Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.29696822_29696827del | CA1024928142 | NF2 | c.*2020_*2025del (n.*2020_*2025del) c.*502-439_*502-434del (n.*502-439_*502-434del) c.*2080_*2085del (n.*2080_*2085del) c.*2095_*2100del (n.*2095_*2100del) n.4367_4372del n.4290_4295del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696810_29696824del | CA1024928173 | NF2 | c.*2008_*2022del (n.*2008_*2022del) c.*502-451_*502-437del (n.*502-451_*502-437del) c.*2068_*2082del (n.*2068_*2082del) c.*2083_*2097del (n.*2083_*2097del) n.4355_4369del n.4278_4292del | gnomAD v3 gnomAD v4 |
22 | g.29696816_29696825del | CA1024928241 | NF2 | c.*2014_*2023del (n.*2014_*2023del) c.*502-445_*502-436del (n.*502-445_*502-436del) c.*2074_*2083del (n.*2074_*2083del) c.*2089_*2098del (n.*2089_*2098del) n.4361_4370del n.4284_4293del | gnomAD v3 gnomAD v4 |
22 | g.29696819_29696824delinsTTTCTG | CA2400693233 | NF2 | c.*2017_*2022delinsTTTCTG (n.*2017_*2022delinsTTTCTG) c.*502-442_*502-437delinsTTTCTG (n.*502-442_*502-437delinsTTTCTG) c.*2077_*2082delinsTTTCTG (n.*2077_*2082delinsTTTCTG) c.*2092_*2097delinsTTTCTG (n.*2092_*2097delinsTTTCTG) n.4364_4369delinsTTTCTG n.4287_4292delinsTTTCTG | |
22 | g.29696822_29696826del | CA323129421 | NF2 | c.*2020_*2024del (n.*2020_*2024del) c.*502-439_*502-435del (n.*502-439_*502-435del) c.*2080_*2084del (n.*2080_*2084del) c.*2095_*2099del (n.*2095_*2099del) n.4367_4371del n.4290_4294del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696823_29696824delinsTG | CA2400693237 | NF2 | c.*2021_*2022delinsTG (n.*2021_*2022delinsTG) c.*502-438_*502-437delinsTG (n.*502-438_*502-437delinsTG) c.*2081_*2082delinsTG (n.*2081_*2082delinsTG) c.*2096_*2097delinsTG (n.*2096_*2097delinsTG) n.4368_4369delinsTG n.4291_4292delinsTG | |
22 | g.29696823_29696840delinsTGTTTTTTTTTTGAGATG | CA2400693238 | NF2 | c.*2021_*2038delinsTGTTTTTTTTTTGAGATG (n.*2021_*2038delinsTGTTTTTTTTTTGAGATG) c.*502-438_*502-421delinsTGTTTTTTTTTTGAGATG (n.*502-438_*502-421delinsTGTTTTTTTTTTGAGATG) c.*2081_*2098delinsTGTTTTTTTTTTGAGATG (n.*2081_*2098delinsTGTTTTTTTTTTGAGATG) c.*2096_*2113delinsTGTTTTTTTTTTGAGATG (n.*2096_*2113delinsTGTTTTTTTTTTGAGATG) n.4368_4385delinsTGTTTTTTTTTTGAGATG n.4291_4308delinsTGTTTTTTTTTTGAGATG | |
22 | g.29696824del | CA2400693241 | NF2 | c.*2022del (n.*2022del) c.*502-437del (n.*502-437del) c.*2082del (n.*2082del) c.*2097del (n.*2097del) n.4369del n.4292del | dbSNP gnomAD v4 |
22 | g.29696824G>C | CA752251671 | NF2 | c.*2022G>C (n.*2022G>C) c.*502-437G>C (n.*502-437G>C) c.*2082G>C (n.*2082G>C) c.*2097G>C (n.*2097G>C) n.4369G>C n.4292G>C | dbSNP |
22 | g.29696824G= | CA2400693240 | NF2 | c.*2022G= (n.*2022G=) c.*502-437G= (n.*502-437G=) c.*2082G= (n.*2082G=) c.*2097G= (n.*2097G=) n.4369G= n.4292G= | |
22 | g.29696824G>T | CA638997559 | NF2 | c.*2022G>T (n.*2022G>T) c.*502-437G>T (n.*502-437G>T) c.*2082G>T (n.*2082G>T) c.*2097G>T (n.*2097G>T) n.4369G>T n.4292G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696824_29696827delinsGTTT | CA2400693243 | NF2 | c.*2022_*2025delinsGTTT (n.*2022_*2025delinsGTTT) c.*502-437_*502-434delinsGTTT (n.*502-437_*502-434delinsGTTT) c.*2082_*2085delinsGTTT (n.*2082_*2085delinsGTTT) c.*2097_*2100delinsGTTT (n.*2097_*2100delinsGTTT) n.4369_4372delinsGTTT n.4292_4295delinsGTTT | |
22 | g.29696824_29696834delinsGTTTTTTTTTT | CA2400693239 | NF2 | c.*2022_*2032delinsGTTTTTTTTTT (n.*2022_*2032delinsGTTTTTTTTTT) c.*502-437_*502-427delinsGTTTTTTTTTT (n.*502-437_*502-427delinsGTTTTTTTTTT) c.*2082_*2092delinsGTTTTTTTTTT (n.*2082_*2092delinsGTTTTTTTTTT) c.*2097_*2107delinsGTTTTTTTTTT (n.*2097_*2107delinsGTTTTTTTTTT) n.4369_4379delinsGTTTTTTTTTT n.4292_4302delinsGTTTTTTTTTT | |
22 | g.29696825_29696841del | CA2400693242 | NF2 | c.*2023_*2039del (n.*2023_*2039del) c.*502-436_*502-420del (n.*502-436_*502-420del) c.*2083_*2099del (n.*2083_*2099del) c.*2098_*2114del (n.*2098_*2114del) n.4370_4386del n.4293_4309del | dbSNP |
22 | g.29696825_29696834del | CA1024928284 | NF2 | c.*2023_*2032del (n.*2023_*2032del) c.*502-436_*502-427del (n.*502-436_*502-427del) c.*2083_*2092del (n.*2083_*2092del) c.*2098_*2107del (n.*2098_*2107del) n.4370_4379del n.4293_4302del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696834dup | CA10653325 | NF2 | c.*2032dup (n.*2032dup) c.*502-427dup (n.*502-427dup) c.*2092dup (n.*2092dup) c.*2107dup (n.*2107dup) n.4379dup n.4302dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696833_29696834dup | CA10651023 | NF2 | c.*2031_*2032dup (n.*2031_*2032dup) c.*502-428_*502-427dup (n.*502-428_*502-427dup) c.*2091_*2092dup (n.*2091_*2092dup) c.*2106_*2107dup (n.*2106_*2107dup) n.4378_4379dup n.4301_4302dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696832_29696834dup | CA638997561 | NF2 | c.*2030_*2032dup (n.*2030_*2032dup) c.*502-429_*502-427dup (n.*502-429_*502-427dup) c.*2090_*2092dup (n.*2090_*2092dup) c.*2105_*2107dup (n.*2105_*2107dup) n.4377_4379dup n.4300_4302dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696831_29696834dup | CA2589750941 | NF2 | c.*2029_*2032dup (n.*2029_*2032dup) c.*502-430_*502-427dup (n.*502-430_*502-427dup) c.*2089_*2092dup (n.*2089_*2092dup) c.*2104_*2107dup (n.*2104_*2107dup) n.4376_4379dup n.4299_4302dup | gnomAD v3 gnomAD v4 |
22 | g.29696830_29696834dup | CA2552818723 | NF2 | c.*2028_*2032dup (n.*2028_*2032dup) c.*502-431_*502-427dup (n.*502-431_*502-427dup) c.*2088_*2092dup (n.*2088_*2092dup) c.*2103_*2107dup (n.*2103_*2107dup) n.4375_4379dup n.4298_4302dup | |
22 | g.29696828_29696834dup | CA2400693244 | NF2 | c.*2026_*2032dup (n.*2026_*2032dup) c.*502-433_*502-427dup (n.*502-433_*502-427dup) c.*2086_*2092dup (n.*2086_*2092dup) c.*2101_*2107dup (n.*2101_*2107dup) n.4373_4379dup n.4296_4302dup | dbSNP |
22 | g.29696825_29696834dup | CA920353782 | NF2 | c.*2023_*2032dup (n.*2023_*2032dup) c.*502-436_*502-427dup (n.*502-436_*502-427dup) c.*2083_*2092dup (n.*2083_*2092dup) c.*2098_*2107dup (n.*2098_*2107dup) n.4370_4379dup n.4293_4302dup | dbSNP |
22 | g.29696834del | CA1024928288 | NF2 | c.*2032del (n.*2032del) c.*502-427del (n.*502-427del) c.*2092del (n.*2092del) c.*2107del (n.*2107del) n.4379del n.4302del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696833_29696834del | CA2513240697 | NF2 | c.*2031_*2032del (n.*2031_*2032del) c.*502-428_*502-427del (n.*502-428_*502-427del) c.*2091_*2092del (n.*2091_*2092del) c.*2106_*2107del (n.*2106_*2107del) n.4378_4379del n.4301_4302del | gnomAD v4 |
22 | g.29696832_29696834del | CA1024928287 | NF2 | c.*2030_*2032del (n.*2030_*2032del) c.*502-429_*502-427del (n.*502-429_*502-427del) c.*2090_*2092del (n.*2090_*2092del) c.*2105_*2107del (n.*2105_*2107del) n.4377_4379del n.4300_4302del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696825_29696826insA | CA2656036056 | NF2 | c.*2023_*2024insA (n.*2023_*2024insA) c.*502-436_*502-435insA (n.*502-436_*502-435insA) c.*2083_*2084insA (n.*2083_*2084insA) c.*2098_*2099insA (n.*2098_*2099insA) n.4370_4371insA n.4293_4294insA | gnomAD v4 |
22 | g.29696829T= | CA2400693245 | NF2 | c.*2027T= (n.*2027T=) c.*502-432T= (n.*502-432T=) c.*2087T= (n.*2087T=) c.*2102T= (n.*2102T=) n.4374T= n.4297T= | |
22 | g.29696829_29696830insA | CA2400693246 | NF2 | c.*2027_*2028insA (n.*2027_*2028insA) c.*502-432_*502-431insA (n.*502-432_*502-431insA) c.*2087_*2088insA (n.*2087_*2088insA) c.*2102_*2103insA (n.*2102_*2103insA) n.4374_4375insA n.4297_4298insA | dbSNP |
22 | g.29696829_29696830insC | CA752251704 | NF2 | c.*2027_*2028insC (n.*2027_*2028insC) c.*502-432_*502-431insC (n.*502-432_*502-431insC) c.*2087_*2088insC (n.*2087_*2088insC) c.*2102_*2103insC (n.*2102_*2103insC) n.4374_4375insC n.4297_4298insC | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696831T= | CA2400693247 | NF2 | c.*2029T= (n.*2029T=) c.*502-430T= (n.*502-430T=) c.*2089T= (n.*2089T=) c.*2104T= (n.*2104T=) n.4376T= n.4299T= | |
22 | g.29696831_29696832insA | CA323129449 | NF2 | c.*2029_*2030insA (n.*2029_*2030insA) c.*502-430_*502-429insA (n.*502-430_*502-429insA) c.*2089_*2090insA (n.*2089_*2090insA) c.*2104_*2105insA (n.*2104_*2105insA) n.4376_4377insA n.4299_4300insA | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696832T>C | CA2400693249 | NF2 | c.*2030T>C (n.*2030T>C) c.*502-429T>C (n.*502-429T>C) c.*2090T>C (n.*2090T>C) c.*2105T>C (n.*2105T>C) n.4377T>C n.4300T>C | dbSNP |
22 | g.29696832T= | CA2400693248 | NF2 | c.*2030T= (n.*2030T=) c.*502-429T= (n.*502-429T=) c.*2090T= (n.*2090T=) c.*2105T= (n.*2105T=) n.4377T= n.4300T= | |
22 | g.29696834_29696835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG | CA2543062994 | NF2 | c.*2032_*2033insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG (n.*2032_*2033insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG) c.*502-427_*502-426insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG (n.*502-427_*502-426insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG) c.*2092_*2093insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG (n.*2092_*2093insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG) c.*2107_*2108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG (n.*2107_*2108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG) n.4379_4380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG n.4302_4303insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTG | |
22 | g.29696835G>C | CA1024928303 | NF2 | c.*2033G>C (n.*2033G>C) c.*502-426G>C (n.*502-426G>C) c.*2093G>C (n.*2093G>C) c.*2108G>C (n.*2108G>C) n.4380G>C n.4303G>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696835G= | CA2400693250 | NF2 | c.*2033G= (n.*2033G=) c.*502-426G= (n.*502-426G=) c.*2093G= (n.*2093G=) c.*2108G= (n.*2108G=) n.4380G= n.4303G= | |
22 | g.29696835G>T | CA638997562 | NF2 | c.*2033G>T (n.*2033G>T) c.*502-426G>T (n.*502-426G>T) c.*2093G>T (n.*2093G>T) c.*2108G>T (n.*2108G>T) n.4380G>T n.4303G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696835_29696838del | CA1024928300 | NF2 | c.*2033_*2036del (n.*2033_*2036del) c.*502-426_*502-423del (n.*502-426_*502-423del) c.*2093_*2096del (n.*2093_*2096del) c.*2108_*2111del (n.*2108_*2111del) n.4380_4383del n.4303_4306del | gnomAD v3 gnomAD v4 |
22 | g.29696837_29696838del | CA1024928299 | NF2 | c.*2035_*2036del (n.*2035_*2036del) c.*502-424_*502-423del (n.*502-424_*502-423del) c.*2095_*2096del (n.*2095_*2096del) c.*2110_*2111del (n.*2110_*2111del) n.4382_4383del n.4305_4306del | gnomAD v3 gnomAD v4 |
22 | g.29696836del | CA1024928324 | NF2 | c.*2034del (n.*2034del) c.*502-425del (n.*502-425del) c.*2094del (n.*2094del) c.*2109del (n.*2109del) n.4381del n.4304del | gnomAD v3 gnomAD v4 |
22 | g.29696836A>G | CA1024928331 | NF2 | c.*2034A>G (n.*2034A>G) c.*502-425A>G (n.*502-425A>G) c.*2094A>G (n.*2094A>G) c.*2109A>G (n.*2109A>G) n.4381A>G n.4304A>G | gnomAD v3 gnomAD v4 |
22 | g.29696836A>T | CA638997563 | NF2 | c.*2034A>T (n.*2034A>T) c.*502-425A>T (n.*502-425A>T) c.*2094A>T (n.*2094A>T) c.*2109A>T (n.*2109A>T) n.4381A>T n.4304A>T | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.29696836_29696843delinsAGATGGAG | CA2400693251 | NF2 | c.*2034_*2041delinsAGATGGAG (n.*2034_*2041delinsAGATGGAG) c.*502-425_*502-418delinsAGATGGAG (n.*502-425_*502-418delinsAGATGGAG) c.*2094_*2101delinsAGATGGAG (n.*2094_*2101delinsAGATGGAG) c.*2109_*2116delinsAGATGGAG (n.*2109_*2116delinsAGATGGAG) n.4381_4388delinsAGATGGAG n.4304_4311delinsAGATGGAG | |
22 | g.29696836_29696837insTTT | CA1024928356 | NF2 | c.*2034_*2035insTTT (n.*2034_*2035insTTT) c.*502-425_*502-424insTTT (n.*502-425_*502-424insTTT) c.*2094_*2095insTTT (n.*2094_*2095insTTT) c.*2109_*2110insTTT (n.*2109_*2110insTTT) n.4381_4382insTTT n.4304_4305insTTT | gnomAD v3 gnomAD v4 |
22 | g.29696837G>T | CA1024928360 | NF2 | c.*2035G>T (n.*2035G>T) c.*502-424G>T (n.*502-424G>T) c.*2095G>T (n.*2095G>T) c.*2110G>T (n.*2110G>T) n.4382G>T n.4305G>T | gnomAD v3 gnomAD v4 |
22 | g.29696837_29696843del | CA1024928365 | NF2 | c.*2035_*2041del (n.*2035_*2041del) c.*502-424_*502-418del (n.*502-424_*502-418del) c.*2095_*2101del (n.*2095_*2101del) c.*2110_*2116del (n.*2110_*2116del) n.4382_4388del n.4305_4311del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.29696838A>C | CA2656036058 | NF2 | c.*2036A>C (n.*2036A>C) c.*502-423A>C (n.*502-423A>C) c.*2096A>C (n.*2096A>C) c.*2111A>C (n.*2111A>C) n.4383A>C n.4306A>C | gnomAD v4 |
22 | g.29696838A>G | CA1024928388 | NF2 | c.*2036A>G (n.*2036A>G) c.*502-423A>G (n.*502-423A>G) c.*2096A>G (n.*2096A>G) c.*2111A>G (n.*2111A>G) n.4383A>G n.4306A>G | gnomAD v3 gnomAD v4 |
22 | g.29696838A>T | CA1024928411 | NF2 | c.*2036A>T (n.*2036A>T) c.*502-423A>T (n.*502-423A>T) c.*2096A>T (n.*2096A>T) c.*2111A>T (n.*2111A>T) n.4383A>T n.4306A>T | gnomAD v3 gnomAD v4 |
22 | g.29696838_29696839del | CA2656036057 | NF2 | c.*2036_*2037del (n.*2036_*2037del) c.*502-423_*502-422del (n.*502-423_*502-422del) c.*2096_*2097del (n.*2096_*2097del) c.*2111_*2112del (n.*2111_*2112del) n.4383_4384del n.4306_4307del | gnomAD v4 |