| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598647C>A | CA402158265 | TTR | c.416C>A (p.Thr139Lys) c.320C>A (p.Thr107Lys) c.530C>A (p.Thr177Lys) c.392C>A (p.Thr131Lys) | |
| 18 | g.31598647C= | CA2293889370 | TTR | c.416C= (p.Thr139=) c.320C= (p.Thr107=) c.530C= (p.Thr177=) c.392C= (p.Thr131=) | |
| 18 | g.31598647C>G | CA402158266 | TTR | c.416C>G (p.Thr139Arg) c.320C>G (p.Thr107Arg) c.530C>G (p.Thr177Arg) c.392C>G (p.Thr131Arg) | |
| 18 | g.31598647C>T | CA123101 | TTR | c.416C>T (p.Thr139Met) c.320C>T (p.Thr107Met) c.530C>T (p.Thr177Met) c.392C>T (p.Thr131Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598648G>A | CA132602 | TTR | c.417G>A (p.Thr139=) c.321G>A (p.Thr107=) c.531G>A (p.Thr177=) c.393G>A (p.Thr131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31598648G>C | CA503610949 | TTR | c.417G>C (p.Thr139=) c.321G>C (p.Thr107=) c.531G>C (p.Thr177=) c.393G>C (p.Thr131=) | |
| 18 | g.31598648G= | CA2293889371 | TTR | c.417G= (p.Thr139=) c.321G= (p.Thr107=) c.531G= (p.Thr177=) c.393G= (p.Thr131=) | |
| 18 | g.31598648G>T | CA503610947 | TTR | c.417G>T (p.Thr139=) c.321G>T (p.Thr107=) c.531G>T (p.Thr177=) c.393G>T (p.Thr131=) | gnomAD v4 |
| 18 | g.31598648_31598652delinsCAA | CA2499307109 | TTR | c.417_421delinsCAA (p.Ala140AsnfsTer?) c.321_325delinsCAA (p.Ala108AsnfsTer?) c.531_535delinsCAA (p.Ala178AsnfsTer?) c.393_397delinsCAA (p.Ala132AsnfsTer?) | |
| 18 | g.31598649G>A | CA402158267 | TTR | c.418G>A (p.Ala140Thr) c.322G>A (p.Ala108Thr) c.532G>A (p.Ala178Thr) c.394G>A (p.Ala132Thr) | |
| 18 | g.31598649G>C | CA402158268 | TTR | c.418G>C (p.Ala140Pro) c.322G>C (p.Ala108Pro) c.532G>C (p.Ala178Pro) c.394G>C (p.Ala132Pro) | |
| 18 | g.31598649G= | CA2293889372 | TTR | c.418G= (p.Ala140=) c.322G= (p.Ala108=) c.532G= (p.Ala178=) c.394G= (p.Ala132=) | |
| 18 | g.31598649G>T | CA10577055 | TTR | c.418G>T (p.Ala140Ser) c.322G>T (p.Ala108Ser) c.532G>T (p.Ala178Ser) c.394G>T (p.Ala132Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31598650C>A | CA402158269 | TTR | c.419C>A (p.Ala140Asp) c.323C>A (p.Ala108Asp) c.533C>A (p.Ala178Asp) c.395C>A (p.Ala132Asp) | |
| 18 | g.31598650C>G | CA402158270 | TTR | c.419C>G (p.Ala140Gly) c.323C>G (p.Ala108Gly) c.533C>G (p.Ala178Gly) c.395C>G (p.Ala132Gly) | |
| 18 | g.31598650C>T | CA402158271 | TTR | c.419C>T (p.Ala140Val) c.323C>T (p.Ala108Val) c.533C>T (p.Ala178Val) c.395C>T (p.Ala132Val) | COSMIC |
| 18 | g.31598651T>A | CA503610953 | TTR | c.420T>A (p.Ala140=) c.324T>A (p.Ala108=) c.534T>A (p.Ala178=) c.396T>A (p.Ala132=) | |
| 18 | g.31598651T>C | CA503610954 | TTR | c.420T>C (p.Ala140=) c.324T>C (p.Ala108=) c.534T>C (p.Ala178=) c.396T>C (p.Ala132=) | ClinVar |
| 18 | g.31598651T>G | CA503610955 | TTR | c.420T>G (p.Ala140=) c.324T>G (p.Ala108=) c.534T>G (p.Ala178=) c.396T>G (p.Ala132=) | |
| 18 | g.31598651_31598654delinsTGTC | CA2293889373 | TTR | c.420_423delinsTGTC (p.Ala140=) c.324_327delinsTGTC (p.Ala108=) c.534_537delinsTGTC (p.Ala178=) c.396_399delinsTGTC (p.Ala132=) | |
| 18 | g.31598652G>A | CA402158274 | TTR | c.421G>A (p.Val141Ile) c.325G>A (p.Val109Ile) c.535G>A (p.Val179Ile) c.397G>A (p.Val133Ile) | gnomAD v4 |
| 18 | g.31598652G>C | CA402158273 | TTR | c.421G>C (p.Val141Leu) c.325G>C (p.Val109Leu) c.535G>C (p.Val179Leu) c.397G>C (p.Val133Leu) | |
| 18 | g.31598652G>T | CA402158272 | TTR | c.421G>T (p.Val141Phe) c.325G>T (p.Val109Phe) c.535G>T (p.Val179Phe) c.397G>T (p.Val133Phe) | |
| 18 | g.31598655_31598657del | CA256856 | TTR | c.424_426del (p.Val142del) c.328_330del (p.Val110del) c.538_540del (p.Val180del) c.400_402del (p.Val134del) | ClinVar dbSNP |
| 18 | g.31598653T>A | CA402158275 | TTR | c.422T>A (p.Val141Asp) c.326T>A (p.Val109Asp) c.536T>A (p.Val179Asp) c.398T>A (p.Val133Asp) | |
| 18 | g.31598653T>C | CA402158277 | TTR | c.422T>C (p.Val141Ala) c.326T>C (p.Val109Ala) c.536T>C (p.Val179Ala) c.398T>C (p.Val133Ala) | gnomAD v4 |
| 18 | g.31598653T>G | CA402158276 | TTR | c.422T>G (p.Val141Gly) c.326T>G (p.Val109Gly) c.536T>G (p.Val179Gly) c.398T>G (p.Val133Gly) | |
| 18 | g.31598654C>A | CA503610961 | TTR | c.423C>A (p.Val141=) c.327C>A (p.Val109=) c.537C>A (p.Val179=) c.399C>A (p.Val133=) | |
| 18 | g.31598654C= | CA2293889374 | TTR | c.423C= (p.Val141=) c.327C= (p.Val109=) c.537C= (p.Val179=) c.399C= (p.Val133=) | |
| 18 | g.31598654C>G | CA503610963 | TTR | c.423C>G (p.Val141=) c.327C>G (p.Val109=) c.537C>G (p.Val179=) c.399C>G (p.Val133=) | |
| 18 | g.31598654C>T | CA8928513 | TTR | c.423C>T (p.Val141=) c.327C>T (p.Val109=) c.537C>T (p.Val179=) c.399C>T (p.Val133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31598655G>A | CA214382 | TTR | c.424G>A (p.Val142Ile) c.328G>A (p.Val110Ile) c.538G>A (p.Val180Ile) c.400G>A (p.Val134Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598655G>C | CA402158279 | TTR | c.424G>C (p.Val142Leu) c.328G>C (p.Val110Leu) c.538G>C (p.Val180Leu) c.400G>C (p.Val134Leu) | |
| 18 | g.31598655G= | CA2293889375 | TTR | c.424G= (p.Val142=) c.328G= (p.Val110=) c.538G= (p.Val180=) c.400G= (p.Val134=) | |
| 18 | g.31598655G>T | CA402158278 | TTR | c.424G>T (p.Val142Phe) c.328G>T (p.Val110Phe) c.538G>T (p.Val180Phe) c.400G>T (p.Val134Phe) | |
| 18 | g.31598656T>A | CA402158280 | TTR | c.425T>A (p.Val142Asp) c.329T>A (p.Val110Asp) c.539T>A (p.Val180Asp) c.401T>A (p.Val134Asp) | |
| 18 | g.31598656T>C | CA402158281 | TTR | c.425T>C (p.Val142Ala) c.329T>C (p.Val110Ala) c.539T>C (p.Val180Ala) c.401T>C (p.Val134Ala) | ClinVar dbSNP |
| 18 | g.31598656T>G | CA402158282 | TTR | c.425T>G (p.Val142Gly) c.329T>G (p.Val110Gly) c.539T>G (p.Val180Gly) c.401T>G (p.Val134Gly) | |
| 18 | g.31598657C>A | CA503610965 | TTR | c.426C>A (p.Val142=) c.330C>A (p.Val110=) c.540C>A (p.Val180=) c.402C>A (p.Val134=) | |
| 18 | g.31598657C= | CA2293889376 | TTR | c.426C= (p.Val142=) c.330C= (p.Val110=) c.540C= (p.Val180=) c.402C= (p.Val134=) | |
| 18 | g.31598657C>G | CA503610966 | TTR | c.426C>G (p.Val142=) c.330C>G (p.Val110=) c.540C>G (p.Val180=) c.402C>G (p.Val134=) | |
| 18 | g.31598657C>T | CA297742017 | TTR | c.426C>T (p.Val142=) c.330C>T (p.Val110=) c.540C>T (p.Val180=) c.402C>T (p.Val134=) | dbSNP |
| 18 | g.31598658A>C | CA402158283 | TTR | c.427A>C (p.Thr143Pro) c.331A>C (p.Thr111Pro) c.541A>C (p.Thr181Pro) c.403A>C (p.Thr135Pro) | |
| 18 | g.31598658A>G | CA402158284 | TTR | c.427A>G (p.Thr143Ala) c.331A>G (p.Thr111Ala) c.541A>G (p.Thr181Ala) c.403A>G (p.Thr135Ala) | ClinVar gnomAD v4 |
| 18 | g.31598658A>T | CA402158285 | TTR | c.427A>T (p.Thr143Ser) c.331A>T (p.Thr111Ser) c.541A>T (p.Thr181Ser) c.403A>T (p.Thr135Ser) | gnomAD v4 |
| 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.31598659C>A | CA402158286 | TTR | c.428C>A (p.Thr143Asn) c.332C>A (p.Thr111Asn) c.542C>A (p.Thr181Asn) c.404C>A (p.Thr135Asn) | |
| 18 | g.31598659C>G | CA402158287 | TTR | c.428C>G (p.Thr143Ser) c.332C>G (p.Thr111Ser) c.542C>G (p.Thr181Ser) c.404C>G (p.Thr135Ser) | |
| 18 | g.31598659C>T | CA402158288 | TTR | c.428C>T (p.Thr143Ile) c.332C>T (p.Thr111Ile) c.542C>T (p.Thr181Ile) c.404C>T (p.Thr135Ile) | |
| 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 |