Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.17283204_17283223delinsGGCCCCCACTCTCACCTGCA | CA2325780412 | ANKLE1 | c.461-21_461-2delinsGGCCCCCACTCTCACCTGCA (n.461-21_461-2delinsGGCCCCCACTCTCACCTGCA) n.678-21_678-2delinsGGCCCCCACTCTCACCTGCA c.428-21_428-2delinsGGCCCCCACTCTCACCTGCA (n.428-21_428-2delinsGGCCCCCACTCTCACCTGCA) c.623-21_623-2delinsGGCCCCCACTCTCACCTGCA (n.623-21_623-2delinsGGCCCCCACTCTCACCTGCA) c.*360-21_*360-2delinsGGCCCCCACTCTCACCTGCA (n.*360-21_*360-2delinsGGCCCCCACTCTCACCTGCA) n.574-21_574-2delinsGGCCCCCACTCTCACCTGCA c.463-21_463-2delinsGGCCCCCACTCTCACCTGCA c.590-21_590-2delinsGGCCCCCACTCTCACCTGCA (n.590-21_590-2delinsGGCCCCCACTCTCACCTGCA) c.527-21_527-2delinsGGCCCCCACTCTCACCTGCA (n.527-21_527-2delinsGGCCCCCACTCTCACCTGCA) n.737-21_737-2delinsGGCCCCCACTCTCACCTGCA c.419-21_419-2delinsGGCCCCCACTCTCACCTGCA (n.419-21_419-2delinsGGCCCCCACTCTCACCTGCA) n.481-21_481-2delinsGGCCCCCACTCTCACCTGCA | |
19 | g.17283210_17283228del | CA632133548 | ANKLE1 | c.461-15_464del n.678-15_681del c.428-15_431del c.623-15_626del c.*360-15_*363del n.574-15_577del c.463-15_466del c.590-15_593del c.527-15_530del n.737-15_740del c.419-15_422del n.481-15_484del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.17283221G>A | CA9291115 | ANKLE1 | c.461-4G>A (n.461-4G>A) n.678-4G>A c.428-4G>A (n.428-4G>A) c.623-4G>A (n.623-4G>A) c.*360-4G>A (n.*360-4G>A) n.574-4G>A c.463-4G>A c.590-4G>A (n.590-4G>A) c.527-4G>A (n.527-4G>A) n.737-4G>A c.419-4G>A (n.419-4G>A) n.481-4G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283221G= | CA2325780423 | ANKLE1 | c.461-4G= (n.461-4G=) n.678-4G= c.428-4G= (n.428-4G=) c.623-4G= (n.623-4G=) c.*360-4G= (n.*360-4G=) n.574-4G= c.463-4G= c.590-4G= (n.590-4G=) c.527-4G= (n.527-4G=) n.737-4G= c.419-4G= (n.419-4G=) n.481-4G= | |
19 | g.17283222C>A | CA2583322989 | ANKLE1 | c.461-3C>A (n.461-3C>A) n.678-3C>A c.428-3C>A (n.428-3C>A) c.623-3C>A (n.623-3C>A) c.*360-3C>A (n.*360-3C>A) n.574-3C>A c.463-3C>A c.590-3C>A (n.590-3C>A) c.527-3C>A (n.527-3C>A) n.737-3C>A c.419-3C>A (n.419-3C>A) n.481-3C>A | gnomAD v4 |
19 | g.17283223A= | CA2325780424 | ANKLE1 | c.461-2A= (n.461-2A=) n.678-2A= c.428-2A= (n.428-2A=) c.623-2A= (n.623-2A=) c.*360-2A= (n.*360-2A=) n.574-2A= c.463-2A= c.590-2A= (n.590-2A=) c.527-2A= (n.527-2A=) n.737-2A= c.419-2A= (n.419-2A=) n.481-2A= | |
19 | g.17283223A>C | CA306086055 | ANKLE1 | c.461-2A>C (n.461-2A>C) n.678-2A>C c.428-2A>C (n.428-2A>C) c.623-2A>C (n.623-2A>C) c.*360-2A>C (n.*360-2A>C) n.574-2A>C c.463-2A>C c.590-2A>C (n.590-2A>C) c.527-2A>C (n.527-2A>C) n.737-2A>C c.419-2A>C (n.419-2A>C) n.481-2A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.17283223A>G | CA9291116 | ANKLE1 | c.461-2A>G (n.461-2A>G) n.678-2A>G c.428-2A>G (n.428-2A>G) c.623-2A>G (n.623-2A>G) c.*360-2A>G (n.*360-2A>G) n.574-2A>G c.463-2A>G c.590-2A>G (n.590-2A>G) c.527-2A>G (n.527-2A>G) n.737-2A>G c.419-2A>G (n.419-2A>G) n.481-2A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283223A>T | CA404744555 | ANKLE1 | c.461-2A>T (n.461-2A>T) n.678-2A>T c.428-2A>T (n.428-2A>T) c.623-2A>T (n.623-2A>T) c.*360-2A>T (n.*360-2A>T) n.574-2A>T c.463-2A>T c.590-2A>T (n.590-2A>T) c.527-2A>T (n.527-2A>T) n.737-2A>T c.419-2A>T (n.419-2A>T) n.481-2A>T | |
19 | g.17283224G>A | CA404744558 | ANKLE1 | c.461-1G>A (n.461-1G>A) n.678-1G>A c.428-1G>A (n.428-1G>A) c.623-1G>A (n.623-1G>A) c.*360-1G>A (n.*360-1G>A) n.574-1G>A c.463-1G>A c.590-1G>A (n.590-1G>A) c.527-1G>A (n.527-1G>A) n.737-1G>A c.419-1G>A (n.419-1G>A) n.481-1G>A | |
19 | g.17283224G>C | CA404744557 | ANKLE1 | c.461-1G>C (n.461-1G>C) n.678-1G>C c.428-1G>C (n.428-1G>C) c.623-1G>C (n.623-1G>C) c.*360-1G>C (n.*360-1G>C) n.574-1G>C c.463-1G>C c.590-1G>C (n.590-1G>C) c.527-1G>C (n.527-1G>C) n.737-1G>C c.419-1G>C (n.419-1G>C) n.481-1G>C | |
19 | g.17283224G>T | CA404744556 | ANKLE1 | c.461-1G>T (n.461-1G>T) n.678-1G>T c.428-1G>T (n.428-1G>T) c.623-1G>T (n.623-1G>T) c.*360-1G>T (n.*360-1G>T) n.574-1G>T c.463-1G>T c.590-1G>T (n.590-1G>T) c.527-1G>T (n.527-1G>T) n.737-1G>T c.419-1G>T (n.419-1G>T) n.481-1G>T | |
19 | g.17283227_17283233del | CA2583322990 | ANKLE1 | c.463_469del n.680_686del c.430_436del c.625_631del c.*362_*368del n.576_582del c.465_471del c.592_598del c.529_535del n.739_745del c.421_427del n.483_489del | gnomAD v4 |
19 | g.17283225C>A | CA404744559 | ANKLE1 | c.461C>A (p.Thr154Asn) n.678C>A c.428C>A (p.Thr143Asn) c.623C>A (p.Thr208Asn) c.*360C>A (n.*360C>A) n.574C>A c.463C>A c.590C>A (p.Thr197Asn) c.527C>A (p.Thr176Asn) n.737C>A c.419C>A (p.Thr140Asn) n.481C>A | gnomAD v4 |
19 | g.17283225C>G | CA404744560 | ANKLE1 | c.461C>G (p.Thr154Ser) n.678C>G c.428C>G (p.Thr143Ser) c.623C>G (p.Thr208Ser) c.*360C>G (n.*360C>G) n.574C>G c.463C>G c.590C>G (p.Thr197Ser) c.527C>G (p.Thr176Ser) n.737C>G c.419C>G (p.Thr140Ser) n.481C>G | |
19 | g.17283225C>T | CA404744561 | ANKLE1 | c.461C>T (p.Thr154Ile) n.678C>T c.428C>T (p.Thr143Ile) c.623C>T (p.Thr208Ile) c.*360C>T (n.*360C>T) n.574C>T c.463C>T c.590C>T (p.Thr197Ile) c.527C>T (p.Thr176Ile) n.737C>T c.419C>T (p.Thr140Ile) n.481C>T | |
19 | g.17283226C>A | CA506095408 | ANKLE1 | c.462C>A (p.Thr154=) n.679C>A c.429C>A (p.Thr143=) c.624C>A (p.Thr208=) c.*361C>A (n.*361C>A) n.575C>A c.464C>A c.591C>A (p.Thr197=) c.528C>A (p.Thr176=) n.738C>A c.420C>A (p.Thr140=) n.482C>A | |
19 | g.17283226C>G | CA506095411 | ANKLE1 | c.462C>G (p.Thr154=) n.679C>G c.429C>G (p.Thr143=) c.624C>G (p.Thr208=) c.*361C>G (n.*361C>G) n.575C>G c.464C>G c.591C>G (p.Thr197=) c.528C>G (p.Thr176=) n.738C>G c.420C>G (p.Thr140=) n.482C>G | |
19 | g.17283226C>T | CA506095410 | ANKLE1 | c.462C>T (p.Thr154=) n.679C>T c.429C>T (p.Thr143=) c.624C>T (p.Thr208=) c.*361C>T (n.*361C>T) n.575C>T c.464C>T c.591C>T (p.Thr197=) c.528C>T (p.Thr176=) n.738C>T c.420C>T (p.Thr140=) n.482C>T | |
19 | g.17283227C>A | CA404744562 | ANKLE1 | c.463C>A (p.Pro155Thr) n.680C>A c.430C>A (p.Pro144Thr) c.625C>A (p.Pro209Thr) c.*362C>A (n.*362C>A) n.576C>A c.465C>A c.592C>A (p.Pro198Thr) c.529C>A (p.Pro177Thr) n.739C>A c.421C>A (p.Pro141Thr) n.483C>A | |
19 | g.17283227C= | CA2325780425 | ANKLE1 | c.463C= (p.Pro155=) n.680C= c.430C= (p.Pro144=) c.625C= (p.Pro209=) c.*362C= (n.*362C=) n.576C= c.465C= c.592C= (p.Pro198=) c.529C= (p.Pro177=) n.739C= c.421C= (p.Pro141=) n.483C= | |
19 | g.17283227C>G | CA404744563 | ANKLE1 | c.463C>G (p.Pro155Ala) n.680C>G c.430C>G (p.Pro144Ala) c.625C>G (p.Pro209Ala) c.*362C>G (n.*362C>G) n.576C>G c.465C>G c.592C>G (p.Pro198Ala) c.529C>G (p.Pro177Ala) n.739C>G c.421C>G (p.Pro141Ala) n.483C>G | gnomAD v4 |
19 | g.17283227C>T | CA306086074 | ANKLE1 | c.463C>T (p.Pro155Ser) n.680C>T c.430C>T (p.Pro144Ser) c.625C>T (p.Pro209Ser) c.*362C>T (n.*362C>T) n.576C>T c.465C>T c.592C>T (p.Pro198Ser) c.529C>T (p.Pro177Ser) n.739C>T c.421C>T (p.Pro141Ser) n.483C>T | dbSNP COSMIC COSMIC COSMIC |
19 | g.17283228C>A | CA404744564 | ANKLE1 | c.464C>A (p.Pro155Gln) n.681C>A c.431C>A (p.Pro144Gln) c.626C>A (p.Pro209Gln) c.*363C>A (n.*363C>A) n.577C>A c.466C>A c.593C>A (p.Pro198Gln) c.530C>A (p.Pro177Gln) n.740C>A c.422C>A (p.Pro141Gln) n.484C>A | |
19 | g.17283228C>G | CA404744566 | ANKLE1 | c.464C>G (p.Pro155Arg) n.681C>G c.431C>G (p.Pro144Arg) c.626C>G (p.Pro209Arg) c.*363C>G (n.*363C>G) n.577C>G c.466C>G c.593C>G (p.Pro198Arg) c.530C>G (p.Pro177Arg) n.740C>G c.422C>G (p.Pro141Arg) n.484C>G | |
19 | g.17283228C>T | CA404744565 | ANKLE1 | c.464C>T (p.Pro155Leu) n.681C>T c.431C>T (p.Pro144Leu) c.626C>T (p.Pro209Leu) c.*363C>T (n.*363C>T) n.577C>T c.466C>T c.593C>T (p.Pro198Leu) c.530C>T (p.Pro177Leu) n.740C>T c.422C>T (p.Pro141Leu) n.484C>T | gnomAD v4 |
19 | g.17283229A>C | CA506095418 | ANKLE1 | c.465A>C (p.Pro155=) n.682A>C c.432A>C (p.Pro144=) c.627A>C (p.Pro209=) c.*364A>C (n.*364A>C) n.578A>C c.467A>C c.594A>C (p.Pro198=) c.531A>C (p.Pro177=) n.741A>C c.423A>C (p.Pro141=) n.485A>C | |
19 | g.17283229A>G | CA506095420 | ANKLE1 | c.465A>G (p.Pro155=) n.682A>G c.432A>G (p.Pro144=) c.627A>G (p.Pro209=) c.*364A>G (n.*364A>G) n.578A>G c.467A>G c.594A>G (p.Pro198=) c.531A>G (p.Pro177=) n.741A>G c.423A>G (p.Pro141=) n.485A>G | gnomAD v4 |
19 | g.17283229A>T | CA506095421 | ANKLE1 | c.465A>T (p.Pro155=) n.682A>T c.432A>T (p.Pro144=) c.627A>T (p.Pro209=) c.*364A>T (n.*364A>T) n.578A>T c.467A>T c.594A>T (p.Pro198=) c.531A>T (p.Pro177=) n.741A>T c.423A>T (p.Pro141=) n.485A>T | |
19 | g.17283230G>A | CA404744567 | ANKLE1 | c.466G>A (p.Gly156Ser) n.683G>A c.433G>A (p.Gly145Ser) c.628G>A (p.Gly210Ser) c.*365G>A (n.*365G>A) n.579G>A c.468G>A c.595G>A (p.Gly199Ser) c.532G>A (p.Gly178Ser) n.742G>A c.424G>A (p.Gly142Ser) n.486G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283230G>C | CA404744568 | ANKLE1 | c.466G>C (p.Gly156Arg) n.683G>C c.433G>C (p.Gly145Arg) c.628G>C (p.Gly210Arg) c.*365G>C (n.*365G>C) n.579G>C c.468G>C c.595G>C (p.Gly199Arg) c.532G>C (p.Gly178Arg) n.742G>C c.424G>C (p.Gly142Arg) n.486G>C | |
19 | g.17283230G= | CA2325780426 | ANKLE1 | c.466G= (p.Gly156=) n.683G= c.433G= (p.Gly145=) c.628G= (p.Gly210=) c.*365G= (n.*365G=) n.579G= c.468G= c.595G= (p.Gly199=) c.532G= (p.Gly178=) n.742G= c.424G= (p.Gly142=) n.486G= | |
19 | g.17283230G>T | CA404744569 | ANKLE1 | c.466G>T (p.Gly156Cys) n.683G>T c.433G>T (p.Gly145Cys) c.628G>T (p.Gly210Cys) c.*365G>T (n.*365G>T) n.579G>T c.468G>T c.595G>T (p.Gly199Cys) c.532G>T (p.Gly178Cys) n.742G>T c.424G>T (p.Gly142Cys) n.486G>T | |
19 | g.17283231G>A | CA404744570 | ANKLE1 | c.467G>A (p.Gly156Asp) n.684G>A c.434G>A (p.Gly145Asp) c.629G>A (p.Gly210Asp) c.*366G>A (n.*366G>A) n.580G>A c.469G>A c.596G>A (p.Gly199Asp) c.533G>A (p.Gly178Asp) n.743G>A c.425G>A (p.Gly142Asp) n.487G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283231G>C | CA404744571 | ANKLE1 | c.467G>C (p.Gly156Ala) n.684G>C c.434G>C (p.Gly145Ala) c.629G>C (p.Gly210Ala) c.*366G>C (n.*366G>C) n.580G>C c.469G>C c.596G>C (p.Gly199Ala) c.533G>C (p.Gly178Ala) n.743G>C c.425G>C (p.Gly142Ala) n.487G>C | |
19 | g.17283231G= | CA2325780427 | ANKLE1 | c.467G= (p.Gly156=) n.684G= c.434G= (p.Gly145=) c.629G= (p.Gly210=) c.*366G= (n.*366G=) n.580G= c.469G= c.596G= (p.Gly199=) c.533G= (p.Gly178=) n.743G= c.425G= (p.Gly142=) n.487G= | |
19 | g.17283231G>T | CA404744572 | ANKLE1 | c.467G>T (p.Gly156Val) n.684G>T c.434G>T (p.Gly145Val) c.629G>T (p.Gly210Val) c.*366G>T (n.*366G>T) n.580G>T c.469G>T c.596G>T (p.Gly199Val) c.533G>T (p.Gly178Val) n.743G>T c.425G>T (p.Gly142Val) n.487G>T | |
19 | g.17283232C>A | CA506095429 | ANKLE1 | c.468C>A (p.Gly156=) n.685C>A c.435C>A (p.Gly145=) c.630C>A (p.Gly210=) c.*367C>A (n.*367C>A) n.581C>A c.470C>A c.597C>A (p.Gly199=) c.534C>A (p.Gly178=) n.744C>A c.426C>A (p.Gly142=) n.488C>A | |
19 | g.17283232C>G | CA506095431 | ANKLE1 | c.468C>G (p.Gly156=) n.685C>G c.435C>G (p.Gly145=) c.630C>G (p.Gly210=) c.*367C>G (n.*367C>G) n.581C>G c.470C>G c.597C>G (p.Gly199=) c.534C>G (p.Gly178=) n.744C>G c.426C>G (p.Gly142=) n.488C>G | |
19 | g.17283232C>T | CA506095434 | ANKLE1 | c.468C>T (p.Gly156=) n.685C>T c.435C>T (p.Gly145=) c.630C>T (p.Gly210=) c.*367C>T (n.*367C>T) n.581C>T c.470C>T c.597C>T (p.Gly199=) c.534C>T (p.Gly178=) n.744C>T c.426C>T (p.Gly142=) n.488C>T | gnomAD v4 |
19 | g.17283233C>A | CA404744573 | ANKLE1 | c.469C>A (p.Leu157Ile) n.686C>A c.436C>A (p.Leu146Ile) c.631C>A (p.Leu211Ile) c.*368C>A (n.*368C>A) n.582C>A c.471C>A c.598C>A (p.Leu200Ile) c.535C>A (p.Leu179Ile) n.745C>A c.427C>A (p.Leu143Ile) n.489C>A | gnomAD v4 |
19 | g.17283233C>G | CA404744574 | ANKLE1 | c.469C>G (p.Leu157Val) n.686C>G c.436C>G (p.Leu146Val) c.631C>G (p.Leu211Val) c.*368C>G (n.*368C>G) n.582C>G c.471C>G c.598C>G (p.Leu200Val) c.535C>G (p.Leu179Val) n.745C>G c.427C>G (p.Leu143Val) n.489C>G | |
19 | g.17283233C>T | CA404744575 | ANKLE1 | c.469C>T (p.Leu157Phe) n.686C>T c.436C>T (p.Leu146Phe) c.631C>T (p.Leu211Phe) c.*368C>T (n.*368C>T) n.582C>T c.471C>T c.598C>T (p.Leu200Phe) c.535C>T (p.Leu179Phe) n.745C>T c.427C>T (p.Leu143Phe) n.489C>T | |
19 | g.17283234T>A | CA404744576 | ANKLE1 | c.470T>A (p.Leu157His) n.687T>A c.437T>A (p.Leu146His) c.632T>A (p.Leu211His) c.*369T>A (n.*369T>A) n.583T>A c.472T>A c.599T>A (p.Leu200His) c.536T>A (p.Leu179His) n.746T>A c.428T>A (p.Leu143His) n.490T>A | |
19 | g.17283234T>C | CA404744577 | ANKLE1 | c.470T>C (p.Leu157Pro) n.687T>C c.437T>C (p.Leu146Pro) c.632T>C (p.Leu211Pro) c.*369T>C (n.*369T>C) n.583T>C c.472T>C c.599T>C (p.Leu200Pro) c.536T>C (p.Leu179Pro) n.746T>C c.428T>C (p.Leu143Pro) n.490T>C | |
19 | g.17283234T>G | CA404744578 | ANKLE1 | c.470T>G (p.Leu157Arg) n.687T>G c.437T>G (p.Leu146Arg) c.632T>G (p.Leu211Arg) c.*369T>G (n.*369T>G) n.583T>G c.472T>G c.599T>G (p.Leu200Arg) c.536T>G (p.Leu179Arg) n.746T>G c.428T>G (p.Leu143Arg) n.490T>G | gnomAD v4 |
19 | g.17283235C>A | CA506095441 | ANKLE1 | c.471C>A (p.Leu157=) n.688C>A c.438C>A (p.Leu146=) c.633C>A (p.Leu211=) c.*370C>A (n.*370C>A) n.584C>A c.473C>A c.600C>A (p.Leu200=) c.537C>A (p.Leu179=) n.747C>A c.429C>A (p.Leu143=) n.491C>A | |
19 | g.17283235C= | CA2325780428 | ANKLE1 | c.471C= (p.Leu157=) n.688C= c.438C= (p.Leu146=) c.633C= (p.Leu211=) c.*370C= (n.*370C=) n.584C= c.473C= c.600C= (p.Leu200=) c.537C= (p.Leu179=) n.747C= c.429C= (p.Leu143=) n.491C= | |
19 | g.17283235C>G | CA506095442 | ANKLE1 | c.471C>G (p.Leu157=) n.688C>G c.438C>G (p.Leu146=) c.633C>G (p.Leu211=) c.*370C>G (n.*370C>G) n.584C>G c.473C>G c.600C>G (p.Leu200=) c.537C>G (p.Leu179=) n.747C>G c.429C>G (p.Leu143=) n.491C>G | |
19 | g.17283235C>T | CA306086080 | ANKLE1 | c.471C>T (p.Leu157=) n.688C>T c.438C>T (p.Leu146=) c.633C>T (p.Leu211=) c.*370C>T (n.*370C>T) n.584C>T c.473C>T c.600C>T (p.Leu200=) c.537C>T (p.Leu179=) n.747C>T c.429C>T (p.Leu143=) n.491C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283236T>A | CA404744579 | ANKLE1 | c.472T>A (p.Ser158Thr) n.689T>A c.439T>A (p.Ser147Thr) c.634T>A (p.Ser212Thr) c.*371T>A (n.*371T>A) n.585T>A c.474T>A c.601T>A (p.Ser201Thr) c.538T>A (p.Ser180Thr) n.748T>A c.430T>A (p.Ser144Thr) n.492T>A | |
19 | g.17283236T>C | CA404744581 | ANKLE1 | c.472T>C (p.Ser158Pro) n.689T>C c.439T>C (p.Ser147Pro) c.634T>C (p.Ser212Pro) c.*371T>C (n.*371T>C) n.585T>C c.474T>C c.601T>C (p.Ser201Pro) c.538T>C (p.Ser180Pro) n.748T>C c.430T>C (p.Ser144Pro) n.492T>C | |
19 | g.17283236T>G | CA404744580 | ANKLE1 | c.472T>G (p.Ser158Ala) n.689T>G c.439T>G (p.Ser147Ala) c.634T>G (p.Ser212Ala) c.*371T>G (n.*371T>G) n.585T>G c.474T>G c.601T>G (p.Ser201Ala) c.538T>G (p.Ser180Ala) n.748T>G c.430T>G (p.Ser144Ala) n.492T>G | |
19 | g.17283237C>A | CA404744582 | ANKLE1 | c.473C>A (p.Ser158Tyr) n.690C>A c.440C>A (p.Ser147Tyr) c.635C>A (p.Ser212Tyr) c.*372C>A (n.*372C>A) n.586C>A c.475C>A c.602C>A (p.Ser201Tyr) c.539C>A (p.Ser180Tyr) n.749C>A c.431C>A (p.Ser144Tyr) n.493C>A | |
19 | g.17283237C>G | CA404744583 | ANKLE1 | c.473C>G (p.Ser158Cys) n.690C>G c.440C>G (p.Ser147Cys) c.635C>G (p.Ser212Cys) c.*372C>G (n.*372C>G) n.586C>G c.475C>G c.602C>G (p.Ser201Cys) c.539C>G (p.Ser180Cys) n.749C>G c.431C>G (p.Ser144Cys) n.493C>G | |
19 | g.17283237C>T | CA404744584 | ANKLE1 | c.473C>T (p.Ser158Phe) n.690C>T c.440C>T (p.Ser147Phe) c.635C>T (p.Ser212Phe) c.*372C>T (n.*372C>T) n.586C>T c.475C>T c.602C>T (p.Ser201Phe) c.539C>T (p.Ser180Phe) n.749C>T c.431C>T (p.Ser144Phe) n.493C>T | gnomAD v4 |
19 | g.17283238T>A | CA506095449 | ANKLE1 | c.474T>A (p.Ser158=) n.691T>A c.441T>A (p.Ser147=) c.636T>A (p.Ser212=) c.*373T>A (n.*373T>A) n.587T>A c.476T>A c.603T>A (p.Ser201=) c.540T>A (p.Ser180=) n.750T>A c.432T>A (p.Ser144=) n.494T>A | gnomAD v4 |
19 | g.17283238T>C | CA506095450 | ANKLE1 | c.474T>C (p.Ser158=) n.691T>C c.441T>C (p.Ser147=) c.636T>C (p.Ser212=) c.*373T>C (n.*373T>C) n.587T>C c.476T>C c.603T>C (p.Ser201=) c.540T>C (p.Ser180=) n.750T>C c.432T>C (p.Ser144=) n.494T>C | |
19 | g.17283238T>G | CA506095451 | ANKLE1 | c.474T>G (p.Ser158=) n.691T>G c.441T>G (p.Ser147=) c.636T>G (p.Ser212=) c.*373T>G (n.*373T>G) n.587T>G c.476T>G c.603T>G (p.Ser201=) c.540T>G (p.Ser180=) n.750T>G c.432T>G (p.Ser144=) n.494T>G | |
19 | g.17283239G>A | CA404744585 | ANKLE1 | c.475G>A (p.Gly159Arg) n.692G>A c.442G>A (p.Gly148Arg) c.637G>A (p.Gly213Arg) c.*374G>A (n.*374G>A) n.588G>A c.477G>A c.604G>A (p.Gly202Arg) c.541G>A (p.Gly181Arg) n.751G>A c.433G>A (p.Gly145Arg) n.495G>A | |
19 | g.17283239G>C | CA404744586 | ANKLE1 | c.475G>C (p.Gly159Arg) n.692G>C c.442G>C (p.Gly148Arg) c.637G>C (p.Gly213Arg) c.*374G>C (n.*374G>C) n.588G>C c.477G>C c.604G>C (p.Gly202Arg) c.541G>C (p.Gly181Arg) n.751G>C c.433G>C (p.Gly145Arg) n.495G>C | |
19 | g.17283239G>T | CA404744587 | ANKLE1 | c.475G>T (p.Gly159Ter) n.692G>T c.442G>T (p.Gly148Ter) c.637G>T (p.Gly213Ter) c.*374G>T (n.*374G>T) n.588G>T c.477G>T c.604G>T (p.Gly202Ter) c.541G>T (p.Gly181Ter) n.751G>T c.433G>T (p.Gly145Ter) n.495G>T | |
19 | g.17283240G>A | CA404744588 | ANKLE1 | c.476G>A (p.Gly159Glu) n.693G>A c.443G>A (p.Gly148Glu) c.638G>A (p.Gly213Glu) c.*375G>A (n.*375G>A) n.589G>A c.478G>A c.605G>A (p.Gly202Glu) c.542G>A (p.Gly181Glu) n.752G>A c.434G>A (p.Gly145Glu) n.496G>A | |
19 | g.17283240G>C | CA404744589 | ANKLE1 | c.476G>C (p.Gly159Ala) n.693G>C c.443G>C (p.Gly148Ala) c.638G>C (p.Gly213Ala) c.*375G>C (n.*375G>C) n.589G>C c.478G>C c.605G>C (p.Gly202Ala) c.542G>C (p.Gly181Ala) n.752G>C c.434G>C (p.Gly145Ala) n.496G>C | |
19 | g.17283240G>T | CA404744590 | ANKLE1 | c.476G>T (p.Gly159Val) n.693G>T c.443G>T (p.Gly148Val) c.638G>T (p.Gly213Val) c.*375G>T (n.*375G>T) n.589G>T c.478G>T c.605G>T (p.Gly202Val) c.542G>T (p.Gly181Val) n.752G>T c.434G>T (p.Gly145Val) n.496G>T | |
19 | g.17283241A= | CA2325780429 | ANKLE1 | c.477A= (p.Gly159=) n.694A= c.444A= (p.Gly148=) c.639A= (p.Gly213=) c.*376A= (n.*376A=) n.590A= c.479A= c.606A= (p.Gly202=) c.543A= (p.Gly181=) n.753A= c.435A= (p.Gly145=) n.497A= | |
19 | g.17283241A>C | CA506095457 | ANKLE1 | c.477A>C (p.Gly159=) n.694A>C c.444A>C (p.Gly148=) c.639A>C (p.Gly213=) c.*376A>C (n.*376A>C) n.590A>C c.479A>C c.606A>C (p.Gly202=) c.543A>C (p.Gly181=) n.753A>C c.435A>C (p.Gly145=) n.497A>C | |
19 | g.17283241A>G | CA506095460 | ANKLE1 | c.477A>G (p.Gly159=) n.694A>G c.444A>G (p.Gly148=) c.639A>G (p.Gly213=) c.*376A>G (n.*376A>G) n.590A>G c.479A>G c.606A>G (p.Gly202=) c.543A>G (p.Gly181=) n.753A>G c.435A>G (p.Gly145=) n.497A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283241A>T | CA506095458 | ANKLE1 | c.477A>T (p.Gly159=) n.694A>T c.444A>T (p.Gly148=) c.639A>T (p.Gly213=) c.*376A>T (n.*376A>T) n.590A>T c.479A>T c.606A>T (p.Gly202=) c.543A>T (p.Gly181=) n.753A>T c.435A>T (p.Gly145=) n.497A>T | |
19 | g.17283242C>A | CA404744591 | ANKLE1 | c.478C>A (p.Pro160Thr) n.695C>A c.445C>A (p.Pro149Thr) c.640C>A (p.Pro214Thr) c.*377C>A (n.*377C>A) n.591C>A c.480C>A c.607C>A (p.Pro203Thr) c.544C>A (p.Pro182Thr) n.754C>A c.436C>A (p.Pro146Thr) n.498C>A | |
19 | g.17283242C= | CA2325780430 | ANKLE1 | c.478C= (p.Pro160=) n.695C= c.445C= (p.Pro149=) c.640C= (p.Pro214=) c.*377C= (n.*377C=) n.591C= c.480C= c.607C= (p.Pro203=) c.544C= (p.Pro182=) n.754C= c.436C= (p.Pro146=) n.498C= | |
19 | g.17283242C>G | CA404744592 | ANKLE1 | c.478C>G (p.Pro160Ala) n.695C>G c.445C>G (p.Pro149Ala) c.640C>G (p.Pro214Ala) c.*377C>G (n.*377C>G) n.591C>G c.480C>G c.607C>G (p.Pro203Ala) c.544C>G (p.Pro182Ala) n.754C>G c.436C>G (p.Pro146Ala) n.498C>G | |
19 | g.17283242C>T | CA9291117 | ANKLE1 | c.478C>T (p.Pro160Ser) n.695C>T c.445C>T (p.Pro149Ser) c.640C>T (p.Pro214Ser) c.*377C>T (n.*377C>T) n.591C>T c.480C>T c.607C>T (p.Pro203Ser) c.544C>T (p.Pro182Ser) n.754C>T c.436C>T (p.Pro146Ser) n.498C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283243dup | CA2842410906 | ANKLE1 | c.479dup (p.Thr161TyrfsTer3) n.696dup c.446dup (p.Thr150TyrfsTer3) c.641dup (p.Thr215TyrfsTer3) c.*378dup (n.*378dup) n.592dup c.481dup c.608dup (p.Thr204TyrfsTer3) c.545dup (p.Thr183TyrfsTer3) n.755dup c.437dup (p.Thr147TyrfsTer3) n.499dup | |
19 | g.17283243C>A | CA404744595 | ANKLE1 | c.479C>A (p.Pro160His) n.696C>A c.446C>A (p.Pro149His) c.641C>A (p.Pro214His) c.*378C>A (n.*378C>A) n.592C>A c.481C>A c.608C>A (p.Pro203His) c.545C>A (p.Pro182His) n.755C>A c.437C>A (p.Pro146His) n.499C>A | |
19 | g.17283243C>G | CA404744594 | ANKLE1 | c.479C>G (p.Pro160Arg) n.696C>G c.446C>G (p.Pro149Arg) c.641C>G (p.Pro214Arg) c.*378C>G (n.*378C>G) n.592C>G c.481C>G c.608C>G (p.Pro203Arg) c.545C>G (p.Pro182Arg) n.755C>G c.437C>G (p.Pro146Arg) n.499C>G | gnomAD v4 |
19 | g.17283243C>T | CA404744593 | ANKLE1 | c.479C>T (p.Pro160Leu) n.696C>T c.446C>T (p.Pro149Leu) c.641C>T (p.Pro214Leu) c.*378C>T (n.*378C>T) n.592C>T c.481C>T c.608C>T (p.Pro203Leu) c.545C>T (p.Pro182Leu) n.755C>T c.437C>T (p.Pro146Leu) n.499C>T | |
19 | g.17283244T>A | CA506095469 | ANKLE1 | c.480T>A (p.Pro160=) n.697T>A c.447T>A (p.Pro149=) c.642T>A (p.Pro214=) c.*379T>A (n.*379T>A) n.593T>A c.482T>A c.609T>A (p.Pro203=) c.546T>A (p.Pro182=) n.756T>A c.438T>A (p.Pro146=) n.500T>A | |
19 | g.17283244T>C | CA506095470 | ANKLE1 | c.480T>C (p.Pro160=) n.697T>C c.447T>C (p.Pro149=) c.642T>C (p.Pro214=) c.*379T>C (n.*379T>C) n.593T>C c.482T>C c.609T>C (p.Pro203=) c.546T>C (p.Pro182=) n.756T>C c.438T>C (p.Pro146=) n.500T>C | |
19 | g.17283244T>G | CA506095472 | ANKLE1 | c.480T>G (p.Pro160=) n.697T>G c.447T>G (p.Pro149=) c.642T>G (p.Pro214=) c.*379T>G (n.*379T>G) n.593T>G c.482T>G c.609T>G (p.Pro203=) c.546T>G (p.Pro182=) n.756T>G c.438T>G (p.Pro146=) n.500T>G | |
19 | g.17283245A= | CA2325780431 | ANKLE1 | c.481A= (p.Thr161=) n.698A= c.448A= (p.Thr150=) c.643A= (p.Thr215=) c.*380A= (n.*380A=) n.594A= c.483A= c.610A= (p.Thr204=) c.547A= (p.Thr183=) n.757A= c.439A= (p.Thr147=) n.501A= | |
19 | g.17283245A>C | CA404744596 | ANKLE1 | c.481A>C (p.Thr161Pro) n.698A>C c.448A>C (p.Thr150Pro) c.643A>C (p.Thr215Pro) c.*380A>C (n.*380A>C) n.594A>C c.483A>C c.610A>C (p.Thr204Pro) c.547A>C (p.Thr183Pro) n.757A>C c.439A>C (p.Thr147Pro) n.501A>C | dbSNP |
19 | g.17283245A>G | CA404744597 | ANKLE1 | c.481A>G (p.Thr161Ala) n.698A>G c.448A>G (p.Thr150Ala) c.643A>G (p.Thr215Ala) c.*380A>G (n.*380A>G) n.594A>G c.483A>G c.610A>G (p.Thr204Ala) c.547A>G (p.Thr183Ala) n.757A>G c.439A>G (p.Thr147Ala) n.501A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.17283245A>T | CA404744598 | ANKLE1 | c.481A>T (p.Thr161Ser) n.698A>T c.448A>T (p.Thr150Ser) c.643A>T (p.Thr215Ser) c.*380A>T (n.*380A>T) n.594A>T c.483A>T c.610A>T (p.Thr204Ser) c.547A>T (p.Thr183Ser) n.757A>T c.439A>T (p.Thr147Ser) n.501A>T | |
19 | g.17283246C>A | CA404744599 | ANKLE1 | c.482C>A (p.Thr161Asn) n.699C>A c.449C>A (p.Thr150Asn) c.644C>A (p.Thr215Asn) c.*381C>A (n.*381C>A) n.595C>A c.484C>A c.611C>A (p.Thr204Asn) c.548C>A (p.Thr183Asn) n.758C>A c.440C>A (p.Thr147Asn) n.502C>A | |
19 | g.17283246C= | CA2325780432 | ANKLE1 | c.482C= (p.Thr161=) n.699C= c.449C= (p.Thr150=) c.644C= (p.Thr215=) c.*381C= (n.*381C=) n.595C= c.484C= c.611C= (p.Thr204=) c.548C= (p.Thr183=) n.758C= c.440C= (p.Thr147=) n.502C= | |
19 | g.17283246C>G | CA404744600 | ANKLE1 | c.482C>G (p.Thr161Ser) n.699C>G c.449C>G (p.Thr150Ser) c.644C>G (p.Thr215Ser) c.*381C>G (n.*381C>G) n.595C>G c.484C>G c.611C>G (p.Thr204Ser) c.548C>G (p.Thr183Ser) n.758C>G c.440C>G (p.Thr147Ser) n.502C>G | dbSNP |
19 | g.17283246C>T | CA404744601 | ANKLE1 | c.482C>T (p.Thr161Ile) n.699C>T c.449C>T (p.Thr150Ile) c.644C>T (p.Thr215Ile) c.*381C>T (n.*381C>T) n.595C>T c.484C>T c.611C>T (p.Thr204Ile) c.548C>T (p.Thr183Ile) n.758C>T c.440C>T (p.Thr147Ile) n.502C>T | |
19 | g.17283247C>A | CA506095479 | ANKLE1 | c.483C>A (p.Thr161=) n.700C>A c.450C>A (p.Thr150=) c.645C>A (p.Thr215=) c.*382C>A (n.*382C>A) n.596C>A c.485C>A c.612C>A (p.Thr204=) c.549C>A (p.Thr183=) n.759C>A c.441C>A (p.Thr147=) n.503C>A | |
19 | g.17283247C= | CA2325780433 | ANKLE1 | c.483C= (p.Thr161=) n.700C= c.450C= (p.Thr150=) c.645C= (p.Thr215=) c.*382C= (n.*382C=) n.596C= c.485C= c.612C= (p.Thr204=) c.549C= (p.Thr183=) n.759C= c.441C= (p.Thr147=) n.503C= | |
19 | g.17283247C>G | CA506095481 | ANKLE1 | c.483C>G (p.Thr161=) n.700C>G c.450C>G (p.Thr150=) c.645C>G (p.Thr215=) c.*382C>G (n.*382C>G) n.596C>G c.485C>G c.612C>G (p.Thr204=) c.549C>G (p.Thr183=) n.759C>G c.441C>G (p.Thr147=) n.503C>G | |
19 | g.17283247C>T | CA9291118 | ANKLE1 | c.483C>T (p.Thr161=) n.700C>T c.450C>T (p.Thr150=) c.645C>T (p.Thr215=) c.*382C>T (n.*382C>T) n.596C>T c.485C>T c.612C>T (p.Thr204=) c.549C>T (p.Thr183=) n.759C>T c.441C>T (p.Thr147=) n.503C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283248G>A | CA9291120 | ANKLE1 | c.484G>A (p.Asp162Asn) n.701G>A c.451G>A (p.Asp151Asn) c.646G>A (p.Asp216Asn) c.*383G>A (n.*383G>A) n.597G>A c.486G>A c.613G>A (p.Asp205Asn) c.550G>A (p.Asp184Asn) n.760G>A c.442G>A (p.Asp148Asn) n.504G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283248G>C | CA9291119 | ANKLE1 | c.484G>C (p.Asp162His) n.701G>C c.451G>C (p.Asp151His) c.646G>C (p.Asp216His) c.*383G>C (n.*383G>C) n.597G>C c.486G>C c.613G>C (p.Asp205His) c.550G>C (p.Asp184His) n.760G>C c.442G>C (p.Asp148His) n.504G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283248G= | CA2325780434 | ANKLE1 | c.484G= (p.Asp162=) n.701G= c.451G= (p.Asp151=) c.646G= (p.Asp216=) c.*383G= (n.*383G=) n.597G= c.486G= c.613G= (p.Asp205=) c.550G= (p.Asp184=) n.760G= c.442G= (p.Asp148=) n.504G= | |
19 | g.17283248G>T | CA404744602 | ANKLE1 | c.484G>T (p.Asp162Tyr) n.701G>T c.451G>T (p.Asp151Tyr) c.646G>T (p.Asp216Tyr) c.*383G>T (n.*383G>T) n.597G>T c.486G>T c.613G>T (p.Asp205Tyr) c.550G>T (p.Asp184Tyr) n.760G>T c.442G>T (p.Asp148Tyr) n.504G>T | |
19 | g.17283249A>C | CA404744603 | ANKLE1 | c.485A>C (p.Asp162Ala) n.702A>C c.452A>C (p.Asp151Ala) c.647A>C (p.Asp216Ala) c.*384A>C (n.*384A>C) n.598A>C c.487A>C c.614A>C (p.Asp205Ala) c.551A>C (p.Asp184Ala) n.761A>C c.443A>C (p.Asp148Ala) n.505A>C | |
19 | g.17283249A>G | CA404744604 | ANKLE1 | c.485A>G (p.Asp162Gly) n.702A>G c.452A>G (p.Asp151Gly) c.647A>G (p.Asp216Gly) c.*384A>G (n.*384A>G) n.598A>G c.487A>G c.614A>G (p.Asp205Gly) c.551A>G (p.Asp184Gly) n.761A>G c.443A>G (p.Asp148Gly) n.505A>G | |
19 | g.17283249A>T | CA404744605 | ANKLE1 | c.485A>T (p.Asp162Val) n.702A>T c.452A>T (p.Asp151Val) c.647A>T (p.Asp216Val) c.*384A>T (n.*384A>T) n.598A>T c.487A>T c.614A>T (p.Asp205Val) c.551A>T (p.Asp184Val) n.761A>T c.443A>T (p.Asp148Val) n.505A>T | |
19 | g.17283250T>A | CA404744606 | ANKLE1 | c.486T>A (p.Asp162Glu) n.703T>A c.453T>A (p.Asp151Glu) c.648T>A (p.Asp216Glu) c.*385T>A (n.*385T>A) n.599T>A c.488T>A c.615T>A (p.Asp205Glu) c.552T>A (p.Asp184Glu) n.762T>A c.444T>A (p.Asp148Glu) n.506T>A | gnomAD v4 |
19 | g.17283250T>C | CA506095487 | ANKLE1 | c.486T>C (p.Asp162=) n.703T>C c.453T>C (p.Asp151=) c.648T>C (p.Asp216=) c.*385T>C (n.*385T>C) n.599T>C c.488T>C c.615T>C (p.Asp205=) c.552T>C (p.Asp184=) n.762T>C c.444T>C (p.Asp148=) n.506T>C | gnomAD v4 |
19 | g.17283250T>G | CA404744607 | ANKLE1 | c.486T>G (p.Asp162Glu) n.703T>G c.453T>G (p.Asp151Glu) c.648T>G (p.Asp216Glu) c.*385T>G (n.*385T>G) n.599T>G c.488T>G c.615T>G (p.Asp205Glu) c.552T>G (p.Asp184Glu) n.762T>G c.444T>G (p.Asp148Glu) n.506T>G | gnomAD v4 |
19 | g.17283251G>A | CA404744608 | ANKLE1 | c.487G>A (p.Glu163Lys) n.704G>A c.454G>A (p.Glu152Lys) c.649G>A (p.Glu217Lys) c.*386G>A (n.*386G>A) n.600G>A c.489G>A c.616G>A (p.Glu206Lys) c.553G>A (p.Glu185Lys) n.763G>A c.445G>A (p.Glu149Lys) n.507G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.17283251G>C | CA404744610 | ANKLE1 | c.487G>C (p.Glu163Gln) n.704G>C c.454G>C (p.Glu152Gln) c.649G>C (p.Glu217Gln) c.*386G>C (n.*386G>C) n.600G>C c.489G>C c.616G>C (p.Glu206Gln) c.553G>C (p.Glu185Gln) n.763G>C c.445G>C (p.Glu149Gln) n.507G>C | |
19 | g.17283251G= | CA2325780435 | ANKLE1 | c.487G= (p.Glu163=) n.704G= c.454G= (p.Glu152=) c.649G= (p.Glu217=) c.*386G= (n.*386G=) n.600G= c.489G= c.616G= (p.Glu206=) c.553G= (p.Glu185=) n.763G= c.445G= (p.Glu149=) n.507G= | |
19 | g.17283251G>T | CA404744609 | ANKLE1 | c.487G>T (p.Glu163Ter) n.704G>T c.454G>T (p.Glu152Ter) c.649G>T (p.Glu217Ter) c.*386G>T (n.*386G>T) n.600G>T c.489G>T c.616G>T (p.Glu206Ter) c.553G>T (p.Glu185Ter) n.763G>T c.445G>T (p.Glu149Ter) n.507G>T | |
19 | g.17283252A>C | CA404744611 | ANKLE1 | c.488A>C (p.Glu163Ala) n.705A>C c.455A>C (p.Glu152Ala) c.650A>C (p.Glu217Ala) c.*387A>C (n.*387A>C) n.601A>C c.490A>C c.617A>C (p.Glu206Ala) c.554A>C (p.Glu185Ala) n.764A>C c.446A>C (p.Glu149Ala) n.508A>C | |
19 | g.17283252A>G | CA404744613 | ANKLE1 | c.488A>G (p.Glu163Gly) n.705A>G c.455A>G (p.Glu152Gly) c.650A>G (p.Glu217Gly) c.*387A>G (n.*387A>G) n.601A>G c.490A>G c.617A>G (p.Glu206Gly) c.554A>G (p.Glu185Gly) n.764A>G c.446A>G (p.Glu149Gly) n.508A>G | |
19 | g.17283252A>T | CA404744612 | ANKLE1 | c.488A>T (p.Glu163Val) n.705A>T c.455A>T (p.Glu152Val) c.650A>T (p.Glu217Val) c.*387A>T (n.*387A>T) n.601A>T c.490A>T c.617A>T (p.Glu206Val) c.554A>T (p.Glu185Val) n.764A>T c.446A>T (p.Glu149Val) n.508A>T | |
19 | g.17283253G>A | CA506095492 | ANKLE1 | c.489G>A (p.Glu163=) n.706G>A c.456G>A (p.Glu152=) c.651G>A (p.Glu217=) c.*388G>A (n.*388G>A) n.602G>A c.491G>A c.618G>A (p.Glu206=) c.555G>A (p.Glu185=) n.765G>A c.447G>A (p.Glu149=) n.509G>A | gnomAD v4 |
19 | g.17283253G>C | CA404744614 | ANKLE1 | c.489G>C (p.Glu163Asp) n.706G>C c.456G>C (p.Glu152Asp) c.651G>C (p.Glu217Asp) c.*388G>C (n.*388G>C) n.602G>C c.491G>C c.618G>C (p.Glu206Asp) c.555G>C (p.Glu185Asp) n.765G>C c.447G>C (p.Glu149Asp) n.509G>C | |
19 | g.17283253G>T | CA404744615 | ANKLE1 | c.489G>T (p.Glu163Asp) n.706G>T c.456G>T (p.Glu152Asp) c.651G>T (p.Glu217Asp) c.*388G>T (n.*388G>T) n.602G>T c.491G>T c.618G>T (p.Glu206Asp) c.555G>T (p.Glu185Asp) n.765G>T c.447G>T (p.Glu149Asp) n.509G>T | |
19 | g.17283254A>C | CA404744616 | ANKLE1 | c.490A>C (p.Thr164Pro) n.707A>C c.457A>C (p.Thr153Pro) c.652A>C (p.Thr218Pro) c.*389A>C (n.*389A>C) n.603A>C c.492A>C c.619A>C (p.Thr207Pro) c.556A>C (p.Thr186Pro) n.766A>C c.448A>C (p.Thr150Pro) n.510A>C | |
19 | g.17283254A>G | CA404744617 | ANKLE1 | c.490A>G (p.Thr164Ala) n.707A>G c.457A>G (p.Thr153Ala) c.652A>G (p.Thr218Ala) c.*389A>G (n.*389A>G) n.603A>G c.492A>G c.619A>G (p.Thr207Ala) c.556A>G (p.Thr186Ala) n.766A>G c.448A>G (p.Thr150Ala) n.510A>G | |
19 | g.17283254A>T | CA404744618 | ANKLE1 | c.490A>T (p.Thr164Ser) n.707A>T c.457A>T (p.Thr153Ser) c.652A>T (p.Thr218Ser) c.*389A>T (n.*389A>T) n.603A>T c.492A>T c.619A>T (p.Thr207Ser) c.556A>T (p.Thr186Ser) n.766A>T c.448A>T (p.Thr150Ser) n.510A>T | |
19 | g.17283255C>A | CA404744619 | ANKLE1 | c.491C>A (p.Thr164Lys) n.708C>A c.458C>A (p.Thr153Lys) c.653C>A (p.Thr218Lys) c.*390C>A (n.*390C>A) n.604C>A c.493C>A c.620C>A (p.Thr207Lys) c.557C>A (p.Thr186Lys) n.767C>A c.449C>A (p.Thr150Lys) n.511C>A | |
19 | g.17283255C= | CA2325780436 | ANKLE1 | c.491C= (p.Thr164=) n.708C= c.458C= (p.Thr153=) c.653C= (p.Thr218=) c.*390C= (n.*390C=) n.604C= c.493C= c.620C= (p.Thr207=) c.557C= (p.Thr186=) n.767C= c.449C= (p.Thr150=) n.511C= | |
19 | g.17283255C>G | CA404744620 | ANKLE1 | c.491C>G (p.Thr164Arg) n.708C>G c.458C>G (p.Thr153Arg) c.653C>G (p.Thr218Arg) c.*390C>G (n.*390C>G) n.604C>G c.493C>G c.620C>G (p.Thr207Arg) c.557C>G (p.Thr186Arg) n.767C>G c.449C>G (p.Thr150Arg) n.511C>G | |
19 | g.17283255C>T | CA9291121 | ANKLE1 | c.491C>T (p.Thr164Met) n.708C>T c.458C>T (p.Thr153Met) c.653C>T (p.Thr218Met) c.*390C>T (n.*390C>T) n.604C>T c.493C>T c.620C>T (p.Thr207Met) c.557C>T (p.Thr186Met) n.767C>T c.449C>T (p.Thr150Met) n.511C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283256G>A | CA9291122 | ANKLE1 | c.492G>A (p.Thr164=) n.709G>A c.459G>A (p.Thr153=) c.654G>A (p.Thr218=) c.*391G>A (n.*391G>A) n.605G>A c.494G>A c.621G>A (p.Thr207=) c.558G>A (p.Thr186=) n.768G>A c.450G>A (p.Thr150=) n.512G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283256G>C | CA506095500 | ANKLE1 | c.492G>C (p.Thr164=) n.709G>C c.459G>C (p.Thr153=) c.654G>C (p.Thr218=) c.*391G>C (n.*391G>C) n.605G>C c.494G>C c.621G>C (p.Thr207=) c.558G>C (p.Thr186=) n.768G>C c.450G>C (p.Thr150=) n.512G>C | |
19 | g.17283256G= | CA2325780437 | ANKLE1 | c.492G= (p.Thr164=) n.709G= c.459G= (p.Thr153=) c.654G= (p.Thr218=) c.*391G= (n.*391G=) n.605G= c.494G= c.621G= (p.Thr207=) c.558G= (p.Thr186=) n.768G= c.450G= (p.Thr150=) n.512G= | |
19 | g.17283256G>T | CA506095501 | ANKLE1 | c.492G>T (p.Thr164=) n.709G>T c.459G>T (p.Thr153=) c.654G>T (p.Thr218=) c.*391G>T (n.*391G>T) n.605G>T c.494G>T c.621G>T (p.Thr207=) c.558G>T (p.Thr186=) n.768G>T c.450G>T (p.Thr150=) n.512G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283257C>A | CA404744621 | ANKLE1 | c.493C>A (p.Leu165Met) n.710C>A c.460C>A (p.Leu154Met) c.655C>A (p.Leu219Met) c.*392C>A (n.*392C>A) n.606C>A c.495C>A c.622C>A (p.Leu208Met) c.559C>A (p.Leu187Met) n.769C>A c.451C>A (p.Leu151Met) n.513C>A | |
19 | g.17283257C>G | CA404744622 | ANKLE1 | c.493C>G (p.Leu165Val) n.710C>G c.460C>G (p.Leu154Val) c.655C>G (p.Leu219Val) c.*392C>G (n.*392C>G) n.606C>G c.495C>G c.622C>G (p.Leu208Val) c.559C>G (p.Leu187Val) n.769C>G c.451C>G (p.Leu151Val) n.513C>G | |
19 | g.17283257C>T | CA506095503 | ANKLE1 | c.493C>T (p.Leu165=) n.710C>T c.460C>T (p.Leu154=) c.655C>T (p.Leu219=) c.*392C>T (n.*392C>T) n.606C>T c.495C>T c.622C>T (p.Leu208=) c.559C>T (p.Leu187=) n.769C>T c.451C>T (p.Leu151=) n.513C>T | gnomAD v4 |
19 | g.17283258T>A | CA404744625 | ANKLE1 | c.494T>A (p.Leu165Gln) n.711T>A c.461T>A (p.Leu154Gln) c.656T>A (p.Leu219Gln) c.*393T>A (n.*393T>A) n.607T>A c.496T>A c.623T>A (p.Leu208Gln) c.560T>A (p.Leu187Gln) n.770T>A c.452T>A (p.Leu151Gln) n.514T>A | dbSNP |
19 | g.17283258T>C | CA404744624 | ANKLE1 | c.494T>C (p.Leu165Pro) n.711T>C c.461T>C (p.Leu154Pro) c.656T>C (p.Leu219Pro) c.*393T>C (n.*393T>C) n.607T>C c.496T>C c.623T>C (p.Leu208Pro) c.560T>C (p.Leu187Pro) n.770T>C c.452T>C (p.Leu151Pro) n.514T>C | |
19 | g.17283258T>G | CA404744623 | ANKLE1 | c.494T>G (p.Leu165Arg) n.711T>G c.461T>G (p.Leu154Arg) c.656T>G (p.Leu219Arg) c.*393T>G (n.*393T>G) n.607T>G c.496T>G c.623T>G (p.Leu208Arg) c.560T>G (p.Leu187Arg) n.770T>G c.452T>G (p.Leu151Arg) n.514T>G | |
19 | g.17283258T= | CA2325780438 | ANKLE1 | c.494T= (p.Leu165=) n.711T= c.461T= (p.Leu154=) c.656T= (p.Leu219=) c.*393T= (n.*393T=) n.607T= c.496T= c.623T= (p.Leu208=) c.560T= (p.Leu187=) n.770T= c.452T= (p.Leu151=) n.514T= | |
19 | g.17283259G>A | CA506095506 | ANKLE1 | c.495G>A (p.Leu165=) n.712G>A c.462G>A (p.Leu154=) c.657G>A (p.Leu219=) c.*394G>A (n.*394G>A) n.608G>A c.497G>A c.624G>A (p.Leu208=) c.561G>A (p.Leu187=) n.771G>A c.453G>A (p.Leu151=) n.515G>A | gnomAD v4 |
19 | g.17283259G>C | CA506095508 | ANKLE1 | c.495G>C (p.Leu165=) n.712G>C c.462G>C (p.Leu154=) c.657G>C (p.Leu219=) c.*394G>C (n.*394G>C) n.608G>C c.497G>C c.624G>C (p.Leu208=) c.561G>C (p.Leu187=) n.771G>C c.453G>C (p.Leu151=) n.515G>C | |
19 | g.17283259G= | CA2325780439 | ANKLE1 | c.495G= (p.Leu165=) n.712G= c.462G= (p.Leu154=) c.657G= (p.Leu219=) c.*394G= (n.*394G=) n.608G= c.497G= c.624G= (p.Leu208=) c.561G= (p.Leu187=) n.771G= c.453G= (p.Leu151=) n.515G= | |
19 | g.17283259G>T | CA506095509 | ANKLE1 | c.495G>T (p.Leu165=) n.712G>T c.462G>T (p.Leu154=) c.657G>T (p.Leu219=) c.*394G>T (n.*394G>T) n.608G>T c.497G>T c.624G>T (p.Leu208=) c.561G>T (p.Leu187=) n.771G>T c.453G>T (p.Leu151=) n.515G>T | dbSNP gnomAD v2 |
19 | g.17283260G>A | CA404744626 | ANKLE1 | c.496G>A (p.Asp166Asn) n.713G>A c.463G>A (p.Asp155Asn) c.658G>A (p.Asp220Asn) c.*395G>A (n.*395G>A) n.609G>A c.498G>A c.625G>A (p.Asp209Asn) c.562G>A (p.Asp188Asn) n.772G>A c.454G>A (p.Asp152Asn) n.516G>A | |
19 | g.17283260G>C | CA404744627 | ANKLE1 | c.496G>C (p.Asp166His) n.713G>C c.463G>C (p.Asp155His) c.658G>C (p.Asp220His) c.*395G>C (n.*395G>C) n.609G>C c.498G>C c.625G>C (p.Asp209His) c.562G>C (p.Asp188His) n.772G>C c.454G>C (p.Asp152His) n.516G>C | |
19 | g.17283260G= | CA2325780440 | ANKLE1 | c.496G= (p.Asp166=) n.713G= c.463G= (p.Asp155=) c.658G= (p.Asp220=) c.*395G= (n.*395G=) n.609G= c.498G= c.625G= (p.Asp209=) c.562G= (p.Asp188=) n.772G= c.454G= (p.Asp152=) n.516G= | |
19 | g.17283260G>T | CA404744628 | ANKLE1 | c.496G>T (p.Asp166Tyr) n.713G>T c.463G>T (p.Asp155Tyr) c.658G>T (p.Asp220Tyr) c.*395G>T (n.*395G>T) n.609G>T c.498G>T c.625G>T (p.Asp209Tyr) c.562G>T (p.Asp188Tyr) n.772G>T c.454G>T (p.Asp152Tyr) n.516G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283261A>C | CA404744629 | ANKLE1 | c.497A>C (p.Asp166Ala) n.714A>C c.464A>C (p.Asp155Ala) c.659A>C (p.Asp220Ala) c.*396A>C (n.*396A>C) n.610A>C c.499A>C c.626A>C (p.Asp209Ala) c.563A>C (p.Asp188Ala) n.773A>C c.455A>C (p.Asp152Ala) n.517A>C | |
19 | g.17283261A>G | CA404744630 | ANKLE1 | c.497A>G (p.Asp166Gly) n.714A>G c.464A>G (p.Asp155Gly) c.659A>G (p.Asp220Gly) c.*396A>G (n.*396A>G) n.610A>G c.499A>G c.626A>G (p.Asp209Gly) c.563A>G (p.Asp188Gly) n.773A>G c.455A>G (p.Asp152Gly) n.517A>G | |
19 | g.17283261A>T | CA404744631 | ANKLE1 | c.497A>T (p.Asp166Val) n.714A>T c.464A>T (p.Asp155Val) c.659A>T (p.Asp220Val) c.*396A>T (n.*396A>T) n.610A>T c.499A>T c.626A>T (p.Asp209Val) c.563A>T (p.Asp188Val) n.773A>T c.455A>T (p.Asp152Val) n.517A>T | |
19 | g.17283262C>A | CA404744632 | ANKLE1 | c.498C>A (p.Asp166Glu) n.715C>A c.465C>A (p.Asp155Glu) c.660C>A (p.Asp220Glu) c.*397C>A (n.*397C>A) n.611C>A c.500C>A c.627C>A (p.Asp209Glu) c.564C>A (p.Asp188Glu) n.774C>A c.456C>A (p.Asp152Glu) n.518C>A | |
19 | g.17283262C>G | CA404744633 | ANKLE1 | c.498C>G (p.Asp166Glu) n.715C>G c.465C>G (p.Asp155Glu) c.660C>G (p.Asp220Glu) c.*397C>G (n.*397C>G) n.611C>G c.500C>G c.627C>G (p.Asp209Glu) c.564C>G (p.Asp188Glu) n.774C>G c.456C>G (p.Asp152Glu) n.518C>G | |
19 | g.17283262C>T | CA506095512 | ANKLE1 | c.498C>T (p.Asp166=) n.715C>T c.465C>T (p.Asp155=) c.660C>T (p.Asp220=) c.*397C>T (n.*397C>T) n.611C>T c.500C>T c.627C>T (p.Asp209=) c.564C>T (p.Asp188=) n.774C>T c.456C>T (p.Asp152=) n.518C>T | |
19 | g.17283263T>A | CA404744634 | ANKLE1 | c.499T>A (p.Ser167Thr) n.716T>A c.466T>A (p.Ser156Thr) c.661T>A (p.Ser221Thr) c.*398T>A (n.*398T>A) n.612T>A c.501T>A c.628T>A (p.Ser210Thr) c.565T>A (p.Ser189Thr) n.775T>A c.457T>A (p.Ser153Thr) n.519T>A | |
19 | g.17283263T>C | CA404744635 | ANKLE1 | c.499T>C (p.Ser167Pro) n.716T>C c.466T>C (p.Ser156Pro) c.661T>C (p.Ser221Pro) c.*398T>C (n.*398T>C) n.612T>C c.501T>C c.628T>C (p.Ser210Pro) c.565T>C (p.Ser189Pro) n.775T>C c.457T>C (p.Ser153Pro) n.519T>C | |
19 | g.17283263T>G | CA404744636 | ANKLE1 | c.499T>G (p.Ser167Ala) n.716T>G c.466T>G (p.Ser156Ala) c.661T>G (p.Ser221Ala) c.*398T>G (n.*398T>G) n.612T>G c.501T>G c.628T>G (p.Ser210Ala) c.565T>G (p.Ser189Ala) n.775T>G c.457T>G (p.Ser153Ala) n.519T>G | |
19 | g.17283264C>A | CA404744638 | ANKLE1 | c.500C>A (p.Ser167Tyr) n.717C>A c.467C>A (p.Ser156Tyr) c.662C>A (p.Ser221Tyr) c.*399C>A (n.*399C>A) n.613C>A c.502C>A c.629C>A (p.Ser210Tyr) c.566C>A (p.Ser189Tyr) n.776C>A c.458C>A (p.Ser153Tyr) n.520C>A | |
19 | g.17283264C= | CA2325780441 | ANKLE1 | c.500C= (p.Ser167=) n.717C= c.467C= (p.Ser156=) c.662C= (p.Ser221=) c.*399C= (n.*399C=) n.613C= c.502C= c.629C= (p.Ser210=) c.566C= (p.Ser189=) n.776C= c.458C= (p.Ser153=) n.520C= | |
19 | g.17283264C>G | CA404744637 | ANKLE1 | c.500C>G (p.Ser167Cys) n.717C>G c.467C>G (p.Ser156Cys) c.662C>G (p.Ser221Cys) c.*399C>G (n.*399C>G) n.613C>G c.502C>G c.629C>G (p.Ser210Cys) c.566C>G (p.Ser189Cys) n.776C>G c.458C>G (p.Ser153Cys) n.520C>G | |
19 | g.17283264C>T | CA306086149 | ANKLE1 | c.500C>T (p.Ser167Phe) n.717C>T c.467C>T (p.Ser156Phe) c.662C>T (p.Ser221Phe) c.*399C>T (n.*399C>T) n.613C>T c.502C>T c.629C>T (p.Ser210Phe) c.566C>T (p.Ser189Phe) n.776C>T c.458C>T (p.Ser153Phe) n.520C>T | dbSNP |
19 | g.17283265C>A | CA506095519 | ANKLE1 | c.501C>A (p.Ser167=) n.718C>A c.468C>A (p.Ser156=) c.663C>A (p.Ser221=) c.*400C>A (n.*400C>A) n.614C>A c.503C>A c.630C>A (p.Ser210=) c.567C>A (p.Ser189=) n.777C>A c.459C>A (p.Ser153=) n.521C>A | |
19 | g.17283265C= | CA2325780442 | ANKLE1 | c.501C= (p.Ser167=) n.718C= c.468C= (p.Ser156=) c.663C= (p.Ser221=) c.*400C= (n.*400C=) n.614C= c.503C= c.630C= (p.Ser210=) c.567C= (p.Ser189=) n.777C= c.459C= (p.Ser153=) n.521C= | |
19 | g.17283265C>G | CA506095517 | ANKLE1 | c.501C>G (p.Ser167=) n.718C>G c.468C>G (p.Ser156=) c.663C>G (p.Ser221=) c.*400C>G (n.*400C>G) n.614C>G c.503C>G c.630C>G (p.Ser210=) c.567C>G (p.Ser189=) n.777C>G c.459C>G (p.Ser153=) n.521C>G | |
19 | g.17283265C>T | CA506095518 | ANKLE1 | c.501C>T (p.Ser167=) n.718C>T c.468C>T (p.Ser156=) c.663C>T (p.Ser221=) c.*400C>T (n.*400C>T) n.614C>T c.503C>T c.630C>T (p.Ser210=) c.567C>T (p.Ser189=) n.777C>T c.459C>T (p.Ser153=) n.521C>T | dbSNP |
19 | g.17283266A= | CA2325780443 | ANKLE1 | c.502A= (p.Ile168=) n.719A= c.469A= (p.Ile157=) c.664A= (p.Ile222=) c.*401A= (n.*401A=) n.615A= c.504A= c.631A= (p.Ile211=) c.568A= (p.Ile190=) n.778A= c.460A= (p.Ile154=) n.522A= | |
19 | g.17283266A>C | CA404744639 | ANKLE1 | c.502A>C (p.Ile168Leu) n.719A>C c.469A>C (p.Ile157Leu) c.664A>C (p.Ile222Leu) c.*401A>C (n.*401A>C) n.615A>C c.504A>C c.631A>C (p.Ile211Leu) c.568A>C (p.Ile190Leu) n.778A>C c.460A>C (p.Ile154Leu) n.522A>C | |
19 | g.17283266A>G | CA404744640 | ANKLE1 | c.502A>G (p.Ile168Val) n.719A>G c.469A>G (p.Ile157Val) c.664A>G (p.Ile222Val) c.*401A>G (n.*401A>G) n.615A>G c.504A>G c.631A>G (p.Ile211Val) c.568A>G (p.Ile190Val) n.778A>G c.460A>G (p.Ile154Val) n.522A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283266A>T | CA404744641 | ANKLE1 | c.502A>T (p.Ile168Leu) n.719A>T c.469A>T (p.Ile157Leu) c.664A>T (p.Ile222Leu) c.*401A>T (n.*401A>T) n.615A>T c.504A>T c.631A>T (p.Ile211Leu) c.568A>T (p.Ile190Leu) n.778A>T c.460A>T (p.Ile154Leu) n.522A>T | |
19 | g.17283267T>A | CA404744642 | ANKLE1 | c.503T>A (p.Ile168Lys) n.720T>A c.470T>A (p.Ile157Lys) c.665T>A (p.Ile222Lys) c.*402T>A (n.*402T>A) n.616T>A c.505T>A c.632T>A (p.Ile211Lys) c.569T>A (p.Ile190Lys) n.779T>A c.461T>A (p.Ile154Lys) n.523T>A | |
19 | g.17283267T>C | CA404744643 | ANKLE1 | c.503T>C (p.Ile168Thr) n.720T>C c.470T>C (p.Ile157Thr) c.665T>C (p.Ile222Thr) c.*402T>C (n.*402T>C) n.616T>C c.505T>C c.632T>C (p.Ile211Thr) c.569T>C (p.Ile190Thr) n.779T>C c.461T>C (p.Ile154Thr) n.523T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.17283267T>G | CA404744644 | ANKLE1 | c.503T>G (p.Ile168Arg) n.720T>G c.470T>G (p.Ile157Arg) c.665T>G (p.Ile222Arg) c.*402T>G (n.*402T>G) n.616T>G c.505T>G c.632T>G (p.Ile211Arg) c.569T>G (p.Ile190Arg) n.779T>G c.461T>G (p.Ile154Arg) n.523T>G | |
19 | g.17283267T= | CA2325780444 | ANKLE1 | c.503T= (p.Ile168=) n.720T= c.470T= (p.Ile157=) c.665T= (p.Ile222=) c.*402T= (n.*402T=) n.616T= c.505T= c.632T= (p.Ile211=) c.569T= (p.Ile190=) n.779T= c.461T= (p.Ile154=) n.523T= | |
19 | g.17283268A>C | CA506095523 | ANKLE1 | c.504A>C (p.Ile168=) n.721A>C c.471A>C (p.Ile157=) c.666A>C (p.Ile222=) c.*403A>C (n.*403A>C) n.617A>C c.506A>C c.633A>C (p.Ile211=) c.570A>C (p.Ile190=) n.780A>C c.462A>C (p.Ile154=) n.524A>C | |
19 | g.17283268A>G | CA404744645 | ANKLE1 | c.504A>G (p.Ile168Met) n.721A>G c.471A>G (p.Ile157Met) c.666A>G (p.Ile222Met) c.*403A>G (n.*403A>G) n.617A>G c.506A>G c.633A>G (p.Ile211Met) c.570A>G (p.Ile190Met) n.780A>G c.462A>G (p.Ile154Met) n.524A>G | |
19 | g.17283268A>T | CA506095524 | ANKLE1 | c.504A>T (p.Ile168=) n.721A>T c.471A>T (p.Ile157=) c.666A>T (p.Ile222=) c.*403A>T (n.*403A>T) n.617A>T c.506A>T c.633A>T (p.Ile211=) c.570A>T (p.Ile190=) n.780A>T c.462A>T (p.Ile154=) n.524A>T | |
19 | g.17283269G>A | CA404744646 | ANKLE1 | c.505G>A (p.Ala169Thr) n.722G>A c.472G>A (p.Ala158Thr) c.667G>A (p.Ala223Thr) c.*404G>A (n.*404G>A) n.618G>A c.507G>A c.634G>A (p.Ala212Thr) c.571G>A (p.Ala191Thr) n.781G>A c.463G>A (p.Ala155Thr) n.525G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.17283269G>C | CA404744647 | ANKLE1 | c.505G>C (p.Ala169Pro) n.722G>C c.472G>C (p.Ala158Pro) c.667G>C (p.Ala223Pro) c.*404G>C (n.*404G>C) n.618G>C c.507G>C c.634G>C (p.Ala212Pro) c.571G>C (p.Ala191Pro) n.781G>C c.463G>C (p.Ala155Pro) n.525G>C | |
19 | g.17283269G= | CA2325780445 | ANKLE1 | c.505G= (p.Ala169=) n.722G= c.472G= (p.Ala158=) c.667G= (p.Ala223=) c.*404G= (n.*404G=) n.618G= c.507G= c.634G= (p.Ala212=) c.571G= (p.Ala191=) n.781G= c.463G= (p.Ala155=) n.525G= | |
19 | g.17283269G>T | CA404744648 | ANKLE1 | c.505G>T (p.Ala169Ser) n.722G>T c.472G>T (p.Ala158Ser) c.667G>T (p.Ala223Ser) c.*404G>T (n.*404G>T) n.618G>T c.507G>T c.634G>T (p.Ala212Ser) c.571G>T (p.Ala191Ser) n.781G>T c.463G>T (p.Ala155Ser) n.525G>T | |
19 | g.17283270C>A | CA404744649 | ANKLE1 | c.506C>A (p.Ala169Glu) n.723C>A c.473C>A (p.Ala158Glu) c.668C>A (p.Ala223Glu) c.*405C>A (n.*405C>A) n.619C>A c.508C>A c.635C>A (p.Ala212Glu) c.572C>A (p.Ala191Glu) n.782C>A c.464C>A (p.Ala155Glu) n.526C>A | |
19 | g.17283270C= | CA2325780446 | ANKLE1 | c.506C= (p.Ala169=) n.723C= c.473C= (p.Ala158=) c.668C= (p.Ala223=) c.*405C= (n.*405C=) n.619C= c.508C= c.635C= (p.Ala212=) c.572C= (p.Ala191=) n.782C= c.464C= (p.Ala155=) n.526C= | |
19 | g.17283270C>G | CA404744650 | ANKLE1 | c.506C>G (p.Ala169Gly) n.723C>G c.473C>G (p.Ala158Gly) c.668C>G (p.Ala223Gly) c.*405C>G (n.*405C>G) n.619C>G c.508C>G c.635C>G (p.Ala212Gly) c.572C>G (p.Ala191Gly) n.782C>G c.464C>G (p.Ala155Gly) n.526C>G | |
19 | g.17283270C>T | CA9291123 | ANKLE1 | c.506C>T (p.Ala169Val) n.723C>T c.473C>T (p.Ala158Val) c.668C>T (p.Ala223Val) c.*405C>T (n.*405C>T) n.619C>T c.508C>T c.635C>T (p.Ala212Val) c.572C>T (p.Ala191Val) n.782C>T c.464C>T (p.Ala155Val) n.526C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283271A= | CA2325780447 | ANKLE1 | c.507A= (p.Ala169=) n.724A= c.474A= (p.Ala158=) c.669A= (p.Ala223=) c.*406A= (n.*406A=) n.620A= c.509A= c.636A= (p.Ala212=) c.573A= (p.Ala191=) n.783A= c.465A= (p.Ala155=) n.527A= | |
19 | g.17283271A>C | CA506095526 | ANKLE1 | c.507A>C (p.Ala169=) n.724A>C c.474A>C (p.Ala158=) c.669A>C (p.Ala223=) c.*406A>C (n.*406A>C) n.620A>C c.509A>C c.636A>C (p.Ala212=) c.573A>C (p.Ala191=) n.783A>C c.465A>C (p.Ala155=) n.527A>C | |
19 | g.17283271A>G | CA506095528 | ANKLE1 | c.507A>G (p.Ala169=) n.724A>G c.474A>G (p.Ala158=) c.669A>G (p.Ala223=) c.*406A>G (n.*406A>G) n.620A>G c.509A>G c.636A>G (p.Ala212=) c.573A>G (p.Ala191=) n.783A>G c.465A>G (p.Ala155=) n.527A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283271A>T | CA506095529 | ANKLE1 | c.507A>T (p.Ala169=) n.724A>T c.474A>T (p.Ala158=) c.669A>T (p.Ala223=) c.*406A>T (n.*406A>T) n.620A>T c.509A>T c.636A>T (p.Ala212=) c.573A>T (p.Ala191=) n.783A>T c.465A>T (p.Ala155=) n.527A>T | |
19 | g.17283272C>A | CA404744651 | ANKLE1 | c.508C>A (p.Leu170Ile) n.725C>A c.475C>A (p.Leu159Ile) c.670C>A (p.Leu224Ile) c.*407C>A (n.*407C>A) n.621C>A c.510C>A c.637C>A (p.Leu213Ile) c.574C>A (p.Leu192Ile) n.784C>A c.466C>A (p.Leu156Ile) n.528C>A | |
19 | g.17283272C= | CA2325780448 | ANKLE1 | c.508C= (p.Leu170=) n.725C= c.475C= (p.Leu159=) c.670C= (p.Leu224=) c.*407C= (n.*407C=) n.621C= c.510C= c.637C= (p.Leu213=) c.574C= (p.Leu192=) n.784C= c.466C= (p.Leu156=) n.528C= | |
19 | g.17283272C>G | CA404744653 | ANKLE1 | c.508C>G (p.Leu170Val) n.725C>G c.475C>G (p.Leu159Val) c.670C>G (p.Leu224Val) c.*407C>G (n.*407C>G) n.621C>G c.510C>G c.637C>G (p.Leu213Val) c.574C>G (p.Leu192Val) n.784C>G c.466C>G (p.Leu156Val) n.528C>G | |
19 | g.17283272C>T | CA404744652 | ANKLE1 | c.508C>T (p.Leu170Phe) n.725C>T c.475C>T (p.Leu159Phe) c.670C>T (p.Leu224Phe) c.*407C>T (n.*407C>T) n.621C>T c.510C>T c.637C>T (p.Leu213Phe) c.574C>T (p.Leu192Phe) n.784C>T c.466C>T (p.Leu156Phe) n.528C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283272_17283273insCCCC | CA2583322991 | ANKLE1 | c.508_509insCCCC (p.Leu170ProfsTer10) n.725_726insCCCC c.475_476insCCCC (p.Leu159ProfsTer10) c.670_671insCCCC (p.Leu224ProfsTer10) c.*407_*408insCCCC (n.*407_*408insCCCC) n.621_622insCCCC c.510_511insCCCC c.637_638insCCCC (p.Leu213ProfsTer10) c.574_575insCCCC (p.Leu192ProfsTer10) n.784_785insCCCC c.466_467insCCCC (p.Leu156ProfsTer10) n.528_529insCCCC | gnomAD v4 |
19 | g.17283273T>A | CA404744654 | ANKLE1 | c.509T>A (p.Leu170His) n.726T>A c.476T>A (p.Leu159His) c.671T>A (p.Leu224His) c.*408T>A (n.*408T>A) n.622T>A c.511T>A c.638T>A (p.Leu213His) c.575T>A (p.Leu192His) n.785T>A c.467T>A (p.Leu156His) n.529T>A | |
19 | g.17283273T>C | CA404744655 | ANKLE1 | c.509T>C (p.Leu170Pro) n.726T>C c.476T>C (p.Leu159Pro) c.671T>C (p.Leu224Pro) c.*408T>C (n.*408T>C) n.622T>C c.511T>C c.638T>C (p.Leu213Pro) c.575T>C (p.Leu192Pro) n.785T>C c.467T>C (p.Leu156Pro) n.529T>C | |
19 | g.17283273T>G | CA404744656 | ANKLE1 | c.509T>G (p.Leu170Arg) n.726T>G c.476T>G (p.Leu159Arg) c.671T>G (p.Leu224Arg) c.*408T>G (n.*408T>G) n.622T>G c.511T>G c.638T>G (p.Leu213Arg) c.575T>G (p.Leu192Arg) n.785T>G c.467T>G (p.Leu156Arg) n.529T>G | |
19 | g.17283274C>A | CA506095532 | ANKLE1 | c.510C>A (p.Leu170=) n.727C>A c.477C>A (p.Leu159=) c.672C>A (p.Leu224=) c.*409C>A (n.*409C>A) n.623C>A c.512C>A c.639C>A (p.Leu213=) c.576C>A (p.Leu192=) n.786C>A c.468C>A (p.Leu156=) n.530C>A | |
19 | g.17283274C>G | CA506095533 | ANKLE1 | c.510C>G (p.Leu170=) n.727C>G c.477C>G (p.Leu159=) c.672C>G (p.Leu224=) c.*409C>G (n.*409C>G) n.623C>G c.512C>G c.639C>G (p.Leu213=) c.576C>G (p.Leu192=) n.786C>G c.468C>G (p.Leu156=) n.530C>G | |
19 | g.17283274C>T | CA506095534 | ANKLE1 | c.510C>T (p.Leu170=) n.727C>T c.477C>T (p.Leu159=) c.672C>T (p.Leu224=) c.*409C>T (n.*409C>T) n.623C>T c.512C>T c.639C>T (p.Leu213=) c.576C>T (p.Leu192=) n.786C>T c.468C>T (p.Leu156=) n.530C>T | gnomAD v4 |
19 | g.17283275C>A | CA404744657 | ANKLE1 | c.511C>A (p.Gln171Lys) n.728C>A c.478C>A (p.Gln160Lys) c.673C>A (p.Gln225Lys) c.*410C>A (n.*410C>A) n.624C>A c.513C>A c.640C>A (p.Gln214Lys) c.577C>A (p.Gln193Lys) n.787C>A c.469C>A (p.Gln157Lys) n.531C>A | |
19 | g.17283275C= | CA2325780449 | ANKLE1 | c.511C= (p.Gln171=) n.728C= c.478C= (p.Gln160=) c.673C= (p.Gln225=) c.*410C= (n.*410C=) n.624C= c.513C= c.640C= (p.Gln214=) c.577C= (p.Gln193=) n.787C= c.469C= (p.Gln157=) n.531C= | |
19 | g.17283275C>G | CA404744658 | ANKLE1 | c.511C>G (p.Gln171Glu) n.728C>G c.478C>G (p.Gln160Glu) c.673C>G (p.Gln225Glu) c.*410C>G (n.*410C>G) n.624C>G c.513C>G c.640C>G (p.Gln214Glu) c.577C>G (p.Gln193Glu) n.787C>G c.469C>G (p.Gln157Glu) n.531C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283275C>T | CA404744659 | ANKLE1 | c.511C>T (p.Gln171Ter) n.728C>T c.478C>T (p.Gln160Ter) c.673C>T (p.Gln225Ter) c.*410C>T (n.*410C>T) n.624C>T c.513C>T c.640C>T (p.Gln214Ter) c.577C>T (p.Gln193Ter) n.787C>T c.469C>T (p.Gln157Ter) n.531C>T | |
19 | g.17283276A>C | CA404744660 | ANKLE1 | c.512A>C (p.Gln171Pro) n.729A>C c.479A>C (p.Gln160Pro) c.674A>C (p.Gln225Pro) c.*411A>C (n.*411A>C) n.625A>C c.514A>C c.641A>C (p.Gln214Pro) c.578A>C (p.Gln193Pro) n.788A>C c.470A>C (p.Gln157Pro) n.532A>C | |
19 | g.17283276A>G | CA404744661 | ANKLE1 | c.512A>G (p.Gln171Arg) n.729A>G c.479A>G (p.Gln160Arg) c.674A>G (p.Gln225Arg) c.*411A>G (n.*411A>G) n.625A>G c.514A>G c.641A>G (p.Gln214Arg) c.578A>G (p.Gln193Arg) n.788A>G c.470A>G (p.Gln157Arg) n.532A>G | |
19 | g.17283276A>T | CA404744662 | ANKLE1 | c.512A>T (p.Gln171Leu) n.729A>T c.479A>T (p.Gln160Leu) c.674A>T (p.Gln225Leu) c.*411A>T (n.*411A>T) n.625A>T c.514A>T c.641A>T (p.Gln214Leu) c.578A>T (p.Gln193Leu) n.788A>T c.470A>T (p.Gln157Leu) n.532A>T | |
19 | g.17283277A>C | CA404744663 | ANKLE1 | c.513A>C (p.Gln171His) n.730A>C c.480A>C (p.Gln160His) c.675A>C (p.Gln225His) c.*412A>C (n.*412A>C) n.626A>C c.515A>C c.642A>C (p.Gln214His) c.579A>C (p.Gln193His) n.789A>C c.471A>C (p.Gln157His) n.533A>C | |
19 | g.17283277A>G | CA506095539 | ANKLE1 | c.513A>G (p.Gln171=) n.730A>G c.480A>G (p.Gln160=) c.675A>G (p.Gln225=) c.*412A>G (n.*412A>G) n.626A>G c.515A>G c.642A>G (p.Gln214=) c.579A>G (p.Gln193=) n.789A>G c.471A>G (p.Gln157=) n.533A>G | |
19 | g.17283277A>T | CA404744664 | ANKLE1 | c.513A>T (p.Gln171His) n.730A>T c.480A>T (p.Gln160His) c.675A>T (p.Gln225His) c.*412A>T (n.*412A>T) n.626A>T c.515A>T c.642A>T (p.Gln214His) c.579A>T (p.Gln193His) n.789A>T c.471A>T (p.Gln157His) n.533A>T | |
19 | g.17283278A= | CA2325780450 | ANKLE1 | c.514A= (p.Lys172=) n.731A= c.481A= (p.Lys161=) c.676A= (p.Lys226=) c.*413A= (n.*413A=) n.627A= c.516A= c.643A= (p.Lys215=) c.580A= (p.Lys194=) n.790A= c.472A= (p.Lys158=) n.534A= | |
19 | g.17283278A>C | CA404744665 | ANKLE1 | c.514A>C (p.Lys172Gln) n.731A>C c.481A>C (p.Lys161Gln) c.676A>C (p.Lys226Gln) c.*413A>C (n.*413A>C) n.627A>C c.516A>C c.643A>C (p.Lys215Gln) c.580A>C (p.Lys194Gln) n.790A>C c.472A>C (p.Lys158Gln) n.534A>C | |
19 | g.17283278A>G | CA404744666 | ANKLE1 | c.514A>G (p.Lys172Glu) n.731A>G c.481A>G (p.Lys161Glu) c.676A>G (p.Lys226Glu) c.*413A>G (n.*413A>G) n.627A>G c.516A>G c.643A>G (p.Lys215Glu) c.580A>G (p.Lys194Glu) n.790A>G c.472A>G (p.Lys158Glu) n.534A>G | |
19 | g.17283278A>T | CA9291124 | ANKLE1 | c.514A>T (p.Lys172Ter) n.731A>T c.481A>T (p.Lys161Ter) c.676A>T (p.Lys226Ter) c.*413A>T (n.*413A>T) n.627A>T c.516A>T c.643A>T (p.Lys215Ter) c.580A>T (p.Lys194Ter) n.790A>T c.472A>T (p.Lys158Ter) n.534A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283279A>C | CA404744669 | ANKLE1 | c.515A>C (p.Lys172Thr) n.732A>C c.482A>C (p.Lys161Thr) c.677A>C (p.Lys226Thr) c.*414A>C (n.*414A>C) n.628A>C c.517A>C c.644A>C (p.Lys215Thr) c.581A>C (p.Lys194Thr) n.791A>C c.473A>C (p.Lys158Thr) n.535A>C | |
19 | g.17283279A>G | CA404744667 | ANKLE1 | c.515A>G (p.Lys172Arg) n.732A>G c.482A>G (p.Lys161Arg) c.677A>G (p.Lys226Arg) c.*414A>G (n.*414A>G) n.628A>G c.517A>G c.644A>G (p.Lys215Arg) c.581A>G (p.Lys194Arg) n.791A>G c.473A>G (p.Lys158Arg) n.535A>G | |
19 | g.17283279A>T | CA404744668 | ANKLE1 | c.515A>T (p.Lys172Met) n.732A>T c.482A>T (p.Lys161Met) c.677A>T (p.Lys226Met) c.*414A>T (n.*414A>T) n.628A>T c.517A>T c.644A>T (p.Lys215Met) c.581A>T (p.Lys194Met) n.791A>T c.473A>T (p.Lys158Met) n.535A>T | |
19 | g.17283280G>A | CA506095543 | ANKLE1 | c.516G>A (p.Lys172=) n.733G>A c.483G>A (p.Lys161=) c.678G>A (p.Lys226=) c.*415G>A (n.*415G>A) n.629G>A c.518G>A c.645G>A (p.Lys215=) c.582G>A (p.Lys194=) n.792G>A c.474G>A (p.Lys158=) n.536G>A | |
19 | g.17283280G>C | CA404744670 | ANKLE1 | c.516G>C (p.Lys172Asn) n.733G>C c.483G>C (p.Lys161Asn) c.678G>C (p.Lys226Asn) c.*415G>C (n.*415G>C) n.629G>C c.518G>C c.645G>C (p.Lys215Asn) c.582G>C (p.Lys194Asn) n.792G>C c.474G>C (p.Lys158Asn) n.536G>C | |
19 | g.17283280G>T | CA404744671 | ANKLE1 | c.516G>T (p.Lys172Asn) n.733G>T c.483G>T (p.Lys161Asn) c.678G>T (p.Lys226Asn) c.*415G>T (n.*415G>T) n.629G>T c.518G>T c.645G>T (p.Lys215Asn) c.582G>T (p.Lys194Asn) n.792G>T c.474G>T (p.Lys158Asn) n.536G>T | |
19 | g.17283281C>A | CA404744672 | ANKLE1 | c.517C>A (p.Gln173Lys) n.734C>A c.484C>A (p.Gln162Lys) c.679C>A (p.Gln227Lys) c.*416C>A (n.*416C>A) n.630C>A c.519C>A c.646C>A (p.Gln216Lys) c.583C>A (p.Gln195Lys) n.793C>A c.475C>A (p.Gln159Lys) n.537C>A | |
19 | g.17283281C= | CA2325780451 | ANKLE1 | c.517C= (p.Gln173=) n.734C= c.484C= (p.Gln162=) c.679C= (p.Gln227=) c.*416C= (n.*416C=) n.630C= c.519C= c.646C= (p.Gln216=) c.583C= (p.Gln195=) n.793C= c.475C= (p.Gln159=) n.537C= | |
19 | g.17283281C>G | CA404744673 | ANKLE1 | c.517C>G (p.Gln173Glu) n.734C>G c.484C>G (p.Gln162Glu) c.679C>G (p.Gln227Glu) c.*416C>G (n.*416C>G) n.630C>G c.519C>G c.646C>G (p.Gln216Glu) c.583C>G (p.Gln195Glu) n.793C>G c.475C>G (p.Gln159Glu) n.537C>G | dbSNP |
19 | g.17283281C>T | CA404744674 | ANKLE1 | c.517C>T (p.Gln173Ter) n.734C>T c.484C>T (p.Gln162Ter) c.679C>T (p.Gln227Ter) c.*416C>T (n.*416C>T) n.630C>T c.519C>T c.646C>T (p.Gln216Ter) c.583C>T (p.Gln195Ter) n.793C>T c.475C>T (p.Gln159Ter) n.537C>T | dbSNP |
19 | g.17283282A>C | CA404744675 | ANKLE1 | c.518A>C (p.Gln173Pro) n.735A>C c.485A>C (p.Gln162Pro) c.680A>C (p.Gln227Pro) c.*417A>C (n.*417A>C) n.631A>C c.520A>C c.647A>C (p.Gln216Pro) c.584A>C (p.Gln195Pro) n.794A>C c.476A>C (p.Gln159Pro) n.538A>C | gnomAD v4 |
19 | g.17283282A>G | CA404744676 | ANKLE1 | c.518A>G (p.Gln173Arg) n.735A>G c.485A>G (p.Gln162Arg) c.680A>G (p.Gln227Arg) c.*417A>G (n.*417A>G) n.631A>G c.520A>G c.647A>G (p.Gln216Arg) c.584A>G (p.Gln195Arg) n.794A>G c.476A>G (p.Gln159Arg) n.538A>G | gnomAD v4 |
19 | g.17283282A>T | CA404744677 | ANKLE1 | c.518A>T (p.Gln173Leu) n.735A>T c.485A>T (p.Gln162Leu) c.680A>T (p.Gln227Leu) c.*417A>T (n.*417A>T) n.631A>T c.520A>T c.647A>T (p.Gln216Leu) c.584A>T (p.Gln195Leu) n.794A>T c.476A>T (p.Gln159Leu) n.538A>T | |
19 | g.17283283G>A | CA506095550 | ANKLE1 | c.519G>A (p.Gln173=) n.736G>A c.486G>A (p.Gln162=) c.681G>A (p.Gln227=) c.*418G>A (n.*418G>A) n.632G>A c.521G>A c.648G>A (p.Gln216=) c.585G>A (p.Gln195=) n.795G>A c.477G>A (p.Gln159=) n.539G>A | |
19 | g.17283283G>C | CA404744678 | ANKLE1 | c.519G>C (p.Gln173His) n.736G>C c.486G>C (p.Gln162His) c.681G>C (p.Gln227His) c.*418G>C (n.*418G>C) n.632G>C c.521G>C c.648G>C (p.Gln216His) c.585G>C (p.Gln195His) n.795G>C c.477G>C (p.Gln159His) n.539G>C | |
19 | g.17283283G>T | CA404744679 | ANKLE1 | c.519G>T (p.Gln173His) n.736G>T c.486G>T (p.Gln162His) c.681G>T (p.Gln227His) c.*418G>T (n.*418G>T) n.632G>T c.521G>T c.648G>T (p.Gln216His) c.585G>T (p.Gln195His) n.795G>T c.477G>T (p.Gln159His) n.539G>T | gnomAD v4 |
19 | g.17283284C>A | CA404744681 | ANKLE1 | c.520C>A (p.Pro174Thr) n.737C>A c.487C>A (p.Pro163Thr) c.682C>A (p.Pro228Thr) c.*419C>A (n.*419C>A) n.633C>A c.522C>A c.649C>A (p.Pro217Thr) c.586C>A (p.Pro196Thr) n.796C>A c.478C>A (p.Pro160Thr) n.540C>A | |
19 | g.17283284C>G | CA404744682 | ANKLE1 | c.520C>G (p.Pro174Ala) n.737C>G c.487C>G (p.Pro163Ala) c.682C>G (p.Pro228Ala) c.*419C>G (n.*419C>G) n.633C>G c.522C>G c.649C>G (p.Pro217Ala) c.586C>G (p.Pro196Ala) n.796C>G c.478C>G (p.Pro160Ala) n.540C>G | dbSNP |
19 | g.17283284C>T | CA404744680 | ANKLE1 | c.520C>T (p.Pro174Ser) n.737C>T c.487C>T (p.Pro163Ser) c.682C>T (p.Pro228Ser) c.*419C>T (n.*419C>T) n.633C>T c.522C>T c.649C>T (p.Pro217Ser) c.586C>T (p.Pro196Ser) n.796C>T c.478C>T (p.Pro160Ser) n.540C>T | |
19 | g.17283285C>A | CA404744683 | ANKLE1 | c.521C>A (p.Pro174Gln) n.738C>A c.488C>A (p.Pro163Gln) c.683C>A (p.Pro228Gln) c.*420C>A (n.*420C>A) n.634C>A c.523C>A c.650C>A (p.Pro217Gln) c.587C>A (p.Pro196Gln) n.797C>A c.479C>A (p.Pro160Gln) n.541C>A | |
19 | g.17283285C>G | CA404744684 | ANKLE1 | c.521C>G (p.Pro174Arg) n.738C>G c.488C>G (p.Pro163Arg) c.683C>G (p.Pro228Arg) c.*420C>G (n.*420C>G) n.634C>G c.523C>G c.650C>G (p.Pro217Arg) c.587C>G (p.Pro196Arg) n.797C>G c.479C>G (p.Pro160Arg) n.541C>G | |
19 | g.17283285C>T | CA404744685 | ANKLE1 | c.521C>T (p.Pro174Leu) n.738C>T c.488C>T (p.Pro163Leu) c.683C>T (p.Pro228Leu) c.*420C>T (n.*420C>T) n.634C>T c.523C>T c.650C>T (p.Pro217Leu) c.587C>T (p.Pro196Leu) n.797C>T c.479C>T (p.Pro160Leu) n.541C>T | dbSNP |
19 | g.17283286A= | CA2325780452 | ANKLE1 | c.522A= (p.Pro174=) n.739A= c.489A= (p.Pro163=) c.684A= (p.Pro228=) c.*421A= (n.*421A=) n.635A= c.524A= c.651A= (p.Pro217=) c.588A= (p.Pro196=) n.798A= c.480A= (p.Pro160=) n.542A= | |
19 | g.17283286A>C | CA506095551 | ANKLE1 | c.522A>C (p.Pro174=) n.739A>C c.489A>C (p.Pro163=) c.684A>C (p.Pro228=) c.*421A>C (n.*421A>C) n.635A>C c.524A>C c.651A>C (p.Pro217=) c.588A>C (p.Pro196=) n.798A>C c.480A>C (p.Pro160=) n.542A>C | |
19 | g.17283286A>G | CA506095553 | ANKLE1 | c.522A>G (p.Pro174=) n.739A>G c.489A>G (p.Pro163=) c.684A>G (p.Pro228=) c.*421A>G (n.*421A>G) n.635A>G c.524A>G c.651A>G (p.Pro217=) c.588A>G (p.Pro196=) n.798A>G c.480A>G (p.Pro160=) n.542A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283286A>T | CA506095552 | ANKLE1 | c.522A>T (p.Pro174=) n.739A>T c.489A>T (p.Pro163=) c.684A>T (p.Pro228=) c.*421A>T (n.*421A>T) n.635A>T c.524A>T c.651A>T (p.Pro217=) c.588A>T (p.Pro196=) n.798A>T c.480A>T (p.Pro160=) n.542A>T | |
19 | g.17283287T>A | CA404744686 | ANKLE1 | c.523T>A (p.Cys175Ser) n.740T>A c.490T>A (p.Cys164Ser) c.685T>A (p.Cys229Ser) c.*422T>A (n.*422T>A) n.636T>A c.525T>A c.652T>A (p.Cys218Ser) c.589T>A (p.Cys197Ser) n.799T>A c.481T>A (p.Cys161Ser) n.543T>A | |
19 | g.17283287T>C | CA9291125 | ANKLE1 | c.523T>C (p.Cys175Arg) n.740T>C c.490T>C (p.Cys164Arg) c.685T>C (p.Cys229Arg) c.*422T>C (n.*422T>C) n.636T>C c.525T>C c.652T>C (p.Cys218Arg) c.589T>C (p.Cys197Arg) n.799T>C c.481T>C (p.Cys161Arg) n.543T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283287T>G | CA404744687 | ANKLE1 | c.523T>G (p.Cys175Gly) n.740T>G c.490T>G (p.Cys164Gly) c.685T>G (p.Cys229Gly) c.*422T>G (n.*422T>G) n.636T>G c.525T>G c.652T>G (p.Cys218Gly) c.589T>G (p.Cys197Gly) n.799T>G c.481T>G (p.Cys161Gly) n.543T>G | gnomAD v4 |
19 | g.17283287T= | CA2325780453 | ANKLE1 | c.523T= (p.Cys175=) n.740T= c.490T= (p.Cys164=) c.685T= (p.Cys229=) c.*422T= (n.*422T=) n.636T= c.525T= c.652T= (p.Cys218=) c.589T= (p.Cys197=) n.799T= c.481T= (p.Cys161=) n.543T= | |
19 | g.17283288G>A | CA404744688 | ANKLE1 | c.524G>A (p.Cys175Tyr) n.741G>A c.491G>A (p.Cys164Tyr) c.686G>A (p.Cys229Tyr) c.*423G>A (n.*423G>A) n.637G>A c.526G>A c.653G>A (p.Cys218Tyr) c.590G>A (p.Cys197Tyr) n.800G>A c.482G>A (p.Cys161Tyr) n.544G>A | gnomAD v4 |
19 | g.17283288G>C | CA404744690 | ANKLE1 | c.524G>C (p.Cys175Ser) n.741G>C c.491G>C (p.Cys164Ser) c.686G>C (p.Cys229Ser) c.*423G>C (n.*423G>C) n.637G>C c.526G>C c.653G>C (p.Cys218Ser) c.590G>C (p.Cys197Ser) n.800G>C c.482G>C (p.Cys161Ser) n.544G>C | |
19 | g.17283288G>T | CA404744689 | ANKLE1 | c.524G>T (p.Cys175Phe) n.741G>T c.491G>T (p.Cys164Phe) c.686G>T (p.Cys229Phe) c.*423G>T (n.*423G>T) n.637G>T c.526G>T c.653G>T (p.Cys218Phe) c.590G>T (p.Cys197Phe) n.800G>T c.482G>T (p.Cys161Phe) n.544G>T | |
19 | g.17283289C>A | CA404744691 | ANKLE1 | c.525C>A (p.Cys175Ter) n.742C>A c.492C>A (p.Cys164Ter) c.687C>A (p.Cys229Ter) c.*424C>A (n.*424C>A) n.638C>A c.527C>A c.654C>A (p.Cys218Ter) c.591C>A (p.Cys197Ter) n.801C>A c.483C>A (p.Cys161Ter) n.545C>A | |
19 | g.17283289C= | CA2325780454 | ANKLE1 | c.525C= (p.Cys175=) n.742C= c.492C= (p.Cys164=) c.687C= (p.Cys229=) c.*424C= (n.*424C=) n.638C= c.527C= c.654C= (p.Cys218=) c.591C= (p.Cys197=) n.801C= c.483C= (p.Cys161=) n.545C= | |
19 | g.17283289C>G | CA9291126 | ANKLE1 | c.525C>G (p.Cys175Trp) n.742C>G c.492C>G (p.Cys164Trp) c.687C>G (p.Cys229Trp) c.*424C>G (n.*424C>G) n.638C>G c.527C>G c.654C>G (p.Cys218Trp) c.591C>G (p.Cys197Trp) n.801C>G c.483C>G (p.Cys161Trp) n.545C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283289C>T | CA506095554 | ANKLE1 | c.525C>T (p.Cys175=) n.742C>T c.492C>T (p.Cys164=) c.687C>T (p.Cys229=) c.*424C>T (n.*424C>T) n.638C>T c.527C>T c.654C>T (p.Cys218=) c.591C>T (p.Cys197=) n.801C>T c.483C>T (p.Cys161=) n.545C>T | gnomAD v4 |
19 | g.17283290A= | CA2325780455 | ANKLE1 | c.526A= (p.Arg176=) n.743A= c.493A= (p.Arg165=) c.688A= (p.Arg230=) c.*425A= (n.*425A=) n.639A= c.528A= c.655A= (p.Arg219=) c.592A= (p.Arg198=) n.802A= c.484A= (p.Arg162=) n.546A= | |
19 | g.17283290A>C | CA506095555 | ANKLE1 | c.526A>C (p.Arg176=) n.743A>C c.493A>C (p.Arg165=) c.688A>C (p.Arg230=) c.*425A>C (n.*425A>C) n.639A>C c.528A>C c.655A>C (p.Arg219=) c.592A>C (p.Arg198=) n.802A>C c.484A>C (p.Arg162=) n.546A>C | |
19 | g.17283290A>G | CA404744692 | ANKLE1 | c.526A>G (p.Arg176Gly) n.743A>G c.493A>G (p.Arg165Gly) c.688A>G (p.Arg230Gly) c.*425A>G (n.*425A>G) n.639A>G c.528A>G c.655A>G (p.Arg219Gly) c.592A>G (p.Arg198Gly) n.802A>G c.484A>G (p.Arg162Gly) n.546A>G | |
19 | g.17283290A>T | CA404744693 | ANKLE1 | c.526A>T (p.Arg176Ter) n.743A>T c.493A>T (p.Arg165Ter) c.688A>T (p.Arg230Ter) c.*425A>T (n.*425A>T) n.639A>T c.528A>T c.655A>T (p.Arg219Ter) c.592A>T (p.Arg198Ter) n.802A>T c.484A>T (p.Arg162Ter) n.546A>T | dbSNP |
19 | g.17283291G>A | CA404744696 | ANKLE1 | c.527G>A (p.Arg176Lys) n.744G>A c.494G>A (p.Arg165Lys) c.689G>A (p.Arg230Lys) c.*426G>A (n.*426G>A) n.640G>A c.529G>A c.656G>A (p.Arg219Lys) c.593G>A (p.Arg198Lys) n.803G>A c.485G>A (p.Arg162Lys) n.547G>A | |
19 | g.17283291G>C | CA404744695 | ANKLE1 | c.527G>C (p.Arg176Thr) n.744G>C c.494G>C (p.Arg165Thr) c.689G>C (p.Arg230Thr) c.*426G>C (n.*426G>C) n.640G>C c.529G>C c.656G>C (p.Arg219Thr) c.593G>C (p.Arg198Thr) n.803G>C c.485G>C (p.Arg162Thr) n.547G>C | |
19 | g.17283291G>T | CA404744694 | ANKLE1 | c.527G>T (p.Arg176Ile) n.744G>T c.494G>T (p.Arg165Ile) c.689G>T (p.Arg230Ile) c.*426G>T (n.*426G>T) n.640G>T c.529G>T c.656G>T (p.Arg219Ile) c.593G>T (p.Arg198Ile) n.803G>T c.485G>T (p.Arg162Ile) n.547G>T | |
19 | g.17283292A>C | CA404744697 | ANKLE1 | c.528A>C (p.Arg176Ser) n.745A>C c.495A>C (p.Arg165Ser) c.690A>C (p.Arg230Ser) c.*427A>C (n.*427A>C) n.641A>C c.530A>C c.657A>C (p.Arg219Ser) c.594A>C (p.Arg198Ser) n.804A>C c.486A>C (p.Arg162Ser) n.548A>C | |
19 | g.17283292A>G | CA506095556 | ANKLE1 | c.528A>G (p.Arg176=) n.745A>G c.495A>G (p.Arg165=) c.690A>G (p.Arg230=) c.*427A>G (n.*427A>G) n.641A>G c.530A>G c.657A>G (p.Arg219=) c.594A>G (p.Arg198=) n.804A>G c.486A>G (p.Arg162=) n.548A>G | |
19 | g.17283292A>T | CA404744698 | ANKLE1 | c.528A>T (p.Arg176Ser) n.745A>T c.495A>T (p.Arg165Ser) c.690A>T (p.Arg230Ser) c.*427A>T (n.*427A>T) n.641A>T c.530A>T c.657A>T (p.Arg219Ser) c.594A>T (p.Arg198Ser) n.804A>T c.486A>T (p.Arg162Ser) n.548A>T | |
19 | g.17283293G>A | CA404744699 | ANKLE1 | c.529G>A (p.Gly177Ser) n.746G>A c.496G>A (p.Gly166Ser) c.691G>A (p.Gly231Ser) c.*428G>A (n.*428G>A) n.642G>A c.531G>A c.658G>A (p.Gly220Ser) c.595G>A (p.Gly199Ser) n.805G>A c.487G>A (p.Gly163Ser) n.549G>A | gnomAD v4 |
19 | g.17283293G>C | CA404744700 | ANKLE1 | c.529G>C (p.Gly177Arg) n.746G>C c.496G>C (p.Gly166Arg) c.691G>C (p.Gly231Arg) c.*428G>C (n.*428G>C) n.642G>C c.531G>C c.658G>C (p.Gly220Arg) c.595G>C (p.Gly199Arg) n.805G>C c.487G>C (p.Gly163Arg) n.549G>C | |
19 | g.17283293G>T | CA404744701 | ANKLE1 | c.529G>T (p.Gly177Cys) n.746G>T c.496G>T (p.Gly166Cys) c.691G>T (p.Gly231Cys) c.*428G>T (n.*428G>T) n.642G>T c.531G>T c.658G>T (p.Gly220Cys) c.595G>T (p.Gly199Cys) n.805G>T c.487G>T (p.Gly163Cys) n.549G>T | |
19 | g.17283294G>A | CA404744702 | ANKLE1 | c.530G>A (p.Gly177Asp) n.747G>A c.497G>A (p.Gly166Asp) c.692G>A (p.Gly231Asp) c.*429G>A (n.*429G>A) n.643G>A c.532G>A c.659G>A (p.Gly220Asp) c.596G>A (p.Gly199Asp) n.806G>A c.488G>A (p.Gly163Asp) n.550G>A | dbSNP |
19 | g.17283294G>C | CA404744703 | ANKLE1 | c.530G>C (p.Gly177Ala) n.747G>C c.497G>C (p.Gly166Ala) c.692G>C (p.Gly231Ala) c.*429G>C (n.*429G>C) n.643G>C c.532G>C c.659G>C (p.Gly220Ala) c.596G>C (p.Gly199Ala) n.806G>C c.488G>C (p.Gly163Ala) n.550G>C | |
19 | g.17283294G= | CA2325780456 | ANKLE1 | c.530G= (p.Gly177=) n.747G= c.497G= (p.Gly166=) c.692G= (p.Gly231=) c.*429G= (n.*429G=) n.643G= c.532G= c.659G= (p.Gly220=) c.596G= (p.Gly199=) n.806G= c.488G= (p.Gly163=) n.550G= | |
19 | g.17283294G>T | CA404744704 | ANKLE1 | c.530G>T (p.Gly177Val) n.747G>T c.497G>T (p.Gly166Val) c.692G>T (p.Gly231Val) c.*429G>T (n.*429G>T) n.643G>T c.532G>T c.659G>T (p.Gly220Val) c.596G>T (p.Gly199Val) n.806G>T c.488G>T (p.Gly163Val) n.550G>T | dbSNP gnomAD v4 |
19 | g.17283295T>A | CA506095559 | ANKLE1 | c.531T>A (p.Gly177=) n.748T>A c.498T>A (p.Gly166=) c.693T>A (p.Gly231=) c.*430T>A (n.*430T>A) n.644T>A c.533T>A c.660T>A (p.Gly220=) c.597T>A (p.Gly199=) n.807T>A c.489T>A (p.Gly163=) n.551T>A | |
19 | g.17283295T>C | CA506095558 | ANKLE1 | c.531T>C (p.Gly177=) n.748T>C c.498T>C (p.Gly166=) c.693T>C (p.Gly231=) c.*430T>C (n.*430T>C) n.644T>C c.533T>C c.660T>C (p.Gly220=) c.597T>C (p.Gly199=) n.807T>C c.489T>C (p.Gly163=) n.551T>C | |
19 | g.17283295T>G | CA506095557 | ANKLE1 | c.531T>G (p.Gly177=) n.748T>G c.498T>G (p.Gly166=) c.693T>G (p.Gly231=) c.*430T>G (n.*430T>G) n.644T>G c.533T>G c.660T>G (p.Gly220=) c.597T>G (p.Gly199=) n.807T>G c.489T>G (p.Gly163=) n.551T>G | |
19 | g.17283296G>A | CA404744705 | ANKLE1 | c.532G>A (p.Asp178Asn) n.749G>A c.499G>A (p.Asp167Asn) c.694G>A (p.Asp232Asn) c.*431G>A (n.*431G>A) n.645G>A c.534G>A c.661G>A (p.Asp221Asn) c.598G>A (p.Asp200Asn) n.808G>A c.490G>A (p.Asp164Asn) n.552G>A | |
19 | g.17283296G>C | CA404744706 | ANKLE1 | c.532G>C (p.Asp178His) n.749G>C c.499G>C (p.Asp167His) c.694G>C (p.Asp232His) c.*431G>C (n.*431G>C) n.645G>C c.534G>C c.661G>C (p.Asp221His) c.598G>C (p.Asp200His) n.808G>C c.490G>C (p.Asp164His) n.552G>C | |
19 | g.17283296G>T | CA404744707 | ANKLE1 | c.532G>T (p.Asp178Tyr) n.749G>T c.499G>T (p.Asp167Tyr) c.694G>T (p.Asp232Tyr) c.*431G>T (n.*431G>T) n.645G>T c.534G>T c.661G>T (p.Asp221Tyr) c.598G>T (p.Asp200Tyr) n.808G>T c.490G>T (p.Asp164Tyr) n.552G>T | |
19 | g.17283297A>C | CA404744708 | ANKLE1 | c.533A>C (p.Asp178Ala) n.750A>C c.500A>C (p.Asp167Ala) c.695A>C (p.Asp232Ala) c.*432A>C (n.*432A>C) n.646A>C c.535A>C c.662A>C (p.Asp221Ala) c.599A>C (p.Asp200Ala) n.809A>C c.491A>C (p.Asp164Ala) n.553A>C | |
19 | g.17283297A>G | CA404744709 | ANKLE1 | c.533A>G (p.Asp178Gly) n.750A>G c.500A>G (p.Asp167Gly) c.695A>G (p.Asp232Gly) c.*432A>G (n.*432A>G) n.646A>G c.535A>G c.662A>G (p.Asp221Gly) c.599A>G (p.Asp200Gly) n.809A>G c.491A>G (p.Asp164Gly) n.553A>G | |
19 | g.17283297A>T | CA404744710 | ANKLE1 | c.533A>T (p.Asp178Val) n.750A>T c.500A>T (p.Asp167Val) c.695A>T (p.Asp232Val) c.*432A>T (n.*432A>T) n.646A>T c.535A>T c.662A>T (p.Asp221Val) c.599A>T (p.Asp200Val) n.809A>T c.491A>T (p.Asp164Val) n.553A>T | |
19 | g.17283298C>A | CA404744712 | ANKLE1 | c.534C>A (p.Asp178Glu) n.751C>A c.501C>A (p.Asp167Glu) c.696C>A (p.Asp232Glu) c.*433C>A (n.*433C>A) n.647C>A c.536C>A c.663C>A (p.Asp221Glu) c.600C>A (p.Asp200Glu) n.810C>A c.492C>A (p.Asp164Glu) n.554C>A | |
19 | g.17283298C>G | CA404744711 | ANKLE1 | c.534C>G (p.Asp178Glu) n.751C>G c.501C>G (p.Asp167Glu) c.696C>G (p.Asp232Glu) c.*433C>G (n.*433C>G) n.647C>G c.536C>G c.663C>G (p.Asp221Glu) c.600C>G (p.Asp200Glu) n.810C>G c.492C>G (p.Asp164Glu) n.554C>G | |
19 | g.17283298C>T | CA506095560 | ANKLE1 | c.534C>T (p.Asp178=) n.751C>T c.501C>T (p.Asp167=) c.696C>T (p.Asp232=) c.*433C>T (n.*433C>T) n.647C>T c.536C>T c.663C>T (p.Asp221=) c.600C>T (p.Asp200=) n.810C>T c.492C>T (p.Asp164=) n.554C>T | gnomAD v4 |
19 | g.17283299A= | CA2325780457 | ANKLE1 | c.535A= (p.Asn179=) n.752A= c.502A= (p.Asn168=) c.697A= (p.Asn233=) c.*434A= (n.*434A=) n.648A= c.537A= c.664A= (p.Asn222=) c.601A= (p.Asn201=) n.811A= c.493A= (p.Asn165=) n.555A= | |
19 | g.17283299A>C | CA404744713 | ANKLE1 | c.535A>C (p.Asn179His) n.752A>C c.502A>C (p.Asn168His) c.697A>C (p.Asn233His) c.*434A>C (n.*434A>C) n.648A>C c.537A>C c.664A>C (p.Asn222His) c.601A>C (p.Asn201His) n.811A>C c.493A>C (p.Asn165His) n.555A>C | |
19 | g.17283299A>G | CA404744714 | ANKLE1 | c.535A>G (p.Asn179Asp) n.752A>G c.502A>G (p.Asn168Asp) c.697A>G (p.Asn233Asp) c.*434A>G (n.*434A>G) n.648A>G c.537A>G c.664A>G (p.Asn222Asp) c.601A>G (p.Asn201Asp) n.811A>G c.493A>G (p.Asn165Asp) n.555A>G | dbSNP |
19 | g.17283299A>T | CA404744715 | ANKLE1 | c.535A>T (p.Asn179Tyr) n.752A>T c.502A>T (p.Asn168Tyr) c.697A>T (p.Asn233Tyr) c.*434A>T (n.*434A>T) n.648A>T c.537A>T c.664A>T (p.Asn222Tyr) c.601A>T (p.Asn201Tyr) n.811A>T c.493A>T (p.Asn165Tyr) n.555A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283300A= | CA2325780458 | ANKLE1 | c.536A= (p.Asn179=) n.753A= c.503A= (p.Asn168=) c.698A= (p.Asn233=) c.*435A= (n.*435A=) n.649A= c.538A= c.665A= (p.Asn222=) c.602A= (p.Asn201=) n.812A= c.494A= (p.Asn165=) n.556A= | |
19 | g.17283300A>C | CA404744716 | ANKLE1 | c.536A>C (p.Asn179Thr) n.753A>C c.503A>C (p.Asn168Thr) c.698A>C (p.Asn233Thr) c.*435A>C (n.*435A>C) n.649A>C c.538A>C c.665A>C (p.Asn222Thr) c.602A>C (p.Asn201Thr) n.812A>C c.494A>C (p.Asn165Thr) n.556A>C | |
19 | g.17283300A>G | CA9291127 | ANKLE1 | c.536A>G (p.Asn179Ser) n.753A>G c.503A>G (p.Asn168Ser) c.698A>G (p.Asn233Ser) c.*435A>G (n.*435A>G) n.649A>G c.538A>G c.665A>G (p.Asn222Ser) c.602A>G (p.Asn201Ser) n.812A>G c.494A>G (p.Asn165Ser) n.556A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283300A>T | CA404744717 | ANKLE1 | c.536A>T (p.Asn179Ile) n.753A>T c.503A>T (p.Asn168Ile) c.698A>T (p.Asn233Ile) c.*435A>T (n.*435A>T) n.649A>T c.538A>T c.665A>T (p.Asn222Ile) c.602A>T (p.Asn201Ile) n.812A>T c.494A>T (p.Asn165Ile) n.556A>T | |
19 | g.17283301C>A | CA404744718 | ANKLE1 | c.537C>A (p.Asn179Lys) n.754C>A c.504C>A (p.Asn168Lys) c.699C>A (p.Asn233Lys) c.*436C>A (n.*436C>A) n.650C>A c.539C>A c.666C>A (p.Asn222Lys) c.603C>A (p.Asn201Lys) n.813C>A c.495C>A (p.Asn165Lys) n.557C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283301C>G | CA404744719 | ANKLE1 | c.537C>G (p.Asn179Lys) n.754C>G c.504C>G (p.Asn168Lys) c.699C>G (p.Asn233Lys) c.*436C>G (n.*436C>G) n.650C>G c.539C>G c.666C>G (p.Asn222Lys) c.603C>G (p.Asn201Lys) n.813C>G c.495C>G (p.Asn165Lys) n.557C>G | |
19 | g.17283301C>T | CA506095561 | ANKLE1 | c.537C>T (p.Asn179=) n.754C>T c.504C>T (p.Asn168=) c.699C>T (p.Asn233=) c.*436C>T (n.*436C>T) n.650C>T c.539C>T c.666C>T (p.Asn222=) c.603C>T (p.Asn201=) n.813C>T c.495C>T (p.Asn165=) n.557C>T | |
19 | g.17283302A>C | CA506095562 | ANKLE1 | c.538A>C (p.Arg180=) n.755A>C c.505A>C (p.Arg169=) c.700A>C (p.Arg234=) c.*437A>C (n.*437A>C) n.651A>C c.540A>C c.667A>C (p.Arg223=) c.604A>C (p.Arg202=) n.814A>C c.496A>C (p.Arg166=) n.558A>C | |
19 | g.17283302A>G | CA404744720 | ANKLE1 | c.538A>G (p.Arg180Gly) n.755A>G c.505A>G (p.Arg169Gly) c.700A>G (p.Arg234Gly) c.*437A>G (n.*437A>G) n.651A>G c.540A>G c.667A>G (p.Arg223Gly) c.604A>G (p.Arg202Gly) n.814A>G c.496A>G (p.Arg166Gly) n.558A>G | |
19 | g.17283302A>T | CA404744721 | ANKLE1 | c.538A>T (p.Arg180Trp) n.755A>T c.505A>T (p.Arg169Trp) c.700A>T (p.Arg234Trp) c.*437A>T (n.*437A>T) n.651A>T c.540A>T c.667A>T (p.Arg223Trp) c.604A>T (p.Arg202Trp) n.814A>T c.496A>T (p.Arg166Trp) n.558A>T | |
19 | g.17283303G>A | CA404744722 | ANKLE1 | c.539G>A (p.Arg180Lys) n.756G>A c.506G>A (p.Arg169Lys) c.701G>A (p.Arg234Lys) c.*438G>A (n.*438G>A) n.652G>A c.541G>A c.668G>A (p.Arg223Lys) c.605G>A (p.Arg202Lys) n.815G>A c.497G>A (p.Arg166Lys) n.559G>A | dbSNP |
19 | g.17283303G>C | CA404744723 | ANKLE1 | c.539G>C (p.Arg180Thr) n.756G>C c.506G>C (p.Arg169Thr) c.701G>C (p.Arg234Thr) c.*438G>C (n.*438G>C) n.652G>C c.541G>C c.668G>C (p.Arg223Thr) c.605G>C (p.Arg202Thr) n.815G>C c.497G>C (p.Arg166Thr) n.559G>C | |
19 | g.17283303G= | CA2325780459 | ANKLE1 | c.539G= (p.Arg180=) n.756G= c.506G= (p.Arg169=) c.701G= (p.Arg234=) c.*438G= (n.*438G=) n.652G= c.541G= c.668G= (p.Arg223=) c.605G= (p.Arg202=) n.815G= c.497G= (p.Arg166=) n.559G= | |
19 | g.17283303G>T | CA404744724 | ANKLE1 | c.539G>T (p.Arg180Met) n.756G>T c.506G>T (p.Arg169Met) c.701G>T (p.Arg234Met) c.*438G>T (n.*438G>T) n.652G>T c.541G>T c.668G>T (p.Arg223Met) c.605G>T (p.Arg202Met) n.815G>T c.497G>T (p.Arg166Met) n.559G>T | |
19 | g.17283304G>A | CA9291128 | ANKLE1 | c.540G>A (p.Arg180=) n.757G>A c.507G>A (p.Arg169=) c.702G>A (p.Arg234=) c.*439G>A (n.*439G>A) n.653G>A c.542G>A c.669G>A (p.Arg223=) c.606G>A (p.Arg202=) n.816G>A c.498G>A (p.Arg166=) n.560G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283304G>C | CA404744725 | ANKLE1 | c.540G>C (p.Arg180Ser) n.757G>C c.507G>C (p.Arg169Ser) c.702G>C (p.Arg234Ser) c.*439G>C (n.*439G>C) n.653G>C c.542G>C c.669G>C (p.Arg223Ser) c.606G>C (p.Arg202Ser) n.816G>C c.498G>C (p.Arg166Ser) n.560G>C | |
19 | g.17283304G= | CA2325780460 | ANKLE1 | c.540G= (p.Arg180=) n.757G= c.507G= (p.Arg169=) c.702G= (p.Arg234=) c.*439G= (n.*439G=) n.653G= c.542G= c.669G= (p.Arg223=) c.606G= (p.Arg202=) n.816G= c.498G= (p.Arg166=) n.560G= | |
19 | g.17283304G>T | CA404744726 | ANKLE1 | c.540G>T (p.Arg180Ser) n.757G>T c.507G>T (p.Arg169Ser) c.702G>T (p.Arg234Ser) c.*439G>T (n.*439G>T) n.653G>T c.542G>T c.669G>T (p.Arg223Ser) c.606G>T (p.Arg202Ser) n.816G>T c.498G>T (p.Arg166Ser) n.560G>T | |
19 | g.17283305G>A | CA404744727 | ANKLE1 | c.541G>A (p.Asp181Asn) n.758G>A c.508G>A (p.Asp170Asn) c.703G>A (p.Asp235Asn) c.*440G>A (n.*440G>A) n.654G>A c.543G>A c.670G>A (p.Asp224Asn) c.607G>A (p.Asp203Asn) n.817G>A c.499G>A (p.Asp167Asn) n.561G>A | |
19 | g.17283305G>C | CA404744728 | ANKLE1 | c.541G>C (p.Asp181His) n.758G>C c.508G>C (p.Asp170His) c.703G>C (p.Asp235His) c.*440G>C (n.*440G>C) n.654G>C c.543G>C c.670G>C (p.Asp224His) c.607G>C (p.Asp203His) n.817G>C c.499G>C (p.Asp167His) n.561G>C | |
19 | g.17283305G>T | CA404744729 | ANKLE1 | c.541G>T (p.Asp181Tyr) n.758G>T c.508G>T (p.Asp170Tyr) c.703G>T (p.Asp235Tyr) c.*440G>T (n.*440G>T) n.654G>T c.543G>T c.670G>T (p.Asp224Tyr) c.607G>T (p.Asp203Tyr) n.817G>T c.499G>T (p.Asp167Tyr) n.561G>T | |
19 | g.17283306A>C | CA404744730 | ANKLE1 | c.542A>C (p.Asp181Ala) n.759A>C c.509A>C (p.Asp170Ala) c.704A>C (p.Asp235Ala) c.*441A>C (n.*441A>C) n.655A>C c.544A>C c.671A>C (p.Asp224Ala) c.608A>C (p.Asp203Ala) n.818A>C c.500A>C (p.Asp167Ala) n.562A>C | |
19 | g.17283306A>G | CA404744731 | ANKLE1 | c.542A>G (p.Asp181Gly) n.759A>G c.509A>G (p.Asp170Gly) c.704A>G (p.Asp235Gly) c.*441A>G (n.*441A>G) n.655A>G c.544A>G c.671A>G (p.Asp224Gly) c.608A>G (p.Asp203Gly) n.818A>G c.500A>G (p.Asp167Gly) n.562A>G | |
19 | g.17283306A>T | CA404744732 | ANKLE1 | c.542A>T (p.Asp181Val) n.759A>T c.509A>T (p.Asp170Val) c.704A>T (p.Asp235Val) c.*441A>T (n.*441A>T) n.655A>T c.544A>T c.671A>T (p.Asp224Val) c.608A>T (p.Asp203Val) n.818A>T c.500A>T (p.Asp167Val) n.562A>T | |
19 | g.17283307C>A | CA404744733 | ANKLE1 | c.543C>A (p.Asp181Glu) n.760C>A c.510C>A (p.Asp170Glu) c.705C>A (p.Asp235Glu) c.*442C>A (n.*442C>A) n.656C>A c.545C>A c.672C>A (p.Asp224Glu) c.609C>A (p.Asp203Glu) n.819C>A c.501C>A (p.Asp167Glu) n.563C>A | |
19 | g.17283307C>G | CA404744734 | ANKLE1 | c.543C>G (p.Asp181Glu) n.760C>G c.510C>G (p.Asp170Glu) c.705C>G (p.Asp235Glu) c.*442C>G (n.*442C>G) n.656C>G c.545C>G c.672C>G (p.Asp224Glu) c.609C>G (p.Asp203Glu) n.819C>G c.501C>G (p.Asp167Glu) n.563C>G | |
19 | g.17283307C>T | CA506095563 | ANKLE1 | c.543C>T (p.Asp181=) n.760C>T c.510C>T (p.Asp170=) c.705C>T (p.Asp235=) c.*442C>T (n.*442C>T) n.656C>T c.545C>T c.672C>T (p.Asp224=) c.609C>T (p.Asp203=) n.819C>T c.501C>T (p.Asp167=) n.563C>T | |
19 | g.17283308A>C | CA404744735 | ANKLE1 | c.544A>C (p.Ile182Leu) n.761A>C c.511A>C (p.Ile171Leu) c.706A>C (p.Ile236Leu) c.*443A>C (n.*443A>C) n.657A>C c.546A>C c.673A>C (p.Ile225Leu) c.610A>C (p.Ile204Leu) n.820A>C c.502A>C (p.Ile168Leu) n.564A>C | |
19 | g.17283308A>G | CA404744737 | ANKLE1 | c.544A>G (p.Ile182Val) n.761A>G c.511A>G (p.Ile171Val) c.706A>G (p.Ile236Val) c.*443A>G (n.*443A>G) n.657A>G c.546A>G c.673A>G (p.Ile225Val) c.610A>G (p.Ile204Val) n.820A>G c.502A>G (p.Ile168Val) n.564A>G | |
19 | g.17283308A>T | CA404744736 | ANKLE1 | c.544A>T (p.Ile182Phe) n.761A>T c.511A>T (p.Ile171Phe) c.706A>T (p.Ile236Phe) c.*443A>T (n.*443A>T) n.657A>T c.546A>T c.673A>T (p.Ile225Phe) c.610A>T (p.Ile204Phe) n.820A>T c.502A>T (p.Ile168Phe) n.564A>T | |
19 | g.17283309T>A | CA404744738 | ANKLE1 | c.545T>A (p.Ile182Asn) n.762T>A c.512T>A (p.Ile171Asn) c.707T>A (p.Ile236Asn) c.*444T>A (n.*444T>A) n.658T>A c.547T>A c.674T>A (p.Ile225Asn) c.611T>A (p.Ile204Asn) n.821T>A c.503T>A (p.Ile168Asn) n.565T>A | |
19 | g.17283309T>C | CA9291129 | ANKLE1 | c.545T>C (p.Ile182Thr) n.762T>C c.512T>C (p.Ile171Thr) c.707T>C (p.Ile236Thr) c.*444T>C (n.*444T>C) n.658T>C c.547T>C c.674T>C (p.Ile225Thr) c.611T>C (p.Ile204Thr) n.821T>C c.503T>C (p.Ile168Thr) n.565T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283309T>G | CA404744739 | ANKLE1 | c.545T>G (p.Ile182Ser) n.762T>G c.512T>G (p.Ile171Ser) c.707T>G (p.Ile236Ser) c.*444T>G (n.*444T>G) n.658T>G c.547T>G c.674T>G (p.Ile225Ser) c.611T>G (p.Ile204Ser) n.821T>G c.503T>G (p.Ile168Ser) n.565T>G | |
19 | g.17283309T= | CA2325780461 | ANKLE1 | c.545T= (p.Ile182=) n.762T= c.512T= (p.Ile171=) c.707T= (p.Ile236=) c.*444T= (n.*444T=) n.658T= c.547T= c.674T= (p.Ile225=) c.611T= (p.Ile204=) n.821T= c.503T= (p.Ile168=) n.565T= | |
19 | g.17283310T>A | CA506095567 | ANKLE1 | c.546T>A (p.Ile182=) n.763T>A c.513T>A (p.Ile171=) c.708T>A (p.Ile236=) c.*445T>A (n.*445T>A) n.659T>A c.548T>A c.675T>A (p.Ile225=) c.612T>A (p.Ile204=) n.822T>A c.504T>A (p.Ile168=) n.566T>A | |
19 | g.17283310T>C | CA506095568 | ANKLE1 | c.546T>C (p.Ile182=) n.763T>C c.513T>C (p.Ile171=) c.708T>C (p.Ile236=) c.*445T>C (n.*445T>C) n.659T>C c.548T>C c.675T>C (p.Ile225=) c.612T>C (p.Ile204=) n.822T>C c.504T>C (p.Ile168=) n.566T>C | |
19 | g.17283310T>G | CA404744740 | ANKLE1 | c.546T>G (p.Ile182Met) n.763T>G c.513T>G (p.Ile171Met) c.708T>G (p.Ile236Met) c.*445T>G (n.*445T>G) n.659T>G c.548T>G c.675T>G (p.Ile225Met) c.612T>G (p.Ile204Met) n.822T>G c.504T>G (p.Ile168Met) n.566T>G | |
19 | g.17283311G>A | CA404744743 | ANKLE1 | c.547G>A (p.Gly183Ser) n.764G>A c.514G>A (p.Gly172Ser) c.709G>A (p.Gly237Ser) c.*446G>A (n.*446G>A) n.660G>A c.549G>A c.676G>A (p.Gly226Ser) c.613G>A (p.Gly205Ser) n.823G>A c.505G>A (p.Gly169Ser) n.567G>A | dbSNP gnomAD v4 |
19 | g.17283311G>C | CA404744741 | ANKLE1 | c.547G>C (p.Gly183Arg) n.764G>C c.514G>C (p.Gly172Arg) c.709G>C (p.Gly237Arg) c.*446G>C (n.*446G>C) n.660G>C c.549G>C c.676G>C (p.Gly226Arg) c.613G>C (p.Gly205Arg) n.823G>C c.505G>C (p.Gly169Arg) n.567G>C | |
19 | g.17283311G= | CA2325780462 | ANKLE1 | c.547G= (p.Gly183=) n.764G= c.514G= (p.Gly172=) c.709G= (p.Gly237=) c.*446G= (n.*446G=) n.660G= c.549G= c.676G= (p.Gly226=) c.613G= (p.Gly205=) n.823G= c.505G= (p.Gly169=) n.567G= | |
19 | g.17283311G>T | CA404744742 | ANKLE1 | c.547G>T (p.Gly183Cys) n.764G>T c.514G>T (p.Gly172Cys) c.709G>T (p.Gly237Cys) c.*446G>T (n.*446G>T) n.660G>T c.549G>T c.676G>T (p.Gly226Cys) c.613G>T (p.Gly205Cys) n.823G>T c.505G>T (p.Gly169Cys) n.567G>T | |
19 | g.17283312del | CA2842410907 | ANKLE1 | c.548del (p.Gly183AlafsTer?) n.765del c.515del (p.Gly172AlafsTer?) c.710del (p.Gly237AlafsTer?) c.*447del (n.*447del) n.661del c.550del c.677del (p.Gly226AlafsTer?) c.614del (p.Gly205AlafsTer?) n.824del c.506del (p.Gly169AlafsTer?) n.568del | |
19 | g.17283312G>A | CA404744744 | ANKLE1 | c.548G>A (p.Gly183Asp) n.765G>A c.515G>A (p.Gly172Asp) c.710G>A (p.Gly237Asp) c.*447G>A (n.*447G>A) n.661G>A c.550G>A c.677G>A (p.Gly226Asp) c.614G>A (p.Gly205Asp) n.824G>A c.506G>A (p.Gly169Asp) n.568G>A | |
19 | g.17283312G>C | CA404744745 | ANKLE1 | c.548G>C (p.Gly183Ala) n.765G>C c.515G>C (p.Gly172Ala) c.710G>C (p.Gly237Ala) c.*447G>C (n.*447G>C) n.661G>C c.550G>C c.677G>C (p.Gly226Ala) c.614G>C (p.Gly205Ala) n.824G>C c.506G>C (p.Gly169Ala) n.568G>C | |
19 | g.17283312G= | CA2325780463 | ANKLE1 | c.548G= (p.Gly183=) n.765G= c.515G= (p.Gly172=) c.710G= (p.Gly237=) c.*447G= (n.*447G=) n.661G= c.550G= c.677G= (p.Gly226=) c.614G= (p.Gly205=) n.824G= c.506G= (p.Gly169=) n.568G= | |
19 | g.17283312G>T | CA404744746 | ANKLE1 | c.548G>T (p.Gly183Val) n.765G>T c.515G>T (p.Gly172Val) c.710G>T (p.Gly237Val) c.*447G>T (n.*447G>T) n.661G>T c.550G>T c.677G>T (p.Gly226Val) c.614G>T (p.Gly205Val) n.824G>T c.506G>T (p.Gly169Val) n.568G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.17283313C>A | CA506095571 | ANKLE1 | c.549C>A (p.Gly183=) n.766C>A c.516C>A (p.Gly172=) c.711C>A (p.Gly237=) c.*448C>A (n.*448C>A) n.662C>A c.551C>A c.678C>A (p.Gly226=) c.615C>A (p.Gly205=) n.825C>A c.507C>A (p.Gly169=) n.569C>A | |
19 | g.17283313C= | CA2325780464 | ANKLE1 | c.549C= (p.Gly183=) n.766C= c.516C= (p.Gly172=) c.711C= (p.Gly237=) c.*448C= (n.*448C=) n.662C= c.551C= c.678C= (p.Gly226=) c.615C= (p.Gly205=) n.825C= c.507C= (p.Gly169=) n.569C= | |
19 | g.17283313C>G | CA506095572 | ANKLE1 | c.549C>G (p.Gly183=) n.766C>G c.516C>G (p.Gly172=) c.711C>G (p.Gly237=) c.*448C>G (n.*448C>G) n.662C>G c.551C>G c.678C>G (p.Gly226=) c.615C>G (p.Gly205=) n.825C>G c.507C>G (p.Gly169=) n.569C>G | |
19 | g.17283313C>T | CA506095573 | ANKLE1 | c.549C>T (p.Gly183=) n.766C>T c.516C>T (p.Gly172=) c.711C>T (p.Gly237=) c.*448C>T (n.*448C>T) n.662C>T c.551C>T c.678C>T (p.Gly226=) c.615C>T (p.Gly205=) n.825C>T c.507C>T (p.Gly169=) n.569C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.17283314T>A | CA404744747 | ANKLE1 | c.550T>A (p.Leu184Met) n.767T>A c.517T>A (p.Leu173Met) c.712T>A (p.Leu238Met) c.*449T>A (n.*449T>A) n.663T>A c.552T>A c.679T>A (p.Leu227Met) c.616T>A (p.Leu206Met) n.826T>A c.508T>A (p.Leu170Met) n.570T>A | |
19 | g.17283314T>C | CA506095574 | ANKLE1 | c.550T>C (p.Leu184=) n.767T>C c.517T>C (p.Leu173=) c.712T>C (p.Leu238=) c.*449T>C (n.*449T>C) n.663T>C c.552T>C c.679T>C (p.Leu227=) c.616T>C (p.Leu206=) n.826T>C c.508T>C (p.Leu170=) n.570T>C | gnomAD v4 |
19 | g.17283314T>G | CA404744748 | ANKLE1 | c.550T>G (p.Leu184Val) n.767T>G c.517T>G (p.Leu173Val) c.712T>G (p.Leu238Val) c.*449T>G (n.*449T>G) n.663T>G c.552T>G c.679T>G (p.Leu227Val) c.616T>G (p.Leu206Val) n.826T>G c.508T>G (p.Leu170Val) n.570T>G | |
19 | g.17283315dup | CA645613363 | ANKLE1 | c.551dup (p.Leu184PhefsTer4) n.768dup c.518dup (p.Leu173PhefsTer4) c.713dup (p.Leu238PhefsTer4) c.*450dup (n.*450dup) n.664dup c.553dup c.680dup (p.Leu227PhefsTer4) c.617dup (p.Leu206PhefsTer4) n.827dup c.509dup (p.Leu170PhefsTer4) n.571dup | COSMIC COSMIC |
19 | g.17283314_17283315insG | CA2583322992 | ANKLE1 | c.550_551insG (p.Leu184CysfsTer4) n.767_768insG c.517_518insG (p.Leu173CysfsTer4) c.712_713insG (p.Leu238CysfsTer4) c.*449_*450insG (n.*449_*450insG) n.663_664insG c.552_553insG c.679_680insG (p.Leu227CysfsTer4) c.616_617insG (p.Leu206CysfsTer4) n.826_827insG c.508_509insG (p.Leu170CysfsTer4) n.570_571insG | gnomAD v4 |
19 | g.17283315T>A | CA404744749 | ANKLE1 | c.551T>A (p.Leu184Ter) n.768T>A c.518T>A (p.Leu173Ter) c.713T>A (p.Leu238Ter) c.*450T>A (n.*450T>A) n.664T>A c.553T>A c.680T>A (p.Leu227Ter) c.617T>A (p.Leu206Ter) n.827T>A c.509T>A (p.Leu170Ter) n.571T>A | |
19 | g.17283315T>C | CA404744750 | ANKLE1 | c.551T>C (p.Leu184Ser) n.768T>C c.518T>C (p.Leu173Ser) c.713T>C (p.Leu238Ser) c.*450T>C (n.*450T>C) n.664T>C c.553T>C c.680T>C (p.Leu227Ser) c.617T>C (p.Leu206Ser) n.827T>C c.509T>C (p.Leu170Ser) n.571T>C | |
19 | g.17283315T>G | CA9291130 | ANKLE1 | c.551T>G (p.Leu184Trp) n.768T>G c.518T>G (p.Leu173Trp) c.713T>G (p.Leu238Trp) c.*450T>G (n.*450T>G) n.664T>G c.553T>G c.680T>G (p.Leu227Trp) c.617T>G (p.Leu206Trp) n.827T>G c.509T>G (p.Leu170Trp) n.571T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.17283315T= | CA2325780465 | ANKLE1 | c.551T= (p.Leu184=) n.768T= c.518T= (p.Leu173=) c.713T= (p.Leu238=) c.*450T= (n.*450T=) n.664T= c.553T= c.680T= (p.Leu227=) c.617T= (p.Leu206=) n.827T= c.509T= (p.Leu170=) n.571T= | |
19 | g.17283316G>A | CA506095578 | ANKLE1 | c.552G>A (p.Leu184=) n.769G>A c.519G>A (p.Leu173=) c.714G>A (p.Leu238=) c.*451G>A (n.*451G>A) n.665G>A c.554G>A c.681G>A (p.Leu227=) c.618G>A (p.Leu206=) n.828G>A c.510G>A (p.Leu170=) n.572G>A | |
19 | g.17283316G>C | CA404744751 | ANKLE1 | c.552G>C (p.Leu184Phe) n.769G>C c.519G>C (p.Leu173Phe) c.714G>C (p.Leu238Phe) c.*451G>C (n.*451G>C) n.665G>C c.554G>C c.681G>C (p.Leu227Phe) c.618G>C (p.Leu206Phe) n.828G>C c.510G>C (p.Leu170Phe) n.572G>C | |
19 | g.17283316G= | CA2325780466 | ANKLE1 | c.552G= (p.Leu184=) n.769G= c.519G= (p.Leu173=) c.714G= (p.Leu238=) c.*451G= (n.*451G=) n.665G= c.554G= c.681G= (p.Leu227=) c.618G= (p.Leu206=) n.828G= c.510G= (p.Leu170=) n.572G= | |
19 | g.17283316G>T | CA9291131 | ANKLE1 | c.552G>T (p.Leu184Phe) n.769G>T c.519G>T (p.Leu173Phe) c.714G>T (p.Leu238Phe) c.*451G>T (n.*451G>T) n.665G>T c.554G>T c.681G>T (p.Leu227Phe) c.618G>T (p.Leu206Phe) n.828G>T c.510G>T (p.Leu170Phe) n.572G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283317G>A | CA404744752 | ANKLE1 | c.553G>A (p.Glu185Lys) n.770G>A c.520G>A (p.Glu174Lys) c.715G>A (p.Glu239Lys) c.*452G>A (n.*452G>A) n.666G>A c.555G>A c.682G>A (p.Glu228Lys) c.619G>A (p.Glu207Lys) n.829G>A c.511G>A (p.Glu171Lys) n.573G>A | dbSNP |
19 | g.17283317G>C | CA404744753 | ANKLE1 | c.553G>C (p.Glu185Gln) n.770G>C c.520G>C (p.Glu174Gln) c.715G>C (p.Glu239Gln) c.*452G>C (n.*452G>C) n.666G>C c.555G>C c.682G>C (p.Glu228Gln) c.619G>C (p.Glu207Gln) n.829G>C c.511G>C (p.Glu171Gln) n.573G>C | |
19 | g.17283317G= | CA2325780467 | ANKLE1 | c.553G= (p.Glu185=) n.770G= c.520G= (p.Glu174=) c.715G= (p.Glu239=) c.*452G= (n.*452G=) n.666G= c.555G= c.682G= (p.Glu228=) c.619G= (p.Glu207=) n.829G= c.511G= (p.Glu171=) n.573G= | |
19 | g.17283317G>T | CA404744754 | ANKLE1 | c.553G>T (p.Glu185Ter) n.770G>T c.520G>T (p.Glu174Ter) c.715G>T (p.Glu239Ter) c.*452G>T (n.*452G>T) n.666G>T c.555G>T c.682G>T (p.Glu228Ter) c.619G>T (p.Glu207Ter) n.829G>T c.511G>T (p.Glu171Ter) n.573G>T | |
19 | g.17283318A= | CA2325780468 | ANKLE1 | c.554A= (p.Glu185=) n.771A= c.521A= (p.Glu174=) c.716A= (p.Glu239=) c.*453A= (n.*453A=) n.667A= c.556A= c.683A= (p.Glu228=) c.620A= (p.Glu207=) n.830A= c.512A= (p.Glu171=) n.574A= | |
19 | g.17283318A>C | CA404744756 | ANKLE1 | c.554A>C (p.Glu185Ala) n.771A>C c.521A>C (p.Glu174Ala) c.716A>C (p.Glu239Ala) c.*453A>C (n.*453A>C) n.667A>C c.556A>C c.683A>C (p.Glu228Ala) c.620A>C (p.Glu207Ala) n.830A>C c.512A>C (p.Glu171Ala) n.574A>C | |
19 | g.17283318A>G | CA9291132 | ANKLE1 | c.554A>G (p.Glu185Gly) n.771A>G c.521A>G (p.Glu174Gly) c.716A>G (p.Glu239Gly) c.*453A>G (n.*453A>G) n.667A>G c.556A>G c.683A>G (p.Glu228Gly) c.620A>G (p.Glu207Gly) n.830A>G c.512A>G (p.Glu171Gly) n.574A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.17283318A>T | CA404744755 | ANKLE1 | c.554A>T (p.Glu185Val) n.771A>T c.521A>T (p.Glu174Val) c.716A>T (p.Glu239Val) c.*453A>T (n.*453A>T) n.667A>T c.556A>T c.683A>T (p.Glu228Val) c.620A>T (p.Glu207Val) n.830A>T c.512A>T (p.Glu171Val) n.574A>T | gnomAD v4 |
19 | g.17283319G>A | CA506095582 | ANKLE1 | c.555G>A (p.Glu185=) n.772G>A c.522G>A (p.Glu174=) c.717G>A (p.Glu239=) c.*454G>A (n.*454G>A) n.668G>A c.557G>A c.684G>A (p.Glu228=) c.621G>A (p.Glu207=) n.831G>A c.513G>A (p.Glu171=) n.575G>A | |
19 | g.17283319G>C | CA404744757 | ANKLE1 | c.555G>C (p.Glu185Asp) n.772G>C c.522G>C (p.Glu174Asp) c.717G>C (p.Glu239Asp) c.*454G>C (n.*454G>C) n.668G>C c.557G>C c.684G>C (p.Glu228Asp) c.621G>C (p.Glu207Asp) n.831G>C c.513G>C (p.Glu171Asp) n.575G>C | |
19 | g.17283319G>T | CA404744758 | ANKLE1 | c.555G>T (p.Glu185Asp) n.772G>T c.522G>T (p.Glu174Asp) c.717G>T (p.Glu239Asp) c.*454G>T (n.*454G>T) n.668G>T c.557G>T c.684G>T (p.Glu228Asp) c.621G>T (p.Glu207Asp) n.831G>T c.513G>T (p.Glu171Asp) n.575G>T | |
19 | g.17283320G>A | CA306086205 | ANKLE1 | c.556G>A (p.Ala186Thr) n.773G>A c.523G>A (p.Ala175Thr) c.718G>A (p.Ala240Thr) c.*455G>A (n.*455G>A) n.669G>A c.558G>A c.685G>A (p.Ala229Thr) c.622G>A (p.Ala208Thr) n.832G>A c.514G>A (p.Ala172Thr) n.576G>A | dbSNP |
19 | g.17283320G>C | CA404744759 | ANKLE1 | c.556G>C (p.Ala186Pro) n.773G>C c.523G>C (p.Ala175Pro) c.718G>C (p.Ala240Pro) c.*455G>C (n.*455G>C) n.669G>C c.558G>C c.685G>C (p.Ala229Pro) c.622G>C (p.Ala208Pro) n.832G>C c.514G>C (p.Ala172Pro) n.576G>C | |
19 | g.17283320G= | CA2325780469 | ANKLE1 | c.556G= (p.Ala186=) n.773G= c.523G= (p.Ala175=) c.718G= (p.Ala240=) c.*455G= (n.*455G=) n.669G= c.558G= c.685G= (p.Ala229=) c.622G= (p.Ala208=) n.832G= c.514G= (p.Ala172=) n.576G= | |
19 | g.17283320G>T | CA404744760 | ANKLE1 | c.556G>T (p.Ala186Ser) n.773G>T c.523G>T (p.Ala175Ser) c.718G>T (p.Ala240Ser) c.*455G>T (n.*455G>T) n.669G>T c.558G>T c.685G>T (p.Ala229Ser) c.622G>T (p.Ala208Ser) n.832G>T c.514G>T (p.Ala172Ser) n.576G>T |