Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.30071466_30071504delCA2677813980RNF39c.674_712del (p.Ala225_Asp237del)
c.878_916del (p.Ala293_Asp305del)
c.419_457del (p.Ala140_Asp152del)
 gnomAD v4
6g.30071463G>ACA363054195RNF39c.707C>T (p.Ala236Val)
c.911C>T (p.Ala304Val)
c.452C>T (p.Ala151Val)
 gnomAD v4
6g.30071463G>CCA363054196RNF39c.707C>G (p.Ala236Gly)
c.911C>G (p.Ala304Gly)
c.452C>G (p.Ala151Gly)
 gnomAD v4
6g.30071463G=CA1618576746RNF39c.707C= (p.Ala236=)
c.911C= (p.Ala304=)
c.452C= (p.Ala151=)
6g.30071463G>TCA3694380RNF39c.707C>A (p.Ala236Glu)
c.911C>A (p.Ala304Glu)
c.452C>A (p.Ala151Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30071464C>ACA363054197RNF39c.706G>T (p.Ala236Ser)
c.910G>T (p.Ala304Ser)
c.451G>T (p.Ala151Ser)
 gnomAD v4
6g.30071464C>GCA363054199RNF39c.706G>C (p.Ala236Pro)
c.910G>C (p.Ala304Pro)
c.451G>C (p.Ala151Pro)
6g.30071464C>TCA363054198RNF39c.706G>A (p.Ala236Thr)
c.910G>A (p.Ala304Thr)
c.451G>A (p.Ala151Thr)
 gnomAD v4
6g.30071465A>CCA363054200RNF39c.705T>G (p.Asp235Glu)
c.909T>G (p.Asp303Glu)
c.450T>G (p.Asp150Glu)
6g.30071465A>GCA449767574RNF39c.705T>C (p.Asp235=)
c.909T>C (p.Asp303=)
c.450T>C (p.Asp150=)
 gnomAD v4
6g.30071465A>TCA363054201RNF39c.705T>A (p.Asp235Glu)
c.909T>A (p.Asp303Glu)
c.450T>A (p.Asp150Glu)
6g.30071466T>ACA363054202RNF39c.704A>T (p.Asp235Val)
c.908A>T (p.Asp303Val)
c.449A>T (p.Asp150Val)
 gnomAD v4
6g.30071466T>CCA363054203RNF39c.704A>G (p.Asp235Gly)
c.908A>G (p.Asp303Gly)
c.449A>G (p.Asp150Gly)
 gnomAD v4
6g.30071466T>GCA363054204RNF39c.704A>C (p.Asp235Ala)
c.908A>C (p.Asp303Ala)
c.449A>C (p.Asp150Ala)
6g.30071467C>ACA363054205RNF39c.703G>T (p.Asp235Tyr)
c.907G>T (p.Asp303Tyr)
c.448G>T (p.Asp150Tyr)
 gnomAD v4
6g.30071467C>GCA363054206RNF39c.703G>C (p.Asp235His)
c.907G>C (p.Asp303His)
c.448G>C (p.Asp150His)
 gnomAD v4
6g.30071467C>TCA363054207RNF39c.703G>A (p.Asp235Asn)
c.907G>A (p.Asp303Asn)
c.448G>A (p.Asp150Asn)
6g.30071468C>ACA363054208RNF39c.702G>T (p.Glu234Asp)
c.906G>T (p.Glu302Asp)
c.447G>T (p.Glu149Asp)
 gnomAD v4
6g.30071468C>GCA363054209RNF39c.702G>C (p.Glu234Asp)
c.906G>C (p.Glu302Asp)
c.447G>C (p.Glu149Asp)
6g.30071468C>TCA449767578RNF39c.702G>A (p.Glu234=)
c.906G>A (p.Glu302=)
c.447G>A (p.Glu149=)
 gnomAD v4
6g.30071469T>ACA363054212RNF39c.701A>T (p.Glu234Val)
c.905A>T (p.Glu302Val)
c.446A>T (p.Glu149Val)
6g.30071469T>CCA363054211RNF39c.701A>G (p.Glu234Gly)
c.905A>G (p.Glu302Gly)
c.446A>G (p.Glu149Gly)
 gnomAD v4
6g.30071469T>GCA363054210RNF39c.701A>C (p.Glu234Ala)
c.905A>C (p.Glu302Ala)
c.446A>C (p.Glu149Ala)
6g.30071470C>ACA363054213RNF39c.700G>T (p.Glu234Ter)
c.904G>T (p.Glu302Ter)
c.445G>T (p.Glu149Ter)
 gnomAD v4
6g.30071470C>GCA363054215RNF39c.700G>C (p.Glu234Gln)
c.904G>C (p.Glu302Gln)
c.445G>C (p.Glu149Gln)
 gnomAD v4
6g.30071470C>TCA363054214RNF39c.700G>A (p.Glu234Lys)
c.904G>A (p.Glu302Lys)
c.445G>A (p.Glu149Lys)
 gnomAD v4
6g.30071473delCA2677813982RNF39c.700del (p.Glu234ArgfsTer25)
c.700del (p.Glu234ArgfsTer?)
c.904del (p.Glu302ArgfsTer25)
c.904del (p.Glu302ArgfsTer?)
c.445del (p.Glu149ArgfsTer25)
 gnomAD v4
6g.30071471C>ACA449767582RNF39c.699G>T (p.Gly233=)
c.903G>T (p.Gly301=)
c.444G>T (p.Gly148=)
 gnomAD v4
6g.30071471C>GCA449767583RNF39c.699G>C (p.Gly233=)
c.903G>C (p.Gly301=)
c.444G>C (p.Gly148=)
6g.30071471C>TCA449767584RNF39c.699G>A (p.Gly233=)
c.903G>A (p.Gly301=)
c.444G>A (p.Gly148=)
 gnomAD v4
6g.30071472C>ACA363054216RNF39c.698G>T (p.Gly233Val)
c.902G>T (p.Gly301Val)
c.443G>T (p.Gly148Val)
 gnomAD v4
6g.30071472C=CA1618576747RNF39c.698G= (p.Gly233=)
c.902G= (p.Gly301=)
c.443G= (p.Gly148=)
6g.30071472C>GCA363054218RNF39c.698G>C (p.Gly233Ala)
c.902G>C (p.Gly301Ala)
c.443G>C (p.Gly148Ala)
 dbSNP gnomAD v4
6g.30071472C>TCA363054217RNF39c.698G>A (p.Gly233Glu)
c.902G>A (p.Gly301Glu)
c.443G>A (p.Gly148Glu)
 gnomAD v4
6g.30071473C>ACA363054219RNF39c.697G>T (p.Gly233Trp)
c.901G>T (p.Gly301Trp)
c.442G>T (p.Gly148Trp)
 gnomAD v4
6g.30071473C=CA1618576748RNF39c.697G= (p.Gly233=)
c.901G= (p.Gly301=)
c.442G= (p.Gly148=)
6g.30071473C>GCA363054220RNF39c.697G>C (p.Gly233Arg)
c.901G>C (p.Gly301Arg)
c.442G>C (p.Gly148Arg)
6g.30071473C>TCA363054221RNF39c.697G>A (p.Gly233Arg)
c.901G>A (p.Gly301Arg)
c.442G>A (p.Gly148Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.30071474A=CA1618576749RNF39c.696T= (p.Ser232=)
c.900T= (p.Ser300=)
c.441T= (p.Ser147=)
6g.30071474A>CCA449767586RNF39c.696T>G (p.Ser232=)
c.900T>G (p.Ser300=)
c.441T>G (p.Ser147=)
 dbSNP gnomAD v3 gnomAD v4
6g.30071474A>GCA449767588RNF39c.696T>C (p.Ser232=)
c.900T>C (p.Ser300=)
c.441T>C (p.Ser147=)
 gnomAD v4
6g.30071474A>TCA449767589RNF39c.696T>A (p.Ser232=)
c.900T>A (p.Ser300=)
c.441T>A (p.Ser147=)
 gnomAD v4
6g.30071475G>ACA363054222RNF39c.695C>T (p.Ser232Phe)
c.899C>T (p.Ser300Phe)
c.440C>T (p.Ser147Phe)
 gnomAD v4
6g.30071475G>CCA363054223RNF39c.695C>G (p.Ser232Cys)
c.899C>G (p.Ser300Cys)
c.440C>G (p.Ser147Cys)
 COSMIC
6g.30071475G>TCA363054224RNF39c.695C>A (p.Ser232Tyr)
c.899C>A (p.Ser300Tyr)
c.440C>A (p.Ser147Tyr)
 gnomAD v4
6g.30071476A>CCA363054225RNF39c.694T>G (p.Ser232Ala)
c.898T>G (p.Ser300Ala)
c.439T>G (p.Ser147Ala)
6g.30071476A>GCA363054226RNF39c.694T>C (p.Ser232Pro)
c.898T>C (p.Ser300Pro)
c.439T>C (p.Ser147Pro)
6g.30071476A>TCA363054227RNF39c.694T>A (p.Ser232Thr)
c.898T>A (p.Ser300Thr)
c.439T>A (p.Ser147Thr)
6g.30071476_30071478delinsAAGCA1618576750RNF39c.692_694delinsCTT (p.Ser231=)
c.896_898delinsCTT (p.Ser299=)
c.437_439delinsCTT (p.Ser146=)
6g.30071477A=CA1618576752RNF39c.693T= (p.Ser231=)
c.897T= (p.Ser299=)
c.438T= (p.Ser146=)

Number of alleles fetched