748T>G (p.Phe250Val)
12g.21563001A>GCA384132906GYS2c.979T>C (p.Phe327Leu)
c.*981T>C (n.*981T>C)
n.906T>C
c.760T>C (p.Phe254Leu)
c.748T>C (p.Phe250Leu)
12g.21563001A>TCA384132910GYS2c.979T>A (p.Phe327Ile)
c.*981T>A (n.*981T>A)
n.906T>A
c.760T>A (p.Phe254Ile)
c.748T>A (p.Phe250Ile)
12g.21563002A>CCA478869531GYS2c.978T>G (p.Leu326=)
c.*980T>G (n.*980T>G)
n.905T>G
c.759T>G (p.Leu253=)
c.747T>G (p.Leu249=)
12g.21563002A>GCA478869532GYS2c.978T>C (p.Leu326=)
c.*980T>C (n.*980T>C)
n.905T>C
c.759T>C (p.Leu253=)
c.747T>C (p.Leu249=)
 gnomAD v4
12g.21563002A>TCA478869533GYS2c.978T>A (p.Leu326=)
c.*980T>A (n.*980T>A)
n.905T>A
c.759T>A (p.Leu253=)
c.747T>A (p.Leu249=)
12g.21563003A>CCA384132928GYS2c.977T>G (p.Leu326Arg)
c.*979T>G (n.*979T>G)
n.904T>G
c.758T>G (p.Leu253Arg)
c.746T>G (p.Leu249Arg)
 gnomAD v4
12g.21563003A>GCA384132920GYS2c.977T>C (p.Leu326Pro)
c.*979T>C (n.*979T>C)
n.904T>C
c.758T>C (p.Leu253Pro)
c.746T>C (p.Leu249Pro)
 gnomAD v4
12g.21563003A>TCA384132925GYS2c.977T>A (p.Leu326His)
c.*979T>A (n.*979T>A)
n.904T>A
c.758T>A (p.Leu253His)
c.746T>A (p.Leu249His)
12g.21563004G>ACA384132930GYS2c.976C>T (p.Leu326Phe)
c.*978C>T (n.*978C>T)
n.903C>T
c.757C>T (p.Leu253Phe)
c.745C>T (p.Leu249Phe)
12g.21563004G>CCA384132931GYS2c.976C>G (p.Leu326Val)
c.*978C>G (n.*978C>G)
n.903C>G
c.757C>G (p.Leu253Val)
c.745C>G (p.Leu249Val)
12g.21563004G>TCA384132934GYS2c.976C>A (p.Leu326Ile)
c.*978C>A (n.*978C>A)
n.903C>A
c.757C>A (p.Leu253Ile)
c.745C>A (p.Leu249Ile)
12g.21563004_21563005delCA2617923607GYS2c.975_976del (p.Leu326PhefsTer7)
c.*977_*978del (n.*977_*978del)
n.902_903del
c.756_757del (p.Leu253PhefsTer7)
c.744_745del (p.Leu249PhefsTer7)
 gnomAD v4
12g.21563005G>ACA478869537GYS2c.975C>T (p.Phe325=)
c.*977C>T (n.*977C>T)
n.902C>T
c.756C>T (p.Phe252=)
c.744C>T (p.Phe248=)
12g.21563005G>CCA384132946GYS2c.975C>G (p.Phe325Leu)
c.*977C>G (n.*977C>G)
n.902C>G
c.756C>G (p.Phe252Leu)
c.744C>G (p.Phe248Leu)
12g.21563005G>TCA384132963GYS2c.975C>A (p.Phe325Leu)
c.*977C>A (n.*977C>A)
n.902C>A
c.756C>A (p.Phe252Leu)
c.744C>A (p.Phe248Leu)
12g.21563005_21563080delinsGAACAAAGTCTTTTCAAGATCAAAGTCGAGATGACTAAAACAAAACAAAACCAAACAGTTTCAAATGAAATACAGCCA2021178894GYS2c.942-42_975delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC
c.*944-42_*977delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC
n.869-42_902delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC
c.723-42_756delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC
c.711-42_744delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC
12g.21563006A>CCA384132968GYS2c.974T>G (p.Phe325Cys)
c.*976T>G (n.*976T>G)
n.901T>G
c.755T>G (p.Phe252Cys)
c.743T>G (p.Phe248Cys)
12g.21563006A>GCA384133003GYS2c.974T>C (p.Phe325Ser)
c.*976T>C (n.*976T>C)
n.901T>C
c.755T>C (p.Phe252Ser)
c.743T>C (p.Phe248Ser)
12g.21563006A>TCA384132975GYS2c.974T>A (p.Phe325Tyr)
c.*976T>A (n.*976T>A)
n.901T>A
c.755T>A (p.Phe252Tyr)
c.743T>A (p.Phe248Tyr)
12g.21563010_21563084delCA322856GYS2c.942-42_974del
c.*944-42_*976del
n.869-42_901del
c.723-42_755del
c.711-42_743del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.21563007A>CCA384133010GYS2c.973T>G (p.Phe325Val)
c.*975T>G (n.*975T>G)
n.900T>G
c.754T>G (p.Phe252Val)
c.742T>G (p.Phe248Val)
12g.21563007A>GCA384133013GYS2c.973T>C (p.Phe325Leu)
c.*975T>C (n.*975T>C)
n.900T>C
c.754T>C (p.Phe252Leu)
c.742T>C (p.Phe248Leu)
 gnomAD v4
12g.21563007A>TCA384133016GYS2c.973T>A (p.Phe325Ile)
c.*975T>A (n.*975T>A)
n.900T>A
c.754T>A (p.Phe252Ile)
c.742T>A (p.Phe248Ile)
12g.21563008C>ACA384133032GYS2c.972G>T (p.Leu324Phe)
c.*974G>T (n.*974G>T)
n.899G>T
c.753G>T (p.Leu251Phe)
c.741G>T (p.Leu247Phe)
12g.21563008C>GCA384133040GYS2c.972G>C (p.Leu324Phe)
c.*974G>C (n.*974G>C)
n.899G>C
c.753G>C (p.Leu251Phe)
c.741G>C (p.Leu247Phe)
12g.21563008C>TCA478869538GYS2c.972G>A (p.Leu324=)
c.*974G>A (n.*974G>A)
n.899G>A
c.753G>A (p.Leu251=)
c.741G>A (p.Leu247=)
12g.21563009A>CCA384133048GYS2c.971T>G (p.Leu324Trp)
c.*973T>G (n.*973T>G)
n.898T>G
c.752T>G (p.Leu251Trp)
c.740T>G (p.Leu247Trp)
12g.21563009A>GCA384133049GYS2c.971T>C (p.Leu324Ser)
c.*973T>C (n.*973T>C)
n.898T>C
c.752T>C (p.Leu251Ser)
c.740T>C (p.Leu247Ser)
12g.21563009A>TCA384133050GYS2c.971T>A (p.Leu324Ter)
c.*973T>A (n.*973T>A)
n.898T>A
c.752T>A (p.Leu251Ter)
c.740T>A (p.Leu247Ter)
12g.21563010A=CA2021178901GYS2c.970T= (p.Leu324=)
c.*972T= (n.*972T=)
n.897T=
c.751T= (p.Leu251=)
c.739T= (p.Leu247=)
12g.21563010A>CCA6480029GYS2c.970T>G (p.Leu324Val)
c.*972T>G (n.*972T>G)
n.897T>G
c.751T>G (p.Leu251Val)
c.739T>G (p.Leu247Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.21563010A>GCA478869540GYS2c.970T>C (p.Leu324=)
c.*972T>C (n.*972T>C)
n.897T>C
c.751T>C (p.Leu251=)
c.739T>C (p.Leu247=)
12g.21563010A>TCA384133055GYS2c.970T>A (p.Leu324Met)
c.*972T>A (n.*972T>A)
n.897T>A
c.751T>A (p.Leu251Met)
c.739T>A (p.Leu247Met)
12g.21563011A=CA2021178903GYS2c.969T= (p.Thr323=)
c.*971T= (n.*971T=)
n.896T=
c.750T= (p.Thr250=)
c.738T= (p.Thr246=)
12g.21563011A>CCA478869541GYS2c.969T>G (p.Thr323=)
c.*971T>G (n.*971T>G)
n.896T>G
c.750T>G (p.Thr250=)
c.738T>G (p.Thr246=)
12g.21563011A>GCA478869542GYS2c.969T>C (p.Thr323=)
c.*971T>C (n.*971T>C)
n.896T>C
c.750T>C (p.Thr250=)
c.738T>C (p.Thr246=)
 dbSNP gnomAD v4
12g.21563011A>TCA478869543GYS2c.969T>A (p.Thr323=)
c.*971T>A (n.*971T>A)
n.896T>A
c.750T>A (p.Thr250=)
c.738T>A (p.Thr246=)
12g.21563012G>ACA6480030GYS2c.968C>T (p.Thr323Ile)
c.*970C>T (n.*970C>T)
n.895C>T
c.749C>T (p.Thr250Ile)
c.737C>T (p.Thr246Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.21563012G>CCA384133072GYS2c.968C>G (p.Thr323Ser)
c.*970C>G (n.*970C>G)
n.895C>G
c.749C>G (p.Thr250Ser)
c.737C>G (p.Thr246Ser)
12g.21563012G=CA2021178908GYS2c.968C= (p.Thr323=)
c.*970C= (n.*970C=)
n.895C=
c.749C= (p.Thr250=)
c.737C= (p.Thr246=)
12g.21563012G>TCA384133059GYS2c.968C>A (p.Thr323Asn)
c.*970C>A (n.*970C>A)
n.895C>A
c.749C>A (p.Thr250Asn)
c.737C>A (p.Thr246Asn)
12g.21563012_21563013delinsGTCA2021178906GYS2c.967_968delinsAC (p.Thr323=)
c.*969_*970delinsAC (n.*969_*970delinsAC)
n.894_895delinsAC
c.748_749delinsAC (p.Thr250=)
c.736_737delinsAC (p.Thr246=)
12g.21563013delCA6480031GYS2c.967del (p.Thr323LeufsTer21)
c.*969del (n.*969del)
n.894del
c.748del (p.Thr250LeufsTer21)
c.736del (p.Thr246LeufsTer21)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21563013T>ACA384133082GYS2c.967A>T (p.Thr323Ser)
c.*969A>T (n.*969A>T)
n.894A>T
c.748A>T (p.Thr250Ser)
c.736A>T (p.Thr246Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.21563013T>CCA6480032GYS2c.967A>G (p.Thr323Ala)
c.*969A>G (n.*969A>G)
n.894A>G
c.748A>G (p.Thr250Ala)
c.736A>G (p.Thr246Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.21563013T>GCA384133083GYS2c.967A>C (p.Thr323Pro)
c.*969A>C (n.*969A>C)
n.894A>C
c.748A>C (p.Thr250Pro)
c.736A>C (p.Thr246Pro)
 gnomAD v4
12g.21563013T=CA2021178917GYS2c.967A= (p.Thr323=)
c.*969A= (n.*969A=)
n.894A=
c.748A= (p.Thr250=)
c.736A= (p.Thr246=)
12g.21563013_21563014delinsGCA2695196495GYS2c.966_967delinsC (p.Lys322AsnfsTer22)
c.*968_*969delinsC (n.*968_*969delinsC)
n.893_894delinsC
c.747_748delinsC (p.Lys249AsnfsTer22)
c.735_736delinsC (p.Lys245AsnfsTer22)
12g.21563014C>ACA384133084GYS2c.966G>T (p.Lys322Asn)
c.*968G>T (n.*968G>T)
n.893G>T
c.747G>T (p.Lys249Asn)
c.735G>T (p.Lys245Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.21563014C=CA2021178922GYS2c.966G= (p.Lys322=)
c.*968G= (n.*968G=)
n.893G=
c.747G= (p.Lys249=)
c.735G= (p.Lys245=)
12g.21563014C>GCA6480033GYS2c.966G>C (p.Lys322Asn)
c.*968G>C (n.*968G>C)
n.893G>C
c.747G>C (p.Lys249Asn)
c.735G>C (p.Lys245Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21563014C>TCA478869545GYS2c.966G>A (p.Lys322=)
c.*968G>A (n.*968G>A)
n.893G>A
c.747G>A (p.Lys249=)
c.735G>A (p.Lys245=)
12g.21563015T>ACA384133093GYS2c.965A>T (p.Lys322Met)
c.*967A>T (n.*967A>T)
n.892A>T
c.746A>T (p.Lys249Met)
c.734A>T (p.Lys245Met)
12g.21563015T>CCA384133095GYS2c.965A>G (p.Lys322Arg)
c.*967A>G (n.*967A>G)
n.892A>G
c.746A>G (p.Lys249Arg)
c.734A>G (p.Lys245Arg)
 gnomAD v4
12g.21563015T>GCA384133096GYS2c.965A>C (p.Lys322Thr)
c.*967A>C (n.*967A>C)
n.892A>C
c.746A>C (p.Lys249Thr)
c.734A>C (p.Lys245Thr)
 dbSNP
12g.21563015T=CA2021178930GYS2c.965A= (p.Lys322=)
c.*967A= (n.*967A=)
n.892A=
c.746A= (p.Lys249=)
c.734A= (p.Lys245=)
12g.21563016T>ACA384133098GYS2c.964A>T (p.Lys322Ter)
c.*966A>T (n.*966A>T)
n.891A>T
c.745A>T (p.Lys249Ter)
c.733A>T (p.Lys245Ter)
12g.21563016T>CCA384133105GYS2c.964A>G (p.Lys322Glu)
c.*966A>G (n.*966A>G)
n.891A>G
c.745A>G (p.Lys249Glu)
c.733A>G (p.Lys245Glu)
12g.21563016T>GCA384133110GYS2c.964A>C (p.Lys322Gln)
c.*966A>C (n.*966A>C)
n.891A>C
c.745A>C (p.Lys249Gln)
c.733A>C (p.Lys245Gln)
12g.21563017T>ACA384133114GYS2c.963A>T (p.Glu321Asp)
c.*965A>T (n.*965A>T)
n.890A>T
c.744A>T (p.Glu248Asp)
c.732A>T (p.Glu244Asp)
12g.21563017T>CCA478869546GYS2c.963A>G (p.Glu321=)
c.*965A>G (n.*965A>G)
n.890A>G
c.744A>G (p.Glu248=)
c.732A>G (p.Glu244=)
12g.21563017T>GCA384133119GYS2c.963A>C (p.Glu321Asp)
c.*965A>C (n.*965A>C)
n.890A>C
c.744A>C (p.Glu248Asp)
c.732A>C (p.Glu244Asp)
12g.21563018T>ACA384133123GYS2c.962A>T (p.Glu321Val)
c.*964A>T (n.*964A>T)
n.889A>T
c.743A>T (p.Glu248Val)
c.731A>T (p.Glu244Val)
 dbSNP gnomAD v3 gnomAD v4
12g.21563018T>CCA384133124GYS2c.962A>G (p.Glu321Gly)
c.*964A>G (n.*964A>G)
n.889A>G
c.743A>G (p.Glu248Gly)
c.731A>G (p.Glu244Gly)
12g.21563018T>GCA384133126GYS2c.962A>C (p.Glu321Ala)
c.*964A>C (n.*964A>C)
n.889A>C
c.743A>C (p.Glu248Ala)
c.731A>C (p.Glu244Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.21563018T=CA2021178935GYS2c.962A= (p.Glu321=)
c.*964A= (n.*964A=)
n.889A=
c.743A= (p.Glu248=)
c.731A= (p.Glu244=)
12g.21563019C>ACA384133136GYS2c.961G>T (p.Glu321Ter)
c.*963G>T (n.*963G>T)
n.888G>T
c.742G>T (p.Glu248Ter)
c.730G>T (p.Glu244Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.21563019C=CA2021178939GYS2c.961G= (p.Glu321=)
c.*963G= (n.*963G=)
n.888G=
c.742G= (p.Glu248=)
c.730G= (p.Glu244=)
12g.21563019C>GCA384133132GYS2c.961G>C (p.Glu321Gln)
c.*963G>C (n.*963G>C)
n.888G>C
c.742G>C (p.Glu248Gln)
c.730G>C (p.Glu244Gln)
12g.21563019C>TCA384133135GYS2c.961G>A (p.Glu321Lys)
c.*963G>A (n.*963G>A)
n.888G>A
c.742G>A (p.Glu248Lys)
c.730G>A (p.Glu244Lys)
 COSMIC
12g.21563020A>CCA478869547GYS2c.960T>G (p.Leu320=)
c.*962T>G (n.*962T>G)
n.887T>G
c.741T>G (p.Leu247=)
c.729T>G (p.Leu243=)
12g.21563020A>GCA478869548GYS2c.960T>C (p.Leu320=)
c.*962T>C (n.*962T>C)
n.887T>C
c.741T>C (p.Leu247=)
c.729T>C (p.Leu243=)
12g.21563020A>TCA478869549GYS2c.960T>A (p.Leu320=)
c.*962T>A (n.*962T>A)
n.887T>A
c.741T>A (p.Leu247=)
c.729T>A (p.Leu243=)
12g.21563021A>CCA384133140GYS2c.959T>G (p.Leu320Arg)
c.*961T>G (n.*961T>G)
n.886T>G
c.740T>G (p.Leu247Arg)
c.728T>G (p.Leu243Arg)
12g.21563021A>GCA384133143GYS2c.959T>C (p.Leu320Pro)
c.*961T>C (n.*961T>C)
n.886T>C
c.740T>C (p.Leu247Pro)
c.728T>C (p.Leu243Pro)
12g.21563021A>TCA384133144GYS2c.959T>A (p.Leu320His)
c.*961T>A (n.*961T>A)
n.886T>A
c.740T>A (p.Leu247His)
c.728T>A (p.Leu243His)
12g.21563022G>ACA384133145GYS2c.958C>T (p.Leu320Phe)
c.*960C>T (n.*960C>T)
n.885C>T
c.739C>T (p.Leu247Phe)
c.727C>T (p.Leu243Phe)
12g.21563022G>CCA384133147GYS2c.958C>G (p.Leu320Val)
c.*960C>G (n.*960C>G)
n.885C>G
c.739C>G (p.Leu247Val)
c.727C>G (p.Leu243Val)
 gnomAD v4
12g.21563022G>TCA384133149GYS2c.958C>A (p.Leu320Ile)
c.*960C>A (n.*960C>A)
n.885C>A
c.739C>A (p.Leu247Ile)
c.727C>A (p.Leu243Ile)
12g.21563023A>CCA384133151GYS2c.957T>G (p.Asp319Glu)
c.*959T>G (n.*959T>G)
n.884T>G
c.738T>G (p.Asp246Glu)
c.726T>G (p.Asp242Glu)
12g.21563023A>GCA478869552GYS2c.957T>C (p.Asp319=)
c.*959T>C (n.*959T>C)
n.884T>C
c.738T>C (p.Asp246=)
c.726T>C (p.Asp242=)
12g.21563023A>TCA384133152GYS2c.957T>A (p.Asp319Glu)
c.*959T>A (n.*959T>A)
n.884T>A
c.738T>A (p.Asp246Glu)
c.726T>A (p.Asp242Glu)
12g.21563024T>ACA16603182GYS2c.956A>T (p.Asp319Val)
c.*958A>T (n.*958A>T)
n.883A>T
c.737A>T (p.Asp246Val)
c.725A>T (p.Asp242Val)
 ClinVar dbSNP
12g.21563024T>CCA384133154GYS2c.956A>G (p.Asp319Gly)
c.*958A>G (n.*958A>G)
n.883A>G
c.737A>G (p.Asp246Gly)
c.725A>G (p.Asp242Gly)
12g.21563024T>GCA384133160GYS2c.956A>C (p.Asp319Ala)
c.*958A>C (n.*958A>C)
n.883A>C
c.737A>C (p.Asp246Ala)
c.725A>C (p.Asp242Ala)
 gnomAD v4
12g.21563024T=CA2021178943GYS2c.956A= (p.Asp319=)
c.*958A= (n.*958A=)
n.883A=
c.737A= (p.Asp246=)
c.725A= (p.Asp242=)
12g.21563025C>ACA384133166GYS2c.955G>T (p.Asp319Tyr)
c.*957G>T (n.*957G>T)
n.882G>T
c.736G>T (p.Asp246Tyr)
c.724G>T (p.Asp242Tyr)
12g.21563025C>GCA384133168GYS2c.955G>C (p.Asp319His)
c.*957G>C (n.*957G>C)
n.882G>C
c.736G>C (p.Asp246His)
c.724G>C (p.Asp242His)
12g.21563025C>TCA384133164GYS2c.955G>A (p.Asp319Asn)
c.*957G>A (n.*957G>A)
n.882G>A
c.736G>A (p.Asp246Asn)
c.724G>A (p.Asp242Asn)
12g.21563026A>CCA384133171GYS2c.954T>G (p.Phe318Leu)
c.*956T>G (n.*956T>G)
n.881T>G
c.735T>G (p.Phe245Leu)
c.723T>G (p.Phe241Leu)
12g.21563026A>GCA478869555GYS2c.954T>C (p.Phe318=)
c.*956T>C (n.*956T>C)
n.881T>C
c.735T>C (p.Phe245=)
c.723T>C (p.Phe241=)
12g.21563026A>TCA384133174GYS2c.954T>A (p.Phe318Leu)
c.*956T>A (n.*956T>A)
n.881T>A
c.735T>A (p.Phe245Leu)
c.723T>A (p.Phe241Leu)
12g.21563027A>CCA384133175GYS2c.953T>G (p.Phe318Cys)
c.*955T>G (n.*955T>G)
n.880T>G
c.734T>G (p.Phe245Cys)
c.722T>G (p.Phe241Cys)
12g.21563027A>GCA384133177GYS2c.953T>C (p.Phe318Ser)
c.*955T>C (n.*955T>C)
n.880T>C
c.734T>C (p.Phe245Ser)
c.722T>C (p.Phe241Ser)
12g.21563027A>TCA384133180GYS2c.953T>A (p.Phe318Tyr)
c.*955T>A (n.*955T>A)
n.880T>A
c.734T>A (p.Phe245Tyr)
c.722T>A (p.Phe241Tyr)
12g.21563028A>CCA384133196GYS2c.952T>G (p.Phe318Val)
c.*954T>G (n.*954T>G)
n.879T>G
c.733T>G (p.Phe245Val)
c.721T>G (p.Phe241Val)
12g.21563028A>GCA384133199GYS2c.952T>C (p.Phe318Leu)
c.*954T>C (n.*954T>C)
n.879T>C
c.733T>C (p.Phe245Leu)
c.721T>C (p.Phe241Leu)
12g.21563028A>TCA384133200GYS2c.952T>A (p.Phe318Ile)
c.*954T>A (n.*954T>A)
n.879T>A
c.733T>A (p.Phe245Ile)
c.721T>A (p.Phe241Ile)
12g.21563029G>ACA478869557GYS2c.951C>T (p.Asp317=)
c.*953C>T (n.*953C>T)
n.878C>T
c.732C>T (p.Asp244=)
c.720C>T (p.Asp240=)
12g.21563029G>CCA384133203GYS2c.951C>G (p.Asp317Glu)
c.*953C>G (n.*953C>G)
n.878C>G
c.732C>G (p.Asp244Glu)
c.720C>G (p.Asp240Glu)
12g.21563029G>TCA384133205GYS2c.951C>A (p.Asp317Glu)
c.*953C>A (n.*953C>A)
n.878C>A
c.732C>A (p.Asp244Glu)
c.720C>A (p.Asp240Glu)
12g.21563030T>ACA384133208GYS2c.950A>T (p.Asp317Val)
c.*952A>T (n.*952A>T)
n.877A>T
c.731A>T (p.Asp244Val)
c.719A>T (p.Asp240Val)
12g.21563030T>CCA384133213GYS2c.950A>G (p.Asp317Gly)
c.*952A>G (n.*952A>G)
n.877A>G
c.731A>G (p.Asp244Gly)
c.719A>G (p.Asp240Gly)
 gnomAD v4
12g.21563030T>GCA384133214GYS2c.950A>C (p.Asp317Ala)
c.*952A>C (n.*952A>C)
n.877A>C
c.731A>C (p.Asp244Ala)
c.719A>C (p.Asp240Ala)
 gnomAD v4
12g.21563031C>ACA384133224GYS2c.949G>T (p.Asp317Tyr)
c.*951G>T (n.*951G>T)
n.876G>T
c.730G>T (p.Asp244Tyr)
c.718G>T (p.Asp240Tyr)
 gnomAD v4
12g.21563031C=CA2021178949GYS2c.949G= (p.Asp317=)
c.*951G= (n.*951G=)
n.876G=
c.730G= (p.Asp244=)
c.718G= (p.Asp240=)
12g.21563031C>GCA384133219GYS2c.949G>C (p.Asp317His)
c.*951G>C (n.*951G>C)
n.876G>C
c.730G>C (p.Asp244His)
c.718G>C (p.Asp240His)
12g.21563031C>TCA6480034GYS2c.949G>A (p.Asp317Asn)
c.*951G>A (n.*951G>A)
n.876G>A
c.730G>A (p.Asp244Asn)
c.718G>A (p.Asp240Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21563031_21563032delinsCGCA2021178951GYS2c.948_949delinsCG (p.Leu316=)
c.*950_*951delinsCG (n.*950_*951delinsCG)
n.875_876delinsCG
c.729_730delinsCG (p.Leu243=)
c.717_718delinsCG (p.Leu239=)
12g.21563032delCA603675579GYS2c.948del (p.Asp317ThrfsTer27)
c.*950del (n.*950del)
n.875del
c.729del (p.Asp244ThrfsTer27)
c.717del (p.Asp240ThrfsTer27)
 dbSNP gnomAD v2 gnomAD v4
12g.21563032G>ACA6480035GYS2c.948C>T (p.Leu316=)
c.*950C>T (n.*950C>T)
n.875C>T
c.729C>T (p.Leu243=)
c.717C>T (p.Leu239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.21563032G>CCA478869560GYS2c.948C>G (p.Leu316=)
c.*950C>G (n.*950C>G)
n.875C>G
c.729C>G (p.Leu243=)
c.717C>G (p.Leu239=)
12g.21563032G=CA2021178957GYS2c.948C= (p.Leu316=)
c.*950C= (n.*950C=)
n.875C=
c.729C= (p.Leu243=)
c.717C= (p.Leu239=)
12g.21563032G>TCA478869561GYS2c.948C>A (p.Leu316=)
c.*950C>A (n.*950C>A)
n.875C>A
c.729C>A (p.Leu243=)
c.717C>A (p.Leu239=)
 gnomAD v4
12g.21563033A=CA2021178962GYS2c.947T= (p.Leu316=)
c.*949T= (n.*949T=)
n.874T=
c.728T= (p.Leu243=)
c.716T= (p.Leu239=)
12g.21563033A>CCA384133232GYS2c.947T>G (p.Leu316Arg)
c.*949T>G (n.*949T>G)
n.874T>G
c.728T>G (p.Leu243Arg)
c.716T>G (p.Leu239Arg)
12g.21563033A>GCA384133237GYS2c.947T>C (p.Leu316Pro)
c.*949T>C (n.*949T>C)
n.874T>C
c.728T>C (p.Leu243Pro)
c.716T>C (p.Leu239Pro)
 dbSNP gnomAD v4
12g.21563033A>TCA384133239GYS2c.947T>A (p.Leu316His)
c.*949T>A (n.*949T>A)
n.874T>A
c.728T>A (p.Leu243His)
c.716T>A (p.Leu239His)
12g.21563034G>ACA384133241GYS2c.946C>T (p.Leu316Phe)
c.*948C>T (n.*948C>T)
n.873C>T
c.727C>T (p.Leu243Phe)
c.715C>T (p.Leu239Phe)
 gnomAD v4
12g.21563034G>CCA384133247GYS2c.946C>G (p.Leu316Val)
c.*948C>G (n.*948C>G)
n.873C>G
c.727C>G (p.Leu243Val)
c.715C>G (p.Leu239Val)
12g.21563034G>TCA384133253GYS2c.946C>A (p.Leu316Ile)
c.*948C>A (n.*948C>A)
n.873C>A
c.727C>A (p.Leu243Ile)
c.715C>A (p.Leu239Ile)
 gnomAD v4
12g.21563035A>CCA384133257GYS2c.945T>G (p.His315Gln)
c.*947T>G (n.*947T>G)
n.872T>G
c.726T>G (p.His242Gln)
c.714T>G (p.His238Gln)
12g.21563035A>GCA478869562GYS2c.945T>C (p.His315=)
c.*947T>C (n.*947T>C)
n.872T>C
c.726T>C (p.His242=)
c.714T>C (p.His238=)
12g.21563035A>TCA384133258GYS2c.945T>A (p.His315Gln)
c.*947T>A (n.*947T>A)
n.872T>A
c.726T>A (p.His242Gln)
c.714T>A (p.His238Gln)
12g.21563036T>ACA384133259GYS2c.944A>T (p.His315Leu)
c.*946A>T (n.*946A>T)
n.871A>T
c.725A>T (p.His242Leu)
c.713A>T (p.His238Leu)
12g.21563036T>CCA384133260GYS2c.944A>G (p.His315Arg)
c.*946A>G (n.*946A>G)
n.871A>G
c.725A>G (p.His242Arg)
c.713A>G (p.His238Arg)
 gnomAD v4
12g.21563036T>GCA384133262GYS2c.944A>C (p.His315Pro)
c.*946A>C (n.*946A>C)
n.871A>C
c.725A>C (p.His242Pro)
c.713A>C (p.His238Pro)
12g.21563037G>ACA384133280GYS2c.943C>T (p.His315Tyr)
c.*945C>T (n.*945C>T)
n.870C>T
c.724C>T (p.His242Tyr)
c.712C>T (p.His238Tyr)
12g.21563037G>CCA384133269GYS2c.943C>G (p.His315Asp)
c.*945C>G (n.*945C>G)
n.870C>G
c.724C>G (p.His242Asp)
c.712C>G (p.His238Asp)
12g.21563037G>TCA384133265GYS2c.943C>A (p.His315Asn)
c.*945C>A (n.*945C>A)
n.870C>A
c.724C>A (p.His242Asn)
c.712C>A (p.His238Asn)
 gnomAD v4
12g.21563038A>CCA478869564GYS2c.942T>G (p.Gly314=)
c.*944T>G (n.*944T>G)
n.869T>G
c.723T>G (p.Gly241=)
c.711T>G (p.Gly237=)
12g.21563038A>GCA478869565GYS2c.942T>C (p.Gly314=)
c.*944T>C (n.*944T>C)
n.869T>C
c.723T>C (p.Gly241=)
c.711T>C (p.Gly237=)
 gnomAD v4
12g.21563038A>TCA478869566GYS2c.942T>A (p.Gly314=)
c.*944T>A (n.*944T>A)
n.869T>A
c.723T>A (p.Gly241=)
c.711T>A (p.Gly237=)
 gnomAD v4
12g.21563039C>ACA384133281GYS2c.942-1G>T (n.942-1G>T)
c.*944-1G>T (n.*944-1G>T)
n.869-1G>T
c.723-1G>T (n.723-1G>T)
c.711-1G>T (n.711-1G>T)
12g.21563039C>GCA384133286GYS2c.942-1G>C (n.942-1G>C)
c.*944-1G>C (n.*944-1G>C)
n.869-1G>C
c.723-1G>C (n.723-1G>C)
c.711-1G>C (n.711-1G>C)
12g.21563039C>TCA384133283GYS2c.942-1G>A (n.942-1G>A)
c.*944-1G>A (n.*944-1G>A)
n.869-1G>A
c.723-1G>A (n.723-1G>A)
c.711-1G>A (n.711-1G>A)
12g.21563040T>ACA6480036GYS2c.942-2A>T (n.942-2A>T)
c.*944-2A>T (n.*944-2A>T)
n.869-2A>T
c.723-2A>T (n.723-2A>T)
c.711-2A>T (n.711-2A>T)
 dbSNP ExAC gnomAD v4
12g.21563040T>CCA384133293GYS2c.942-2A>G (n.942-2A>G)
c.*944-2A>G (n.*944-2A>G)
n.869-2A>G
c.723-2A>G (n.723-2A>G)
c.711-2A>G (n.711-2A>G)
 ClinVar dbSNP gnomAD v4
12g.21563040T>GCA384133295GYS2c.942-2A>C (n.942-2A>C)
c.*944-2A>C (n.*944-2A>C)
n.869-2A>C
c.723-2A>C (n.723-2A>C)
c.711-2A>C (n.711-2A>C)
12g.21563040T=CA2021178966GYS2c.942-2A= (n.942-2A=)
c.*944-2A= (n.*944-2A=)
n.869-2A=
c.723-2A= (n.723-2A=)
c.711-2A= (n.711-2A=)
12g.21563040_21563045delinsTAAAACCA2021178965GYS2c.942-7_942-2delinsGTTTTA (n.942-7_942-2delinsGTTTTA)
c.*944-7_*944-2delinsGTTTTA (n.*944-7_*944-2delinsGTTTTA)
n.869-7_869-2delinsGTTTTA
c.723-7_723-2delinsGTTTTA (n.723-7_723-2delinsGTTTTA)
c.711-7_711-2delinsGTTTTA (n.711-7_711-2delinsGTTTTA)
12g.21563041_21563044dupCA603675592GYS2c.942-6_942-3dup (n.942-6_942-3dup)
c.*944-6_*944-3dup (n.*944-6_*944-3dup)
n.869-6_869-3dup
c.723-6_723-3dup (n.723-6_723-3dup)
c.711-6_711-3dup (n.711-6_711-3dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.21563051_21563055dupCA2575098464GYS2c.942-7_942-3dup (n.942-7_942-3dup)
c.*944-7_*944-3dup (n.*944-7_*944-3dup)
n.869-7_869-3dup
c.723-7_723-3dup (n.723-7_723-3dup)
c.711-7_711-3dup (n.711-7_711-3dup)
 gnomAD v4
12g.21563051_21563055delCA603675591GYS2c.942-7_942-3del (n.942-7_942-3del)
c.*944-7_*944-3del (n.*944-7_*944-3del)
n.869-7_869-3del
c.723-7_723-3del (n.723-7_723-3del)
c.711-7_711-3del (n.711-7_711-3del)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched