Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812682_110812685dup | CA2610892822 | RBM20 | c.2285_2288dup (p.Pro764ArgfsTer?) c.1901_1904dup (p.Pro636ArgfsTer?) c.2120_2123dup (p.Pro709ArgfsTer?) | gnomAD v4 |
10 | g.110812683dup | CA10576771 | RBM20 | c.2286dup (p.Glu763ArgfsTer?) c.1902dup (p.Glu635ArgfsTer?) c.2121dup (p.Glu708ArgfsTer?) | ClinVar dbSNP |
10 | g.110812682A>C | CA378373193 | RBM20 | c.2285A>C (p.Lys762Thr) c.1901A>C (p.Lys634Thr) c.2120A>C (p.Lys707Thr) | |
10 | g.110812682A>G | CA378373195 | RBM20 | c.2285A>G (p.Lys762Arg) c.1901A>G (p.Lys634Arg) c.2120A>G (p.Lys707Arg) | |
10 | g.110812682A>T | CA378373196 | RBM20 | c.2285A>T (p.Lys762Ile) c.1901A>T (p.Lys634Ile) c.2120A>T (p.Lys707Ile) | |
10 | g.110812683A>C | CA378373198 | RBM20 | c.2286A>C (p.Lys762Asn) c.1902A>C (p.Lys634Asn) c.2121A>C (p.Lys707Asn) | |
10 | g.110812683A>G | CA471507365 | RBM20 | c.2286A>G (p.Lys762=) c.1902A>G (p.Lys634=) c.2121A>G (p.Lys707=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812683A>T | CA378373199 | RBM20 | c.2286A>T (p.Lys762Asn) c.1902A>T (p.Lys634Asn) c.2121A>T (p.Lys707Asn) | |
10 | g.110812684G>A | CA335559 | RBM20 | c.2287G>A (p.Glu763Lys) c.1903G>A (p.Glu635Lys) c.2122G>A (p.Glu708Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812684G>C | CA378373202 | RBM20 | c.2287G>C (p.Glu763Gln) c.1903G>C (p.Glu635Gln) c.2122G>C (p.Glu708Gln) | gnomAD v4 |
10 | g.110812684G>T | CA378373203 | RBM20 | c.2287G>T (p.Glu763Ter) c.1903G>T (p.Glu635Ter) c.2122G>T (p.Glu708Ter) | |
10 | g.110812685A>C | CA378373205 | RBM20 | c.2288A>C (p.Glu763Ala) c.1904A>C (p.Glu635Ala) c.2123A>C (p.Glu708Ala) | gnomAD v4 |
10 | g.110812685A>G | CA378373207 | RBM20 | c.2288A>G (p.Glu763Gly) c.1904A>G (p.Glu635Gly) c.2123A>G (p.Glu708Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812685A>T | CA378373209 | RBM20 | c.2288A>T (p.Glu763Val) c.1904A>T (p.Glu635Val) c.2123A>T (p.Glu708Val) | |
10 | g.110812686G>A | CA471507374 | RBM20 | c.2289G>A (p.Glu763=) c.1905G>A (p.Glu635=) c.2124G>A (p.Glu708=) | dbSNP gnomAD v4 |
10 | g.110812686G>C | CA5688679 | RBM20 | c.2289G>C (p.Glu763Asp) c.1905G>C (p.Glu635Asp) c.2124G>C (p.Glu708Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812686G>T | CA378373210 | RBM20 | c.2289G>T (p.Glu763Asp) c.1905G>T (p.Glu635Asp) c.2124G>T (p.Glu708Asp) | gnomAD v4 |
10 | g.110812687C>A | CA378373214 | RBM20 | c.2290C>A (p.Pro764Thr) c.1906C>A (p.Pro636Thr) c.2125C>A (p.Pro709Thr) | |
10 | g.110812687C>G | CA378373215 | RBM20 | c.2290C>G (p.Pro764Ala) c.1906C>G (p.Pro636Ala) c.2125C>G (p.Pro709Ala) | |
10 | g.110812687C>T | CA213224154 | RBM20 | c.2290C>T (p.Pro764Ser) c.1906C>T (p.Pro636Ser) c.2125C>T (p.Pro709Ser) | dbSNP |
10 | g.110812688C>A | CA213224164 | RBM20 | c.2291C>A (p.Pro764His) c.1907C>A (p.Pro636His) c.2126C>A (p.Pro709His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812688C>G | CA213224174 | RBM20 | c.2291C>G (p.Pro764Arg) c.1907C>G (p.Pro636Arg) c.2126C>G (p.Pro709Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812688C>T | CA378373221 | RBM20 | c.2291C>T (p.Pro764Leu) c.1907C>T (p.Pro636Leu) c.2126C>T (p.Pro709Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812689C>A | CA471507382 | RBM20 | c.2292C>A (p.Pro764=) c.1908C>A (p.Pro636=) c.2127C>A (p.Pro709=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812689C>G | CA471507388 | RBM20 | c.2292C>G (p.Pro764=) c.1908C>G (p.Pro636=) c.2127C>G (p.Pro709=) | gnomAD v4 |
10 | g.110812689C>T | CA471507386 | RBM20 | c.2292C>T (p.Pro764=) c.1908C>T (p.Pro636=) c.2127C>T (p.Pro709=) | |
10 | g.110812690A>C | CA378373227 | RBM20 | c.2293A>C (p.Lys765Gln) c.1909A>C (p.Lys637Gln) c.2128A>C (p.Lys710Gln) | |
10 | g.110812690A>G | CA378373223 | RBM20 | c.2293A>G (p.Lys765Glu) c.1909A>G (p.Lys637Glu) c.2128A>G (p.Lys710Glu) | |
10 | g.110812690A>T | CA378373225 | RBM20 | c.2293A>T (p.Lys765Ter) c.1909A>T (p.Lys637Ter) c.2128A>T (p.Lys710Ter) | |
10 | g.110812691A>C | CA378373229 | RBM20 | c.2294A>C (p.Lys765Thr) c.1910A>C (p.Lys637Thr) c.2129A>C (p.Lys710Thr) | ClinVar dbSNP |
10 | g.110812691A>G | CA378373231 | RBM20 | c.2294A>G (p.Lys765Arg) c.1910A>G (p.Lys637Arg) c.2129A>G (p.Lys710Arg) | dbSNP gnomAD v4 |
10 | g.110812691A>T | CA378373233 | RBM20 | c.2294A>T (p.Lys765Ile) c.1910A>T (p.Lys637Ile) c.2129A>T (p.Lys710Ile) | |
10 | g.110812692A>C | CA378373235 | RBM20 | c.2295A>C (p.Lys765Asn) c.1911A>C (p.Lys637Asn) c.2130A>C (p.Lys710Asn) | dbSNP |
10 | g.110812692A>G | CA471507391 | RBM20 | c.2295A>G (p.Lys765=) c.1911A>G (p.Lys637=) c.2130A>G (p.Lys710=) | |
10 | g.110812692A>T | CA378373236 | RBM20 | c.2295A>T (p.Lys765Asn) c.1911A>T (p.Lys637Asn) c.2130A>T (p.Lys710Asn) | |
10 | g.110812693del | CA2610892823 | RBM20 | c.2296del (p.Ala766ProfsTer7) c.1912del (p.Ala638ProfsTer7) c.2131del (p.Ala711ProfsTer7) | gnomAD v4 |
10 | g.110812693G>A | CA378373237 | RBM20 | c.2296G>A (p.Ala766Thr) c.1912G>A (p.Ala638Thr) c.2131G>A (p.Ala711Thr) | |
10 | g.110812693G>C | CA378373239 | RBM20 | c.2296G>C (p.Ala766Pro) c.1912G>C (p.Ala638Pro) c.2131G>C (p.Ala711Pro) | |
10 | g.110812693G>T | CA378373238 | RBM20 | c.2296G>T (p.Ala766Ser) c.1912G>T (p.Ala638Ser) c.2131G>T (p.Ala711Ser) | |
10 | g.110812694C>A | CA378373240 | RBM20 | c.2297C>A (p.Ala766Asp) c.1913C>A (p.Ala638Asp) c.2132C>A (p.Ala711Asp) | gnomAD v4 |
10 | g.110812694C>G | CA378373242 | RBM20 | c.2297C>G (p.Ala766Gly) c.1913C>G (p.Ala638Gly) c.2132C>G (p.Ala711Gly) | |
10 | g.110812694C>T | CA378373244 | RBM20 | c.2297C>T (p.Ala766Val) c.1913C>T (p.Ala638Val) c.2132C>T (p.Ala711Val) | dbSNP gnomAD v2 |
10 | g.110812695C>A | CA471507398 | RBM20 | c.2298C>A (p.Ala766=) c.1914C>A (p.Ala638=) c.2133C>A (p.Ala711=) | gnomAD v4 |
10 | g.110812695C>G | CA471507399 | RBM20 | c.2298C>G (p.Ala766=) c.1914C>G (p.Ala638=) c.2133C>G (p.Ala711=) | |
10 | g.110812695C>T | CA471507400 | RBM20 | c.2298C>T (p.Ala766=) c.1914C>T (p.Ala638=) c.2133C>T (p.Ala711=) | |
10 | g.110812696A>C | CA335561 | RBM20 | c.2299A>C (p.Lys767Gln) c.1915A>C (p.Lys639Gln) c.2134A>C (p.Lys712Gln) | ClinVar dbSNP |
10 | g.110812696A>G | CA5688680 | RBM20 | c.2299A>G (p.Lys767Glu) c.1915A>G (p.Lys639Glu) c.2134A>G (p.Lys712Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812696A>T | CA378373247 | RBM20 | c.2299A>T (p.Lys767Ter) c.1915A>T (p.Lys639Ter) c.2134A>T (p.Lys712Ter) | |
10 | g.110812697A>C | CA378373249 | RBM20 | c.2300A>C (p.Lys767Thr) c.1916A>C (p.Lys639Thr) c.2135A>C (p.Lys712Thr) | |
10 | g.110812697A>G | CA378373251 | RBM20 | c.2300A>G (p.Lys767Arg) c.1916A>G (p.Lys639Arg) c.2135A>G (p.Lys712Arg) | |
10 | g.110812697A>T | CA378373253 | RBM20 | c.2300A>T (p.Lys767Met) c.1916A>T (p.Lys639Met) c.2135A>T (p.Lys712Met) | |
10 | g.110812698G>A | CA471506859 | RBM20 | c.2301G>A (p.Lys767=) c.1917G>A (p.Lys639=) c.2136G>A (p.Lys712=) | gnomAD v4 |
10 | g.110812698G>C | CA378373255 | RBM20 | c.2301G>C (p.Lys767Asn) c.1917G>C (p.Lys639Asn) c.2136G>C (p.Lys712Asn) | |
10 | g.110812698G>T | CA5688681 | RBM20 | c.2301G>T (p.Lys767Asn) c.1917G>T (p.Lys639Asn) c.2136G>T (p.Lys712Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812699T>A | CA378373262 | RBM20 | c.2302T>A (p.Ser768Thr) c.1918T>A (p.Ser640Thr) c.2137T>A (p.Ser713Thr) | |
10 | g.110812699T>C | CA378373260 | RBM20 | c.2302T>C (p.Ser768Pro) c.1918T>C (p.Ser640Pro) c.2137T>C (p.Ser713Pro) | dbSNP |
10 | g.110812699T>G | CA378373258 | RBM20 | c.2302T>G (p.Ser768Ala) c.1918T>G (p.Ser640Ala) c.2137T>G (p.Ser713Ala) | |
10 | g.110812700C>A | CA378373263 | RBM20 | c.2303C>A (p.Ser768Ter) c.1919C>A (p.Ser640Ter) c.2138C>A (p.Ser713Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.110812700C= | CA177700 | RBM20 | c.2303C= (p.Ser768=) c.1919C= (p.Ser640=) c.2138C= (p.Ser713=) | |
10 | g.110812700C>G | CA10582704 | RBM20 | c.2303C>G (p.Ser768Trp) c.1919C>G (p.Ser640Trp) c.2138C>G (p.Ser713Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812700C>T | CA133310 | RBM20 | c.2303C>T (p.Ser768Leu) c.1919C>T (p.Ser640Leu) c.2138C>T (p.Ser713Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812701G>A | CA5688682 | RBM20 | c.2304G>A (p.Ser768=) c.1920G>A (p.Ser640=) c.2139G>A (p.Ser713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812701G>C | CA471506865 | RBM20 | c.2304G>C (p.Ser768=) c.1920G>C (p.Ser640=) c.2139G>C (p.Ser713=) | |
10 | g.110812701G>T | CA471506866 | RBM20 | c.2304G>T (p.Ser768=) c.1920G>T (p.Ser640=) c.2139G>T (p.Ser713=) | |
10 | g.110812702G>A | CA378373267 | RBM20 | c.2305G>A (p.Asp769Asn) c.1921G>A (p.Asp641Asn) c.2140G>A (p.Asp714Asn) | |
10 | g.110812702G>C | CA378373268 | RBM20 | c.2305G>C (p.Asp769His) c.1921G>C (p.Asp641His) c.2140G>C (p.Asp714His) | |
10 | g.110812702G>T | CA378373270 | RBM20 | c.2305G>T (p.Asp769Tyr) c.1921G>T (p.Asp641Tyr) c.2140G>T (p.Asp714Tyr) | |
10 | g.110812703A>C | CA378373272 | RBM20 | c.2306A>C (p.Asp769Ala) c.1922A>C (p.Asp641Ala) c.2141A>C (p.Asp714Ala) | |
10 | g.110812703A>G | CA213224198 | RBM20 | c.2306A>G (p.Asp769Gly) c.1922A>G (p.Asp641Gly) c.2141A>G (p.Asp714Gly) | ClinVar dbSNP |
10 | g.110812703A>T | CA378373273 | RBM20 | c.2306A>T (p.Asp769Val) c.1922A>T (p.Asp641Val) c.2141A>T (p.Asp714Val) | |
10 | g.110812704C>A | CA378373274 | RBM20 | c.2307C>A (p.Asp769Glu) c.1923C>A (p.Asp641Glu) c.2142C>A (p.Asp714Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812704C>G | CA378373275 | RBM20 | c.2307C>G (p.Asp769Glu) c.1923C>G (p.Asp641Glu) c.2142C>G (p.Asp714Glu) | |
10 | g.110812704C>T | CA471506874 | RBM20 | c.2307C>T (p.Asp769=) c.1923C>T (p.Asp641=) c.2142C>T (p.Asp714=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812705A>C | CA378373280 | RBM20 | c.2308A>C (p.Lys770Gln) c.1924A>C (p.Lys642Gln) c.2143A>C (p.Lys715Gln) | |
10 | g.110812705A>G | CA378373279 | RBM20 | c.2308A>G (p.Lys770Glu) c.1924A>G (p.Lys642Glu) c.2143A>G (p.Lys715Glu) | gnomAD v4 |
10 | g.110812705A>T | CA378373277 | RBM20 | c.2308A>T (p.Lys770Ter) c.1924A>T (p.Lys642Ter) c.2143A>T (p.Lys715Ter) | |
10 | g.110812706A>C | CA378373281 | RBM20 | c.2309A>C (p.Lys770Thr) c.1925A>C (p.Lys642Thr) c.2144A>C (p.Lys715Thr) | gnomAD v4 |
10 | g.110812706A>G | CA378373283 | RBM20 | c.2309A>G (p.Lys770Arg) c.1925A>G (p.Lys642Arg) c.2144A>G (p.Lys715Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812706A>T | CA378373282 | RBM20 | c.2309A>T (p.Lys770Met) c.1925A>T (p.Lys642Met) c.2144A>T (p.Lys715Met) | |
10 | g.110812707G>A | CA471506879 | RBM20 | c.2310G>A (p.Lys770=) c.1926G>A (p.Lys642=) c.2145G>A (p.Lys715=) | ClinVar dbSNP |
10 | g.110812707G>C | CA378373284 | RBM20 | c.2310G>C (p.Lys770Asn) c.1926G>C (p.Lys642Asn) c.2145G>C (p.Lys715Asn) | |
10 | g.110812707G>T | CA378373285 | RBM20 | c.2310G>T (p.Lys770Asn) c.1926G>T (p.Lys642Asn) c.2145G>T (p.Lys715Asn) | |
10 | g.110812708T>A | CA378373286 | RBM20 | c.2311T>A (p.Tyr771Asn) c.1927T>A (p.Tyr643Asn) c.2146T>A (p.Tyr716Asn) | |
10 | g.110812708T>C | CA378373287 | RBM20 | c.2311T>C (p.Tyr771His) c.1927T>C (p.Tyr643His) c.2146T>C (p.Tyr716His) | gnomAD v4 |
10 | g.110812708T>G | CA378373289 | RBM20 | c.2311T>G (p.Tyr771Asp) c.1927T>G (p.Tyr643Asp) c.2146T>G (p.Tyr716Asp) | |
10 | g.110812709A>C | CA378373291 | RBM20 | c.2312A>C (p.Tyr771Ser) c.1928A>C (p.Tyr643Ser) c.2147A>C (p.Tyr716Ser) | |
10 | g.110812709A>G | CA378373293 | RBM20 | c.2312A>G (p.Tyr771Cys) c.1928A>G (p.Tyr643Cys) c.2147A>G (p.Tyr716Cys) | ClinVar dbSNP gnomAD v4 |
10 | g.110812709A>T | CA378373294 | RBM20 | c.2312A>T (p.Tyr771Phe) c.1928A>T (p.Tyr643Phe) c.2147A>T (p.Tyr716Phe) | |
10 | g.110812710T>A | CA378373297 | RBM20 | c.2313T>A (p.Tyr771Ter) c.1929T>A (p.Tyr643Ter) c.2148T>A (p.Tyr716Ter) | |
10 | g.110812710T>C | CA471506888 | RBM20 | c.2313T>C (p.Tyr771=) c.1929T>C (p.Tyr643=) c.2148T>C (p.Tyr716=) | |
10 | g.110812710T>G | CA378373298 | RBM20 | c.2313T>G (p.Tyr771Ter) c.1929T>G (p.Tyr643Ter) c.2148T>G (p.Tyr716Ter) | |
10 | g.110812711C>A | CA378373300 | RBM20 | c.2314C>A (p.Leu772Met) c.1930C>A (p.Leu644Met) c.2149C>A (p.Leu717Met) | |
10 | g.110812711C>G | CA378373301 | RBM20 | c.2314C>G (p.Leu772Val) c.1930C>G (p.Leu644Val) c.2149C>G (p.Leu717Val) | |
10 | g.110812711C>T | CA471506892 | RBM20 | c.2314C>T (p.Leu772=) c.1930C>T (p.Leu644=) c.2149C>T (p.Leu717=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812712T>A | CA378373302 | RBM20 | c.2315T>A (p.Leu772Gln) c.1931T>A (p.Leu644Gln) c.2150T>A (p.Leu717Gln) | |
10 | g.110812712T>C | CA378373303 | RBM20 | c.2315T>C (p.Leu772Pro) c.1931T>C (p.Leu644Pro) c.2150T>C (p.Leu717Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812712T>G | CA378373306 | RBM20 | c.2315T>G (p.Leu772Arg) c.1931T>G (p.Leu644Arg) c.2150T>G (p.Leu717Arg) | |
10 | g.110812713G>A | CA471506896 | RBM20 | c.2316G>A (p.Leu772=) c.1932G>A (p.Leu644=) c.2151G>A (p.Leu717=) | |
10 | g.110812713G>C | CA471506898 | RBM20 | c.2316G>C (p.Leu772=) c.1932G>C (p.Leu644=) c.2151G>C (p.Leu717=) | |
10 | g.110812713G>T | CA471506899 | RBM20 | c.2316G>T (p.Leu772=) c.1932G>T (p.Leu644=) c.2151G>T (p.Leu717=) | |
10 | g.110812714A>C | CA378373310 | RBM20 | c.2317A>C (p.Lys773Gln) c.1933A>C (p.Lys645Gln) c.2152A>C (p.Lys718Gln) | |
10 | g.110812714A>G | CA378373309 | RBM20 | c.2317A>G (p.Lys773Glu) c.1933A>G (p.Lys645Glu) c.2152A>G (p.Lys718Glu) | |
10 | g.110812714A>T | CA378373307 | RBM20 | c.2317A>T (p.Lys773Ter) c.1933A>T (p.Lys645Ter) c.2152A>T (p.Lys718Ter) | |
10 | g.110812715A= | CA2838005020 | RBM20 | c.2318A= (p.Lys773=) c.1934A= (p.Lys645=) c.2153A= (p.Lys718=) | |
10 | g.110812715A>C | CA378373312 | RBM20 | c.2318A>C (p.Lys773Thr) c.1934A>C (p.Lys645Thr) c.2153A>C (p.Lys718Thr) | |
10 | g.110812715A>G | CA203731 | RBM20 | c.2318A>G (p.Lys773Arg) c.1934A>G (p.Lys645Arg) c.2153A>G (p.Lys718Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812715A>T | CA378373313 | RBM20 | c.2318A>T (p.Lys773Met) c.1934A>T (p.Lys645Met) c.2153A>T (p.Lys718Met) | |
10 | g.110812723_110812725del | CA596112261 | RBM20 | c.2326_2328del (p.Gln776del) c.1942_1944del (p.Gln648del) c.2161_2163del (p.Gln721del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812716G>A | CA5688683 | RBM20 | c.2319G>A (p.Lys773=) c.1935G>A (p.Lys645=) c.2154G>A (p.Lys718=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812716G>C | CA378373316 | RBM20 | c.2319G>C (p.Lys773Asn) c.1935G>C (p.Lys645Asn) c.2154G>C (p.Lys718Asn) | |
10 | g.110812716G>T | CA378373317 | RBM20 | c.2319G>T (p.Lys773Asn) c.1935G>T (p.Lys645Asn) c.2154G>T (p.Lys718Asn) | |
10 | g.110812717C>A | CA378373319 | RBM20 | c.2320C>A (p.Gln774Lys) c.1936C>A (p.Gln646Lys) c.2155C>A (p.Gln719Lys) | |
10 | g.110812717C>G | CA378373320 | RBM20 | c.2320C>G (p.Gln774Glu) c.1936C>G (p.Gln646Glu) c.2155C>G (p.Gln719Glu) | |
10 | g.110812717C>T | CA378373322 | RBM20 | c.2320C>T (p.Gln774Ter) c.1936C>T (p.Gln646Ter) c.2155C>T (p.Gln719Ter) | |
10 | g.110812718A>C | CA378373324 | RBM20 | c.2321A>C (p.Gln774Pro) c.1937A>C (p.Gln646Pro) c.2156A>C (p.Gln719Pro) | |
10 | g.110812718A>G | CA378373328 | RBM20 | c.2321A>G (p.Gln774Arg) c.1937A>G (p.Gln646Arg) c.2156A>G (p.Gln719Arg) | |
10 | g.110812718A>T | CA378373330 | RBM20 | c.2321A>T (p.Gln774Leu) c.1937A>T (p.Gln646Leu) c.2156A>T (p.Gln719Leu) | |
10 | g.110812719G>A | CA471506916 | RBM20 | c.2322G>A (p.Gln774=) c.1938G>A (p.Gln646=) c.2157G>A (p.Gln719=) | dbSNP gnomAD v2 |
10 | g.110812719G>C | CA378373331 | RBM20 | c.2322G>C (p.Gln774His) c.1938G>C (p.Gln646His) c.2157G>C (p.Gln719His) | |
10 | g.110812719G>T | CA378373332 | RBM20 | c.2322G>T (p.Gln774His) c.1938G>T (p.Gln646His) c.2157G>T (p.Gln719His) | |
10 | g.110812720C>A | CA378373335 | RBM20 | c.2323C>A (p.Gln775Lys) c.1939C>A (p.Gln647Lys) c.2158C>A (p.Gln720Lys) | |
10 | g.110812720C>G | CA378373341 | RBM20 | c.2323C>G (p.Gln775Glu) c.1939C>G (p.Gln647Glu) c.2158C>G (p.Gln720Glu) | |
10 | g.110812720C>T | CA378373333 | RBM20 | c.2323C>T (p.Gln775Ter) c.1939C>T (p.Gln647Ter) c.2158C>T (p.Gln720Ter) | gnomAD v4 |
10 | g.110812721_110812755del | CA658797538 | RBM20 | c.2324_2358del (p.Gln775ArgfsTer14) c.1940_1974del (p.Gln647ArgfsTer14) c.2159_2193del (p.Gln720ArgfsTer14) | ClinVar dbSNP gnomAD v4 |
10 | g.110812721A>C | CA378373344 | RBM20 | c.2324A>C (p.Gln775Pro) c.1940A>C (p.Gln647Pro) c.2159A>C (p.Gln720Pro) | |
10 | g.110812721A>G | CA378373347 | RBM20 | c.2324A>G (p.Gln775Arg) c.1940A>G (p.Gln647Arg) c.2159A>G (p.Gln720Arg) | |
10 | g.110812721A>T | CA378373349 | RBM20 | c.2324A>T (p.Gln775Leu) c.1940A>T (p.Gln647Leu) c.2159A>T (p.Gln720Leu) | |
10 | g.110812722G>A | CA471506930 | RBM20 | c.2325G>A (p.Gln775=) c.1941G>A (p.Gln647=) c.2160G>A (p.Gln720=) | |
10 | g.110812722G>C | CA378373353 | RBM20 | c.2325G>C (p.Gln775His) c.1941G>C (p.Gln647His) c.2160G>C (p.Gln720His) | |
10 | g.110812722G>T | CA378373355 | RBM20 | c.2325G>T (p.Gln775His) c.1941G>T (p.Gln647His) c.2160G>T (p.Gln720His) | |
10 | g.110812723C>A | CA378373359 | RBM20 | c.2326C>A (p.Gln776Lys) c.1942C>A (p.Gln648Lys) c.2161C>A (p.Gln721Lys) | |
10 | g.110812723C>G | CA378373362 | RBM20 | c.2326C>G (p.Gln776Glu) c.1942C>G (p.Gln648Glu) c.2161C>G (p.Gln721Glu) | |
10 | g.110812723C>T | CA378373364 | RBM20 | c.2326C>T (p.Gln776Ter) c.1942C>T (p.Gln648Ter) c.2161C>T (p.Gln721Ter) | |
10 | g.110812724A>C | CA378373367 | RBM20 | c.2327A>C (p.Gln776Pro) c.1943A>C (p.Gln648Pro) c.2162A>C (p.Gln721Pro) | gnomAD v4 |
10 | g.110812724A>G | CA378373369 | RBM20 | c.2327A>G (p.Gln776Arg) c.1943A>G (p.Gln648Arg) c.2162A>G (p.Gln721Arg) | gnomAD v4 |
10 | g.110812724A>T | CA378373371 | RBM20 | c.2327A>T (p.Gln776Leu) c.1943A>T (p.Gln648Leu) c.2162A>T (p.Gln721Leu) | |
10 | g.110812725G>A | CA471506936 | RBM20 | c.2328G>A (p.Gln776=) c.1944G>A (p.Gln648=) c.2163G>A (p.Gln721=) | |
10 | g.110812725G>C | CA378373374 | RBM20 | c.2328G>C (p.Gln776His) c.1944G>C (p.Gln648His) c.2163G>C (p.Gln721His) | |
10 | g.110812725G>T | CA378373377 | RBM20 | c.2328G>T (p.Gln776His) c.1944G>T (p.Gln648His) c.2163G>T (p.Gln721His) | |
10 | g.110812726G>A | CA5688684 | RBM20 | c.2329G>A (p.Asp777Asn) c.1945G>A (p.Asp649Asn) c.2164G>A (p.Asp722Asn) | dbSNP ExAC gnomAD v4 |
10 | g.110812726G>C | CA378373380 | RBM20 | c.2329G>C (p.Asp777His) c.1945G>C (p.Asp649His) c.2164G>C (p.Asp722His) | gnomAD v4 |
10 | g.110812726G>T | CA378373382 | RBM20 | c.2329G>T (p.Asp777Tyr) c.1945G>T (p.Asp649Tyr) c.2164G>T (p.Asp722Tyr) | gnomAD v4 |
10 | g.110812727A>C | CA378373388 | RBM20 | c.2330A>C (p.Asp777Ala) c.1946A>C (p.Asp649Ala) c.2165A>C (p.Asp722Ala) | |
10 | g.110812727A>G | CA378373391 | RBM20 | c.2330A>G (p.Asp777Gly) c.1946A>G (p.Asp649Gly) c.2165A>G (p.Asp722Gly) | |
10 | g.110812727A>T | CA378373393 | RBM20 | c.2330A>T (p.Asp777Val) c.1946A>T (p.Asp649Val) c.2165A>T (p.Asp722Val) | gnomAD v4 |
10 | g.110812728T>A | CA378373395 | RBM20 | c.2331T>A (p.Asp777Glu) c.1947T>A (p.Asp649Glu) c.2166T>A (p.Asp722Glu) | |
10 | g.110812728T>C | CA471506939 | RBM20 | c.2331T>C (p.Asp777=) c.1947T>C (p.Asp649=) c.2166T>C (p.Asp722=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812728T>G | CA378373399 | RBM20 | c.2331T>G (p.Asp777Glu) c.1947T>G (p.Asp649Glu) c.2166T>G (p.Asp722Glu) | ClinVar dbSNP |
10 | g.110812729G>A | CA378373406 | RBM20 | c.2332G>A (p.Ala778Thr) c.1948G>A (p.Ala650Thr) c.2167G>A (p.Ala723Thr) | |
10 | g.110812729G>C | CA378373409 | RBM20 | c.2332G>C (p.Ala778Pro) c.1948G>C (p.Ala650Pro) c.2167G>C (p.Ala723Pro) | |
10 | g.110812729G>T | CA378373411 | RBM20 | c.2332G>T (p.Ala778Ser) c.1948G>T (p.Ala650Ser) c.2167G>T (p.Ala723Ser) | |
10 | g.110812730C>A | CA378373414 | RBM20 | c.2333C>A (p.Ala778Asp) c.1949C>A (p.Ala650Asp) c.2168C>A (p.Ala723Asp) | dbSNP gnomAD v4 |
10 | g.110812730C>G | CA378373416 | RBM20 | c.2333C>G (p.Ala778Gly) c.1949C>G (p.Ala650Gly) c.2168C>G (p.Ala723Gly) | gnomAD v4 |
10 | g.110812730C>T | CA133313 | RBM20 | c.2333C>T (p.Ala778Val) c.1949C>T (p.Ala650Val) c.2168C>T (p.Ala723Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812731C>A | CA471506942 | RBM20 | c.2334C>A (p.Ala778=) c.1950C>A (p.Ala650=) c.2169C>A (p.Ala723=) | |
10 | g.110812731C>G | CA471506941 | RBM20 | c.2334C>G (p.Ala778=) c.1950C>G (p.Ala650=) c.2169C>G (p.Ala723=) | |
10 | g.110812731C>T | CA471506943 | RBM20 | c.2334C>T (p.Ala778=) c.1950C>T (p.Ala650=) c.2169C>T (p.Ala723=) | dbSNP gnomAD v4 |
10 | g.110812732C>A | CA378373421 | RBM20 | c.2335C>A (p.Pro779Thr) c.1951C>A (p.Pro651Thr) c.2170C>A (p.Pro724Thr) | |
10 | g.110812732C>G | CA378373424 | RBM20 | c.2335C>G (p.Pro779Ala) c.1951C>G (p.Pro651Ala) c.2170C>G (p.Pro724Ala) | gnomAD v4 |
10 | g.110812732C>T | CA378373423 | RBM20 | c.2335C>T (p.Pro779Ser) c.1951C>T (p.Pro651Ser) c.2170C>T (p.Pro724Ser) | gnomAD v4 |
10 | g.110812733C>A | CA378373425 | RBM20 | c.2336C>A (p.Pro779His) c.1952C>A (p.Pro651His) c.2171C>A (p.Pro724His) | gnomAD v4 |
10 | g.110812733C>G | CA378373429 | RBM20 | c.2336C>G (p.Pro779Arg) c.1952C>G (p.Pro651Arg) c.2171C>G (p.Pro724Arg) | |
10 | g.110812733C>T | CA378373426 | RBM20 | c.2336C>T (p.Pro779Leu) c.1952C>T (p.Pro651Leu) c.2171C>T (p.Pro724Leu) | ClinVar gnomAD v4 |
10 | g.110812734C>A | CA471506944 | RBM20 | c.2337C>A (p.Pro779=) c.1953C>A (p.Pro651=) c.2172C>A (p.Pro724=) | gnomAD v4 |
10 | g.110812734C>G | CA471506946 | RBM20 | c.2337C>G (p.Pro779=) c.1953C>G (p.Pro651=) c.2172C>G (p.Pro724=) | |
10 | g.110812734C>T | CA471506948 | RBM20 | c.2337C>T (p.Pro779=) c.1953C>T (p.Pro651=) c.2172C>T (p.Pro724=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.110812735G>A | CA5688685 | RBM20 | c.2338G>A (p.Gly780Arg) c.1954G>A (p.Gly652Arg) c.2173G>A (p.Gly725Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812735G>C | CA353973 | RBM20 | c.2338G>C (p.Gly780Arg) c.1954G>C (p.Gly652Arg) c.2173G>C (p.Gly725Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.110812735G>T | CA378373434 | RBM20 | c.2338G>T (p.Gly780Trp) c.1954G>T (p.Gly652Trp) c.2173G>T (p.Gly725Trp) | ClinVar dbSNP gnomAD v4 |
10 | g.110812737del | CA2610892824 | RBM20 | c.2340del (p.Arg781GlyfsTer?) c.1956del (p.Arg653GlyfsTer?) c.2175del (p.Arg726GlyfsTer?) | gnomAD v4 |
10 | g.110812736G>A | CA378373438 | RBM20 | c.2339G>A (p.Gly780Glu) c.1955G>A (p.Gly652Glu) c.2174G>A (p.Gly725Glu) | ClinVar gnomAD v4 |
10 | g.110812736G>C | CA378373440 | RBM20 | c.2339G>C (p.Gly780Ala) c.1955G>C (p.Gly652Ala) c.2174G>C (p.Gly725Ala) | |
10 | g.110812736G>T | CA378373444 | RBM20 | c.2339G>T (p.Gly780Val) c.1955G>T (p.Gly652Val) c.2174G>T (p.Gly725Val) | |
10 | g.110812737G>A | CA471506955 | RBM20 | c.2340G>A (p.Gly780=) c.1956G>A (p.Gly652=) c.2175G>A (p.Gly725=) | gnomAD v4 |
10 | g.110812737G>C | CA471506956 | RBM20 | c.2340G>C (p.Gly780=) c.1956G>C (p.Gly652=) c.2175G>C (p.Gly725=) | |
10 | g.110812737G>T | CA471506957 | RBM20 | c.2340G>T (p.Gly780=) c.1956G>T (p.Gly652=) c.2175G>T (p.Gly725=) | |
10 | g.110812738A>C | CA471506958 | RBM20 | c.2341A>C (p.Arg781=) c.1957A>C (p.Arg653=) c.2176A>C (p.Arg726=) | |
10 | g.110812738A>G | CA378373445 | RBM20 | c.2341A>G (p.Arg781Gly) c.1957A>G (p.Arg653Gly) c.2176A>G (p.Arg726Gly) | gnomAD v4 |
10 | g.110812738A>T | CA378373452 | RBM20 | c.2341A>T (p.Arg781Trp) c.1957A>T (p.Arg653Trp) c.2176A>T (p.Arg726Trp) | |
10 | g.110812739G>A | CA378373455 | RBM20 | c.2342G>A (p.Arg781Lys) c.1958G>A (p.Arg653Lys) c.2177G>A (p.Arg726Lys) | dbSNP gnomAD v4 |
10 | g.110812739G>C | CA378373459 | RBM20 | c.2342G>C (p.Arg781Thr) c.1958G>C (p.Arg653Thr) c.2177G>C (p.Arg726Thr) | |
10 | g.110812739G>T | CA378373464 | RBM20 | c.2342G>T (p.Arg781Met) c.1958G>T (p.Arg653Met) c.2177G>T (p.Arg726Met) | gnomAD v4 |
10 | g.110812740del | CA659824936 | RBM20 | c.2343del (p.Arg781SerfsTer?) c.1959del (p.Arg653SerfsTer?) c.2178del (p.Arg726SerfsTer?) | ClinVar dbSNP |
10 | g.110812740G>A | CA471506963 | RBM20 | c.2343G>A (p.Arg781=) c.1959G>A (p.Arg653=) c.2178G>A (p.Arg726=) | |
10 | g.110812740G>C | CA378373465 | RBM20 | c.2343G>C (p.Arg781Ser) c.1959G>C (p.Arg653Ser) c.2178G>C (p.Arg726Ser) | |
10 | g.110812740G>T | CA378373466 | RBM20 | c.2343G>T (p.Arg781Ser) c.1959G>T (p.Arg653Ser) c.2178G>T (p.Arg726Ser) | gnomAD v4 |
10 | g.110812741T>A | CA378373468 | RBM20 | c.2344T>A (p.Ser782Thr) c.1960T>A (p.Ser654Thr) c.2179T>A (p.Ser727Thr) | |
10 | g.110812741T>C | CA378373475 | RBM20 | c.2344T>C (p.Ser782Pro) c.1960T>C (p.Ser654Pro) c.2179T>C (p.Ser727Pro) | gnomAD v4 |
10 | g.110812741T>G | CA378373472 | RBM20 | c.2344T>G (p.Ser782Ala) c.1960T>G (p.Ser654Ala) c.2179T>G (p.Ser727Ala) | dbSNP |
10 | g.110812742C>A | CA378373480 | RBM20 | c.2345C>A (p.Ser782Tyr) c.1961C>A (p.Ser654Tyr) c.2180C>A (p.Ser727Tyr) | |
10 | g.110812742C>G | CA378373483 | RBM20 | c.2345C>G (p.Ser782Cys) c.1961C>G (p.Ser654Cys) c.2180C>G (p.Ser727Cys) | |
10 | g.110812742C>T | CA378373486 | RBM20 | c.2345C>T (p.Ser782Phe) c.1961C>T (p.Ser654Phe) c.2180C>T (p.Ser727Phe) | COSMIC |
10 | g.110812743C>A | CA471506970 | RBM20 | c.2346C>A (p.Ser782=) c.1962C>A (p.Ser654=) c.2181C>A (p.Ser727=) | |
10 | g.110812743C>G | CA213224228 | RBM20 | c.2346C>G (p.Ser782=) c.1962C>G (p.Ser654=) c.2181C>G (p.Ser727=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812743C>T | CA471506971 | RBM20 | c.2346C>T (p.Ser782=) c.1962C>T (p.Ser654=) c.2181C>T (p.Ser727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812744A= | CA2844626834 | RBM20 | c.2347A= (p.Arg783=) c.1963A= (p.Arg655=) c.2182A= (p.Arg728=) | |
10 | g.110812744A>C | CA471506972 | RBM20 | c.2347A>C (p.Arg783=) c.1963A>C (p.Arg655=) c.2182A>C (p.Arg728=) | |
10 | g.110812744A>G | CA378373490 | RBM20 | c.2347A>G (p.Arg783Gly) c.1963A>G (p.Arg655Gly) c.2182A>G (p.Arg728Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812744A>T | CA378373491 | RBM20 | c.2347A>T (p.Arg783Trp) c.1963A>T (p.Arg655Trp) c.2182A>T (p.Arg728Trp) | gnomAD v4 |
10 | g.110812745G>A | CA378373493 | RBM20 | c.2348G>A (p.Arg783Lys) c.1964G>A (p.Arg655Lys) c.2183G>A (p.Arg728Lys) | gnomAD v4 |
10 | g.110812745G>C | CA378373494 | RBM20 | c.2348G>C (p.Arg783Thr) c.1964G>C (p.Arg655Thr) c.2183G>C (p.Arg728Thr) | |
10 | g.110812745G>T | CA378373498 | RBM20 | c.2348G>T (p.Arg783Met) c.1964G>T (p.Arg655Met) c.2183G>T (p.Arg728Met) | |
10 | g.110812746G>A | CA471506980 | RBM20 | c.2349G>A (p.Arg783=) c.1965G>A (p.Arg655=) c.2184G>A (p.Arg728=) | |
10 | g.110812746G>C | CA378373501 | RBM20 | c.2349G>C (p.Arg783Ser) c.1965G>C (p.Arg655Ser) c.2184G>C (p.Arg728Ser) | gnomAD v4 |
10 | g.110812746G>T | CA378373503 | RBM20 | c.2349G>T (p.Arg783Ser) c.1965G>T (p.Arg655Ser) c.2184G>T (p.Arg728Ser) | |
10 | g.110812747A>C | CA471506981 | RBM20 | c.2350A>C (p.Arg784=) c.1966A>C (p.Arg656=) c.2185A>C (p.Arg729=) | |
10 | g.110812747A>G | CA378373505 | RBM20 | c.2350A>G (p.Arg784Gly) c.1966A>G (p.Arg656Gly) c.2185A>G (p.Arg729Gly) | gnomAD v4 |
10 | g.110812747A>T | CA378373510 | RBM20 | c.2350A>T (p.Arg784Trp) c.1966A>T (p.Arg656Trp) c.2185A>T (p.Arg729Trp) | |
10 | g.110812747_110812748delinsGT | CA2497307632 | RBM20 | c.2350_2351delinsGT (p.Arg784Val) c.1966_1967delinsGT (p.Arg656Val) c.2185_2186delinsGT (p.Arg729Val) | ClinVar dbSNP |
10 | g.110812748G>A | CA378373514 | RBM20 | c.2351G>A (p.Arg784Lys) c.1967G>A (p.Arg656Lys) c.2186G>A (p.Arg729Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812748G>C | CA378373517 | RBM20 | c.2351G>C (p.Arg784Thr) c.1967G>C (p.Arg656Thr) c.2186G>C (p.Arg729Thr) | |
10 | g.110812748G>T | CA378373519 | RBM20 | c.2351G>T (p.Arg784Met) c.1967G>T (p.Arg656Met) c.2186G>T (p.Arg729Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812749G>A | CA471506989 | RBM20 | c.2352G>A (p.Arg784=) c.1968G>A (p.Arg656=) c.2187G>A (p.Arg729=) | COSMIC |
10 | g.110812749G>C | CA378373520 | RBM20 | c.2352G>C (p.Arg784Ser) c.1968G>C (p.Arg656Ser) c.2187G>C (p.Arg729Ser) | gnomAD v4 |
10 | g.110812749G>T | CA378373523 | RBM20 | c.2352G>T (p.Arg784Ser) c.1968G>T (p.Arg656Ser) c.2187G>T (p.Arg729Ser) | |
10 | g.110812750A>C | CA378373528 | RBM20 | c.2353A>C (p.Lys785Gln) c.1969A>C (p.Lys657Gln) c.2188A>C (p.Lys730Gln) | |
10 | g.110812750A>G | CA378373529 | RBM20 | c.2353A>G (p.Lys785Glu) c.1969A>G (p.Lys657Glu) c.2188A>G (p.Lys730Glu) | gnomAD v4 |
10 | g.110812750A>T | CA378373532 | RBM20 | c.2353A>T (p.Lys785Ter) c.1969A>T (p.Lys657Ter) c.2188A>T (p.Lys730Ter) | |
10 | g.110812752dup | CA2843276062 | RBM20 | c.2355dup (p.Asp786ArgfsTer15) c.1971dup (p.Asp658ArgfsTer15) c.2190dup (p.Asp731ArgfsTer15) | |
10 | g.110812751A>C | CA378373534 | RBM20 | c.2354A>C (p.Lys785Thr) c.1970A>C (p.Lys657Thr) c.2189A>C (p.Lys730Thr) | |
10 | g.110812751A>G | CA378373535 | RBM20 | c.2354A>G (p.Lys785Arg) c.1970A>G (p.Lys657Arg) c.2189A>G (p.Lys730Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812751A>T | CA378373536 | RBM20 | c.2354A>T (p.Lys785Ile) c.1970A>T (p.Lys657Ile) c.2189A>T (p.Lys730Ile) | |
10 | g.110812752A>C | CA378373537 | RBM20 | c.2355A>C (p.Lys785Asn) c.1971A>C (p.Lys657Asn) c.2190A>C (p.Lys730Asn) | |
10 | g.110812752A>G | CA471507003 | RBM20 | c.2355A>G (p.Lys785=) c.1971A>G (p.Lys657=) c.2190A>G (p.Lys730=) | |
10 | g.110812752A>T | CA378373539 | RBM20 | c.2355A>T (p.Lys785Asn) c.1971A>T (p.Lys657Asn) c.2190A>T (p.Lys730Asn) | |
10 | g.110812753G>A | CA378373546 | RBM20 | c.2356G>A (p.Asp786Asn) c.1972G>A (p.Asp658Asn) c.2191G>A (p.Asp731Asn) | |
10 | g.110812753G>C | CA378373550 | RBM20 | c.2356G>C (p.Asp786His) c.1972G>C (p.Asp658His) c.2191G>C (p.Asp731His) | |
10 | g.110812753G>T | CA378373548 | RBM20 | c.2356G>T (p.Asp786Tyr) c.1972G>T (p.Asp658Tyr) c.2191G>T (p.Asp731Tyr) | |
10 | g.110812754A>C | CA378373552 | RBM20 | c.2357A>C (p.Asp786Ala) c.1973A>C (p.Asp658Ala) c.2192A>C (p.Asp731Ala) | |
10 | g.110812754A>G | CA177702 | RBM20 | c.2357A>G (p.Asp786Gly) c.1973A>G (p.Asp658Gly) c.2192A>G (p.Asp731Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812754A>T | CA378373553 | RBM20 | c.2357A>T (p.Asp786Val) c.1973A>T (p.Asp658Val) c.2192A>T (p.Asp731Val) | |
10 | g.110812755C>A | CA378373555 | RBM20 | c.2358C>A (p.Asp786Glu) c.1974C>A (p.Asp658Glu) c.2193C>A (p.Asp731Glu) | ClinVar dbSNP gnomAD v4 |
10 | g.110812755C>G | CA378373557 | RBM20 | c.2358C>G (p.Asp786Glu) c.1974C>G (p.Asp658Glu) c.2193C>G (p.Asp731Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812755C>T | CA16605805 | RBM20 | c.2358C>T (p.Asp786=) c.1974C>T (p.Asp658=) c.2193C>T (p.Asp731=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812756G>A | CA10587691 | RBM20 | c.2359G>A (p.Glu787Lys) c.1975G>A (p.Glu659Lys) c.2194G>A (p.Glu732Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812756G>C | CA378373559 | RBM20 | c.2359G>C (p.Glu787Gln) c.1975G>C (p.Glu659Gln) c.2194G>C (p.Glu732Gln) | gnomAD v4 |
10 | g.110812756G>T | CA378373561 | RBM20 | c.2359G>T (p.Glu787Ter) c.1975G>T (p.Glu659Ter) c.2194G>T (p.Glu732Ter) | |
10 | g.110812757A>C | CA378373563 | RBM20 | c.2360A>C (p.Glu787Ala) c.1976A>C (p.Glu659Ala) c.2195A>C (p.Glu732Ala) | |
10 | g.110812757A>G | CA378373565 | RBM20 | c.2360A>G (p.Glu787Gly) c.1976A>G (p.Glu659Gly) c.2195A>G (p.Glu732Gly) | ClinVar dbSNP |
10 | g.110812757A>T | CA378373566 | RBM20 | c.2360A>T (p.Glu787Val) c.1976A>T (p.Glu659Val) c.2195A>T (p.Glu732Val) | |
10 | g.110812758G>A | CA471507011 | RBM20 | c.2361G>A (p.Glu787=) c.1977G>A (p.Glu659=) c.2196G>A (p.Glu732=) | |
10 | g.110812758G>C | CA378373569 | RBM20 | c.2361G>C (p.Glu787Asp) c.1977G>C (p.Glu659Asp) c.2196G>C (p.Glu732Asp) | ClinVar |
10 | g.110812758G>T | CA378373568 | RBM20 | c.2361G>T (p.Glu787Asp) c.1977G>T (p.Glu659Asp) c.2196G>T (p.Glu732Asp) | |
10 | g.110812759G>A | CA5688687 | RBM20 | c.2362G>A (p.Ala788Thr) c.1978G>A (p.Ala660Thr) c.2197G>A (p.Ala733Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812759G>C | CA378373570 | RBM20 | c.2362G>C (p.Ala788Pro) c.1978G>C (p.Ala660Pro) c.2197G>C (p.Ala733Pro) | |
10 | g.110812759G>T | CA5688686 | RBM20 | c.2362G>T (p.Ala788Ser) c.1978G>T (p.Ala660Ser) c.2197G>T (p.Ala733Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812760C>A | CA378373572 | RBM20 | c.2363C>A (p.Ala788Asp) c.1979C>A (p.Ala660Asp) c.2198C>A (p.Ala733Asp) | |
10 | g.110812760C>G | CA378373574 | RBM20 | c.2363C>G (p.Ala788Gly) c.1979C>G (p.Ala660Gly) c.2198C>G (p.Ala733Gly) | |
10 | g.110812760C>T | CA378373575 | RBM20 | c.2363C>T (p.Ala788Val) c.1979C>T (p.Ala660Val) c.2198C>T (p.Ala733Val) | |
10 | g.110812761C>A | CA471507022 | RBM20 | c.2364C>A (p.Ala788=) c.1980C>A (p.Ala660=) c.2199C>A (p.Ala733=) | |
10 | g.110812761C>G | CA471507023 | RBM20 | c.2364C>G (p.Ala788=) c.1980C>G (p.Ala660=) c.2199C>G (p.Ala733=) | |
10 | g.110812761C>T | CA471507024 | RBM20 | c.2364C>T (p.Ala788=) c.1980C>T (p.Ala660=) c.2199C>T (p.Ala733=) | |
10 | g.110812762A>C | CA471507025 | RBM20 | c.2365A>C (p.Arg789=) c.1981A>C (p.Arg661=) c.2200A>C (p.Arg734=) | |
10 | g.110812762A>G | CA378373576 | RBM20 | c.2365A>G (p.Arg789Gly) c.1981A>G (p.Arg661Gly) c.2200A>G (p.Arg734Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812762A>T | CA378373577 | RBM20 | c.2365A>T (p.Arg789Trp) c.1981A>T (p.Arg661Trp) c.2200A>T (p.Arg734Trp) | |
10 | g.110812763G>A | CA378373579 | RBM20 | c.2366G>A (p.Arg789Lys) c.1982G>A (p.Arg661Lys) c.2201G>A (p.Arg734Lys) | gnomAD v4 |
10 | g.110812763G>C | CA378373581 | RBM20 | c.2366G>C (p.Arg789Thr) c.1982G>C (p.Arg661Thr) c.2201G>C (p.Arg734Thr) | |
10 | g.110812763G>T | CA378373580 | RBM20 | c.2366G>T (p.Arg789Met) c.1982G>T (p.Arg661Met) c.2201G>T (p.Arg734Met) | |
10 | g.110812764G>A | CA471507031 | RBM20 | c.2367G>A (p.Arg789=) c.1983G>A (p.Arg661=) c.2202G>A (p.Arg734=) | ClinVar |
10 | g.110812764G>C | CA378373587 | RBM20 | c.2367G>C (p.Arg789Ser) c.1983G>C (p.Arg661Ser) c.2202G>C (p.Arg734Ser) | |
10 | g.110812764G>T | CA378373589 | RBM20 | c.2367G>T (p.Arg789Ser) c.1983G>T (p.Arg661Ser) c.2202G>T (p.Arg734Ser) | |
10 | g.110812765C>A | CA378373591 | RBM20 | c.2368C>A (p.Leu790Met) c.1984C>A (p.Leu662Met) c.2203C>A (p.Leu735Met) | |
10 | g.110812765C>G | CA378373594 | RBM20 | c.2368C>G (p.Leu790Val) c.1984C>G (p.Leu662Val) c.2203C>G (p.Leu735Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812765C>T | CA471507034 | RBM20 | c.2368C>T (p.Leu790=) c.1984C>T (p.Leu662=) c.2203C>T (p.Leu735=) | ClinVar gnomAD v4 |
10 | g.110812766T>A | CA378373600 | RBM20 | c.2369T>A (p.Leu790Gln) c.1985T>A (p.Leu662Gln) c.2204T>A (p.Leu735Gln) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812766T>C | CA378373596 | RBM20 | c.2369T>C (p.Leu790Pro) c.1985T>C (p.Leu662Pro) c.2204T>C (p.Leu735Pro) | |
10 | g.110812766T>G | CA378373598 | RBM20 | c.2369T>G (p.Leu790Arg) c.1985T>G (p.Leu662Arg) c.2204T>G (p.Leu735Arg) | gnomAD v4 |
10 | g.110812767G>A | CA471507037 | RBM20 | c.2370G>A (p.Leu790=) c.1986G>A (p.Leu662=) c.2205G>A (p.Leu735=) | ClinVar |
10 | g.110812767G>C | CA471507038 | RBM20 | c.2370G>C (p.Leu790=) c.1986G>C (p.Leu662=) c.2205G>C (p.Leu735=) | |
10 | g.110812767G>T | CA471507039 | RBM20 | c.2370G>T (p.Leu790=) c.1986G>T (p.Leu662=) c.2205G>T (p.Leu735=) | |
10 | g.110812768C>A | CA471507041 | RBM20 | c.2371C>A (p.Arg791=) c.1987C>A (p.Arg663=) c.2206C>A (p.Arg736=) | |
10 | g.110812768C>G | CA213224265 | RBM20 | c.2371C>G (p.Arg791Gly) c.1987C>G (p.Arg663Gly) c.2206C>G (p.Arg736Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.110812768C>T | CA213224276 | RBM20 | c.2371C>T (p.Arg791Trp) c.1987C>T (p.Arg663Trp) c.2206C>T (p.Arg736Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812769G>A | CA213224285 | RBM20 | c.2372G>A (p.Arg791Gln) c.1988G>A (p.Arg663Gln) c.2207G>A (p.Arg736Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812769G>C | CA378373608 | RBM20 | c.2372G>C (p.Arg791Pro) c.1988G>C (p.Arg663Pro) c.2207G>C (p.Arg736Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812769G>T | CA5688688 | RBM20 | c.2372G>T (p.Arg791Leu) c.1988G>T (p.Arg663Leu) c.2207G>T (p.Arg736Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812771dup | CA2574667537 | RBM20 | c.2374dup (p.Glu792GlyfsTer9) c.1990dup (p.Glu664GlyfsTer9) c.2209dup (p.Glu737GlyfsTer9) | ClinVar gnomAD v4 |
10 | g.110812771del | CA2610892826 | RBM20 | c.2374del (p.Glu792LysfsTer?) c.1990del (p.Glu664LysfsTer?) c.2209del (p.Glu737LysfsTer?) | gnomAD v4 |
10 | g.110812770_110812771del | CA2610892825 | RBM20 | c.2373_2374del (p.Glu792LysfsTer8) c.1989_1990del (p.Glu664LysfsTer8) c.2208_2209del (p.Glu737LysfsTer8) | gnomAD v4 |
10 | g.110812770G>A | CA213224290 | RBM20 | c.2373G>A (p.Arg791=) c.1989G>A (p.Arg663=) c.2208G>A (p.Arg736=) | dbSNP |
10 | g.110812770G>C | CA471507044 | RBM20 | c.2373G>C (p.Arg791=) c.1989G>C (p.Arg663=) c.2208G>C (p.Arg736=) | |
10 | g.110812770G>T | CA471507045 | RBM20 | c.2373G>T (p.Arg791=) c.1989G>T (p.Arg663=) c.2208G>T (p.Arg736=) | |
10 | g.110812771G>A | CA378373612 | RBM20 | c.2374G>A (p.Glu792Lys) c.1990G>A (p.Glu664Lys) c.2209G>A (p.Glu737Lys) | ClinVar dbSNP |
10 | g.110812771G>C | CA378373613 | RBM20 | c.2374G>C (p.Glu792Gln) c.1990G>C (p.Glu664Gln) c.2209G>C (p.Glu737Gln) | |
10 | g.110812771G>T | CA378373614 | RBM20 | c.2374G>T (p.Glu792Ter) c.1990G>T (p.Glu664Ter) c.2209G>T (p.Glu737Ter) | |
10 | g.110812772A>C | CA378373615 | RBM20 | c.2375A>C (p.Glu792Ala) c.1991A>C (p.Glu664Ala) c.2210A>C (p.Glu737Ala) | |
10 | g.110812772A>G | CA378373617 | RBM20 | c.2375A>G (p.Glu792Gly) c.1991A>G (p.Glu664Gly) c.2210A>G (p.Glu737Gly) | |
10 | g.110812772A>T | CA378373618 | RBM20 | c.2375A>T (p.Glu792Val) c.1991A>T (p.Glu664Val) c.2210A>T (p.Glu737Val) | |
10 | g.110812773A>C | CA378373621 | RBM20 | c.2376A>C (p.Glu792Asp) c.1992A>C (p.Glu664Asp) c.2211A>C (p.Glu737Asp) | |
10 | g.110812773A>G | CA471507049 | RBM20 | c.2376A>G (p.Glu792=) c.1992A>G (p.Glu664=) c.2211A>G (p.Glu737=) | |
10 | g.110812773A>T | CA378373623 | RBM20 | c.2376A>T (p.Glu792Asp) c.1992A>T (p.Glu664Asp) c.2211A>T (p.Glu737Asp) | |
10 | g.110812774A>C | CA378373624 | RBM20 | c.2377A>C (p.Ser793Arg) c.1993A>C (p.Ser665Arg) c.2212A>C (p.Ser738Arg) | |
10 | g.110812774A>G | CA378373626 | RBM20 | c.2377A>G (p.Ser793Gly) c.1993A>G (p.Ser665Gly) c.2212A>G (p.Ser738Gly) | |
10 | g.110812774A>T | CA378373625 | RBM20 | c.2377A>T (p.Ser793Cys) c.1993A>T (p.Ser665Cys) c.2212A>T (p.Ser738Cys) | |
10 | g.110812775G>A | CA378373627 | RBM20 | c.2378G>A (p.Ser793Asn) c.1994G>A (p.Ser665Asn) c.2213G>A (p.Ser738Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812775G>C | CA378373629 | RBM20 | c.2378G>C (p.Ser793Thr) c.1994G>C (p.Ser665Thr) c.2213G>C (p.Ser738Thr) | |
10 | g.110812775G>T | CA378373631 | RBM20 | c.2378G>T (p.Ser793Ile) c.1994G>T (p.Ser665Ile) c.2213G>T (p.Ser738Ile) | |
10 | g.110812776C>A | CA378373635 | RBM20 | c.2379C>A (p.Ser793Arg) c.1995C>A (p.Ser665Arg) c.2214C>A (p.Ser738Arg) | |
10 | g.110812776C>G | CA378373639 | RBM20 | c.2379C>G (p.Ser793Arg) c.1995C>G (p.Ser665Arg) c.2214C>G (p.Ser738Arg) | |
10 | g.110812776C>T | CA471507052 | RBM20 | c.2379C>T (p.Ser793=) c.1995C>T (p.Ser665=) c.2214C>T (p.Ser738=) | |
10 | g.110812777A>C | CA471507055 | RBM20 | c.2380A>C (p.Arg794=) c.1996A>C (p.Arg666=) c.2215A>C (p.Arg739=) | |
10 | g.110812777A>G | CA378373641 | RBM20 | c.2380A>G (p.Arg794Gly) c.1996A>G (p.Arg666Gly) c.2215A>G (p.Arg739Gly) | |
10 | g.110812777A>T | CA378373642 | RBM20 | c.2380A>T (p.Arg794Ter) c.1996A>T (p.Arg666Ter) c.2215A>T (p.Arg739Ter) | |
10 | g.110812778G>A | CA213224295 | RBM20 | c.2381G>A (p.Arg794Lys) c.1997G>A (p.Arg666Lys) c.2216G>A (p.Arg739Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812778G>C | CA378373644 | RBM20 | c.2381G>C (p.Arg794Thr) c.1997G>C (p.Arg666Thr) c.2216G>C (p.Arg739Thr) | ClinVar dbSNP |
10 | g.110812778G>T | CA378373663 | RBM20 | c.2381G>T (p.Arg794Ile) c.1997G>T (p.Arg666Ile) c.2216G>T (p.Arg739Ile) | |
10 | g.110812779A>C | CA213224300 | RBM20 | c.2382A>C (p.Arg794Ser) c.1998A>C (p.Arg666Ser) c.2217A>C (p.Arg739Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812779A>G | CA471507061 | RBM20 | c.2382A>G (p.Arg794=) c.1998A>G (p.Arg666=) c.2217A>G (p.Arg739=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812779A>T | CA378373667 | RBM20 | c.2382A>T (p.Arg794Ser) c.1998A>T (p.Arg666Ser) c.2217A>T (p.Arg739Ser) | |
10 | g.110812779_110812790dup | CA932526958 | RBM20 | c.2382_2393dup (p.Pro798_Asp799insHisProHisPro) c.1998_2009dup (p.Pro670_Asp671insHisProHisPro) c.2217_2228dup (p.Pro743_Asp744insHisProHisPro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812780C>A | CA378373675 | RBM20 | c.2383C>A (p.His795Asn) c.1999C>A (p.His667Asn) c.2218C>A (p.His740Asn) | ClinVar dbSNP gnomAD v4 |
10 | g.110812780C>G | CA378373673 | RBM20 | c.2383C>G (p.His795Asp) c.1999C>G (p.His667Asp) c.2218C>G (p.His740Asp) | |
10 | g.110812780C>T | CA378373670 | RBM20 | c.2383C>T (p.His795Tyr) c.1999C>T (p.His667Tyr) c.2218C>T (p.His740Tyr) | |
10 | g.110812781A>C | CA378373679 | RBM20 | c.2384A>C (p.His795Pro) c.2000A>C (p.His667Pro) c.2219A>C (p.His740Pro) | dbSNP |
10 | g.110812781A>G | CA378373682 | RBM20 | c.2384A>G (p.His795Arg) c.2000A>G (p.His667Arg) c.2219A>G (p.His740Arg) | |
10 | g.110812781A>T | CA378373685 | RBM20 | c.2384A>T (p.His795Leu) c.2000A>T (p.His667Leu) c.2219A>T (p.His740Leu) | gnomAD v4 |
10 | g.110812782C>A | CA378373687 | RBM20 | c.2385C>A (p.His795Gln) c.2001C>A (p.His667Gln) c.2220C>A (p.His740Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812782C>G | CA378373688 | RBM20 | c.2385C>G (p.His795Gln) c.2001C>G (p.His667Gln) c.2220C>G (p.His740Gln) | |
10 | g.110812782C>T | CA5688689 | RBM20 | c.2385C>T (p.His795=) c.2001C>T (p.His667=) c.2220C>T (p.His740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812786del | CA471507071 | RBM20 | c.2389del (p.His797IlefsTer?) c.2005del (p.His669IlefsTer?) c.2224del (p.His742IlefsTer?) | COSMIC |