Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.44951912G>A | CA402321729 | SETBP1 | c.2572G>A (p.Glu858Lys) c.2650G>A (p.Glu884Lys) c.2095G>A (p.Glu699Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.44951912G>C | CA402321730 | SETBP1 | c.2572G>C (p.Glu858Gln) c.2650G>C (p.Glu884Gln) c.2095G>C (p.Glu699Gln) | |
18 | g.44951912G= | CA2300140772 | SETBP1 | c.2572G= (p.Glu858=) c.2650G= (p.Glu884=) c.2095G= (p.Glu699=) | |
18 | g.44951912G>T | CA402321731 | SETBP1 | c.2572G>T (p.Glu858Ter) c.2650G>T (p.Glu884Ter) c.2095G>T (p.Glu699Ter) | |
18 | g.44951913A>C | CA402321734 | SETBP1 | c.2573A>C (p.Glu858Ala) c.2651A>C (p.Glu884Ala) c.2096A>C (p.Glu699Ala) | |
18 | g.44951913A>G | CA402321732 | SETBP1 | c.2573A>G (p.Glu858Gly) c.2651A>G (p.Glu884Gly) c.2096A>G (p.Glu699Gly) | |
18 | g.44951913A>T | CA402321733 | SETBP1 | c.2573A>T (p.Glu858Val) c.2651A>T (p.Glu884Val) c.2096A>T (p.Glu699Val) | |
18 | g.44951914G>A | CA503982096 | SETBP1 | c.2574G>A (p.Glu858=) c.2652G>A (p.Glu884=) c.2097G>A (p.Glu699=) | |
18 | g.44951914G>C | CA402321735 | SETBP1 | c.2574G>C (p.Glu858Asp) c.2652G>C (p.Glu884Asp) c.2097G>C (p.Glu699Asp) | |
18 | g.44951914G>T | CA402321736 | SETBP1 | c.2574G>T (p.Glu858Asp) c.2652G>T (p.Glu884Asp) c.2097G>T (p.Glu699Asp) | gnomAD v4 |
18 | g.44951915T>A | CA402321737 | SETBP1 | c.2575T>A (p.Ser859Thr) c.2653T>A (p.Ser885Thr) c.2098T>A (p.Ser700Thr) | |
18 | g.44951915T>C | CA402321738 | SETBP1 | c.2575T>C (p.Ser859Pro) c.2653T>C (p.Ser885Pro) c.2098T>C (p.Ser700Pro) | |
18 | g.44951915T>G | CA402321739 | SETBP1 | c.2575T>G (p.Ser859Ala) c.2653T>G (p.Ser885Ala) c.2098T>G (p.Ser700Ala) | |
18 | g.44951916C>A | CA402321740 | SETBP1 | c.2576C>A (p.Ser859Tyr) c.2654C>A (p.Ser885Tyr) c.2099C>A (p.Ser700Tyr) | |
18 | g.44951916C>G | CA402321742 | SETBP1 | c.2576C>G (p.Ser859Cys) c.2654C>G (p.Ser885Cys) c.2099C>G (p.Ser700Cys) | |
18 | g.44951916C>T | CA402321741 | SETBP1 | c.2576C>T (p.Ser859Phe) c.2654C>T (p.Ser885Phe) c.2099C>T (p.Ser700Phe) | |
18 | g.44951917C>A | CA503982100 | SETBP1 | c.2577C>A (p.Ser859=) c.2655C>A (p.Ser885=) c.2100C>A (p.Ser700=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44951917C= | CA2300140773 | SETBP1 | c.2577C= (p.Ser859=) c.2655C= (p.Ser885=) c.2100C= (p.Ser700=) | |
18 | g.44951917C>G | CA503982101 | SETBP1 | c.2577C>G (p.Ser859=) c.2655C>G (p.Ser885=) c.2100C>G (p.Ser700=) | |
18 | g.44951917C>T | CA503982102 | SETBP1 | c.2577C>T (p.Ser859=) c.2655C>T (p.Ser885=) c.2100C>T (p.Ser700=) | |
18 | g.44951918C>A | CA402321743 | SETBP1 | c.2578C>A (p.His860Asn) c.2656C>A (p.His886Asn) c.2101C>A (p.His701Asn) | |
18 | g.44951918C= | CA2300140774 | SETBP1 | c.2578C= (p.His860=) c.2656C= (p.His886=) c.2101C= (p.His701=) | |
18 | g.44951918C>G | CA402321744 | SETBP1 | c.2578C>G (p.His860Asp) c.2656C>G (p.His886Asp) c.2101C>G (p.His701Asp) | |
18 | g.44951918C>T | CA402321745 | SETBP1 | c.2578C>T (p.His860Tyr) c.2656C>T (p.His886Tyr) c.2101C>T (p.His701Tyr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44951919A>C | CA402321746 | SETBP1 | c.2579A>C (p.His860Pro) c.2657A>C (p.His886Pro) c.2102A>C (p.His701Pro) | |
18 | g.44951919A>G | CA402321747 | SETBP1 | c.2579A>G (p.His860Arg) c.2657A>G (p.His886Arg) c.2102A>G (p.His701Arg) | |
18 | g.44951919A>T | CA402321748 | SETBP1 | c.2579A>T (p.His860Leu) c.2657A>T (p.His886Leu) c.2102A>T (p.His701Leu) | |
18 | g.44951920C>A | CA402321749 | SETBP1 | c.2580C>A (p.His860Gln) c.2658C>A (p.His886Gln) c.2103C>A (p.His701Gln) | |
18 | g.44951920C>G | CA402321750 | SETBP1 | c.2580C>G (p.His860Gln) c.2658C>G (p.His886Gln) c.2103C>G (p.His701Gln) | |
18 | g.44951920C>T | CA503982107 | SETBP1 | c.2580C>T (p.His860=) c.2658C>T (p.His886=) c.2103C>T (p.His701=) | |
18 | g.44951921A>C | CA402321751 | SETBP1 | c.2581A>C (p.Ser861Arg) c.2659A>C (p.Ser887Arg) c.2104A>C (p.Ser702Arg) | |
18 | g.44951921A>G | CA402321752 | SETBP1 | c.2581A>G (p.Ser861Gly) c.2659A>G (p.Ser887Gly) c.2104A>G (p.Ser702Gly) | |
18 | g.44951921A>T | CA402321753 | SETBP1 | c.2581A>T (p.Ser861Cys) c.2659A>T (p.Ser887Cys) c.2104A>T (p.Ser702Cys) | |
18 | g.44951922G>A | CA402321755 | SETBP1 | c.2582G>A (p.Ser861Asn) c.2660G>A (p.Ser887Asn) c.2105G>A (p.Ser702Asn) | |
18 | g.44951922G>C | CA402321756 | SETBP1 | c.2582G>C (p.Ser861Thr) c.2660G>C (p.Ser887Thr) c.2105G>C (p.Ser702Thr) | |
18 | g.44951922G>T | CA402321754 | SETBP1 | c.2582G>T (p.Ser861Ile) c.2660G>T (p.Ser887Ile) c.2105G>T (p.Ser702Ile) | |
18 | g.44951923T>A | CA402321757 | SETBP1 | c.2583T>A (p.Ser861Arg) c.2661T>A (p.Ser887Arg) c.2106T>A (p.Ser702Arg) | |
18 | g.44951923T>C | CA503982109 | SETBP1 | c.2583T>C (p.Ser861=) c.2661T>C (p.Ser887=) c.2106T>C (p.Ser702=) | ClinVar dbSNP |
18 | g.44951923T>G | CA402321758 | SETBP1 | c.2583T>G (p.Ser861Arg) c.2661T>G (p.Ser887Arg) c.2106T>G (p.Ser702Arg) | |
18 | g.44951923T= | CA2300140775 | SETBP1 | c.2583T= (p.Ser861=) c.2661T= (p.Ser887=) c.2106T= (p.Ser702=) | |
18 | g.44951924G>A | CA402321759 | SETBP1 | c.2584G>A (p.Glu862Lys) c.2662G>A (p.Glu888Lys) c.2107G>A (p.Glu703Lys) | |
18 | g.44951924G>C | CA402321761 | SETBP1 | c.2584G>C (p.Glu862Gln) c.2662G>C (p.Glu888Gln) c.2107G>C (p.Glu703Gln) | |
18 | g.44951924G>T | CA402321760 | SETBP1 | c.2584G>T (p.Glu862Ter) c.2662G>T (p.Glu888Ter) c.2107G>T (p.Glu703Ter) | |
18 | g.44951925A>C | CA402321762 | SETBP1 | c.2585A>C (p.Glu862Ala) c.2663A>C (p.Glu888Ala) c.2108A>C (p.Glu703Ala) | COSMIC |
18 | g.44951925A>G | CA402321763 | SETBP1 | c.2585A>G (p.Glu862Gly) c.2663A>G (p.Glu888Gly) c.2108A>G (p.Glu703Gly) | |
18 | g.44951925A>T | CA402321764 | SETBP1 | c.2585A>T (p.Glu862Val) c.2663A>T (p.Glu888Val) c.2108A>T (p.Glu703Val) | |
18 | g.44951926G>A | CA8945763 | SETBP1 | c.2586G>A (p.Glu862=) c.2664G>A (p.Glu888=) c.2109G>A (p.Glu703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951926G>C | CA402321765 | SETBP1 | c.2586G>C (p.Glu862Asp) c.2664G>C (p.Glu888Asp) c.2109G>C (p.Glu703Asp) | |
18 | g.44951926G= | CA2300140776 | SETBP1 | c.2586G= (p.Glu862=) c.2664G= (p.Glu888=) c.2109G= (p.Glu703=) | |
18 | g.44951926G>T | CA402321766 | SETBP1 | c.2586G>T (p.Glu862Asp) c.2664G>T (p.Glu888Asp) c.2109G>T (p.Glu703Asp) |