Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31598658_31598664delinsACCAATC | CA2293889377 | TTR | c.427_433delinsACCAATC (p.Thr143=) c.331_337delinsACCAATC (p.Thr111=) c.541_547delinsACCAATC (p.Thr181=) c.403_409delinsACCAATC (p.Thr135=) | |
18 | g.31598663_31598668del | CA10641397 | TTR | c.432_437del (p.Asn144_Pro145del) c.336_341del (p.Asn112_Pro113del) c.546_551del (p.Asn182_Pro183del) c.408_413del (p.Asn136_Pro137del) | ClinVar dbSNP |
18 | g.31598663T>A | CA402158294 | TTR | c.432T>A (p.Asn144Lys) c.336T>A (p.Asn112Lys) c.546T>A (p.Asn182Lys) c.408T>A (p.Asn136Lys) | |
18 | g.31598663T>C | CA503610972 | TTR | c.432T>C (p.Asn144=) c.336T>C (p.Asn112=) c.546T>C (p.Asn182=) c.408T>C (p.Asn136=) | |
18 | g.31598663T>G | CA402158295 | TTR | c.432T>G (p.Asn144Lys) c.336T>G (p.Asn112Lys) c.546T>G (p.Asn182Lys) c.408T>G (p.Asn136Lys) | |
18 | g.31598664C>A | CA402158296 | TTR | c.433C>A (p.Pro145Thr) c.337C>A (p.Pro113Thr) c.547C>A (p.Pro183Thr) c.409C>A (p.Pro137Thr) | dbSNP |
18 | g.31598664C= | CA2293889379 | TTR | c.433C= (p.Pro145=) c.337C= (p.Pro113=) c.547C= (p.Pro183=) c.409C= (p.Pro137=) | |
18 | g.31598664C>G | CA402158297 | TTR | c.433C>G (p.Pro145Ala) c.337C>G (p.Pro113Ala) c.547C>G (p.Pro183Ala) c.409C>G (p.Pro137Ala) | |
18 | g.31598664C>T | CA402158298 | TTR | c.433C>T (p.Pro145Ser) c.337C>T (p.Pro113Ser) c.547C>T (p.Pro183Ser) c.409C>T (p.Pro137Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598665C>A | CA297742019 | TTR | c.434C>A (p.Pro145His) c.338C>A (p.Pro113His) c.548C>A (p.Pro183His) c.410C>A (p.Pro137His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31598665C= | CA2293889380 | TTR | c.434C= (p.Pro145=) c.338C= (p.Pro113=) c.548C= (p.Pro183=) c.410C= (p.Pro137=) | |
18 | g.31598665C>G | CA402158299 | TTR | c.434C>G (p.Pro145Arg) c.338C>G (p.Pro113Arg) c.548C>G (p.Pro183Arg) c.410C>G (p.Pro137Arg) | |
18 | g.31598665C>T | CA402158300 | TTR | c.434C>T (p.Pro145Leu) c.338C>T (p.Pro113Leu) c.548C>T (p.Pro183Leu) c.410C>T (p.Pro137Leu) | |
18 | g.31598666C>A | CA503610974 | TTR | c.435C>A (p.Pro145=) c.339C>A (p.Pro113=) c.549C>A (p.Pro183=) c.411C>A (p.Pro137=) | |
18 | g.31598666C= | CA2293889381 | TTR | c.435C= (p.Pro145=) c.339C= (p.Pro113=) c.549C= (p.Pro183=) c.411C= (p.Pro137=) | |
18 | g.31598666C>G | CA503610975 | TTR | c.435C>G (p.Pro145=) c.339C>G (p.Pro113=) c.549C>G (p.Pro183=) c.411C>G (p.Pro137=) | |
18 | g.31598666C>T | CA503610976 | TTR | c.435C>T (p.Pro145=) c.339C>T (p.Pro113=) c.549C>T (p.Pro183=) c.411C>T (p.Pro137=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31598667A>C | CA402158302 | TTR | c.436A>C (p.Lys146Gln) c.340A>C (p.Lys114Gln) c.550A>C (p.Lys184Gln) c.412A>C (p.Lys138Gln) | |
18 | g.31598667A>G | CA402158303 | TTR | c.436A>G (p.Lys146Glu) c.340A>G (p.Lys114Glu) c.550A>G (p.Lys184Glu) c.412A>G (p.Lys138Glu) | |
18 | g.31598667A>T | CA402158301 | TTR | c.436A>T (p.Lys146Ter) c.340A>T (p.Lys114Ter) c.550A>T (p.Lys184Ter) c.412A>T (p.Lys138Ter) | |
18 | g.31598668A= | CA2293889382 | TTR | c.437A= (p.Lys146=) c.341A= (p.Lys114=) c.551A= (p.Lys184=) c.413A= (p.Lys138=) | |
18 | g.31598668A>C | CA402158304 | TTR | c.437A>C (p.Lys146Thr) c.341A>C (p.Lys114Thr) c.551A>C (p.Lys184Thr) c.413A>C (p.Lys138Thr) | |
18 | g.31598668A>G | CA297551 | TTR | c.437A>G (p.Lys146Arg) c.341A>G (p.Lys114Arg) c.551A>G (p.Lys184Arg) c.413A>G (p.Lys138Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598668A>T | CA402158305 | TTR | c.437A>T (p.Lys146Met) c.341A>T (p.Lys114Met) c.551A>T (p.Lys184Met) c.413A>T (p.Lys138Met) | |
18 | g.31598669G>A | CA503610977 | TTR | c.438G>A (p.Lys146=) c.342G>A (p.Lys114=) c.552G>A (p.Lys184=) c.414G>A (p.Lys138=) | ClinVar gnomAD v4 |
18 | g.31598669G>C | CA402158306 | TTR | c.438G>C (p.Lys146Asn) c.342G>C (p.Lys114Asn) c.552G>C (p.Lys184Asn) c.414G>C (p.Lys138Asn) | |
18 | g.31598669G>T | CA402158307 | TTR | c.438G>T (p.Lys146Asn) c.342G>T (p.Lys114Asn) c.552G>T (p.Lys184Asn) c.414G>T (p.Lys138Asn) | |
18 | g.31598670G>A | CA402158308 | TTR | c.439G>A (p.Glu147Lys) c.343G>A (p.Glu115Lys) c.553G>A (p.Glu185Lys) c.415G>A (p.Glu139Lys) | |
18 | g.31598670G>C | CA402158309 | TTR | c.439G>C (p.Glu147Gln) c.343G>C (p.Glu115Gln) c.553G>C (p.Glu185Gln) c.415G>C (p.Glu139Gln) | |
18 | g.31598670G= | CA2293889383 | TTR | c.439G= (p.Glu147=) c.343G= (p.Glu115=) c.553G= (p.Glu185=) c.415G= (p.Glu139=) | |
18 | g.31598670G>T | CA297516 | TTR | c.439G>T (p.Glu147Ter) c.343G>T (p.Glu115Ter) c.553G>T (p.Glu185Ter) c.415G>T (p.Glu139Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598671A= | CA2293889384 | TTR | c.440A= (p.Glu147=) c.344A= (p.Glu115=) c.554A= (p.Glu185=) c.416A= (p.Glu139=) | |
18 | g.31598671A>C | CA402158310 | TTR | c.440A>C (p.Glu147Ala) c.344A>C (p.Glu115Ala) c.554A>C (p.Glu185Ala) c.416A>C (p.Glu139Ala) | |
18 | g.31598671A>G | CA402158311 | TTR | c.440A>G (p.Glu147Gly) c.344A>G (p.Glu115Gly) c.554A>G (p.Glu185Gly) c.416A>G (p.Glu139Gly) | |
18 | g.31598671A>T | CA402158312 | TTR | c.440A>T (p.Glu147Val) c.344A>T (p.Glu115Val) c.554A>T (p.Glu185Val) c.416A>T (p.Glu139Val) | dbSNP |
18 | g.31598672A= | CA2293889385 | TTR | c.441A= (p.Glu147=) c.345A= (p.Glu115=) c.555A= (p.Glu185=) c.417A= (p.Glu139=) | |
18 | g.31598672A>C | CA402158313 | TTR | c.441A>C (p.Glu147Asp) c.345A>C (p.Glu115Asp) c.555A>C (p.Glu185Asp) c.417A>C (p.Glu139Asp) | |
18 | g.31598672A>G | CA8928515 | TTR | c.441A>G (p.Glu147=) c.345A>G (p.Glu115=) c.555A>G (p.Glu185=) c.417A>G (p.Glu139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598672A>T | CA8928516 | TTR | c.441A>T (p.Glu147Asp) c.345A>T (p.Glu115Asp) c.555A>T (p.Glu185Asp) c.417A>T (p.Glu139Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598673T>A | CA402158314 | TTR | c.442T>A (p.Ter148Arg) c.346T>A (p.Ter116Arg) c.556T>A (p.Ter186Arg) c.418T>A (p.Ter140Arg) | |
18 | g.31598673T>C | CA402158315 | TTR | c.442T>C (p.Ter148Arg) c.346T>C (p.Ter116Arg) c.556T>C (p.Ter186Arg) c.418T>C (p.Ter140Arg) | |
18 | g.31598673T>G | CA402158316 | TTR | c.442T>G (p.Ter148Gly) c.346T>G (p.Ter116Gly) c.556T>G (p.Ter186Gly) c.418T>G (p.Ter140Gly) | |
18 | g.31598673_31598674delinsTG | CA2293889386 | TTR | c.442_443delinsTG (p.Ter148=) c.346_347delinsTG (p.Ter116=) c.556_557delinsTG (p.Ter186=) c.418_419delinsTG (p.Ter140=) | |
18 | g.31598674del | CA778418508 | TTR | c.443del (p.Ter148=) c.347del (p.Ter116=) c.557del (p.Ter186=) c.419del (p.Ter140=) | dbSNP |
18 | g.31598674G>A | CA503610979 | TTR | c.443G>A (p.Ter148=) c.347G>A (p.Ter116=) c.557G>A (p.Ter186=) c.419G>A (p.Ter140=) | |
18 | g.31598674G>C | CA402158317 | TTR | c.443G>C (p.Ter148Ser) c.347G>C (p.Ter116Ser) c.557G>C (p.Ter186Ser) c.419G>C (p.Ter140Ser) | |
18 | g.31598674G= | CA2293889387 | TTR | c.443G= (p.Ter148=) c.347G= (p.Ter116=) c.557G= (p.Ter186=) c.419G= (p.Ter140=) | |
18 | g.31598674G>T | CA402158318 | TTR | c.443G>T (p.Ter148Leu) c.347G>T (p.Ter116Leu) c.557G>T (p.Ter186Leu) c.419G>T (p.Ter140Leu) | |
18 | g.31598675A>C | CA402158321 | TTR | c.444A>C (p.Ter148Cys) c.348A>C (p.Ter116Cys) c.558A>C (p.Ter186Cys) c.420A>C (p.Ter140Cys) | |
18 | g.31598675A>G | CA402158319 | TTR | c.444A>G (p.Ter148Trp) c.348A>G (p.Ter116Trp) c.558A>G (p.Ter186Trp) c.420A>G (p.Ter140Trp) |