Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.53465439_53470922delCA2741808828RBL2c.1700_2703del
n.1839_4494del
n.1399_2402del
c.830_1833del
c.1478_2481del
c.1052_2055del
c.1700_2556del
 ClinVar
16g.53470740T>ACA2633231824RBL2c.2527-6T>A (n.2527-6T>A)
n.4318-6T>A
n.2226-6T>A
c.1657-6T>A (n.1657-6T>A)
c.2305-6T>A (n.2305-6T>A)
c.1879-6T>A (n.1879-6T>A)
c.2380-6T>A (n.2380-6T>A)
 gnomAD v4
16g.53470741C=CA2223143769RBL2c.2527-5C= (n.2527-5C=)
n.4318-5C=
n.2226-5C=
c.1657-5C= (n.1657-5C=)
c.2305-5C= (n.2305-5C=)
c.1879-5C= (n.1879-5C=)
c.2380-5C= (n.2380-5C=)
16g.53470741C>GCA622655029RBL2c.2527-5C>G (n.2527-5C>G)
n.4318-5C>G
n.2226-5C>G
c.1657-5C>G (n.1657-5C>G)
c.2305-5C>G (n.2305-5C>G)
c.1879-5C>G (n.1879-5C>G)
c.2380-5C>G (n.2380-5C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.53470741C>TCA622655030RBL2c.2527-5C>T (n.2527-5C>T)
n.4318-5C>T
n.2226-5C>T
c.1657-5C>T (n.1657-5C>T)
c.2305-5C>T (n.2305-5C>T)
c.1879-5C>T (n.1879-5C>T)
c.2380-5C>T (n.2380-5C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53470744A>CCA395913650RBL2c.2527-2A>C (n.2527-2A>C)
n.4318-2A>C
n.2226-2A>C
c.1657-2A>C (n.1657-2A>C)
c.2305-2A>C (n.2305-2A>C)
c.1879-2A>C (n.1879-2A>C)
c.2380-2A>C (n.2380-2A>C)
16g.53470744A>GCA395913648RBL2c.2527-2A>G (n.2527-2A>G)
n.4318-2A>G
n.2226-2A>G
c.1657-2A>G (n.1657-2A>G)
c.2305-2A>G (n.2305-2A>G)
c.1879-2A>G (n.1879-2A>G)
c.2380-2A>G (n.2380-2A>G)
16g.53470744A>TCA395913649RBL2c.2527-2A>T (n.2527-2A>T)
n.4318-2A>T
n.2226-2A>T
c.1657-2A>T (n.1657-2A>T)
c.2305-2A>T (n.2305-2A>T)
c.1879-2A>T (n.1879-2A>T)
c.2380-2A>T (n.2380-2A>T)
16g.53470745G>ACA395913651RBL2c.2527-1G>A (n.2527-1G>A)
n.4318-1G>A
n.2226-1G>A
c.1657-1G>A (n.1657-1G>A)
c.2305-1G>A (n.2305-1G>A)
c.1879-1G>A (n.1879-1G>A)
c.2380-1G>A (n.2380-1G>A)
16g.53470745G>CCA8056571RBL2c.2527-1G>C (n.2527-1G>C)
n.4318-1G>C
n.2226-1G>C
c.1657-1G>C (n.1657-1G>C)
c.2305-1G>C (n.2305-1G>C)
c.1879-1G>C (n.1879-1G>C)
c.2380-1G>C (n.2380-1G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53470745G=CA2223143789RBL2c.2527-1G= (n.2527-1G=)
n.4318-1G=
n.2226-1G=
c.1657-1G= (n.1657-1G=)
c.2305-1G= (n.2305-1G=)
c.1879-1G= (n.1879-1G=)
c.2380-1G= (n.2380-1G=)
16g.53470745G>TCA395913652RBL2c.2527-1G>T (n.2527-1G>T)
n.4318-1G>T
n.2226-1G>T
c.1657-1G>T (n.1657-1G>T)
c.2305-1G>T (n.2305-1G>T)
c.1879-1G>T (n.1879-1G>T)
c.2380-1G>T (n.2380-1G>T)
16g.53470746G>ACA8056572RBL2c.2527G>A (p.Val843Ile)
n.4318G>A
n.2226G>A
c.1657G>A (p.Val553Ile)
c.2305G>A (p.Val769Ile)
c.1879G>A (p.Val627Ile)
c.2380G>A (p.Val794Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53470746G>CCA395913653RBL2c.2527G>C (p.Val843Leu)
n.4318G>C
n.2226G>C
c.1657G>C (p.Val553Leu)
c.2305G>C (p.Val769Leu)
c.1879G>C (p.Val627Leu)
c.2380G>C (p.Val794Leu)
16g.53470746G=CA2223143799RBL2c.2527G= (p.Val843=)
n.4318G=
n.2226G=
c.1657G= (p.Val553=)
c.2305G= (p.Val769=)
c.1879G= (p.Val627=)
c.2380G= (p.Val794=)
16g.53470746G>TCA8056573RBL2c.2527G>T (p.Val843Leu)
n.4318G>T
n.2226G>T
c.1657G>T (p.Val553Leu)
c.2305G>T (p.Val769Leu)
c.1879G>T (p.Val627Leu)
c.2380G>T (p.Val794Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53470747T>ACA395913654RBL2c.2528T>A (p.Val843Glu)
n.4319T>A
n.2227T>A
c.1658T>A (p.Val553Glu)
c.2306T>A (p.Val769Glu)
c.1880T>A (p.Val627Glu)
c.2381T>A (p.Val794Glu)
16g.53470747T>CCA395913655RBL2c.2528T>C (p.Val843Ala)
n.4319T>C
n.2227T>C
c.1658T>C (p.Val553Ala)
c.2306T>C (p.Val769Ala)
c.1880T>C (p.Val627Ala)
c.2381T>C (p.Val794Ala)
 COSMIC
16g.53470747T>GCA395913656RBL2c.2528T>G (p.Val843Gly)
n.4319T>G
n.2227T>G
c.1658T>G (p.Val553Gly)
c.2306T>G (p.Val769Gly)
c.1880T>G (p.Val627Gly)
c.2381T>G (p.Val794Gly)
16g.53470748A=CA2223143802RBL2c.2529A= (p.Val843=)
n.4320A=
n.2228A=
c.1659A= (p.Val553=)
c.2307A= (p.Val769=)
c.1881A= (p.Val627=)
c.2382A= (p.Val794=)
16g.53470748A>CCA495783666RBL2c.2529A>C (p.Val843=)
n.4320A>C
n.2228A>C
c.1659A>C (p.Val553=)
c.2307A>C (p.Val769=)
c.1881A>C (p.Val627=)
c.2382A>C (p.Val794=)
16g.53470748A>GCA8056574RBL2c.2529A>G (p.Val843=)
n.4320A>G
n.2228A>G
c.1659A>G (p.Val553=)
c.2307A>G (p.Val769=)
c.1881A>G (p.Val627=)
c.2382A>G (p.Val794=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53470748A>TCA495783667RBL2c.2529A>T (p.Val843=)
n.4320A>T
n.2228A>T
c.1659A>T (p.Val553=)
c.2307A>T (p.Val769=)
c.1881A>T (p.Val627=)
c.2382A>T (p.Val794=)
16g.53470749T>ACA395913659RBL2c.2530T>A (p.Tyr844Asn)
n.4321T>A
n.2229T>A
c.1660T>A (p.Tyr554Asn)
c.2308T>A (p.Tyr770Asn)
c.1882T>A (p.Tyr628Asn)
c.2383T>A (p.Tyr795Asn)
16g.53470749T>CCA395913658RBL2c.2530T>C (p.Tyr844His)
n.4321T>C
n.2229T>C
c.1660T>C (p.Tyr554His)
c.2308T>C (p.Tyr770His)
c.1882T>C (p.Tyr628His)
c.2383T>C (p.Tyr795His)
 gnomAD v4
16g.53470749T>GCA395913657RBL2c.2530T>G (p.Tyr844Asp)
n.4321T>G
n.2229T>G
c.1660T>G (p.Tyr554Asp)
c.2308T>G (p.Tyr770Asp)
c.1882T>G (p.Tyr628Asp)
c.2383T>G (p.Tyr795Asp)
16g.53470750A>CCA395913660RBL2c.2531A>C (p.Tyr844Ser)
n.4322A>C
n.2230A>C
c.1661A>C (p.Tyr554Ser)
c.2309A>C (p.Tyr770Ser)
c.1883A>C (p.Tyr628Ser)
c.2384A>C (p.Tyr795Ser)
16g.53470750A>GCA395913661RBL2c.2531A>G (p.Tyr844Cys)
n.4322A>G
n.2230A>G
c.1661A>G (p.Tyr554Cys)
c.2309A>G (p.Tyr770Cys)
c.1883A>G (p.Tyr628Cys)
c.2384A>G (p.Tyr795Cys)
16g.53470750A>TCA395913662RBL2c.2531A>T (p.Tyr844Phe)
n.4322A>T
n.2230A>T
c.1661A>T (p.Tyr554Phe)
c.2309A>T (p.Tyr770Phe)
c.1883A>T (p.Tyr628Phe)
c.2384A>T (p.Tyr795Phe)
16g.53470751C>ACA395913663RBL2c.2532C>A (p.Tyr844Ter)
n.4323C>A
n.2231C>A
c.1662C>A (p.Tyr554Ter)
c.2310C>A (p.Tyr770Ter)
c.1884C>A (p.Tyr628Ter)
c.2385C>A (p.Tyr795Ter)
16g.53470751C>GCA395913664RBL2c.2532C>G (p.Tyr844Ter)
n.4323C>G
n.2231C>G
c.1662C>G (p.Tyr554Ter)
c.2310C>G (p.Tyr770Ter)
c.1884C>G (p.Tyr628Ter)
c.2385C>G (p.Tyr795Ter)
16g.53470751C>TCA495783669RBL2c.2532C>T (p.Tyr844=)
n.4323C>T
n.2231C>T
c.1662C>T (p.Tyr554=)
c.2310C>T (p.Tyr770=)
c.1884C>T (p.Tyr628=)
c.2385C>T (p.Tyr795=)
16g.53470752C>ACA395913665RBL2c.2533C>A (p.His845Asn)
n.4324C>A
n.2232C>A
c.1663C>A (p.His555Asn)
c.2311C>A (p.His771Asn)
c.1885C>A (p.His629Asn)
c.2386C>A (p.His796Asn)
 gnomAD v4
16g.53470752C>GCA395913666RBL2c.2533C>G (p.His845Asp)
n.4324C>G
n.2232C>G
c.1663C>G (p.His555Asp)
c.2311C>G (p.His771Asp)
c.1885C>G (p.His629Asp)
c.2386C>G (p.His796Asp)
16g.53470752C>TCA395913667RBL2c.2533C>T (p.His845Tyr)
n.4324C>T
n.2232C>T
c.1663C>T (p.His555Tyr)
c.2311C>T (p.His771Tyr)
c.1885C>T (p.His629Tyr)
c.2386C>T (p.His796Tyr)
16g.53470753A>CCA395913668RBL2c.2534A>C (p.His845Pro)
n.4325A>C
n.2233A>C
c.1664A>C (p.His555Pro)
c.2312A>C (p.His771Pro)
c.1886A>C (p.His629Pro)
c.2387A>C (p.His796Pro)
16g.53470753A>GCA395913669RBL2c.2534A>G (p.His845Arg)
n.4325A>G
n.2233A>G
c.1664A>G (p.His555Arg)
c.2312A>G (p.His771Arg)
c.1886A>G (p.His629Arg)
c.2387A>G (p.His796Arg)
 gnomAD v4
16g.53470753A>TCA395913670RBL2c.2534A>T (p.His845Leu)
n.4325A>T
n.2233A>T
c.1664A>T (p.His555Leu)
c.2312A>T (p.His771Leu)
c.1886A>T (p.His629Leu)
c.2387A>T (p.His796Leu)
16g.53470754T>ACA395913671RBL2c.2535T>A (p.His845Gln)
n.4326T>A
n.2234T>A
c.1665T>A (p.His555Gln)
c.2313T>A (p.His771Gln)
c.1887T>A (p.His629Gln)
c.2388T>A (p.His796Gln)
16g.53470754T>CCA495783670RBL2c.2535T>C (p.His845=)
n.4326T>C
n.2234T>C
c.1665T>C (p.His555=)
c.2313T>C (p.His771=)
c.1887T>C (p.His629=)
c.2388T>C (p.His796=)
16g.53470754T>GCA395913672RBL2c.2535T>G (p.His845Gln)
n.4326T>G
n.2234T>G
c.1665T>G (p.His555Gln)
c.2313T>G (p.His771Gln)
c.1887T>G (p.His629Gln)
c.2388T>G (p.His796Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.53470754T=CA2223143806RBL2c.2535T= (p.His845=)
n.4326T=
n.2234T=
c.1665T= (p.His555=)
c.2313T= (p.His771=)
c.1887T= (p.His629=)
c.2388T= (p.His796=)
16g.53470755T>ACA395913673RBL2c.2536T>A (p.Leu846Ile)
n.4327T>A
n.2235T>A
c.1666T>A (p.Leu556Ile)
c.2314T>A (p.Leu772Ile)
c.1888T>A (p.Leu630Ile)
c.2389T>A (p.Leu797Ile)
16g.53470755T>CCA495783672RBL2c.2536T>C (p.Leu846=)
n.4327T>C
n.2235T>C
c.1666T>C (p.Leu556=)
c.2314T>C (p.Leu772=)
c.1888T>C (p.Leu630=)
c.2389T>C (p.Leu797=)
16g.53470755T>GCA395913674RBL2c.2536T>G (p.Leu846Val)
n.4327T>G
n.2235T>G
c.1666T>G (p.Leu556Val)
c.2314T>G (p.Leu772Val)
c.1888T>G (p.Leu630Val)
c.2389T>G (p.Leu797Val)
16g.53470756T>ACA395913675RBL2c.2537T>A (p.Leu846Ter)
n.4328T>A
n.2236T>A
c.1667T>A (p.Leu556Ter)
c.2315T>A (p.Leu772Ter)
c.1889T>A (p.Leu630Ter)
c.2390T>A (p.Leu797Ter)
16g.53470756T>CCA395913676RBL2c.2537T>C (p.Leu846Ser)
n.4328T>C
n.2236T>C
c.1667T>C (p.Leu556Ser)
c.2315T>C (p.Leu772Ser)
c.1889T>C (p.Leu630Ser)
c.2390T>C (p.Leu797Ser)
16g.53470756T>GCA395913677RBL2c.2537T>G (p.Leu846Ter)
n.4328T>G
n.2236T>G
c.1667T>G (p.Leu556Ter)
c.2315T>G (p.Leu772Ter)
c.1889T>G (p.Leu630Ter)
c.2390T>G (p.Leu797Ter)
16g.53470757A>CCA395913678RBL2c.2538A>C (p.Leu846Phe)
n.4329A>C
n.2237A>C
c.1668A>C (p.Leu556Phe)
c.2316A>C (p.Leu772Phe)
c.1890A>C (p.Leu630Phe)
c.2391A>C (p.Leu797Phe)
16g.53470757A>GCA495783675RBL2c.2538A>G (p.Leu846=)
n.4329A>G
n.2237A>G
c.1668A>G (p.Leu556=)
c.2316A>G (p.Leu772=)
c.1890A>G (p.Leu630=)
c.2391A>G (p.Leu797=)

Number of alleles fetched