Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.121626963G>ACA2067977494ORAI1n.425+30G>A
c.216G>A (p.Gln72=)
n.414G>A
c.27G>A (p.Gln9=)
ClinVar dbSNP gnomAD v4
12g.121626963G>CCA386980985ORAI1n.425+30G>C
c.216G>C (p.Gln72His)
n.414G>C
c.27G>C (p.Gln9His)
12g.121626963G=CA2067977493ORAI1n.425+30G=
c.216G= (p.Gln72=)
n.414G=
c.27G= (p.Gln9=)
12g.121626963G>TCA386980986ORAI1n.425+30G>T
c.216G>T (p.Gln72His)
n.414G>T
c.27G>T (p.Gln9His)
12g.121626964G>ACA386980987ORAI1n.425+31G>A
c.217G>A (p.Ala73Thr)
n.415G>A
c.28G>A (p.Ala10Thr)
dbSNP gnomAD v4
12g.121626964G>CCA386980988ORAI1n.425+31G>C
c.217G>C (p.Ala73Pro)
n.415G>C
c.28G>C (p.Ala10Pro)
12g.121626964G=CA2067977495ORAI1n.425+31G=
c.217G= (p.Ala73=)
n.415G=
c.28G= (p.Ala10=)
12g.121626964G>TCA386980989ORAI1n.425+31G>T
c.217G>T (p.Ala73Ser)
n.415G>T
c.28G>T (p.Ala10Ser)
dbSNP
12g.121626965C>ACA386980990ORAI1n.425+32C>A
c.218C>A (p.Ala73Glu)
n.416C>A
c.29C>A (p.Ala10Glu)
12g.121626965C=CA2067977496ORAI1n.425+32C=
c.218C= (p.Ala73=)
n.416C=
c.29C= (p.Ala10=)
12g.121626965C>GCA386980991ORAI1n.425+32C>G
c.218C>G (p.Ala73Gly)
n.416C>G
c.29C>G (p.Ala10Gly)
12g.121626965C>TCA244608560ORAI1n.425+32C>T
c.218C>T (p.Ala73Val)
n.416C>T
c.29C>T (p.Ala10Val)
dbSNP gnomAD v4
12g.121626966G>ACA2621442510ORAI1n.425+33G>A
c.219G>A (p.Ala73=)
n.417G>A
c.30G>A (p.Ala10=)
gnomAD v4
12g.121626966G>CCA2067977498ORAI1n.425+33G>C
c.219G>C (p.Ala73=)
n.417G>C
c.30G>C (p.Ala10=)
dbSNP
12g.121626966G=CA2067977497ORAI1n.425+33G=
c.219G= (p.Ala73=)
n.417G=
c.30G= (p.Ala10=)
12g.121626967C>ACA386980992ORAI1n.425+34C>A
c.220C>A (p.Leu74Met)
n.418C>A
c.31C>A (p.Leu11Met)
12g.121626967C>GCA386980993ORAI1n.425+34C>G
c.220C>G (p.Leu74Val)
n.418C>G
c.31C>G (p.Leu11Val)
12g.121626968T>ACA386980994ORAI1n.425+35T>A
c.221T>A (p.Leu74Gln)
n.419T>A
c.32T>A (p.Leu11Gln)
12g.121626968T>CCA386980995ORAI1n.425+35T>C
c.221T>C (p.Leu74Pro)
n.419T>C
c.32T>C (p.Leu11Pro)
12g.121626968T>GCA386980996ORAI1n.425+35T>G
c.221T>G (p.Leu74Arg)
n.419T>G
c.32T>G (p.Leu11Arg)
12g.121626969G>ACA2067977499ORAI1n.425+36G>A
c.222G>A (p.Leu74=)
n.420G>A
c.33G>A (p.Leu11=)
dbSNP
12g.121626969G=CA2067977500ORAI1n.425+36G=
c.222G= (p.Leu74=)
n.420G=
c.33G= (p.Leu11=)
12g.121626970T>ACA386980997ORAI1n.425+37T>A
c.223T>A (p.Ser75Thr)
n.421T>A
c.34T>A (p.Ser12Thr)
12g.121626970T>CCA386980998ORAI1n.425+37T>C
c.223T>C (p.Ser75Pro)
n.421T>C
c.34T>C (p.Ser12Pro)
12g.121626970T>GCA386980999ORAI1n.425+37T>G
c.223T>G (p.Ser75Ala)
n.421T>G
c.34T>G (p.Ser12Ala)
12g.121626971C>ACA386981000ORAI1n.425+38C>A
c.224C>A (p.Ser75Tyr)
n.422C>A
c.35C>A (p.Ser12Tyr)
12g.121626971C=CA2067977501ORAI1n.425+38C=
c.224C= (p.Ser75=)
n.422C=
c.35C= (p.Ser12=)
12g.121626971C>GCA386981001ORAI1n.425+38C>G
c.224C>G (p.Ser75Cys)
n.422C>G
c.35C>G (p.Ser12Cys)
dbSNP
12g.121626971C>TCA386981002ORAI1n.425+38C>T
c.224C>T (p.Ser75Phe)
n.422C>T
c.35C>T (p.Ser12Phe)
dbSNP gnomAD v3 gnomAD v4
12g.121626972C=CA2067977504ORAI1n.425+39C=
c.225C= (p.Ser75=)
n.423C=
c.36C= (p.Ser12=)
12g.121626972C>GCA2580085919ORAI1n.425+39C>G
c.225C>G (p.Ser75=)
n.423C>G
c.36C>G (p.Ser12=)
ClinVar
12g.121626972C>TCA2067977505ORAI1n.425+39C>T
c.225C>T (p.Ser75=)
n.423C>T
c.36C>T (p.Ser12=)
dbSNP gnomAD v4
12g.121626973T>ACA244608565ORAI1n.425+40T>A
c.226T>A (p.Trp76Arg)
n.424T>A
c.37T>A (p.Trp13Arg)
dbSNP gnomAD v4
12g.121626973T>CCA386981003ORAI1n.425+40T>C
c.226T>C (p.Trp76Arg)
n.424T>C
c.37T>C (p.Trp13Arg)
gnomAD v4
12g.121626973T>GCA386981004ORAI1n.425+40T>G
c.226T>G (p.Trp76Gly)
n.424T>G
c.37T>G (p.Trp13Gly)
gnomAD v4
12g.121626973T=CA2067977509ORAI1n.425+40T=
c.226T= (p.Trp76=)
n.424T=
c.37T= (p.Trp13=)
12g.121626973_121626974delinsTGCA2067977511ORAI1n.425+40_425+41delinsTG
c.226_227delinsTG (p.Trp76=)
n.424_425delinsTG
c.37_38delinsTG (p.Trp13=)
12g.121626974G>ACA386981005ORAI1n.425+41G>A
c.227G>A (p.Trp76Ter)
n.425G>A
c.38G>A (p.Trp13Ter)
12g.121626974G>CCA386981007ORAI1n.425+41G>C
c.227G>C (p.Trp76Ser)
n.425G>C
c.38G>C (p.Trp13Ser)
gnomAD v4
12g.121626974G>TCA386981006ORAI1n.425+41G>T
c.227G>T (p.Trp76Leu)
n.425G>T
c.38G>T (p.Trp13Leu)
12g.121626975delCA684498734ORAI1n.425+42del
c.228del (p.Trp76CysfsTer6)
n.426del
c.39del (p.Trp13CysfsTer6)
dbSNP
12g.121626975G>ACA386981008ORAI1n.425+42G>A
c.228G>A (p.Trp76Ter)
n.426G>A
c.39G>A (p.Trp13Ter)
12g.121626975G>CCA386981009ORAI1n.425+42G>C
c.228G>C (p.Trp76Cys)
n.426G>C
c.39G>C (p.Trp13Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.121626975G=CA2067977513ORAI1n.425+42G=
c.228G= (p.Trp76=)
n.426G=
c.39G= (p.Trp13=)
12g.121626975G>TCA386981010ORAI1n.425+42G>T
c.228G>T (p.Trp76Cys)
n.426G>T
c.39G>T (p.Trp13Cys)
12g.121626976C>ACA386981011ORAI1n.425+43C>A
c.229C>A (p.Arg77Ser)
n.427C>A
c.40C>A (p.Arg14Ser)
12g.121626976C>GCA386981012ORAI1n.425+43C>G
c.229C>G (p.Arg77Gly)
n.427C>G
c.40C>G (p.Arg14Gly)
12g.121626976C>TCA386981013ORAI1n.425+43C>T
c.229C>T (p.Arg77Cys)
n.427C>T
c.40C>T (p.Arg14Cys)
12g.121626977G>ACA386981014ORAI1n.425+44G>A
c.230G>A (p.Arg77His)
n.428G>A
c.41G>A (p.Arg14His)
gnomAD v4
12g.121626977G>CCA386981015ORAI1n.425+44G>C
c.230G>C (p.Arg77Pro)
n.428G>C
c.41G>C (p.Arg14Pro)
12g.121626977G=CA2067977516ORAI1n.425+44G=
c.230G= (p.Arg77=)
n.428G=
c.41G= (p.Arg14=)
12g.121626977G>TCA244608567ORAI1n.425+44G>T
c.230G>T (p.Arg77Leu)
n.428G>T
c.41G>T (p.Arg14Leu)
dbSNP
12g.121626978C>GCA2552490438ORAI1n.425+45C>G
c.231C>G (p.Arg77=)
n.429C>G
c.42C>G (p.Arg14=)
12g.121626979A>CCA386981017ORAI1n.425+46A>C
c.232A>C (p.Lys78Gln)
n.430A>C
c.43A>C (p.Lys15Gln)
gnomAD v4
12g.121626979A>GCA386981018ORAI1n.425+46A>G
c.232A>G (p.Lys78Glu)
n.430A>G
c.43A>G (p.Lys15Glu)
12g.121626979A>TCA386981016ORAI1n.425+46A>T
c.232A>T (p.Lys78Ter)
n.430A>T
c.43A>T (p.Lys15Ter)
12g.121626980A>CCA386981019ORAI1n.425+47A>C
c.233A>C (p.Lys78Thr)
n.431A>C
c.44A>C (p.Lys15Thr)
gnomAD v4
12g.121626980A>GCA386981020ORAI1n.425+47A>G
c.233A>G (p.Lys78Arg)
n.431A>G
c.44A>G (p.Lys15Arg)
gnomAD v4
12g.121626980A>TCA386981021ORAI1n.425+47A>T
c.233A>T (p.Lys78Met)
n.431A>T
c.44A>T (p.Lys15Met)
12g.121626981G>ACA2575325699ORAI1n.425+48G>A
c.234G>A (p.Lys78=)
n.432G>A
c.45G>A (p.Lys15=)
gnomAD v4
12g.121626981G>CCA386981022ORAI1n.425+48G>C
c.234G>C (p.Lys78Asn)
n.432G>C
c.45G>C (p.Lys15Asn)
dbSNP gnomAD v3 gnomAD v4
12g.121626981G>TCA386981023ORAI1n.425+48G>T
c.234G>T (p.Lys78Asn)
n.432G>T
c.45G>T (p.Lys15Asn)
12g.121626982C>ACA386981024ORAI1n.425+49C>A
c.235C>A (p.Leu79Ile)
n.433C>A
c.46C>A (p.Leu16Ile)
12g.121626982C=CA2067977517ORAI1n.425+49C=
c.235C= (p.Leu79=)
n.433C=
c.46C= (p.Leu16=)
12g.121626982C>GCA386981025ORAI1n.425+49C>G
c.235C>G (p.Leu79Val)
n.433C>G
c.46C>G (p.Leu16Val)
12g.121626982C>TCA386981026ORAI1n.425+49C>T
c.235C>T (p.Leu79Phe)
n.433C>T
c.46C>T (p.Leu16Phe)
dbSNP gnomAD v4
12g.121626984_121626985delCA2575325700ORAI1n.425+51_425+52del
c.237_238del (p.Tyr80LeufsTer7)
n.435_436del
c.48_49del (p.Tyr17LeufsTer7)
12g.121626983T>ACA386981027ORAI1n.425+50T>A
c.236T>A (p.Leu79His)
n.434T>A
c.47T>A (p.Leu16His)
12g.121626983T>CCA386981028ORAI1n.425+50T>C
c.236T>C (p.Leu79Pro)
n.434T>C
c.47T>C (p.Leu16Pro)
12g.121626983T>GCA386981029ORAI1n.425+50T>G
c.236T>G (p.Leu79Arg)
n.434T>G
c.47T>G (p.Leu16Arg)
gnomAD v4
12g.121626984C>GCA2621442511ORAI1n.425+51C>G
c.237C>G (p.Leu79=)
n.435C>G
c.48C>G (p.Leu16=)
gnomAD v4
12g.121626985T>ACA386981031ORAI1n.425+52T>A
c.238T>A (p.Tyr80Asn)
n.436T>A
c.49T>A (p.Tyr17Asn)
12g.121626985T>CCA386981032ORAI1n.425+52T>C
c.238T>C (p.Tyr80His)
n.436T>C
c.49T>C (p.Tyr17His)
12g.121626985T>GCA386981030ORAI1n.425+52T>G
c.238T>G (p.Tyr80Asp)
n.436T>G
c.49T>G (p.Tyr17Asp)
12g.121626986A=CA2067977520ORAI1n.425+53A=
c.239A= (p.Tyr80=)
n.437A=
c.50A= (p.Tyr17=)
12g.121626986A>CCA386981033ORAI1n.425+53A>C
c.239A>C (p.Tyr80Ser)
n.437A>C
c.50A>C (p.Tyr17Ser)
dbSNP gnomAD v3 gnomAD v4
12g.121626986A>GCA244608568ORAI1n.425+53A>G
c.239A>G (p.Tyr80Cys)
n.437A>G
c.50A>G (p.Tyr17Cys)
dbSNP gnomAD v3 gnomAD v4
12g.121626986A>TCA386981034ORAI1n.425+53A>T
c.239A>T (p.Tyr80Phe)
n.437A>T
c.50A>T (p.Tyr17Phe)
12g.121626987C>ACA386981035ORAI1n.425+54C>A
c.240C>A (p.Tyr80Ter)
n.438C>A
c.51C>A (p.Tyr17Ter)
12g.121626987C=CA2067977521ORAI1n.425+54C=
c.240C= (p.Tyr80=)
n.438C=
c.51C= (p.Tyr17=)
12g.121626987C>GCA386981036ORAI1n.425+54C>G
c.240C>G (p.Tyr80Ter)
n.438C>G
c.51C>G (p.Tyr17Ter)
gnomAD v4
12g.121626987C>TCA244608569ORAI1n.425+54C>T
c.240C>T (p.Tyr80=)
n.438C>T
c.51C>T (p.Tyr17=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.121626988T>ACA386981037ORAI1n.425+55T>A
c.241T>A (p.Leu81Met)
n.439T>A
c.52T>A (p.Leu18Met)
dbSNP
12g.121626988T>CCA2527281468ORAI1n.425+55T>C
c.241T>C (p.Leu81=)
n.439T>C
c.52T>C (p.Leu18=)
12g.121626988T>GCA386981038ORAI1n.425+55T>G
c.241T>G (p.Leu81Val)
n.439T>G
c.52T>G (p.Leu18Val)
12g.121626988T=CA2067977523ORAI1n.425+55T=
c.241T= (p.Leu81=)
n.439T=
c.52T= (p.Leu18=)
12g.121626989dupCA919191209ORAI1n.425+56dup
c.242dup (p.Leu81PhefsTer7)
n.440dup
c.53dup (p.Leu18PhefsTer7)
dbSNP gnomAD v4
12g.121626989T>ACA386981039ORAI1n.425+56T>A
c.242T>A (p.Leu81Ter)
n.440T>A
c.53T>A (p.Leu18Ter)
12g.121626989T>CCA386981040ORAI1n.425+56T>C
c.242T>C (p.Leu81Ser)
n.440T>C
c.53T>C (p.Leu18Ser)
12g.121626989T>GCA386981041ORAI1n.425+56T>G
c.242T>G (p.Leu81Trp)
n.440T>G
c.53T>G (p.Leu18Trp)
gnomAD v4
12g.121626990G>ACA244608571ORAI1n.425+57G>A
c.243G>A (p.Leu81=)
n.441G>A
c.54G>A (p.Leu18=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.121626990G>CCA386981042ORAI1n.425+57G>C
c.243G>C (p.Leu81Phe)
n.441G>C
c.54G>C (p.Leu18Phe)
12g.121626990G=CA2067977525ORAI1n.425+57G=
c.243G= (p.Leu81=)
n.441G=
c.54G= (p.Leu18=)
12g.121626990G>TCA386981043ORAI1n.425+57G>T
c.243G>T (p.Leu81Phe)
n.441G>T
c.54G>T (p.Leu18Phe)
12g.121626991A>CCA386981045ORAI1n.425+58A>C
c.244A>C (p.Ser82Arg)
n.442A>C
c.55A>C (p.Ser19Arg)
12g.121626991A>GCA386981046ORAI1n.425+58A>G
c.244A>G (p.Ser82Gly)
n.442A>G
c.55A>G (p.Ser19Gly)
12g.121626991A>TCA386981044ORAI1n.425+58A>T
c.244A>T (p.Ser82Cys)
n.442A>T
c.55A>T (p.Ser19Cys)
12g.121626992G>ACA386981048ORAI1n.425+59G>A
c.245G>A (p.Ser82Asn)
n.443G>A
c.56G>A (p.Ser19Asn)
12g.121626992G>CCA386981047ORAI1n.425+59G>C
c.245G>C (p.Ser82Thr)
n.443G>C
c.56G>C (p.Ser19Thr)
12g.121626992G>TCA386981049ORAI1n.425+59G>T
c.245G>T (p.Ser82Ile)
n.443G>T
c.56G>T (p.Ser19Ile)
12g.121626993C>ACA386981050ORAI1n.425+60C>A
c.246C>A (p.Ser82Arg)
n.444C>A
c.57C>A (p.Ser19Arg)
gnomAD v4
12g.121626993C=CA2067977526ORAI1n.425+60C=
c.246C= (p.Ser82=)
n.444C=
c.57C= (p.Ser19=)
12g.121626993C>GCA386981051ORAI1n.425+60C>G
c.246C>G (p.Ser82Arg)
n.444C>G
c.57C>G (p.Ser19Arg)
12g.121626993C>TCA244608573ORAI1n.425+60C>T
c.246C>T (p.Ser82=)
n.444C>T
c.57C>T (p.Ser19=)
ClinVar dbSNP gnomAD v4
12g.121626994C>ACA386981052ORAI1n.425+61C>A
c.247C>A (p.Arg83Ser)
n.445C>A
c.58C>A (p.Arg20Ser)
12g.121626994C>GCA386981053ORAI1n.425+61C>G
c.247C>G (p.Arg83Gly)
n.445C>G
c.58C>G (p.Arg20Gly)
gnomAD v4
12g.121626994C>TCA386981054ORAI1n.425+61C>T
c.247C>T (p.Arg83Cys)
n.445C>T
c.58C>T (p.Arg20Cys)
ClinVar gnomAD v4
12g.121626995G>ACA386981055ORAI1n.425+62G>A
c.248G>A (p.Arg83His)
n.446G>A
c.59G>A (p.Arg20His)
12g.121626995G>CCA386981056ORAI1n.425+62G>C
c.248G>C (p.Arg83Pro)
n.446G>C
c.59G>C (p.Arg20Pro)
12g.121626995G>TCA386981057ORAI1n.425+62G>T
c.248G>T (p.Arg83Leu)
n.446G>T
c.59G>T (p.Arg20Leu)
12g.121626996C=CA2067977529ORAI1n.425+63C=
c.249C= (p.Arg83=)
n.447C=
c.60C= (p.Arg20=)
12g.121626996C>TCA244608576ORAI1n.425+63C>T
c.249C>T (p.Arg83=)
n.447C>T
c.60C>T (p.Arg20=)
ClinVar dbSNP
12g.121626997G>ACA386981058ORAI1n.425+64G>A
c.250G>A (p.Ala84Thr)
n.448G>A
c.61G>A (p.Ala21Thr)
12g.121626997G>CCA386981059ORAI1n.425+64G>C
c.250G>C (p.Ala84Pro)
n.448G>C
c.61G>C (p.Ala21Pro)
12g.121626997G>TCA386981060ORAI1n.425+64G>T
c.250G>T (p.Ala84Ser)
n.448G>T
c.61G>T (p.Ala21Ser)
12g.121626998C>ACA386981063ORAI1n.425+65C>A
c.251C>A (p.Ala84Asp)
n.449C>A
c.62C>A (p.Ala21Asp)
12g.121626998C>GCA386981061ORAI1n.425+65C>G
c.251C>G (p.Ala84Gly)
n.449C>G
c.62C>G (p.Ala21Gly)
12g.121626998C>TCA386981062ORAI1n.425+65C>T
c.251C>T (p.Ala84Val)
n.449C>T
c.62C>T (p.Ala21Val)
gnomAD v4
12g.121626999C=CA2067977531ORAI1n.425+66C=
c.252C= (p.Ala84=)
n.450C=
c.63C= (p.Ala21=)
12g.121626999C>GCA2067977532ORAI1n.425+66C>G
c.252C>G (p.Ala84=)
n.450C>G
c.63C>G (p.Ala21=)
dbSNP
12g.121627000A=CA2067977534ORAI1n.425+67A=
c.253A= (p.Lys85=)
n.451A=
c.64A= (p.Lys22=)
12g.121627000A>CCA386981064ORAI1n.425+67A>C
c.253A>C (p.Lys85Gln)
n.451A>C
c.64A>C (p.Lys22Gln)
12g.121627000A>GCA386981065ORAI1n.425+67A>G
c.253A>G (p.Lys85Glu)
n.451A>G
c.64A>G (p.Lys22Glu)
dbSNP gnomAD v4
12g.121627000A>TCA386981066ORAI1n.425+67A>T
c.253A>T (p.Lys85Ter)
n.451A>T
c.64A>T (p.Lys22Ter)
12g.121627001A=CA2067977536ORAI1n.425+68A=
c.254A= (p.Lys85=)
n.452A=
c.65A= (p.Lys22=)
12g.121627001A>CCA6837422ORAI1n.425+68A>C
c.254A>C (p.Lys85Thr)
n.452A>C
c.65A>C (p.Lys22Thr)
ExAC gnomAD v2 gnomAD v4
12g.121627001A>GCA386981067ORAI1n.425+68A>G
c.254A>G (p.Lys85Arg)
n.452A>G
c.65A>G (p.Lys22Arg)
12g.121627001A>TCA386981068ORAI1n.425+68A>T
c.254A>T (p.Lys85Met)
n.452A>T
c.65A>T (p.Lys22Met)
12g.121627002G>ACA482433201ORAI1n.425+69G>A
c.255G>A (p.Lys85=)
n.453G>A
c.66G>A (p.Lys22=)
12g.121627002G>CCA386981069ORAI1n.425+69G>C
c.255G>C (p.Lys85Asn)
n.453G>C
c.66G>C (p.Lys22Asn)
ClinVar
12g.121627002G>TCA386981070ORAI1n.425+69G>T
c.255G>T (p.Lys85Asn)
n.453G>T
c.66G>T (p.Lys22Asn)
12g.121627003C>ACA386981071ORAI1n.425+70C>A
c.256C>A (p.Leu86Ile)
n.454C>A
c.67C>A (p.Leu23Ile)
12g.121627003C=CA2067977538ORAI1n.425+70C=
c.256C= (p.Leu86=)
n.454C=
c.67C= (p.Leu23=)
12g.121627003C>GCA386981072ORAI1n.425+70C>G
c.256C>G (p.Leu86Val)
n.454C>G
c.67C>G (p.Leu23Val)
12g.121627003C>TCA386981073ORAI1n.425+70C>T
c.256C>T (p.Leu86Phe)
n.454C>T
c.67C>T (p.Leu23Phe)
dbSNP gnomAD v2 gnomAD v4
12g.121627004T>ACA386981076ORAI1n.425+71T>A
c.257T>A (p.Leu86His)
n.455T>A
c.68T>A (p.Leu23His)
12g.121627004T>CCA386981075ORAI1n.425+71T>C
c.257T>C (p.Leu86Pro)
n.455T>C
c.68T>C (p.Leu23Pro)
12g.121627004T>GCA386981074ORAI1n.425+71T>G
c.257T>G (p.Leu86Arg)
n.455T>G
c.68T>G (p.Leu23Arg)
12g.121627005T>ACA482433205ORAI1n.425+72T>A
c.258T>A (p.Leu86=)
n.456T>A
c.69T>A (p.Leu23=)
12g.121627005T>CCA482433206ORAI1n.425+72T>C
c.258T>C (p.Leu86=)
n.456T>C
c.69T>C (p.Leu23=)
12g.121627005T>GCA482433207ORAI1n.425+72T>G
c.258T>G (p.Leu86=)
n.456T>G
c.69T>G (p.Leu23=)
12g.121627005T=CA2067977541ORAI1n.425+72T=
c.258T= (p.Leu86=)
n.456T=
c.69T= (p.Leu23=)
12g.121627005_121627006dupCA2621442512ORAI1n.425+72_425+73dup
c.258_259dup (p.Lys87IlefsTer?)
n.456_457dup
c.69_70dup (p.Lys24IlefsTer17)
c.69_70dup (p.Lys24IlefsTer?)
gnomAD v4
12g.121627006A=CA2067977545ORAI1n.425+73A=
c.259A= (p.Lys87=)
n.457A=
c.70A= (p.Lys24=)
12g.121627006A>CCA386981077ORAI1n.425+73A>C
c.259A>C (p.Lys87Gln)
n.457A>C
c.70A>C (p.Lys24Gln)
12g.121627006A>GCA386981078ORAI1n.425+73A>G
c.259A>G (p.Lys87Glu)
n.457A>G
c.70A>G (p.Lys24Glu)
ClinVar gnomAD v2 gnomAD v4
12g.121627006A>TCA386981079ORAI1n.425+73A>T
c.259A>T (p.Lys87Ter)
n.457A>T
c.70A>T (p.Lys24Ter)
12g.121627008dupCA10575717ORAI1n.425+75dup
c.261dup (p.Ala88SerfsTer25)
n.459dup
c.72dup (p.Ala25SerfsTer?)
c.72dup (p.Ala25SerfsTer25)
ClinVar dbSNP
12g.121627007A>CCA386981080ORAI1n.425+74A>C
c.260A>C (p.Lys87Thr)
n.458A>C
c.71A>C (p.Lys24Thr)
12g.121627007A>GCA386981081ORAI1n.425+74A>G
c.260A>G (p.Lys87Arg)
n.458A>G
c.71A>G (p.Lys24Arg)
12g.121627007A>TCA386981082ORAI1n.425+74A>T
c.260A>T (p.Lys87Ile)
n.458A>T
c.71A>T (p.Lys24Ile)
12g.121627008A>CCA386981083ORAI1n.425+75A>C
c.261A>C (p.Lys87Asn)
n.459A>C
c.72A>C (p.Lys24Asn)
12g.121627008A>GCA482433211ORAI1n.425+75A>G
c.261A>G (p.Lys87=)
n.459A>G
c.72A>G (p.Lys24=)
12g.121627008A>TCA386981084ORAI1n.425+75A>T
c.261A>T (p.Lys87Asn)
n.459A>T
c.72A>T (p.Lys24Asn)
12g.121627009G>ACA386981085ORAI1n.425+76G>A
c.262G>A (p.Ala88Thr)
n.460G>A
c.73G>A (p.Ala25Thr)
gnomAD v4
12g.121627009G>CCA386981086ORAI1n.425+76G>C
c.262G>C (p.Ala88Pro)
n.460G>C
c.73G>C (p.Ala25Pro)
12g.121627009G>TCA386981087ORAI1n.425+76G>T
c.262G>T (p.Ala88Ser)
n.460G>T
c.73G>T (p.Ala25Ser)
dbSNP
12g.121627010C>ACA386981088ORAI1n.425+77C>A
c.263C>A (p.Ala88Asp)
n.461C>A
c.74C>A (p.Ala25Asp)
12g.121627010C>GCA386981089ORAI1n.425+77C>G
c.263C>G (p.Ala88Gly)
n.461C>G
c.74C>G (p.Ala25Gly)
12g.121627010C>TCA386981090ORAI1n.425+77C>T
c.263C>T (p.Ala88Val)
n.461C>T
c.74C>T (p.Ala25Val)
12g.121627011C>ACA482433212ORAI1n.425+78C>A
c.264C>A (p.Ala88=)
n.462C>A
c.75C>A (p.Ala25=)
12g.121627011C=CA2067977548ORAI1n.425+78C=
c.264C= (p.Ala88=)
n.462C=
c.75C= (p.Ala25=)
12g.121627011C>GCA6837424ORAI1n.425+78C>G
c.264C>G (p.Ala88=)
n.462C>G
c.75C>G (p.Ala25=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627011C>TCA6837423ORAI1n.425+78C>T
c.264C>T (p.Ala88=)
n.462C>T
c.75C>T (p.Ala25=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627012T>ACA386981091ORAI1n.425+79T>A
c.265T>A (p.Ser89Thr)
n.463T>A
c.76T>A (p.Ser26Thr)
12g.121627012T>CCA386981092ORAI1n.425+79T>C
c.265T>C (p.Ser89Pro)
n.463T>C
c.76T>C (p.Ser26Pro)
12g.121627012T>GCA6837425ORAI1n.425+79T>G
c.265T>G (p.Ser89Ala)
n.463T>G
c.76T>G (p.Ser26Ala)
ClinVar ExAC gnomAD v2 gnomAD v4
12g.121627012T=CA2067977552ORAI1n.425+79T=
c.265T= (p.Ser89=)
n.463T=
c.76T= (p.Ser26=)
12g.121627013C>ACA386981093ORAI1n.425+80C>A
c.266C>A (p.Ser89Tyr)
n.464C>A
c.77C>A (p.Ser26Tyr)
12g.121627013C=CA2067977555ORAI1n.425+80C=
c.266C= (p.Ser89=)
n.464C=
c.77C= (p.Ser26=)
12g.121627013C>GCA386981094ORAI1n.425+80C>G
c.266C>G (p.Ser89Cys)
n.464C>G
c.77C>G (p.Ser26Cys)
ClinVar dbSNP gnomAD v4
12g.121627013C>TCA386981095ORAI1n.425+80C>T
c.266C>T (p.Ser89Phe)
n.464C>T
c.77C>T (p.Ser26Phe)
12g.121627014C>ACA482433216ORAI1n.425+81C>A
c.267C>A (p.Ser89=)
n.465C>A
c.78C>A (p.Ser26=)
12g.121627014C>GCA482433217ORAI1n.425+81C>G
c.267C>G (p.Ser89=)
n.465C>G
c.78C>G (p.Ser26=)
12g.121627014C>TCA482433218ORAI1n.425+81C>T
c.267C>T (p.Ser89=)
n.465C>T
c.78C>T (p.Ser26=)
gnomAD v4
12g.121627015A>CCA386981096ORAI1n.425+82A>C
c.268A>C (p.Ser90Arg)
n.466A>C
c.79A>C (p.Ser27Arg)
12g.121627015A>GCA386981098ORAI1n.425+82A>G
c.268A>G (p.Ser90Gly)
n.466A>G
c.79A>G (p.Ser27Gly)
12g.121627015A>TCA386981101ORAI1n.425+82A>T
c.268A>T (p.Ser90Cys)
n.466A>T
c.79A>T (p.Ser27Cys)
12g.121627016G>ACA386981105ORAI1n.425+83G>A
c.269G>A (p.Ser90Asn)
n.467G>A
c.80G>A (p.Ser27Asn)
12g.121627016G>CCA386981113ORAI1n.425+83G>C
c.269G>C (p.Ser90Thr)
n.467G>C
c.80G>C (p.Ser27Thr)
12g.121627016G>TCA386981114ORAI1n.425+83G>T
c.269G>T (p.Ser90Ile)
n.467G>T
c.80G>T (p.Ser27Ile)
12g.121627017C>ACA386981118ORAI1n.425+84C>A
c.270C>A (p.Ser90Arg)
n.468C>A
c.81C>A (p.Ser27Arg)
12g.121627017C=CA2067977558ORAI1n.425+84C=
c.270C= (p.Ser90=)
n.468C=
c.81C= (p.Ser27=)
12g.121627017C>GCA386981116ORAI1n.425+84C>G
c.270C>G (p.Ser90Arg)
n.468C>G
c.81C>G (p.Ser27Arg)
12g.121627017C>TCA482433220ORAI1n.425+84C>T
c.270C>T (p.Ser90=)
n.468C>T
c.81C>T (p.Ser27=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.121627018C>ACA482433221ORAI1n.425+85C>A
c.271C>A (p.Arg91=)
n.469C>A
c.82C>A (p.Arg28=)
ClinVar gnomAD v4
12g.121627018C=CA2067977562ORAI1n.425+85C=
c.271C= (p.Arg91=)
n.469C=
c.82C= (p.Arg28=)
12g.121627018C>GCA386981120ORAI1n.425+85C>G
c.271C>G (p.Arg91Gly)
n.469C>G
c.82C>G (p.Arg28Gly)
12g.121627018C>TCA114898ORAI1n.425+85C>T
c.271C>T (p.Arg91Trp)
n.469C>T
c.82C>T (p.Arg28Trp)
ClinVar dbSNP
12g.121627019G>ACA386981123ORAI1n.425+86G>A
c.272G>A (p.Arg91Gln)
n.470G>A
c.83G>A (p.Arg28Gln)
dbSNP
12g.121627019G>CCA386981125ORAI1n.425+86G>C
c.272G>C (p.Arg91Pro)
n.470G>C
c.83G>C (p.Arg28Pro)
12g.121627019G>TCA386981127ORAI1n.425+86G>T
c.272G>T (p.Arg91Leu)
n.470G>T
c.83G>T (p.Arg28Leu)
12g.121627020G>ACA6837426ORAI1n.425+87G>A
c.273G>A (p.Arg91=)
n.471G>A
c.84G>A (p.Arg28=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627020G>CCA482433225ORAI1n.425+87G>C
c.273G>C (p.Arg91=)
n.471G>C
c.84G>C (p.Arg28=)
dbSNP gnomAD v3 gnomAD v4
12g.121627020G=CA2067977566ORAI1n.425+87G=
c.273G= (p.Arg91=)
n.471G=
c.84G= (p.Arg28=)
12g.121627020G>TCA482433226ORAI1n.425+87G>T
c.273G>T (p.Arg91=)
n.471G>T
c.84G>T (p.Arg28=)
12g.121627021A>CCA386981134ORAI1n.425+88A>C
c.274A>C (p.Thr92Pro)
n.472A>C
c.85A>C (p.Thr29Pro)
12g.121627021A>GCA386981132ORAI1n.425+88A>G
c.274A>G (p.Thr92Ala)
n.472A>G
c.85A>G (p.Thr29Ala)
12g.121627021A>TCA386981130ORAI1n.425+88A>T
c.274A>T (p.Thr92Ser)
n.472A>T
c.85A>T (p.Thr29Ser)
12g.121627022C>ACA386981136ORAI1n.425+89C>A
c.275C>A (p.Thr92Asn)
n.473C>A
c.86C>A (p.Thr29Asn)
12g.121627022C>GCA386981138ORAI1n.425+89C>G
c.275C>G (p.Thr92Ser)
n.473C>G
c.86C>G (p.Thr29Ser)
gnomAD v4
12g.121627022C>TCA386981139ORAI1n.425+89C>T
c.275C>T (p.Thr92Ile)
n.473C>T
c.86C>T (p.Thr29Ile)
ClinVar gnomAD v4
12g.121627023C>ACA482433227ORAI1n.425+90C>A
c.276C>A (p.Thr92=)
n.474C>A
c.87C>A (p.Thr29=)
12g.121627023C=CA2067977569ORAI1n.425+90C=
c.276C= (p.Thr92=)
n.474C=
c.87C= (p.Thr29=)
12g.121627023C>GCA6837427ORAI1n.425+90C>G
c.276C>G (p.Thr92=)
n.474C>G
c.87C>G (p.Thr29=)
ExAC gnomAD v2 gnomAD v4
12g.121627023C>TCA482433228ORAI1n.425+90C>T
c.276C>T (p.Thr92=)
n.474C>T
c.87C>T (p.Thr29=)
gnomAD v2 gnomAD v4
12g.121627024T>ACA386981142ORAI1n.425+91T>A
c.277T>A (p.Ser93Thr)
n.475T>A
c.88T>A (p.Ser30Thr)
12g.121627024T>CCA386981144ORAI1n.425+91T>C
c.277T>C (p.Ser93Pro)
n.475T>C
c.88T>C (p.Ser30Pro)
12g.121627024T>GCA386981146ORAI1n.425+91T>G
c.277T>G (p.Ser93Ala)
n.475T>G
c.88T>G (p.Ser30Ala)
12g.121627025C>ACA386981147ORAI1n.425+92C>A
c.278C>A (p.Ser93Ter)
n.476C>A
c.89C>A (p.Ser30Ter)
12g.121627025C>GCA386981150ORAI1n.425+92C>G
c.278C>G (p.Ser93Trp)
n.476C>G
c.89C>G (p.Ser30Trp)
12g.121627025C>TCA386981149ORAI1n.425+92C>T
c.278C>T (p.Ser93Leu)
n.476C>T
c.89C>T (p.Ser30Leu)
gnomAD v4
12g.121627026G>ACA482433232ORAI1n.425+93G>A
c.279G>A (p.Ser93=)
n.477G>A
c.90G>A (p.Ser30=)
12g.121627026G>CCA6837428ORAI1n.425+93G>C
c.279G>C (p.Ser93=)
n.477G>C
c.90G>C (p.Ser30=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627026G=CA2067977576ORAI1n.425+93G=
c.279G= (p.Ser93=)
n.477G=
c.90G= (p.Ser30=)
12g.121627026G>TCA482433233ORAI1n.425+93G>T
c.279G>T (p.Ser93=)
n.477G>T
c.90G>T (p.Ser30=)
12g.121627027G>ACA386981153ORAI1n.425+94G>A
c.280G>A (p.Ala94Thr)
n.478G>A
c.91G>A (p.Ala31Thr)
gnomAD v4
12g.121627027G>CCA386981154ORAI1n.425+94G>C
c.280G>C (p.Ala94Pro)
n.478G>C
c.91G>C (p.Ala31Pro)
12g.121627027G>TCA386981156ORAI1n.425+94G>T
c.280G>T (p.Ala94Ser)
n.478G>T
c.91G>T (p.Ala31Ser)
12g.121627028C>ACA386981158ORAI1n.425+95C>A
c.281C>A (p.Ala94Asp)
n.479C>A
c.92C>A (p.Ala31Asp)
12g.121627028C>GCA386981160ORAI1n.425+95C>G
c.281C>G (p.Ala94Gly)
n.479C>G
c.92C>G (p.Ala31Gly)
12g.121627028C>TCA386981162ORAI1n.425+95C>T
c.281C>T (p.Ala94Val)
n.479C>T
c.92C>T (p.Ala31Val)
12g.121627029T>ACA482433236ORAI1n.425+96T>A
c.282T>A (p.Ala94=)
n.480T>A
c.93T>A (p.Ala31=)
12g.121627029T>CCA482433237ORAI1n.425+96T>C
c.282T>C (p.Ala94=)
n.480T>C
c.93T>C (p.Ala31=)
ClinVar dbSNP gnomAD v4
12g.121627029T>GCA482433238ORAI1n.425+96T>G
c.282T>G (p.Ala94=)
n.480T>G
c.93T>G (p.Ala31=)
12g.121627029T=CA2067977580ORAI1n.425+96T=
c.282T= (p.Ala94=)
n.480T=
c.93T= (p.Ala31=)
12g.121627030C>ACA386981167ORAI1n.425+97C>A
c.283C>A (p.Leu95Met)
n.481C>A
c.94C>A (p.Leu32Met)
12g.121627030C=CA2067977582ORAI1n.425+97C=
c.283C= (p.Leu95=)
n.481C=
c.94C= (p.Leu32=)
12g.121627030C>GCA386981169ORAI1n.425+97C>G
c.283C>G (p.Leu95Val)
n.481C>G
c.94C>G (p.Leu32Val)
gnomAD v4
12g.121627030C>TCA482433241ORAI1n.425+97C>T
c.283C>T (p.Leu95=)
n.481C>T
c.94C>T (p.Leu32=)
dbSNP gnomAD v4
12g.121627031T>ACA386981170ORAI1n.425+98T>A
c.284T>A (p.Leu95Gln)
n.482T>A
c.95T>A (p.Leu32Gln)
12g.121627031T>CCA386981172ORAI1n.425+98T>C
c.284T>C (p.Leu95Pro)
n.482T>C
c.95T>C (p.Leu32Pro)
dbSNP gnomAD v3 gnomAD v4
12g.121627031T>GCA386981175ORAI1n.425+98T>G
c.284T>G (p.Leu95Arg)
n.482T>G
c.95T>G (p.Leu32Arg)
12g.121627032G>ACA482433244ORAI1n.425+99G>A
c.285G>A (p.Leu95=)
n.483G>A
c.96G>A (p.Leu32=)
gnomAD v4
12g.121627032G>CCA482433245ORAI1n.425+99G>C
c.285G>C (p.Leu95=)
n.483G>C
c.96G>C (p.Leu32=)
12g.121627032G>TCA482433243ORAI1n.425+99G>T
c.285G>T (p.Leu95=)
n.483G>T
c.96G>T (p.Leu32=)
12g.121627033C>ACA386981178ORAI1n.425+100C>A
c.286C>A (p.Leu96Ile)
n.484C>A
c.97C>A (p.Leu33Ile)
dbSNP
12g.121627033C=CA2067977584ORAI1n.425+100C=
c.286C= (p.Leu96=)
n.484C=
c.97C= (p.Leu33=)
12g.121627033C>GCA386981183ORAI1n.425+100C>G
c.286C>G (p.Leu96Val)
n.484C>G
c.97C>G (p.Leu33Val)
12g.121627033C>TCA386981180ORAI1n.425+100C>T
c.286C>T (p.Leu96Phe)
n.484C>T
c.97C>T (p.Leu33Phe)
gnomAD v4
12g.121627034T>ACA386981185ORAI1n.425+101T>A
c.287T>A (p.Leu96His)
n.485T>A
c.98T>A (p.Leu33His)
12g.121627034T>CCA386981187ORAI1n.425+101T>C
c.287T>C (p.Leu96Pro)
n.485T>C
c.98T>C (p.Leu33Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.121627034T>GCA386981190ORAI1n.425+101T>G
c.287T>G (p.Leu96Arg)
n.485T>G
c.98T>G (p.Leu33Arg)
12g.121627034T=CA2067977586ORAI1n.425+101T=
c.287T= (p.Leu96=)
n.485T=
c.98T= (p.Leu33=)
12g.121627035C>ACA482433248ORAI1n.425+102C>A
c.288C>A (p.Leu96=)
n.486C>A
c.99C>A (p.Leu33=)
12g.121627035C=CA2067977588ORAI1n.425+102C=
c.288C= (p.Leu96=)
n.486C=
c.99C= (p.Leu33=)
12g.121627035C>GCA6837429ORAI1n.425+102C>G
c.288C>G (p.Leu96=)
n.486C>G
c.99C>G (p.Leu33=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627035C>TCA6837430ORAI1n.425+102C>T
c.288C>T (p.Leu96=)
n.486C>T
c.99C>T (p.Leu33=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627036T>ACA386981197ORAI1n.425+103T>A
c.289T>A (p.Ser97Thr)
n.487T>A
c.100T>A (p.Ser34Thr)
dbSNP
12g.121627036T>CCA386981199ORAI1n.425+103T>C
c.289T>C (p.Ser97Pro)
n.487T>C
c.100T>C (p.Ser34Pro)
dbSNP gnomAD v2 gnomAD v4
12g.121627036T>GCA386981203ORAI1n.425+103T>G
c.289T>G (p.Ser97Ala)
n.487T>G
c.100T>G (p.Ser34Ala)
12g.121627036T=CA2067977590ORAI1n.425+103T=
c.289T= (p.Ser97=)
n.487T=
c.100T= (p.Ser34=)
12g.121627037C>ACA386981207ORAI1n.425+104C>A
c.290C>A (p.Ser97Tyr)
n.488C>A
c.101C>A (p.Ser34Tyr)
dbSNP
12g.121627037C=CA2067977593ORAI1n.425+104C=
c.290C= (p.Ser97=)
n.488C=
c.101C= (p.Ser34=)
12g.121627037C>GCA386981209ORAI1n.425+104C>G
c.290C>G (p.Ser97Cys)
n.488C>G
c.101C>G (p.Ser34Cys)
ClinVar dbSNP
12g.121627037C>TCA386981210ORAI1n.425+104C>T
c.290C>T (p.Ser97Phe)
n.488C>T
c.101C>T (p.Ser34Phe)
12g.121627038C>ACA6837432ORAI1n.425+105C>A
c.291C>A (p.Ser97=)
n.489C>A
c.102C>A (p.Ser34=)
ExAC gnomAD v2 gnomAD v4
12g.121627038C=CA2067977598ORAI1n.425+105C=
c.291C= (p.Ser97=)
n.489C=
c.102C= (p.Ser34=)
12g.121627038C>GCA482433252ORAI1n.425+105C>G
c.291C>G (p.Ser97=)
n.489C>G
c.102C>G (p.Ser34=)
12g.121627038C>TCA6837431ORAI1n.425+105C>T
c.291C>T (p.Ser97=)
n.489C>T
c.102C>T (p.Ser34=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627039G>ACA199185ORAI1n.425+106G>A
c.292G>A (p.Gly98Ser)
n.490G>A
c.103G>A (p.Gly35Ser)
ClinVar dbSNP
12g.121627039G>CCA386981217ORAI1n.425+106G>C
c.292G>C (p.Gly98Arg)
n.490G>C
c.103G>C (p.Gly35Arg)
gnomAD v2 gnomAD v4
12g.121627039G=CA2067977604ORAI1n.425+106G=
c.292G= (p.Gly98=)
n.490G=
c.103G= (p.Gly35=)
12g.121627039G>TCA386981220ORAI1n.425+106G>T
c.292G>T (p.Gly98Cys)
n.490G>T
c.103G>T (p.Gly35Cys)
12g.121627040G>ACA386981225ORAI1n.425+107G>A
c.293G>A (p.Gly98Asp)
n.491G>A
c.104G>A (p.Gly35Asp)
dbSNP gnomAD v3 gnomAD v4
12g.121627040G>CCA386981227ORAI1n.425+107G>C
c.293G>C (p.Gly98Ala)
n.491G>C
c.104G>C (p.Gly35Ala)
12g.121627040G=CA2067977609ORAI1n.425+107G=
c.293G= (p.Gly98=)
n.491G=
c.104G= (p.Gly35=)
12g.121627040G>TCA386981229ORAI1n.425+107G>T
c.293G>T (p.Gly98Val)
n.491G>T
c.104G>T (p.Gly35Val)
gnomAD v4
12g.121627041C>ACA482433254ORAI1n.425+108C>A
c.294C>A (p.Gly98=)
n.492C>A
c.105C>A (p.Gly35=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.121627041C=CA2067977612ORAI1n.425+108C=
c.294C= (p.Gly98=)
n.492C=
c.105C= (p.Gly35=)
12g.121627041C>GCA482433255ORAI1n.425+108C>G
c.294C>G (p.Gly98=)
n.492C>G
c.105C>G (p.Gly35=)
12g.121627041C>TCA482433256ORAI1n.425+108C>T
c.294C>T (p.Gly98=)
n.492C>T
c.105C>T (p.Gly35=)
ClinVar gnomAD v4
12g.121627042T>ACA386981233ORAI1n.425+109T>A
c.295T>A (p.Phe99Ile)
n.493T>A
c.106T>A (p.Phe36Ile)
12g.121627042T>CCA386981236ORAI1n.425+109T>C
c.295T>C (p.Phe99Leu)
n.493T>C
c.106T>C (p.Phe36Leu)
12g.121627042T>GCA386981238ORAI1n.425+109T>G
c.295T>G (p.Phe99Val)
n.493T>G
c.106T>G (p.Phe36Val)
12g.121627043T>ACA386981240ORAI1n.425+110T>A
c.296T>A (p.Phe99Tyr)
n.494T>A
c.107T>A (p.Phe36Tyr)
12g.121627043T>CCA386981243ORAI1n.425+110T>C
c.296T>C (p.Phe99Ser)
n.494T>C
c.107T>C (p.Phe36Ser)
12g.121627043T>GCA386981245ORAI1n.425+110T>G
c.296T>G (p.Phe99Cys)
n.494T>G
c.107T>G (p.Phe36Cys)
12g.121627044C>ACA386981247ORAI1n.425+111C>A
c.297C>A (p.Phe99Leu)
n.495C>A
c.108C>A (p.Phe36Leu)
12g.121627044C>GCA386981250ORAI1n.425+111C>G
c.297C>G (p.Phe99Leu)
n.495C>G
c.108C>G (p.Phe36Leu)
12g.121627044C>TCA482433260ORAI1n.425+111C>T
c.297C>T (p.Phe99=)
n.495C>T
c.108C>T (p.Phe36=)
dbSNP gnomAD v4
12g.121627045G>ACA386981259ORAI1n.425+112G>A
c.298G>A (p.Ala100Thr)
n.496G>A
c.109G>A (p.Ala37Thr)
gnomAD v4
12g.121627045G>CCA386981256ORAI1n.425+112G>C
c.298G>C (p.Ala100Pro)
n.496G>C
c.109G>C (p.Ala37Pro)
12g.121627045G>TCA386981253ORAI1n.425+112G>T
c.298G>T (p.Ala100Ser)
n.496G>T
c.109G>T (p.Ala37Ser)
12g.121627046C>ACA386981262ORAI1n.425+113C>A
c.299C>A (p.Ala100Asp)
n.497C>A
c.110C>A (p.Ala37Asp)
12g.121627046C=CA2067977615ORAI1n.425+113C=
c.299C= (p.Ala100=)
n.497C=
c.110C= (p.Ala37=)
12g.121627046C>GCA386981264ORAI1n.425+113C>G
c.299C>G (p.Ala100Gly)
n.497C>G
c.110C>G (p.Ala37Gly)
12g.121627046C>TCA386981268ORAI1n.425+113C>T
c.299C>T (p.Ala100Val)
n.497C>T
c.110C>T (p.Ala37Val)
dbSNP gnomAD v4
12g.121627047C>ACA482433262ORAI1n.425+114C>A
c.300C>A (p.Ala100=)
n.498C>A
c.111C>A (p.Ala37=)
12g.121627047C=CA2067977619ORAI1n.425+114C=
c.300C= (p.Ala100=)
n.498C=
c.111C= (p.Ala37=)
12g.121627047C>GCA482433264ORAI1n.425+114C>G
c.300C>G (p.Ala100=)
n.498C>G
c.111C>G (p.Ala37=)
dbSNP gnomAD v2 gnomAD v4
12g.121627047C>TCA482433265ORAI1n.425+114C>T
c.300C>T (p.Ala100=)
n.498C>T
c.111C>T (p.Ala37=)
dbSNP
12g.121627048A>CCA386981271ORAI1n.425+115A>C
c.301A>C (p.Met101Leu)
n.499A>C
c.112A>C (p.Met38Leu)
12g.121627048A>GCA386981272ORAI1n.425+115A>G
c.301A>G (p.Met101Val)
n.499A>G
c.112A>G (p.Met38Val)
gnomAD v4
12g.121627048A>TCA386981274ORAI1n.425+115A>T
c.301A>T (p.Met101Leu)
n.499A>T
c.112A>T (p.Met38Leu)
12g.121627049T>ACA386981283ORAI1n.425+116T>A
c.302T>A (p.Met101Lys)
n.500T>A
c.113T>A (p.Met38Lys)
12g.121627049T>CCA386981281ORAI1n.425+116T>C
c.302T>C (p.Met101Thr)
n.500T>C
c.113T>C (p.Met38Thr)
12g.121627049T>GCA386981278ORAI1n.425+116T>G
c.302T>G (p.Met101Arg)
n.500T>G
c.113T>G (p.Met38Arg)
gnomAD v4
12g.121627050G>ACA386981286ORAI1n.425+117G>A
c.303G>A (p.Met101Ile)
n.501G>A
c.114G>A (p.Met38Ile)
gnomAD v4
12g.121627050G>CCA386981288ORAI1n.425+117G>C
c.303G>C (p.Met101Ile)
n.501G>C
c.114G>C (p.Met38Ile)
12g.121627050G>TCA386981291ORAI1n.425+117G>T
c.303G>T (p.Met101Ile)
n.501G>T
c.114G>T (p.Met38Ile)
12g.121627051G>ACA386981294ORAI1n.425+118G>A
c.303+1G>A (n.303+1G>A)
n.501+1G>A
c.115G>A (p.Val39Met)
c.114+1G>A (n.114+1G>A)
12g.121627051G>CCA386981297ORAI1n.425+118G>C
c.303+1G>C (n.303+1G>C)
n.501+1G>C
c.115G>C (p.Val39Leu)
c.114+1G>C (n.114+1G>C)
12g.121627051G=CA2067977622ORAI1n.425+118G=
c.303+1G= (n.303+1G=)
n.501+1G=
c.115G= (p.Val39=)
c.114+1G= (n.114+1G=)
12g.121627051G>TCA386981298ORAI1n.425+118G>T
c.303+1G>T (n.303+1G>T)
n.501+1G>T
c.115G>T (p.Val39Leu)
c.114+1G>T (n.114+1G>T)
gnomAD v2 gnomAD v4
12g.121627052T>ACA386981303ORAI1n.425+119T>A
c.303+2T>A (n.303+2T>A)
n.501+2T>A
c.116T>A (p.Val39Glu)
c.114+2T>A (n.114+2T>A)
12g.121627052T>CCA386981300ORAI1n.425+119T>C
c.303+2T>C (n.303+2T>C)
n.501+2T>C
c.116T>C (p.Val39Ala)
c.114+2T>C (n.114+2T>C)
ClinVar dbSNP
12g.121627052T>GCA386981301ORAI1n.425+119T>G
c.303+2T>G (n.303+2T>G)
n.501+2T>G
c.116T>G (p.Val39Gly)
c.114+2T>G (n.114+2T>G)
12g.121627052T=CA2067977628ORAI1n.425+119T=
c.303+2T= (n.303+2T=)
n.501+2T=
c.116T= (p.Val39=)
c.114+2T= (n.114+2T=)
12g.121627053G>ACA2621442513ORAI1n.425+120G>A
c.303+3G>A (n.303+3G>A)
n.501+3G>A
c.117G>A (p.Val39=)
c.114+3G>A (n.114+3G>A)
gnomAD v4
12g.121627054A=CA2067977631ORAI1n.425+121A=
c.303+4A= (n.303+4A=)
n.501+4A=
c.118A= (p.Ser40=)
c.114+4A= (n.114+4A=)
12g.121627054A>CCA386981305ORAI1n.425+121A>C
c.303+4A>C (n.303+4A>C)
n.501+4A>C
c.118A>C (p.Ser40Arg)
c.114+4A>C (n.114+4A>C)
12g.121627054A>GCA386981307ORAI1n.425+121A>G
c.303+4A>G (n.303+4A>G)
n.501+4A>G
c.118A>G (p.Ser40Gly)
c.114+4A>G (n.114+4A>G)
gnomAD v4
12g.121627054A>TCA386981308ORAI1n.425+121A>T
c.303+4A>T (n.303+4A>T)
n.501+4A>T
c.118A>T (p.Ser40Cys)
c.114+4A>T (n.114+4A>T)
dbSNP
12g.121627055G>ACA386981311ORAI1n.425+122G>A
c.303+5G>A (n.303+5G>A)
n.501+5G>A
c.119G>A (p.Ser40Asn)
c.114+5G>A (n.114+5G>A)
dbSNP gnomAD v3 gnomAD v4
12g.121627055G>CCA386981313ORAI1n.425+122G>C
c.303+5G>C (n.303+5G>C)
n.501+5G>C
c.119G>C (p.Ser40Thr)
c.114+5G>C (n.114+5G>C)
12g.121627055G=CA2067977633ORAI1n.425+122G=
c.303+5G= (n.303+5G=)
n.501+5G=
c.119G= (p.Ser40=)
c.114+5G= (n.114+5G=)
12g.121627055G>TCA386981316ORAI1n.425+122G>T
c.303+5G>T (n.303+5G>T)
n.501+5G>T
c.119G>T (p.Ser40Ile)
c.114+5G>T (n.114+5G>T)
12g.121627056C>ACA386981322ORAI1n.425+123C>A
c.303+6C>A (n.303+6C>A)
n.501+6C>A
c.120C>A (p.Ser40Arg)
c.114+6C>A (n.114+6C>A)
12g.121627056C=CA2067977636ORAI1n.425+123C=
c.303+6C= (n.303+6C=)
n.501+6C=
c.120C= (p.Ser40=)
c.114+6C= (n.114+6C=)
12g.121627056C>GCA386981320ORAI1n.425+123C>G
c.303+6C>G (n.303+6C>G)
n.501+6C>G
c.120C>G (p.Ser40Arg)
c.114+6C>G (n.114+6C>G)
12g.121627056C>TCA608061184ORAI1n.425+123C>T
c.303+6C>T (n.303+6C>T)
n.501+6C>T
c.120C>T (p.Ser40=)
c.114+6C>T (n.114+6C>T)
dbSNP gnomAD v2 gnomAD v4
12g.121627057T>ACA386981325ORAI1n.425+124T>A
c.303+7T>A (n.303+7T>A)
n.501+7T>A
c.121T>A (p.Ser41Thr)
c.114+7T>A (n.114+7T>A)
12g.121627057T>CCA386981326ORAI1n.425+124T>C
c.303+7T>C (n.303+7T>C)
n.501+7T>C
c.121T>C (p.Ser41Pro)
c.114+7T>C (n.114+7T>C)
12g.121627057T>GCA386981331ORAI1n.425+124T>G
c.303+7T>G (n.303+7T>G)
n.501+7T>G
c.121T>G (p.Ser41Ala)
c.114+7T>G (n.114+7T>G)
dbSNP
12g.121627057T=CA2067977639ORAI1n.425+124T=
c.303+7T= (n.303+7T=)
n.501+7T=
c.121T= (p.Ser41=)
c.114+7T= (n.114+7T=)
12g.121627058C>ACA386981335ORAI1n.425+125C>A
c.303+8C>A (n.303+8C>A)
n.501+8C>A
c.122C>A (p.Ser41Tyr)
c.114+8C>A (n.114+8C>A)
12g.121627058C=CA2067977640ORAI1n.425+125C=
c.303+8C= (n.303+8C=)
n.501+8C=
c.122C= (p.Ser41=)
c.114+8C= (n.114+8C=)
12g.121627058C>GCA386981338ORAI1n.425+125C>G
c.303+8C>G (n.303+8C>G)
n.501+8C>G
c.122C>G (p.Ser41Cys)
c.114+8C>G (n.114+8C>G)
gnomAD v4
12g.121627058C>TCA6837433ORAI1n.425+125C>T
c.303+8C>T (n.303+8C>T)
n.501+8C>T
c.122C>T (p.Ser41Phe)
c.114+8C>T (n.114+8C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627059delCA2575325701ORAI1n.425+126del
c.303+9del (n.303+9del)
n.501+9del
c.123del (p.Gly42AlafsTer?)
c.114+9del (n.114+9del)
12g.121627059C>ACA2621442514ORAI1n.425+126C>A
c.303+9C>A (n.303+9C>A)
n.501+9C>A
c.123C>A (p.Ser41=)
c.114+9C>A (n.114+9C>A)
gnomAD v4
12g.121627059C=CA2067977642ORAI1n.425+126C=
c.303+9C= (n.303+9C=)
n.501+9C=
c.123C= (p.Ser41=)
c.114+9C= (n.114+9C=)
12g.121627059C>GCA2575325702ORAI1n.425+126C>G
c.303+9C>G (n.303+9C>G)
n.501+9C>G
c.123C>G (p.Ser41=)
c.114+9C>G (n.114+9C>G)
12g.121627059C>TCA608061185ORAI1n.425+126C>T
c.303+9C>T (n.303+9C>T)
n.501+9C>T
c.123C>T (p.Ser41=)
c.114+9C>T (n.114+9C>T)
gnomAD v2 gnomAD v4
12g.121627060G>ACA386981342ORAI1n.425+127G>A
c.303+10G>A (n.303+10G>A)
n.501+10G>A
c.124G>A (p.Gly42Ser)
c.114+10G>A (n.114+10G>A)
dbSNP gnomAD v4
12g.121627060G>CCA386981348ORAI1n.425+127G>C
c.303+10G>C (n.303+10G>C)
n.501+10G>C
c.124G>C (p.Gly42Arg)
c.114+10G>C (n.114+10G>C)
gnomAD v4
12g.121627060G=CA2067977644ORAI1n.425+127G=
c.303+10G= (n.303+10G=)
n.501+10G=
c.124G= (p.Gly42=)
c.114+10G= (n.114+10G=)
12g.121627060G>TCA386981346ORAI1n.425+127G>T
c.303+10G>T (n.303+10G>T)
n.501+10G>T
c.124G>T (p.Gly42Cys)
c.114+10G>T (n.114+10G>T)
gnomAD v4
12g.121627061G>ACA6837434ORAI1n.425+128G>A
c.303+11G>A (n.303+11G>A)
n.501+11G>A
c.125G>A (p.Gly42Asp)
c.114+11G>A (n.114+11G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.121627061G>CCA386981352ORAI1n.425+128G>C
c.303+11G>C (n.303+11G>C)
n.501+11G>C
c.125G>C (p.Gly42Ala)
c.114+11G>C (n.114+11G>C)
12g.121627061G=CA2067977647ORAI1n.425+128G=
c.303+11G= (n.303+11G=)
n.501+11G=
c.125G= (p.Gly42=)
c.114+11G= (n.114+11G=)
12g.121627061G>TCA386981354ORAI1n.425+128G>T
c.303+11G>T (n.303+11G>T)
n.501+11G>T
c.125G>T (p.Gly42Val)
c.114+11G>T (n.114+11G>T)
12g.121627062C>ACA2621442515ORAI1n.425+129C>A
c.303+12C>A (n.303+12C>A)
n.501+12C>A
c.126C>A (p.Gly42=)
c.114+12C>A (n.114+12C>A)
gnomAD v4
12g.121627062C>TCA2621442516ORAI1n.425+129C>T
c.303+12C>T (n.303+12C>T)
n.501+12C>T
c.126C>T (p.Gly42=)
c.114+12C>T (n.114+12C>T)
gnomAD v4
12g.121627063C>ACA386981358ORAI1n.425+130C>A
c.303+13C>A (n.303+13C>A)
n.501+13C>A
c.127C>A (p.Arg43Ser)
c.114+13C>A (n.114+13C>A)
gnomAD v4
12g.121627063C=CA2067977651ORAI1n.425+130C=
c.303+13C= (n.303+13C=)
n.501+13C=
c.127C= (p.Arg43=)
c.114+13C= (n.114+13C=)
12g.121627063C>GCA386981360ORAI1n.425+130C>G
c.303+13C>G (n.303+13C>G)
n.501+13C>G
c.127C>G (p.Arg43Gly)
c.114+13C>G (n.114+13C>G)
12g.121627063C>TCA6837435ORAI1n.425+130C>T
c.303+13C>T (n.303+13C>T)
n.501+13C>T
c.127C>T (p.Arg43Cys)
c.114+13C>T (n.114+13C>T)
ClinVar ExAC gnomAD v2 gnomAD v4

Number of alleles fetched