| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.136209946G>A | CA414609787 | FHL1 | c.812G>A (p.Cys271Tyr) c.964G>A (p.Ala322Thr) c.764G>A (p.Cys255Tyr) c.*93G>A (n.*93G>A) c.625G>A (p.Ala209Thr) c.851G>A (p.Cys284Tyr) c.577G>A (p.Ala193Thr) n.351G>A n.1175G>A c.1012G>A (p.Ala338Thr) | ClinVar dbSNP |
| X | g.136209946G>C | CA351843 | FHL1 | c.812G>C (p.Cys271Ser) c.964G>C (p.Ala322Pro) c.764G>C (p.Cys255Ser) c.*93G>C (n.*93G>C) c.625G>C (p.Ala209Pro) c.851G>C (p.Cys284Ser) c.577G>C (p.Ala193Pro) n.351G>C n.1175G>C c.1012G>C (p.Ala338Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.136209946G= | CA2460260283 | FHL1 | c.812G= (p.Cys271=) c.964G= (p.Ala322=) c.764G= (p.Cys255=) c.*93G= (n.*93G=) c.625G= (p.Ala209=) c.851G= (p.Cys284=) c.577G= (p.Ala193=) n.351G= n.1175G= c.1012G= (p.Ala338=) | |
| X | g.136209946G>T | CA414609788 | FHL1 | c.812G>T (p.Cys271Phe) c.964G>T (p.Ala322Ser) c.764G>T (p.Cys255Phe) c.*93G>T (n.*93G>T) c.625G>T (p.Ala209Ser) c.851G>T (p.Cys284Phe) c.577G>T (p.Ala193Ser) n.351G>T n.1175G>T c.1012G>T (p.Ala338Ser) | |
| X | g.136209946dup | CA2580101597 | FHL1 | c.812dup (p.Cys271TrpfsTer29) c.964dup (p.Ala322GlyfsTer27) c.764dup (p.Cys255TrpfsTer29) c.*93dup (n.*93dup) c.764dup (p.Cys255TrpfsTer?) c.625dup (p.Ala209GlyfsTer27) c.851dup (p.Cys284TrpfsTer29) c.577dup (p.Ala193GlyfsTer27) n.351dup n.1175dup c.1012dup (p.Ala338GlyfsTer27) | ClinVar |
| X | g.136209947C>A | CA414609789 | FHL1 | c.813C>A (p.Cys271Ter) c.965C>A (p.Ala322Asp) c.765C>A (p.Cys255Ter) c.*94C>A (n.*94C>A) c.626C>A (p.Ala209Asp) c.852C>A (p.Cys284Ter) c.578C>A (p.Ala193Asp) n.352C>A n.1176C>A c.1013C>A (p.Ala338Asp) | |
| X | g.136209947C= | CA2460260284 | FHL1 | c.813C= (p.Cys271=) c.965C= (p.Ala322=) c.765C= (p.Cys255=) c.*94C= (n.*94C=) c.626C= (p.Ala209=) c.852C= (p.Cys284=) c.578C= (p.Ala193=) n.352C= n.1176C= c.1013C= (p.Ala338=) | |
| X | g.136209947C>G | CA352044 | FHL1 | c.813C>G (p.Cys271Trp) c.965C>G (p.Ala322Gly) c.765C>G (p.Cys255Trp) c.*94C>G (n.*94C>G) c.626C>G (p.Ala209Gly) c.852C>G (p.Cys284Trp) c.578C>G (p.Ala193Gly) n.352C>G n.1176C>G c.1013C>G (p.Ala338Gly) | ClinVar dbSNP |
| X | g.136209947C>T | CA414609790 | FHL1 | c.813C>T (p.Cys271=) c.965C>T (p.Ala322Val) c.765C>T (p.Cys255=) c.*94C>T (n.*94C>T) c.626C>T (p.Ala209Val) c.852C>T (p.Cys284=) c.578C>T (p.Ala193Val) n.352C>T n.1176C>T c.1013C>T (p.Ala338Val) | COSMIC COSMIC COSMIC |
| X | g.136209948_136209949del | CA2695237518 | FHL1 | c.814_815del (p.Ser272ArgfsTer27) c.966_967del (p.Pro323ValfsTer25) c.766_767del (p.Ser256ArgfsTer27) c.*95_*96del (n.*95_*96del) c.766_767del (p.Ser256ArgfsTer?) c.627_628del (p.Pro210ValfsTer25) c.853_854del (p.Ser285ArgfsTer27) c.579_580del (p.Pro194ValfsTer25) n.353_354del n.1177_1178del c.1014_1015del (p.Pro339ValfsTer25) | |
| X | g.136209948T>A | CA414609791 | FHL1 | c.814T>A (p.Ser272Thr) c.966T>A (p.Ala322=) c.766T>A (p.Ser256Thr) c.*95T>A (n.*95T>A) c.627T>A (p.Ala209=) c.853T>A (p.Ser285Thr) c.579T>A (p.Ala193=) n.353T>A n.1177T>A c.1014T>A (p.Ala338=) | ClinVar dbSNP |
| X | g.136209948T>C | CA414609793 | FHL1 | c.814T>C (p.Ser272Pro) c.966T>C (p.Ala322=) c.766T>C (p.Ser256Pro) c.*95T>C (n.*95T>C) c.627T>C (p.Ala209=) c.853T>C (p.Ser285Pro) c.579T>C (p.Ala193=) n.353T>C n.1177T>C c.1014T>C (p.Ala338=) | dbSNP gnomAD v4 |
| X | g.136209948T>G | CA414609792 | FHL1 | c.814T>G (p.Ser272Ala) c.966T>G (p.Ala322=) c.766T>G (p.Ser256Ala) c.*95T>G (n.*95T>G) c.627T>G (p.Ala209=) c.853T>G (p.Ser285Ala) c.579T>G (p.Ala193=) n.353T>G n.1177T>G c.1014T>G (p.Ala338=) | |
| X | g.136209948T= | CA2460260285 | FHL1 | c.814T= (p.Ser272=) c.966T= (p.Ala322=) c.766T= (p.Ser256=) c.*95T= (n.*95T=) c.627T= (p.Ala209=) c.853T= (p.Ser285=) c.579T= (p.Ala193=) n.353T= n.1177T= c.1014T= (p.Ala338=) | |
| X | g.136209949C>A | CA414609794 | FHL1 | c.815C>A (p.Ser272Tyr) c.967C>A (p.Pro323Thr) c.767C>A (p.Ser256Tyr) c.*96C>A (n.*96C>A) c.628C>A (p.Pro210Thr) c.854C>A (p.Ser285Tyr) c.580C>A (p.Pro194Thr) n.354C>A n.1178C>A c.1015C>A (p.Pro339Thr) | |
| X | g.136209949C>G | CA414609795 | FHL1 | c.815C>G (p.Ser272Cys) c.967C>G (p.Pro323Ala) c.767C>G (p.Ser256Cys) c.*96C>G (n.*96C>G) c.628C>G (p.Pro210Ala) c.854C>G (p.Ser285Cys) c.580C>G (p.Pro194Ala) n.354C>G n.1178C>G c.1015C>G (p.Pro339Ala) | |
| X | g.136209949C>T | CA414609796 | FHL1 | c.815C>T (p.Ser272Phe) c.967C>T (p.Pro323Ser) c.767C>T (p.Ser256Phe) c.*96C>T (n.*96C>T) c.628C>T (p.Pro210Ser) c.854C>T (p.Ser285Phe) c.580C>T (p.Pro194Ser) n.354C>T n.1178C>T c.1015C>T (p.Pro339Ser) | |
| X | g.136209950C>A | CA414609797 | FHL1 | c.816C>A (p.Ser272=) c.968C>A (p.Pro323Gln) c.768C>A (p.Ser256=) c.*97C>A (n.*97C>A) c.629C>A (p.Pro210Gln) c.855C>A (p.Ser285=) c.581C>A (p.Pro194Gln) n.355C>A n.1179C>A c.1016C>A (p.Pro339Gln) | ClinVar dbSNP |
| X | g.136209950C= | CA2460260286 | FHL1 | c.816C= (p.Ser272=) c.968C= (p.Pro323=) c.768C= (p.Ser256=) c.*97C= (n.*97C=) c.629C= (p.Pro210=) c.855C= (p.Ser285=) c.581C= (p.Pro194=) n.355C= n.1179C= c.1016C= (p.Pro339=) | |
| X | g.136209950C>G | CA10525126 | FHL1 | c.816C>G (p.Ser272=) c.968C>G (p.Pro323Arg) c.768C>G (p.Ser256=) c.*97C>G (n.*97C>G) c.629C>G (p.Pro210Arg) c.855C>G (p.Ser285=) c.581C>G (p.Pro194Arg) n.355C>G n.1179C>G c.1016C>G (p.Pro339Arg) | dbSNP ExAC gnomAD v2 |
| X | g.136209950C>T | CA10525127 | FHL1 | c.816C>T (p.Ser272=) c.968C>T (p.Pro323Leu) c.768C>T (p.Ser256=) c.*97C>T (n.*97C>T) c.629C>T (p.Pro210Leu) c.855C>T (p.Ser285=) c.581C>T (p.Pro194Leu) n.355C>T n.1179C>T c.1016C>T (p.Pro339Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.136209951G>A | CA10525129 | FHL1 | c.817G>A (p.Val273Met) c.969G>A (p.Pro323=) c.769G>A (p.Val257Met) c.*98G>A (n.*98G>A) c.630G>A (p.Pro210=) c.856G>A (p.Val286Met) c.582G>A (p.Pro194=) n.356G>A n.1180G>A c.1017G>A (p.Pro339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.136209951G>C | CA10525128 | FHL1 | c.817G>C (p.Val273Leu) c.969G>C (p.Pro323=) c.769G>C (p.Val257Leu) c.*98G>C (n.*98G>C) c.630G>C (p.Pro210=) c.856G>C (p.Val286Leu) c.582G>C (p.Pro194=) n.356G>C n.1180G>C c.1017G>C (p.Pro339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.136209951G= | CA2460260287 | FHL1 | c.817G= (p.Val273=) c.969G= (p.Pro323=) c.769G= (p.Val257=) c.*98G= (n.*98G=) c.630G= (p.Pro210=) c.856G= (p.Val286=) c.582G= (p.Pro194=) n.356G= n.1180G= c.1017G= (p.Pro339=) | |
| X | g.136209951G>T | CA414609798 | FHL1 | c.817G>T (p.Val273Leu) c.969G>T (p.Pro323=) c.769G>T (p.Val257Leu) c.*98G>T (n.*98G>T) c.630G>T (p.Pro210=) c.856G>T (p.Val286Leu) c.582G>T (p.Pro194=) n.356G>T n.1180G>T c.1017G>T (p.Pro339=) | |
| X | g.136209952T>A | CA414609799 | FHL1 | c.818T>A (p.Val273Glu) c.970T>A (p.Ter324Arg) c.770T>A (p.Val257Glu) c.*99T>A (n.*99T>A) c.631T>A (p.Ter211Arg) c.857T>A (p.Val286Glu) c.583T>A (p.Ter195Arg) n.357T>A n.1181T>A c.1018T>A (p.Ter340Arg) | |
| X | g.136209952T>C | CA414609800 | FHL1 | c.818T>C (p.Val273Ala) c.970T>C (p.Ter324Arg) c.770T>C (p.Val257Ala) c.*99T>C (n.*99T>C) c.631T>C (p.Ter211Arg) c.857T>C (p.Val286Ala) c.583T>C (p.Ter195Arg) n.357T>C n.1181T>C c.1018T>C (p.Ter340Arg) | |
| X | g.136209952T>G | CA414609801 | FHL1 | c.818T>G (p.Val273Gly) c.970T>G (p.Ter324Gly) c.770T>G (p.Val257Gly) c.*99T>G (n.*99T>G) c.631T>G (p.Ter211Gly) c.857T>G (p.Val286Gly) c.583T>G (p.Ter195Gly) n.357T>G n.1181T>G c.1018T>G (p.Ter340Gly) | |
| X | g.136209953G>A | CA518490151 | FHL1 | c.819G>A (p.Val273=) c.971G>A (p.Ter324=) c.771G>A (p.Val257=) c.*100G>A (n.*100G>A) c.632G>A (p.Ter211=) c.858G>A (p.Val286=) c.584G>A (p.Ter195=) n.358G>A n.1182G>A c.1019G>A (p.Ter340=) | |
| X | g.136209953G>C | CA414609802 | FHL1 | c.819G>C (p.Val273=) c.971G>C (p.Ter324Ser) c.771G>C (p.Val257=) c.*100G>C (n.*100G>C) c.632G>C (p.Ter211Ser) c.858G>C (p.Val286=) c.584G>C (p.Ter195Ser) n.358G>C n.1182G>C c.1019G>C (p.Ter340Ser) | ClinVar dbSNP |
| X | g.136209953G>T | CA414609803 | FHL1 | c.819G>T (p.Val273=) c.971G>T (p.Ter324Leu) c.771G>T (p.Val257=) c.*100G>T (n.*100G>T) c.632G>T (p.Ter211Leu) c.858G>T (p.Val286=) c.584G>T (p.Ter195Leu) n.358G>T n.1182G>T c.1019G>T (p.Ter340Leu) | |
| X | g.136209954A>C | CA414609804 | FHL1 | c.820A>C (p.Asn274His) c.972A>C (p.Ter324Cys) c.772A>C (p.Asn258His) c.*101A>C (n.*101A>C) c.772A>C c.633A>C (p.Ter211Cys) c.859A>C (p.Asn287His) c.585A>C (p.Ter195Cys) n.359A>C n.1183A>C c.1020A>C (p.Ter340Cys) | |
| X | g.136209954A>G | CA414609805 | FHL1 | c.820A>G (p.Asn274Asp) c.972A>G (p.Ter324Trp) c.772A>G (p.Asn258Asp) c.*101A>G (n.*101A>G) c.772A>G c.633A>G (p.Ter211Trp) c.859A>G (p.Asn287Asp) c.585A>G (p.Ter195Trp) n.359A>G n.1183A>G c.1020A>G (p.Ter340Trp) | gnomAD v4 |
| X | g.136209954A>T | CA414609806 | FHL1 | c.820A>T (p.Asn274Tyr) c.972A>T (p.Ter324Cys) c.772A>T (p.Asn258Tyr) c.*101A>T (n.*101A>T) c.772A>T c.633A>T (p.Ter211Cys) c.859A>T (p.Asn287Tyr) c.585A>T (p.Ter195Cys) n.359A>T n.1183A>T c.1020A>T (p.Ter340Cys) | |
| X | g.136209955A>C | CA414609807 | FHL1 | c.821A>C (p.Asn274Thr) c.*1A>C (n.*1A>C) c.773A>C (p.Asn258Thr) c.*102A>C (n.*102A>C) c.860A>C (p.Asn287Thr) n.360A>C n.1184A>C | |
| X | g.136209955A>G | CA414609808 | FHL1 | c.821A>G (p.Asn274Ser) c.*1A>G (n.*1A>G) c.773A>G (p.Asn258Ser) c.*102A>G (n.*102A>G) c.860A>G (p.Asn287Ser) n.360A>G n.1184A>G | |
| X | g.136209955A>T | CA414609809 | FHL1 | c.821A>T (p.Asn274Ile) c.*1A>T (n.*1A>T) c.773A>T (p.Asn258Ile) c.*102A>T (n.*102A>T) c.860A>T (p.Asn287Ile) n.360A>T n.1184A>T | |
| X | g.136209956T>A | CA414609810 | FHL1 | c.822T>A (p.Asn274Lys) c.*2T>A (n.*2T>A) c.774T>A (p.Asn258Lys) c.*103T>A (n.*103T>A) c.861T>A (p.Asn287Lys) n.361T>A n.1185T>A | |
| X | g.136209956T>G | CA414609811 | FHL1 | c.822T>G (p.Asn274Lys) c.*2T>G (n.*2T>G) c.774T>G (p.Asn258Lys) c.*103T>G (n.*103T>G) c.861T>G (p.Asn287Lys) n.361T>G n.1185T>G | |
| X | g.136209957C>A | CA414609812 | FHL1 | c.823C>A (p.Leu275Met) c.*3C>A (n.*3C>A) c.775C>A (p.Leu259Met) c.*104C>A (n.*104C>A) c.862C>A (p.Leu288Met) n.362C>A n.1186C>A | |
| X | g.136209957C>G | CA414609813 | FHL1 | c.823C>G (p.Leu275Val) c.*3C>G (n.*3C>G) c.775C>G (p.Leu259Val) c.*104C>G (n.*104C>G) c.862C>G (p.Leu288Val) n.362C>G n.1186C>G | ClinVar dbSNP gnomAD v4 |
| X | g.136209957C>T | CA2580101598 | FHL1 | c.823C>T (p.Leu275=) c.*3C>T (n.*3C>T) c.775C>T (p.Leu259=) c.*104C>T (n.*104C>T) c.862C>T (p.Leu288=) n.362C>T n.1186C>T | ClinVar |
| X | g.136209958T>A | CA414609816 | FHL1 | c.824T>A (p.Leu275Gln) c.*4T>A (n.*4T>A) c.776T>A (p.Leu259Gln) c.*105T>A (n.*105T>A) c.863T>A (p.Leu288Gln) n.363T>A n.1187T>A | |
| X | g.136209958T>C | CA414609815 | FHL1 | c.824T>C (p.Leu275Pro) c.*4T>C (n.*4T>C) c.776T>C (p.Leu259Pro) c.*105T>C (n.*105T>C) c.863T>C (p.Leu288Pro) n.363T>C n.1187T>C | |
| X | g.136209958T>G | CA414609814 | FHL1 | c.824T>G (p.Leu275Arg) c.*4T>G (n.*4T>G) c.776T>G (p.Leu259Arg) c.*105T>G (n.*105T>G) c.863T>G (p.Leu288Arg) n.363T>G n.1187T>G | |
| X | g.136209959G>C | CA2697544845 | FHL1 | c.825G>C (p.Leu275=) c.*5G>C (n.*5G>C) c.777G>C (p.Leu259=) c.*106G>C (n.*106G>C) c.864G>C (p.Leu288=) n.364G>C n.1188G>C | ClinVar |
| X | g.136209960G>A | CA10525130 | FHL1 | c.826G>A (p.Ala276Thr) c.*6G>A (n.*6G>A) c.778G>A (p.Ala260Thr) c.*107G>A (n.*107G>A) c.865G>A (p.Ala289Thr) n.365G>A n.1189G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.136209960G>C | CA414609817 | FHL1 | c.826G>C (p.Ala276Pro) c.*6G>C (n.*6G>C) c.778G>C (p.Ala260Pro) c.*107G>C (n.*107G>C) c.865G>C (p.Ala289Pro) n.365G>C n.1189G>C | |
| X | g.136209960G= | CA2460260288 | FHL1 | c.826G= (p.Ala276=) c.*6G= (n.*6G=) c.778G= (p.Ala260=) c.*107G= (n.*107G=) c.865G= (p.Ala289=) n.365G= n.1189G= | |
| X | g.136209960G>T | CA414609818 | FHL1 | c.826G>T (p.Ala276Ser) c.*6G>T (n.*6G>T) c.778G>T (p.Ala260Ser) c.*107G>T (n.*107G>T) c.865G>T (p.Ala289Ser) n.365G>T n.1189G>T |