Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110812632G>ACA471507248RBM20c.2235G>A (p.Leu745=)
c.1851G>A (p.Leu617=)
c.2070G>A (p.Leu690=)
10g.110812632G>CCA471507249RBM20c.2235G>C (p.Leu745=)
c.1851G>C (p.Leu617=)
c.2070G>C (p.Leu690=)
10g.110812632G>TCA471507250RBM20c.2235G>T (p.Leu745=)
c.1851G>T (p.Leu617=)
c.2070G>T (p.Leu690=)
10g.110812633C>ACA378372895RBM20c.2236C>A (p.Pro746Thr)
c.1852C>A (p.Pro618Thr)
c.2071C>A (p.Pro691Thr)
10g.110812633C>GCA378372889RBM20c.2236C>G (p.Pro746Ala)
c.1852C>G (p.Pro618Ala)
c.2071C>G (p.Pro691Ala)
10g.110812633C>TCA378372892RBM20c.2236C>T (p.Pro746Ser)
c.1852C>T (p.Pro618Ser)
c.2071C>T (p.Pro691Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.110812636delCA2843444647RBM20c.2239del (p.His747ThrfsTer26)
c.1855del (p.His619ThrfsTer26)
c.2074del (p.His692ThrfsTer26)
10g.110812634C>ACA378372900RBM20c.2237C>A (p.Pro746His)
c.1853C>A (p.Pro618His)
c.2072C>A (p.Pro691His)
10g.110812634C>GCA378372905RBM20c.2237C>G (p.Pro746Arg)
c.1853C>G (p.Pro618Arg)
c.2072C>G (p.Pro691Arg)
10g.110812634C>TCA378372907RBM20c.2237C>T (p.Pro746Leu)
c.1853C>T (p.Pro618Leu)
c.2072C>T (p.Pro691Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812635C>ACA471507256RBM20c.2238C>A (p.Pro746=)
c.1854C>A (p.Pro618=)
c.2073C>A (p.Pro691=)
10g.110812635C>GCA471507257RBM20c.2238C>G (p.Pro746=)
c.1854C>G (p.Pro618=)
c.2073C>G (p.Pro691=)
10g.110812635C>TCA471507258RBM20c.2238C>T (p.Pro746=)
c.1854C>T (p.Pro618=)
c.2073C>T (p.Pro691=)
 gnomAD v4
10g.110812636C>ACA378372920RBM20c.2239C>A (p.His747Asn)
c.1855C>A (p.His619Asn)
c.2074C>A (p.His692Asn)
10g.110812636C>GCA378372928RBM20c.2239C>G (p.His747Asp)
c.1855C>G (p.His619Asp)
c.2074C>G (p.His692Asp)
 ClinVar dbSNP
10g.110812636C>TCA5688675RBM20c.2239C>T (p.His747Tyr)
c.1855C>T (p.His619Tyr)
c.2074C>T (p.His692Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812637A>CCA378372932RBM20c.2240A>C (p.His747Pro)
c.1856A>C (p.His619Pro)
c.2075A>C (p.His692Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.110812637A>GCA378372934RBM20c.2240A>G (p.His747Arg)
c.1856A>G (p.His619Arg)
c.2075A>G (p.His692Arg)
 dbSNP gnomAD v3
10g.110812637A>TCA378372938RBM20c.2240A>T (p.His747Leu)
c.1856A>T (p.His619Leu)
c.2075A>T (p.His692Leu)
10g.110812638C>ACA378372942RBM20c.2241C>A (p.His747Gln)
c.1857C>A (p.His619Gln)
c.2076C>A (p.His692Gln)
10g.110812638C>GCA378372944RBM20c.2241C>G (p.His747Gln)
c.1857C>G (p.His619Gln)
c.2076C>G (p.His692Gln)
10g.110812638C>TCA471507264RBM20c.2241C>T (p.His747=)
c.1857C>T (p.His619=)
c.2076C>T (p.His692=)
 ClinVar dbSNP gnomAD v4
10g.110812639T>ACA378372950RBM20c.2242T>A (p.Ser748Thr)
c.1858T>A (p.Ser620Thr)
c.2077T>A (p.Ser693Thr)
10g.110812639T>CCA378372953RBM20c.2242T>C (p.Ser748Pro)
c.1858T>C (p.Ser620Pro)
c.2077T>C (p.Ser693Pro)
 ClinVar dbSNP
10g.110812639T>GCA378372949RBM20c.2242T>G (p.Ser748Ala)
c.1858T>G (p.Ser620Ala)
c.2077T>G (p.Ser693Ala)
10g.110812640C>ACA378372956RBM20c.2243C>A (p.Ser748Tyr)
c.1859C>A (p.Ser620Tyr)
c.2078C>A (p.Ser693Tyr)
 gnomAD v4
10g.110812640C>GCA378372959RBM20c.2243C>G (p.Ser748Cys)
c.1859C>G (p.Ser620Cys)
c.2078C>G (p.Ser693Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.110812640C>TCA378372961RBM20c.2243C>T (p.Ser748Phe)
c.1859C>T (p.Ser620Phe)
c.2078C>T (p.Ser693Phe)
 gnomAD v4
10g.110812641T>ACA471507268RBM20c.2244T>A (p.Ser748=)
c.1860T>A (p.Ser620=)
c.2079T>A (p.Ser693=)
10g.110812641T>CCA471507270RBM20c.2244T>C (p.Ser748=)
c.1860T>C (p.Ser620=)
c.2079T>C (p.Ser693=)
 gnomAD v4
10g.110812641T>GCA177698RBM20c.2244T>G (p.Ser748=)
c.1860T>G (p.Ser620=)
c.2079T>G (p.Ser693=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812644_110812645delCA596112275RBM20c.2247_2248del (p.Ser750GlnfsTer6)
c.1863_1864del (p.Ser622GlnfsTer6)
c.2082_2083del (p.Ser695GlnfsTer6)
 dbSNP gnomAD v2 gnomAD v4
10g.110812642G>ACA378372968RBM20c.2245G>A (p.Val749Met)
c.1861G>A (p.Val621Met)
c.2080G>A (p.Val694Met)
10g.110812642G>CCA378372970RBM20c.2245G>C (p.Val749Leu)
c.1861G>C (p.Val621Leu)
c.2080G>C (p.Val694Leu)
10g.110812642G>TCA213224053RBM20c.2245G>T (p.Val749Leu)
c.1861G>T (p.Val621Leu)
c.2080G>T (p.Val694Leu)
 dbSNP
10g.110812642dupCA2843444648RBM20c.2245dup (p.Val749GlyfsTer8)
c.1861dup (p.Val621GlyfsTer8)
c.2080dup (p.Val694GlyfsTer8)
10g.110812643delCA2610892821RBM20c.2246del (p.Val749GlyfsTer24)
c.1862del (p.Val621GlyfsTer24)
c.2081del (p.Val694GlyfsTer24)
 gnomAD v4
10g.110812643T>ACA378372975RBM20c.2246T>A (p.Val749Glu)
c.1862T>A (p.Val621Glu)
c.2081T>A (p.Val694Glu)
10g.110812643T>CCA378372976RBM20c.2246T>C (p.Val749Ala)
c.1862T>C (p.Val621Ala)
c.2081T>C (p.Val694Ala)
10g.110812643T>GCA378372977RBM20c.2246T>G (p.Val749Gly)
c.1862T>G (p.Val621Gly)
c.2081T>G (p.Val694Gly)
10g.110812644G>ACA471507275RBM20c.2247G>A (p.Val749=)
c.1863G>A (p.Val621=)
c.2082G>A (p.Val694=)
 gnomAD v4
10g.110812644G>CCA471507277RBM20c.2247G>C (p.Val749=)
c.1863G>C (p.Val621=)
c.2082G>C (p.Val694=)
10g.110812644G>TCA471507274RBM20c.2247G>T (p.Val749=)
c.1863G>T (p.Val621=)
c.2082G>T (p.Val694=)
10g.110812645T>ACA378372978RBM20c.2248T>A (p.Ser750Thr)
c.1864T>A (p.Ser622Thr)
c.2083T>A (p.Ser695Thr)
10g.110812645T>CCA378372979RBM20c.2248T>C (p.Ser750Pro)
c.1864T>C (p.Ser622Pro)
c.2083T>C (p.Ser695Pro)
 gnomAD v4
10g.110812645T>GCA378372981RBM20c.2248T>G (p.Ser750Ala)
c.1864T>G (p.Ser622Ala)
c.2083T>G (p.Ser695Ala)
10g.110812646C>ACA378372988RBM20c.2249C>A (p.Ser750Tyr)
c.1865C>A (p.Ser622Tyr)
c.2084C>A (p.Ser695Tyr)
10g.110812646C>GCA378372987RBM20c.2249C>G (p.Ser750Cys)
c.1865C>G (p.Ser622Cys)
c.2084C>G (p.Ser695Cys)
 dbSNP
10g.110812646C>TCA378372983RBM20c.2249C>T (p.Ser750Phe)
c.1865C>T (p.Ser622Phe)
c.2084C>T (p.Ser695Phe)
10g.110812647C>ACA471507282RBM20c.2250C>A (p.Ser750=)
c.1866C>A (p.Ser622=)
c.2085C>A (p.Ser695=)
10g.110812647C>GCA471507284RBM20c.2250C>G (p.Ser750=)
c.1866C>G (p.Ser622=)
c.2085C>G (p.Ser695=)
10g.110812647C>TCA471507285RBM20c.2250C>T (p.Ser750=)
c.1866C>T (p.Ser622=)
c.2085C>T (p.Ser695=)
 gnomAD v4
10g.110812648A>CCA378372991RBM20c.2251A>C (p.Ser751Arg)
c.1867A>C (p.Ser623Arg)
c.2086A>C (p.Ser696Arg)
10g.110812648A>GCA378372995RBM20c.2251A>G (p.Ser751Gly)
c.1867A>G (p.Ser623Gly)
c.2086A>G (p.Ser696Gly)
 dbSNP
10g.110812648A>TCA378372997RBM20c.2251A>T (p.Ser751Cys)
c.1867A>T (p.Ser623Cys)
c.2086A>T (p.Ser696Cys)
10g.110812649G>ACA378373005RBM20c.2252G>A (p.Ser751Asn)
c.1868G>A (p.Ser623Asn)
c.2087G>A (p.Ser696Asn)
10g.110812649G>CCA378373007RBM20c.2252G>C (p.Ser751Thr)
c.1868G>C (p.Ser623Thr)
c.2087G>C (p.Ser696Thr)
10g.110812649G>TCA378373010RBM20c.2252G>T (p.Ser751Ile)
c.1868G>T (p.Ser623Ile)
c.2087G>T (p.Ser696Ile)
10g.110812650C>ACA378373014RBM20c.2253C>A (p.Ser751Arg)
c.1869C>A (p.Ser623Arg)
c.2088C>A (p.Ser696Arg)
10g.110812650C>GCA378373022RBM20c.2253C>G (p.Ser751Arg)
c.1869C>G (p.Ser623Arg)
c.2088C>G (p.Ser696Arg)
10g.110812650C>TCA471507287RBM20c.2253C>T (p.Ser751=)
c.1869C>T (p.Ser623=)
c.2088C>T (p.Ser696=)
 dbSNP
10g.110812651T>ACA378373027RBM20c.2254T>A (p.Tyr752Asn)
c.1870T>A (p.Tyr624Asn)
c.2089T>A (p.Tyr697Asn)
10g.110812651T>CCA378373031RBM20c.2254T>C (p.Tyr752His)
c.1870T>C (p.Tyr624His)
c.2089T>C (p.Tyr697His)
 gnomAD v4
10g.110812651T>GCA378373033RBM20c.2254T>G (p.Tyr752Asp)
c.1870T>G (p.Tyr624Asp)
c.2089T>G (p.Tyr697Asp)
10g.110812652A>CCA378373037RBM20c.2255A>C (p.Tyr752Ser)
c.1871A>C (p.Tyr624Ser)
c.2090A>C (p.Tyr697Ser)
10g.110812652A>GCA378373041RBM20c.2255A>G (p.Tyr752Cys)
c.1871A>G (p.Tyr624Cys)
c.2090A>G (p.Tyr697Cys)
 ClinVar
10g.110812652A>TCA378373044RBM20c.2255A>T (p.Tyr752Phe)
c.1871A>T (p.Tyr624Phe)
c.2090A>T (p.Tyr697Phe)
10g.110812653C>ACA213224058RBM20c.2256C>A (p.Tyr752Ter)
c.1872C>A (p.Tyr624Ter)
c.2091C>A (p.Tyr697Ter)
 dbSNP
10g.110812653C>GCA378373047RBM20c.2256C>G (p.Tyr752Ter)
c.1872C>G (p.Tyr624Ter)
c.2091C>G (p.Tyr697Ter)
10g.110812653C>TCA471507295RBM20c.2256C>T (p.Tyr752=)
c.1872C>T (p.Tyr624=)
c.2091C>T (p.Tyr697=)
10g.110812654A>CCA378373060RBM20c.2257A>C (p.Lys753Gln)
c.1873A>C (p.Lys625Gln)
c.2092A>C (p.Lys698Gln)
10g.110812654A>GCA378373062RBM20c.2257A>G (p.Lys753Glu)
c.1873A>G (p.Lys625Glu)
c.2092A>G (p.Lys698Glu)
10g.110812654A>TCA378373065RBM20c.2257A>T (p.Lys753Ter)
c.1873A>T (p.Lys625Ter)
c.2092A>T (p.Lys698Ter)
10g.110812655A>CCA378373067RBM20c.2258A>C (p.Lys753Thr)
c.1874A>C (p.Lys625Thr)
c.2093A>C (p.Lys698Thr)
10g.110812655A>GCA378373070RBM20c.2258A>G (p.Lys753Arg)
c.1874A>G (p.Lys625Arg)
c.2093A>G (p.Lys698Arg)
10g.110812655A>TCA378373072RBM20c.2258A>T (p.Lys753Ile)
c.1874A>T (p.Lys625Ile)
c.2093A>T (p.Lys698Ile)
10g.110812656A>CCA378373075RBM20c.2259A>C (p.Lys753Asn)
c.1875A>C (p.Lys625Asn)
c.2094A>C (p.Lys698Asn)
10g.110812656A>GCA471507303RBM20c.2259A>G (p.Lys753=)
c.1875A>G (p.Lys625=)
c.2094A>G (p.Lys698=)
10g.110812656A>TCA378373077RBM20c.2259A>T (p.Lys753Asn)
c.1875A>T (p.Lys625Asn)
c.2094A>T (p.Lys698Asn)
 dbSNP gnomAD v4
10g.110812657A>CCA378373092RBM20c.2260A>C (p.Ser754Arg)
c.1876A>C (p.Ser626Arg)
c.2095A>C (p.Ser699Arg)
10g.110812657A>GCA378373094RBM20c.2260A>G (p.Ser754Gly)
c.1876A>G (p.Ser626Gly)
c.2095A>G (p.Ser699Gly)
10g.110812657A>TCA378373095RBM20c.2260A>T (p.Ser754Cys)
c.1876A>T (p.Ser626Cys)
c.2095A>T (p.Ser699Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.110812658G>ACA378373098RBM20c.2261G>A (p.Ser754Asn)
c.1877G>A (p.Ser626Asn)
c.2096G>A (p.Ser699Asn)
 gnomAD v4
10g.110812658G>CCA378373100RBM20c.2261G>C (p.Ser754Thr)
c.1877G>C (p.Ser626Thr)
c.2096G>C (p.Ser699Thr)
10g.110812658G>TCA378373101RBM20c.2261G>T (p.Ser754Ile)
c.1877G>T (p.Ser626Ile)
c.2096G>T (p.Ser699Ile)
10g.110812659C>ACA378373105RBM20c.2262C>A (p.Ser754Arg)
c.1878C>A (p.Ser626Arg)
c.2097C>A (p.Ser699Arg)
10g.110812659C>GCA378373103RBM20c.2262C>G (p.Ser754Arg)
c.1878C>G (p.Ser626Arg)
c.2097C>G (p.Ser699Arg)
10g.110812659C>TCA471507310RBM20c.2262C>T (p.Ser754=)
c.1878C>T (p.Ser626=)
c.2097C>T (p.Ser699=)
10g.110812660C>ACA378373107RBM20c.2263C>A (p.Arg755Ser)
c.1879C>A (p.Arg627Ser)
c.2098C>A (p.Arg700Ser)
10g.110812660C>GCA378373108RBM20c.2263C>G (p.Arg755Gly)
c.1879C>G (p.Arg627Gly)
c.2098C>G (p.Arg700Gly)
 ClinVar
10g.110812660C>TCA5688676RBM20c.2263C>T (p.Arg755Cys)
c.1879C>T (p.Arg627Cys)
c.2098C>T (p.Arg700Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812661G>ACA213224085RBM20c.2264G>A (p.Arg755His)
c.1880G>A (p.Arg627His)
c.2099G>A (p.Arg700His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812661G>CCA378373113RBM20c.2264G>C (p.Arg755Pro)
c.1880G>C (p.Arg627Pro)
c.2099G>C (p.Arg700Pro)
10g.110812661G>TCA378373115RBM20c.2264G>T (p.Arg755Leu)
c.1880G>T (p.Arg627Leu)
c.2099G>T (p.Arg700Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812662T>ACA471507318RBM20c.2265T>A (p.Arg755=)
c.1881T>A (p.Arg627=)
c.2100T>A (p.Arg700=)
10g.110812662T>CCA471507319RBM20c.2265T>C (p.Arg755=)
c.1881T>C (p.Arg627=)
c.2100T>C (p.Arg700=)
10g.110812662T>GCA471507320RBM20c.2265T>G (p.Arg755=)
c.1881T>G (p.Arg627=)
c.2100T>G (p.Arg700=)
 gnomAD v4
10g.110812663G>ACA378373120RBM20c.2266G>A (p.Glu756Lys)
c.1882G>A (p.Glu628Lys)
c.2101G>A (p.Glu701Lys)
10g.110812663G>CCA378373117RBM20c.2266G>C (p.Glu756Gln)
c.1882G>C (p.Glu628Gln)
c.2101G>C (p.Glu701Gln)
 dbSNP
10g.110812663G>TCA378373118RBM20c.2266G>T (p.Glu756Ter)
c.1882G>T (p.Glu628Ter)
c.2101G>T (p.Glu701Ter)
10g.110812663dupCA2838330730RBM20c.2266dup (p.Glu756GlyfsTer?)
c.1882dup (p.Glu628GlyfsTer?)
c.2101dup (p.Glu701GlyfsTer?)
10g.110812664A>CCA378373123RBM20c.2267A>C (p.Glu756Ala)
c.1883A>C (p.Glu628Ala)
c.2102A>C (p.Glu701Ala)
10g.110812664A>GCA378373124RBM20c.2267A>G (p.Glu756Gly)
c.1883A>G (p.Glu628Gly)
c.2102A>G (p.Glu701Gly)
 gnomAD v4
10g.110812664A>TCA378373126RBM20c.2267A>T (p.Glu756Val)
c.1883A>T (p.Glu628Val)
c.2102A>T (p.Glu701Val)
10g.110812665A>CCA378373128RBM20c.2268A>C (p.Glu756Asp)
c.1884A>C (p.Glu628Asp)
c.2103A>C (p.Glu701Asp)
10g.110812665A>GCA471507327RBM20c.2268A>G (p.Glu756=)
c.1884A>G (p.Glu628=)
c.2103A>G (p.Glu701=)
10g.110812665A>TCA378373130RBM20c.2268A>T (p.Glu756Asp)
c.1884A>T (p.Glu628Asp)
c.2103A>T (p.Glu701Asp)
10g.110812666G>ACA378373134RBM20c.2269G>A (p.Asp757Asn)
c.1885G>A (p.Asp629Asn)
c.2104G>A (p.Asp702Asn)
10g.110812666G>CCA378373131RBM20c.2269G>C (p.Asp757His)
c.1885G>C (p.Asp629His)
c.2104G>C (p.Asp702His)
10g.110812666G>TCA378373132RBM20c.2269G>T (p.Asp757Tyr)
c.1885G>T (p.Asp629Tyr)
c.2104G>T (p.Asp702Tyr)
10g.110812667A>CCA378373136RBM20c.2270A>C (p.Asp757Ala)
c.1886A>C (p.Asp629Ala)
c.2105A>C (p.Asp702Ala)
10g.110812667A>GCA378373137RBM20c.2270A>G (p.Asp757Gly)
c.1886A>G (p.Asp629Gly)
c.2105A>G (p.Asp702Gly)
10g.110812667A>TCA378373139RBM20c.2270A>T (p.Asp757Val)
c.1886A>T (p.Asp629Val)
c.2105A>T (p.Asp702Val)
10g.110812668C>ACA378373141RBM20c.2271C>A (p.Asp757Glu)
c.1887C>A (p.Asp629Glu)
c.2106C>A (p.Asp702Glu)
10g.110812668C>GCA378373143RBM20c.2271C>G (p.Asp757Glu)
c.1887C>G (p.Asp629Glu)
c.2106C>G (p.Asp702Glu)
10g.110812668C>TCA471507335RBM20c.2271C>T (p.Asp757=)
c.1887C>T (p.Asp629=)
c.2106C>T (p.Asp702=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812669G>ACA378373148RBM20c.2272G>A (p.Gly758Ser)
c.1888G>A (p.Gly630Ser)
c.2107G>A (p.Gly703Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812669G>CCA378373146RBM20c.2272G>C (p.Gly758Arg)
c.1888G>C (p.Gly630Arg)
c.2107G>C (p.Gly703Arg)
 gnomAD v4
10g.110812669G>TCA378373144RBM20c.2272G>T (p.Gly758Cys)
c.1888G>T (p.Gly630Cys)
c.2107G>T (p.Gly703Cys)
 gnomAD v4
10g.110812670G>ACA378373149RBM20c.2273G>A (p.Gly758Asp)
c.1889G>A (p.Gly630Asp)
c.2108G>A (p.Gly703Asp)
10g.110812670G>CCA378373151RBM20c.2273G>C (p.Gly758Ala)
c.1889G>C (p.Gly630Ala)
c.2108G>C (p.Gly703Ala)
 gnomAD v4
10g.110812670G>TCA378373152RBM20c.2273G>T (p.Gly758Val)
c.1889G>T (p.Gly630Val)
c.2108G>T (p.Gly703Val)
10g.110812671C>ACA471507336RBM20c.2274C>A (p.Gly758=)
c.1890C>A (p.Gly630=)
c.2109C>A (p.Gly703=)
10g.110812671C>GCA471507337RBM20c.2274C>G (p.Gly758=)
c.1890C>G (p.Gly630=)
c.2109C>G (p.Gly703=)
10g.110812671C>TCA471507338RBM20c.2274C>T (p.Gly758=)
c.1890C>T (p.Gly630=)
c.2109C>T (p.Gly703=)
10g.110812672T>ACA378373154RBM20c.2275T>A (p.Tyr759Asn)
c.1891T>A (p.Tyr631Asn)
c.2110T>A (p.Tyr704Asn)
10g.110812672T>CCA378373156RBM20c.2275T>C (p.Tyr759His)
c.1891T>C (p.Tyr631His)
c.2110T>C (p.Tyr704His)
 dbSNP
10g.110812672T>GCA378373158RBM20c.2275T>G (p.Tyr759Asp)
c.1891T>G (p.Tyr631Asp)
c.2110T>G (p.Tyr704Asp)
10g.110812673A>CCA378373164RBM20c.2276A>C (p.Tyr759Ser)
c.1892A>C (p.Tyr631Ser)
c.2111A>C (p.Tyr704Ser)
10g.110812673A>GCA378373161RBM20c.2276A>G (p.Tyr759Cys)
c.1892A>G (p.Tyr631Cys)
c.2111A>G (p.Tyr704Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812673A>TCA378373162RBM20c.2276A>T (p.Tyr759Phe)
c.1892A>T (p.Tyr631Phe)
c.2111A>T (p.Tyr704Phe)
10g.110812674C>ACA378373165RBM20c.2277C>A (p.Tyr759Ter)
c.1893C>A (p.Tyr631Ter)
c.2112C>A (p.Tyr704Ter)
10g.110812674C>GCA378373166RBM20c.2277C>G (p.Tyr759Ter)
c.1893C>G (p.Tyr631Ter)
c.2112C>G (p.Tyr704Ter)
10g.110812674C>TCA471507342RBM20c.2277C>T (p.Tyr759=)
c.1893C>T (p.Tyr631=)
c.2112C>T (p.Tyr704=)
10g.110812675T>ACA378373168RBM20c.2278T>A (p.Tyr760Asn)
c.1894T>A (p.Tyr632Asn)
c.2113T>A (p.Tyr705Asn)
 dbSNP gnomAD v4
10g.110812675T>CCA378373170RBM20c.2278T>C (p.Tyr760His)
c.1894T>C (p.Tyr632His)
c.2113T>C (p.Tyr705His)
10g.110812675T>GCA378373171RBM20c.2278T>G (p.Tyr760Asp)
c.1894T>G (p.Tyr632Asp)
c.2113T>G (p.Tyr705Asp)
10g.110812676A>CCA378373176RBM20c.2279A>C (p.Tyr760Ser)
c.1895A>C (p.Tyr632Ser)
c.2114A>C (p.Tyr705Ser)
10g.110812676A>GCA378373177RBM20c.2279A>G (p.Tyr760Cys)
c.1895A>G (p.Tyr632Cys)
c.2114A>G (p.Tyr705Cys)
10g.110812676A>TCA378373178RBM20c.2279A>T (p.Tyr760Phe)
c.1895A>T (p.Tyr632Phe)
c.2114A>T (p.Tyr705Phe)
10g.110812677C>ACA378373179RBM20c.2280C>A (p.Tyr760Ter)
c.1896C>A (p.Tyr632Ter)
c.2115C>A (p.Tyr705Ter)
10g.110812677C>GCA378373180RBM20c.2280C>G (p.Tyr760Ter)
c.1896C>G (p.Tyr632Ter)
c.2115C>G (p.Tyr705Ter)
10g.110812677C>TCA471507348RBM20c.2280C>T (p.Tyr760=)
c.1896C>T (p.Tyr632=)
c.2115C>T (p.Tyr705=)
10g.110812677_110812679dupCA2497307631RBM20c.2280_2282dup (p.Arg761_Lys762insArg)
c.1896_1898dup (p.Arg633_Lys634insArg)
c.2115_2117dup (p.Arg706_Lys707insArg)
 ClinVar dbSNP
10g.110812678C>ACA471507349RBM20c.2281C>A (p.Arg761=)
c.1897C>A (p.Arg633=)
c.2116C>A (p.Arg706=)
 dbSNP gnomAD v2 gnomAD v4
10g.110812678C>GCA378373182RBM20c.2281C>G (p.Arg761Gly)
c.1897C>G (p.Arg633Gly)
c.2116C>G (p.Arg706Gly)
10g.110812678C>TCA5688677RBM20c.2281C>T (p.Arg761Trp)
c.1897C>T (p.Arg633Trp)
c.2116C>T (p.Arg706Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812679G>ACA5688678RBM20c.2282G>A (p.Arg761Gln)
c.1898G>A (p.Arg633Gln)
c.2117G>A (p.Arg706Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812679G>CCA378373188RBM20c.2282G>C (p.Arg761Pro)
c.1898G>C (p.Arg633Pro)
c.2117G>C (p.Arg706Pro)
10g.110812679G=CA2838164891RBM20c.2282G= (p.Arg761=)
c.1898G= (p.Arg633=)
c.2117G= (p.Arg706=)
10g.110812679G>TCA378373186RBM20c.2282G>T (p.Arg761Leu)
c.1898G>T (p.Arg633Leu)
c.2117G>T (p.Arg706Leu)
 dbSNP
10g.110812680G>ACA471507358RBM20c.2283G>A (p.Arg761=)
c.1899G>A (p.Arg633=)
c.2118G>A (p.Arg706=)
10g.110812680G>CCA471507359RBM20c.2283G>C (p.Arg761=)
c.1899G>C (p.Arg633=)
c.2118G>C (p.Arg706=)
10g.110812680G>TCA471507360RBM20c.2283G>T (p.Arg761=)
c.1899G>T (p.Arg633=)
c.2118G>T (p.Arg706=)
 ClinVar dbSNP
10g.110812682_110812685dupCA2610892822RBM20c.2285_2288dup (p.Pro764ArgfsTer?)
c.1901_1904dup (p.Pro636ArgfsTer?)
c.2120_2123dup (p.Pro709ArgfsTer?)
 gnomAD v4
10g.110812681A>CCA378373190RBM20c.2284A>C (p.Lys762Gln)
c.1900A>C (p.Lys634Gln)
c.2119A>C (p.Lys707Gln)
10g.110812681A>GCA378373191RBM20c.2284A>G (p.Lys762Glu)
c.1900A>G (p.Lys634Glu)
c.2119A>G (p.Lys707Glu)
 ClinVar gnomAD v4
10g.110812681A>TCA378373192RBM20c.2284A>T (p.Lys762Ter)
c.1900A>T (p.Lys634Ter)
c.2119A>T (p.Lys707Ter)
10g.110812683dupCA10576771RBM20c.2286dup (p.Glu763ArgfsTer?)
c.1902dup (p.Glu635ArgfsTer?)
c.2121dup (p.Glu708ArgfsTer?)
 ClinVar dbSNP
10g.110812682A>CCA378373193RBM20c.2285A>C (p.Lys762Thr)
c.1901A>C (p.Lys634Thr)
c.2120A>C (p.Lys707Thr)
10g.110812682A>GCA378373195RBM20c.2285A>G (p.Lys762Arg)
c.1901A>G (p.Lys634Arg)
c.2120A>G (p.Lys707Arg)
10g.110812682A>TCA378373196RBM20c.2285A>T (p.Lys762Ile)
c.1901A>T (p.Lys634Ile)
c.2120A>T (p.Lys707Ile)
10g.110812683A>CCA378373198RBM20c.2286A>C (p.Lys762Asn)
c.1902A>C (p.Lys634Asn)
c.2121A>C (p.Lys707Asn)
10g.110812683A>GCA471507365RBM20c.2286A>G (p.Lys762=)
c.1902A>G (p.Lys634=)
c.2121A>G (p.Lys707=)
 ClinVar dbSNP gnomAD v4
10g.110812683A>TCA378373199RBM20c.2286A>T (p.Lys762Asn)
c.1902A>T (p.Lys634Asn)
c.2121A>T (p.Lys707Asn)
10g.110812684G>ACA335559RBM20c.2287G>A (p.Glu763Lys)
c.1903G>A (p.Glu635Lys)
c.2122G>A (p.Glu708Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812684G>CCA378373202RBM20c.2287G>C (p.Glu763Gln)
c.1903G>C (p.Glu635Gln)
c.2122G>C (p.Glu708Gln)
 gnomAD v4
10g.110812684G>TCA378373203RBM20c.2287G>T (p.Glu763Ter)
c.1903G>T (p.Glu635Ter)
c.2122G>T (p.Glu708Ter)
10g.110812685A>CCA378373205RBM20c.2288A>C (p.Glu763Ala)
c.1904A>C (p.Glu635Ala)
c.2123A>C (p.Glu708Ala)
 gnomAD v4
10g.110812685A>GCA378373207RBM20c.2288A>G (p.Glu763Gly)
c.1904A>G (p.Glu635Gly)
c.2123A>G (p.Glu708Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812685A>TCA378373209RBM20c.2288A>T (p.Glu763Val)
c.1904A>T (p.Glu635Val)
c.2123A>T (p.Glu708Val)
10g.110812686G>ACA471507374RBM20c.2289G>A (p.Glu763=)
c.1905G>A (p.Glu635=)
c.2124G>A (p.Glu708=)
 dbSNP gnomAD v4
10g.110812686G>CCA5688679RBM20c.2289G>C (p.Glu763Asp)
c.1905G>C (p.Glu635Asp)
c.2124G>C (p.Glu708Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812686G>TCA378373210RBM20c.2289G>T (p.Glu763Asp)
c.1905G>T (p.Glu635Asp)
c.2124G>T (p.Glu708Asp)
 gnomAD v4
10g.110812687C>ACA378373214RBM20c.2290C>A (p.Pro764Thr)
c.1906C>A (p.Pro636Thr)
c.2125C>A (p.Pro709Thr)
10g.110812687C>GCA378373215RBM20c.2290C>G (p.Pro764Ala)
c.1906C>G (p.Pro636Ala)
c.2125C>G (p.Pro709Ala)
10g.110812687C>TCA213224154RBM20c.2290C>T (p.Pro764Ser)
c.1906C>T (p.Pro636Ser)
c.2125C>T (p.Pro709Ser)
 dbSNP
10g.110812688C>ACA213224164RBM20c.2291C>A (p.Pro764His)
c.1907C>A (p.Pro636His)
c.2126C>A (p.Pro709His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812688C>GCA213224174RBM20c.2291C>G (p.Pro764Arg)
c.1907C>G (p.Pro636Arg)
c.2126C>G (p.Pro709Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812688C>TCA378373221RBM20c.2291C>T (p.Pro764Leu)
c.1907C>T (p.Pro636Leu)
c.2126C>T (p.Pro709Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.110812689C>ACA471507382RBM20c.2292C>A (p.Pro764=)
c.1908C>A (p.Pro636=)
c.2127C>A (p.Pro709=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812689C>GCA471507388RBM20c.2292C>G (p.Pro764=)
c.1908C>G (p.Pro636=)
c.2127C>G (p.Pro709=)
 gnomAD v4
10g.110812689C>TCA471507386RBM20c.2292C>T (p.Pro764=)
c.1908C>T (p.Pro636=)
c.2127C>T (p.Pro709=)
10g.110812690A>CCA378373227RBM20c.2293A>C (p.Lys765Gln)
c.1909A>C (p.Lys637Gln)
c.2128A>C (p.Lys710Gln)
10g.110812690A>GCA378373223RBM20c.2293A>G (p.Lys765Glu)
c.1909A>G (p.Lys637Glu)
c.2128A>G (p.Lys710Glu)
10g.110812690A>TCA378373225RBM20c.2293A>T (p.Lys765Ter)
c.1909A>T (p.Lys637Ter)
c.2128A>T (p.Lys710Ter)
10g.110812691A>CCA378373229RBM20c.2294A>C (p.Lys765Thr)
c.1910A>C (p.Lys637Thr)
c.2129A>C (p.Lys710Thr)
 ClinVar dbSNP
10g.110812691A>GCA378373231RBM20c.2294A>G (p.Lys765Arg)
c.1910A>G (p.Lys637Arg)
c.2129A>G (p.Lys710Arg)
 dbSNP gnomAD v4
10g.110812691A>TCA378373233RBM20c.2294A>T (p.Lys765Ile)
c.1910A>T (p.Lys637Ile)
c.2129A>T (p.Lys710Ile)
10g.110812692A>CCA378373235RBM20c.2295A>C (p.Lys765Asn)
c.1911A>C (p.Lys637Asn)
c.2130A>C (p.Lys710Asn)
 dbSNP
10g.110812692A>GCA471507391RBM20c.2295A>G (p.Lys765=)
c.1911A>G (p.Lys637=)
c.2130A>G (p.Lys710=)
10g.110812692A>TCA378373236RBM20c.2295A>T (p.Lys765Asn)
c.1911A>T (p.Lys637Asn)
c.2130A>T (p.Lys710Asn)
10g.110812693delCA2610892823RBM20c.2296del (p.Ala766ProfsTer7)
c.1912del (p.Ala638ProfsTer7)
c.2131del (p.Ala711ProfsTer7)
 gnomAD v4
10g.110812693G>ACA378373237RBM20c.2296G>A (p.Ala766Thr)
c.1912G>A (p.Ala638Thr)
c.2131G>A (p.Ala711Thr)
10g.110812693G>CCA378373239RBM20c.2296G>C (p.Ala766Pro)
c.1912G>C (p.Ala638Pro)
c.2131G>C (p.Ala711Pro)
10g.110812693G>TCA378373238RBM20c.2296G>T (p.Ala766Ser)
c.1912G>T (p.Ala638Ser)
c.2131G>T (p.Ala711Ser)
10g.110812694C>ACA378373240RBM20c.2297C>A (p.Ala766Asp)
c.1913C>A (p.Ala638Asp)
c.2132C>A (p.Ala711Asp)
 gnomAD v4
10g.110812694C>GCA378373242RBM20c.2297C>G (p.Ala766Gly)
c.1913C>G (p.Ala638Gly)
c.2132C>G (p.Ala711Gly)
10g.110812694C>TCA378373244RBM20c.2297C>T (p.Ala766Val)
c.1913C>T (p.Ala638Val)
c.2132C>T (p.Ala711Val)
 dbSNP gnomAD v2
10g.110812695C>ACA471507398RBM20c.2298C>A (p.Ala766=)
c.1914C>A (p.Ala638=)
c.2133C>A (p.Ala711=)
 gnomAD v4
10g.110812695C>GCA471507399RBM20c.2298C>G (p.Ala766=)
c.1914C>G (p.Ala638=)
c.2133C>G (p.Ala711=)
10g.110812695C>TCA471507400RBM20c.2298C>T (p.Ala766=)
c.1914C>T (p.Ala638=)
c.2133C>T (p.Ala711=)
10g.110812696A>CCA335561RBM20c.2299A>C (p.Lys767Gln)
c.1915A>C (p.Lys639Gln)
c.2134A>C (p.Lys712Gln)
 ClinVar dbSNP
10g.110812696A>GCA5688680RBM20c.2299A>G (p.Lys767Glu)
c.1915A>G (p.Lys639Glu)
c.2134A>G (p.Lys712Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812696A>TCA378373247RBM20c.2299A>T (p.Lys767Ter)
c.1915A>T (p.Lys639Ter)
c.2134A>T (p.Lys712Ter)
10g.110812697A>CCA378373249RBM20c.2300A>C (p.Lys767Thr)
c.1916A>C (p.Lys639Thr)
c.2135A>C (p.Lys712Thr)
10g.110812697A>GCA378373251RBM20c.2300A>G (p.Lys767Arg)
c.1916A>G (p.Lys639Arg)
c.2135A>G (p.Lys712Arg)
10g.110812697A>TCA378373253RBM20c.2300A>T (p.Lys767Met)
c.1916A>T (p.Lys639Met)
c.2135A>T (p.Lys712Met)
10g.110812698G>ACA471506859RBM20c.2301G>A (p.Lys767=)
c.1917G>A (p.Lys639=)
c.2136G>A (p.Lys712=)
 gnomAD v4
10g.110812698G>CCA378373255RBM20c.2301G>C (p.Lys767Asn)
c.1917G>C (p.Lys639Asn)
c.2136G>C (p.Lys712Asn)
10g.110812698G>TCA5688681RBM20c.2301G>T (p.Lys767Asn)
c.1917G>T (p.Lys639Asn)
c.2136G>T (p.Lys712Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812699T>ACA378373262RBM20c.2302T>A (p.Ser768Thr)
c.1918T>A (p.Ser640Thr)
c.2137T>A (p.Ser713Thr)
10g.110812699T>CCA378373260RBM20c.2302T>C (p.Ser768Pro)
c.1918T>C (p.Ser640Pro)
c.2137T>C (p.Ser713Pro)
 dbSNP
10g.110812699T>GCA378373258RBM20c.2302T>G (p.Ser768Ala)
c.1918T>G (p.Ser640Ala)
c.2137T>G (p.Ser713Ala)
10g.110812700C>ACA378373263RBM20c.2303C>A (p.Ser768Ter)
c.1919C>A (p.Ser640Ter)
c.2138C>A (p.Ser713Ter)
 ClinVar dbSNP gnomAD v4
10g.110812700C=CA177700RBM20c.2303C= (p.Ser768=)
c.1919C= (p.Ser640=)
c.2138C= (p.Ser713=)
10g.110812700C>GCA10582704RBM20c.2303C>G (p.Ser768Trp)
c.1919C>G (p.Ser640Trp)
c.2138C>G (p.Ser713Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812700C>TCA133310RBM20c.2303C>T (p.Ser768Leu)
c.1919C>T (p.Ser640Leu)
c.2138C>T (p.Ser713Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812701G>ACA5688682RBM20c.2304G>A (p.Ser768=)
c.1920G>A (p.Ser640=)
c.2139G>A (p.Ser713=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812701G>CCA471506865RBM20c.2304G>C (p.Ser768=)
c.1920G>C (p.Ser640=)
c.2139G>C (p.Ser713=)
10g.110812701G>TCA471506866RBM20c.2304G>T (p.Ser768=)
c.1920G>T (p.Ser640=)
c.2139G>T (p.Ser713=)
10g.110812702G>ACA378373267RBM20c.2305G>A (p.Asp769Asn)
c.1921G>A (p.Asp641Asn)
c.2140G>A (p.Asp714Asn)
10g.110812702G>CCA378373268RBM20c.2305G>C (p.Asp769His)
c.1921G>C (p.Asp641His)
c.2140G>C (p.Asp714His)
10g.110812702G>TCA378373270RBM20c.2305G>T (p.Asp769Tyr)
c.1921G>T (p.Asp641Tyr)
c.2140G>T (p.Asp714Tyr)
10g.110812703A>CCA378373272RBM20c.2306A>C (p.Asp769Ala)
c.1922A>C (p.Asp641Ala)
c.2141A>C (p.Asp714Ala)
10g.110812703A>GCA213224198RBM20c.2306A>G (p.Asp769Gly)
c.1922A>G (p.Asp641Gly)
c.2141A>G (p.Asp714Gly)
 ClinVar dbSNP
10g.110812703A>TCA378373273RBM20c.2306A>T (p.Asp769Val)
c.1922A>T (p.Asp641Val)
c.2141A>T (p.Asp714Val)
10g.110812704C>ACA378373274RBM20c.2307C>A (p.Asp769Glu)
c.1923C>A (p.Asp641Glu)
c.2142C>A (p.Asp714Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.110812704C>GCA378373275RBM20c.2307C>G (p.Asp769Glu)
c.1923C>G (p.Asp641Glu)
c.2142C>G (p.Asp714Glu)
10g.110812704C>TCA471506874RBM20c.2307C>T (p.Asp769=)
c.1923C>T (p.Asp641=)
c.2142C>T (p.Asp714=)
 ClinVar dbSNP gnomAD v4
10g.110812705A>CCA378373280RBM20c.2308A>C (p.Lys770Gln)
c.1924A>C (p.Lys642Gln)
c.2143A>C (p.Lys715Gln)
10g.110812705A>GCA378373279RBM20c.2308A>G (p.Lys770Glu)
c.1924A>G (p.Lys642Glu)
c.2143A>G (p.Lys715Glu)
 gnomAD v4
10g.110812705A>TCA378373277RBM20c.2308A>T (p.Lys770Ter)
c.1924A>T (p.Lys642Ter)
c.2143A>T (p.Lys715Ter)
10g.110812706A>CCA378373281RBM20c.2309A>C (p.Lys770Thr)
c.1925A>C (p.Lys642Thr)
c.2144A>C (p.Lys715Thr)
 gnomAD v4
10g.110812706A>GCA378373283RBM20c.2309A>G (p.Lys770Arg)
c.1925A>G (p.Lys642Arg)
c.2144A>G (p.Lys715Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812706A>TCA378373282RBM20c.2309A>T (p.Lys770Met)
c.1925A>T (p.Lys642Met)
c.2144A>T (p.Lys715Met)
10g.110812707G>ACA471506879RBM20c.2310G>A (p.Lys770=)
c.1926G>A (p.Lys642=)
c.2145G>A (p.Lys715=)
 ClinVar dbSNP
10g.110812707G>CCA378373284RBM20c.2310G>C (p.Lys770Asn)
c.1926G>C (p.Lys642Asn)
c.2145G>C (p.Lys715Asn)
10g.110812707G>TCA378373285RBM20c.2310G>T (p.Lys770Asn)
c.1926G>T (p.Lys642Asn)
c.2145G>T (p.Lys715Asn)
10g.110812708T>ACA378373286RBM20c.2311T>A (p.Tyr771Asn)
c.1927T>A (p.Tyr643Asn)
c.2146T>A (p.Tyr716Asn)
10g.110812708T>CCA378373287RBM20c.2311T>C (p.Tyr771His)
c.1927T>C (p.Tyr643His)
c.2146T>C (p.Tyr716His)
 gnomAD v4
10g.110812708T>GCA378373289RBM20c.2311T>G (p.Tyr771Asp)
c.1927T>G (p.Tyr643Asp)
c.2146T>G (p.Tyr716Asp)
10g.110812709A>CCA378373291RBM20c.2312A>C (p.Tyr771Ser)
c.1928A>C (p.Tyr643Ser)
c.2147A>C (p.Tyr716Ser)
10g.110812709A>GCA378373293RBM20c.2312A>G (p.Tyr771Cys)
c.1928A>G (p.Tyr643Cys)
c.2147A>G (p.Tyr716Cys)
 ClinVar dbSNP gnomAD v4
10g.110812709A>TCA378373294RBM20c.2312A>T (p.Tyr771Phe)
c.1928A>T (p.Tyr643Phe)
c.2147A>T (p.Tyr716Phe)
10g.110812710T>ACA378373297RBM20c.2313T>A (p.Tyr771Ter)
c.1929T>A (p.Tyr643Ter)
c.2148T>A (p.Tyr716Ter)
10g.110812710T>CCA471506888RBM20c.2313T>C (p.Tyr771=)
c.1929T>C (p.Tyr643=)
c.2148T>C (p.Tyr716=)
10g.110812710T>GCA378373298RBM20c.2313T>G (p.Tyr771Ter)
c.1929T>G (p.Tyr643Ter)
c.2148T>G (p.Tyr716Ter)
10g.110812711C>ACA378373300RBM20c.2314C>A (p.Leu772Met)
c.1930C>A (p.Leu644Met)
c.2149C>A (p.Leu717Met)
10g.110812711C>GCA378373301RBM20c.2314C>G (p.Leu772Val)
c.1930C>G (p.Leu644Val)
c.2149C>G (p.Leu717Val)
10g.110812711C>TCA471506892RBM20c.2314C>T (p.Leu772=)
c.1930C>T (p.Leu644=)
c.2149C>T (p.Leu717=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812712T>ACA378373302RBM20c.2315T>A (p.Leu772Gln)
c.1931T>A (p.Leu644Gln)
c.2150T>A (p.Leu717Gln)
10g.110812712T>CCA378373303RBM20c.2315T>C (p.Leu772Pro)
c.1931T>C (p.Leu644Pro)
c.2150T>C (p.Leu717Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812712T>GCA378373306RBM20c.2315T>G (p.Leu772Arg)
c.1931T>G (p.Leu644Arg)
c.2150T>G (p.Leu717Arg)
10g.110812713G>ACA471506896RBM20c.2316G>A (p.Leu772=)
c.1932G>A (p.Leu644=)
c.2151G>A (p.Leu717=)
10g.110812713G>CCA471506898RBM20c.2316G>C (p.Leu772=)
c.1932G>C (p.Leu644=)
c.2151G>C (p.Leu717=)
10g.110812713G>TCA471506899RBM20c.2316G>T (p.Leu772=)
c.1932G>T (p.Leu644=)
c.2151G>T (p.Leu717=)
10g.110812714A>CCA378373310RBM20c.2317A>C (p.Lys773Gln)
c.1933A>C (p.Lys645Gln)
c.2152A>C (p.Lys718Gln)
10g.110812714A>GCA378373309RBM20c.2317A>G (p.Lys773Glu)
c.1933A>G (p.Lys645Glu)
c.2152A>G (p.Lys718Glu)
10g.110812714A>TCA378373307RBM20c.2317A>T (p.Lys773Ter)
c.1933A>T (p.Lys645Ter)
c.2152A>T (p.Lys718Ter)
10g.110812715A=CA2838005020RBM20c.2318A= (p.Lys773=)
c.1934A= (p.Lys645=)
c.2153A= (p.Lys718=)
10g.110812715A>CCA378373312RBM20c.2318A>C (p.Lys773Thr)
c.1934A>C (p.Lys645Thr)
c.2153A>C (p.Lys718Thr)
10g.110812715A>GCA203731RBM20c.2318A>G (p.Lys773Arg)
c.1934A>G (p.Lys645Arg)
c.2153A>G (p.Lys718Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812715A>TCA378373313RBM20c.2318A>T (p.Lys773Met)
c.1934A>T (p.Lys645Met)
c.2153A>T (p.Lys718Met)
10g.110812723_110812725delCA596112261RBM20c.2326_2328del (p.Gln776del)
c.1942_1944del (p.Gln648del)
c.2161_2163del (p.Gln721del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812716G>ACA5688683RBM20c.2319G>A (p.Lys773=)
c.1935G>A (p.Lys645=)
c.2154G>A (p.Lys718=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812716G>CCA378373316RBM20c.2319G>C (p.Lys773Asn)
c.1935G>C (p.Lys645Asn)
c.2154G>C (p.Lys718Asn)
10g.110812716G>TCA378373317RBM20c.2319G>T (p.Lys773Asn)
c.1935G>T (p.Lys645Asn)
c.2154G>T (p.Lys718Asn)
10g.110812717C>ACA378373319RBM20c.2320C>A (p.Gln774Lys)
c.1936C>A (p.Gln646Lys)
c.2155C>A (p.Gln719Lys)
10g.110812717C>GCA378373320RBM20c.2320C>G (p.Gln774Glu)
c.1936C>G (p.Gln646Glu)
c.2155C>G (p.Gln719Glu)
10g.110812717C>TCA378373322RBM20c.2320C>T (p.Gln774Ter)
c.1936C>T (p.Gln646Ter)
c.2155C>T (p.Gln719Ter)
10g.110812718A>CCA378373324RBM20c.2321A>C (p.Gln774Pro)
c.1937A>C (p.Gln646Pro)
c.2156A>C (p.Gln719Pro)
10g.110812718A>GCA378373328RBM20c.2321A>G (p.Gln774Arg)
c.1937A>G (p.Gln646Arg)
c.2156A>G (p.Gln719Arg)
10g.110812718A>TCA378373330RBM20c.2321A>T (p.Gln774Leu)
c.1937A>T (p.Gln646Leu)
c.2156A>T (p.Gln719Leu)
10g.110812719G>ACA471506916RBM20c.2322G>A (p.Gln774=)
c.1938G>A (p.Gln646=)
c.2157G>A (p.Gln719=)
 dbSNP gnomAD v2
10g.110812719G>CCA378373331RBM20c.2322G>C (p.Gln774His)
c.1938G>C (p.Gln646His)
c.2157G>C (p.Gln719His)
10g.110812719G>TCA378373332RBM20c.2322G>T (p.Gln774His)
c.1938G>T (p.Gln646His)
c.2157G>T (p.Gln719His)
10g.110812720C>ACA378373335RBM20c.2323C>A (p.Gln775Lys)
c.1939C>A (p.Gln647Lys)
c.2158C>A (p.Gln720Lys)
10g.110812720C>GCA378373341RBM20c.2323C>G (p.Gln775Glu)
c.1939C>G (p.Gln647Glu)
c.2158C>G (p.Gln720Glu)
10g.110812720C>TCA378373333RBM20c.2323C>T (p.Gln775Ter)
c.1939C>T (p.Gln647Ter)
c.2158C>T (p.Gln720Ter)
 gnomAD v4
10g.110812721_110812755delCA658797538RBM20c.2324_2358del (p.Gln775ArgfsTer14)
c.1940_1974del (p.Gln647ArgfsTer14)
c.2159_2193del (p.Gln720ArgfsTer14)
 ClinVar dbSNP gnomAD v4
10g.110812721A>CCA378373344RBM20c.2324A>C (p.Gln775Pro)
c.1940A>C (p.Gln647Pro)
c.2159A>C (p.Gln720Pro)
10g.110812721A>GCA378373347RBM20c.2324A>G (p.Gln775Arg)
c.1940A>G (p.Gln647Arg)
c.2159A>G (p.Gln720Arg)
10g.110812721A>TCA378373349RBM20c.2324A>T (p.Gln775Leu)
c.1940A>T (p.Gln647Leu)
c.2159A>T (p.Gln720Leu)
10g.110812722G>ACA471506930RBM20c.2325G>A (p.Gln775=)
c.1941G>A (p.Gln647=)
c.2160G>A (p.Gln720=)
10g.110812722G>CCA378373353RBM20c.2325G>C (p.Gln775His)
c.1941G>C (p.Gln647His)
c.2160G>C (p.Gln720His)
10g.110812722G>TCA378373355RBM20c.2325G>T (p.Gln775His)
c.1941G>T (p.Gln647His)
c.2160G>T (p.Gln720His)
10g.110812723C>ACA378373359RBM20c.2326C>A (p.Gln776Lys)
c.1942C>A (p.Gln648Lys)
c.2161C>A (p.Gln721Lys)
10g.110812723C>GCA378373362RBM20c.2326C>G (p.Gln776Glu)
c.1942C>G (p.Gln648Glu)
c.2161C>G (p.Gln721Glu)
10g.110812723C>TCA378373364RBM20c.2326C>T (p.Gln776Ter)
c.1942C>T (p.Gln648Ter)
c.2161C>T (p.Gln721Ter)
10g.110812724A>CCA378373367RBM20c.2327A>C (p.Gln776Pro)
c.1943A>C (p.Gln648Pro)
c.2162A>C (p.Gln721Pro)
 gnomAD v4
10g.110812724A>GCA378373369RBM20c.2327A>G (p.Gln776Arg)
c.1943A>G (p.Gln648Arg)
c.2162A>G (p.Gln721Arg)
 gnomAD v4
10g.110812724A>TCA378373371RBM20c.2327A>T (p.Gln776Leu)
c.1943A>T (p.Gln648Leu)
c.2162A>T (p.Gln721Leu)
10g.110812725G>ACA471506936RBM20c.2328G>A (p.Gln776=)
c.1944G>A (p.Gln648=)
c.2163G>A (p.Gln721=)
10g.110812725G>CCA378373374RBM20c.2328G>C (p.Gln776His)
c.1944G>C (p.Gln648His)
c.2163G>C (p.Gln721His)
10g.110812725G>TCA378373377RBM20c.2328G>T (p.Gln776His)
c.1944G>T (p.Gln648His)
c.2163G>T (p.Gln721His)
10g.110812726G>ACA5688684RBM20c.2329G>A (p.Asp777Asn)
c.1945G>A (p.Asp649Asn)
c.2164G>A (p.Asp722Asn)
 dbSNP ExAC gnomAD v4
10g.110812726G>CCA378373380RBM20c.2329G>C (p.Asp777His)
c.1945G>C (p.Asp649His)
c.2164G>C (p.Asp722His)
 gnomAD v4
10g.110812726G>TCA378373382RBM20c.2329G>T (p.Asp777Tyr)
c.1945G>T (p.Asp649Tyr)
c.2164G>T (p.Asp722Tyr)
 gnomAD v4
10g.110812727A>CCA378373388RBM20c.2330A>C (p.Asp777Ala)
c.1946A>C (p.Asp649Ala)
c.2165A>C (p.Asp722Ala)
10g.110812727A>GCA378373391RBM20c.2330A>G (p.Asp777Gly)
c.1946A>G (p.Asp649Gly)
c.2165A>G (p.Asp722Gly)
10g.110812727A>TCA378373393RBM20c.2330A>T (p.Asp777Val)
c.1946A>T (p.Asp649Val)
c.2165A>T (p.Asp722Val)
 gnomAD v4
10g.110812728T>ACA378373395RBM20c.2331T>A (p.Asp777Glu)
c.1947T>A (p.Asp649Glu)
c.2166T>A (p.Asp722Glu)
10g.110812728T>CCA471506939RBM20c.2331T>C (p.Asp777=)
c.1947T>C (p.Asp649=)
c.2166T>C (p.Asp722=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812728T>GCA378373399RBM20c.2331T>G (p.Asp777Glu)
c.1947T>G (p.Asp649Glu)
c.2166T>G (p.Asp722Glu)
 ClinVar dbSNP
10g.110812729G>ACA378373406RBM20c.2332G>A (p.Ala778Thr)
c.1948G>A (p.Ala650Thr)
c.2167G>A (p.Ala723Thr)
10g.110812729G>CCA378373409RBM20c.2332G>C (p.Ala778Pro)
c.1948G>C (p.Ala650Pro)
c.2167G>C (p.Ala723Pro)
10g.110812729G>TCA378373411RBM20c.2332G>T (p.Ala778Ser)
c.1948G>T (p.Ala650Ser)
c.2167G>T (p.Ala723Ser)
10g.110812730C>ACA378373414RBM20c.2333C>A (p.Ala778Asp)
c.1949C>A (p.Ala650Asp)
c.2168C>A (p.Ala723Asp)
 dbSNP gnomAD v4
10g.110812730C>GCA378373416RBM20c.2333C>G (p.Ala778Gly)
c.1949C>G (p.Ala650Gly)
c.2168C>G (p.Ala723Gly)
 gnomAD v4
10g.110812730C>TCA133313RBM20c.2333C>T (p.Ala778Val)
c.1949C>T (p.Ala650Val)
c.2168C>T (p.Ala723Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812731C>ACA471506942RBM20c.2334C>A (p.Ala778=)
c.1950C>A (p.Ala650=)
c.2169C>A (p.Ala723=)
10g.110812731C>GCA471506941RBM20c.2334C>G (p.Ala778=)
c.1950C>G (p.Ala650=)
c.2169C>G (p.Ala723=)
10g.110812731C>TCA471506943RBM20c.2334C>T (p.Ala778=)
c.1950C>T (p.Ala650=)
c.2169C>T (p.Ala723=)
 dbSNP gnomAD v4
10g.110812732C>ACA378373421RBM20c.2335C>A (p.Pro779Thr)
c.1951C>A (p.Pro651Thr)
c.2170C>A (p.Pro724Thr)
10g.110812732C>GCA378373424RBM20c.2335C>G (p.Pro779Ala)
c.1951C>G (p.Pro651Ala)
c.2170C>G (p.Pro724Ala)
 gnomAD v4
10g.110812732C>TCA378373423RBM20c.2335C>T (p.Pro779Ser)
c.1951C>T (p.Pro651Ser)
c.2170C>T (p.Pro724Ser)
 gnomAD v4

Number of alleles fetched