| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152101028T>A | CA571117862 | ESR1 | c.*2062T>A (n.*2062T>A) n.1070+2108T>A c.851-24238T>A (n.851-24238T>A) c.*2265T>A (n.*2265T>A) | dbSNP gnomAD v2 |
| 6 | g.152101028T>C | CA820875445 | ESR1 | c.*2062T>C (n.*2062T>C) n.1070+2108T>C c.851-24238T>C (n.851-24238T>C) c.*2265T>C (n.*2265T>C) | dbSNP |
| 6 | g.152101028T>G | CA1095919327 | ESR1 | c.*2062T>G (n.*2062T>G) n.1070+2108T>G c.851-24238T>G (n.851-24238T>G) c.*2265T>G (n.*2265T>G) | gnomAD v3 gnomAD v4 |
| 6 | g.152101028T= | CA1673177164 | ESR1 | c.*2062T= (n.*2062T=) n.1070+2108T= c.851-24238T= (n.851-24238T=) c.*2265T= (n.*2265T=) | |
| 6 | g.152101029A= | CA1673177165 | ESR1 | c.*2063A= (n.*2063A=) n.1070+2109A= c.851-24237A= (n.851-24237A=) c.*2266A= (n.*2266A=) | |
| 6 | g.152101029A>G | CA2547021981 | ESR1 | c.*2063A>G (n.*2063A>G) n.1070+2109A>G c.851-24237A>G (n.851-24237A>G) c.*2266A>G (n.*2266A>G) | |
| 6 | g.152101029A>T | CA1095919329 | ESR1 | c.*2063A>T (n.*2063A>T) n.1070+2109A>T c.851-24237A>T (n.851-24237A>T) c.*2266A>T (n.*2266A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101030_152101031insATA | CA2526680146 | ESR1 | c.*2064_*2065insATA (n.*2064_*2065insATA) n.1070+2110_1070+2111insATA c.851-24236_851-24235insATA (n.851-24236_851-24235insATA) c.*2267_*2268insATA (n.*2267_*2268insATA) | |
| 6 | g.152101031T>G | CA820875447 | ESR1 | c.*2065T>G (n.*2065T>G) n.1070+2111T>G c.851-24235T>G (n.851-24235T>G) c.*2268T>G (n.*2268T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101031T= | CA1673177166 | ESR1 | c.*2065T= (n.*2065T=) n.1070+2111T= c.851-24235T= (n.851-24235T=) c.*2268T= (n.*2268T=) | |
| 6 | g.152101033A>T | CA1095919331 | ESR1 | c.*2067A>T (n.*2067A>T) n.1070+2113A>T c.851-24233A>T (n.851-24233A>T) c.*2270A>T (n.*2270A>T) | gnomAD v3 gnomAD v4 |
| 6 | g.152101033_152101034del | CA2680807629 | ESR1 | c.*2067_*2068del (n.*2067_*2068del) n.1070+2113_1070+2114del c.851-24233_851-24232del (n.851-24233_851-24232del) c.*2270_*2271del (n.*2270_*2271del) | gnomAD v4 |
| 6 | g.152101033_152101034delinsAG | CA1673177167 | ESR1 | c.*2067_*2068delinsAG (n.*2067_*2068delinsAG) n.1070+2113_1070+2114delinsAG c.851-24233_851-24232delinsAG (n.851-24233_851-24232delinsAG) c.*2270_*2271delinsAG (n.*2270_*2271delinsAG) | |
| 6 | g.152101033_152101034insT | CA2680807630 | ESR1 | c.*2067_*2068insT (n.*2067_*2068insT) n.1070+2113_1070+2114insT c.851-24233_851-24232insT (n.851-24233_851-24232insT) c.*2270_*2271insT (n.*2270_*2271insT) | gnomAD v4 |
| 6 | g.152101033_152101034insTT | CA2680807632 | ESR1 | c.*2067_*2068insTT (n.*2067_*2068insTT) n.1070+2113_1070+2114insTT c.851-24233_851-24232insTT (n.851-24233_851-24232insTT) c.*2270_*2271insTT (n.*2270_*2271insTT) | gnomAD v4 |
| 6 | g.152101033_152101034insTTT | CA2680807633 | ESR1 | c.*2067_*2068insTTT (n.*2067_*2068insTTT) n.1070+2113_1070+2114insTTT c.851-24233_851-24232insTTT (n.851-24233_851-24232insTTT) c.*2270_*2271insTTT (n.*2270_*2271insTTT) | gnomAD v4 |
| 6 | g.152101033_152101034insTTTT | CA2680807631 | ESR1 | c.*2067_*2068insTTTT (n.*2067_*2068insTTTT) n.1070+2113_1070+2114insTTTT c.851-24233_851-24232insTTTT (n.851-24233_851-24232insTTTT) c.*2270_*2271insTTTT (n.*2270_*2271insTTTT) | gnomAD v4 |
| 6 | g.152101033_152101034insTACTATATAAG | CA2537707832 | ESR1 | c.*2067_*2068insTACTATATAAG (n.*2067_*2068insTACTATATAAG) n.1070+2113_1070+2114insTACTATATAAG c.851-24233_851-24232insTACTATATAAG (n.851-24233_851-24232insTACTATATAAG) c.*2270_*2271insTACTATATAAG (n.*2270_*2271insTACTATATAAG) | |
| 6 | g.152101034del | CA150175948 | ESR1 | c.*2068del (n.*2068del) n.1070+2114del c.851-24232del (n.851-24232del) c.*2271del (n.*2271del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101034G= | CA1673177169 | ESR1 | c.*2068G= (n.*2068G=) n.1070+2114G= c.851-24232G= (n.851-24232G=) c.*2271G= (n.*2271G=) | |
| 6 | g.152101034G>T | CA150175952 | ESR1 | c.*2068G>T (n.*2068G>T) n.1070+2114G>T c.851-24232G>T (n.851-24232G>T) c.*2271G>T (n.*2271G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101034_152101035del | CA651276731 | ESR1 | c.*2068_*2069del (n.*2068_*2069del) n.1070+2114_1070+2115del c.851-24232_851-24231del (n.851-24232_851-24231del) c.*2271_*2272del (n.*2271_*2272del) | COSMIC |
| 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.152101035T>C | CA2680807635 | ESR1 | c.*2069T>C (n.*2069T>C) n.1070+2115T>C c.851-24231T>C (n.851-24231T>C) c.*2272T>C (n.*2272T>C) | gnomAD v4 |
| 6 | g.152101035T>G | CA571117866 | ESR1 | c.*2069T>G (n.*2069T>G) n.1070+2115T>G c.851-24231T>G (n.851-24231T>G) c.*2272T>G (n.*2272T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101035T= | CA1673177170 | ESR1 | c.*2069T= (n.*2069T=) n.1070+2115T= c.851-24231T= (n.851-24231T=) c.*2272T= (n.*2272T=) | |
| 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.152101035_152101036insGCTTCTTAAACAAACTAAGGTGC | CA2508167289 | ESR1 | c.*2069_*2070insGCTTCTTAAACAAACTAAGGTGC (n.*2069_*2070insGCTTCTTAAACAAACTAAGGTGC) n.1070+2115_1070+2116insGCTTCTTAAACAAACTAAGGTGC c.851-24231_851-24230insGCTTCTTAAACAAACTAAGGTGC (n.851-24231_851-24230insGCTTCTTAAACAAACTAAGGTGC) c.*2272_*2273insGCTTCTTAAACAAACTAAGGTGC (n.*2272_*2273insGCTTCTTAAACAAACTAAGGTGC) |