Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53568708T>A | CA413163072 | HUWE1 | c.6688A>T (p.Ser2230Cys) c.6691A>T (p.Ser2231Cys) c.6664A>T (p.Ser2222Cys) c.6940A>T (p.Ser2314Cys) c.6937A>T (p.Ser2313Cys) n.7375A>T c.7072A>T (p.Ser2358Cys) c.7069A>T (p.Ser2357Cys) c.7051A>T (p.Ser2351Cys) c.6961A>T (p.Ser2321Cys) c.6823A>T (p.Ser2275Cys) | gnomAD v4 |
X | g.53568708T>C | CA413163075 | HUWE1 | c.6688A>G (p.Ser2230Gly) c.6691A>G (p.Ser2231Gly) c.6664A>G (p.Ser2222Gly) c.6940A>G (p.Ser2314Gly) c.6937A>G (p.Ser2313Gly) n.7375A>G c.7072A>G (p.Ser2358Gly) c.7069A>G (p.Ser2357Gly) c.7051A>G (p.Ser2351Gly) c.6961A>G (p.Ser2321Gly) c.6823A>G (p.Ser2275Gly) | |
X | g.53568708T>G | CA413163077 | HUWE1 | c.6688A>C (p.Ser2230Arg) c.6691A>C (p.Ser2231Arg) c.6664A>C (p.Ser2222Arg) c.6940A>C (p.Ser2314Arg) c.6937A>C (p.Ser2313Arg) n.7375A>C c.7072A>C (p.Ser2358Arg) c.7069A>C (p.Ser2357Arg) c.7051A>C (p.Ser2351Arg) c.6961A>C (p.Ser2321Arg) c.6823A>C (p.Ser2275Arg) | |
X | g.53568709G>A | CA516433621 | HUWE1 | c.6687C>T (p.His2229=) c.6690C>T (p.His2230=) c.6663C>T (p.His2221=) c.6939C>T (p.His2313=) c.6936C>T (p.His2312=) n.7374C>T c.7071C>T (p.His2357=) c.7068C>T (p.His2356=) c.7050C>T (p.His2350=) c.6960C>T (p.His2320=) c.6822C>T (p.His2274=) | gnomAD v4 |
X | g.53568709G>C | CA413163081 | HUWE1 | c.6687C>G (p.His2229Gln) c.6690C>G (p.His2230Gln) c.6663C>G (p.His2221Gln) c.6939C>G (p.His2313Gln) c.6936C>G (p.His2312Gln) n.7374C>G c.7071C>G (p.His2357Gln) c.7068C>G (p.His2356Gln) c.7050C>G (p.His2350Gln) c.6960C>G (p.His2320Gln) c.6822C>G (p.His2274Gln) | |
X | g.53568709G>T | CA413163080 | HUWE1 | c.6687C>A (p.His2229Gln) c.6690C>A (p.His2230Gln) c.6663C>A (p.His2221Gln) c.6939C>A (p.His2313Gln) c.6936C>A (p.His2312Gln) n.7374C>A c.7071C>A (p.His2357Gln) c.7068C>A (p.His2356Gln) c.7050C>A (p.His2350Gln) c.6960C>A (p.His2320Gln) c.6822C>A (p.His2274Gln) | |
X | g.53568710T>A | CA413163085 | HUWE1 | c.6686A>T (p.His2229Leu) c.6689A>T (p.His2230Leu) c.6662A>T (p.His2221Leu) c.6938A>T (p.His2313Leu) c.6935A>T (p.His2312Leu) n.7373A>T c.7070A>T (p.His2357Leu) c.7067A>T (p.His2356Leu) c.7049A>T (p.His2350Leu) c.6959A>T (p.His2320Leu) c.6821A>T (p.His2274Leu) | |
X | g.53568710T>C | CA413163088 | HUWE1 | c.6686A>G (p.His2229Arg) c.6689A>G (p.His2230Arg) c.6662A>G (p.His2221Arg) c.6938A>G (p.His2313Arg) c.6935A>G (p.His2312Arg) n.7373A>G c.7070A>G (p.His2357Arg) c.7067A>G (p.His2356Arg) c.7049A>G (p.His2350Arg) c.6959A>G (p.His2320Arg) c.6821A>G (p.His2274Arg) | |
X | g.53568710T>G | CA413163089 | HUWE1 | c.6686A>C (p.His2229Pro) c.6689A>C (p.His2230Pro) c.6662A>C (p.His2221Pro) c.6938A>C (p.His2313Pro) c.6935A>C (p.His2312Pro) n.7373A>C c.7070A>C (p.His2357Pro) c.7067A>C (p.His2356Pro) c.7049A>C (p.His2350Pro) c.6959A>C (p.His2320Pro) c.6821A>C (p.His2274Pro) | |
X | g.53568711G>A | CA413163091 | HUWE1 | c.6685C>T (p.His2229Tyr) c.6688C>T (p.His2230Tyr) c.6661C>T (p.His2221Tyr) c.6937C>T (p.His2313Tyr) c.6934C>T (p.His2312Tyr) n.7372C>T c.7069C>T (p.His2357Tyr) c.7066C>T (p.His2356Tyr) c.7048C>T (p.His2350Tyr) c.6958C>T (p.His2320Tyr) c.6820C>T (p.His2274Tyr) | |
X | g.53568711G>C | CA413163093 | HUWE1 | c.6685C>G (p.His2229Asp) c.6688C>G (p.His2230Asp) c.6661C>G (p.His2221Asp) c.6937C>G (p.His2313Asp) c.6934C>G (p.His2312Asp) n.7372C>G c.7069C>G (p.His2357Asp) c.7066C>G (p.His2356Asp) c.7048C>G (p.His2350Asp) c.6958C>G (p.His2320Asp) c.6820C>G (p.His2274Asp) | |
X | g.53568711G>T | CA413163095 | HUWE1 | c.6685C>A (p.His2229Asn) c.6688C>A (p.His2230Asn) c.6661C>A (p.His2221Asn) c.6937C>A (p.His2313Asn) c.6934C>A (p.His2312Asn) n.7372C>A c.7069C>A (p.His2357Asn) c.7066C>A (p.His2356Asn) c.7048C>A (p.His2350Asn) c.6958C>A (p.His2320Asn) c.6820C>A (p.His2274Asn) | gnomAD v4 |
X | g.53568712A>C | CA516433622 | HUWE1 | c.6684T>G (p.Pro2228=) c.6687T>G (p.Pro2229=) c.6660T>G (p.Pro2220=) c.6936T>G (p.Pro2312=) c.6933T>G (p.Pro2311=) n.7371T>G c.7068T>G (p.Pro2356=) c.7065T>G (p.Pro2355=) c.7047T>G (p.Pro2349=) c.6957T>G (p.Pro2319=) c.6819T>G (p.Pro2273=) | |
X | g.53568712A>G | CA516433623 | HUWE1 | c.6684T>C (p.Pro2228=) c.6687T>C (p.Pro2229=) c.6660T>C (p.Pro2220=) c.6936T>C (p.Pro2312=) c.6933T>C (p.Pro2311=) n.7371T>C c.7068T>C (p.Pro2356=) c.7065T>C (p.Pro2355=) c.7047T>C (p.Pro2349=) c.6957T>C (p.Pro2319=) c.6819T>C (p.Pro2273=) | |
X | g.53568712A>T | CA516433624 | HUWE1 | c.6684T>A (p.Pro2228=) c.6687T>A (p.Pro2229=) c.6660T>A (p.Pro2220=) c.6936T>A (p.Pro2312=) c.6933T>A (p.Pro2311=) n.7371T>A c.7068T>A (p.Pro2356=) c.7065T>A (p.Pro2355=) c.7047T>A (p.Pro2349=) c.6957T>A (p.Pro2319=) c.6819T>A (p.Pro2273=) | |
X | g.53568713G>A | CA413163099 | HUWE1 | c.6683C>T (p.Pro2228Leu) c.6686C>T (p.Pro2229Leu) c.6659C>T (p.Pro2220Leu) c.6935C>T (p.Pro2312Leu) c.6932C>T (p.Pro2311Leu) n.7370C>T c.7067C>T (p.Pro2356Leu) c.7064C>T (p.Pro2355Leu) c.7046C>T (p.Pro2349Leu) c.6956C>T (p.Pro2319Leu) c.6818C>T (p.Pro2273Leu) | |
X | g.53568713G>C | CA413163101 | HUWE1 | c.6683C>G (p.Pro2228Arg) c.6686C>G (p.Pro2229Arg) c.6659C>G (p.Pro2220Arg) c.6935C>G (p.Pro2312Arg) c.6932C>G (p.Pro2311Arg) n.7370C>G c.7067C>G (p.Pro2356Arg) c.7064C>G (p.Pro2355Arg) c.7046C>G (p.Pro2349Arg) c.6956C>G (p.Pro2319Arg) c.6818C>G (p.Pro2273Arg) | |
X | g.53568713G>T | CA413163105 | HUWE1 | c.6683C>A (p.Pro2228His) c.6686C>A (p.Pro2229His) c.6659C>A (p.Pro2220His) c.6935C>A (p.Pro2312His) c.6932C>A (p.Pro2311His) n.7370C>A c.7067C>A (p.Pro2356His) c.7064C>A (p.Pro2355His) c.7046C>A (p.Pro2349His) c.6956C>A (p.Pro2319His) c.6818C>A (p.Pro2273His) | gnomAD v4 |
X | g.53568714G>A | CA413163108 | HUWE1 | c.6682C>T (p.Pro2228Ser) c.6685C>T (p.Pro2229Ser) c.6658C>T (p.Pro2220Ser) c.6934C>T (p.Pro2312Ser) c.6931C>T (p.Pro2311Ser) n.7369C>T c.7066C>T (p.Pro2356Ser) c.7063C>T (p.Pro2355Ser) c.7045C>T (p.Pro2349Ser) c.6955C>T (p.Pro2319Ser) c.6817C>T (p.Pro2273Ser) | ClinVar |
X | g.53568714G>C | CA413163111 | HUWE1 | c.6682C>G (p.Pro2228Ala) c.6685C>G (p.Pro2229Ala) c.6658C>G (p.Pro2220Ala) c.6934C>G (p.Pro2312Ala) c.6931C>G (p.Pro2311Ala) n.7369C>G c.7066C>G (p.Pro2356Ala) c.7063C>G (p.Pro2355Ala) c.7045C>G (p.Pro2349Ala) c.6955C>G (p.Pro2319Ala) c.6817C>G (p.Pro2273Ala) | |
X | g.53568714G>T | CA413163113 | HUWE1 | c.6682C>A (p.Pro2228Thr) c.6685C>A (p.Pro2229Thr) c.6658C>A (p.Pro2220Thr) c.6934C>A (p.Pro2312Thr) c.6931C>A (p.Pro2311Thr) n.7369C>A c.7066C>A (p.Pro2356Thr) c.7063C>A (p.Pro2355Thr) c.7045C>A (p.Pro2349Thr) c.6955C>A (p.Pro2319Thr) c.6817C>A (p.Pro2273Thr) | |
X | g.53568715T>A | CA516433627 | HUWE1 | c.6681A>T (p.Val2227=) c.6684A>T (p.Val2228=) c.6657A>T (p.Val2219=) c.6933A>T (p.Val2311=) c.6930A>T (p.Val2310=) n.7368A>T c.7065A>T (p.Val2355=) c.7062A>T (p.Val2354=) c.7044A>T (p.Val2348=) c.6954A>T (p.Val2318=) c.6816A>T (p.Val2272=) | |
X | g.53568715T>C | CA516433626 | HUWE1 | c.6681A>G (p.Val2227=) c.6684A>G (p.Val2228=) c.6657A>G (p.Val2219=) c.6933A>G (p.Val2311=) c.6930A>G (p.Val2310=) n.7368A>G c.7065A>G (p.Val2355=) c.7062A>G (p.Val2354=) c.7044A>G (p.Val2348=) c.6954A>G (p.Val2318=) c.6816A>G (p.Val2272=) | |
X | g.53568715T>G | CA516433625 | HUWE1 | c.6681A>C (p.Val2227=) c.6684A>C (p.Val2228=) c.6657A>C (p.Val2219=) c.6933A>C (p.Val2311=) c.6930A>C (p.Val2310=) n.7368A>C c.7065A>C (p.Val2355=) c.7062A>C (p.Val2354=) c.7044A>C (p.Val2348=) c.6954A>C (p.Val2318=) c.6816A>C (p.Val2272=) | |
X | g.53568716A>C | CA413163117 | HUWE1 | c.6680T>G (p.Val2227Gly) c.6683T>G (p.Val2228Gly) c.6656T>G (p.Val2219Gly) c.6932T>G (p.Val2311Gly) c.6929T>G (p.Val2310Gly) n.7367T>G c.7064T>G (p.Val2355Gly) c.7061T>G (p.Val2354Gly) c.7043T>G (p.Val2348Gly) c.6953T>G (p.Val2318Gly) c.6815T>G (p.Val2272Gly) | |
X | g.53568716A>G | CA413163123 | HUWE1 | c.6680T>C (p.Val2227Ala) c.6683T>C (p.Val2228Ala) c.6656T>C (p.Val2219Ala) c.6932T>C (p.Val2311Ala) c.6929T>C (p.Val2310Ala) n.7367T>C c.7064T>C (p.Val2355Ala) c.7061T>C (p.Val2354Ala) c.7043T>C (p.Val2348Ala) c.6953T>C (p.Val2318Ala) c.6815T>C (p.Val2272Ala) | |
X | g.53568716A>T | CA413163115 | HUWE1 | c.6680T>A (p.Val2227Glu) c.6683T>A (p.Val2228Glu) c.6656T>A (p.Val2219Glu) c.6932T>A (p.Val2311Glu) c.6929T>A (p.Val2310Glu) n.7367T>A c.7064T>A (p.Val2355Glu) c.7061T>A (p.Val2354Glu) c.7043T>A (p.Val2348Glu) c.6953T>A (p.Val2318Glu) c.6815T>A (p.Val2272Glu) | |
X | g.53568717C>A | CA413163125 | HUWE1 | c.6679G>T (p.Val2227Leu) c.6682G>T (p.Val2228Leu) c.6655G>T (p.Val2219Leu) c.6931G>T (p.Val2311Leu) c.6928G>T (p.Val2310Leu) n.7366G>T c.7063G>T (p.Val2355Leu) c.7060G>T (p.Val2354Leu) c.7042G>T (p.Val2348Leu) c.6952G>T (p.Val2318Leu) c.6814G>T (p.Val2272Leu) | |
X | g.53568717C= | CA2429880748 | HUWE1 | c.6679G= (p.Val2227=) c.6682G= (p.Val2228=) c.6655G= (p.Val2219=) c.6931G= (p.Val2311=) c.6928G= (p.Val2310=) n.7366G= c.7063G= (p.Val2355=) c.7060G= (p.Val2354=) c.7042G= (p.Val2348=) c.6952G= (p.Val2318=) c.6814G= (p.Val2272=) | |
X | g.53568717C>G | CA413163126 | HUWE1 | c.6679G>C (p.Val2227Leu) c.6682G>C (p.Val2228Leu) c.6655G>C (p.Val2219Leu) c.6931G>C (p.Val2311Leu) c.6928G>C (p.Val2310Leu) n.7366G>C c.7063G>C (p.Val2355Leu) c.7060G>C (p.Val2354Leu) c.7042G>C (p.Val2348Leu) c.6952G>C (p.Val2318Leu) c.6814G>C (p.Val2272Leu) | |
X | g.53568717C>T | CA10422066 | HUWE1 | c.6679G>A (p.Val2227Ile) c.6682G>A (p.Val2228Ile) c.6655G>A (p.Val2219Ile) c.6931G>A (p.Val2311Ile) c.6928G>A (p.Val2310Ile) n.7366G>A c.7063G>A (p.Val2355Ile) c.7060G>A (p.Val2354Ile) c.7042G>A (p.Val2348Ile) c.6952G>A (p.Val2318Ile) c.6814G>A (p.Val2272Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53568718T>A | CA413163129 | HUWE1 | c.6678A>T (p.Arg2226Ser) c.6681A>T (p.Arg2227Ser) c.6654A>T (p.Arg2218Ser) c.6930A>T (p.Arg2310Ser) c.6927A>T (p.Arg2309Ser) n.7365A>T c.7062A>T (p.Arg2354Ser) c.7059A>T (p.Arg2353Ser) c.7041A>T (p.Arg2347Ser) c.6951A>T (p.Arg2317Ser) c.6813A>T (p.Arg2271Ser) | |
X | g.53568718T>C | CA516433628 | HUWE1 | c.6678A>G (p.Arg2226=) c.6681A>G (p.Arg2227=) c.6654A>G (p.Arg2218=) c.6930A>G (p.Arg2310=) c.6927A>G (p.Arg2309=) n.7365A>G c.7062A>G (p.Arg2354=) c.7059A>G (p.Arg2353=) c.7041A>G (p.Arg2347=) c.6951A>G (p.Arg2317=) c.6813A>G (p.Arg2271=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53568718T>G | CA413163132 | HUWE1 | c.6678A>C (p.Arg2226Ser) c.6681A>C (p.Arg2227Ser) c.6654A>C (p.Arg2218Ser) c.6930A>C (p.Arg2310Ser) c.6927A>C (p.Arg2309Ser) n.7365A>C c.7062A>C (p.Arg2354Ser) c.7059A>C (p.Arg2353Ser) c.7041A>C (p.Arg2347Ser) c.6951A>C (p.Arg2317Ser) c.6813A>C (p.Arg2271Ser) | |
X | g.53568718T= | CA2429880749 | HUWE1 | c.6678A= (p.Arg2226=) c.6681A= (p.Arg2227=) c.6654A= (p.Arg2218=) c.6930A= (p.Arg2310=) c.6927A= (p.Arg2309=) n.7365A= c.7062A= (p.Arg2354=) c.7059A= (p.Arg2353=) c.7041A= (p.Arg2347=) c.6951A= (p.Arg2317=) c.6813A= (p.Arg2271=) | |
X | g.53568719C>A | CA413163138 | HUWE1 | c.6677G>T (p.Arg2226Ile) c.6680G>T (p.Arg2227Ile) c.6653G>T (p.Arg2218Ile) c.6929G>T (p.Arg2310Ile) c.6926G>T (p.Arg2309Ile) n.7364G>T c.7061G>T (p.Arg2354Ile) c.7058G>T (p.Arg2353Ile) c.7040G>T (p.Arg2347Ile) c.6950G>T (p.Arg2317Ile) c.6812G>T (p.Arg2271Ile) | |
X | g.53568719C>G | CA413163134 | HUWE1 | c.6677G>C (p.Arg2226Thr) c.6680G>C (p.Arg2227Thr) c.6653G>C (p.Arg2218Thr) c.6929G>C (p.Arg2310Thr) c.6926G>C (p.Arg2309Thr) n.7364G>C c.7061G>C (p.Arg2354Thr) c.7058G>C (p.Arg2353Thr) c.7040G>C (p.Arg2347Thr) c.6950G>C (p.Arg2317Thr) c.6812G>C (p.Arg2271Thr) | |
X | g.53568719C>T | CA413163136 | HUWE1 | c.6677G>A (p.Arg2226Lys) c.6680G>A (p.Arg2227Lys) c.6653G>A (p.Arg2218Lys) c.6929G>A (p.Arg2310Lys) c.6926G>A (p.Arg2309Lys) n.7364G>A c.7061G>A (p.Arg2354Lys) c.7058G>A (p.Arg2353Lys) c.7040G>A (p.Arg2347Lys) c.6950G>A (p.Arg2317Lys) c.6812G>A (p.Arg2271Lys) | |
X | g.53568720T>A | CA413163140 | HUWE1 | c.6676A>T (p.Arg2226Ter) c.6679A>T (p.Arg2227Ter) c.6652A>T (p.Arg2218Ter) c.6928A>T (p.Arg2310Ter) c.6925A>T (p.Arg2309Ter) n.7363A>T c.7060A>T (p.Arg2354Ter) c.7057A>T (p.Arg2353Ter) c.7039A>T (p.Arg2347Ter) c.6949A>T (p.Arg2317Ter) c.6811A>T (p.Arg2271Ter) | |
X | g.53568720T>C | CA413163141 | HUWE1 | c.6676A>G (p.Arg2226Gly) c.6679A>G (p.Arg2227Gly) c.6652A>G (p.Arg2218Gly) c.6928A>G (p.Arg2310Gly) c.6925A>G (p.Arg2309Gly) n.7363A>G c.7060A>G (p.Arg2354Gly) c.7057A>G (p.Arg2353Gly) c.7039A>G (p.Arg2347Gly) c.6949A>G (p.Arg2317Gly) c.6811A>G (p.Arg2271Gly) | |
X | g.53568720T>G | CA516433629 | HUWE1 | c.6676A>C (p.Arg2226=) c.6679A>C (p.Arg2227=) c.6652A>C (p.Arg2218=) c.6928A>C (p.Arg2310=) c.6925A>C (p.Arg2309=) n.7363A>C c.7060A>C (p.Arg2354=) c.7057A>C (p.Arg2353=) c.7039A>C (p.Arg2347=) c.6949A>C (p.Arg2317=) c.6811A>C (p.Arg2271=) | |
X | g.53568721G>A | CA516433630 | HUWE1 | c.6675C>T (p.Ala2225=) c.6678C>T (p.Ala2226=) c.6651C>T (p.Ala2217=) c.6927C>T (p.Ala2309=) c.6924C>T (p.Ala2308=) n.7362C>T c.7059C>T (p.Ala2353=) c.7056C>T (p.Ala2352=) c.7038C>T (p.Ala2346=) c.6948C>T (p.Ala2316=) c.6810C>T (p.Ala2270=) | |
X | g.53568721G>C | CA516433632 | HUWE1 | c.6675C>G (p.Ala2225=) c.6678C>G (p.Ala2226=) c.6651C>G (p.Ala2217=) c.6927C>G (p.Ala2309=) c.6924C>G (p.Ala2308=) n.7362C>G c.7059C>G (p.Ala2353=) c.7056C>G (p.Ala2352=) c.7038C>G (p.Ala2346=) c.6948C>G (p.Ala2316=) c.6810C>G (p.Ala2270=) | |
X | g.53568721G>T | CA516433631 | HUWE1 | c.6675C>A (p.Ala2225=) c.6678C>A (p.Ala2226=) c.6651C>A (p.Ala2217=) c.6927C>A (p.Ala2309=) c.6924C>A (p.Ala2308=) n.7362C>A c.7059C>A (p.Ala2353=) c.7056C>A (p.Ala2352=) c.7038C>A (p.Ala2346=) c.6948C>A (p.Ala2316=) c.6810C>A (p.Ala2270=) | |
X | g.53568722G>A | CA413163144 | HUWE1 | c.6674C>T (p.Ala2225Val) c.6677C>T (p.Ala2226Val) c.6650C>T (p.Ala2217Val) c.6926C>T (p.Ala2309Val) c.6923C>T (p.Ala2308Val) n.7361C>T c.7058C>T (p.Ala2353Val) c.7055C>T (p.Ala2352Val) c.7037C>T (p.Ala2346Val) c.6947C>T (p.Ala2316Val) c.6809C>T (p.Ala2270Val) | |
X | g.53568722G>C | CA413163146 | HUWE1 | c.6674C>G (p.Ala2225Gly) c.6677C>G (p.Ala2226Gly) c.6650C>G (p.Ala2217Gly) c.6926C>G (p.Ala2309Gly) c.6923C>G (p.Ala2308Gly) n.7361C>G c.7058C>G (p.Ala2353Gly) c.7055C>G (p.Ala2352Gly) c.7037C>G (p.Ala2346Gly) c.6947C>G (p.Ala2316Gly) c.6809C>G (p.Ala2270Gly) | |
X | g.53568722G>T | CA413163149 | HUWE1 | c.6674C>A (p.Ala2225Asp) c.6677C>A (p.Ala2226Asp) c.6650C>A (p.Ala2217Asp) c.6926C>A (p.Ala2309Asp) c.6923C>A (p.Ala2308Asp) n.7361C>A c.7058C>A (p.Ala2353Asp) c.7055C>A (p.Ala2352Asp) c.7037C>A (p.Ala2346Asp) c.6947C>A (p.Ala2316Asp) c.6809C>A (p.Ala2270Asp) | |
X | g.53568723C>A | CA413163152 | HUWE1 | c.6673G>T (p.Ala2225Ser) c.6676G>T (p.Ala2226Ser) c.6649G>T (p.Ala2217Ser) c.6925G>T (p.Ala2309Ser) c.6922G>T (p.Ala2308Ser) n.7360G>T c.7057G>T (p.Ala2353Ser) c.7054G>T (p.Ala2352Ser) c.7036G>T (p.Ala2346Ser) c.6946G>T (p.Ala2316Ser) c.6808G>T (p.Ala2270Ser) | |
X | g.53568723C>G | CA413163157 | HUWE1 | c.6673G>C (p.Ala2225Pro) c.6676G>C (p.Ala2226Pro) c.6649G>C (p.Ala2217Pro) c.6925G>C (p.Ala2309Pro) c.6922G>C (p.Ala2308Pro) n.7360G>C c.7057G>C (p.Ala2353Pro) c.7054G>C (p.Ala2352Pro) c.7036G>C (p.Ala2346Pro) c.6946G>C (p.Ala2316Pro) c.6808G>C (p.Ala2270Pro) | |
X | g.53568723C>T | CA413163155 | HUWE1 | c.6673G>A (p.Ala2225Thr) c.6676G>A (p.Ala2226Thr) c.6649G>A (p.Ala2217Thr) c.6925G>A (p.Ala2309Thr) c.6922G>A (p.Ala2308Thr) n.7360G>A c.7057G>A (p.Ala2353Thr) c.7054G>A (p.Ala2352Thr) c.7036G>A (p.Ala2346Thr) c.6946G>A (p.Ala2316Thr) c.6808G>A (p.Ala2270Thr) | |
X | g.53568724C>A | CA516433633 | HUWE1 | c.6672G>T (p.Leu2224=) c.6675G>T (p.Leu2225=) c.6648G>T (p.Leu2216=) c.6924G>T (p.Leu2308=) c.6921G>T (p.Leu2307=) n.7359G>T c.7056G>T (p.Leu2352=) c.7053G>T (p.Leu2351=) c.7035G>T (p.Leu2345=) c.6945G>T (p.Leu2315=) c.6807G>T (p.Leu2269=) | |
X | g.53568724C>G | CA516433634 | HUWE1 | c.6672G>C (p.Leu2224=) c.6675G>C (p.Leu2225=) c.6648G>C (p.Leu2216=) c.6924G>C (p.Leu2308=) c.6921G>C (p.Leu2307=) n.7359G>C c.7056G>C (p.Leu2352=) c.7053G>C (p.Leu2351=) c.7035G>C (p.Leu2345=) c.6945G>C (p.Leu2315=) c.6807G>C (p.Leu2269=) | |
X | g.53568724C>T | CA516433635 | HUWE1 | c.6672G>A (p.Leu2224=) c.6675G>A (p.Leu2225=) c.6648G>A (p.Leu2216=) c.6924G>A (p.Leu2308=) c.6921G>A (p.Leu2307=) n.7359G>A c.7056G>A (p.Leu2352=) c.7053G>A (p.Leu2351=) c.7035G>A (p.Leu2345=) c.6945G>A (p.Leu2315=) c.6807G>A (p.Leu2269=) | |
X | g.53568725A>C | CA413163160 | HUWE1 | c.6671T>G (p.Leu2224Arg) c.6674T>G (p.Leu2225Arg) c.6647T>G (p.Leu2216Arg) c.6923T>G (p.Leu2308Arg) c.6920T>G (p.Leu2307Arg) n.7358T>G c.7055T>G (p.Leu2352Arg) c.7052T>G (p.Leu2351Arg) c.7034T>G (p.Leu2345Arg) c.6944T>G (p.Leu2315Arg) c.6806T>G (p.Leu2269Arg) | |
X | g.53568725A>G | CA413163165 | HUWE1 | c.6671T>C (p.Leu2224Pro) c.6674T>C (p.Leu2225Pro) c.6647T>C (p.Leu2216Pro) c.6923T>C (p.Leu2308Pro) c.6920T>C (p.Leu2307Pro) n.7358T>C c.7055T>C (p.Leu2352Pro) c.7052T>C (p.Leu2351Pro) c.7034T>C (p.Leu2345Pro) c.6944T>C (p.Leu2315Pro) c.6806T>C (p.Leu2269Pro) | |
X | g.53568725A>T | CA413163162 | HUWE1 | c.6671T>A (p.Leu2224Gln) c.6674T>A (p.Leu2225Gln) c.6647T>A (p.Leu2216Gln) c.6923T>A (p.Leu2308Gln) c.6920T>A (p.Leu2307Gln) n.7358T>A c.7055T>A (p.Leu2352Gln) c.7052T>A (p.Leu2351Gln) c.7034T>A (p.Leu2345Gln) c.6944T>A (p.Leu2315Gln) c.6806T>A (p.Leu2269Gln) | |
X | g.53568726G>A | CA516433636 | HUWE1 | c.6670C>T (p.Leu2224=) c.6673C>T (p.Leu2225=) c.6646C>T (p.Leu2216=) c.6922C>T (p.Leu2308=) c.6919C>T (p.Leu2307=) n.7357C>T c.7054C>T (p.Leu2352=) c.7051C>T (p.Leu2351=) c.7033C>T (p.Leu2345=) c.6943C>T (p.Leu2315=) c.6805C>T (p.Leu2269=) | dbSNP gnomAD v4 |
X | g.53568726G>C | CA413163168 | HUWE1 | c.6670C>G (p.Leu2224Val) c.6673C>G (p.Leu2225Val) c.6646C>G (p.Leu2216Val) c.6922C>G (p.Leu2308Val) c.6919C>G (p.Leu2307Val) n.7357C>G c.7054C>G (p.Leu2352Val) c.7051C>G (p.Leu2351Val) c.7033C>G (p.Leu2345Val) c.6943C>G (p.Leu2315Val) c.6805C>G (p.Leu2269Val) | |
X | g.53568726G>T | CA413163171 | HUWE1 | c.6670C>A (p.Leu2224Met) c.6673C>A (p.Leu2225Met) c.6646C>A (p.Leu2216Met) c.6922C>A (p.Leu2308Met) c.6919C>A (p.Leu2307Met) n.7357C>A c.7054C>A (p.Leu2352Met) c.7051C>A (p.Leu2351Met) c.7033C>A (p.Leu2345Met) c.6943C>A (p.Leu2315Met) c.6805C>A (p.Leu2269Met) | |
X | g.53568727G>A | CA516433637 | HUWE1 | c.6669C>T (p.Asp2223=) c.6672C>T (p.Asp2224=) c.6645C>T (p.Asp2215=) c.6921C>T (p.Asp2307=) c.6918C>T (p.Asp2306=) n.7356C>T c.7053C>T (p.Asp2351=) c.7050C>T (p.Asp2350=) c.7032C>T (p.Asp2344=) c.6942C>T (p.Asp2314=) c.6804C>T (p.Asp2268=) | |
X | g.53568727G>C | CA413163173 | HUWE1 | c.6669C>G (p.Asp2223Glu) c.6672C>G (p.Asp2224Glu) c.6645C>G (p.Asp2215Glu) c.6921C>G (p.Asp2307Glu) c.6918C>G (p.Asp2306Glu) n.7356C>G c.7053C>G (p.Asp2351Glu) c.7050C>G (p.Asp2350Glu) c.7032C>G (p.Asp2344Glu) c.6942C>G (p.Asp2314Glu) c.6804C>G (p.Asp2268Glu) | |
X | g.53568727G>T | CA413163176 | HUWE1 | c.6669C>A (p.Asp2223Glu) c.6672C>A (p.Asp2224Glu) c.6645C>A (p.Asp2215Glu) c.6921C>A (p.Asp2307Glu) c.6918C>A (p.Asp2306Glu) n.7356C>A c.7053C>A (p.Asp2351Glu) c.7050C>A (p.Asp2350Glu) c.7032C>A (p.Asp2344Glu) c.6942C>A (p.Asp2314Glu) c.6804C>A (p.Asp2268Glu) | |
X | g.53568728T>A | CA413163178 | HUWE1 | c.6668A>T (p.Asp2223Val) c.6671A>T (p.Asp2224Val) c.6644A>T (p.Asp2215Val) c.6920A>T (p.Asp2307Val) c.6917A>T (p.Asp2306Val) n.7355A>T c.7052A>T (p.Asp2351Val) c.7049A>T (p.Asp2350Val) c.7031A>T (p.Asp2344Val) c.6941A>T (p.Asp2314Val) c.6803A>T (p.Asp2268Val) | |
X | g.53568728T>C | CA413163179 | HUWE1 | c.6668A>G (p.Asp2223Gly) c.6671A>G (p.Asp2224Gly) c.6644A>G (p.Asp2215Gly) c.6920A>G (p.Asp2307Gly) c.6917A>G (p.Asp2306Gly) n.7355A>G c.7052A>G (p.Asp2351Gly) c.7049A>G (p.Asp2350Gly) c.7031A>G (p.Asp2344Gly) c.6941A>G (p.Asp2314Gly) c.6803A>G (p.Asp2268Gly) | |
X | g.53568728T>G | CA413163182 | HUWE1 | c.6668A>C (p.Asp2223Ala) c.6671A>C (p.Asp2224Ala) c.6644A>C (p.Asp2215Ala) c.6920A>C (p.Asp2307Ala) c.6917A>C (p.Asp2306Ala) n.7355A>C c.7052A>C (p.Asp2351Ala) c.7049A>C (p.Asp2350Ala) c.7031A>C (p.Asp2344Ala) c.6941A>C (p.Asp2314Ala) c.6803A>C (p.Asp2268Ala) | |
X | g.53568729C>A | CA413163186 | HUWE1 | c.6667G>T (p.Asp2223Tyr) c.6670G>T (p.Asp2224Tyr) c.6643G>T (p.Asp2215Tyr) c.6919G>T (p.Asp2307Tyr) c.6916G>T (p.Asp2306Tyr) n.7354G>T c.7051G>T (p.Asp2351Tyr) c.7048G>T (p.Asp2350Tyr) c.7030G>T (p.Asp2344Tyr) c.6940G>T (p.Asp2314Tyr) c.6802G>T (p.Asp2268Tyr) | |
X | g.53568729C>G | CA413163187 | HUWE1 | c.6667G>C (p.Asp2223His) c.6670G>C (p.Asp2224His) c.6643G>C (p.Asp2215His) c.6919G>C (p.Asp2307His) c.6916G>C (p.Asp2306His) n.7354G>C c.7051G>C (p.Asp2351His) c.7048G>C (p.Asp2350His) c.7030G>C (p.Asp2344His) c.6940G>C (p.Asp2314His) c.6802G>C (p.Asp2268His) | |
X | g.53568729C>T | CA413163190 | HUWE1 | c.6667G>A (p.Asp2223Asn) c.6670G>A (p.Asp2224Asn) c.6643G>A (p.Asp2215Asn) c.6919G>A (p.Asp2307Asn) c.6916G>A (p.Asp2306Asn) n.7354G>A c.7051G>A (p.Asp2351Asn) c.7048G>A (p.Asp2350Asn) c.7030G>A (p.Asp2344Asn) c.6940G>A (p.Asp2314Asn) c.6802G>A (p.Asp2268Asn) | |
X | g.53568730A>C | CA413163196 | HUWE1 | c.6666T>G (p.Asn2222Lys) c.6669T>G (p.Asn2223Lys) c.6642T>G (p.Asn2214Lys) c.6918T>G (p.Asn2306Lys) c.6915T>G (p.Asn2305Lys) n.7353T>G c.7050T>G (p.Asn2350Lys) c.7047T>G (p.Asn2349Lys) c.7029T>G (p.Asn2343Lys) c.6939T>G (p.Asn2313Lys) c.6801T>G (p.Asn2267Lys) | |
X | g.53568730A>G | CA516433638 | HUWE1 | c.6666T>C (p.Asn2222=) c.6669T>C (p.Asn2223=) c.6642T>C (p.Asn2214=) c.6918T>C (p.Asn2306=) c.6915T>C (p.Asn2305=) n.7353T>C c.7050T>C (p.Asn2350=) c.7047T>C (p.Asn2349=) c.7029T>C (p.Asn2343=) c.6939T>C (p.Asn2313=) c.6801T>C (p.Asn2267=) | |
X | g.53568730A>T | CA413163193 | HUWE1 | c.6666T>A (p.Asn2222Lys) c.6669T>A (p.Asn2223Lys) c.6642T>A (p.Asn2214Lys) c.6918T>A (p.Asn2306Lys) c.6915T>A (p.Asn2305Lys) n.7353T>A c.7050T>A (p.Asn2350Lys) c.7047T>A (p.Asn2349Lys) c.7029T>A (p.Asn2343Lys) c.6939T>A (p.Asn2313Lys) c.6801T>A (p.Asn2267Lys) | |
X | g.53568731T>A | CA413163199 | HUWE1 | c.6665A>T (p.Asn2222Ile) c.6668A>T (p.Asn2223Ile) c.6641A>T (p.Asn2214Ile) c.6917A>T (p.Asn2306Ile) c.6914A>T (p.Asn2305Ile) n.7352A>T c.7049A>T (p.Asn2350Ile) c.7046A>T (p.Asn2349Ile) c.7028A>T (p.Asn2343Ile) c.6938A>T (p.Asn2313Ile) c.6800A>T (p.Asn2267Ile) | |
X | g.53568731T>C | CA413163201 | HUWE1 | c.6665A>G (p.Asn2222Ser) c.6668A>G (p.Asn2223Ser) c.6641A>G (p.Asn2214Ser) c.6917A>G (p.Asn2306Ser) c.6914A>G (p.Asn2305Ser) n.7352A>G c.7049A>G (p.Asn2350Ser) c.7046A>G (p.Asn2349Ser) c.7028A>G (p.Asn2343Ser) c.6938A>G (p.Asn2313Ser) c.6800A>G (p.Asn2267Ser) | |
X | g.53568731T>G | CA413163204 | HUWE1 | c.6665A>C (p.Asn2222Thr) c.6668A>C (p.Asn2223Thr) c.6641A>C (p.Asn2214Thr) c.6917A>C (p.Asn2306Thr) c.6914A>C (p.Asn2305Thr) n.7352A>C c.7049A>C (p.Asn2350Thr) c.7046A>C (p.Asn2349Thr) c.7028A>C (p.Asn2343Thr) c.6938A>C (p.Asn2313Thr) c.6800A>C (p.Asn2267Thr) | |
X | g.53568732T>A | CA413163208 | HUWE1 | c.6664A>T (p.Asn2222Tyr) c.6667A>T (p.Asn2223Tyr) c.6640A>T (p.Asn2214Tyr) c.6916A>T (p.Asn2306Tyr) c.6913A>T (p.Asn2305Tyr) n.7351A>T c.7048A>T (p.Asn2350Tyr) c.7045A>T (p.Asn2349Tyr) c.7027A>T (p.Asn2343Tyr) c.6937A>T (p.Asn2313Tyr) c.6799A>T (p.Asn2267Tyr) | |
X | g.53568732T>C | CA413163211 | HUWE1 | c.6664A>G (p.Asn2222Asp) c.6667A>G (p.Asn2223Asp) c.6640A>G (p.Asn2214Asp) c.6916A>G (p.Asn2306Asp) c.6913A>G (p.Asn2305Asp) n.7351A>G c.7048A>G (p.Asn2350Asp) c.7045A>G (p.Asn2349Asp) c.7027A>G (p.Asn2343Asp) c.6937A>G (p.Asn2313Asp) c.6799A>G (p.Asn2267Asp) | |
X | g.53568732T>G | CA413163213 | HUWE1 | c.6664A>C (p.Asn2222His) c.6667A>C (p.Asn2223His) c.6640A>C (p.Asn2214His) c.6916A>C (p.Asn2306His) c.6913A>C (p.Asn2305His) n.7351A>C c.7048A>C (p.Asn2350His) c.7045A>C (p.Asn2349His) c.7027A>C (p.Asn2343His) c.6937A>C (p.Asn2313His) c.6799A>C (p.Asn2267His) | |
X | g.53568733A>C | CA516433639 | HUWE1 | c.6663T>G (p.Val2221=) c.6666T>G (p.Val2222=) c.6639T>G (p.Val2213=) c.6915T>G (p.Val2305=) c.6912T>G (p.Val2304=) n.7350T>G c.7047T>G (p.Val2349=) c.7044T>G (p.Val2348=) c.7026T>G (p.Val2342=) c.6936T>G (p.Val2312=) c.6798T>G (p.Val2266=) | |
X | g.53568733A>G | CA516433640 | HUWE1 | c.6663T>C (p.Val2221=) c.6666T>C (p.Val2222=) c.6639T>C (p.Val2213=) c.6915T>C (p.Val2305=) c.6912T>C (p.Val2304=) n.7350T>C c.7047T>C (p.Val2349=) c.7044T>C (p.Val2348=) c.7026T>C (p.Val2342=) c.6936T>C (p.Val2312=) c.6798T>C (p.Val2266=) | |
X | g.53568733A>T | CA516433641 | HUWE1 | c.6663T>A (p.Val2221=) c.6666T>A (p.Val2222=) c.6639T>A (p.Val2213=) c.6915T>A (p.Val2305=) c.6912T>A (p.Val2304=) n.7350T>A c.7047T>A (p.Val2349=) c.7044T>A (p.Val2348=) c.7026T>A (p.Val2342=) c.6936T>A (p.Val2312=) c.6798T>A (p.Val2266=) | |
X | g.53568734A>C | CA413163215 | HUWE1 | c.6662T>G (p.Val2221Gly) c.6665T>G (p.Val2222Gly) c.6638T>G (p.Val2213Gly) c.6914T>G (p.Val2305Gly) c.6911T>G (p.Val2304Gly) n.7349T>G c.7046T>G (p.Val2349Gly) c.7043T>G (p.Val2348Gly) c.7025T>G (p.Val2342Gly) c.6935T>G (p.Val2312Gly) c.6797T>G (p.Val2266Gly) | |
X | g.53568734A>G | CA413163220 | HUWE1 | c.6662T>C (p.Val2221Ala) c.6665T>C (p.Val2222Ala) c.6638T>C (p.Val2213Ala) c.6914T>C (p.Val2305Ala) c.6911T>C (p.Val2304Ala) n.7349T>C c.7046T>C (p.Val2349Ala) c.7043T>C (p.Val2348Ala) c.7025T>C (p.Val2342Ala) c.6935T>C (p.Val2312Ala) c.6797T>C (p.Val2266Ala) | |
X | g.53568734A>T | CA413163218 | HUWE1 | c.6662T>A (p.Val2221Asp) c.6665T>A (p.Val2222Asp) c.6638T>A (p.Val2213Asp) c.6914T>A (p.Val2305Asp) c.6911T>A (p.Val2304Asp) n.7349T>A c.7046T>A (p.Val2349Asp) c.7043T>A (p.Val2348Asp) c.7025T>A (p.Val2342Asp) c.6935T>A (p.Val2312Asp) c.6797T>A (p.Val2266Asp) | |
X | g.53568735C>A | CA16609195 | HUWE1 | c.6661G>T (p.Val2221Phe) c.6664G>T (p.Val2222Phe) c.6637G>T (p.Val2213Phe) c.6913G>T (p.Val2305Phe) c.6910G>T (p.Val2304Phe) n.7348G>T c.7045G>T (p.Val2349Phe) c.7042G>T (p.Val2348Phe) c.7024G>T (p.Val2342Phe) c.6934G>T (p.Val2312Phe) c.6796G>T (p.Val2266Phe) | ClinVar dbSNP |
X | g.53568735C= | CA2429880750 | HUWE1 | c.6661G= (p.Val2221=) c.6664G= (p.Val2222=) c.6637G= (p.Val2213=) c.6913G= (p.Val2305=) c.6910G= (p.Val2304=) n.7348G= c.7045G= (p.Val2349=) c.7042G= (p.Val2348=) c.7024G= (p.Val2342=) c.6934G= (p.Val2312=) c.6796G= (p.Val2266=) | |
X | g.53568735C>G | CA413163223 | HUWE1 | c.6661G>C (p.Val2221Leu) c.6664G>C (p.Val2222Leu) c.6637G>C (p.Val2213Leu) c.6913G>C (p.Val2305Leu) c.6910G>C (p.Val2304Leu) n.7348G>C c.7045G>C (p.Val2349Leu) c.7042G>C (p.Val2348Leu) c.7024G>C (p.Val2342Leu) c.6934G>C (p.Val2312Leu) c.6796G>C (p.Val2266Leu) | |
X | g.53568735C>T | CA413163225 | HUWE1 | c.6661G>A (p.Val2221Ile) c.6664G>A (p.Val2222Ile) c.6637G>A (p.Val2213Ile) c.6913G>A (p.Val2305Ile) c.6910G>A (p.Val2304Ile) n.7348G>A c.7045G>A (p.Val2349Ile) c.7042G>A (p.Val2348Ile) c.7024G>A (p.Val2342Ile) c.6934G>A (p.Val2312Ile) c.6796G>A (p.Val2266Ile) | |
X | g.53568736C>A | CA516433642 | HUWE1 | c.6660G>T (p.Leu2220=) c.6663G>T (p.Leu2221=) c.6636G>T (p.Leu2212=) c.6912G>T (p.Leu2304=) c.6909G>T (p.Leu2303=) n.7347G>T c.7044G>T (p.Leu2348=) c.7041G>T (p.Leu2347=) c.7023G>T (p.Leu2341=) c.6933G>T (p.Leu2311=) c.6795G>T (p.Leu2265=) | |
X | g.53568736C>G | CA516433643 | HUWE1 | c.6660G>C (p.Leu2220=) c.6663G>C (p.Leu2221=) c.6636G>C (p.Leu2212=) c.6912G>C (p.Leu2304=) c.6909G>C (p.Leu2303=) n.7347G>C c.7044G>C (p.Leu2348=) c.7041G>C (p.Leu2347=) c.7023G>C (p.Leu2341=) c.6933G>C (p.Leu2311=) c.6795G>C (p.Leu2265=) | |
X | g.53568736C>T | CA516433644 | HUWE1 | c.6660G>A (p.Leu2220=) c.6663G>A (p.Leu2221=) c.6636G>A (p.Leu2212=) c.6912G>A (p.Leu2304=) c.6909G>A (p.Leu2303=) n.7347G>A c.7044G>A (p.Leu2348=) c.7041G>A (p.Leu2347=) c.7023G>A (p.Leu2341=) c.6933G>A (p.Leu2311=) c.6795G>A (p.Leu2265=) | |
X | g.53568737A>C | CA413163228 | HUWE1 | c.6659T>G (p.Leu2220Arg) c.6662T>G (p.Leu2221Arg) c.6635T>G (p.Leu2212Arg) c.6911T>G (p.Leu2304Arg) c.6908T>G (p.Leu2303Arg) n.7346T>G c.7043T>G (p.Leu2348Arg) c.7040T>G (p.Leu2347Arg) c.7022T>G (p.Leu2341Arg) c.6932T>G (p.Leu2311Arg) c.6794T>G (p.Leu2265Arg) | |
X | g.53568737A>G | CA413163229 | HUWE1 | c.6659T>C (p.Leu2220Pro) c.6662T>C (p.Leu2221Pro) c.6635T>C (p.Leu2212Pro) c.6911T>C (p.Leu2304Pro) c.6908T>C (p.Leu2303Pro) n.7346T>C c.7043T>C (p.Leu2348Pro) c.7040T>C (p.Leu2347Pro) c.7022T>C (p.Leu2341Pro) c.6932T>C (p.Leu2311Pro) c.6794T>C (p.Leu2265Pro) | |
X | g.53568737A>T | CA413163231 | HUWE1 | c.6659T>A (p.Leu2220Gln) c.6662T>A (p.Leu2221Gln) c.6635T>A (p.Leu2212Gln) c.6911T>A (p.Leu2304Gln) c.6908T>A (p.Leu2303Gln) n.7346T>A c.7043T>A (p.Leu2348Gln) c.7040T>A (p.Leu2347Gln) c.7022T>A (p.Leu2341Gln) c.6932T>A (p.Leu2311Gln) c.6794T>A (p.Leu2265Gln) | |
X | g.53568738G>A | CA516433645 | HUWE1 | c.6658C>T (p.Leu2220=) c.6661C>T (p.Leu2221=) c.6634C>T (p.Leu2212=) c.6910C>T (p.Leu2304=) c.6907C>T (p.Leu2303=) n.7345C>T c.7042C>T (p.Leu2348=) c.7039C>T (p.Leu2347=) c.7021C>T (p.Leu2341=) c.6931C>T (p.Leu2311=) c.6793C>T (p.Leu2265=) | |
X | g.53568738G>C | CA413163232 | HUWE1 | c.6658C>G (p.Leu2220Val) c.6661C>G (p.Leu2221Val) c.6634C>G (p.Leu2212Val) c.6910C>G (p.Leu2304Val) c.6907C>G (p.Leu2303Val) n.7345C>G c.7042C>G (p.Leu2348Val) c.7039C>G (p.Leu2347Val) c.7021C>G (p.Leu2341Val) c.6931C>G (p.Leu2311Val) c.6793C>G (p.Leu2265Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53568738G= | CA2429880751 | HUWE1 | c.6658C= (p.Leu2220=) c.6661C= (p.Leu2221=) c.6634C= (p.Leu2212=) c.6910C= (p.Leu2304=) c.6907C= (p.Leu2303=) n.7345C= c.7042C= (p.Leu2348=) c.7039C= (p.Leu2347=) c.7021C= (p.Leu2341=) c.6931C= (p.Leu2311=) c.6793C= (p.Leu2265=) | |
X | g.53568738G>T | CA413163234 | HUWE1 | c.6658C>A (p.Leu2220Met) c.6661C>A (p.Leu2221Met) c.6634C>A (p.Leu2212Met) c.6910C>A (p.Leu2304Met) c.6907C>A (p.Leu2303Met) n.7345C>A c.7042C>A (p.Leu2348Met) c.7039C>A (p.Leu2347Met) c.7021C>A (p.Leu2341Met) c.6931C>A (p.Leu2311Met) c.6793C>A (p.Leu2265Met) | |
X | g.53568739T>A | CA516433646 | HUWE1 | c.6657A>T (p.Gly2219=) c.6660A>T (p.Gly2220=) c.6633A>T (p.Gly2211=) c.6909A>T (p.Gly2303=) c.6906A>T (p.Gly2302=) n.7344A>T c.7041A>T (p.Gly2347=) c.7038A>T (p.Gly2346=) c.7020A>T (p.Gly2340=) c.6930A>T (p.Gly2310=) c.6792A>T (p.Gly2264=) | |
X | g.53568739T>C | CA516433647 | HUWE1 | c.6657A>G (p.Gly2219=) c.6660A>G (p.Gly2220=) c.6633A>G (p.Gly2211=) c.6909A>G (p.Gly2303=) c.6906A>G (p.Gly2302=) n.7344A>G c.7041A>G (p.Gly2347=) c.7038A>G (p.Gly2346=) c.7020A>G (p.Gly2340=) c.6930A>G (p.Gly2310=) c.6792A>G (p.Gly2264=) | |
X | g.53568739T>G | CA516433648 | HUWE1 | c.6657A>C (p.Gly2219=) c.6660A>C (p.Gly2220=) c.6633A>C (p.Gly2211=) c.6909A>C (p.Gly2303=) c.6906A>C (p.Gly2302=) n.7344A>C c.7041A>C (p.Gly2347=) c.7038A>C (p.Gly2346=) c.7020A>C (p.Gly2340=) c.6930A>C (p.Gly2310=) c.6792A>C (p.Gly2264=) | |
X | g.53568740C>A | CA413163235 | HUWE1 | c.6656G>T (p.Gly2219Val) c.6659G>T (p.Gly2220Val) c.6632G>T (p.Gly2211Val) c.6908G>T (p.Gly2303Val) c.6905G>T (p.Gly2302Val) n.7343G>T c.7040G>T (p.Gly2347Val) c.7037G>T (p.Gly2346Val) c.7019G>T (p.Gly2340Val) c.6929G>T (p.Gly2310Val) c.6791G>T (p.Gly2264Val) | |
X | g.53568740C>G | CA413163239 | HUWE1 | c.6656G>C (p.Gly2219Ala) c.6659G>C (p.Gly2220Ala) c.6632G>C (p.Gly2211Ala) c.6908G>C (p.Gly2303Ala) c.6905G>C (p.Gly2302Ala) n.7343G>C c.7040G>C (p.Gly2347Ala) c.7037G>C (p.Gly2346Ala) c.7019G>C (p.Gly2340Ala) c.6929G>C (p.Gly2310Ala) c.6791G>C (p.Gly2264Ala) | |
X | g.53568740C>T | CA413163241 | HUWE1 | c.6656G>A (p.Gly2219Glu) c.6659G>A (p.Gly2220Glu) c.6632G>A (p.Gly2211Glu) c.6908G>A (p.Gly2303Glu) c.6905G>A (p.Gly2302Glu) n.7343G>A c.7040G>A (p.Gly2347Glu) c.7037G>A (p.Gly2346Glu) c.7019G>A (p.Gly2340Glu) c.6929G>A (p.Gly2310Glu) c.6791G>A (p.Gly2264Glu) | |
X | g.53568741C>A | CA413163246 | HUWE1 | c.6655G>T (p.Gly2219Ter) c.6658G>T (p.Gly2220Ter) c.6631G>T (p.Gly2211Ter) c.6907G>T (p.Gly2303Ter) c.6904G>T (p.Gly2302Ter) n.7342G>T c.7039G>T (p.Gly2347Ter) c.7036G>T (p.Gly2346Ter) c.7018G>T (p.Gly2340Ter) c.6928G>T (p.Gly2310Ter) c.6790G>T (p.Gly2264Ter) | |
X | g.53568741C>G | CA413163248 | HUWE1 | c.6655G>C (p.Gly2219Arg) c.6658G>C (p.Gly2220Arg) c.6631G>C (p.Gly2211Arg) c.6907G>C (p.Gly2303Arg) c.6904G>C (p.Gly2302Arg) n.7342G>C c.7039G>C (p.Gly2347Arg) c.7036G>C (p.Gly2346Arg) c.7018G>C (p.Gly2340Arg) c.6928G>C (p.Gly2310Arg) c.6790G>C (p.Gly2264Arg) | |
X | g.53568741C>T | CA413163247 | HUWE1 | c.6655G>A (p.Gly2219Arg) c.6658G>A (p.Gly2220Arg) c.6631G>A (p.Gly2211Arg) c.6907G>A (p.Gly2303Arg) c.6904G>A (p.Gly2302Arg) n.7342G>A c.7039G>A (p.Gly2347Arg) c.7036G>A (p.Gly2346Arg) c.7018G>A (p.Gly2340Arg) c.6928G>A (p.Gly2310Arg) c.6790G>A (p.Gly2264Arg) | |
X | g.53568742C>A | CA413163249 | HUWE1 | c.6654G>T (p.Lys2218Asn) c.6657G>T (p.Lys2219Asn) c.6630G>T (p.Lys2210Asn) c.6906G>T (p.Lys2302Asn) c.6903G>T (p.Lys2301Asn) n.7341G>T c.7038G>T (p.Lys2346Asn) c.7035G>T (p.Lys2345Asn) c.7017G>T (p.Lys2339Asn) c.6927G>T (p.Lys2309Asn) c.6789G>T (p.Lys2263Asn) | |
X | g.53568742C>G | CA413163250 | HUWE1 | c.6654G>C (p.Lys2218Asn) c.6657G>C (p.Lys2219Asn) c.6630G>C (p.Lys2210Asn) c.6906G>C (p.Lys2302Asn) c.6903G>C (p.Lys2301Asn) n.7341G>C c.7038G>C (p.Lys2346Asn) c.7035G>C (p.Lys2345Asn) c.7017G>C (p.Lys2339Asn) c.6927G>C (p.Lys2309Asn) c.6789G>C (p.Lys2263Asn) | |
X | g.53568742C>T | CA516433649 | HUWE1 | c.6654G>A (p.Lys2218=) c.6657G>A (p.Lys2219=) c.6630G>A (p.Lys2210=) c.6906G>A (p.Lys2302=) c.6903G>A (p.Lys2301=) n.7341G>A c.7038G>A (p.Lys2346=) c.7035G>A (p.Lys2345=) c.7017G>A (p.Lys2339=) c.6927G>A (p.Lys2309=) c.6789G>A (p.Lys2263=) | |
X | g.53568743T>A | CA413163251 | HUWE1 | c.6653A>T (p.Lys2218Met) c.6656A>T (p.Lys2219Met) c.6629A>T (p.Lys2210Met) c.6905A>T (p.Lys2302Met) c.6902A>T (p.Lys2301Met) n.7340A>T c.7037A>T (p.Lys2346Met) c.7034A>T (p.Lys2345Met) c.7016A>T (p.Lys2339Met) c.6926A>T (p.Lys2309Met) c.6788A>T (p.Lys2263Met) | |
X | g.53568743T>C | CA413163252 | HUWE1 | c.6653A>G (p.Lys2218Arg) c.6656A>G (p.Lys2219Arg) c.6629A>G (p.Lys2210Arg) c.6905A>G (p.Lys2302Arg) c.6902A>G (p.Lys2301Arg) n.7340A>G c.7037A>G (p.Lys2346Arg) c.7034A>G (p.Lys2345Arg) c.7016A>G (p.Lys2339Arg) c.6926A>G (p.Lys2309Arg) c.6788A>G (p.Lys2263Arg) | dbSNP gnomAD v4 |
X | g.53568743T>G | CA413163255 | HUWE1 | c.6653A>C (p.Lys2218Thr) c.6656A>C (p.Lys2219Thr) c.6629A>C (p.Lys2210Thr) c.6905A>C (p.Lys2302Thr) c.6902A>C (p.Lys2301Thr) n.7340A>C c.7037A>C (p.Lys2346Thr) c.7034A>C (p.Lys2345Thr) c.7016A>C (p.Lys2339Thr) c.6926A>C (p.Lys2309Thr) c.6788A>C (p.Lys2263Thr) | |
X | g.53568743T= | CA2429880752 | HUWE1 | c.6653A= (p.Lys2218=) c.6656A= (p.Lys2219=) c.6629A= (p.Lys2210=) c.6905A= (p.Lys2302=) c.6902A= (p.Lys2301=) n.7340A= c.7037A= (p.Lys2346=) c.7034A= (p.Lys2345=) c.7016A= (p.Lys2339=) c.6926A= (p.Lys2309=) c.6788A= (p.Lys2263=) | |
X | g.53568744T>A | CA413163258 | HUWE1 | c.6652A>T (p.Lys2218Ter) c.6655A>T (p.Lys2219Ter) c.6628A>T (p.Lys2210Ter) c.6904A>T (p.Lys2302Ter) c.6901A>T (p.Lys2301Ter) n.7339A>T c.7036A>T (p.Lys2346Ter) c.7033A>T (p.Lys2345Ter) c.7015A>T (p.Lys2339Ter) c.6925A>T (p.Lys2309Ter) c.6787A>T (p.Lys2263Ter) | |
X | g.53568744T>C | CA413163260 | HUWE1 | c.6652A>G (p.Lys2218Glu) c.6655A>G (p.Lys2219Glu) c.6628A>G (p.Lys2210Glu) c.6904A>G (p.Lys2302Glu) c.6901A>G (p.Lys2301Glu) n.7339A>G c.7036A>G (p.Lys2346Glu) c.7033A>G (p.Lys2345Glu) c.7015A>G (p.Lys2339Glu) c.6925A>G (p.Lys2309Glu) c.6787A>G (p.Lys2263Glu) | |
X | g.53568744T>G | CA413163264 | HUWE1 | c.6652A>C (p.Lys2218Gln) c.6655A>C (p.Lys2219Gln) c.6628A>C (p.Lys2210Gln) c.6904A>C (p.Lys2302Gln) c.6901A>C (p.Lys2301Gln) n.7339A>C c.7036A>C (p.Lys2346Gln) c.7033A>C (p.Lys2345Gln) c.7015A>C (p.Lys2339Gln) c.6925A>C (p.Lys2309Gln) c.6787A>C (p.Lys2263Gln) | |
X | g.53568745C>A | CA413163274 | HUWE1 | c.6651G>T (p.Lys2217Asn) c.6654G>T (p.Lys2218Asn) c.6627G>T (p.Lys2209Asn) c.6903G>T (p.Lys2301Asn) c.6900G>T (p.Lys2300Asn) n.7338G>T c.7035G>T (p.Lys2345Asn) c.7032G>T (p.Lys2344Asn) c.7014G>T (p.Lys2338Asn) c.6924G>T (p.Lys2308Asn) c.6786G>T (p.Lys2262Asn) | |
X | g.53568745C= | CA2429880753 | HUWE1 | c.6651G= (p.Lys2217=) c.6654G= (p.Lys2218=) c.6627G= (p.Lys2209=) c.6903G= (p.Lys2301=) c.6900G= (p.Lys2300=) n.7338G= c.7035G= (p.Lys2345=) c.7032G= (p.Lys2344=) c.7014G= (p.Lys2338=) c.6924G= (p.Lys2308=) c.6786G= (p.Lys2262=) | |
X | g.53568745C>G | CA413163276 | HUWE1 | c.6651G>C (p.Lys2217Asn) c.6654G>C (p.Lys2218Asn) c.6627G>C (p.Lys2209Asn) c.6903G>C (p.Lys2301Asn) c.6900G>C (p.Lys2300Asn) n.7338G>C c.7035G>C (p.Lys2345Asn) c.7032G>C (p.Lys2344Asn) c.7014G>C (p.Lys2338Asn) c.6924G>C (p.Lys2308Asn) c.6786G>C (p.Lys2262Asn) | |
X | g.53568745C>T | CA516433650 | HUWE1 | c.6651G>A (p.Lys2217=) c.6654G>A (p.Lys2218=) c.6627G>A (p.Lys2209=) c.6903G>A (p.Lys2301=) c.6900G>A (p.Lys2300=) n.7338G>A c.7035G>A (p.Lys2345=) c.7032G>A (p.Lys2344=) c.7014G>A (p.Lys2338=) c.6924G>A (p.Lys2308=) c.6786G>A (p.Lys2262=) | dbSNP |
X | g.53568746T>A | CA413163281 | HUWE1 | c.6650A>T (p.Lys2217Met) c.6653A>T (p.Lys2218Met) c.6626A>T (p.Lys2209Met) c.6902A>T (p.Lys2301Met) c.6899A>T (p.Lys2300Met) n.7337A>T c.7034A>T (p.Lys2345Met) c.7031A>T (p.Lys2344Met) c.7013A>T (p.Lys2338Met) c.6923A>T (p.Lys2308Met) c.6785A>T (p.Lys2262Met) | |
X | g.53568746T>C | CA413163284 | HUWE1 | c.6650A>G (p.Lys2217Arg) c.6653A>G (p.Lys2218Arg) c.6626A>G (p.Lys2209Arg) c.6902A>G (p.Lys2301Arg) c.6899A>G (p.Lys2300Arg) n.7337A>G c.7034A>G (p.Lys2345Arg) c.7031A>G (p.Lys2344Arg) c.7013A>G (p.Lys2338Arg) c.6923A>G (p.Lys2308Arg) c.6785A>G (p.Lys2262Arg) | gnomAD v4 |
X | g.53568746T>G | CA413163287 | HUWE1 | c.6650A>C (p.Lys2217Thr) c.6653A>C (p.Lys2218Thr) c.6626A>C (p.Lys2209Thr) c.6902A>C (p.Lys2301Thr) c.6899A>C (p.Lys2300Thr) n.7337A>C c.7034A>C (p.Lys2345Thr) c.7031A>C (p.Lys2344Thr) c.7013A>C (p.Lys2338Thr) c.6923A>C (p.Lys2308Thr) c.6785A>C (p.Lys2262Thr) | |
X | g.53568747T>A | CA413163289 | HUWE1 | c.6649A>T (p.Lys2217Ter) c.6652A>T (p.Lys2218Ter) c.6625A>T (p.Lys2209Ter) c.6901A>T (p.Lys2301Ter) c.6898A>T (p.Lys2300Ter) n.7336A>T c.7033A>T (p.Lys2345Ter) c.7030A>T (p.Lys2344Ter) c.7012A>T (p.Lys2338Ter) c.6922A>T (p.Lys2308Ter) c.6784A>T (p.Lys2262Ter) | |
X | g.53568747T>C | CA413163293 | HUWE1 | c.6649A>G (p.Lys2217Glu) c.6652A>G (p.Lys2218Glu) c.6625A>G (p.Lys2209Glu) c.6901A>G (p.Lys2301Glu) c.6898A>G (p.Lys2300Glu) n.7336A>G c.7033A>G (p.Lys2345Glu) c.7030A>G (p.Lys2344Glu) c.7012A>G (p.Lys2338Glu) c.6922A>G (p.Lys2308Glu) c.6784A>G (p.Lys2262Glu) | ClinVar |
X | g.53568747T>G | CA413163291 | HUWE1 | c.6649A>C (p.Lys2217Gln) c.6652A>C (p.Lys2218Gln) c.6625A>C (p.Lys2209Gln) c.6901A>C (p.Lys2301Gln) c.6898A>C (p.Lys2300Gln) n.7336A>C c.7033A>C (p.Lys2345Gln) c.7030A>C (p.Lys2344Gln) c.7012A>C (p.Lys2338Gln) c.6922A>C (p.Lys2308Gln) c.6784A>C (p.Lys2262Gln) | |
X | g.53568748C>A | CA516433651 | HUWE1 | c.6648G>T (p.Leu2216=) c.6651G>T (p.Leu2217=) c.6624G>T (p.Leu2208=) c.6900G>T (p.Leu2300=) c.6897G>T (p.Leu2299=) n.7335G>T c.7032G>T (p.Leu2344=) c.7029G>T (p.Leu2343=) c.7011G>T (p.Leu2337=) c.6921G>T (p.Leu2307=) c.6783G>T (p.Leu2261=) | |
X | g.53568748C>G | CA516433653 | HUWE1 | c.6648G>C (p.Leu2216=) c.6651G>C (p.Leu2217=) c.6624G>C (p.Leu2208=) c.6900G>C (p.Leu2300=) c.6897G>C (p.Leu2299=) n.7335G>C c.7032G>C (p.Leu2344=) c.7029G>C (p.Leu2343=) c.7011G>C (p.Leu2337=) c.6921G>C (p.Leu2307=) c.6783G>C (p.Leu2261=) | |
X | g.53568748C>T | CA516433652 | HUWE1 | c.6648G>A (p.Leu2216=) c.6651G>A (p.Leu2217=) c.6624G>A (p.Leu2208=) c.6900G>A (p.Leu2300=) c.6897G>A (p.Leu2299=) n.7335G>A c.7032G>A (p.Leu2344=) c.7029G>A (p.Leu2343=) c.7011G>A (p.Leu2337=) c.6921G>A (p.Leu2307=) c.6783G>A (p.Leu2261=) | |
X | g.53568749A>C | CA413163297 | HUWE1 | c.6647T>G (p.Leu2216Arg) c.6650T>G (p.Leu2217Arg) c.6623T>G (p.Leu2208Arg) c.6899T>G (p.Leu2300Arg) c.6896T>G (p.Leu2299Arg) n.7334T>G c.7031T>G (p.Leu2344Arg) c.7028T>G (p.Leu2343Arg) c.7010T>G (p.Leu2337Arg) c.6920T>G (p.Leu2307Arg) c.6782T>G (p.Leu2261Arg) | |
X | g.53568749A>G | CA413163303 | HUWE1 | c.6647T>C (p.Leu2216Pro) c.6650T>C (p.Leu2217Pro) c.6623T>C (p.Leu2208Pro) c.6899T>C (p.Leu2300Pro) c.6896T>C (p.Leu2299Pro) n.7334T>C c.7031T>C (p.Leu2344Pro) c.7028T>C (p.Leu2343Pro) c.7010T>C (p.Leu2337Pro) c.6920T>C (p.Leu2307Pro) c.6782T>C (p.Leu2261Pro) | |
X | g.53568749A>T | CA413163305 | HUWE1 | c.6647T>A (p.Leu2216Gln) c.6650T>A (p.Leu2217Gln) c.6623T>A (p.Leu2208Gln) c.6899T>A (p.Leu2300Gln) c.6896T>A (p.Leu2299Gln) n.7334T>A c.7031T>A (p.Leu2344Gln) c.7028T>A (p.Leu2343Gln) c.7010T>A (p.Leu2337Gln) c.6920T>A (p.Leu2307Gln) c.6782T>A (p.Leu2261Gln) | |
X | g.53568750G>A | CA516433654 | HUWE1 | c.6646C>T (p.Leu2216=) c.6649C>T (p.Leu2217=) c.6622C>T (p.Leu2208=) c.6898C>T (p.Leu2300=) c.6895C>T (p.Leu2299=) n.7333C>T c.7030C>T (p.Leu2344=) c.7027C>T (p.Leu2343=) c.7009C>T (p.Leu2337=) c.6919C>T (p.Leu2307=) c.6781C>T (p.Leu2261=) | |
X | g.53568750G>C | CA413163308 | HUWE1 | c.6646C>G (p.Leu2216Val) c.6649C>G (p.Leu2217Val) c.6622C>G (p.Leu2208Val) c.6898C>G (p.Leu2300Val) c.6895C>G (p.Leu2299Val) n.7333C>G c.7030C>G (p.Leu2344Val) c.7027C>G (p.Leu2343Val) c.7009C>G (p.Leu2337Val) c.6919C>G (p.Leu2307Val) c.6781C>G (p.Leu2261Val) | |
X | g.53568750G>T | CA413163311 | HUWE1 | c.6646C>A (p.Leu2216Met) c.6649C>A (p.Leu2217Met) c.6622C>A (p.Leu2208Met) c.6898C>A (p.Leu2300Met) c.6895C>A (p.Leu2299Met) n.7333C>A c.7030C>A (p.Leu2344Met) c.7027C>A (p.Leu2343Met) c.7009C>A (p.Leu2337Met) c.6919C>A (p.Leu2307Met) c.6781C>A (p.Leu2261Met) | |
X | g.53568751G>A | CA516433655 | HUWE1 | c.6645C>T (p.Phe2215=) c.6648C>T (p.Phe2216=) c.6621C>T (p.Phe2207=) c.6897C>T (p.Phe2299=) c.6894C>T (p.Phe2298=) n.7332C>T c.7029C>T (p.Phe2343=) c.7026C>T (p.Phe2342=) c.7008C>T (p.Phe2336=) c.6918C>T (p.Phe2306=) c.6780C>T (p.Phe2260=) | gnomAD v4 |
X | g.53568751G>C | CA413163313 | HUWE1 | c.6645C>G (p.Phe2215Leu) c.6648C>G (p.Phe2216Leu) c.6621C>G (p.Phe2207Leu) c.6897C>G (p.Phe2299Leu) c.6894C>G (p.Phe2298Leu) n.7332C>G c.7029C>G (p.Phe2343Leu) c.7026C>G (p.Phe2342Leu) c.7008C>G (p.Phe2336Leu) c.6918C>G (p.Phe2306Leu) c.6780C>G (p.Phe2260Leu) | |
X | g.53568751G>T | CA413163316 | HUWE1 | c.6645C>A (p.Phe2215Leu) c.6648C>A (p.Phe2216Leu) c.6621C>A (p.Phe2207Leu) c.6897C>A (p.Phe2299Leu) c.6894C>A (p.Phe2298Leu) n.7332C>A c.7029C>A (p.Phe2343Leu) c.7026C>A (p.Phe2342Leu) c.7008C>A (p.Phe2336Leu) c.6918C>A (p.Phe2306Leu) c.6780C>A (p.Phe2260Leu) | |
X | g.53568752A>C | CA413163319 | HUWE1 | c.6644T>G (p.Phe2215Cys) c.6647T>G (p.Phe2216Cys) c.6620T>G (p.Phe2207Cys) c.6896T>G (p.Phe2299Cys) c.6893T>G (p.Phe2298Cys) n.7331T>G c.7028T>G (p.Phe2343Cys) c.7025T>G (p.Phe2342Cys) c.7007T>G (p.Phe2336Cys) c.6917T>G (p.Phe2306Cys) c.6779T>G (p.Phe2260Cys) | |
X | g.53568752A>G | CA413163322 | HUWE1 | c.6644T>C (p.Phe2215Ser) c.6647T>C (p.Phe2216Ser) c.6620T>C (p.Phe2207Ser) c.6896T>C (p.Phe2299Ser) c.6893T>C (p.Phe2298Ser) n.7331T>C c.7028T>C (p.Phe2343Ser) c.7025T>C (p.Phe2342Ser) c.7007T>C (p.Phe2336Ser) c.6917T>C (p.Phe2306Ser) c.6779T>C (p.Phe2260Ser) | |
X | g.53568752A>T | CA413163325 | HUWE1 | c.6644T>A (p.Phe2215Tyr) c.6647T>A (p.Phe2216Tyr) c.6620T>A (p.Phe2207Tyr) c.6896T>A (p.Phe2299Tyr) c.6893T>A (p.Phe2298Tyr) n.7331T>A c.7028T>A (p.Phe2343Tyr) c.7025T>A (p.Phe2342Tyr) c.7007T>A (p.Phe2336Tyr) c.6917T>A (p.Phe2306Tyr) c.6779T>A (p.Phe2260Tyr) | |
X | g.53568755del | CA2569188456 | HUWE1 | c.6644del (p.Phe2215SerfsTer2) c.6647del (p.Phe2216SerfsTer2) c.6620del (p.Phe2207SerfsTer2) c.6896del (p.Phe2299SerfsTer2) c.6893del (p.Phe2298SerfsTer2) n.7331del c.7028del (p.Phe2343SerfsTer2) c.7025del (p.Phe2342SerfsTer2) c.7007del (p.Phe2336SerfsTer2) c.6917del (p.Phe2306SerfsTer2) c.6779del (p.Phe2260SerfsTer2) | |
X | g.53568753A>C | CA413163331 | HUWE1 | c.6643T>G (p.Phe2215Val) c.6646T>G (p.Phe2216Val) c.6619T>G (p.Phe2207Val) c.6895T>G (p.Phe2299Val) c.6892T>G (p.Phe2298Val) n.7330T>G c.7027T>G (p.Phe2343Val) c.7024T>G (p.Phe2342Val) c.7006T>G (p.Phe2336Val) c.6916T>G (p.Phe2306Val) c.6778T>G (p.Phe2260Val) | |
X | g.53568753A>G | CA413163332 | HUWE1 | c.6643T>C (p.Phe2215Leu) c.6646T>C (p.Phe2216Leu) c.6619T>C (p.Phe2207Leu) c.6895T>C (p.Phe2299Leu) c.6892T>C (p.Phe2298Leu) n.7330T>C c.7027T>C (p.Phe2343Leu) c.7024T>C (p.Phe2342Leu) c.7006T>C (p.Phe2336Leu) c.6916T>C (p.Phe2306Leu) c.6778T>C (p.Phe2260Leu) | |
X | g.53568753A>T | CA413163329 | HUWE1 | c.6643T>A (p.Phe2215Ile) c.6646T>A (p.Phe2216Ile) c.6619T>A (p.Phe2207Ile) c.6895T>A (p.Phe2299Ile) c.6892T>A (p.Phe2298Ile) n.7330T>A c.7027T>A (p.Phe2343Ile) c.7024T>A (p.Phe2342Ile) c.7006T>A (p.Phe2336Ile) c.6916T>A (p.Phe2306Ile) c.6778T>A (p.Phe2260Ile) | |
X | g.53568754A>C | CA516433656 | HUWE1 | c.6642T>G (p.Leu2214=) c.6645T>G (p.Leu2215=) c.6618T>G (p.Leu2206=) c.6894T>G (p.Leu2298=) c.6891T>G (p.Leu2297=) n.7329T>G c.7026T>G (p.Leu2342=) c.7023T>G (p.Leu2341=) c.7005T>G (p.Leu2335=) c.6915T>G (p.Leu2305=) c.6777T>G (p.Leu2259=) | |
X | g.53568754A>G | CA516433658 | HUWE1 | c.6642T>C (p.Leu2214=) c.6645T>C (p.Leu2215=) c.6618T>C (p.Leu2206=) c.6894T>C (p.Leu2298=) c.6891T>C (p.Leu2297=) n.7329T>C c.7026T>C (p.Leu2342=) c.7023T>C (p.Leu2341=) c.7005T>C (p.Leu2335=) c.6915T>C (p.Leu2305=) c.6777T>C (p.Leu2259=) | |
X | g.53568754A>T | CA516433657 | HUWE1 | c.6642T>A (p.Leu2214=) c.6645T>A (p.Leu2215=) c.6618T>A (p.Leu2206=) c.6894T>A (p.Leu2298=) c.6891T>A (p.Leu2297=) n.7329T>A c.7026T>A (p.Leu2342=) c.7023T>A (p.Leu2341=) c.7005T>A (p.Leu2335=) c.6915T>A (p.Leu2305=) c.6777T>A (p.Leu2259=) | |
X | g.53568755A>C | CA413163349 | HUWE1 | c.6641T>G (p.Leu2214Arg) c.6644T>G (p.Leu2215Arg) c.6617T>G (p.Leu2206Arg) c.6893T>G (p.Leu2298Arg) c.6890T>G (p.Leu2297Arg) n.7328T>G c.7025T>G (p.Leu2342Arg) c.7022T>G (p.Leu2341Arg) c.7004T>G (p.Leu2335Arg) c.6914T>G (p.Leu2305Arg) c.6776T>G (p.Leu2259Arg) | |
X | g.53568755A>G | CA413163334 | HUWE1 | c.6641T>C (p.Leu2214Pro) c.6644T>C (p.Leu2215Pro) c.6617T>C (p.Leu2206Pro) c.6893T>C (p.Leu2298Pro) c.6890T>C (p.Leu2297Pro) n.7328T>C c.7025T>C (p.Leu2342Pro) c.7022T>C (p.Leu2341Pro) c.7004T>C (p.Leu2335Pro) c.6914T>C (p.Leu2305Pro) c.6776T>C (p.Leu2259Pro) | |
X | g.53568755A>T | CA413163336 | HUWE1 | c.6641T>A (p.Leu2214His) c.6644T>A (p.Leu2215His) c.6617T>A (p.Leu2206His) c.6893T>A (p.Leu2298His) c.6890T>A (p.Leu2297His) n.7328T>A c.7025T>A (p.Leu2342His) c.7022T>A (p.Leu2341His) c.7004T>A (p.Leu2335His) c.6914T>A (p.Leu2305His) c.6776T>A (p.Leu2259His) | |
X | g.53568756G>A | CA413163354 | HUWE1 | c.6640C>T (p.Leu2214Phe) c.6643C>T (p.Leu2215Phe) c.6616C>T (p.Leu2206Phe) c.6892C>T (p.Leu2298Phe) c.6889C>T (p.Leu2297Phe) n.7327C>T c.7024C>T (p.Leu2342Phe) c.7021C>T (p.Leu2341Phe) c.7003C>T (p.Leu2335Phe) c.6913C>T (p.Leu2305Phe) c.6775C>T (p.Leu2259Phe) | |
X | g.53568756G>C | CA413163357 | HUWE1 | c.6640C>G (p.Leu2214Val) c.6643C>G (p.Leu2215Val) c.6616C>G (p.Leu2206Val) c.6892C>G (p.Leu2298Val) c.6889C>G (p.Leu2297Val) n.7327C>G c.7024C>G (p.Leu2342Val) c.7021C>G (p.Leu2341Val) c.7003C>G (p.Leu2335Val) c.6913C>G (p.Leu2305Val) c.6775C>G (p.Leu2259Val) | |
X | g.53568756G>T | CA413163360 | HUWE1 | c.6640C>A (p.Leu2214Ile) c.6643C>A (p.Leu2215Ile) c.6616C>A (p.Leu2206Ile) c.6892C>A (p.Leu2298Ile) c.6889C>A (p.Leu2297Ile) n.7327C>A c.7024C>A (p.Leu2342Ile) c.7021C>A (p.Leu2341Ile) c.7003C>A (p.Leu2335Ile) c.6913C>A (p.Leu2305Ile) c.6775C>A (p.Leu2259Ile) | COSMIC COSMIC |
X | g.53568757C>A | CA516433659 | HUWE1 | c.6639G>T (p.Arg2213=) c.6642G>T (p.Arg2214=) c.6615G>T (p.Arg2205=) c.6891G>T (p.Arg2297=) c.6888G>T (p.Arg2296=) n.7326G>T c.7023G>T (p.Arg2341=) c.7020G>T (p.Arg2340=) c.7002G>T (p.Arg2334=) c.6912G>T (p.Arg2304=) c.6774G>T (p.Arg2258=) | |
X | g.53568757C>G | CA516433660 | HUWE1 | c.6639G>C (p.Arg2213=) c.6642G>C (p.Arg2214=) c.6615G>C (p.Arg2205=) c.6891G>C (p.Arg2297=) c.6888G>C (p.Arg2296=) n.7326G>C c.7023G>C (p.Arg2341=) c.7020G>C (p.Arg2340=) c.7002G>C (p.Arg2334=) c.6912G>C (p.Arg2304=) c.6774G>C (p.Arg2258=) | |
X | g.53568757C>T | CA516433661 | HUWE1 | c.6639G>A (p.Arg2213=) c.6642G>A (p.Arg2214=) c.6615G>A (p.Arg2205=) c.6891G>A (p.Arg2297=) c.6888G>A (p.Arg2296=) n.7326G>A c.7023G>A (p.Arg2341=) c.7020G>A (p.Arg2340=) c.7002G>A (p.Arg2334=) c.6912G>A (p.Arg2304=) c.6774G>A (p.Arg2258=) | |
X | g.53568758C>A | CA413163370 | HUWE1 | c.6638G>T (p.Arg2213Leu) c.6641G>T (p.Arg2214Leu) c.6614G>T (p.Arg2205Leu) c.6890G>T (p.Arg2297Leu) c.6887G>T (p.Arg2296Leu) n.7325G>T c.7022G>T (p.Arg2341Leu) c.7019G>T (p.Arg2340Leu) c.7001G>T (p.Arg2334Leu) c.6911G>T (p.Arg2304Leu) c.6773G>T (p.Arg2258Leu) | |
X | g.53568758C>G | CA413163366 | HUWE1 | c.6638G>C (p.Arg2213Pro) c.6641G>C (p.Arg2214Pro) c.6614G>C (p.Arg2205Pro) c.6890G>C (p.Arg2297Pro) c.6887G>C (p.Arg2296Pro) n.7325G>C c.7022G>C (p.Arg2341Pro) c.7019G>C (p.Arg2340Pro) c.7001G>C (p.Arg2334Pro) c.6911G>C (p.Arg2304Pro) c.6773G>C (p.Arg2258Pro) | |
X | g.53568758C>T | CA413163364 | HUWE1 | c.6638G>A (p.Arg2213Gln) c.6641G>A (p.Arg2214Gln) c.6614G>A (p.Arg2205Gln) c.6890G>A (p.Arg2297Gln) c.6887G>A (p.Arg2296Gln) n.7325G>A c.7022G>A (p.Arg2341Gln) c.7019G>A (p.Arg2340Gln) c.7001G>A (p.Arg2334Gln) c.6911G>A (p.Arg2304Gln) c.6773G>A (p.Arg2258Gln) | COSMIC COSMIC |
X | g.53568759G>A | CA413163374 | HUWE1 | c.6637C>T (p.Arg2213Trp) c.6640C>T (p.Arg2214Trp) c.6613C>T (p.Arg2205Trp) c.6889C>T (p.Arg2297Trp) c.6886C>T (p.Arg2296Trp) n.7324C>T c.7021C>T (p.Arg2341Trp) c.7018C>T (p.Arg2340Trp) c.7000C>T (p.Arg2334Trp) c.6910C>T (p.Arg2304Trp) c.6772C>T (p.Arg2258Trp) | COSMIC COSMIC |
X | g.53568759G>C | CA413163377 | HUWE1 | c.6637C>G (p.Arg2213Gly) c.6640C>G (p.Arg2214Gly) c.6613C>G (p.Arg2205Gly) c.6889C>G (p.Arg2297Gly) c.6886C>G (p.Arg2296Gly) n.7324C>G c.7021C>G (p.Arg2341Gly) c.7018C>G (p.Arg2340Gly) c.7000C>G (p.Arg2334Gly) c.6910C>G (p.Arg2304Gly) c.6772C>G (p.Arg2258Gly) | |
X | g.53568759G>T | CA516433662 | HUWE1 | c.6637C>A (p.Arg2213=) c.6640C>A (p.Arg2214=) c.6613C>A (p.Arg2205=) c.6889C>A (p.Arg2297=) c.6886C>A (p.Arg2296=) n.7324C>A c.7021C>A (p.Arg2341=) c.7018C>A (p.Arg2340=) c.7000C>A (p.Arg2334=) c.6910C>A (p.Arg2304=) c.6772C>A (p.Arg2258=) | |
X | g.53568760A>C | CA413163380 | HUWE1 | c.6636T>G (p.Ile2212Met) c.6639T>G (p.Ile2213Met) c.6612T>G (p.Ile2204Met) c.6888T>G (p.Ile2296Met) c.6885T>G (p.Ile2295Met) n.7323T>G c.7020T>G (p.Ile2340Met) c.7017T>G (p.Ile2339Met) c.6999T>G (p.Ile2333Met) c.6909T>G (p.Ile2303Met) c.6771T>G (p.Ile2257Met) | |
X | g.53568760A>G | CA516433663 | HUWE1 | c.6636T>C (p.Ile2212=) c.6639T>C (p.Ile2213=) c.6612T>C (p.Ile2204=) c.6888T>C (p.Ile2296=) c.6885T>C (p.Ile2295=) n.7323T>C c.7020T>C (p.Ile2340=) c.7017T>C (p.Ile2339=) c.6999T>C (p.Ile2333=) c.6909T>C (p.Ile2303=) c.6771T>C (p.Ile2257=) | |
X | g.53568760A>T | CA516433664 | HUWE1 | c.6636T>A (p.Ile2212=) c.6639T>A (p.Ile2213=) c.6612T>A (p.Ile2204=) c.6888T>A (p.Ile2296=) c.6885T>A (p.Ile2295=) n.7323T>A c.7020T>A (p.Ile2340=) c.7017T>A (p.Ile2339=) c.6999T>A (p.Ile2333=) c.6909T>A (p.Ile2303=) c.6771T>A (p.Ile2257=) | |
X | g.53568761A>C | CA413163384 | HUWE1 | c.6635T>G (p.Ile2212Ser) c.6638T>G (p.Ile2213Ser) c.6611T>G (p.Ile2204Ser) c.6887T>G (p.Ile2296Ser) c.6884T>G (p.Ile2295Ser) n.7322T>G c.7019T>G (p.Ile2340Ser) c.7016T>G (p.Ile2339Ser) c.6998T>G (p.Ile2333Ser) c.6908T>G (p.Ile2303Ser) c.6770T>G (p.Ile2257Ser) | |
X | g.53568761A>G | CA413163394 | HUWE1 | c.6635T>C (p.Ile2212Thr) c.6638T>C (p.Ile2213Thr) c.6611T>C (p.Ile2204Thr) c.6887T>C (p.Ile2296Thr) c.6884T>C (p.Ile2295Thr) n.7322T>C c.7019T>C (p.Ile2340Thr) c.7016T>C (p.Ile2339Thr) c.6998T>C (p.Ile2333Thr) c.6908T>C (p.Ile2303Thr) c.6770T>C (p.Ile2257Thr) | |
X | g.53568761A>T | CA413163398 | HUWE1 | c.6635T>A (p.Ile2212Asn) c.6638T>A (p.Ile2213Asn) c.6611T>A (p.Ile2204Asn) c.6887T>A (p.Ile2296Asn) c.6884T>A (p.Ile2295Asn) n.7322T>A c.7019T>A (p.Ile2340Asn) c.7016T>A (p.Ile2339Asn) c.6998T>A (p.Ile2333Asn) c.6908T>A (p.Ile2303Asn) c.6770T>A (p.Ile2257Asn) | |
X | g.53568762T>A | CA413163404 | HUWE1 | c.6634A>T (p.Ile2212Phe) c.6637A>T (p.Ile2213Phe) c.6610A>T (p.Ile2204Phe) c.6886A>T (p.Ile2296Phe) c.6883A>T (p.Ile2295Phe) n.7321A>T c.7018A>T (p.Ile2340Phe) c.7015A>T (p.Ile2339Phe) c.6997A>T (p.Ile2333Phe) c.6907A>T (p.Ile2303Phe) c.6769A>T (p.Ile2257Phe) | |
X | g.53568762T>C | CA413163412 | HUWE1 | c.6634A>G (p.Ile2212Val) c.6637A>G (p.Ile2213Val) c.6610A>G (p.Ile2204Val) c.6886A>G (p.Ile2296Val) c.6883A>G (p.Ile2295Val) n.7321A>G c.7018A>G (p.Ile2340Val) c.7015A>G (p.Ile2339Val) c.6997A>G (p.Ile2333Val) c.6907A>G (p.Ile2303Val) c.6769A>G (p.Ile2257Val) | |
X | g.53568762T>G | CA413163408 | HUWE1 | c.6634A>C (p.Ile2212Leu) c.6637A>C (p.Ile2213Leu) c.6610A>C (p.Ile2204Leu) c.6886A>C (p.Ile2296Leu) c.6883A>C (p.Ile2295Leu) n.7321A>C c.7018A>C (p.Ile2340Leu) c.7015A>C (p.Ile2339Leu) c.6997A>C (p.Ile2333Leu) c.6907A>C (p.Ile2303Leu) c.6769A>C (p.Ile2257Leu) | |
X | g.53568763G>A | CA516433666 | HUWE1 | c.6633C>T (p.Ile2211=) c.6636C>T (p.Ile2212=) c.6609C>T (p.Ile2203=) c.6885C>T (p.Ile2295=) c.6882C>T (p.Ile2294=) n.7320C>T c.7017C>T (p.Ile2339=) c.7014C>T (p.Ile2338=) c.6996C>T (p.Ile2332=) c.6906C>T (p.Ile2302=) c.6768C>T (p.Ile2256=) | |
X | g.53568763G>C | CA413163416 | HUWE1 | c.6633C>G (p.Ile2211Met) c.6636C>G (p.Ile2212Met) c.6609C>G (p.Ile2203Met) c.6885C>G (p.Ile2295Met) c.6882C>G (p.Ile2294Met) n.7320C>G c.7017C>G (p.Ile2339Met) c.7014C>G (p.Ile2338Met) c.6996C>G (p.Ile2332Met) c.6906C>G (p.Ile2302Met) c.6768C>G (p.Ile2256Met) | |
X | g.53568763G>T | CA516433665 | HUWE1 | c.6633C>A (p.Ile2211=) c.6636C>A (p.Ile2212=) c.6609C>A (p.Ile2203=) c.6885C>A (p.Ile2295=) c.6882C>A (p.Ile2294=) n.7320C>A c.7017C>A (p.Ile2339=) c.7014C>A (p.Ile2338=) c.6996C>A (p.Ile2332=) c.6906C>A (p.Ile2302=) c.6768C>A (p.Ile2256=) | COSMIC COSMIC |
X | g.53568764A>C | CA413163419 | HUWE1 | c.6632T>G (p.Ile2211Ser) c.6635T>G (p.Ile2212Ser) c.6608T>G (p.Ile2203Ser) c.6884T>G (p.Ile2295Ser) c.6881T>G (p.Ile2294Ser) n.7319T>G c.7016T>G (p.Ile2339Ser) c.7013T>G (p.Ile2338Ser) c.6995T>G (p.Ile2332Ser) c.6905T>G (p.Ile2302Ser) c.6767T>G (p.Ile2256Ser) | COSMIC COSMIC |
X | g.53568764A>G | CA413163422 | HUWE1 | c.6632T>C (p.Ile2211Thr) c.6635T>C (p.Ile2212Thr) c.6608T>C (p.Ile2203Thr) c.6884T>C (p.Ile2295Thr) c.6881T>C (p.Ile2294Thr) n.7319T>C c.7016T>C (p.Ile2339Thr) c.7013T>C (p.Ile2338Thr) c.6995T>C (p.Ile2332Thr) c.6905T>C (p.Ile2302Thr) c.6767T>C (p.Ile2256Thr) | |
X | g.53568764A>T | CA413163425 | HUWE1 | c.6632T>A (p.Ile2211Asn) c.6635T>A (p.Ile2212Asn) c.6608T>A (p.Ile2203Asn) c.6884T>A (p.Ile2295Asn) c.6881T>A (p.Ile2294Asn) n.7319T>A c.7016T>A (p.Ile2339Asn) c.7013T>A (p.Ile2338Asn) c.6995T>A (p.Ile2332Asn) c.6905T>A (p.Ile2302Asn) c.6767T>A (p.Ile2256Asn) | |
X | g.53568765T>A | CA413163429 | HUWE1 | c.6631A>T (p.Ile2211Phe) c.6634A>T (p.Ile2212Phe) c.6607A>T (p.Ile2203Phe) c.6883A>T (p.Ile2295Phe) c.6880A>T (p.Ile2294Phe) n.7318A>T c.7015A>T (p.Ile2339Phe) c.7012A>T (p.Ile2338Phe) c.6994A>T (p.Ile2332Phe) c.6904A>T (p.Ile2302Phe) c.6766A>T (p.Ile2256Phe) | |
X | g.53568765T>C | CA413163432 | HUWE1 | c.6631A>G (p.Ile2211Val) c.6634A>G (p.Ile2212Val) c.6607A>G (p.Ile2203Val) c.6883A>G (p.Ile2295Val) c.6880A>G (p.Ile2294Val) n.7318A>G c.7015A>G (p.Ile2339Val) c.7012A>G (p.Ile2338Val) c.6994A>G (p.Ile2332Val) c.6904A>G (p.Ile2302Val) c.6766A>G (p.Ile2256Val) | gnomAD v4 COSMIC COSMIC |
X | g.53568765T>G | CA413163435 | HUWE1 | c.6631A>C (p.Ile2211Leu) c.6634A>C (p.Ile2212Leu) c.6607A>C (p.Ile2203Leu) c.6883A>C (p.Ile2295Leu) c.6880A>C (p.Ile2294Leu) n.7318A>C c.7015A>C (p.Ile2339Leu) c.7012A>C (p.Ile2338Leu) c.6994A>C (p.Ile2332Leu) c.6904A>C (p.Ile2302Leu) c.6766A>C (p.Ile2256Leu) | |
X | g.53568766G>A | CA10422067 | HUWE1 | c.6630C>T (p.Asn2210=) c.6633C>T (p.Asn2211=) c.6606C>T (p.Asn2202=) c.6882C>T (p.Asn2294=) c.6879C>T (p.Asn2293=) n.7317C>T c.7014C>T (p.Asn2338=) c.7011C>T (p.Asn2337=) c.6993C>T (p.Asn2331=) c.6903C>T (p.Asn2301=) c.6765C>T (p.Asn2255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53568766G>C | CA413163446 | HUWE1 | c.6630C>G (p.Asn2210Lys) c.6633C>G (p.Asn2211Lys) c.6606C>G (p.Asn2202Lys) c.6882C>G (p.Asn2294Lys) c.6879C>G (p.Asn2293Lys) n.7317C>G c.7014C>G (p.Asn2338Lys) c.7011C>G (p.Asn2337Lys) c.6993C>G (p.Asn2331Lys) c.6903C>G (p.Asn2301Lys) c.6765C>G (p.Asn2255Lys) | |
X | g.53568766G= | CA2429880754 | HUWE1 | c.6630C= (p.Asn2210=) c.6633C= (p.Asn2211=) c.6606C= (p.Asn2202=) c.6882C= (p.Asn2294=) c.6879C= (p.Asn2293=) n.7317C= c.7014C= (p.Asn2338=) c.7011C= (p.Asn2337=) c.6993C= (p.Asn2331=) c.6903C= (p.Asn2301=) c.6765C= (p.Asn2255=) | |
X | g.53568766G>T | CA413163449 | HUWE1 | c.6630C>A (p.Asn2210Lys) c.6633C>A (p.Asn2211Lys) c.6606C>A (p.Asn2202Lys) c.6882C>A (p.Asn2294Lys) c.6879C>A (p.Asn2293Lys) n.7317C>A c.7014C>A (p.Asn2338Lys) c.7011C>A (p.Asn2337Lys) c.6993C>A (p.Asn2331Lys) c.6903C>A (p.Asn2301Lys) c.6765C>A (p.Asn2255Lys) | |
X | g.53568767T>A | CA413163451 | HUWE1 | c.6629A>T (p.Asn2210Ile) c.6632A>T (p.Asn2211Ile) c.6605A>T (p.Asn2202Ile) c.6881A>T (p.Asn2294Ile) c.6878A>T (p.Asn2293Ile) n.7316A>T c.7013A>T (p.Asn2338Ile) c.7010A>T (p.Asn2337Ile) c.6992A>T (p.Asn2331Ile) c.6902A>T (p.Asn2301Ile) c.6764A>T (p.Asn2255Ile) | |
X | g.53568767T>C | CA204918 | HUWE1 | c.6629A>G (p.Asn2210Ser) c.6632A>G (p.Asn2211Ser) c.6605A>G (p.Asn2202Ser) c.6881A>G (p.Asn2294Ser) c.6878A>G (p.Asn2293Ser) n.7316A>G c.7013A>G (p.Asn2338Ser) c.7010A>G (p.Asn2337Ser) c.6992A>G (p.Asn2331Ser) c.6902A>G (p.Asn2301Ser) c.6764A>G (p.Asn2255Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53568767T>G | CA413163450 | HUWE1 | c.6629A>C (p.Asn2210Thr) c.6632A>C (p.Asn2211Thr) c.6605A>C (p.Asn2202Thr) c.6881A>C (p.Asn2294Thr) c.6878A>C (p.Asn2293Thr) n.7316A>C c.7013A>C (p.Asn2338Thr) c.7010A>C (p.Asn2337Thr) c.6992A>C (p.Asn2331Thr) c.6902A>C (p.Asn2301Thr) c.6764A>C (p.Asn2255Thr) | |
X | g.53568767T= | CA2429880755 | HUWE1 | c.6629A= (p.Asn2210=) c.6632A= (p.Asn2211=) c.6605A= (p.Asn2202=) c.6881A= (p.Asn2294=) c.6878A= (p.Asn2293=) n.7316A= c.7013A= (p.Asn2338=) c.7010A= (p.Asn2337=) c.6992A= (p.Asn2331=) c.6902A= (p.Asn2301=) c.6764A= (p.Asn2255=) | |
X | g.53568768T>A | CA413163452 | HUWE1 | c.6628A>T (p.Asn2210Tyr) c.6631A>T (p.Asn2211Tyr) c.6604A>T (p.Asn2202Tyr) c.6880A>T (p.Asn2294Tyr) c.6877A>T (p.Asn2293Tyr) n.7315A>T c.7012A>T (p.Asn2338Tyr) c.7009A>T (p.Asn2337Tyr) c.6991A>T (p.Asn2331Tyr) c.6901A>T (p.Asn2301Tyr) c.6763A>T (p.Asn2255Tyr) | |
X | g.53568768T>C | CA413163453 | HUWE1 | c.6628A>G (p.Asn2210Asp) c.6631A>G (p.Asn2211Asp) c.6604A>G (p.Asn2202Asp) c.6880A>G (p.Asn2294Asp) c.6877A>G (p.Asn2293Asp) n.7315A>G c.7012A>G (p.Asn2338Asp) c.7009A>G (p.Asn2337Asp) c.6991A>G (p.Asn2331Asp) c.6901A>G (p.Asn2301Asp) c.6763A>G (p.Asn2255Asp) | |
X | g.53568768T>G | CA413163454 | HUWE1 | c.6628A>C (p.Asn2210His) c.6631A>C (p.Asn2211His) c.6604A>C (p.Asn2202His) c.6880A>C (p.Asn2294His) c.6877A>C (p.Asn2293His) n.7315A>C c.7012A>C (p.Asn2338His) c.7009A>C (p.Asn2337His) c.6991A>C (p.Asn2331His) c.6901A>C (p.Asn2301His) c.6763A>C (p.Asn2255His) | |
X | g.53568769G>A | CA516433667 | HUWE1 | c.6627C>T (p.Asn2209=) c.6630C>T (p.Asn2210=) c.6603C>T (p.Asn2201=) c.6879C>T (p.Asn2293=) c.6876C>T (p.Asn2292=) n.7314C>T c.7011C>T (p.Asn2337=) c.7008C>T (p.Asn2336=) c.6990C>T (p.Asn2330=) c.6900C>T (p.Asn2300=) c.6762C>T (p.Asn2254=) | dbSNP gnomAD v2 |
X | g.53568769G>C | CA413163457 | HUWE1 | c.6627C>G (p.Asn2209Lys) c.6630C>G (p.Asn2210Lys) c.6603C>G (p.Asn2201Lys) c.6879C>G (p.Asn2293Lys) c.6876C>G (p.Asn2292Lys) n.7314C>G c.7011C>G (p.Asn2337Lys) c.7008C>G (p.Asn2336Lys) c.6990C>G (p.Asn2330Lys) c.6900C>G (p.Asn2300Lys) c.6762C>G (p.Asn2254Lys) | |
X | g.53568769G= | CA2429880756 | HUWE1 | c.6627C= (p.Asn2209=) c.6630C= (p.Asn2210=) c.6603C= (p.Asn2201=) c.6879C= (p.Asn2293=) c.6876C= (p.Asn2292=) n.7314C= c.7011C= (p.Asn2337=) c.7008C= (p.Asn2336=) c.6990C= (p.Asn2330=) c.6900C= (p.Asn2300=) c.6762C= (p.Asn2254=) | |
X | g.53568769G>T | CA413163459 | HUWE1 | c.6627C>A (p.Asn2209Lys) c.6630C>A (p.Asn2210Lys) c.6603C>A (p.Asn2201Lys) c.6879C>A (p.Asn2293Lys) c.6876C>A (p.Asn2292Lys) n.7314C>A c.7011C>A (p.Asn2337Lys) c.7008C>A (p.Asn2336Lys) c.6990C>A (p.Asn2330Lys) c.6900C>A (p.Asn2300Lys) c.6762C>A (p.Asn2254Lys) | |
X | g.53568770T>A | CA413163471 | HUWE1 | c.6626A>T (p.Asn2209Ile) c.6629A>T (p.Asn2210Ile) c.6602A>T (p.Asn2201Ile) c.6878A>T (p.Asn2293Ile) c.6875A>T (p.Asn2292Ile) n.7313A>T c.7010A>T (p.Asn2337Ile) c.7007A>T (p.Asn2336Ile) c.6989A>T (p.Asn2330Ile) c.6899A>T (p.Asn2300Ile) c.6761A>T (p.Asn2254Ile) | |
X | g.53568770T>C | CA413163470 | HUWE1 | c.6626A>G (p.Asn2209Ser) c.6629A>G (p.Asn2210Ser) c.6602A>G (p.Asn2201Ser) c.6878A>G (p.Asn2293Ser) c.6875A>G (p.Asn2292Ser) n.7313A>G c.7010A>G (p.Asn2337Ser) c.7007A>G (p.Asn2336Ser) c.6989A>G (p.Asn2330Ser) c.6899A>G (p.Asn2300Ser) c.6761A>G (p.Asn2254Ser) | dbSNP gnomAD v2 COSMIC COSMIC |
X | g.53568770T>G | CA413163467 | HUWE1 | c.6626A>C (p.Asn2209Thr) c.6629A>C (p.Asn2210Thr) c.6602A>C (p.Asn2201Thr) c.6878A>C (p.Asn2293Thr) c.6875A>C (p.Asn2292Thr) n.7313A>C c.7010A>C (p.Asn2337Thr) c.7007A>C (p.Asn2336Thr) c.6989A>C (p.Asn2330Thr) c.6899A>C (p.Asn2300Thr) c.6761A>C (p.Asn2254Thr) | |
X | g.53568770T= | CA2429880757 | HUWE1 | c.6626A= (p.Asn2209=) c.6629A= (p.Asn2210=) c.6602A= (p.Asn2201=) c.6878A= (p.Asn2293=) c.6875A= (p.Asn2292=) n.7313A= c.7010A= (p.Asn2337=) c.7007A= (p.Asn2336=) c.6989A= (p.Asn2330=) c.6899A= (p.Asn2300=) c.6761A= (p.Asn2254=) | |
X | g.53568771T>A | CA413163475 | HUWE1 | c.6625A>T (p.Asn2209Tyr) c.6628A>T (p.Asn2210Tyr) c.6601A>T (p.Asn2201Tyr) c.6877A>T (p.Asn2293Tyr) c.6874A>T (p.Asn2292Tyr) n.7312A>T c.7009A>T (p.Asn2337Tyr) c.7006A>T (p.Asn2336Tyr) c.6988A>T (p.Asn2330Tyr) c.6898A>T (p.Asn2300Tyr) c.6760A>T (p.Asn2254Tyr) | |
X | g.53568771T>C | CA413163477 | HUWE1 | c.6625A>G (p.Asn2209Asp) c.6628A>G (p.Asn2210Asp) c.6601A>G (p.Asn2201Asp) c.6877A>G (p.Asn2293Asp) c.6874A>G (p.Asn2292Asp) n.7312A>G c.7009A>G (p.Asn2337Asp) c.7006A>G (p.Asn2336Asp) c.6988A>G (p.Asn2330Asp) c.6898A>G (p.Asn2300Asp) c.6760A>G (p.Asn2254Asp) | |
X | g.53568771T>G | CA413163479 | HUWE1 | c.6625A>C (p.Asn2209His) c.6628A>C (p.Asn2210His) c.6601A>C (p.Asn2201His) c.6877A>C (p.Asn2293His) c.6874A>C (p.Asn2292His) n.7312A>C c.7009A>C (p.Asn2337His) c.7006A>C (p.Asn2336His) c.6988A>C (p.Asn2330His) c.6898A>C (p.Asn2300His) c.6760A>C (p.Asn2254His) | |
X | g.53568772C>A | CA413163489 | HUWE1 | c.6624G>T (p.Met2208Ile) c.6627G>T (p.Met2209Ile) c.6600G>T (p.Met2200Ile) c.6876G>T (p.Met2292Ile) c.6873G>T (p.Met2291Ile) n.7311G>T c.7008G>T (p.Met2336Ile) c.7005G>T (p.Met2335Ile) c.6987G>T (p.Met2329Ile) c.6897G>T (p.Met2299Ile) c.6759G>T (p.Met2253Ile) | |
X | g.53568772C>G | CA413163492 | HUWE1 | c.6624G>C (p.Met2208Ile) c.6627G>C (p.Met2209Ile) c.6600G>C (p.Met2200Ile) c.6876G>C (p.Met2292Ile) c.6873G>C (p.Met2291Ile) n.7311G>C c.7008G>C (p.Met2336Ile) c.7005G>C (p.Met2335Ile) c.6987G>C (p.Met2329Ile) c.6897G>C (p.Met2299Ile) c.6759G>C (p.Met2253Ile) | |
X | g.53568772C>T | CA413163494 | HUWE1 | c.6624G>A (p.Met2208Ile) c.6627G>A (p.Met2209Ile) c.6600G>A (p.Met2200Ile) c.6876G>A (p.Met2292Ile) c.6873G>A (p.Met2291Ile) n.7311G>A c.7008G>A (p.Met2336Ile) c.7005G>A (p.Met2335Ile) c.6987G>A (p.Met2329Ile) c.6897G>A (p.Met2299Ile) c.6759G>A (p.Met2253Ile) | |
X | g.53568773A>C | CA413163495 | HUWE1 | c.6623T>G (p.Met2208Arg) c.6626T>G (p.Met2209Arg) c.6599T>G (p.Met2200Arg) c.6875T>G (p.Met2292Arg) c.6872T>G (p.Met2291Arg) n.7310T>G c.7007T>G (p.Met2336Arg) c.7004T>G (p.Met2335Arg) c.6986T>G (p.Met2329Arg) c.6896T>G (p.Met2299Arg) c.6758T>G (p.Met2253Arg) | |
X | g.53568773A>G | CA413163499 | HUWE1 | c.6623T>C (p.Met2208Thr) c.6626T>C (p.Met2209Thr) c.6599T>C (p.Met2200Thr) c.6875T>C (p.Met2292Thr) c.6872T>C (p.Met2291Thr) n.7310T>C c.7007T>C (p.Met2336Thr) c.7004T>C (p.Met2335Thr) c.6986T>C (p.Met2329Thr) c.6896T>C (p.Met2299Thr) c.6758T>C (p.Met2253Thr) | |
X | g.53568773A>T | CA413163496 | HUWE1 | c.6623T>A (p.Met2208Lys) c.6626T>A (p.Met2209Lys) c.6599T>A (p.Met2200Lys) c.6875T>A (p.Met2292Lys) c.6872T>A (p.Met2291Lys) n.7310T>A c.7007T>A (p.Met2336Lys) c.7004T>A (p.Met2335Lys) c.6986T>A (p.Met2329Lys) c.6896T>A (p.Met2299Lys) c.6758T>A (p.Met2253Lys) | |
X | g.53568774T>A | CA413163501 | HUWE1 | c.6622A>T (p.Met2208Leu) c.6625A>T (p.Met2209Leu) c.6598A>T (p.Met2200Leu) c.6874A>T (p.Met2292Leu) c.6871A>T (p.Met2291Leu) n.7309A>T c.7006A>T (p.Met2336Leu) c.7003A>T (p.Met2335Leu) c.6985A>T (p.Met2329Leu) c.6895A>T (p.Met2299Leu) c.6757A>T (p.Met2253Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53568774T>C | CA413163517 | HUWE1 | c.6622A>G (p.Met2208Val) c.6625A>G (p.Met2209Val) c.6598A>G (p.Met2200Val) c.6874A>G (p.Met2292Val) c.6871A>G (p.Met2291Val) n.7309A>G c.7006A>G (p.Met2336Val) c.7003A>G (p.Met2335Val) c.6985A>G (p.Met2329Val) c.6895A>G (p.Met2299Val) c.6757A>G (p.Met2253Val) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.53568774T>G | CA413163521 | HUWE1 | c.6622A>C (p.Met2208Leu) c.6625A>C (p.Met2209Leu) c.6598A>C (p.Met2200Leu) c.6874A>C (p.Met2292Leu) c.6871A>C (p.Met2291Leu) n.7309A>C c.7006A>C (p.Met2336Leu) c.7003A>C (p.Met2335Leu) c.6985A>C (p.Met2329Leu) c.6895A>C (p.Met2299Leu) c.6757A>C (p.Met2253Leu) | |
X | g.53568774T= | CA2429880758 | HUWE1 | c.6622A= (p.Met2208=) c.6625A= (p.Met2209=) c.6598A= (p.Met2200=) c.6874A= (p.Met2292=) c.6871A= (p.Met2291=) n.7309A= c.7006A= (p.Met2336=) c.7003A= (p.Met2335=) c.6985A= (p.Met2329=) c.6895A= (p.Met2299=) c.6757A= (p.Met2253=) | |
X | g.53568775G>A | CA516433668 | HUWE1 | c.6621C>T (p.Gly2207=) c.6624C>T (p.Gly2208=) c.6597C>T (p.Gly2199=) c.6873C>T (p.Gly2291=) c.6870C>T (p.Gly2290=) n.7308C>T c.7005C>T (p.Gly2335=) c.7002C>T (p.Gly2334=) c.6984C>T (p.Gly2328=) c.6894C>T (p.Gly2298=) c.6756C>T (p.Gly2252=) | |
X | g.53568775G>C | CA516433669 | HUWE1 | c.6621C>G (p.Gly2207=) c.6624C>G (p.Gly2208=) c.6597C>G (p.Gly2199=) c.6873C>G (p.Gly2291=) c.6870C>G (p.Gly2290=) n.7308C>G c.7005C>G (p.Gly2335=) c.7002C>G (p.Gly2334=) c.6984C>G (p.Gly2328=) c.6894C>G (p.Gly2298=) c.6756C>G (p.Gly2252=) | |
X | g.53568775G>T | CA516433671 | HUWE1 | c.6621C>A (p.Gly2207=) c.6624C>A (p.Gly2208=) c.6597C>A (p.Gly2199=) c.6873C>A (p.Gly2291=) c.6870C>A (p.Gly2290=) n.7308C>A c.7005C>A (p.Gly2335=) c.7002C>A (p.Gly2334=) c.6984C>A (p.Gly2328=) c.6894C>A (p.Gly2298=) c.6756C>A (p.Gly2252=) | |
X | g.53568776C>A | CA413163527 | HUWE1 | c.6620G>T (p.Gly2207Val) c.6623G>T (p.Gly2208Val) c.6596G>T (p.Gly2199Val) c.6872G>T (p.Gly2291Val) c.6869G>T (p.Gly2290Val) n.7307G>T c.7004G>T (p.Gly2335Val) c.7001G>T (p.Gly2334Val) c.6983G>T (p.Gly2328Val) c.6893G>T (p.Gly2298Val) c.6755G>T (p.Gly2252Val) | dbSNP |
X | g.53568776C= | CA2429880759 | HUWE1 | c.6620G= (p.Gly2207=) c.6623G= (p.Gly2208=) c.6596G= (p.Gly2199=) c.6872G= (p.Gly2291=) c.6869G= (p.Gly2290=) n.7307G= c.7004G= (p.Gly2335=) c.7001G= (p.Gly2334=) c.6983G= (p.Gly2328=) c.6893G= (p.Gly2298=) c.6755G= (p.Gly2252=) | |
X | g.53568776C>G | CA413163553 | HUWE1 | c.6620G>C (p.Gly2207Ala) c.6623G>C (p.Gly2208Ala) c.6596G>C (p.Gly2199Ala) c.6872G>C (p.Gly2291Ala) c.6869G>C (p.Gly2290Ala) n.7307G>C c.7004G>C (p.Gly2335Ala) c.7001G>C (p.Gly2334Ala) c.6983G>C (p.Gly2328Ala) c.6893G>C (p.Gly2298Ala) c.6755G>C (p.Gly2252Ala) | |
X | g.53568776C>T | CA413163557 | HUWE1 | c.6620G>A (p.Gly2207Asp) c.6623G>A (p.Gly2208Asp) c.6596G>A (p.Gly2199Asp) c.6872G>A (p.Gly2291Asp) c.6869G>A (p.Gly2290Asp) n.7307G>A c.7004G>A (p.Gly2335Asp) c.7001G>A (p.Gly2334Asp) c.6983G>A (p.Gly2328Asp) c.6893G>A (p.Gly2298Asp) c.6755G>A (p.Gly2252Asp) | gnomAD v4 COSMIC COSMIC |
X | g.53568777C>A | CA413163561 | HUWE1 | c.6619G>T (p.Gly2207Cys) c.6622G>T (p.Gly2208Cys) c.6595G>T (p.Gly2199Cys) c.6871G>T (p.Gly2291Cys) c.6868G>T (p.Gly2290Cys) n.7306G>T c.7003G>T (p.Gly2335Cys) c.7000G>T (p.Gly2334Cys) c.6982G>T (p.Gly2328Cys) c.6892G>T (p.Gly2298Cys) c.6754G>T (p.Gly2252Cys) | |
X | g.53568777C>G | CA413163563 | HUWE1 | c.6619G>C (p.Gly2207Arg) c.6622G>C (p.Gly2208Arg) c.6595G>C (p.Gly2199Arg) c.6871G>C (p.Gly2291Arg) c.6868G>C (p.Gly2290Arg) n.7306G>C c.7003G>C (p.Gly2335Arg) c.7000G>C (p.Gly2334Arg) c.6982G>C (p.Gly2328Arg) c.6892G>C (p.Gly2298Arg) c.6754G>C (p.Gly2252Arg) | |
X | g.53568777C>T | CA413163566 | HUWE1 | c.6619G>A (p.Gly2207Ser) c.6622G>A (p.Gly2208Ser) c.6595G>A (p.Gly2199Ser) c.6871G>A (p.Gly2291Ser) c.6868G>A (p.Gly2290Ser) n.7306G>A c.7003G>A (p.Gly2335Ser) c.7000G>A (p.Gly2334Ser) c.6982G>A (p.Gly2328Ser) c.6892G>A (p.Gly2298Ser) c.6754G>A (p.Gly2252Ser) | |
X | g.53568778A>C | CA413163569 | HUWE1 | c.6618T>G (p.Asn2206Lys) c.6621T>G (p.Asn2207Lys) c.6594T>G (p.Asn2198Lys) c.6870T>G (p.Asn2290Lys) c.6867T>G (p.Asn2289Lys) n.7305T>G c.7002T>G (p.Asn2334Lys) c.6999T>G (p.Asn2333Lys) c.6981T>G (p.Asn2327Lys) c.6891T>G (p.Asn2297Lys) c.6753T>G (p.Asn2251Lys) | |
X | g.53568778A>G | CA516433672 | HUWE1 | c.6618T>C (p.Asn2206=) c.6621T>C (p.Asn2207=) c.6594T>C (p.Asn2198=) c.6870T>C (p.Asn2290=) c.6867T>C (p.Asn2289=) n.7305T>C c.7002T>C (p.Asn2334=) c.6999T>C (p.Asn2333=) c.6981T>C (p.Asn2327=) c.6891T>C (p.Asn2297=) c.6753T>C (p.Asn2251=) | |
X | g.53568778A>T | CA413163573 | HUWE1 | c.6618T>A (p.Asn2206Lys) c.6621T>A (p.Asn2207Lys) c.6594T>A (p.Asn2198Lys) c.6870T>A (p.Asn2290Lys) c.6867T>A (p.Asn2289Lys) n.7305T>A c.7002T>A (p.Asn2334Lys) c.6999T>A (p.Asn2333Lys) c.6981T>A (p.Asn2327Lys) c.6891T>A (p.Asn2297Lys) c.6753T>A (p.Asn2251Lys) | |
X | g.53568779T>A | CA413163584 | HUWE1 | c.6617A>T (p.Asn2206Ile) c.6620A>T (p.Asn2207Ile) c.6593A>T (p.Asn2198Ile) c.6869A>T (p.Asn2290Ile) c.6866A>T (p.Asn2289Ile) n.7304A>T c.7001A>T (p.Asn2334Ile) c.6998A>T (p.Asn2333Ile) c.6980A>T (p.Asn2327Ile) c.6890A>T (p.Asn2297Ile) c.6752A>T (p.Asn2251Ile) | |
X | g.53568779T>C | CA413163582 | HUWE1 | c.6617A>G (p.Asn2206Ser) c.6620A>G (p.Asn2207Ser) c.6593A>G (p.Asn2198Ser) c.6869A>G (p.Asn2290Ser) c.6866A>G (p.Asn2289Ser) n.7304A>G c.7001A>G (p.Asn2334Ser) c.6998A>G (p.Asn2333Ser) c.6980A>G (p.Asn2327Ser) c.6890A>G (p.Asn2297Ser) c.6752A>G (p.Asn2251Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53568779T>G | CA413163579 | HUWE1 | c.6617A>C (p.Asn2206Thr) c.6620A>C (p.Asn2207Thr) c.6593A>C (p.Asn2198Thr) c.6869A>C (p.Asn2290Thr) c.6866A>C (p.Asn2289Thr) n.7304A>C c.7001A>C (p.Asn2334Thr) c.6998A>C (p.Asn2333Thr) c.6980A>C (p.Asn2327Thr) c.6890A>C (p.Asn2297Thr) c.6752A>C (p.Asn2251Thr) | |
X | g.53568779T= | CA2429880760 | HUWE1 | c.6617A= (p.Asn2206=) c.6620A= (p.Asn2207=) c.6593A= (p.Asn2198=) c.6869A= (p.Asn2290=) c.6866A= (p.Asn2289=) n.7304A= c.7001A= (p.Asn2334=) c.6998A= (p.Asn2333=) c.6980A= (p.Asn2327=) c.6890A= (p.Asn2297=) c.6752A= (p.Asn2251=) | |
X | g.53568780T>A | CA413163586 | HUWE1 | c.6616A>T (p.Asn2206Tyr) c.6619A>T (p.Asn2207Tyr) c.6592A>T (p.Asn2198Tyr) c.6868A>T (p.Asn2290Tyr) c.6865A>T (p.Asn2289Tyr) n.7303A>T c.7000A>T (p.Asn2334Tyr) c.6997A>T (p.Asn2333Tyr) c.6979A>T (p.Asn2327Tyr) c.6889A>T (p.Asn2297Tyr) c.6751A>T (p.Asn2251Tyr) | |
X | g.53568780T>C | CA413163590 | HUWE1 | c.6616A>G (p.Asn2206Asp) c.6619A>G (p.Asn2207Asp) c.6592A>G (p.Asn2198Asp) c.6868A>G (p.Asn2290Asp) c.6865A>G (p.Asn2289Asp) n.7303A>G c.7000A>G (p.Asn2334Asp) c.6997A>G (p.Asn2333Asp) c.6979A>G (p.Asn2327Asp) c.6889A>G (p.Asn2297Asp) c.6751A>G (p.Asn2251Asp) | gnomAD v4 |
X | g.53568780T>G | CA413163588 | HUWE1 | c.6616A>C (p.Asn2206His) c.6619A>C (p.Asn2207His) c.6592A>C (p.Asn2198His) c.6868A>C (p.Asn2290His) c.6865A>C (p.Asn2289His) n.7303A>C c.7000A>C (p.Asn2334His) c.6997A>C (p.Asn2333His) c.6979A>C (p.Asn2327His) c.6889A>C (p.Asn2297His) c.6751A>C (p.Asn2251His) | |
X | g.53568781G>A | CA516433673 | HUWE1 | c.6615C>T (p.His2205=) c.6618C>T (p.His2206=) c.6591C>T (p.His2197=) c.6867C>T (p.His2289=) c.6864C>T (p.His2288=) n.7302C>T c.6999C>T (p.His2333=) c.6996C>T (p.His2332=) c.6978C>T (p.His2326=) c.6888C>T (p.His2296=) c.6750C>T (p.His2250=) | dbSNP gnomAD v4 |
X | g.53568781G>C | CA413163592 | HUWE1 | c.6615C>G (p.His2205Gln) c.6618C>G (p.His2206Gln) c.6591C>G (p.His2197Gln) c.6867C>G (p.His2289Gln) c.6864C>G (p.His2288Gln) n.7302C>G c.6999C>G (p.His2333Gln) c.6996C>G (p.His2332Gln) c.6978C>G (p.His2326Gln) c.6888C>G (p.His2296Gln) c.6750C>G (p.His2250Gln) | |
X | g.53568781G= | CA2429880761 | HUWE1 | c.6615C= (p.His2205=) c.6618C= (p.His2206=) c.6591C= (p.His2197=) c.6867C= (p.His2289=) c.6864C= (p.His2288=) n.7302C= c.6999C= (p.His2333=) c.6996C= (p.His2332=) c.6978C= (p.His2326=) c.6888C= (p.His2296=) c.6750C= (p.His2250=) | |
X | g.53568781G>T | CA413163595 | HUWE1 | c.6615C>A (p.His2205Gln) c.6618C>A (p.His2206Gln) c.6591C>A (p.His2197Gln) c.6867C>A (p.His2289Gln) c.6864C>A (p.His2288Gln) n.7302C>A c.6999C>A (p.His2333Gln) c.6996C>A (p.His2332Gln) c.6978C>A (p.His2326Gln) c.6888C>A (p.His2296Gln) c.6750C>A (p.His2250Gln) | dbSNP |
X | g.53568782T>A | CA413163598 | HUWE1 | c.6614A>T (p.His2205Leu) c.6617A>T (p.His2206Leu) c.6590A>T (p.His2197Leu) c.6866A>T (p.His2289Leu) c.6863A>T (p.His2288Leu) n.7301A>T c.6998A>T (p.His2333Leu) c.6995A>T (p.His2332Leu) c.6977A>T (p.His2326Leu) c.6887A>T (p.His2296Leu) c.6749A>T (p.His2250Leu) | |
X | g.53568782T>C | CA413163601 | HUWE1 | c.6614A>G (p.His2205Arg) c.6617A>G (p.His2206Arg) c.6590A>G (p.His2197Arg) c.6866A>G (p.His2289Arg) c.6863A>G (p.His2288Arg) n.7301A>G c.6998A>G (p.His2333Arg) c.6995A>G (p.His2332Arg) c.6977A>G (p.His2326Arg) c.6887A>G (p.His2296Arg) c.6749A>G (p.His2250Arg) | |
X | g.53568782T>G | CA413163603 | HUWE1 | c.6614A>C (p.His2205Pro) c.6617A>C (p.His2206Pro) c.6590A>C (p.His2197Pro) c.6866A>C (p.His2289Pro) c.6863A>C (p.His2288Pro) n.7301A>C c.6998A>C (p.His2333Pro) c.6995A>C (p.His2332Pro) c.6977A>C (p.His2326Pro) c.6887A>C (p.His2296Pro) c.6749A>C (p.His2250Pro) | |
X | g.53568783G>A | CA413163605 | HUWE1 | c.6613C>T (p.His2205Tyr) c.6616C>T (p.His2206Tyr) c.6589C>T (p.His2197Tyr) c.6865C>T (p.His2289Tyr) c.6862C>T (p.His2288Tyr) n.7300C>T c.6997C>T (p.His2333Tyr) c.6994C>T (p.His2332Tyr) c.6976C>T (p.His2326Tyr) c.6886C>T (p.His2296Tyr) c.6748C>T (p.His2250Tyr) | |
X | g.53568783G>C | CA413163607 | HUWE1 | c.6613C>G (p.His2205Asp) c.6616C>G (p.His2206Asp) c.6589C>G (p.His2197Asp) c.6865C>G (p.His2289Asp) c.6862C>G (p.His2288Asp) n.7300C>G c.6997C>G (p.His2333Asp) c.6994C>G (p.His2332Asp) c.6976C>G (p.His2326Asp) c.6886C>G (p.His2296Asp) c.6748C>G (p.His2250Asp) | |
X | g.53568783G>T | CA413163612 | HUWE1 | c.6613C>A (p.His2205Asn) c.6616C>A (p.His2206Asn) c.6589C>A (p.His2197Asn) c.6865C>A (p.His2289Asn) c.6862C>A (p.His2288Asn) n.7300C>A c.6997C>A (p.His2333Asn) c.6994C>A (p.His2332Asn) c.6976C>A (p.His2326Asn) c.6886C>A (p.His2296Asn) c.6748C>A (p.His2250Asn) | |
X | g.53568784C>A | CA413163615 | HUWE1 | c.6612G>T (p.Gln2204His) c.6615G>T (p.Gln2205His) c.6588G>T (p.Gln2196His) c.6864G>T (p.Gln2288His) c.6861G>T (p.Gln2287His) n.7299G>T c.6996G>T (p.Gln2332His) c.6993G>T (p.Gln2331His) c.6975G>T (p.Gln2325His) c.6885G>T (p.Gln2295His) c.6747G>T (p.Gln2249His) | |
X | g.53568784C>G | CA413163621 | HUWE1 | c.6612G>C (p.Gln2204His) c.6615G>C (p.Gln2205His) c.6588G>C (p.Gln2196His) c.6864G>C (p.Gln2288His) c.6861G>C (p.Gln2287His) n.7299G>C c.6996G>C (p.Gln2332His) c.6993G>C (p.Gln2331His) c.6975G>C (p.Gln2325His) c.6885G>C (p.Gln2295His) c.6747G>C (p.Gln2249His) | |
X | g.53568784C>T | CA516433674 | HUWE1 | c.6612G>A (p.Gln2204=) c.6615G>A (p.Gln2205=) c.6588G>A (p.Gln2196=) c.6864G>A (p.Gln2288=) c.6861G>A (p.Gln2287=) n.7299G>A c.6996G>A (p.Gln2332=) c.6993G>A (p.Gln2331=) c.6975G>A (p.Gln2325=) c.6885G>A (p.Gln2295=) c.6747G>A (p.Gln2249=) | gnomAD v4 |
X | g.53568785T>A | CA413163624 | HUWE1 | c.6611A>T (p.Gln2204Leu) c.6614A>T (p.Gln2205Leu) c.6587A>T (p.Gln2196Leu) c.6863A>T (p.Gln2288Leu) c.6860A>T (p.Gln2287Leu) n.7298A>T c.6995A>T (p.Gln2332Leu) c.6992A>T (p.Gln2331Leu) c.6974A>T (p.Gln2325Leu) c.6884A>T (p.Gln2295Leu) c.6746A>T (p.Gln2249Leu) | |
X | g.53568785T>C | CA413163627 | HUWE1 | c.6611A>G (p.Gln2204Arg) c.6614A>G (p.Gln2205Arg) c.6587A>G (p.Gln2196Arg) c.6863A>G (p.Gln2288Arg) c.6860A>G (p.Gln2287Arg) n.7298A>G c.6995A>G (p.Gln2332Arg) c.6992A>G (p.Gln2331Arg) c.6974A>G (p.Gln2325Arg) c.6884A>G (p.Gln2295Arg) c.6746A>G (p.Gln2249Arg) | |
X | g.53568785T>G | CA413163629 | HUWE1 | c.6611A>C (p.Gln2204Pro) c.6614A>C (p.Gln2205Pro) c.6587A>C (p.Gln2196Pro) c.6863A>C (p.Gln2288Pro) c.6860A>C (p.Gln2287Pro) n.7298A>C c.6995A>C (p.Gln2332Pro) c.6992A>C (p.Gln2331Pro) c.6974A>C (p.Gln2325Pro) c.6884A>C (p.Gln2295Pro) c.6746A>C (p.Gln2249Pro) | |
X | g.53568786G>A | CA413163639 | HUWE1 | c.6610C>T (p.Gln2204Ter) c.6613C>T (p.Gln2205Ter) c.6586C>T (p.Gln2196Ter) c.6862C>T (p.Gln2288Ter) c.6859C>T (p.Gln2287Ter) n.7297C>T c.6994C>T (p.Gln2332Ter) c.6991C>T (p.Gln2331Ter) c.6973C>T (p.Gln2325Ter) c.6883C>T (p.Gln2295Ter) c.6745C>T (p.Gln2249Ter) | |
X | g.53568786G>C | CA413163632 | HUWE1 | c.6610C>G (p.Gln2204Glu) c.6613C>G (p.Gln2205Glu) c.6586C>G (p.Gln2196Glu) c.6862C>G (p.Gln2288Glu) c.6859C>G (p.Gln2287Glu) n.7297C>G c.6994C>G (p.Gln2332Glu) c.6991C>G (p.Gln2331Glu) c.6973C>G (p.Gln2325Glu) c.6883C>G (p.Gln2295Glu) c.6745C>G (p.Gln2249Glu) | |
X | g.53568786G>T | CA413163637 | HUWE1 | c.6610C>A (p.Gln2204Lys) c.6613C>A (p.Gln2205Lys) c.6586C>A (p.Gln2196Lys) c.6862C>A (p.Gln2288Lys) c.6859C>A (p.Gln2287Lys) n.7297C>A c.6994C>A (p.Gln2332Lys) c.6991C>A (p.Gln2331Lys) c.6973C>A (p.Gln2325Lys) c.6883C>A (p.Gln2295Lys) c.6745C>A (p.Gln2249Lys) | |
X | g.53568787G>A | CA516433675 | HUWE1 | c.6609C>T (p.Thr2203=) c.6612C>T (p.Thr2204=) c.6585C>T (p.Thr2195=) c.6861C>T (p.Thr2287=) c.6858C>T (p.Thr2286=) n.7296C>T c.6993C>T (p.Thr2331=) c.6990C>T (p.Thr2330=) c.6972C>T (p.Thr2324=) c.6882C>T (p.Thr2294=) c.6744C>T (p.Thr2248=) | COSMIC COSMIC |
X | g.53568787G>C | CA516433676 | HUWE1 | c.6609C>G (p.Thr2203=) c.6612C>G (p.Thr2204=) c.6585C>G (p.Thr2195=) c.6861C>G (p.Thr2287=) c.6858C>G (p.Thr2286=) n.7296C>G c.6993C>G (p.Thr2331=) c.6990C>G (p.Thr2330=) c.6972C>G (p.Thr2324=) c.6882C>G (p.Thr2294=) c.6744C>G (p.Thr2248=) | |
X | g.53568787G>T | CA516433677 | HUWE1 | c.6609C>A (p.Thr2203=) c.6612C>A (p.Thr2204=) c.6585C>A (p.Thr2195=) c.6861C>A (p.Thr2287=) c.6858C>A (p.Thr2286=) n.7296C>A c.6993C>A (p.Thr2331=) c.6990C>A (p.Thr2330=) c.6972C>A (p.Thr2324=) c.6882C>A (p.Thr2294=) c.6744C>A (p.Thr2248=) | |
X | g.53568788G>A | CA413163641 | HUWE1 | c.6608C>T (p.Thr2203Ile) c.6611C>T (p.Thr2204Ile) c.6584C>T (p.Thr2195Ile) c.6860C>T (p.Thr2287Ile) c.6857C>T (p.Thr2286Ile) n.7295C>T c.6992C>T (p.Thr2331Ile) c.6989C>T (p.Thr2330Ile) c.6971C>T (p.Thr2324Ile) c.6881C>T (p.Thr2294Ile) c.6743C>T (p.Thr2248Ile) | |
X | g.53568788G>C | CA413163642 | HUWE1 | c.6608C>G (p.Thr2203Ser) c.6611C>G (p.Thr2204Ser) c.6584C>G (p.Thr2195Ser) c.6860C>G (p.Thr2287Ser) c.6857C>G (p.Thr2286Ser) n.7295C>G c.6992C>G (p.Thr2331Ser) c.6989C>G (p.Thr2330Ser) c.6971C>G (p.Thr2324Ser) c.6881C>G (p.Thr2294Ser) c.6743C>G (p.Thr2248Ser) | |
X | g.53568788G= | CA2429880762 | HUWE1 | c.6608C= (p.Thr2203=) c.6611C= (p.Thr2204=) c.6584C= (p.Thr2195=) c.6860C= (p.Thr2287=) c.6857C= (p.Thr2286=) n.7295C= c.6992C= (p.Thr2331=) c.6989C= (p.Thr2330=) c.6971C= (p.Thr2324=) c.6881C= (p.Thr2294=) c.6743C= (p.Thr2248=) | |
X | g.53568788G>T | CA413163643 | HUWE1 | c.6608C>A (p.Thr2203Asn) c.6611C>A (p.Thr2204Asn) c.6584C>A (p.Thr2195Asn) c.6860C>A (p.Thr2287Asn) c.6857C>A (p.Thr2286Asn) n.7295C>A c.6992C>A (p.Thr2331Asn) c.6989C>A (p.Thr2330Asn) c.6971C>A (p.Thr2324Asn) c.6881C>A (p.Thr2294Asn) c.6743C>A (p.Thr2248Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53568789T>A | CA413163644 | HUWE1 | c.6607A>T (p.Thr2203Ser) c.6610A>T (p.Thr2204Ser) c.6583A>T (p.Thr2195Ser) c.6859A>T (p.Thr2287Ser) c.6856A>T (p.Thr2286Ser) n.7294A>T c.6991A>T (p.Thr2331Ser) c.6988A>T (p.Thr2330Ser) c.6970A>T (p.Thr2324Ser) c.6880A>T (p.Thr2294Ser) c.6742A>T (p.Thr2248Ser) | |
X | g.53568789T>C | CA413163647 | HUWE1 | c.6607A>G (p.Thr2203Ala) c.6610A>G (p.Thr2204Ala) c.6583A>G (p.Thr2195Ala) c.6859A>G (p.Thr2287Ala) c.6856A>G (p.Thr2286Ala) n.7294A>G c.6991A>G (p.Thr2331Ala) c.6988A>G (p.Thr2330Ala) c.6970A>G (p.Thr2324Ala) c.6880A>G (p.Thr2294Ala) c.6742A>G (p.Thr2248Ala) | |
X | g.53568789T>G | CA413163655 | HUWE1 | c.6607A>C (p.Thr2203Pro) c.6610A>C (p.Thr2204Pro) c.6583A>C (p.Thr2195Pro) c.6859A>C (p.Thr2287Pro) c.6856A>C (p.Thr2286Pro) n.7294A>C c.6991A>C (p.Thr2331Pro) c.6988A>C (p.Thr2330Pro) c.6970A>C (p.Thr2324Pro) c.6880A>C (p.Thr2294Pro) c.6742A>C (p.Thr2248Pro) | |
X | g.53568790C>A | CA413163656 | HUWE1 | c.6606G>T (p.Lys2202Asn) c.6609G>T (p.Lys2203Asn) c.6582G>T (p.Lys2194Asn) c.6858G>T (p.Lys2286Asn) c.6855G>T (p.Lys2285Asn) n.7293G>T c.6990G>T (p.Lys2330Asn) c.6987G>T (p.Lys2329Asn) c.6969G>T (p.Lys2323Asn) c.6879G>T (p.Lys2293Asn) c.6741G>T (p.Lys2247Asn) | |
X | g.53568790C= | CA2429880763 | HUWE1 | c.6606G= (p.Lys2202=) c.6609G= (p.Lys2203=) c.6582G= (p.Lys2194=) c.6858G= (p.Lys2286=) c.6855G= (p.Lys2285=) n.7293G= c.6990G= (p.Lys2330=) c.6987G= (p.Lys2329=) c.6969G= (p.Lys2323=) c.6879G= (p.Lys2293=) c.6741G= (p.Lys2247=) | |
X | g.53568790C>G | CA413163659 | HUWE1 | c.6606G>C (p.Lys2202Asn) c.6609G>C (p.Lys2203Asn) c.6582G>C (p.Lys2194Asn) c.6858G>C (p.Lys2286Asn) c.6855G>C (p.Lys2285Asn) n.7293G>C c.6990G>C (p.Lys2330Asn) c.6987G>C (p.Lys2329Asn) c.6969G>C (p.Lys2323Asn) c.6879G>C (p.Lys2293Asn) c.6741G>C (p.Lys2247Asn) | |
X | g.53568790C>T | CA516433680 | HUWE1 | c.6606G>A (p.Lys2202=) c.6609G>A (p.Lys2203=) c.6582G>A (p.Lys2194=) c.6858G>A (p.Lys2286=) c.6855G>A (p.Lys2285=) n.7293G>A c.6990G>A (p.Lys2330=) c.6987G>A (p.Lys2329=) c.6969G>A (p.Lys2323=) c.6879G>A (p.Lys2293=) c.6741G>A (p.Lys2247=) | dbSNP gnomAD v4 |
X | g.53568791T>A | CA413163661 | HUWE1 | c.6605A>T (p.Lys2202Met) c.6608A>T (p.Lys2203Met) c.6581A>T (p.Lys2194Met) c.6857A>T (p.Lys2286Met) c.6854A>T (p.Lys2285Met) n.7292A>T c.6989A>T (p.Lys2330Met) c.6986A>T (p.Lys2329Met) c.6968A>T (p.Lys2323Met) c.6878A>T (p.Lys2293Met) c.6740A>T (p.Lys2247Met) | |
X | g.53568791T>C | CA413163662 | HUWE1 | c.6605A>G (p.Lys2202Arg) c.6608A>G (p.Lys2203Arg) c.6581A>G (p.Lys2194Arg) c.6857A>G (p.Lys2286Arg) c.6854A>G (p.Lys2285Arg) n.7292A>G c.6989A>G (p.Lys2330Arg) c.6986A>G (p.Lys2329Arg) c.6968A>G (p.Lys2323Arg) c.6878A>G (p.Lys2293Arg) c.6740A>G (p.Lys2247Arg) | |
X | g.53568791T>G | CA413163664 | HUWE1 | c.6605A>C (p.Lys2202Thr) c.6608A>C (p.Lys2203Thr) c.6581A>C (p.Lys2194Thr) c.6857A>C (p.Lys2286Thr) c.6854A>C (p.Lys2285Thr) n.7292A>C c.6989A>C (p.Lys2330Thr) c.6986A>C (p.Lys2329Thr) c.6968A>C (p.Lys2323Thr) c.6878A>C (p.Lys2293Thr) c.6740A>C (p.Lys2247Thr) | |
X | g.53568792T>A | CA413163669 | HUWE1 | c.6604A>T (p.Lys2202Ter) c.6607A>T (p.Lys2203Ter) c.6580A>T (p.Lys2194Ter) c.6856A>T (p.Lys2286Ter) c.6853A>T (p.Lys2285Ter) n.7291A>T c.6988A>T (p.Lys2330Ter) c.6985A>T (p.Lys2329Ter) c.6967A>T (p.Lys2323Ter) c.6877A>T (p.Lys2293Ter) c.6739A>T (p.Lys2247Ter) | |
X | g.53568792T>C | CA413163672 | HUWE1 | c.6604A>G (p.Lys2202Glu) c.6607A>G (p.Lys2203Glu) c.6580A>G (p.Lys2194Glu) c.6856A>G (p.Lys2286Glu) c.6853A>G (p.Lys2285Glu) n.7291A>G c.6988A>G (p.Lys2330Glu) c.6985A>G (p.Lys2329Glu) c.6967A>G (p.Lys2323Glu) c.6877A>G (p.Lys2293Glu) c.6739A>G (p.Lys2247Glu) | |
X | g.53568792T>G | CA413163667 | HUWE1 | c.6604A>C (p.Lys2202Gln) c.6607A>C (p.Lys2203Gln) c.6580A>C (p.Lys2194Gln) c.6856A>C (p.Lys2286Gln) c.6853A>C (p.Lys2285Gln) n.7291A>C c.6988A>C (p.Lys2330Gln) c.6985A>C (p.Lys2329Gln) c.6967A>C (p.Lys2323Gln) c.6877A>C (p.Lys2293Gln) c.6739A>C (p.Lys2247Gln) | |
X | g.53568793C>A | CA516433683 | HUWE1 | c.6603G>T (p.Ala2201=) c.6606G>T (p.Ala2202=) c.6579G>T (p.Ala2193=) c.6855G>T (p.Ala2285=) c.6852G>T (p.Ala2284=) n.7290G>T c.6987G>T (p.Ala2329=) c.6984G>T (p.Ala2328=) c.6966G>T (p.Ala2322=) c.6876G>T (p.Ala2292=) c.6738G>T (p.Ala2246=) | |
X | g.53568793C= | CA2429880764 | HUWE1 | c.6603G= (p.Ala2201=) c.6606G= (p.Ala2202=) c.6579G= (p.Ala2193=) c.6855G= (p.Ala2285=) c.6852G= (p.Ala2284=) n.7290G= c.6987G= (p.Ala2329=) c.6984G= (p.Ala2328=) c.6966G= (p.Ala2322=) c.6876G= (p.Ala2292=) c.6738G= (p.Ala2246=) | |
X | g.53568793C>G | CA516433682 | HUWE1 | c.6603G>C (p.Ala2201=) c.6606G>C (p.Ala2202=) c.6579G>C (p.Ala2193=) c.6855G>C (p.Ala2285=) c.6852G>C (p.Ala2284=) n.7290G>C c.6987G>C (p.Ala2329=) c.6984G>C (p.Ala2328=) c.6966G>C (p.Ala2322=) c.6876G>C (p.Ala2292=) c.6738G>C (p.Ala2246=) | gnomAD v4 |
X | g.53568793C>T | CA10422068 | HUWE1 | c.6603G>A (p.Ala2201=) c.6606G>A (p.Ala2202=) c.6579G>A (p.Ala2193=) c.6855G>A (p.Ala2285=) c.6852G>A (p.Ala2284=) n.7290G>A c.6987G>A (p.Ala2329=) c.6984G>A (p.Ala2328=) c.6966G>A (p.Ala2322=) c.6876G>A (p.Ala2292=) c.6738G>A (p.Ala2246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53568794G>A | CA413163677 | HUWE1 | c.6602C>T (p.Ala2201Val) c.6605C>T (p.Ala2202Val) c.6578C>T (p.Ala2193Val) c.6854C>T (p.Ala2285Val) c.6851C>T (p.Ala2284Val) n.7289C>T c.6986C>T (p.Ala2329Val) c.6983C>T (p.Ala2328Val) c.6965C>T (p.Ala2322Val) c.6875C>T (p.Ala2292Val) c.6737C>T (p.Ala2246Val) | gnomAD v4 |
X | g.53568794G>C | CA413163681 | HUWE1 | c.6602C>G (p.Ala2201Gly) c.6605C>G (p.Ala2202Gly) c.6578C>G (p.Ala2193Gly) c.6854C>G (p.Ala2285Gly) c.6851C>G (p.Ala2284Gly) n.7289C>G c.6986C>G (p.Ala2329Gly) c.6983C>G (p.Ala2328Gly) c.6965C>G (p.Ala2322Gly) c.6875C>G (p.Ala2292Gly) c.6737C>G (p.Ala2246Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53568794G= | CA2429880765 | HUWE1 | c.6602C= (p.Ala2201=) c.6605C= (p.Ala2202=) c.6578C= (p.Ala2193=) c.6854C= (p.Ala2285=) c.6851C= (p.Ala2284=) n.7289C= c.6986C= (p.Ala2329=) c.6983C= (p.Ala2328=) c.6965C= (p.Ala2322=) c.6875C= (p.Ala2292=) c.6737C= (p.Ala2246=) | |
X | g.53568794G>T | CA413163684 | HUWE1 | c.6602C>A (p.Ala2201Glu) c.6605C>A (p.Ala2202Glu) c.6578C>A (p.Ala2193Glu) c.6854C>A (p.Ala2285Glu) c.6851C>A (p.Ala2284Glu) n.7289C>A c.6986C>A (p.Ala2329Glu) c.6983C>A (p.Ala2328Glu) c.6965C>A (p.Ala2322Glu) c.6875C>A (p.Ala2292Glu) c.6737C>A (p.Ala2246Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53568795C>A | CA413163686 | HUWE1 | c.6601G>T (p.Ala2201Ser) c.6604G>T (p.Ala2202Ser) c.6577G>T (p.Ala2193Ser) c.6853G>T (p.Ala2285Ser) c.6850G>T (p.Ala2284Ser) n.7288G>T c.6985G>T (p.Ala2329Ser) c.6982G>T (p.Ala2328Ser) c.6964G>T (p.Ala2322Ser) c.6874G>T (p.Ala2292Ser) c.6736G>T (p.Ala2246Ser) | |
X | g.53568795C>G | CA413163688 | HUWE1 | c.6601G>C (p.Ala2201Pro) c.6604G>C (p.Ala2202Pro) c.6577G>C (p.Ala2193Pro) c.6853G>C (p.Ala2285Pro) c.6850G>C (p.Ala2284Pro) n.7288G>C c.6985G>C (p.Ala2329Pro) c.6982G>C (p.Ala2328Pro) c.6964G>C (p.Ala2322Pro) c.6874G>C (p.Ala2292Pro) c.6736G>C (p.Ala2246Pro) | |
X | g.53568795C>T | CA413163691 | HUWE1 | c.6601G>A (p.Ala2201Thr) c.6604G>A (p.Ala2202Thr) c.6577G>A (p.Ala2193Thr) c.6853G>A (p.Ala2285Thr) c.6850G>A (p.Ala2284Thr) n.7288G>A c.6985G>A (p.Ala2329Thr) c.6982G>A (p.Ala2328Thr) c.6964G>A (p.Ala2322Thr) c.6874G>A (p.Ala2292Thr) c.6736G>A (p.Ala2246Thr) | |
X | g.53568796T>A | CA516433688 | HUWE1 | c.6600A>T (p.Thr2200=) c.6603A>T (p.Thr2201=) c.6576A>T (p.Thr2192=) c.6852A>T (p.Thr2284=) c.6849A>T (p.Thr2283=) n.7287A>T c.6984A>T (p.Thr2328=) c.6981A>T (p.Thr2327=) c.6963A>T (p.Thr2321=) c.6873A>T (p.Thr2291=) c.6735A>T (p.Thr2245=) | |
X | g.53568796T>C | CA516433691 | HUWE1 | c.6600A>G (p.Thr2200=) c.6603A>G (p.Thr2201=) c.6576A>G (p.Thr2192=) c.6852A>G (p.Thr2284=) c.6849A>G (p.Thr2283=) n.7287A>G c.6984A>G (p.Thr2328=) c.6981A>G (p.Thr2327=) c.6963A>G (p.Thr2321=) c.6873A>G (p.Thr2291=) c.6735A>G (p.Thr2245=) | |
X | g.53568796T>G | CA516433690 | HUWE1 | c.6600A>C (p.Thr2200=) c.6603A>C (p.Thr2201=) c.6576A>C (p.Thr2192=) c.6852A>C (p.Thr2284=) c.6849A>C (p.Thr2283=) n.7287A>C c.6984A>C (p.Thr2328=) c.6981A>C (p.Thr2327=) c.6963A>C (p.Thr2321=) c.6873A>C (p.Thr2291=) c.6735A>C (p.Thr2245=) | |
X | g.53568797G>A | CA413163693 | HUWE1 | c.6599C>T (p.Thr2200Ile) c.6602C>T (p.Thr2201Ile) c.6575C>T (p.Thr2192Ile) c.6851C>T (p.Thr2284Ile) c.6848C>T (p.Thr2283Ile) n.7286C>T c.6983C>T (p.Thr2328Ile) c.6980C>T (p.Thr2327Ile) c.6962C>T (p.Thr2321Ile) c.6872C>T (p.Thr2291Ile) c.6734C>T (p.Thr2245Ile) | |
X | g.53568797G>C | CA413163703 | HUWE1 | c.6599C>G (p.Thr2200Arg) c.6602C>G (p.Thr2201Arg) c.6575C>G (p.Thr2192Arg) c.6851C>G (p.Thr2284Arg) c.6848C>G (p.Thr2283Arg) n.7286C>G c.6983C>G (p.Thr2328Arg) c.6980C>G (p.Thr2327Arg) c.6962C>G (p.Thr2321Arg) c.6872C>G (p.Thr2291Arg) c.6734C>G (p.Thr2245Arg) | |
X | g.53568797G>T | CA413163706 | HUWE1 | c.6599C>A (p.Thr2200Lys) c.6602C>A (p.Thr2201Lys) c.6575C>A (p.Thr2192Lys) c.6851C>A (p.Thr2284Lys) c.6848C>A (p.Thr2283Lys) n.7286C>A c.6983C>A (p.Thr2328Lys) c.6980C>A (p.Thr2327Lys) c.6962C>A (p.Thr2321Lys) c.6872C>A (p.Thr2291Lys) c.6734C>A (p.Thr2245Lys) | |
X | g.53568798T>A | CA413163710 | HUWE1 | c.6598A>T (p.Thr2200Ser) c.6601A>T (p.Thr2201Ser) c.6574A>T (p.Thr2192Ser) c.6850A>T (p.Thr2284Ser) c.6847A>T (p.Thr2283Ser) n.7285A>T c.6982A>T (p.Thr2328Ser) c.6979A>T (p.Thr2327Ser) c.6961A>T (p.Thr2321Ser) c.6871A>T (p.Thr2291Ser) c.6733A>T (p.Thr2245Ser) | |
X | g.53568798T>C | CA10422069 | HUWE1 | c.6598A>G (p.Thr2200Ala) c.6601A>G (p.Thr2201Ala) c.6574A>G (p.Thr2192Ala) c.6850A>G (p.Thr2284Ala) c.6847A>G (p.Thr2283Ala) n.7285A>G c.6982A>G (p.Thr2328Ala) c.6979A>G (p.Thr2327Ala) c.6961A>G (p.Thr2321Ala) c.6871A>G (p.Thr2291Ala) c.6733A>G (p.Thr2245Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53568798T>G | CA413163715 | HUWE1 | c.6598A>C (p.Thr2200Pro) c.6601A>C (p.Thr2201Pro) c.6574A>C (p.Thr2192Pro) c.6850A>C (p.Thr2284Pro) c.6847A>C (p.Thr2283Pro) n.7285A>C c.6982A>C (p.Thr2328Pro) c.6979A>C (p.Thr2327Pro) c.6961A>C (p.Thr2321Pro) c.6871A>C (p.Thr2291Pro) c.6733A>C (p.Thr2245Pro) | |
X | g.53568798T= | CA2429880766 | HUWE1 | c.6598A= (p.Thr2200=) c.6601A= (p.Thr2201=) c.6574A= (p.Thr2192=) c.6850A= (p.Thr2284=) c.6847A= (p.Thr2283=) n.7285A= c.6982A= (p.Thr2328=) c.6979A= (p.Thr2327=) c.6961A= (p.Thr2321=) c.6871A= (p.Thr2291=) c.6733A= (p.Thr2245=) | |
X | g.53568799G>A | CA10422070 | HUWE1 | c.6597C>T (p.Ala2199=) c.6600C>T (p.Ala2200=) c.6573C>T (p.Ala2191=) c.6849C>T (p.Ala2283=) c.6846C>T (p.Ala2282=) n.7284C>T c.6981C>T (p.Ala2327=) c.6978C>T (p.Ala2326=) c.6960C>T (p.Ala2320=) c.6870C>T (p.Ala2290=) c.6732C>T (p.Ala2244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53568799G>C | CA516433697 | HUWE1 | c.6597C>G (p.Ala2199=) c.6600C>G (p.Ala2200=) c.6573C>G (p.Ala2191=) c.6849C>G (p.Ala2283=) c.6846C>G (p.Ala2282=) n.7284C>G c.6981C>G (p.Ala2327=) c.6978C>G (p.Ala2326=) c.6960C>G (p.Ala2320=) c.6870C>G (p.Ala2290=) c.6732C>G (p.Ala2244=) | |
X | g.53568799G= | CA2429880767 | HUWE1 | c.6597C= (p.Ala2199=) c.6600C= (p.Ala2200=) c.6573C= (p.Ala2191=) c.6849C= (p.Ala2283=) c.6846C= (p.Ala2282=) n.7284C= c.6981C= (p.Ala2327=) c.6978C= (p.Ala2326=) c.6960C= (p.Ala2320=) c.6870C= (p.Ala2290=) c.6732C= (p.Ala2244=) | |
X | g.53568799G>T | CA516433698 | HUWE1 | c.6597C>A (p.Ala2199=) c.6600C>A (p.Ala2200=) c.6573C>A (p.Ala2191=) c.6849C>A (p.Ala2283=) c.6846C>A (p.Ala2282=) n.7284C>A c.6981C>A (p.Ala2327=) c.6978C>A (p.Ala2326=) c.6960C>A (p.Ala2320=) c.6870C>A (p.Ala2290=) c.6732C>A (p.Ala2244=) | |
X | g.53568800G>A | CA413163722 | HUWE1 | c.6596C>T (p.Ala2199Val) c.6599C>T (p.Ala2200Val) c.6572C>T (p.Ala2191Val) c.6848C>T (p.Ala2283Val) c.6845C>T (p.Ala2282Val) n.7283C>T c.6980C>T (p.Ala2327Val) c.6977C>T (p.Ala2326Val) c.6959C>T (p.Ala2320Val) c.6869C>T (p.Ala2290Val) c.6731C>T (p.Ala2244Val) | |
X | g.53568800G>C | CA413163724 | HUWE1 | c.6596C>G (p.Ala2199Gly) c.6599C>G (p.Ala2200Gly) c.6572C>G (p.Ala2191Gly) c.6848C>G (p.Ala2283Gly) c.6845C>G (p.Ala2282Gly) n.7283C>G c.6980C>G (p.Ala2327Gly) c.6977C>G (p.Ala2326Gly) c.6959C>G (p.Ala2320Gly) c.6869C>G (p.Ala2290Gly) c.6731C>G (p.Ala2244Gly) | |
X | g.53568800G>T | CA413163726 | HUWE1 | c.6596C>A (p.Ala2199Asp) c.6599C>A (p.Ala2200Asp) c.6572C>A (p.Ala2191Asp) c.6848C>A (p.Ala2283Asp) c.6845C>A (p.Ala2282Asp) n.7283C>A c.6980C>A (p.Ala2327Asp) c.6977C>A (p.Ala2326Asp) c.6959C>A (p.Ala2320Asp) c.6869C>A (p.Ala2290Asp) c.6731C>A (p.Ala2244Asp) | |
X | g.53568801C>A | CA413163729 | HUWE1 | c.6595G>T (p.Ala2199Ser) c.6598G>T (p.Ala2200Ser) c.6571G>T (p.Ala2191Ser) c.6847G>T (p.Ala2283Ser) c.6844G>T (p.Ala2282Ser) n.7282G>T c.6979G>T (p.Ala2327Ser) c.6976G>T (p.Ala2326Ser) c.6958G>T (p.Ala2320Ser) c.6868G>T (p.Ala2290Ser) c.6730G>T (p.Ala2244Ser) | |
X | g.53568801C>G | CA413163731 | HUWE1 | c.6595G>C (p.Ala2199Pro) c.6598G>C (p.Ala2200Pro) c.6571G>C (p.Ala2191Pro) c.6847G>C (p.Ala2283Pro) c.6844G>C (p.Ala2282Pro) n.7282G>C c.6979G>C (p.Ala2327Pro) c.6976G>C (p.Ala2326Pro) c.6958G>C (p.Ala2320Pro) c.6868G>C (p.Ala2290Pro) c.6730G>C (p.Ala2244Pro) | |
X | g.53568801C>T | CA413163733 | HUWE1 | c.6595G>A (p.Ala2199Thr) c.6598G>A (p.Ala2200Thr) c.6571G>A (p.Ala2191Thr) c.6847G>A (p.Ala2283Thr) c.6844G>A (p.Ala2282Thr) n.7282G>A c.6979G>A (p.Ala2327Thr) c.6976G>A (p.Ala2326Thr) c.6958G>A (p.Ala2320Thr) c.6868G>A (p.Ala2290Thr) c.6730G>A (p.Ala2244Thr) | |
X | g.53568802A>C | CA413163735 | HUWE1 | c.6594T>G (p.Ser2198Arg) c.6597T>G (p.Ser2199Arg) c.6570T>G (p.Ser2190Arg) c.6846T>G (p.Ser2282Arg) c.6843T>G (p.Ser2281Arg) n.7281T>G c.6978T>G (p.Ser2326Arg) c.6975T>G (p.Ser2325Arg) c.6957T>G (p.Ser2319Arg) c.6867T>G (p.Ser2289Arg) c.6729T>G (p.Ser2243Arg) | |
X | g.53568802A>G | CA516433704 | HUWE1 | c.6594T>C (p.Ser2198=) c.6597T>C (p.Ser2199=) c.6570T>C (p.Ser2190=) c.6846T>C (p.Ser2282=) c.6843T>C (p.Ser2281=) n.7281T>C c.6978T>C (p.Ser2326=) c.6975T>C (p.Ser2325=) c.6957T>C (p.Ser2319=) c.6867T>C (p.Ser2289=) c.6729T>C (p.Ser2243=) | gnomAD v4 |
X | g.53568802A>T | CA413163737 | HUWE1 | c.6594T>A (p.Ser2198Arg) c.6597T>A (p.Ser2199Arg) c.6570T>A (p.Ser2190Arg) c.6846T>A (p.Ser2282Arg) c.6843T>A (p.Ser2281Arg) n.7281T>A c.6978T>A (p.Ser2326Arg) c.6975T>A (p.Ser2325Arg) c.6957T>A (p.Ser2319Arg) c.6867T>A (p.Ser2289Arg) c.6729T>A (p.Ser2243Arg) | |
X | g.53568803C>A | CA413163742 | HUWE1 | c.6593G>T (p.Ser2198Ile) c.6596G>T (p.Ser2199Ile) c.6569G>T (p.Ser2190Ile) c.6845G>T (p.Ser2282Ile) c.6842G>T (p.Ser2281Ile) n.7280G>T c.6977G>T (p.Ser2326Ile) c.6974G>T (p.Ser2325Ile) c.6956G>T (p.Ser2319Ile) c.6866G>T (p.Ser2289Ile) c.6728G>T (p.Ser2243Ile) | |
X | g.53568803C>G | CA413163744 | HUWE1 | c.6593G>C (p.Ser2198Thr) c.6596G>C (p.Ser2199Thr) c.6569G>C (p.Ser2190Thr) c.6845G>C (p.Ser2282Thr) c.6842G>C (p.Ser2281Thr) n.7280G>C c.6977G>C (p.Ser2326Thr) c.6974G>C (p.Ser2325Thr) c.6956G>C (p.Ser2319Thr) c.6866G>C (p.Ser2289Thr) c.6728G>C (p.Ser2243Thr) | |
X | g.53568803C>T | CA413163746 | HUWE1 | c.6593G>A (p.Ser2198Asn) c.6596G>A (p.Ser2199Asn) c.6569G>A (p.Ser2190Asn) c.6845G>A (p.Ser2282Asn) c.6842G>A (p.Ser2281Asn) n.7280G>A c.6977G>A (p.Ser2326Asn) c.6974G>A (p.Ser2325Asn) c.6956G>A (p.Ser2319Asn) c.6866G>A (p.Ser2289Asn) c.6728G>A (p.Ser2243Asn) | |
X | g.53568804T>A | CA413163749 | HUWE1 | c.6592A>T (p.Ser2198Cys) c.6595A>T (p.Ser2199Cys) c.6568A>T (p.Ser2190Cys) c.6844A>T (p.Ser2282Cys) c.6841A>T (p.Ser2281Cys) n.7279A>T c.6976A>T (p.Ser2326Cys) c.6973A>T (p.Ser2325Cys) c.6955A>T (p.Ser2319Cys) c.6865A>T (p.Ser2289Cys) c.6727A>T (p.Ser2243Cys) | |
X | g.53568804T>C | CA413163752 | HUWE1 | c.6592A>G (p.Ser2198Gly) c.6595A>G (p.Ser2199Gly) c.6568A>G (p.Ser2190Gly) c.6844A>G (p.Ser2282Gly) c.6841A>G (p.Ser2281Gly) n.7279A>G c.6976A>G (p.Ser2326Gly) c.6973A>G (p.Ser2325Gly) c.6955A>G (p.Ser2319Gly) c.6865A>G (p.Ser2289Gly) c.6727A>G (p.Ser2243Gly) | |
X | g.53568804T>G | CA413163758 | HUWE1 | c.6592A>C (p.Ser2198Arg) c.6595A>C (p.Ser2199Arg) c.6568A>C (p.Ser2190Arg) c.6844A>C (p.Ser2282Arg) c.6841A>C (p.Ser2281Arg) n.7279A>C c.6976A>C (p.Ser2326Arg) c.6973A>C (p.Ser2325Arg) c.6955A>C (p.Ser2319Arg) c.6865A>C (p.Ser2289Arg) c.6727A>C (p.Ser2243Arg) | gnomAD v4 |
X | g.53568805G>A | CA516433711 | HUWE1 | c.6591C>T (p.Ser2197=) c.6594C>T (p.Ser2198=) c.6567C>T (p.Ser2189=) c.6843C>T (p.Ser2281=) c.6840C>T (p.Ser2280=) n.7278C>T c.6975C>T (p.Ser2325=) c.6972C>T (p.Ser2324=) c.6954C>T (p.Ser2318=) c.6864C>T (p.Ser2288=) c.6726C>T (p.Ser2242=) | |
X | g.53568805G>C | CA413163779 | HUWE1 | c.6591C>G (p.Ser2197Arg) c.6594C>G (p.Ser2198Arg) c.6567C>G (p.Ser2189Arg) c.6843C>G (p.Ser2281Arg) c.6840C>G (p.Ser2280Arg) n.7278C>G c.6975C>G (p.Ser2325Arg) c.6972C>G (p.Ser2324Arg) c.6954C>G (p.Ser2318Arg) c.6864C>G (p.Ser2288Arg) c.6726C>G (p.Ser2242Arg) | |
X | g.53568805G>T | CA413163782 | HUWE1 | c.6591C>A (p.Ser2197Arg) c.6594C>A (p.Ser2198Arg) c.6567C>A (p.Ser2189Arg) c.6843C>A (p.Ser2281Arg) c.6840C>A (p.Ser2280Arg) n.7278C>A c.6975C>A (p.Ser2325Arg) c.6972C>A (p.Ser2324Arg) c.6954C>A (p.Ser2318Arg) c.6864C>A (p.Ser2288Arg) c.6726C>A (p.Ser2242Arg) | |
X | g.53568806C>A | CA413163789 | HUWE1 | c.6590G>T (p.Ser2197Ile) c.6593G>T (p.Ser2198Ile) c.6566G>T (p.Ser2189Ile) c.6842G>T (p.Ser2281Ile) c.6839G>T (p.Ser2280Ile) n.7277G>T c.6974G>T (p.Ser2325Ile) c.6971G>T (p.Ser2324Ile) c.6953G>T (p.Ser2318Ile) c.6863G>T (p.Ser2288Ile) c.6725G>T (p.Ser2242Ile) | |
X | g.53568806C>G | CA413163793 | HUWE1 | c.6590G>C (p.Ser2197Thr) c.6593G>C (p.Ser2198Thr) c.6566G>C (p.Ser2189Thr) c.6842G>C (p.Ser2281Thr) c.6839G>C (p.Ser2280Thr) n.7277G>C c.6974G>C (p.Ser2325Thr) c.6971G>C (p.Ser2324Thr) c.6953G>C (p.Ser2318Thr) c.6863G>C (p.Ser2288Thr) c.6725G>C (p.Ser2242Thr) | |
X | g.53568806C>T | CA413163791 | HUWE1 | c.6590G>A (p.Ser2197Asn) c.6593G>A (p.Ser2198Asn) c.6566G>A (p.Ser2189Asn) c.6842G>A (p.Ser2281Asn) c.6839G>A (p.Ser2280Asn) n.7277G>A c.6974G>A (p.Ser2325Asn) c.6971G>A (p.Ser2324Asn) c.6953G>A (p.Ser2318Asn) c.6863G>A (p.Ser2288Asn) c.6725G>A (p.Ser2242Asn) | |
X | g.53568807T>A | CA413163798 | HUWE1 | c.6589A>T (p.Ser2197Cys) c.6592A>T (p.Ser2198Cys) c.6565A>T (p.Ser2189Cys) c.6841A>T (p.Ser2281Cys) c.6838A>T (p.Ser2280Cys) n.7276A>T c.6973A>T (p.Ser2325Cys) c.6970A>T (p.Ser2324Cys) c.6952A>T (p.Ser2318Cys) c.6862A>T (p.Ser2288Cys) c.6724A>T (p.Ser2242Cys) | |
X | g.53568807T>C | CA413163805 | HUWE1 | c.6589A>G (p.Ser2197Gly) c.6592A>G (p.Ser2198Gly) c.6565A>G (p.Ser2189Gly) c.6841A>G (p.Ser2281Gly) c.6838A>G (p.Ser2280Gly) n.7276A>G c.6973A>G (p.Ser2325Gly) c.6970A>G (p.Ser2324Gly) c.6952A>G (p.Ser2318Gly) c.6862A>G (p.Ser2288Gly) c.6724A>G (p.Ser2242Gly) | gnomAD v4 |
X | g.53568807T>G | CA413163807 | HUWE1 | c.6589A>C (p.Ser2197Arg) c.6592A>C (p.Ser2198Arg) c.6565A>C (p.Ser2189Arg) c.6841A>C (p.Ser2281Arg) c.6838A>C (p.Ser2280Arg) n.7276A>C c.6973A>C (p.Ser2325Arg) c.6970A>C (p.Ser2324Arg) c.6952A>C (p.Ser2318Arg) c.6862A>C (p.Ser2288Arg) c.6724A>C (p.Ser2242Arg) | |
X | g.53568808G>A | CA516433718 | HUWE1 | c.6588C>T (p.Tyr2196=) c.6591C>T (p.Tyr2197=) c.6564C>T (p.Tyr2188=) c.6840C>T (p.Tyr2280=) c.6837C>T (p.Tyr2279=) n.7275C>T c.6972C>T (p.Tyr2324=) c.6969C>T (p.Tyr2323=) c.6951C>T (p.Tyr2317=) c.6861C>T (p.Tyr2287=) c.6723C>T (p.Tyr2241=) | |
X | g.53568808G>C | CA413163810 | HUWE1 | c.6588C>G (p.Tyr2196Ter) c.6591C>G (p.Tyr2197Ter) c.6564C>G (p.Tyr2188Ter) c.6840C>G (p.Tyr2280Ter) c.6837C>G (p.Tyr2279Ter) n.7275C>G c.6972C>G (p.Tyr2324Ter) c.6969C>G (p.Tyr2323Ter) c.6951C>G (p.Tyr2317Ter) c.6861C>G (p.Tyr2287Ter) c.6723C>G (p.Tyr2241Ter) | |
X | g.53568808G>T | CA413163812 | HUWE1 | c.6588C>A (p.Tyr2196Ter) c.6591C>A (p.Tyr2197Ter) c.6564C>A (p.Tyr2188Ter) c.6840C>A (p.Tyr2280Ter) c.6837C>A (p.Tyr2279Ter) n.7275C>A c.6972C>A (p.Tyr2324Ter) c.6969C>A (p.Tyr2323Ter) c.6951C>A (p.Tyr2317Ter) c.6861C>A (p.Tyr2287Ter) c.6723C>A (p.Tyr2241Ter) | |
X | g.53568809_53568814del | CA2693816111 | HUWE1 | c.6583_6588del (p.Phe2195_Tyr2196del) c.6586_6591del (p.Phe2196_Tyr2197del) c.6559_6564del (p.Phe2187_Tyr2188del) c.6835_6840del (p.Phe2279_Tyr2280del) c.6832_6837del (p.Phe2278_Tyr2279del) n.7270_7275del c.6967_6972del (p.Phe2323_Tyr2324del) c.6964_6969del (p.Phe2322_Tyr2323del) c.6946_6951del (p.Phe2316_Tyr2317del) c.6856_6861del (p.Phe2286_Tyr2287del) c.6718_6723del (p.Phe2240_Tyr2241del) | gnomAD v4 |