UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152100964T>C | CA2680807621 | ESR1 | c.*1998T>C (n.*1998T>C) n.1070+2044T>C c.851-24302T>C (n.851-24302T>C) c.*2201T>C (n.*2201T>C) | gnomAD v4 |
| 6 | g.152100965G>A | CA1095919310 | ESR1 | c.*1999G>A (n.*1999G>A) n.1070+2045G>A c.851-24301G>A (n.851-24301G>A) c.*2202G>A (n.*2202G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152100965G= | CA1673177144 | ESR1 | c.*1999G= (n.*1999G=) n.1070+2045G= c.851-24301G= (n.851-24301G=) c.*2202G= (n.*2202G=) | |
| 6 | g.152100972G>A | CA571117859 | ESR1 | c.*2006G>A (n.*2006G>A) n.1070+2052G>A c.851-24294G>A (n.851-24294G>A) c.*2209G>A (n.*2209G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152100972G= | CA1673177145 | ESR1 | c.*2006G= (n.*2006G=) n.1070+2052G= c.851-24294G= (n.851-24294G=) c.*2209G= (n.*2209G=) | |
| 6 | g.152100973T>A | CA2773582344 | ESR1 | c.*2007T>A (n.*2007T>A) n.1070+2053T>A c.851-24293T>A (n.851-24293T>A) c.*2210T>A (n.*2210T>A) | |
| 6 | g.152100973T>G | CA1673177147 | ESR1 | c.*2007T>G (n.*2007T>G) n.1070+2053T>G c.851-24293T>G (n.851-24293T>G) c.*2210T>G (n.*2210T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152100973T= | CA1673177146 | ESR1 | c.*2007T= (n.*2007T=) n.1070+2053T= c.851-24293T= (n.851-24293T=) c.*2210T= (n.*2210T=) | |
| 6 | g.152100980G>T | CA2680807622 | ESR1 | c.*2014G>T (n.*2014G>T) n.1070+2060G>T c.851-24286G>T (n.851-24286G>T) c.*2217G>T (n.*2217G>T) | gnomAD v4 |
| 6 | g.152100982T>A | CA1673177149 | ESR1 | c.*2016T>A (n.*2016T>A) n.1070+2062T>A c.851-24284T>A (n.851-24284T>A) c.*2219T>A (n.*2219T>A) | dbSNP gnomAD v4 |
| 6 | g.152100982T= | CA1673177148 | ESR1 | c.*2016T= (n.*2016T=) n.1070+2062T= c.851-24284T= (n.851-24284T=) c.*2219T= (n.*2219T=) | |
| 6 | g.152100983C>T | CA651276709 | ESR1 | c.*2017C>T (n.*2017C>T) n.1070+2063C>T c.851-24283C>T (n.851-24283C>T) c.*2220C>T (n.*2220C>T) | COSMIC |
| 6 | g.152100984T>A | CA2680807623 | ESR1 | c.*2018T>A (n.*2018T>A) n.1070+2064T>A c.851-24282T>A (n.851-24282T>A) c.*2221T>A (n.*2221T>A) | gnomAD v4 |
| 6 | g.152100984T>G | CA150175876 | ESR1 | c.*2018T>G (n.*2018T>G) n.1070+2064T>G c.851-24282T>G (n.851-24282T>G) c.*2221T>G (n.*2221T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152100984T= | CA1673177150 | ESR1 | c.*2018T= (n.*2018T=) n.1070+2064T= c.851-24282T= (n.851-24282T=) c.*2221T= (n.*2221T=) | |
| 6 | g.152100992A= | CA1673177151 | ESR1 | c.*2026A= (n.*2026A=) n.1070+2072A= c.851-24274A= (n.851-24274A=) c.*2229A= (n.*2229A=) | |
| 6 | g.152100992A>C | CA1673177152 | ESR1 | c.*2026A>C (n.*2026A>C) n.1070+2072A>C c.851-24274A>C (n.851-24274A>C) c.*2229A>C (n.*2229A>C) | dbSNP gnomAD v4 |
| 6 | g.152100995T>G | CA1673177153 | ESR1 | c.*2029T>G (n.*2029T>G) n.1070+2075T>G c.851-24271T>G (n.851-24271T>G) c.*2232T>G (n.*2232T>G) | dbSNP |
| 6 | g.152100995T= | CA1673177154 | ESR1 | c.*2029T= (n.*2029T=) n.1070+2075T= c.851-24271T= (n.851-24271T=) c.*2232T= (n.*2232T=) | |
| 6 | g.152100999T>G | CA820875436 | ESR1 | c.*2033T>G (n.*2033T>G) n.1070+2079T>G c.851-24267T>G (n.851-24267T>G) c.*2236T>G (n.*2236T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152100999T= | CA1673177155 | ESR1 | c.*2033T= (n.*2033T=) n.1070+2079T= c.851-24267T= (n.851-24267T=) c.*2236T= (n.*2236T=) | |
| 6 | g.152101000G= | CA1673177156 | ESR1 | c.*2034G= (n.*2034G=) n.1070+2080G= c.851-24266G= (n.851-24266G=) c.*2237G= (n.*2237G=) | |
| 6 | g.152101000G>T | CA651276710 | ESR1 | c.*2034G>T (n.*2034G>T) n.1070+2080G>T c.851-24266G>T (n.851-24266G>T) c.*2237G>T (n.*2237G>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.152101003T>G | CA1673177158 | ESR1 | c.*2037T>G (n.*2037T>G) n.1070+2083T>G c.851-24263T>G (n.851-24263T>G) c.*2240T>G (n.*2240T>G) | dbSNP |
| 6 | g.152101003T= | CA1673177157 | ESR1 | c.*2037T= (n.*2037T=) n.1070+2083T= c.851-24263T= (n.851-24263T=) c.*2240T= (n.*2240T=) | |
| 6 | g.152101007C>A | CA1095919315 | ESR1 | c.*2041C>A (n.*2041C>A) n.1070+2087C>A c.851-24259C>A (n.851-24259C>A) c.*2244C>A (n.*2244C>A) | gnomAD v3 gnomAD v4 |
| 6 | g.152101009_152101011del | CA1095919316 | ESR1 | c.*2043_*2045del (n.*2043_*2045del) n.1070+2089_1070+2091del c.851-24257_851-24255del (n.851-24257_851-24255del) c.*2246_*2248del (n.*2246_*2248del) | gnomAD v3 gnomAD v4 |
| 6 | g.152101010G>A | CA2680807624 | ESR1 | c.*2044G>A (n.*2044G>A) n.1070+2090G>A c.851-24256G>A (n.851-24256G>A) c.*2247G>A (n.*2247G>A) | gnomAD v4 |
| 6 | g.152101010G>T | CA2680807625 | ESR1 | c.*2044G>T (n.*2044G>T) n.1070+2090G>T c.851-24256G>T (n.851-24256G>T) c.*2247G>T (n.*2247G>T) | gnomAD v4 |
| 6 | g.152101011C>A | CA1095919317 | ESR1 | c.*2045C>A (n.*2045C>A) n.1070+2091C>A c.851-24255C>A (n.851-24255C>A) c.*2248C>A (n.*2248C>A) | gnomAD v3 gnomAD v4 |
| 6 | g.152101016_152101017insAAAAAA | CA1095919319 | ESR1 | c.*2050_*2051insAAAAAA (n.*2050_*2051insAAAAAA) n.1070+2096_1070+2097insAAAAAA c.851-24250_851-24249insAAAAAA (n.851-24250_851-24249insAAAAAA) c.*2253_*2254insAAAAAA (n.*2253_*2254insAAAAAA) | gnomAD v3 gnomAD v4 |
| 6 | g.152101016del | CA2680807626 | ESR1 | c.*2050del (n.*2050del) n.1070+2096del c.851-24250del (n.851-24250del) c.*2253del (n.*2253del) | gnomAD v4 |
| 6 | g.152101013A= | CA1673177159 | ESR1 | c.*2047A= (n.*2047A=) n.1070+2093A= c.851-24253A= (n.851-24253A=) c.*2250A= (n.*2250A=) | |
| 6 | g.152101013A>G | CA150175882 | ESR1 | c.*2047A>G (n.*2047A>G) n.1070+2093A>G c.851-24253A>G (n.851-24253A>G) c.*2250A>G (n.*2250A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101013A>T | CA571117861 | ESR1 | c.*2047A>T (n.*2047A>T) n.1070+2093A>T c.851-24253A>T (n.851-24253A>T) c.*2250A>T (n.*2250A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101016A= | CA1673177160 | ESR1 | c.*2050A= (n.*2050A=) n.1070+2096A= c.851-24250A= (n.851-24250A=) c.*2253A= (n.*2253A=) | |
| 6 | g.152101016A>G | CA1673177161 | ESR1 | c.*2050A>G (n.*2050A>G) n.1070+2096A>G c.851-24250A>G (n.851-24250A>G) c.*2253A>G (n.*2253A>G) | dbSNP |
| 6 | g.152101017C>A | CA915393983 | ESR1 | c.*2051C>A (n.*2051C>A) n.1070+2097C>A c.851-24249C>A (n.851-24249C>A) c.*2254C>A (n.*2254C>A) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101017C>T | CA651276711 | ESR1 | c.*2051C>T (n.*2051C>T) n.1070+2097C>T c.851-24249C>T (n.851-24249C>T) c.*2254C>T (n.*2254C>T) | COSMIC |
| 6 | g.152101018C>A | CA915393984 | ESR1 | c.*2052C>A (n.*2052C>A) n.1070+2098C>A c.851-24248C>A (n.851-24248C>A) c.*2255C>A (n.*2255C>A) | gnomAD v2 gnomAD v4 |
| 6 | g.152101020A= | CA1673177162 | ESR1 | c.*2054A= (n.*2054A=) n.1070+2100A= c.851-24246A= (n.851-24246A=) c.*2257A= (n.*2257A=) | |
| 6 | g.152101020A>G | CA150175886 | ESR1 | c.*2054A>G (n.*2054A>G) n.1070+2100A>G c.851-24246A>G (n.851-24246A>G) c.*2257A>G (n.*2257A>G) | dbSNP |
| 6 | g.152101021G>A | CA915393985 | ESR1 | c.*2055G>A (n.*2055G>A) n.1070+2101G>A c.851-24245G>A (n.851-24245G>A) c.*2258G>A (n.*2258G>A) | gnomAD v2 |
| 6 | g.152101021G>C | CA2571300915 | ESR1 | c.*2055G>C (n.*2055G>C) n.1070+2101G>C c.851-24245G>C (n.851-24245G>C) c.*2258G>C (n.*2258G>C) | |
| 6 | g.152101022del | CA2713490000 | ESR1 | c.*2056del (n.*2056del) n.1070+2102del c.851-24244del (n.851-24244del) c.*2259del (n.*2259del) | dbSNP |
| 6 | g.152101022G>A | CA915393986 | ESR1 | c.*2056G>A (n.*2056G>A) n.1070+2102G>A c.851-24244G>A (n.851-24244G>A) c.*2259G>A (n.*2259G>A) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101022G>C | CA2530948909 | ESR1 | c.*2056G>C (n.*2056G>C) n.1070+2102G>C c.851-24244G>C (n.851-24244G>C) c.*2259G>C (n.*2259G>C) | gnomAD v4 |
| 6 | g.152101022G>T | CA2680807627 | ESR1 | c.*2056G>T (n.*2056G>T) n.1070+2102G>T c.851-24244G>T (n.851-24244G>T) c.*2259G>T (n.*2259G>T) | gnomAD v4 |
| 6 | g.152101023A= | CA1673177163 | ESR1 | c.*2057A= (n.*2057A=) n.1070+2103A= c.851-24243A= (n.851-24243A=) c.*2260A= (n.*2260A=) | |
| 6 | g.152101023A>T | CA150175942 | ESR1 | c.*2057A>T (n.*2057A>T) n.1070+2103A>T c.851-24243A>T (n.851-24243A>T) c.*2260A>T (n.*2260A>T) | dbSNP |
| 6 | g.152101024A>C | CA2680807628 | ESR1 | c.*2058A>C (n.*2058A>C) n.1070+2104A>C c.851-24242A>C (n.851-24242A>C) c.*2261A>C (n.*2261A>C) | gnomAD v4 |
| 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) | |
| 6 | g.152101036T>G | CA2536949397 | ESR1 | c.*2070T>G (n.*2070T>G) n.1070+2116T>G c.851-24230T>G (n.851-24230T>G) c.*2273T>G (n.*2273T>G) | gnomAD v4 |
| 6 | g.152101037T>G | CA820875473 | ESR1 | c.*2071T>G (n.*2071T>G) n.1070+2117T>G c.851-24229T>G (n.851-24229T>G) c.*2274T>G (n.*2274T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101037T= | CA1673177396 | ESR1 | c.*2071T= (n.*2071T=) n.1070+2117T= c.851-24229T= (n.851-24229T=) c.*2274T= (n.*2274T=) | |
| 6 | g.152101038T>G | CA1673177400 | ESR1 | c.*2072T>G (n.*2072T>G) n.1070+2118T>G c.851-24228T>G (n.851-24228T>G) c.*2275T>G (n.*2275T>G) | dbSNP |
| 6 | g.152101038T= | CA1673177398 | ESR1 | c.*2072T= (n.*2072T=) n.1070+2118T= c.851-24228T= (n.851-24228T=) c.*2275T= (n.*2275T=) | |
| 6 | g.152101039T>G | CA2550453824 | ESR1 | c.*2073T>G (n.*2073T>G) n.1070+2119T>G c.851-24227T>G (n.851-24227T>G) c.*2276T>G (n.*2276T>G) | |
| 6 | g.152101040T>G | CA1673177402 | ESR1 | c.*2074T>G (n.*2074T>G) n.1070+2120T>G c.851-24226T>G (n.851-24226T>G) c.*2277T>G (n.*2277T>G) | dbSNP |
| 6 | g.152101040T= | CA1673177401 | ESR1 | c.*2074T= (n.*2074T=) n.1070+2120T= c.851-24226T= (n.851-24226T=) c.*2277T= (n.*2277T=) | |
| 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 |
| 6 | g.152101055T>A | CA2680807637 | ESR1 | c.*2089T>A (n.*2089T>A) n.1070+2135T>A c.851-24211T>A (n.851-24211T>A) c.*2292T>A (n.*2292T>A) | gnomAD v4 |
| 6 | g.152101055_152101056insTTT | CA1095919382 | ESR1 | c.*2089_*2090insTTT (n.*2089_*2090insTTT) n.1070+2135_1070+2136insTTT c.851-24211_851-24210insTTT (n.851-24211_851-24210insTTT) c.*2292_*2293insTTT (n.*2292_*2293insTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101055dup | CA2503062814 | ESR1 | c.*2089dup (n.*2089dup) n.1070+2135dup c.851-24211dup (n.851-24211dup) c.*2292dup (n.*2292dup) | |
| 6 | g.152101056A= | CA1673177429 | ESR1 | c.*2090A= (n.*2090A=) n.1070+2136A= c.851-24210A= (n.851-24210A=) c.*2293A= (n.*2293A=) | |
| 6 | g.152101056A>C | CA1095919383 | ESR1 | c.*2090A>C (n.*2090A>C) n.1070+2136A>C c.851-24210A>C (n.851-24210A>C) c.*2293A>C (n.*2293A>C) | gnomAD v3 gnomAD v4 |
| 6 | g.152101056A>T | CA571117871 | ESR1 | c.*2090A>T (n.*2090A>T) n.1070+2136A>T c.851-24210A>T (n.851-24210A>T) c.*2293A>T (n.*2293A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101056_152101057del | CA571117870 | ESR1 | c.*2090_*2091del (n.*2090_*2091del) n.1070+2136_1070+2137del c.851-24210_851-24209del (n.851-24210_851-24209del) c.*2293_*2294del (n.*2293_*2294del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101057del | CA1095919385 | ESR1 | c.*2091del (n.*2091del) n.1070+2137del c.851-24209del (n.851-24209del) c.*2294del (n.*2294del) | gnomAD v3 gnomAD v4 |
| 6 | g.152101057C>A | CA1095919386 | ESR1 | c.*2091C>A (n.*2091C>A) n.1070+2137C>A c.851-24209C>A (n.851-24209C>A) c.*2294C>A (n.*2294C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101057C= | CA1673177433 | ESR1 | c.*2091C= (n.*2091C=) n.1070+2137C= c.851-24209C= (n.851-24209C=) c.*2294C= (n.*2294C=) | |
| 6 | g.152101057C>T | CA571117872 | ESR1 | c.*2091C>T (n.*2091C>T) n.1070+2137C>T c.851-24209C>T (n.851-24209C>T) c.*2294C>T (n.*2294C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101059_152101067del | CA2516382181 | ESR1 | c.*2093_*2101del (n.*2093_*2101del) n.1070+2139_1070+2147del c.851-24207_851-24199del (n.851-24207_851-24199del) c.*2296_*2304del (n.*2296_*2304del) | |
| 6 | g.152101058T>A | CA2680807638 | ESR1 | c.*2092T>A (n.*2092T>A) n.1070+2138T>A c.851-24208T>A (n.851-24208T>A) c.*2295T>A (n.*2295T>A) | gnomAD v4 |
| 6 | g.152101061_152101062insTTTTT | CA571117874 | ESR1 | c.*2095_*2096insTTTTT (n.*2095_*2096insTTTTT) n.1070+2141_1070+2142insTTTTT c.851-24205_851-24204insTTTTT (n.851-24205_851-24204insTTTTT) c.*2298_*2299insTTTTT (n.*2298_*2299insTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTT | CA1095919416 | ESR1 | c.*2095_*2096insTTTTTT (n.*2095_*2096insTTTTTT) n.1070+2141_1070+2142insTTTTTT c.851-24205_851-24204insTTTTTT (n.851-24205_851-24204insTTTTTT) c.*2298_*2299insTTTTTT (n.*2298_*2299insTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTT | CA1095919417 | ESR1 | c.*2095_*2096insTTTTTTT (n.*2095_*2096insTTTTTTT) n.1070+2141_1070+2142insTTTTTTT c.851-24205_851-24204insTTTTTTT (n.851-24205_851-24204insTTTTTTT) c.*2298_*2299insTTTTTTT (n.*2298_*2299insTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTT | CA571117875 | ESR1 | c.*2095_*2096insTTTTTTTT (n.*2095_*2096insTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTT c.851-24205_851-24204insTTTTTTTT (n.851-24205_851-24204insTTTTTTTT) c.*2298_*2299insTTTTTTTT (n.*2298_*2299insTTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTT | CA1095919419 | ESR1 | c.*2095_*2096insTTTTTTTTT (n.*2095_*2096insTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTT c.851-24205_851-24204insTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTT) c.*2298_*2299insTTTTTTTTT (n.*2298_*2299insTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTT | CA571117876 | ESR1 | c.*2095_*2096insTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTT | CA1095919421 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTT | CA1095919422 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTT | CA1095919423 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTT | CA1095919411 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTT | CA1095919412 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTT | CA1095919410 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTT | CA1095919409 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTT | CA1095919408 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTT | CA1095919407 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTT | CA1095919406 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTT | CA1095919405 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919404 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919403 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919402 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919399 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919398 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919396 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2740799873 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1095919395 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2773582356 | ESR1 | c.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2095_*2096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1070+2141_1070+2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.851-24205_851-24204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*2298_*2299insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
| 6 | g.152101059_152101061dup | CA571117873 | ESR1 | c.*2093_*2095dup (n.*2093_*2095dup) n.1070+2139_1070+2141dup c.851-24207_851-24205dup (n.851-24207_851-24205dup) c.*2296_*2298dup (n.*2296_*2298dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101058_152101061dup | CA1095919415 | ESR1 | c.*2092_*2095dup (n.*2092_*2095dup) n.1070+2138_1070+2141dup c.851-24208_851-24205dup (n.851-24208_851-24205dup) c.*2295_*2298dup (n.*2295_*2298dup) | gnomAD v3 gnomAD v4 |
| 6 | g.152101059T>C | CA2680807639 | ESR1 | c.*2093T>C (n.*2093T>C) n.1070+2139T>C c.851-24207T>C (n.851-24207T>C) c.*2296T>C (n.*2296T>C) | gnomAD v4 |
| 6 | g.152101060T>C | CA1673177445 | ESR1 | c.*2094T>C (n.*2094T>C) n.1070+2140T>C c.851-24206T>C (n.851-24206T>C) c.*2297T>C (n.*2297T>C) | dbSNP |
| 6 | g.152101060T= | CA1673177444 | ESR1 | c.*2094T= (n.*2094T=) n.1070+2140T= c.851-24206T= (n.851-24206T=) c.*2297T= (n.*2297T=) | |
| 6 | g.152101061_152101062insTTTTATT | CA2605334232 | ESR1 | c.*2095_*2096insTTTTATT (n.*2095_*2096insTTTTATT) n.1070+2141_1070+2142insTTTTATT c.851-24205_851-24204insTTTTATT (n.851-24205_851-24204insTTTTATT) c.*2298_*2299insTTTTATT (n.*2298_*2299insTTTTATT) | gnomAD v3 gnomAD v4 |
| 6 | g.152101061_152101062insTTTTTTCT | CA2773582357 | ESR1 | c.*2095_*2096insTTTTTTCT (n.*2095_*2096insTTTTTTCT) n.1070+2141_1070+2142insTTTTTTCT c.851-24205_851-24204insTTTTTTCT (n.851-24205_851-24204insTTTTTTCT) c.*2298_*2299insTTTTTTCT (n.*2298_*2299insTTTTTTCT) | |
| 6 | g.152101061_152101065delinsTCAAG | CA1673177447 | ESR1 | c.*2095_*2099delinsTCAAG (n.*2095_*2099delinsTCAAG) n.1070+2141_1070+2145delinsTCAAG c.851-24205_851-24201delinsTCAAG (n.851-24205_851-24201delinsTCAAG) c.*2298_*2302delinsTCAAG (n.*2298_*2302delinsTCAAG) | |
| 6 | g.152101062C>A | CA1095919437 | ESR1 | c.*2096C>A (n.*2096C>A) n.1070+2142C>A c.851-24204C>A (n.851-24204C>A) c.*2299C>A (n.*2299C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152101062C= | CA1673177450 | ESR1 | c.*2096C= (n.*2096C=) n.1070+2142C= c.851-24204C= (n.851-24204C=) c.*2299C= (n.*2299C=) | |
| 6 | g.152101062C>T | CA150175967 | ESR1 | c.*2096C>T (n.*2096C>T) n.1070+2142C>T c.851-24204C>T (n.851-24204C>T) c.*2299C>T (n.*2299C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101062_152101066del | CA2605334233 | ESR1 | c.*2096_*2100del (n.*2096_*2100del) n.1070+2142_1070+2146del c.851-24204_851-24200del (n.851-24204_851-24200del) c.*2299_*2303del (n.*2299_*2303del) | gnomAD v3 gnomAD v4 |
| 6 | g.152101063_152101066del | CA571117877 | ESR1 | c.*2097_*2100del (n.*2097_*2100del) n.1070+2143_1070+2146del c.851-24203_851-24200del (n.851-24203_851-24200del) c.*2300_*2303del (n.*2300_*2303del) | dbSNP gnomAD v2 |
| 6 | g.152101062_152101070del | CA1095919434 | ESR1 | c.*2096_*2104del (n.*2096_*2104del) n.1070+2142_1070+2150del c.851-24204_851-24196del (n.851-24204_851-24196del) c.*2299_*2307del (n.*2299_*2307del) | gnomAD v3 gnomAD v4 |
| 6 | g.152101063A= | CA1673177455 | ESR1 | c.*2097A= (n.*2097A=) n.1070+2143A= c.851-24203A= (n.851-24203A=) c.*2300A= (n.*2300A=) | |
| 6 | g.152101063A>C | CA1095919442 | ESR1 | c.*2097A>C (n.*2097A>C) n.1070+2143A>C c.851-24203A>C (n.851-24203A>C) c.*2300A>C (n.*2300A>C) | gnomAD v3 gnomAD v4 |
| 6 | g.152101063A>T | CA571117879 | ESR1 | c.*2097A>T (n.*2097A>T) n.1070+2143A>T c.851-24203A>T (n.851-24203A>T) c.*2300A>T (n.*2300A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152101064A>T | CA1095919443 | ESR1 | c.*2098A>T (n.*2098A>T) n.1070+2144A>T c.851-24202A>T (n.851-24202A>T) c.*2301A>T (n.*2301A>T) | gnomAD v3 gnomAD v4 |