Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.14129460delCA2664568579TMEM43c.*91del (n.*91del)
c.61del (p.Ser21ProfsTer9)
c.-45del (n.-45del)
 gnomAD v4
3g.14129460T>ACA351534254TMEM43c.*91T>A (n.*91T>A)
c.61T>A (p.Ser21Thr)
c.-45T>A (n.-45T>A)
3g.14129460T>CCA351534255TMEM43c.*91T>C (n.*91T>C)
c.61T>C (p.Ser21Pro)
c.-45T>C (n.-45T>C)
 gnomAD v4
3g.14129460T>GCA351534256TMEM43c.*91T>G (n.*91T>G)
c.61T>G (p.Ser21Ala)
c.-45T>G (n.-45T>G)
3g.14129461C>ACA351534257TMEM43c.*92C>A (n.*92C>A)
c.62C>A (p.Ser21Tyr)
c.-44C>A (n.-44C>A)
3g.14129461C=CA1346967874TMEM43c.*92C= (n.*92C=)
c.62C= (p.Ser21=)
c.-44C= (n.-44C=)
3g.14129461C>GCA351534258TMEM43c.*92C>G (n.*92C>G)
c.62C>G (p.Ser21Cys)
c.-44C>G (n.-44C>G)
 ClinVar gnomAD v4
3g.14129461C>TCA024726TMEM43c.*92C>T (n.*92C>T)
c.62C>T (p.Ser21Phe)
c.-44C>T (n.-44C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14129462C>ACA432551002TMEM43c.*93C>A (n.*93C>A)
c.63C>A (p.Ser21=)
c.-43C>A (n.-43C>A)
3g.14129462C>GCA432551003TMEM43c.*93C>G (n.*93C>G)
c.63C>G (p.Ser21=)
c.-43C>G (n.-43C>G)
3g.14129462C>TCA432551004TMEM43c.*93C>T (n.*93C>T)
c.63C>T (p.Ser21=)
c.-43C>T (n.-43C>T)
3g.14129463C>ACA351534261TMEM43c.*94C>A (n.*94C>A)
c.64C>A (p.Gln22Lys)
c.-42C>A (n.-42C>A)
3g.14129463C=CA1346967875TMEM43c.*94C= (n.*94C=)
c.64C= (p.Gln22=)
c.-42C= (n.-42C=)
3g.14129463C>GCA351534259TMEM43c.*94C>G (n.*94C>G)
c.64C>G (p.Gln22Glu)
c.-42C>G (n.-42C>G)
3g.14129463C>TCA351534260TMEM43c.*94C>T (n.*94C>T)
c.64C>T (p.Gln22Ter)
c.-42C>T (n.-42C>T)
 ClinVar dbSNP gnomAD v4
3g.14129464A>CCA351534262TMEM43c.*95A>C (n.*95A>C)
c.65A>C (p.Gln22Pro)
c.-41A>C (n.-41A>C)
3g.14129464A>GCA351534263TMEM43c.*95A>G (n.*95A>G)
c.65A>G (p.Gln22Arg)
c.-41A>G (n.-41A>G)
 ClinVar gnomAD v4 COSMIC
3g.14129464A>TCA351534264TMEM43c.*95A>T (n.*95A>T)
c.65A>T (p.Gln22Leu)
c.-41A>T (n.-41A>T)
3g.14129464dupCA658657274TMEM43c.*95dup (n.*95dup)
c.65dup (p.Pro23AlafsTer?)
c.-41dup (n.-41dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14129465G>ACA432551005TMEM43c.*96G>A (n.*96G>A)
c.66G>A (p.Gln22=)
c.-40G>A (n.-40G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.14129465G>CCA351534265TMEM43c.*96G>C (n.*96G>C)
c.66G>C (p.Gln22His)
c.-40G>C (n.-40G>C)
3g.14129465G=CA1346967876TMEM43c.*96G= (n.*96G=)
c.66G= (p.Gln22=)
c.-40G= (n.-40G=)
3g.14129465G>TCA351534266TMEM43c.*96G>T (n.*96G>T)
c.66G>T (p.Gln22His)
c.-40G>T (n.-40G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.14129466C>ACA351534267TMEM43c.*97C>A (n.*97C>A)
c.67C>A (p.Pro23Thr)
c.-39C>A (n.-39C>A)
3g.14129466C>GCA351534268TMEM43c.*97C>G (n.*97C>G)
c.67C>G (p.Pro23Ala)
c.-39C>G (n.-39C>G)
3g.14129466C>TCA351534269TMEM43c.*97C>T (n.*97C>T)
c.67C>T (p.Pro23Ser)
c.-39C>T (n.-39C>T)
 COSMIC
3g.14129467C>ACA351534270TMEM43c.*98C>A (n.*98C>A)
c.68C>A (p.Pro23Gln)
c.-38C>A (n.-38C>A)
3g.14129467C>GCA351534271TMEM43c.*98C>G (n.*98C>G)
c.68C>G (p.Pro23Arg)
c.-38C>G (n.-38C>G)
3g.14129467C>TCA351534272TMEM43c.*98C>T (n.*98C>T)
c.68C>T (p.Pro23Leu)
c.-38C>T (n.-38C>T)
3g.14129468A=CA1346967877TMEM43c.*99A= (n.*99A=)
c.69A= (p.Pro23=)
c.-37A= (n.-37A=)
3g.14129468A>CCA054891TMEM43c.*99A>C (n.*99A>C)
c.69A>C (p.Pro23=)
c.-37A>C (n.-37A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.14129468A>GCA432551006TMEM43c.*99A>G (n.*99A>G)
c.69A>G (p.Pro23=)
c.-37A>G (n.-37A>G)
3g.14129468A>TCA432551007TMEM43c.*99A>T (n.*99A>T)
c.69A>T (p.Pro23=)
c.-37A>T (n.-37A>T)
3g.14129469G>ACA69728555TMEM43c.*100G>A (n.*100G>A)
c.70G>A (p.Gly24Ser)
c.-36G>A (n.-36G>A)
 dbSNP
3g.14129469G>CCA351534273TMEM43c.*100G>C (n.*100G>C)
c.70G>C (p.Gly24Arg)
c.-36G>C (n.-36G>C)
3g.14129469G=CA1346967878TMEM43c.*100G= (n.*100G=)
c.70G= (p.Gly24=)
c.-36G= (n.-36G=)
3g.14129469G>TCA351534274TMEM43c.*100G>T (n.*100G>T)
c.70G>T (p.Gly24Cys)
c.-36G>T (n.-36G>T)
3g.14129470G>ACA351534275TMEM43c.*101G>A (n.*101G>A)
c.71G>A (p.Gly24Asp)
c.-35G>A (n.-35G>A)
 gnomAD v4
3g.14129470G>CCA351534276TMEM43c.*101G>C (n.*101G>C)
c.71G>C (p.Gly24Ala)
c.-35G>C (n.-35G>C)
 gnomAD v4
3g.14129470G>TCA351534277TMEM43c.*101G>T (n.*101G>T)
c.71G>T (p.Gly24Val)
c.-35G>T (n.-35G>T)
3g.14129471C>ACA432551008TMEM43c.*102C>A (n.*102C>A)
c.72C>A (p.Gly24=)
c.-34C>A (n.-34C>A)
3g.14129471C>GCA432551009TMEM43c.*102C>G (n.*102C>G)
c.72C>G (p.Gly24=)
c.-34C>G (n.-34C>G)
3g.14129471C>TCA432551010TMEM43c.*102C>T (n.*102C>T)
c.72C>T (p.Gly24=)
c.-34C>T (n.-34C>T)
3g.14129472T>ACA351534278TMEM43c.*103T>A (n.*103T>A)
c.73T>A (p.Phe25Ile)
c.-33T>A (n.-33T>A)
3g.14129472T>CCA351534279TMEM43c.*103T>C (n.*103T>C)
c.73T>C (p.Phe25Leu)
c.-33T>C (n.-33T>C)
 gnomAD v4
3g.14129472T>GCA351534280TMEM43c.*103T>G (n.*103T>G)
c.73T>G (p.Phe25Val)
c.-33T>G (n.-33T>G)
3g.14129473T>ACA351534283TMEM43c.*104T>A (n.*104T>A)
c.74T>A (p.Phe25Tyr)
c.-32T>A (n.-32T>A)
3g.14129473T>CCA351534281TMEM43c.*104T>C (n.*104T>C)
c.74T>C (p.Phe25Ser)
c.-32T>C (n.-32T>C)
3g.14129473T>GCA351534282TMEM43c.*104T>G (n.*104T>G)
c.74T>G (p.Phe25Cys)
c.-32T>G (n.-32T>G)
3g.14129474C>ACA351534284TMEM43c.*105C>A (n.*105C>A)
c.75C>A (p.Phe25Leu)
c.-31C>A (n.-31C>A)
3g.14129474C>GCA351534285TMEM43c.*105C>G (n.*105C>G)
c.75C>G (p.Phe25Leu)
c.-31C>G (n.-31C>G)
3g.14129474C>TCA432551011TMEM43c.*105C>T (n.*105C>T)
c.75C>T (p.Phe25=)
c.-31C>T (n.-31C>T)
3g.14129475C>ACA351534286TMEM43c.*106C>A (n.*106C>A)
c.76C>A (p.Leu26Met)
c.-30C>A (n.-30C>A)
3g.14129475C=CA1346967879TMEM43c.*106C= (n.*106C=)
c.76C= (p.Leu26=)
c.-30C= (n.-30C=)
3g.14129475C>GCA351534287TMEM43c.*106C>G (n.*106C>G)
c.76C>G (p.Leu26Val)
c.-30C>G (n.-30C>G)
3g.14129475C>TCA055281TMEM43c.*106C>T (n.*106C>T)
c.76C>T (p.Leu26=)
c.-30C>T (n.-30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.14129476T>ACA351534288TMEM43c.*107T>A (n.*107T>A)
c.77T>A (p.Leu26Gln)
c.-29T>A (n.-29T>A)
3g.14129476T>CCA351534290TMEM43c.*107T>C (n.*107T>C)
c.77T>C (p.Leu26Pro)
c.-29T>C (n.-29T>C)
 ClinVar dbSNP
3g.14129476T>GCA351534289TMEM43c.*107T>G (n.*107T>G)
c.77T>G (p.Leu26Arg)
c.-29T>G (n.-29T>G)
3g.14129477G>ACA432551012TMEM43c.*108G>A (n.*108G>A)
c.78G>A (p.Leu26=)
c.-28G>A (n.-28G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14129477G>CCA432551013TMEM43c.*108G>C (n.*108G>C)
c.78G>C (p.Leu26=)
c.-28G>C (n.-28G>C)
3g.14129477G=CA1346967880TMEM43c.*108G= (n.*108G=)
c.78G= (p.Leu26=)
c.-28G= (n.-28G=)
3g.14129477G>TCA432551014TMEM43c.*108G>T (n.*108G>T)
c.78G>T (p.Leu26=)
c.-28G>T (n.-28G>T)
3g.14129478G>ACA351534291TMEM43c.*109G>A (n.*109G>A)
c.79G>A (p.Glu27Lys)
c.-27G>A (n.-27G>A)
3g.14129478G>CCA351534292TMEM43c.*109G>C (n.*109G>C)
c.79G>C (p.Glu27Gln)
c.-27G>C (n.-27G>C)
3g.14129478G>TCA351534293TMEM43c.*109G>T (n.*109G>T)
c.79G>T (p.Glu27Ter)
c.-27G>T (n.-27G>T)
 gnomAD v4
3g.14129479A=CA1346967881TMEM43c.*110A= (n.*110A=)
c.80A= (p.Glu27=)
c.-26A= (n.-26A=)
3g.14129479A>CCA351534294TMEM43c.*110A>C (n.*110A>C)
c.80A>C (p.Glu27Ala)
c.-26A>C (n.-26A>C)
3g.14129479A>GCA055624TMEM43c.*110A>G (n.*110A>G)
c.80A>G (p.Glu27Gly)
c.-26A>G (n.-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.14129479A>TCA351534295TMEM43c.*110A>T (n.*110A>T)
c.80A>T (p.Glu27Val)
c.-26A>T (n.-26A>T)
3g.14129480A=CA1346967882TMEM43c.*111A= (n.*111A=)
c.81A= (p.Glu27=)
c.-25A= (n.-25A=)
3g.14129480A>CCA351534296TMEM43c.*111A>C (n.*111A>C)
c.81A>C (p.Glu27Asp)
c.-25A>C (n.-25A>C)
3g.14129480A>GCA055684TMEM43c.*111A>G (n.*111A>G)
c.81A>G (p.Glu27=)
c.-25A>G (n.-25A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.14129480A>TCA351534297TMEM43c.*111A>T (n.*111A>T)
c.81A>T (p.Glu27Asp)
c.-25A>T (n.-25A>T)
3g.14129481C>ACA432551015TMEM43c.*112C>A (n.*112C>A)
c.82C>A (p.Arg28=)
c.-24C>A (n.-24C>A)
 dbSNP gnomAD v2
3g.14129481C=CA1346967883TMEM43c.*112C= (n.*112C=)
c.82C= (p.Arg28=)
c.-24C= (n.-24C=)
3g.14129481C>GCA351534298TMEM43c.*112C>G (n.*112C>G)
c.82C>G (p.Arg28Gly)
c.-24C>G (n.-24C>G)
3g.14129481C>TCA024766TMEM43c.*112C>T (n.*112C>T)
c.82C>T (p.Arg28Trp)
c.-24C>T (n.-24C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.14129481_14129486delinsCGGCTGCA1346967884TMEM43c.*112_*117delinsCGGCTG (n.*112_*117delinsCGGCTG)
c.82_87delinsCGGCTG (p.Arg28=)
c.-24_-19delinsCGGCTG (n.-24_-19delinsCGGCTG)
3g.14129482G>ACA055775TMEM43c.*113G>A (n.*113G>A)
c.83G>A (p.Arg28Gln)
c.-23G>A (n.-23G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14129482G>CCA351534299TMEM43c.*113G>C (n.*113G>C)
c.83G>C (p.Arg28Pro)
c.-23G>C (n.-23G>C)
 ClinVar dbSNP
3g.14129482G=CA1346967885TMEM43c.*113G= (n.*113G=)
c.83G= (p.Arg28=)
c.-23G= (n.-23G=)
3g.14129482G>TCA351534300TMEM43c.*113G>T (n.*113G>T)
c.83G>T (p.Arg28Leu)
c.-23G>T (n.-23G>T)
3g.14129482_14129486delinsAGGACA024769TMEM43c.*113_*117delinsAGGA (n.*113_*117delinsAGGA)
c.83_87delinsAGGA (p.Arg28GlnfsTer22)
c.-23_-19delinsAGGA (n.-23_-19delinsAGGA)
 ClinVar dbSNP
3g.14129483G>ACA432551016TMEM43c.*114G>A (n.*114G>A)
c.84G>A (p.Arg28=)
c.-22G>A (n.-22G>A)
 COSMIC
3g.14129483G>CCA432551017TMEM43c.*114G>C (n.*114G>C)
c.84G>C (p.Arg28=)
c.-22G>C (n.-22G>C)
3g.14129483G>TCA432551018TMEM43c.*114G>T (n.*114G>T)
c.84G>T (p.Arg28=)
c.-22G>T (n.-22G>T)
3g.14129484C>ACA351534301TMEM43c.*115C>A (n.*115C>A)
c.85C>A (p.Leu29Met)
c.-21C>A (n.-21C>A)
3g.14129484C>GCA351534302TMEM43c.*115C>G (n.*115C>G)
c.85C>G (p.Leu29Val)
c.-21C>G (n.-21C>G)
3g.14129484C>TCA432551019TMEM43c.*115C>T (n.*115C>T)
c.85C>T (p.Leu29=)
c.-21C>T (n.-21C>T)
3g.14129485T>ACA351534303TMEM43c.*116T>A (n.*116T>A)
c.86T>A (p.Leu29Gln)
c.-20T>A (n.-20T>A)
3g.14129485T>CCA351534304TMEM43c.*116T>C (n.*116T>C)
c.86T>C (p.Leu29Pro)
c.-20T>C (n.-20T>C)
 ClinVar dbSNP gnomAD v4
3g.14129485T>GCA351534305TMEM43c.*116T>G (n.*116T>G)
c.86T>G (p.Leu29Arg)
c.-20T>G (n.-20T>G)
3g.14129485T=CA1346967886TMEM43c.*116T= (n.*116T=)
c.86T= (p.Leu29=)
c.-20T= (n.-20T=)
3g.14129486G>ACA432551020TMEM43c.*117G>A (n.*117G>A)
c.87G>A (p.Leu29=)
c.-19G>A (n.-19G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.14129486G>CCA432551022TMEM43c.*117G>C (n.*117G>C)
c.87G>C (p.Leu29=)
c.-19G>C (n.-19G>C)
3g.14129486G=CA1346967887TMEM43c.*117G= (n.*117G=)
c.87G= (p.Leu29=)
c.-19G= (n.-19G=)
3g.14129486G>TCA432551021TMEM43c.*117G>T (n.*117G>T)
c.87G>T (p.Leu29=)
c.-19G>T (n.-19G>T)
3g.14129487A>CCA351534308TMEM43c.*118A>C (n.*118A>C)
c.88A>C (p.Ser30Arg)
c.-18A>C (n.-18A>C)
3g.14129487A>GCA351534307TMEM43c.*118A>G (n.*118A>G)
c.88A>G (p.Ser30Gly)
c.-18A>G (n.-18A>G)
3g.14129487A>TCA351534306TMEM43c.*118A>T (n.*118A>T)
c.88A>T (p.Ser30Cys)
c.-18A>T (n.-18A>T)
3g.14129488G>ACA056198TMEM43c.*119G>A (n.*119G>A)
c.89G>A (p.Ser30Asn)
c.-17G>A (n.-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.14129488G>CCA351534309TMEM43c.*119G>C (n.*119G>C)
c.89G>C (p.Ser30Thr)
c.-17G>C (n.-17G>C)
3g.14129488G=CA1346967888TMEM43c.*119G= (n.*119G=)
c.89G= (p.Ser30=)
c.-17G= (n.-17G=)
3g.14129488G>TCA351534310TMEM43c.*119G>T (n.*119G>T)
c.89G>T (p.Ser30Ile)
c.-17G>T (n.-17G>T)
3g.14129489C>ACA351534311TMEM43c.*120C>A (n.*120C>A)
c.90C>A (p.Ser30Arg)
c.-16C>A (n.-16C>A)
3g.14129489C=CA1346967889TMEM43c.*120C= (n.*120C=)
c.90C= (p.Ser30=)
c.-16C= (n.-16C=)
3g.14129489C>GCA351534312TMEM43c.*120C>G (n.*120C>G)
c.90C>G (p.Ser30Arg)
c.-16C>G (n.-16C>G)
3g.14129489C>TCA056240TMEM43c.*120C>T (n.*120C>T)
c.90C>T (p.Ser30=)
c.-16C>T (n.-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14129490G>ACA056258TMEM43c.*121G>A (n.*121G>A)
c.91G>A (p.Glu31Lys)
c.-15G>A (n.-15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14129490G>CCA351534314TMEM43c.*121G>C (n.*121G>C)
c.91G>C (p.Glu31Gln)
c.-15G>C (n.-15G>C)
 gnomAD v4
3g.14129490G=CA1346967890TMEM43c.*121G= (n.*121G=)
c.91G= (p.Glu31=)
c.-15G= (n.-15G=)
3g.14129490G>TCA351534313TMEM43c.*121G>T (n.*121G>T)
c.91G>T (p.Glu31Ter)
c.-15G>T (n.-15G>T)
3g.14129491A>CCA351534315TMEM43c.*122A>C (n.*122A>C)
c.92A>C (p.Glu31Ala)
c.-14A>C (n.-14A>C)
3g.14129491A>GCA351534316TMEM43c.*122A>G (n.*122A>G)
c.92A>G (p.Glu31Gly)
c.-14A>G (n.-14A>G)
3g.14129491A>TCA351534317TMEM43c.*122A>T (n.*122A>T)
c.92A>T (p.Glu31Val)
c.-14A>T (n.-14A>T)
3g.14129492G>ACA432551023TMEM43c.*123G>A (n.*123G>A)
c.93G>A (p.Glu31=)
c.-13G>A (n.-13G>A)
 COSMIC
3g.14129492G>CCA351534318TMEM43c.*123G>C (n.*123G>C)
c.93G>C (p.Glu31Asp)
c.-13G>C (n.-13G>C)
3g.14129492G>TCA351534319TMEM43c.*123G>T (n.*123G>T)
c.93G>T (p.Glu31Asp)
c.-13G>T (n.-13G>T)
3g.14129493A>CCA351534320TMEM43c.*124A>C (n.*124A>C)
c.94A>C (p.Thr32Pro)
c.-12A>C (n.-12A>C)
3g.14129493A>GCA351534321TMEM43c.*124A>G (n.*124A>G)
c.94A>G (p.Thr32Ala)
c.-12A>G (n.-12A>G)
3g.14129493A>TCA351534322TMEM43c.*124A>T (n.*124A>T)
c.94A>T (p.Thr32Ser)
c.-12A>T (n.-12A>T)
3g.14129494C>ACA351534323TMEM43c.*125C>A (n.*125C>A)
c.95C>A (p.Thr32Asn)
c.-11C>A (n.-11C>A)
3g.14129494C>GCA351534324TMEM43c.*125C>G (n.*125C>G)
c.95C>G (p.Thr32Ser)
c.-11C>G (n.-11C>G)
3g.14129494C>TCA351534325TMEM43c.*125C>T (n.*125C>T)
c.95C>T (p.Thr32Ile)
c.-11C>T (n.-11C>T)
3g.14129495C>ACA432551024TMEM43c.*126C>A (n.*126C>A)
c.96C>A (p.Thr32=)
c.-10C>A (n.-10C>A)
3g.14129495C=CA1346967891TMEM43c.*126C= (n.*126C=)
c.96C= (p.Thr32=)
c.-10C= (n.-10C=)
3g.14129495C>GCA432551025TMEM43c.*126C>G (n.*126C>G)
c.96C>G (p.Thr32=)
c.-10C>G (n.-10C>G)
3g.14129495C>TCA16604379TMEM43c.*126C>T (n.*126C>T)
c.96C>T (p.Thr32=)
c.-10C>T (n.-10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14129498_14129519delCA2697550691TMEM43c.*129_*150del (n.*129_*150del)
c.99_120del (p.Gly34TrpfsTer9)
c.-7_15del
 ClinVar
3g.14129496T>ACA351534326TMEM43c.*127T>A (n.*127T>A)
c.97T>A (p.Ser33Thr)
c.-9T>A (n.-9T>A)
3g.14129496T>CCA351534328TMEM43c.*127T>C (n.*127T>C)
c.97T>C (p.Ser33Pro)
c.-9T>C (n.-9T>C)
3g.14129496T>GCA351534327TMEM43c.*127T>G (n.*127T>G)
c.97T>G (p.Ser33Ala)
c.-9T>G (n.-9T>G)
 gnomAD v4
3g.14129497C>ACA351534329TMEM43c.*128C>A (n.*128C>A)
c.98C>A (p.Ser33Ter)
c.-8C>A (n.-8C>A)
3g.14129497C=CA1346967892TMEM43c.*128C= (n.*128C=)
c.98C= (p.Ser33=)
c.-8C= (n.-8C=)
3g.14129497C>GCA351534330TMEM43c.*128C>G (n.*128C>G)
c.98C>G (p.Ser33Trp)
c.-8C>G (n.-8C>G)
 gnomAD v4
3g.14129497C>TCA024811TMEM43c.*128C>T (n.*128C>T)
c.98C>T (p.Ser33Leu)
c.-8C>T (n.-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14129498G>ACA056432TMEM43c.*129G>A (n.*129G>A)
c.99G>A (p.Ser33=)
c.-7G>A (n.-7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.14129498G>CCA69728583TMEM43c.*129G>C (n.*129G>C)
c.99G>C (p.Ser33=)
c.-7G>C (n.-7G>C)
 ClinVar dbSNP gnomAD v4
3g.14129498G=CA1346967893TMEM43c.*129G= (n.*129G=)
c.99G= (p.Ser33=)
c.-7G= (n.-7G=)
3g.14129498G>TCA432551026TMEM43c.*129G>T (n.*129G>T)
c.99G>T (p.Ser33=)
c.-7G>T (n.-7G>T)
3g.14129499G>ACA351534331TMEM43c.*130G>A (n.*130G>A)
c.100G>A (p.Gly34Ser)
c.-6G>A (n.-6G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14129499G>CCA351534332TMEM43c.*130G>C (n.*130G>C)
c.100G>C (p.Gly34Arg)
c.-6G>C (n.-6G>C)
 dbSNP
3g.14129499G=CA1346967894TMEM43c.*130G= (n.*130G=)
c.100G= (p.Gly34=)
c.-6G= (n.-6G=)
3g.14129499G>TCA351534333TMEM43c.*130G>T (n.*130G>T)
c.100G>T (p.Gly34Cys)
c.-6G>T (n.-6G>T)
 dbSNP gnomAD v4
3g.14129500G>ACA351534334TMEM43c.*131G>A (n.*131G>A)
c.101G>A (p.Gly34Asp)
c.-5G>A (n.-5G>A)
 gnomAD v4
3g.14129500G>CCA351534335TMEM43c.*131G>C (n.*131G>C)
c.101G>C (p.Gly34Ala)
c.-5G>C (n.-5G>C)
3g.14129500G>TCA351534336TMEM43c.*131G>T (n.*131G>T)
c.101G>T (p.Gly34Val)
c.-5G>T (n.-5G>T)
3g.14129501T>ACA432551027TMEM43c.*132T>A (n.*132T>A)
c.102T>A (p.Gly34=)
c.-4T>A (n.-4T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14129501T>CCA432551028TMEM43c.*132T>C (n.*132T>C)
c.102T>C (p.Gly34=)
c.-4T>C (n.-4T>C)
3g.14129501T>GCA432551029TMEM43c.*132T>G (n.*132T>G)
c.102T>G (p.Gly34=)
c.-4T>G (n.-4T>G)
3g.14129501T=CA1346967895TMEM43c.*132T= (n.*132T=)
c.102T= (p.Gly34=)
c.-4T= (n.-4T=)
3g.14129502G>ACA351534339TMEM43c.*133G>A (n.*133G>A)
c.103G>A (p.Gly35Arg)
c.-3G>A (n.-3G>A)
 gnomAD v4
3g.14129502G>CCA351534338TMEM43c.*133G>C (n.*133G>C)
c.103G>C (p.Gly35Arg)
c.-3G>C (n.-3G>C)
3g.14129502G=CA1346967896TMEM43c.*133G= (n.*133G=)
c.103G= (p.Gly35=)
c.-3G= (n.-3G=)
3g.14129502G>TCA351534337TMEM43c.*133G>T (n.*133G>T)
c.103G>T (p.Gly35Trp)
c.-3G>T (n.-3G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.14129503G>ACA351534340TMEM43c.*134G>A (n.*134G>A)
c.104G>A (p.Gly35Glu)
c.-2G>A (n.-2G>A)
3g.14129503G>CCA351534341TMEM43c.*134G>C (n.*134G>C)
c.104G>C (p.Gly35Ala)
c.-2G>C (n.-2G>C)
3g.14129503G>TCA351534342TMEM43c.*134G>T (n.*134G>T)
c.104G>T (p.Gly35Val)
c.-2G>T (n.-2G>T)
3g.14129504G>ACA432551030TMEM43c.*135G>A (n.*135G>A)
c.105G>A (p.Gly35=)
c.-1G>A (n.-1G>A)
 ClinVar
3g.14129504G>CCA432551032TMEM43c.*135G>C (n.*135G>C)
c.105G>C (p.Gly35=)
c.-1G>C (n.-1G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.14129504G=CA1346967897TMEM43c.*135G= (n.*135G=)
c.105G= (p.Gly35=)
c.-1G= (n.-1G=)
3g.14129504G>TCA432551031TMEM43c.*135G>T (n.*135G>T)
c.105G>T (p.Gly35=)
c.-1G>T (n.-1G>T)
3g.14129505A>CCA351534343TMEM43c.*136A>C (n.*136A>C)
c.106A>C (p.Met36Leu)
c.1A>C (p.Met1Leu)
3g.14129505A>GCA351534344TMEM43c.*136A>G (n.*136A>G)
c.106A>G (p.Met36Val)
c.1A>G (p.Met1Val)
 ClinVar gnomAD v4
3g.14129505A>TCA351534345TMEM43c.*136A>T (n.*136A>T)
c.106A>T (p.Met36Leu)
c.1A>T (p.Met1Leu)
3g.14129506T>ACA351534346TMEM43c.*137T>A (n.*137T>A)
c.107T>A (p.Met36Lys)
c.2T>A (p.Met1Lys)
 ClinVar dbSNP gnomAD v4
3g.14129506T>CCA351534347TMEM43c.*137T>C (n.*137T>C)
c.107T>C (p.Met36Thr)
c.2T>C (p.Met1Thr)
 gnomAD v4
3g.14129506T>GCA351534348TMEM43c.*137T>G (n.*137T>G)
c.107T>G (p.Met36Arg)
c.2T>G (p.Met1Arg)
 gnomAD v4
3g.14129506T=CA1346967898TMEM43c.*137T= (n.*137T=)
c.107T= (p.Met36=)
c.2T= (p.Met1=)
3g.14129507G>ACA351534349TMEM43c.*138G>A (n.*138G>A)
c.108G>A (p.Met36Ile)
c.3G>A (p.Met1Ile)
 ClinVar dbSNP
3g.14129507G>CCA351534350TMEM43c.*138G>C (n.*138G>C)
c.108G>C (p.Met36Ile)
c.3G>C (p.Met1Ile)
3g.14129507G=CA1346967899TMEM43c.*138G= (n.*138G=)
c.108G= (p.Met36=)
c.3G= (p.Met1=)
3g.14129507G>TCA351534351TMEM43c.*138G>T (n.*138G>T)
c.108G>T (p.Met36Ile)
c.3G>T (p.Met1Ile)
3g.14129508T>ACA351534353TMEM43c.*139T>A (n.*139T>A)
c.109T>A (p.Phe37Ile)
c.4T>A (p.Phe2Ile)
3g.14129508T>CCA351534354TMEM43c.*139T>C (n.*139T>C)
c.109T>C (p.Phe37Leu)
c.4T>C (p.Phe2Leu)
 ClinVar dbSNP
3g.14129508T>GCA351534352TMEM43c.*139T>G (n.*139T>G)
c.109T>G (p.Phe37Val)
c.4T>G (p.Phe2Val)
3g.14129508T=CA1346967900TMEM43c.*139T= (n.*139T=)
c.109T= (p.Phe37=)
c.4T= (p.Phe2=)
3g.14129509T>ACA351534355TMEM43c.*140T>A (n.*140T>A)
c.110T>A (p.Phe37Tyr)
c.5T>A (p.Phe2Tyr)
3g.14129509T>CCA351534356TMEM43c.*140T>C (n.*140T>C)
c.110T>C (p.Phe37Ser)
c.5T>C (p.Phe2Ser)
3g.14129509T>GCA351534357TMEM43c.*140T>G (n.*140T>G)
c.110T>G (p.Phe37Cys)
c.5T>G (p.Phe2Cys)
 ClinVar dbSNP gnomAD v4
3g.14129509T=CA1346967901TMEM43c.*140T= (n.*140T=)
c.110T= (p.Phe37=)
c.5T= (p.Phe2=)
3g.14129510T>ACA351534358TMEM43c.*141T>A (n.*141T>A)
c.111T>A (p.Phe37Leu)
c.6T>A (p.Phe2Leu)
3g.14129510T>CCA432551033TMEM43c.*141T>C (n.*141T>C)
c.111T>C (p.Phe37=)
c.6T>C (p.Phe2=)
 dbSNP
3g.14129510T>GCA351534359TMEM43c.*141T>G (n.*141T>G)
c.111T>G (p.Phe37Leu)
c.6T>G (p.Phe2Leu)
3g.14129511G>ACA351534361TMEM43c.*142G>A (n.*142G>A)
c.112G>A (p.Val38Met)
c.7G>A (p.Val3Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14129511G>CCA69728586TMEM43c.*142G>C (n.*142G>C)
c.112G>C (p.Val38Leu)
c.7G>C (p.Val3Leu)
 dbSNP
3g.14129511G=CA1346967902TMEM43c.*142G= (n.*142G=)
c.112G= (p.Val38=)
c.7G= (p.Val3=)
3g.14129511G>TCA351534360TMEM43c.*142G>T (n.*142G>T)
c.112G>T (p.Val38Leu)
c.7G>T (p.Val3Leu)
3g.14129512T>ACA351534362TMEM43c.*143T>A (n.*143T>A)
c.113T>A (p.Val38Glu)
c.8T>A (p.Val3Glu)
 ClinVar dbSNP
3g.14129512T>CCA351534363TMEM43c.*143T>C (n.*143T>C)
c.113T>C (p.Val38Ala)
c.8T>C (p.Val3Ala)
3g.14129512T>GCA351534364TMEM43c.*143T>G (n.*143T>G)
c.113T>G (p.Val38Gly)
c.8T>G (p.Val3Gly)
3g.14129512T=CA1346967903TMEM43c.*143T= (n.*143T=)
c.113T= (p.Val38=)
c.8T= (p.Val3=)
3g.14129513G>ACA432551036TMEM43c.*144G>A (n.*144G>A)
c.114G>A (p.Val38=)
c.9G>A (p.Val3=)
3g.14129513G>CCA432551034TMEM43c.*144G>C (n.*144G>C)
c.114G>C (p.Val38=)
c.9G>C (p.Val3=)
3g.14129513G>TCA432551035TMEM43c.*144G>T (n.*144G>T)
c.114G>T (p.Val38=)
c.9G>T (p.Val3=)
3g.14129514G>ACA351534365TMEM43c.*145G>A (n.*145G>A)
c.115G>A (p.Gly39Arg)
c.10G>A (p.Gly4Arg)
3g.14129514G>CCA351534366TMEM43c.*145G>C (n.*145G>C)
c.115G>C (p.Gly39Arg)
c.10G>C (p.Gly4Arg)
3g.14129514G>TCA351534367TMEM43c.*145G>T (n.*145G>T)
c.115G>T (p.Gly39Trp)
c.10G>T (p.Gly4Trp)
3g.14129515G>ACA351534370TMEM43c.*146G>A (n.*146G>A)
c.116G>A (p.Gly39Glu)
c.11G>A (p.Gly4Glu)
3g.14129515G>CCA351534368TMEM43c.*146G>C (n.*146G>C)
c.116G>C (p.Gly39Ala)
c.11G>C (p.Gly4Ala)
3g.14129515G>TCA351534369TMEM43c.*146G>T (n.*146G>T)
c.116G>T (p.Gly39Val)
c.11G>T (p.Gly4Val)
3g.14129516G>ACA432551037TMEM43c.*147G>A (n.*147G>A)
c.117G>A (p.Gly39=)
c.12G>A (p.Gly4=)
3g.14129516G>CCA432551038TMEM43c.*147G>C (n.*147G>C)
c.117G>C (p.Gly39=)
c.12G>C (p.Gly4=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14129516G=CA1346967904TMEM43c.*147G= (n.*147G=)
c.117G= (p.Gly39=)
c.12G= (p.Gly4=)
3g.14129516G>TCA432551039TMEM43c.*147G>T (n.*147G>T)
c.117G>T (p.Gly39=)
c.12G>T (p.Gly4=)
3g.14129517delCA2664568580TMEM43c.*148del (n.*148del)
c.118del (p.Leu40SerfsTer10)
c.13del (p.Leu5SerfsTer10)
 gnomAD v4
3g.14129517C>ACA351534371TMEM43c.*148C>A (n.*148C>A)
c.118C>A (p.Leu40Ile)
c.13C>A (p.Leu5Ile)
3g.14129517C=CA1346967905TMEM43c.*148C= (n.*148C=)
c.118C= (p.Leu40=)
c.13C= (p.Leu5=)
3g.14129517C>GCA051438TMEM43c.*148C>G (n.*148C>G)
c.118C>G (p.Leu40Val)
c.13C>G (p.Leu5Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14129517C>TCA351534372TMEM43c.*148C>T (n.*148C>T)
c.118C>T (p.Leu40Phe)
c.13C>T (p.Leu5Phe)
3g.14129518T>ACA351534373TMEM43c.*149T>A (n.*149T>A)
c.119T>A (p.Leu40His)
c.14T>A (p.Leu5His)
3g.14129518T>CCA351534374TMEM43c.*149T>C (n.*149T>C)
c.119T>C (p.Leu40Pro)
c.14T>C (p.Leu5Pro)
3g.14129518T>GCA351534375TMEM43c.*149T>G (n.*149T>G)
c.119T>G (p.Leu40Arg)
c.14T>G (p.Leu5Arg)
3g.14129519C>ACA432551040TMEM43c.*150C>A (n.*150C>A)
c.120C>A (p.Leu40=)
c.15C>A (p.Leu5=)
3g.14129519C=CA1346967906TMEM43c.*150C= (n.*150C=)
c.120C= (p.Leu40=)
c.15C= (p.Leu5=)
3g.14129519C>GCA432551041TMEM43c.*150C>G (n.*150C>G)
c.120C>G (p.Leu40=)
c.15C>G (p.Leu5=)
3g.14129519C>TCA051476TMEM43c.*150C>T (n.*150C>T)
c.120C>T (p.Leu40=)
c.15C>T (p.Leu5=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.14129520A=CA1346967907TMEM43c.*151A= (n.*151A=)
c.121A= (p.Met41=)
c.16A= (p.Met6=)
3g.14129520A>CCA351534376TMEM43c.*151A>C (n.*151A>C)
c.121A>C (p.Met41Leu)
c.16A>C (p.Met6Leu)
 dbSNP gnomAD v4
3g.14129520A>GCA024600TMEM43c.*151A>G (n.*151A>G)
c.121A>G (p.Met41Val)
c.16A>G (p.Met6Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14129520A>TCA351534377TMEM43c.*151A>T (n.*151A>T)
c.121A>T (p.Met41Leu)
c.16A>T (p.Met6Leu)
3g.14129521T>ACA351534378TMEM43c.*152T>A (n.*152T>A)
c.122T>A (p.Met41Lys)
c.17T>A (p.Met6Lys)
3g.14129521T>CCA351534379TMEM43c.*152T>C (n.*152T>C)
c.122T>C (p.Met41Thr)
c.17T>C (p.Met6Thr)
3g.14129521T>GCA351534380TMEM43c.*152T>G (n.*152T>G)
c.122T>G (p.Met41Arg)
c.17T>G (p.Met6Arg)
3g.14129522G>ACA351534383TMEM43c.*153G>A (n.*153G>A)
c.123G>A (p.Met41Ile)
c.18G>A (p.Met6Ile)
 gnomAD v4
3g.14129522G>CCA351534381TMEM43c.*153G>C (n.*153G>C)
c.123G>C (p.Met41Ile)
c.18G>C (p.Met6Ile)
3g.14129522G>TCA351534382TMEM43c.*153G>T (n.*153G>T)
c.123G>T (p.Met41Ile)
c.18G>T (p.Met6Ile)
3g.14129523G>ACA351534384TMEM43c.*154G>A (n.*154G>A)
c.124G>A (p.Ala42Thr)
c.19G>A (p.Ala7Thr)
3g.14129523G>CCA351534385TMEM43c.*154G>C (n.*154G>C)
c.124G>C (p.Ala42Pro)
c.19G>C (p.Ala7Pro)
3g.14129523G>TCA351534386TMEM43c.*154G>T (n.*154G>T)
c.124G>T (p.Ala42Ser)
c.19G>T (p.Ala7Ser)
 ClinVar dbSNP
3g.14129524C>ACA351534387TMEM43c.*155C>A (n.*155C>A)
c.125C>A (p.Ala42Asp)
c.20C>A (p.Ala7Asp)
3g.14129524C>GCA351534388TMEM43c.*155C>G (n.*155C>G)
c.125C>G (p.Ala42Gly)
c.20C>G (p.Ala7Gly)
3g.14129524C>TCA351534389TMEM43c.*155C>T (n.*155C>T)
c.125C>T (p.Ala42Val)
c.20C>T (p.Ala7Val)
3g.14129525C>ACA432551042TMEM43c.*156C>A (n.*156C>A)
c.126C>A (p.Ala42=)
c.21C>A (p.Ala7=)
3g.14129525C>GCA432551043TMEM43c.*156C>G (n.*156C>G)
c.126C>G (p.Ala42=)
c.21C>G (p.Ala7=)
3g.14129525C>TCA432551044TMEM43c.*156C>T (n.*156C>T)
c.126C>T (p.Ala42=)
c.21C>T (p.Ala7=)
3g.14129526T>ACA351534390TMEM43c.*157T>A (n.*157T>A)
c.127T>A (p.Phe43Ile)
c.22T>A (p.Phe8Ile)
3g.14129526T>CCA351534391TMEM43c.*157T>C (n.*157T>C)
c.127T>C (p.Phe43Leu)
c.22T>C (p.Phe8Leu)
3g.14129526T>GCA351534392TMEM43c.*157T>G (n.*157T>G)
c.127T>G (p.Phe43Val)
c.22T>G (p.Phe8Val)
3g.14129527T>ACA351534393TMEM43c.*158T>A (n.*158T>A)
c.128T>A (p.Phe43Tyr)
c.23T>A (p.Phe8Tyr)
3g.14129527T>CCA351534394TMEM43c.*158T>C (n.*158T>C)
c.128T>C (p.Phe43Ser)
c.23T>C (p.Phe8Ser)
3g.14129527T>GCA351534395TMEM43c.*158T>G (n.*158T>G)
c.128T>G (p.Phe43Cys)
c.23T>G (p.Phe8Cys)
3g.14129528C>ACA351534396TMEM43c.*159C>A (n.*159C>A)
c.129C>A (p.Phe43Leu)
c.24C>A (p.Phe8Leu)
3g.14129528C>GCA351534397TMEM43c.*159C>G (n.*159C>G)
c.129C>G (p.Phe43Leu)
c.24C>G (p.Phe8Leu)
3g.14129528C>TCA432551045TMEM43c.*159C>T (n.*159C>T)
c.129C>T (p.Phe43=)
c.24C>T (p.Phe8=)
 COSMIC
3g.14129529delCA2499216515TMEM43c.*160del (n.*160del)
c.130del (p.Leu44CysfsTer6)
c.25del (p.Leu9CysfsTer6)
 ClinVar dbSNP
3g.14129529C>ACA351534399TMEM43c.*160C>A (n.*160C>A)
c.130C>A (p.Leu44Met)
c.25C>A (p.Leu9Met)
3g.14129529C>GCA351534398TMEM43c.*160C>G (n.*160C>G)
c.130C>G (p.Leu44Val)
c.25C>G (p.Leu9Val)
3g.14129529C>TCA432551046TMEM43c.*160C>T (n.*160C>T)
c.130C>T (p.Leu44=)
c.25C>T (p.Leu9=)
3g.14129530T>ACA351534400TMEM43c.*161T>A (n.*161T>A)
c.131T>A (p.Leu44Gln)
c.26T>A (p.Leu9Gln)
3g.14129530T>CCA351534401TMEM43c.*161T>C (n.*161T>C)
c.131T>C (p.Leu44Pro)
c.26T>C (p.Leu9Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14129530T>GCA351534402TMEM43c.*161T>G (n.*161T>G)
c.131T>G (p.Leu44Arg)
c.26T>G (p.Leu9Arg)
3g.14129530T=CA1346967908TMEM43c.*161T= (n.*161T=)
c.131T= (p.Leu44=)
c.26T= (p.Leu9=)
3g.14129531G>ACA051599TMEM43c.*162G>A (n.*162G>A)
c.132G>A (p.Leu44=)
c.27G>A (p.Leu9=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.14129531G>CCA432551047TMEM43c.*162G>C (n.*162G>C)
c.132G>C (p.Leu44=)
c.27G>C (p.Leu9=)
 dbSNP
3g.14129531G=CA1346967909TMEM43c.*162G= (n.*162G=)
c.132G= (p.Leu44=)
c.27G= (p.Leu9=)
3g.14129531G>TCA432551048TMEM43c.*162G>T (n.*162G>T)
c.132G>T (p.Leu44=)
c.27G>T (p.Leu9=)
3g.14129532C>ACA351534403TMEM43c.*163C>A (n.*163C>A)
c.133C>A (p.Leu45Ile)
c.28C>A (p.Leu10Ile)
 COSMIC
3g.14129532C=CA1346967910TMEM43c.*163C= (n.*163C=)
c.133C= (p.Leu45=)
c.28C= (p.Leu10=)
3g.14129532C>GCA351534404TMEM43c.*163C>G (n.*163C>G)
c.133C>G (p.Leu45Val)
c.28C>G (p.Leu10Val)
3g.14129532C>TCA351534405TMEM43c.*163C>T (n.*163C>T)
c.133C>T (p.Leu45Phe)
c.28C>T (p.Leu10Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14129533T>ACA351534406TMEM43c.*164T>A (n.*164T>A)
c.134T>A (p.Leu45His)
c.29T>A (p.Leu10His)
3g.14129533T>CCA351534407TMEM43c.*164T>C (n.*164T>C)
c.134T>C (p.Leu45Pro)
c.29T>C (p.Leu10Pro)
3g.14129533T>GCA351534408TMEM43c.*164T>G (n.*164T>G)
c.134T>G (p.Leu45Arg)
c.29T>G (p.Leu10Arg)
3g.14129534C>ACA432551049TMEM43c.*165C>A (n.*165C>A)
c.135C>A (p.Leu45=)
c.30C>A (p.Leu10=)
3g.14129534C=CA1346967911TMEM43c.*165C= (n.*165C=)
c.135C= (p.Leu45=)
c.30C= (p.Leu10=)
3g.14129534C>GCA432551050TMEM43c.*165C>G (n.*165C>G)
c.135C>G (p.Leu45=)
c.30C>G (p.Leu10=)
 ClinVar dbSNP gnomAD v4
3g.14129534C>TCA432551051TMEM43c.*165C>T (n.*165C>T)
c.135C>T (p.Leu45=)
c.30C>T (p.Leu10=)
 gnomAD v4
3g.14129535T>ACA351534409TMEM43c.*166T>A (n.*166T>A)
c.136T>A (p.Ser46Thr)
c.31T>A (p.Ser11Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14129535T>CCA051850TMEM43c.*166T>C (n.*166T>C)
c.136T>C (p.Ser46Pro)
c.31T>C (p.Ser11Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14129535T>GCA351534410TMEM43c.*166T>G (n.*166T>G)
c.136T>G (p.Ser46Ala)
c.31T>G (p.Ser11Ala)
3g.14129535T=CA1346967912TMEM43c.*166T= (n.*166T=)
c.136T= (p.Ser46=)
c.31T= (p.Ser11=)
3g.14129536C>ACA351534411TMEM43c.*167C>A (n.*167C>A)
c.137C>A (p.Ser46Tyr)
c.32C>A (p.Ser11Tyr)
3g.14129536C>GCA351534413TMEM43c.*167C>G (n.*167C>G)
c.137C>G (p.Ser46Cys)
c.32C>G (p.Ser11Cys)
3g.14129536C>TCA351534412TMEM43c.*167C>T (n.*167C>T)
c.137C>T (p.Ser46Phe)
c.32C>T (p.Ser11Phe)
3g.14129536_14129539delinsCCTTCA1346967913TMEM43c.*167_*170delinsCCTT (n.*167_*170delinsCCTT)
c.137_140delinsCCTT (p.Ser46=)
c.32_35delinsCCTT (p.Ser11=)
3g.14129537C>ACA432551052TMEM43c.*168C>A (n.*168C>A)
c.138C>A (p.Ser46=)
c.33C>A (p.Ser11=)
3g.14129537C>GCA432551053TMEM43c.*168C>G (n.*168C>G)
c.138C>G (p.Ser46=)
c.33C>G (p.Ser11=)
3g.14129537C>TCA432551054TMEM43c.*168C>T (n.*168C>T)
c.138C>T (p.Ser46=)
c.33C>T (p.Ser11=)
3g.14129539_14129541delCA051865TMEM43c.*170_*172del (n.*170_*172del)
c.140_142del (p.Phe47del)
c.35_37del (p.Phe12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.14129538T>ACA351534414TMEM43c.*169T>A (n.*169T>A)
c.139T>A (p.Phe47Ile)
c.34T>A (p.Phe12Ile)
3g.14129538T>CCA351534415TMEM43c.*169T>C (n.*169T>C)
c.139T>C (p.Phe47Leu)
c.34T>C (p.Phe12Leu)
3g.14129538T>GCA351534416TMEM43c.*169T>G (n.*169T>G)
c.139T>G (p.Phe47Val)
c.34T>G (p.Phe12Val)
3g.14129539T>ACA351534417TMEM43c.*170T>A (n.*170T>A)
c.140T>A (p.Phe47Tyr)
c.35T>A (p.Phe12Tyr)
3g.14129539T>CCA351534418TMEM43c.*170T>C (n.*170T>C)
c.140T>C (p.Phe47Ser)
c.35T>C (p.Phe12Ser)
 ClinVar dbSNP
3g.14129539T>GCA351534419TMEM43c.*170T>G (n.*170T>G)
c.140T>G (p.Phe47Cys)
c.35T>G (p.Phe12Cys)
3g.14129539T=CA1346967914TMEM43c.*170T= (n.*170T=)
c.140T= (p.Phe47=)
c.35T= (p.Phe12=)
3g.14129540C>ACA351534421TMEM43c.*171C>A (n.*171C>A)
c.141C>A (p.Phe47Leu)
c.36C>A (p.Phe12Leu)
3g.14129540C>GCA351534422TMEM43c.*171C>G (n.*171C>G)
c.141C>G (p.Phe47Leu)
c.36C>G (p.Phe12Leu)
3g.14129540C>TCA432551056TMEM43c.*171C>T (n.*171C>T)
c.141C>T (p.Phe47=)
c.36C>T (p.Phe12=)
3g.14129541T>ACA351534423TMEM43c.*172T>A (n.*172T>A)
c.142T>A (p.Tyr48Asn)
c.37T>A (p.Tyr13Asn)
3g.14129541T>CCA351534424TMEM43c.*172T>C (n.*172T>C)
c.142T>C (p.Tyr48His)
c.37T>C (p.Tyr13His)
3g.14129541T>GCA351534425TMEM43c.*172T>G (n.*172T>G)
c.142T>G (p.Tyr48Asp)
c.37T>G (p.Tyr13Asp)
3g.14129542A=CA1346967915TMEM43c.*173A= (n.*173A=)
c.143A= (p.Tyr48=)
c.38A= (p.Tyr13=)
3g.14129542A>CCA351534426TMEM43c.*173A>C (n.*173A>C)
c.143A>C (p.Tyr48Ser)
c.38A>C (p.Tyr13Ser)
 ClinVar dbSNP
3g.14129542A>GCA351534427TMEM43c.*173A>G (n.*173A>G)
c.143A>G (p.Tyr48Cys)
c.38A>G (p.Tyr13Cys)
 ClinVar
3g.14129542A>TCA351534428TMEM43c.*173A>T (n.*173A>T)
c.143A>T (p.Tyr48Phe)
c.38A>T (p.Tyr13Phe)
3g.14129543C>ACA351534429TMEM43c.*174C>A (n.*174C>A)
c.144C>A (p.Tyr48Ter)
c.39C>A (p.Tyr13Ter)
3g.14129543C>GCA351534430TMEM43c.*174C>G (n.*174C>G)
c.144C>G (p.Tyr48Ter)
c.39C>G (p.Tyr13Ter)
3g.14129543C>TCA432551057TMEM43c.*174C>T (n.*174C>T)
c.144C>T (p.Tyr48=)
c.39C>T (p.Tyr13=)
3g.14129544C>ACA351534431TMEM43c.*175C>A (n.*175C>A)
c.145C>A (p.Leu49Ile)
c.40C>A (p.Leu14Ile)
3g.14129544C>GCA351534432TMEM43c.*175C>G (n.*175C>G)
c.145C>G (p.Leu49Val)
c.40C>G (p.Leu14Val)
3g.14129544C>TCA432551058TMEM43c.*175C>T (n.*175C>T)
c.145C>T (p.Leu49=)
c.40C>T (p.Leu14=)
3g.14129545T>ACA351534433TMEM43c.*176T>A (n.*176T>A)
c.146T>A (p.Leu49Gln)
c.41T>A (p.Leu14Gln)
3g.14129545T>CCA351534434TMEM43c.*176T>C (n.*176T>C)
c.146T>C (p.Leu49Pro)
c.41T>C (p.Leu14Pro)
3g.14129545T>GCA351534435TMEM43c.*176T>G (n.*176T>G)
c.146T>G (p.Leu49Arg)
c.41T>G (p.Leu14Arg)
3g.14129546A=CA1346967916TMEM43c.*177A= (n.*177A=)
c.147A= (p.Leu49=)
c.42A= (p.Leu14=)
3g.14129546A>CCA432551059TMEM43c.*177A>C (n.*177A>C)
c.147A>C (p.Leu49=)
c.42A>C (p.Leu14=)
3g.14129546A>GCA024606TMEM43c.*177A>G (n.*177A>G)
c.147A>G (p.Leu49=)
c.42A>G (p.Leu14=)
 ClinVar dbSNP
3g.14129546A>TCA432551060TMEM43c.*177A>T (n.*177A>T)
c.147A>T (p.Leu49=)
c.42A>T (p.Leu14=)
3g.14129547A>CCA351534436TMEM43c.*178A>C (n.*178A>C)
c.148A>C (p.Ile50Leu)
c.43A>C (p.Ile15Leu)
3g.14129547A>GCA351534437TMEM43c.*178A>G (n.*178A>G)
c.148A>G (p.Ile50Val)
c.43A>G (p.Ile15Val)
3g.14129547A>TCA351534438TMEM43c.*178A>T (n.*178A>T)
c.148A>T (p.Ile50Phe)
c.43A>T (p.Ile15Phe)
3g.14129548T>ACA351534439TMEM43c.*179T>A (n.*179T>A)
c.149T>A (p.Ile50Asn)
c.44T>A (p.Ile15Asn)
3g.14129548T>CCA351534440TMEM43c.*179T>C (n.*179T>C)
c.149T>C (p.Ile50Thr)
c.44T>C (p.Ile15Thr)
3g.14129548T>GCA351534441TMEM43c.*179T>G (n.*179T>G)
c.149T>G (p.Ile50Ser)
c.44T>G (p.Ile15Ser)
3g.14129549T>ACA432551061TMEM43c.*180T>A (n.*180T>A)
c.150T>A (p.Ile50=)
c.45T>A (p.Ile15=)
3g.14129549T>CCA432551062TMEM43c.*180T>C (n.*180T>C)
c.150T>C (p.Ile50=)
c.45T>C (p.Ile15=)
 dbSNP
3g.14129549T>GCA351534442TMEM43c.*180T>G (n.*180T>G)
c.150T>G (p.Ile50Met)
c.45T>G (p.Ile15Met)
3g.14129549T=CA1346967917TMEM43c.*180T= (n.*180T=)
c.150T= (p.Ile50=)
c.45T= (p.Ile15=)
3g.14129550T>ACA351534443TMEM43c.*181T>A (n.*181T>A)
c.151T>A (p.Phe51Ile)
c.46T>A (p.Phe16Ile)
3g.14129550T>CCA351534445TMEM43c.*181T>C (n.*181T>C)
c.151T>C (p.Phe51Leu)
c.46T>C (p.Phe16Leu)
3g.14129550T>GCA351534444TMEM43c.*181T>G (n.*181T>G)
c.151T>G (p.Phe51Val)
c.46T>G (p.Phe16Val)
 gnomAD v4
3g.14129551T>ACA351534446TMEM43c.*182T>A (n.*182T>A)
c.152T>A (p.Phe51Tyr)
c.47T>A (p.Phe16Tyr)
3g.14129551T>CCA351534447TMEM43c.*182T>C (n.*182T>C)
c.152T>C (p.Phe51Ser)
c.47T>C (p.Phe16Ser)
3g.14129551T>GCA351534448TMEM43c.*182T>G (n.*182T>G)
c.152T>G (p.Phe51Cys)
c.47T>G (p.Phe16Cys)
3g.14129552C>ACA351534449TMEM43c.*183C>A (n.*183C>A)
c.153C>A (p.Phe51Leu)
c.48C>A (p.Phe16Leu)
3g.14129552C=CA1346967918TMEM43c.*183C= (n.*183C=)
c.153C= (p.Phe51=)
c.48C= (p.Phe16=)
3g.14129552C>GCA351534450TMEM43c.*183C>G (n.*183C>G)
c.153C>G (p.Phe51Leu)
c.48C>G (p.Phe16Leu)
3g.14129552C>TCA432551063TMEM43c.*183C>T (n.*183C>T)
c.153C>T (p.Phe51=)
c.48C>T (p.Phe16=)
 dbSNP gnomAD v4
3g.14129553A=CA1346967919TMEM43c.*184A= (n.*184A=)
c.154A= (p.Thr52=)
c.49A= (p.Thr17=)
3g.14129553A>CCA351534451TMEM43c.*184A>C (n.*184A>C)
c.154A>C (p.Thr52Pro)
c.49A>C (p.Thr17Pro)
 dbSNP gnomAD v4
3g.14129553A>GCA351534452TMEM43c.*184A>G (n.*184A>G)
c.154A>G (p.Thr52Ala)
c.49A>G (p.Thr17Ala)
3g.14129553A>TCA351534453TMEM43c.*184A>T (n.*184A>T)
c.154A>T (p.Thr52Ser)
c.49A>T (p.Thr17Ser)
3g.14129554C>ACA351534454TMEM43c.*185C>A (n.*185C>A)
c.155C>A (p.Thr52Asn)
c.50C>A (p.Thr17Asn)
3g.14129554C=CA1346967920TMEM43c.*185C= (n.*185C=)
c.155C= (p.Thr52=)
c.50C= (p.Thr17=)
3g.14129554C>GCA351534455TMEM43c.*185C>G (n.*185C>G)
c.155C>G (p.Thr52Ser)
c.50C>G (p.Thr17Ser)
3g.14129554C>TCA351534456TMEM43c.*185C>T (n.*185C>T)
c.155C>T (p.Thr52Ile)
c.50C>T (p.Thr17Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.14129555C>ACA432551064TMEM43c.*186C>A (n.*186C>A)
c.156C>A (p.Thr52=)
c.51C>A (p.Thr17=)
3g.14129555C=CA1346967921TMEM43c.*186C= (n.*186C=)
c.156C= (p.Thr52=)
c.51C= (p.Thr17=)
3g.14129555C>GCA432551065TMEM43c.*186C>G (n.*186C>G)
c.156C>G (p.Thr52=)
c.51C>G (p.Thr17=)
3g.14129555C>TCA432551066TMEM43c.*186C>T (n.*186C>T)
c.156C>T (p.Thr52=)
c.51C>T (p.Thr17=)
 dbSNP gnomAD v2 gnomAD v4
3g.14129556A>CCA351534459TMEM43c.*187A>C (n.*187A>C)
c.157A>C (p.Asn53His)
c.52A>C (p.Asn18His)
3g.14129556A>GCA351534458TMEM43c.*187A>G (n.*187A>G)
c.157A>G (p.Asn53Asp)
c.52A>G (p.Asn18Asp)
3g.14129556A>TCA351534457TMEM43c.*187A>T (n.*187A>T)
c.157A>T (p.Asn53Tyr)
c.52A>T (p.Asn18Tyr)
3g.14129557A>CCA351534460TMEM43c.*188A>C (n.*188A>C)
c.158A>C (p.Asn53Thr)
c.53A>C (p.Asn18Thr)
3g.14129557A>GCA351534461TMEM43c.*188A>G (n.*188A>G)
c.158A>G (p.Asn53Ser)
c.53A>G (p.Asn18Ser)
 gnomAD v4
3g.14129557A>TCA351534462TMEM43c.*188A>T (n.*188A>T)
c.158A>T (p.Asn53Ile)
c.53A>T (p.Asn18Ile)
3g.14129558T>ACA351534463TMEM43c.*189T>A (n.*189T>A)
c.159T>A (p.Asn53Lys)
c.54T>A (p.Asn18Lys)
3g.14129558T>CCA432551068TMEM43c.*189T>C (n.*189T>C)
c.159T>C (p.Asn53=)
c.54T>C (p.Asn18=)
3g.14129558T>GCA351534464TMEM43c.*189T>G (n.*189T>G)
c.159T>G (p.Asn53Lys)
c.54T>G (p.Asn18Lys)
3g.14129559G>ACA351534465TMEM43c.*190G>A (n.*190G>A)
c.160G>A (p.Glu54Lys)
c.55G>A (p.Glu19Lys)
 gnomAD v4
3g.14129559G>CCA351534466TMEM43c.*190G>C (n.*190G>C)
c.160G>C (p.Glu54Gln)
c.55G>C (p.Glu19Gln)
3g.14129559G>TCA351534467TMEM43c.*190G>T (n.*190G>T)
c.160G>T (p.Glu54Ter)
c.55G>T (p.Glu19Ter)
3g.14129560A>CCA351534468TMEM43c.*191A>C (n.*191A>C)
c.161A>C (p.Glu54Ala)
c.56A>C (p.Glu19Ala)
3g.14129560A>GCA351534469TMEM43c.*191A>G (n.*191A>G)
c.161A>G (p.Glu54Gly)
c.56A>G (p.Glu19Gly)
3g.14129560A>TCA351534470TMEM43c.*191A>T (n.*191A>T)
c.161A>T (p.Glu54Val)
c.56A>T (p.Glu19Val)

Number of alleles fetched