| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45991562G>A | CA225403 | MAPT | c.445G>A (p.Ala149Thr) c.358G>A (p.Ala120Thr) n.597G>A c.532G>A (p.Ala178Thr) n.396G>A c.1708G>A (p.Ala570Thr) c.1510G>A (p.Ala504Thr) c.1483G>A (p.Ala495Thr) n.486G>A n.5817G>A c.1795G>A (p.Ala599Thr) c.1621G>A (p.Ala541Thr) c.1597G>A (p.Ala533Thr) c.730G>A (p.Ala244Thr) c.643G>A (p.Ala215Thr) c.556G>A (p.Ala186Thr) n.590+5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.45991562G>C | CA399977744 | MAPT | c.445G>C (p.Ala149Pro) c.358G>C (p.Ala120Pro) n.597G>C c.532G>C (p.Ala178Pro) n.396G>C c.1708G>C (p.Ala570Pro) c.1510G>C (p.Ala504Pro) c.1483G>C (p.Ala495Pro) n.486G>C n.5817G>C c.1795G>C (p.Ala599Pro) c.1621G>C (p.Ala541Pro) c.1597G>C (p.Ala533Pro) c.730G>C (p.Ala244Pro) c.643G>C (p.Ala215Pro) c.556G>C (p.Ala186Pro) n.590+5G>C | dbSNP |
| 17 | g.45991562G= | CA2262092903 | MAPT | c.445G= (p.Ala149=) c.358G= (p.Ala120=) n.597G= c.532G= (p.Ala178=) n.396G= c.1708G= (p.Ala570=) c.1510G= (p.Ala504=) c.1483G= (p.Ala495=) n.486G= n.5817G= c.1795G= (p.Ala599=) c.1621G= (p.Ala541=) c.1597G= (p.Ala533=) c.730G= (p.Ala244=) c.643G= (p.Ala215=) c.556G= (p.Ala186=) n.590+5G= | |
| 17 | g.45991562G>T | CA399977743 | MAPT | c.445G>T (p.Ala149Ser) c.358G>T (p.Ala120Ser) n.597G>T c.532G>T (p.Ala178Ser) n.396G>T c.1708G>T (p.Ala570Ser) c.1510G>T (p.Ala504Ser) c.1483G>T (p.Ala495Ser) n.486G>T n.5817G>T c.1795G>T (p.Ala599Ser) c.1621G>T (p.Ala541Ser) c.1597G>T (p.Ala533Ser) c.730G>T (p.Ala244Ser) c.643G>T (p.Ala215Ser) c.556G>T (p.Ala186Ser) n.590+5G>T | |
| 17 | g.45991563C>A | CA399977745 | MAPT | c.446C>A (p.Ala149Asp) c.359C>A (p.Ala120Asp) n.598C>A c.533C>A (p.Ala178Asp) n.397C>A c.1709C>A (p.Ala570Asp) c.1511C>A (p.Ala504Asp) c.1484C>A (p.Ala495Asp) n.487C>A n.5818C>A c.1796C>A (p.Ala599Asp) c.1622C>A (p.Ala541Asp) c.1598C>A (p.Ala533Asp) c.731C>A (p.Ala244Asp) c.644C>A (p.Ala215Asp) c.557C>A (p.Ala186Asp) n.590+6C>A | |
| 17 | g.45991563C>G | CA399977746 | MAPT | c.446C>G (p.Ala149Gly) c.359C>G (p.Ala120Gly) n.598C>G c.533C>G (p.Ala178Gly) n.397C>G c.1709C>G (p.Ala570Gly) c.1511C>G (p.Ala504Gly) c.1484C>G (p.Ala495Gly) n.487C>G n.5818C>G c.1796C>G (p.Ala599Gly) c.1622C>G (p.Ala541Gly) c.1598C>G (p.Ala533Gly) c.731C>G (p.Ala244Gly) c.644C>G (p.Ala215Gly) c.557C>G (p.Ala186Gly) n.590+6C>G | |
| 17 | g.45991563C>T | CA399977747 | MAPT | c.446C>T (p.Ala149Val) c.359C>T (p.Ala120Val) n.598C>T c.533C>T (p.Ala178Val) n.397C>T c.1709C>T (p.Ala570Val) c.1511C>T (p.Ala504Val) c.1484C>T (p.Ala495Val) n.487C>T n.5818C>T c.1796C>T (p.Ala599Val) c.1622C>T (p.Ala541Val) c.1598C>T (p.Ala533Val) c.731C>T (p.Ala244Val) c.644C>T (p.Ala215Val) c.557C>T (p.Ala186Val) n.590+6C>T | |
| 17 | g.45991564T>A | CA500370520 | MAPT | c.447T>A (p.Ala149=) c.360T>A (p.Ala120=) n.599T>A c.534T>A (p.Ala178=) n.398T>A c.1710T>A (p.Ala570=) c.1512T>A (p.Ala504=) c.1485T>A (p.Ala495=) n.488T>A n.5819T>A c.1797T>A (p.Ala599=) c.1623T>A (p.Ala541=) c.1599T>A (p.Ala533=) c.732T>A (p.Ala244=) c.645T>A (p.Ala215=) c.558T>A (p.Ala186=) n.590+7T>A | |
| 17 | g.45991564T>C | CA500370521 | MAPT | c.447T>C (p.Ala149=) c.360T>C (p.Ala120=) n.599T>C c.534T>C (p.Ala178=) n.398T>C c.1710T>C (p.Ala570=) c.1512T>C (p.Ala504=) c.1485T>C (p.Ala495=) n.488T>C n.5819T>C c.1797T>C (p.Ala599=) c.1623T>C (p.Ala541=) c.1599T>C (p.Ala533=) c.732T>C (p.Ala244=) c.645T>C (p.Ala215=) c.558T>C (p.Ala186=) n.590+7T>C | |
| 17 | g.45991564T>G | CA500370522 | MAPT | c.447T>G (p.Ala149=) c.360T>G (p.Ala120=) n.599T>G c.534T>G (p.Ala178=) n.398T>G c.1710T>G (p.Ala570=) c.1512T>G (p.Ala504=) c.1485T>G (p.Ala495=) n.488T>G n.5819T>G c.1797T>G (p.Ala599=) c.1623T>G (p.Ala541=) c.1599T>G (p.Ala533=) c.732T>G (p.Ala244=) c.645T>G (p.Ala215=) c.558T>G (p.Ala186=) n.590+7T>G | |
| 17 | g.45991565C>A | CA399977748 | MAPT | c.448C>A (p.Pro150Thr) c.361C>A (p.Pro121Thr) n.600C>A c.535C>A (p.Pro179Thr) n.399C>A c.1711C>A (p.Pro571Thr) c.1513C>A (p.Pro505Thr) c.1486C>A (p.Pro496Thr) n.489C>A n.5820C>A c.1798C>A (p.Pro600Thr) c.1624C>A (p.Pro542Thr) c.1600C>A (p.Pro534Thr) c.733C>A (p.Pro245Thr) c.646C>A (p.Pro216Thr) c.559C>A (p.Pro187Thr) n.590+8C>A | |
| 17 | g.45991565C>G | CA399977749 | MAPT | c.448C>G (p.Pro150Ala) c.361C>G (p.Pro121Ala) n.600C>G c.535C>G (p.Pro179Ala) n.399C>G c.1711C>G (p.Pro571Ala) c.1513C>G (p.Pro505Ala) c.1486C>G (p.Pro496Ala) n.489C>G n.5820C>G c.1798C>G (p.Pro600Ala) c.1624C>G (p.Pro542Ala) c.1600C>G (p.Pro534Ala) c.733C>G (p.Pro245Ala) c.646C>G (p.Pro216Ala) c.559C>G (p.Pro187Ala) n.590+8C>G | |
| 17 | g.45991565C>T | CA399977750 | MAPT | c.448C>T (p.Pro150Ser) c.361C>T (p.Pro121Ser) n.600C>T c.535C>T (p.Pro179Ser) n.399C>T c.1711C>T (p.Pro571Ser) c.1513C>T (p.Pro505Ser) c.1486C>T (p.Pro496Ser) n.489C>T n.5820C>T c.1798C>T (p.Pro600Ser) c.1624C>T (p.Pro542Ser) c.1600C>T (p.Pro534Ser) c.733C>T (p.Pro245Ser) c.646C>T (p.Pro216Ser) c.559C>T (p.Pro187Ser) n.590+8C>T | |
| 17 | g.45991566C>A | CA399977751 | MAPT | c.449C>A (p.Pro150Gln) c.362C>A (p.Pro121Gln) n.601C>A c.536C>A (p.Pro179Gln) n.400C>A c.1712C>A (p.Pro571Gln) c.1514C>A (p.Pro505Gln) c.1487C>A (p.Pro496Gln) n.490C>A n.5821C>A c.1799C>A (p.Pro600Gln) c.1625C>A (p.Pro542Gln) c.1601C>A (p.Pro534Gln) c.734C>A (p.Pro245Gln) c.647C>A (p.Pro216Gln) c.560C>A (p.Pro187Gln) n.590+9C>A | |
| 17 | g.45991566C>G | CA399977752 | MAPT | c.449C>G (p.Pro150Arg) c.362C>G (p.Pro121Arg) n.601C>G c.536C>G (p.Pro179Arg) n.400C>G c.1712C>G (p.Pro571Arg) c.1514C>G (p.Pro505Arg) c.1487C>G (p.Pro496Arg) n.490C>G n.5821C>G c.1799C>G (p.Pro600Arg) c.1625C>G (p.Pro542Arg) c.1601C>G (p.Pro534Arg) c.734C>G (p.Pro245Arg) c.647C>G (p.Pro216Arg) c.560C>G (p.Pro187Arg) n.590+9C>G | |
| 17 | g.45991566C>T | CA399977753 | MAPT | c.449C>T (p.Pro150Leu) c.362C>T (p.Pro121Leu) n.601C>T c.536C>T (p.Pro179Leu) n.400C>T c.1712C>T (p.Pro571Leu) c.1514C>T (p.Pro505Leu) c.1487C>T (p.Pro496Leu) n.490C>T n.5821C>T c.1799C>T (p.Pro600Leu) c.1625C>T (p.Pro542Leu) c.1601C>T (p.Pro534Leu) c.734C>T (p.Pro245Leu) c.647C>T (p.Pro216Leu) c.560C>T (p.Pro187Leu) n.590+9C>T | |
| 17 | g.45991567A>C | CA500370524 | MAPT | c.450A>C (p.Pro150=) c.363A>C (p.Pro121=) n.602A>C c.537A>C (p.Pro179=) n.401A>C c.1713A>C (p.Pro571=) c.1515A>C (p.Pro505=) c.1488A>C (p.Pro496=) n.491A>C n.5822A>C c.1800A>C (p.Pro600=) c.1626A>C (p.Pro542=) c.1602A>C (p.Pro534=) c.735A>C (p.Pro245=) c.648A>C (p.Pro216=) c.561A>C (p.Pro187=) n.590+10A>C | |
| 17 | g.45991567A>G | CA500370525 | MAPT | c.450A>G (p.Pro150=) c.363A>G (p.Pro121=) n.602A>G c.537A>G (p.Pro179=) n.401A>G c.1713A>G (p.Pro571=) c.1515A>G (p.Pro505=) c.1488A>G (p.Pro496=) n.491A>G n.5822A>G c.1800A>G (p.Pro600=) c.1626A>G (p.Pro542=) c.1602A>G (p.Pro534=) c.735A>G (p.Pro245=) c.648A>G (p.Pro216=) c.561A>G (p.Pro187=) n.590+10A>G | |
| 17 | g.45991567A>T | CA500370523 | MAPT | c.450A>T (p.Pro150=) c.363A>T (p.Pro121=) n.602A>T c.537A>T (p.Pro179=) n.401A>T c.1713A>T (p.Pro571=) c.1515A>T (p.Pro505=) c.1488A>T (p.Pro496=) n.491A>T n.5822A>T c.1800A>T (p.Pro600=) c.1626A>T (p.Pro542=) c.1602A>T (p.Pro534=) c.735A>T (p.Pro245=) c.648A>T (p.Pro216=) c.561A>T (p.Pro187=) n.590+10A>T | |
| 17 | g.45991568A>C | CA399977754 | MAPT | c.451A>C (p.Lys151Gln) c.364A>C (p.Lys122Gln) n.603A>C c.538A>C (p.Lys180Gln) n.402A>C c.1714A>C (p.Lys572Gln) c.1516A>C (p.Lys506Gln) c.1489A>C (p.Lys497Gln) n.492A>C n.5823A>C c.1801A>C (p.Lys601Gln) c.1627A>C (p.Lys543Gln) c.1603A>C (p.Lys535Gln) c.736A>C (p.Lys246Gln) c.649A>C (p.Lys217Gln) c.562A>C (p.Lys188Gln) n.590+11A>C | |
| 17 | g.45991568A>G | CA399977755 | MAPT | c.451A>G (p.Lys151Glu) c.364A>G (p.Lys122Glu) n.603A>G c.538A>G (p.Lys180Glu) n.402A>G c.1714A>G (p.Lys572Glu) c.1516A>G (p.Lys506Glu) c.1489A>G (p.Lys497Glu) n.492A>G n.5823A>G c.1801A>G (p.Lys601Glu) c.1627A>G (p.Lys543Glu) c.1603A>G (p.Lys535Glu) c.736A>G (p.Lys246Glu) c.649A>G (p.Lys217Glu) c.562A>G (p.Lys188Glu) n.590+11A>G | gnomAD v4 |
| 17 | g.45991568A>T | CA399977756 | MAPT | c.451A>T (p.Lys151Ter) c.364A>T (p.Lys122Ter) n.603A>T c.538A>T (p.Lys180Ter) n.402A>T c.1714A>T (p.Lys572Ter) c.1516A>T (p.Lys506Ter) c.1489A>T (p.Lys497Ter) n.492A>T n.5823A>T c.1801A>T (p.Lys601Ter) c.1627A>T (p.Lys543Ter) c.1603A>T (p.Lys535Ter) c.736A>T (p.Lys246Ter) c.649A>T (p.Lys217Ter) c.562A>T (p.Lys188Ter) n.590+11A>T | |
| 17 | g.45991569A>C | CA399977758 | MAPT | c.452A>C (p.Lys151Thr) c.365A>C (p.Lys122Thr) n.604A>C c.539A>C (p.Lys180Thr) n.403A>C c.1715A>C (p.Lys572Thr) c.1517A>C (p.Lys506Thr) c.1490A>C (p.Lys497Thr) n.493A>C n.5824A>C c.1802A>C (p.Lys601Thr) c.1628A>C (p.Lys543Thr) c.1604A>C (p.Lys535Thr) c.737A>C (p.Lys246Thr) c.650A>C (p.Lys217Thr) c.563A>C (p.Lys188Thr) n.590+12A>C | |
| 17 | g.45991569A>G | CA399977759 | MAPT | c.452A>G (p.Lys151Arg) c.365A>G (p.Lys122Arg) n.604A>G c.539A>G (p.Lys180Arg) n.403A>G c.1715A>G (p.Lys572Arg) c.1517A>G (p.Lys506Arg) c.1490A>G (p.Lys497Arg) n.493A>G n.5824A>G c.1802A>G (p.Lys601Arg) c.1628A>G (p.Lys543Arg) c.1604A>G (p.Lys535Arg) c.737A>G (p.Lys246Arg) c.650A>G (p.Lys217Arg) c.563A>G (p.Lys188Arg) n.590+12A>G | gnomAD v4 |
| 17 | g.45991569A>T | CA399977757 | MAPT | c.452A>T (p.Lys151Met) c.365A>T (p.Lys122Met) n.604A>T c.539A>T (p.Lys180Met) n.403A>T c.1715A>T (p.Lys572Met) c.1517A>T (p.Lys506Met) c.1490A>T (p.Lys497Met) n.493A>T n.5824A>T c.1802A>T (p.Lys601Met) c.1628A>T (p.Lys543Met) c.1604A>T (p.Lys535Met) c.737A>T (p.Lys246Met) c.650A>T (p.Lys217Met) c.563A>T (p.Lys188Met) n.590+12A>T | |
| 17 | g.45991570G>A | CA500370526 | MAPT | c.453G>A (p.Lys151=) c.366G>A (p.Lys122=) n.605G>A c.540G>A (p.Lys180=) n.404G>A c.1716G>A (p.Lys572=) c.1518G>A (p.Lys506=) c.1491G>A (p.Lys497=) n.494G>A n.5825G>A c.1803G>A (p.Lys601=) c.1629G>A (p.Lys543=) c.1605G>A (p.Lys535=) c.738G>A (p.Lys246=) c.651G>A (p.Lys217=) c.564G>A (p.Lys188=) n.590+13G>A | gnomAD v4 |
| 17 | g.45991570G>C | CA399977760 | MAPT | c.453G>C (p.Lys151Asn) c.366G>C (p.Lys122Asn) n.605G>C c.540G>C (p.Lys180Asn) n.404G>C c.1716G>C (p.Lys572Asn) c.1518G>C (p.Lys506Asn) c.1491G>C (p.Lys497Asn) n.494G>C n.5825G>C c.1803G>C (p.Lys601Asn) c.1629G>C (p.Lys543Asn) c.1605G>C (p.Lys535Asn) c.738G>C (p.Lys246Asn) c.651G>C (p.Lys217Asn) c.564G>C (p.Lys188Asn) n.590+13G>C | |
| 17 | g.45991570G>T | CA399977761 | MAPT | c.453G>T (p.Lys151Asn) c.366G>T (p.Lys122Asn) n.605G>T c.540G>T (p.Lys180Asn) n.404G>T c.1716G>T (p.Lys572Asn) c.1518G>T (p.Lys506Asn) c.1491G>T (p.Lys497Asn) n.494G>T n.5825G>T c.1803G>T (p.Lys601Asn) c.1629G>T (p.Lys543Asn) c.1605G>T (p.Lys535Asn) c.738G>T (p.Lys246Asn) c.651G>T (p.Lys217Asn) c.564G>T (p.Lys188Asn) n.590+13G>T | |
| 17 | g.45991601_45991602insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | CA2564108233 | MAPT | c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC n.420+15_420+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.1732+15_1732+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.1534+15_1534+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC n.510+15_510+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC n.5841+15_5841+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.1819+15_1819+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.1645+15_1645+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.1621+15_1621+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.754+15_754+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.667+15_667+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC c.580+15_580+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC n.590+44_590+45insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | |
| 17 | g.45991571A>C | CA399977762 | MAPT | c.454A>C (p.Thr152Pro) c.367A>C (p.Thr123Pro) n.606A>C c.541A>C (p.Thr181Pro) n.405A>C c.1717A>C (p.Thr573Pro) c.1519A>C (p.Thr507Pro) c.1492A>C (p.Thr498Pro) n.495A>C n.5826A>C c.1804A>C (p.Thr602Pro) c.1630A>C (p.Thr544Pro) c.1606A>C (p.Thr536Pro) c.739A>C (p.Thr247Pro) c.652A>C (p.Thr218Pro) c.565A>C (p.Thr189Pro) n.590+14A>C | gnomAD v4 |
| 17 | g.45991571A>G | CA399977763 | MAPT | c.454A>G (p.Thr152Ala) c.367A>G (p.Thr123Ala) n.606A>G c.541A>G (p.Thr181Ala) n.405A>G c.1717A>G (p.Thr573Ala) c.1519A>G (p.Thr507Ala) c.1492A>G (p.Thr498Ala) n.495A>G n.5826A>G c.1804A>G (p.Thr602Ala) c.1630A>G (p.Thr544Ala) c.1606A>G (p.Thr536Ala) c.739A>G (p.Thr247Ala) c.652A>G (p.Thr218Ala) c.565A>G (p.Thr189Ala) n.590+14A>G | |
| 17 | g.45991571A>T | CA399977764 | MAPT | c.454A>T (p.Thr152Ser) c.367A>T (p.Thr123Ser) n.606A>T c.541A>T (p.Thr181Ser) n.405A>T c.1717A>T (p.Thr573Ser) c.1519A>T (p.Thr507Ser) c.1492A>T (p.Thr498Ser) n.495A>T n.5826A>T c.1804A>T (p.Thr602Ser) c.1630A>T (p.Thr544Ser) c.1606A>T (p.Thr536Ser) c.739A>T (p.Thr247Ser) c.652A>T (p.Thr218Ser) c.565A>T (p.Thr189Ser) n.590+14A>T | |
| 17 | g.45991572C>A | CA399977767 | MAPT | c.455C>A (p.Thr152Lys) c.368C>A (p.Thr123Lys) n.607C>A c.542C>A (p.Thr181Lys) n.406C>A c.1718C>A (p.Thr573Lys) c.1520C>A (p.Thr507Lys) c.1493C>A (p.Thr498Lys) n.496C>A n.5827C>A c.1805C>A (p.Thr602Lys) c.1631C>A (p.Thr544Lys) c.1607C>A (p.Thr536Lys) c.740C>A (p.Thr247Lys) c.653C>A (p.Thr218Lys) c.566C>A (p.Thr189Lys) n.590+15C>A | |
| 17 | g.45991572C>G | CA399977765 | MAPT | c.455C>G (p.Thr152Arg) c.368C>G (p.Thr123Arg) n.607C>G c.542C>G (p.Thr181Arg) n.406C>G c.1718C>G (p.Thr573Arg) c.1520C>G (p.Thr507Arg) c.1493C>G (p.Thr498Arg) n.496C>G n.5827C>G c.1805C>G (p.Thr602Arg) c.1631C>G (p.Thr544Arg) c.1607C>G (p.Thr536Arg) c.740C>G (p.Thr247Arg) c.653C>G (p.Thr218Arg) c.566C>G (p.Thr189Arg) n.590+15C>G | |
| 17 | g.45991572C>T | CA399977766 | MAPT | c.455C>T (p.Thr152Ile) c.368C>T (p.Thr123Ile) n.607C>T c.542C>T (p.Thr181Ile) n.406C>T c.1718C>T (p.Thr573Ile) c.1520C>T (p.Thr507Ile) c.1493C>T (p.Thr498Ile) n.496C>T n.5827C>T c.1805C>T (p.Thr602Ile) c.1631C>T (p.Thr544Ile) c.1607C>T (p.Thr536Ile) c.740C>T (p.Thr247Ile) c.653C>T (p.Thr218Ile) c.566C>T (p.Thr189Ile) n.590+15C>T | |
| 17 | g.45991573A= | CA2262092904 | MAPT | c.456A= (p.Thr152=) c.369A= (p.Thr123=) n.608A= c.543A= (p.Thr181=) n.407A= c.1719A= (p.Thr573=) c.1521A= (p.Thr507=) c.1494A= (p.Thr498=) n.497A= n.5828A= c.1806A= (p.Thr602=) c.1632A= (p.Thr544=) c.1608A= (p.Thr536=) c.741A= (p.Thr247=) c.654A= (p.Thr218=) c.567A= (p.Thr189=) n.590+16A= | |
| 17 | g.45991573A>C | CA500370527 | MAPT | c.456A>C (p.Thr152=) c.369A>C (p.Thr123=) n.608A>C c.543A>C (p.Thr181=) n.407A>C c.1719A>C (p.Thr573=) c.1521A>C (p.Thr507=) c.1494A>C (p.Thr498=) n.497A>C n.5828A>C c.1806A>C (p.Thr602=) c.1632A>C (p.Thr544=) c.1608A>C (p.Thr536=) c.741A>C (p.Thr247=) c.654A>C (p.Thr218=) c.567A>C (p.Thr189=) n.590+16A>C | |
| 17 | g.45991573A>G | CA500370529 | MAPT | c.456A>G (p.Thr152=) c.369A>G (p.Thr123=) n.608A>G c.543A>G (p.Thr181=) n.407A>G c.1719A>G (p.Thr573=) c.1521A>G (p.Thr507=) c.1494A>G (p.Thr498=) n.497A>G n.5828A>G c.1806A>G (p.Thr602=) c.1632A>G (p.Thr544=) c.1608A>G (p.Thr536=) c.741A>G (p.Thr247=) c.654A>G (p.Thr218=) c.567A>G (p.Thr189=) n.590+16A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.45991573A>T | CA500370528 | MAPT | c.456A>T (p.Thr152=) c.369A>T (p.Thr123=) n.608A>T c.543A>T (p.Thr181=) n.407A>T c.1719A>T (p.Thr573=) c.1521A>T (p.Thr507=) c.1494A>T (p.Thr498=) n.497A>T n.5828A>T c.1806A>T (p.Thr602=) c.1632A>T (p.Thr544=) c.1608A>T (p.Thr536=) c.741A>T (p.Thr247=) c.654A>T (p.Thr218=) c.567A>T (p.Thr189=) n.590+16A>T | |
| 17 | g.45991574C>A | CA399977768 | MAPT | c.457C>A (p.Pro153Thr) c.370C>A (p.Pro124Thr) n.609C>A c.544C>A (p.Pro182Thr) n.408C>A c.1720C>A (p.Pro574Thr) c.1522C>A (p.Pro508Thr) c.1495C>A (p.Pro499Thr) n.498C>A n.5829C>A c.1807C>A (p.Pro603Thr) c.1633C>A (p.Pro545Thr) c.1609C>A (p.Pro537Thr) c.742C>A (p.Pro248Thr) c.655C>A (p.Pro219Thr) c.568C>A (p.Pro190Thr) n.590+17C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.45991574C= | CA2262092905 | MAPT | c.457C= (p.Pro153=) c.370C= (p.Pro124=) n.609C= c.544C= (p.Pro182=) n.408C= c.1720C= (p.Pro574=) c.1522C= (p.Pro508=) c.1495C= (p.Pro499=) n.498C= n.5829C= c.1807C= (p.Pro603=) c.1633C= (p.Pro545=) c.1609C= (p.Pro537=) c.742C= (p.Pro248=) c.655C= (p.Pro219=) c.568C= (p.Pro190=) n.590+17C= | |
| 17 | g.45991574C>G | CA399977769 | MAPT | c.457C>G (p.Pro153Ala) c.370C>G (p.Pro124Ala) n.609C>G c.544C>G (p.Pro182Ala) n.408C>G c.1720C>G (p.Pro574Ala) c.1522C>G (p.Pro508Ala) c.1495C>G (p.Pro499Ala) n.498C>G n.5829C>G c.1807C>G (p.Pro603Ala) c.1633C>G (p.Pro545Ala) c.1609C>G (p.Pro537Ala) c.742C>G (p.Pro248Ala) c.655C>G (p.Pro219Ala) c.568C>G (p.Pro190Ala) n.590+17C>G | dbSNP |
| 17 | g.45991574C>T | CA399977770 | MAPT | c.457C>T (p.Pro153Ser) c.370C>T (p.Pro124Ser) n.609C>T c.544C>T (p.Pro182Ser) n.408C>T c.1720C>T (p.Pro574Ser) c.1522C>T (p.Pro508Ser) c.1495C>T (p.Pro499Ser) n.498C>T n.5829C>T c.1807C>T (p.Pro603Ser) c.1633C>T (p.Pro545Ser) c.1609C>T (p.Pro537Ser) c.742C>T (p.Pro248Ser) c.655C>T (p.Pro219Ser) c.568C>T (p.Pro190Ser) n.590+17C>T | |
| 17 | g.45991575C>A | CA399977771 | MAPT | c.458C>A (p.Pro153Gln) c.371C>A (p.Pro124Gln) n.610C>A c.545C>A (p.Pro182Gln) n.409C>A c.1721C>A (p.Pro574Gln) c.1523C>A (p.Pro508Gln) c.1496C>A (p.Pro499Gln) n.499C>A n.5830C>A c.1808C>A (p.Pro603Gln) c.1634C>A (p.Pro545Gln) c.1610C>A (p.Pro537Gln) c.743C>A (p.Pro248Gln) c.656C>A (p.Pro219Gln) c.569C>A (p.Pro190Gln) n.590+18C>A | |
| 17 | g.45991575C>G | CA399977772 | MAPT | c.458C>G (p.Pro153Arg) c.371C>G (p.Pro124Arg) n.610C>G c.545C>G (p.Pro182Arg) n.409C>G c.1721C>G (p.Pro574Arg) c.1523C>G (p.Pro508Arg) c.1496C>G (p.Pro499Arg) n.499C>G n.5830C>G c.1808C>G (p.Pro603Arg) c.1634C>G (p.Pro545Arg) c.1610C>G (p.Pro537Arg) c.743C>G (p.Pro248Arg) c.656C>G (p.Pro219Arg) c.569C>G (p.Pro190Arg) n.590+18C>G | |
| 17 | g.45991575C>T | CA399977773 | MAPT | c.458C>T (p.Pro153Leu) c.371C>T (p.Pro124Leu) n.610C>T c.545C>T (p.Pro182Leu) n.409C>T c.1721C>T (p.Pro574Leu) c.1523C>T (p.Pro508Leu) c.1496C>T (p.Pro499Leu) n.499C>T n.5830C>T c.1808C>T (p.Pro603Leu) c.1634C>T (p.Pro545Leu) c.1610C>T (p.Pro537Leu) c.743C>T (p.Pro248Leu) c.656C>T (p.Pro219Leu) c.569C>T (p.Pro190Leu) n.590+18C>T | |
| 17 | g.45991576A>C | CA500370531 | MAPT | c.459A>C (p.Pro153=) c.372A>C (p.Pro124=) n.611A>C c.546A>C (p.Pro182=) n.410A>C c.1722A>C (p.Pro574=) c.1524A>C (p.Pro508=) c.1497A>C (p.Pro499=) n.500A>C n.5831A>C c.1809A>C (p.Pro603=) c.1635A>C (p.Pro545=) c.1611A>C (p.Pro537=) c.744A>C (p.Pro248=) c.657A>C (p.Pro219=) c.570A>C (p.Pro190=) n.590+19A>C | |
| 17 | g.45991576A>G | CA500370533 | MAPT | c.459A>G (p.Pro153=) c.372A>G (p.Pro124=) n.611A>G c.546A>G (p.Pro182=) n.410A>G c.1722A>G (p.Pro574=) c.1524A>G (p.Pro508=) c.1497A>G (p.Pro499=) n.500A>G n.5831A>G c.1809A>G (p.Pro603=) c.1635A>G (p.Pro545=) c.1611A>G (p.Pro537=) c.744A>G (p.Pro248=) c.657A>G (p.Pro219=) c.570A>G (p.Pro190=) n.590+19A>G | |
| 17 | g.45991576A>T | CA500370532 | MAPT | c.459A>T (p.Pro153=) c.372A>T (p.Pro124=) n.611A>T c.546A>T (p.Pro182=) n.410A>T c.1722A>T (p.Pro574=) c.1524A>T (p.Pro508=) c.1497A>T (p.Pro499=) n.500A>T n.5831A>T c.1809A>T (p.Pro603=) c.1635A>T (p.Pro545=) c.1611A>T (p.Pro537=) c.744A>T (p.Pro248=) c.657A>T (p.Pro219=) c.570A>T (p.Pro190=) n.590+19A>T | |
| 17 | g.45991577C>A | CA399977775 | MAPT | c.460C>A (p.Pro154Thr) c.373C>A (p.Pro125Thr) n.612C>A c.547C>A (p.Pro183Thr) n.411C>A c.1723C>A (p.Pro575Thr) c.1525C>A (p.Pro509Thr) c.1498C>A (p.Pro500Thr) n.501C>A n.5832C>A c.1810C>A (p.Pro604Thr) c.1636C>A (p.Pro546Thr) c.1612C>A (p.Pro538Thr) c.745C>A (p.Pro249Thr) c.658C>A (p.Pro220Thr) c.571C>A (p.Pro191Thr) n.590+20C>A |