Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108768293T>ACA348080116RANBP2c.2603-3408T>A (n.2603-3408T>A)
c.2525-3408T>A (n.2525-3408T>A)
c.2620T>A
n.566T>A
c.385T>A
n.56T>A
c.7754T>A (p.Ile2585Asn)
c.7676T>A (p.Ile2559Asn)
c.4826T>A (p.Ile1609Asn)
c.7751T>A (p.Ile2584Asn)
c.7577T>A (p.Ile2526Asn)
c.5042T>A (p.Ile1681Asn)
c.4823T>A (p.Ile1608Asn)
2g.108768293T>CCA1823650RANBP2c.2603-3408T>C (n.2603-3408T>C)
c.2525-3408T>C (n.2525-3408T>C)
c.2620T>C
n.566T>C
c.385T>C
n.56T>C
c.7754T>C (p.Ile2585Thr)
c.7676T>C (p.Ile2559Thr)
c.4826T>C (p.Ile1609Thr)
c.7751T>C (p.Ile2584Thr)
c.7577T>C (p.Ile2526Thr)
c.5042T>C (p.Ile1681Thr)
c.4823T>C (p.Ile1608Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768293T>GCA348080118RANBP2c.2603-3408T>G (n.2603-3408T>G)
c.2525-3408T>G (n.2525-3408T>G)
c.2620T>G
n.566T>G
c.385T>G
n.56T>G
c.7754T>G (p.Ile2585Ser)
c.7676T>G (p.Ile2559Ser)
c.4826T>G (p.Ile1609Ser)
c.7751T>G (p.Ile2584Ser)
c.7577T>G (p.Ile2526Ser)
c.5042T>G (p.Ile1681Ser)
c.4823T>G (p.Ile1608Ser)
2g.108768293T=CA1278295825RANBP2c.2603-3408T= (n.2603-3408T=)
c.2525-3408T= (n.2525-3408T=)
c.2620T=
n.566T=
c.385T=
n.56T=
c.7754T= (p.Ile2585=)
c.7676T= (p.Ile2559=)
c.4826T= (p.Ile1609=)
c.7751T= (p.Ile2584=)
c.7577T= (p.Ile2526=)
c.5042T= (p.Ile1681=)
c.4823T= (p.Ile1608=)
2g.108768294C>ACA428203938RANBP2c.2603-3407C>A (n.2603-3407C>A)
c.2525-3407C>A (n.2525-3407C>A)
c.2621C>A
n.567C>A
c.386C>A
n.57C>A
c.7755C>A (p.Ile2585=)
c.7677C>A (p.Ile2559=)
c.4827C>A (p.Ile1609=)
c.7752C>A (p.Ile2584=)
c.7578C>A (p.Ile2526=)
c.5043C>A (p.Ile1681=)
c.4824C>A (p.Ile1608=)
2g.108768294C=CA1278295827RANBP2c.2603-3407C= (n.2603-3407C=)
c.2525-3407C= (n.2525-3407C=)
c.2621C=
n.567C=
c.386C=
n.57C=
c.7755C= (p.Ile2585=)
c.7677C= (p.Ile2559=)
c.4827C= (p.Ile1609=)
c.7752C= (p.Ile2584=)
c.7578C= (p.Ile2526=)
c.5043C= (p.Ile1681=)
c.4824C= (p.Ile1608=)
2g.108768294C>GCA348080121RANBP2c.2603-3407C>G (n.2603-3407C>G)
c.2525-3407C>G (n.2525-3407C>G)
c.2621C>G
n.567C>G
c.386C>G
n.57C>G
c.7755C>G (p.Ile2585Met)
c.7677C>G (p.Ile2559Met)
c.4827C>G (p.Ile1609Met)
c.7752C>G (p.Ile2584Met)
c.7578C>G (p.Ile2526Met)
c.5043C>G (p.Ile1681Met)
c.4824C>G (p.Ile1608Met)
2g.108768294C>TCA1823651RANBP2c.2603-3407C>T (n.2603-3407C>T)
c.2525-3407C>T (n.2525-3407C>T)
c.2621C>T
n.567C>T
c.386C>T
n.57C>T
c.7755C>T (p.Ile2585=)
c.7677C>T (p.Ile2559=)
c.4827C>T (p.Ile1609=)
c.7752C>T (p.Ile2584=)
c.7578C>T (p.Ile2526=)
c.5043C>T (p.Ile1681=)
c.4824C>T (p.Ile1608=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768295G>ACA1823652RANBP2c.2603-3406G>A (n.2603-3406G>A)
c.2525-3406G>A (n.2525-3406G>A)
c.2622G>A
n.568G>A
c.387G>A
n.58G>A
c.7756G>A (p.Glu2586Lys)
c.7678G>A (p.Glu2560Lys)
c.4828G>A (p.Glu1610Lys)
c.7753G>A (p.Glu2585Lys)
c.7579G>A (p.Glu2527Lys)
c.5044G>A (p.Glu1682Lys)
c.4825G>A (p.Glu1609Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108768295G>CCA348080128RANBP2c.2603-3406G>C (n.2603-3406G>C)
c.2525-3406G>C (n.2525-3406G>C)
c.2622G>C
n.568G>C
c.387G>C
n.58G>C
c.7756G>C (p.Glu2586Gln)
c.7678G>C (p.Glu2560Gln)
c.4828G>C (p.Glu1610Gln)
c.7753G>C (p.Glu2585Gln)
c.7579G>C (p.Glu2527Gln)
c.5044G>C (p.Glu1682Gln)
c.4825G>C (p.Glu1609Gln)
2g.108768295G=CA1278295830RANBP2c.2603-3406G= (n.2603-3406G=)
c.2525-3406G= (n.2525-3406G=)
c.2622G=
n.568G=
c.387G=
n.58G=
c.7756G= (p.Glu2586=)
c.7678G= (p.Glu2560=)
c.4828G= (p.Glu1610=)
c.7753G= (p.Glu2585=)
c.7579G= (p.Glu2527=)
c.5044G= (p.Glu1682=)
c.4825G= (p.Glu1609=)
2g.108768295G>TCA348080130RANBP2c.2603-3406G>T (n.2603-3406G>T)
c.2525-3406G>T (n.2525-3406G>T)
c.2622G>T
n.568G>T
c.387G>T
n.58G>T
c.7756G>T (p.Glu2586Ter)
c.7678G>T (p.Glu2560Ter)
c.4828G>T (p.Glu1610Ter)
c.7753G>T (p.Glu2585Ter)
c.7579G>T (p.Glu2527Ter)
c.5044G>T (p.Glu1682Ter)
c.4825G>T (p.Glu1609Ter)
2g.108768296A>CCA348080134RANBP2c.2603-3405A>C (n.2603-3405A>C)
c.2525-3405A>C (n.2525-3405A>C)
c.2623A>C
n.569A>C
c.388A>C
n.59A>C
c.7757A>C (p.Glu2586Ala)
c.7679A>C (p.Glu2560Ala)
c.4829A>C (p.Glu1610Ala)
c.7754A>C (p.Glu2585Ala)
c.7580A>C (p.Glu2527Ala)
c.5045A>C (p.Glu1682Ala)
c.4826A>C (p.Glu1609Ala)
2g.108768296A>GCA348080136RANBP2c.2603-3405A>G (n.2603-3405A>G)
c.2525-3405A>G (n.2525-3405A>G)
c.2623A>G
n.569A>G
c.388A>G
n.59A>G
c.7757A>G (p.Glu2586Gly)
c.7679A>G (p.Glu2560Gly)
c.4829A>G (p.Glu1610Gly)
c.7754A>G (p.Glu2585Gly)
c.7580A>G (p.Glu2527Gly)
c.5045A>G (p.Glu1682Gly)
c.4826A>G (p.Glu1609Gly)
2g.108768296A>TCA348080138RANBP2c.2603-3405A>T (n.2603-3405A>T)
c.2525-3405A>T (n.2525-3405A>T)
c.2623A>T
n.569A>T
c.388A>T
n.59A>T
c.7757A>T (p.Glu2586Val)
c.7679A>T (p.Glu2560Val)
c.4829A>T (p.Glu1610Val)
c.7754A>T (p.Glu2585Val)
c.7580A>T (p.Glu2527Val)
c.5045A>T (p.Glu1682Val)
c.4826A>T (p.Glu1609Val)
2g.108768297A=CA1278292585RANBP2c.2603-3404A= (n.2603-3404A=)
c.2525-3404A= (n.2525-3404A=)
c.2624A=
n.570A=
c.389A=
n.60A=
c.7758A= (p.Glu2586=)
c.7680A= (p.Glu2560=)
c.4830A= (p.Glu1610=)
c.7755A= (p.Glu2585=)
c.7581A= (p.Glu2527=)
c.5046A= (p.Glu1682=)
c.4827A= (p.Glu1609=)
2g.108768297A>CCA348080142RANBP2c.2603-3404A>C (n.2603-3404A>C)
c.2525-3404A>C (n.2525-3404A>C)
c.2624A>C
n.570A>C
c.389A>C
n.60A>C
c.7758A>C (p.Glu2586Asp)
c.7680A>C (p.Glu2560Asp)
c.4830A>C (p.Glu1610Asp)
c.7755A>C (p.Glu2585Asp)
c.7581A>C (p.Glu2527Asp)
c.5046A>C (p.Glu1682Asp)
c.4827A>C (p.Glu1609Asp)
2g.108768297A>GCA428203941RANBP2c.2603-3404A>G (n.2603-3404A>G)
c.2525-3404A>G (n.2525-3404A>G)
c.2624A>G
n.570A>G
c.389A>G
n.60A>G
c.7758A>G (p.Glu2586=)
c.7680A>G (p.Glu2560=)
c.4830A>G (p.Glu1610=)
c.7755A>G (p.Glu2585=)
c.7581A>G (p.Glu2527=)
c.5046A>G (p.Glu1682=)
c.4827A>G (p.Glu1609=)
 dbSNP gnomAD v2 gnomAD v4
2g.108768297A>TCA348080141RANBP2c.2603-3404A>T (n.2603-3404A>T)
c.2525-3404A>T (n.2525-3404A>T)
c.2624A>T
n.570A>T
c.389A>T
n.60A>T
c.7758A>T (p.Glu2586Asp)
c.7680A>T (p.Glu2560Asp)
c.4830A>T (p.Glu1610Asp)
c.7755A>T (p.Glu2585Asp)
c.7581A>T (p.Glu2527Asp)
c.5046A>T (p.Glu1682Asp)
c.4827A>T (p.Glu1609Asp)
2g.108768298C>ACA348080145RANBP2c.2603-3403C>A (n.2603-3403C>A)
c.2525-3403C>A (n.2525-3403C>A)
c.2625C>A
n.571C>A
c.390C>A
n.61C>A
c.7759C>A (p.Gln2587Lys)
c.7681C>A (p.Gln2561Lys)
c.4831C>A (p.Gln1611Lys)
c.7756C>A (p.Gln2586Lys)
c.7582C>A (p.Gln2528Lys)
c.5047C>A (p.Gln1683Lys)
c.4828C>A (p.Gln1610Lys)
2g.108768298C=CA1278292588RANBP2c.2603-3403C= (n.2603-3403C=)
c.2525-3403C= (n.2525-3403C=)
c.2625C=
n.571C=
c.390C=
n.61C=
c.7759C= (p.Gln2587=)
c.7681C= (p.Gln2561=)
c.4831C= (p.Gln1611=)
c.7756C= (p.Gln2586=)
c.7582C= (p.Gln2528=)
c.5047C= (p.Gln1683=)
c.4828C= (p.Gln1610=)
2g.108768298C>GCA1823653RANBP2c.2603-3403C>G (n.2603-3403C>G)
c.2525-3403C>G (n.2525-3403C>G)
c.2625C>G
n.571C>G
c.390C>G
n.61C>G
c.7759C>G (p.Gln2587Glu)
c.7681C>G (p.Gln2561Glu)
c.4831C>G (p.Gln1611Glu)
c.7756C>G (p.Gln2586Glu)
c.7582C>G (p.Gln2528Glu)
c.5047C>G (p.Gln1683Glu)
c.4828C>G (p.Gln1610Glu)
 dbSNP ExAC gnomAD v2
2g.108768298C>TCA348080150RANBP2c.2603-3403C>T (n.2603-3403C>T)
c.2525-3403C>T (n.2525-3403C>T)
c.2625C>T
n.571C>T
c.390C>T
n.61C>T
c.7759C>T (p.Gln2587Ter)
c.7681C>T (p.Gln2561Ter)
c.4831C>T (p.Gln1611Ter)
c.7756C>T (p.Gln2586Ter)
c.7582C>T (p.Gln2528Ter)
c.5047C>T (p.Gln1683Ter)
c.4828C>T (p.Gln1610Ter)
2g.108768299A=CA1278292592RANBP2c.2603-3402A= (n.2603-3402A=)
c.2525-3402A= (n.2525-3402A=)
c.2626A=
n.572A=
c.391A=
n.62A=
c.7760A= (p.Gln2587=)
c.7682A= (p.Gln2561=)
c.4832A= (p.Gln1611=)
c.7757A= (p.Gln2586=)
c.7583A= (p.Gln2528=)
c.5048A= (p.Gln1683=)
c.4829A= (p.Gln1610=)
2g.108768299A>CCA348080154RANBP2c.2603-3402A>C (n.2603-3402A>C)
c.2525-3402A>C (n.2525-3402A>C)
c.2626A>C
n.572A>C
c.391A>C
n.62A>C
c.7760A>C (p.Gln2587Pro)
c.7682A>C (p.Gln2561Pro)
c.4832A>C (p.Gln1611Pro)
c.7757A>C (p.Gln2586Pro)
c.7583A>C (p.Gln2528Pro)
c.5048A>C (p.Gln1683Pro)
c.4829A>C (p.Gln1610Pro)
2g.108768299A>GCA348080156RANBP2c.2603-3402A>G (n.2603-3402A>G)
c.2525-3402A>G (n.2525-3402A>G)
c.2626A>G
n.572A>G
c.391A>G
n.62A>G
c.7760A>G (p.Gln2587Arg)
c.7682A>G (p.Gln2561Arg)
c.4832A>G (p.Gln1611Arg)
c.7757A>G (p.Gln2586Arg)
c.7583A>G (p.Gln2528Arg)
c.5048A>G (p.Gln1683Arg)
c.4829A>G (p.Gln1610Arg)
 ClinVar dbSNP
2g.108768299A>TCA348080158RANBP2c.2603-3402A>T (n.2603-3402A>T)
c.2525-3402A>T (n.2525-3402A>T)
c.2626A>T
n.572A>T
c.391A>T
n.62A>T
c.7760A>T (p.Gln2587Leu)
c.7682A>T (p.Gln2561Leu)
c.4832A>T (p.Gln1611Leu)
c.7757A>T (p.Gln2586Leu)
c.7583A>T (p.Gln2528Leu)
c.5048A>T (p.Gln1683Leu)
c.4829A>T (p.Gln1610Leu)
2g.108768300G>ACA428203943RANBP2c.2603-3401G>A (n.2603-3401G>A)
c.2525-3401G>A (n.2525-3401G>A)
c.2627G>A
n.573G>A
c.392G>A
n.63G>A
c.7761G>A (p.Gln2587=)
c.7683G>A (p.Gln2561=)
c.4833G>A (p.Gln1611=)
c.7758G>A (p.Gln2586=)
c.7584G>A (p.Gln2528=)
c.5049G>A (p.Gln1683=)
c.4830G>A (p.Gln1610=)
2g.108768300G>CCA348080162RANBP2c.2603-3401G>C (n.2603-3401G>C)
c.2525-3401G>C (n.2525-3401G>C)
c.2627G>C
n.573G>C
c.392G>C
n.63G>C
c.7761G>C (p.Gln2587His)
c.7683G>C (p.Gln2561His)
c.4833G>C (p.Gln1611His)
c.7758G>C (p.Gln2586His)
c.7584G>C (p.Gln2528His)
c.5049G>C (p.Gln1683His)
c.4830G>C (p.Gln1610His)
2g.108768300G=CA1278292594RANBP2c.2603-3401G= (n.2603-3401G=)
c.2525-3401G= (n.2525-3401G=)
c.2627G=
n.573G=
c.392G=
n.63G=
c.7761G= (p.Gln2587=)
c.7683G= (p.Gln2561=)
c.4833G= (p.Gln1611=)
c.7758G= (p.Gln2586=)
c.7584G= (p.Gln2528=)
c.5049G= (p.Gln1683=)
c.4830G= (p.Gln1610=)
2g.108768300G>TCA1823654RANBP2c.2603-3401G>T (n.2603-3401G>T)
c.2525-3401G>T (n.2525-3401G>T)
c.2627G>T
n.573G>T
c.392G>T
n.63G>T
c.7761G>T (p.Gln2587His)
c.7683G>T (p.Gln2561His)
c.4833G>T (p.Gln1611His)
c.7758G>T (p.Gln2586His)
c.7584G>T (p.Gln2528His)
c.5049G>T (p.Gln1683His)
c.4830G>T (p.Gln1610His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768300_108768301insATACA2660603563RANBP2c.2603-3401_2603-3400insATA (n.2603-3401_2603-3400insATA)
c.2525-3401_2525-3400insATA (n.2525-3401_2525-3400insATA)
c.2627_2628insATA
n.573_574insATA
c.392_393insATA
n.63_64insATA
c.7761_7762insATA (p.Gln2587_Ser2588insIle)
c.7683_7684insATA (p.Gln2561_Ser2562insIle)
c.4833_4834insATA (p.Gln1611_Ser1612insIle)
c.7758_7759insATA (p.Gln2586_Ser2587insIle)
c.7584_7585insATA (p.Gln2528_Ser2529insIle)
c.5049_5050insATA (p.Gln1683_Ser1684insIle)
c.4830_4831insATA (p.Gln1610_Ser1611insIle)
 gnomAD v4
2g.108768301T>ACA348080166RANBP2c.2603-3400T>A (n.2603-3400T>A)
c.2525-3400T>A (n.2525-3400T>A)
c.2628T>A
n.574T>A
c.393T>A
n.64T>A
c.7762T>A (p.Ser2588Thr)
c.7684T>A (p.Ser2562Thr)
c.4834T>A (p.Ser1612Thr)
c.7759T>A (p.Ser2587Thr)
c.7585T>A (p.Ser2529Thr)
c.5050T>A (p.Ser1684Thr)
c.4831T>A (p.Ser1611Thr)
2g.108768301T>CCA348080168RANBP2c.2603-3400T>C (n.2603-3400T>C)
c.2525-3400T>C (n.2525-3400T>C)
c.2628T>C
n.574T>C
c.393T>C
n.64T>C
c.7762T>C (p.Ser2588Pro)
c.7684T>C (p.Ser2562Pro)
c.4834T>C (p.Ser1612Pro)
c.7759T>C (p.Ser2587Pro)
c.7585T>C (p.Ser2529Pro)
c.5050T>C (p.Ser1684Pro)
c.4831T>C (p.Ser1611Pro)
2g.108768301T>GCA348080171RANBP2c.2603-3400T>G (n.2603-3400T>G)
c.2525-3400T>G (n.2525-3400T>G)
c.2628T>G
n.574T>G
c.393T>G
n.64T>G
c.7762T>G (p.Ser2588Ala)
c.7684T>G (p.Ser2562Ala)
c.4834T>G (p.Ser1612Ala)
c.7759T>G (p.Ser2587Ala)
c.7585T>G (p.Ser2529Ala)
c.5050T>G (p.Ser1684Ala)
c.4831T>G (p.Ser1611Ala)
2g.108768302C>ACA348080174RANBP2c.2603-3399C>A (n.2603-3399C>A)
c.2525-3399C>A (n.2525-3399C>A)
c.2629C>A
n.575C>A
c.394C>A
n.65C>A
c.7763C>A (p.Ser2588Tyr)
c.7685C>A (p.Ser2562Tyr)
c.4835C>A (p.Ser1612Tyr)
c.7760C>A (p.Ser2587Tyr)
c.7586C>A (p.Ser2529Tyr)
c.5051C>A (p.Ser1684Tyr)
c.4832C>A (p.Ser1611Tyr)
 gnomAD v4
2g.108768302C=CA1278292597RANBP2c.2603-3399C= (n.2603-3399C=)
c.2525-3399C= (n.2525-3399C=)
c.2629C=
n.575C=
c.394C=
n.65C=
c.7763C= (p.Ser2588=)
c.7685C= (p.Ser2562=)
c.4835C= (p.Ser1612=)
c.7760C= (p.Ser2587=)
c.7586C= (p.Ser2529=)
c.5051C= (p.Ser1684=)
c.4832C= (p.Ser1611=)
2g.108768302C>GCA348080176RANBP2c.2603-3399C>G (n.2603-3399C>G)
c.2525-3399C>G (n.2525-3399C>G)
c.2629C>G
n.575C>G
c.394C>G
n.65C>G
c.7763C>G (p.Ser2588Cys)
c.7685C>G (p.Ser2562Cys)
c.4835C>G (p.Ser1612Cys)
c.7760C>G (p.Ser2587Cys)
c.7586C>G (p.Ser2529Cys)
c.5051C>G (p.Ser1684Cys)
c.4832C>G (p.Ser1611Cys)
 gnomAD v4
2g.108768302C>TCA1823655RANBP2c.2603-3399C>T (n.2603-3399C>T)
c.2525-3399C>T (n.2525-3399C>T)
c.2629C>T
n.575C>T
c.394C>T
n.65C>T
c.7763C>T (p.Ser2588Phe)
c.7685C>T (p.Ser2562Phe)
c.4835C>T (p.Ser1612Phe)
c.7760C>T (p.Ser2587Phe)
c.7586C>T (p.Ser2529Phe)
c.5051C>T (p.Ser1684Phe)
c.4832C>T (p.Ser1611Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768302_108768303insAAACA2660603564RANBP2c.2603-3399_2603-3398insAAA (n.2603-3399_2603-3398insAAA)
c.2525-3399_2525-3398insAAA (n.2525-3399_2525-3398insAAA)
c.2629_2630insAAA
n.575_576insAAA
c.394_395insAAA
n.65_66insAAA
c.7763_7764insAAA (p.Ser2588_Ser2589insAsn)
c.7685_7686insAAA (p.Ser2562_Ser2563insAsn)
c.4835_4836insAAA (p.Ser1612_Ser1613insAsn)
c.7760_7761insAAA (p.Ser2587_Ser2588insAsn)
c.7586_7587insAAA (p.Ser2529_Ser2530insAsn)
c.5051_5052insAAA (p.Ser1684_Ser1685insAsn)
c.4832_4833insAAA (p.Ser1611_Ser1612insAsn)
 gnomAD v4
2g.108768303T>ACA428203947RANBP2c.2603-3398T>A (n.2603-3398T>A)
c.2525-3398T>A (n.2525-3398T>A)
c.2630T>A
n.576T>A
c.395T>A
n.66T>A
c.7764T>A (p.Ser2588=)
c.7686T>A (p.Ser2562=)
c.4836T>A (p.Ser1612=)
c.7761T>A (p.Ser2587=)
c.7587T>A (p.Ser2529=)
c.5052T>A (p.Ser1684=)
c.4833T>A (p.Ser1611=)
2g.108768303T>CCA428203948RANBP2c.2603-3398T>C (n.2603-3398T>C)
c.2525-3398T>C (n.2525-3398T>C)
c.2630T>C
n.576T>C
c.395T>C
n.66T>C
c.7764T>C (p.Ser2588=)
c.7686T>C (p.Ser2562=)
c.4836T>C (p.Ser1612=)
c.7761T>C (p.Ser2587=)
c.7587T>C (p.Ser2529=)
c.5052T>C (p.Ser1684=)
c.4833T>C (p.Ser1611=)
2g.108768303T>GCA428203949RANBP2c.2603-3398T>G (n.2603-3398T>G)
c.2525-3398T>G (n.2525-3398T>G)
c.2630T>G
n.576T>G
c.395T>G
n.66T>G
c.7764T>G (p.Ser2588=)
c.7686T>G (p.Ser2562=)
c.4836T>G (p.Ser1612=)
c.7761T>G (p.Ser2587=)
c.7587T>G (p.Ser2529=)
c.5052T>G (p.Ser1684=)
c.4833T>G (p.Ser1611=)
 gnomAD v4
2g.108768304T>ACA348080182RANBP2c.2603-3397T>A (n.2603-3397T>A)
c.2525-3397T>A (n.2525-3397T>A)
c.2631T>A
n.577T>A
c.396T>A
n.67T>A
c.7765T>A (p.Ser2589Thr)
c.7687T>A (p.Ser2563Thr)
c.4837T>A (p.Ser1613Thr)
c.7762T>A (p.Ser2588Thr)
c.7588T>A (p.Ser2530Thr)
c.5053T>A (p.Ser1685Thr)
c.4834T>A (p.Ser1612Thr)
2g.108768304T>CCA348080186RANBP2c.2603-3397T>C (n.2603-3397T>C)
c.2525-3397T>C (n.2525-3397T>C)
c.2631T>C
n.577T>C
c.396T>C
n.67T>C
c.7765T>C (p.Ser2589Pro)
c.7687T>C (p.Ser2563Pro)
c.4837T>C (p.Ser1613Pro)
c.7762T>C (p.Ser2588Pro)
c.7588T>C (p.Ser2530Pro)
c.5053T>C (p.Ser1685Pro)
c.4834T>C (p.Ser1612Pro)
2g.108768304T>GCA348080184RANBP2c.2603-3397T>G (n.2603-3397T>G)
c.2525-3397T>G (n.2525-3397T>G)
c.2631T>G
n.577T>G
c.396T>G
n.67T>G
c.7765T>G (p.Ser2589Ala)
c.7687T>G (p.Ser2563Ala)
c.4837T>G (p.Ser1613Ala)
c.7762T>G (p.Ser2588Ala)
c.7588T>G (p.Ser2530Ala)
c.5053T>G (p.Ser1685Ala)
c.4834T>G (p.Ser1612Ala)
2g.108768305C>ACA348080189RANBP2c.2603-3396C>A (n.2603-3396C>A)
c.2525-3396C>A (n.2525-3396C>A)
c.2632C>A
n.578C>A
c.397C>A
n.68C>A
c.7766C>A (p.Ser2589Ter)
c.7688C>A (p.Ser2563Ter)
c.4838C>A (p.Ser1613Ter)
c.7763C>A (p.Ser2588Ter)
c.7589C>A (p.Ser2530Ter)
c.5054C>A (p.Ser1685Ter)
c.4835C>A (p.Ser1612Ter)
2g.108768305C>GCA348080192RANBP2c.2603-3396C>G (n.2603-3396C>G)
c.2525-3396C>G (n.2525-3396C>G)
c.2632C>G
n.578C>G
c.397C>G
n.68C>G
c.7766C>G (p.Ser2589Ter)
c.7688C>G (p.Ser2563Ter)
c.4838C>G (p.Ser1613Ter)
c.7763C>G (p.Ser2588Ter)
c.7589C>G (p.Ser2530Ter)
c.5054C>G (p.Ser1685Ter)
c.4835C>G (p.Ser1612Ter)
2g.108768305C>TCA348080195RANBP2c.2603-3396C>T (n.2603-3396C>T)
c.2525-3396C>T (n.2525-3396C>T)
c.2632C>T
n.578C>T
c.397C>T
n.68C>T
c.7766C>T (p.Ser2589Leu)
c.7688C>T (p.Ser2563Leu)
c.4838C>T (p.Ser1613Leu)
c.7763C>T (p.Ser2588Leu)
c.7589C>T (p.Ser2530Leu)
c.5054C>T (p.Ser1685Leu)
c.4835C>T (p.Ser1612Leu)
 gnomAD v4
2g.108768306A>CCA428203953RANBP2c.2603-3395A>C (n.2603-3395A>C)
c.2525-3395A>C (n.2525-3395A>C)
c.2633A>C
n.579A>C
c.398A>C
n.69A>C
c.7767A>C (p.Ser2589=)
c.7689A>C (p.Ser2563=)
c.4839A>C (p.Ser1613=)
c.7764A>C (p.Ser2588=)
c.7590A>C (p.Ser2530=)
c.5055A>C (p.Ser1685=)
c.4836A>C (p.Ser1612=)
2g.108768306A>GCA428203955RANBP2c.2603-3395A>G (n.2603-3395A>G)
c.2525-3395A>G (n.2525-3395A>G)
c.2633A>G
n.579A>G
c.398A>G
n.69A>G
c.7767A>G (p.Ser2589=)
c.7689A>G (p.Ser2563=)
c.4839A>G (p.Ser1613=)
c.7764A>G (p.Ser2588=)
c.7590A>G (p.Ser2530=)
c.5055A>G (p.Ser1685=)
c.4836A>G (p.Ser1612=)
2g.108768306A>TCA428203954RANBP2c.2603-3395A>T (n.2603-3395A>T)
c.2525-3395A>T (n.2525-3395A>T)
c.2633A>T
n.579A>T
c.398A>T
n.69A>T
c.7767A>T (p.Ser2589=)
c.7689A>T (p.Ser2563=)
c.4839A>T (p.Ser1613=)
c.7764A>T (p.Ser2588=)
c.7590A>T (p.Ser2530=)
c.5055A>T (p.Ser1685=)
c.4836A>T (p.Ser1612=)
2g.108768307G>ACA348080199RANBP2c.2603-3394G>A (n.2603-3394G>A)
c.2525-3394G>A (n.2525-3394G>A)
c.2634G>A
n.580G>A
c.399G>A
n.70G>A
c.7768G>A (p.Asp2590Asn)
c.7690G>A (p.Asp2564Asn)
c.4840G>A (p.Asp1614Asn)
c.7765G>A (p.Asp2589Asn)
c.7591G>A (p.Asp2531Asn)
c.5056G>A (p.Asp1686Asn)
c.4837G>A (p.Asp1613Asn)
2g.108768307G>CCA348080201RANBP2c.2603-3394G>C (n.2603-3394G>C)
c.2525-3394G>C (n.2525-3394G>C)
c.2634G>C
n.580G>C
c.399G>C
n.70G>C
c.7768G>C (p.Asp2590His)
c.7690G>C (p.Asp2564His)
c.4840G>C (p.Asp1614His)
c.7765G>C (p.Asp2589His)
c.7591G>C (p.Asp2531His)
c.5056G>C (p.Asp1686His)
c.4837G>C (p.Asp1613His)
2g.108768307G>TCA348080204RANBP2c.2603-3394G>T (n.2603-3394G>T)
c.2525-3394G>T (n.2525-3394G>T)
c.2634G>T
n.580G>T
c.399G>T
n.70G>T
c.7768G>T (p.Asp2590Tyr)
c.7690G>T (p.Asp2564Tyr)
c.4840G>T (p.Asp1614Tyr)
c.7765G>T (p.Asp2589Tyr)
c.7591G>T (p.Asp2531Tyr)
c.5056G>T (p.Asp1686Tyr)
c.4837G>T (p.Asp1613Tyr)
2g.108768308A=CA1278292599RANBP2c.2603-3393A= (n.2603-3393A=)
c.2525-3393A= (n.2525-3393A=)
c.2635A=
n.581A=
c.400A=
n.71A=
c.7769A= (p.Asp2590=)
c.7691A= (p.Asp2564=)
c.4841A= (p.Asp1614=)
c.7766A= (p.Asp2589=)
c.7592A= (p.Asp2531=)
c.5057A= (p.Asp1686=)
c.4838A= (p.Asp1613=)
2g.108768308A>CCA348080208RANBP2c.2603-3393A>C (n.2603-3393A>C)
c.2525-3393A>C (n.2525-3393A>C)
c.2635A>C
n.581A>C
c.400A>C
n.71A>C
c.7769A>C (p.Asp2590Ala)
c.7691A>C (p.Asp2564Ala)
c.4841A>C (p.Asp1614Ala)
c.7766A>C (p.Asp2589Ala)
c.7592A>C (p.Asp2531Ala)
c.5057A>C (p.Asp1686Ala)
c.4838A>C (p.Asp1613Ala)
2g.108768308A>GCA348080210RANBP2c.2603-3393A>G (n.2603-3393A>G)
c.2525-3393A>G (n.2525-3393A>G)
c.2635A>G
n.581A>G
c.400A>G
n.71A>G
c.7769A>G (p.Asp2590Gly)
c.7691A>G (p.Asp2564Gly)
c.4841A>G (p.Asp1614Gly)
c.7766A>G (p.Asp2589Gly)
c.7592A>G (p.Asp2531Gly)
c.5057A>G (p.Asp1686Gly)
c.4838A>G (p.Asp1613Gly)
 dbSNP
2g.108768308A>TCA348080213RANBP2c.2603-3393A>T (n.2603-3393A>T)
c.2525-3393A>T (n.2525-3393A>T)
c.2635A>T
n.581A>T
c.400A>T
n.71A>T
c.7769A>T (p.Asp2590Val)
c.7691A>T (p.Asp2564Val)
c.4841A>T (p.Asp1614Val)
c.7766A>T (p.Asp2589Val)
c.7592A>T (p.Asp2531Val)
c.5057A>T (p.Asp1686Val)
c.4838A>T (p.Asp1613Val)
2g.108768309T>ACA348080216RANBP2c.2603-3392T>A (n.2603-3392T>A)
c.2525-3392T>A (n.2525-3392T>A)
c.2636T>A
n.582T>A
c.401T>A
n.72T>A
c.7770T>A (p.Asp2590Glu)
c.7692T>A (p.Asp2564Glu)
c.4842T>A (p.Asp1614Glu)
c.7767T>A (p.Asp2589Glu)
c.7593T>A (p.Asp2531Glu)
c.5058T>A (p.Asp1686Glu)
c.4839T>A (p.Asp1613Glu)
2g.108768309T>CCA53457829RANBP2c.2603-3392T>C (n.2603-3392T>C)
c.2525-3392T>C (n.2525-3392T>C)
c.2636T>C
n.582T>C
c.401T>C
n.72T>C
c.7770T>C (p.Asp2590=)
c.7692T>C (p.Asp2564=)
c.4842T>C (p.Asp1614=)
c.7767T>C (p.Asp2589=)
c.7593T>C (p.Asp2531=)
c.5058T>C (p.Asp1686=)
c.4839T>C (p.Asp1613=)
 dbSNP gnomAD v2 gnomAD v4
2g.108768309T>GCA348080219RANBP2c.2603-3392T>G (n.2603-3392T>G)
c.2525-3392T>G (n.2525-3392T>G)
c.2636T>G
n.582T>G
c.401T>G
n.72T>G
c.7770T>G (p.Asp2590Glu)
c.7692T>G (p.Asp2564Glu)
c.4842T>G (p.Asp1614Glu)
c.7767T>G (p.Asp2589Glu)
c.7593T>G (p.Asp2531Glu)
c.5058T>G (p.Asp1686Glu)
c.4839T>G (p.Asp1613Glu)
2g.108768309T=CA1278292601RANBP2c.2603-3392T= (n.2603-3392T=)
c.2525-3392T= (n.2525-3392T=)
c.2636T=
n.582T=
c.401T=
n.72T=
c.7770T= (p.Asp2590=)
c.7692T= (p.Asp2564=)
c.4842T= (p.Asp1614=)
c.7767T= (p.Asp2589=)
c.7593T= (p.Asp2531=)
c.5058T= (p.Asp1686=)
c.4839T= (p.Asp1613=)
2g.108768310A>CCA348080227RANBP2c.2603-3391A>C (n.2603-3391A>C)
c.2525-3391A>C (n.2525-3391A>C)
c.2637A>C
n.583A>C
c.402A>C
n.73A>C
c.7771A>C (p.Ser2591Arg)
c.7693A>C (p.Ser2565Arg)
c.4843A>C (p.Ser1615Arg)
c.7768A>C (p.Ser2590Arg)
c.7594A>C (p.Ser2532Arg)
c.5059A>C (p.Ser1687Arg)
c.4840A>C (p.Ser1614Arg)
2g.108768310A>GCA348080225RANBP2c.2603-3391A>G (n.2603-3391A>G)
c.2525-3391A>G (n.2525-3391A>G)
c.2637A>G
n.583A>G
c.402A>G
n.73A>G
c.7771A>G (p.Ser2591Gly)
c.7693A>G (p.Ser2565Gly)
c.4843A>G (p.Ser1615Gly)
c.7768A>G (p.Ser2590Gly)
c.7594A>G (p.Ser2532Gly)
c.5059A>G (p.Ser1687Gly)
c.4840A>G (p.Ser1614Gly)
2g.108768310A>TCA348080223RANBP2c.2603-3391A>T (n.2603-3391A>T)
c.2525-3391A>T (n.2525-3391A>T)
c.2637A>T
n.583A>T
c.402A>T
n.73A>T
c.7771A>T (p.Ser2591Cys)
c.7693A>T (p.Ser2565Cys)
c.4843A>T (p.Ser1615Cys)
c.7768A>T (p.Ser2590Cys)
c.7594A>T (p.Ser2532Cys)
c.5059A>T (p.Ser1687Cys)
c.4840A>T (p.Ser1614Cys)
2g.108768311G>ACA348080232RANBP2c.2603-3390G>A (n.2603-3390G>A)
c.2525-3390G>A (n.2525-3390G>A)
c.2638G>A
n.584G>A
c.403G>A
n.74G>A
c.7772G>A (p.Ser2591Asn)
c.7694G>A (p.Ser2565Asn)
c.4844G>A (p.Ser1615Asn)
c.7769G>A (p.Ser2590Asn)
c.7595G>A (p.Ser2532Asn)
c.5060G>A (p.Ser1687Asn)
c.4841G>A (p.Ser1614Asn)
2g.108768311G>CCA348080236RANBP2c.2603-3390G>C (n.2603-3390G>C)
c.2525-3390G>C (n.2525-3390G>C)
c.2638G>C
n.584G>C
c.403G>C
n.74G>C
c.7772G>C (p.Ser2591Thr)
c.7694G>C (p.Ser2565Thr)
c.4844G>C (p.Ser1615Thr)
c.7769G>C (p.Ser2590Thr)
c.7595G>C (p.Ser2532Thr)
c.5060G>C (p.Ser1687Thr)
c.4841G>C (p.Ser1614Thr)
2g.108768311G>TCA348080234RANBP2c.2603-3390G>T (n.2603-3390G>T)
c.2525-3390G>T (n.2525-3390G>T)
c.2638G>T
n.584G>T
c.403G>T
n.74G>T
c.7772G>T (p.Ser2591Ile)
c.7694G>T (p.Ser2565Ile)
c.4844G>T (p.Ser1615Ile)
c.7769G>T (p.Ser2590Ile)
c.7595G>T (p.Ser2532Ile)
c.5060G>T (p.Ser1687Ile)
c.4841G>T (p.Ser1614Ile)
2g.108768312C>ACA348080240RANBP2c.2603-3389C>A (n.2603-3389C>A)
c.2525-3389C>A (n.2525-3389C>A)
c.2639C>A
n.585C>A
c.404C>A
n.75C>A
c.7773C>A (p.Ser2591Arg)
c.7695C>A (p.Ser2565Arg)
c.4845C>A (p.Ser1615Arg)
c.7770C>A (p.Ser2590Arg)
c.7596C>A (p.Ser2532Arg)
c.5061C>A (p.Ser1687Arg)
c.4842C>A (p.Ser1614Arg)
2g.108768312C>GCA348080243RANBP2c.2603-3389C>G (n.2603-3389C>G)
c.2525-3389C>G (n.2525-3389C>G)
c.2639C>G
n.585C>G
c.404C>G
n.75C>G
c.7773C>G (p.Ser2591Arg)
c.7695C>G (p.Ser2565Arg)
c.4845C>G (p.Ser1615Arg)
c.7770C>G (p.Ser2590Arg)
c.7596C>G (p.Ser2532Arg)
c.5061C>G (p.Ser1687Arg)
c.4842C>G (p.Ser1614Arg)
2g.108768312C>TCA428203961RANBP2c.2603-3389C>T (n.2603-3389C>T)
c.2525-3389C>T (n.2525-3389C>T)
c.2639C>T
n.585C>T
c.404C>T
n.75C>T
c.7773C>T (p.Ser2591=)
c.7695C>T (p.Ser2565=)
c.4845C>T (p.Ser1615=)
c.7770C>T (p.Ser2590=)
c.7596C>T (p.Ser2532=)
c.5061C>T (p.Ser1687=)
c.4842C>T (p.Ser1614=)
 gnomAD v4
2g.108768313A>CCA348080245RANBP2c.2603-3388A>C (n.2603-3388A>C)
c.2525-3388A>C (n.2525-3388A>C)
c.2640A>C
n.586A>C
c.405A>C
n.76A>C
c.7774A>C (p.Lys2592Gln)
c.7696A>C (p.Lys2566Gln)
c.4846A>C (p.Lys1616Gln)
c.7771A>C (p.Lys2591Gln)
c.7597A>C (p.Lys2533Gln)
c.5062A>C (p.Lys1688Gln)
c.4843A>C (p.Lys1615Gln)
2g.108768313A>GCA348080247RANBP2c.2603-3388A>G (n.2603-3388A>G)
c.2525-3388A>G (n.2525-3388A>G)
c.2640A>G
n.586A>G
c.405A>G
n.76A>G
c.7774A>G (p.Lys2592Glu)
c.7696A>G (p.Lys2566Glu)
c.4846A>G (p.Lys1616Glu)
c.7771A>G (p.Lys2591Glu)
c.7597A>G (p.Lys2533Glu)
c.5062A>G (p.Lys1688Glu)
c.4843A>G (p.Lys1615Glu)
 gnomAD v4
2g.108768313A>TCA348080249RANBP2c.2603-3388A>T (n.2603-3388A>T)
c.2525-3388A>T (n.2525-3388A>T)
c.2640A>T
n.586A>T
c.405A>T
n.76A>T
c.7774A>T (p.Lys2592Ter)
c.7696A>T (p.Lys2566Ter)
c.4846A>T (p.Lys1616Ter)
c.7771A>T (p.Lys2591Ter)
c.7597A>T (p.Lys2533Ter)
c.5062A>T (p.Lys1688Ter)
c.4843A>T (p.Lys1615Ter)
2g.108768314A=CA1278292603RANBP2c.2603-3387A= (n.2603-3387A=)
c.2525-3387A= (n.2525-3387A=)
c.2641A=
n.587A=
c.406A=
n.77A=
c.7775A= (p.Lys2592=)
c.7697A= (p.Lys2566=)
c.4847A= (p.Lys1616=)
c.7772A= (p.Lys2591=)
c.7598A= (p.Lys2533=)
c.5063A= (p.Lys1688=)
c.4844A= (p.Lys1615=)
2g.108768314A>CCA348080253RANBP2c.2603-3387A>C (n.2603-3387A>C)
c.2525-3387A>C (n.2525-3387A>C)
c.2641A>C
n.587A>C
c.406A>C
n.77A>C
c.7775A>C (p.Lys2592Thr)
c.7697A>C (p.Lys2566Thr)
c.4847A>C (p.Lys1616Thr)
c.7772A>C (p.Lys2591Thr)
c.7598A>C (p.Lys2533Thr)
c.5063A>C (p.Lys1688Thr)
c.4844A>C (p.Lys1615Thr)
2g.108768314A>GCA348080254RANBP2c.2603-3387A>G (n.2603-3387A>G)
c.2525-3387A>G (n.2525-3387A>G)
c.2641A>G
n.587A>G
c.406A>G
n.77A>G
c.7775A>G (p.Lys2592Arg)
c.7697A>G (p.Lys2566Arg)
c.4847A>G (p.Lys1616Arg)
c.7772A>G (p.Lys2591Arg)
c.7598A>G (p.Lys2533Arg)
c.5063A>G (p.Lys1688Arg)
c.4844A>G (p.Lys1615Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.108768314A>TCA348080257RANBP2c.2603-3387A>T (n.2603-3387A>T)
c.2525-3387A>T (n.2525-3387A>T)
c.2641A>T
n.587A>T
c.406A>T
n.77A>T
c.7775A>T (p.Lys2592Ile)
c.7697A>T (p.Lys2566Ile)
c.4847A>T (p.Lys1616Ile)
c.7772A>T (p.Lys2591Ile)
c.7598A>T (p.Lys2533Ile)
c.5063A>T (p.Lys1688Ile)
c.4844A>T (p.Lys1615Ile)
2g.108768315A=CA1278292605RANBP2c.2603-3386A= (n.2603-3386A=)
c.2525-3386A= (n.2525-3386A=)
c.2642A=
n.588A=
c.407A=
n.78A=
c.7776A= (p.Lys2592=)
c.7698A= (p.Lys2566=)
c.4848A= (p.Lys1616=)
c.7773A= (p.Lys2591=)
c.7599A= (p.Lys2533=)
c.5064A= (p.Lys1688=)
c.4845A= (p.Lys1615=)
2g.108768315A>CCA348080260RANBP2c.2603-3386A>C (n.2603-3386A>C)
c.2525-3386A>C (n.2525-3386A>C)
c.2642A>C
n.588A>C
c.407A>C
n.78A>C
c.7776A>C (p.Lys2592Asn)
c.7698A>C (p.Lys2566Asn)
c.4848A>C (p.Lys1616Asn)
c.7773A>C (p.Lys2591Asn)
c.7599A>C (p.Lys2533Asn)
c.5064A>C (p.Lys1688Asn)
c.4845A>C (p.Lys1615Asn)
2g.108768315A>GCA428203965RANBP2c.2603-3386A>G (n.2603-3386A>G)
c.2525-3386A>G (n.2525-3386A>G)
c.2642A>G
n.588A>G
c.407A>G
n.78A>G
c.7776A>G (p.Lys2592=)
c.7698A>G (p.Lys2566=)
c.4848A>G (p.Lys1616=)
c.7773A>G (p.Lys2591=)
c.7599A>G (p.Lys2533=)
c.5064A>G (p.Lys1688=)
c.4845A>G (p.Lys1615=)
2g.108768315A>TCA348080261RANBP2c.2603-3386A>T (n.2603-3386A>T)
c.2525-3386A>T (n.2525-3386A>T)
c.2642A>T
n.588A>T
c.407A>T
n.78A>T
c.7776A>T (p.Lys2592Asn)
c.7698A>T (p.Lys2566Asn)
c.4848A>T (p.Lys1616Asn)
c.7773A>T (p.Lys2591Asn)
c.7599A>T (p.Lys2533Asn)
c.5064A>T (p.Lys1688Asn)
c.4845A>T (p.Lys1615Asn)
 dbSNP gnomAD v4
2g.108768316G>ACA348080263RANBP2c.2603-3385G>A (n.2603-3385G>A)
c.2525-3385G>A (n.2525-3385G>A)
c.2643G>A
n.589G>A
c.408G>A
n.79G>A
c.7777G>A (p.Val2593Ile)
c.7699G>A (p.Val2567Ile)
c.4849G>A (p.Val1617Ile)
c.7774G>A (p.Val2592Ile)
c.7600G>A (p.Val2534Ile)
c.5065G>A (p.Val1689Ile)
c.4846G>A (p.Val1616Ile)
2g.108768316G>CCA348080265RANBP2c.2603-3385G>C (n.2603-3385G>C)
c.2525-3385G>C (n.2525-3385G>C)
c.2643G>C
n.589G>C
c.408G>C
n.79G>C
c.7777G>C (p.Val2593Leu)
c.7699G>C (p.Val2567Leu)
c.4849G>C (p.Val1617Leu)
c.7774G>C (p.Val2592Leu)
c.7600G>C (p.Val2534Leu)
c.5065G>C (p.Val1689Leu)
c.4846G>C (p.Val1616Leu)
2g.108768316G>TCA348080267RANBP2c.2603-3385G>T (n.2603-3385G>T)
c.2525-3385G>T (n.2525-3385G>T)
c.2643G>T
n.589G>T
c.408G>T
n.79G>T
c.7777G>T (p.Val2593Phe)
c.7699G>T (p.Val2567Phe)
c.4849G>T (p.Val1617Phe)
c.7774G>T (p.Val2592Phe)
c.7600G>T (p.Val2534Phe)
c.5065G>T (p.Val1689Phe)
c.4846G>T (p.Val1616Phe)
2g.108768317T>ACA348080271RANBP2c.2603-3384T>A (n.2603-3384T>A)
c.2525-3384T>A (n.2525-3384T>A)
c.2644T>A
n.590T>A
c.409T>A
n.80T>A
c.7778T>A (p.Val2593Asp)
c.7700T>A (p.Val2567Asp)
c.4850T>A (p.Val1617Asp)
c.7775T>A (p.Val2592Asp)
c.7601T>A (p.Val2534Asp)
c.5066T>A (p.Val1689Asp)
c.4847T>A (p.Val1616Asp)
2g.108768317T>CCA348080276RANBP2c.2603-3384T>C (n.2603-3384T>C)
c.2525-3384T>C (n.2525-3384T>C)
c.2644T>C
n.590T>C
c.409T>C
n.80T>C
c.7778T>C (p.Val2593Ala)
c.7700T>C (p.Val2567Ala)
c.4850T>C (p.Val1617Ala)
c.7775T>C (p.Val2592Ala)
c.7601T>C (p.Val2534Ala)
c.5066T>C (p.Val1689Ala)
c.4847T>C (p.Val1616Ala)
2g.108768317T>GCA348080274RANBP2c.2603-3384T>G (n.2603-3384T>G)
c.2525-3384T>G (n.2525-3384T>G)
c.2644T>G
n.590T>G
c.409T>G
n.80T>G
c.7778T>G (p.Val2593Gly)
c.7700T>G (p.Val2567Gly)
c.4850T>G (p.Val1617Gly)
c.7775T>G (p.Val2592Gly)
c.7601T>G (p.Val2534Gly)
c.5066T>G (p.Val1689Gly)
c.4847T>G (p.Val1616Gly)
2g.108768318C>ACA428203972RANBP2c.2603-3383C>A (n.2603-3383C>A)
c.2525-3383C>A (n.2525-3383C>A)
c.2645C>A
n.591C>A
c.410C>A
n.81C>A
c.7779C>A (p.Val2593=)
c.7701C>A (p.Val2567=)
c.4851C>A (p.Val1617=)
c.7776C>A (p.Val2592=)
c.7602C>A (p.Val2534=)
c.5067C>A (p.Val1689=)
c.4848C>A (p.Val1616=)
2g.108768318C=CA1278292607RANBP2c.2603-3383C= (n.2603-3383C=)
c.2525-3383C= (n.2525-3383C=)
c.2645C=
n.591C=
c.410C=
n.81C=
c.7779C= (p.Val2593=)
c.7701C= (p.Val2567=)
c.4851C= (p.Val1617=)
c.7776C= (p.Val2592=)
c.7602C= (p.Val2534=)
c.5067C= (p.Val1689=)
c.4848C= (p.Val1616=)
2g.108768318C>GCA1823656RANBP2c.2603-3383C>G (n.2603-3383C>G)
c.2525-3383C>G (n.2525-3383C>G)
c.2645C>G
n.591C>G
c.410C>G
n.81C>G
c.7779C>G (p.Val2593=)
c.7701C>G (p.Val2567=)
c.4851C>G (p.Val1617=)
c.7776C>G (p.Val2592=)
c.7602C>G (p.Val2534=)
c.5067C>G (p.Val1689=)
c.4848C>G (p.Val1616=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768318C>TCA428203973RANBP2c.2603-3383C>T (n.2603-3383C>T)
c.2525-3383C>T (n.2525-3383C>T)
c.2645C>T
n.591C>T
c.410C>T
n.81C>T
c.7779C>T (p.Val2593=)
c.7701C>T (p.Val2567=)
c.4851C>T (p.Val1617=)
c.7776C>T (p.Val2592=)
c.7602C>T (p.Val2534=)
c.5067C>T (p.Val1689=)
c.4848C>T (p.Val1616=)
2g.108768319A>CCA348080280RANBP2c.2603-3382A>C (n.2603-3382A>C)
c.2525-3382A>C (n.2525-3382A>C)
c.2646A>C
n.592A>C
c.411A>C
n.82A>C
c.7780A>C (p.Lys2594Gln)
c.7702A>C (p.Lys2568Gln)
c.4852A>C (p.Lys1618Gln)
c.7777A>C (p.Lys2593Gln)
c.7603A>C (p.Lys2535Gln)
c.5068A>C (p.Lys1690Gln)
c.4849A>C (p.Lys1617Gln)
2g.108768319A>GCA348080282RANBP2c.2603-3382A>G (n.2603-3382A>G)
c.2525-3382A>G (n.2525-3382A>G)
c.2646A>G
n.592A>G
c.411A>G
n.82A>G
c.7780A>G (p.Lys2594Glu)
c.7702A>G (p.Lys2568Glu)
c.4852A>G (p.Lys1618Glu)
c.7777A>G (p.Lys2593Glu)
c.7603A>G (p.Lys2535Glu)
c.5068A>G (p.Lys1690Glu)
c.4849A>G (p.Lys1617Glu)
2g.108768319A>TCA348080284RANBP2c.2603-3382A>T (n.2603-3382A>T)
c.2525-3382A>T (n.2525-3382A>T)
c.2646A>T
n.592A>T
c.411A>T
n.82A>T
c.7780A>T (p.Lys2594Ter)
c.7702A>T (p.Lys2568Ter)
c.4852A>T (p.Lys1618Ter)
c.7777A>T (p.Lys2593Ter)
c.7603A>T (p.Lys2535Ter)
c.5068A>T (p.Lys1690Ter)
c.4849A>T (p.Lys1617Ter)
2g.108768320A>CCA348080289RANBP2c.2603-3381A>C (n.2603-3381A>C)
c.2525-3381A>C (n.2525-3381A>C)
c.2647A>C
n.593A>C
c.412A>C
n.83A>C
c.7781A>C (p.Lys2594Thr)
c.7703A>C (p.Lys2568Thr)
c.4853A>C (p.Lys1618Thr)
c.7778A>C (p.Lys2593Thr)
c.7604A>C (p.Lys2535Thr)
c.5069A>C (p.Lys1690Thr)
c.4850A>C (p.Lys1617Thr)
2g.108768320A>GCA348080290RANBP2c.2603-3381A>G (n.2603-3381A>G)
c.2525-3381A>G (n.2525-3381A>G)
c.2647A>G
n.593A>G
c.412A>G
n.83A>G
c.7781A>G (p.Lys2594Arg)
c.7703A>G (p.Lys2568Arg)
c.4853A>G (p.Lys1618Arg)
c.7778A>G (p.Lys2593Arg)
c.7604A>G (p.Lys2535Arg)
c.5069A>G (p.Lys1690Arg)
c.4850A>G (p.Lys1617Arg)
2g.108768320A>TCA348080291RANBP2c.2603-3381A>T (n.2603-3381A>T)
c.2525-3381A>T (n.2525-3381A>T)
c.2647A>T
n.593A>T
c.412A>T
n.83A>T
c.7781A>T (p.Lys2594Ile)
c.7703A>T (p.Lys2568Ile)
c.4853A>T (p.Lys1618Ile)
c.7778A>T (p.Lys2593Ile)
c.7604A>T (p.Lys2535Ile)
c.5069A>T (p.Lys1690Ile)
c.4850A>T (p.Lys1617Ile)
2g.108768321A>CCA348080296RANBP2c.2603-3380A>C (n.2603-3380A>C)
c.2525-3380A>C (n.2525-3380A>C)
c.2648A>C
n.594A>C
c.413A>C
n.84A>C
c.7782A>C (p.Lys2594Asn)
c.7704A>C (p.Lys2568Asn)
c.4854A>C (p.Lys1618Asn)
c.7779A>C (p.Lys2593Asn)
c.7605A>C (p.Lys2535Asn)
c.5070A>C (p.Lys1690Asn)
c.4851A>C (p.Lys1617Asn)
2g.108768321A>GCA428203978RANBP2c.2603-3380A>G (n.2603-3380A>G)
c.2525-3380A>G (n.2525-3380A>G)
c.2648A>G
n.594A>G
c.413A>G
n.84A>G
c.7782A>G (p.Lys2594=)
c.7704A>G (p.Lys2568=)
c.4854A>G (p.Lys1618=)
c.7779A>G (p.Lys2593=)
c.7605A>G (p.Lys2535=)
c.5070A>G (p.Lys1690=)
c.4851A>G (p.Lys1617=)
2g.108768321A>TCA348080298RANBP2c.2603-3380A>T (n.2603-3380A>T)
c.2525-3380A>T (n.2525-3380A>T)
c.2648A>T
n.594A>T
c.413A>T
n.84A>T
c.7782A>T (p.Lys2594Asn)
c.7704A>T (p.Lys2568Asn)
c.4854A>T (p.Lys1618Asn)
c.7779A>T (p.Lys2593Asn)
c.7605A>T (p.Lys2535Asn)
c.5070A>T (p.Lys1690Asn)
c.4851A>T (p.Lys1617Asn)
2g.108768322A>CCA348080305RANBP2c.2603-3379A>C (n.2603-3379A>C)
c.2525-3379A>C (n.2525-3379A>C)
c.2649A>C
n.595A>C
c.414A>C
n.85A>C
c.7783A>C (p.Asn2595His)
c.7705A>C (p.Asn2569His)
c.4855A>C (p.Asn1619His)
c.7780A>C (p.Asn2594His)
c.7606A>C (p.Asn2536His)
c.5071A>C (p.Asn1691His)
c.4852A>C (p.Asn1618His)
2g.108768322A>GCA348080303RANBP2c.2603-3379A>G (n.2603-3379A>G)
c.2525-3379A>G (n.2525-3379A>G)
c.2649A>G
n.595A>G
c.414A>G
n.85A>G
c.7783A>G (p.Asn2595Asp)
c.7705A>G (p.Asn2569Asp)
c.4855A>G (p.Asn1619Asp)
c.7780A>G (p.Asn2594Asp)
c.7606A>G (p.Asn2536Asp)
c.5071A>G (p.Asn1691Asp)
c.4852A>G (p.Asn1618Asp)
2g.108768322A>TCA348080301RANBP2c.2603-3379A>T (n.2603-3379A>T)
c.2525-3379A>T (n.2525-3379A>T)
c.2649A>T
n.595A>T
c.414A>T
n.85A>T
c.7783A>T (p.Asn2595Tyr)
c.7705A>T (p.Asn2569Tyr)
c.4855A>T (p.Asn1619Tyr)
c.7780A>T (p.Asn2594Tyr)
c.7606A>T (p.Asn2536Tyr)
c.5071A>T (p.Asn1691Tyr)
c.4852A>T (p.Asn1618Tyr)
2g.108768323A>CCA348080310RANBP2c.2603-3378A>C (n.2603-3378A>C)
c.2525-3378A>C (n.2525-3378A>C)
c.2650A>C
n.596A>C
c.415A>C
n.86A>C
c.7784A>C (p.Asn2595Thr)
c.7706A>C (p.Asn2569Thr)
c.4856A>C (p.Asn1619Thr)
c.7781A>C (p.Asn2594Thr)
c.7607A>C (p.Asn2536Thr)
c.5072A>C (p.Asn1691Thr)
c.4853A>C (p.Asn1618Thr)
 COSMIC
2g.108768323A>GCA348080311RANBP2c.2603-3378A>G (n.2603-3378A>G)
c.2525-3378A>G (n.2525-3378A>G)
c.2650A>G
n.596A>G
c.415A>G
n.86A>G
c.7784A>G (p.Asn2595Ser)
c.7706A>G (p.Asn2569Ser)
c.4856A>G (p.Asn1619Ser)
c.7781A>G (p.Asn2594Ser)
c.7607A>G (p.Asn2536Ser)
c.5072A>G (p.Asn1691Ser)
c.4853A>G (p.Asn1618Ser)
2g.108768323A>TCA348080313RANBP2c.2603-3378A>T (n.2603-3378A>T)
c.2525-3378A>T (n.2525-3378A>T)
c.2650A>T
n.596A>T
c.415A>T
n.86A>T
c.7784A>T (p.Asn2595Ile)
c.7706A>T (p.Asn2569Ile)
c.4856A>T (p.Asn1619Ile)
c.7781A>T (p.Asn2594Ile)
c.7607A>T (p.Asn2536Ile)
c.5072A>T (p.Asn1691Ile)
c.4853A>T (p.Asn1618Ile)
2g.108768324T>ACA348080318RANBP2c.2603-3377T>A (n.2603-3377T>A)
c.2525-3377T>A (n.2525-3377T>A)
c.2651T>A
n.597T>A
c.416T>A
n.87T>A
c.7785T>A (p.Asn2595Lys)
c.7707T>A (p.Asn2569Lys)
c.4857T>A (p.Asn1619Lys)
c.7782T>A (p.Asn2594Lys)
c.7608T>A (p.Asn2536Lys)
c.5073T>A (p.Asn1691Lys)
c.4854T>A (p.Asn1618Lys)
2g.108768324T>CCA428203990RANBP2c.2603-3377T>C (n.2603-3377T>C)
c.2525-3377T>C (n.2525-3377T>C)
c.2651T>C
n.597T>C
c.416T>C
n.87T>C
c.7785T>C (p.Asn2595=)
c.7707T>C (p.Asn2569=)
c.4857T>C (p.Asn1619=)
c.7782T>C (p.Asn2594=)
c.7608T>C (p.Asn2536=)
c.5073T>C (p.Asn1691=)
c.4854T>C (p.Asn1618=)
2g.108768324T>GCA348080320RANBP2c.2603-3377T>G (n.2603-3377T>G)
c.2525-3377T>G (n.2525-3377T>G)
c.2651T>G
n.597T>G
c.416T>G
n.87T>G
c.7785T>G (p.Asn2595Lys)
c.7707T>G (p.Asn2569Lys)
c.4857T>G (p.Asn1619Lys)
c.7782T>G (p.Asn2594Lys)
c.7608T>G (p.Asn2536Lys)
c.5073T>G (p.Asn1691Lys)
c.4854T>G (p.Asn1618Lys)
2g.108768325C>ACA348080329RANBP2c.2603-3376C>A (n.2603-3376C>A)
c.2525-3376C>A (n.2525-3376C>A)
c.2652C>A
n.598C>A
c.417C>A
n.88C>A
c.7786C>A (p.Leu2596Ile)
c.7708C>A (p.Leu2570Ile)
c.4858C>A (p.Leu1620Ile)
c.7783C>A (p.Leu2595Ile)
c.7609C>A (p.Leu2537Ile)
c.5074C>A (p.Leu1692Ile)
c.4855C>A (p.Leu1619Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.108768325C=CA1278292610RANBP2c.2603-3376C= (n.2603-3376C=)
c.2525-3376C= (n.2525-3376C=)
c.2652C=
n.598C=
c.417C=
n.88C=
c.7786C= (p.Leu2596=)
c.7708C= (p.Leu2570=)
c.4858C= (p.Leu1620=)
c.7783C= (p.Leu2595=)
c.7609C= (p.Leu2537=)
c.5074C= (p.Leu1692=)
c.4855C= (p.Leu1619=)
2g.108768325C>GCA348080327RANBP2c.2603-3376C>G (n.2603-3376C>G)
c.2525-3376C>G (n.2525-3376C>G)
c.2652C>G
n.598C>G
c.417C>G
n.88C>G
c.7786C>G (p.Leu2596Val)
c.7708C>G (p.Leu2570Val)
c.4858C>G (p.Leu1620Val)
c.7783C>G (p.Leu2595Val)
c.7609C>G (p.Leu2537Val)
c.5074C>G (p.Leu1692Val)
c.4855C>G (p.Leu1619Val)
 COSMIC
2g.108768325C>TCA348080324RANBP2c.2603-3376C>T (n.2603-3376C>T)
c.2525-3376C>T (n.2525-3376C>T)
c.2652C>T
n.598C>T
c.417C>T
n.88C>T
c.7786C>T (p.Leu2596Phe)
c.7708C>T (p.Leu2570Phe)
c.4858C>T (p.Leu1620Phe)
c.7783C>T (p.Leu2595Phe)
c.7609C>T (p.Leu2537Phe)
c.5074C>T (p.Leu1692Phe)
c.4855C>T (p.Leu1619Phe)
 gnomAD v4 COSMIC
2g.108768326T>ACA348080332RANBP2c.2603-3375T>A (n.2603-3375T>A)
c.2525-3375T>A (n.2525-3375T>A)
c.2653T>A
n.599T>A
c.418T>A
n.89T>A
c.7787T>A (p.Leu2596His)
c.7709T>A (p.Leu2570His)
c.4859T>A (p.Leu1620His)
c.7784T>A (p.Leu2595His)
c.7610T>A (p.Leu2537His)
c.5075T>A (p.Leu1692His)
c.4856T>A (p.Leu1619His)
2g.108768326T>CCA348080334RANBP2c.2603-3375T>C (n.2603-3375T>C)
c.2525-3375T>C (n.2525-3375T>C)
c.2653T>C
n.599T>C
c.418T>C
n.89T>C
c.7787T>C (p.Leu2596Pro)
c.7709T>C (p.Leu2570Pro)
c.4859T>C (p.Leu1620Pro)
c.7784T>C (p.Leu2595Pro)
c.7610T>C (p.Leu2537Pro)
c.5075T>C (p.Leu1692Pro)
c.4856T>C (p.Leu1619Pro)
2g.108768326T>GCA348080337RANBP2c.2603-3375T>G (n.2603-3375T>G)
c.2525-3375T>G (n.2525-3375T>G)
c.2653T>G
n.599T>G
c.418T>G
n.89T>G
c.7787T>G (p.Leu2596Arg)
c.7709T>G (p.Leu2570Arg)
c.4859T>G (p.Leu1620Arg)
c.7784T>G (p.Leu2595Arg)
c.7610T>G (p.Leu2537Arg)
c.5075T>G (p.Leu1692Arg)
c.4856T>G (p.Leu1619Arg)
 gnomAD v4
2g.108768327C>ACA428203997RANBP2c.2603-3374C>A (n.2603-3374C>A)
c.2525-3374C>A (n.2525-3374C>A)
c.2654C>A
n.600C>A
c.419C>A
n.90C>A
c.7788C>A (p.Leu2596=)
c.7710C>A (p.Leu2570=)
c.4860C>A (p.Leu1620=)
c.7785C>A (p.Leu2595=)
c.7611C>A (p.Leu2537=)
c.5076C>A (p.Leu1692=)
c.4857C>A (p.Leu1619=)
2g.108768327C>GCA428203999RANBP2c.2603-3374C>G (n.2603-3374C>G)
c.2525-3374C>G (n.2525-3374C>G)
c.2654C>G
n.600C>G
c.419C>G
n.90C>G
c.7788C>G (p.Leu2596=)
c.7710C>G (p.Leu2570=)
c.4860C>G (p.Leu1620=)
c.7785C>G (p.Leu2595=)
c.7611C>G (p.Leu2537=)
c.5076C>G (p.Leu1692=)
c.4857C>G (p.Leu1619=)
 gnomAD v4
2g.108768327C>TCA428204000RANBP2c.2603-3374C>T (n.2603-3374C>T)
c.2525-3374C>T (n.2525-3374C>T)
c.2654C>T
n.600C>T
c.419C>T
n.90C>T
c.7788C>T (p.Leu2596=)
c.7710C>T (p.Leu2570=)
c.4860C>T (p.Leu1620=)
c.7785C>T (p.Leu2595=)
c.7611C>T (p.Leu2537=)
c.5076C>T (p.Leu1692=)
c.4857C>T (p.Leu1619=)
2g.108768328T>ACA348080341RANBP2c.2603-3373T>A (n.2603-3373T>A)
c.2525-3373T>A (n.2525-3373T>A)
c.2655T>A
n.601T>A
c.420T>A
n.91T>A
c.7789T>A (p.Phe2597Ile)
c.7711T>A (p.Phe2571Ile)
c.4861T>A (p.Phe1621Ile)
c.7786T>A (p.Phe2596Ile)
c.7612T>A (p.Phe2538Ile)
c.5077T>A (p.Phe1693Ile)
c.4858T>A (p.Phe1620Ile)
2g.108768328T>CCA348080343RANBP2c.2603-3373T>C (n.2603-3373T>C)
c.2525-3373T>C (n.2525-3373T>C)
c.2655T>C
n.601T>C
c.420T>C
n.91T>C
c.7789T>C (p.Phe2597Leu)
c.7711T>C (p.Phe2571Leu)
c.4861T>C (p.Phe1621Leu)
c.7786T>C (p.Phe2596Leu)
c.7612T>C (p.Phe2538Leu)
c.5077T>C (p.Phe1693Leu)
c.4858T>C (p.Phe1620Leu)
 gnomAD v4
2g.108768328T>GCA348080346RANBP2c.2603-3373T>G (n.2603-3373T>G)
c.2525-3373T>G (n.2525-3373T>G)
c.2655T>G
n.601T>G
c.420T>G
n.91T>G
c.7789T>G (p.Phe2597Val)
c.7711T>G (p.Phe2571Val)
c.4861T>G (p.Phe1621Val)
c.7786T>G (p.Phe2596Val)
c.7612T>G (p.Phe2538Val)
c.5077T>G (p.Phe1693Val)
c.4858T>G (p.Phe1620Val)
2g.108768329T>ACA348080349RANBP2c.2603-3372T>A (n.2603-3372T>A)
c.2525-3372T>A (n.2525-3372T>A)
c.2656T>A
n.602T>A
c.421T>A
n.92T>A
c.7790T>A (p.Phe2597Tyr)
c.7712T>A (p.Phe2571Tyr)
c.4862T>A (p.Phe1621Tyr)
c.7787T>A (p.Phe2596Tyr)
c.7613T>A (p.Phe2538Tyr)
c.5078T>A (p.Phe1693Tyr)
c.4859T>A (p.Phe1620Tyr)
2g.108768329T>CCA1823657RANBP2c.2603-3372T>C (n.2603-3372T>C)
c.2525-3372T>C (n.2525-3372T>C)
c.2656T>C
n.602T>C
c.421T>C
n.92T>C
c.7790T>C (p.Phe2597Ser)
c.7712T>C (p.Phe2571Ser)
c.4862T>C (p.Phe1621Ser)
c.7787T>C (p.Phe2596Ser)
c.7613T>C (p.Phe2538Ser)
c.5078T>C (p.Phe1693Ser)
c.4859T>C (p.Phe1620Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108768329T>GCA1823658RANBP2c.2603-3372T>G (n.2603-3372T>G)
c.2525-3372T>G (n.2525-3372T>G)
c.2656T>G
n.602T>G
c.421T>G
n.92T>G
c.7790T>G (p.Phe2597Cys)
c.7712T>G (p.Phe2571Cys)
c.4862T>G (p.Phe1621Cys)
c.7787T>G (p.Phe2596Cys)
c.7613T>G (p.Phe2538Cys)
c.5078T>G (p.Phe1693Cys)
c.4859T>G (p.Phe1620Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768329T=CA1278292612RANBP2c.2603-3372T= (n.2603-3372T=)
c.2525-3372T= (n.2525-3372T=)
c.2656T=
n.602T=
c.421T=
n.92T=
c.7790T= (p.Phe2597=)
c.7712T= (p.Phe2571=)
c.4862T= (p.Phe1621=)
c.7787T= (p.Phe2596=)
c.7613T= (p.Phe2538=)
c.5078T= (p.Phe1693=)
c.4859T= (p.Phe1620=)
2g.108768330T>ACA348080354RANBP2c.2603-3371T>A (n.2603-3371T>A)
c.2525-3371T>A (n.2525-3371T>A)
c.2657T>A
n.603T>A
c.422T>A
n.93T>A
c.7791T>A (p.Phe2597Leu)
c.7713T>A (p.Phe2571Leu)
c.4863T>A (p.Phe1621Leu)
c.7788T>A (p.Phe2596Leu)
c.7614T>A (p.Phe2538Leu)
c.5079T>A (p.Phe1693Leu)
c.4860T>A (p.Phe1620Leu)
2g.108768330T>CCA428204005RANBP2c.2603-3371T>C (n.2603-3371T>C)
c.2525-3371T>C (n.2525-3371T>C)
c.2657T>C
n.603T>C
c.422T>C
n.93T>C
c.7791T>C (p.Phe2597=)
c.7713T>C (p.Phe2571=)
c.4863T>C (p.Phe1621=)
c.7788T>C (p.Phe2596=)
c.7614T>C (p.Phe2538=)
c.5079T>C (p.Phe1693=)
c.4860T>C (p.Phe1620=)
 dbSNP gnomAD v4
2g.108768330T>GCA348080355RANBP2c.2603-3371T>G (n.2603-3371T>G)
c.2525-3371T>G (n.2525-3371T>G)
c.2657T>G
n.603T>G
c.422T>G
n.93T>G
c.7791T>G (p.Phe2597Leu)
c.7713T>G (p.Phe2571Leu)
c.4863T>G (p.Phe1621Leu)
c.7788T>G (p.Phe2596Leu)
c.7614T>G (p.Phe2538Leu)
c.5079T>G (p.Phe1693Leu)
c.4860T>G (p.Phe1620Leu)
2g.108768331G>ACA348080359RANBP2c.2603-3370G>A (n.2603-3370G>A)
c.2525-3370G>A (n.2525-3370G>A)
c.2658G>A
n.604G>A
c.423G>A
n.94G>A
c.7792G>A (p.Ala2598Thr)
c.7714G>A (p.Ala2572Thr)
c.4864G>A (p.Ala1622Thr)
c.7789G>A (p.Ala2597Thr)
c.7615G>A (p.Ala2539Thr)
c.5080G>A (p.Ala1694Thr)
c.4861G>A (p.Ala1621Thr)
2g.108768331G>CCA348080360RANBP2c.2603-3370G>C (n.2603-3370G>C)
c.2525-3370G>C (n.2525-3370G>C)
c.2658G>C
n.604G>C
c.423G>C
n.94G>C
c.7792G>C (p.Ala2598Pro)
c.7714G>C (p.Ala2572Pro)
c.4864G>C (p.Ala1622Pro)
c.7789G>C (p.Ala2597Pro)
c.7615G>C (p.Ala2539Pro)
c.5080G>C (p.Ala1694Pro)
c.4861G>C (p.Ala1621Pro)
2g.108768331G>TCA348080362RANBP2c.2603-3370G>T (n.2603-3370G>T)
c.2525-3370G>T (n.2525-3370G>T)
c.2658G>T
n.604G>T
c.423G>T
n.94G>T
c.7792G>T (p.Ala2598Ser)
c.7714G>T (p.Ala2572Ser)
c.4864G>T (p.Ala1622Ser)
c.7789G>T (p.Ala2597Ser)
c.7615G>T (p.Ala2539Ser)
c.5080G>T (p.Ala1694Ser)
c.4861G>T (p.Ala1621Ser)
2g.108768332C>ACA348080367RANBP2c.2603-3369C>A (n.2603-3369C>A)
c.2525-3369C>A (n.2525-3369C>A)
c.2659C>A
n.605C>A
c.424C>A
n.95C>A
c.7793C>A (p.Ala2598Asp)
c.7715C>A (p.Ala2572Asp)
c.4865C>A (p.Ala1622Asp)
c.7790C>A (p.Ala2597Asp)
c.7616C>A (p.Ala2539Asp)
c.5081C>A (p.Ala1694Asp)
c.4862C>A (p.Ala1621Asp)
2g.108768332C=CA1278292616RANBP2c.2603-3369C= (n.2603-3369C=)
c.2525-3369C= (n.2525-3369C=)
c.2659C=
n.605C=
c.424C=
n.95C=
c.7793C= (p.Ala2598=)
c.7715C= (p.Ala2572=)
c.4865C= (p.Ala1622=)
c.7790C= (p.Ala2597=)
c.7616C= (p.Ala2539=)
c.5081C= (p.Ala1694=)
c.4862C= (p.Ala1621=)
2g.108768332C>GCA348080369RANBP2c.2603-3369C>G (n.2603-3369C>G)
c.2525-3369C>G (n.2525-3369C>G)
c.2659C>G
n.605C>G
c.424C>G
n.95C>G
c.7793C>G (p.Ala2598Gly)
c.7715C>G (p.Ala2572Gly)
c.4865C>G (p.Ala1622Gly)
c.7790C>G (p.Ala2597Gly)
c.7616C>G (p.Ala2539Gly)
c.5081C>G (p.Ala1694Gly)
c.4862C>G (p.Ala1621Gly)
2g.108768332C>TCA348080371RANBP2c.2603-3369C>T (n.2603-3369C>T)
c.2525-3369C>T (n.2525-3369C>T)
c.2659C>T
n.605C>T
c.424C>T
n.95C>T
c.7793C>T (p.Ala2598Val)
c.7715C>T (p.Ala2572Val)
c.4865C>T (p.Ala1622Val)
c.7790C>T (p.Ala2597Val)
c.7616C>T (p.Ala2539Val)
c.5081C>T (p.Ala1694Val)
c.4862C>T (p.Ala1621Val)
 dbSNP gnomAD v2 gnomAD v4
2g.108768333T>ACA428204009RANBP2c.2603-3368T>A (n.2603-3368T>A)
c.2525-3368T>A (n.2525-3368T>A)
c.2660T>A
n.606T>A
c.425T>A
n.96T>A
c.7794T>A (p.Ala2598=)
c.7716T>A (p.Ala2572=)
c.4866T>A (p.Ala1622=)
c.7791T>A (p.Ala2597=)
c.7617T>A (p.Ala2539=)
c.5082T>A (p.Ala1694=)
c.4863T>A (p.Ala1621=)
2g.108768333T>CCA428204010RANBP2c.2603-3368T>C (n.2603-3368T>C)
c.2525-3368T>C (n.2525-3368T>C)
c.2660T>C
n.606T>C
c.425T>C
n.96T>C
c.7794T>C (p.Ala2598=)
c.7716T>C (p.Ala2572=)
c.4866T>C (p.Ala1622=)
c.7791T>C (p.Ala2597=)
c.7617T>C (p.Ala2539=)
c.5082T>C (p.Ala1694=)
c.4863T>C (p.Ala1621=)
2g.108768333T>GCA428204011RANBP2c.2603-3368T>G (n.2603-3368T>G)
c.2525-3368T>G (n.2525-3368T>G)
c.2660T>G
n.606T>G
c.425T>G
n.96T>G
c.7794T>G (p.Ala2598=)
c.7716T>G (p.Ala2572=)
c.4866T>G (p.Ala1622=)
c.7791T>G (p.Ala2597=)
c.7617T>G (p.Ala2539=)
c.5082T>G (p.Ala1694=)
c.4863T>G (p.Ala1621=)
2g.108768334T>ACA348080374RANBP2c.2603-3367T>A (n.2603-3367T>A)
c.2525-3367T>A (n.2525-3367T>A)
c.2661T>A
n.607T>A
c.426T>A
n.97T>A
c.7795T>A (p.Ser2599Thr)
c.7717T>A (p.Ser2573Thr)
c.4867T>A (p.Ser1623Thr)
c.7792T>A (p.Ser2598Thr)
c.7618T>A (p.Ser2540Thr)
c.5083T>A (p.Ser1695Thr)
c.4864T>A (p.Ser1622Thr)
2g.108768334T>CCA348080375RANBP2c.2603-3367T>C (n.2603-3367T>C)
c.2525-3367T>C (n.2525-3367T>C)
c.2661T>C
n.607T>C
c.426T>C
n.97T>C
c.7795T>C (p.Ser2599Pro)
c.7717T>C (p.Ser2573Pro)
c.4867T>C (p.Ser1623Pro)
c.7792T>C (p.Ser2598Pro)
c.7618T>C (p.Ser2540Pro)
c.5083T>C (p.Ser1695Pro)
c.4864T>C (p.Ser1622Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.108768334T>GCA348080377RANBP2c.2603-3367T>G (n.2603-3367T>G)
c.2525-3367T>G (n.2525-3367T>G)
c.2661T>G
n.607T>G
c.426T>G
n.97T>G
c.7795T>G (p.Ser2599Ala)
c.7717T>G (p.Ser2573Ala)
c.4867T>G (p.Ser1623Ala)
c.7792T>G (p.Ser2598Ala)
c.7618T>G (p.Ser2540Ala)
c.5083T>G (p.Ser1695Ala)
c.4864T>G (p.Ser1622Ala)
2g.108768334T=CA1278292618RANBP2c.2603-3367T= (n.2603-3367T=)
c.2525-3367T= (n.2525-3367T=)
c.2661T=
n.607T=
c.426T=
n.97T=
c.7795T= (p.Ser2599=)
c.7717T= (p.Ser2573=)
c.4867T= (p.Ser1623=)
c.7792T= (p.Ser2598=)
c.7618T= (p.Ser2540=)
c.5083T= (p.Ser1695=)
c.4864T= (p.Ser1622=)
2g.108768335C>ACA348080382RANBP2c.2603-3366C>A (n.2603-3366C>A)
c.2525-3366C>A (n.2525-3366C>A)
c.2662C>A
n.608C>A
c.427C>A
n.98C>A
c.7796C>A (p.Ser2599Tyr)
c.7718C>A (p.Ser2573Tyr)
c.4868C>A (p.Ser1623Tyr)
c.7793C>A (p.Ser2598Tyr)
c.7619C>A (p.Ser2540Tyr)
c.5084C>A (p.Ser1695Tyr)
c.4865C>A (p.Ser1622Tyr)
2g.108768335C>GCA348080384RANBP2c.2603-3366C>G (n.2603-3366C>G)
c.2525-3366C>G (n.2525-3366C>G)
c.2662C>G
n.608C>G
c.427C>G
n.98C>G
c.7796C>G (p.Ser2599Cys)
c.7718C>G (p.Ser2573Cys)
c.4868C>G (p.Ser1623Cys)
c.7793C>G (p.Ser2598Cys)
c.7619C>G (p.Ser2540Cys)
c.5084C>G (p.Ser1695Cys)
c.4865C>G (p.Ser1622Cys)
 gnomAD v4
2g.108768335C>TCA348080380RANBP2c.2603-3366C>T (n.2603-3366C>T)
c.2525-3366C>T (n.2525-3366C>T)
c.2662C>T
n.608C>T
c.427C>T
n.98C>T
c.7796C>T (p.Ser2599Phe)
c.7718C>T (p.Ser2573Phe)
c.4868C>T (p.Ser1623Phe)
c.7793C>T (p.Ser2598Phe)
c.7619C>T (p.Ser2540Phe)
c.5084C>T (p.Ser1695Phe)
c.4865C>T (p.Ser1622Phe)
 gnomAD v4 COSMIC
2g.108768336C>ACA428204014RANBP2c.2603-3365C>A (n.2603-3365C>A)
c.2525-3365C>A (n.2525-3365C>A)
c.2663C>A
n.609C>A
c.428C>A
n.99C>A
c.7797C>A (p.Ser2599=)
c.7719C>A (p.Ser2573=)
c.4869C>A (p.Ser1623=)
c.7794C>A (p.Ser2598=)
c.7620C>A (p.Ser2540=)
c.5085C>A (p.Ser1695=)
c.4866C>A (p.Ser1622=)
2g.108768336C=CA1278292620RANBP2c.2603-3365C= (n.2603-3365C=)
c.2525-3365C= (n.2525-3365C=)
c.2663C=
n.609C=
c.428C=
n.99C=
c.7797C= (p.Ser2599=)
c.7719C= (p.Ser2573=)
c.4869C= (p.Ser1623=)
c.7794C= (p.Ser2598=)
c.7620C= (p.Ser2540=)
c.5085C= (p.Ser1695=)
c.4866C= (p.Ser1622=)
2g.108768336C>GCA428204016RANBP2c.2603-3365C>G (n.2603-3365C>G)
c.2525-3365C>G (n.2525-3365C>G)
c.2663C>G
n.609C>G
c.428C>G
n.99C>G
c.7797C>G (p.Ser2599=)
c.7719C>G (p.Ser2573=)
c.4869C>G (p.Ser1623=)
c.7794C>G (p.Ser2598=)
c.7620C>G (p.Ser2540=)
c.5085C>G (p.Ser1695=)
c.4866C>G (p.Ser1622=)
2g.108768336C>TCA428204015RANBP2c.2603-3365C>T (n.2603-3365C>T)
c.2525-3365C>T (n.2525-3365C>T)
c.2663C>T
n.609C>T
c.428C>T
n.99C>T
c.7797C>T (p.Ser2599=)
c.7719C>T (p.Ser2573=)
c.4869C>T (p.Ser1623=)
c.7794C>T (p.Ser2598=)
c.7620C>T (p.Ser2540=)
c.5085C>T (p.Ser1695=)
c.4866C>T (p.Ser1622=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108768337T>ACA348080390RANBP2c.2603-3364T>A (n.2603-3364T>A)
c.2525-3364T>A (n.2525-3364T>A)
c.2664T>A
n.610T>A
c.429T>A
n.100T>A
c.7798T>A (p.Phe2600Ile)
c.7720T>A (p.Phe2574Ile)
c.4870T>A (p.Phe1624Ile)
c.7795T>A (p.Phe2599Ile)
c.7621T>A (p.Phe2541Ile)
c.5086T>A (p.Phe1696Ile)
c.4867T>A (p.Phe1623Ile)
2g.108768337T>CCA348080388RANBP2c.2603-3364T>C (n.2603-3364T>C)
c.2525-3364T>C (n.2525-3364T>C)
c.2664T>C
n.610T>C
c.429T>C
n.100T>C
c.7798T>C (p.Phe2600Leu)
c.7720T>C (p.Phe2574Leu)
c.4870T>C (p.Phe1624Leu)
c.7795T>C (p.Phe2599Leu)
c.7621T>C (p.Phe2541Leu)
c.5086T>C (p.Phe1696Leu)
c.4867T>C (p.Phe1623Leu)
2g.108768337T>GCA348080392RANBP2c.2603-3364T>G (n.2603-3364T>G)
c.2525-3364T>G (n.2525-3364T>G)
c.2664T>G
n.610T>G
c.429T>G
n.100T>G
c.7798T>G (p.Phe2600Val)
c.7720T>G (p.Phe2574Val)
c.4870T>G (p.Phe1624Val)
c.7795T>G (p.Phe2599Val)
c.7621T>G (p.Phe2541Val)
c.5086T>G (p.Phe1696Val)
c.4867T>G (p.Phe1623Val)
2g.108768338T>ACA348080396RANBP2c.2603-3363T>A (n.2603-3363T>A)
c.2525-3363T>A (n.2525-3363T>A)
c.2665T>A
n.611T>A
c.430T>A
n.101T>A
c.7799T>A (p.Phe2600Tyr)
c.7721T>A (p.Phe2574Tyr)
c.4871T>A (p.Phe1624Tyr)
c.7796T>A (p.Phe2599Tyr)
c.7622T>A (p.Phe2541Tyr)
c.5087T>A (p.Phe1696Tyr)
c.4868T>A (p.Phe1623Tyr)
2g.108768338T>CCA348080400RANBP2c.2603-3363T>C (n.2603-3363T>C)
c.2525-3363T>C (n.2525-3363T>C)
c.2665T>C
n.611T>C
c.430T>C
n.101T>C
c.7799T>C (p.Phe2600Ser)
c.7721T>C (p.Phe2574Ser)
c.4871T>C (p.Phe1624Ser)
c.7796T>C (p.Phe2599Ser)
c.7622T>C (p.Phe2541Ser)
c.5087T>C (p.Phe1696Ser)
c.4868T>C (p.Phe1623Ser)
2g.108768338T>GCA348080398RANBP2c.2603-3363T>G (n.2603-3363T>G)
c.2525-3363T>G (n.2525-3363T>G)
c.2665T>G
n.611T>G
c.430T>G
n.101T>G
c.7799T>G (p.Phe2600Cys)
c.7721T>G (p.Phe2574Cys)
c.4871T>G (p.Phe1624Cys)
c.7796T>G (p.Phe2599Cys)
c.7622T>G (p.Phe2541Cys)
c.5087T>G (p.Phe1696Cys)
c.4868T>G (p.Phe1623Cys)
2g.108768339T>ACA348080403RANBP2c.2603-3362T>A (n.2603-3362T>A)
c.2525-3362T>A (n.2525-3362T>A)
c.2666T>A
n.612T>A
c.431T>A
n.102T>A
c.7800T>A (p.Phe2600Leu)
c.7722T>A (p.Phe2574Leu)
c.4872T>A (p.Phe1624Leu)
c.7797T>A (p.Phe2599Leu)
c.7623T>A (p.Phe2541Leu)
c.5088T>A (p.Phe1696Leu)
c.4869T>A (p.Phe1623Leu)
2g.108768339T>CCA428204022RANBP2c.2603-3362T>C (n.2603-3362T>C)
c.2525-3362T>C (n.2525-3362T>C)
c.2666T>C
n.612T>C
c.431T>C
n.102T>C
c.7800T>C (p.Phe2600=)
c.7722T>C (p.Phe2574=)
c.4872T>C (p.Phe1624=)
c.7797T>C (p.Phe2599=)
c.7623T>C (p.Phe2541=)
c.5088T>C (p.Phe1696=)
c.4869T>C (p.Phe1623=)
2g.108768339T>GCA348080405RANBP2c.2603-3362T>G (n.2603-3362T>G)
c.2525-3362T>G (n.2525-3362T>G)
c.2666T>G
n.612T>G
c.431T>G
n.102T>G
c.7800T>G (p.Phe2600Leu)
c.7722T>G (p.Phe2574Leu)
c.4872T>G (p.Phe1624Leu)
c.7797T>G (p.Phe2599Leu)
c.7623T>G (p.Phe2541Leu)
c.5088T>G (p.Phe1696Leu)
c.4869T>G (p.Phe1623Leu)
2g.108768340C>ACA53457834RANBP2c.2603-3361C>A (n.2603-3361C>A)
c.2525-3361C>A (n.2525-3361C>A)
c.2667C>A
n.613C>A
c.432C>A
n.103C>A
c.7801C>A (p.Pro2601Thr)
c.7723C>A (p.Pro2575Thr)
c.4873C>A (p.Pro1625Thr)
c.7798C>A (p.Pro2600Thr)
c.7624C>A (p.Pro2542Thr)
c.5089C>A (p.Pro1697Thr)
c.4870C>A (p.Pro1624Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.108768340C=CA1278292622RANBP2c.2603-3361C= (n.2603-3361C=)
c.2525-3361C= (n.2525-3361C=)
c.2667C=
n.613C=
c.432C=
n.103C=
c.7801C= (p.Pro2601=)
c.7723C= (p.Pro2575=)
c.4873C= (p.Pro1625=)
c.7798C= (p.Pro2600=)
c.7624C= (p.Pro2542=)
c.5089C= (p.Pro1697=)
c.4870C= (p.Pro1624=)
2g.108768340C>GCA53457837RANBP2c.2603-3361C>G (n.2603-3361C>G)
c.2525-3361C>G (n.2525-3361C>G)
c.2667C>G
n.613C>G
c.432C>G
n.103C>G
c.7801C>G (p.Pro2601Ala)
c.7723C>G (p.Pro2575Ala)
c.4873C>G (p.Pro1625Ala)
c.7798C>G (p.Pro2600Ala)
c.7624C>G (p.Pro2542Ala)
c.5089C>G (p.Pro1697Ala)
c.4870C>G (p.Pro1624Ala)
 dbSNP gnomAD v4
2g.108768340C>TCA348080411RANBP2c.2603-3361C>T (n.2603-3361C>T)
c.2525-3361C>T (n.2525-3361C>T)
c.2667C>T
n.613C>T
c.432C>T
n.103C>T
c.7801C>T (p.Pro2601Ser)
c.7723C>T (p.Pro2575Ser)
c.4873C>T (p.Pro1625Ser)
c.7798C>T (p.Pro2600Ser)
c.7624C>T (p.Pro2542Ser)
c.5089C>T (p.Pro1697Ser)
c.4870C>T (p.Pro1624Ser)
 gnomAD v4
2g.108768341C>ACA1823659RANBP2c.2603-3360C>A (n.2603-3360C>A)
c.2525-3360C>A (n.2525-3360C>A)
c.2668C>A
n.614C>A
c.433C>A
n.104C>A
c.7802C>A (p.Pro2601Gln)
c.7724C>A (p.Pro2575Gln)
c.4874C>A (p.Pro1625Gln)
c.7799C>A (p.Pro2600Gln)
c.7625C>A (p.Pro2542Gln)
c.5090C>A (p.Pro1697Gln)
c.4871C>A (p.Pro1624Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768341C=CA1278292624RANBP2c.2603-3360C= (n.2603-3360C=)
c.2525-3360C= (n.2525-3360C=)
c.2668C=
n.614C=
c.433C=
n.104C=
c.7802C= (p.Pro2601=)
c.7724C= (p.Pro2575=)
c.4874C= (p.Pro1625=)
c.7799C= (p.Pro2600=)
c.7625C= (p.Pro2542=)
c.5090C= (p.Pro1697=)
c.4871C= (p.Pro1624=)
2g.108768341C>GCA348080419RANBP2c.2603-3360C>G (n.2603-3360C>G)
c.2525-3360C>G (n.2525-3360C>G)
c.2668C>G
n.614C>G
c.433C>G
n.104C>G
c.7802C>G (p.Pro2601Arg)
c.7724C>G (p.Pro2575Arg)
c.4874C>G (p.Pro1625Arg)
c.7799C>G (p.Pro2600Arg)
c.7625C>G (p.Pro2542Arg)
c.5090C>G (p.Pro1697Arg)
c.4871C>G (p.Pro1624Arg)
2g.108768341C>TCA348080421RANBP2c.2603-3360C>T (n.2603-3360C>T)
c.2525-3360C>T (n.2525-3360C>T)
c.2668C>T
n.614C>T
c.433C>T
n.104C>T
c.7802C>T (p.Pro2601Leu)
c.7724C>T (p.Pro2575Leu)
c.4874C>T (p.Pro1625Leu)
c.7799C>T (p.Pro2600Leu)
c.7625C>T (p.Pro2542Leu)
c.5090C>T (p.Pro1697Leu)
c.4871C>T (p.Pro1624Leu)
2g.108768342A>CCA428204029RANBP2c.2603-3359A>C (n.2603-3359A>C)
c.2525-3359A>C (n.2525-3359A>C)
c.2669A>C
n.615A>C
c.434A>C
n.105A>C
c.7803A>C (p.Pro2601=)
c.7725A>C (p.Pro2575=)
c.4875A>C (p.Pro1625=)
c.7800A>C (p.Pro2600=)
c.7626A>C (p.Pro2542=)
c.5091A>C (p.Pro1697=)
c.4872A>C (p.Pro1624=)
2g.108768342A>GCA428204031RANBP2c.2603-3359A>G (n.2603-3359A>G)
c.2525-3359A>G (n.2525-3359A>G)
c.2669A>G
n.615A>G
c.434A>G
n.105A>G
c.7803A>G (p.Pro2601=)
c.7725A>G (p.Pro2575=)
c.4875A>G (p.Pro1625=)
c.7800A>G (p.Pro2600=)
c.7626A>G (p.Pro2542=)
c.5091A>G (p.Pro1697=)
c.4872A>G (p.Pro1624=)
 gnomAD v4
2g.108768342A>TCA428204032RANBP2c.2603-3359A>T (n.2603-3359A>T)
c.2525-3359A>T (n.2525-3359A>T)
c.2669A>T
n.615A>T
c.434A>T
n.105A>T
c.7803A>T (p.Pro2601=)
c.7725A>T (p.Pro2575=)
c.4875A>T (p.Pro1625=)
c.7800A>T (p.Pro2600=)
c.7626A>T (p.Pro2542=)
c.5091A>T (p.Pro1697=)
c.4872A>T (p.Pro1624=)
2g.108768343A>CCA348080424RANBP2c.2603-3358A>C (n.2603-3358A>C)
c.2525-3358A>C (n.2525-3358A>C)
c.2670A>C
n.616A>C
c.435A>C
n.106A>C
c.7804A>C (p.Thr2602Pro)
c.7726A>C (p.Thr2576Pro)
c.4876A>C (p.Thr1626Pro)
c.7801A>C (p.Thr2601Pro)
c.7627A>C (p.Thr2543Pro)
c.5092A>C (p.Thr1698Pro)
c.4873A>C (p.Thr1625Pro)
2g.108768343A>GCA348080427RANBP2c.2603-3358A>G (n.2603-3358A>G)
c.2525-3358A>G (n.2525-3358A>G)
c.2670A>G
n.616A>G
c.435A>G
n.106A>G
c.7804A>G (p.Thr2602Ala)
c.7726A>G (p.Thr2576Ala)
c.4876A>G (p.Thr1626Ala)
c.7801A>G (p.Thr2601Ala)
c.7627A>G (p.Thr2543Ala)
c.5092A>G (p.Thr1698Ala)
c.4873A>G (p.Thr1625Ala)
2g.108768343A>TCA348080429RANBP2c.2603-3358A>T (n.2603-3358A>T)
c.2525-3358A>T (n.2525-3358A>T)
c.2670A>T
n.616A>T
c.435A>T
n.106A>T
c.7804A>T (p.Thr2602Ser)
c.7726A>T (p.Thr2576Ser)
c.4876A>T (p.Thr1626Ser)
c.7801A>T (p.Thr2601Ser)
c.7627A>T (p.Thr2543Ser)
c.5092A>T (p.Thr1698Ser)
c.4873A>T (p.Thr1625Ser)
2g.108768344C>ACA348080434RANBP2c.2603-3357C>A (n.2603-3357C>A)
c.2525-3357C>A (n.2525-3357C>A)
c.2671C>A
n.617C>A
c.436C>A
n.107C>A
c.7805C>A (p.Thr2602Lys)
c.7727C>A (p.Thr2576Lys)
c.4877C>A (p.Thr1626Lys)
c.7802C>A (p.Thr2601Lys)
c.7628C>A (p.Thr2543Lys)
c.5093C>A (p.Thr1698Lys)
c.4874C>A (p.Thr1625Lys)
2g.108768344C=CA1278292626RANBP2c.2603-3357C= (n.2603-3357C=)
c.2525-3357C= (n.2525-3357C=)
c.2671C=
n.617C=
c.436C=
n.107C=
c.7805C= (p.Thr2602=)
c.7727C= (p.Thr2576=)
c.4877C= (p.Thr1626=)
c.7802C= (p.Thr2601=)
c.7628C= (p.Thr2543=)
c.5093C= (p.Thr1698=)
c.4874C= (p.Thr1625=)
2g.108768344C>GCA348080436RANBP2c.2603-3357C>G (n.2603-3357C>G)
c.2525-3357C>G (n.2525-3357C>G)
c.2671C>G
n.617C>G
c.436C>G
n.107C>G
c.7805C>G (p.Thr2602Arg)
c.7727C>G (p.Thr2576Arg)
c.4877C>G (p.Thr1626Arg)
c.7802C>G (p.Thr2601Arg)
c.7628C>G (p.Thr2543Arg)
c.5093C>G (p.Thr1698Arg)
c.4874C>G (p.Thr1625Arg)
2g.108768344C>TCA1823660RANBP2c.2603-3357C>T (n.2603-3357C>T)
c.2525-3357C>T (n.2525-3357C>T)
c.2671C>T
n.617C>T
c.436C>T
n.107C>T
c.7805C>T (p.Thr2602Met)
c.7727C>T (p.Thr2576Met)
c.4877C>T (p.Thr1626Met)
c.7802C>T (p.Thr2601Met)
c.7628C>T (p.Thr2543Met)
c.5093C>T (p.Thr1698Met)
c.4874C>T (p.Thr1625Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768345G>ACA428204035RANBP2c.2603-3356G>A (n.2603-3356G>A)
c.2525-3356G>A (n.2525-3356G>A)
c.2672G>A
n.618G>A
c.437G>A
n.108G>A
c.7806G>A (p.Thr2602=)
c.7728G>A (p.Thr2576=)
c.4878G>A (p.Thr1626=)
c.7803G>A (p.Thr2601=)
c.7629G>A (p.Thr2543=)
c.5094G>A (p.Thr1698=)
c.4875G>A (p.Thr1625=)
2g.108768345G>CCA428204036RANBP2c.2603-3356G>C (n.2603-3356G>C)
c.2525-3356G>C (n.2525-3356G>C)
c.2672G>C
n.618G>C
c.437G>C
n.108G>C
c.7806G>C (p.Thr2602=)
c.7728G>C (p.Thr2576=)
c.4878G>C (p.Thr1626=)
c.7803G>C (p.Thr2601=)
c.7629G>C (p.Thr2543=)
c.5094G>C (p.Thr1698=)
c.4875G>C (p.Thr1625=)
 gnomAD v4
2g.108768345G>TCA428204040RANBP2c.2603-3356G>T (n.2603-3356G>T)
c.2525-3356G>T (n.2525-3356G>T)
c.2672G>T
n.618G>T
c.437G>T
n.108G>T
c.7806G>T (p.Thr2602=)
c.7728G>T (p.Thr2576=)
c.4878G>T (p.Thr1626=)
c.7803G>T (p.Thr2601=)
c.7629G>T (p.Thr2543=)
c.5094G>T (p.Thr1698=)
c.4875G>T (p.Thr1625=)
2g.108768346G>ACA348080449RANBP2c.2603-3355G>A (n.2603-3355G>A)
c.2525-3355G>A (n.2525-3355G>A)
c.2673G>A
n.619G>A
c.438G>A
n.109G>A
c.7807G>A (p.Glu2603Lys)
c.7729G>A (p.Glu2577Lys)
c.4879G>A (p.Glu1627Lys)
c.7804G>A (p.Glu2602Lys)
c.7630G>A (p.Glu2544Lys)
c.5095G>A (p.Glu1699Lys)
c.4876G>A (p.Glu1626Lys)
2g.108768346G>CCA348080444RANBP2c.2603-3355G>C (n.2603-3355G>C)
c.2525-3355G>C (n.2525-3355G>C)
c.2673G>C
n.619G>C
c.438G>C
n.109G>C
c.7807G>C (p.Glu2603Gln)
c.7729G>C (p.Glu2577Gln)
c.4879G>C (p.Glu1627Gln)
c.7804G>C (p.Glu2602Gln)
c.7630G>C (p.Glu2544Gln)
c.5095G>C (p.Glu1699Gln)
c.4876G>C (p.Glu1626Gln)
2g.108768346G>TCA348080446RANBP2c.2603-3355G>T (n.2603-3355G>T)
c.2525-3355G>T (n.2525-3355G>T)
c.2673G>T
n.619G>T
c.438G>T
n.109G>T
c.7807G>T (p.Glu2603Ter)
c.7729G>T (p.Glu2577Ter)
c.4879G>T (p.Glu1627Ter)
c.7804G>T (p.Glu2602Ter)
c.7630G>T (p.Glu2544Ter)
c.5095G>T (p.Glu1699Ter)
c.4876G>T (p.Glu1626Ter)
2g.108768347A=CA1278292628RANBP2c.2603-3354A= (n.2603-3354A=)
c.2525-3354A= (n.2525-3354A=)
c.2674A=
n.620A=
c.439A=
n.110A=
c.7808A= (p.Glu2603=)
c.7730A= (p.Glu2577=)
c.4880A= (p.Glu1627=)
c.7805A= (p.Glu2602=)
c.7631A= (p.Glu2544=)
c.5096A= (p.Glu1699=)
c.4877A= (p.Glu1626=)
2g.108768347A>CCA348080451RANBP2c.2603-3354A>C (n.2603-3354A>C)
c.2525-3354A>C (n.2525-3354A>C)
c.2674A>C
n.620A>C
c.439A>C
n.110A>C
c.7808A>C (p.Glu2603Ala)
c.7730A>C (p.Glu2577Ala)
c.4880A>C (p.Glu1627Ala)
c.7805A>C (p.Glu2602Ala)
c.7631A>C (p.Glu2544Ala)
c.5096A>C (p.Glu1699Ala)
c.4877A>C (p.Glu1626Ala)
2g.108768347A>GCA1823661RANBP2c.2603-3354A>G (n.2603-3354A>G)
c.2525-3354A>G (n.2525-3354A>G)
c.2674A>G
n.620A>G
c.439A>G
n.110A>G
c.7808A>G (p.Glu2603Gly)
c.7730A>G (p.Glu2577Gly)
c.4880A>G (p.Glu1627Gly)
c.7805A>G (p.Glu2602Gly)
c.7631A>G (p.Glu2544Gly)
c.5096A>G (p.Glu1699Gly)
c.4877A>G (p.Glu1626Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768347A>TCA348080455RANBP2c.2603-3354A>T (n.2603-3354A>T)
c.2525-3354A>T (n.2525-3354A>T)
c.2674A>T
n.620A>T
c.439A>T
n.110A>T
c.7808A>T (p.Glu2603Val)
c.7730A>T (p.Glu2577Val)
c.4880A>T (p.Glu1627Val)
c.7805A>T (p.Glu2602Val)
c.7631A>T (p.Glu2544Val)
c.5096A>T (p.Glu1699Val)
c.4877A>T (p.Glu1626Val)
2g.108768348A>CCA348080458RANBP2c.2603-3353A>C (n.2603-3353A>C)
c.2525-3353A>C (n.2525-3353A>C)
c.2675A>C
n.621A>C
c.440A>C
n.111A>C
c.7809A>C (p.Glu2603Asp)
c.7731A>C (p.Glu2577Asp)
c.4881A>C (p.Glu1627Asp)
c.7806A>C (p.Glu2602Asp)
c.7632A>C (p.Glu2544Asp)
c.5097A>C (p.Glu1699Asp)
c.4878A>C (p.Glu1626Asp)
2g.108768348A>GCA428204044RANBP2c.2603-3353A>G (n.2603-3353A>G)
c.2525-3353A>G (n.2525-3353A>G)
c.2675A>G
n.621A>G
c.440A>G
n.111A>G
c.7809A>G (p.Glu2603=)
c.7731A>G (p.Glu2577=)
c.4881A>G (p.Glu1627=)
c.7806A>G (p.Glu2602=)
c.7632A>G (p.Glu2544=)
c.5097A>G (p.Glu1699=)
c.4878A>G (p.Glu1626=)
2g.108768348A>TCA348080460RANBP2c.2603-3353A>T (n.2603-3353A>T)
c.2525-3353A>T (n.2525-3353A>T)
c.2675A>T
n.621A>T
c.440A>T
n.111A>T
c.7809A>T (p.Glu2603Asp)
c.7731A>T (p.Glu2577Asp)
c.4881A>T (p.Glu1627Asp)
c.7806A>T (p.Glu2602Asp)
c.7632A>T (p.Glu2544Asp)
c.5097A>T (p.Glu1699Asp)
c.4878A>T (p.Glu1626Asp)
2g.108768349G>ACA348080462RANBP2c.2603-3352G>A (n.2603-3352G>A)
c.2525-3352G>A (n.2525-3352G>A)
c.2676G>A
n.622G>A
c.441G>A
n.112G>A
c.7810G>A (p.Glu2604Lys)
c.7732G>A (p.Glu2578Lys)
c.4882G>A (p.Glu1628Lys)
c.7807G>A (p.Glu2603Lys)
c.7633G>A (p.Glu2545Lys)
c.5098G>A (p.Glu1700Lys)
c.4879G>A (p.Glu1627Lys)
 dbSNP
2g.108768349G>CCA348080464RANBP2c.2603-3352G>C (n.2603-3352G>C)
c.2525-3352G>C (n.2525-3352G>C)
c.2676G>C
n.622G>C
c.441G>C
n.112G>C
c.7810G>C (p.Glu2604Gln)
c.7732G>C (p.Glu2578Gln)
c.4882G>C (p.Glu1628Gln)
c.7807G>C (p.Glu2603Gln)
c.7633G>C (p.Glu2545Gln)
c.5098G>C (p.Glu1700Gln)
c.4879G>C (p.Glu1627Gln)
2g.108768349G=CA1278292630RANBP2c.2603-3352G= (n.2603-3352G=)
c.2525-3352G= (n.2525-3352G=)
c.2676G=
n.622G=
c.441G=
n.112G=
c.7810G= (p.Glu2604=)
c.7732G= (p.Glu2578=)
c.4882G= (p.Glu1628=)
c.7807G= (p.Glu2603=)
c.7633G= (p.Glu2545=)
c.5098G= (p.Glu1700=)
c.4879G= (p.Glu1627=)
2g.108768349G>TCA348080466RANBP2c.2603-3352G>T (n.2603-3352G>T)
c.2525-3352G>T (n.2525-3352G>T)
c.2676G>T
n.622G>T
c.441G>T
n.112G>T
c.7810G>T (p.Glu2604Ter)
c.7732G>T (p.Glu2578Ter)
c.4882G>T (p.Glu1628Ter)
c.7807G>T (p.Glu2603Ter)
c.7633G>T (p.Glu2545Ter)
c.5098G>T (p.Glu1700Ter)
c.4879G>T (p.Glu1627Ter)
2g.108768350A>CCA348080469RANBP2c.2603-3351A>C (n.2603-3351A>C)
c.2525-3351A>C (n.2525-3351A>C)
c.2677A>C
n.623A>C
c.442A>C
n.113A>C
c.7811A>C (p.Glu2604Ala)
c.7733A>C (p.Glu2578Ala)
c.4883A>C (p.Glu1628Ala)
c.7808A>C (p.Glu2603Ala)
c.7634A>C (p.Glu2545Ala)
c.5099A>C (p.Glu1700Ala)
c.4880A>C (p.Glu1627Ala)
2g.108768350A>GCA348080471RANBP2c.2603-3351A>G (n.2603-3351A>G)
c.2525-3351A>G (n.2525-3351A>G)
c.2677A>G
n.623A>G
c.442A>G
n.113A>G
c.7811A>G (p.Glu2604Gly)
c.7733A>G (p.Glu2578Gly)
c.4883A>G (p.Glu1628Gly)
c.7808A>G (p.Glu2603Gly)
c.7634A>G (p.Glu2545Gly)
c.5099A>G (p.Glu1700Gly)
c.4880A>G (p.Glu1627Gly)
 gnomAD v4
2g.108768350A>TCA348080473RANBP2c.2603-3351A>T (n.2603-3351A>T)
c.2525-3351A>T (n.2525-3351A>T)
c.2677A>T
n.623A>T
c.442A>T
n.113A>T
c.7811A>T (p.Glu2604Val)
c.7733A>T (p.Glu2578Val)
c.4883A>T (p.Glu1628Val)
c.7808A>T (p.Glu2603Val)
c.7634A>T (p.Glu2545Val)
c.5099A>T (p.Glu1700Val)
c.4880A>T (p.Glu1627Val)
2g.108768351A=CA1278292632RANBP2c.2603-3350A= (n.2603-3350A=)
c.2525-3350A= (n.2525-3350A=)
c.2678A=
n.624A=
c.443A=
n.114A=
c.7812A= (p.Glu2604=)
c.7734A= (p.Glu2578=)
c.4884A= (p.Glu1628=)
c.7809A= (p.Glu2603=)
c.7635A= (p.Glu2545=)
c.5100A= (p.Glu1700=)
c.4881A= (p.Glu1627=)
2g.108768351A>CCA348080477RANBP2c.2603-3350A>C (n.2603-3350A>C)
c.2525-3350A>C (n.2525-3350A>C)
c.2678A>C
n.624A>C
c.443A>C
n.114A>C
c.7812A>C (p.Glu2604Asp)
c.7734A>C (p.Glu2578Asp)
c.4884A>C (p.Glu1628Asp)
c.7809A>C (p.Glu2603Asp)
c.7635A>C (p.Glu2545Asp)
c.5100A>C (p.Glu1700Asp)
c.4881A>C (p.Glu1627Asp)
2g.108768351A>GCA428204052RANBP2c.2603-3350A>G (n.2603-3350A>G)
c.2525-3350A>G (n.2525-3350A>G)
c.2678A>G
n.624A>G
c.443A>G
n.114A>G
c.7812A>G (p.Glu2604=)
c.7734A>G (p.Glu2578=)
c.4884A>G (p.Glu1628=)
c.7809A>G (p.Glu2603=)
c.7635A>G (p.Glu2545=)
c.5100A>G (p.Glu1700=)
c.4881A>G (p.Glu1627=)
 dbSNP gnomAD v4
2g.108768351A>TCA348080476RANBP2c.2603-3350A>T (n.2603-3350A>T)
c.2525-3350A>T (n.2525-3350A>T)
c.2678A>T
n.624A>T
c.443A>T
n.114A>T
c.7812A>T (p.Glu2604Asp)
c.7734A>T (p.Glu2578Asp)
c.4884A>T (p.Glu1628Asp)
c.7809A>T (p.Glu2603Asp)
c.7635A>T (p.Glu2545Asp)
c.5100A>T (p.Glu1700Asp)
c.4881A>T (p.Glu1627Asp)
2g.108768352T>ACA348080480RANBP2c.2603-3349T>A (n.2603-3349T>A)
c.2525-3349T>A (n.2525-3349T>A)
c.2679T>A
n.625T>A
c.444T>A
n.115T>A
c.7813T>A (p.Ser2605Thr)
c.7735T>A (p.Ser2579Thr)
c.4885T>A (p.Ser1629Thr)
c.7810T>A (p.Ser2604Thr)
c.7636T>A (p.Ser2546Thr)
c.5101T>A (p.Ser1701Thr)
c.4882T>A (p.Ser1628Thr)
 gnomAD v4
2g.108768352T>CCA348080482RANBP2c.2603-3349T>C (n.2603-3349T>C)
c.2525-3349T>C (n.2525-3349T>C)
c.2679T>C
n.625T>C
c.444T>C
n.115T>C
c.7813T>C (p.Ser2605Pro)
c.7735T>C (p.Ser2579Pro)
c.4885T>C (p.Ser1629Pro)
c.7810T>C (p.Ser2604Pro)
c.7636T>C (p.Ser2546Pro)
c.5101T>C (p.Ser1701Pro)
c.4882T>C (p.Ser1628Pro)
2g.108768352T>GCA348080484RANBP2c.2603-3349T>G (n.2603-3349T>G)
c.2525-3349T>G (n.2525-3349T>G)
c.2679T>G
n.625T>G
c.444T>G
n.115T>G
c.7813T>G (p.Ser2605Ala)
c.7735T>G (p.Ser2579Ala)
c.4885T>G (p.Ser1629Ala)
c.7810T>G (p.Ser2604Ala)
c.7636T>G (p.Ser2546Ala)
c.5101T>G (p.Ser1701Ala)
c.4882T>G (p.Ser1628Ala)
2g.108768353C>ACA348080488RANBP2c.2603-3348C>A (n.2603-3348C>A)
c.2525-3348C>A (n.2525-3348C>A)
c.2680C>A
n.626C>A
c.445C>A
n.116C>A
c.7814C>A (p.Ser2605Tyr)
c.7736C>A (p.Ser2579Tyr)
c.4886C>A (p.Ser1629Tyr)
c.7811C>A (p.Ser2604Tyr)
c.7637C>A (p.Ser2546Tyr)
c.5102C>A (p.Ser1701Tyr)
c.4883C>A (p.Ser1628Tyr)
2g.108768353C>GCA348080490RANBP2c.2603-3348C>G (n.2603-3348C>G)
c.2525-3348C>G (n.2525-3348C>G)
c.2680C>G
n.626C>G
c.445C>G
n.116C>G
c.7814C>G (p.Ser2605Cys)
c.7736C>G (p.Ser2579Cys)
c.4886C>G (p.Ser1629Cys)
c.7811C>G (p.Ser2604Cys)
c.7637C>G (p.Ser2546Cys)
c.5102C>G (p.Ser1701Cys)
c.4883C>G (p.Ser1628Cys)
2g.108768353C>TCA348080491RANBP2c.2603-3348C>T (n.2603-3348C>T)
c.2525-3348C>T (n.2525-3348C>T)
c.2680C>T
n.626C>T
c.445C>T
n.116C>T
c.7814C>T (p.Ser2605Phe)
c.7736C>T (p.Ser2579Phe)
c.4886C>T (p.Ser1629Phe)
c.7811C>T (p.Ser2604Phe)
c.7637C>T (p.Ser2546Phe)
c.5102C>T (p.Ser1701Phe)
c.4883C>T (p.Ser1628Phe)
 gnomAD v4
2g.108768354T>ACA428204056RANBP2c.2603-3347T>A (n.2603-3347T>A)
c.2525-3347T>A (n.2525-3347T>A)
c.2681T>A
n.627T>A
c.446T>A
n.117T>A
c.7815T>A (p.Ser2605=)
c.7737T>A (p.Ser2579=)
c.4887T>A (p.Ser1629=)
c.7812T>A (p.Ser2604=)
c.7638T>A (p.Ser2546=)
c.5103T>A (p.Ser1701=)
c.4884T>A (p.Ser1628=)
2g.108768354T>CCA428204057RANBP2c.2603-3347T>C (n.2603-3347T>C)
c.2525-3347T>C (n.2525-3347T>C)
c.2681T>C
n.627T>C
c.446T>C
n.117T>C
c.7815T>C (p.Ser2605=)
c.7737T>C (p.Ser2579=)
c.4887T>C (p.Ser1629=)
c.7812T>C (p.Ser2604=)
c.7638T>C (p.Ser2546=)
c.5103T>C (p.Ser1701=)
c.4884T>C (p.Ser1628=)
2g.108768354T>GCA428204058RANBP2c.2603-3347T>G (n.2603-3347T>G)
c.2525-3347T>G (n.2525-3347T>G)
c.2681T>G
n.627T>G
c.446T>G
n.117T>G
c.7815T>G (p.Ser2605=)
c.7737T>G (p.Ser2579=)
c.4887T>G (p.Ser1629=)
c.7812T>G (p.Ser2604=)
c.7638T>G (p.Ser2546=)
c.5103T>G (p.Ser1701=)
c.4884T>G (p.Ser1628=)
2g.108768355T>ACA348080493RANBP2c.2603-3346T>A (n.2603-3346T>A)
c.2525-3346T>A (n.2525-3346T>A)
c.2682T>A
n.628T>A
c.447T>A
n.118T>A
c.7816T>A (p.Ser2606Thr)
c.7738T>A (p.Ser2580Thr)
c.4888T>A (p.Ser1630Thr)
c.7813T>A (p.Ser2605Thr)
c.7639T>A (p.Ser2547Thr)
c.5104T>A (p.Ser1702Thr)
c.4885T>A (p.Ser1629Thr)
 gnomAD v4
2g.108768355T>CCA348080495RANBP2c.2603-3346T>C (n.2603-3346T>C)
c.2525-3346T>C (n.2525-3346T>C)
c.2682T>C
n.628T>C
c.447T>C
n.118T>C
c.7816T>C (p.Ser2606Pro)
c.7738T>C (p.Ser2580Pro)
c.4888T>C (p.Ser1630Pro)
c.7813T>C (p.Ser2605Pro)
c.7639T>C (p.Ser2547Pro)
c.5104T>C (p.Ser1702Pro)
c.4885T>C (p.Ser1629Pro)
2g.108768355T>GCA348080497RANBP2c.2603-3346T>G (n.2603-3346T>G)
c.2525-3346T>G (n.2525-3346T>G)
c.2682T>G
n.628T>G
c.447T>G
n.118T>G
c.7816T>G (p.Ser2606Ala)
c.7738T>G (p.Ser2580Ala)
c.4888T>G (p.Ser1630Ala)
c.7813T>G (p.Ser2605Ala)
c.7639T>G (p.Ser2547Ala)
c.5104T>G (p.Ser1702Ala)
c.4885T>G (p.Ser1629Ala)
2g.108768356C>ACA348080499RANBP2c.2603-3345C>A (n.2603-3345C>A)
c.2525-3345C>A (n.2525-3345C>A)
c.2683C>A
n.629C>A
c.448C>A
n.119C>A
c.7817C>A (p.Ser2606Ter)
c.7739C>A (p.Ser2580Ter)
c.4889C>A (p.Ser1630Ter)
c.7814C>A (p.Ser2605Ter)
c.7640C>A (p.Ser2547Ter)
c.5105C>A (p.Ser1702Ter)
c.4886C>A (p.Ser1629Ter)
2g.108768356C=CA1278292635RANBP2c.2603-3345C= (n.2603-3345C=)
c.2525-3345C= (n.2525-3345C=)
c.2683C=
n.629C=
c.448C=
n.119C=
c.7817C= (p.Ser2606=)
c.7739C= (p.Ser2580=)
c.4889C= (p.Ser1630=)
c.7814C= (p.Ser2605=)
c.7640C= (p.Ser2547=)
c.5105C= (p.Ser1702=)
c.4886C= (p.Ser1629=)
2g.108768356C>GCA1823662RANBP2c.2603-3345C>G (n.2603-3345C>G)
c.2525-3345C>G (n.2525-3345C>G)
c.2683C>G
n.629C>G
c.448C>G
n.119C>G
c.7817C>G (p.Ser2606Ter)
c.7739C>G (p.Ser2580Ter)
c.4889C>G (p.Ser1630Ter)
c.7814C>G (p.Ser2605Ter)
c.7640C>G (p.Ser2547Ter)
c.5105C>G (p.Ser1702Ter)
c.4886C>G (p.Ser1629Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768356C>TCA348080504RANBP2c.2603-3345C>T (n.2603-3345C>T)
c.2525-3345C>T (n.2525-3345C>T)
c.2683C>T
n.629C>T
c.448C>T
n.119C>T
c.7817C>T (p.Ser2606Leu)
c.7739C>T (p.Ser2580Leu)
c.4889C>T (p.Ser1630Leu)
c.7814C>T (p.Ser2605Leu)
c.7640C>T (p.Ser2547Leu)
c.5105C>T (p.Ser1702Leu)
c.4886C>T (p.Ser1629Leu)
 dbSNP
2g.108768357A=CA1278292637RANBP2c.2603-3344A= (n.2603-3344A=)
c.2525-3344A= (n.2525-3344A=)
c.2684A=
n.630A=
c.449A=
n.120A=
c.7818A= (p.Ser2606=)
c.7740A= (p.Ser2580=)
c.4890A= (p.Ser1630=)
c.7815A= (p.Ser2605=)
c.7641A= (p.Ser2547=)
c.5106A= (p.Ser1702=)
c.4887A= (p.Ser1629=)
2g.108768357A>CCA1823663RANBP2c.2603-3344A>C (n.2603-3344A>C)
c.2525-3344A>C (n.2525-3344A>C)
c.2684A>C
n.630A>C
c.449A>C
n.120A>C
c.7818A>C (p.Ser2606=)
c.7740A>C (p.Ser2580=)
c.4890A>C (p.Ser1630=)
c.7815A>C (p.Ser2605=)
c.7641A>C (p.Ser2547=)
c.5106A>C (p.Ser1702=)
c.4887A>C (p.Ser1629=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768357A>GCA428204064RANBP2c.2603-3344A>G (n.2603-3344A>G)
c.2525-3344A>G (n.2525-3344A>G)
c.2684A>G
n.630A>G
c.449A>G
n.120A>G
c.7818A>G (p.Ser2606=)
c.7740A>G (p.Ser2580=)
c.4890A>G (p.Ser1630=)
c.7815A>G (p.Ser2605=)
c.7641A>G (p.Ser2547=)
c.5106A>G (p.Ser1702=)
c.4887A>G (p.Ser1629=)
2g.108768357A>TCA428204065RANBP2c.2603-3344A>T (n.2603-3344A>T)
c.2525-3344A>T (n.2525-3344A>T)
c.2684A>T
n.630A>T
c.449A>T
n.120A>T
c.7818A>T (p.Ser2606=)
c.7740A>T (p.Ser2580=)
c.4890A>T (p.Ser1630=)
c.7815A>T (p.Ser2605=)
c.7641A>T (p.Ser2547=)
c.5106A>T (p.Ser1702=)
c.4887A>T (p.Ser1629=)
2g.108768358A>CCA348080515RANBP2c.2603-3343A>C (n.2603-3343A>C)
c.2525-3343A>C (n.2525-3343A>C)
c.2685A>C
n.631A>C
c.450A>C
n.121A>C
c.7819A>C (p.Ile2607Leu)
c.7741A>C (p.Ile2581Leu)
c.4891A>C (p.Ile1631Leu)
c.7816A>C (p.Ile2606Leu)
c.7642A>C (p.Ile2548Leu)
c.5107A>C (p.Ile1703Leu)
c.4888A>C (p.Ile1630Leu)
2g.108768358A>GCA348080511RANBP2c.2603-3343A>G (n.2603-3343A>G)
c.2525-3343A>G (n.2525-3343A>G)
c.2685A>G
n.631A>G
c.450A>G
n.121A>G
c.7819A>G (p.Ile2607Val)
c.7741A>G (p.Ile2581Val)
c.4891A>G (p.Ile1631Val)
c.7816A>G (p.Ile2606Val)
c.7642A>G (p.Ile2548Val)
c.5107A>G (p.Ile1703Val)
c.4888A>G (p.Ile1630Val)
 gnomAD v4
2g.108768358A>TCA348080513RANBP2c.2603-3343A>T (n.2603-3343A>T)
c.2525-3343A>T (n.2525-3343A>T)
c.2685A>T
n.631A>T
c.450A>T
n.121A>T
c.7819A>T (p.Ile2607Phe)
c.7741A>T (p.Ile2581Phe)
c.4891A>T (p.Ile1631Phe)
c.7816A>T (p.Ile2606Phe)
c.7642A>T (p.Ile2548Phe)
c.5107A>T (p.Ile1703Phe)
c.4888A>T (p.Ile1630Phe)
 dbSNP
2g.108768359T>ACA348080519RANBP2c.2603-3342T>A (n.2603-3342T>A)
c.2525-3342T>A (n.2525-3342T>A)
c.2686T>A
n.632T>A
c.451T>A
n.122T>A
c.7820T>A (p.Ile2607Asn)
c.7742T>A (p.Ile2581Asn)
c.4892T>A (p.Ile1631Asn)
c.7817T>A (p.Ile2606Asn)
c.7643T>A (p.Ile2548Asn)
c.5108T>A (p.Ile1703Asn)
c.4889T>A (p.Ile1630Asn)
2g.108768359T>CCA348080520RANBP2c.2603-3342T>C (n.2603-3342T>C)
c.2525-3342T>C (n.2525-3342T>C)
c.2686T>C
n.632T>C
c.451T>C
n.122T>C
c.7820T>C (p.Ile2607Thr)
c.7742T>C (p.Ile2581Thr)
c.4892T>C (p.Ile1631Thr)
c.7817T>C (p.Ile2606Thr)
c.7643T>C (p.Ile2548Thr)
c.5108T>C (p.Ile1703Thr)
c.4889T>C (p.Ile1630Thr)
2g.108768359T>GCA348080523RANBP2c.2603-3342T>G (n.2603-3342T>G)
c.2525-3342T>G (n.2525-3342T>G)
c.2686T>G
n.632T>G
c.451T>G
n.122T>G
c.7820T>G (p.Ile2607Ser)
c.7742T>G (p.Ile2581Ser)
c.4892T>G (p.Ile1631Ser)
c.7817T>G (p.Ile2606Ser)
c.7643T>G (p.Ile2548Ser)
c.5108T>G (p.Ile1703Ser)
c.4889T>G (p.Ile1630Ser)
2g.108768360C>ACA428204068RANBP2c.2603-3341C>A (n.2603-3341C>A)
c.2525-3341C>A (n.2525-3341C>A)
c.2687C>A
n.633C>A
c.452C>A
n.123C>A
c.7821C>A (p.Ile2607=)
c.7743C>A (p.Ile2581=)
c.4893C>A (p.Ile1631=)
c.7818C>A (p.Ile2606=)
c.7644C>A (p.Ile2548=)
c.5109C>A (p.Ile1703=)
c.4890C>A (p.Ile1630=)
 dbSNP gnomAD v2 gnomAD v4
2g.108768360C=CA1278292639RANBP2c.2603-3341C= (n.2603-3341C=)
c.2525-3341C= (n.2525-3341C=)
c.2687C=
n.633C=
c.452C=
n.123C=
c.7821C= (p.Ile2607=)
c.7743C= (p.Ile2581=)
c.4893C= (p.Ile1631=)
c.7818C= (p.Ile2606=)
c.7644C= (p.Ile2548=)
c.5109C= (p.Ile1703=)
c.4890C= (p.Ile1630=)
2g.108768360C>GCA348080526RANBP2c.2603-3341C>G (n.2603-3341C>G)
c.2525-3341C>G (n.2525-3341C>G)
c.2687C>G
n.633C>G
c.452C>G
n.123C>G
c.7821C>G (p.Ile2607Met)
c.7743C>G (p.Ile2581Met)
c.4893C>G (p.Ile1631Met)
c.7818C>G (p.Ile2606Met)
c.7644C>G (p.Ile2548Met)
c.5109C>G (p.Ile1703Met)
c.4890C>G (p.Ile1630Met)
 COSMIC
2g.108768360C>TCA428204066RANBP2c.2603-3341C>T (n.2603-3341C>T)
c.2525-3341C>T (n.2525-3341C>T)
c.2687C>T
n.633C>T
c.452C>T
n.123C>T
c.7821C>T (p.Ile2607=)
c.7743C>T (p.Ile2581=)
c.4893C>T (p.Ile1631=)
c.7818C>T (p.Ile2606=)
c.7644C>T (p.Ile2548=)
c.5109C>T (p.Ile1703=)
c.4890C>T (p.Ile1630=)
2g.108768361A=CA1278292640RANBP2c.2603-3340A= (n.2603-3340A=)
c.2525-3340A= (n.2525-3340A=)
c.2688A=
n.634A=
c.453A=
n.124A=
c.7822A= (p.Asn2608=)
c.7744A= (p.Asn2582=)
c.4894A= (p.Asn1632=)
c.7819A= (p.Asn2607=)
c.7645A= (p.Asn2549=)
c.5110A= (p.Asn1704=)
c.4891A= (p.Asn1631=)
2g.108768361A>CCA348080529RANBP2c.2603-3340A>C (n.2603-3340A>C)
c.2525-3340A>C (n.2525-3340A>C)
c.2688A>C
n.634A>C
c.453A>C
n.124A>C
c.7822A>C (p.Asn2608His)
c.7744A>C (p.Asn2582His)
c.4894A>C (p.Asn1632His)
c.7819A>C (p.Asn2607His)
c.7645A>C (p.Asn2549His)
c.5110A>C (p.Asn1704His)
c.4891A>C (p.Asn1631His)
2g.108768361A>GCA348080530RANBP2c.2603-3340A>G (n.2603-3340A>G)
c.2525-3340A>G (n.2525-3340A>G)
c.2688A>G
n.634A>G
c.453A>G
n.124A>G
c.7822A>G (p.Asn2608Asp)
c.7744A>G (p.Asn2582Asp)
c.4894A>G (p.Asn1632Asp)
c.7819A>G (p.Asn2607Asp)
c.7645A>G (p.Asn2549Asp)
c.5110A>G (p.Asn1704Asp)
c.4891A>G (p.Asn1631Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.108768361A>TCA348080533RANBP2c.2603-3340A>T (n.2603-3340A>T)
c.2525-3340A>T (n.2525-3340A>T)
c.2688A>T
n.634A>T
c.453A>T
n.124A>T
c.7822A>T (p.Asn2608Tyr)
c.7744A>T (p.Asn2582Tyr)
c.4894A>T (p.Asn1632Tyr)
c.7819A>T (p.Asn2607Tyr)
c.7645A>T (p.Asn2549Tyr)
c.5110A>T (p.Asn1704Tyr)
c.4891A>T (p.Asn1631Tyr)
2g.108768362A=CA1278292641RANBP2c.2603-3339A= (n.2603-3339A=)
c.2525-3339A= (n.2525-3339A=)
c.2689A=
n.635A=
c.454A=
n.125A=
c.7823A= (p.Asn2608=)
c.7745A= (p.Asn2582=)
c.4895A= (p.Asn1632=)
c.7820A= (p.Asn2607=)
c.7646A= (p.Asn2549=)
c.5111A= (p.Asn1704=)
c.4892A= (p.Asn1631=)
2g.108768362A>CCA348080537RANBP2c.2603-3339A>C (n.2603-3339A>C)
c.2525-3339A>C (n.2525-3339A>C)
c.2689A>C
n.635A>C
c.454A>C
n.125A>C
c.7823A>C (p.Asn2608Thr)
c.7745A>C (p.Asn2582Thr)
c.4895A>C (p.Asn1632Thr)
c.7820A>C (p.Asn2607Thr)
c.7646A>C (p.Asn2549Thr)
c.5111A>C (p.Asn1704Thr)
c.4892A>C (p.Asn1631Thr)
2g.108768362A>GCA348080539RANBP2c.2603-3339A>G (n.2603-3339A>G)
c.2525-3339A>G (n.2525-3339A>G)
c.2689A>G
n.635A>G
c.454A>G
n.125A>G
c.7823A>G (p.Asn2608Ser)
c.7745A>G (p.Asn2582Ser)
c.4895A>G (p.Asn1632Ser)
c.7820A>G (p.Asn2607Ser)
c.7646A>G (p.Asn2549Ser)
c.5111A>G (p.Asn1704Ser)
c.4892A>G (p.Asn1631Ser)
 dbSNP gnomAD v4
2g.108768362A>TCA348080540RANBP2c.2603-3339A>T (n.2603-3339A>T)
c.2525-3339A>T (n.2525-3339A>T)
c.2689A>T
n.635A>T
c.454A>T
n.125A>T
c.7823A>T (p.Asn2608Ile)
c.7745A>T (p.Asn2582Ile)
c.4895A>T (p.Asn1632Ile)
c.7820A>T (p.Asn2607Ile)
c.7646A>T (p.Asn2549Ile)
c.5111A>T (p.Asn1704Ile)
c.4892A>T (p.Asn1631Ile)
2g.108768363C>ACA348080543RANBP2c.2603-3338C>A (n.2603-3338C>A)
c.2525-3338C>A (n.2525-3338C>A)
c.2690C>A
n.636C>A
c.455C>A
n.126C>A
c.7824C>A (p.Asn2608Lys)
c.7746C>A (p.Asn2582Lys)
c.4896C>A (p.Asn1632Lys)
c.7821C>A (p.Asn2607Lys)
c.7647C>A (p.Asn2549Lys)
c.5112C>A (p.Asn1704Lys)
c.4893C>A (p.Asn1631Lys)
2g.108768363C=CA1278292643RANBP2c.2603-3338C= (n.2603-3338C=)
c.2525-3338C= (n.2525-3338C=)
c.2690C=
n.636C=
c.455C=
n.126C=
c.7824C= (p.Asn2608=)
c.7746C= (p.Asn2582=)
c.4896C= (p.Asn1632=)
c.7821C= (p.Asn2607=)
c.7647C= (p.Asn2549=)
c.5112C= (p.Asn1704=)
c.4893C= (p.Asn1631=)
2g.108768363C>GCA348080544RANBP2c.2603-3338C>G (n.2603-3338C>G)
c.2525-3338C>G (n.2525-3338C>G)
c.2690C>G
n.636C>G
c.455C>G
n.126C>G
c.7824C>G (p.Asn2608Lys)
c.7746C>G (p.Asn2582Lys)
c.4896C>G (p.Asn1632Lys)
c.7821C>G (p.Asn2607Lys)
c.7647C>G (p.Asn2549Lys)
c.5112C>G (p.Asn1704Lys)
c.4893C>G (p.Asn1631Lys)
2g.108768363C>TCA428204070RANBP2c.2603-3338C>T (n.2603-3338C>T)
c.2525-3338C>T (n.2525-3338C>T)
c.2690C>T
n.636C>T
c.455C>T
n.126C>T
c.7824C>T (p.Asn2608=)
c.7746C>T (p.Asn2582=)
c.4896C>T (p.Asn1632=)
c.7821C>T (p.Asn2607=)
c.7647C>T (p.Asn2549=)
c.5112C>T (p.Asn1704=)
c.4893C>T (p.Asn1631=)
 dbSNP
2g.108768364T>ACA348080553RANBP2c.2603-3337T>A (n.2603-3337T>A)
c.2525-3337T>A (n.2525-3337T>A)
c.2691T>A
n.637T>A
c.456T>A
n.127T>A
c.7825T>A (p.Tyr2609Asn)
c.7747T>A (p.Tyr2583Asn)
c.4897T>A (p.Tyr1633Asn)
c.7822T>A (p.Tyr2608Asn)
c.7648T>A (p.Tyr2550Asn)
c.5113T>A (p.Tyr1705Asn)
c.4894T>A (p.Tyr1632Asn)
 gnomAD v4
2g.108768364T>CCA348080550RANBP2c.2603-3337T>C (n.2603-3337T>C)
c.2525-3337T>C (n.2525-3337T>C)
c.2691T>C
n.637T>C
c.456T>C
n.127T>C
c.7825T>C (p.Tyr2609His)
c.7747T>C (p.Tyr2583His)
c.4897T>C (p.Tyr1633His)
c.7822T>C (p.Tyr2608His)
c.7648T>C (p.Tyr2550His)
c.5113T>C (p.Tyr1705His)
c.4894T>C (p.Tyr1632His)
 dbSNP gnomAD v4
2g.108768364T>GCA348080548RANBP2c.2603-3337T>G (n.2603-3337T>G)
c.2525-3337T>G (n.2525-3337T>G)
c.2691T>G
n.637T>G
c.456T>G
n.127T>G
c.7825T>G (p.Tyr2609Asp)
c.7747T>G (p.Tyr2583Asp)
c.4897T>G (p.Tyr1633Asp)
c.7822T>G (p.Tyr2608Asp)
c.7648T>G (p.Tyr2550Asp)
c.5113T>G (p.Tyr1705Asp)
c.4894T>G (p.Tyr1632Asp)
2g.108768364T=CA1278292645RANBP2c.2603-3337T= (n.2603-3337T=)
c.2525-3337T= (n.2525-3337T=)
c.2691T=
n.637T=
c.456T=
n.127T=
c.7825T= (p.Tyr2609=)
c.7747T= (p.Tyr2583=)
c.4897T= (p.Tyr1633=)
c.7822T= (p.Tyr2608=)
c.7648T= (p.Tyr2550=)
c.5113T= (p.Tyr1705=)
c.4894T= (p.Tyr1632=)
2g.108768365A=CA1278292647RANBP2c.2603-3336A= (n.2603-3336A=)
c.2525-3336A= (n.2525-3336A=)
c.2692A=
n.638A=
c.457A=
n.128A=
c.7826A= (p.Tyr2609=)
c.7748A= (p.Tyr2583=)
c.4898A= (p.Tyr1633=)
c.7823A= (p.Tyr2608=)
c.7649A= (p.Tyr2550=)
c.5114A= (p.Tyr1705=)
c.4895A= (p.Tyr1632=)
2g.108768365A>CCA348080557RANBP2c.2603-3336A>C (n.2603-3336A>C)
c.2525-3336A>C (n.2525-3336A>C)
c.2692A>C
n.638A>C
c.457A>C
n.128A>C
c.7826A>C (p.Tyr2609Ser)
c.7748A>C (p.Tyr2583Ser)
c.4898A>C (p.Tyr1633Ser)
c.7823A>C (p.Tyr2608Ser)
c.7649A>C (p.Tyr2550Ser)
c.5114A>C (p.Tyr1705Ser)
c.4895A>C (p.Tyr1632Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.108768365A>GCA348080562RANBP2c.2603-3336A>G (n.2603-3336A>G)
c.2525-3336A>G (n.2525-3336A>G)
c.2692A>G
n.638A>G
c.457A>G
n.128A>G
c.7826A>G (p.Tyr2609Cys)
c.7748A>G (p.Tyr2583Cys)
c.4898A>G (p.Tyr1633Cys)
c.7823A>G (p.Tyr2608Cys)
c.7649A>G (p.Tyr2550Cys)
c.5114A>G (p.Tyr1705Cys)
c.4895A>G (p.Tyr1632Cys)
 dbSNP
2g.108768365A>TCA348080560RANBP2c.2603-3336A>T (n.2603-3336A>T)
c.2525-3336A>T (n.2525-3336A>T)
c.2692A>T
n.638A>T
c.457A>T
n.128A>T
c.7826A>T (p.Tyr2609Phe)
c.7748A>T (p.Tyr2583Phe)
c.4898A>T (p.Tyr1633Phe)
c.7823A>T (p.Tyr2608Phe)
c.7649A>T (p.Tyr2550Phe)
c.5114A>T (p.Tyr1705Phe)
c.4895A>T (p.Tyr1632Phe)
2g.108768366C>ACA348080566RANBP2c.2603-3335C>A (n.2603-3335C>A)
c.2525-3335C>A (n.2525-3335C>A)
c.2693C>A
n.639C>A
c.458C>A
n.129C>A
c.7827C>A (p.Tyr2609Ter)
c.7749C>A (p.Tyr2583Ter)
c.4899C>A (p.Tyr1633Ter)
c.7824C>A (p.Tyr2608Ter)
c.7650C>A (p.Tyr2550Ter)
c.5115C>A (p.Tyr1705Ter)
c.4896C>A (p.Tyr1632Ter)
2g.108768366C=CA1278292650RANBP2c.2603-3335C= (n.2603-3335C=)
c.2525-3335C= (n.2525-3335C=)
c.2693C=
n.639C=
c.458C=
n.129C=
c.7827C= (p.Tyr2609=)
c.7749C= (p.Tyr2583=)
c.4899C= (p.Tyr1633=)
c.7824C= (p.Tyr2608=)
c.7650C= (p.Tyr2550=)
c.5115C= (p.Tyr1705=)
c.4896C= (p.Tyr1632=)
2g.108768366C>GCA348080568RANBP2c.2603-3335C>G (n.2603-3335C>G)
c.2525-3335C>G (n.2525-3335C>G)
c.2693C>G
n.639C>G
c.458C>G
n.129C>G
c.7827C>G (p.Tyr2609Ter)
c.7749C>G (p.Tyr2583Ter)
c.4899C>G (p.Tyr1633Ter)
c.7824C>G (p.Tyr2608Ter)
c.7650C>G (p.Tyr2550Ter)
c.5115C>G (p.Tyr1705Ter)
c.4896C>G (p.Tyr1632Ter)
2g.108768366C>TCA1823664RANBP2c.2603-3335C>T (n.2603-3335C>T)
c.2525-3335C>T (n.2525-3335C>T)
c.2693C>T
n.639C>T
c.458C>T
n.129C>T
c.7827C>T (p.Tyr2609=)
c.7749C>T (p.Tyr2583=)
c.4899C>T (p.Tyr1633=)
c.7824C>T (p.Tyr2608=)
c.7650C>T (p.Tyr2550=)
c.5115C>T (p.Tyr1705=)
c.4896C>T (p.Tyr1632=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768367A=CA1278292653RANBP2c.2603-3334A= (n.2603-3334A=)
c.2525-3334A= (n.2525-3334A=)
c.2694A=
n.640A=
c.459A=
n.130A=
c.7828A= (p.Thr2610=)
c.7750A= (p.Thr2584=)
c.4900A= (p.Thr1634=)
c.7825A= (p.Thr2609=)
c.7651A= (p.Thr2551=)
c.5116A= (p.Thr1706=)
c.4897A= (p.Thr1633=)
2g.108768367A>CCA348080572RANBP2c.2603-3334A>C (n.2603-3334A>C)
c.2525-3334A>C (n.2525-3334A>C)
c.2694A>C
n.640A>C
c.459A>C
n.130A>C
c.7828A>C (p.Thr2610Pro)
c.7750A>C (p.Thr2584Pro)
c.4900A>C (p.Thr1634Pro)
c.7825A>C (p.Thr2609Pro)
c.7651A>C (p.Thr2551Pro)
c.5116A>C (p.Thr1706Pro)
c.4897A>C (p.Thr1633Pro)
2g.108768367A>GCA1823665RANBP2c.2603-3334A>G (n.2603-3334A>G)
c.2525-3334A>G (n.2525-3334A>G)
c.2694A>G
n.640A>G
c.459A>G
n.130A>G
c.7828A>G (p.Thr2610Ala)
c.7750A>G (p.Thr2584Ala)
c.4900A>G (p.Thr1634Ala)
c.7825A>G (p.Thr2609Ala)
c.7651A>G (p.Thr2551Ala)
c.5116A>G (p.Thr1706Ala)
c.4897A>G (p.Thr1633Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768367A>TCA348080576RANBP2c.2603-3334A>T (n.2603-3334A>T)
c.2525-3334A>T (n.2525-3334A>T)
c.2694A>T
n.640A>T
c.459A>T
n.130A>T
c.7828A>T (p.Thr2610Ser)
c.7750A>T (p.Thr2584Ser)
c.4900A>T (p.Thr1634Ser)
c.7825A>T (p.Thr2609Ser)
c.7651A>T (p.Thr2551Ser)
c.5116A>T (p.Thr1706Ser)
c.4897A>T (p.Thr1633Ser)
2g.108768368C>ACA348080580RANBP2c.2603-3333C>A (n.2603-3333C>A)
c.2525-3333C>A (n.2525-3333C>A)
c.2695C>A
n.641C>A
c.460C>A
n.131C>A
c.7829C>A (p.Thr2610Lys)
c.7751C>A (p.Thr2584Lys)
c.4901C>A (p.Thr1634Lys)
c.7826C>A (p.Thr2609Lys)
c.7652C>A (p.Thr2551Lys)
c.5117C>A (p.Thr1706Lys)
c.4898C>A (p.Thr1633Lys)
2g.108768368C>GCA348080582RANBP2c.2603-3333C>G (n.2603-3333C>G)
c.2525-3333C>G (n.2525-3333C>G)
c.2695C>G
n.641C>G
c.460C>G
n.131C>G
c.7829C>G (p.Thr2610Arg)
c.7751C>G (p.Thr2584Arg)
c.4901C>G (p.Thr1634Arg)
c.7826C>G (p.Thr2609Arg)
c.7652C>G (p.Thr2551Arg)
c.5117C>G (p.Thr1706Arg)
c.4898C>G (p.Thr1633Arg)
2g.108768368C>TCA348080584RANBP2c.2603-3333C>T (n.2603-3333C>T)
c.2525-3333C>T (n.2525-3333C>T)
c.2695C>T
n.641C>T
c.460C>T
n.131C>T
c.7829C>T (p.Thr2610Ile)
c.7751C>T (p.Thr2584Ile)
c.4901C>T (p.Thr1634Ile)
c.7826C>T (p.Thr2609Ile)
c.7652C>T (p.Thr2551Ile)
c.5117C>T (p.Thr1706Ile)
c.4898C>T (p.Thr1633Ile)
2g.108768369A>CCA428204082RANBP2c.2603-3332A>C (n.2603-3332A>C)
c.2525-3332A>C (n.2525-3332A>C)
c.2696A>C
n.642A>C
c.461A>C
n.132A>C
c.7830A>C (p.Thr2610=)
c.7752A>C (p.Thr2584=)
c.4902A>C (p.Thr1634=)
c.7827A>C (p.Thr2609=)
c.7653A>C (p.Thr2551=)
c.5118A>C (p.Thr1706=)
c.4899A>C (p.Thr1633=)
2g.108768369A>GCA428204083RANBP2c.2603-3332A>G (n.2603-3332A>G)
c.2525-3332A>G (n.2525-3332A>G)
c.2696A>G
n.642A>G
c.461A>G
n.132A>G
c.7830A>G (p.Thr2610=)
c.7752A>G (p.Thr2584=)
c.4902A>G (p.Thr1634=)
c.7827A>G (p.Thr2609=)
c.7653A>G (p.Thr2551=)
c.5118A>G (p.Thr1706=)
c.4899A>G (p.Thr1633=)
 gnomAD v4
2g.108768369A>TCA428204084RANBP2c.2603-3332A>T (n.2603-3332A>T)
c.2525-3332A>T (n.2525-3332A>T)
c.2696A>T
n.642A>T
c.461A>T
n.132A>T
c.7830A>T (p.Thr2610=)
c.7752A>T (p.Thr2584=)
c.4902A>T (p.Thr1634=)
c.7827A>T (p.Thr2609=)
c.7653A>T (p.Thr2551=)
c.5118A>T (p.Thr1706=)
c.4899A>T (p.Thr1633=)
2g.108768370T>ACA348080586RANBP2c.2603-3331T>A (n.2603-3331T>A)
c.2525-3331T>A (n.2525-3331T>A)
c.2697T>A
n.643T>A
c.462T>A
n.133T>A
c.7831T>A (p.Phe2611Ile)
c.7753T>A (p.Phe2585Ile)
c.4903T>A (p.Phe1635Ile)
c.7828T>A (p.Phe2610Ile)
c.7654T>A (p.Phe2552Ile)
c.5119T>A (p.Phe1707Ile)
c.4900T>A (p.Phe1634Ile)
 ClinVar dbSNP gnomAD v4
2g.108768370T>CCA348080587RANBP2c.2603-3331T>C (n.2603-3331T>C)
c.2525-3331T>C (n.2525-3331T>C)
c.2697T>C
n.643T>C
c.462T>C
n.133T>C
c.7831T>C (p.Phe2611Leu)
c.7753T>C (p.Phe2585Leu)
c.4903T>C (p.Phe1635Leu)
c.7828T>C (p.Phe2610Leu)
c.7654T>C (p.Phe2552Leu)
c.5119T>C (p.Phe1707Leu)
c.4900T>C (p.Phe1634Leu)
2g.108768370T>GCA348080588RANBP2c.2603-3331T>G (n.2603-3331T>G)
c.2525-3331T>G (n.2525-3331T>G)
c.2697T>G
n.643T>G
c.462T>G
n.133T>G
c.7831T>G (p.Phe2611Val)
c.7753T>G (p.Phe2585Val)
c.4903T>G (p.Phe1635Val)
c.7828T>G (p.Phe2610Val)
c.7654T>G (p.Phe2552Val)
c.5119T>G (p.Phe1707Val)
c.4900T>G (p.Phe1634Val)
2g.108768370T=CA1278292655RANBP2c.2603-3331T= (n.2603-3331T=)
c.2525-3331T= (n.2525-3331T=)
c.2697T=
n.643T=
c.462T=
n.133T=
c.7831T= (p.Phe2611=)
c.7753T= (p.Phe2585=)
c.4903T= (p.Phe1635=)
c.7828T= (p.Phe2610=)
c.7654T= (p.Phe2552=)
c.5119T= (p.Phe1707=)
c.4900T= (p.Phe1634=)
2g.108768371T>ACA348080589RANBP2c.2603-3330T>A (n.2603-3330T>A)
c.2525-3330T>A (n.2525-3330T>A)
c.2698T>A
n.644T>A
c.463T>A
n.134T>A
c.7832T>A (p.Phe2611Tyr)
c.7754T>A (p.Phe2585Tyr)
c.4904T>A (p.Phe1635Tyr)
c.7829T>A (p.Phe2610Tyr)
c.7655T>A (p.Phe2552Tyr)
c.5120T>A (p.Phe1707Tyr)
c.4901T>A (p.Phe1634Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.108768371T>CCA348080592RANBP2c.2603-3330T>C (n.2603-3330T>C)
c.2525-3330T>C (n.2525-3330T>C)
c.2698T>C
n.644T>C
c.463T>C
n.134T>C
c.7832T>C (p.Phe2611Ser)
c.7754T>C (p.Phe2585Ser)
c.4904T>C (p.Phe1635Ser)
c.7829T>C (p.Phe2610Ser)
c.7655T>C (p.Phe2552Ser)
c.5120T>C (p.Phe1707Ser)
c.4901T>C (p.Phe1634Ser)
2g.108768371T>GCA348080590RANBP2c.2603-3330T>G (n.2603-3330T>G)
c.2525-3330T>G (n.2525-3330T>G)
c.2698T>G
n.644T>G
c.463T>G
n.134T>G
c.7832T>G (p.Phe2611Cys)
c.7754T>G (p.Phe2585Cys)
c.4904T>G (p.Phe1635Cys)
c.7829T>G (p.Phe2610Cys)
c.7655T>G (p.Phe2552Cys)
c.5120T>G (p.Phe1707Cys)
c.4901T>G (p.Phe1634Cys)
2g.108768371T=CA1278292658RANBP2c.2603-3330T= (n.2603-3330T=)
c.2525-3330T= (n.2525-3330T=)
c.2698T=
n.644T=
c.463T=
n.134T=
c.7832T= (p.Phe2611=)
c.7754T= (p.Phe2585=)
c.4904T= (p.Phe1635=)
c.7829T= (p.Phe2610=)
c.7655T= (p.Phe2552=)
c.5120T= (p.Phe1707=)
c.4901T= (p.Phe1634=)
2g.108768372T>ACA348080595RANBP2c.2603-3329T>A (n.2603-3329T>A)
c.2525-3329T>A (n.2525-3329T>A)
c.2699T>A
n.645T>A
c.464T>A
n.135T>A
c.7833T>A (p.Phe2611Leu)
c.7755T>A (p.Phe2585Leu)
c.4905T>A (p.Phe1635Leu)
c.7830T>A (p.Phe2610Leu)
c.7656T>A (p.Phe2552Leu)
c.5121T>A (p.Phe1707Leu)
c.4902T>A (p.Phe1634Leu)
2g.108768372T>CCA428204087RANBP2c.2603-3329T>C (n.2603-3329T>C)
c.2525-3329T>C (n.2525-3329T>C)
c.2699T>C
n.645T>C
c.464T>C
n.135T>C
c.7833T>C (p.Phe2611=)
c.7755T>C (p.Phe2585=)
c.4905T>C (p.Phe1635=)
c.7830T>C (p.Phe2610=)
c.7656T>C (p.Phe2552=)
c.5121T>C (p.Phe1707=)
c.4902T>C (p.Phe1634=)
2g.108768372T>GCA348080597RANBP2c.2603-3329T>G (n.2603-3329T>G)
c.2525-3329T>G (n.2525-3329T>G)
c.2699T>G
n.645T>G
c.464T>G
n.135T>G
c.7833T>G (p.Phe2611Leu)
c.7755T>G (p.Phe2585Leu)
c.4905T>G (p.Phe1635Leu)
c.7830T>G (p.Phe2610Leu)
c.7656T>G (p.Phe2552Leu)
c.5121T>G (p.Phe1707Leu)
c.4902T>G (p.Phe1634Leu)
 gnomAD v4
2g.108768373A>CCA348080600RANBP2c.2603-3328A>C (n.2603-3328A>C)
c.2525-3328A>C (n.2525-3328A>C)
c.2700A>C
n.646A>C
c.465A>C
n.136A>C
c.7834A>C (p.Lys2612Gln)
c.7756A>C (p.Lys2586Gln)
c.4906A>C (p.Lys1636Gln)
c.7831A>C (p.Lys2611Gln)
c.7657A>C (p.Lys2553Gln)
c.5122A>C (p.Lys1708Gln)
c.4903A>C (p.Lys1635Gln)
2g.108768373A>GCA348080602RANBP2c.2603-3328A>G (n.2603-3328A>G)
c.2525-3328A>G (n.2525-3328A>G)
c.2700A>G
n.646A>G
c.465A>G
n.136A>G
c.7834A>G (p.Lys2612Glu)
c.7756A>G (p.Lys2586Glu)
c.4906A>G (p.Lys1636Glu)
c.7831A>G (p.Lys2611Glu)
c.7657A>G (p.Lys2553Glu)
c.5122A>G (p.Lys1708Glu)
c.4903A>G (p.Lys1635Glu)
2g.108768373A>TCA348080603RANBP2c.2603-3328A>T (n.2603-3328A>T)
c.2525-3328A>T (n.2525-3328A>T)
c.2700A>T
n.646A>T
c.465A>T
n.136A>T
c.7834A>T (p.Lys2612Ter)
c.7756A>T (p.Lys2586Ter)
c.4906A>T (p.Lys1636Ter)
c.7831A>T (p.Lys2611Ter)
c.7657A>T (p.Lys2553Ter)
c.5122A>T (p.Lys1708Ter)
c.4903A>T (p.Lys1635Ter)
2g.108768374A=CA1278292660RANBP2c.2603-3327A= (n.2603-3327A=)
c.2525-3327A= (n.2525-3327A=)
c.2701A=
n.647A=
c.466A=
n.137A=
c.7835A= (p.Lys2612=)
c.7757A= (p.Lys2586=)
c.4907A= (p.Lys1636=)
c.7832A= (p.Lys2611=)
c.7658A= (p.Lys2553=)
c.5123A= (p.Lys1708=)
c.4904A= (p.Lys1635=)
2g.108768374A>CCA1823666RANBP2c.2603-3327A>C (n.2603-3327A>C)
c.2525-3327A>C (n.2525-3327A>C)
c.2701A>C
n.647A>C
c.466A>C
n.137A>C
c.7835A>C (p.Lys2612Thr)
c.7757A>C (p.Lys2586Thr)
c.4907A>C (p.Lys1636Thr)
c.7832A>C (p.Lys2611Thr)
c.7658A>C (p.Lys2553Thr)
c.5123A>C (p.Lys1708Thr)
c.4904A>C (p.Lys1635Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768374A>GCA348080609RANBP2c.2603-3327A>G (n.2603-3327A>G)
c.2525-3327A>G (n.2525-3327A>G)
c.2701A>G
n.647A>G
c.466A>G
n.137A>G
c.7835A>G (p.Lys2612Arg)
c.7757A>G (p.Lys2586Arg)
c.4907A>G (p.Lys1636Arg)
c.7832A>G (p.Lys2611Arg)
c.7658A>G (p.Lys2553Arg)
c.5123A>G (p.Lys1708Arg)
c.4904A>G (p.Lys1635Arg)
2g.108768374A>TCA348080611RANBP2c.2603-3327A>T (n.2603-3327A>T)
c.2525-3327A>T (n.2525-3327A>T)
c.2701A>T
n.647A>T
c.466A>T
n.137A>T
c.7835A>T (p.Lys2612Ile)
c.7757A>T (p.Lys2586Ile)
c.4907A>T (p.Lys1636Ile)
c.7832A>T (p.Lys2611Ile)
c.7658A>T (p.Lys2553Ile)
c.5123A>T (p.Lys1708Ile)
c.4904A>T (p.Lys1635Ile)
2g.108768375A=CA1278292662RANBP2c.2603-3326A= (n.2603-3326A=)
c.2525-3326A= (n.2525-3326A=)
c.2702A=
n.648A=
c.467A=
n.138A=
c.7836A= (p.Lys2612=)
c.7758A= (p.Lys2586=)
c.4908A= (p.Lys1636=)
c.7833A= (p.Lys2611=)
c.7659A= (p.Lys2553=)
c.5124A= (p.Lys1708=)
c.4905A= (p.Lys1635=)
2g.108768375A>CCA348080615RANBP2c.2603-3326A>C (n.2603-3326A>C)
c.2525-3326A>C (n.2525-3326A>C)
c.2702A>C
n.648A>C
c.467A>C
n.138A>C
c.7836A>C (p.Lys2612Asn)
c.7758A>C (p.Lys2586Asn)
c.4908A>C (p.Lys1636Asn)
c.7833A>C (p.Lys2611Asn)
c.7659A>C (p.Lys2553Asn)
c.5124A>C (p.Lys1708Asn)
c.4905A>C (p.Lys1635Asn)
 dbSNP
2g.108768375A>GCA428204093RANBP2c.2603-3326A>G (n.2603-3326A>G)
c.2525-3326A>G (n.2525-3326A>G)
c.2702A>G
n.648A>G
c.467A>G
n.138A>G
c.7836A>G (p.Lys2612=)
c.7758A>G (p.Lys2586=)
c.4908A>G (p.Lys1636=)
c.7833A>G (p.Lys2611=)
c.7659A>G (p.Lys2553=)
c.5124A>G (p.Lys1708=)
c.4905A>G (p.Lys1635=)
 gnomAD v4
2g.108768375A>TCA348080617RANBP2c.2603-3326A>T (n.2603-3326A>T)
c.2525-3326A>T (n.2525-3326A>T)
c.2702A>T
n.648A>T
c.467A>T
n.138A>T
c.7836A>T (p.Lys2612Asn)
c.7758A>T (p.Lys2586Asn)
c.4908A>T (p.Lys1636Asn)
c.7833A>T (p.Lys2611Asn)
c.7659A>T (p.Lys2553Asn)
c.5124A>T (p.Lys1708Asn)
c.4905A>T (p.Lys1635Asn)
2g.108768376A>CCA348080622RANBP2c.2603-3325A>C (n.2603-3325A>C)
c.2525-3325A>C (n.2525-3325A>C)
c.2703A>C
n.649A>C
c.468A>C
n.139A>C
c.7837A>C (p.Thr2613Pro)
c.7759A>C (p.Thr2587Pro)
c.4909A>C (p.Thr1637Pro)
c.7834A>C (p.Thr2612Pro)
c.7660A>C (p.Thr2554Pro)
c.5125A>C (p.Thr1709Pro)
c.4906A>C (p.Thr1636Pro)
2g.108768376A>GCA348080625RANBP2c.2603-3325A>G (n.2603-3325A>G)
c.2525-3325A>G (n.2525-3325A>G)
c.2703A>G
n.649A>G
c.468A>G
n.139A>G
c.7837A>G (p.Thr2613Ala)
c.7759A>G (p.Thr2587Ala)
c.4909A>G (p.Thr1637Ala)
c.7834A>G (p.Thr2612Ala)
c.7660A>G (p.Thr2554Ala)
c.5125A>G (p.Thr1709Ala)
c.4906A>G (p.Thr1636Ala)
2g.108768376A>TCA348080620RANBP2c.2603-3325A>T (n.2603-3325A>T)
c.2525-3325A>T (n.2525-3325A>T)
c.2703A>T
n.649A>T
c.468A>T
n.139A>T
c.7837A>T (p.Thr2613Ser)
c.7759A>T (p.Thr2587Ser)
c.4909A>T (p.Thr1637Ser)
c.7834A>T (p.Thr2612Ser)
c.7660A>T (p.Thr2554Ser)
c.5125A>T (p.Thr1709Ser)
c.4906A>T (p.Thr1636Ser)
2g.108768377C>ACA348080627RANBP2c.2603-3324C>A (n.2603-3324C>A)
c.2525-3324C>A (n.2525-3324C>A)
c.2704C>A
n.650C>A
c.469C>A
n.140C>A
c.7838C>A (p.Thr2613Lys)
c.7760C>A (p.Thr2587Lys)
c.4910C>A (p.Thr1637Lys)
c.7835C>A (p.Thr2612Lys)
c.7661C>A (p.Thr2554Lys)
c.5126C>A (p.Thr1709Lys)
c.4907C>A (p.Thr1636Lys)
2g.108768377C>GCA348080629RANBP2c.2603-3324C>G (n.2603-3324C>G)
c.2525-3324C>G (n.2525-3324C>G)
c.2704C>G
n.650C>G
c.469C>G
n.140C>G
c.7838C>G (p.Thr2613Arg)
c.7760C>G (p.Thr2587Arg)
c.4910C>G (p.Thr1637Arg)
c.7835C>G (p.Thr2612Arg)
c.7661C>G (p.Thr2554Arg)
c.5126C>G (p.Thr1709Arg)
c.4907C>G (p.Thr1636Arg)
2g.108768377C>TCA348080631RANBP2c.2603-3324C>T (n.2603-3324C>T)
c.2525-3324C>T (n.2525-3324C>T)
c.2704C>T
n.650C>T
c.469C>T
n.140C>T
c.7838C>T (p.Thr2613Ile)
c.7760C>T (p.Thr2587Ile)
c.4910C>T (p.Thr1637Ile)
c.7835C>T (p.Thr2612Ile)
c.7661C>T (p.Thr2554Ile)
c.5126C>T (p.Thr1709Ile)
c.4907C>T (p.Thr1636Ile)
 gnomAD v4
2g.108768378A>CCA428204096RANBP2c.2603-3323A>C (n.2603-3323A>C)
c.2525-3323A>C (n.2525-3323A>C)
c.2705A>C
n.651A>C
c.470A>C
n.141A>C
c.7839A>C (p.Thr2613=)
c.7761A>C (p.Thr2587=)
c.4911A>C (p.Thr1637=)
c.7836A>C (p.Thr2612=)
c.7662A>C (p.Thr2554=)
c.5127A>C (p.Thr1709=)
c.4908A>C (p.Thr1636=)
2g.108768378A>GCA428204097RANBP2c.2603-3323A>G (n.2603-3323A>G)
c.2525-3323A>G (n.2525-3323A>G)
c.2705A>G
n.651A>G
c.470A>G
n.141A>G
c.7839A>G (p.Thr2613=)
c.7761A>G (p.Thr2587=)
c.4911A>G (p.Thr1637=)
c.7836A>G (p.Thr2612=)
c.7662A>G (p.Thr2554=)
c.5127A>G (p.Thr1709=)
c.4908A>G (p.Thr1636=)
2g.108768378A>TCA428204098RANBP2c.2603-3323A>T (n.2603-3323A>T)
c.2525-3323A>T (n.2525-3323A>T)
c.2705A>T
n.651A>T
c.470A>T
n.141A>T
c.7839A>T (p.Thr2613=)
c.7761A>T (p.Thr2587=)
c.4911A>T (p.Thr1637=)
c.7836A>T (p.Thr2612=)
c.7662A>T (p.Thr2554=)
c.5127A>T (p.Thr1709=)
c.4908A>T (p.Thr1636=)
2g.108768379C>ACA348080635RANBP2c.2603-3322C>A (n.2603-3322C>A)
c.2525-3322C>A (n.2525-3322C>A)
c.2706C>A
n.652C>A
c.471C>A
n.142C>A
c.7840C>A (p.Pro2614Thr)
c.7762C>A (p.Pro2588Thr)
c.4912C>A (p.Pro1638Thr)
c.7837C>A (p.Pro2613Thr)
c.7663C>A (p.Pro2555Thr)
c.5128C>A (p.Pro1710Thr)
c.4909C>A (p.Pro1637Thr)
2g.108768379C>GCA348080636RANBP2c.2603-3322C>G (n.2603-3322C>G)
c.2525-3322C>G (n.2525-3322C>G)
c.2706C>G
n.652C>G
c.471C>G
n.142C>G
c.7840C>G (p.Pro2614Ala)
c.7762C>G (p.Pro2588Ala)
c.4912C>G (p.Pro1638Ala)
c.7837C>G (p.Pro2613Ala)
c.7663C>G (p.Pro2555Ala)
c.5128C>G (p.Pro1710Ala)
c.4909C>G (p.Pro1637Ala)
2g.108768379C>TCA348080639RANBP2c.2603-3322C>T (n.2603-3322C>T)
c.2525-3322C>T (n.2525-3322C>T)
c.2706C>T
n.652C>T
c.471C>T
n.142C>T
c.7840C>T (p.Pro2614Ser)
c.7762C>T (p.Pro2588Ser)
c.4912C>T (p.Pro1638Ser)
c.7837C>T (p.Pro2613Ser)
c.7663C>T (p.Pro2555Ser)
c.5128C>T (p.Pro1710Ser)
c.4909C>T (p.Pro1637Ser)
2g.108768380C>ACA348080644RANBP2c.2603-3321C>A (n.2603-3321C>A)
c.2525-3321C>A (n.2525-3321C>A)
c.2707C>A
n.653C>A
c.472C>A
n.143C>A
c.7841C>A (p.Pro2614Gln)
c.7763C>A (p.Pro2588Gln)
c.4913C>A (p.Pro1638Gln)
c.7838C>A (p.Pro2613Gln)
c.7664C>A (p.Pro2555Gln)
c.5129C>A (p.Pro1710Gln)
c.4910C>A (p.Pro1637Gln)
2g.108768380C=CA1278292663RANBP2c.2603-3321C= (n.2603-3321C=)
c.2525-3321C= (n.2525-3321C=)
c.2707C=
n.653C=
c.472C=
n.143C=
c.7841C= (p.Pro2614=)
c.7763C= (p.Pro2588=)
c.4913C= (p.Pro1638=)
c.7838C= (p.Pro2613=)
c.7664C= (p.Pro2555=)
c.5129C= (p.Pro1710=)
c.4910C= (p.Pro1637=)
2g.108768380C>GCA348080646RANBP2c.2603-3321C>G (n.2603-3321C>G)
c.2525-3321C>G (n.2525-3321C>G)
c.2707C>G
n.653C>G
c.472C>G
n.143C>G
c.7841C>G (p.Pro2614Arg)
c.7763C>G (p.Pro2588Arg)
c.4913C>G (p.Pro1638Arg)
c.7838C>G (p.Pro2613Arg)
c.7664C>G (p.Pro2555Arg)
c.5129C>G (p.Pro1710Arg)
c.4910C>G (p.Pro1637Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108768380C>TCA348080648RANBP2c.2603-3321C>T (n.2603-3321C>T)
c.2525-3321C>T (n.2525-3321C>T)
c.2707C>T
n.653C>T
c.472C>T
n.143C>T
c.7841C>T (p.Pro2614Leu)
c.7763C>T (p.Pro2588Leu)
c.4913C>T (p.Pro1638Leu)
c.7838C>T (p.Pro2613Leu)
c.7664C>T (p.Pro2555Leu)
c.5129C>T (p.Pro1710Leu)
c.4910C>T (p.Pro1637Leu)
 ClinVar dbSNP gnomAD v4
2g.108768381A>CCA428204100RANBP2c.2603-3320A>C (n.2603-3320A>C)
c.2525-3320A>C (n.2525-3320A>C)
c.2708A>C
n.654A>C
c.473A>C
n.144A>C
c.7842A>C (p.Pro2614=)
c.7764A>C (p.Pro2588=)
c.4914A>C (p.Pro1638=)
c.7839A>C (p.Pro2613=)
c.7665A>C (p.Pro2555=)
c.5130A>C (p.Pro1710=)
c.4911A>C (p.Pro1637=)
2g.108768381A>GCA428204101RANBP2c.2603-3320A>G (n.2603-3320A>G)
c.2525-3320A>G (n.2525-3320A>G)
c.2708A>G
n.654A>G
c.473A>G
n.144A>G
c.7842A>G (p.Pro2614=)
c.7764A>G (p.Pro2588=)
c.4914A>G (p.Pro1638=)
c.7839A>G (p.Pro2613=)
c.7665A>G (p.Pro2555=)
c.5130A>G (p.Pro1710=)
c.4911A>G (p.Pro1637=)
2g.108768381A>TCA428204102RANBP2c.2603-3320A>T (n.2603-3320A>T)
c.2525-3320A>T (n.2525-3320A>T)
c.2708A>T
n.654A>T
c.473A>T
n.144A>T
c.7842A>T (p.Pro2614=)
c.7764A>T (p.Pro2588=)
c.4914A>T (p.Pro1638=)
c.7839A>T (p.Pro2613=)
c.7665A>T (p.Pro2555=)
c.5130A>T (p.Pro1710=)
c.4911A>T (p.Pro1637=)
2g.108768382G>ACA348080653RANBP2c.2603-3319G>A (n.2603-3319G>A)
c.2525-3319G>A (n.2525-3319G>A)
c.2709G>A
n.655G>A
c.474G>A
n.145G>A
c.7843G>A (p.Glu2615Lys)
c.7765G>A (p.Glu2589Lys)
c.4915G>A (p.Glu1639Lys)
c.7840G>A (p.Glu2614Lys)
c.7666G>A (p.Glu2556Lys)
c.5131G>A (p.Glu1711Lys)
c.4912G>A (p.Glu1638Lys)
2g.108768382G>CCA348080655RANBP2c.2603-3319G>C (n.2603-3319G>C)
c.2525-3319G>C (n.2525-3319G>C)
c.2709G>C
n.655G>C
c.474G>C
n.145G>C
c.7843G>C (p.Glu2615Gln)
c.7765G>C (p.Glu2589Gln)
c.4915G>C (p.Glu1639Gln)
c.7840G>C (p.Glu2614Gln)
c.7666G>C (p.Glu2556Gln)
c.5131G>C (p.Glu1711Gln)
c.4912G>C (p.Glu1638Gln)
2g.108768382G>TCA348080657RANBP2c.2603-3319G>T (n.2603-3319G>T)
c.2525-3319G>T (n.2525-3319G>T)
c.2709G>T
n.655G>T
c.474G>T
n.145G>T
c.7843G>T (p.Glu2615Ter)
c.7765G>T (p.Glu2589Ter)
c.4915G>T (p.Glu1639Ter)
c.7840G>T (p.Glu2614Ter)
c.7666G>T (p.Glu2556Ter)
c.5131G>T (p.Glu1711Ter)
c.4912G>T (p.Glu1638Ter)
2g.108768383A=CA1278292665RANBP2c.2603-3318A= (n.2603-3318A=)
c.2525-3318A= (n.2525-3318A=)
c.2710A=
n.656A=
c.475A=
n.146A=
c.7844A= (p.Glu2615=)
c.7766A= (p.Glu2589=)
c.4916A= (p.Glu1639=)
c.7841A= (p.Glu2614=)
c.7667A= (p.Glu2556=)
c.5132A= (p.Glu1711=)
c.4913A= (p.Glu1638=)
2g.108768383A>CCA348080662RANBP2c.2603-3318A>C (n.2603-3318A>C)
c.2525-3318A>C (n.2525-3318A>C)
c.2710A>C
n.656A>C
c.475A>C
n.146A>C
c.7844A>C (p.Glu2615Ala)
c.7766A>C (p.Glu2589Ala)
c.4916A>C (p.Glu1639Ala)
c.7841A>C (p.Glu2614Ala)
c.7667A>C (p.Glu2556Ala)
c.5132A>C (p.Glu1711Ala)
c.4913A>C (p.Glu1638Ala)
2g.108768383A>GCA348080664RANBP2c.2603-3318A>G (n.2603-3318A>G)
c.2525-3318A>G (n.2525-3318A>G)
c.2710A>G
n.656A>G
c.475A>G
n.146A>G
c.7844A>G (p.Glu2615Gly)
c.7766A>G (p.Glu2589Gly)
c.4916A>G (p.Glu1639Gly)
c.7841A>G (p.Glu2614Gly)
c.7667A>G (p.Glu2556Gly)
c.5132A>G (p.Glu1711Gly)
c.4913A>G (p.Glu1638Gly)
 ClinVar dbSNP
2g.108768383A>TCA348080660RANBP2c.2603-3318A>T (n.2603-3318A>T)
c.2525-3318A>T (n.2525-3318A>T)
c.2710A>T
n.656A>T
c.475A>T
n.146A>T
c.7844A>T (p.Glu2615Val)
c.7766A>T (p.Glu2589Val)
c.4916A>T (p.Glu1639Val)
c.7841A>T (p.Glu2614Val)
c.7667A>T (p.Glu2556Val)
c.5132A>T (p.Glu1711Val)
c.4913A>T (p.Glu1638Val)
2g.108768384A=CA1278292667RANBP2c.2603-3317A= (n.2603-3317A=)
c.2525-3317A= (n.2525-3317A=)
c.2711A=
n.657A=
c.476A=
n.147A=
c.7845A= (p.Glu2615=)
c.7767A= (p.Glu2589=)
c.4917A= (p.Glu1639=)
c.7842A= (p.Glu2614=)
c.7668A= (p.Glu2556=)
c.5133A= (p.Glu1711=)
c.4914A= (p.Glu1638=)
2g.108768384A>CCA348080668RANBP2c.2603-3317A>C (n.2603-3317A>C)
c.2525-3317A>C (n.2525-3317A>C)
c.2711A>C
n.657A>C
c.476A>C
n.147A>C
c.7845A>C (p.Glu2615Asp)
c.7767A>C (p.Glu2589Asp)
c.4917A>C (p.Glu1639Asp)
c.7842A>C (p.Glu2614Asp)
c.7668A>C (p.Glu2556Asp)
c.5133A>C (p.Glu1711Asp)
c.4914A>C (p.Glu1638Asp)
2g.108768384A>GCA428204108RANBP2c.2603-3317A>G (n.2603-3317A>G)
c.2525-3317A>G (n.2525-3317A>G)
c.2711A>G
n.657A>G
c.476A>G
n.147A>G
c.7845A>G (p.Glu2615=)
c.7767A>G (p.Glu2589=)
c.4917A>G (p.Glu1639=)
c.7842A>G (p.Glu2614=)
c.7668A>G (p.Glu2556=)
c.5133A>G (p.Glu1711=)
c.4914A>G (p.Glu1638=)
 dbSNP gnomAD v3 gnomAD v4
2g.108768384A>TCA348080669RANBP2c.2603-3317A>T (n.2603-3317A>T)
c.2525-3317A>T (n.2525-3317A>T)
c.2711A>T
n.657A>T
c.476A>T
n.147A>T
c.7845A>T (p.Glu2615Asp)
c.7767A>T (p.Glu2589Asp)
c.4917A>T (p.Glu1639Asp)
c.7842A>T (p.Glu2614Asp)
c.7668A>T (p.Glu2556Asp)
c.5133A>T (p.Glu1711Asp)
c.4914A>T (p.Glu1638Asp)
2g.108768385A>CCA348080672RANBP2c.2603-3316A>C (n.2603-3316A>C)
c.2525-3316A>C (n.2525-3316A>C)
c.2712A>C
n.658A>C
c.477A>C
n.148A>C
c.7846A>C (p.Lys2616Gln)
c.7768A>C (p.Lys2590Gln)
c.4918A>C (p.Lys1640Gln)
c.7843A>C (p.Lys2615Gln)
c.7669A>C (p.Lys2557Gln)
c.5134A>C (p.Lys1712Gln)
c.4915A>C (p.Lys1639Gln)
2g.108768385A>GCA348080674RANBP2c.2603-3316A>G (n.2603-3316A>G)
c.2525-3316A>G (n.2525-3316A>G)
c.2712A>G
n.658A>G
c.477A>G
n.148A>G
c.7846A>G (p.Lys2616Glu)
c.7768A>G (p.Lys2590Glu)
c.4918A>G (p.Lys1640Glu)
c.7843A>G (p.Lys2615Glu)
c.7669A>G (p.Lys2557Glu)
c.5134A>G (p.Lys1712Glu)
c.4915A>G (p.Lys1639Glu)
2g.108768385A>TCA348080675RANBP2c.2603-3316A>T (n.2603-3316A>T)
c.2525-3316A>T (n.2525-3316A>T)
c.2712A>T
n.658A>T
c.477A>T
n.148A>T
c.7846A>T (p.Lys2616Ter)
c.7768A>T (p.Lys2590Ter)
c.4918A>T (p.Lys1640Ter)
c.7843A>T (p.Lys2615Ter)
c.7669A>T (p.Lys2557Ter)
c.5134A>T (p.Lys1712Ter)
c.4915A>T (p.Lys1639Ter)
2g.108768386A>CCA348080682RANBP2c.2603-3315A>C (n.2603-3315A>C)
c.2525-3315A>C (n.2525-3315A>C)
c.2713A>C
n.659A>C
c.478A>C
n.149A>C
c.7847A>C (p.Lys2616Thr)
c.7769A>C (p.Lys2590Thr)
c.4919A>C (p.Lys1640Thr)
c.7844A>C (p.Lys2615Thr)
c.7670A>C (p.Lys2557Thr)
c.5135A>C (p.Lys1712Thr)
c.4916A>C (p.Lys1639Thr)
2g.108768386A>GCA348080678RANBP2c.2603-3315A>G (n.2603-3315A>G)
c.2525-3315A>G (n.2525-3315A>G)
c.2713A>G
n.659A>G
c.478A>G
n.149A>G
c.7847A>G (p.Lys2616Arg)
c.7769A>G (p.Lys2590Arg)
c.4919A>G (p.Lys1640Arg)
c.7844A>G (p.Lys2615Arg)
c.7670A>G (p.Lys2557Arg)
c.5135A>G (p.Lys1712Arg)
c.4916A>G (p.Lys1639Arg)
2g.108768386A>TCA348080680RANBP2c.2603-3315A>T (n.2603-3315A>T)
c.2525-3315A>T (n.2525-3315A>T)
c.2713A>T
n.659A>T
c.478A>T
n.149A>T
c.7847A>T (p.Lys2616Met)
c.7769A>T (p.Lys2590Met)
c.4919A>T (p.Lys1640Met)
c.7844A>T (p.Lys2615Met)
c.7670A>T (p.Lys2557Met)
c.5135A>T (p.Lys1712Met)
c.4916A>T (p.Lys1639Met)
2g.108768387G>ACA428203282RANBP2c.2603-3314G>A (n.2603-3314G>A)
c.2525-3314G>A (n.2525-3314G>A)
c.2714G>A
n.660G>A
c.479G>A
n.150G>A
c.7848G>A (p.Lys2616=)
c.7770G>A (p.Lys2590=)
c.4920G>A (p.Lys1640=)
c.7845G>A (p.Lys2615=)
c.7671G>A (p.Lys2557=)
c.5136G>A (p.Lys1712=)
c.4917G>A (p.Lys1639=)
 dbSNP gnomAD v3 gnomAD v4
2g.108768387G>CCA1823667RANBP2c.2603-3314G>C (n.2603-3314G>C)
c.2525-3314G>C (n.2525-3314G>C)
c.2714G>C
n.660G>C
c.479G>C
n.150G>C
c.7848G>C (p.Lys2616Asn)
c.7770G>C (p.Lys2590Asn)
c.4920G>C (p.Lys1640Asn)
c.7845G>C (p.Lys2615Asn)
c.7671G>C (p.Lys2557Asn)
c.5136G>C (p.Lys1712Asn)
c.4917G>C (p.Lys1639Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768387G=CA1278292669RANBP2c.2603-3314G= (n.2603-3314G=)
c.2525-3314G= (n.2525-3314G=)
c.2714G=
n.660G=
c.479G=
n.150G=
c.7848G= (p.Lys2616=)
c.7770G= (p.Lys2590=)
c.4920G= (p.Lys1640=)
c.7845G= (p.Lys2615=)
c.7671G= (p.Lys2557=)
c.5136G= (p.Lys1712=)
c.4917G= (p.Lys1639=)
2g.108768387G>TCA348080685RANBP2c.2603-3314G>T (n.2603-3314G>T)
c.2525-3314G>T (n.2525-3314G>T)
c.2714G>T
n.660G>T
c.479G>T
n.150G>T
c.7848G>T (p.Lys2616Asn)
c.7770G>T (p.Lys2590Asn)
c.4920G>T (p.Lys1640Asn)
c.7845G>T (p.Lys2615Asn)
c.7671G>T (p.Lys2557Asn)
c.5136G>T (p.Lys1712Asn)
c.4917G>T (p.Lys1639Asn)
2g.108768388G>ACA348080688RANBP2c.2603-3313G>A (n.2603-3313G>A)
c.2525-3313G>A (n.2525-3313G>A)
c.2715G>A
n.661G>A
c.480G>A
n.151G>A
c.7849G>A (p.Ala2617Thr)
c.7849G>A (p.Gly2617Arg)
c.7771G>A (p.Gly2591Arg)
c.4921G>A (p.Gly1641Arg)
c.7846G>A (p.Gly2616Arg)
c.7672G>A (p.Gly2558Arg)
c.5137G>A (p.Gly1713Arg)
c.4918G>A (p.Gly1640Arg)
2g.108768388G>CCA53457853RANBP2c.2603-3313G>C (n.2603-3313G>C)
c.2525-3313G>C (n.2525-3313G>C)
c.2715G>C
n.661G>C
c.480G>C
n.151G>C
c.7849G>C (p.Ala2617Pro)
c.7849G>C (p.Gly2617Arg)
c.7771G>C (p.Gly2591Arg)
c.4921G>C (p.Gly1641Arg)
c.7846G>C (p.Gly2616Arg)
c.7672G>C (p.Gly2558Arg)
c.5137G>C (p.Gly1713Arg)
c.4918G>C (p.Gly1640Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108768388G=CA1278292672RANBP2c.2603-3313G= (n.2603-3313G=)
c.2525-3313G= (n.2525-3313G=)
c.2715G=
n.661G=
c.480G=
n.151G=
c.7849G= (p.Ala2617=)
c.7849G= (p.Gly2617=)
c.7771G= (p.Gly2591=)
c.4921G= (p.Gly1641=)
c.7846G= (p.Gly2616=)
c.7672G= (p.Gly2558=)
c.5137G= (p.Gly1713=)
c.4918G= (p.Gly1640=)
2g.108768388G>TCA348080691RANBP2c.2603-3313G>T (n.2603-3313G>T)
c.2525-3313G>T (n.2525-3313G>T)
c.2715G>T
n.661G>T
c.480G>T
n.151G>T
c.7849G>T (p.Ala2617Ser)
c.7849G>T (p.Gly2617Ter)
c.7771G>T (p.Gly2591Ter)
c.4921G>T (p.Gly1641Ter)
c.7846G>T (p.Gly2616Ter)
c.7672G>T (p.Gly2558Ter)
c.5137G>T (p.Gly1713Ter)
c.4918G>T (p.Gly1640Ter)
2g.108768389G>ACA348080699RANBP2c.2603-3312G>A (n.2603-3312G>A)
c.2525-3312G>A (n.2525-3312G>A)
c.2715+1G>A
n.662G>A
c.480+1G>A
n.152G>A
c.7849+1G>A (n.7849+1G>A)
c.7771+1G>A (n.7771+1G>A)
c.4921+1G>A (n.4921+1G>A)
c.7846+1G>A (n.7846+1G>A)
c.7672+1G>A (n.7672+1G>A)
c.5137+1G>A (n.5137+1G>A)
c.4918+1G>A (n.4918+1G>A)
2g.108768389G>CCA348080697RANBP2c.2603-3312G>C (n.2603-3312G>C)
c.2525-3312G>C (n.2525-3312G>C)
c.2715+1G>C
n.662G>C
c.480+1G>C
n.152G>C
c.7849+1G>C (n.7849+1G>C)
c.7771+1G>C (n.7771+1G>C)
c.4921+1G>C (n.4921+1G>C)
c.7846+1G>C (n.7846+1G>C)
c.7672+1G>C (n.7672+1G>C)
c.5137+1G>C (n.5137+1G>C)
c.4918+1G>C (n.4918+1G>C)
2g.108768389G=CA1278292674RANBP2c.2603-3312G= (n.2603-3312G=)
c.2525-3312G= (n.2525-3312G=)
c.2715+1G=
n.662G=
c.480+1G=
n.152G=
c.7849+1G= (n.7849+1G=)
c.7771+1G= (n.7771+1G=)
c.4921+1G= (n.4921+1G=)
c.7846+1G= (n.7846+1G=)
c.7672+1G= (n.7672+1G=)
c.5137+1G= (n.5137+1G=)
c.4918+1G= (n.4918+1G=)
2g.108768389G>TCA53457857RANBP2c.2603-3312G>T (n.2603-3312G>T)
c.2525-3312G>T (n.2525-3312G>T)
c.2715+1G>T
n.662G>T
c.480+1G>T
n.152G>T
c.7849+1G>T (n.7849+1G>T)
c.7771+1G>T (n.7771+1G>T)
c.4921+1G>T (n.4921+1G>T)
c.7846+1G>T (n.7846+1G>T)
c.7672+1G>T (n.7672+1G>T)
c.5137+1G>T (n.5137+1G>T)
c.4918+1G>T (n.4918+1G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108768390T>ACA348080702RANBP2c.2603-3311T>A (n.2603-3311T>A)
c.2525-3311T>A (n.2525-3311T>A)
c.2715+2T>A
n.663T>A
c.480+2T>A
n.153T>A
c.7849+2T>A (n.7849+2T>A)
c.7771+2T>A (n.7771+2T>A)
c.4921+2T>A (n.4921+2T>A)
c.7846+2T>A (n.7846+2T>A)
c.7672+2T>A (n.7672+2T>A)
c.5137+2T>A (n.5137+2T>A)
c.4918+2T>A (n.4918+2T>A)
2g.108768390T>CCA348080707RANBP2c.2603-3311T>C (n.2603-3311T>C)
c.2525-3311T>C (n.2525-3311T>C)
c.2715+2T>C
n.663T>C
c.480+2T>C
n.153T>C
c.7849+2T>C (n.7849+2T>C)
c.7771+2T>C (n.7771+2T>C)
c.4921+2T>C (n.4921+2T>C)
c.7846+2T>C (n.7846+2T>C)
c.7672+2T>C (n.7672+2T>C)
c.5137+2T>C (n.5137+2T>C)
c.4918+2T>C (n.4918+2T>C)
 gnomAD v3 gnomAD v4
2g.108768390T>GCA348080705RANBP2c.2603-3311T>G (n.2603-3311T>G)
c.2525-3311T>G (n.2525-3311T>G)
c.2715+2T>G
n.663T>G
c.480+2T>G
n.153T>G
c.7849+2T>G (n.7849+2T>G)
c.7771+2T>G (n.7771+2T>G)
c.4921+2T>G (n.4921+2T>G)
c.7846+2T>G (n.7846+2T>G)
c.7672+2T>G (n.7672+2T>G)
c.5137+2T>G (n.5137+2T>G)
c.4918+2T>G (n.4918+2T>G)
2g.108768392A=CA1278292678RANBP2c.2603-3309A= (n.2603-3309A=)
c.2525-3309A= (n.2525-3309A=)
c.2715+4A=
n.665A=
c.480+4A=
n.155A=
c.7849+4A= (n.7849+4A=)
c.7771+4A= (n.7771+4A=)
c.4921+4A= (n.4921+4A=)
c.7846+4A= (n.7846+4A=)
c.7672+4A= (n.7672+4A=)
c.5137+4A= (n.5137+4A=)
c.4918+4A= (n.4918+4A=)
2g.108768392A>CCA535593276RANBP2c.2603-3309A>C (n.2603-3309A>C)
c.2525-3309A>C (n.2525-3309A>C)
c.2715+4A>C
n.665A>C
c.480+4A>C
n.155A>C
c.7849+4A>C (n.7849+4A>C)
c.7771+4A>C (n.7771+4A>C)
c.4921+4A>C (n.4921+4A>C)
c.7846+4A>C (n.7846+4A>C)
c.7672+4A>C (n.7672+4A>C)
c.5137+4A>C (n.5137+4A>C)
c.4918+4A>C (n.4918+4A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108768392A>GCA1823668RANBP2c.2603-3309A>G (n.2603-3309A>G)
c.2525-3309A>G (n.2525-3309A>G)
c.2715+4A>G
n.665A>G
c.480+4A>G
n.155A>G
c.7849+4A>G (n.7849+4A>G)
c.7771+4A>G (n.7771+4A>G)
c.4921+4A>G (n.4921+4A>G)
c.7846+4A>G (n.7846+4A>G)
c.7672+4A>G (n.7672+4A>G)
c.5137+4A>G (n.5137+4A>G)
c.4918+4A>G (n.4918+4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108768393G>ACA1823669RANBP2c.2603-3308G>A (n.2603-3308G>A)
c.2525-3308G>A (n.2525-3308G>A)
c.2715+5G>A
n.666G>A
c.480+5G>A
n.156G>A
c.7849+5G>A (n.7849+5G>A)
c.7771+5G>A (n.7771+5G>A)
c.4921+5G>A (n.4921+5G>A)
c.7846+5G>A (n.7846+5G>A)
c.7672+5G>A (n.7672+5G>A)
c.5137+5G>A (n.5137+5G>A)
c.4918+5G>A (n.4918+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108768393G=CA1278292679RANBP2c.2603-3308G= (n.2603-3308G=)
c.2525-3308G= (n.2525-3308G=)
c.2715+5G=
n.666G=
c.480+5G=
n.156G=
c.7849+5G= (n.7849+5G=)
c.7771+5G= (n.7771+5G=)
c.4921+5G= (n.4921+5G=)
c.7846+5G= (n.7846+5G=)
c.7672+5G= (n.7672+5G=)
c.5137+5G= (n.5137+5G=)
c.4918+5G= (n.4918+5G=)

Number of alleles fetched