Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152061090T>A | CA366213934 | ESR1 | c.1335T>A (p.Phe445Leu) c.43-33389T>A (n.43-33389T>A) n.663T>A c.552T>A (p.Phe184Leu) c.816T>A (p.Phe272Leu) c.*210T>A (n.*210T>A) c.1341T>A (p.Phe447Leu) c.1332T>A (p.Phe444Leu) c.606T>A (p.Phe202Leu) c.678T>A (p.Phe226Leu) c.546T>A (p.Phe182Leu) n.1566T>A | dbSNP |
6 | g.152061090T>C | CA452893379 | ESR1 | c.1335T>C (p.Phe445=) c.43-33389T>C (n.43-33389T>C) n.663T>C c.552T>C (p.Phe184=) c.816T>C (p.Phe272=) c.*210T>C (n.*210T>C) c.1341T>C (p.Phe447=) c.1332T>C (p.Phe444=) c.606T>C (p.Phe202=) c.678T>C (p.Phe226=) c.546T>C (p.Phe182=) n.1566T>C | |
6 | g.152061090T>G | CA366213935 | ESR1 | c.1335T>G (p.Phe445Leu) c.43-33389T>G (n.43-33389T>G) n.663T>G c.552T>G (p.Phe184Leu) c.816T>G (p.Phe272Leu) c.*210T>G (n.*210T>G) c.1341T>G (p.Phe447Leu) c.1332T>G (p.Phe444Leu) c.606T>G (p.Phe202Leu) c.678T>G (p.Phe226Leu) c.546T>G (p.Phe182Leu) n.1566T>G | |
6 | g.152061091G>A | CA366213936 | ESR1 | c.1336G>A (p.Val446Met) c.43-33388G>A (n.43-33388G>A) n.664G>A c.553G>A (p.Val185Met) c.817G>A (p.Val273Met) c.*211G>A (n.*211G>A) c.1342G>A (p.Val448Met) c.1333G>A (p.Val445Met) c.607G>A (p.Val203Met) c.679G>A (p.Val227Met) c.547G>A (p.Val183Met) n.1567G>A | dbSNP |
6 | g.152061091G>C | CA366213937 | ESR1 | c.1336G>C (p.Val446Leu) c.43-33388G>C (n.43-33388G>C) n.664G>C c.553G>C (p.Val185Leu) c.817G>C (p.Val273Leu) c.*211G>C (n.*211G>C) c.1342G>C (p.Val448Leu) c.1333G>C (p.Val445Leu) c.607G>C (p.Val203Leu) c.679G>C (p.Val227Leu) c.547G>C (p.Val183Leu) n.1567G>C | dbSNP |
6 | g.152061091G>T | CA366213938 | ESR1 | c.1336G>T (p.Val446Leu) c.43-33388G>T (n.43-33388G>T) n.664G>T c.553G>T (p.Val185Leu) c.817G>T (p.Val273Leu) c.*211G>T (n.*211G>T) c.1342G>T (p.Val448Leu) c.1333G>T (p.Val445Leu) c.607G>T (p.Val203Leu) c.679G>T (p.Val227Leu) c.547G>T (p.Val183Leu) n.1567G>T | gnomAD v4 |
6 | g.152061092T>A | CA366213941 | ESR1 | c.1337T>A (p.Val446Glu) c.43-33387T>A (n.43-33387T>A) n.665T>A c.554T>A (p.Val185Glu) c.818T>A (p.Val273Glu) c.*212T>A (n.*212T>A) c.1343T>A (p.Val448Glu) c.1334T>A (p.Val445Glu) c.608T>A (p.Val203Glu) c.680T>A (p.Val227Glu) c.548T>A (p.Val183Glu) n.1568T>A | dbSNP |
6 | g.152061092T>C | CA366213940 | ESR1 | c.1337T>C (p.Val446Ala) c.43-33387T>C (n.43-33387T>C) n.665T>C c.554T>C (p.Val185Ala) c.818T>C (p.Val273Ala) c.*212T>C (n.*212T>C) c.1343T>C (p.Val448Ala) c.1334T>C (p.Val445Ala) c.608T>C (p.Val203Ala) c.680T>C (p.Val227Ala) c.548T>C (p.Val183Ala) n.1568T>C | |
6 | g.152061092T>G | CA366213939 | ESR1 | c.1337T>G (p.Val446Gly) c.43-33387T>G (n.43-33387T>G) n.665T>G c.554T>G (p.Val185Gly) c.818T>G (p.Val273Gly) c.*212T>G (n.*212T>G) c.1343T>G (p.Val448Gly) c.1334T>G (p.Val445Gly) c.608T>G (p.Val203Gly) c.680T>G (p.Val227Gly) c.548T>G (p.Val183Gly) n.1568T>G | dbSNP |
6 | g.152061093G>A | CA452893380 | ESR1 | c.1338G>A (p.Val446=) c.43-33386G>A (n.43-33386G>A) n.666G>A c.555G>A (p.Val185=) c.819G>A (p.Val273=) c.*213G>A (n.*213G>A) c.1344G>A (p.Val448=) c.1335G>A (p.Val445=) c.609G>A (p.Val203=) c.681G>A (p.Val227=) c.549G>A (p.Val183=) n.1569G>A | dbSNP |
6 | g.152061093G>C | CA452893381 | ESR1 | c.1338G>C (p.Val446=) c.43-33386G>C (n.43-33386G>C) n.666G>C c.555G>C (p.Val185=) c.819G>C (p.Val273=) c.*213G>C (n.*213G>C) c.1344G>C (p.Val448=) c.1335G>C (p.Val445=) c.609G>C (p.Val203=) c.681G>C (p.Val227=) c.549G>C (p.Val183=) n.1569G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152061093G= | CA1673172625 | ESR1 | c.1338G= (p.Val446=) c.43-33386G= (n.43-33386G=) n.666G= c.555G= (p.Val185=) c.819G= (p.Val273=) c.*213G= (n.*213G=) c.1344G= (p.Val448=) c.1335G= (p.Val445=) c.609G= (p.Val203=) c.681G= (p.Val227=) c.549G= (p.Val183=) n.1569G= | |
6 | g.152061093G>T | CA452893382 | ESR1 | c.1338G>T (p.Val446=) c.43-33386G>T (n.43-33386G>T) n.666G>T c.555G>T (p.Val185=) c.819G>T (p.Val273=) c.*213G>T (n.*213G>T) c.1344G>T (p.Val448=) c.1335G>T (p.Val445=) c.609G>T (p.Val203=) c.681G>T (p.Val227=) c.549G>T (p.Val183=) n.1569G>T | |
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 |