Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112477688C>A | CA481887660 | PTPN11 | c.891C>A (p.Pro297=) c.777C>A (p.Pro259=) c.888C>A (p.Pro296=) | dbSNP |
12 | g.112477688C>G | CA481887662 | PTPN11 | c.891C>G (p.Pro297=) c.777C>G (p.Pro259=) c.888C>G (p.Pro296=) | dbSNP |
12 | g.112477688C>T | CA481887664 | PTPN11 | c.891C>T (p.Pro297=) c.777C>T (p.Pro259=) c.888C>T (p.Pro296=) | dbSNP |
12 | g.112477689A= | CA2063775738 | PTPN11 | c.892A= (p.Asn298=) c.778A= (p.Asn260=) c.889A= (p.Asn297=) | |
12 | g.112477689A>C | CA386790627 | PTPN11 | c.892A>C (p.Asn298His) c.778A>C (p.Asn260His) c.889A>C (p.Asn297His) | |
12 | g.112477689A>G | CA243711925 | PTPN11 | c.892A>G (p.Asn298Asp) c.778A>G (p.Asn260Asp) c.889A>G (p.Asn297Asp) | dbSNP gnomAD v4 |
12 | g.112477689A>T | CA386790631 | PTPN11 | c.892A>T (p.Asn298Tyr) c.778A>T (p.Asn260Tyr) c.889A>T (p.Asn297Tyr) | |
12 | g.112477690A= | CA2063775743 | PTPN11 | c.893A= (p.Asn298=) c.779A= (p.Asn260=) c.890A= (p.Asn297=) | |
12 | g.112477690A>C | CA386790637 | PTPN11 | c.893A>C (p.Asn298Thr) c.779A>C (p.Asn260Thr) c.890A>C (p.Asn297Thr) | dbSNP |
12 | g.112477690A>G | CA297088 | PTPN11 | c.893A>G (p.Asn298Ser) c.779A>G (p.Asn260Ser) c.890A>G (p.Asn297Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477690A>T | CA386790639 | PTPN11 | c.893A>T (p.Asn298Ile) c.779A>T (p.Asn260Ile) c.890A>T (p.Asn297Ile) | |
12 | g.112477691T>A | CA386790642 | PTPN11 | c.894T>A (p.Asn298Lys) c.780T>A (p.Asn260Lys) c.891T>A (p.Asn297Lys) | dbSNP |
12 | g.112477691T>C | CA481887671 | PTPN11 | c.894T>C (p.Asn298=) c.780T>C (p.Asn260=) c.891T>C (p.Asn297=) | dbSNP COSMIC |
12 | g.112477691T>G | CA386790645 | PTPN11 | c.894T>G (p.Asn298Lys) c.780T>G (p.Asn260Lys) c.891T>G (p.Asn297Lys) | |
12 | g.112477691T= | CA2063775749 | PTPN11 | c.894T= (p.Asn298=) c.780T= (p.Asn260=) c.891T= (p.Asn297=) | |
12 | g.112477692G>A | CA386790649 | PTPN11 | c.895G>A (p.Glu299Lys) c.781G>A (p.Glu261Lys) c.892G>A (p.Glu298Lys) | dbSNP |
12 | g.112477692G>C | CA386790650 | PTPN11 | c.895G>C (p.Glu299Gln) c.781G>C (p.Glu261Gln) c.892G>C (p.Glu298Gln) | dbSNP |
12 | g.112477692G>T | CA386790652 | PTPN11 | c.895G>T (p.Glu299Ter) c.781G>T (p.Glu261Ter) c.892G>T (p.Glu298Ter) | |
12 | g.112477693A>C | CA386790656 | PTPN11 | c.896A>C (p.Glu299Ala) c.782A>C (p.Glu261Ala) c.893A>C (p.Glu298Ala) | |
12 | g.112477693A>G | CA386790659 | PTPN11 | c.896A>G (p.Glu299Gly) c.782A>G (p.Glu261Gly) c.893A>G (p.Glu298Gly) | |
12 | g.112477693A>T | CA386790661 | PTPN11 | c.896A>T (p.Glu299Val) c.782A>T (p.Glu261Val) c.893A>T (p.Glu298Val) | dbSNP |
12 | g.112477694G>A | CA6798675 | PTPN11 | c.897G>A (p.Glu299=) c.783G>A (p.Glu261=) c.894G>A (p.Glu298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477694G>C | CA386790667 | PTPN11 | c.897G>C (p.Glu299Asp) c.783G>C (p.Glu261Asp) c.894G>C (p.Glu298Asp) | dbSNP |
12 | g.112477694G= | CA2063775751 | PTPN11 | c.897G= (p.Glu299=) c.783G= (p.Glu261=) c.894G= (p.Glu298=) | |
12 | g.112477694G>T | CA386790666 | PTPN11 | c.897G>T (p.Glu299Asp) c.783G>T (p.Glu261Asp) c.894G>T (p.Glu298Asp) | dbSNP |
12 | g.112477695C>A | CA243711930 | PTPN11 | c.898C>A (p.Pro300Thr) c.784C>A (p.Pro262Thr) c.895C>A (p.Pro299Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477695C= | CA2063775754 | PTPN11 | c.898C= (p.Pro300=) c.784C= (p.Pro262=) c.895C= (p.Pro299=) | |
12 | g.112477695C>G | CA386790673 | PTPN11 | c.898C>G (p.Pro300Ala) c.784C>G (p.Pro262Ala) c.895C>G (p.Pro299Ala) | dbSNP |
12 | g.112477695C>T | CA386790676 | PTPN11 | c.898C>T (p.Pro300Ser) c.784C>T (p.Pro262Ser) c.895C>T (p.Pro299Ser) | dbSNP gnomAD v4 |
12 | g.112477696C>A | CA386790679 | PTPN11 | c.899C>A (p.Pro300His) c.785C>A (p.Pro262His) c.896C>A (p.Pro299His) | dbSNP |
12 | g.112477696C>G | CA386790682 | PTPN11 | c.899C>G (p.Pro300Arg) c.785C>G (p.Pro262Arg) c.896C>G (p.Pro299Arg) | dbSNP |
12 | g.112477696C>T | CA386790683 | PTPN11 | c.899C>T (p.Pro300Leu) c.785C>T (p.Pro262Leu) c.896C>T (p.Pro299Leu) | dbSNP |
12 | g.112477697T>A | CA243711932 | PTPN11 | c.900T>A (p.Pro300=) c.786T>A (p.Pro262=) c.897T>A (p.Pro299=) | dbSNP |
12 | g.112477697T>C | CA481887679 | PTPN11 | c.900T>C (p.Pro300=) c.786T>C (p.Pro262=) c.897T>C (p.Pro299=) | dbSNP |
12 | g.112477697T>G | CA481887678 | PTPN11 | c.900T>G (p.Pro300=) c.786T>G (p.Pro262=) c.897T>G (p.Pro299=) | |
12 | g.112477697T= | CA2063775755 | PTPN11 | c.900T= (p.Pro300=) c.786T= (p.Pro262=) c.897T= (p.Pro299=) | |
12 | g.112477698G>A | CA386790686 | PTPN11 | c.901G>A (p.Val301Ile) c.787G>A (p.Val263Ile) c.898G>A (p.Val300Ile) | dbSNP |
12 | g.112477698G>C | CA386790688 | PTPN11 | c.901G>C (p.Val301Leu) c.787G>C (p.Val263Leu) c.898G>C (p.Val300Leu) | dbSNP |
12 | g.112477698G>T | CA386790691 | PTPN11 | c.901G>T (p.Val301Phe) c.787G>T (p.Val263Phe) c.898G>T (p.Val300Phe) | |
12 | g.112477699T>A | CA386790693 | PTPN11 | c.902T>A (p.Val301Asp) c.788T>A (p.Val263Asp) c.899T>A (p.Val300Asp) | dbSNP |
12 | g.112477699T>C | CA386790696 | PTPN11 | c.902T>C (p.Val301Ala) c.788T>C (p.Val263Ala) c.899T>C (p.Val300Ala) | dbSNP |
12 | g.112477699T>G | CA386790698 | PTPN11 | c.902T>G (p.Val301Gly) c.788T>G (p.Val263Gly) c.899T>G (p.Val300Gly) | |
12 | g.112477700T>A | CA481887684 | PTPN11 | c.903T>A (p.Val301=) c.789T>A (p.Val263=) c.900T>A (p.Val300=) | |
12 | g.112477700T>C | CA481887686 | PTPN11 | c.903T>C (p.Val301=) c.789T>C (p.Val263=) c.900T>C (p.Val300=) | |
12 | g.112477700T>G | CA481887688 | PTPN11 | c.903T>G (p.Val301=) c.789T>G (p.Val263=) c.900T>G (p.Val300=) | gnomAD v4 |
12 | g.112477701T>A | CA386790704 | PTPN11 | c.904T>A (p.Ser302Thr) c.790T>A (p.Ser264Thr) c.901T>A (p.Ser301Thr) | dbSNP |
12 | g.112477701T>C | CA386790708 | PTPN11 | c.904T>C (p.Ser302Pro) c.790T>C (p.Ser264Pro) c.901T>C (p.Ser301Pro) | gnomAD v4 |
12 | g.112477701T>G | CA386790702 | PTPN11 | c.904T>G (p.Ser302Ala) c.790T>G (p.Ser264Ala) c.901T>G (p.Ser301Ala) | |
12 | g.112477702C>A | CA386790716 | PTPN11 | c.905C>A (p.Ser302Ter) c.791C>A (p.Ser264Ter) c.902C>A (p.Ser301Ter) | dbSNP |
12 | g.112477702C>G | CA386790711 | PTPN11 | c.905C>G (p.Ser302Ter) c.791C>G (p.Ser264Ter) c.902C>G (p.Ser301Ter) | dbSNP |
12 | g.112477702C>T | CA386790713 | PTPN11 | c.905C>T (p.Ser302Leu) c.791C>T (p.Ser264Leu) c.902C>T (p.Ser301Leu) | dbSNP |
12 | g.112477703A>C | CA481887690 | PTPN11 | c.906A>C (p.Ser302=) c.792A>C (p.Ser264=) c.903A>C (p.Ser301=) | |
12 | g.112477703A>G | CA481887692 | PTPN11 | c.906A>G (p.Ser302=) c.792A>G (p.Ser264=) c.903A>G (p.Ser301=) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.112477703A>T | CA481887694 | PTPN11 | c.906A>T (p.Ser302=) c.792A>T (p.Ser264=) c.903A>T (p.Ser301=) | |
12 | g.112477704G>A | CA386790720 | PTPN11 | c.907G>A (p.Asp303Asn) c.793G>A (p.Asp265Asn) c.904G>A (p.Asp302Asn) | dbSNP |
12 | g.112477704G>C | CA386790721 | PTPN11 | c.907G>C (p.Asp303His) c.793G>C (p.Asp265His) c.904G>C (p.Asp302His) | dbSNP |
12 | g.112477704G>T | CA386790724 | PTPN11 | c.907G>T (p.Asp303Tyr) c.793G>T (p.Asp265Tyr) c.904G>T (p.Asp302Tyr) | dbSNP |
12 | g.112477705A= | CA2063775757 | PTPN11 | c.908A= (p.Asp303=) c.794A= (p.Asp265=) c.905A= (p.Asp302=) | |
12 | g.112477705A>C | CA386790728 | PTPN11 | c.908A>C (p.Asp303Ala) c.794A>C (p.Asp265Ala) c.905A>C (p.Asp302Ala) | |
12 | g.112477705A>G | CA386790730 | PTPN11 | c.908A>G (p.Asp303Gly) c.794A>G (p.Asp265Gly) c.905A>G (p.Asp302Gly) | dbSNP |
12 | g.112477705A>T | CA386790732 | PTPN11 | c.908A>T (p.Asp303Val) c.794A>T (p.Asp265Val) c.905A>T (p.Asp302Val) | |
12 | g.112477706T>A | CA386790735 | PTPN11 | c.909T>A (p.Asp303Glu) c.795T>A (p.Asp265Glu) c.906T>A (p.Asp302Glu) | |
12 | g.112477706T>C | CA481887696 | PTPN11 | c.909T>C (p.Asp303=) c.795T>C (p.Asp265=) c.906T>C (p.Asp302=) | |
12 | g.112477706T>G | CA386790737 | PTPN11 | c.909T>G (p.Asp303Glu) c.795T>G (p.Asp265Glu) c.906T>G (p.Asp302Glu) | |
12 | g.112477707T>A | CA386790739 | PTPN11 | c.910T>A (p.Tyr304Asn) c.796T>A (p.Tyr266Asn) c.907T>A (p.Tyr303Asn) | dbSNP |
12 | g.112477707T>C | CA386790740 | PTPN11 | c.910T>C (p.Tyr304His) c.796T>C (p.Tyr266His) c.907T>C (p.Tyr303His) | dbSNP |
12 | g.112477707T>G | CA243711935 | PTPN11 | c.910T>G (p.Tyr304Asp) c.796T>G (p.Tyr266Asp) c.907T>G (p.Tyr303Asp) | dbSNP |
12 | g.112477707T= | CA2063775758 | PTPN11 | c.910T= (p.Tyr304=) c.796T= (p.Tyr266=) c.907T= (p.Tyr303=) | |
12 | g.112477708A>C | CA386790743 | PTPN11 | c.911A>C (p.Tyr304Ser) c.797A>C (p.Tyr266Ser) c.908A>C (p.Tyr303Ser) | |
12 | g.112477708A>G | CA386790741 | PTPN11 | c.911A>G (p.Tyr304Cys) c.797A>G (p.Tyr266Cys) c.908A>G (p.Tyr303Cys) | |
12 | g.112477708A>T | CA386790742 | PTPN11 | c.911A>T (p.Tyr304Phe) c.797A>T (p.Tyr266Phe) c.908A>T (p.Tyr303Phe) | dbSNP |
12 | g.112477709C>A | CA386790745 | PTPN11 | c.912C>A (p.Tyr304Ter) c.798C>A (p.Tyr266Ter) c.909C>A (p.Tyr303Ter) | |
12 | g.112477709C= | CA2063775760 | PTPN11 | c.912C= (p.Tyr304=) c.798C= (p.Tyr266=) c.909C= (p.Tyr303=) | |
12 | g.112477709C>G | CA386790751 | PTPN11 | c.912C>G (p.Tyr304Ter) c.798C>G (p.Tyr266Ter) c.909C>G (p.Tyr303Ter) | dbSNP |
12 | g.112477709C>T | CA481887700 | PTPN11 | c.912C>T (p.Tyr304=) c.798C>T (p.Tyr266=) c.909C>T (p.Tyr303=) | ClinVar dbSNP gnomAD v4 |
12 | g.112477710A= | CA2063775763 | PTPN11 | c.913A= (p.Ile305=) c.799A= (p.Ile267=) c.910A= (p.Ile304=) | |
12 | g.112477710A>C | CA386790755 | PTPN11 | c.913A>C (p.Ile305Leu) c.799A>C (p.Ile267Leu) c.910A>C (p.Ile304Leu) | |
12 | g.112477710A>G | CA297100 | PTPN11 | c.913A>G (p.Ile305Val) c.799A>G (p.Ile267Val) c.910A>G (p.Ile304Val) | ClinVar dbSNP gnomAD v4 |
12 | g.112477710A>T | CA386790757 | PTPN11 | c.913A>T (p.Ile305Phe) c.799A>T (p.Ile267Phe) c.910A>T (p.Ile304Phe) | dbSNP |
12 | g.112477711T>A | CA386790760 | PTPN11 | c.914T>A (p.Ile305Asn) c.800T>A (p.Ile267Asn) c.911T>A (p.Ile304Asn) | dbSNP |
12 | g.112477711T>C | CA386790763 | PTPN11 | c.914T>C (p.Ile305Thr) c.800T>C (p.Ile267Thr) c.911T>C (p.Ile304Thr) | |
12 | g.112477711T>G | CA386790765 | PTPN11 | c.914T>G (p.Ile305Ser) c.800T>G (p.Ile267Ser) c.911T>G (p.Ile304Ser) | |
12 | g.112477712C>A | CA481887706 | PTPN11 | c.915C>A (p.Ile305=) c.801C>A (p.Ile267=) c.912C>A (p.Ile304=) | |
12 | g.112477712C= | CA2063775765 | PTPN11 | c.915C= (p.Ile305=) c.801C= (p.Ile267=) c.912C= (p.Ile304=) | |
12 | g.112477712C>G | CA386790766 | PTPN11 | c.915C>G (p.Ile305Met) c.801C>G (p.Ile267Met) c.912C>G (p.Ile304Met) | dbSNP |
12 | g.112477712C>T | CA481887708 | PTPN11 | c.915C>T (p.Ile305=) c.801C>T (p.Ile267=) c.912C>T (p.Ile304=) | ClinVar dbSNP |
12 | g.112477713A>C | CA386790769 | PTPN11 | c.916A>C (p.Asn306His) c.802A>C (p.Asn268His) c.913A>C (p.Asn305His) | |
12 | g.112477713A>G | CA386790772 | PTPN11 | c.916A>G (p.Asn306Asp) c.802A>G (p.Asn268Asp) c.913A>G (p.Asn305Asp) | |
12 | g.112477713A>T | CA386790773 | PTPN11 | c.916A>T (p.Asn306Tyr) c.802A>T (p.Asn268Tyr) c.913A>T (p.Asn305Tyr) | |
12 | g.112477714A>C | CA386790779 | PTPN11 | c.917A>C (p.Asn306Thr) c.803A>C (p.Asn268Thr) c.914A>C (p.Asn305Thr) | |
12 | g.112477714A>G | CA386790776 | PTPN11 | c.917A>G (p.Asn306Ser) c.803A>G (p.Asn268Ser) c.914A>G (p.Asn305Ser) | COSMIC |
12 | g.112477714A>T | CA386790775 | PTPN11 | c.917A>T (p.Asn306Ile) c.803A>T (p.Asn268Ile) c.914A>T (p.Asn305Ile) | dbSNP |
12 | g.112477715T>A | CA386790784 | PTPN11 | c.918T>A (p.Asn306Lys) c.804T>A (p.Asn268Lys) c.915T>A (p.Asn305Lys) | dbSNP |
12 | g.112477715T>C | CA481887715 | PTPN11 | c.918T>C (p.Asn306=) c.804T>C (p.Asn268=) c.915T>C (p.Asn305=) | |
12 | g.112477715T>G | CA386790785 | PTPN11 | c.918T>G (p.Asn306Lys) c.804T>G (p.Asn268Lys) c.915T>G (p.Asn305Lys) | |
12 | g.112477718_112477741del | CA2695199174 | PTPN11 | c.921_933+11del c.807_819+11del c.918_930+11del | ClinVar |
12 | g.112477716G>A | CA386790787 | PTPN11 | c.919G>A (p.Ala307Thr) c.805G>A (p.Ala269Thr) c.916G>A (p.Ala306Thr) | dbSNP |
12 | g.112477716G>C | CA386790789 | PTPN11 | c.919G>C (p.Ala307Pro) c.805G>C (p.Ala269Pro) c.916G>C (p.Ala306Pro) | dbSNP |
12 | g.112477716G>T | CA386790791 | PTPN11 | c.919G>T (p.Ala307Ser) c.805G>T (p.Ala269Ser) c.916G>T (p.Ala306Ser) | gnomAD v4 |
12 | g.112477717C>A | CA386790793 | PTPN11 | c.920C>A (p.Ala307Glu) c.806C>A (p.Ala269Glu) c.917C>A (p.Ala306Glu) | COSMIC |
12 | g.112477717C>G | CA386790796 | PTPN11 | c.920C>G (p.Ala307Gly) c.806C>G (p.Ala269Gly) c.917C>G (p.Ala306Gly) | |
12 | g.112477717C>T | CA386790797 | PTPN11 | c.920C>T (p.Ala307Val) c.806C>T (p.Ala269Val) c.917C>T (p.Ala306Val) | |
12 | g.112477718A= | CA2063775769 | PTPN11 | c.921A= (p.Ala307=) c.807A= (p.Ala269=) c.918A= (p.Ala306=) | |
12 | g.112477718A>C | CA481887719 | PTPN11 | c.921A>C (p.Ala307=) c.807A>C (p.Ala269=) c.918A>C (p.Ala306=) | |
12 | g.112477718A>G | CA243711940 | PTPN11 | c.921A>G (p.Ala307=) c.807A>G (p.Ala269=) c.918A>G (p.Ala306=) | dbSNP |
12 | g.112477718A>T | CA481887724 | PTPN11 | c.921A>T (p.Ala307=) c.807A>T (p.Ala269=) c.918A>T (p.Ala306=) | dbSNP |
12 | g.112477719A= | CA2063775772 | PTPN11 | c.922A= (p.Asn308=) c.808A= (p.Asn270=) c.919A= (p.Asn307=) | |
12 | g.112477719A>C | CA386790803 | PTPN11 | c.922A>C (p.Asn308His) c.808A>C (p.Asn270His) c.919A>C (p.Asn307His) | |
12 | g.112477719A>G | CA220158 | PTPN11 | c.922A>G (p.Asn308Asp) c.808A>G (p.Asn270Asp) c.919A>G (p.Asn307Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477719A>T | CA386790812 | PTPN11 | c.922A>T (p.Asn308Tyr) c.808A>T (p.Asn270Tyr) c.919A>T (p.Asn307Tyr) | |
12 | g.112477720A= | CA2063775782 | PTPN11 | c.923A= (p.Asn308=) c.809A= (p.Asn270=) c.920A= (p.Asn307=) | |
12 | g.112477720A>C | CA261607 | PTPN11 | c.923A>C (p.Asn308Thr) c.809A>C (p.Asn270Thr) c.920A>C (p.Asn307Thr) | ClinVar dbSNP COSMIC |
12 | g.112477720A>G | CA235328 | PTPN11 | c.923A>G (p.Asn308Ser) c.809A>G (p.Asn270Ser) c.920A>G (p.Asn307Ser) | ClinVar dbSNP COSMIC |
12 | g.112477720A>T | CA386790819 | PTPN11 | c.923A>T (p.Asn308Ile) c.809A>T (p.Asn270Ile) c.920A>T (p.Asn307Ile) | |
12 | g.112477721T>A | CA386790823 | PTPN11 | c.924T>A (p.Asn308Lys) c.810T>A (p.Asn270Lys) c.921T>A (p.Asn307Lys) | dbSNP |
12 | g.112477721T>C | CA481887726 | PTPN11 | c.924T>C (p.Asn308=) c.810T>C (p.Asn270=) c.921T>C (p.Asn307=) | |
12 | g.112477721T>G | CA386790829 | PTPN11 | c.924T>G (p.Asn308Lys) c.810T>G (p.Asn270Lys) c.921T>G (p.Asn307Lys) | |
12 | g.112477722A= | CA2063775795 | PTPN11 | c.925A= (p.Ile309=) c.811A= (p.Ile271=) c.922A= (p.Ile308=) | |
12 | g.112477722A>C | CA386790833 | PTPN11 | c.925A>C (p.Ile309Leu) c.811A>C (p.Ile271Leu) c.922A>C (p.Ile308Leu) | |
12 | g.112477722A>G | CA177674 | PTPN11 | c.925A>G (p.Ile309Val) c.811A>G (p.Ile271Val) c.922A>G (p.Ile308Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477722A>T | CA386790836 | PTPN11 | c.925A>T (p.Ile309Phe) c.811A>T (p.Ile271Phe) c.922A>T (p.Ile308Phe) | |
12 | g.112477723T>A | CA386790838 | PTPN11 | c.926T>A (p.Ile309Asn) c.812T>A (p.Ile271Asn) c.923T>A (p.Ile308Asn) | |
12 | g.112477723T>C | CA386790840 | PTPN11 | c.926T>C (p.Ile309Thr) c.812T>C (p.Ile271Thr) c.923T>C (p.Ile308Thr) | |
12 | g.112477723T>G | CA386790843 | PTPN11 | c.926T>G (p.Ile309Ser) c.812T>G (p.Ile271Ser) c.923T>G (p.Ile308Ser) | |
12 | g.112477724C>A | CA481887731 | PTPN11 | c.927C>A (p.Ile309=) c.813C>A (p.Ile271=) c.924C>A (p.Ile308=) | |
12 | g.112477724C>G | CA386790848 | PTPN11 | c.927C>G (p.Ile309Met) c.813C>G (p.Ile271Met) c.924C>G (p.Ile308Met) | dbSNP |
12 | g.112477724C>T | CA481887736 | PTPN11 | c.927C>T (p.Ile309=) c.813C>T (p.Ile271=) c.924C>T (p.Ile308=) | dbSNP |
12 | g.112477725A>C | CA386790852 | PTPN11 | c.928A>C (p.Ile310Leu) c.814A>C (p.Ile272Leu) c.925A>C (p.Ile309Leu) | gnomAD v4 |
12 | g.112477725A>G | CA386790856 | PTPN11 | c.928A>G (p.Ile310Val) c.814A>G (p.Ile272Val) c.925A>G (p.Ile309Val) | |
12 | g.112477725A>T | CA386790859 | PTPN11 | c.928A>T (p.Ile310Phe) c.814A>T (p.Ile272Phe) c.925A>T (p.Ile309Phe) | |
12 | g.112477726T>A | CA386790864 | PTPN11 | c.929T>A (p.Ile310Asn) c.815T>A (p.Ile272Asn) c.926T>A (p.Ile309Asn) | |
12 | g.112477726T>C | CA386790866 | PTPN11 | c.929T>C (p.Ile310Thr) c.815T>C (p.Ile272Thr) c.926T>C (p.Ile309Thr) | |
12 | g.112477726T>G | CA386790868 | PTPN11 | c.929T>G (p.Ile310Ser) c.815T>G (p.Ile272Ser) c.926T>G (p.Ile309Ser) | |
12 | g.112477727C>A | CA481887738 | PTPN11 | c.930C>A (p.Ile310=) c.816C>A (p.Ile272=) c.927C>A (p.Ile309=) | |
12 | g.112477727C>G | CA386790872 | PTPN11 | c.930C>G (p.Ile310Met) c.816C>G (p.Ile272Met) c.927C>G (p.Ile309Met) | dbSNP |
12 | g.112477727C>T | CA481887739 | PTPN11 | c.930C>T (p.Ile310=) c.816C>T (p.Ile272=) c.927C>T (p.Ile309=) | dbSNP |
12 | g.112477728A= | CA2063775801 | PTPN11 | c.931A= (p.Met311=) c.817A= (p.Met273=) c.928A= (p.Met310=) | |
12 | g.112477728A>C | CA386790874 | PTPN11 | c.931A>C (p.Met311Leu) c.817A>C (p.Met273Leu) c.928A>C (p.Met310Leu) | |
12 | g.112477728A>G | CA6798676 | PTPN11 | c.931A>G (p.Met311Val) c.817A>G (p.Met273Val) c.928A>G (p.Met310Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477728A>T | CA386790875 | PTPN11 | c.931A>T (p.Met311Leu) c.817A>T (p.Met273Leu) c.928A>T (p.Met310Leu) | gnomAD v4 |
12 | g.112477729T>A | CA386790877 | PTPN11 | c.932T>A (p.Met311Lys) c.818T>A (p.Met273Lys) c.929T>A (p.Met310Lys) | dbSNP |
12 | g.112477729T>C | CA6798677 | PTPN11 | c.932T>C (p.Met311Thr) c.818T>C (p.Met273Thr) c.929T>C (p.Met310Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477729T>G | CA386790883 | PTPN11 | c.932T>G (p.Met311Arg) c.818T>G (p.Met273Arg) c.929T>G (p.Met310Arg) | |
12 | g.112477729T= | CA2063775805 | PTPN11 | c.932T= (p.Met311=) c.818T= (p.Met273=) c.929T= (p.Met310=) | |
12 | g.112477730G>A | CA386790886 | PTPN11 | c.933G>A (p.Met311Ile) c.819G>A (p.Met273Ile) c.930G>A (p.Met310Ile) | dbSNP |
12 | g.112477730G>C | CA386790888 | PTPN11 | c.933G>C (p.Met311Ile) c.819G>C (p.Met273Ile) c.930G>C (p.Met310Ile) | dbSNP |
12 | g.112477730G>T | CA386790889 | PTPN11 | c.933G>T (p.Met311Ile) c.819G>T (p.Met273Ile) c.930G>T (p.Met310Ile) | |
12 | g.112477731G>A | CA386790890 | PTPN11 | c.933+1G>A (n.933+1G>A) c.819+1G>A (n.819+1G>A) c.930+1G>A (n.930+1G>A) | dbSNP |
12 | g.112477731G>C | CA386790893 | PTPN11 | c.933+1G>C (n.933+1G>C) c.819+1G>C (n.819+1G>C) c.930+1G>C (n.930+1G>C) | dbSNP |
12 | g.112477731G>T | CA386790895 | PTPN11 | c.933+1G>T (n.933+1G>T) c.819+1G>T (n.819+1G>T) c.930+1G>T (n.930+1G>T) | |
12 | g.112477732T>A | CA386790899 | PTPN11 | c.933+2T>A (n.933+2T>A) c.819+2T>A (n.819+2T>A) c.930+2T>A (n.930+2T>A) | dbSNP |
12 | g.112477732T>C | CA386790903 | PTPN11 | c.933+2T>C (n.933+2T>C) c.819+2T>C (n.819+2T>C) c.930+2T>C (n.930+2T>C) | |
12 | g.112477732T>G | CA386790906 | PTPN11 | c.933+2T>G (n.933+2T>G) c.819+2T>G (n.819+2T>G) c.930+2T>G (n.930+2T>G) | |
12 | g.112477734A= | CA2063775808 | PTPN11 | c.933+4A= (n.933+4A=) c.819+4A= (n.819+4A=) c.930+4A= (n.930+4A=) | |
12 | g.112477734A>T | CA913190493 | PTPN11 | c.933+4A>T (n.933+4A>T) c.819+4A>T (n.819+4A>T) c.930+4A>T (n.930+4A>T) | ClinVar dbSNP |
12 | g.112477735G>A | CA2621024626 | PTPN11 | c.933+5G>A (n.933+5G>A) c.819+5G>A (n.819+5G>A) c.930+5G>A (n.930+5G>A) | gnomAD v4 |
12 | g.112477735G>C | CA2727224594 | PTPN11 | c.933+5G>C (n.933+5G>C) c.819+5G>C (n.819+5G>C) c.930+5G>C (n.930+5G>C) | dbSNP |
12 | g.112477736C>A | CA2727224628 | PTPN11 | c.933+6C>A (n.933+6C>A) c.819+6C>A (n.819+6C>A) c.930+6C>A (n.930+6C>A) | dbSNP |
12 | g.112477736C>G | CA2727224633 | PTPN11 | c.933+6C>G (n.933+6C>G) c.819+6C>G (n.819+6C>G) c.930+6C>G (n.930+6C>G) | dbSNP |
12 | g.112477736C>T | CA2727224634 | PTPN11 | c.933+6C>T (n.933+6C>T) c.819+6C>T (n.819+6C>T) c.930+6C>T (n.930+6C>T) | dbSNP |
12 | g.112477737T>A | CA2727224636 | PTPN11 | c.933+7T>A (n.933+7T>A) c.819+7T>A (n.819+7T>A) c.930+7T>A (n.930+7T>A) | dbSNP |
12 | g.112477737T>G | CA2575298959 | PTPN11 | c.933+7T>G (n.933+7T>G) c.819+7T>G (n.819+7T>G) c.930+7T>G (n.930+7T>G) | ClinVar |
12 | g.112477738T>C | CA2580085812 | PTPN11 | c.933+8T>C (n.933+8T>C) c.819+8T>C (n.819+8T>C) c.930+8T>C (n.930+8T>C) | ClinVar |
12 | g.112477739T>C | CA2621024627 | PTPN11 | c.933+9T>C (n.933+9T>C) c.819+9T>C (n.819+9T>C) c.930+9T>C (n.930+9T>C) | gnomAD v4 |
12 | g.112477739T>G | CA2063775813 | PTPN11 | c.933+9T>G (n.933+9T>G) c.819+9T>G (n.819+9T>G) c.930+9T>G (n.930+9T>G) | dbSNP |
12 | g.112477739T= | CA2063775811 | PTPN11 | c.933+9T= (n.933+9T=) c.819+9T= (n.819+9T=) c.930+9T= (n.930+9T=) | |
12 | g.112477740G>A | CA2727224660 | PTPN11 | c.933+10G>A (n.933+10G>A) c.819+10G>A (n.819+10G>A) c.930+10G>A (n.930+10G>A) | dbSNP |
12 | g.112477740G>C | CA2727224747 | PTPN11 | c.933+10G>C (n.933+10G>C) c.819+10G>C (n.819+10G>C) c.930+10G>C (n.930+10G>C) | dbSNP |
12 | g.112477741C>A | CA2727053171 | PTPN11 | c.933+11C>A (n.933+11C>A) c.819+11C>A (n.819+11C>A) c.930+11C>A (n.930+11C>A) | dbSNP |
12 | g.112477741C= | CA2063775815 | PTPN11 | c.933+11C= (n.933+11C=) c.819+11C= (n.819+11C=) c.930+11C= (n.930+11C=) | |
12 | g.112477741C>G | CA2727053172 | PTPN11 | c.933+11C>G (n.933+11C>G) c.819+11C>G (n.819+11C>G) c.930+11C>G (n.930+11C>G) | dbSNP |
12 | g.112477741C>T | CA282104 | PTPN11 | c.933+11C>T (n.933+11C>T) c.819+11C>T (n.819+11C>T) c.930+11C>T (n.930+11C>T) | ClinVar dbSNP |
12 | g.112477742T>A | CA2727224752 | PTPN11 | c.933+12T>A (n.933+12T>A) c.819+12T>A (n.819+12T>A) c.930+12T>A (n.930+12T>A) | dbSNP |
12 | g.112477745dup | CA2621024628 | PTPN11 | c.933+15dup (n.933+15dup) c.819+15dup (n.819+15dup) c.930+15dup (n.930+15dup) | gnomAD v4 |
12 | g.112477743T>A | CA2727224927 | PTPN11 | c.933+13T>A (n.933+13T>A) c.819+13T>A (n.819+13T>A) c.930+13T>A (n.930+13T>A) | dbSNP |
12 | g.112477744_112477750delinsTTCACAG | CA2063775817 | PTPN11 | c.933+14_933+20delinsTTCACAG (n.933+14_933+20delinsTTCACAG) c.819+14_819+20delinsTTCACAG (n.819+14_819+20delinsTTCACAG) c.930+14_930+20delinsTTCACAG (n.930+14_930+20delinsTTCACAG) | |
12 | g.112477746_112477751del | CA6798678 | PTPN11 | c.933+16_933+21del (n.933+16_933+21del) c.819+16_819+21del (n.819+16_819+21del) c.930+16_930+21del (n.930+16_930+21del) | dbSNP ExAC gnomAD v2 |
12 | g.112477747A>C | CA2727224958 | PTPN11 | c.933+17A>C (n.933+17A>C) c.819+17A>C (n.819+17A>C) c.930+17A>C (n.930+17A>C) | dbSNP |
12 | g.112477747A>T | CA2727224937 | PTPN11 | c.933+17A>T (n.933+17A>T) c.819+17A>T (n.819+17A>T) c.930+17A>T (n.930+17A>T) | dbSNP |
12 | g.112477748C>G | CA2727225052 | PTPN11 | c.933+18C>G (n.933+18C>G) c.819+18C>G (n.819+18C>G) c.930+18C>G (n.930+18C>G) | dbSNP |
12 | g.112477748C>T | CA2727225050 | PTPN11 | c.933+18C>T (n.933+18C>T) c.819+18C>T (n.819+18C>T) c.930+18C>T (n.930+18C>T) | dbSNP |
12 | g.112477749A= | CA2063775820 | PTPN11 | c.933+19A= (n.933+19A=) c.819+19A= (n.819+19A=) c.930+19A= (n.930+19A=) | |
12 | g.112477749A>C | CA2063775819 | PTPN11 | c.933+19A>C (n.933+19A>C) c.819+19A>C (n.819+19A>C) c.930+19A>C (n.930+19A>C) | dbSNP |
12 | g.112477750G>A | CA2727225061 | PTPN11 | c.933+20G>A (n.933+20G>A) c.819+20G>A (n.819+20G>A) c.930+20G>A (n.930+20G>A) | dbSNP |
12 | g.112477750G>C | CA2727225062 | PTPN11 | c.933+20G>C (n.933+20G>C) c.819+20G>C (n.819+20G>C) c.930+20G>C (n.930+20G>C) | dbSNP |
12 | g.112477751T>C | CA2727058503 | PTPN11 | c.933+21T>C (n.933+21T>C) c.819+21T>C (n.819+21T>C) c.930+21T>C (n.930+21T>C) | dbSNP |
12 | g.112477751T>G | CA6798679 | PTPN11 | c.933+21T>G (n.933+21T>G) c.819+21T>G (n.819+21T>G) c.930+21T>G (n.930+21T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477751T= | CA2063775823 | PTPN11 | c.933+21T= (n.933+21T=) c.819+21T= (n.819+21T=) c.930+21T= (n.930+21T=) | |
12 | g.112477752G>A | CA243711967 | PTPN11 | c.933+22G>A (n.933+22G>A) c.819+22G>A (n.819+22G>A) c.930+22G>A (n.930+22G>A) | dbSNP |
12 | g.112477752G>C | CA607604974 | PTPN11 | c.933+22G>C (n.933+22G>C) c.819+22G>C (n.819+22G>C) c.930+22G>C (n.930+22G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477752G= | CA2063775825 | PTPN11 | c.933+22G= (n.933+22G=) c.819+22G= (n.819+22G=) c.930+22G= (n.930+22G=) | |
12 | g.112477753T>A | CA2575298961 | PTPN11 | c.933+23T>A (n.933+23T>A) c.819+23T>A (n.819+23T>A) c.930+23T>A (n.930+23T>A) | |
12 | g.112477756dup | CA2621024629 | PTPN11 | c.933+26dup (n.933+26dup) c.819+26dup (n.819+26dup) c.930+26dup (n.930+26dup) | gnomAD v4 |
12 | g.112477755T>A | CA2727056255 | PTPN11 | c.933+25T>A (n.933+25T>A) c.819+25T>A (n.819+25T>A) c.930+25T>A (n.930+25T>A) | dbSNP |
12 | g.112477755T>C | CA273708 | PTPN11 | c.933+25T>C (n.933+25T>C) c.819+25T>C (n.819+25T>C) c.930+25T>C (n.930+25T>C) | ClinVar dbSNP |
12 | g.112477755T>G | CA2621024630 | PTPN11 | c.933+25T>G (n.933+25T>G) c.819+25T>G (n.819+25T>G) c.930+25T>G (n.930+25T>G) | gnomAD v4 |
12 | g.112477755T= | CA2063775829 | PTPN11 | c.933+25T= (n.933+25T=) c.819+25T= (n.819+25T=) c.930+25T= (n.930+25T=) | |
12 | g.112477756T>A | CA2063775832 | PTPN11 | c.933+26T>A (n.933+26T>A) c.819+26T>A (n.819+26T>A) c.930+26T>A (n.930+26T>A) | dbSNP |
12 | g.112477756T= | CA2063775831 | PTPN11 | c.933+26T= (n.933+26T=) c.819+26T= (n.819+26T=) c.930+26T= (n.930+26T=) | |
12 | g.112477757C>A | CA2727225118 | PTPN11 | c.933+27C>A (n.933+27C>A) c.819+27C>A (n.819+27C>A) c.930+27C>A (n.930+27C>A) | dbSNP |
12 | g.112477757C>G | CA2727225115 | PTPN11 | c.933+27C>G (n.933+27C>G) c.819+27C>G (n.819+27C>G) c.930+27C>G (n.930+27C>G) | dbSNP |
12 | g.112477758T>A | CA2621024631 | PTPN11 | c.933+28T>A (n.933+28T>A) c.819+28T>A (n.819+28T>A) c.930+28T>A (n.930+28T>A) | dbSNP gnomAD v4 |
12 | g.112477759G>A | CA2727225387 | PTPN11 | c.933+29G>A (n.933+29G>A) c.819+29G>A (n.819+29G>A) c.930+29G>A (n.930+29G>A) | dbSNP |
12 | g.112477759G>C | CA2727225385 | PTPN11 | c.933+29G>C (n.933+29G>C) c.819+29G>C (n.819+29G>C) c.930+29G>C (n.930+29G>C) | dbSNP |
12 | g.112477759G>T | CA2621024632 | PTPN11 | c.933+29G>T (n.933+29G>T) c.819+29G>T (n.819+29G>T) c.930+29G>T (n.930+29G>T) | gnomAD v4 |
12 | g.112477760A>C | CA2836183580 | PTPN11 | c.933+30A>C (n.933+30A>C) c.819+30A>C (n.819+30A>C) c.930+30A>C (n.930+30A>C) | |
12 | g.112477760A>G | CA2575298963 | PTPN11 | c.933+30A>G (n.933+30A>G) c.819+30A>G (n.819+30A>G) c.930+30A>G (n.930+30A>G) | |
12 | g.112477761C>A | CA2727174341 | PTPN11 | c.933+31C>A (n.933+31C>A) c.819+31C>A (n.819+31C>A) c.930+31C>A (n.930+31C>A) | dbSNP |
12 | g.112477761C= | CA2063775835 | PTPN11 | c.933+31C= (n.933+31C=) c.819+31C= (n.819+31C=) c.930+31C= (n.930+31C=) | |
12 | g.112477761C>G | CA2621024633 | PTPN11 | c.933+31C>G (n.933+31C>G) c.819+31C>G (n.819+31C>G) c.930+31C>G (n.930+31C>G) | dbSNP gnomAD v4 |
12 | g.112477761C>T | CA2063775834 | PTPN11 | c.933+31C>T (n.933+31C>T) c.819+31C>T (n.819+31C>T) c.930+31C>T (n.930+31C>T) | dbSNP gnomAD v4 |
12 | g.112477762C>A | CA2727225428 | PTPN11 | c.933+32C>A (n.933+32C>A) c.819+32C>A (n.819+32C>A) c.930+32C>A (n.930+32C>A) | dbSNP |
12 | g.112477762C>G | CA2727225429 | PTPN11 | c.933+32C>G (n.933+32C>G) c.819+32C>G (n.819+32C>G) c.930+32C>G (n.930+32C>G) | dbSNP |
12 | g.112477762C>T | CA2727225430 | PTPN11 | c.933+32C>T (n.933+32C>T) c.819+32C>T (n.819+32C>T) c.930+32C>T (n.930+32C>T) | dbSNP |
12 | g.112477763A= | CA2063775837 | PTPN11 | c.933+33A= (n.933+33A=) c.819+33A= (n.819+33A=) c.930+33A= (n.930+33A=) | |
12 | g.112477763A>C | CA6798680 | PTPN11 | c.933+33A>C (n.933+33A>C) c.819+33A>C (n.819+33A>C) c.930+33A>C (n.930+33A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477763A>G | CA243711970 | PTPN11 | c.933+33A>G (n.933+33A>G) c.819+33A>G (n.819+33A>G) c.930+33A>G (n.930+33A>G) | dbSNP gnomAD v4 |
12 | g.112477764T>C | CA6798681 | PTPN11 | c.933+34T>C (n.933+34T>C) c.819+34T>C (n.819+34T>C) c.930+34T>C (n.930+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477764T= | CA2063775842 | PTPN11 | c.933+34T= (n.933+34T=) c.819+34T= (n.819+34T=) c.930+34T= (n.930+34T=) | |
12 | g.112477765A= | CA2063775845 | PTPN11 | c.933+35A= (n.933+35A=) c.819+35A= (n.819+35A=) c.930+35A= (n.930+35A=) | |
12 | g.112477765A>T | CA243711972 | PTPN11 | c.933+35A>T (n.933+35A>T) c.819+35A>T (n.819+35A>T) c.930+35A>T (n.930+35A>T) | dbSNP |
12 | g.112477766C>A | CA2575298966 | PTPN11 | c.933+36C>A (n.933+36C>A) c.819+36C>A (n.819+36C>A) c.930+36C>A (n.930+36C>A) | dbSNP |
12 | g.112477766C= | CA2063775851 | PTPN11 | c.933+36C= (n.933+36C=) c.819+36C= (n.819+36C=) c.930+36C= (n.930+36C=) | |
12 | g.112477766C>G | CA2727174342 | PTPN11 | c.933+36C>G (n.933+36C>G) c.819+36C>G (n.819+36C>G) c.930+36C>G (n.930+36C>G) | dbSNP |
12 | g.112477766C>T | CA2063775850 | PTPN11 | c.933+36C>T (n.933+36C>T) c.819+36C>T (n.819+36C>T) c.930+36C>T (n.930+36C>T) | dbSNP gnomAD v4 |
12 | g.112477766_112477767delinsCA | CA2063775849 | PTPN11 | c.933+36_933+37delinsCA (n.933+36_933+37delinsCA) c.819+36_819+37delinsCA (n.819+36_819+37delinsCA) c.930+36_930+37delinsCA (n.930+36_930+37delinsCA) | |
12 | g.112477767del | CA919176247 | PTPN11 | c.933+37del (n.933+37del) c.819+37del (n.819+37del) c.930+37del (n.930+37del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477767A>G | CA2621024634 | PTPN11 | c.933+37A>G (n.933+37A>G) c.819+37A>G (n.819+37A>G) c.930+37A>G (n.930+37A>G) | gnomAD v4 |
12 | g.112477767A>T | CA2727225432 | PTPN11 | c.933+37A>T (n.933+37A>T) c.819+37A>T (n.819+37A>T) c.930+37A>T (n.930+37A>T) | dbSNP |
12 | g.112477769T>C | CA2516912324 | PTPN11 | c.933+39T>C (n.933+39T>C) c.819+39T>C (n.819+39T>C) c.930+39T>C (n.930+39T>C) | |
12 | g.112477771C>G | CA2727225506 | PTPN11 | c.933+41C>G (n.933+41C>G) c.819+41C>G (n.819+41C>G) c.930+41C>G (n.930+41C>G) | dbSNP |
12 | g.112477771C>T | CA2727225480 | PTPN11 | c.933+41C>T (n.933+41C>T) c.819+41C>T (n.819+41C>T) c.930+41C>T (n.930+41C>T) | dbSNP |
12 | g.112477772T>A | CA2727225509 | PTPN11 | c.933+42T>A (n.933+42T>A) c.819+42T>A (n.819+42T>A) c.930+42T>A (n.930+42T>A) | dbSNP |
12 | g.112477773A= | CA2063775854 | PTPN11 | c.933+43A= (n.933+43A=) c.819+43A= (n.819+43A=) c.930+43A= (n.930+43A=) | |
12 | g.112477773A>C | CA2575298967 | PTPN11 | c.933+43A>C (n.933+43A>C) c.819+43A>C (n.819+43A>C) c.930+43A>C (n.930+43A>C) | |
12 | g.112477773A>G | CA683695827 | PTPN11 | c.933+43A>G (n.933+43A>G) c.819+43A>G (n.819+43A>G) c.930+43A>G (n.930+43A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477773A>T | CA2727080374 | PTPN11 | c.933+43A>T (n.933+43A>T) c.819+43A>T (n.819+43A>T) c.930+43A>T (n.930+43A>T) | dbSNP |
12 | g.112477774G>A | CA2621024636 | PTPN11 | c.933+44G>A (n.933+44G>A) c.819+44G>A (n.819+44G>A) c.930+44G>A (n.930+44G>A) | gnomAD v4 |
12 | g.112477774G>C | CA2727225511 | PTPN11 | c.933+44G>C (n.933+44G>C) c.819+44G>C (n.819+44G>C) c.930+44G>C (n.930+44G>C) | dbSNP |
12 | g.112477774G>T | CA2621024635 | PTPN11 | c.933+44G>T (n.933+44G>T) c.819+44G>T (n.819+44G>T) c.930+44G>T (n.930+44G>T) | dbSNP gnomAD v4 |
12 | g.112477775C>A | CA2621024637 | PTPN11 | c.933+45C>A (n.933+45C>A) c.819+45C>A (n.819+45C>A) c.930+45C>A (n.930+45C>A) | dbSNP gnomAD v4 |
12 | g.112477775C>G | CA2727225608 | PTPN11 | c.933+45C>G (n.933+45C>G) c.819+45C>G (n.819+45C>G) c.930+45C>G (n.930+45C>G) | dbSNP |
12 | g.112477775C>T | CA2727225610 | PTPN11 | c.933+45C>T (n.933+45C>T) c.819+45C>T (n.819+45C>T) c.930+45C>T (n.930+45C>T) | dbSNP |
12 | g.112477776C= | CA2063775858 | PTPN11 | c.933+46C= (n.933+46C=) c.819+46C= (n.819+46C=) c.930+46C= (n.930+46C=) | |
12 | g.112477776C>G | CA6798682 | PTPN11 | c.933+46C>G (n.933+46C>G) c.819+46C>G (n.819+46C>G) c.930+46C>G (n.930+46C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477776C>T | CA2621024638 | PTPN11 | c.933+46C>T (n.933+46C>T) c.819+46C>T (n.819+46C>T) c.930+46C>T (n.930+46C>T) | gnomAD v4 |
12 | g.112477776_112477777delinsCT | CA2063775861 | PTPN11 | c.933+46_933+47delinsCT (n.933+46_933+47delinsCT) c.819+46_819+47delinsCT (n.819+46_819+47delinsCT) c.930+46_930+47delinsCT (n.930+46_930+47delinsCT) | |
12 | g.112477777del | CA243711975 | PTPN11 | c.933+47del (n.933+47del) c.819+47del (n.819+47del) c.930+47del (n.930+47del) | dbSNP gnomAD v4 |
12 | g.112477777T>A | CA2727225707 | PTPN11 | c.933+47T>A (n.933+47T>A) c.819+47T>A (n.819+47T>A) c.930+47T>A (n.930+47T>A) | dbSNP |
12 | g.112477778A>G | CA2575298969 | PTPN11 | c.933+48A>G (n.933+48A>G) c.819+48A>G (n.819+48A>G) c.930+48A>G (n.930+48A>G) | gnomAD v4 |
12 | g.112477778_112477779delinsAT | CA2063775863 | PTPN11 | c.933+48_933+49delinsAT (n.933+48_933+49delinsAT) c.819+48_819+49delinsAT (n.819+48_819+49delinsAT) c.930+48_930+49delinsAT (n.930+48_930+49delinsAT) | |
12 | g.112477779T>C | CA2621024639 | PTPN11 | c.933+49T>C (n.933+49T>C) c.819+49T>C (n.819+49T>C) c.930+49T>C (n.930+49T>C) | gnomAD v4 |
12 | g.112477783dup | CA683695830 | PTPN11 | c.933+53dup (n.933+53dup) c.819+53dup (n.819+53dup) c.930+53dup (n.930+53dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477783del | CA607604975 | PTPN11 | c.933+53del (n.933+53del) c.819+53del (n.819+53del) c.930+53del (n.930+53del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477784G>A | CA2727225785 | PTPN11 | c.933+54G>A (n.933+54G>A) c.819+54G>A (n.819+54G>A) c.930+54G>A (n.930+54G>A) | dbSNP |
12 | g.112477784G>C | CA2575298971 | PTPN11 | c.933+54G>C (n.933+54G>C) c.819+54G>C (n.819+54G>C) c.930+54G>C (n.930+54G>C) | dbSNP gnomAD v4 |
12 | g.112477784G>T | CA2621024640 | PTPN11 | c.933+54G>T (n.933+54G>T) c.819+54G>T (n.819+54G>T) c.930+54G>T (n.930+54G>T) | gnomAD v4 |
12 | g.112477785T>A | CA2727226047 | PTPN11 | c.933+55T>A (n.933+55T>A) c.819+55T>A (n.819+55T>A) c.930+55T>A (n.930+55T>A) | dbSNP |
12 | g.112477785T>C | CA2621024641 | PTPN11 | c.933+55T>C (n.933+55T>C) c.819+55T>C (n.819+55T>C) c.930+55T>C (n.930+55T>C) | gnomAD v4 |
12 | g.112477786A>G | CA2621024642 | PTPN11 | c.933+56A>G (n.933+56A>G) c.819+56A>G (n.819+56A>G) c.930+56A>G (n.930+56A>G) | gnomAD v4 |
12 | g.112477787T>A | CA2727226062 | PTPN11 | c.933+57T>A (n.933+57T>A) c.819+57T>A (n.819+57T>A) c.930+57T>A (n.930+57T>A) | dbSNP |
12 | g.112477788T>A | CA2727226077 | PTPN11 | c.933+58T>A (n.933+58T>A) c.819+58T>A (n.819+58T>A) c.930+58T>A (n.930+58T>A) | dbSNP |
12 | g.112477788T>G | CA2621024643 | PTPN11 | c.933+58T>G (n.933+58T>G) c.819+58T>G (n.819+58T>G) c.930+58T>G (n.930+58T>G) | gnomAD v4 |