| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152061094T>A | CA366213942 | ESR1 | c.1339T>A (p.Cys447Ser) c.43-33385T>A (n.43-33385T>A) n.667T>A c.556T>A (p.Cys186Ser) c.820T>A (p.Cys274Ser) c.*214T>A (n.*214T>A) c.1345T>A (p.Cys449Ser) c.1336T>A (p.Cys446Ser) c.610T>A (p.Cys204Ser) c.682T>A (p.Cys228Ser) c.550T>A (p.Cys184Ser) n.1570T>A | dbSNP |
| 6 | g.152061094T>C | CA366213943 | ESR1 | c.1339T>C (p.Cys447Arg) c.43-33385T>C (n.43-33385T>C) n.667T>C c.556T>C (p.Cys186Arg) c.820T>C (p.Cys274Arg) c.*214T>C (n.*214T>C) c.1345T>C (p.Cys449Arg) c.1336T>C (p.Cys446Arg) c.610T>C (p.Cys204Arg) c.682T>C (p.Cys228Arg) c.550T>C (p.Cys184Arg) n.1570T>C | |
| 6 | g.152061094T>G | CA366213944 | ESR1 | c.1339T>G (p.Cys447Gly) c.43-33385T>G (n.43-33385T>G) n.667T>G c.556T>G (p.Cys186Gly) c.820T>G (p.Cys274Gly) c.*214T>G (n.*214T>G) c.1345T>G (p.Cys449Gly) c.1336T>G (p.Cys446Gly) c.610T>G (p.Cys204Gly) c.682T>G (p.Cys228Gly) c.550T>G (p.Cys184Gly) n.1570T>G | |
| 6 | g.152061094_152061095delinsGC | CA126692 | ESR1 | c.1339_1340delinsGC (p.Cys447Ala) c.43-33385_43-33384delinsGC (n.43-33385_43-33384delinsGC) n.667_668delinsGC c.556_557delinsGC (p.Cys186Ala) c.820_821delinsGC (p.Cys274Ala) c.*214_*215delinsGC (n.*214_*215delinsGC) c.1345_1346delinsGC (p.Cys449Ala) c.1336_1337delinsGC (p.Cys446Ala) c.610_611delinsGC (p.Cys204Ala) c.682_683delinsGC (p.Cys228Ala) c.550_551delinsGC (p.Cys184Ala) n.1570_1571delinsGC | ClinVar dbSNP |
| 6 | g.152061094_152061095delinsTG | CA1673172629 | ESR1 | c.1339_1340delinsTG (p.Cys447=) c.43-33385_43-33384delinsTG (n.43-33385_43-33384delinsTG) n.667_668delinsTG c.556_557delinsTG (p.Cys186=) c.820_821delinsTG (p.Cys274=) c.*214_*215delinsTG (n.*214_*215delinsTG) c.1345_1346delinsTG (p.Cys449=) c.1336_1337delinsTG (p.Cys446=) c.610_611delinsTG (p.Cys204=) c.682_683delinsTG (p.Cys228=) c.550_551delinsTG (p.Cys184=) n.1570_1571delinsTG | |
| 6 | g.152061095G>A | CA366213945 | ESR1 | c.1340G>A (p.Cys447Tyr) c.43-33384G>A (n.43-33384G>A) n.668G>A c.557G>A (p.Cys186Tyr) c.821G>A (p.Cys274Tyr) c.*215G>A (n.*215G>A) c.1346G>A (p.Cys449Tyr) c.1337G>A (p.Cys446Tyr) c.611G>A (p.Cys204Tyr) c.683G>A (p.Cys228Tyr) c.551G>A (p.Cys184Tyr) n.1571G>A | dbSNP |
| 6 | g.152061095G>C | CA366213946 | ESR1 | c.1340G>C (p.Cys447Ser) c.43-33384G>C (n.43-33384G>C) n.668G>C c.557G>C (p.Cys186Ser) c.821G>C (p.Cys274Ser) c.*215G>C (n.*215G>C) c.1346G>C (p.Cys449Ser) c.1337G>C (p.Cys446Ser) c.611G>C (p.Cys204Ser) c.683G>C (p.Cys228Ser) c.551G>C (p.Cys184Ser) n.1571G>C | dbSNP |
| 6 | g.152061095G>T | CA366213947 | ESR1 | c.1340G>T (p.Cys447Phe) c.43-33384G>T (n.43-33384G>T) n.668G>T c.557G>T (p.Cys186Phe) c.821G>T (p.Cys274Phe) c.*215G>T (n.*215G>T) c.1346G>T (p.Cys449Phe) c.1337G>T (p.Cys446Phe) c.611G>T (p.Cys204Phe) c.683G>T (p.Cys228Phe) c.551G>T (p.Cys184Phe) n.1571G>T | |
| 6 | g.152061096C>A | CA366213948 | ESR1 | c.1341C>A (p.Cys447Ter) c.43-33383C>A (n.43-33383C>A) n.669C>A c.558C>A (p.Cys186Ter) c.822C>A (p.Cys274Ter) c.*216C>A (n.*216C>A) c.1347C>A (p.Cys449Ter) c.1338C>A (p.Cys446Ter) c.612C>A (p.Cys204Ter) c.684C>A (p.Cys228Ter) c.552C>A (p.Cys184Ter) n.1572C>A | dbSNP |
| 6 | g.152061096C= | CA1673172634 | ESR1 | c.1341C= (p.Cys447=) c.43-33383C= (n.43-33383C=) n.669C= c.558C= (p.Cys186=) c.822C= (p.Cys274=) c.*216C= (n.*216C=) c.1347C= (p.Cys449=) c.1338C= (p.Cys446=) c.612C= (p.Cys204=) c.684C= (p.Cys228=) c.552C= (p.Cys184=) n.1572C= | |
| 6 | g.152061096C>G | CA366213949 | ESR1 | c.1341C>G (p.Cys447Trp) c.43-33383C>G (n.43-33383C>G) n.669C>G c.558C>G (p.Cys186Trp) c.822C>G (p.Cys274Trp) c.*216C>G (n.*216C>G) c.1347C>G (p.Cys449Trp) c.1338C>G (p.Cys446Trp) c.612C>G (p.Cys204Trp) c.684C>G (p.Cys228Trp) c.552C>G (p.Cys184Trp) n.1572C>G | dbSNP |
| 6 | g.152061096C>T | CA452893383 | ESR1 | c.1341C>T (p.Cys447=) c.43-33383C>T (n.43-33383C>T) n.669C>T c.558C>T (p.Cys186=) c.822C>T (p.Cys274=) c.*216C>T (n.*216C>T) c.1347C>T (p.Cys449=) c.1338C>T (p.Cys446=) c.612C>T (p.Cys204=) c.684C>T (p.Cys228=) c.552C>T (p.Cys184=) n.1572C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152061097C>A | CA366213950 | ESR1 | c.1342C>A (p.Leu448Ile) c.43-33382C>A (n.43-33382C>A) n.670C>A c.559C>A (p.Leu187Ile) c.823C>A (p.Leu275Ile) c.*217C>A (n.*217C>A) c.1348C>A (p.Leu450Ile) c.1339C>A (p.Leu447Ile) c.613C>A (p.Leu205Ile) c.685C>A (p.Leu229Ile) c.553C>A (p.Leu185Ile) n.1573C>A | dbSNP |
| 6 | g.152061097C>G | CA366213951 | ESR1 | c.1342C>G (p.Leu448Val) c.43-33382C>G (n.43-33382C>G) n.670C>G c.559C>G (p.Leu187Val) c.823C>G (p.Leu275Val) c.*217C>G (n.*217C>G) c.1348C>G (p.Leu450Val) c.1339C>G (p.Leu447Val) c.613C>G (p.Leu205Val) c.685C>G (p.Leu229Val) c.553C>G (p.Leu185Val) n.1573C>G | dbSNP |
| 6 | g.152061097C>T | CA366213952 | ESR1 | c.1342C>T (p.Leu448Phe) c.43-33382C>T (n.43-33382C>T) n.670C>T c.559C>T (p.Leu187Phe) c.823C>T (p.Leu275Phe) c.*217C>T (n.*217C>T) c.1348C>T (p.Leu450Phe) c.1339C>T (p.Leu447Phe) c.613C>T (p.Leu205Phe) c.685C>T (p.Leu229Phe) c.553C>T (p.Leu185Phe) n.1573C>T | dbSNP gnomAD v4 |
| 6 | g.152061098T>A | CA366213955 | ESR1 | c.1343T>A (p.Leu448His) c.43-33381T>A (n.43-33381T>A) n.671T>A c.560T>A (p.Leu187His) c.824T>A (p.Leu275His) c.*218T>A (n.*218T>A) c.1349T>A (p.Leu450His) c.1340T>A (p.Leu447His) c.614T>A (p.Leu205His) c.686T>A (p.Leu229His) c.554T>A (p.Leu185His) n.1574T>A | dbSNP |
| 6 | g.152061098T>C | CA366213954 | ESR1 | c.1343T>C (p.Leu448Pro) c.43-33381T>C (n.43-33381T>C) n.671T>C c.560T>C (p.Leu187Pro) c.824T>C (p.Leu275Pro) c.*218T>C (n.*218T>C) c.1349T>C (p.Leu450Pro) c.1340T>C (p.Leu447Pro) c.614T>C (p.Leu205Pro) c.686T>C (p.Leu229Pro) c.554T>C (p.Leu185Pro) n.1574T>C | dbSNP COSMIC COSMIC |
| 6 | g.152061098T>G | CA366213953 | ESR1 | c.1343T>G (p.Leu448Arg) c.43-33381T>G (n.43-33381T>G) n.671T>G c.560T>G (p.Leu187Arg) c.824T>G (p.Leu275Arg) c.*218T>G (n.*218T>G) c.1349T>G (p.Leu450Arg) c.1340T>G (p.Leu447Arg) c.614T>G (p.Leu205Arg) c.686T>G (p.Leu229Arg) c.554T>G (p.Leu185Arg) n.1574T>G | |
| 6 | g.152061099C>A | CA452893384 | ESR1 | c.1344C>A (p.Leu448=) c.43-33380C>A (n.43-33380C>A) n.672C>A c.561C>A (p.Leu187=) c.825C>A (p.Leu275=) c.*219C>A (n.*219C>A) c.1350C>A (p.Leu450=) c.1341C>A (p.Leu447=) c.615C>A (p.Leu205=) c.687C>A (p.Leu229=) c.555C>A (p.Leu185=) n.1575C>A | |
| 6 | g.152061099C= | CA1673172636 | ESR1 | c.1344C= (p.Leu448=) c.43-33380C= (n.43-33380C=) n.672C= c.561C= (p.Leu187=) c.825C= (p.Leu275=) c.*219C= (n.*219C=) c.1350C= (p.Leu450=) c.1341C= (p.Leu447=) c.615C= (p.Leu205=) c.687C= (p.Leu229=) c.555C= (p.Leu185=) n.1575C= | |
| 6 | g.152061099C>G | CA452893385 | ESR1 | c.1344C>G (p.Leu448=) c.43-33380C>G (n.43-33380C>G) n.672C>G c.561C>G (p.Leu187=) c.825C>G (p.Leu275=) c.*219C>G (n.*219C>G) c.1350C>G (p.Leu450=) c.1341C>G (p.Leu447=) c.615C>G (p.Leu205=) c.687C>G (p.Leu229=) c.555C>G (p.Leu185=) n.1575C>G | dbSNP COSMIC COSMIC |
| 6 | g.152061099C>T | CA452893386 | ESR1 | c.1344C>T (p.Leu448=) c.43-33380C>T (n.43-33380C>T) n.672C>T c.561C>T (p.Leu187=) c.825C>T (p.Leu275=) c.*219C>T (n.*219C>T) c.1350C>T (p.Leu450=) c.1341C>T (p.Leu447=) c.615C>T (p.Leu205=) c.687C>T (p.Leu229=) c.555C>T (p.Leu185=) n.1575C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152061100A>C | CA366213956 | ESR1 | c.1345A>C (p.Lys449Gln) c.43-33379A>C (n.43-33379A>C) n.673A>C c.562A>C (p.Lys188Gln) c.826A>C (p.Lys276Gln) c.*220A>C (n.*220A>C) c.1351A>C (p.Lys451Gln) c.1342A>C (p.Lys448Gln) c.616A>C (p.Lys206Gln) c.688A>C (p.Lys230Gln) c.556A>C (p.Lys186Gln) n.1576A>C | dbSNP |
| 6 | g.152061100A>G | CA366213957 | ESR1 | c.1345A>G (p.Lys449Glu) c.43-33379A>G (n.43-33379A>G) n.673A>G c.562A>G (p.Lys188Glu) c.826A>G (p.Lys276Glu) c.*220A>G (n.*220A>G) c.1351A>G (p.Lys451Glu) c.1342A>G (p.Lys448Glu) c.616A>G (p.Lys206Glu) c.688A>G (p.Lys230Glu) c.556A>G (p.Lys186Glu) n.1576A>G | |
| 6 | g.152061100A>T | CA366213958 | ESR1 | c.1345A>T (p.Lys449Ter) c.43-33379A>T (n.43-33379A>T) n.673A>T c.562A>T (p.Lys188Ter) c.826A>T (p.Lys276Ter) c.*220A>T (n.*220A>T) c.1351A>T (p.Lys451Ter) c.1342A>T (p.Lys448Ter) c.616A>T (p.Lys206Ter) c.688A>T (p.Lys230Ter) c.556A>T (p.Lys186Ter) n.1576A>T | |
| 6 | g.152061101A= | CA1673172639 | ESR1 | c.1346A= (p.Lys449=) c.43-33378A= (n.43-33378A=) n.674A= c.563A= (p.Lys188=) c.827A= (p.Lys276=) c.*221A= (n.*221A=) c.1352A= (p.Lys451=) c.1343A= (p.Lys448=) c.617A= (p.Lys206=) c.689A= (p.Lys230=) c.557A= (p.Lys186=) n.1577A= | |
| 6 | g.152061101A>C | CA366213959 | ESR1 | c.1346A>C (p.Lys449Thr) c.43-33378A>C (n.43-33378A>C) n.674A>C c.563A>C (p.Lys188Thr) c.827A>C (p.Lys276Thr) c.*221A>C (n.*221A>C) c.1352A>C (p.Lys451Thr) c.1343A>C (p.Lys448Thr) c.617A>C (p.Lys206Thr) c.689A>C (p.Lys230Thr) c.557A>C (p.Lys186Thr) n.1577A>C | |
| 6 | g.152061101A>G | CA366213960 | ESR1 | c.1346A>G (p.Lys449Arg) c.43-33378A>G (n.43-33378A>G) n.674A>G c.563A>G (p.Lys188Arg) c.827A>G (p.Lys276Arg) c.*221A>G (n.*221A>G) c.1352A>G (p.Lys451Arg) c.1343A>G (p.Lys448Arg) c.617A>G (p.Lys206Arg) c.689A>G (p.Lys230Arg) c.557A>G (p.Lys186Arg) n.1577A>G | dbSNP |
| 6 | g.152061101A>T | CA366213961 | ESR1 | c.1346A>T (p.Lys449Ile) c.43-33378A>T (n.43-33378A>T) n.674A>T c.563A>T (p.Lys188Ile) c.827A>T (p.Lys276Ile) c.*221A>T (n.*221A>T) c.1352A>T (p.Lys451Ile) c.1343A>T (p.Lys448Ile) c.617A>T (p.Lys206Ile) c.689A>T (p.Lys230Ile) c.557A>T (p.Lys186Ile) n.1577A>T | dbSNP |
| 6 | g.152061102A>C | CA366213963 | ESR1 | c.1347A>C (p.Lys449Asn) c.43-33377A>C (n.43-33377A>C) n.675A>C c.564A>C (p.Lys188Asn) c.828A>C (p.Lys276Asn) c.*222A>C (n.*222A>C) c.1353A>C (p.Lys451Asn) c.1344A>C (p.Lys448Asn) c.618A>C (p.Lys206Asn) c.690A>C (p.Lys230Asn) c.558A>C (p.Lys186Asn) n.1578A>C | |
| 6 | g.152061102A>G | CA452893387 | ESR1 | c.1347A>G (p.Lys449=) c.43-33377A>G (n.43-33377A>G) n.675A>G c.564A>G (p.Lys188=) c.828A>G (p.Lys276=) c.*222A>G (n.*222A>G) c.1353A>G (p.Lys451=) c.1344A>G (p.Lys448=) c.618A>G (p.Lys206=) c.690A>G (p.Lys230=) c.558A>G (p.Lys186=) n.1578A>G | dbSNP |
| 6 | g.152061102A>T | CA366213962 | ESR1 | c.1347A>T (p.Lys449Asn) c.43-33377A>T (n.43-33377A>T) n.675A>T c.564A>T (p.Lys188Asn) c.828A>T (p.Lys276Asn) c.*222A>T (n.*222A>T) c.1353A>T (p.Lys451Asn) c.1344A>T (p.Lys448Asn) c.618A>T (p.Lys206Asn) c.690A>T (p.Lys230Asn) c.558A>T (p.Lys186Asn) n.1578A>T | dbSNP |
| 6 | g.152061103T>A | CA366213964 | ESR1 | c.1348T>A (p.Ser450Thr) c.43-33376T>A (n.43-33376T>A) n.676T>A c.565T>A (p.Ser189Thr) c.829T>A (p.Ser277Thr) c.*223T>A (n.*223T>A) c.1354T>A (p.Ser452Thr) c.1345T>A (p.Ser449Thr) c.619T>A (p.Ser207Thr) c.691T>A (p.Ser231Thr) c.559T>A (p.Ser187Thr) n.1579T>A | dbSNP |
| 6 | g.152061103T>C | CA366213965 | ESR1 | c.1348T>C (p.Ser450Pro) c.43-33376T>C (n.43-33376T>C) n.676T>C c.565T>C (p.Ser189Pro) c.829T>C (p.Ser277Pro) c.*223T>C (n.*223T>C) c.1354T>C (p.Ser452Pro) c.1345T>C (p.Ser449Pro) c.619T>C (p.Ser207Pro) c.691T>C (p.Ser231Pro) c.559T>C (p.Ser187Pro) n.1579T>C | |
| 6 | g.152061103T>G | CA366213966 | ESR1 | c.1348T>G (p.Ser450Ala) c.43-33376T>G (n.43-33376T>G) n.676T>G c.565T>G (p.Ser189Ala) c.829T>G (p.Ser277Ala) c.*223T>G (n.*223T>G) c.1354T>G (p.Ser452Ala) c.1345T>G (p.Ser449Ala) c.619T>G (p.Ser207Ala) c.691T>G (p.Ser231Ala) c.559T>G (p.Ser187Ala) n.1579T>G | |
| 6 | g.152061103T= | CA1673172642 | ESR1 | c.1348T= (p.Ser450=) c.43-33376T= (n.43-33376T=) n.676T= c.565T= (p.Ser189=) c.829T= (p.Ser277=) c.*223T= (n.*223T=) c.1354T= (p.Ser452=) c.1345T= (p.Ser449=) c.619T= (p.Ser207=) c.691T= (p.Ser231=) c.559T= (p.Ser187=) n.1579T= | |
| 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 |