Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152101034_152101041delinsGTTTTTTT | CA1673177168 | ESR1 | c.*2068_*2075delinsGTTTTTTT (n.*2068_*2075delinsGTTTTTTT) n.1070+2114_1070+2121delinsGTTTTTTT c.851-24232_851-24225delinsGTTTTTTT (n.851-24232_851-24225delinsGTTTTTTT) c.*2271_*2278delinsGTTTTTTT (n.*2271_*2278delinsGTTTTTTT) | |
6 | g.152101034_152101043del | CA2532087129 | ESR1 | c.*2068_*2077del (n.*2068_*2077del) n.1070+2114_1070+2123del c.851-24232_851-24223del (n.851-24232_851-24223del) c.*2271_*2280del (n.*2271_*2280del) | |
6 | g.152101051_152101052insTTTTTTTTTTTTTTTTTTTTTT | CA1095919357 | ESR1 | c.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTT (n.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTT) n.1070+2131_1070+2132insTTTTTTTTTTTTTTTTTTTTTT c.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTT (n.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTT) c.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTT (n.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTT) | dbSNP |
6 | g.152101051_152101052insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919355 | ESR1 | c.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2131_1070+2132insTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
6 | g.152101051_152101052insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919353 | ESR1 | c.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2131_1070+2132insTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
6 | g.152101051_152101052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919347 | ESR1 | c.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2085_*2086insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2131_1070+2132insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24215_851-24214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2288_*2289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
6 | g.152101051_152101052insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT | CA1095919342 | ESR1 | c.*2085_*2086insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT (n.*2085_*2086insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT) n.1070+2131_1070+2132insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT c.851-24215_851-24214insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT (n.851-24215_851-24214insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT) c.*2288_*2289insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT (n.*2288_*2289insTTTTTTTTTTTAAATTGAAAAAAACAAGGAAAAATATTTATTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101051dup | CA150175959 | ESR1 | c.*2085dup (n.*2085dup) n.1070+2131dup c.851-24215dup (n.851-24215dup) c.*2288dup (n.*2288dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101050_152101051dup | CA571117864 | ESR1 | c.*2084_*2085dup (n.*2084_*2085dup) n.1070+2130_1070+2131dup c.851-24216_851-24215dup (n.851-24216_851-24215dup) c.*2287_*2288dup (n.*2287_*2288dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101049_152101051dup | CA1095919363 | ESR1 | c.*2083_*2085dup (n.*2083_*2085dup) n.1070+2129_1070+2131dup c.851-24217_851-24215dup (n.851-24217_851-24215dup) c.*2286_*2288dup (n.*2286_*2288dup) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101048_152101051dup | CA1095919362 | ESR1 | c.*2082_*2085dup (n.*2082_*2085dup) n.1070+2128_1070+2131dup c.851-24218_851-24215dup (n.851-24218_851-24215dup) c.*2285_*2288dup (n.*2285_*2288dup) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101047_152101051dup | CA1095919360 | ESR1 | c.*2081_*2085dup (n.*2081_*2085dup) n.1070+2127_1070+2131dup c.851-24219_851-24215dup (n.851-24219_851-24215dup) c.*2284_*2288dup (n.*2284_*2288dup) | gnomAD v4 |
6 | g.152101046_152101051dup | CA2680807634 | ESR1 | c.*2080_*2085dup (n.*2080_*2085dup) n.1070+2126_1070+2131dup c.851-24220_851-24215dup (n.851-24220_851-24215dup) c.*2283_*2288dup (n.*2283_*2288dup) | gnomAD v4 |
6 | g.152101045_152101051dup | CA1673177172 | ESR1 | c.*2079_*2085dup (n.*2079_*2085dup) n.1070+2125_1070+2131dup c.851-24221_851-24215dup (n.851-24221_851-24215dup) c.*2282_*2288dup (n.*2282_*2288dup) | dbSNP |
6 | g.152101042_152101051dup | CA571117865 | ESR1 | c.*2076_*2085dup (n.*2076_*2085dup) n.1070+2122_1070+2131dup c.851-24224_851-24215dup (n.851-24224_851-24215dup) c.*2279_*2288dup (n.*2279_*2288dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101041_152101051dup | CA1095919358 | ESR1 | c.*2075_*2085dup (n.*2075_*2085dup) n.1070+2121_1070+2131dup c.851-24225_851-24215dup (n.851-24225_851-24215dup) c.*2278_*2288dup (n.*2278_*2288dup) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101039_152101051dup | CA1095919345 | ESR1 | c.*2073_*2085dup (n.*2073_*2085dup) n.1070+2119_1070+2131dup c.851-24227_851-24215dup (n.851-24227_851-24215dup) c.*2276_*2288dup (n.*2276_*2288dup) | gnomAD v3 gnomAD v4 |
6 | g.152101051del | CA150175960 | ESR1 | c.*2085del (n.*2085del) n.1070+2131del c.851-24215del (n.851-24215del) c.*2288del (n.*2288del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101050_152101051del | CA150175961 | ESR1 | c.*2084_*2085del (n.*2084_*2085del) n.1070+2130_1070+2131del c.851-24216_851-24215del (n.851-24216_851-24215del) c.*2287_*2288del (n.*2287_*2288del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101049_152101051del | CA1095919350 | ESR1 | c.*2083_*2085del (n.*2083_*2085del) n.1070+2129_1070+2131del c.851-24217_851-24215del (n.851-24217_851-24215del) c.*2286_*2288del (n.*2286_*2288del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101048_152101051del | CA1095919351 | ESR1 | c.*2082_*2085del (n.*2082_*2085del) n.1070+2128_1070+2131del c.851-24218_851-24215del (n.851-24218_851-24215del) c.*2285_*2288del (n.*2285_*2288del) | gnomAD v3 gnomAD v4 |
6 | g.152101047_152101051del | CA2531318053 | ESR1 | c.*2081_*2085del (n.*2081_*2085del) n.1070+2127_1070+2131del c.851-24219_851-24215del (n.851-24219_851-24215del) c.*2284_*2288del (n.*2284_*2288del) | |
6 | g.152101046_152101051del | CA1673177171 | ESR1 | c.*2080_*2085del (n.*2080_*2085del) n.1070+2126_1070+2131del c.851-24220_851-24215del (n.851-24220_851-24215del) c.*2283_*2288del (n.*2283_*2288del) | dbSNP gnomAD v4 |
6 | g.152101045_152101051del | CA820875469 | ESR1 | c.*2079_*2085del (n.*2079_*2085del) n.1070+2125_1070+2131del c.851-24221_851-24215del (n.851-24221_851-24215del) c.*2282_*2288del (n.*2282_*2288del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101041T>G | CA1095919370 | ESR1 | c.*2075T>G (n.*2075T>G) n.1070+2121T>G c.851-24225T>G (n.851-24225T>G) c.*2278T>G (n.*2278T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101041T= | CA1673177404 | ESR1 | c.*2075T= (n.*2075T=) n.1070+2121T= c.851-24225T= (n.851-24225T=) c.*2278T= (n.*2278T=) | |
6 | g.152101051_152101052insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT | CA1095919374 | ESR1 | c.*2085_*2086insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT (n.*2085_*2086insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT) n.1070+2131_1070+2132insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT c.851-24215_851-24214insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT (n.851-24215_851-24214insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT) c.*2288_*2289insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT (n.*2288_*2289insTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
6 | g.152101043T>A | CA150175962 | ESR1 | c.*2077T>A (n.*2077T>A) n.1070+2123T>A c.851-24223T>A (n.851-24223T>A) c.*2280T>A (n.*2280T>A) | dbSNP |
6 | g.152101043T>C | CA1673177408 | ESR1 | c.*2077T>C (n.*2077T>C) n.1070+2123T>C c.851-24223T>C (n.851-24223T>C) c.*2280T>C (n.*2280T>C) | dbSNP |
6 | g.152101043T= | CA1673177406 | ESR1 | c.*2077T= (n.*2077T=) n.1070+2123T= c.851-24223T= (n.851-24223T=) c.*2280T= (n.*2280T=) | |
6 | g.152101044T>C | CA2507215430 | ESR1 | c.*2078T>C (n.*2078T>C) n.1070+2124T>C c.851-24222T>C (n.851-24222T>C) c.*2281T>C (n.*2281T>C) | |
6 | g.152101050_152101052delinsTTG | CA1673177409 | ESR1 | c.*2084_*2086delinsTTG (n.*2084_*2086delinsTTG) n.1070+2130_1070+2132delinsTTG c.851-24216_851-24214delinsTTG (n.851-24216_851-24214delinsTTG) c.*2287_*2289delinsTTG (n.*2287_*2289delinsTTG) | |
6 | g.152101051T>C | CA1095919379 | ESR1 | c.*2085T>C (n.*2085T>C) n.1070+2131T>C c.851-24215T>C (n.851-24215T>C) c.*2288T>C (n.*2288T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101051T>G | CA820875478 | ESR1 | c.*2085T>G (n.*2085T>G) n.1070+2131T>G c.851-24215T>G (n.851-24215T>G) c.*2288T>G (n.*2288T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101051T= | CA1673177413 | ESR1 | c.*2085T= (n.*2085T=) n.1070+2131T= c.851-24215T= (n.851-24215T=) c.*2288T= (n.*2288T=) | |
6 | g.152101051_152101052insCT | CA2680807636 | ESR1 | c.*2085_*2086insCT (n.*2085_*2086insCT) n.1070+2131_1070+2132insCT c.851-24215_851-24214insCT (n.851-24215_851-24214insCT) c.*2288_*2289insCT (n.*2288_*2289insCT) | gnomAD v4 |
6 | g.152101051_152101052delinsTG | CA1673177411 | ESR1 | c.*2085_*2086delinsTG (n.*2085_*2086delinsTG) n.1070+2131_1070+2132delinsTG c.851-24215_851-24214delinsTG (n.851-24215_851-24214delinsTG) c.*2288_*2289delinsTG (n.*2288_*2289delinsTG) | |
6 | g.152101052_152101053del | CA820875481 | ESR1 | c.*2086_*2087del (n.*2086_*2087del) n.1070+2132_1070+2133del c.851-24214_851-24213del (n.851-24214_851-24213del) c.*2289_*2290del (n.*2289_*2290del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101052del | CA452746753 | ESR1 | c.*2086del (n.*2086del) n.1070+2132del c.851-24214del (n.851-24214del) c.*2289del (n.*2289del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101052G= | CA1673177417 | ESR1 | c.*2086G= (n.*2086G=) n.1070+2132G= c.851-24214G= (n.851-24214G=) c.*2289G= (n.*2289G=) | |
6 | g.152101052G>T | CA150175966 | ESR1 | c.*2086G>T (n.*2086G>T) n.1070+2132G>T c.851-24214G>T (n.851-24214G>T) c.*2289G>T (n.*2289G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.152101052_152101057del | CA571117867 | ESR1 | c.*2086_*2091del (n.*2086_*2091del) n.1070+2132_1070+2137del c.851-24214_851-24209del (n.851-24214_851-24209del) c.*2289_*2294del (n.*2289_*2294del) | gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101053T>C | CA1095919380 | ESR1 | c.*2087T>C (n.*2087T>C) n.1070+2133T>C c.851-24213T>C (n.851-24213T>C) c.*2290T>C (n.*2290T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101053T= | CA1673177423 | ESR1 | c.*2087T= (n.*2087T=) n.1070+2133T= c.851-24213T= (n.851-24213T=) c.*2290T= (n.*2290T=) | |
6 | g.152101053_152101057delinsTATAC | CA1673177422 | ESR1 | c.*2087_*2091delinsTATAC (n.*2087_*2091delinsTATAC) n.1070+2133_1070+2137delinsTATAC c.851-24213_851-24209delinsTATAC (n.851-24213_851-24209delinsTATAC) c.*2290_*2294delinsTATAC (n.*2290_*2294delinsTATAC) | |
6 | g.152101054A= | CA1673177425 | ESR1 | c.*2088A= (n.*2088A=) n.1070+2134A= c.851-24212A= (n.851-24212A=) c.*2291A= (n.*2291A=) | |
6 | g.152101054A>C | CA2516539069 | ESR1 | c.*2088A>C (n.*2088A>C) n.1070+2134A>C c.851-24212A>C (n.851-24212A>C) c.*2291A>C (n.*2291A>C) | |
6 | g.152101054A>G | CA820875486 | ESR1 | c.*2088A>G (n.*2088A>G) n.1070+2134A>G c.851-24212A>G (n.851-24212A>G) c.*2291A>G (n.*2291A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152101054A>T | CA571117869 | ESR1 | c.*2088A>T (n.*2088A>T) n.1070+2134A>T c.851-24212A>T (n.851-24212A>T) c.*2291A>T (n.*2291A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152101054_152101057del | CA571117868 | ESR1 | c.*2088_*2091del (n.*2088_*2091del) n.1070+2134_1070+2137del c.851-24212_851-24209del (n.851-24212_851-24209del) c.*2291_*2294del (n.*2291_*2294del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |