UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45996412A= | CA2262094959 | MAPT | c.483A= (p.Lys161=) c.396A= (p.Lys132=) c.570A= (p.Lys190=) n.434A= c.1746A= (p.Lys582=) c.1548A= (p.Lys516=) c.1521A= (p.Lys507=) c.1575A= (p.Lys525=) n.524A= n.5855A= c.1833A= (p.Lys611=) c.1659A= (p.Lys553=) c.1635A= (p.Lys545=) c.768A= (p.Lys256=) c.681A= (p.Lys227=) c.594A= (p.Lys198=) n.591-97A= | |
| 17 | g.45996412A>C | CA399977958 | MAPT | c.483A>C (p.Lys161Asn) c.396A>C (p.Lys132Asn) c.570A>C (p.Lys190Asn) n.434A>C c.1746A>C (p.Lys582Asn) c.1548A>C (p.Lys516Asn) c.1521A>C (p.Lys507Asn) c.1575A>C (p.Lys525Asn) n.524A>C n.5855A>C c.1833A>C (p.Lys611Asn) c.1659A>C (p.Lys553Asn) c.1635A>C (p.Lys545Asn) c.768A>C (p.Lys256Asn) c.681A>C (p.Lys227Asn) c.594A>C (p.Lys198Asn) n.591-97A>C | |
| 17 | g.45996412A>G | CA500643904 | MAPT | c.483A>G (p.Lys161=) c.396A>G (p.Lys132=) c.570A>G (p.Lys190=) n.434A>G c.1746A>G (p.Lys582=) c.1548A>G (p.Lys516=) c.1521A>G (p.Lys507=) c.1575A>G (p.Lys525=) n.524A>G n.5855A>G c.1833A>G (p.Lys611=) c.1659A>G (p.Lys553=) c.1635A>G (p.Lys545=) c.768A>G (p.Lys256=) c.681A>G (p.Lys227=) c.594A>G (p.Lys198=) n.591-97A>G | |
| 17 | g.45996412A>T | CA399977959 | MAPT | c.483A>T (p.Lys161Asn) c.396A>T (p.Lys132Asn) c.570A>T (p.Lys190Asn) n.434A>T c.1746A>T (p.Lys582Asn) c.1548A>T (p.Lys516Asn) c.1521A>T (p.Lys507Asn) c.1575A>T (p.Lys525Asn) n.524A>T n.5855A>T c.1833A>T (p.Lys611Asn) c.1659A>T (p.Lys553Asn) c.1635A>T (p.Lys545Asn) c.768A>T (p.Lys256Asn) c.681A>T (p.Lys227Asn) c.594A>T (p.Lys198Asn) n.591-97A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.45996413T>A | CA399977960 | MAPT | c.484T>A (p.Ser162Thr) c.397T>A (p.Ser133Thr) c.571T>A (p.Ser191Thr) n.435T>A c.1747T>A (p.Ser583Thr) c.1549T>A (p.Ser517Thr) c.1522T>A (p.Ser508Thr) c.1576T>A (p.Ser526Thr) n.525T>A n.5856T>A c.1834T>A (p.Ser612Thr) c.1660T>A (p.Ser554Thr) c.1636T>A (p.Ser546Thr) c.769T>A (p.Ser257Thr) c.682T>A (p.Ser228Thr) c.595T>A (p.Ser199Thr) n.591-96T>A | |
| 17 | g.45996413T>C | CA399977961 | MAPT | c.484T>C (p.Ser162Pro) c.397T>C (p.Ser133Pro) c.571T>C (p.Ser191Pro) n.435T>C c.1747T>C (p.Ser583Pro) c.1549T>C (p.Ser517Pro) c.1522T>C (p.Ser508Pro) c.1576T>C (p.Ser526Pro) n.525T>C n.5856T>C c.1834T>C (p.Ser612Pro) c.1660T>C (p.Ser554Pro) c.1636T>C (p.Ser546Pro) c.769T>C (p.Ser257Pro) c.682T>C (p.Ser228Pro) c.595T>C (p.Ser199Pro) n.591-96T>C | |
| 17 | g.45996413T>G | CA399977962 | MAPT | c.484T>G (p.Ser162Ala) c.397T>G (p.Ser133Ala) c.571T>G (p.Ser191Ala) n.435T>G c.1747T>G (p.Ser583Ala) c.1549T>G (p.Ser517Ala) c.1522T>G (p.Ser508Ala) c.1576T>G (p.Ser526Ala) n.525T>G n.5856T>G c.1834T>G (p.Ser612Ala) c.1660T>G (p.Ser554Ala) c.1636T>G (p.Ser546Ala) c.769T>G (p.Ser257Ala) c.682T>G (p.Ser228Ala) c.595T>G (p.Ser199Ala) n.591-96T>G | |
| 17 | g.45996414C>A | CA399977963 | MAPT | c.485C>A (p.Ser162Ter) c.398C>A (p.Ser133Ter) c.572C>A (p.Ser191Ter) n.436C>A c.1748C>A (p.Ser583Ter) c.1550C>A (p.Ser517Ter) c.1523C>A (p.Ser508Ter) c.1577C>A (p.Ser526Ter) n.526C>A n.5857C>A c.1835C>A (p.Ser612Ter) c.1661C>A (p.Ser554Ter) c.1637C>A (p.Ser546Ter) c.770C>A (p.Ser257Ter) c.683C>A (p.Ser228Ter) c.596C>A (p.Ser199Ter) n.591-95C>A | |
| 17 | g.45996414C>G | CA399977964 | MAPT | c.485C>G (p.Ser162Ter) c.398C>G (p.Ser133Ter) c.572C>G (p.Ser191Ter) n.436C>G c.1748C>G (p.Ser583Ter) c.1550C>G (p.Ser517Ter) c.1523C>G (p.Ser508Ter) c.1577C>G (p.Ser526Ter) n.526C>G n.5857C>G c.1835C>G (p.Ser612Ter) c.1661C>G (p.Ser554Ter) c.1637C>G (p.Ser546Ter) c.770C>G (p.Ser257Ter) c.683C>G (p.Ser228Ter) c.596C>G (p.Ser199Ter) n.591-95C>G | |
| 17 | g.45996414C>T | CA399977965 | MAPT | c.485C>T (p.Ser162Leu) c.398C>T (p.Ser133Leu) c.572C>T (p.Ser191Leu) n.436C>T c.1748C>T (p.Ser583Leu) c.1550C>T (p.Ser517Leu) c.1523C>T (p.Ser508Leu) c.1577C>T (p.Ser526Leu) n.526C>T n.5857C>T c.1835C>T (p.Ser612Leu) c.1661C>T (p.Ser554Leu) c.1637C>T (p.Ser546Leu) c.770C>T (p.Ser257Leu) c.683C>T (p.Ser228Leu) c.596C>T (p.Ser199Leu) n.591-95C>T | |
| 17 | g.45996415A= | CA2262094960 | MAPT | c.486A= (p.Ser162=) c.399A= (p.Ser133=) c.573A= (p.Ser191=) n.437A= c.1749A= (p.Ser583=) c.1551A= (p.Ser517=) c.1524A= (p.Ser508=) c.1578A= (p.Ser526=) n.527A= n.5858A= c.1836A= (p.Ser612=) c.1662A= (p.Ser554=) c.1638A= (p.Ser546=) c.771A= (p.Ser257=) c.684A= (p.Ser228=) c.597A= (p.Ser199=) n.591-94A= | |
| 17 | g.45996415A>C | CA500643905 | MAPT | c.486A>C (p.Ser162=) c.399A>C (p.Ser133=) c.573A>C (p.Ser191=) n.437A>C c.1749A>C (p.Ser583=) c.1551A>C (p.Ser517=) c.1524A>C (p.Ser508=) c.1578A>C (p.Ser526=) n.527A>C n.5858A>C c.1836A>C (p.Ser612=) c.1662A>C (p.Ser554=) c.1638A>C (p.Ser546=) c.771A>C (p.Ser257=) c.684A>C (p.Ser228=) c.597A>C (p.Ser199=) n.591-94A>C | ClinVar |
| 17 | g.45996415A>G | CA8618023 | MAPT | c.486A>G (p.Ser162=) c.399A>G (p.Ser133=) c.573A>G (p.Ser191=) n.437A>G c.1749A>G (p.Ser583=) c.1551A>G (p.Ser517=) c.1524A>G (p.Ser508=) c.1578A>G (p.Ser526=) n.527A>G n.5858A>G c.1836A>G (p.Ser612=) c.1662A>G (p.Ser554=) c.1638A>G (p.Ser546=) c.771A>G (p.Ser257=) c.684A>G (p.Ser228=) c.597A>G (p.Ser199=) n.591-94A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.45996415A>T | CA500643906 | MAPT | c.486A>T (p.Ser162=) c.399A>T (p.Ser133=) c.573A>T (p.Ser191=) n.437A>T c.1749A>T (p.Ser583=) c.1551A>T (p.Ser517=) c.1524A>T (p.Ser508=) c.1578A>T (p.Ser526=) n.527A>T n.5858A>T c.1836A>T (p.Ser612=) c.1662A>T (p.Ser554=) c.1638A>T (p.Ser546=) c.771A>T (p.Ser257=) c.684A>T (p.Ser228=) c.597A>T (p.Ser199=) n.591-94A>T | |
| 17 | g.45996415_45996416del | CA2573153981 | MAPT | c.486_487del (p.Asp164SerfsTer?) c.399_400del (p.Asp135SerfsTer?) c.573_574del (p.Asp193SerfsTer?) n.437_438del c.1749_1750del (p.Asp585SerfsTer?) c.1551_1552del (p.Asp519SerfsTer?) c.1524_1525del (p.Asp510SerfsTer?) c.1578_1579del (p.Asp528SerfsTer?) n.527_528del n.5858_5859del c.1836_1837del (p.Asp614SerfsTer?) c.1662_1663del (p.Asp556SerfsTer?) c.1638_1639del (p.Asp548SerfsTer?) c.771_772del (p.Asp259SerfsTer?) c.684_685del (p.Asp230SerfsTer?) c.597_598del (p.Asp201SerfsTer?) n.591-94_591-93del | ClinVar dbSNP |
| 17 | g.45996416G>A | CA399977967 | MAPT | c.487G>A (p.Gly163Arg) c.400G>A (p.Gly134Arg) c.574G>A (p.Gly192Arg) n.438G>A c.1750G>A (p.Gly584Arg) c.1552G>A (p.Gly518Arg) c.1525G>A (p.Gly509Arg) c.1579G>A (p.Gly527Arg) n.528G>A n.5859G>A c.1837G>A (p.Gly613Arg) c.1663G>A (p.Gly555Arg) c.1639G>A (p.Gly547Arg) c.772G>A (p.Gly258Arg) c.685G>A (p.Gly229Arg) c.598G>A (p.Gly200Arg) n.591-93G>A | ClinVar dbSNP |
| 17 | g.45996416G>C | CA399977966 | MAPT | c.487G>C (p.Gly163Arg) c.400G>C (p.Gly134Arg) c.574G>C (p.Gly192Arg) n.438G>C c.1750G>C (p.Gly584Arg) c.1552G>C (p.Gly518Arg) c.1525G>C (p.Gly509Arg) c.1579G>C (p.Gly527Arg) n.528G>C n.5859G>C c.1837G>C (p.Gly613Arg) c.1663G>C (p.Gly555Arg) c.1639G>C (p.Gly547Arg) c.772G>C (p.Gly258Arg) c.685G>C (p.Gly229Arg) c.598G>C (p.Gly200Arg) n.591-93G>C | gnomAD v4 |
| 17 | g.45996416G= | CA2262094961 | MAPT | c.487G= (p.Gly163=) c.400G= (p.Gly134=) c.574G= (p.Gly192=) n.438G= c.1750G= (p.Gly584=) c.1552G= (p.Gly518=) c.1525G= (p.Gly509=) c.1579G= (p.Gly527=) n.528G= n.5859G= c.1837G= (p.Gly613=) c.1663G= (p.Gly555=) c.1639G= (p.Gly547=) c.772G= (p.Gly258=) c.685G= (p.Gly229=) c.598G= (p.Gly200=) n.591-93G= | |
| 17 | g.45996416G>T | CA399977968 | MAPT | c.487G>T (p.Gly163Trp) c.400G>T (p.Gly134Trp) c.574G>T (p.Gly192Trp) n.438G>T c.1750G>T (p.Gly584Trp) c.1552G>T (p.Gly518Trp) c.1525G>T (p.Gly509Trp) c.1579G>T (p.Gly527Trp) n.528G>T n.5859G>T c.1837G>T (p.Gly613Trp) c.1663G>T (p.Gly555Trp) c.1639G>T (p.Gly547Trp) c.772G>T (p.Gly258Trp) c.685G>T (p.Gly229Trp) c.598G>T (p.Gly200Trp) n.591-93G>T | |
| 17 | g.45996417G>A | CA399977969 | MAPT | c.488G>A (p.Gly163Glu) c.401G>A (p.Gly134Glu) c.575G>A (p.Gly192Glu) n.439G>A c.1751G>A (p.Gly584Glu) c.1553G>A (p.Gly518Glu) c.1526G>A (p.Gly509Glu) c.1580G>A (p.Gly527Glu) n.529G>A n.5860G>A c.1838G>A (p.Gly613Glu) c.1664G>A (p.Gly555Glu) c.1640G>A (p.Gly547Glu) c.773G>A (p.Gly258Glu) c.686G>A (p.Gly229Glu) c.599G>A (p.Gly200Glu) n.591-92G>A | gnomAD v4 |
| 17 | g.45996417G>C | CA399977970 | MAPT | c.488G>C (p.Gly163Ala) c.401G>C (p.Gly134Ala) c.575G>C (p.Gly192Ala) n.439G>C c.1751G>C (p.Gly584Ala) c.1553G>C (p.Gly518Ala) c.1526G>C (p.Gly509Ala) c.1580G>C (p.Gly527Ala) n.529G>C n.5860G>C c.1838G>C (p.Gly613Ala) c.1664G>C (p.Gly555Ala) c.1640G>C (p.Gly547Ala) c.773G>C (p.Gly258Ala) c.686G>C (p.Gly229Ala) c.599G>C (p.Gly200Ala) n.591-92G>C | |
| 17 | g.45996417G>T | CA399977971 | MAPT | c.488G>T (p.Gly163Val) c.401G>T (p.Gly134Val) c.575G>T (p.Gly192Val) n.439G>T c.1751G>T (p.Gly584Val) c.1553G>T (p.Gly518Val) c.1526G>T (p.Gly509Val) c.1580G>T (p.Gly527Val) n.529G>T n.5860G>T c.1838G>T (p.Gly613Val) c.1664G>T (p.Gly555Val) c.1640G>T (p.Gly547Val) c.773G>T (p.Gly258Val) c.686G>T (p.Gly229Val) c.599G>T (p.Gly200Val) n.591-92G>T | gnomAD v4 |
| 17 | g.45996418G>A | CA291107180 | MAPT | c.489G>A (p.Gly163=) c.402G>A (p.Gly134=) c.576G>A (p.Gly192=) n.440G>A c.1752G>A (p.Gly584=) c.1554G>A (p.Gly518=) c.1527G>A (p.Gly509=) c.1581G>A (p.Gly527=) n.530G>A n.5861G>A c.1839G>A (p.Gly613=) c.1665G>A (p.Gly555=) c.1641G>A (p.Gly547=) c.774G>A (p.Gly258=) c.687G>A (p.Gly229=) c.600G>A (p.Gly200=) n.591-91G>A | ClinVar dbSNP |
| 17 | g.45996418G>C | CA500643907 | MAPT | c.489G>C (p.Gly163=) c.402G>C (p.Gly134=) c.576G>C (p.Gly192=) n.440G>C c.1752G>C (p.Gly584=) c.1554G>C (p.Gly518=) c.1527G>C (p.Gly509=) c.1581G>C (p.Gly527=) n.530G>C n.5861G>C c.1839G>C (p.Gly613=) c.1665G>C (p.Gly555=) c.1641G>C (p.Gly547=) c.774G>C (p.Gly258=) c.687G>C (p.Gly229=) c.600G>C (p.Gly200=) n.591-91G>C | |
| 17 | g.45996418G= | CA2262094962 | MAPT | c.489G= (p.Gly163=) c.402G= (p.Gly134=) c.576G= (p.Gly192=) n.440G= c.1752G= (p.Gly584=) c.1554G= (p.Gly518=) c.1527G= (p.Gly509=) c.1581G= (p.Gly527=) n.530G= n.5861G= c.1839G= (p.Gly613=) c.1665G= (p.Gly555=) c.1641G= (p.Gly547=) c.774G= (p.Gly258=) c.687G= (p.Gly229=) c.600G= (p.Gly200=) n.591-91G= | |
| 17 | g.45996418G>T | CA500643908 | MAPT | c.489G>T (p.Gly163=) c.402G>T (p.Gly134=) c.576G>T (p.Gly192=) n.440G>T c.1752G>T (p.Gly584=) c.1554G>T (p.Gly518=) c.1527G>T (p.Gly509=) c.1581G>T (p.Gly527=) n.530G>T n.5861G>T c.1839G>T (p.Gly613=) c.1665G>T (p.Gly555=) c.1641G>T (p.Gly547=) c.774G>T (p.Gly258=) c.687G>T (p.Gly229=) c.600G>T (p.Gly200=) n.591-91G>T | gnomAD v4 |
| 17 | g.45996419G>A | CA399977972 | MAPT | c.490G>A (p.Asp164Asn) c.403G>A (p.Asp135Asn) c.577G>A (p.Asp193Asn) n.441G>A c.1753G>A (p.Asp585Asn) c.1555G>A (p.Asp519Asn) c.1528G>A (p.Asp510Asn) c.1582G>A (p.Asp528Asn) n.531G>A n.5862G>A c.1840G>A (p.Asp614Asn) c.1666G>A (p.Asp556Asn) c.1642G>A (p.Asp548Asn) c.775G>A (p.Asp259Asn) c.688G>A (p.Asp230Asn) c.601G>A (p.Asp201Asn) n.591-90G>A | |
| 17 | g.45996419G>C | CA399977973 | MAPT | c.490G>C (p.Asp164His) c.403G>C (p.Asp135His) c.577G>C (p.Asp193His) n.441G>C c.1753G>C (p.Asp585His) c.1555G>C (p.Asp519His) c.1528G>C (p.Asp510His) c.1582G>C (p.Asp528His) n.531G>C n.5862G>C c.1840G>C (p.Asp614His) c.1666G>C (p.Asp556His) c.1642G>C (p.Asp548His) c.775G>C (p.Asp259His) c.688G>C (p.Asp230His) c.601G>C (p.Asp201His) n.591-90G>C | |
| 17 | g.45996419G>T | CA399977974 | MAPT | c.490G>T (p.Asp164Tyr) c.403G>T (p.Asp135Tyr) c.577G>T (p.Asp193Tyr) n.441G>T c.1753G>T (p.Asp585Tyr) c.1555G>T (p.Asp519Tyr) c.1528G>T (p.Asp510Tyr) c.1582G>T (p.Asp528Tyr) n.531G>T n.5862G>T c.1840G>T (p.Asp614Tyr) c.1666G>T (p.Asp556Tyr) c.1642G>T (p.Asp548Tyr) c.775G>T (p.Asp259Tyr) c.688G>T (p.Asp230Tyr) c.601G>T (p.Asp201Tyr) n.591-90G>T | |
| 17 | g.45996420A>C | CA399977975 | MAPT | c.491A>C (p.Asp164Ala) c.404A>C (p.Asp135Ala) c.578A>C (p.Asp193Ala) n.442A>C c.1754A>C (p.Asp585Ala) c.1556A>C (p.Asp519Ala) c.1529A>C (p.Asp510Ala) c.1583A>C (p.Asp528Ala) n.532A>C n.5863A>C c.1841A>C (p.Asp614Ala) c.1667A>C (p.Asp556Ala) c.1643A>C (p.Asp548Ala) c.776A>C (p.Asp259Ala) c.689A>C (p.Asp230Ala) c.602A>C (p.Asp201Ala) n.591-89A>C | |
| 17 | g.45996420A>G | CA399977976 | MAPT | c.491A>G (p.Asp164Gly) c.404A>G (p.Asp135Gly) c.578A>G (p.Asp193Gly) n.442A>G c.1754A>G (p.Asp585Gly) c.1556A>G (p.Asp519Gly) c.1529A>G (p.Asp510Gly) c.1583A>G (p.Asp528Gly) n.532A>G n.5863A>G c.1841A>G (p.Asp614Gly) c.1667A>G (p.Asp556Gly) c.1643A>G (p.Asp548Gly) c.776A>G (p.Asp259Gly) c.689A>G (p.Asp230Gly) c.602A>G (p.Asp201Gly) n.591-89A>G | |
| 17 | g.45996420A>T | CA399977977 | MAPT | c.491A>T (p.Asp164Val) c.404A>T (p.Asp135Val) c.578A>T (p.Asp193Val) n.442A>T c.1754A>T (p.Asp585Val) c.1556A>T (p.Asp519Val) c.1529A>T (p.Asp510Val) c.1583A>T (p.Asp528Val) n.532A>T n.5863A>T c.1841A>T (p.Asp614Val) c.1667A>T (p.Asp556Val) c.1643A>T (p.Asp548Val) c.776A>T (p.Asp259Val) c.689A>T (p.Asp230Val) c.602A>T (p.Asp201Val) n.591-89A>T | gnomAD v4 |
| 17 | g.45996421T>A | CA399977978 | MAPT | c.492T>A (p.Asp164Glu) c.405T>A (p.Asp135Glu) c.579T>A (p.Asp193Glu) n.443T>A c.1755T>A (p.Asp585Glu) c.1557T>A (p.Asp519Glu) c.1530T>A (p.Asp510Glu) c.1584T>A (p.Asp528Glu) n.533T>A n.5864T>A c.1842T>A (p.Asp614Glu) c.1668T>A (p.Asp556Glu) c.1644T>A (p.Asp548Glu) c.777T>A (p.Asp259Glu) c.690T>A (p.Asp230Glu) c.603T>A (p.Asp201Glu) n.591-88T>A | |
| 17 | g.45996421T>C | CA500643909 | MAPT | c.492T>C (p.Asp164=) c.405T>C (p.Asp135=) c.579T>C (p.Asp193=) n.443T>C c.1755T>C (p.Asp585=) c.1557T>C (p.Asp519=) c.1530T>C (p.Asp510=) c.1584T>C (p.Asp528=) n.533T>C n.5864T>C c.1842T>C (p.Asp614=) c.1668T>C (p.Asp556=) c.1644T>C (p.Asp548=) c.777T>C (p.Asp259=) c.690T>C (p.Asp230=) c.603T>C (p.Asp201=) n.591-88T>C | |
| 17 | g.45996421T>G | CA399977979 | MAPT | c.492T>G (p.Asp164Glu) c.405T>G (p.Asp135Glu) c.579T>G (p.Asp193Glu) n.443T>G c.1755T>G (p.Asp585Glu) c.1557T>G (p.Asp519Glu) c.1530T>G (p.Asp510Glu) c.1584T>G (p.Asp528Glu) n.533T>G n.5864T>G c.1842T>G (p.Asp614Glu) c.1668T>G (p.Asp556Glu) c.1644T>G (p.Asp548Glu) c.777T>G (p.Asp259Glu) c.690T>G (p.Asp230Glu) c.603T>G (p.Asp201Glu) n.591-88T>G | |
| 17 | g.45996422C>A | CA399977981 | MAPT | c.493C>A (p.Arg165Ser) c.406C>A (p.Arg136Ser) c.580C>A (p.Arg194Ser) n.444C>A c.1756C>A (p.Arg586Ser) c.1558C>A (p.Arg520Ser) c.1531C>A (p.Arg511Ser) c.1585C>A (p.Arg529Ser) n.534C>A n.5865C>A c.1843C>A (p.Arg615Ser) c.1669C>A (p.Arg557Ser) c.1645C>A (p.Arg549Ser) c.778C>A (p.Arg260Ser) c.691C>A (p.Arg231Ser) c.604C>A (p.Arg202Ser) n.591-87C>A | |
| 17 | g.45996422C= | CA2262094963 | MAPT | c.493C= (p.Arg165=) c.406C= (p.Arg136=) c.580C= (p.Arg194=) n.444C= c.1756C= (p.Arg586=) c.1558C= (p.Arg520=) c.1531C= (p.Arg511=) c.1585C= (p.Arg529=) n.534C= n.5865C= c.1843C= (p.Arg615=) c.1669C= (p.Arg557=) c.1645C= (p.Arg549=) c.778C= (p.Arg260=) c.691C= (p.Arg231=) c.604C= (p.Arg202=) n.591-87C= | |
| 17 | g.45996422C>G | CA399977980 | MAPT | c.493C>G (p.Arg165Gly) c.406C>G (p.Arg136Gly) c.580C>G (p.Arg194Gly) n.444C>G c.1756C>G (p.Arg586Gly) c.1558C>G (p.Arg520Gly) c.1531C>G (p.Arg511Gly) c.1585C>G (p.Arg529Gly) n.534C>G n.5865C>G c.1843C>G (p.Arg615Gly) c.1669C>G (p.Arg557Gly) c.1645C>G (p.Arg549Gly) c.778C>G (p.Arg260Gly) c.691C>G (p.Arg231Gly) c.604C>G (p.Arg202Gly) n.591-87C>G | |
| 17 | g.45996422C>T | CA8618024 | MAPT | c.493C>T (p.Arg165Cys) c.406C>T (p.Arg136Cys) c.580C>T (p.Arg194Cys) n.444C>T c.1756C>T (p.Arg586Cys) c.1558C>T (p.Arg520Cys) c.1531C>T (p.Arg511Cys) c.1585C>T (p.Arg529Cys) n.534C>T n.5865C>T c.1843C>T (p.Arg615Cys) c.1669C>T (p.Arg557Cys) c.1645C>T (p.Arg549Cys) c.778C>T (p.Arg260Cys) c.691C>T (p.Arg231Cys) c.604C>T (p.Arg202Cys) n.591-87C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.45996423G>A | CA8618025 | MAPT | c.494G>A (p.Arg165His) c.407G>A (p.Arg136His) c.581G>A (p.Arg194His) n.445G>A c.1757G>A (p.Arg586His) c.1559G>A (p.Arg520His) c.1532G>A (p.Arg511His) c.1586G>A (p.Arg529His) n.535G>A n.5866G>A c.1844G>A (p.Arg615His) c.1670G>A (p.Arg557His) c.1646G>A (p.Arg549His) c.779G>A (p.Arg260His) c.692G>A (p.Arg231His) c.605G>A (p.Arg202His) n.591-86G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.45996423G>C | CA399977982 | MAPT | c.494G>C (p.Arg165Pro) c.407G>C (p.Arg136Pro) c.581G>C (p.Arg194Pro) n.445G>C c.1757G>C (p.Arg586Pro) c.1559G>C (p.Arg520Pro) c.1532G>C (p.Arg511Pro) c.1586G>C (p.Arg529Pro) n.535G>C n.5866G>C c.1844G>C (p.Arg615Pro) c.1670G>C (p.Arg557Pro) c.1646G>C (p.Arg549Pro) c.779G>C (p.Arg260Pro) c.692G>C (p.Arg231Pro) c.605G>C (p.Arg202Pro) n.591-86G>C | |
| 17 | g.45996423G= | CA2262094964 | MAPT | c.494G= (p.Arg165=) c.407G= (p.Arg136=) c.581G= (p.Arg194=) n.445G= c.1757G= (p.Arg586=) c.1559G= (p.Arg520=) c.1532G= (p.Arg511=) c.1586G= (p.Arg529=) n.535G= n.5866G= c.1844G= (p.Arg615=) c.1670G= (p.Arg557=) c.1646G= (p.Arg549=) c.779G= (p.Arg260=) c.692G= (p.Arg231=) c.605G= (p.Arg202=) n.591-86G= | |
| 17 | g.45996423G>T | CA399977983 | MAPT | c.494G>T (p.Arg165Leu) c.407G>T (p.Arg136Leu) c.581G>T (p.Arg194Leu) n.445G>T c.1757G>T (p.Arg586Leu) c.1559G>T (p.Arg520Leu) c.1532G>T (p.Arg511Leu) c.1586G>T (p.Arg529Leu) n.535G>T n.5866G>T c.1844G>T (p.Arg615Leu) c.1670G>T (p.Arg557Leu) c.1646G>T (p.Arg549Leu) c.779G>T (p.Arg260Leu) c.692G>T (p.Arg231Leu) c.605G>T (p.Arg202Leu) n.591-86G>T | |
| 17 | g.45996424C>A | CA500643912 | MAPT | c.495C>A (p.Arg165=) c.408C>A (p.Arg136=) c.582C>A (p.Arg194=) n.446C>A c.1758C>A (p.Arg586=) c.1560C>A (p.Arg520=) c.1533C>A (p.Arg511=) c.1587C>A (p.Arg529=) n.536C>A n.5867C>A c.1845C>A (p.Arg615=) c.1671C>A (p.Arg557=) c.1647C>A (p.Arg549=) c.780C>A (p.Arg260=) c.693C>A (p.Arg231=) c.606C>A (p.Arg202=) n.591-85C>A | |
| 17 | g.45996424C>G | CA500643911 | MAPT | c.495C>G (p.Arg165=) c.408C>G (p.Arg136=) c.582C>G (p.Arg194=) n.446C>G c.1758C>G (p.Arg586=) c.1560C>G (p.Arg520=) c.1533C>G (p.Arg511=) c.1587C>G (p.Arg529=) n.536C>G n.5867C>G c.1845C>G (p.Arg615=) c.1671C>G (p.Arg557=) c.1647C>G (p.Arg549=) c.780C>G (p.Arg260=) c.693C>G (p.Arg231=) c.606C>G (p.Arg202=) n.591-85C>G | |
| 17 | g.45996424C>T | CA500643910 | MAPT | c.495C>T (p.Arg165=) c.408C>T (p.Arg136=) c.582C>T (p.Arg194=) n.446C>T c.1758C>T (p.Arg586=) c.1560C>T (p.Arg520=) c.1533C>T (p.Arg511=) c.1587C>T (p.Arg529=) n.536C>T n.5867C>T c.1845C>T (p.Arg615=) c.1671C>T (p.Arg557=) c.1647C>T (p.Arg549=) c.780C>T (p.Arg260=) c.693C>T (p.Arg231=) c.606C>T (p.Arg202=) n.591-85C>T | |
| 17 | g.45996425A>C | CA399977984 | MAPT | c.496A>C (p.Ser166Arg) c.409A>C (p.Ser137Arg) c.583A>C (p.Ser195Arg) n.447A>C c.1759A>C (p.Ser587Arg) c.1561A>C (p.Ser521Arg) c.1534A>C (p.Ser512Arg) c.1588A>C (p.Ser530Arg) n.537A>C n.5868A>C c.1846A>C (p.Ser616Arg) c.1672A>C (p.Ser558Arg) c.1648A>C (p.Ser550Arg) c.781A>C (p.Ser261Arg) c.694A>C (p.Ser232Arg) c.607A>C (p.Ser203Arg) n.591-84A>C | |
| 17 | g.45996425A>G | CA399977985 | MAPT | c.496A>G (p.Ser166Gly) c.409A>G (p.Ser137Gly) c.583A>G (p.Ser195Gly) n.447A>G c.1759A>G (p.Ser587Gly) c.1561A>G (p.Ser521Gly) c.1534A>G (p.Ser512Gly) c.1588A>G (p.Ser530Gly) n.537A>G n.5868A>G c.1846A>G (p.Ser616Gly) c.1672A>G (p.Ser558Gly) c.1648A>G (p.Ser550Gly) c.781A>G (p.Ser261Gly) c.694A>G (p.Ser232Gly) c.607A>G (p.Ser203Gly) n.591-84A>G | |
| 17 | g.45996425A>T | CA399977986 | MAPT | c.496A>T (p.Ser166Cys) c.409A>T (p.Ser137Cys) c.583A>T (p.Ser195Cys) n.447A>T c.1759A>T (p.Ser587Cys) c.1561A>T (p.Ser521Cys) c.1534A>T (p.Ser512Cys) c.1588A>T (p.Ser530Cys) n.537A>T n.5868A>T c.1846A>T (p.Ser616Cys) c.1672A>T (p.Ser558Cys) c.1648A>T (p.Ser550Cys) c.781A>T (p.Ser261Cys) c.694A>T (p.Ser232Cys) c.607A>T (p.Ser203Cys) n.591-84A>T | |
| 17 | g.45996426G>A | CA399977987 | MAPT | c.497G>A (p.Ser166Asn) c.410G>A (p.Ser137Asn) c.584G>A (p.Ser195Asn) n.448G>A c.1760G>A (p.Ser587Asn) c.1562G>A (p.Ser521Asn) c.1535G>A (p.Ser512Asn) c.1589G>A (p.Ser530Asn) n.538G>A n.5869G>A c.1847G>A (p.Ser616Asn) c.1673G>A (p.Ser558Asn) c.1649G>A (p.Ser550Asn) c.782G>A (p.Ser261Asn) c.695G>A (p.Ser232Asn) c.608G>A (p.Ser203Asn) n.591-83G>A |