WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152061104C>A | CA366213967 | ESR1 | c.1349C>A (p.Ser450Tyr) c.43-33375C>A (n.43-33375C>A) n.677C>A c.566C>A (p.Ser189Tyr) c.830C>A (p.Ser277Tyr) c.*224C>A (n.*224C>A) c.1355C>A (p.Ser452Tyr) c.1346C>A (p.Ser449Tyr) c.620C>A (p.Ser207Tyr) c.692C>A (p.Ser231Tyr) c.560C>A (p.Ser187Tyr) n.1580C>A | dbSNP |
| 6 | g.152061104C= | CA1673172644 | ESR1 | c.1349C= (p.Ser450=) c.43-33375C= (n.43-33375C=) n.677C= c.566C= (p.Ser189=) c.830C= (p.Ser277=) c.*224C= (n.*224C=) c.1355C= (p.Ser452=) c.1346C= (p.Ser449=) c.620C= (p.Ser207=) c.692C= (p.Ser231=) c.560C= (p.Ser187=) n.1580C= | |
| 6 | g.152061104C>G | CA150439567 | ESR1 | c.1349C>G (p.Ser450Cys) c.43-33375C>G (n.43-33375C>G) n.677C>G c.566C>G (p.Ser189Cys) c.830C>G (p.Ser277Cys) c.*224C>G (n.*224C>G) c.1355C>G (p.Ser452Cys) c.1346C>G (p.Ser449Cys) c.620C>G (p.Ser207Cys) c.692C>G (p.Ser231Cys) c.560C>G (p.Ser187Cys) n.1580C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152061104C>T | CA366213968 | ESR1 | c.1349C>T (p.Ser450Phe) c.43-33375C>T (n.43-33375C>T) n.677C>T c.566C>T (p.Ser189Phe) c.830C>T (p.Ser277Phe) c.*224C>T (n.*224C>T) c.1355C>T (p.Ser452Phe) c.1346C>T (p.Ser449Phe) c.620C>T (p.Ser207Phe) c.692C>T (p.Ser231Phe) c.560C>T (p.Ser187Phe) n.1580C>T | dbSNP gnomAD v4 |
| 6 | g.152061105T>A | CA452893388 | ESR1 | c.1350T>A (p.Ser450=) c.43-33374T>A (n.43-33374T>A) n.678T>A c.567T>A (p.Ser189=) c.831T>A (p.Ser277=) c.*225T>A (n.*225T>A) c.1356T>A (p.Ser452=) c.1347T>A (p.Ser449=) c.621T>A (p.Ser207=) c.693T>A (p.Ser231=) c.561T>A (p.Ser187=) n.1581T>A | |
| 6 | g.152061105T>C | CA452893389 | ESR1 | c.1350T>C (p.Ser450=) c.43-33374T>C (n.43-33374T>C) n.678T>C c.567T>C (p.Ser189=) c.831T>C (p.Ser277=) c.*225T>C (n.*225T>C) c.1356T>C (p.Ser452=) c.1347T>C (p.Ser449=) c.621T>C (p.Ser207=) c.693T>C (p.Ser231=) c.561T>C (p.Ser187=) n.1581T>C | dbSNP |
| 6 | g.152061105T>G | CA452893390 | ESR1 | c.1350T>G (p.Ser450=) c.43-33374T>G (n.43-33374T>G) n.678T>G c.567T>G (p.Ser189=) c.831T>G (p.Ser277=) c.*225T>G (n.*225T>G) c.1356T>G (p.Ser452=) c.1347T>G (p.Ser449=) c.621T>G (p.Ser207=) c.693T>G (p.Ser231=) c.561T>G (p.Ser187=) n.1581T>G | dbSNP |
| 6 | g.152061105T= | CA1673172646 | ESR1 | c.1350T= (p.Ser450=) c.43-33374T= (n.43-33374T=) n.678T= c.567T= (p.Ser189=) c.831T= (p.Ser277=) c.*225T= (n.*225T=) c.1356T= (p.Ser452=) c.1347T= (p.Ser449=) c.621T= (p.Ser207=) c.693T= (p.Ser231=) c.561T= (p.Ser187=) n.1581T= | |
| 6 | g.152061106A>C | CA366213969 | ESR1 | c.1351A>C (p.Ile451Leu) c.43-33373A>C (n.43-33373A>C) n.679A>C c.568A>C (p.Ile190Leu) c.832A>C (p.Ile278Leu) c.*226A>C (n.*226A>C) c.1357A>C (p.Ile453Leu) c.1348A>C (p.Ile450Leu) c.622A>C (p.Ile208Leu) c.694A>C (p.Ile232Leu) c.562A>C (p.Ile188Leu) n.1582A>C | |
| 6 | g.152061106A>G | CA366213971 | ESR1 | c.1351A>G (p.Ile451Val) c.43-33373A>G (n.43-33373A>G) n.679A>G c.568A>G (p.Ile190Val) c.832A>G (p.Ile278Val) c.*226A>G (n.*226A>G) c.1357A>G (p.Ile453Val) c.1348A>G (p.Ile450Val) c.622A>G (p.Ile208Val) c.694A>G (p.Ile232Val) c.562A>G (p.Ile188Val) n.1582A>G | |
| 6 | g.152061106A>T | CA366213970 | ESR1 | c.1351A>T (p.Ile451Phe) c.43-33373A>T (n.43-33373A>T) n.679A>T c.568A>T (p.Ile190Phe) c.832A>T (p.Ile278Phe) c.*226A>T (n.*226A>T) c.1357A>T (p.Ile453Phe) c.1348A>T (p.Ile450Phe) c.622A>T (p.Ile208Phe) c.694A>T (p.Ile232Phe) c.562A>T (p.Ile188Phe) n.1582A>T | |
| 6 | g.152061107T>A | CA366213972 | ESR1 | c.1352T>A (p.Ile451Asn) c.43-33372T>A (n.43-33372T>A) n.680T>A c.569T>A (p.Ile190Asn) c.833T>A (p.Ile278Asn) c.*227T>A (n.*227T>A) c.1358T>A (p.Ile453Asn) c.1349T>A (p.Ile450Asn) c.623T>A (p.Ile208Asn) c.695T>A (p.Ile232Asn) c.563T>A (p.Ile188Asn) n.1583T>A | |
| 6 | g.152061107T>C | CA366213973 | ESR1 | c.1352T>C (p.Ile451Thr) c.43-33372T>C (n.43-33372T>C) n.680T>C c.569T>C (p.Ile190Thr) c.833T>C (p.Ile278Thr) c.*227T>C (n.*227T>C) c.1358T>C (p.Ile453Thr) c.1349T>C (p.Ile450Thr) c.623T>C (p.Ile208Thr) c.695T>C (p.Ile232Thr) c.563T>C (p.Ile188Thr) n.1583T>C | gnomAD v4 |
| 6 | g.152061107T>G | CA366213974 | ESR1 | c.1352T>G (p.Ile451Ser) c.43-33372T>G (n.43-33372T>G) n.680T>G c.569T>G (p.Ile190Ser) c.833T>G (p.Ile278Ser) c.*227T>G (n.*227T>G) c.1358T>G (p.Ile453Ser) c.1349T>G (p.Ile450Ser) c.623T>G (p.Ile208Ser) c.695T>G (p.Ile232Ser) c.563T>G (p.Ile188Ser) n.1583T>G | |
| 6 | g.152061108T>A | CA452893391 | ESR1 | c.1353T>A (p.Ile451=) c.43-33371T>A (n.43-33371T>A) n.681T>A c.570T>A (p.Ile190=) c.834T>A (p.Ile278=) c.*228T>A (n.*228T>A) c.1359T>A (p.Ile453=) c.1350T>A (p.Ile450=) c.624T>A (p.Ile208=) c.696T>A (p.Ile232=) c.564T>A (p.Ile188=) n.1584T>A | dbSNP |
| 6 | g.152061108T>C | CA452893392 | ESR1 | c.1353T>C (p.Ile451=) c.43-33371T>C (n.43-33371T>C) n.681T>C c.570T>C (p.Ile190=) c.834T>C (p.Ile278=) c.*228T>C (n.*228T>C) c.1359T>C (p.Ile453=) c.1350T>C (p.Ile450=) c.624T>C (p.Ile208=) c.696T>C (p.Ile232=) c.564T>C (p.Ile188=) n.1584T>C | dbSNP |
| 6 | g.152061108T>G | CA366213975 | ESR1 | c.1353T>G (p.Ile451Met) c.43-33371T>G (n.43-33371T>G) n.681T>G c.570T>G (p.Ile190Met) c.834T>G (p.Ile278Met) c.*228T>G (n.*228T>G) c.1359T>G (p.Ile453Met) c.1350T>G (p.Ile450Met) c.624T>G (p.Ile208Met) c.696T>G (p.Ile232Met) c.564T>G (p.Ile188Met) n.1584T>G | |
| 6 | g.152061108T= | CA1673172648 | ESR1 | c.1353T= (p.Ile451=) c.43-33371T= (n.43-33371T=) n.681T= c.570T= (p.Ile190=) c.834T= (p.Ile278=) c.*228T= (n.*228T=) c.1359T= (p.Ile453=) c.1350T= (p.Ile450=) c.624T= (p.Ile208=) c.696T= (p.Ile232=) c.564T= (p.Ile188=) n.1584T= | |
| 6 | g.152061109A>C | CA366213976 | ESR1 | c.1354A>C (p.Ile452Leu) c.43-33370A>C (n.43-33370A>C) n.682A>C c.571A>C (p.Ile191Leu) c.835A>C (p.Ile279Leu) c.*229A>C (n.*229A>C) c.1360A>C (p.Ile454Leu) c.1351A>C (p.Ile451Leu) c.625A>C (p.Ile209Leu) c.697A>C (p.Ile233Leu) c.565A>C (p.Ile189Leu) n.1585A>C | |
| 6 | g.152061109A>G | CA366213977 | ESR1 | c.1354A>G (p.Ile452Val) c.43-33370A>G (n.43-33370A>G) n.682A>G c.571A>G (p.Ile191Val) c.835A>G (p.Ile279Val) c.*229A>G (n.*229A>G) c.1360A>G (p.Ile454Val) c.1351A>G (p.Ile451Val) c.625A>G (p.Ile209Val) c.697A>G (p.Ile233Val) c.565A>G (p.Ile189Val) n.1585A>G | |
| 6 | g.152061109A>T | CA366213978 | ESR1 | c.1354A>T (p.Ile452Phe) c.43-33370A>T (n.43-33370A>T) n.682A>T c.571A>T (p.Ile191Phe) c.835A>T (p.Ile279Phe) c.*229A>T (n.*229A>T) c.1360A>T (p.Ile454Phe) c.1351A>T (p.Ile451Phe) c.625A>T (p.Ile209Phe) c.697A>T (p.Ile233Phe) c.565A>T (p.Ile189Phe) n.1585A>T | |
| 6 | g.152061110T>A | CA366213979 | ESR1 | c.1355T>A (p.Ile452Asn) c.43-33369T>A (n.43-33369T>A) n.683T>A c.572T>A (p.Ile191Asn) c.836T>A (p.Ile279Asn) c.*230T>A (n.*230T>A) c.1361T>A (p.Ile454Asn) c.1352T>A (p.Ile451Asn) c.626T>A (p.Ile209Asn) c.698T>A (p.Ile233Asn) c.566T>A (p.Ile189Asn) n.1586T>A | dbSNP |
| 6 | g.152061110T>C | CA366213980 | ESR1 | c.1355T>C (p.Ile452Thr) c.43-33369T>C (n.43-33369T>C) n.683T>C c.572T>C (p.Ile191Thr) c.836T>C (p.Ile279Thr) c.*230T>C (n.*230T>C) c.1361T>C (p.Ile454Thr) c.1352T>C (p.Ile451Thr) c.626T>C (p.Ile209Thr) c.698T>C (p.Ile233Thr) c.566T>C (p.Ile189Thr) n.1586T>C | |
| 6 | g.152061110T>G | CA366213981 | ESR1 | c.1355T>G (p.Ile452Ser) c.43-33369T>G (n.43-33369T>G) n.683T>G c.572T>G (p.Ile191Ser) c.836T>G (p.Ile279Ser) c.*230T>G (n.*230T>G) c.1361T>G (p.Ile454Ser) c.1352T>G (p.Ile451Ser) c.626T>G (p.Ile209Ser) c.698T>G (p.Ile233Ser) c.566T>G (p.Ile189Ser) n.1586T>G | |
| 6 | g.152061110T= | CA1673172649 | ESR1 | c.1355T= (p.Ile452=) c.43-33369T= (n.43-33369T=) n.683T= c.572T= (p.Ile191=) c.836T= (p.Ile279=) c.*230T= (n.*230T=) c.1361T= (p.Ile454=) c.1352T= (p.Ile451=) c.626T= (p.Ile209=) c.698T= (p.Ile233=) c.566T= (p.Ile189=) n.1586T= | |
| 6 | g.152061111T>A | CA452893393 | ESR1 | c.1356T>A (p.Ile452=) c.43-33368T>A (n.43-33368T>A) n.684T>A c.573T>A (p.Ile191=) c.837T>A (p.Ile279=) c.*231T>A (n.*231T>A) c.1362T>A (p.Ile454=) c.1353T>A (p.Ile451=) c.627T>A (p.Ile209=) c.699T>A (p.Ile233=) c.567T>A (p.Ile189=) n.1587T>A | |
| 6 | g.152061111T>C | CA452893394 | ESR1 | c.1356T>C (p.Ile452=) c.43-33368T>C (n.43-33368T>C) n.684T>C c.573T>C (p.Ile191=) c.837T>C (p.Ile279=) c.*231T>C (n.*231T>C) c.1362T>C (p.Ile454=) c.1353T>C (p.Ile451=) c.627T>C (p.Ile209=) c.699T>C (p.Ile233=) c.567T>C (p.Ile189=) n.1587T>C | |
| 6 | g.152061111T>G | CA366213982 | ESR1 | c.1356T>G (p.Ile452Met) c.43-33368T>G (n.43-33368T>G) n.684T>G c.573T>G (p.Ile191Met) c.837T>G (p.Ile279Met) c.*231T>G (n.*231T>G) c.1362T>G (p.Ile454Met) c.1353T>G (p.Ile451Met) c.627T>G (p.Ile209Met) c.699T>G (p.Ile233Met) c.567T>G (p.Ile189Met) n.1587T>G | |
| 6 | g.152061112T>A | CA366213983 | ESR1 | c.1357T>A (p.Leu453Met) c.43-33367T>A (n.43-33367T>A) n.685T>A c.574T>A (p.Leu192Met) c.838T>A (p.Leu280Met) c.*232T>A (n.*232T>A) c.1363T>A (p.Leu455Met) c.1354T>A (p.Leu452Met) c.628T>A (p.Leu210Met) c.700T>A (p.Leu234Met) c.568T>A (p.Leu190Met) n.1588T>A | dbSNP |
| 6 | g.152061112T>C | CA452893395 | ESR1 | c.1357T>C (p.Leu453=) c.43-33367T>C (n.43-33367T>C) n.685T>C c.574T>C (p.Leu192=) c.838T>C (p.Leu280=) c.*232T>C (n.*232T>C) c.1363T>C (p.Leu455=) c.1354T>C (p.Leu452=) c.628T>C (p.Leu210=) c.700T>C (p.Leu234=) c.568T>C (p.Leu190=) n.1588T>C | |
| 6 | g.152061112T>G | CA366213984 | ESR1 | c.1357T>G (p.Leu453Val) c.43-33367T>G (n.43-33367T>G) n.685T>G c.574T>G (p.Leu192Val) c.838T>G (p.Leu280Val) c.*232T>G (n.*232T>G) c.1363T>G (p.Leu455Val) c.1354T>G (p.Leu452Val) c.628T>G (p.Leu210Val) c.700T>G (p.Leu234Val) c.568T>G (p.Leu190Val) n.1588T>G | COSMIC COSMIC |
| 6 | g.152061113T>A | CA366213985 | ESR1 | c.1358T>A (p.Leu453Ter) c.43-33366T>A (n.43-33366T>A) n.686T>A c.575T>A (p.Leu192Ter) c.839T>A (p.Leu280Ter) c.*233T>A (n.*233T>A) c.1364T>A (p.Leu455Ter) c.1355T>A (p.Leu452Ter) c.629T>A (p.Leu210Ter) c.701T>A (p.Leu234Ter) c.569T>A (p.Leu190Ter) n.1589T>A | dbSNP |
| 6 | g.152061113T>C | CA366213987 | ESR1 | c.1358T>C (p.Leu453Ser) c.43-33366T>C (n.43-33366T>C) n.686T>C c.575T>C (p.Leu192Ser) c.839T>C (p.Leu280Ser) c.*233T>C (n.*233T>C) c.1364T>C (p.Leu455Ser) c.1355T>C (p.Leu452Ser) c.629T>C (p.Leu210Ser) c.701T>C (p.Leu234Ser) c.569T>C (p.Leu190Ser) n.1589T>C | |
| 6 | g.152061113T>G | CA366213986 | ESR1 | c.1358T>G (p.Leu453Trp) c.43-33366T>G (n.43-33366T>G) n.686T>G c.575T>G (p.Leu192Trp) c.839T>G (p.Leu280Trp) c.*233T>G (n.*233T>G) c.1364T>G (p.Leu455Trp) c.1355T>G (p.Leu452Trp) c.629T>G (p.Leu210Trp) c.701T>G (p.Leu234Trp) c.569T>G (p.Leu190Trp) n.1589T>G | |
| 6 | g.152061114G>A | CA452893396 | ESR1 | c.1359G>A (p.Leu453=) c.43-33365G>A (n.43-33365G>A) n.687G>A c.576G>A (p.Leu192=) c.840G>A (p.Leu280=) c.*234G>A (n.*234G>A) c.1365G>A (p.Leu455=) c.1356G>A (p.Leu452=) c.630G>A (p.Leu210=) c.702G>A (p.Leu234=) c.570G>A (p.Leu190=) n.1590G>A | dbSNP |
| 6 | g.152061114G>C | CA366213988 | ESR1 | c.1359G>C (p.Leu453Phe) c.43-33365G>C (n.43-33365G>C) n.687G>C c.576G>C (p.Leu192Phe) c.840G>C (p.Leu280Phe) c.*234G>C (n.*234G>C) c.1365G>C (p.Leu455Phe) c.1356G>C (p.Leu452Phe) c.630G>C (p.Leu210Phe) c.702G>C (p.Leu234Phe) c.570G>C (p.Leu190Phe) n.1590G>C | dbSNP |
| 6 | g.152061114G>T | CA366213989 | ESR1 | c.1359G>T (p.Leu453Phe) c.43-33365G>T (n.43-33365G>T) n.687G>T c.576G>T (p.Leu192Phe) c.840G>T (p.Leu280Phe) c.*234G>T (n.*234G>T) c.1365G>T (p.Leu455Phe) c.1356G>T (p.Leu452Phe) c.630G>T (p.Leu210Phe) c.702G>T (p.Leu234Phe) c.570G>T (p.Leu190Phe) n.1590G>T | dbSNP |
| 6 | g.152061115C>A | CA366213990 | ESR1 | c.1360C>A (p.Leu454Ile) c.43-33364C>A (n.43-33364C>A) n.688C>A c.577C>A (p.Leu193Ile) c.841C>A (p.Leu281Ile) c.*235C>A (n.*235C>A) c.1366C>A (p.Leu456Ile) c.1357C>A (p.Leu453Ile) c.631C>A (p.Leu211Ile) c.703C>A (p.Leu235Ile) c.571C>A (p.Leu191Ile) n.1591C>A | |
| 6 | g.152061115C>G | CA366213991 | ESR1 | c.1360C>G (p.Leu454Val) c.43-33364C>G (n.43-33364C>G) n.688C>G c.577C>G (p.Leu193Val) c.841C>G (p.Leu281Val) c.*235C>G (n.*235C>G) c.1366C>G (p.Leu456Val) c.1357C>G (p.Leu453Val) c.631C>G (p.Leu211Val) c.703C>G (p.Leu235Val) c.571C>G (p.Leu191Val) n.1591C>G | dbSNP |
| 6 | g.152061115C>T | CA366213992 | ESR1 | c.1360C>T (p.Leu454Phe) c.43-33364C>T (n.43-33364C>T) n.688C>T c.577C>T (p.Leu193Phe) c.841C>T (p.Leu281Phe) c.*235C>T (n.*235C>T) c.1366C>T (p.Leu456Phe) c.1357C>T (p.Leu453Phe) c.631C>T (p.Leu211Phe) c.703C>T (p.Leu235Phe) c.571C>T (p.Leu191Phe) n.1591C>T | dbSNP |
| 6 | g.152061116T>A | CA366213995 | ESR1 | c.1361T>A (p.Leu454His) c.43-33363T>A (n.43-33363T>A) n.689T>A c.578T>A (p.Leu193His) c.842T>A (p.Leu281His) c.*236T>A (n.*236T>A) c.1367T>A (p.Leu456His) c.1358T>A (p.Leu453His) c.632T>A (p.Leu211His) c.704T>A (p.Leu235His) c.572T>A (p.Leu191His) n.1592T>A | dbSNP |
| 6 | g.152061116T>C | CA366213994 | ESR1 | c.1361T>C (p.Leu454Pro) c.43-33363T>C (n.43-33363T>C) n.689T>C c.578T>C (p.Leu193Pro) c.842T>C (p.Leu281Pro) c.*236T>C (n.*236T>C) c.1367T>C (p.Leu456Pro) c.1358T>C (p.Leu453Pro) c.632T>C (p.Leu211Pro) c.704T>C (p.Leu235Pro) c.572T>C (p.Leu191Pro) n.1592T>C | |
| 6 | g.152061116T>G | CA366213993 | ESR1 | c.1361T>G (p.Leu454Arg) c.43-33363T>G (n.43-33363T>G) n.689T>G c.578T>G (p.Leu193Arg) c.842T>G (p.Leu281Arg) c.*236T>G (n.*236T>G) c.1367T>G (p.Leu456Arg) c.1358T>G (p.Leu453Arg) c.632T>G (p.Leu211Arg) c.704T>G (p.Leu235Arg) c.572T>G (p.Leu191Arg) n.1592T>G | |
| 6 | g.152061117T>A | CA452893397 | ESR1 | c.1362T>A (p.Leu454=) c.43-33362T>A (n.43-33362T>A) n.690T>A c.579T>A (p.Leu193=) c.843T>A (p.Leu281=) c.*237T>A (n.*237T>A) c.1368T>A (p.Leu456=) c.1359T>A (p.Leu453=) c.633T>A (p.Leu211=) c.705T>A (p.Leu235=) c.573T>A (p.Leu191=) n.1593T>A | dbSNP |
| 6 | g.152061117T>C | CA452893398 | ESR1 | c.1362T>C (p.Leu454=) c.43-33362T>C (n.43-33362T>C) n.690T>C c.579T>C (p.Leu193=) c.843T>C (p.Leu281=) c.*237T>C (n.*237T>C) c.1368T>C (p.Leu456=) c.1359T>C (p.Leu453=) c.633T>C (p.Leu211=) c.705T>C (p.Leu235=) c.573T>C (p.Leu191=) n.1593T>C | dbSNP gnomAD v4 |
| 6 | g.152061117T>G | CA452893399 | ESR1 | c.1362T>G (p.Leu454=) c.43-33362T>G (n.43-33362T>G) n.690T>G c.579T>G (p.Leu193=) c.843T>G (p.Leu281=) c.*237T>G (n.*237T>G) c.1368T>G (p.Leu456=) c.1359T>G (p.Leu453=) c.633T>G (p.Leu211=) c.705T>G (p.Leu235=) c.573T>G (p.Leu191=) n.1593T>G | |
| 6 | g.152061118A>C | CA366213996 | ESR1 | c.1363A>C (p.Asn455His) c.43-33361A>C (n.43-33361A>C) n.691A>C c.580A>C (p.Asn194His) c.844A>C (p.Asn282His) c.*238A>C (n.*238A>C) c.1369A>C (p.Asn457His) c.1360A>C (p.Asn454His) c.634A>C (p.Asn212His) c.706A>C (p.Asn236His) c.574A>C (p.Asn192His) n.1594A>C | gnomAD v4 |
| 6 | g.152061118A>G | CA366213997 | ESR1 | c.1363A>G (p.Asn455Asp) c.43-33361A>G (n.43-33361A>G) n.691A>G c.580A>G (p.Asn194Asp) c.844A>G (p.Asn282Asp) c.*238A>G (n.*238A>G) c.1369A>G (p.Asn457Asp) c.1360A>G (p.Asn454Asp) c.634A>G (p.Asn212Asp) c.706A>G (p.Asn236Asp) c.574A>G (p.Asn192Asp) n.1594A>G | dbSNP |
| 6 | g.152061118A>T | CA366213998 | ESR1 | c.1363A>T (p.Asn455Tyr) c.43-33361A>T (n.43-33361A>T) n.691A>T c.580A>T (p.Asn194Tyr) c.844A>T (p.Asn282Tyr) c.*238A>T (n.*238A>T) c.1369A>T (p.Asn457Tyr) c.1360A>T (p.Asn454Tyr) c.634A>T (p.Asn212Tyr) c.706A>T (p.Asn236Tyr) c.574A>T (p.Asn192Tyr) n.1594A>T | dbSNP |
| 6 | g.152061119A>C | CA366213999 | ESR1 | c.1364A>C (p.Asn455Thr) c.43-33360A>C (n.43-33360A>C) n.692A>C c.581A>C (p.Asn194Thr) c.845A>C (p.Asn282Thr) c.*239A>C (n.*239A>C) c.1370A>C (p.Asn457Thr) c.1361A>C (p.Asn454Thr) c.635A>C (p.Asn212Thr) c.707A>C (p.Asn236Thr) c.575A>C (p.Asn192Thr) n.1595A>C |