Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6867525_6867526delinsCT | CA2014288084 | TPI1 | c.70_71delinsCT (p.Leu24=) n.692_693delinsCT | |
12 | g.6867526del | CA2014288085 | TPI1 | c.71del (p.Leu24ArgfsTer29) n.693del | dbSNP |
12 | g.6867526T>A | CA383708192 | TPI1 | c.71T>A (p.Leu24Gln) n.693T>A | |
12 | g.6867526T>C | CA383708193 | TPI1 | c.71T>C (p.Leu24Pro) n.693T>C | |
12 | g.6867526T>G | CA383708194 | TPI1 | c.71T>G (p.Leu24Arg) n.693T>G | |
12 | g.6867527G>A | CA478163786 | TPI1 | c.72G>A (p.Leu24=) n.694G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867527G>C | CA478163788 | TPI1 | c.72G>C (p.Leu24=) n.694G>C | |
12 | g.6867527G= | CA2014288086 | TPI1 | c.72G= (p.Leu24=) n.694G= | |
12 | g.6867527G>T | CA478163787 | TPI1 | c.72G>T (p.Leu24=) n.694G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867528C>A | CA383708195 | TPI1 | c.73C>A (p.Arg25Ser) n.695C>A | gnomAD v4 |
12 | g.6867528C= | CA2014288087 | TPI1 | c.73C= (p.Arg25=) n.695C= | |
12 | g.6867528C>G | CA383708196 | TPI1 | c.73C>G (p.Arg25Gly) n.695C>G | dbSNP |
12 | g.6867528C>T | CA6418756 | TPI1 | c.73C>T (p.Arg25Cys) n.695C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867529G>A | CA6418757 | TPI1 | c.74G>A (p.Arg25His) c.-38G>A (n.-38G>A) n.696G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867529G>C | CA383708199 | TPI1 | c.74G>C (p.Arg25Pro) c.-38G>C (n.-38G>C) n.696G>C | |
12 | g.6867529G= | CA2014288088 | TPI1 | c.74G= (p.Arg25=) c.-38G= (n.-38G=) n.696G= | |
12 | g.6867529G>T | CA383708209 | TPI1 | c.74G>T (p.Arg25Leu) c.-38G>T (n.-38G>T) n.696G>T | dbSNP gnomAD v4 |
12 | g.6867530C>A | CA478163789 | TPI1 | c.75C>A (p.Arg25=) c.-37C>A (n.-37C>A) n.697C>A | |
12 | g.6867530C= | CA2014288089 | TPI1 | c.75C= (p.Arg25=) c.-37C= (n.-37C=) n.697C= | |
12 | g.6867530C>G | CA478163790 | TPI1 | c.75C>G (p.Arg25=) c.-37C>G (n.-37C>G) n.697C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6867530C>T | CA6418758 | TPI1 | c.75C>T (p.Arg25=) c.-37C>T (n.-37C>T) n.697C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867531G>A | CA383708214 | TPI1 | c.-36G>A (n.-36G>A) c.76G>A (p.Ala26Thr) n.698G>A | gnomAD v4 |
12 | g.6867531G>C | CA383708216 | TPI1 | c.-36G>C (n.-36G>C) c.76G>C (p.Ala26Pro) n.698G>C | gnomAD v4 |
12 | g.6867531G>T | CA383708217 | TPI1 | c.-36G>T (n.-36G>T) c.76G>T (p.Ala26Ser) n.698G>T | |
12 | g.6867531_6867533delinsGCA | CA2014288090 | TPI1 | c.-36_-34delinsGCA (n.-36_-34delinsGCA) c.76_78delinsGCA (p.Ala26=) n.698_700delinsGCA | |
12 | g.6867531_6867535delinsGCAGA | CA2014288091 | TPI1 | c.-36_-32delinsGCAGA (n.-36_-32delinsGCAGA) c.76_80delinsGCAGA (p.Ala26=) n.698_702delinsGCAGA | |
12 | g.6867532C>A | CA383708219 | TPI1 | c.-35C>A (n.-35C>A) c.77C>A (p.Ala26Glu) n.699C>A | |
12 | g.6867532C= | CA2014288092 | TPI1 | c.-35C= (n.-35C=) c.77C= (p.Ala26=) n.699C= | |
12 | g.6867532C>G | CA383708222 | TPI1 | c.-35C>G (n.-35C>G) c.77C>G (p.Ala26Gly) n.699C>G | dbSNP gnomAD v4 |
12 | g.6867532C>T | CA6418760 | TPI1 | c.-35C>T (n.-35C>T) c.77C>T (p.Ala26Val) n.699C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867532_6867533del | CA6418759 | TPI1 | c.-35_-34del (n.-35_-34del) c.77_78del (p.Ala26GlyfsTer3) n.699_700del | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.6867534_6867537del | CA603486521 | TPI1 | c.-33_-30del (n.-33_-30del) c.79_82del (p.Asp27LeufsTer25) n.701_704del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867533A>C | CA478163792 | TPI1 | c.-34A>C (n.-34A>C) c.78A>C (p.Ala26=) n.700A>C | gnomAD v4 |
12 | g.6867533A>G | CA478163793 | TPI1 | c.-34A>G (n.-34A>G) c.78A>G (p.Ala26=) n.700A>G | gnomAD v4 |
12 | g.6867533A>T | CA478163794 | TPI1 | c.-34A>T (n.-34A>T) c.78A>T (p.Ala26=) n.700A>T | gnomAD v4 |
12 | g.6867534G>A | CA6418761 | TPI1 | c.-33G>A (n.-33G>A) c.79G>A (p.Asp27Asn) n.701G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867534G>C | CA383708223 | TPI1 | c.-33G>C (n.-33G>C) c.79G>C (p.Asp27His) n.701G>C | gnomAD v4 |
12 | g.6867534G= | CA2014288093 | TPI1 | c.-33G= (n.-33G=) c.79G= (p.Asp27=) n.701G= | |
12 | g.6867534G>T | CA383708225 | TPI1 | c.-33G>T (n.-33G>T) c.79G>T (p.Asp27Tyr) n.701G>T | |
12 | g.6867535A>C | CA383708228 | TPI1 | c.-32A>C (n.-32A>C) c.80A>C (p.Asp27Ala) n.702A>C | gnomAD v4 |
12 | g.6867535A>G | CA383708230 | TPI1 | c.-32A>G (n.-32A>G) c.80A>G (p.Asp27Gly) n.702A>G | gnomAD v4 COSMIC |
12 | g.6867535A>T | CA383708231 | TPI1 | c.-32A>T (n.-32A>T) c.80A>T (p.Asp27Val) n.702A>T | gnomAD v4 |
12 | g.6867536C>A | CA383708235 | TPI1 | c.-31C>A (n.-31C>A) c.81C>A (p.Asp27Glu) n.703C>A | |
12 | g.6867536C= | CA2014288094 | TPI1 | c.-31C= (n.-31C=) c.81C= (p.Asp27=) n.703C= | |
12 | g.6867536C>G | CA6418763 | TPI1 | c.-31C>G (n.-31C>G) c.81C>G (p.Asp27Glu) n.703C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867536C>T | CA6418762 | TPI1 | c.-31C>T (n.-31C>T) c.81C>T (p.Asp27=) n.703C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867537A= | CA2014288095 | TPI1 | c.-30A= (n.-30A=) c.82A= (p.Thr28=) n.704A= | |
12 | g.6867537A>C | CA383708240 | TPI1 | c.-30A>C (n.-30A>C) c.82A>C (p.Thr28Pro) n.704A>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867537A>G | CA6418764 | TPI1 | c.-30A>G (n.-30A>G) c.82A>G (p.Thr28Ala) n.704A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867537A>T | CA383708243 | TPI1 | c.-30A>T (n.-30A>T) c.82A>T (p.Thr28Ser) n.704A>T | |
12 | g.6867539_6867542del | CA2617357791 | TPI1 | c.-28_-25del (n.-28_-25del) c.84_87del (p.Asp29PhefsTer23) n.706_709del | gnomAD v4 |
12 | g.6867537_6867550delinsACTGACCTTCAGCG | CA2014288096 | TPI1 | c.-30_-17delinsACTGACCTTCAGCG (n.-30_-17delinsACTGACCTTCAGCG) c.82_95delinsACTGACCTTCAGCG (p.Thr28=) n.704_717delinsACTGACCTTCAGCG | |
12 | g.6867538C>A | CA383708244 | TPI1 | c.-29C>A (n.-29C>A) c.83C>A (p.Thr28Asn) n.705C>A | |
12 | g.6867538C= | CA2014288097 | TPI1 | c.-29C= (n.-29C=) c.83C= (p.Thr28=) n.705C= | |
12 | g.6867538C>G | CA6418765 | TPI1 | c.-29C>G (n.-29C>G) c.83C>G (p.Thr28Ser) n.705C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867538C>T | CA6418766 | TPI1 | c.-29C>T (n.-29C>T) c.83C>T (p.Thr28Ile) n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6867539_6867551del | CA603486522 | TPI1 | c.-28_-16del (n.-28_-16del) c.84_96del (p.Asp29SerfsTer20) n.706_718del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867539T>A | CA478163798 | TPI1 | c.-28T>A (n.-28T>A) c.84T>A (p.Thr28=) n.706T>A | |
12 | g.6867539T>C | CA478163797 | TPI1 | c.-28T>C (n.-28T>C) c.84T>C (p.Thr28=) n.706T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6867539T>G | CA478163796 | TPI1 | c.-28T>G (n.-28T>G) c.84T>G (p.Thr28=) n.706T>G | gnomAD v4 |
12 | g.6867539T= | CA2014288098 | TPI1 | c.-28T= (n.-28T=) c.84T= (p.Thr28=) n.706T= | |
12 | g.6867540G>A | CA383708246 | TPI1 | c.-27G>A (n.-27G>A) c.85G>A (p.Asp29Asn) n.707G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867540G>C | CA383708253 | TPI1 | c.-27G>C (n.-27G>C) c.85G>C (p.Asp29His) n.707G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867540G= | CA2014288099 | TPI1 | c.-27G= (n.-27G=) c.85G= (p.Asp29=) n.707G= | |
12 | g.6867540G>T | CA383708256 | TPI1 | c.-27G>T (n.-27G>T) c.85G>T (p.Asp29Tyr) n.707G>T | |
12 | g.6867540_6867548dup | CA2014288100 | TPI1 | c.-27_-19dup (n.-27_-19dup) c.85_93dup (p.Gln31_Arg32insAspLeuGln) n.707_715dup | dbSNP |
12 | g.6867541_6867572dup | CA2617357816 | TPI1 | c.-26_6dup (p.Pro3ThrfsTer24) c.86_117dup (p.Pro40ThrfsTer24) n.708_739dup | gnomAD v4 |
12 | g.6867541A>C | CA383708268 | TPI1 | c.-26A>C (n.-26A>C) c.86A>C (p.Asp29Ala) n.708A>C | gnomAD v4 |
12 | g.6867541A>G | CA383708272 | TPI1 | c.-26A>G (n.-26A>G) c.86A>G (p.Asp29Gly) n.708A>G | gnomAD v4 |
12 | g.6867541A>T | CA383708276 | TPI1 | c.-26A>T (n.-26A>T) c.86A>T (p.Asp29Val) n.708A>T | |
12 | g.6867542C>A | CA383708291 | TPI1 | c.-25C>A (n.-25C>A) c.87C>A (p.Asp29Glu) n.709C>A | |
12 | g.6867542C= | CA2014288101 | TPI1 | c.-25C= (n.-25C=) c.87C= (p.Asp29=) n.709C= | |
12 | g.6867542C>G | CA383708292 | TPI1 | c.-25C>G (n.-25C>G) c.87C>G (p.Asp29Glu) n.709C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867542C>T | CA6418767 | TPI1 | c.-25C>T (n.-25C>T) c.87C>T (p.Asp29=) n.709C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867543C>A | CA383708297 | TPI1 | c.-24C>A (n.-24C>A) c.88C>A (p.Leu30Ile) n.710C>A | dbSNP |
12 | g.6867543C= | CA2014288102 | TPI1 | c.-24C= (n.-24C=) c.88C= (p.Leu30=) n.710C= | |
12 | g.6867543C>G | CA6418769 | TPI1 | c.-24C>G (n.-24C>G) c.88C>G (p.Leu30Val) n.710C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867543C>T | CA6418770 | TPI1 | c.-24C>T (n.-24C>T) c.88C>T (p.Leu30Phe) n.710C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6867545_6867558dup | CA6418768 | TPI1 | c.-22_-9dup (n.-22_-9dup) c.90_103dup (p.Ser35PhefsTer23) n.712_725dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867544T>A | CA383708309 | TPI1 | c.-23T>A (n.-23T>A) c.89T>A (p.Leu30His) n.711T>A | |
12 | g.6867544T>C | CA383708308 | TPI1 | c.-23T>C (n.-23T>C) c.89T>C (p.Leu30Pro) n.711T>C | dbSNP |
12 | g.6867544T>G | CA383708302 | TPI1 | c.-23T>G (n.-23T>G) c.89T>G (p.Leu30Arg) n.711T>G | |
12 | g.6867544T= | CA2014288103 | TPI1 | c.-23T= (n.-23T=) c.89T= (p.Leu30=) n.711T= | |
12 | g.6867545T>A | CA478163803 | TPI1 | c.-22T>A (n.-22T>A) c.90T>A (p.Leu30=) n.712T>A | |
12 | g.6867545T>C | CA478163804 | TPI1 | c.-22T>C (n.-22T>C) c.90T>C (p.Leu30=) n.712T>C | |
12 | g.6867545T>G | CA478163805 | TPI1 | c.-22T>G (n.-22T>G) c.90T>G (p.Leu30=) n.712T>G | |
12 | g.6867545_6867559delinsTCAGCGCCTCGGCTC | CA2014288104 | TPI1 | c.-22_-8delinsTCAGCGCCTCGGCTC (n.-22_-8delinsTCAGCGCCTCGGCTC) c.90_104delinsTCAGCGCCTCGGCTC (p.Leu30=) n.712_726delinsTCAGCGCCTCGGCTC | |
12 | g.6867546C>A | CA383708315 | TPI1 | c.-21C>A (n.-21C>A) c.91C>A (p.Gln31Lys) n.713C>A | |
12 | g.6867546C= | CA2014288105 | TPI1 | c.-21C= (n.-21C=) c.91C= (p.Gln31=) n.713C= | |
12 | g.6867546C>G | CA383708319 | TPI1 | c.-21C>G (n.-21C>G) c.91C>G (p.Gln31Glu) n.713C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867546C>T | CA6418772 | TPI1 | c.-21C>T (n.-21C>T) c.91C>T (p.Gln31Ter) n.713C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6867553_6867566dup | CA6418771 | TPI1 | c.-14_-1dup (p.Met1SerfsTer20) c.98_111dup (p.Met38SerfsTer20) n.720_733dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867553_6867566del | CA603486523 | TPI1 | c.-14_-1del (n.-14_-1del) c.98_111del (p.Leu33HisfsTer?) n.720_733del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867547A>C | CA383708322 | TPI1 | c.-20A>C (n.-20A>C) c.92A>C (p.Gln31Pro) n.714A>C | gnomAD v4 |
12 | g.6867547A>G | CA383708331 | TPI1 | c.-20A>G (n.-20A>G) c.92A>G (p.Gln31Arg) n.714A>G | gnomAD v4 |
12 | g.6867547A>T | CA383708336 | TPI1 | c.-20A>T (n.-20A>T) c.92A>T (p.Gln31Leu) n.714A>T | |
12 | g.6867547_6867555delinsAGCGCCTCG | CA2014288106 | TPI1 | c.-20_-12delinsAGCGCCTCG (n.-20_-12delinsAGCGCCTCG) c.92_100delinsAGCGCCTCG (p.Gln31=) n.714_722delinsAGCGCCTCG | |
12 | g.6867548G>A | CA478163806 | TPI1 | c.-19G>A (n.-19G>A) c.93G>A (p.Gln31=) n.715G>A | |
12 | g.6867548G>C | CA383708347 | TPI1 | c.-19G>C (n.-19G>C) c.93G>C (p.Gln31His) n.715G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6867548G= | CA2014288108 | TPI1 | c.-19G= (n.-19G=) c.93G= (p.Gln31=) n.715G= | |
12 | g.6867548G>T | CA383708339 | TPI1 | c.-19G>T (n.-19G>T) c.93G>T (p.Gln31His) n.715G>T | |
12 | g.6867550_6867557del | CA2014288107 | TPI1 | c.-17_-10del (n.-17_-10del) c.95_102del (p.Arg32LeufsTer?) n.717_724del | dbSNP |
12 | g.6867549C>A | CA232419884 | TPI1 | c.-18C>A (n.-18C>A) c.94C>A (p.Arg32Ser) n.716C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6867549C= | CA2014288109 | TPI1 | c.-18C= (n.-18C=) c.94C= (p.Arg32=) n.716C= | |
12 | g.6867549C>G | CA383708364 | TPI1 | c.-18C>G (n.-18C>G) c.94C>G (p.Arg32Gly) n.716C>G | |
12 | g.6867549C>T | CA6418773 | TPI1 | c.-18C>T (n.-18C>T) c.94C>T (p.Arg32Cys) n.716C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867550G>A | CA383708365 | TPI1 | c.-17G>A (n.-17G>A) c.95G>A (p.Arg32His) n.717G>A | gnomAD v4 |
12 | g.6867550G>C | CA6418774 | TPI1 | c.-17G>C (n.-17G>C) c.95G>C (p.Arg32Pro) n.717G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867550G= | CA2014288110 | TPI1 | c.-17G= (n.-17G=) c.95G= (p.Arg32=) n.717G= | |
12 | g.6867550G>T | CA383708366 | TPI1 | c.-17G>T (n.-17G>T) c.95G>T (p.Arg32Leu) n.717G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867551C>A | CA478163809 | TPI1 | c.-16C>A (n.-16C>A) c.96C>A (p.Arg32=) n.718C>A | gnomAD v4 |
12 | g.6867551C>G | CA478163807 | TPI1 | c.-16C>G (n.-16C>G) c.96C>G (p.Arg32=) n.718C>G | gnomAD v4 |
12 | g.6867551C>T | CA478163808 | TPI1 | c.-16C>T (n.-16C>T) c.96C>T (p.Arg32=) n.718C>T | gnomAD v4 |
12 | g.6867552C>A | CA6418776 | TPI1 | c.-15C>A (n.-15C>A) c.97C>A (p.Leu33Ile) n.719C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867552C= | CA2014288111 | TPI1 | c.-15C= (n.-15C=) c.97C= (p.Leu33=) n.719C= | |
12 | g.6867552C>G | CA383708368 | TPI1 | c.-15C>G (n.-15C>G) c.97C>G (p.Leu33Val) n.719C>G | |
12 | g.6867552C>T | CA6418775 | TPI1 | c.-15C>T (n.-15C>T) c.97C>T (p.Leu33Phe) n.719C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867553T>A | CA383708380 | TPI1 | c.-14T>A (n.-14T>A) c.98T>A (p.Leu33His) n.720T>A | gnomAD v4 |
12 | g.6867553T>C | CA383708386 | TPI1 | c.-14T>C (n.-14T>C) c.98T>C (p.Leu33Pro) n.720T>C | dbSNP |
12 | g.6867553T>G | CA383708388 | TPI1 | c.-14T>G (n.-14T>G) c.98T>G (p.Leu33Arg) n.720T>G | gnomAD v4 |
12 | g.6867553T= | CA2014288112 | TPI1 | c.-14T= (n.-14T=) c.98T= (p.Leu33=) n.720T= | |
12 | g.6867554C>A | CA6418778 | TPI1 | c.-13C>A (n.-13C>A) c.99C>A (p.Leu33=) n.721C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867554C= | CA2014288113 | TPI1 | c.-13C= (n.-13C=) c.99C= (p.Leu33=) n.721C= | |
12 | g.6867554C>G | CA478163813 | TPI1 | c.-13C>G (n.-13C>G) c.99C>G (p.Leu33=) n.721C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867554C>T | CA6418777 | TPI1 | c.-13C>T (n.-13C>T) c.99C>T (p.Leu33=) n.721C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6867555G>A | CA383708397 | TPI1 | c.-12G>A (n.-12G>A) c.100G>A (p.Gly34Ser) n.722G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867555G>C | CA6418780 | TPI1 | c.-12G>C (n.-12G>C) c.100G>C (p.Gly34Arg) n.722G>C | dbSNP ExAC gnomAD v2 |
12 | g.6867555G= | CA2014288114 | TPI1 | c.-12G= (n.-12G=) c.100G= (p.Gly34=) n.722G= | |
12 | g.6867555G>T | CA383708408 | TPI1 | c.-12G>T (n.-12G>T) c.100G>T (p.Gly34Cys) n.722G>T | |
12 | g.6867556G>A | CA6418781 | TPI1 | c.-11G>A (n.-11G>A) c.101G>A (p.Gly34Asp) n.723G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867556G>C | CA383708415 | TPI1 | c.-11G>C (n.-11G>C) c.101G>C (p.Gly34Ala) n.723G>C | |
12 | g.6867556G= | CA2014288115 | TPI1 | c.-11G= (n.-11G=) c.101G= (p.Gly34=) n.723G= | |
12 | g.6867556G>T | CA383708414 | TPI1 | c.-11G>T (n.-11G>T) c.101G>T (p.Gly34Val) n.723G>T | |
12 | g.6867556_6867573dup | CA6418779 | TPI1 | c.-11_7dup (p.Ala2_Pro3insArgSerSerAlaMetAla) c.101_118dup (p.Ala39_Pro40insArgSerSerAlaMetAla) n.723_740dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867557C>A | CA478163816 | TPI1 | c.-10C>A (n.-10C>A) c.102C>A (p.Gly34=) n.724C>A | |
12 | g.6867557C= | CA2014288116 | TPI1 | c.-10C= (n.-10C=) c.102C= (p.Gly34=) n.724C= | |
12 | g.6867557C>G | CA478163815 | TPI1 | c.-10C>G (n.-10C>G) c.102C>G (p.Gly34=) n.724C>G | gnomAD v4 |
12 | g.6867557C>T | CA478163817 | TPI1 | c.-10C>T (n.-10C>T) c.102C>T (p.Gly34=) n.724C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867558T>A | CA383708416 | TPI1 | c.-9T>A (n.-9T>A) c.103T>A (p.Ser35Thr) n.725T>A | |
12 | g.6867558T>C | CA383708417 | TPI1 | c.-9T>C (n.-9T>C) c.103T>C (p.Ser35Pro) n.725T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6867558T>G | CA383708418 | TPI1 | c.-9T>G (n.-9T>G) c.103T>G (p.Ser35Ala) n.725T>G | dbSNP gnomAD v4 |
12 | g.6867558T= | CA2014288117 | TPI1 | c.-9T= (n.-9T=) c.103T= (p.Ser35=) n.725T= | |
12 | g.6867559C>A | CA383708422 | TPI1 | c.-8C>A (n.-8C>A) c.104C>A (p.Ser35Tyr) n.726C>A | |
12 | g.6867559C= | CA2014288118 | TPI1 | c.-8C= (n.-8C=) c.104C= (p.Ser35=) n.726C= | |
12 | g.6867559C>G | CA383708427 | TPI1 | c.-8C>G (n.-8C>G) c.104C>G (p.Ser35Cys) n.726C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867559C>T | CA6418782 | TPI1 | c.-8C>T (n.-8C>T) c.104C>T (p.Ser35Phe) n.726C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867560C>A | CA478163818 | TPI1 | c.-7C>A (n.-7C>A) c.105C>A (p.Ser35=) n.727C>A | |
12 | g.6867560C= | CA2014288119 | TPI1 | c.-7C= (n.-7C=) c.105C= (p.Ser35=) n.727C= | |
12 | g.6867560C>G | CA478163819 | TPI1 | c.-7C>G (n.-7C>G) c.105C>G (p.Ser35=) n.727C>G | gnomAD v4 |
12 | g.6867560C>T | CA478163820 | TPI1 | c.-7C>T (n.-7C>T) c.105C>T (p.Ser35=) n.727C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.6867561A= | CA2014288120 | TPI1 | c.-6A= (n.-6A=) c.106A= (p.Ser36=) n.728A= | |
12 | g.6867561A>C | CA6418783 | TPI1 | c.-6A>C (n.-6A>C) c.106A>C (p.Ser36Arg) n.728A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867561A>G | CA6418784 | TPI1 | c.-6A>G (n.-6A>G) c.106A>G (p.Ser36Gly) n.728A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867561A>T | CA383708443 | TPI1 | c.-6A>T (n.-6A>T) c.106A>T (p.Ser36Cys) n.728A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867562G>A | CA383708450 | TPI1 | c.-5G>A (n.-5G>A) c.107G>A (p.Ser36Asn) n.729G>A | |
12 | g.6867562G>C | CA383708452 | TPI1 | c.-5G>C (n.-5G>C) c.107G>C (p.Ser36Thr) n.729G>C | gnomAD v4 |
12 | g.6867562G= | CA2014288121 | TPI1 | c.-5G= (n.-5G=) c.107G= (p.Ser36=) n.729G= | |
12 | g.6867562G>T | CA383708445 | TPI1 | c.-5G>T (n.-5G>T) c.107G>T (p.Ser36Ile) n.729G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6867563C>A | CA383708455 | TPI1 | c.-4C>A (n.-4C>A) c.108C>A (p.Ser36Arg) n.730C>A | |
12 | g.6867563C= | CA2014288122 | TPI1 | c.-4C= (n.-4C=) c.108C= (p.Ser36=) n.730C= | |
12 | g.6867563C>G | CA6418785 | TPI1 | c.-4C>G (n.-4C>G) c.108C>G (p.Ser36Arg) n.730C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6867563C>T | CA6418786 | TPI1 | c.-4C>T (n.-4C>T) c.108C>T (p.Ser36=) n.730C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867564G>A | CA6418787 | TPI1 | c.-3G>A (n.-3G>A) c.109G>A (p.Ala37Thr) n.731G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867564G>C | CA383708464 | TPI1 | c.-3G>C (n.-3G>C) c.109G>C (p.Ala37Pro) n.731G>C | dbSNP |
12 | g.6867564G= | CA2014288124 | TPI1 | c.-3G= (n.-3G=) c.109G= (p.Ala37=) n.731G= | |
12 | g.6867564G>T | CA383708468 | TPI1 | c.-3G>T (n.-3G>T) c.109G>T (p.Ala37Ser) n.731G>T | |
12 | g.6867564_6867565delinsGC | CA2014288123 | TPI1 | c.-3_-2delinsGC (n.-3_-2delinsGC) c.109_110delinsGC (p.Ala37=) n.731_732delinsGC | |
12 | g.6867565C>A | CA383708469 | TPI1 | c.-2C>A (n.-2C>A) c.110C>A (p.Ala37Asp) n.732C>A | gnomAD v4 |
12 | g.6867565C= | CA2014288126 | TPI1 | c.-2C= (n.-2C=) c.110C= (p.Ala37=) n.732C= | |
12 | g.6867565C>G | CA383708470 | TPI1 | c.-2C>G (n.-2C>G) c.110C>G (p.Ala37Gly) n.732C>G | |
12 | g.6867565C>T | CA383708481 | TPI1 | c.-2C>T (n.-2C>T) c.110C>T (p.Ala37Val) n.732C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867566del | CA2014288125 | TPI1 | c.-1del (n.-1del) c.111del (p.Met38TrpfsTer15) n.733del | dbSNP gnomAD v4 |
12 | g.6867566C>A | CA478163823 | TPI1 | c.-1C>A (n.-1C>A) c.111C>A (p.Ala37=) n.733C>A | |
12 | g.6867566C= | CA2014288127 | TPI1 | c.-1C= (n.-1C=) c.111C= (p.Ala37=) n.733C= | |
12 | g.6867566C>G | CA478163825 | TPI1 | c.-1C>G (n.-1C>G) c.111C>G (p.Ala37=) n.733C>G | |
12 | g.6867566C>T | CA6418788 | TPI1 | c.-1C>T (n.-1C>T) c.111C>T (p.Ala37=) n.733C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867567A= | CA2014288128 | TPI1 | c.1A= (p.Met1=) c.112A= (p.Met38=) n.734A= | |
12 | g.6867567A>C | CA383708493 | TPI1 | c.1A>C (p.Met1Leu) c.112A>C (p.Met38Leu) n.734A>C | |
12 | g.6867567A>G | CA232419941 | TPI1 | c.1A>G (p.Met1Val) c.112A>G (p.Met38Val) n.734A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867567A>T | CA6418789 | TPI1 | c.1A>T (p.Met1Leu) c.112A>T (p.Met38Leu) n.734A>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.6867568T>A | CA6418790 | TPI1 | c.2T>A (p.Met1Lys) c.113T>A (p.Met38Lys) n.735T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867568T>C | CA383708503 | TPI1 | c.2T>C (p.Met1Thr) c.113T>C (p.Met38Thr) n.735T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6867568T>G | CA383708499 | TPI1 | c.2T>G (p.Met1Arg) c.113T>G (p.Met38Arg) n.735T>G | |
12 | g.6867568T= | CA2014288129 | TPI1 | c.2T= (p.Met1=) c.113T= (p.Met38=) n.735T= | |
12 | g.6867569G>A | CA383708514 | TPI1 | c.3G>A (p.Met1Ile) c.114G>A (p.Met38Ile) n.736G>A | dbSNP gnomAD v4 |
12 | g.6867569G>C | CA383708515 | TPI1 | c.3G>C (p.Met1Ile) c.114G>C (p.Met38Ile) n.736G>C | |
12 | g.6867569G= | CA2014288130 | TPI1 | c.3G= (p.Met1=) c.114G= (p.Met38=) n.736G= | |
12 | g.6867569G>T | CA383708519 | TPI1 | c.3G>T (p.Met1Ile) c.114G>T (p.Met38Ile) n.736G>T | |
12 | g.6867570G>A | CA383708522 | TPI1 | c.4G>A (p.Ala2Thr) c.115G>A (p.Ala39Thr) n.737G>A | gnomAD v4 |
12 | g.6867570G>C | CA383708523 | TPI1 | c.4G>C (p.Ala2Pro) c.115G>C (p.Ala39Pro) n.737G>C | |
12 | g.6867570G>T | CA383708524 | TPI1 | c.4G>T (p.Ala2Ser) c.115G>T (p.Ala39Ser) n.737G>T | |
12 | g.6867571C>A | CA383708525 | TPI1 | c.5C>A (p.Ala2Glu) c.116C>A (p.Ala39Glu) n.738C>A | dbSNP gnomAD v4 |
12 | g.6867571C= | CA2014288131 | TPI1 | c.5C= (p.Ala2=) c.116C= (p.Ala39=) n.738C= | |
12 | g.6867571C>G | CA383708526 | TPI1 | c.5C>G (p.Ala2Gly) c.116C>G (p.Ala39Gly) n.738C>G | gnomAD v4 |
12 | g.6867571C>T | CA6418791 | TPI1 | c.5C>T (p.Ala2Val) c.116C>T (p.Ala39Val) n.738C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867572G>A | CA478163830 | TPI1 | c.6G>A (p.Ala2=) c.117G>A (p.Ala39=) n.739G>A | gnomAD v4 |
12 | g.6867572G>C | CA478163829 | TPI1 | c.6G>C (p.Ala2=) c.117G>C (p.Ala39=) n.739G>C | gnomAD v4 |
12 | g.6867572G= | CA2014288132 | TPI1 | c.6G= (p.Ala2=) c.117G= (p.Ala39=) n.739G= | |
12 | g.6867572G>T | CA478163828 | TPI1 | c.6G>T (p.Ala2=) c.117G>T (p.Ala39=) n.739G>T | ClinVar dbSNP gnomAD v4 |
12 | g.6867573C>A | CA383708527 | TPI1 | c.7C>A (p.Pro3Thr) c.118C>A (p.Pro40Thr) n.740C>A | gnomAD v4 |
12 | g.6867573C= | CA2014288133 | TPI1 | c.7C= (p.Pro3=) c.118C= (p.Pro40=) n.740C= | |
12 | g.6867573C>G | CA383708529 | TPI1 | c.7C>G (p.Pro3Ala) c.118C>G (p.Pro40Ala) n.740C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6867573C>T | CA383708532 | TPI1 | c.7C>T (p.Pro3Ser) c.118C>T (p.Pro40Ser) n.740C>T | |
12 | g.6867574C>A | CA383708538 | TPI1 | c.8C>A (p.Pro3His) c.119C>A (p.Pro40His) n.741C>A | |
12 | g.6867574C= | CA2014288134 | TPI1 | c.8C= (p.Pro3=) c.119C= (p.Pro40=) n.741C= | |
12 | g.6867574C>G | CA383708536 | TPI1 | c.8C>G (p.Pro3Arg) c.119C>G (p.Pro40Arg) n.741C>G | |
12 | g.6867574C>T | CA6418792 | TPI1 | c.8C>T (p.Pro3Leu) c.119C>T (p.Pro40Leu) n.741C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867575C>A | CA478163831 | TPI1 | c.9C>A (p.Pro3=) c.120C>A (p.Pro40=) n.742C>A | |
12 | g.6867575C= | CA2014288135 | TPI1 | c.9C= (p.Pro3=) c.120C= (p.Pro40=) n.742C= | |
12 | g.6867575C>G | CA478163833 | TPI1 | c.9C>G (p.Pro3=) c.120C>G (p.Pro40=) n.742C>G | gnomAD v4 |
12 | g.6867575C>T | CA232419954 | TPI1 | c.9C>T (p.Pro3=) c.120C>T (p.Pro40=) n.742C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6867576T>A | CA383708539 | TPI1 | c.10T>A (p.Ser4Thr) c.121T>A (p.Ser41Thr) n.743T>A | gnomAD v4 |
12 | g.6867576T>C | CA383708540 | TPI1 | c.10T>C (p.Ser4Pro) c.121T>C (p.Ser41Pro) n.743T>C | gnomAD v4 |
12 | g.6867576T>G | CA6418793 | TPI1 | c.10T>G (p.Ser4Ala) c.121T>G (p.Ser41Ala) n.743T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867576T= | CA2014288136 | TPI1 | c.10T= (p.Ser4=) c.121T= (p.Ser41=) n.743T= | |
12 | g.6867577C>A | CA383708542 | TPI1 | c.11C>A (p.Ser4Tyr) c.122C>A (p.Ser41Tyr) n.744C>A | dbSNP |
12 | g.6867577C= | CA2014288137 | TPI1 | c.11C= (p.Ser4=) c.122C= (p.Ser41=) n.744C= | |
12 | g.6867577C>G | CA383708545 | TPI1 | c.11C>G (p.Ser4Cys) c.122C>G (p.Ser41Cys) n.744C>G | |
12 | g.6867577C>T | CA383708551 | TPI1 | c.11C>T (p.Ser4Phe) c.122C>T (p.Ser41Phe) n.744C>T | dbSNP |
12 | g.6867578C>A | CA478163834 | TPI1 | c.12C>A (p.Ser4=) c.123C>A (p.Ser41=) n.745C>A | |
12 | g.6867578C= | CA2014288138 | TPI1 | c.12C= (p.Ser4=) c.123C= (p.Ser41=) n.745C= | |
12 | g.6867578C>G | CA478163835 | TPI1 | c.12C>G (p.Ser4=) c.123C>G (p.Ser41=) n.745C>G | |
12 | g.6867578C>T | CA6418794 | TPI1 | c.12C>T (p.Ser4=) c.123C>T (p.Ser41=) n.745C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.6867579A= | CA2014288139 | TPI1 | c.13A= (p.Arg5=) c.124A= (p.Arg42=) n.746A= | |
12 | g.6867579A>C | CA478163836 | TPI1 | c.13A>C (p.Arg5=) c.124A>C (p.Arg42=) n.746A>C | gnomAD v4 |
12 | g.6867579A>G | CA6418795 | TPI1 | c.13A>G (p.Arg5Gly) c.124A>G (p.Arg42Gly) n.746A>G | dbSNP ExAC gnomAD v2 |
12 | g.6867579A>T | CA383708559 | TPI1 | c.13A>T (p.Arg5Trp) c.124A>T (p.Arg42Trp) n.746A>T | |
12 | g.6867580G>A | CA383708573 | TPI1 | c.14G>A (p.Arg5Lys) c.125G>A (p.Arg42Lys) n.747G>A | gnomAD v4 |
12 | g.6867580G>C | CA383708576 | TPI1 | c.14G>C (p.Arg5Thr) c.125G>C (p.Arg42Thr) n.747G>C | |
12 | g.6867580G>T | CA383708578 | TPI1 | c.14G>T (p.Arg5Met) c.125G>T (p.Arg42Met) n.747G>T | |
12 | g.6867581G>A | CA478163840 | TPI1 | c.15G>A (p.Arg5=) c.126G>A (p.Arg42=) n.748G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867581G>C | CA383708581 | TPI1 | c.15G>C (p.Arg5Ser) c.126G>C (p.Arg42Ser) n.748G>C | |
12 | g.6867581G= | CA2014288141 | TPI1 | c.15G= (p.Arg5=) c.126G= (p.Arg42=) n.748G= | |
12 | g.6867581G>T | CA383708583 | TPI1 | c.15G>T (p.Arg5Ser) c.126G>T (p.Arg42Ser) n.748G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867581_6867582delinsGA | CA2014288140 | TPI1 | c.15_16delinsGA (p.Arg5=) c.126_127delinsGA (p.Arg42=) n.748_749delinsGA | |
12 | g.6867582A>C | CA383708600 | TPI1 | c.16A>C (p.Lys6Gln) c.127A>C (p.Lys43Gln) n.749A>C | |
12 | g.6867582A>G | CA383708592 | TPI1 | c.16A>G (p.Lys6Glu) c.127A>G (p.Lys43Glu) n.749A>G | |
12 | g.6867582A>T | CA383708596 | TPI1 | c.16A>T (p.Lys6Ter) c.127A>T (p.Lys43Ter) n.749A>T | |
12 | g.6867583del | CA691290792 | TPI1 | c.17del (p.Lys6SerfsTer10) c.128del (p.Lys43SerfsTer10) n.750del | dbSNP |
12 | g.6867583A= | CA2014288142 | TPI1 | c.17A= (p.Lys6=) c.128A= (p.Lys43=) n.750A= | |
12 | g.6867583A>C | CA383708609 | TPI1 | c.17A>C (p.Lys6Thr) c.128A>C (p.Lys43Thr) n.750A>C | |
12 | g.6867583A>G | CA383708612 | TPI1 | c.17A>G (p.Lys6Arg) c.128A>G (p.Lys43Arg) n.750A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867583A>T | CA383708639 | TPI1 | c.17A>T (p.Lys6Met) c.128A>T (p.Lys43Met) n.750A>T | |
12 | g.6867584G>A | CA478163841 | TPI1 | c.18G>A (p.Lys6=) c.129G>A (p.Lys43=) n.751G>A | |
12 | g.6867584G>C | CA383708643 | TPI1 | c.18G>C (p.Lys6Asn) c.129G>C (p.Lys43Asn) n.751G>C | |
12 | g.6867584G>T | CA383708645 | TPI1 | c.18G>T (p.Lys6Asn) c.129G>T (p.Lys43Asn) n.751G>T | |
12 | g.6867585T>A | CA6418796 | TPI1 | c.19T>A (p.Phe7Ile) c.130T>A (p.Phe44Ile) n.752T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867585T>C | CA383708653 | TPI1 | c.19T>C (p.Phe7Leu) c.130T>C (p.Phe44Leu) n.752T>C | |
12 | g.6867585T>G | CA383708654 | TPI1 | c.19T>G (p.Phe7Val) c.130T>G (p.Phe44Val) n.752T>G | dbSNP |
12 | g.6867585T= | CA2014288143 | TPI1 | c.19T= (p.Phe7=) c.130T= (p.Phe44=) n.752T= | |
12 | g.6867586T>A | CA383708658 | TPI1 | c.20T>A (p.Phe7Tyr) c.131T>A (p.Phe44Tyr) n.753T>A | |
12 | g.6867586T>C | CA383708660 | TPI1 | c.20T>C (p.Phe7Ser) c.131T>C (p.Phe44Ser) n.753T>C | dbSNP |
12 | g.6867586T>G | CA383708664 | TPI1 | c.20T>G (p.Phe7Cys) c.131T>G (p.Phe44Cys) n.753T>G | |
12 | g.6867586T= | CA2014288144 | TPI1 | c.20T= (p.Phe7=) c.131T= (p.Phe44=) n.753T= | |
12 | g.6867587C>A | CA383708678 | TPI1 | c.21C>A (p.Phe7Leu) c.132C>A (p.Phe44Leu) n.754C>A | gnomAD v4 |
12 | g.6867587C= | CA2014288145 | TPI1 | c.21C= (p.Phe7=) c.132C= (p.Phe44=) n.754C= | |
12 | g.6867587C>G | CA232420029 | TPI1 | c.21C>G (p.Phe7Leu) c.132C>G (p.Phe44Leu) n.754C>G | dbSNP |
12 | g.6867587C>T | CA6418797 | TPI1 | c.21C>T (p.Phe7=) c.132C>T (p.Phe44=) n.754C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867588T>A | CA383708687 | TPI1 | c.22T>A (p.Phe8Ile) c.133T>A (p.Phe45Ile) n.755T>A | |
12 | g.6867588T>C | CA383708689 | TPI1 | c.22T>C (p.Phe8Leu) c.133T>C (p.Phe45Leu) n.755T>C | |
12 | g.6867588T>G | CA383708694 | TPI1 | c.22T>G (p.Phe8Val) c.133T>G (p.Phe45Val) n.755T>G | gnomAD v4 |
12 | g.6867589T>A | CA383708700 | TPI1 | c.23T>A (p.Phe8Tyr) c.134T>A (p.Phe45Tyr) n.756T>A | |
12 | g.6867589T>C | CA383708708 | TPI1 | c.23T>C (p.Phe8Ser) c.134T>C (p.Phe45Ser) n.756T>C | |
12 | g.6867589T>G | CA383708715 | TPI1 | c.23T>G (p.Phe8Cys) c.134T>G (p.Phe45Cys) n.756T>G | |
12 | g.6867590C>A | CA383708722 | TPI1 | c.24C>A (p.Phe8Leu) c.135C>A (p.Phe45Leu) n.757C>A | |
12 | g.6867590C>G | CA383708719 | TPI1 | c.24C>G (p.Phe8Leu) c.135C>G (p.Phe45Leu) n.757C>G | |
12 | g.6867590C>T | CA478163845 | TPI1 | c.24C>T (p.Phe8=) c.135C>T (p.Phe45=) n.757C>T | COSMIC COSMIC |
12 | g.6867591del | CA2617358075 | TPI1 | c.25del (p.Val9LeufsTer7) c.136del (p.Val46LeufsTer7) n.758del | gnomAD v4 |
12 | g.6867591G>A | CA383708727 | TPI1 | c.25G>A (p.Val9Ile) c.136G>A (p.Val46Ile) n.758G>A | |
12 | g.6867591G>C | CA383708730 | TPI1 | c.25G>C (p.Val9Leu) c.136G>C (p.Val46Leu) n.758G>C | |
12 | g.6867591G>T | CA383708734 | TPI1 | c.25G>T (p.Val9Phe) c.136G>T (p.Val46Phe) n.758G>T | gnomAD v4 |
12 | g.6867592T>A | CA383708738 | TPI1 | c.26T>A (p.Val9Asp) c.137T>A (p.Val46Asp) n.759T>A | |
12 | g.6867592T>C | CA6418798 | TPI1 | c.26T>C (p.Val9Ala) c.137T>C (p.Val46Ala) n.759T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867592T>G | CA383708758 | TPI1 | c.26T>G (p.Val9Gly) c.137T>G (p.Val46Gly) n.759T>G | |
12 | g.6867592T= | CA2014288146 | TPI1 | c.26T= (p.Val9=) c.137T= (p.Val46=) n.759T= | |
12 | g.6867593T>A | CA478163848 | TPI1 | c.27T>A (p.Val9=) c.138T>A (p.Val46=) n.760T>A | |
12 | g.6867593T>C | CA478163847 | TPI1 | c.27T>C (p.Val9=) c.138T>C (p.Val46=) n.760T>C | dbSNP |
12 | g.6867593T>G | CA478163846 | TPI1 | c.27T>G (p.Val9=) c.138T>G (p.Val46=) n.760T>G | |
12 | g.6867593T= | CA2014288147 | TPI1 | c.27T= (p.Val9=) c.138T= (p.Val46=) n.760T= | |
12 | g.6867594G>A | CA383708763 | TPI1 | c.28G>A (p.Gly10Arg) c.139G>A (p.Gly47Arg) n.761G>A | |
12 | g.6867594G>C | CA383708775 | TPI1 | c.28G>C (p.Gly10Arg) c.139G>C (p.Gly47Arg) n.761G>C | |
12 | g.6867594G>T | CA383708772 | TPI1 | c.28G>T (p.Gly10Trp) c.139G>T (p.Gly47Trp) n.761G>T | |
12 | g.6867598dup | CA163142 | TPI1 | c.32dup (p.Asn12LysfsTer?) c.143dup (p.Asn49LysfsTer?) n.765dup | ClinVar dbSNP gnomAD v4 |
12 | g.6867598del | CA645570943 | TPI1 | c.32del (p.Gly11GlufsTer5) c.143del (p.Gly48GlufsTer5) n.765del | ClinVar COSMIC COSMIC |
12 | g.6867595G>A | CA383708778 | TPI1 | c.29G>A (p.Gly10Glu) c.140G>A (p.Gly47Glu) n.762G>A | |
12 | g.6867595G>C | CA383708780 | TPI1 | c.29G>C (p.Gly10Ala) c.140G>C (p.Gly47Ala) n.762G>C | |
12 | g.6867595G>T | CA383708783 | TPI1 | c.29G>T (p.Gly10Val) c.140G>T (p.Gly47Val) n.762G>T | |
12 | g.6867596G>A | CA478163849 | TPI1 | c.30G>A (p.Gly10=) c.141G>A (p.Gly47=) n.763G>A | gnomAD v4 |
12 | g.6867596G>C | CA478163850 | TPI1 | c.30G>C (p.Gly10=) c.141G>C (p.Gly47=) n.763G>C | gnomAD v4 |
12 | g.6867596G>T | CA478163851 | TPI1 | c.30G>T (p.Gly10=) c.141G>T (p.Gly47=) n.763G>T | |
12 | g.6867597G>A | CA383708791 | TPI1 | c.31G>A (p.Gly11Arg) c.142G>A (p.Gly48Arg) n.764G>A | dbSNP |
12 | g.6867597G>C | CA383708793 | TPI1 | c.31G>C (p.Gly11Arg) c.142G>C (p.Gly48Arg) n.764G>C | |
12 | g.6867597G= | CA2014288148 | TPI1 | c.31G= (p.Gly11=) c.142G= (p.Gly48=) n.764G= | |
12 | g.6867597G>T | CA383708798 | TPI1 | c.31G>T (p.Gly11Ter) c.142G>T (p.Gly48Ter) n.764G>T | dbSNP |
12 | g.6867598G>A | CA383708801 | TPI1 | c.32G>A (p.Gly11Glu) c.143G>A (p.Gly48Glu) n.765G>A | COSMIC |
12 | g.6867598G>C | CA383708804 | TPI1 | c.32G>C (p.Gly11Ala) c.143G>C (p.Gly48Ala) n.765G>C | dbSNP gnomAD v4 |
12 | g.6867598G= | CA2014288149 | TPI1 | c.32G= (p.Gly11=) c.143G= (p.Gly48=) n.765G= | |
12 | g.6867598G>T | CA383708809 | TPI1 | c.32G>T (p.Gly11Val) c.143G>T (p.Gly48Val) n.765G>T | |
12 | g.6867599A= | CA2014288150 | TPI1 | c.33A= (p.Gly11=) c.144A= (p.Gly48=) n.766A= | |
12 | g.6867599A>C | CA478163852 | TPI1 | c.33A>C (p.Gly11=) c.144A>C (p.Gly48=) n.766A>C | |
12 | g.6867599A>G | CA6418799 | TPI1 | c.33A>G (p.Gly11=) c.144A>G (p.Gly48=) n.766A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867599A>T | CA478163853 | TPI1 | c.33A>T (p.Gly11=) c.144A>T (p.Gly48=) n.766A>T | |
12 | g.6867600A= | CA2014288151 | TPI1 | c.34A= (p.Asn12=) c.145A= (p.Asn49=) n.767A= | |
12 | g.6867600A>C | CA383708820 | TPI1 | c.34A>C (p.Asn12His) c.145A>C (p.Asn49His) n.767A>C | |
12 | g.6867600A>G | CA6418800 | TPI1 | c.34A>G (p.Asn12Asp) c.145A>G (p.Asn49Asp) n.767A>G | dbSNP ExAC gnomAD v2 |
12 | g.6867600A>T | CA383708838 | TPI1 | c.34A>T (p.Asn12Tyr) c.145A>T (p.Asn49Tyr) n.767A>T | |
12 | g.6867601A>C | CA383708848 | TPI1 | c.35A>C (p.Asn12Thr) c.146A>C (p.Asn49Thr) n.768A>C | |
12 | g.6867601A>G | CA383708844 | TPI1 | c.35A>G (p.Asn12Ser) c.146A>G (p.Asn49Ser) n.768A>G | |
12 | g.6867601A>T | CA383708843 | TPI1 | c.35A>T (p.Asn12Ile) c.146A>T (p.Asn49Ile) n.768A>T | |
12 | g.6867602del | CA2575061966 | TPI1 | c.36del (p.Trp13GlyfsTer3) c.147del (p.Trp50GlyfsTer3) n.769del | |
12 | g.6867602C>A | CA383708862 | TPI1 | c.36C>A (p.Asn12Lys) c.147C>A (p.Asn49Lys) n.769C>A | |
12 | g.6867602C>G | CA383708859 | TPI1 | c.36C>G (p.Asn12Lys) c.147C>G (p.Asn49Lys) n.769C>G | |
12 | g.6867602C>T | CA478163854 | TPI1 | c.36C>T (p.Asn12=) c.147C>T (p.Asn49=) n.769C>T | |
12 | g.6867603T>A | CA383708875 | TPI1 | c.37T>A (p.Trp13Arg) c.148T>A (p.Trp50Arg) n.770T>A | |
12 | g.6867603T>C | CA383708872 | TPI1 | c.37T>C (p.Trp13Arg) c.148T>C (p.Trp50Arg) n.770T>C | ClinVar |
12 | g.6867603T>G | CA6418801 | TPI1 | c.37T>G (p.Trp13Gly) c.148T>G (p.Trp50Gly) n.770T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867603T= | CA2014288152 | TPI1 | c.37T= (p.Trp13=) c.148T= (p.Trp50=) n.770T= | |
12 | g.6867603_6867604del | CA2617358103 | TPI1 | c.37_38del (p.Trp13GlufsTer?) c.148_149del (p.Trp50GlufsTer?) n.770_771del | gnomAD v4 |
12 | g.6867604G>A | CA383708881 | TPI1 | c.38G>A (p.Trp13Ter) c.149G>A (p.Trp50Ter) n.771G>A | |
12 | g.6867604G>C | CA383708886 | TPI1 | c.38G>C (p.Trp13Ser) c.149G>C (p.Trp50Ser) n.771G>C | |
12 | g.6867604G>T | CA383708883 | TPI1 | c.38G>T (p.Trp13Leu) c.149G>T (p.Trp50Leu) n.771G>T | |
12 | g.6867605G>A | CA383708888 | TPI1 | c.39G>A (p.Trp13Ter) c.150G>A (p.Trp50Ter) n.772G>A | |
12 | g.6867605G>C | CA383708889 | TPI1 | c.39G>C (p.Trp13Cys) c.150G>C (p.Trp50Cys) n.772G>C | |
12 | g.6867605G= | CA2014288153 | TPI1 | c.39G= (p.Trp13=) c.150G= (p.Trp50=) n.772G= | |
12 | g.6867605G>T | CA383708891 | TPI1 | c.39G>T (p.Trp13Cys) c.150G>T (p.Trp50Cys) n.772G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867606A>C | CA383708894 | TPI1 | c.40A>C (p.Lys14Gln) c.151A>C (p.Lys51Gln) n.773A>C | |
12 | g.6867606A>G | CA383708897 | TPI1 | c.40A>G (p.Lys14Glu) c.151A>G (p.Lys51Glu) n.773A>G | |
12 | g.6867606A>T | CA383708906 | TPI1 | c.40A>T (p.Lys14Ter) c.151A>T (p.Lys51Ter) n.773A>T | |
12 | g.6867607A>C | CA383708907 | TPI1 | c.41A>C (p.Lys14Thr) c.152A>C (p.Lys51Thr) n.774A>C | |
12 | g.6867607A>G | CA383708908 | TPI1 | c.41A>G (p.Lys14Arg) c.152A>G (p.Lys51Arg) n.774A>G | gnomAD v4 |
12 | g.6867607A>T | CA383708909 | TPI1 | c.41A>T (p.Lys14Met) c.152A>T (p.Lys51Met) n.774A>T | |
12 | g.6867608G>A | CA6418802 | TPI1 | c.42G>A (p.Lys14=) c.153G>A (p.Lys51=) n.775G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867608G>C | CA383708911 | TPI1 | c.42G>C (p.Lys14Asn) c.153G>C (p.Lys51Asn) n.775G>C | |
12 | g.6867608G= | CA2014288154 | TPI1 | c.42G= (p.Lys14=) c.153G= (p.Lys51=) n.775G= | |
12 | g.6867608G>T | CA383708913 | TPI1 | c.42G>T (p.Lys14Asn) c.153G>T (p.Lys51Asn) n.775G>T | |
12 | g.6867609A>C | CA383708925 | TPI1 | c.43A>C (p.Met15Leu) c.154A>C (p.Met52Leu) n.776A>C | |
12 | g.6867609A>G | CA383708916 | TPI1 | c.43A>G (p.Met15Val) c.154A>G (p.Met52Val) n.776A>G | |
12 | g.6867609A>T | CA383708919 | TPI1 | c.43A>T (p.Met15Leu) c.154A>T (p.Met52Leu) n.776A>T | |
12 | g.6867610T>A | CA383708927 | TPI1 | c.44T>A (p.Met15Lys) c.155T>A (p.Met52Lys) n.777T>A | |
12 | g.6867610T>C | CA383708930 | TPI1 | c.44T>C (p.Met15Thr) c.155T>C (p.Met52Thr) n.777T>C | |
12 | g.6867610T>G | CA383708933 | TPI1 | c.44T>G (p.Met15Arg) c.155T>G (p.Met52Arg) n.777T>G | |
12 | g.6867611G>A | CA6418803 | TPI1 | c.45G>A (p.Met15Ile) c.156G>A (p.Met52Ile) n.778G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6867611G>C | CA383708939 | TPI1 | c.45G>C (p.Met15Ile) c.156G>C (p.Met52Ile) n.778G>C | |
12 | g.6867611G= | CA2014288155 | TPI1 | c.45G= (p.Met15=) c.156G= (p.Met52=) n.778G= | |
12 | g.6867611G>T | CA383708942 | TPI1 | c.45G>T (p.Met15Ile) c.156G>T (p.Met52Ile) n.778G>T | |
12 | g.6867612A>C | CA383708944 | TPI1 | c.46A>C (p.Asn16His) c.157A>C (p.Asn53His) n.779A>C | |
12 | g.6867612A>G | CA383708947 | TPI1 | c.46A>G (p.Asn16Asp) c.157A>G (p.Asn53Asp) n.779A>G | |
12 | g.6867612A>T | CA383708950 | TPI1 | c.46A>T (p.Asn16Tyr) c.157A>T (p.Asn53Tyr) n.779A>T | |
12 | g.6867613A>C | CA383708952 | TPI1 | c.47A>C (p.Asn16Thr) c.158A>C (p.Asn53Thr) n.780A>C | |
12 | g.6867613A>G | CA383708954 | TPI1 | c.47A>G (p.Asn16Ser) c.158A>G (p.Asn53Ser) n.780A>G | |
12 | g.6867613A>T | CA383708957 | TPI1 | c.47A>T (p.Asn16Ile) c.158A>T (p.Asn53Ile) n.780A>T | |
12 | g.6867614C>A | CA383708961 | TPI1 | c.48C>A (p.Asn16Lys) c.159C>A (p.Asn53Lys) n.781C>A | dbSNP gnomAD v4 |
12 | g.6867614C= | CA2014288156 | TPI1 | c.48C= (p.Asn16=) c.159C= (p.Asn53=) n.781C= | |
12 | g.6867614C>G | CA383708960 | TPI1 | c.48C>G (p.Asn16Lys) c.159C>G (p.Asn53Lys) n.781C>G | |
12 | g.6867614C>T | CA478163855 | TPI1 | c.48C>T (p.Asn16=) c.159C>T (p.Asn53=) n.781C>T | |
12 | g.6867615G>A | CA383708962 | TPI1 | c.49G>A (p.Gly17Arg) c.160G>A (p.Gly54Arg) n.782G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867615G>C | CA383708964 | TPI1 | c.49G>C (p.Gly17Arg) c.160G>C (p.Gly54Arg) n.782G>C | |
12 | g.6867615G= | CA2014288157 | TPI1 | c.49G= (p.Gly17=) c.160G= (p.Gly54=) n.782G= | |
12 | g.6867615G>T | CA383708966 | TPI1 | c.49G>T (p.Gly17Trp) c.160G>T (p.Gly54Trp) n.782G>T | |
12 | g.6867616G>A | CA383708967 | TPI1 | c.50G>A (p.Gly17Glu) c.161G>A (p.Gly54Glu) n.783G>A | |
12 | g.6867616G>C | CA383708969 | TPI1 | c.50G>C (p.Gly17Ala) c.161G>C (p.Gly54Ala) n.783G>C | gnomAD v4 |
12 | g.6867616G= | CA2014288158 | TPI1 | c.50G= (p.Gly17=) c.161G= (p.Gly54=) n.783G= | |
12 | g.6867616G>T | CA232420053 | TPI1 | c.50G>T (p.Gly17Val) c.161G>T (p.Gly54Val) n.783G>T | dbSNP |
12 | g.6867617G>A | CA478163857 | TPI1 | c.51G>A (p.Gly17=) c.162G>A (p.Gly54=) n.784G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867617G>C | CA478163858 | TPI1 | c.51G>C (p.Gly17=) c.162G>C (p.Gly54=) n.784G>C | |
12 | g.6867617G= | CA2014288159 | TPI1 | c.51G= (p.Gly17=) c.162G= (p.Gly54=) n.784G= | |
12 | g.6867617G>T | CA478163859 | TPI1 | c.51G>T (p.Gly17=) c.162G>T (p.Gly54=) n.784G>T | |
12 | g.6867618C>A | CA478163860 | TPI1 | c.52C>A (p.Arg18=) c.163C>A (p.Arg55=) n.785C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867618C= | CA2014288160 | TPI1 | c.52C= (p.Arg18=) c.163C= (p.Arg55=) n.785C= | |
12 | g.6867618C>G | CA383708972 | TPI1 | c.52C>G (p.Arg18Gly) c.163C>G (p.Arg55Gly) n.785C>G | |
12 | g.6867618C>T | CA383708970 | TPI1 | c.52C>T (p.Arg18Trp) c.163C>T (p.Arg55Trp) n.785C>T | |
12 | g.6867618_6867619insTT | CA603486537 | TPI1 | c.52_53insTT (p.Arg18LeufsTer13) c.163_164insTT (p.Arg55LeufsTer13) n.785_786insTT | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867619G>A | CA383708974 | TPI1 | c.53G>A (p.Arg18Gln) c.164G>A (p.Arg55Gln) n.786G>A | |
12 | g.6867619G>C | CA383708975 | TPI1 | c.53G>C (p.Arg18Pro) c.164G>C (p.Arg55Pro) n.786G>C | |
12 | g.6867619G>T | CA383708977 | TPI1 | c.53G>T (p.Arg18Leu) c.164G>T (p.Arg55Leu) n.786G>T | |
12 | g.6867620G>A | CA478163863 | TPI1 | c.54G>A (p.Arg18=) c.165G>A (p.Arg55=) n.787G>A | gnomAD v4 |
12 | g.6867620G>C | CA478163866 | TPI1 | c.54G>C (p.Arg18=) c.165G>C (p.Arg55=) n.787G>C | |
12 | g.6867620G>T | CA478163865 | TPI1 | c.54G>T (p.Arg18=) c.165G>T (p.Arg55=) n.787G>T | |
12 | g.6867621A>C | CA383708980 | TPI1 | c.55A>C (p.Lys19Gln) c.166A>C (p.Lys56Gln) n.788A>C | |
12 | g.6867621A>G | CA383708982 | TPI1 | c.55A>G (p.Lys19Glu) c.166A>G (p.Lys56Glu) n.788A>G | |
12 | g.6867621A>T | CA383708984 | TPI1 | c.55A>T (p.Lys19Ter) c.166A>T (p.Lys56Ter) n.788A>T | |
12 | g.6867622A>C | CA383708989 | TPI1 | c.56A>C (p.Lys19Thr) c.167A>C (p.Lys56Thr) n.789A>C | |
12 | g.6867622A>G | CA383708986 | TPI1 | c.56A>G (p.Lys19Arg) c.167A>G (p.Lys56Arg) n.789A>G | |
12 | g.6867622A>T | CA383708988 | TPI1 | c.56A>T (p.Lys19Met) c.167A>T (p.Lys56Met) n.789A>T | |
12 | g.6867623G>A | CA478163868 | TPI1 | c.57G>A (p.Lys19=) c.168G>A (p.Lys56=) n.790G>A | |
12 | g.6867623G>C | CA383708991 | TPI1 | c.57G>C (p.Lys19Asn) c.168G>C (p.Lys56Asn) n.790G>C | |
12 | g.6867623G>T | CA383708992 | TPI1 | c.57G>T (p.Lys19Asn) c.168G>T (p.Lys56Asn) n.790G>T | |
12 | g.6867624C>A | CA383708994 | TPI1 | c.58C>A (p.Gln20Lys) c.169C>A (p.Gln57Lys) n.791C>A | |
12 | g.6867624C= | CA2014288162 | TPI1 | c.58C= (p.Gln20=) c.169C= (p.Gln57=) n.791C= | |
12 | g.6867624C>G | CA383708997 | TPI1 | c.58C>G (p.Gln20Glu) c.169C>G (p.Gln57Glu) n.791C>G | |
12 | g.6867624C>T | CA383708999 | TPI1 | c.58C>T (p.Gln20Ter) c.169C>T (p.Gln57Ter) n.791C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6867624_6867626delinsCAG | CA2014288161 | TPI1 | c.58_60delinsCAG (p.Gln20=) c.169_171delinsCAG (p.Gln57=) n.791_793delinsCAG | |
12 | g.6867625A= | CA2014288163 | TPI1 | c.59A= (p.Gln20=) c.170A= (p.Gln57=) n.792A= | |
12 | g.6867625A>C | CA383709001 | TPI1 | c.59A>C (p.Gln20Pro) c.170A>C (p.Gln57Pro) n.792A>C | gnomAD v4 |
12 | g.6867625A>G | CA383709004 | TPI1 | c.59A>G (p.Gln20Arg) c.170A>G (p.Gln57Arg) n.792A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867625A>T | CA383709012 | TPI1 | c.59A>T (p.Gln20Leu) c.170A>T (p.Gln57Leu) n.792A>T | gnomAD v4 |
12 | g.6867627_6867628del | CA6418804 | TPI1 | c.61_62del (p.Leu22GlyfsTer?) c.172_173del (p.Leu59GlyfsTer?) n.794_795del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6867626G>A | CA478163872 | TPI1 | c.60G>A (p.Gln20=) c.171G>A (p.Gln57=) n.793G>A | |
12 | g.6867626G>C | CA383709015 | TPI1 | c.60G>C (p.Gln20His) c.171G>C (p.Gln57His) n.793G>C | gnomAD v4 |
12 | g.6867626G>T | CA383709016 | TPI1 | c.60G>T (p.Gln20His) c.171G>T (p.Gln57His) n.793G>T |