Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.63061245_63061246del | CA582403838 | TTPA | c.*7_*8del (n.*7_*8del) n.233-12642_233-12641del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.63061246A= | CA1788933341 | TTPA | c.*6T= (n.*6T=) n.233-12643T= | |
8 | g.63061246A>G | CA2687441321 | TTPA | c.*6T>C (n.*6T>C) n.233-12643T>C | gnomAD v4 |
8 | g.63061246A>T | CA1788933342 | TTPA | c.*6T>A (n.*6T>A) n.233-12643T>A | dbSNP gnomAD v4 |
8 | g.63061248C= | CA1788933343 | TTPA | c.*4G= (n.*4G=) n.233-12645G= | |
8 | g.63061248C>G | CA854117956 | TTPA | c.*4G>C (n.*4G>C) n.233-12645G>C | dbSNP |
8 | g.63061248C>T | CA2687441322 | TTPA | c.*4G>A (n.*4G>A) n.233-12645G>A | gnomAD v4 |
8 | g.63061249T>G | CA582403841 | TTPA | c.*3A>C (n.*3A>C) n.233-12646A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.63061249T= | CA1788933344 | TTPA | c.*3A= (n.*3A=) n.233-12646A= | |
8 | g.63061250T>G | CA2687441323 | TTPA | c.*2A>C (n.*2A>C) n.233-12647A>C | gnomAD v4 |
8 | g.63061251C>A | CA1114598266 | TTPA | c.*1G>T (n.*1G>T) n.233-12648G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.63061251C= | CA1788933345 | TTPA | c.*1G= (n.*1G=) n.233-12648G= | |
8 | g.63061251C>T | CA651949893 | TTPA | c.*1G>A (n.*1G>A) n.233-12648G>A | COSMIC |
8 | g.63061252T>A | CA371331598 | TTPA | c.837A>T (p.Ter279Cys) n.233-12649A>T c.489A>T (p.Ter163Cys) | |
8 | g.63061252T>C | CA371331599 | TTPA | c.837A>G (p.Ter279Trp) n.233-12649A>G c.489A>G (p.Ter163Trp) | ClinVar |
8 | g.63061252T>G | CA371331597 | TTPA | c.837A>C (p.Ter279Cys) n.233-12649A>C c.489A>C (p.Ter163Cys) | |
8 | g.63061253C>A | CA371331601 | TTPA | c.836G>T (p.Ter279Leu) n.233-12650G>T c.488G>T (p.Ter163Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.63061253C= | CA1788933346 | TTPA | c.836G= (p.Ter279=) n.233-12650G= c.488G= (p.Ter163=) | |
8 | g.63061253C>G | CA371331600 | TTPA | c.836G>C (p.Ter279Ser) n.233-12650G>C c.488G>C (p.Ter163Ser) | |
8 | g.63061253C>T | CA461143998 | TTPA | c.836G>A (p.Ter279=) n.233-12650G>A c.488G>A (p.Ter163=) | |
8 | g.63061254A>C | CA371331603 | TTPA | c.835T>G (p.Ter279Gly) n.233-12651T>G c.487T>G (p.Ter163Gly) | gnomAD v4 |
8 | g.63061254A>G | CA371331602 | TTPA | c.835T>C (p.Ter279Arg) n.233-12651T>C c.487T>C (p.Ter163Arg) | gnomAD v4 |
8 | g.63061254A>T | CA371331604 | TTPA | c.835T>A (p.Ter279Arg) n.233-12651T>A c.487T>A (p.Ter163Arg) | |
8 | g.63061255T>A | CA371331605 | TTPA | c.834A>T (p.Gln278His) n.233-12652A>T c.486A>T (p.Gln162His) | |
8 | g.63061255T>C | CA4763136 | TTPA | c.834A>G (p.Gln278=) n.233-12652A>G c.486A>G (p.Gln162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.63061255T>G | CA371331606 | TTPA | c.834A>C (p.Gln278His) n.233-12652A>C c.486A>C (p.Gln162His) | |
8 | g.63061255T= | CA1788933347 | TTPA | c.834A= (p.Gln278=) n.233-12652A= c.486A= (p.Gln162=) | |
8 | g.63061256T>A | CA371331607 | TTPA | c.833A>T (p.Gln278Leu) n.233-12653A>T c.485A>T (p.Gln162Leu) | |
8 | g.63061256T>C | CA371331608 | TTPA | c.833A>G (p.Gln278Arg) n.233-12653A>G c.485A>G (p.Gln162Arg) | |
8 | g.63061256T>G | CA371331609 | TTPA | c.833A>C (p.Gln278Pro) n.233-12653A>C c.485A>C (p.Gln162Pro) | |
8 | g.63061257G>A | CA371331610 | TTPA | c.832C>T (p.Gln278Ter) n.233-12654C>T c.484C>T (p.Gln162Ter) | dbSNP gnomAD v4 |
8 | g.63061257G>C | CA371331611 | TTPA | c.832C>G (p.Gln278Glu) n.233-12654C>G c.484C>G (p.Gln162Glu) | |
8 | g.63061257G= | CA1788933348 | TTPA | c.832C= (p.Gln278=) n.233-12654C= c.484C= (p.Gln162=) | |
8 | g.63061257G>T | CA371331612 | TTPA | c.832C>A (p.Gln278Lys) n.233-12654C>A c.484C>A (p.Gln162Lys) | |
8 | g.63061258A>C | CA371331613 | TTPA | c.831T>G (p.Ile277Met) n.233-12655T>G c.483T>G (p.Ile161Met) | |
8 | g.63061258A>G | CA461144004 | TTPA | c.831T>C (p.Ile277=) n.233-12655T>C c.483T>C (p.Ile161=) | |
8 | g.63061258A>T | CA461144005 | TTPA | c.831T>A (p.Ile277=) n.233-12655T>A c.483T>A (p.Ile161=) | |
8 | g.63061259A>C | CA371331614 | TTPA | c.830T>G (p.Ile277Ser) n.233-12656T>G c.482T>G (p.Ile161Ser) | |
8 | g.63061259A>G | CA371331615 | TTPA | c.830T>C (p.Ile277Thr) n.233-12656T>C c.482T>C (p.Ile161Thr) | |
8 | g.63061259A>T | CA371331616 | TTPA | c.830T>A (p.Ile277Asn) n.233-12656T>A c.482T>A (p.Ile161Asn) | |
8 | g.63061260T>A | CA371331617 | TTPA | c.829A>T (p.Ile277Phe) n.233-12657A>T c.481A>T (p.Ile161Phe) | |
8 | g.63061260T>C | CA371331619 | TTPA | c.829A>G (p.Ile277Val) n.233-12657A>G c.481A>G (p.Ile161Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.63061260T>G | CA371331618 | TTPA | c.829A>C (p.Ile277Leu) n.233-12657A>C c.481A>C (p.Ile161Leu) | dbSNP gnomAD v4 |
8 | g.63061260T= | CA1788933349 | TTPA | c.829A= (p.Ile277=) n.233-12657A= c.481A= (p.Ile161=) | |
8 | g.63061261G>A | CA461144008 | TTPA | c.828C>T (p.Ser276=) n.233-12658C>T c.480C>T (p.Ser160=) | ClinVar |
8 | g.63061261G>C | CA371331620 | TTPA | c.828C>G (p.Ser276Arg) n.233-12658C>G c.480C>G (p.Ser160Arg) | |
8 | g.63061261G>T | CA371331621 | TTPA | c.828C>A (p.Ser276Arg) n.233-12658C>A c.480C>A (p.Ser160Arg) | |
8 | g.63061262C>A | CA371331622 | TTPA | c.827G>T (p.Ser276Ile) n.233-12659G>T c.479G>T (p.Ser160Ile) | |
8 | g.63061262C>G | CA371331623 | TTPA | c.827G>C (p.Ser276Thr) n.233-12659G>C c.479G>C (p.Ser160Thr) | |
8 | g.63061262C>T | CA371331624 | TTPA | c.827G>A (p.Ser276Asn) n.233-12659G>A c.479G>A (p.Ser160Asn) | dbSNP gnomAD v3 gnomAD v4 |