Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919620A>CCA397460448MC1Rc.362A>C (p.Asp121Ala)
16g.89919620A>GCA397460450MC1Rc.362A>G (p.Asp121Gly)
gnomAD v4
16g.89919620A>TCA397460451MC1Rc.362A>T (p.Asp121Val)
16g.89919621C>ACA397460453MC1Rc.363C>A (p.Asp121Glu)
16g.89919621C=CA2242009486MC1Rc.363C= (p.Asp121=)
16g.89919621C>GCA8255572MC1Rc.363C>G (p.Asp121Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919621C>TCA497380523MC1Rc.363C>T (p.Asp121=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919622G>ACA8255573MC1Rc.364G>A (p.Val122Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919622G>CCA397460455MC1Rc.364G>C (p.Val122Leu)
16g.89919622G=CA2242009487MC1Rc.364G= (p.Val122=)
16g.89919622G>TCA397460457MC1Rc.364G>T (p.Val122Leu)
16g.89919623T>ACA397460459MC1Rc.365T>A (p.Val122Glu)
16g.89919623T>CCA397460460MC1Rc.365T>C (p.Val122Ala)
gnomAD v4
16g.89919623T>GCA397460461MC1Rc.365T>G (p.Val122Gly)
16g.89919624G>ACA8255574MC1Rc.366G>A (p.Val122=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919624G>CCA497380537MC1Rc.366G>C (p.Val122=)
ClinVar
16g.89919624G=CA2242009488MC1Rc.366G= (p.Val122=)
16g.89919624G>TCA497380541MC1Rc.366G>T (p.Val122=)
gnomAD v4
16g.89919625A>CCA397460464MC1Rc.367A>C (p.Ile123Leu)
gnomAD v4
16g.89919625A>GCA397460467MC1Rc.367A>G (p.Ile123Val)
16g.89919625A>TCA397460465MC1Rc.367A>T (p.Ile123Phe)
16g.89919626T>ACA397460472MC1Rc.368T>A (p.Ile123Asn)
16g.89919626T>CCA397460474MC1Rc.368T>C (p.Ile123Thr)
16g.89919626T>GCA397460475MC1Rc.368T>G (p.Ile123Ser)
gnomAD v4
16g.89919627C>ACA497380545MC1Rc.369C>A (p.Ile123=)
gnomAD v4
16g.89919627C>GCA397460477MC1Rc.369C>G (p.Ile123Met)
16g.89919627C>TCA497380549MC1Rc.369C>T (p.Ile123=)
gnomAD v4
16g.89919628_89919629delCA2808106039MC1Rc.370_371del (p.Thr124LeufsTer?)
16g.89919628A=CA2242009489MC1Rc.370A= (p.Thr124=)
16g.89919628A>CCA397460479MC1Rc.370A>C (p.Thr124Pro)
dbSNP
16g.89919628A>GCA397460481MC1Rc.370A>G (p.Thr124Ala)
16g.89919628A>TCA397460480MC1Rc.370A>T (p.Thr124Ser)
16g.89919628_89919629delinsACCA2242009490MC1Rc.370_371delinsAC (p.Thr124=)
16g.89919629C>ACA397460482MC1Rc.371C>A (p.Thr124Asn)
16g.89919629C=CA2242009492MC1Rc.371C= (p.Thr124=)
16g.89919629C>GCA397460484MC1Rc.371C>G (p.Thr124Ser)
16g.89919629C>TCA397460485MC1Rc.371C>T (p.Thr124Ile)
dbSNP gnomAD v4
16g.89919630delCA2242009491MC1Rc.372del (p.Cys125AlafsTer?)
ClinVar dbSNP
16g.89919630C>ACA497380556MC1Rc.372C>A (p.Thr124=)
COSMIC
16g.89919630C=CA2242009493MC1Rc.372C= (p.Thr124=)
16g.89919630C>GCA497380557MC1Rc.372C>G (p.Thr124=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919630C>TCA497380559MC1Rc.372C>T (p.Thr124=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919631T>ACA397460487MC1Rc.373T>A (p.Cys125Ser)
16g.89919631T>CCA397460488MC1Rc.373T>C (p.Cys125Arg)
dbSNP gnomAD v2 gnomAD v4
16g.89919631T>GCA397460490MC1Rc.373T>G (p.Cys125Gly)
dbSNP gnomAD v3 gnomAD v4
16g.89919631T=CA2242009494MC1Rc.373T= (p.Cys125=)
16g.89919632G>ACA397460492MC1Rc.374G>A (p.Cys125Tyr)
16g.89919632G>CCA397460493MC1Rc.374G>C (p.Cys125Ser)
16g.89919632G>TCA397460495MC1Rc.374G>T (p.Cys125Phe)
gnomAD v4
16g.89919633C>ACA397460500MC1Rc.375C>A (p.Cys125Ter)
16g.89919633C=CA2242009495MC1Rc.375C= (p.Cys125=)
16g.89919633C>GCA397460502MC1Rc.375C>G (p.Cys125Trp)
16g.89919633C>TCA497380563MC1Rc.375C>T (p.Cys125=)
dbSNP gnomAD v4
16g.89919634A>CCA397460504MC1Rc.376A>C (p.Ser126Arg)
16g.89919634A>GCA397460505MC1Rc.376A>G (p.Ser126Gly)
16g.89919634A>TCA397460503MC1Rc.376A>T (p.Ser126Cys)
16g.89919635G>ACA397460507MC1Rc.377G>A (p.Ser126Asn)
dbSNP
16g.89919635G>CCA397460506MC1Rc.377G>C (p.Ser126Thr)
gnomAD v4
16g.89919635G=CA2242009496MC1Rc.377G= (p.Ser126=)
16g.89919635G>TCA397460508MC1Rc.377G>T (p.Ser126Ile)
gnomAD v4
16g.89919636C>ACA397460510MC1Rc.378C>A (p.Ser126Arg)
gnomAD v4
16g.89919636C=CA2242009497MC1Rc.378C= (p.Ser126=)
16g.89919636C>GCA397460512MC1Rc.378C>G (p.Ser126Arg)
16g.89919636C>TCA497380567MC1Rc.378C>T (p.Ser126=)
dbSNP gnomAD v2 gnomAD v4
16g.89919637T>ACA397460514MC1Rc.379T>A (p.Ser127Thr)
16g.89919637T>CCA397460515MC1Rc.379T>C (p.Ser127Pro)
16g.89919637T>GCA397460517MC1Rc.379T>G (p.Ser127Ala)
16g.89919638C>ACA397460520MC1Rc.380C>A (p.Ser127Tyr)
16g.89919638C=CA2242009498MC1Rc.380C= (p.Ser127=)
16g.89919638C>GCA397460522MC1Rc.380C>G (p.Ser127Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919638C>TCA286607464MC1Rc.380C>T (p.Ser127Phe)
dbSNP gnomAD v2 gnomAD v4
16g.89919639C>ACA497380579MC1Rc.381C>A (p.Ser127=)
gnomAD v4
16g.89919639C>GCA497380576MC1Rc.381C>G (p.Ser127=)
16g.89919639C>TCA497380578MC1Rc.381C>T (p.Ser127=)
16g.89919640A=CA2242009499MC1Rc.382A= (p.Met128=)
16g.89919640A>CCA397460524MC1Rc.382A>C (p.Met128Leu)
16g.89919640A>GCA397460525MC1Rc.382A>G (p.Met128Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919640A>TCA397460527MC1Rc.382A>T (p.Met128Leu)
16g.89919641T>ACA397460529MC1Rc.383T>A (p.Met128Lys)
dbSNP gnomAD v2 gnomAD v4
16g.89919641T>CCA8255575MC1Rc.383T>C (p.Met128Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919641T>GCA397460531MC1Rc.383T>G (p.Met128Arg)
16g.89919641T=CA2242009500MC1Rc.383T= (p.Met128=)
16g.89919642G>ACA397460536MC1Rc.384G>A (p.Met128Ile)
16g.89919642G>CCA397460535MC1Rc.384G>C (p.Met128Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89919642G=CA2242009501MC1Rc.384G= (p.Met128=)
16g.89919642G>TCA397460533MC1Rc.384G>T (p.Met128Ile)
gnomAD v4
16g.89919643C>ACA397460538MC1Rc.385C>A (p.Leu129Met)
16g.89919643C=CA2242009502MC1Rc.385C= (p.Leu129=)
16g.89919643C>GCA397460539MC1Rc.385C>G (p.Leu129Val)
16g.89919643C>TCA497380589MC1Rc.385C>T (p.Leu129=)
dbSNP gnomAD v4
16g.89919644T>ACA397460542MC1Rc.386T>A (p.Leu129Gln)
16g.89919644T>CCA397460543MC1Rc.386T>C (p.Leu129Pro)
gnomAD v4
16g.89919644T>GCA397460545MC1Rc.386T>G (p.Leu129Arg)
16g.89919645G>ACA497380592MC1Rc.387G>A (p.Leu129=)
16g.89919645G>CCA497380593MC1Rc.387G>C (p.Leu129=)
16g.89919645G>TCA497380594MC1Rc.387G>T (p.Leu129=)
16g.89919646T>ACA397460546MC1Rc.388T>A (p.Ser130Thr)
16g.89919646T>CCA397460547MC1Rc.388T>C (p.Ser130Pro)
16g.89919646T>GCA397460548MC1Rc.388T>G (p.Ser130Ala)
16g.89919647C>ACA397460549MC1Rc.389C>A (p.Ser130Tyr)
16g.89919647C=CA2242009503MC1Rc.389C= (p.Ser130=)
16g.89919647C>GCA397460550MC1Rc.389C>G (p.Ser130Cys)
ClinVar dbSNP
16g.89919647C>TCA286607465MC1Rc.389C>T (p.Ser130Phe)
dbSNP
16g.89919648C>ACA497380596MC1Rc.390C>A (p.Ser130=)
16g.89919648C=CA2242009504MC1Rc.390C= (p.Ser130=)
16g.89919648C>GCA497380597MC1Rc.390C>G (p.Ser130=)
16g.89919648C>TCA497380598MC1Rc.390C>T (p.Ser130=)
dbSNP gnomAD v3 gnomAD v4
16g.89919649A=CA2242009505MC1Rc.391A= (p.Ser131=)
16g.89919649A>CCA397460552MC1Rc.391A>C (p.Ser131Arg)
16g.89919649A>GCA397460553MC1Rc.391A>G (p.Ser131Gly)
dbSNP gnomAD v2 gnomAD v4
16g.89919649A>TCA397460554MC1Rc.391A>T (p.Ser131Cys)
16g.89919650G>ACA8255576MC1Rc.392G>A (p.Ser131Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919650G>CCA397460565MC1Rc.392G>C (p.Ser131Thr)
16g.89919650G=CA2242009506MC1Rc.392G= (p.Ser131=)
16g.89919650G>TCA397460556MC1Rc.392G>T (p.Ser131Ile)
gnomAD v4
16g.89919651C>ACA397460567MC1Rc.393C>A (p.Ser131Arg)
gnomAD v4
16g.89919651C>GCA397460569MC1Rc.393C>G (p.Ser131Arg)
16g.89919651C>TCA497380601MC1Rc.393C>T (p.Ser131=)
gnomAD v4
16g.89919652delCA2635065989MC1Rc.394del (p.Leu132SerfsTer25)
gnomAD v4
16g.89919652C>ACA397460572MC1Rc.394C>A (p.Leu132Ile)
gnomAD v4
16g.89919652C=CA2242009507MC1Rc.394C= (p.Leu132=)
16g.89919652C>GCA397460573MC1Rc.394C>G (p.Leu132Val)
16g.89919652C>TCA397460575MC1Rc.394C>T (p.Leu132Phe)
dbSNP gnomAD v2 gnomAD v4
16g.89919653T>ACA397460579MC1Rc.395T>A (p.Leu132His)
16g.89919653T>CCA397460578MC1Rc.395T>C (p.Leu132Pro)
16g.89919653T>GCA397460576MC1Rc.395T>G (p.Leu132Arg)
16g.89919654C>ACA497380606MC1Rc.396C>A (p.Leu132=)
16g.89919654C=CA2242009508MC1Rc.396C= (p.Leu132=)
16g.89919654C>GCA497380607MC1Rc.396C>G (p.Leu132=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919654C>TCA16615041MC1Rc.396C>T (p.Leu132=)
ClinVar dbSNP gnomAD v2
16g.89919655T>ACA397460581MC1Rc.397T>A (p.Cys133Ser)
16g.89919655T>CCA397460582MC1Rc.397T>C (p.Cys133Arg)
16g.89919655T>GCA397460584MC1Rc.397T>G (p.Cys133Gly)
16g.89919656G>ACA397460586MC1Rc.398G>A (p.Cys133Tyr)
gnomAD v4
16g.89919656G>CCA397460590MC1Rc.398G>C (p.Cys133Ser)
16g.89919656G>TCA397460592MC1Rc.398G>T (p.Cys133Phe)
16g.89919657C>ACA397460594MC1Rc.399C>A (p.Cys133Ter)
16g.89919657C=CA2242009509MC1Rc.399C= (p.Cys133=)
16g.89919657C>GCA397460597MC1Rc.399C>G (p.Cys133Trp)
dbSNP gnomAD v3 gnomAD v4
16g.89919657C>TCA8255577MC1Rc.399C>T (p.Cys133=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919658T>ACA397460599MC1Rc.400T>A (p.Phe134Ile)
16g.89919658T>CCA397460600MC1Rc.400T>C (p.Phe134Leu)
16g.89919658T>GCA397460601MC1Rc.400T>G (p.Phe134Val)
16g.89919659T>ACA397460603MC1Rc.401T>A (p.Phe134Tyr)
16g.89919659T>CCA8255578MC1Rc.401T>C (p.Phe134Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919659T>GCA397460605MC1Rc.401T>G (p.Phe134Cys)
16g.89919659T=CA2242009510MC1Rc.401T= (p.Phe134=)
16g.89919660C>ACA397460607MC1Rc.402C>A (p.Phe134Leu)
16g.89919660C=CA2242009511MC1Rc.402C= (p.Phe134=)
16g.89919660C>GCA397460609MC1Rc.402C>G (p.Phe134Leu)
16g.89919660C>TCA497380625MC1Rc.402C>T (p.Phe134=)
dbSNP gnomAD v2 gnomAD v4
16g.89919661C>ACA397460610MC1Rc.403C>A (p.Leu135Met)
16g.89919661C>GCA397460611MC1Rc.403C>G (p.Leu135Val)
16g.89919661C>TCA497380626MC1Rc.403C>T (p.Leu135=)
16g.89919662T>ACA397460613MC1Rc.404T>A (p.Leu135Gln)
16g.89919662T>CCA397460616MC1Rc.404T>C (p.Leu135Pro)
16g.89919662T>GCA397460614MC1Rc.404T>G (p.Leu135Arg)
16g.89919663G>ACA497380627MC1Rc.405G>A (p.Leu135=)
dbSNP gnomAD v3 gnomAD v4
16g.89919663G>CCA497380628MC1Rc.405G>C (p.Leu135=)
16g.89919663G=CA2242009512MC1Rc.405G= (p.Leu135=)
16g.89919663G>TCA497380629MC1Rc.405G>T (p.Leu135=)
gnomAD v4
16g.89919664G>ACA397460618MC1Rc.406G>A (p.Gly136Ser)
16g.89919664G>CCA397460621MC1Rc.406G>C (p.Gly136Arg)
16g.89919664G=CA2242009513MC1Rc.406G= (p.Gly136=)
16g.89919664G>TCA397460619MC1Rc.406G>T (p.Gly136Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919665G>ACA397460623MC1Rc.407G>A (p.Gly136Asp)
16g.89919665G>CCA397460624MC1Rc.407G>C (p.Gly136Ala)
16g.89919665G>TCA397460626MC1Rc.407G>T (p.Gly136Val)
16g.89919666C>ACA497380632MC1Rc.408C>A (p.Gly136=)
16g.89919666C=CA2242009514MC1Rc.408C= (p.Gly136=)
16g.89919666C>GCA497380633MC1Rc.408C>G (p.Gly136=)
16g.89919666C>TCA497380634MC1Rc.408C>T (p.Gly136=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919667G>ACA397460628MC1Rc.409G>A (p.Ala137Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89919667G>CCA397460630MC1Rc.409G>C (p.Ala137Pro)
16g.89919667G=CA2242009515MC1Rc.409G= (p.Ala137=)
16g.89919667G>TCA397460632MC1Rc.409G>T (p.Ala137Ser)
gnomAD v4
16g.89919668C>ACA397460635MC1Rc.410C>A (p.Ala137Asp)
gnomAD v4
16g.89919668C>GCA397460638MC1Rc.410C>G (p.Ala137Gly)
16g.89919668C>TCA397460640MC1Rc.410C>T (p.Ala137Val)
gnomAD v4
16g.89919669delCA2576103996MC1Rc.411del (p.Ile138SerfsTer19)
gnomAD v4
16g.89919669C>ACA497380635MC1Rc.411C>A (p.Ala137=)
dbSNP gnomAD v4
16g.89919669C=CA2242009516MC1Rc.411C= (p.Ala137=)
16g.89919669C>GCA497380636MC1Rc.411C>G (p.Ala137=)
16g.89919669C>TCA497380637MC1Rc.411C>T (p.Ala137=)
dbSNP gnomAD v2 gnomAD v4
16g.89919670A=CA2242009517MC1Rc.412A= (p.Ile138=)
16g.89919670A>CCA397460644MC1Rc.412A>C (p.Ile138Leu)
16g.89919670A>GCA397460646MC1Rc.412A>G (p.Ile138Val)
dbSNP
16g.89919670A>TCA397460647MC1Rc.412A>T (p.Ile138Phe)
gnomAD v4
16g.89919671T>ACA397460652MC1Rc.413T>A (p.Ile138Asn)
16g.89919671T>CCA397460648MC1Rc.413T>C (p.Ile138Thr)
16g.89919671T>GCA397460651MC1Rc.413T>G (p.Ile138Ser)
16g.89919672C>ACA497380642MC1Rc.414C>A (p.Ile138=)
gnomAD v4
16g.89919672C=CA2242009518MC1Rc.414C= (p.Ile138=)
16g.89919672C>GCA397460654MC1Rc.414C>G (p.Ile138Met)
16g.89919672C>TCA8255579MC1Rc.414C>T (p.Ile138=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919673G>ACA8255581MC1Rc.415G>A (p.Ala139Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919673G>CCA8255580MC1Rc.415G>C (p.Ala139Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919673G=CA2242009519MC1Rc.415G= (p.Ala139=)
16g.89919673G>TCA397460661MC1Rc.415G>T (p.Ala139Ser)
ClinVar gnomAD v4
16g.89919674C>ACA397460665MC1Rc.416C>A (p.Ala139Asp)
gnomAD v4
16g.89919674C=CA2242009520MC1Rc.416C= (p.Ala139=)
16g.89919674C>GCA397460667MC1Rc.416C>G (p.Ala139Gly)
ClinVar dbSNP gnomAD v4
16g.89919674C>TCA397460669MC1Rc.416C>T (p.Ala139Val)
dbSNP gnomAD v3 gnomAD v4
16g.89919675C>ACA497380644MC1Rc.417C>A (p.Ala139=)
16g.89919675C=CA2242009521MC1Rc.417C= (p.Ala139=)
16g.89919675C>GCA8255583MC1Rc.417C>G (p.Ala139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919675C>TCA8255582MC1Rc.417C>T (p.Ala139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919676G>ACA8255584MC1Rc.418G>A (p.Val140Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919676G>CCA397460677MC1Rc.418G>C (p.Val140Leu)
16g.89919676G=CA2242009522MC1Rc.418G= (p.Val140=)
16g.89919676G>TCA397460673MC1Rc.418G>T (p.Val140Leu)
gnomAD v4
16g.89919676_89919677insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCACA2741510676MC1Rc.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA (p.Val140delinsAlaValValIleLeuGlyAlaLeuGluValLeuArgProGlnPheProThrGlyAspAsnGlyAlaMet)
16g.89919677T>ACA397460679MC1Rc.419T>A (p.Val140Glu)
16g.89919677T>CCA397460683MC1Rc.419T>C (p.Val140Ala)
16g.89919677T>GCA397460685MC1Rc.419T>G (p.Val140Gly)
16g.89919678G>ACA497380648MC1Rc.420G>A (p.Val140=)
16g.89919678G>CCA497380649MC1Rc.420G>C (p.Val140=)
16g.89919678G>TCA497380650MC1Rc.420G>T (p.Val140=)
16g.89919679G>ACA397460687MC1Rc.421G>A (p.Asp141Asn)
16g.89919679G>CCA397460688MC1Rc.421G>C (p.Asp141His)
16g.89919679G=CA2242009523MC1Rc.421G= (p.Asp141=)
16g.89919679G>TCA397460690MC1Rc.421G>T (p.Asp141Tyr)
dbSNP gnomAD v4
16g.89919680A=CA2242009524MC1Rc.422A= (p.Asp141=)
16g.89919680A>CCA397460692MC1Rc.422A>C (p.Asp141Ala)
16g.89919680A>GCA397460694MC1Rc.422A>G (p.Asp141Gly)
gnomAD v4
16g.89919680A>TCA397460696MC1Rc.422A>T (p.Asp141Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919681C>ACA397460699MC1Rc.423C>A (p.Asp141Glu)
gnomAD v4
16g.89919681C=CA2242009525MC1Rc.423C= (p.Asp141=)
16g.89919681C>GCA8255585MC1Rc.423C>G (p.Asp141Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919681C>TCA8255586MC1Rc.423C>T (p.Asp141=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919682C>ACA397460713MC1Rc.424C>A (p.Arg142Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919682C=CA2242009526MC1Rc.424C= (p.Arg142=)
16g.89919682C>GCA8255587MC1Rc.424C>G (p.Arg142Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919682C>TCA8255588MC1Rc.424C>T (p.Arg142Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919683G>ACA8255589MC1Rc.425G>A (p.Arg142His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919683G>CCA397460717MC1Rc.425G>C (p.Arg142Pro)
16g.89919683G=CA2242009527MC1Rc.425G= (p.Arg142=)
16g.89919683G>TCA397460720MC1Rc.425G>T (p.Arg142Leu)
gnomAD v4
16g.89919684C>ACA497380660MC1Rc.426C>A (p.Arg142=)
16g.89919684C=CA2242009528MC1Rc.426C= (p.Arg142=)
16g.89919684C>GCA8255590MC1Rc.426C>G (p.Arg142=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919684C>TCA497380666MC1Rc.426C>T (p.Arg142=)
16g.89919684_89919685insCACCCCCAAACACACCCAACA2808106065MC1Rc.426_427insCACCCCCAAACACACCCAA (p.Tyr143HisfsTer?)
16g.89919685T>ACA397460724MC1Rc.427T>A (p.Tyr143Asn)
16g.89919685T>CCA397460726MC1Rc.427T>C (p.Tyr143His)
16g.89919685T>GCA397460729MC1Rc.427T>G (p.Tyr143Asp)
gnomAD v4
16g.89919686A=CA2242009529MC1Rc.428A= (p.Tyr143=)
16g.89919686A>CCA397460730MC1Rc.428A>C (p.Tyr143Ser)
16g.89919686A>GCA397460731MC1Rc.428A>G (p.Tyr143Cys)
dbSNP gnomAD v2
16g.89919686A>TCA397460732MC1Rc.428A>T (p.Tyr143Phe)
16g.89919687C>ACA397460734MC1Rc.429C>A (p.Tyr143Ter)
16g.89919687C=CA2242009530MC1Rc.429C= (p.Tyr143=)
16g.89919687C>GCA397460735MC1Rc.429C>G (p.Tyr143Ter)
16g.89919687C>TCA497380673MC1Rc.429C>T (p.Tyr143=)
dbSNP gnomAD v4
16g.89919688A=CA2242009531MC1Rc.430A= (p.Ile144=)
16g.89919688A>CCA397460741MC1Rc.430A>C (p.Ile144Leu)
16g.89919688A>GCA397460738MC1Rc.430A>G (p.Ile144Val)
dbSNP gnomAD v2 gnomAD v4
16g.89919688A>TCA397460736MC1Rc.430A>T (p.Ile144Phe)
16g.89919688_89919690delinsATCCA2242009532MC1Rc.430_432delinsATC (p.Ile144=)
16g.89919689T>ACA397460744MC1Rc.431T>A (p.Ile144Asn)
16g.89919689T>CCA397460748MC1Rc.431T>C (p.Ile144Thr)
16g.89919689T>GCA397460746MC1Rc.431T>G (p.Ile144Ser)
16g.89919691_89919692delCA2242009533MC1Rc.433_434del (p.Ser145HisfsTer?)
dbSNP gnomAD v4
16g.89919690C>ACA497380682MC1Rc.432C>A (p.Ile144=)
gnomAD v4
16g.89919690C=CA2242009534MC1Rc.432C= (p.Ile144=)
16g.89919690C>GCA397460750MC1Rc.432C>G (p.Ile144Met)
16g.89919690C>TCA497380680MC1Rc.432C>T (p.Ile144=)
dbSNP gnomAD v2 gnomAD v4
16g.89919691T>ACA397460757MC1Rc.433T>A (p.Ser145Thr)
16g.89919691T>CCA397460752MC1Rc.433T>C (p.Ser145Pro)
16g.89919691T>GCA397460755MC1Rc.433T>G (p.Ser145Ala)
16g.89919691T=CA2242009535MC1Rc.433T= (p.Ser145=)
16g.89919692C>ACA397460760MC1Rc.434C>A (p.Ser145Tyr)
gnomAD v4
16g.89919692C=CA2242009537MC1Rc.434C= (p.Ser145=)
16g.89919692C>GCA397460763MC1Rc.434C>G (p.Ser145Cys)
gnomAD v4
16g.89919692C>TCA397460765MC1Rc.434C>T (p.Ser145Phe)
dbSNP gnomAD v4
16g.89919693dupCA2242009536MC1Rc.435dup (p.Ile146HisfsTer?)
dbSNP gnomAD v4
16g.89919692_89919695delinsCCATCA2242009538MC1Rc.434_437delinsCCAT (p.Ser145=)
16g.89919693C>ACA497380688MC1Rc.435C>A (p.Ser145=)
gnomAD v4
16g.89919693C=CA2242009539MC1Rc.435C= (p.Ser145=)
16g.89919693C>GCA497380689MC1Rc.435C>G (p.Ser145=)
16g.89919693C>TCA286607468MC1Rc.435C>T (p.Ser145=)
dbSNP gnomAD v4
16g.89919694_89919696delCA980491112MC1Rc.436_438del (p.Ile146del)
dbSNP gnomAD v3 gnomAD v4
16g.89919694A>CCA397460770MC1Rc.436A>C (p.Ile146Leu)
gnomAD v4
16g.89919694A>GCA397460773MC1Rc.436A>G (p.Ile146Val)
gnomAD v4
16g.89919694A>TCA397460775MC1Rc.436A>T (p.Ile146Phe)
16g.89919694_89919697delinsATCTCA2242009540MC1Rc.436_439delinsATCT (p.Ile146=)
16g.89919695T>ACA397460778MC1Rc.437T>A (p.Ile146Asn)
16g.89919695T>CCA397460781MC1Rc.437T>C (p.Ile146Thr)
16g.89919695T>GCA397460783MC1Rc.437T>G (p.Ile146Ser)
16g.89919695_89919696delinsTCCA2242009541MC1Rc.437_438delinsTC (p.Ile146=)
16g.89919698_89919700delCA624455295MC1Rc.440_442del (p.Phe147del)
ClinVar dbSNP gnomAD v2
16g.89919696delCA624455297MC1Rc.438del (p.Phe147SerfsTer10)
dbSNP gnomAD v2 gnomAD v4
16g.89919696C>ACA497380693MC1Rc.438C>A (p.Ile146=)
gnomAD v4
16g.89919696C=CA2242009542MC1Rc.438C= (p.Ile146=)
16g.89919696C>GCA8255591MC1Rc.438C>G (p.Ile146Met)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919696C>TCA497380696MC1Rc.438C>T (p.Ile146=)
ClinVar
16g.89919697T>ACA397460791MC1Rc.439T>A (p.Phe147Ile)
gnomAD v4
16g.89919697T>CCA397460786MC1Rc.439T>C (p.Phe147Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919697T>GCA397460789MC1Rc.439T>G (p.Phe147Val)
gnomAD v4
16g.89919697T=CA2242009543MC1Rc.439T= (p.Phe147=)
16g.89919698T>ACA397460793MC1Rc.440T>A (p.Phe147Tyr)
16g.89919698T>CCA397460794MC1Rc.440T>C (p.Phe147Ser)
dbSNP gnomAD v2 gnomAD v4
16g.89919698T>GCA397460796MC1Rc.440T>G (p.Phe147Cys)
16g.89919698T=CA2242009544MC1Rc.440T= (p.Phe147=)
16g.89919699C>ACA397460799MC1Rc.441C>A (p.Phe147Leu)
16g.89919699C>GCA397460802MC1Rc.441C>G (p.Phe147Leu)
16g.89919699C>TCA497380703MC1Rc.441C>T (p.Phe147=)
16g.89919700T>ACA397460806MC1Rc.442T>A (p.Tyr148Asn)
16g.89919700T>CCA397460808MC1Rc.442T>C (p.Tyr148His)
dbSNP gnomAD v2 gnomAD v4
16g.89919700T>GCA397460811MC1Rc.442T>G (p.Tyr148Asp)
16g.89919700T=CA2242009545MC1Rc.442T= (p.Tyr148=)
16g.89919701A=CA2242009546MC1Rc.443A= (p.Tyr148=)
16g.89919701A>CCA397460814MC1Rc.443A>C (p.Tyr148Ser)
16g.89919701A>GCA397460817MC1Rc.443A>G (p.Tyr148Cys)
dbSNP gnomAD v3 gnomAD v4
16g.89919701A>TCA397460819MC1Rc.443A>T (p.Tyr148Phe)
16g.89919701_89919702insGCA2242009547MC1Rc.443_444insG (p.Tyr148Ter)
dbSNP
16g.89919702C>ACA397460831MC1Rc.444C>A (p.Tyr148Ter)
dbSNP gnomAD v2 gnomAD v4
16g.89919702C=CA2242009548MC1Rc.444C= (p.Tyr148=)
16g.89919702C>GCA397460828MC1Rc.444C>G (p.Tyr148Ter)
16g.89919702C>TCA8255592MC1Rc.444C>T (p.Tyr148=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919703G>ACA8255593MC1Rc.445G>A (p.Ala149Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919703G>CCA397460839MC1Rc.445G>C (p.Ala149Pro)
gnomAD v4
16g.89919703G=CA2242009549MC1Rc.445G= (p.Ala149=)
16g.89919703G>TCA397460841MC1Rc.445G>T (p.Ala149Ser)
gnomAD v4
16g.89919704C>ACA397460843MC1Rc.446C>A (p.Ala149Glu)
gnomAD v4
16g.89919704C=CA2242009550MC1Rc.446C= (p.Ala149=)
16g.89919704C>GCA397460844MC1Rc.446C>G (p.Ala149Gly)
16g.89919704C>TCA397460847MC1Rc.446C>T (p.Ala149Val)
dbSNP gnomAD v3 gnomAD v4
16g.89919705A=CA2242009551MC1Rc.447A= (p.Ala149=)
16g.89919705A>CCA497380721MC1Rc.447A>C (p.Ala149=)
dbSNP
16g.89919705A>GCA8255594MC1Rc.447A>G (p.Ala149=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919705A>TCA497380722MC1Rc.447A>T (p.Ala149=)
16g.89919706C>ACA397460850MC1Rc.448C>A (p.Leu150Met)
16g.89919706C>GCA397460852MC1Rc.448C>G (p.Leu150Val)
gnomAD v4
16g.89919706C>TCA497380723MC1Rc.448C>T (p.Leu150=)
16g.89919707T>ACA397460855MC1Rc.449T>A (p.Leu150Gln)
gnomAD v4
16g.89919707T>CCA397460856MC1Rc.449T>C (p.Leu150Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89919707T>GCA397460859MC1Rc.449T>G (p.Leu150Arg)
16g.89919707T=CA2242009552MC1Rc.449T= (p.Leu150=)
16g.89919708G>ACA497380728MC1Rc.450G>A (p.Leu150=)
16g.89919708G>CCA497380729MC1Rc.450G>C (p.Leu150=)
ClinVar dbSNP
16g.89919708G=CA2242009553MC1Rc.450G= (p.Leu150=)
16g.89919708G>TCA497380730MC1Rc.450G>T (p.Leu150=)
dbSNP
16g.89919709C>ACA286607471MC1Rc.451C>A (p.Arg151Ser)
dbSNP gnomAD v4
16g.89919709C=CA2242009554MC1Rc.451C= (p.Arg151=)
16g.89919709C>GCA286607469MC1Rc.451C>G (p.Arg151Gly)
dbSNP
16g.89919709C>TCA123871MC1Rc.451C>T (p.Arg151Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919710G>ACA8255595MC1Rc.452G>A (p.Arg151His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919710G>CCA397460862MC1Rc.452G>C (p.Arg151Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89919710G=CA2242009555MC1Rc.452G= (p.Arg151=)
16g.89919710G>TCA397460864MC1Rc.452G>T (p.Arg151Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919711C>ACA497380737MC1Rc.453C>A (p.Arg151=)
gnomAD v4
16g.89919711C=CA2242009556MC1Rc.453C= (p.Arg151=)
16g.89919711C>GCA8255596MC1Rc.453C>G (p.Arg151=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919711C>TCA497380736MC1Rc.453C>T (p.Arg151=)
gnomAD v4
16g.89919712T>ACA397460866MC1Rc.454T>A (p.Tyr152Asn)
16g.89919712T>CCA397460867MC1Rc.454T>C (p.Tyr152His)
16g.89919712T>GCA397460868MC1Rc.454T>G (p.Tyr152Asp)
16g.89919713A=CA2242009557MC1Rc.455A= (p.Tyr152=)
16g.89919713A>CCA397460869MC1Rc.455A>C (p.Tyr152Ser)
dbSNP
16g.89919713A>GCA397460871MC1Rc.455A>G (p.Tyr152Cys)
dbSNP
16g.89919713A>TCA397460873MC1Rc.455A>T (p.Tyr152Phe)
16g.89919714C>ACA8255597MC1Rc.456C>A (p.Tyr152Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919714C=CA2242009558MC1Rc.456C= (p.Tyr152=)
16g.89919714C>GCA397460875MC1Rc.456C>G (p.Tyr152Ter)
16g.89919714C>TCA497380743MC1Rc.456C>T (p.Tyr152=)
gnomAD v4
16g.89919715C>ACA397460881MC1Rc.457C>A (p.His153Asn)
gnomAD v4
16g.89919715C>GCA397460879MC1Rc.457C>G (p.His153Asp)
16g.89919715C>TCA397460877MC1Rc.457C>T (p.His153Tyr)
gnomAD v4
16g.89919716A>CCA397460883MC1Rc.458A>C (p.His153Pro)
16g.89919716A>GCA397460886MC1Rc.458A>G (p.His153Arg)
16g.89919716A>TCA397460885MC1Rc.458A>T (p.His153Leu)
16g.89919717C>ACA397460887MC1Rc.459C>A (p.His153Gln)
16g.89919717C=CA2242009559MC1Rc.459C= (p.His153=)
16g.89919717C>GCA397460889MC1Rc.459C>G (p.His153Gln)
16g.89919717C>TCA8255598MC1Rc.459C>T (p.His153=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919718A>CCA397460891MC1Rc.460A>C (p.Ser154Arg)
16g.89919718A>GCA397460893MC1Rc.460A>G (p.Ser154Gly)
gnomAD v4
16g.89919718A>TCA397460895MC1Rc.460A>T (p.Ser154Cys)
16g.89919719G>ACA397460896MC1Rc.461G>A (p.Ser154Asn)
16g.89919719G>CCA397460898MC1Rc.461G>C (p.Ser154Thr)
16g.89919719G>TCA397460899MC1Rc.461G>T (p.Ser154Ile)
ClinVar gnomAD v4
16g.89919720C>ACA397460900MC1Rc.462C>A (p.Ser154Arg)
gnomAD v4
16g.89919720C=CA2242009560MC1Rc.462C= (p.Ser154=)
16g.89919720C>GCA397460901MC1Rc.462C>G (p.Ser154Arg)
16g.89919720C>TCA497380757MC1Rc.462C>T (p.Ser154=)
dbSNP

Number of alleles fetched