Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.15445598_15445607delCA2739272322CTRCc.641_650del
c.*95_*104del
n.405_414del
c.495_504del
 ClinVar
1g.15445606G>ACA613437CTRCc.649G>A (p.Gly217Ser)
c.*103G>A (n.*103G>A)
n.413G>A
c.503G>A (p.Arg168Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445606G>CCA16616982CTRCc.649G>C (p.Gly217Arg)
c.*103G>C (n.*103G>C)
n.413G>C
c.503G>C (p.Arg168Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.15445606G=CA1143522521CTRCc.649G= (p.Gly217=)
c.*103G= (n.*103G=)
n.413G=
c.503G= (p.Arg168=)
1g.15445606G>TCA338567688CTRCc.649G>T (p.Gly217Cys)
c.*103G>T (n.*103G>T)
n.413G>T
c.503G>T (p.Arg168Leu)
1g.15445607G>ACA338567689CTRCc.650G>A (p.Gly217Asp)
c.*104G>A (n.*104G>A)
n.414G>A
c.504G>A (p.Arg168=)
1g.15445607G>CCA338567690CTRCc.650G>C (p.Gly217Ala)
c.*104G>C (n.*104G>C)
n.414G>C
c.504G>C (p.Arg168=)
1g.15445607G>TCA338567691CTRCc.650G>T (p.Gly217Val)
c.*104G>T (n.*104G>T)
n.414G>T
c.504G>T (p.Arg168=)
1g.15445608T>ACA416207341CTRCc.651T>A (p.Gly217=)
c.*105T>A (n.*105T>A)
n.415T>A
c.505T>A (p.Trp169Arg)
1g.15445608T>CCA416207342CTRCc.651T>C (p.Gly217=)
c.*105T>C (n.*105T>C)
n.415T>C
c.505T>C (p.Trp169Arg)
1g.15445608T>GCA416207343CTRCc.651T>G (p.Gly217=)
c.*105T>G (n.*105T>G)
n.415T>G
c.505T>G (p.Trp169Gly)
1g.15445609G>ACA338567692CTRCc.652G>A (p.Gly218Ser)
c.*106G>A (n.*106G>A)
n.416G>A
c.506G>A (p.Trp169Ter)
1g.15445609G>CCA338567693CTRCc.652G>C (p.Gly218Arg)
c.*106G>C (n.*106G>C)
n.416G>C
c.506G>C (p.Trp169Ser)
1g.15445609G>TCA338567694CTRCc.652G>T (p.Gly218Cys)
c.*106G>T (n.*106G>T)
n.416G>T
c.506G>T (p.Trp169Leu)
1g.15445610G>ACA338567695CTRCc.653G>A (p.Gly218Asp)
c.*107G>A (n.*107G>A)
n.417G>A
c.507G>A (p.Trp169Ter)
 ClinVar
1g.15445610G>CCA338567696CTRCc.653G>C (p.Gly218Ala)
c.*107G>C (n.*107G>C)
n.417G>C
c.507G>C (p.Trp169Cys)
1g.15445610G>TCA338567697CTRCc.653G>T (p.Gly218Val)
c.*107G>T (n.*107G>T)
n.417G>T
c.507G>T (p.Trp169Cys)
1g.15445611C>ACA416207344CTRCc.654C>A (p.Gly218=)
c.*108C>A (n.*108C>A)
n.418C>A
c.508C>A (p.Pro170Thr)
1g.15445611C=CA1155328508CTRCc.654C= (p.Gly218=)
c.*108C= (n.*108C=)
n.418C=
c.508C= (p.Pro170=)
1g.15445611C>GCA416207345CTRCc.654C>G (p.Gly218=)
c.*108C>G (n.*108C>G)
n.418C>G
c.508C>G (p.Pro170Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445611C>TCA416207346CTRCc.654C>T (p.Gly218=)
c.*108C>T (n.*108C>T)
n.418C>T
c.508C>T (p.Pro170Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.15445612C>ACA338567698CTRCc.655C>A (p.Pro219Thr)
c.*109C>A (n.*109C>A)
n.419C>A
c.509C>A (p.Pro170His)
1g.15445612C>GCA338567699CTRCc.655C>G (p.Pro219Ala)
c.*109C>G (n.*109C>G)
n.419C>G
c.509C>G (p.Pro170Arg)
 gnomAD v4
1g.15445612C>TCA338567700CTRCc.655C>T (p.Pro219Ser)
c.*109C>T (n.*109C>T)
n.419C>T
c.509C>T (p.Pro170Leu)
1g.15445613C>ACA338567703CTRCc.656C>A (p.Pro219Gln)
c.*110C>A (n.*110C>A)
n.420C>A
c.510C>A (p.Pro170=)
1g.15445613C=CA1155328513CTRCc.656C= (p.Pro219=)
c.*110C= (n.*110C=)
n.420C=
c.510C= (p.Pro170=)
1g.15445613C>GCA338567702CTRCc.656C>G (p.Pro219Arg)
c.*110C>G (n.*110C>G)
n.420C>G
c.510C>G (p.Pro170=)
1g.15445613C>TCA338567701CTRCc.656C>T (p.Pro219Leu)
c.*110C>T (n.*110C>T)
n.420C>T
c.510C>T (p.Pro170=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.15445614A>CCA416207347CTRCc.657A>C (p.Pro219=)
c.*111A>C (n.*111A>C)
n.421A>C
c.511A>C (p.Thr171Pro)
1g.15445614A>GCA416207348CTRCc.657A>G (p.Pro219=)
c.*111A>G (n.*111A>G)
n.421A>G
c.511A>G (p.Thr171Ala)
1g.15445614A>TCA416207349CTRCc.657A>T (p.Pro219=)
c.*111A>T (n.*111A>T)
n.421A>T
c.511A>T (p.Thr171Ser)
1g.15445615C>ACA338567705CTRCc.658C>A (p.Leu220Met)
c.*112C>A (n.*112C>A)
n.422C>A
c.512C>A (p.Thr171Asn)
1g.15445615C>GCA338567704CTRCc.658C>G (p.Leu220Val)
c.*112C>G (n.*112C>G)
n.422C>G
c.512C>G (p.Thr171Ser)
 ClinVar dbSNP
1g.15445615C>TCA416207350CTRCc.658C>T (p.Leu220=)
c.*112C>T (n.*112C>T)
n.422C>T
c.512C>T (p.Thr171Ile)
1g.15445616T>ACA338567706CTRCc.659T>A (p.Leu220Gln)
c.*113T>A (n.*113T>A)
n.423T>A
c.513T>A (p.Thr171=)
1g.15445616T>CCA338567707CTRCc.659T>C (p.Leu220Pro)
c.*113T>C (n.*113T>C)
n.423T>C
c.513T>C (p.Thr171=)
1g.15445616T>GCA338567708CTRCc.659T>G (p.Leu220Arg)
c.*113T>G (n.*113T>G)
n.423T>G
c.513T>G (p.Thr171=)
1g.15445617G>ACA416207353CTRCc.660G>A (p.Leu220=)
c.*114G>A (n.*114G>A)
n.424G>A
c.514G>A (p.Glu172Lys)
 ClinVar
1g.15445617G>CCA416207351CTRCc.660G>C (p.Leu220=)
c.*114G>C (n.*114G>C)
n.424G>C
c.514G>C (p.Glu172Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445617G=CA1155328515CTRCc.660G= (p.Leu220=)
c.*114G= (n.*114G=)
n.424G=
c.514G= (p.Glu172=)
1g.15445617G>TCA416207352CTRCc.660G>T (p.Leu220=)
c.*114G>T (n.*114G>T)
n.424G>T
c.514G>T (p.Glu172Ter)
1g.15445618A>CCA338567709CTRCc.661A>C (p.Asn221His)
c.*115A>C (n.*115A>C)
n.425A>C
c.515A>C (p.Glu172Ala)
1g.15445618A>GCA338567710CTRCc.661A>G (p.Asn221Asp)
c.*115A>G (n.*115A>G)
n.425A>G
c.515A>G (p.Glu172Gly)
1g.15445618A>TCA338567711CTRCc.661A>T (p.Asn221Tyr)
c.*115A>T (n.*115A>T)
n.425A>T
c.515A>T (p.Glu172Val)
 ClinVar gnomAD v4
1g.15445619A>CCA338567714CTRCc.662A>C (p.Asn221Thr)
c.*116A>C (n.*116A>C)
n.426A>C
c.516A>C (p.Glu172Asp)
1g.15445619A>GCA338567712CTRCc.662A>G (p.Asn221Ser)
c.*116A>G (n.*116A>G)
n.426A>G
c.516A>G (p.Glu172=)
1g.15445619A>TCA338567713CTRCc.662A>T (p.Asn221Ile)
c.*116A>T (n.*116A>T)
n.426A>T
c.516A>T (p.Glu172Asp)
1g.15445620C>ACA338567715CTRCc.663C>A (p.Asn221Lys)
c.*117C>A (n.*117C>A)
n.427C>A
c.517C>A (p.Leu173Met)
1g.15445620C>GCA338567716CTRCc.663C>G (p.Asn221Lys)
c.*117C>G (n.*117C>G)
n.427C>G
c.517C>G (p.Leu173Val)
1g.15445620C>TCA416207354CTRCc.663C>T (p.Asn221=)
c.*117C>T (n.*117C>T)
n.427C>T
c.517C>T (p.Leu173=)
1g.15445621T>ACA338567717CTRCc.664T>A (p.Cys222Ser)
c.*118T>A (n.*118T>A)
n.428T>A
c.518T>A (p.Leu173Gln)
1g.15445621T>CCA338567718CTRCc.664T>C (p.Cys222Arg)
c.*118T>C (n.*118T>C)
n.428T>C
c.518T>C (p.Leu173Pro)
 ClinVar dbSNP
1g.15445621T>GCA338567719CTRCc.664T>G (p.Cys222Gly)
c.*118T>G (n.*118T>G)
n.428T>G
c.518T>G (p.Leu173Arg)
1g.15445621T=CA1155328526CTRCc.664T= (p.Cys222=)
c.*118T= (n.*118T=)
n.428T=
c.518T= (p.Leu173=)
1g.15445622G>ACA338567720CTRCc.665G>A (p.Cys222Tyr)
c.*119G>A (n.*119G>A)
n.429G>A
c.519G>A (p.Leu173=)
1g.15445622G>CCA338567722CTRCc.665G>C (p.Cys222Ser)
c.*119G>C (n.*119G>C)
n.429G>C
c.519G>C (p.Leu173=)
1g.15445622G>TCA338567721CTRCc.665G>T (p.Cys222Phe)
c.*119G>T (n.*119G>T)
n.429G>T
c.519G>T (p.Leu173=)
1g.15445623C>ACA338567723CTRCc.666C>A (p.Cys222Ter)
c.*120C>A (n.*120C>A)
n.430C>A
c.520C>A (p.Pro174Thr)
 gnomAD v4
1g.15445623C=CA1155328529CTRCc.666C= (p.Cys222=)
c.*120C= (n.*120C=)
n.430C=
c.520C= (p.Pro174=)
1g.15445623C>GCA338567724CTRCc.666C>G (p.Cys222Trp)
c.*120C>G (n.*120C>G)
n.430C>G
c.520C>G (p.Pro174Ala)
1g.15445623C>TCA416207355CTRCc.666C>T (p.Cys222=)
c.*120C>T (n.*120C>T)
n.430C>T
c.520C>T (p.Pro174Ser)
 ClinVar dbSNP
1g.15445624C>ACA338567725CTRCc.667C>A (p.Gln223Lys)
c.*121C>A (n.*121C>A)
n.431C>A
c.521C>A (p.Pro174Gln)
1g.15445624C>GCA338567726CTRCc.667C>G (p.Gln223Glu)
c.*121C>G (n.*121C>G)
n.431C>G
c.521C>G (p.Pro174Arg)
 ClinVar gnomAD v4
1g.15445624C>TCA338567727CTRCc.667C>T (p.Gln223Ter)
c.*121C>T (n.*121C>T)
n.431C>T
c.521C>T (p.Pro174Leu)
1g.15445625A=CA1155328532CTRCc.668A= (p.Gln223=)
c.*122A= (n.*122A=)
n.432A=
c.522A= (p.Pro174=)
1g.15445625A>CCA338567728CTRCc.668A>C (p.Gln223Pro)
c.*122A>C (n.*122A>C)
n.432A>C
c.522A>C (p.Pro174=)
1g.15445625A>GCA338567729CTRCc.668A>G (p.Gln223Arg)
c.*122A>G (n.*122A>G)
n.432A>G
c.522A>G (p.Pro174=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445625A>TCA338567730CTRCc.668A>T (p.Gln223Leu)
c.*122A>T (n.*122A>T)
n.432A>T
c.522A>T (p.Pro174=)
1g.15445626G>ACA416207356CTRCc.669G>A (p.Gln223=)
c.*123G>A (n.*123G>A)
n.433G>A
c.523G>A (p.Val175Ile)
 ClinVar gnomAD v4
1g.15445626G>CCA613438CTRCc.669G>C (p.Gln223His)
c.*123G>C (n.*123G>C)
n.433G>C
c.523G>C (p.Val175Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445626G=CA1155328538CTRCc.669G= (p.Gln223=)
c.*123G= (n.*123G=)
n.433G=
c.523G= (p.Val175=)
1g.15445626G>TCA338567731CTRCc.669G>T (p.Gln223His)
c.*123G>T (n.*123G>T)
n.433G>T
c.523G>T (p.Val175Phe)
 gnomAD v4
1g.15445627T>ACA338567732CTRCc.670T>A (p.Leu224Met)
c.*124T>A (n.*124T>A)
n.434T>A
c.524T>A (p.Val175Asp)
1g.15445627T>CCA416207357CTRCc.670T>C (p.Leu224=)
c.*124T>C (n.*124T>C)
n.434T>C
c.524T>C (p.Val175Ala)
 ClinVar
1g.15445627T>GCA338567733CTRCc.670T>G (p.Leu224Val)
c.*124T>G (n.*124T>G)
n.434T>G
c.524T>G (p.Val175Gly)
1g.15445628T>ACA338567734CTRCc.671T>A (p.Leu224Ter)
c.*125T>A (n.*125T>A)
n.435T>A
c.525T>A (p.Val175=)
1g.15445628T>CCA338567736CTRCc.671T>C (p.Leu224Ser)
c.*125T>C (n.*125T>C)
n.435T>C
c.525T>C (p.Val175=)
1g.15445628T>GCA338567735CTRCc.671T>G (p.Leu224Trp)
c.*125T>G (n.*125T>G)
n.435T>G
c.525T>G (p.Val175=)
1g.15445629G>ACA416207358CTRCc.672G>A (p.Leu224=)
c.*126G>A (n.*126G>A)
n.436G>A
c.526G>A (p.Gly176Arg)
 ClinVar dbSNP
1g.15445629G>CCA338567737CTRCc.672G>C (p.Leu224Phe)
c.*126G>C (n.*126G>C)
n.436G>C
c.526G>C (p.Gly176Arg)
1g.15445629G>TCA338567738CTRCc.672G>T (p.Leu224Phe)
c.*126G>T (n.*126G>T)
n.436G>T
c.526G>T (p.Gly176Ter)
 ClinVar
1g.15445630G>ACA338567739CTRCc.673G>A (p.Glu225Lys)
c.*127G>A (n.*127G>A)
n.437G>A
c.527G>A (p.Gly176Glu)
 dbSNP
1g.15445630G>CCA338567740CTRCc.673G>C (p.Glu225Gln)
c.*127G>C (n.*127G>C)
n.437G>C
c.527G>C (p.Gly176Ala)
1g.15445630G>TCA338567741CTRCc.673G>T (p.Glu225Ter)
c.*127G>T (n.*127G>T)
n.437G>T
c.527G>T (p.Gly176Val)
1g.15445631A=CA1143485616CTRCc.674A= (p.Glu225=)
c.*128A= (n.*128A=)
n.438A=
c.528A= (p.Gly176=)
1g.15445631A>CCA613439CTRCc.674A>C (p.Glu225Ala)
c.*128A>C (n.*128A>C)
n.438A>C
c.528A>C (p.Gly176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445631A>GCA338567742CTRCc.674A>G (p.Glu225Gly)
c.*128A>G (n.*128A>G)
n.438A>G
c.528A>G (p.Gly176=)
1g.15445631A>TCA338567743CTRCc.674A>T (p.Glu225Val)
c.*128A>T (n.*128A>T)
n.438A>T
c.528A>T (p.Gly176=)
1g.15445632G>ACA416207359CTRCc.675G>A (p.Glu225=)
c.*129G>A (n.*129G>A)
n.439G>A
c.529G>A (p.Glu177Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445632G>CCA338567744CTRCc.675G>C (p.Glu225Asp)
c.*129G>C (n.*129G>C)
n.439G>C
c.529G>C (p.Glu177Gln)
1g.15445632G=CA1155328550CTRCc.675G= (p.Glu225=)
c.*129G= (n.*129G=)
n.439G=
c.529G= (p.Glu177=)
1g.15445632G>TCA338567745CTRCc.675G>T (p.Glu225Asp)
c.*129G>T (n.*129G>T)
n.439G>T
c.529G>T (p.Glu177Ter)
1g.15445633A=CA1155328552CTRCc.676A= (p.Asn226=)
c.*130A= (n.*130A=)
n.440A=
c.530A= (p.Glu177=)
1g.15445633A>CCA338567746CTRCc.676A>C (p.Asn226His)
c.*130A>C (n.*130A>C)
n.440A>C
c.530A>C (p.Glu177Ala)
1g.15445633A>GCA338567747CTRCc.676A>G (p.Asn226Asp)
c.*130A>G (n.*130A>G)
n.440A>G
c.530A>G (p.Glu177Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.15445633A>TCA338567748CTRCc.676A>T (p.Asn226Tyr)
c.*130A>T (n.*130A>T)
n.440A>T
c.530A>T (p.Glu177Val)
1g.15445634A>CCA338567751CTRCc.677A>C (p.Asn226Thr)
c.*131A>C (n.*131A>C)
n.441A>C
c.531A>C (p.Glu177Asp)
1g.15445634A>GCA338567749CTRCc.677A>G (p.Asn226Ser)
c.*131A>G (n.*131A>G)
n.441A>G
c.531A>G (p.Glu177=)
1g.15445634A>TCA338567750CTRCc.677A>T (p.Asn226Ile)
c.*131A>T (n.*131A>T)
n.441A>T
c.531A>T (p.Glu177Asp)
1g.15445635C>ACA18253735CTRCc.678C>A (p.Asn226Lys)
c.*132C>A (n.*132C>A)
n.442C>A
c.532C>A (p.Arg178=)
 dbSNP
1g.15445635C=CA1155328558CTRCc.678C= (p.Asn226=)
c.*132C= (n.*132C=)
n.442C=
c.532C= (p.Arg178=)
1g.15445635C>GCA338567752CTRCc.678C>G (p.Asn226Lys)
c.*132C>G (n.*132C>G)
n.442C>G
c.532C>G (p.Arg178Gly)
1g.15445635C>TCA613440CTRCc.678C>T (p.Asn226=)
c.*132C>T (n.*132C>T)
n.442C>T
c.532C>T (p.Arg178Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.15445636G>ACA613441CTRCc.679G>A (p.Gly227Ser)
c.*133G>A (n.*133G>A)
n.443G>A
c.533G>A (p.Arg178Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445636G>CCA338567753CTRCc.679G>C (p.Gly227Arg)
c.*133G>C (n.*133G>C)
n.443G>C
c.533G>C (p.Arg178Pro)
1g.15445636G=CA1147320399CTRCc.679G= (p.Gly227=)
c.*133G= (n.*133G=)
n.443G=
c.533G= (p.Arg178=)
1g.15445636G>TCA338567754CTRCc.679G>T (p.Gly227Cys)
c.*133G>T (n.*133G>T)
n.443G>T
c.533G>T (p.Arg178Leu)
1g.15445637G>ACA613442CTRCc.680G>A (p.Gly227Asp)
c.*134G>A (n.*134G>A)
n.444G>A
c.534G>A (p.Arg178=)
 dbSNP ExAC gnomAD v2 COSMIC
1g.15445637G>CCA338567755CTRCc.680G>C (p.Gly227Ala)
c.*134G>C (n.*134G>C)
n.444G>C
c.534G>C (p.Arg178=)
1g.15445637G=CA1141841631CTRCc.680G= (p.Gly227=)
c.*134G= (n.*134G=)
n.444G=
c.534G= (p.Arg178=)
1g.15445637G>TCA338567756CTRCc.680G>T (p.Gly227Val)
c.*134G>T (n.*134G>T)
n.444G>T
c.534G>T (p.Arg178=)
1g.15445638T>ACA416207360CTRCc.681T>A (p.Gly227=)
c.*135T>A (n.*135T>A)
n.445T>A
c.535T>A (p.Phe179Ile)
 ClinVar dbSNP gnomAD v4
1g.15445638T>CCA416207361CTRCc.681T>C (p.Gly227=)
c.*135T>C (n.*135T>C)
n.445T>C
c.535T>C (p.Phe179Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445638T>GCA416207362CTRCc.681T>G (p.Gly227=)
c.*135T>G (n.*135T>G)
n.445T>G
c.535T>G (p.Phe179Val)
1g.15445638T=CA1155328572CTRCc.681T= (p.Gly227=)
c.*135T= (n.*135T=)
n.445T=
c.535T= (p.Phe179=)
1g.15445639T>ACA338567757CTRCc.682T>A (p.Ser228Thr)
c.*136T>A (n.*136T>A)
n.446T>A
c.536T>A (p.Phe179Tyr)
1g.15445639T>CCA338567758CTRCc.682T>C (p.Ser228Pro)
c.*136T>C (n.*136T>C)
n.446T>C
c.536T>C (p.Phe179Ser)
1g.15445639T>GCA338567759CTRCc.682T>G (p.Ser228Ala)
c.*136T>G (n.*136T>G)
n.446T>G
c.536T>G (p.Phe179Cys)
1g.15445640C>ACA338567760CTRCc.683C>A (p.Ser228Tyr)
c.*137C>A (n.*137C>A)
n.447C>A
c.537C>A (p.Phe179Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.15445640C=CA1155328576CTRCc.683C= (p.Ser228=)
c.*137C= (n.*137C=)
n.447C=
c.537C= (p.Phe179=)
1g.15445640C>GCA613443CTRCc.683C>G (p.Ser228Cys)
c.*137C>G (n.*137C>G)
n.447C>G
c.537C>G (p.Phe179Leu)
 dbSNP ExAC gnomAD v2
1g.15445640C>TCA18253754CTRCc.683C>T (p.Ser228Phe)
c.*137C>T (n.*137C>T)
n.447C>T
c.537C>T (p.Phe179=)
 dbSNP gnomAD v3 gnomAD v4
1g.15445641C>ACA416207363CTRCc.684C>A (p.Ser228=)
c.*138C>A (n.*138C>A)
n.448C>A
c.538C>A (p.Leu180Met)
1g.15445641C>GCA416207364CTRCc.684C>G (p.Ser228=)
c.*138C>G (n.*138C>G)
n.448C>G
c.538C>G (p.Leu180Val)
1g.15445641C>TCA416207365CTRCc.684C>T (p.Ser228=)
c.*138C>T (n.*138C>T)
n.448C>T
c.538C>T (p.Leu180=)
 COSMIC
1g.15445642T>ACA338567761CTRCc.685T>A (p.Trp229Arg)
c.*139T>A (n.*139T>A)
n.449T>A
c.539T>A (p.Leu180Gln)
1g.15445642T>CCA338567763CTRCc.685T>C (p.Trp229Arg)
c.*139T>C (n.*139T>C)
n.449T>C
c.539T>C (p.Leu180Pro)
 dbSNP gnomAD v4
1g.15445642T>GCA338567762CTRCc.685T>G (p.Trp229Gly)
c.*139T>G (n.*139T>G)
n.449T>G
c.539T>G (p.Leu180Arg)
1g.15445642T=CA1155328579CTRCc.685T= (p.Trp229=)
c.*139T= (n.*139T=)
n.449T=
c.539T= (p.Leu180=)
1g.15445643G>ACA338567764CTRCc.686G>A (p.Trp229Ter)
c.*140G>A (n.*140G>A)
n.450G>A
c.540G>A (p.Leu180=)
1g.15445643G>CCA338567765CTRCc.686G>C (p.Trp229Ser)
c.*140G>C (n.*140G>C)
n.450G>C
c.540G>C (p.Leu180=)
1g.15445643G>TCA338567766CTRCc.686G>T (p.Trp229Leu)
c.*140G>T (n.*140G>T)
n.450G>T
c.540G>T (p.Leu180=)
1g.15445644G>ACA338567767CTRCc.687G>A (p.Trp229Ter)
c.*141G>A (n.*141G>A)
n.451G>A
c.541G>A (p.Gly181Arg)
 gnomAD v4
1g.15445644G>CCA338567768CTRCc.687G>C (p.Trp229Cys)
c.*141G>C (n.*141G>C)
n.451G>C
c.541G>C (p.Gly181Arg)
1g.15445644G>TCA338567769CTRCc.687G>T (p.Trp229Cys)
c.*141G>T (n.*141G>T)
n.451G>T
c.541G>T (p.Gly181Ter)
1g.15445645G>ACA338567770CTRCc.688G>A (p.Glu230Lys)
c.*142G>A (n.*142G>A)
n.452G>A
c.542G>A (p.Gly181Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445645G>CCA338567771CTRCc.688G>C (p.Glu230Gln)
c.*142G>C (n.*142G>C)
n.452G>C
c.542G>C (p.Gly181Ala)
1g.15445645G=CA1155328584CTRCc.688G= (p.Glu230=)
c.*142G= (n.*142G=)
n.452G=
c.542G= (p.Gly181=)
1g.15445645G>TCA338567772CTRCc.688G>T (p.Glu230Ter)
c.*142G>T (n.*142G>T)
n.452G>T
c.542G>T (p.Gly181Val)
1g.15445646A>CCA338567773CTRCc.689A>C (p.Glu230Ala)
c.*143A>C (n.*143A>C)
n.453A>C
c.543A>C (p.Gly181=)
1g.15445646A>GCA338567774CTRCc.689A>G (p.Glu230Gly)
c.*143A>G (n.*143A>G)
n.453A>G
c.543A>G (p.Gly181=)
1g.15445646A>TCA338567775CTRCc.689A>T (p.Glu230Val)
c.*143A>T (n.*143A>T)
n.453A>T
c.543A>T (p.Gly181=)
1g.15445647G>ACA613444CTRCc.690G>A (p.Glu230=)
c.*144G>A (n.*144G>A)
n.454G>A
c.544G>A (p.Gly182Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445647G>CCA338567776CTRCc.690G>C (p.Glu230Asp)
c.*144G>C (n.*144G>C)
n.454G>C
c.544G>C (p.Gly182Arg)
1g.15445647G=CA1140968875CTRCc.690G= (p.Glu230=)
c.*144G= (n.*144G=)
n.454G=
c.544G= (p.Gly182=)
1g.15445647G>TCA338567777CTRCc.690G>T (p.Glu230Asp)
c.*144G>T (n.*144G>T)
n.454G>T
c.544G>T (p.Gly182Cys)
1g.15445648G>ACA338567778CTRCc.691G>A (p.Val231Met)
c.*145G>A (n.*145G>A)
n.455G>A
c.545G>A (p.Gly182Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.15445648G>CCA338567779CTRCc.691G>C (p.Val231Leu)
c.*145G>C (n.*145G>C)
n.455G>C
c.545G>C (p.Gly182Ala)
1g.15445648G=CA1155328592CTRCc.691G= (p.Val231=)
c.*145G= (n.*145G=)
n.455G=
c.545G= (p.Gly182=)
1g.15445648G>TCA338567780CTRCc.691G>T (p.Val231Leu)
c.*145G>T (n.*145G>T)
n.455G>T
c.545G>T (p.Gly182Val)
1g.15445649T>ACA338567781CTRCc.692T>A (p.Val231Glu)
c.*146T>A (n.*146T>A)
n.456T>A
c.546T>A (p.Gly182=)
1g.15445649T>CCA338567782CTRCc.692T>C (p.Val231Ala)
c.*146T>C (n.*146T>C)
n.456T>C
c.546T>C (p.Gly182=)
1g.15445649T>GCA338567783CTRCc.692T>G (p.Val231Gly)
c.*146T>G (n.*146T>G)
n.456T>G
c.546T>G (p.Gly182=)
1g.15445650G>ACA416207368CTRCc.693G>A (p.Val231=)
c.*147G>A (n.*147G>A)
n.457G>A
c.547G>A (p.Val183Ile)
1g.15445650G>CCA416207366CTRCc.693G>C (p.Val231=)
c.*147G>C (n.*147G>C)
n.457G>C
c.547G>C (p.Val183Leu)
1g.15445650G>TCA416207367CTRCc.693G>T (p.Val231=)
c.*147G>T (n.*147G>T)
n.457G>T
c.547G>T (p.Val183Phe)
1g.15445651T>ACA338567784CTRCc.694T>A (p.Phe232Ile)
c.*148T>A (n.*148T>A)
n.458T>A
c.548T>A (p.Val183Asp)
1g.15445651T>CCA338567785CTRCc.694T>C (p.Phe232Leu)
c.*148T>C (n.*148T>C)
n.458T>C
c.548T>C (p.Val183Ala)
1g.15445651T>GCA338567786CTRCc.694T>G (p.Phe232Val)
c.*148T>G (n.*148T>G)
n.458T>G
c.548T>G (p.Val183Gly)
1g.15445652T>ACA338567787CTRCc.695T>A (p.Phe232Tyr)
c.*149T>A (n.*149T>A)
n.459T>A
c.549T>A (p.Val183=)
1g.15445652T>CCA338567788CTRCc.695T>C (p.Phe232Ser)
c.*149T>C (n.*149T>C)
n.459T>C
c.549T>C (p.Val183=)
1g.15445652T>GCA338567789CTRCc.695T>G (p.Phe232Cys)
c.*149T>G (n.*149T>G)
n.459T>G
c.549T>G (p.Val183=)
1g.15445653T>ACA338567791CTRCc.696T>A (p.Phe232Leu)
c.*150T>A (n.*150T>A)
n.460T>A
c.550T>A (p.Trp184Arg)
1g.15445653T>CCA416207369CTRCc.696T>C (p.Phe232=)
c.*150T>C (n.*150T>C)
n.460T>C
c.550T>C (p.Trp184Arg)
 ClinVar dbSNP
1g.15445653T>GCA338567790CTRCc.696T>G (p.Phe232Leu)
c.*150T>G (n.*150T>G)
n.460T>G
c.550T>G (p.Trp184Gly)
1g.15445653T=CA1155328597CTRCc.696T= (p.Phe232=)
c.*150T= (n.*150T=)
n.460T=
c.550T= (p.Trp184=)
1g.15445654G>ACA338567792CTRCc.697G>A (p.Gly233Ser)
c.*151G>A (n.*151G>A)
n.461G>A
c.551G>A (p.Trp184Ter)
 gnomAD v4
1g.15445654G>CCA338567793CTRCc.697G>C (p.Gly233Arg)
c.*151G>C (n.*151G>C)
n.461G>C
c.551G>C (p.Trp184Ser)
1g.15445654G>TCA338567794CTRCc.697G>T (p.Gly233Cys)
c.*151G>T (n.*151G>T)
n.461G>T
c.551G>T (p.Trp184Leu)
1g.15445654_15445659delinsGGCATCCA1155328600CTRCc.697_702delinsGGCATC (p.Gly233=)
c.*151_*156delinsGGCATC (n.*151_*156delinsGGCATC)
n.461_466delinsGGCATC
c.551_556delinsGGCATC (p.Trp184=)
1g.15445655G>ACA338567795CTRCc.698G>A (p.Gly233Asp)
c.*152G>A (n.*152G>A)
n.462G>A
c.552G>A (p.Trp184Ter)
 ClinVar
1g.15445655G>CCA338567796CTRCc.698G>C (p.Gly233Ala)
c.*152G>C (n.*152G>C)
n.462G>C
c.552G>C (p.Trp184Cys)
1g.15445655G=CA1155328605CTRCc.698G= (p.Gly233=)
c.*152G= (n.*152G=)
n.462G=
c.552G= (p.Trp184=)
1g.15445655G>TCA338567797CTRCc.698G>T (p.Gly233Val)
c.*152G>T (n.*152G>T)
n.462G>T
c.552G>T (p.Trp184Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.15445656_15445660delCA658795400CTRCc.699_703del (p.Ile234GlnfsTer?)
c.*153_*157del (n.*153_*157del)
n.463_467del
c.553_557del (p.His185SerfsTer16)
 ClinVar dbSNP
1g.15445656C>ACA416207370CTRCc.699C>A (p.Gly233=)
c.*153C>A (n.*153C>A)
n.463C>A
c.553C>A (p.His185Asn)
1g.15445656C=CA1155328608CTRCc.699C= (p.Gly233=)
c.*153C= (n.*153C=)
n.463C=
c.553C= (p.His185=)
1g.15445656C>GCA416207371CTRCc.699C>G (p.Gly233=)
c.*153C>G (n.*153C>G)
n.463C>G
c.553C>G (p.His185Asp)
1g.15445656C>TCA613445CTRCc.699C>T (p.Gly233=)
c.*153C>T (n.*153C>T)
n.463C>T
c.553C>T (p.His185Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445657A>CCA338567800CTRCc.700A>C (p.Ile234Leu)
c.*154A>C (n.*154A>C)
n.464A>C
c.554A>C (p.His185Pro)
1g.15445657A>GCA338567798CTRCc.700A>G (p.Ile234Val)
c.*154A>G (n.*154A>G)
n.464A>G
c.554A>G (p.His185Arg)
 ClinVar gnomAD v4
1g.15445657A>TCA338567799CTRCc.700A>T (p.Ile234Phe)
c.*154A>T (n.*154A>T)
n.464A>T
c.554A>T (p.His185Leu)
1g.15445658T>ACA338567801CTRCc.701T>A (p.Ile234Asn)
c.*155T>A (n.*155T>A)
n.465T>A
c.555T>A (p.His185Gln)
1g.15445658T>CCA338567802CTRCc.701T>C (p.Ile234Thr)
c.*155T>C (n.*155T>C)
n.465T>C
c.555T>C (p.His185=)
1g.15445658T>GCA338567803CTRCc.701T>G (p.Ile234Ser)
c.*155T>G (n.*155T>G)
n.465T>G
c.555T>G (p.His185Gln)
1g.15445659C>ACA416207372CTRCc.702C>A (p.Ile234=)
c.*156C>A (n.*156C>A)
n.466C>A
c.556C>A (p.Arg186Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445659C=CA1155328613CTRCc.702C= (p.Ile234=)
c.*156C= (n.*156C=)
n.466C=
c.556C= (p.Arg186=)
1g.15445659C>GCA338567804CTRCc.702C>G (p.Ile234Met)
c.*156C>G (n.*156C>G)
n.466C>G
c.556C>G (p.Arg186Gly)
1g.15445659C>TCA613446CTRCc.702C>T (p.Ile234=)
c.*156C>T (n.*156C>T)
n.466C>T
c.556C>T (p.Arg186Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.15445660G>ACA613447CTRCc.703G>A (p.Val235Ile)
c.*157G>A (n.*157G>A)
n.467G>A
c.557G>A (p.Arg186His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.15445660G>CCA338567806CTRCc.703G>C (p.Val235Leu)
c.*157G>C (n.*157G>C)
n.467G>C
c.557G>C (p.Arg186Pro)
 gnomAD v4
1g.15445660G=CA1141777103CTRCc.703G= (p.Val235=)
c.*157G= (n.*157G=)
n.467G=
c.557G= (p.Arg186=)
1g.15445660G>TCA338567805CTRCc.703G>T (p.Val235Phe)
c.*157G>T (n.*157G>T)
n.467G>T
c.557G>T (p.Arg186Leu)
1g.15445661T>ACA338567807CTRCc.704T>A (p.Val235Asp)
c.*158T>A (n.*158T>A)
n.468T>A
c.558T>A (p.Arg186=)
 dbSNP gnomAD v2 gnomAD v4
1g.15445661T>CCA338567808CTRCc.704T>C (p.Val235Ala)
c.*158T>C (n.*158T>C)
n.468T>C
c.558T>C (p.Arg186=)
1g.15445661T>GCA613448CTRCc.704T>G (p.Val235Gly)
c.*158T>G (n.*158T>G)
n.468T>G
c.558T>G (p.Arg186=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445661T=CA1155328618CTRCc.704T= (p.Val235=)
c.*158T= (n.*158T=)
n.468T=
c.558T= (p.Arg186=)
1g.15445662C>ACA416207373CTRCc.705C>A (p.Val235=)
c.*159C>A (n.*159C>A)
n.469C>A
c.559C>A (p.Gln187Lys)
1g.15445662C>GCA416207374CTRCc.705C>G (p.Val235=)
c.*159C>G (n.*159C>G)
n.469C>G
c.559C>G (p.Gln187Glu)
1g.15445662C>TCA416207375CTRCc.705C>T (p.Val235=)
c.*159C>T (n.*159C>T)
n.469C>T
c.559C>T (p.Gln187Ter)
 ClinVar gnomAD v4
1g.15445663A>CCA338567809CTRCc.706A>C (p.Ser236Arg)
c.*160A>C (n.*160A>C)
n.470A>C
c.560A>C (p.Gln187Pro)
1g.15445663A>GCA338567810CTRCc.706A>G (p.Ser236Gly)
c.*160A>G (n.*160A>G)
n.470A>G
c.560A>G (p.Gln187Arg)
1g.15445663A>TCA338567811CTRCc.706A>T (p.Ser236Cys)
c.*160A>T (n.*160A>T)
n.470A>T
c.560A>T (p.Gln187Leu)
1g.15445664G>ACA338567812CTRCc.707G>A (p.Ser236Asn)
c.*161G>A (n.*161G>A)
n.471G>A
c.561G>A (p.Gln187=)
1g.15445664G>CCA338567813CTRCc.707G>C (p.Ser236Thr)
c.*161G>C (n.*161G>C)
n.471G>C
c.561G>C (p.Gln187His)
 ClinVar
1g.15445664G>TCA338567814CTRCc.707G>T (p.Ser236Ile)
c.*161G>T (n.*161G>T)
n.471G>T
c.561G>T (p.Gln187His)
1g.15445665C>ACA338567815CTRCc.708C>A (p.Ser236Arg)
c.*162C>A (n.*162C>A)
n.472C>A
c.562C>A (p.Leu188Ile)
1g.15445665C>GCA338567816CTRCc.708C>G (p.Ser236Arg)
c.*162C>G (n.*162C>G)
n.472C>G
c.562C>G (p.Leu188Val)
1g.15445665C>TCA416207376CTRCc.708C>T (p.Ser236=)
c.*162C>T (n.*162C>T)
n.472C>T
c.562C>T (p.Leu188Phe)
1g.15445666T>ACA338567819CTRCc.709T>A (p.Phe237Ile)
c.*163T>A (n.*163T>A)
n.473T>A
c.563T>A (p.Leu188His)
1g.15445666T>CCA338567817CTRCc.709T>C (p.Phe237Leu)
c.*163T>C (n.*163T>C)
n.473T>C
c.563T>C (p.Leu188Pro)
1g.15445666T>GCA338567818CTRCc.709T>G (p.Phe237Val)
c.*163T>G (n.*163T>G)
n.473T>G
c.563T>G (p.Leu188Arg)
1g.15445667T>ACA338567820CTRCc.710T>A (p.Phe237Tyr)
c.*164T>A (n.*164T>A)
n.474T>A
c.564T>A (p.Leu188=)
1g.15445667T>CCA338567822CTRCc.710T>C (p.Phe237Ser)
c.*164T>C (n.*164T>C)
n.474T>C
c.564T>C (p.Leu188=)
1g.15445667T>GCA338567821CTRCc.710T>G (p.Phe237Cys)
c.*164T>G (n.*164T>G)
n.474T>G
c.564T>G (p.Leu188=)
1g.15445668T>ACA338567823CTRCc.711T>A (p.Phe237Leu)
c.*165T>A (n.*165T>A)
n.475T>A
c.565T>A (p.Trp189Arg)
1g.15445668T>CCA416207377CTRCc.711T>C (p.Phe237=)
c.*165T>C (n.*165T>C)
n.475T>C
c.565T>C (p.Trp189Arg)
1g.15445668T>GCA338567824CTRCc.711T>G (p.Phe237Leu)
c.*165T>G (n.*165T>G)
n.475T>G
c.565T>G (p.Trp189Gly)
1g.15445669G>ACA338567825CTRCc.712G>A (p.Gly238Ser)
c.*166G>A (n.*166G>A)
n.476G>A
c.566G>A (p.Trp189Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.15445669G>CCA338567826CTRCc.712G>C (p.Gly238Arg)
c.*166G>C (n.*166G>C)
n.476G>C
c.566G>C (p.Trp189Ser)
1g.15445669G=CA1155328620CTRCc.712G= (p.Gly238=)
c.*166G= (n.*166G=)
n.476G=
c.566G= (p.Trp189=)
1g.15445669G>TCA338567827CTRCc.712G>T (p.Gly238Cys)
c.*166G>T (n.*166G>T)
n.476G>T
c.566G>T (p.Trp189Leu)
1g.15445670G>ACA338567828CTRCc.713G>A (p.Gly238Asp)
c.*167G>A (n.*167G>A)
n.477G>A
c.567G>A (p.Trp189Ter)
1g.15445670G>CCA338567829CTRCc.713G>C (p.Gly238Ala)
c.*167G>C (n.*167G>C)
n.477G>C
c.567G>C (p.Trp189Cys)
1g.15445670G>TCA338567830CTRCc.713G>T (p.Gly238Val)
c.*167G>T (n.*167G>T)
n.477G>T
c.567G>T (p.Trp189Cys)
1g.15445671delCA2643487263CTRCc.714del (p.Ser239ProfsTer12)
c.*168del (n.*168del)
n.478del
c.568del (p.Leu190SerfsTer?)
 gnomAD v4
1g.15445671C>ACA416207378CTRCc.714C>A (p.Gly238=)
c.*168C>A (n.*168C>A)
n.478C>A
c.568C>A (p.Leu190Ile)
1g.15445671C>GCA416207379CTRCc.714C>G (p.Gly238=)
c.*168C>G (n.*168C>G)
n.478C>G
c.568C>G (p.Leu190Val)
 ClinVar gnomAD v4
1g.15445671C>TCA416207380CTRCc.714C>T (p.Gly238=)
c.*168C>T (n.*168C>T)
n.478C>T
c.568C>T (p.Leu190Phe)
1g.15445672T>ACA338567831CTRCc.715T>A (p.Ser239Thr)
c.*169T>A (n.*169T>A)
n.479T>A
c.569T>A (p.Leu190His)
1g.15445672T>CCA338567832CTRCc.715T>C (p.Ser239Pro)
c.*169T>C (n.*169T>C)
n.479T>C
c.569T>C (p.Leu190Pro)
1g.15445672T>GCA338567833CTRCc.715T>G (p.Ser239Ala)
c.*169T>G (n.*169T>G)
n.479T>G
c.569T>G (p.Leu190Arg)
1g.15445673C>ACA338567836CTRCc.716C>A (p.Ser239Tyr)
c.*170C>A (n.*170C>A)
n.480C>A
c.570C>A (p.Leu190=)
1g.15445673C=CA1155328624CTRCc.716C= (p.Ser239=)
c.*170C= (n.*170C=)
n.480C=
c.570C= (p.Leu190=)
1g.15445673C>GCA338567834CTRCc.716C>G (p.Ser239Cys)
c.*170C>G (n.*170C>G)
n.480C>G
c.570C>G (p.Leu190=)
 dbSNP gnomAD v4
1g.15445673C>TCA338567835CTRCc.716C>T (p.Ser239Phe)
c.*170C>T (n.*170C>T)
n.480C>T
c.570C>T (p.Leu190=)
 ClinVar dbSNP
1g.15445674C>ACA416207381CTRCc.717C>A (p.Ser239=)
c.*171C>A (n.*171C>A)
n.481C>A
c.571C>A (p.Pro191Thr)
1g.15445674C>GCA416207382CTRCc.717C>G (p.Ser239=)
c.*171C>G (n.*171C>G)
n.481C>G
c.571C>G (p.Pro191Ala)
1g.15445674C>TCA416207383CTRCc.717C>T (p.Ser239=)
c.*171C>T (n.*171C>T)
n.481C>T
c.571C>T (p.Pro191Ser)
 ClinVar gnomAD v4
1g.15445675C>ACA416207384CTRCc.718C>A (p.Arg240=)
c.*172C>A (n.*172C>A)
n.482C>A
c.572C>A (p.Pro191Gln)
1g.15445675C=CA1143546641CTRCc.718C= (p.Arg240=)
c.*172C= (n.*172C=)
n.482C=
c.572C= (p.Pro191=)
1g.15445675C>GCA338567837CTRCc.718C>G (p.Arg240Gly)
c.*172C>G (n.*172C>G)
n.482C>G
c.572C>G (p.Pro191Arg)
1g.15445675C>TCA613449CTRCc.718C>T (p.Arg240Trp)
c.*172C>T (n.*172C>T)
n.482C>T
c.572C>T (p.Pro191Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445676G>ACA613450CTRCc.719G>A (p.Arg240Gln)
c.*173G>A (n.*173G>A)
n.483G>A
c.573G>A (p.Pro191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445676G>CCA338567838CTRCc.719G>C (p.Arg240Pro)
c.*173G>C (n.*173G>C)
n.483G>C
c.573G>C (p.Pro191=)
 dbSNP gnomAD v2
1g.15445676G=CA1155328633CTRCc.719G= (p.Arg240=)
c.*173G= (n.*173G=)
n.483G=
c.573G= (p.Pro191=)
1g.15445676G>TCA338567839CTRCc.719G>T (p.Arg240Leu)
c.*173G>T (n.*173G>T)
n.483G>T
c.573G>T (p.Pro191=)
1g.15445677G>ACA416207385CTRCc.720G>A (p.Arg240=)
c.*174G>A (n.*174G>A)
n.484G>A
c.574G>A (p.Ala192Thr)
1g.15445677G>CCA416207386CTRCc.720G>C (p.Arg240=)
c.*174G>C (n.*174G>C)
n.484G>C
c.574G>C (p.Ala192Pro)
1g.15445677G>TCA416207387CTRCc.720G>T (p.Arg240=)
c.*174G>T (n.*174G>T)
n.484G>T
c.574G>T (p.Ala192Ser)
1g.15445679_15445686dupCA2643487264CTRCc.722_729dup (p.Asn244GlyfsTer10)
c.*176_*183dup (n.*176_*183dup)
n.486_493dup
c.576_583dup (p.Gln195ArgfsTer29)
 gnomAD v4
1g.15445678C>ACA613451CTRCc.721C>A (p.Arg241=)
c.*175C>A (n.*175C>A)
n.485C>A
c.575C>A (p.Ala192Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445678C=CA1155328642CTRCc.721C= (p.Arg241=)
c.*175C= (n.*175C=)
n.485C=
c.575C= (p.Ala192=)
1g.15445678C>GCA338567840CTRCc.721C>G (p.Arg241Gly)
c.*175C>G (n.*175C>G)
n.485C>G
c.575C>G (p.Ala192Gly)
 ClinVar
1g.15445678C>TCA613453CTRCc.721C>T (p.Arg241Trp)
c.*175C>T (n.*175C>T)
n.485C>T
c.575C>T (p.Ala192Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.15445678_15445679delinsCGCA1155328643CTRCc.721_722delinsCG (p.Arg241=)
c.*175_*176delinsCG (n.*175_*176delinsCG)
n.485_486delinsCG
c.575_576delinsCG (p.Ala192=)
1g.15445679G>ACA613454CTRCc.722G>A (p.Arg241Gln)
c.*176G>A (n.*176G>A)
n.486G>A
c.576G>A (p.Ala192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445679G>CCA338567841CTRCc.722G>C (p.Arg241Pro)
c.*176G>C (n.*176G>C)
n.486G>C
c.576G>C (p.Ala192=)
1g.15445679G=CA1155328654CTRCc.722G= (p.Arg241=)
c.*176G= (n.*176G=)
n.486G=
c.576G= (p.Ala192=)
1g.15445679G>TCA338567842CTRCc.722G>T (p.Arg241Leu)
c.*176G>T (n.*176G>T)
n.486G>T
c.576G>T (p.Ala192=)
 ClinVar
1g.15445682dupCA1155328652CTRCc.725dup (p.Cys243LeufsTer?)
c.*179dup (n.*179dup)
n.489dup
c.579dup (p.Leu194AlafsTer9)
 dbSNP gnomAD v4
1g.15445682delCA613452CTRCc.725del (p.Gly242AlafsTer9)
c.*179del (n.*179del)
n.489del
c.579del (p.Leu194CysfsTer27)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445680G>ACA416207388CTRCc.723G>A (p.Arg241=)
c.*177G>A (n.*177G>A)
n.487G>A
c.577G>A (p.Gly193Arg)
1g.15445680G>CCA416207389CTRCc.723G>C (p.Arg241=)
c.*177G>C (n.*177G>C)
n.487G>C
c.577G>C (p.Gly193Arg)
1g.15445680G>TCA416207390CTRCc.723G>T (p.Arg241=)
c.*177G>T (n.*177G>T)
n.487G>T
c.577G>T (p.Gly193Trp)
1g.15445681G>ACA338567844CTRCc.724G>A (p.Gly242Ser)
c.*178G>A (n.*178G>A)
n.488G>A
c.578G>A (p.Gly193Glu)
 COSMIC
1g.15445681G>CCA338567845CTRCc.724G>C (p.Gly242Arg)
c.*178G>C (n.*178G>C)
n.488G>C
c.578G>C (p.Gly193Ala)
1g.15445681G>TCA338567843CTRCc.724G>T (p.Gly242Cys)
c.*178G>T (n.*178G>T)
n.488G>T
c.578G>T (p.Gly193Val)
1g.15445682G>ACA338567846CTRCc.725G>A (p.Gly242Asp)
c.*179G>A (n.*179G>A)
n.489G>A
c.579G>A (p.Gly193=)
 ClinVar
1g.15445682G>CCA338567847CTRCc.725G>C (p.Gly242Ala)
c.*179G>C (n.*179G>C)
n.489G>C
c.579G>C (p.Gly193=)
1g.15445682G>TCA338567848CTRCc.725G>T (p.Gly242Val)
c.*179G>T (n.*179G>T)
n.489G>T
c.579G>T (p.Gly193=)
1g.15445683C>ACA416207391CTRCc.726C>A (p.Gly242=)
c.*180C>A (n.*180C>A)
n.490C>A
c.580C>A (p.Leu194Met)
1g.15445683C>GCA416207392CTRCc.726C>G (p.Gly242=)
c.*180C>G (n.*180C>G)
n.490C>G
c.580C>G (p.Leu194Val)
1g.15445683C>TCA416207393CTRCc.726C>T (p.Gly242=)
c.*180C>T (n.*180C>T)
n.490C>T
c.580C>T (p.Leu194=)
1g.15445684T>ACA338567849CTRCc.727T>A (p.Cys243Ser)
c.*181T>A (n.*181T>A)
n.491T>A
c.581T>A (p.Leu194Gln)
1g.15445684T>CCA338567850CTRCc.727T>C (p.Cys243Arg)
c.*181T>C (n.*181T>C)
n.491T>C
c.581T>C (p.Leu194Pro)
1g.15445684T>GCA338567851CTRCc.727T>G (p.Cys243Gly)
c.*181T>G (n.*181T>G)
n.491T>G
c.581T>G (p.Leu194Arg)
1g.15445685G>ACA338567854CTRCc.728G>A (p.Cys243Tyr)
c.*182G>A (n.*182G>A)
n.492G>A
c.582G>A (p.Leu194=)
1g.15445685G>CCA338567852CTRCc.728G>C (p.Cys243Ser)
c.*182G>C (n.*182G>C)
n.492G>C
c.582G>C (p.Leu194=)
1g.15445685G>TCA338567853CTRCc.728G>T (p.Cys243Phe)
c.*182G>T (n.*182G>T)
n.492G>T
c.582G>T (p.Leu194=)
1g.15445686C>ACA338567855CTRCc.729C>A (p.Cys243Ter)
c.*183C>A (n.*183C>A)
n.493C>A
c.583C>A (p.Gln195Lys)
1g.15445686C>GCA338567856CTRCc.729C>G (p.Cys243Trp)
c.*183C>G (n.*183C>G)
n.493C>G
c.583C>G (p.Gln195Glu)
1g.15445686C>TCA416207394CTRCc.729C>T (p.Cys243=)
c.*183C>T (n.*183C>T)
n.493C>T
c.583C>T (p.Gln195Ter)
1g.15445687A=CA1155328658CTRCc.730A= (p.Asn244=)
c.*184A= (n.*184A=)
n.494A=
c.584A= (p.Gln195=)
1g.15445687A>CCA338567857CTRCc.730A>C (p.Asn244His)
c.*184A>C (n.*184A>C)
n.494A>C
c.584A>C (p.Gln195Pro)
 dbSNP gnomAD v4
1g.15445687A>GCA338567858CTRCc.730A>G (p.Asn244Asp)
c.*184A>G (n.*184A>G)
n.494A>G
c.584A>G (p.Gln195Arg)
1g.15445687A>TCA338567859CTRCc.730A>T (p.Asn244Tyr)
c.*184A>T (n.*184A>T)
n.494A>T
c.584A>T (p.Gln195Leu)
1g.15445687_15445711delinsAACACCCGCAAGAAGCCGGTAGTCTCA1155328657CTRCc.730_754delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Asn244=)
c.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT (n.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT)
n.494_518delinsAACACCCGCAAGAAGCCGGTAGTCT
c.584_608delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Gln195=)
1g.15445688A=CA1155328666CTRCc.731A= (p.Asn244=)
c.*185A= (n.*185A=)
n.495A=
c.585A= (p.Gln195=)
1g.15445688A>CCA338567860CTRCc.731A>C (p.Asn244Thr)
c.*185A>C (n.*185A>C)
n.495A>C
c.585A>C (p.Gln195His)
1g.15445688A>GCA338567861CTRCc.731A>G (p.Asn244Ser)
c.*185A>G (n.*185A>G)
n.495A>G
c.585A>G (p.Gln195=)
 gnomAD v4
1g.15445688A>TCA613455CTRCc.731A>T (p.Asn244Ile)
c.*185A>T (n.*185A>T)
n.495A>T
c.585A>T (p.Gln195His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445688_15445718delinsACACCCGCAAGAAGCCGGTAGTCTACACCCGCA1144232719CTRCc.731_761delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Asn244=)
c.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (n.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG)
n.495_525delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG
c.585_615delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Gln195=)
1g.15445695_15445718delCA345648CTRCc.738_761del (p.Lys247_Arg254del)
c.*192_*215del (n.*192_*215del)
n.502_525del
c.592_615del (p.Gln198_Pro205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445689C>ACA338567862CTRCc.732C>A (p.Asn244Lys)
c.*186C>A (n.*186C>A)
n.496C>A
c.586C>A (p.His196Asn)
1g.15445689C>GCA338567863CTRCc.732C>G (p.Asn244Lys)
c.*186C>G (n.*186C>G)
n.496C>G
c.586C>G (p.His196Asp)
1g.15445689C>TCA416207395CTRCc.732C>T (p.Asn244=)
c.*186C>T (n.*186C>T)
n.496C>T
c.586C>T (p.His196Tyr)
1g.15445690A>CCA338567864CTRCc.733A>C (p.Thr245Pro)
c.*187A>C (n.*187A>C)
n.497A>C
c.587A>C (p.His196Pro)
1g.15445690A>GCA338567865CTRCc.733A>G (p.Thr245Ala)
c.*187A>G (n.*187A>G)
n.497A>G
c.587A>G (p.His196Arg)
1g.15445690A>TCA338567866CTRCc.733A>T (p.Thr245Ser)
c.*187A>T (n.*187A>T)
n.497A>T
c.587A>T (p.His196Leu)
1g.15445691C>ACA338567867CTRCc.734C>A (p.Thr245Asn)
c.*188C>A (n.*188C>A)
n.498C>A
c.588C>A (p.His196Gln)
 gnomAD v4
1g.15445691C=CA1155328673CTRCc.734C= (p.Thr245=)
c.*188C= (n.*188C=)
n.498C=
c.588C= (p.His196=)
1g.15445691C>GCA338567868CTRCc.734C>G (p.Thr245Ser)
c.*188C>G (n.*188C>G)
n.498C>G
c.588C>G (p.His196Gln)
1g.15445691C>TCA338567869CTRCc.734C>T (p.Thr245Ile)
c.*188C>T (n.*188C>T)
n.498C>T
c.588C>T (p.His196=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.15445692C>ACA416207398CTRCc.735C>A (p.Thr245=)
c.*189C>A (n.*189C>A)
n.499C>A
c.589C>A (p.Pro197Thr)
1g.15445692C>GCA416207397CTRCc.735C>G (p.Thr245=)
c.*189C>G (n.*189C>G)
n.499C>G
c.589C>G (p.Pro197Ala)
1g.15445692C>TCA416207396CTRCc.735C>T (p.Thr245=)
c.*189C>T (n.*189C>T)
n.499C>T
c.589C>T (p.Pro197Ser)
 ClinVar
1g.15445693C>ACA338567870CTRCc.736C>A (p.Arg246Ser)
c.*190C>A (n.*190C>A)
n.500C>A
c.590C>A (p.Pro197Gln)
1g.15445693C=CA1143415653CTRCc.736C= (p.Arg246=)
c.*190C= (n.*190C=)
n.500C=
c.590C= (p.Pro197=)
1g.15445693C>GCA338567871CTRCc.736C>G (p.Arg246Gly)
c.*190C>G (n.*190C>G)
n.500C>G
c.590C>G (p.Pro197Arg)
 ClinVar dbSNP gnomAD v4
1g.15445693C>TCA613456CTRCc.736C>T (p.Arg246Cys)
c.*190C>T (n.*190C>T)
n.500C>T
c.590C>T (p.Pro197Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445694G>ACA613457CTRCc.737G>A (p.Arg246His)
c.*191G>A (n.*191G>A)
n.501G>A
c.591G>A (p.Pro197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445694G>CCA338567872CTRCc.737G>C (p.Arg246Pro)
c.*191G>C (n.*191G>C)
n.501G>C
c.591G>C (p.Pro197=)
 dbSNP
1g.15445694G=CA1142207989CTRCc.737G= (p.Arg246=)
c.*191G= (n.*191G=)
n.501G=
c.591G= (p.Pro197=)
1g.15445694G>TCA613458CTRCc.737G>T (p.Arg246Leu)
c.*191G>T (n.*191G>T)
n.501G>T
c.591G>T (p.Pro197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445695C>ACA416207399CTRCc.738C>A (p.Arg246=)
c.*192C>A (n.*192C>A)
n.502C>A
c.592C>A (p.Gln198Lys)
 ClinVar
1g.15445695C>GCA416207400CTRCc.738C>G (p.Arg246=)
c.*192C>G (n.*192C>G)
n.502C>G
c.592C>G (p.Gln198Glu)
1g.15445695C>TCA416207401CTRCc.738C>T (p.Arg246=)
c.*192C>T (n.*192C>T)
n.502C>T
c.592C>T (p.Gln198Ter)
1g.15445696A=CA1155328694CTRCc.739A= (p.Lys247=)
c.*193A= (n.*193A=)
n.503A=
c.593A= (p.Gln198=)
1g.15445696A>CCA338567874CTRCc.739A>C (p.Lys247Gln)
c.*193A>C (n.*193A>C)
n.503A>C
c.593A>C (p.Gln198Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.15445696A>GCA338567873CTRCc.739A>G (p.Lys247Glu)
c.*193A>G (n.*193A>G)
n.503A>G
c.593A>G (p.Gln198Arg)
 gnomAD v4
1g.15445696A>TCA338567875CTRCc.739A>T (p.Lys247Ter)
c.*193A>T (n.*193A>T)
n.503A>T
c.593A>T (p.Gln198Leu)
1g.15445697A=CA1155328697CTRCc.740A= (p.Lys247=)
c.*194A= (n.*194A=)
n.504A=
c.594A= (p.Gln198=)
1g.15445697A>CCA338567876CTRCc.740A>C (p.Lys247Thr)
c.*194A>C (n.*194A>C)
n.504A>C
c.594A>C (p.Gln198His)
1g.15445697A>GCA18253809CTRCc.740A>G (p.Lys247Arg)
c.*194A>G (n.*194A>G)
n.504A>G
c.594A>G (p.Gln198=)
 dbSNP
1g.15445697A>TCA338567877CTRCc.740A>T (p.Lys247Met)
c.*194A>T (n.*194A>T)
n.504A>T
c.594A>T (p.Gln198His)
1g.15445698G>ACA416207403CTRCc.741G>A (p.Lys247=)
c.*195G>A (n.*195G>A)
n.505G>A
c.595G>A (p.Glu199Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.15445698G>CCA338567878CTRCc.741G>C (p.Lys247Asn)
c.*195G>C (n.*195G>C)
n.505G>C
c.595G>C (p.Glu199Gln)
1g.15445698G=CA1155328701CTRCc.741G= (p.Lys247=)
c.*195G= (n.*195G=)
n.505G=
c.595G= (p.Glu199=)
1g.15445698G>TCA338567879CTRCc.741G>T (p.Lys247Asn)
c.*195G>T (n.*195G>T)
n.505G>T
c.595G>T (p.Glu199Ter)
1g.15445699A>CCA338567880CTRCc.742A>C (p.Lys248Gln)
c.*196A>C (n.*196A>C)
n.506A>C
c.596A>C (p.Glu199Ala)
1g.15445699A>GCA338567881CTRCc.742A>G (p.Lys248Glu)
c.*196A>G (n.*196A>G)
n.506A>G
c.596A>G (p.Glu199Gly)
 ClinVar
1g.15445699A>TCA338567882CTRCc.742A>T (p.Lys248Ter)
c.*196A>T (n.*196A>T)
n.506A>T
c.596A>T (p.Glu199Val)
1g.15445700A>CCA338567883CTRCc.743A>C (p.Lys248Thr)
c.*197A>C (n.*197A>C)
n.507A>C
c.597A>C (p.Glu199Asp)
1g.15445700A>GCA338567884CTRCc.743A>G (p.Lys248Arg)
c.*197A>G (n.*197A>G)
n.507A>G
c.597A>G (p.Glu199=)
 gnomAD v4
1g.15445700A>TCA338567885CTRCc.743A>T (p.Lys248Met)
c.*197A>T (n.*197A>T)
n.507A>T
c.597A>T (p.Glu199Asp)
1g.15445701G>ACA416207406CTRCc.744G>A (p.Lys248=)
c.*198G>A (n.*198G>A)
n.508G>A
c.598G>A (p.Ala200Thr)
 ClinVar gnomAD v4
1g.15445701G>CCA338567886CTRCc.744G>C (p.Lys248Asn)
c.*198G>C (n.*198G>C)
n.508G>C
c.598G>C (p.Ala200Pro)
1g.15445701G>TCA338567887CTRCc.744G>T (p.Lys248Asn)
c.*198G>T (n.*198G>T)
n.508G>T
c.598G>T (p.Ala200Ser)
1g.15445702C>ACA338567890CTRCc.745C>A (p.Pro249Thr)
c.*199C>A (n.*199C>A)
n.509C>A
c.599C>A (p.Ala200Asp)
1g.15445702C>GCA338567889CTRCc.745C>G (p.Pro249Ala)
c.*199C>G (n.*199C>G)
n.509C>G
c.599C>G (p.Ala200Gly)
1g.15445702C>TCA338567888CTRCc.745C>T (p.Pro249Ser)
c.*199C>T (n.*199C>T)
n.509C>T
c.599C>T (p.Ala200Val)
 ClinVar gnomAD v4
1g.15445703C>ACA338567891CTRCc.746C>A (p.Pro249Gln)
c.*200C>A (n.*200C>A)
n.510C>A
c.600C>A (p.Ala200=)
1g.15445703C=CA1141874374CTRCc.746C= (p.Pro249=)
c.*200C= (n.*200C=)
n.510C=
c.600C= (p.Ala200=)
1g.15445703C>GCA338567892CTRCc.746C>G (p.Pro249Arg)
c.*200C>G (n.*200C>G)
n.510C>G
c.600C>G (p.Ala200=)
 gnomAD v4
1g.15445703C>TCA613459CTRCc.746C>T (p.Pro249Leu)
c.*200C>T (n.*200C>T)
n.510C>T
c.600C>T (p.Ala200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445704G>ACA613460CTRCc.747G>A (p.Pro249=)
c.*201G>A (n.*201G>A)
n.511G>A
c.601G>A (p.Gly201Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445704G>CCA416207410CTRCc.747G>C (p.Pro249=)
c.*201G>C (n.*201G>C)
n.511G>C
c.601G>C (p.Gly201Arg)
1g.15445704G=CA1142342038CTRCc.747G= (p.Pro249=)
c.*201G= (n.*201G=)
n.511G=
c.601G= (p.Gly201=)
1g.15445704G>TCA416207412CTRCc.747G>T (p.Pro249=)
c.*201G>T (n.*201G>T)
n.511G>T
c.601G>T (p.Gly201Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445705G>ACA338567893CTRCc.748G>A (p.Val250Ile)
c.*202G>A (n.*202G>A)
n.512G>A
c.602G>A (p.Gly201Asp)
1g.15445705G>CCA338567894CTRCc.748G>C (p.Val250Leu)
c.*202G>C (n.*202G>C)
n.512G>C
c.602G>C (p.Gly201Ala)
1g.15445705G>TCA338567895CTRCc.748G>T (p.Val250Leu)
c.*202G>T (n.*202G>T)
n.512G>T
c.602G>T (p.Gly201Val)
 COSMIC
1g.15445706T>ACA338567896CTRCc.749T>A (p.Val250Glu)
c.*203T>A (n.*203T>A)
n.513T>A
c.603T>A (p.Gly201=)
1g.15445706T>CCA338567897CTRCc.749T>C (p.Val250Ala)
c.*203T>C (n.*203T>C)
n.513T>C
c.603T>C (p.Gly201=)
1g.15445706T>GCA338567898CTRCc.749T>G (p.Val250Gly)
c.*203T>G (n.*203T>G)
n.513T>G
c.603T>G (p.Gly201=)

Number of alleles fetched