Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.55261487_55261491delCA658683053TCF4c.965_969del (p.Asp322AlafsTer15)
c.485_489del (p.Asp162AlafsTer15)
n.645_649del
c.893_897del (p.Asp298AlafsTer15)
c.*673_*677del (n.*673_*677del)
c.575_579del (p.Asp192AlafsTer15)
c.*855_*859del (n.*855_*859del)
c.317_321del (p.Asp106AlafsTer15)
n.1032_1036del
n.659_663del
c.563_567del
c.995_999del (p.Asp332AlafsTer15)
c.*576_*580del (n.*576_*580del)
c.1271_1275del (p.Asp424AlafsTer15)
c.839_843del (p.Asp280AlafsTer15)
c.752_756del (p.Asp251AlafsTer15)
n.1056_1060del
n.557_561del
c.983_987del (p.Asp328AlafsTer15)
c.713_717del (p.Asp238AlafsTer15)
c.785_789del (p.Asp262AlafsTer15)
c.959_963del (p.Asp320AlafsTer15)
c.890_894del (p.Asp297AlafsTer15)
c.229_233del
n.566_570del
c.575_579del (p.Asp192AlafsTer?)
n.62_66del
c.*108_*112del (n.*108_*112del)
c.962_966del (p.Asp321AlafsTer15)
c.755_759del (p.Asp252AlafsTer15)
c.1268_1272del (p.Asp423AlafsTer15)
c.728_732del (p.Asp243AlafsTer15)
18g.55261488G>ACA275967TCF4c.968C>T (p.Ala323Val)
c.488C>T (p.Ala163Val)
n.648C>T
c.896C>T (p.Ala299Val)
c.*676C>T (n.*676C>T)
c.578C>T (p.Ala193Val)
c.*858C>T (n.*858C>T)
c.320C>T (p.Ala107Val)
n.1035C>T
n.662C>T
c.566C>T
c.998C>T (p.Ala333Val)
c.*579C>T (n.*579C>T)
c.1274C>T (p.Ala425Val)
c.842C>T (p.Ala281Val)
c.755C>T (p.Ala252Val)
n.1059C>T
n.560C>T
c.986C>T (p.Ala329Val)
c.716C>T (p.Ala239Val)
c.788C>T (p.Ala263Val)
c.962C>T (p.Ala321Val)
c.893C>T (p.Ala298Val)
c.232C>T
n.569C>T
n.65C>T
c.*111C>T (n.*111C>T)
c.965C>T (p.Ala322Val)
c.758C>T (p.Ala253Val)
c.1271C>T (p.Ala424Val)
c.731C>T (p.Ala244Val)
 ClinVar dbSNP
18g.55261488G>CCA402535105TCF4c.968C>G (p.Ala323Gly)
c.488C>G (p.Ala163Gly)
n.648C>G
c.896C>G (p.Ala299Gly)
c.*676C>G (n.*676C>G)
c.578C>G (p.Ala193Gly)
c.*858C>G (n.*858C>G)
c.320C>G (p.Ala107Gly)
n.1035C>G
n.662C>G
c.566C>G
c.998C>G (p.Ala333Gly)
c.*579C>G (n.*579C>G)
c.1274C>G (p.Ala425Gly)
c.842C>G (p.Ala281Gly)
c.755C>G (p.Ala252Gly)
n.1059C>G
n.560C>G
c.986C>G (p.Ala329Gly)
c.716C>G (p.Ala239Gly)
c.788C>G (p.Ala263Gly)
c.962C>G (p.Ala321Gly)
c.893C>G (p.Ala298Gly)
c.232C>G
n.569C>G
n.65C>G
c.*111C>G (n.*111C>G)
c.965C>G (p.Ala322Gly)
c.758C>G (p.Ala253Gly)
c.1271C>G (p.Ala424Gly)
c.731C>G (p.Ala244Gly)
18g.55261488G=CA2305019166TCF4c.968C= (p.Ala323=)
c.488C= (p.Ala163=)
n.648C=
c.896C= (p.Ala299=)
c.*676C= (n.*676C=)
c.578C= (p.Ala193=)
c.*858C= (n.*858C=)
c.320C= (p.Ala107=)
n.1035C=
n.662C=
c.566C=
c.998C= (p.Ala333=)
c.*579C= (n.*579C=)
c.1274C= (p.Ala425=)
c.842C= (p.Ala281=)
c.755C= (p.Ala252=)
n.1059C=
n.560C=
c.986C= (p.Ala329=)
c.716C= (p.Ala239=)
c.788C= (p.Ala263=)
c.962C= (p.Ala321=)
c.893C= (p.Ala298=)
c.232C=
n.569C=
n.65C=
c.*111C= (n.*111C=)
c.965C= (p.Ala322=)
c.758C= (p.Ala253=)
c.1271C= (p.Ala424=)
c.731C= (p.Ala244=)
18g.55261488G>TCA402535107TCF4c.968C>A (p.Ala323Asp)
c.488C>A (p.Ala163Asp)
n.648C>A
c.896C>A (p.Ala299Asp)
c.*676C>A (n.*676C>A)
c.578C>A (p.Ala193Asp)
c.*858C>A (n.*858C>A)
c.320C>A (p.Ala107Asp)
n.1035C>A
n.662C>A
c.566C>A
c.998C>A (p.Ala333Asp)
c.*579C>A (n.*579C>A)
c.1274C>A (p.Ala425Asp)
c.842C>A (p.Ala281Asp)
c.755C>A (p.Ala252Asp)
n.1059C>A
n.560C>A
c.986C>A (p.Ala329Asp)
c.716C>A (p.Ala239Asp)
c.788C>A (p.Ala263Asp)
c.962C>A (p.Ala321Asp)
c.893C>A (p.Ala298Asp)
c.232C>A
n.569C>A
n.65C>A
c.*111C>A (n.*111C>A)
c.965C>A (p.Ala322Asp)
c.758C>A (p.Ala253Asp)
c.1271C>A (p.Ala424Asp)
c.731C>A (p.Ala244Asp)
18g.55261489C>ACA402535109TCF4c.967G>T (p.Ala323Ser)
c.487G>T (p.Ala163Ser)
n.647G>T
c.895G>T (p.Ala299Ser)
c.*675G>T (n.*675G>T)
c.577G>T (p.Ala193Ser)
c.*857G>T (n.*857G>T)
c.319G>T (p.Ala107Ser)
n.1034G>T
n.661G>T
c.565G>T
c.997G>T (p.Ala333Ser)
c.*578G>T (n.*578G>T)
c.1273G>T (p.Ala425Ser)
c.841G>T (p.Ala281Ser)
c.754G>T (p.Ala252Ser)
n.1058G>T
n.559G>T
c.985G>T (p.Ala329Ser)
c.715G>T (p.Ala239Ser)
c.787G>T (p.Ala263Ser)
c.961G>T (p.Ala321Ser)
c.892G>T (p.Ala298Ser)
c.231G>T
n.568G>T
n.64G>T
c.*110G>T (n.*110G>T)
c.964G>T (p.Ala322Ser)
c.757G>T (p.Ala253Ser)
c.1270G>T (p.Ala424Ser)
c.730G>T (p.Ala244Ser)
18g.55261489C>GCA402535111TCF4c.967G>C (p.Ala323Pro)
c.487G>C (p.Ala163Pro)
n.647G>C
c.895G>C (p.Ala299Pro)
c.*675G>C (n.*675G>C)
c.577G>C (p.Ala193Pro)
c.*857G>C (n.*857G>C)
c.319G>C (p.Ala107Pro)
n.1034G>C
n.661G>C
c.565G>C
c.997G>C (p.Ala333Pro)
c.*578G>C (n.*578G>C)
c.1273G>C (p.Ala425Pro)
c.841G>C (p.Ala281Pro)
c.754G>C (p.Ala252Pro)
n.1058G>C
n.559G>C
c.985G>C (p.Ala329Pro)
c.715G>C (p.Ala239Pro)
c.787G>C (p.Ala263Pro)
c.961G>C (p.Ala321Pro)
c.892G>C (p.Ala298Pro)
c.231G>C
n.568G>C
n.64G>C
c.*110G>C (n.*110G>C)
c.964G>C (p.Ala322Pro)
c.757G>C (p.Ala253Pro)
c.1270G>C (p.Ala424Pro)
c.730G>C (p.Ala244Pro)
18g.55261489C>TCA402535113TCF4c.967G>A (p.Ala323Thr)
c.487G>A (p.Ala163Thr)
n.647G>A
c.895G>A (p.Ala299Thr)
c.*675G>A (n.*675G>A)
c.577G>A (p.Ala193Thr)
c.*857G>A (n.*857G>A)
c.319G>A (p.Ala107Thr)
n.1034G>A
n.661G>A
c.565G>A
c.997G>A (p.Ala333Thr)
c.*578G>A (n.*578G>A)
c.1273G>A (p.Ala425Thr)
c.841G>A (p.Ala281Thr)
c.754G>A (p.Ala252Thr)
n.1058G>A
n.559G>A
c.985G>A (p.Ala329Thr)
c.715G>A (p.Ala239Thr)
c.787G>A (p.Ala263Thr)
c.961G>A (p.Ala321Thr)
c.892G>A (p.Ala298Thr)
c.231G>A
n.568G>A
n.64G>A
c.*110G>A (n.*110G>A)
c.964G>A (p.Ala322Thr)
c.757G>A (p.Ala253Thr)
c.1270G>A (p.Ala424Thr)
c.730G>A (p.Ala244Thr)
 gnomAD v4
18g.55261490A=CA2305019167TCF4c.966T= (p.Asp322=)
c.486T= (p.Asp162=)
n.646T=
c.894T= (p.Asp298=)
c.*674T= (n.*674T=)
c.576T= (p.Asp192=)
c.*856T= (n.*856T=)
c.318T= (p.Asp106=)
n.1033T=
n.660T=
c.564T=
c.996T= (p.Asp332=)
c.*577T= (n.*577T=)
c.1272T= (p.Asp424=)
c.840T= (p.Asp280=)
c.753T= (p.Asp251=)
n.1057T=
n.558T=
c.984T= (p.Asp328=)
c.714T= (p.Asp238=)
c.786T= (p.Asp262=)
c.960T= (p.Asp320=)
c.891T= (p.Asp297=)
c.230T=
n.567T=
n.63T=
c.*109T= (n.*109T=)
c.963T= (p.Asp321=)
c.756T= (p.Asp252=)
c.1269T= (p.Asp423=)
c.729T= (p.Asp243=)
18g.55261490A>CCA402535115TCF4c.966T>G (p.Asp322Glu)
c.486T>G (p.Asp162Glu)
n.646T>G
c.894T>G (p.Asp298Glu)
c.*674T>G (n.*674T>G)
c.576T>G (p.Asp192Glu)
c.*856T>G (n.*856T>G)
c.318T>G (p.Asp106Glu)
n.1033T>G
n.660T>G
c.564T>G
c.996T>G (p.Asp332Glu)
c.*577T>G (n.*577T>G)
c.1272T>G (p.Asp424Glu)
c.840T>G (p.Asp280Glu)
c.753T>G (p.Asp251Glu)
n.1057T>G
n.558T>G
c.984T>G (p.Asp328Glu)
c.714T>G (p.Asp238Glu)
c.786T>G (p.Asp262Glu)
c.960T>G (p.Asp320Glu)
c.891T>G (p.Asp297Glu)
c.230T>G
n.567T>G
n.63T>G
c.*109T>G (n.*109T>G)
c.963T>G (p.Asp321Glu)
c.756T>G (p.Asp252Glu)
c.1269T>G (p.Asp423Glu)
c.729T>G (p.Asp243Glu)
18g.55261490A>GCA293882TCF4c.966T>C (p.Asp322=)
c.486T>C (p.Asp162=)
n.646T>C
c.894T>C (p.Asp298=)
c.*674T>C (n.*674T>C)
c.576T>C (p.Asp192=)
c.*856T>C (n.*856T>C)
c.318T>C (p.Asp106=)
n.1033T>C
n.660T>C
c.564T>C
c.996T>C (p.Asp332=)
c.*577T>C (n.*577T>C)
c.1272T>C (p.Asp424=)
c.840T>C (p.Asp280=)
c.753T>C (p.Asp251=)
n.1057T>C
n.558T>C
c.984T>C (p.Asp328=)
c.714T>C (p.Asp238=)
c.786T>C (p.Asp262=)
c.960T>C (p.Asp320=)
c.891T>C (p.Asp297=)
c.230T>C
n.567T>C
n.63T>C
c.*109T>C (n.*109T>C)
c.963T>C (p.Asp321=)
c.756T>C (p.Asp252=)
c.1269T>C (p.Asp423=)
c.729T>C (p.Asp243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.55261490A>TCA402535118TCF4c.966T>A (p.Asp322Glu)
c.486T>A (p.Asp162Glu)
n.646T>A
c.894T>A (p.Asp298Glu)
c.*674T>A (n.*674T>A)
c.576T>A (p.Asp192Glu)
c.*856T>A (n.*856T>A)
c.318T>A (p.Asp106Glu)
n.1033T>A
n.660T>A
c.564T>A
c.996T>A (p.Asp332Glu)
c.*577T>A (n.*577T>A)
c.1272T>A (p.Asp424Glu)
c.840T>A (p.Asp280Glu)
c.753T>A (p.Asp251Glu)
n.1057T>A
n.558T>A
c.984T>A (p.Asp328Glu)
c.714T>A (p.Asp238Glu)
c.786T>A (p.Asp262Glu)
c.960T>A (p.Asp320Glu)
c.891T>A (p.Asp297Glu)
c.230T>A
n.567T>A
n.63T>A
c.*109T>A (n.*109T>A)
c.963T>A (p.Asp321Glu)
c.756T>A (p.Asp252Glu)
c.1269T>A (p.Asp423Glu)
c.729T>A (p.Asp243Glu)
18g.55261491T>ACA402535120TCF4c.965A>T (p.Asp322Val)
c.485A>T (p.Asp162Val)
n.645A>T
c.893A>T (p.Asp298Val)
c.*673A>T (n.*673A>T)
c.575A>T (p.Asp192Val)
c.*855A>T (n.*855A>T)
c.317A>T (p.Asp106Val)
n.1032A>T
n.659A>T
c.563A>T
c.995A>T (p.Asp332Val)
c.*576A>T (n.*576A>T)
c.1271A>T (p.Asp424Val)
c.839A>T (p.Asp280Val)
c.752A>T (p.Asp251Val)
n.1056A>T
n.557A>T
c.983A>T (p.Asp328Val)
c.713A>T (p.Asp238Val)
c.785A>T (p.Asp262Val)
c.959A>T (p.Asp320Val)
c.890A>T (p.Asp297Val)
c.229A>T
n.566A>T
n.62A>T
c.*108A>T (n.*108A>T)
c.962A>T (p.Asp321Val)
c.755A>T (p.Asp252Val)
c.1268A>T (p.Asp423Val)
c.728A>T (p.Asp243Val)
18g.55261491T>CCA402535122TCF4c.965A>G (p.Asp322Gly)
c.485A>G (p.Asp162Gly)
n.645A>G
c.893A>G (p.Asp298Gly)
c.*673A>G (n.*673A>G)
c.575A>G (p.Asp192Gly)
c.*855A>G (n.*855A>G)
c.317A>G (p.Asp106Gly)
n.1032A>G
n.659A>G
c.563A>G
c.995A>G (p.Asp332Gly)
c.*576A>G (n.*576A>G)
c.1271A>G (p.Asp424Gly)
c.839A>G (p.Asp280Gly)
c.752A>G (p.Asp251Gly)
n.1056A>G
n.557A>G
c.983A>G (p.Asp328Gly)
c.713A>G (p.Asp238Gly)
c.785A>G (p.Asp262Gly)
c.959A>G (p.Asp320Gly)
c.890A>G (p.Asp297Gly)
c.229A>G
n.566A>G
n.62A>G
c.*108A>G (n.*108A>G)
c.962A>G (p.Asp321Gly)
c.755A>G (p.Asp252Gly)
c.1268A>G (p.Asp423Gly)
c.728A>G (p.Asp243Gly)
18g.55261491T>GCA402535123TCF4c.965A>C (p.Asp322Ala)
c.485A>C (p.Asp162Ala)
n.645A>C
c.893A>C (p.Asp298Ala)
c.*673A>C (n.*673A>C)
c.575A>C (p.Asp192Ala)
c.*855A>C (n.*855A>C)
c.317A>C (p.Asp106Ala)
n.1032A>C
n.659A>C
c.563A>C
c.995A>C (p.Asp332Ala)
c.*576A>C (n.*576A>C)
c.1271A>C (p.Asp424Ala)
c.839A>C (p.Asp280Ala)
c.752A>C (p.Asp251Ala)
n.1056A>C
n.557A>C
c.983A>C (p.Asp328Ala)
c.713A>C (p.Asp238Ala)
c.785A>C (p.Asp262Ala)
c.959A>C (p.Asp320Ala)
c.890A>C (p.Asp297Ala)
c.229A>C
n.566A>C
n.62A>C
c.*108A>C (n.*108A>C)
c.962A>C (p.Asp321Ala)
c.755A>C (p.Asp252Ala)
c.1268A>C (p.Asp423Ala)
c.728A>C (p.Asp243Ala)
18g.55261492C>ACA402535129TCF4c.964G>T (p.Asp322Tyr)
c.484G>T (p.Asp162Tyr)
n.644G>T
c.892G>T (p.Asp298Tyr)
c.*672G>T (n.*672G>T)
c.574G>T (p.Asp192Tyr)
c.*854G>T (n.*854G>T)
c.316G>T (p.Asp106Tyr)
n.1031G>T
n.658G>T
c.562G>T
c.994G>T (p.Asp332Tyr)
c.*575G>T (n.*575G>T)
c.1270G>T (p.Asp424Tyr)
c.838G>T (p.Asp280Tyr)
c.751G>T (p.Asp251Tyr)
n.1055G>T
n.556G>T
c.982G>T (p.Asp328Tyr)
c.712G>T (p.Asp238Tyr)
c.784G>T (p.Asp262Tyr)
c.958G>T (p.Asp320Tyr)
c.889G>T (p.Asp297Tyr)
c.228G>T
n.565G>T
n.61G>T
c.*107G>T (n.*107G>T)
c.961G>T (p.Asp321Tyr)
c.754G>T (p.Asp252Tyr)
c.1267G>T (p.Asp423Tyr)
c.727G>T (p.Asp243Tyr)
 COSMIC COSMIC COSMIC
18g.55261492C>GCA402535127TCF4c.964G>C (p.Asp322His)
c.484G>C (p.Asp162His)
n.644G>C
c.892G>C (p.Asp298His)
c.*672G>C (n.*672G>C)
c.574G>C (p.Asp192His)
c.*854G>C (n.*854G>C)
c.316G>C (p.Asp106His)
n.1031G>C
n.658G>C
c.562G>C
c.994G>C (p.Asp332His)
c.*575G>C (n.*575G>C)
c.1270G>C (p.Asp424His)
c.838G>C (p.Asp280His)
c.751G>C (p.Asp251His)
n.1055G>C
n.556G>C
c.982G>C (p.Asp328His)
c.712G>C (p.Asp238His)
c.784G>C (p.Asp262His)
c.958G>C (p.Asp320His)
c.889G>C (p.Asp297His)
c.228G>C
n.565G>C
n.61G>C
c.*107G>C (n.*107G>C)
c.961G>C (p.Asp321His)
c.754G>C (p.Asp252His)
c.1267G>C (p.Asp423His)
c.727G>C (p.Asp243His)
18g.55261492C>TCA402535125TCF4c.964G>A (p.Asp322Asn)
c.484G>A (p.Asp162Asn)
n.644G>A
c.892G>A (p.Asp298Asn)
c.*672G>A (n.*672G>A)
c.574G>A (p.Asp192Asn)
c.*854G>A (n.*854G>A)
c.316G>A (p.Asp106Asn)
n.1031G>A
n.658G>A
c.562G>A
c.994G>A (p.Asp332Asn)
c.*575G>A (n.*575G>A)
c.1270G>A (p.Asp424Asn)
c.838G>A (p.Asp280Asn)
c.751G>A (p.Asp251Asn)
n.1055G>A
n.556G>A
c.982G>A (p.Asp328Asn)
c.712G>A (p.Asp238Asn)
c.784G>A (p.Asp262Asn)
c.958G>A (p.Asp320Asn)
c.889G>A (p.Asp297Asn)
c.228G>A
n.565G>A
n.61G>A
c.*107G>A (n.*107G>A)
c.961G>A (p.Asp321Asn)
c.754G>A (p.Asp252Asn)
c.1267G>A (p.Asp423Asn)
c.727G>A (p.Asp243Asn)
18g.55261493T>ACA504008168TCF4c.963A>T (p.Gly321=)
c.483A>T (p.Gly161=)
n.643A>T
c.891A>T (p.Gly297=)
c.*671A>T (n.*671A>T)
c.573A>T (p.Gly191=)
c.*853A>T (n.*853A>T)
c.315A>T (p.Gly105=)
n.1030A>T
n.657A>T
c.561A>T
c.993A>T (p.Gly331=)
c.*574A>T (n.*574A>T)
c.1269A>T (p.Gly423=)
c.837A>T (p.Gly279=)
c.750A>T (p.Gly250=)
n.1054A>T
n.555A>T
c.981A>T (p.Gly327=)
c.711A>T (p.Gly237=)
c.783A>T (p.Gly261=)
c.957A>T (p.Gly319=)
c.888A>T (p.Gly296=)
c.227A>T
n.564A>T
n.60A>T
c.*106A>T (n.*106A>T)
c.960A>T (p.Gly320=)
c.753A>T (p.Gly251=)
c.1266A>T (p.Gly422=)
c.726A>T (p.Gly242=)
18g.55261493T>CCA504008169TCF4c.963A>G (p.Gly321=)
c.483A>G (p.Gly161=)
n.643A>G
c.891A>G (p.Gly297=)
c.*671A>G (n.*671A>G)
c.573A>G (p.Gly191=)
c.*853A>G (n.*853A>G)
c.315A>G (p.Gly105=)
n.1030A>G
n.657A>G
c.561A>G
c.993A>G (p.Gly331=)
c.*574A>G (n.*574A>G)
c.1269A>G (p.Gly423=)
c.837A>G (p.Gly279=)
c.750A>G (p.Gly250=)
n.1054A>G
n.555A>G
c.981A>G (p.Gly327=)
c.711A>G (p.Gly237=)
c.783A>G (p.Gly261=)
c.957A>G (p.Gly319=)
c.888A>G (p.Gly296=)
c.227A>G
n.564A>G
n.60A>G
c.*106A>G (n.*106A>G)
c.960A>G (p.Gly320=)
c.753A>G (p.Gly251=)
c.1266A>G (p.Gly422=)
c.726A>G (p.Gly242=)
18g.55261493T>GCA504008170TCF4c.963A>C (p.Gly321=)
c.483A>C (p.Gly161=)
n.643A>C
c.891A>C (p.Gly297=)
c.*671A>C (n.*671A>C)
c.573A>C (p.Gly191=)
c.*853A>C (n.*853A>C)
c.315A>C (p.Gly105=)
n.1030A>C
n.657A>C
c.561A>C
c.993A>C (p.Gly331=)
c.*574A>C (n.*574A>C)
c.1269A>C (p.Gly423=)
c.837A>C (p.Gly279=)
c.750A>C (p.Gly250=)
n.1054A>C
n.555A>C
c.981A>C (p.Gly327=)
c.711A>C (p.Gly237=)
c.783A>C (p.Gly261=)
c.957A>C (p.Gly319=)
c.888A>C (p.Gly296=)
c.227A>C
n.564A>C
n.60A>C
c.*106A>C (n.*106A>C)
c.960A>C (p.Gly320=)
c.753A>C (p.Gly251=)
c.1266A>C (p.Gly422=)
c.726A>C (p.Gly242=)
18g.55261494C>ACA402535130TCF4c.962G>T (p.Gly321Val)
c.482G>T (p.Gly161Val)
n.642G>T
c.890G>T (p.Gly297Val)
c.*670G>T (n.*670G>T)
c.572G>T (p.Gly191Val)
c.*852G>T (n.*852G>T)
c.314G>T (p.Gly105Val)
n.1029G>T
n.656G>T
c.560G>T
c.992G>T (p.Gly331Val)
c.*573G>T (n.*573G>T)
c.1268G>T (p.Gly423Val)
c.836G>T (p.Gly279Val)
c.749G>T (p.Gly250Val)
n.1053G>T
n.554G>T
c.980G>T (p.Gly327Val)
c.710G>T (p.Gly237Val)
c.782G>T (p.Gly261Val)
c.956G>T (p.Gly319Val)
c.887G>T (p.Gly296Val)
c.226G>T
n.563G>T
n.59G>T
c.*105G>T (n.*105G>T)
c.959G>T (p.Gly320Val)
c.752G>T (p.Gly251Val)
c.1265G>T (p.Gly422Val)
c.725G>T (p.Gly242Val)
18g.55261494C>GCA402535131TCF4c.962G>C (p.Gly321Ala)
c.482G>C (p.Gly161Ala)
n.642G>C
c.890G>C (p.Gly297Ala)
c.*670G>C (n.*670G>C)
c.572G>C (p.Gly191Ala)
c.*852G>C (n.*852G>C)
c.314G>C (p.Gly105Ala)
n.1029G>C
n.656G>C
c.560G>C
c.992G>C (p.Gly331Ala)
c.*573G>C (n.*573G>C)
c.1268G>C (p.Gly423Ala)
c.836G>C (p.Gly279Ala)
c.749G>C (p.Gly250Ala)
n.1053G>C
n.554G>C
c.980G>C (p.Gly327Ala)
c.710G>C (p.Gly237Ala)
c.782G>C (p.Gly261Ala)
c.956G>C (p.Gly319Ala)
c.887G>C (p.Gly296Ala)
c.226G>C
n.563G>C
n.59G>C
c.*105G>C (n.*105G>C)
c.959G>C (p.Gly320Ala)
c.752G>C (p.Gly251Ala)
c.1265G>C (p.Gly422Ala)
c.725G>C (p.Gly242Ala)
18g.55261494C>TCA402535134TCF4c.962G>A (p.Gly321Glu)
c.482G>A (p.Gly161Glu)
n.642G>A
c.890G>A (p.Gly297Glu)
c.*670G>A (n.*670G>A)
c.572G>A (p.Gly191Glu)
c.*852G>A (n.*852G>A)
c.314G>A (p.Gly105Glu)
n.1029G>A
n.656G>A
c.560G>A
c.992G>A (p.Gly331Glu)
c.*573G>A (n.*573G>A)
c.1268G>A (p.Gly423Glu)
c.836G>A (p.Gly279Glu)
c.749G>A (p.Gly250Glu)
n.1053G>A
n.554G>A
c.980G>A (p.Gly327Glu)
c.710G>A (p.Gly237Glu)
c.782G>A (p.Gly261Glu)
c.956G>A (p.Gly319Glu)
c.887G>A (p.Gly296Glu)
c.226G>A
n.563G>A
n.59G>A
c.*105G>A (n.*105G>A)
c.959G>A (p.Gly320Glu)
c.752G>A (p.Gly251Glu)
c.1265G>A (p.Gly422Glu)
c.725G>A (p.Gly242Glu)
18g.55261495C>ACA402535136TCF4c.961G>T (p.Gly321Ter)
c.481G>T (p.Gly161Ter)
n.641G>T
c.889G>T (p.Gly297Ter)
c.*669G>T (n.*669G>T)
c.571G>T (p.Gly191Ter)
c.*851G>T (n.*851G>T)
c.313G>T (p.Gly105Ter)
n.1028G>T
n.655G>T
c.559G>T
c.991G>T (p.Gly331Ter)
c.*572G>T (n.*572G>T)
c.1267G>T (p.Gly423Ter)
c.835G>T (p.Gly279Ter)
c.748G>T (p.Gly250Ter)
n.1052G>T
n.553G>T
c.979G>T (p.Gly327Ter)
c.709G>T (p.Gly237Ter)
c.781G>T (p.Gly261Ter)
c.955G>T (p.Gly319Ter)
c.886G>T (p.Gly296Ter)
c.225G>T
n.562G>T
n.58G>T
c.*104G>T (n.*104G>T)
c.958G>T (p.Gly320Ter)
c.751G>T (p.Gly251Ter)
c.1264G>T (p.Gly422Ter)
c.724G>T (p.Gly242Ter)
18g.55261495C>GCA402535137TCF4c.961G>C (p.Gly321Arg)
c.481G>C (p.Gly161Arg)
n.641G>C
c.889G>C (p.Gly297Arg)
c.*669G>C (n.*669G>C)
c.571G>C (p.Gly191Arg)
c.*851G>C (n.*851G>C)
c.313G>C (p.Gly105Arg)
n.1028G>C
n.655G>C
c.559G>C
c.991G>C (p.Gly331Arg)
c.*572G>C (n.*572G>C)
c.1267G>C (p.Gly423Arg)
c.835G>C (p.Gly279Arg)
c.748G>C (p.Gly250Arg)
n.1052G>C
n.553G>C
c.979G>C (p.Gly327Arg)
c.709G>C (p.Gly237Arg)
c.781G>C (p.Gly261Arg)
c.955G>C (p.Gly319Arg)
c.886G>C (p.Gly296Arg)
c.225G>C
n.562G>C
n.58G>C
c.*104G>C (n.*104G>C)
c.958G>C (p.Gly320Arg)
c.751G>C (p.Gly251Arg)
c.1264G>C (p.Gly422Arg)
c.724G>C (p.Gly242Arg)
18g.55261495C>TCA402535139TCF4c.961G>A (p.Gly321Arg)
c.481G>A (p.Gly161Arg)
n.641G>A
c.889G>A (p.Gly297Arg)
c.*669G>A (n.*669G>A)
c.571G>A (p.Gly191Arg)
c.*851G>A (n.*851G>A)
c.313G>A (p.Gly105Arg)
n.1028G>A
n.655G>A
c.559G>A
c.991G>A (p.Gly331Arg)
c.*572G>A (n.*572G>A)
c.1267G>A (p.Gly423Arg)
c.835G>A (p.Gly279Arg)
c.748G>A (p.Gly250Arg)
n.1052G>A
n.553G>A
c.979G>A (p.Gly327Arg)
c.709G>A (p.Gly237Arg)
c.781G>A (p.Gly261Arg)
c.955G>A (p.Gly319Arg)
c.886G>A (p.Gly296Arg)
c.225G>A
n.562G>A
n.58G>A
c.*104G>A (n.*104G>A)
c.958G>A (p.Gly320Arg)
c.751G>A (p.Gly251Arg)
c.1264G>A (p.Gly422Arg)
c.724G>A (p.Gly242Arg)
18g.55261496A>CCA504008173TCF4c.960T>G (p.Thr320=)
c.480T>G (p.Thr160=)
n.640T>G
c.888T>G (p.Thr296=)
c.*668T>G (n.*668T>G)
c.570T>G (p.Thr190=)
c.*850T>G (n.*850T>G)
c.312T>G (p.Thr104=)
n.1027T>G
n.654T>G
c.558T>G
c.990T>G (p.Thr330=)
c.*571T>G (n.*571T>G)
c.1266T>G (p.Thr422=)
c.834T>G (p.Thr278=)
c.747T>G (p.Thr249=)
n.1051T>G
n.552T>G
c.978T>G (p.Thr326=)
c.708T>G (p.Thr236=)
c.780T>G (p.Thr260=)
c.954T>G (p.Thr318=)
c.885T>G (p.Thr295=)
c.224T>G
n.561T>G
n.57T>G
c.*103T>G (n.*103T>G)
c.957T>G (p.Thr319=)
c.750T>G (p.Thr250=)
c.1263T>G (p.Thr421=)
c.723T>G (p.Thr241=)
18g.55261496A>GCA504008172TCF4c.960T>C (p.Thr320=)
c.480T>C (p.Thr160=)
n.640T>C
c.888T>C (p.Thr296=)
c.*668T>C (n.*668T>C)
c.570T>C (p.Thr190=)
c.*850T>C (n.*850T>C)
c.312T>C (p.Thr104=)
n.1027T>C
n.654T>C
c.558T>C
c.990T>C (p.Thr330=)
c.*571T>C (n.*571T>C)
c.1266T>C (p.Thr422=)
c.834T>C (p.Thr278=)
c.747T>C (p.Thr249=)
n.1051T>C
n.552T>C
c.978T>C (p.Thr326=)
c.708T>C (p.Thr236=)
c.780T>C (p.Thr260=)
c.954T>C (p.Thr318=)
c.885T>C (p.Thr295=)
c.224T>C
n.561T>C
n.57T>C
c.*103T>C (n.*103T>C)
c.957T>C (p.Thr319=)
c.750T>C (p.Thr250=)
c.1263T>C (p.Thr421=)
c.723T>C (p.Thr241=)
18g.55261496A>TCA504008171TCF4c.960T>A (p.Thr320=)
c.480T>A (p.Thr160=)
n.640T>A
c.888T>A (p.Thr296=)
c.*668T>A (n.*668T>A)
c.570T>A (p.Thr190=)
c.*850T>A (n.*850T>A)
c.312T>A (p.Thr104=)
n.1027T>A
n.654T>A
c.558T>A
c.990T>A (p.Thr330=)
c.*571T>A (n.*571T>A)
c.1266T>A (p.Thr422=)
c.834T>A (p.Thr278=)
c.747T>A (p.Thr249=)
n.1051T>A
n.552T>A
c.978T>A (p.Thr326=)
c.708T>A (p.Thr236=)
c.780T>A (p.Thr260=)
c.954T>A (p.Thr318=)
c.885T>A (p.Thr295=)
c.224T>A
n.561T>A
n.57T>A
c.*103T>A (n.*103T>A)
c.957T>A (p.Thr319=)
c.750T>A (p.Thr250=)
c.1263T>A (p.Thr421=)
c.723T>A (p.Thr241=)
18g.55261497G>ACA402535145TCF4c.959C>T (p.Thr320Ile)
c.479C>T (p.Thr160Ile)
n.639C>T
c.887C>T (p.Thr296Ile)
c.*667C>T (n.*667C>T)
c.569C>T (p.Thr190Ile)
c.*849C>T (n.*849C>T)
c.311C>T (p.Thr104Ile)
n.1026C>T
n.653C>T
c.557C>T
c.989C>T (p.Thr330Ile)
c.*570C>T (n.*570C>T)
c.1265C>T (p.Thr422Ile)
c.833C>T (p.Thr278Ile)
c.746C>T (p.Thr249Ile)
n.1050C>T
n.551C>T
c.977C>T (p.Thr326Ile)
c.707C>T (p.Thr236Ile)
c.779C>T (p.Thr260Ile)
c.953C>T (p.Thr318Ile)
c.884C>T (p.Thr295Ile)
c.223C>T
n.560C>T
n.56C>T
c.*102C>T (n.*102C>T)
c.956C>T (p.Thr319Ile)
c.749C>T (p.Thr250Ile)
c.1262C>T (p.Thr421Ile)
c.722C>T (p.Thr241Ile)
 ClinVar
18g.55261497G>CCA402535142TCF4c.959C>G (p.Thr320Ser)
c.479C>G (p.Thr160Ser)
n.639C>G
c.887C>G (p.Thr296Ser)
c.*667C>G (n.*667C>G)
c.569C>G (p.Thr190Ser)
c.*849C>G (n.*849C>G)
c.311C>G (p.Thr104Ser)
n.1026C>G
n.653C>G
c.557C>G
c.989C>G (p.Thr330Ser)
c.*570C>G (n.*570C>G)
c.1265C>G (p.Thr422Ser)
c.833C>G (p.Thr278Ser)
c.746C>G (p.Thr249Ser)
n.1050C>G
n.551C>G
c.977C>G (p.Thr326Ser)
c.707C>G (p.Thr236Ser)
c.779C>G (p.Thr260Ser)
c.953C>G (p.Thr318Ser)
c.884C>G (p.Thr295Ser)
c.223C>G
n.560C>G
n.56C>G
c.*102C>G (n.*102C>G)
c.956C>G (p.Thr319Ser)
c.749C>G (p.Thr250Ser)
c.1262C>G (p.Thr421Ser)
c.722C>G (p.Thr241Ser)
18g.55261497G>TCA402535143TCF4c.959C>A (p.Thr320Asn)
c.479C>A (p.Thr160Asn)
n.639C>A
c.887C>A (p.Thr296Asn)
c.*667C>A (n.*667C>A)
c.569C>A (p.Thr190Asn)
c.*849C>A (n.*849C>A)
c.311C>A (p.Thr104Asn)
n.1026C>A
n.653C>A
c.557C>A
c.989C>A (p.Thr330Asn)
c.*570C>A (n.*570C>A)
c.1265C>A (p.Thr422Asn)
c.833C>A (p.Thr278Asn)
c.746C>A (p.Thr249Asn)
n.1050C>A
n.551C>A
c.977C>A (p.Thr326Asn)
c.707C>A (p.Thr236Asn)
c.779C>A (p.Thr260Asn)
c.953C>A (p.Thr318Asn)
c.884C>A (p.Thr295Asn)
c.223C>A
n.560C>A
n.56C>A
c.*102C>A (n.*102C>A)
c.956C>A (p.Thr319Asn)
c.749C>A (p.Thr250Asn)
c.1262C>A (p.Thr421Asn)
c.722C>A (p.Thr241Asn)
18g.55261498T>ACA402535147TCF4c.958A>T (p.Thr320Ser)
c.478A>T (p.Thr160Ser)
n.638A>T
c.886A>T (p.Thr296Ser)
c.*666A>T (n.*666A>T)
c.568A>T (p.Thr190Ser)
c.*848A>T (n.*848A>T)
c.310A>T (p.Thr104Ser)
n.1025A>T
n.652A>T
c.556A>T
c.988A>T (p.Thr330Ser)
c.*569A>T (n.*569A>T)
c.1264A>T (p.Thr422Ser)
c.832A>T (p.Thr278Ser)
c.745A>T (p.Thr249Ser)
n.1049A>T
n.550A>T
c.976A>T (p.Thr326Ser)
c.706A>T (p.Thr236Ser)
c.778A>T (p.Thr260Ser)
c.952A>T (p.Thr318Ser)
c.883A>T (p.Thr295Ser)
c.222A>T
n.559A>T
n.55A>T
c.*101A>T (n.*101A>T)
c.955A>T (p.Thr319Ser)
c.748A>T (p.Thr250Ser)
c.1261A>T (p.Thr421Ser)
c.721A>T (p.Thr241Ser)
18g.55261498T>CCA402535149TCF4c.958A>G (p.Thr320Ala)
c.478A>G (p.Thr160Ala)
n.638A>G
c.886A>G (p.Thr296Ala)
c.*666A>G (n.*666A>G)
c.568A>G (p.Thr190Ala)
c.*848A>G (n.*848A>G)
c.310A>G (p.Thr104Ala)
n.1025A>G
n.652A>G
c.556A>G
c.988A>G (p.Thr330Ala)
c.*569A>G (n.*569A>G)
c.1264A>G (p.Thr422Ala)
c.832A>G (p.Thr278Ala)
c.745A>G (p.Thr249Ala)
n.1049A>G
n.550A>G
c.976A>G (p.Thr326Ala)
c.706A>G (p.Thr236Ala)
c.778A>G (p.Thr260Ala)
c.952A>G (p.Thr318Ala)
c.883A>G (p.Thr295Ala)
c.222A>G
n.559A>G
n.55A>G
c.*101A>G (n.*101A>G)
c.955A>G (p.Thr319Ala)
c.748A>G (p.Thr250Ala)
c.1261A>G (p.Thr421Ala)
c.721A>G (p.Thr241Ala)
 COSMIC COSMIC COSMIC
18g.55261498T>GCA402535152TCF4c.958A>C (p.Thr320Pro)
c.478A>C (p.Thr160Pro)
n.638A>C
c.886A>C (p.Thr296Pro)
c.*666A>C (n.*666A>C)
c.568A>C (p.Thr190Pro)
c.*848A>C (n.*848A>C)
c.310A>C (p.Thr104Pro)
n.1025A>C
n.652A>C
c.556A>C
c.988A>C (p.Thr330Pro)
c.*569A>C (n.*569A>C)
c.1264A>C (p.Thr422Pro)
c.832A>C (p.Thr278Pro)
c.745A>C (p.Thr249Pro)
n.1049A>C
n.550A>C
c.976A>C (p.Thr326Pro)
c.706A>C (p.Thr236Pro)
c.778A>C (p.Thr260Pro)
c.952A>C (p.Thr318Pro)
c.883A>C (p.Thr295Pro)
c.222A>C
n.559A>C
n.55A>C
c.*101A>C (n.*101A>C)
c.955A>C (p.Thr319Pro)
c.748A>C (p.Thr250Pro)
c.1261A>C (p.Thr421Pro)
c.721A>C (p.Thr241Pro)
18g.55261499C>ACA402535153TCF4c.957G>T (p.Gln319His)
c.477G>T (p.Gln159His)
n.637G>T
c.885G>T (p.Gln295His)
c.*665G>T (n.*665G>T)
c.567G>T (p.Gln189His)
c.*847G>T (n.*847G>T)
c.309G>T (p.Gln103His)
n.1024G>T
n.651G>T
c.555G>T
c.987G>T (p.Gln329His)
c.*568G>T (n.*568G>T)
c.1263G>T (p.Gln421His)
c.831G>T (p.Gln277His)
c.744G>T (p.Gln248His)
n.1048G>T
n.549G>T
c.975G>T (p.Gln325His)
c.705G>T (p.Gln235His)
c.777G>T (p.Gln259His)
c.951G>T (p.Gln317His)
c.882G>T (p.Gln294His)
c.221G>T
n.558G>T
n.54G>T
c.*100G>T (n.*100G>T)
c.954G>T (p.Gln318His)
c.747G>T (p.Gln249His)
c.1260G>T (p.Gln420His)
c.720G>T (p.Gln240His)
18g.55261499C=CA2305019168TCF4c.957G= (p.Gln319=)
c.477G= (p.Gln159=)
n.637G=
c.885G= (p.Gln295=)
c.*665G= (n.*665G=)
c.567G= (p.Gln189=)
c.*847G= (n.*847G=)
c.309G= (p.Gln103=)
n.1024G=
n.651G=
c.555G=
c.987G= (p.Gln329=)
c.*568G= (n.*568G=)
c.1263G= (p.Gln421=)
c.831G= (p.Gln277=)
c.744G= (p.Gln248=)
n.1048G=
n.549G=
c.975G= (p.Gln325=)
c.705G= (p.Gln235=)
c.777G= (p.Gln259=)
c.951G= (p.Gln317=)
c.882G= (p.Gln294=)
c.221G=
n.558G=
n.54G=
c.*100G= (n.*100G=)
c.954G= (p.Gln318=)
c.747G= (p.Gln249=)
c.1260G= (p.Gln420=)
c.720G= (p.Gln240=)
18g.55261499C>GCA402535155TCF4c.957G>C (p.Gln319His)
c.477G>C (p.Gln159His)
n.637G>C
c.885G>C (p.Gln295His)
c.*665G>C (n.*665G>C)
c.567G>C (p.Gln189His)
c.*847G>C (n.*847G>C)
c.309G>C (p.Gln103His)
n.1024G>C
n.651G>C
c.555G>C
c.987G>C (p.Gln329His)
c.*568G>C (n.*568G>C)
c.1263G>C (p.Gln421His)
c.831G>C (p.Gln277His)
c.744G>C (p.Gln248His)
n.1048G>C
n.549G>C
c.975G>C (p.Gln325His)
c.705G>C (p.Gln235His)
c.777G>C (p.Gln259His)
c.951G>C (p.Gln317His)
c.882G>C (p.Gln294His)
c.221G>C
n.558G>C
n.54G>C
c.*100G>C (n.*100G>C)
c.954G>C (p.Gln318His)
c.747G>C (p.Gln249His)
c.1260G>C (p.Gln420His)
c.720G>C (p.Gln240His)
18g.55261499C>TCA504008174TCF4c.957G>A (p.Gln319=)
c.477G>A (p.Gln159=)
n.637G>A
c.885G>A (p.Gln295=)
c.*665G>A (n.*665G>A)
c.567G>A (p.Gln189=)
c.*847G>A (n.*847G>A)
c.309G>A (p.Gln103=)
n.1024G>A
n.651G>A
c.555G>A
c.987G>A (p.Gln329=)
c.*568G>A (n.*568G>A)
c.1263G>A (p.Gln421=)
c.831G>A (p.Gln277=)
c.744G>A (p.Gln248=)
n.1048G>A
n.549G>A
c.975G>A (p.Gln325=)
c.705G>A (p.Gln235=)
c.777G>A (p.Gln259=)
c.951G>A (p.Gln317=)
c.882G>A (p.Gln294=)
c.221G>A
n.558G>A
n.54G>A
c.*100G>A (n.*100G>A)
c.954G>A (p.Gln318=)
c.747G>A (p.Gln249=)
c.1260G>A (p.Gln420=)
c.720G>A (p.Gln240=)
 dbSNP gnomAD v3 gnomAD v4
18g.55261500T>ACA402535158TCF4c.956A>T (p.Gln319Leu)
c.476A>T (p.Gln159Leu)
n.636A>T
c.884A>T (p.Gln295Leu)
c.*664A>T (n.*664A>T)
c.566A>T (p.Gln189Leu)
c.*846A>T (n.*846A>T)
c.308A>T (p.Gln103Leu)
n.1023A>T
n.650A>T
c.554A>T
c.986A>T (p.Gln329Leu)
c.*567A>T (n.*567A>T)
c.1262A>T (p.Gln421Leu)
c.830A>T (p.Gln277Leu)
c.743A>T (p.Gln248Leu)
n.1047A>T
n.548A>T
c.974A>T (p.Gln325Leu)
c.704A>T (p.Gln235Leu)
c.776A>T (p.Gln259Leu)
c.950A>T (p.Gln317Leu)
c.881A>T (p.Gln294Leu)
c.220A>T
n.557A>T
n.53A>T
c.*99A>T (n.*99A>T)
c.953A>T (p.Gln318Leu)
c.746A>T (p.Gln249Leu)
c.1259A>T (p.Gln420Leu)
c.719A>T (p.Gln240Leu)
18g.55261500T>CCA402535161TCF4c.956A>G (p.Gln319Arg)
c.476A>G (p.Gln159Arg)
n.636A>G
c.884A>G (p.Gln295Arg)
c.*664A>G (n.*664A>G)
c.566A>G (p.Gln189Arg)
c.*846A>G (n.*846A>G)
c.308A>G (p.Gln103Arg)
n.1023A>G
n.650A>G
c.554A>G
c.986A>G (p.Gln329Arg)
c.*567A>G (n.*567A>G)
c.1262A>G (p.Gln421Arg)
c.830A>G (p.Gln277Arg)
c.743A>G (p.Gln248Arg)
n.1047A>G
n.548A>G
c.974A>G (p.Gln325Arg)
c.704A>G (p.Gln235Arg)
c.776A>G (p.Gln259Arg)
c.950A>G (p.Gln317Arg)
c.881A>G (p.Gln294Arg)
c.220A>G
n.557A>G
n.53A>G
c.*99A>G (n.*99A>G)
c.953A>G (p.Gln318Arg)
c.746A>G (p.Gln249Arg)
c.1259A>G (p.Gln420Arg)
c.719A>G (p.Gln240Arg)
 dbSNP
18g.55261500T>GCA402535159TCF4c.956A>C (p.Gln319Pro)
c.476A>C (p.Gln159Pro)
n.636A>C
c.884A>C (p.Gln295Pro)
c.*664A>C (n.*664A>C)
c.566A>C (p.Gln189Pro)
c.*846A>C (n.*846A>C)
c.308A>C (p.Gln103Pro)
n.1023A>C
n.650A>C
c.554A>C
c.986A>C (p.Gln329Pro)
c.*567A>C (n.*567A>C)
c.1262A>C (p.Gln421Pro)
c.830A>C (p.Gln277Pro)
c.743A>C (p.Gln248Pro)
n.1047A>C
n.548A>C
c.974A>C (p.Gln325Pro)
c.704A>C (p.Gln235Pro)
c.776A>C (p.Gln259Pro)
c.950A>C (p.Gln317Pro)
c.881A>C (p.Gln294Pro)
c.220A>C
n.557A>C
n.53A>C
c.*99A>C (n.*99A>C)
c.953A>C (p.Gln318Pro)
c.746A>C (p.Gln249Pro)
c.1259A>C (p.Gln420Pro)
c.719A>C (p.Gln240Pro)
 gnomAD v4
18g.55261500T=CA2305019169TCF4c.956A= (p.Gln319=)
c.476A= (p.Gln159=)
n.636A=
c.884A= (p.Gln295=)
c.*664A= (n.*664A=)
c.566A= (p.Gln189=)
c.*846A= (n.*846A=)
c.308A= (p.Gln103=)
n.1023A=
n.650A=
c.554A=
c.986A= (p.Gln329=)
c.*567A= (n.*567A=)
c.1262A= (p.Gln421=)
c.830A= (p.Gln277=)
c.743A= (p.Gln248=)
n.1047A=
n.548A=
c.974A= (p.Gln325=)
c.704A= (p.Gln235=)
c.776A= (p.Gln259=)
c.950A= (p.Gln317=)
c.881A= (p.Gln294=)
c.220A=
n.557A=
n.53A=
c.*99A= (n.*99A=)
c.953A= (p.Gln318=)
c.746A= (p.Gln249=)
c.1259A= (p.Gln420=)
c.719A= (p.Gln240=)
18g.55261501G>ACA402535163TCF4c.955C>T (p.Gln319Ter)
c.475C>T (p.Gln159Ter)
n.635C>T
c.883C>T (p.Gln295Ter)
c.*663C>T (n.*663C>T)
c.565C>T (p.Gln189Ter)
c.*845C>T (n.*845C>T)
c.307C>T (p.Gln103Ter)
n.1022C>T
n.649C>T
c.553C>T
c.985C>T (p.Gln329Ter)
c.*566C>T (n.*566C>T)
c.1261C>T (p.Gln421Ter)
c.829C>T (p.Gln277Ter)
c.742C>T (p.Gln248Ter)
n.1046C>T
n.547C>T
c.973C>T (p.Gln325Ter)
c.703C>T (p.Gln235Ter)
c.775C>T (p.Gln259Ter)
c.949C>T (p.Gln317Ter)
c.880C>T (p.Gln294Ter)
c.219C>T
n.556C>T
n.52C>T
c.*98C>T (n.*98C>T)
c.952C>T (p.Gln318Ter)
c.745C>T (p.Gln249Ter)
c.1258C>T (p.Gln420Ter)
c.718C>T (p.Gln240Ter)
18g.55261501G>CCA402535165TCF4c.955C>G (p.Gln319Glu)
c.475C>G (p.Gln159Glu)
n.635C>G
c.883C>G (p.Gln295Glu)
c.*663C>G (n.*663C>G)
c.565C>G (p.Gln189Glu)
c.*845C>G (n.*845C>G)
c.307C>G (p.Gln103Glu)
n.1022C>G
n.649C>G
c.553C>G
c.985C>G (p.Gln329Glu)
c.*566C>G (n.*566C>G)
c.1261C>G (p.Gln421Glu)
c.829C>G (p.Gln277Glu)
c.742C>G (p.Gln248Glu)
n.1046C>G
n.547C>G
c.973C>G (p.Gln325Glu)
c.703C>G (p.Gln235Glu)
c.775C>G (p.Gln259Glu)
c.949C>G (p.Gln317Glu)
c.880C>G (p.Gln294Glu)
c.219C>G
n.556C>G
n.52C>G
c.*98C>G (n.*98C>G)
c.952C>G (p.Gln318Glu)
c.745C>G (p.Gln249Glu)
c.1258C>G (p.Gln420Glu)
c.718C>G (p.Gln240Glu)
18g.55261501G>TCA402535167TCF4c.955C>A (p.Gln319Lys)
c.475C>A (p.Gln159Lys)
n.635C>A
c.883C>A (p.Gln295Lys)
c.*663C>A (n.*663C>A)
c.565C>A (p.Gln189Lys)
c.*845C>A (n.*845C>A)
c.307C>A (p.Gln103Lys)
n.1022C>A
n.649C>A
c.553C>A
c.985C>A (p.Gln329Lys)
c.*566C>A (n.*566C>A)
c.1261C>A (p.Gln421Lys)
c.829C>A (p.Gln277Lys)
c.742C>A (p.Gln248Lys)
n.1046C>A
n.547C>A
c.973C>A (p.Gln325Lys)
c.703C>A (p.Gln235Lys)
c.775C>A (p.Gln259Lys)
c.949C>A (p.Gln317Lys)
c.880C>A (p.Gln294Lys)
c.219C>A
n.556C>A
n.52C>A
c.*98C>A (n.*98C>A)
c.952C>A (p.Gln318Lys)
c.745C>A (p.Gln249Lys)
c.1258C>A (p.Gln420Lys)
c.718C>A (p.Gln240Lys)
 ClinVar dbSNP gnomAD v4
18g.55261502G>ACA504008175TCF4c.954C>T (p.Ser318=)
c.474C>T (p.Ser158=)
n.634C>T
c.882C>T (p.Ser294=)
c.*662C>T (n.*662C>T)
c.564C>T (p.Ser188=)
c.*844C>T (n.*844C>T)
c.306C>T (p.Ser102=)
n.1021C>T
n.648C>T
c.552C>T
c.984C>T (p.Ser328=)
c.*565C>T (n.*565C>T)
c.1260C>T (p.Ser420=)
c.828C>T (p.Ser276=)
c.741C>T (p.Ser247=)
n.1045C>T
n.546C>T
c.972C>T (p.Ser324=)
c.702C>T (p.Ser234=)
c.774C>T (p.Ser258=)
c.948C>T (p.Ser316=)
c.879C>T (p.Ser293=)
c.218C>T
n.555C>T
n.51C>T
c.*97C>T (n.*97C>T)
c.951C>T (p.Ser317=)
c.744C>T (p.Ser248=)
c.1257C>T (p.Ser419=)
c.717C>T (p.Ser239=)
18g.55261502G>CCA504008177TCF4c.954C>G (p.Ser318=)
c.474C>G (p.Ser158=)
n.634C>G
c.882C>G (p.Ser294=)
c.*662C>G (n.*662C>G)
c.564C>G (p.Ser188=)
c.*844C>G (n.*844C>G)
c.306C>G (p.Ser102=)
n.1021C>G
n.648C>G
c.552C>G
c.984C>G (p.Ser328=)
c.*565C>G (n.*565C>G)
c.1260C>G (p.Ser420=)
c.828C>G (p.Ser276=)
c.741C>G (p.Ser247=)
n.1045C>G
n.546C>G
c.972C>G (p.Ser324=)
c.702C>G (p.Ser234=)
c.774C>G (p.Ser258=)
c.948C>G (p.Ser316=)
c.879C>G (p.Ser293=)
c.218C>G
n.555C>G
n.51C>G
c.*97C>G (n.*97C>G)
c.951C>G (p.Ser317=)
c.744C>G (p.Ser248=)
c.1257C>G (p.Ser419=)
c.717C>G (p.Ser239=)
18g.55261502G>TCA504008176TCF4c.954C>A (p.Ser318=)
c.474C>A (p.Ser158=)
n.634C>A
c.882C>A (p.Ser294=)
c.*662C>A (n.*662C>A)
c.564C>A (p.Ser188=)
c.*844C>A (n.*844C>A)
c.306C>A (p.Ser102=)
n.1021C>A
n.648C>A
c.552C>A
c.984C>A (p.Ser328=)
c.*565C>A (n.*565C>A)
c.1260C>A (p.Ser420=)
c.828C>A (p.Ser276=)
c.741C>A (p.Ser247=)
n.1045C>A
n.546C>A
c.972C>A (p.Ser324=)
c.702C>A (p.Ser234=)
c.774C>A (p.Ser258=)
c.948C>A (p.Ser316=)
c.879C>A (p.Ser293=)
c.218C>A
n.555C>A
n.51C>A
c.*97C>A (n.*97C>A)
c.951C>A (p.Ser317=)
c.744C>A (p.Ser248=)
c.1257C>A (p.Ser419=)
c.717C>A (p.Ser239=)

Number of alleles fetched