Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108753466C>ACA348052981RANBP2c.1958C>A (p.Thr653Asn)
c.1880C>A (p.Thr627Asn)
c.1955C>A (p.Thr652Asn)
2g.108753466C=CA1278286967RANBP2c.1958C= (p.Thr653=)
c.1880C= (p.Thr627=)
c.1955C= (p.Thr652=)
2g.108753466C>GCA348052983RANBP2c.1958C>G (p.Thr653Ser)
c.1880C>G (p.Thr627Ser)
c.1955C>G (p.Thr652Ser)
2g.108753466C>TCA340774RANBP2c.1958C>T (p.Thr653Ile)
c.1880C>T (p.Thr627Ile)
c.1955C>T (p.Thr652Ile)
 ClinVar dbSNP
2g.108753467T>ACA427909869RANBP2c.1959T>A (p.Thr653=)
c.1881T>A (p.Thr627=)
c.1956T>A (p.Thr652=)
2g.108753467T>CCA427909870RANBP2c.1959T>C (p.Thr653=)
c.1881T>C (p.Thr627=)
c.1956T>C (p.Thr652=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108753467T>GCA1822497RANBP2c.1959T>G (p.Thr653=)
c.1881T>G (p.Thr627=)
c.1956T>G (p.Thr652=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108753467T=CA1278286968RANBP2c.1959T= (p.Thr653=)
c.1881T= (p.Thr627=)
c.1956T= (p.Thr652=)
2g.108753469_108753470delCA2573051640RANBP2c.1961_1962del (p.Phe654CysfsTer18)
c.1883_1884del (p.Phe628CysfsTer18)
c.1958_1959del (p.Phe653CysfsTer18)
 ClinVar dbSNP gnomAD v4
2g.108753468T>ACA348052992RANBP2c.1960T>A (p.Phe654Ile)
c.1882T>A (p.Phe628Ile)
c.1957T>A (p.Phe653Ile)
2g.108753468T>CCA348052997RANBP2c.1960T>C (p.Phe654Leu)
c.1882T>C (p.Phe628Leu)
c.1957T>C (p.Phe653Leu)
2g.108753468T>GCA348053000RANBP2c.1960T>G (p.Phe654Val)
c.1882T>G (p.Phe628Val)
c.1957T>G (p.Phe653Val)
2g.108753469T>ACA1822498RANBP2c.1961T>A (p.Phe654Tyr)
c.1883T>A (p.Phe628Tyr)
c.1958T>A (p.Phe653Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.108753469T>CCA348053005RANBP2c.1961T>C (p.Phe654Ser)
c.1883T>C (p.Phe628Ser)
c.1958T>C (p.Phe653Ser)
2g.108753469T>GCA348053010RANBP2c.1961T>G (p.Phe654Cys)
c.1883T>G (p.Phe628Cys)
c.1958T>G (p.Phe653Cys)
 gnomAD v4
2g.108753469T=CA1278286969RANBP2c.1961T= (p.Phe654=)
c.1883T= (p.Phe628=)
c.1958T= (p.Phe653=)
2g.108753470T>ACA348053013RANBP2c.1962T>A (p.Phe654Leu)
c.1884T>A (p.Phe628Leu)
c.1959T>A (p.Phe653Leu)
2g.108753470T>CCA427909875RANBP2c.1962T>C (p.Phe654=)
c.1884T>C (p.Phe628=)
c.1959T>C (p.Phe653=)
 dbSNP
2g.108753470T>GCA348053014RANBP2c.1962T>G (p.Phe654Leu)
c.1884T>G (p.Phe628Leu)
c.1959T>G (p.Phe653Leu)
2g.108753470T=CA1278286970RANBP2c.1962T= (p.Phe654=)
c.1884T= (p.Phe628=)
c.1959T= (p.Phe653=)
2g.108753471G>ACA348053015RANBP2c.1963G>A (p.Ala655Thr)
c.1885G>A (p.Ala629Thr)
c.1960G>A (p.Ala654Thr)
 ClinVar dbSNP
2g.108753471G>CCA348053021RANBP2c.1963G>C (p.Ala655Pro)
c.1885G>C (p.Ala629Pro)
c.1960G>C (p.Ala654Pro)
 COSMIC
2g.108753471G>TCA348053018RANBP2c.1963G>T (p.Ala655Ser)
c.1885G>T (p.Ala629Ser)
c.1960G>T (p.Ala654Ser)
2g.108753472C>ACA348053027RANBP2c.1964C>A (p.Ala655Asp)
c.1886C>A (p.Ala629Asp)
c.1961C>A (p.Ala654Asp)
2g.108753472C=CA1278286971RANBP2c.1964C= (p.Ala655=)
c.1886C= (p.Ala629=)
c.1961C= (p.Ala654=)
2g.108753472C>GCA348053033RANBP2c.1964C>G (p.Ala655Gly)
c.1886C>G (p.Ala629Gly)
c.1961C>G (p.Ala654Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.108753472C>TCA348053035RANBP2c.1964C>T (p.Ala655Val)
c.1886C>T (p.Ala629Val)
c.1961C>T (p.Ala654Val)
2g.108753473T>ACA427909878RANBP2c.1965T>A (p.Ala655=)
c.1887T>A (p.Ala629=)
c.1962T>A (p.Ala654=)
2g.108753473T>CCA427909880RANBP2c.1965T>C (p.Ala655=)
c.1887T>C (p.Ala629=)
c.1962T>C (p.Ala654=)
2g.108753473T>GCA427909882RANBP2c.1965T>G (p.Ala655=)
c.1887T>G (p.Ala629=)
c.1962T>G (p.Ala654=)
2g.108753474A=CA1278286972RANBP2c.1966A= (p.Ile656=)
c.1888A= (p.Ile630=)
c.1963A= (p.Ile655=)
2g.108753474A>CCA348053037RANBP2c.1966A>C (p.Ile656Leu)
c.1888A>C (p.Ile630Leu)
c.1963A>C (p.Ile655Leu)
2g.108753474A>GCA340775RANBP2c.1966A>G (p.Ile656Val)
c.1888A>G (p.Ile630Val)
c.1963A>G (p.Ile655Val)
 ClinVar dbSNP gnomAD v4
2g.108753474A>TCA348053038RANBP2c.1966A>T (p.Ile656Leu)
c.1888A>T (p.Ile630Leu)
c.1963A>T (p.Ile655Leu)
2g.108753475T>ACA348053044RANBP2c.1967T>A (p.Ile656Lys)
c.1889T>A (p.Ile630Lys)
c.1964T>A (p.Ile655Lys)
2g.108753475T>CCA348053045RANBP2c.1967T>C (p.Ile656Thr)
c.1889T>C (p.Ile630Thr)
c.1964T>C (p.Ile655Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108753475T>GCA348053047RANBP2c.1967T>G (p.Ile656Arg)
c.1889T>G (p.Ile630Arg)
c.1964T>G (p.Ile655Arg)
2g.108753475T=CA1278286973RANBP2c.1967T= (p.Ile656=)
c.1889T= (p.Ile630=)
c.1964T= (p.Ile655=)
2g.108753476A=CA1278286974RANBP2c.1968A= (p.Ile656=)
c.1890A= (p.Ile630=)
c.1965A= (p.Ile655=)
2g.108753476A>CCA427909886RANBP2c.1968A>C (p.Ile656=)
c.1890A>C (p.Ile630=)
c.1965A>C (p.Ile655=)
2g.108753476A>GCA1822499RANBP2c.1968A>G (p.Ile656Met)
c.1890A>G (p.Ile630Met)
c.1965A>G (p.Ile655Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108753476A>TCA427909887RANBP2c.1968A>T (p.Ile656=)
c.1890A>T (p.Ile630=)
c.1965A>T (p.Ile655=)
2g.108753477T>ACA348053055RANBP2c.1969T>A (p.Leu657Met)
c.1891T>A (p.Leu631Met)
c.1966T>A (p.Leu656Met)
2g.108753477T>CCA427909889RANBP2c.1969T>C (p.Leu657=)
c.1891T>C (p.Leu631=)
c.1966T>C (p.Leu656=)
 gnomAD v4
2g.108753477T>GCA348053058RANBP2c.1969T>G (p.Leu657Val)
c.1891T>G (p.Leu631Val)
c.1966T>G (p.Leu656Val)
2g.108753478T>ACA348053072RANBP2c.1970T>A (p.Leu657Ter)
c.1892T>A (p.Leu631Ter)
c.1967T>A (p.Leu656Ter)
2g.108753478T>CCA348053073RANBP2c.1970T>C (p.Leu657Ser)
c.1892T>C (p.Leu631Ser)
c.1967T>C (p.Leu656Ser)
 gnomAD v4
2g.108753478T>GCA348053068RANBP2c.1970T>G (p.Leu657Trp)
c.1892T>G (p.Leu631Trp)
c.1967T>G (p.Leu656Trp)
2g.108753479G>ACA427909894RANBP2c.1971G>A (p.Leu657=)
c.1893G>A (p.Leu631=)
c.1968G>A (p.Leu656=)
2g.108753479G>CCA348053075RANBP2c.1971G>C (p.Leu657Phe)
c.1893G>C (p.Leu631Phe)
c.1968G>C (p.Leu656Phe)

Number of alleles fetched