Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.14139213A>CCA351536146TMEM43c.*946A>C (n.*946A>C)
c.916A>C (p.Met306Leu)
n.243A>C
c.152A>C
c.811A>C (p.Met271Leu)
gnomAD v4
3g.14139213A>GCA351536144TMEM43c.*946A>G (n.*946A>G)
c.916A>G (p.Met306Val)
n.243A>G
c.152A>G
c.811A>G (p.Met271Val)
3g.14139213A>TCA351536147TMEM43c.*946A>T (n.*946A>T)
c.916A>T (p.Met306Leu)
n.243A>T
c.152A>T
c.811A>T (p.Met271Leu)
3g.14139214T>ACA351536148TMEM43c.*947T>A (n.*947T>A)
c.917T>A (p.Met306Lys)
n.244T>A
c.153T>A
c.812T>A (p.Met271Lys)
3g.14139214T>CCA351536149TMEM43c.*947T>C (n.*947T>C)
c.917T>C (p.Met306Thr)
n.244T>C
c.153T>C
c.812T>C (p.Met271Thr)
ClinVar dbSNP gnomAD v4
3g.14139214T>GCA351536150TMEM43c.*947T>G (n.*947T>G)
c.917T>G (p.Met306Arg)
n.244T>G
c.153T>G
c.812T>G (p.Met271Arg)
dbSNP gnomAD v3 gnomAD v4
3g.14139214T=CA1346972747TMEM43c.*947T= (n.*947T=)
c.917T= (p.Met306=)
n.244T=
c.153T=
c.812T= (p.Met271=)
3g.14139214_14139215delinsCTCA658657277TMEM43c.*947_*948delinsCT (n.*947_*948delinsCT)
c.917_918delinsCT (p.Met306Thr)
n.244_245delinsCT
c.153_154delinsCT
c.812_813delinsCT (p.Met271Thr)
ClinVar dbSNP
3g.14139214_14139215delinsTGCA1346972746TMEM43c.*947_*948delinsTG (n.*947_*948delinsTG)
c.917_918delinsTG (p.Met306=)
n.244_245delinsTG
c.153_154delinsTG
c.812_813delinsTG (p.Met271=)
3g.14139215G>ACA351536151TMEM43c.*948G>A (n.*948G>A)
c.918G>A (p.Met306Ile)
n.245G>A
c.154G>A
c.813G>A (p.Met271Ile)
3g.14139215G>CCA351536152TMEM43c.*948G>C (n.*948G>C)
c.918G>C (p.Met306Ile)
n.245G>C
c.154G>C
c.813G>C (p.Met271Ile)
3g.14139215G=CA1346972748TMEM43c.*948G= (n.*948G=)
c.918G= (p.Met306=)
n.245G=
c.154G=
c.813G= (p.Met271=)
3g.14139215G>TCA351536153TMEM43c.*948G>T (n.*948G>T)
c.918G>T (p.Met306Ile)
n.245G>T
c.154G>T
c.813G>T (p.Met271Ile)
ClinVar dbSNP gnomAD v4
3g.14139216A>CCA351536154TMEM43c.*949A>C (n.*949A>C)
c.919A>C (p.Lys307Gln)
n.246A>C
c.155A>C
c.814A>C (p.Lys272Gln)
3g.14139216A>GCA351536155TMEM43c.*949A>G (n.*949A>G)
c.919A>G (p.Lys307Glu)
n.246A>G
c.155A>G
c.814A>G (p.Lys272Glu)
3g.14139216A>TCA351536156TMEM43c.*949A>T (n.*949A>T)
c.919A>T (p.Lys307Ter)
n.246A>T
c.155A>T
c.814A>T (p.Lys272Ter)
3g.14139217A>CCA351536157TMEM43c.*950A>C (n.*950A>C)
c.920A>C (p.Lys307Thr)
n.247A>C
c.156A>C
c.815A>C (p.Lys272Thr)
3g.14139217A>GCA351536158TMEM43c.*950A>G (n.*950A>G)
c.920A>G (p.Lys307Arg)
n.247A>G
c.156A>G
c.815A>G (p.Lys272Arg)
3g.14139217A>TCA351536159TMEM43c.*950A>T (n.*950A>T)
c.920A>T (p.Lys307Met)
n.247A>T
c.156A>T
c.815A>T (p.Lys272Met)
3g.14139218G>ACA056267TMEM43c.*951G>A (n.*951G>A)
c.921G>A (p.Lys307=)
n.248G>A
c.157G>A
c.816G>A (p.Lys272=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139218G>CCA351536161TMEM43c.*951G>C (n.*951G>C)
c.921G>C (p.Lys307Asn)
n.248G>C
c.157G>C
c.816G>C (p.Lys272Asn)
3g.14139218G=CA1346972749TMEM43c.*951G= (n.*951G=)
c.921G= (p.Lys307=)
n.248G=
c.157G=
c.816G= (p.Lys272=)
3g.14139218G>TCA351536160TMEM43c.*951G>T (n.*951G>T)
c.921G>T (p.Lys307Asn)
n.248G>T
c.157G>T
c.816G>T (p.Lys272Asn)
3g.14139219A>CCA351536162TMEM43c.*952A>C (n.*952A>C)
c.922A>C (p.Thr308Pro)
n.249A>C
c.158A>C
c.817A>C (p.Thr273Pro)
3g.14139219A>GCA351536163TMEM43c.*952A>G (n.*952A>G)
c.922A>G (p.Thr308Ala)
n.249A>G
c.158A>G
c.817A>G (p.Thr273Ala)
3g.14139219A>TCA351536164TMEM43c.*952A>T (n.*952A>T)
c.922A>T (p.Thr308Ser)
n.249A>T
c.158A>T
c.817A>T (p.Thr273Ser)
3g.14139220C>ACA351536165TMEM43c.*953C>A (n.*953C>A)
c.923C>A (p.Thr308Asn)
n.250C>A
c.159C>A
c.818C>A (p.Thr273Asn)
3g.14139220C>GCA351536166TMEM43c.*953C>G (n.*953C>G)
c.923C>G (p.Thr308Ser)
n.250C>G
c.159C>G
c.818C>G (p.Thr273Ser)
3g.14139220C>TCA351536167TMEM43c.*953C>T (n.*953C>T)
c.923C>T (p.Thr308Ile)
n.250C>T
c.159C>T
c.818C>T (p.Thr273Ile)
ClinVar gnomAD v4
3g.14139221dupCA2664570859TMEM43c.*954dup (n.*954dup)
c.924dup (p.Trp309LeufsTer?)
n.251dup
c.160dup
c.819dup (p.Trp274LeufsTer?)
gnomAD v4
3g.14139220_14139234delinsCCTGGGGCCTGCGGGCA1346972750TMEM43c.*953_*967delinsCCTGGGGCCTGCGGG (n.*953_*967delinsCCTGGGGCCTGCGGG)
c.923_937delinsCCTGGGGCCTGCGGG (p.Thr308=)
n.250_264delinsCCTGGGGCCTGCGGG
c.159_173delinsCCTGGGGCCTGCGGG
c.818_832delinsCCTGGGGCCTGCGGG (p.Thr273=)
3g.14139221C>ACA432552555TMEM43c.*954C>A (n.*954C>A)
c.924C>A (p.Thr308=)
n.251C>A
c.160C>A
c.819C>A (p.Thr273=)
gnomAD v4
3g.14139221C>GCA432552556TMEM43c.*954C>G (n.*954C>G)
c.924C>G (p.Thr308=)
n.251C>G
c.160C>G
c.819C>G (p.Thr273=)
ClinVar gnomAD v4
3g.14139221C>TCA432552557TMEM43c.*954C>T (n.*954C>T)
c.924C>T (p.Thr308=)
n.251C>T
c.160C>T
c.819C>T (p.Thr273=)
ClinVar
3g.14139222_14139235delCA1045264446TMEM43c.*955_*968del (n.*955_*968del)
c.925_938del (p.Trp309SerfsTer?)
n.252_265del
c.161_174del
c.820_833del (p.Trp274SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
3g.14139222T>ACA351536168TMEM43c.*955T>A (n.*955T>A)
c.925T>A (p.Trp309Arg)
n.252T>A
c.161T>A
c.820T>A (p.Trp274Arg)
3g.14139222T>CCA351536169TMEM43c.*955T>C (n.*955T>C)
c.925T>C (p.Trp309Arg)
n.252T>C
c.161T>C
c.820T>C (p.Trp274Arg)
ClinVar
3g.14139222T>GCA351536170TMEM43c.*955T>G (n.*955T>G)
c.925T>G (p.Trp309Gly)
n.252T>G
c.161T>G
c.820T>G (p.Trp274Gly)
dbSNP gnomAD v3 gnomAD v4
3g.14139222T=CA1346972751TMEM43c.*955T= (n.*955T=)
c.925T= (p.Trp309=)
n.252T=
c.161T=
c.820T= (p.Trp274=)
3g.14139223G>ACA351536171TMEM43c.*956G>A (n.*956G>A)
c.926G>A (p.Trp309Ter)
n.253G>A
c.162G>A
c.821G>A (p.Trp274Ter)
gnomAD v4
3g.14139223G>CCA351536172TMEM43c.*956G>C (n.*956G>C)
c.926G>C (p.Trp309Ser)
n.253G>C
c.162G>C
c.821G>C (p.Trp274Ser)
3g.14139223G>TCA351536173TMEM43c.*956G>T (n.*956G>T)
c.926G>T (p.Trp309Leu)
n.253G>T
c.162G>T
c.821G>T (p.Trp274Leu)
3g.14139226delCA2573136053TMEM43c.*959del (n.*959del)
c.929del (p.Gly310AlafsTer17)
n.256del
c.165del
c.824del (p.Gly275AlafsTer17)
ClinVar dbSNP
3g.14139223_14139231delinsGGGGCCTGCCA1346972752TMEM43c.*956_*964delinsGGGGCCTGC (n.*956_*964delinsGGGGCCTGC)
c.926_934delinsGGGGCCTGC (p.Trp309=)
n.253_261delinsGGGGCCTGC
c.162_170delinsGGGGCCTGC
c.821_829delinsGGGGCCTGC (p.Trp274=)
3g.14139224G>ACA351536176TMEM43c.*957G>A (n.*957G>A)
c.927G>A (p.Trp309Ter)
n.254G>A
c.163G>A
c.822G>A (p.Trp274Ter)
3g.14139224G>CCA351536175TMEM43c.*957G>C (n.*957G>C)
c.927G>C (p.Trp309Cys)
n.254G>C
c.163G>C
c.822G>C (p.Trp274Cys)
3g.14139224G>TCA351536174TMEM43c.*957G>T (n.*957G>T)
c.927G>T (p.Trp309Cys)
n.254G>T
c.163G>T
c.822G>T (p.Trp274Cys)
3g.14139228_14139235delCA899784568TMEM43c.*961_*968del (n.*961_*968del)
c.931_938del (p.Leu311SerfsTer?)
n.258_265del
c.167_174del
c.826_833del (p.Leu276SerfsTer?)
ClinVar dbSNP
3g.14139225G>ACA351536177TMEM43c.*958G>A (n.*958G>A)
c.928G>A (p.Gly310Ser)
n.255G>A
c.164G>A
c.823G>A (p.Gly275Ser)
3g.14139225G>CCA351536178TMEM43c.*958G>C (n.*958G>C)
c.928G>C (p.Gly310Arg)
n.255G>C
c.164G>C
c.823G>C (p.Gly275Arg)
3g.14139225G>TCA351536179TMEM43c.*958G>T (n.*958G>T)
c.928G>T (p.Gly310Cys)
n.255G>T
c.164G>T
c.823G>T (p.Gly275Cys)
ClinVar gnomAD v4
3g.14139226G>ACA351536180TMEM43c.*959G>A (n.*959G>A)
c.929G>A (p.Gly310Asp)
n.256G>A
c.165G>A
c.824G>A (p.Gly275Asp)
gnomAD v4
3g.14139226G>CCA351536181TMEM43c.*959G>C (n.*959G>C)
c.929G>C (p.Gly310Ala)
n.256G>C
c.165G>C
c.824G>C (p.Gly275Ala)
3g.14139226G>TCA351536182TMEM43c.*959G>T (n.*959G>T)
c.929G>T (p.Gly310Val)
n.256G>T
c.165G>T
c.824G>T (p.Gly275Val)
ClinVar dbSNP gnomAD v4
3g.14139227C>ACA432552568TMEM43c.*960C>A (n.*960C>A)
c.930C>A (p.Gly310=)
n.257C>A
c.166C>A
c.825C>A (p.Gly275=)
3g.14139227C>GCA432552569TMEM43c.*960C>G (n.*960C>G)
c.930C>G (p.Gly310=)
n.257C>G
c.166C>G
c.825C>G (p.Gly275=)
3g.14139227C>TCA432552570TMEM43c.*960C>T (n.*960C>T)
c.930C>T (p.Gly310=)
n.257C>T
c.166C>T
c.825C>T (p.Gly275=)
3g.14139228C>ACA351536183TMEM43c.*961C>A (n.*961C>A)
c.931C>A (p.Leu311Met)
n.258C>A
c.167C>A
c.826C>A (p.Leu276Met)
3g.14139228C=CA1346972753TMEM43c.*961C= (n.*961C=)
c.931C= (p.Leu311=)
n.258C=
c.167C=
c.826C= (p.Leu276=)
3g.14139228C>GCA351536184TMEM43c.*961C>G (n.*961C>G)
c.931C>G (p.Leu311Val)
n.258C>G
c.167C>G
c.826C>G (p.Leu276Val)
3g.14139228C>TCA432552571TMEM43c.*961C>T (n.*961C>T)
c.931C>T (p.Leu311=)
n.258C>T
c.167C>T
c.826C>T (p.Leu276=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14139229T>ACA351536185TMEM43c.*962T>A (n.*962T>A)
c.932T>A (p.Leu311Gln)
n.259T>A
c.168T>A
c.827T>A (p.Leu276Gln)
3g.14139229T>CCA351536186TMEM43c.*962T>C (n.*962T>C)
c.932T>C (p.Leu311Pro)
n.259T>C
c.168T>C
c.827T>C (p.Leu276Pro)
3g.14139229T>GCA351536187TMEM43c.*962T>G (n.*962T>G)
c.932T>G (p.Leu311Arg)
n.259T>G
c.168T>G
c.827T>G (p.Leu276Arg)
3g.14139230G>ACA432552575TMEM43c.*963G>A (n.*963G>A)
c.933G>A (p.Leu311=)
n.260G>A
c.169G>A
c.828G>A (p.Leu276=)
3g.14139230G>CCA432552576TMEM43c.*963G>C (n.*963G>C)
c.933G>C (p.Leu311=)
n.260G>C
c.169G>C
c.828G>C (p.Leu276=)
3g.14139230G>TCA432552577TMEM43c.*963G>T (n.*963G>T)
c.933G>T (p.Leu311=)
n.260G>T
c.169G>T
c.828G>T (p.Leu276=)
3g.14139231C>ACA432552578TMEM43c.*964C>A (n.*964C>A)
c.934C>A (p.Arg312=)
n.261C>A
c.170C>A
c.829C>A (p.Arg277=)
3g.14139231C=CA1346972754TMEM43c.*964C= (n.*964C=)
c.934C= (p.Arg312=)
n.261C=
c.170C=
c.829C= (p.Arg277=)
3g.14139231C>GCA351536188TMEM43c.*964C>G (n.*964C>G)
c.934C>G (p.Arg312Gly)
n.261C>G
c.170C>G
c.829C>G (p.Arg277Gly)
gnomAD v4
3g.14139231C>TCA024800TMEM43c.*964C>T (n.*964C>T)
c.934C>T (p.Arg312Trp)
n.261C>T
c.170C>T
c.829C>T (p.Arg277Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139232G>ACA69733951TMEM43c.*965G>A (n.*965G>A)
c.935G>A (p.Arg312Gln)
n.262G>A
c.171G>A
c.830G>A (p.Arg277Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14139232G>CCA351536189TMEM43c.*965G>C (n.*965G>C)
c.935G>C (p.Arg312Pro)
n.262G>C
c.171G>C
c.830G>C (p.Arg277Pro)
3g.14139232G=CA1346972755TMEM43c.*965G= (n.*965G=)
c.935G= (p.Arg312=)
n.262G=
c.171G=
c.830G= (p.Arg277=)
3g.14139232G>TCA351536190TMEM43c.*965G>T (n.*965G>T)
c.935G>T (p.Arg312Leu)
n.262G>T
c.171G>T
c.830G>T (p.Arg277Leu)
3g.14139233G>ACA432552584TMEM43c.*966G>A (n.*966G>A)
c.936G>A (p.Arg312=)
n.263G>A
c.172G>A
c.831G>A (p.Arg277=)
3g.14139233G>CCA432552583TMEM43c.*966G>C (n.*966G>C)
c.936G>C (p.Arg312=)
n.263G>C
c.172G>C
c.831G>C (p.Arg277=)
3g.14139233G>TCA432552581TMEM43c.*966G>T (n.*966G>T)
c.936G>T (p.Arg312=)
n.263G>T
c.172G>T
c.831G>T (p.Arg277=)
3g.14139234G>ACA351536191TMEM43c.*967G>A (n.*967G>A)
c.937G>A (p.Ala313Thr)
n.264G>A
c.173G>A
c.832G>A (p.Ala278Thr)
ClinVar dbSNP
3g.14139234G>CCA351536192TMEM43c.*967G>C (n.*967G>C)
c.937G>C (p.Ala313Pro)
n.264G>C
c.173G>C
c.832G>C (p.Ala278Pro)
ClinVar
3g.14139234G>TCA351536193TMEM43c.*967G>T (n.*967G>T)
c.937G>T (p.Ala313Ser)
n.264G>T
c.173G>T
c.832G>T (p.Ala278Ser)
3g.14139235C>ACA351536194TMEM43c.*968C>A (n.*968C>A)
c.938C>A (p.Ala313Glu)
n.265C>A
c.174C>A
c.833C>A (p.Ala278Glu)
dbSNP gnomAD v3 gnomAD v4
3g.14139235C=CA1346972756TMEM43c.*968C= (n.*968C=)
c.938C= (p.Ala313=)
n.265C=
c.174C=
c.833C= (p.Ala278=)
3g.14139235C>GCA351536195TMEM43c.*968C>G (n.*968C>G)
c.938C>G (p.Ala313Gly)
n.265C>G
c.174C>G
c.833C>G (p.Ala278Gly)
3g.14139235C>TCA351536196TMEM43c.*968C>T (n.*968C>T)
c.938C>T (p.Ala313Val)
n.265C>T
c.174C>T
c.833C>T (p.Ala278Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14139236A>CCA432552588TMEM43c.*969A>C (n.*969A>C)
c.939A>C (p.Ala313=)
n.266A>C
c.175A>C
c.834A>C (p.Ala278=)
3g.14139236A>GCA432552589TMEM43c.*969A>G (n.*969A>G)
c.939A>G (p.Ala313=)
n.266A>G
c.175A>G
c.834A>G (p.Ala278=)
3g.14139236A>TCA432552590TMEM43c.*969A>T (n.*969A>T)
c.939A>T (p.Ala313=)
n.266A>T
c.175A>T
c.834A>T (p.Ala278=)
3g.14139237G>ACA351536197TMEM43c.*970G>A (n.*970G>A)
c.940G>A (p.Ala314Thr)
n.267G>A
c.176G>A
c.835G>A (p.Ala279Thr)
3g.14139237G>CCA351536198TMEM43c.*970G>C (n.*970G>C)
c.940G>C (p.Ala314Pro)
n.267G>C
c.176G>C
c.835G>C (p.Ala279Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14139237G=CA1346972757TMEM43c.*970G= (n.*970G=)
c.940G= (p.Ala314=)
n.267G=
c.176G=
c.835G= (p.Ala279=)
3g.14139237G>TCA351536199TMEM43c.*970G>T (n.*970G>T)
c.940G>T (p.Ala314Ser)
n.267G>T
c.176G>T
c.835G>T (p.Ala279Ser)
3g.14139238_14139240delCA2577516596TMEM43c.*971_*973del (n.*971_*973del)
c.941_943del (p.Ala314del)
n.268_270del
c.177_179del
c.836_838del (p.Ala279del)
3g.14139238C>ACA351536200TMEM43c.*971C>A (n.*971C>A)
c.941C>A (p.Ala314Asp)
n.268C>A
c.177C>A
c.836C>A (p.Ala279Asp)
3g.14139238C>GCA351536201TMEM43c.*971C>G (n.*971C>G)
c.941C>G (p.Ala314Gly)
n.268C>G
c.177C>G
c.836C>G (p.Ala279Gly)
3g.14139238C>TCA351536202TMEM43c.*971C>T (n.*971C>T)
c.941C>T (p.Ala314Val)
n.268C>T
c.177C>T
c.836C>T (p.Ala279Val)
gnomAD v4
3g.14139239T>ACA432552595TMEM43c.*972T>A (n.*972T>A)
c.942T>A (p.Ala314=)
n.269T>A
c.178T>A
c.837T>A (p.Ala279=)
3g.14139239T>CCA432552600TMEM43c.*972T>C (n.*972T>C)
c.942T>C (p.Ala314=)
n.269T>C
c.178T>C
c.837T>C (p.Ala279=)
3g.14139239T>GCA432552596TMEM43c.*972T>G (n.*972T>G)
c.942T>G (p.Ala314=)
n.269T>G
c.178T>G
c.837T>G (p.Ala279=)
3g.14139240G>ACA351536204TMEM43c.*973G>A (n.*973G>A)
c.943G>A (p.Gly315Ser)
n.270G>A
c.179G>A
c.838G>A (p.Gly280Ser)
COSMIC
3g.14139240G>CCA351536205TMEM43c.*973G>C (n.*973G>C)
c.943G>C (p.Gly315Arg)
n.270G>C
c.179G>C
c.838G>C (p.Gly280Arg)
3g.14139240G>TCA351536203TMEM43c.*973G>T (n.*973G>T)
c.943G>T (p.Gly315Cys)
n.270G>T
c.179G>T
c.838G>T (p.Gly280Cys)
3g.14139241G>ACA351536206TMEM43c.*974G>A (n.*974G>A)
c.944G>A (p.Gly315Asp)
n.271G>A
c.180G>A
c.839G>A (p.Gly280Asp)
3g.14139241G>CCA351536208TMEM43c.*974G>C (n.*974G>C)
c.944G>C (p.Gly315Ala)
n.271G>C
c.180G>C
c.839G>C (p.Gly280Ala)
dbSNP
3g.14139241G=CA1346972758TMEM43c.*974G= (n.*974G=)
c.944G= (p.Gly315=)
n.271G=
c.180G=
c.839G= (p.Gly280=)
3g.14139241G>TCA351536207TMEM43c.*974G>T (n.*974G>T)
c.944G>T (p.Gly315Val)
n.271G>T
c.180G>T
c.839G>T (p.Gly280Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14139242C>ACA432552602TMEM43c.*975C>A (n.*975C>A)
c.945C>A (p.Gly315=)
n.272C>A
c.181C>A
c.840C>A (p.Gly280=)
3g.14139242C>GCA432552603TMEM43c.*975C>G (n.*975C>G)
c.945C>G (p.Gly315=)
n.272C>G
c.181C>G
c.840C>G (p.Gly280=)
3g.14139242C>TCA432552604TMEM43c.*975C>T (n.*975C>T)
c.945C>T (p.Gly315=)
n.272C>T
c.181C>T
c.840C>T (p.Gly280=)
gnomAD v4
3g.14139243T>ACA056279TMEM43c.*976T>A (n.*976T>A)
c.946T>A (p.Trp316Arg)
n.273T>A
c.182T>A
c.841T>A (p.Trp281Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.14139243T>CCA351536210TMEM43c.*976T>C (n.*976T>C)
c.946T>C (p.Trp316Arg)
n.273T>C
c.182T>C
c.841T>C (p.Trp281Arg)
gnomAD v4
3g.14139243T>GCA351536209TMEM43c.*976T>G (n.*976T>G)
c.946T>G (p.Trp316Gly)
n.273T>G
c.182T>G
c.841T>G (p.Trp281Gly)
3g.14139243T=CA1346972759TMEM43c.*976T= (n.*976T=)
c.946T= (p.Trp316=)
n.273T=
c.182T=
c.841T= (p.Trp281=)
3g.14139244G>ACA351536211TMEM43c.*977G>A (n.*977G>A)
c.947G>A (p.Trp316Ter)
n.274G>A
c.183G>A
c.842G>A (p.Trp281Ter)
3g.14139244G>CCA024803TMEM43c.*977G>C (n.*977G>C)
c.947G>C (p.Trp316Ser)
n.274G>C
c.183G>C
c.842G>C (p.Trp281Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139244G=CA1346972760TMEM43c.*977G= (n.*977G=)
c.947G= (p.Trp316=)
n.274G=
c.183G=
c.842G= (p.Trp281=)
3g.14139244G>TCA351536212TMEM43c.*977G>T (n.*977G>T)
c.947G>T (p.Trp316Leu)
n.274G>T
c.183G>T
c.842G>T (p.Trp281Leu)
3g.14139245G>ACA351536213TMEM43c.*978G>A (n.*978G>A)
c.948G>A (p.Trp316Ter)
n.275G>A
c.184G>A
c.843G>A (p.Trp281Ter)
3g.14139245G>CCA351536214TMEM43c.*978G>C (n.*978G>C)
c.948G>C (p.Trp316Cys)
n.275G>C
c.184G>C
c.843G>C (p.Trp281Cys)
3g.14139245G>TCA351536215TMEM43c.*978G>T (n.*978G>T)
c.948G>T (p.Trp316Cys)
n.275G>T
c.184G>T
c.843G>T (p.Trp281Cys)
3g.14139246A>CCA351536216TMEM43c.*979A>C (n.*979A>C)
c.949A>C (p.Met317Leu)
n.276A>C
c.185A>C
c.844A>C (p.Met282Leu)
3g.14139246A>GCA351536217TMEM43c.*979A>G (n.*979A>G)
c.949A>G (p.Met317Val)
n.276A>G
c.185A>G
c.844A>G (p.Met282Val)
3g.14139246A>TCA351536218TMEM43c.*979A>T (n.*979A>T)
c.949A>T (p.Met317Leu)
n.276A>T
c.185A>T
c.844A>T (p.Met282Leu)
3g.14139247T>ACA351536219TMEM43c.*980T>A (n.*980T>A)
c.950T>A (p.Met317Lys)
n.277T>A
c.186T>A
c.845T>A (p.Met282Lys)
3g.14139247T>CCA351536220TMEM43c.*980T>C (n.*980T>C)
c.950T>C (p.Met317Thr)
n.277T>C
c.186T>C
c.845T>C (p.Met282Thr)
gnomAD v4
3g.14139247T>GCA351536221TMEM43c.*980T>G (n.*980T>G)
c.950T>G (p.Met317Arg)
n.277T>G
c.186T>G
c.845T>G (p.Met282Arg)
3g.14139248G>ACA351536222TMEM43c.*981G>A (n.*981G>A)
c.951G>A (p.Met317Ile)
n.278G>A
c.187G>A
c.846G>A (p.Met282Ile)
3g.14139248G>CCA351536224TMEM43c.*981G>C (n.*981G>C)
c.951G>C (p.Met317Ile)
n.278G>C
c.187G>C
c.846G>C (p.Met282Ile)
3g.14139248G>TCA351536223TMEM43c.*981G>T (n.*981G>T)
c.951G>T (p.Met317Ile)
n.278G>T
c.187G>T
c.846G>T (p.Met282Ile)
3g.14139249G>ACA351536225TMEM43c.*982G>A (n.*982G>A)
c.952G>A (p.Ala318Thr)
n.279G>A
c.188G>A
c.847G>A (p.Ala283Thr)
3g.14139249G>CCA351536226TMEM43c.*982G>C (n.*982G>C)
c.952G>C (p.Ala318Pro)
n.279G>C
c.188G>C
c.847G>C (p.Ala283Pro)
dbSNP gnomAD v2 gnomAD v4
3g.14139249G=CA1346972761TMEM43c.*982G= (n.*982G=)
c.952G= (p.Ala318=)
n.279G=
c.188G=
c.847G= (p.Ala283=)
3g.14139249G>TCA351536227TMEM43c.*982G>T (n.*982G>T)
c.952G>T (p.Ala318Ser)
n.279G>T
c.188G>T
c.847G>T (p.Ala283Ser)
3g.14139250C>ACA351536228TMEM43c.*983C>A (n.*983C>A)
c.953C>A (p.Ala318Asp)
n.280C>A
c.189C>A
c.848C>A (p.Ala283Asp)
3g.14139250C=CA1346972762TMEM43c.*983C= (n.*983C=)
c.953C= (p.Ala318=)
n.280C=
c.189C=
c.848C= (p.Ala283=)
3g.14139250C>GCA351536229TMEM43c.*983C>G (n.*983C>G)
c.953C>G (p.Ala318Gly)
n.280C>G
c.189C>G
c.848C>G (p.Ala283Gly)
3g.14139250C>TCA024805TMEM43c.*983C>T (n.*983C>T)
c.953C>T (p.Ala318Val)
n.280C>T
c.189C>T
c.848C>T (p.Ala283Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139251C>ACA432552616TMEM43c.*984C>A (n.*984C>A)
c.954C>A (p.Ala318=)
n.281C>A
c.190C>A
c.849C>A (p.Ala283=)
3g.14139251C>GCA432552617TMEM43c.*984C>G (n.*984C>G)
c.954C>G (p.Ala318=)
n.281C>G
c.190C>G
c.849C>G (p.Ala283=)
3g.14139251C>TCA432552618TMEM43c.*984C>T (n.*984C>T)
c.954C>T (p.Ala318=)
n.281C>T
c.190C>T
c.849C>T (p.Ala283=)
3g.14139255_14139260delCA2577516597TMEM43c.*988_*993del (n.*988_*993del)
c.958_963del (p.Phe320_Met321del)
n.285_290del
c.194_199del
c.853_858del (p.Phe285_Met286del)
3g.14139252A>CCA351536230TMEM43c.*985A>C (n.*985A>C)
c.955A>C (p.Met319Leu)
n.282A>C
c.191A>C
c.850A>C (p.Met284Leu)
3g.14139252A>GCA351536231TMEM43c.*985A>G (n.*985A>G)
c.955A>G (p.Met319Val)
n.282A>G
c.191A>G
c.850A>G (p.Met284Val)
ClinVar gnomAD v4
3g.14139252A>TCA351536232TMEM43c.*985A>T (n.*985A>T)
c.955A>T (p.Met319Leu)
n.282A>T
c.191A>T
c.850A>T (p.Met284Leu)
3g.14139253T>ACA351536234TMEM43c.*986T>A (n.*986T>A)
c.956T>A (p.Met319Lys)
n.283T>A
c.192T>A
c.851T>A (p.Met284Lys)
3g.14139253T>CCA056306TMEM43c.*986T>C (n.*986T>C)
c.956T>C (p.Met319Thr)
n.283T>C
c.192T>C
c.851T>C (p.Met284Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139253T>GCA351536233TMEM43c.*986T>G (n.*986T>G)
c.956T>G (p.Met319Arg)
n.283T>G
c.192T>G
c.851T>G (p.Met284Arg)
dbSNP gnomAD v2 gnomAD v4
3g.14139253T=CA1346972763TMEM43c.*986T= (n.*986T=)
c.956T= (p.Met319=)
n.283T=
c.192T=
c.851T= (p.Met284=)
3g.14139254G>ACA351536235TMEM43c.*987G>A (n.*987G>A)
c.957G>A (p.Met319Ile)
n.284G>A
c.193G>A
c.852G>A (p.Met284Ile)
3g.14139254G>CCA351536236TMEM43c.*987G>C (n.*987G>C)
c.957G>C (p.Met319Ile)
n.284G>C
c.193G>C
c.852G>C (p.Met284Ile)
3g.14139254G>TCA351536237TMEM43c.*987G>T (n.*987G>T)
c.957G>T (p.Met319Ile)
n.284G>T
c.193G>T
c.852G>T (p.Met284Ile)
3g.14139255T>ACA351536238TMEM43c.*988T>A (n.*988T>A)
c.958T>A (p.Phe320Ile)
n.285T>A
c.194T>A
c.853T>A (p.Phe285Ile)
3g.14139255T>CCA351536239TMEM43c.*988T>C (n.*988T>C)
c.958T>C (p.Phe320Leu)
n.285T>C
c.194T>C
c.853T>C (p.Phe285Leu)
3g.14139255T>GCA351536240TMEM43c.*988T>G (n.*988T>G)
c.958T>G (p.Phe320Val)
n.285T>G
c.194T>G
c.853T>G (p.Phe285Val)
3g.14139256T>ACA351536241TMEM43c.*989T>A (n.*989T>A)
c.959T>A (p.Phe320Tyr)
n.286T>A
c.195T>A
c.854T>A (p.Phe285Tyr)
3g.14139256T>CCA351536242TMEM43c.*989T>C (n.*989T>C)
c.959T>C (p.Phe320Ser)
n.286T>C
c.195T>C
c.854T>C (p.Phe285Ser)
3g.14139256T>GCA69733957TMEM43c.*989T>G (n.*989T>G)
c.959T>G (p.Phe320Cys)
n.286T>G
c.195T>G
c.854T>G (p.Phe285Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14139256T=CA1346972764TMEM43c.*989T= (n.*989T=)
c.959T= (p.Phe320=)
n.286T=
c.195T=
c.854T= (p.Phe285=)
3g.14139257C>ACA351536243TMEM43c.*990C>A (n.*990C>A)
c.960C>A (p.Phe320Leu)
n.287C>A
c.196C>A
c.855C>A (p.Phe285Leu)
gnomAD v4
3g.14139257C>GCA351536244TMEM43c.*990C>G (n.*990C>G)
c.960C>G (p.Phe320Leu)
n.287C>G
c.196C>G
c.855C>G (p.Phe285Leu)
3g.14139257C>TCA432552626TMEM43c.*990C>T (n.*990C>T)
c.960C>T (p.Phe320=)
n.287C>T
c.196C>T
c.855C>T (p.Phe285=)
3g.14139258A=CA1346972765TMEM43c.*991A= (n.*991A=)
c.961A= (p.Met321=)
n.288A=
c.197A=
c.856A= (p.Met286=)
3g.14139258A>CCA351536246TMEM43c.*991A>C (n.*991A>C)
c.961A>C (p.Met321Leu)
n.288A>C
c.197A>C
c.856A>C (p.Met286Leu)
3g.14139258A>GCA024808TMEM43c.*991A>G (n.*991A>G)
c.961A>G (p.Met321Val)
n.288A>G
c.197A>G
c.856A>G (p.Met286Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14139258A>TCA351536245TMEM43c.*991A>T (n.*991A>T)
c.961A>T (p.Met321Leu)
n.288A>T
c.197A>T
c.856A>T (p.Met286Leu)
3g.14139259T>ACA351536247TMEM43c.*992T>A (n.*992T>A)
c.962T>A (p.Met321Lys)
n.289T>A
c.198T>A
c.857T>A (p.Met286Lys)
3g.14139259T>CCA351536248TMEM43c.*992T>C (n.*992T>C)
c.962T>C (p.Met321Thr)
n.289T>C
c.198T>C
c.857T>C (p.Met286Thr)
3g.14139259T>GCA351536249TMEM43c.*992T>G (n.*992T>G)
c.962T>G (p.Met321Arg)
n.289T>G
c.198T>G
c.857T>G (p.Met286Arg)
3g.14139260G>ACA351536250TMEM43c.*993G>A (n.*993G>A)
c.963G>A (p.Met321Ile)
n.290G>A
c.199G>A
c.858G>A (p.Met286Ile)
3g.14139260G>CCA351536251TMEM43c.*993G>C (n.*993G>C)
c.963G>C (p.Met321Ile)
n.290G>C
c.199G>C
c.858G>C (p.Met286Ile)
dbSNP
3g.14139260G=CA1346972766TMEM43c.*993G= (n.*993G=)
c.963G= (p.Met321=)
n.290G=
c.199G=
c.858G= (p.Met286=)
3g.14139260G>TCA351536252TMEM43c.*993G>T (n.*993G>T)
c.963G>T (p.Met321Ile)
n.290G>T
c.199G>T
c.858G>T (p.Met286Ile)
3g.14139261G>ACA351536253TMEM43c.*994G>A (n.*994G>A)
c.964G>A (p.Gly322Ser)
n.291G>A
c.200G>A
c.859G>A (p.Gly287Ser)
ClinVar dbSNP
3g.14139261G>CCA351536254TMEM43c.*994G>C (n.*994G>C)
c.964G>C (p.Gly322Arg)
n.291G>C
c.200G>C
c.859G>C (p.Gly287Arg)
dbSNP gnomAD v3 gnomAD v4
3g.14139261G=CA1346972767TMEM43c.*994G= (n.*994G=)
c.964G= (p.Gly322=)
n.291G=
c.200G=
c.859G= (p.Gly287=)
3g.14139261G>TCA351536255TMEM43c.*994G>T (n.*994G>T)
c.964G>T (p.Gly322Cys)
n.291G>T
c.200G>T
c.859G>T (p.Gly287Cys)
3g.14139262G>ACA351536256TMEM43c.*995G>A (n.*995G>A)
c.965G>A (p.Gly322Asp)
n.292G>A
c.201G>A
c.860G>A (p.Gly287Asp)
3g.14139262G>CCA351536257TMEM43c.*995G>C (n.*995G>C)
c.965G>C (p.Gly322Ala)
n.292G>C
c.201G>C
c.860G>C (p.Gly287Ala)
gnomAD v4
3g.14139262G=CA1346972768TMEM43c.*995G= (n.*995G=)
c.965G= (p.Gly322=)
n.292G=
c.201G=
c.860G= (p.Gly287=)
3g.14139262G>TCA351536258TMEM43c.*995G>T (n.*995G>T)
c.965G>T (p.Gly322Val)
n.292G>T
c.201G>T
c.860G>T (p.Gly287Val)
ClinVar dbSNP
3g.14139263C>ACA432552637TMEM43c.*996C>A (n.*996C>A)
c.966C>A (p.Gly322=)
n.293C>A
c.202C>A
c.861C>A (p.Gly287=)
3g.14139263C=CA1346972769TMEM43c.*996C= (n.*996C=)
c.966C= (p.Gly322=)
n.293C=
c.202C=
c.861C= (p.Gly287=)
3g.14139263C>GCA432552638TMEM43c.*996C>G (n.*996C>G)
c.966C>G (p.Gly322=)
n.293C>G
c.202C>G
c.861C>G (p.Gly287=)
3g.14139263C>TCA432552639TMEM43c.*996C>T (n.*996C>T)
c.966C>T (p.Gly322=)
n.293C>T
c.202C>T
c.861C>T (p.Gly287=)
dbSNP gnomAD v4
3g.14139264C>ACA351536260TMEM43c.*997C>A (n.*997C>A)
c.967C>A (p.Leu323Ile)
n.294C>A
c.203C>A
c.862C>A (p.Leu288Ile)
3g.14139264C>GCA351536261TMEM43c.*997C>G (n.*997C>G)
c.967C>G (p.Leu323Val)
n.294C>G
c.203C>G
c.862C>G (p.Leu288Val)
gnomAD v4
3g.14139264C>TCA351536259TMEM43c.*997C>T (n.*997C>T)
c.967C>T (p.Leu323Phe)
n.294C>T
c.203C>T
c.862C>T (p.Leu288Phe)
COSMIC
3g.14139265T>ACA351536264TMEM43c.*998T>A (n.*998T>A)
c.968T>A (p.Leu323His)
n.295T>A
c.204T>A
c.863T>A (p.Leu288His)
3g.14139265T>CCA351536262TMEM43c.*998T>C (n.*998T>C)
c.968T>C (p.Leu323Pro)
n.295T>C
c.204T>C
c.863T>C (p.Leu288Pro)
3g.14139265T>GCA351536263TMEM43c.*998T>G (n.*998T>G)
c.968T>G (p.Leu323Arg)
n.295T>G
c.204T>G
c.863T>G (p.Leu288Arg)
3g.14139266C>ACA432552642TMEM43c.*999C>A (n.*999C>A)
c.969C>A (p.Leu323=)
n.296C>A
c.205C>A
c.864C>A (p.Leu288=)
dbSNP gnomAD v4
3g.14139266C=CA1346972770TMEM43c.*999C= (n.*999C=)
c.969C= (p.Leu323=)
n.296C=
c.205C=
c.864C= (p.Leu288=)
3g.14139266C>GCA432552644TMEM43c.*999C>G (n.*999C>G)
c.969C>G (p.Leu323=)
n.296C>G
c.205C>G
c.864C>G (p.Leu288=)
3g.14139266C>TCA432552645TMEM43c.*999C>T (n.*999C>T)
c.969C>T (p.Leu323=)
n.296C>T
c.205C>T
c.864C>T (p.Leu288=)
3g.14139266_14139267delinsCACA1346972771TMEM43c.*999_*1000delinsCA (n.*999_*1000delinsCA)
c.969_970delinsCA (p.Leu323=)
n.296_297delinsCA
c.205_206delinsCA
c.864_865delinsCA (p.Leu288=)
3g.14139267A=CA1346972772TMEM43c.*1000A= (n.*1000A=)
c.970A= (p.Asn324=)
n.297A=
c.206A=
c.865A= (p.Asn289=)
3g.14139267A>CCA351536265TMEM43c.*1000A>C (n.*1000A>C)
c.970A>C (p.Asn324His)
n.297A>C
c.206A>C
c.865A>C (p.Asn289His)
3g.14139267A>GCA351536266TMEM43c.*1000A>G (n.*1000A>G)
c.970A>G (p.Asn324Asp)
n.297A>G
c.206A>G
c.865A>G (p.Asn289Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14139267A>TCA351536267TMEM43c.*1000A>T (n.*1000A>T)
c.970A>T (p.Asn324Tyr)
n.297A>T
c.206A>T
c.865A>T (p.Asn289Tyr)
3g.14139268delCA658796248TMEM43c.*1001del (n.*1001del)
c.971del (p.Asn324ThrfsTer3)
n.298del
c.207del
c.866del (p.Asn289ThrfsTer3)
ClinVar dbSNP gnomAD v4
3g.14139268A>CCA351536268TMEM43c.*1001A>C (n.*1001A>C)
c.971A>C (p.Asn324Thr)
n.298A>C
c.207A>C
c.866A>C (p.Asn289Thr)
3g.14139268A>GCA351536269TMEM43c.*1001A>G (n.*1001A>G)
c.971A>G (p.Asn324Ser)
n.298A>G
c.207A>G
c.866A>G (p.Asn289Ser)
ClinVar
3g.14139268A>TCA351536270TMEM43c.*1001A>T (n.*1001A>T)
c.971A>T (p.Asn324Ile)
n.298A>T
c.207A>T
c.866A>T (p.Asn289Ile)
ClinVar
3g.14139269C>ACA351536271TMEM43c.*1002C>A (n.*1002C>A)
c.972C>A (p.Asn324Lys)
n.299C>A
c.208C>A
c.867C>A (p.Asn289Lys)
3g.14139269C=CA1346972773TMEM43c.*1002C= (n.*1002C=)
c.972C= (p.Asn324=)
n.299C=
c.208C=
c.867C= (p.Asn289=)
3g.14139269C>GCA351536272TMEM43c.*1002C>G (n.*1002C>G)
c.972C>G (p.Asn324Lys)
n.299C>G
c.208C>G
c.867C>G (p.Asn289Lys)
3g.14139269C>TCA056316TMEM43c.*1002C>T (n.*1002C>T)
c.972C>T (p.Asn324=)
n.299C>T
c.208C>T
c.867C>T (p.Asn289=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.14139270C>ACA351536274TMEM43c.*1003C>A (n.*1003C>A)
c.973C>A (p.Leu325Ile)
n.300C>A
c.209C>A
c.868C>A (p.Leu290Ile)
gnomAD v4
3g.14139270C=CA1346972774TMEM43c.*1003C= (n.*1003C=)
c.973C= (p.Leu325=)
n.300C=
c.209C=
c.868C= (p.Leu290=)
3g.14139270C>GCA351536273TMEM43c.*1003C>G (n.*1003C>G)
c.973C>G (p.Leu325Val)
n.300C>G
c.209C>G
c.868C>G (p.Leu290Val)
3g.14139270C>TCA056324TMEM43c.*1003C>T (n.*1003C>T)
c.973C>T (p.Leu325Phe)
n.300C>T
c.209C>T
c.868C>T (p.Leu290Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139271T>ACA351536275TMEM43c.*1004T>A (n.*1004T>A)
c.974T>A (p.Leu325His)
n.301T>A
c.210T>A
c.869T>A (p.Leu290His)
3g.14139271T>CCA351536276TMEM43c.*1004T>C (n.*1004T>C)
c.974T>C (p.Leu325Pro)
n.301T>C
c.210T>C
c.869T>C (p.Leu290Pro)
3g.14139271T>GCA351536277TMEM43c.*1004T>G (n.*1004T>G)
c.974T>G (p.Leu325Arg)
n.301T>G
c.210T>G
c.869T>G (p.Leu290Arg)
3g.14139272T>ACA432552651TMEM43c.*1005T>A (n.*1005T>A)
c.975T>A (p.Leu325=)
n.302T>A
c.211T>A
c.870T>A (p.Leu290=)
3g.14139272T>CCA432552652TMEM43c.*1005T>C (n.*1005T>C)
c.975T>C (p.Leu325=)
n.302T>C
c.211T>C
c.870T>C (p.Leu290=)
3g.14139272T>GCA432552654TMEM43c.*1005T>G (n.*1005T>G)
c.975T>G (p.Leu325=)
n.302T>G
c.211T>G
c.870T>G (p.Leu290=)
3g.14139273A>CCA351536278TMEM43c.*1006A>C (n.*1006A>C)
c.976A>C (p.Met326Leu)
n.303A>C
c.212A>C
c.871A>C (p.Met291Leu)
3g.14139273A>GCA351536279TMEM43c.*1006A>G (n.*1006A>G)
c.976A>G (p.Met326Val)
n.303A>G
c.212A>G
c.871A>G (p.Met291Val)
3g.14139273A>TCA351536280TMEM43c.*1006A>T (n.*1006A>T)
c.976A>T (p.Met326Leu)
n.303A>T
c.212A>T
c.871A>T (p.Met291Leu)
3g.14139273dupCA2664570860TMEM43c.*1006dup (n.*1006dup)
c.976dup (p.Met326AsnfsTer?)
n.303dup
c.212dup
c.871dup (p.Met291AsnfsTer?)
gnomAD v4
3g.14139274T>ACA351536281TMEM43c.*1007T>A (n.*1007T>A)
c.977T>A (p.Met326Lys)
n.304T>A
c.213T>A
c.872T>A (p.Met291Lys)
ClinVar
3g.14139274T>CCA056336TMEM43c.*1007T>C (n.*1007T>C)
c.977T>C (p.Met326Thr)
n.304T>C
c.213T>C
c.872T>C (p.Met291Thr)
dbSNP ExAC gnomAD v4
3g.14139274T>GCA351536282TMEM43c.*1007T>G (n.*1007T>G)
c.977T>G (p.Met326Arg)
n.304T>G
c.213T>G
c.872T>G (p.Met291Arg)
3g.14139274T=CA1346972775TMEM43c.*1007T= (n.*1007T=)
c.977T= (p.Met326=)
n.304T=
c.213T=
c.872T= (p.Met291=)
3g.14139275G>ACA351536283TMEM43c.*1008G>A (n.*1008G>A)
c.978G>A (p.Met326Ile)
n.305G>A
c.214G>A
c.873G>A (p.Met291Ile)
3g.14139275G>CCA351536284TMEM43c.*1008G>C (n.*1008G>C)
c.978G>C (p.Met326Ile)
n.305G>C
c.214G>C
c.873G>C (p.Met291Ile)
3g.14139275G=CA1346972776TMEM43c.*1008G= (n.*1008G=)
c.978G= (p.Met326=)
n.305G=
c.214G=
c.873G= (p.Met291=)
3g.14139275G>TCA351536285TMEM43c.*1008G>T (n.*1008G>T)
c.978G>T (p.Met326Ile)
n.305G>T
c.214G>T
c.873G>T (p.Met291Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14139276A>CCA351536287TMEM43c.*1009A>C (n.*1009A>C)
c.979A>C (p.Thr327Pro)
n.306A>C
c.215A>C
c.874A>C (p.Thr292Pro)
3g.14139276A>GCA351536288TMEM43c.*1009A>G (n.*1009A>G)
c.979A>G (p.Thr327Ala)
n.306A>G
c.215A>G
c.874A>G (p.Thr292Ala)
3g.14139276A>TCA351536286TMEM43c.*1009A>T (n.*1009A>T)
c.979A>T (p.Thr327Ser)
n.306A>T
c.215A>T
c.874A>T (p.Thr292Ser)
3g.14139277C>ACA351536289TMEM43c.*1010C>A (n.*1010C>A)
c.980C>A (p.Thr327Lys)
n.307C>A
c.216C>A
c.875C>A (p.Thr292Lys)
gnomAD v4
3g.14139277C=CA1346972777TMEM43c.*1010C= (n.*1010C=)
c.980C= (p.Thr327=)
n.307C=
c.216C=
c.875C= (p.Thr292=)
3g.14139277C>GCA056347TMEM43c.*1010C>G (n.*1010C>G)
c.980C>G (p.Thr327Arg)
n.307C>G
c.216C>G
c.875C>G (p.Thr292Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139277C>TCA351536290TMEM43c.*1010C>T (n.*1010C>T)
c.980C>T (p.Thr327Ile)
n.307C>T
c.216C>T
c.875C>T (p.Thr292Ile)
3g.14139278A=CA1346972778TMEM43c.*1011A= (n.*1011A=)
c.981A= (p.Thr327=)
n.308A=
c.217A=
c.876A= (p.Thr292=)
3g.14139278A>CCA432552657TMEM43c.*1011A>C (n.*1011A>C)
c.981A>C (p.Thr327=)
n.308A>C
c.217A>C
c.876A>C (p.Thr292=)
3g.14139278A>GCA056357TMEM43c.*1011A>G (n.*1011A>G)
c.981A>G (p.Thr327=)
n.308A>G
c.217A>G
c.876A>G (p.Thr292=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139278A>TCA432552658TMEM43c.*1011A>T (n.*1011A>T)
c.981A>T (p.Thr327=)
n.308A>T
c.217A>T
c.876A>T (p.Thr292=)
3g.14139279C>ACA432552660TMEM43c.*1012C>A (n.*1012C>A)
c.982C>A (p.Arg328=)
n.309C>A
c.218C>A
c.877C>A (p.Arg293=)
ClinVar dbSNP gnomAD v4
3g.14139279C=CA1346972779TMEM43c.*1012C= (n.*1012C=)
c.982C= (p.Arg328=)
n.309C=
c.218C=
c.877C= (p.Arg293=)
3g.14139279C>GCA351536291TMEM43c.*1012C>G (n.*1012C>G)
c.982C>G (p.Arg328Gly)
n.309C>G
c.218C>G
c.877C>G (p.Arg293Gly)
3g.14139279C>TCA056368TMEM43c.*1012C>T (n.*1012C>T)
c.982C>T (p.Arg328Trp)
n.309C>T
c.218C>T
c.877C>T (p.Arg293Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.14139280G>ACA056378TMEM43c.*1013G>A (n.*1013G>A)
c.983G>A (p.Arg328Gln)
n.310G>A
c.219G>A
c.878G>A (p.Arg293Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139280G>CCA351536292TMEM43c.*1013G>C (n.*1013G>C)
c.983G>C (p.Arg328Pro)
n.310G>C
c.219G>C
c.878G>C (p.Arg293Pro)
3g.14139280G=CA1346972780TMEM43c.*1013G= (n.*1013G=)
c.983G= (p.Arg328=)
n.310G=
c.219G=
c.878G= (p.Arg293=)
3g.14139280G>TCA351536293TMEM43c.*1013G>T (n.*1013G>T)
c.983G>T (p.Arg328Leu)
n.310G>T
c.219G>T
c.878G>T (p.Arg293Leu)
3g.14139281G>ACA432552661TMEM43c.*1014G>A (n.*1014G>A)
c.984G>A (p.Arg328=)
n.311G>A
c.220G>A
c.879G>A (p.Arg293=)
ClinVar dbSNP
3g.14139281G>CCA432552662TMEM43c.*1014G>C (n.*1014G>C)
c.984G>C (p.Arg328=)
n.311G>C
c.220G>C
c.879G>C (p.Arg293=)
3g.14139281G>TCA432552663TMEM43c.*1014G>T (n.*1014G>T)
c.984G>T (p.Arg328=)
n.311G>T
c.220G>T
c.879G>T (p.Arg293=)
3g.14139282A=CA1346972781TMEM43c.*1015A= (n.*1015A=)
c.985A= (p.Ile329=)
n.312A=
c.221A=
c.880A= (p.Ile294=)
3g.14139282A>CCA16611187TMEM43c.*1015A>C (n.*1015A>C)
c.985A>C (p.Ile329Leu)
n.312A>C
c.221A>C
c.880A>C (p.Ile294Leu)
ClinVar dbSNP
3g.14139282A>GCA351536294TMEM43c.*1015A>G (n.*1015A>G)
c.985A>G (p.Ile329Val)
n.312A>G
c.221A>G
c.880A>G (p.Ile294Val)
3g.14139282A>TCA351536295TMEM43c.*1015A>T (n.*1015A>T)
c.985A>T (p.Ile329Phe)
n.312A>T
c.221A>T
c.880A>T (p.Ile294Phe)
3g.14139283T>ACA351536297TMEM43c.*1016T>A (n.*1016T>A)
c.986T>A (p.Ile329Asn)
n.313T>A
c.222T>A
c.881T>A (p.Ile294Asn)
gnomAD v4
3g.14139283T>CCA351536298TMEM43c.*1016T>C (n.*1016T>C)
c.986T>C (p.Ile329Thr)
n.313T>C
c.222T>C
c.881T>C (p.Ile294Thr)
3g.14139283T>GCA351536296TMEM43c.*1016T>G (n.*1016T>G)
c.986T>G (p.Ile329Ser)
n.313T>G
c.222T>G
c.881T>G (p.Ile294Ser)
3g.14139284C>ACA432552665TMEM43c.*1017C>A (n.*1017C>A)
c.987C>A (p.Ile329=)
n.314C>A
c.223C>A
c.882C>A (p.Ile294=)
gnomAD v4
3g.14139284C>GCA351536299TMEM43c.*1017C>G (n.*1017C>G)
c.987C>G (p.Ile329Met)
n.314C>G
c.223C>G
c.882C>G (p.Ile294Met)
3g.14139284C>TCA432552666TMEM43c.*1017C>T (n.*1017C>T)
c.987C>T (p.Ile329=)
n.314C>T
c.223C>T
c.882C>T (p.Ile294=)
3g.14139285C>ACA351536300TMEM43c.*1018C>A (n.*1018C>A)
c.988C>A (p.Leu330Ile)
n.315C>A
c.224C>A
c.883C>A (p.Leu295Ile)
3g.14139285C>GCA351536301TMEM43c.*1018C>G (n.*1018C>G)
c.988C>G (p.Leu330Val)
n.315C>G
c.224C>G
c.883C>G (p.Leu295Val)
gnomAD v4
3g.14139285C>TCA351536302TMEM43c.*1018C>T (n.*1018C>T)
c.988C>T (p.Leu330Phe)
n.315C>T
c.224C>T
c.883C>T (p.Leu295Phe)
gnomAD v4
3g.14139286T>ACA351536303TMEM43c.*1019T>A (n.*1019T>A)
c.989T>A (p.Leu330His)
n.316T>A
c.225T>A
c.884T>A (p.Leu295His)
gnomAD v4
3g.14139286T>CCA351536304TMEM43c.*1019T>C (n.*1019T>C)
c.989T>C (p.Leu330Pro)
n.316T>C
c.225T>C
c.884T>C (p.Leu295Pro)
3g.14139286T>GCA351536305TMEM43c.*1019T>G (n.*1019T>G)
c.989T>G (p.Leu330Arg)
n.316T>G
c.225T>G
c.884T>G (p.Leu295Arg)
3g.14139287C>ACA432552670TMEM43c.*1020C>A (n.*1020C>A)
c.990C>A (p.Leu330=)
n.317C>A
c.226C>A
c.885C>A (p.Leu295=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14139287C=CA1346972782TMEM43c.*1020C= (n.*1020C=)
c.990C= (p.Leu330=)
n.317C=
c.226C=
c.885C= (p.Leu295=)
3g.14139287C>GCA056399TMEM43c.*1020C>G (n.*1020C>G)
c.990C>G (p.Leu330=)
n.317C>G
c.226C>G
c.885C>G (p.Leu295=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139287C>TCA056404TMEM43c.*1020C>T (n.*1020C>T)
c.990C>T (p.Leu330=)
n.317C>T
c.226C>T
c.885C>T (p.Leu295=)
ClinVar dbSNP ExAC gnomAD v4 COSMIC
3g.14139288T>ACA351536306TMEM43c.*1021T>A (n.*1021T>A)
c.991T>A (p.Tyr331Asn)
n.318T>A
c.227T>A
c.886T>A (p.Tyr296Asn)
3g.14139288T>CCA351536307TMEM43c.*1021T>C (n.*1021T>C)
c.991T>C (p.Tyr331His)
n.318T>C
c.227T>C
c.886T>C (p.Tyr296His)
3g.14139288T>GCA351536308TMEM43c.*1021T>G (n.*1021T>G)
c.991T>G (p.Tyr331Asp)
n.318T>G
c.227T>G
c.886T>G (p.Tyr296Asp)
3g.14139289A=CA1346972783TMEM43c.*1022A= (n.*1022A=)
c.992A= (p.Tyr331=)
n.319A=
c.228A=
c.887A= (p.Tyr296=)
3g.14139289A>CCA351536309TMEM43c.*1022A>C (n.*1022A>C)
c.992A>C (p.Tyr331Ser)
n.319A>C
c.228A>C
c.887A>C (p.Tyr296Ser)
3g.14139289A>GCA351536310TMEM43c.*1022A>G (n.*1022A>G)
c.992A>G (p.Tyr331Cys)
n.319A>G
c.228A>G
c.887A>G (p.Tyr296Cys)
ClinVar dbSNP
3g.14139289A>TCA351536311TMEM43c.*1022A>T (n.*1022A>T)
c.992A>T (p.Tyr331Phe)
n.319A>T
c.228A>T
c.887A>T (p.Tyr296Phe)
dbSNP gnomAD v4
3g.14139290C>ACA351536312TMEM43c.*1023C>A (n.*1023C>A)
c.993C>A (p.Tyr331Ter)
n.320C>A
c.229C>A
c.888C>A (p.Tyr296Ter)
3g.14139290C=CA1346972784TMEM43c.*1023C= (n.*1023C=)
c.993C= (p.Tyr331=)
n.320C=
c.229C=
c.888C= (p.Tyr296=)
3g.14139290C>GCA351536313TMEM43c.*1023C>G (n.*1023C>G)
c.993C>G (p.Tyr331Ter)
n.320C>G
c.229C>G
c.888C>G (p.Tyr296Ter)
3g.14139290C>TCA056410TMEM43c.*1023C>T (n.*1023C>T)
c.993C>T (p.Tyr331=)
n.320C>T
c.229C>T
c.888C>T (p.Tyr296=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139291A>CCA351536315TMEM43c.*1024A>C (n.*1024A>C)
c.994A>C (p.Thr332Pro)
n.321A>C
c.230A>C
c.889A>C (p.Thr297Pro)
3g.14139291A>GCA351536314TMEM43c.*1024A>G (n.*1024A>G)
c.994A>G (p.Thr332Ala)
n.321A>G
c.230A>G
c.889A>G (p.Thr297Ala)
ClinVar dbSNP gnomAD v4
3g.14139291A>TCA351536316TMEM43c.*1024A>T (n.*1024A>T)
c.994A>T (p.Thr332Ser)
n.321A>T
c.230A>T
c.889A>T (p.Thr297Ser)
3g.14139292C>ACA351536317TMEM43c.*1025C>A (n.*1025C>A)
c.995C>A (p.Thr332Asn)
n.322C>A
c.231C>A
c.890C>A (p.Thr297Asn)
ClinVar dbSNP gnomAD v4
3g.14139292C=CA1346972785TMEM43c.*1025C= (n.*1025C=)
c.995C= (p.Thr332=)
n.322C=
c.231C=
c.890C= (p.Thr297=)
3g.14139292C>GCA351536319TMEM43c.*1025C>G (n.*1025C>G)
c.995C>G (p.Thr332Ser)
n.322C>G
c.231C>G
c.890C>G (p.Thr297Ser)
ClinVar dbSNP gnomAD v4
3g.14139292C>TCA351536318TMEM43c.*1025C>T (n.*1025C>T)
c.995C>T (p.Thr332Ile)
n.322C>T
c.231C>T
c.890C>T (p.Thr297Ile)
ClinVar dbSNP
3g.14139293C>ACA432552677TMEM43c.*1026C>A (n.*1026C>A)
c.996C>A (p.Thr332=)
n.323C>A
c.232C>A
c.891C>A (p.Thr297=)
3g.14139293C=CA1346972786TMEM43c.*1026C= (n.*1026C=)
c.996C= (p.Thr332=)
n.323C=
c.232C=
c.891C= (p.Thr297=)
3g.14139293C>GCA432552678TMEM43c.*1026C>G (n.*1026C>G)
c.996C>G (p.Thr332=)
n.323C>G
c.232C>G
c.891C>G (p.Thr297=)
3g.14139293C>TCA432552679TMEM43c.*1026C>T (n.*1026C>T)
c.996C>T (p.Thr332=)
n.323C>T
c.232C>T
c.891C>T (p.Thr297=)
dbSNP
3g.14139294T>ACA351536320TMEM43c.*1027T>A (n.*1027T>A)
c.997T>A (p.Leu333Met)
n.324T>A
c.233T>A
c.892T>A (p.Leu298Met)
3g.14139294T>CCA432552680TMEM43c.*1027T>C (n.*1027T>C)
c.997T>C (p.Leu333=)
n.324T>C
c.233T>C
c.892T>C (p.Leu298=)
3g.14139294T>GCA351536321TMEM43c.*1027T>G (n.*1027T>G)
c.997T>G (p.Leu333Val)
n.324T>G
c.233T>G
c.892T>G (p.Leu298Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14139294T=CA1346972787TMEM43c.*1027T= (n.*1027T=)
c.997T= (p.Leu333=)
n.324T=
c.233T=
c.892T= (p.Leu298=)
3g.14139295T>ACA351536322TMEM43c.*1028T>A (n.*1028T>A)
c.998T>A (p.Leu333Ter)
n.325T>A
c.234T>A
c.893T>A (p.Leu298Ter)
3g.14139295T>CCA351536323TMEM43c.*1028T>C (n.*1028T>C)
c.998T>C (p.Leu333Ser)
n.325T>C
c.234T>C
c.893T>C (p.Leu298Ser)
3g.14139295T>GCA351536324TMEM43c.*1028T>G (n.*1028T>G)
c.998T>G (p.Leu333Trp)
n.325T>G
c.234T>G
c.893T>G (p.Leu298Trp)
3g.14139296G>ACA056425TMEM43c.*1029G>A (n.*1029G>A)
c.999G>A (p.Leu333=)
n.326G>A
c.235G>A
c.894G>A (p.Leu298=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.14139296G>CCA351536325TMEM43c.*1029G>C (n.*1029G>C)
c.999G>C (p.Leu333Phe)
n.326G>C
c.235G>C
c.894G>C (p.Leu298Phe)
3g.14139296G=CA1346972788TMEM43c.*1029G= (n.*1029G=)
c.999G= (p.Leu333=)
n.326G=
c.235G=
c.894G= (p.Leu298=)
3g.14139296G>TCA351536326TMEM43c.*1029G>T (n.*1029G>T)
c.999G>T (p.Leu333Phe)
n.326G>T
c.235G>T
c.894G>T (p.Leu298Phe)
3g.14139297G>ACA351536327TMEM43c.*1030G>A (n.*1030G>A)
c.1000G>A (p.Val334Met)
n.327G>A
c.236G>A
c.895G>A (p.Val299Met)
3g.14139297G>CCA351536328TMEM43c.*1030G>C (n.*1030G>C)
c.1000G>C (p.Val334Leu)
n.327G>C
c.236G>C
c.895G>C (p.Val299Leu)
3g.14139297G>TCA351536329TMEM43c.*1030G>T (n.*1030G>T)
c.1000G>T (p.Val334Leu)
n.327G>T
c.236G>T
c.895G>T (p.Val299Leu)
3g.14139298G>ACA351536330TMEM43c.*1030+1G>A (n.*1030+1G>A)
c.1000+1G>A (n.1000+1G>A)
n.327+1G>A
c.236+1G>A
c.895+1G>A (n.895+1G>A)
gnomAD v4
3g.14139298G>CCA351536331TMEM43c.*1030+1G>C (n.*1030+1G>C)
c.1000+1G>C (n.1000+1G>C)
n.327+1G>C
c.236+1G>C
c.895+1G>C (n.895+1G>C)
3g.14139298G>TCA351536332TMEM43c.*1030+1G>T (n.*1030+1G>T)
c.1000+1G>T (n.1000+1G>T)
n.327+1G>T
c.236+1G>T
c.895+1G>T (n.895+1G>T)
3g.14139299T>ACA351536334TMEM43c.*1030+2T>A (n.*1030+2T>A)
c.1000+2T>A (n.1000+2T>A)
n.327+2T>A
c.236+2T>A
c.895+2T>A (n.895+2T>A)
3g.14139299T>CCA050808TMEM43c.*1030+2T>C (n.*1030+2T>C)
c.1000+2T>C (n.1000+2T>C)
n.327+2T>C
c.236+2T>C
c.895+2T>C (n.895+2T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139299T>GCA351536333TMEM43c.*1030+2T>G (n.*1030+2T>G)
c.1000+2T>G (n.1000+2T>G)
n.327+2T>G
c.236+2T>G
c.895+2T>G (n.895+2T>G)
3g.14139299T=CA1346972789TMEM43c.*1030+2T= (n.*1030+2T=)
c.1000+2T= (n.1000+2T=)
n.327+2T=
c.236+2T=
c.895+2T= (n.895+2T=)
3g.14139300A=CA1346972790TMEM43c.*1030+3A= (n.*1030+3A=)
c.1000+3A= (n.1000+3A=)
n.327+3A=
c.236+3A=
c.895+3A= (n.895+3A=)
3g.14139300A>GCA916081424TMEM43c.*1030+3A>G (n.*1030+3A>G)
c.1000+3A>G (n.1000+3A>G)
n.327+3A>G
c.236+3A>G
c.895+3A>G (n.895+3A>G)
ClinVar dbSNP
3g.14139300A>TCA2664570861TMEM43c.*1030+3A>T (n.*1030+3A>T)
c.1000+3A>T (n.1000+3A>T)
n.327+3A>T
c.236+3A>T
c.895+3A>T (n.895+3A>T)
gnomAD v4
3g.14139302G>ACA2755301195TMEM43c.*1030+5G>A (n.*1030+5G>A)
c.1000+5G>A (n.1000+5G>A)
n.327+5G>A
c.236+5G>A
c.895+5G>A (n.895+5G>A)
3g.14139302G=CA1346972791TMEM43c.*1030+5G= (n.*1030+5G=)
c.1000+5G= (n.1000+5G=)
n.327+5G=
c.236+5G=
c.895+5G= (n.895+5G=)
3g.14139302G>TCA024562TMEM43c.*1030+5G>T (n.*1030+5G>T)
c.1000+5G>T (n.1000+5G>T)
n.327+5G>T
c.236+5G>T
c.895+5G>T (n.895+5G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139303T>CCA050878TMEM43c.*1030+6T>C (n.*1030+6T>C)
c.1000+6T>C (n.1000+6T>C)
n.327+6T>C
c.236+6T>C
c.895+6T>C (n.895+6T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139303T=CA1346972792TMEM43c.*1030+6T= (n.*1030+6T=)
c.1000+6T= (n.1000+6T=)
n.327+6T=
c.236+6T=
c.895+6T= (n.895+6T=)
3g.14139306T>ACA2664570862TMEM43c.*1030+9T>A (n.*1030+9T>A)
c.1000+9T>A (n.1000+9T>A)
n.327+9T>A
c.236+9T>A
c.895+9T>A (n.895+9T>A)
gnomAD v4
3g.14139306T>CCA541297755TMEM43c.*1030+9T>C (n.*1030+9T>C)
c.1000+9T>C (n.1000+9T>C)
n.327+9T>C
c.236+9T>C
c.895+9T>C (n.895+9T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14139306T=CA1346972793TMEM43c.*1030+9T= (n.*1030+9T=)
c.1000+9T= (n.1000+9T=)
n.327+9T=
c.236+9T=
c.895+9T= (n.895+9T=)
3g.14139308G>ACA2664570863TMEM43c.*1030+11G>A (n.*1030+11G>A)
c.1000+11G>A (n.1000+11G>A)
n.327+11G>A
c.236+11G>A
c.895+11G>A (n.895+11G>A)
gnomAD v4
3g.14139309G>ACA050787TMEM43c.*1030+12G>A (n.*1030+12G>A)
c.1000+12G>A (n.1000+12G>A)
n.327+12G>A
c.236+12G>A
c.895+12G>A (n.895+12G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139309G=CA1346972794TMEM43c.*1030+12G= (n.*1030+12G=)
c.1000+12G= (n.1000+12G=)
n.327+12G=
c.236+12G=
c.895+12G= (n.895+12G=)
3g.14139310G>ACA2577516598TMEM43c.*1030+13G>A (n.*1030+13G>A)
c.1000+13G>A (n.1000+13G>A)
n.327+13G>A
c.236+13G>A
c.895+13G>A (n.895+13G>A)
3g.14139310G>CCA899784772TMEM43c.*1030+13G>C (n.*1030+13G>C)
c.1000+13G>C (n.1000+13G>C)
n.327+13G>C
c.236+13G>C
c.895+13G>C (n.895+13G>C)
ClinVar dbSNP gnomAD v4
3g.14139310G=CA1346972795TMEM43c.*1030+13G= (n.*1030+13G=)
c.1000+13G= (n.1000+13G=)
n.327+13G=
c.236+13G=
c.895+13G= (n.895+13G=)
3g.14139313G>ACA050794TMEM43c.*1030+16G>A (n.*1030+16G>A)
c.1000+16G>A (n.1000+16G>A)
n.327+16G>A
c.236+16G>A
c.895+16G>A (n.895+16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14139313G=CA1346972796TMEM43c.*1030+16G= (n.*1030+16G=)
c.1000+16G= (n.1000+16G=)
n.327+16G=
c.236+16G=
c.895+16G= (n.895+16G=)

Number of alleles fetched