| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.29530410A>C | CA398913480 | TAOK1 | c.2152A>C (p.Lys718Gln) c.1708A>C (p.Lys570Gln) n.236A>C | |
| 17 | g.29530410A>G | CA398913484 | TAOK1 | c.2152A>G (p.Lys718Glu) c.1708A>G (p.Lys570Glu) n.236A>G | |
| 17 | g.29530410A>T | CA398913486 | TAOK1 | c.2152A>T (p.Lys718Ter) c.1708A>T (p.Lys570Ter) n.236A>T | |
| 17 | g.29530411A>C | CA398913491 | TAOK1 | c.2153A>C (p.Lys718Thr) c.1709A>C (p.Lys570Thr) n.237A>C | |
| 17 | g.29530411A>G | CA398913494 | TAOK1 | c.2153A>G (p.Lys718Arg) c.1709A>G (p.Lys570Arg) n.237A>G | |
| 17 | g.29530411A>T | CA398913496 | TAOK1 | c.2153A>T (p.Lys718Ile) c.1709A>T (p.Lys570Ile) n.237A>T | |
| 17 | g.29530412A>C | CA398913499 | TAOK1 | c.2154A>C (p.Lys718Asn) c.1710A>C (p.Lys570Asn) n.238A>C | |
| 17 | g.29530412A>G | CA499151646 | TAOK1 | c.2154A>G (p.Lys718=) c.1710A>G (p.Lys570=) n.238A>G | |
| 17 | g.29530412A>T | CA398913501 | TAOK1 | c.2154A>T (p.Lys718Asn) c.1710A>T (p.Lys570Asn) n.238A>T | |
| 17 | g.29530413G>A | CA398913505 | TAOK1 | c.2155G>A (p.Glu719Lys) c.1711G>A (p.Glu571Lys) n.239G>A | |
| 17 | g.29530413G>C | CA398913508 | TAOK1 | c.2155G>C (p.Glu719Gln) c.1711G>C (p.Glu571Gln) n.239G>C | |
| 17 | g.29530413G>T | CA398913511 | TAOK1 | c.2155G>T (p.Glu719Ter) c.1711G>T (p.Glu571Ter) n.239G>T | COSMIC |
| 17 | g.29530414A= | CA2254806441 | TAOK1 | c.2156A= (p.Glu719=) c.1712A= (p.Glu571=) n.240A= | |
| 17 | g.29530414A>C | CA398913515 | TAOK1 | c.2156A>C (p.Glu719Ala) c.1712A>C (p.Glu571Ala) n.240A>C | |
| 17 | g.29530414A>G | CA289198983 | TAOK1 | c.2156A>G (p.Glu719Gly) c.1712A>G (p.Glu571Gly) n.240A>G | dbSNP |
| 17 | g.29530414A>T | CA398913520 | TAOK1 | c.2156A>T (p.Glu719Val) c.1712A>T (p.Glu571Val) n.240A>T | |
| 17 | g.29530415A>C | CA398913525 | TAOK1 | c.2157A>C (p.Glu719Asp) c.1713A>C (p.Glu571Asp) n.241A>C | |
| 17 | g.29530415A>G | CA499151647 | TAOK1 | c.2157A>G (p.Glu719=) c.1713A>G (p.Glu571=) n.241A>G | |
| 17 | g.29530415A>T | CA398913527 | TAOK1 | c.2157A>T (p.Glu719Asp) c.1713A>T (p.Glu571Asp) n.241A>T | |
| 17 | g.29530416C>A | CA398913532 | TAOK1 | c.2158C>A (p.Leu720Ile) c.1714C>A (p.Leu572Ile) n.242C>A | |
| 17 | g.29530416C>G | CA398913534 | TAOK1 | c.2158C>G (p.Leu720Val) c.1714C>G (p.Leu572Val) n.242C>G | |
| 17 | g.29530416C>T | CA398913536 | TAOK1 | c.2158C>T (p.Leu720Phe) c.1714C>T (p.Leu572Phe) n.242C>T | gnomAD v4 |
| 17 | g.29530417T>A | CA398913540 | TAOK1 | c.2159T>A (p.Leu720His) c.1715T>A (p.Leu572His) n.243T>A | |
| 17 | g.29530417T>C | CA398913543 | TAOK1 | c.2159T>C (p.Leu720Pro) c.1715T>C (p.Leu572Pro) n.243T>C | |
| 17 | g.29530417T>G | CA398913545 | TAOK1 | c.2159T>G (p.Leu720Arg) c.1715T>G (p.Leu572Arg) n.243T>G | |
| 17 | g.29530418C>A | CA499151648 | TAOK1 | c.2160C>A (p.Leu720=) c.1716C>A (p.Leu572=) n.244C>A | |
| 17 | g.29530418C>G | CA499151649 | TAOK1 | c.2160C>G (p.Leu720=) c.1716C>G (p.Leu572=) n.244C>G | |
| 17 | g.29530418C>T | CA499151650 | TAOK1 | c.2160C>T (p.Leu720=) c.1716C>T (p.Leu572=) n.244C>T | |
| 17 | g.29530419C>A | CA398913551 | TAOK1 | c.2161C>A (p.Gln721Lys) c.1717C>A (p.Gln573Lys) n.245C>A | |
| 17 | g.29530419C>G | CA398913554 | TAOK1 | c.2161C>G (p.Gln721Glu) c.1717C>G (p.Gln573Glu) n.245C>G | |
| 17 | g.29530419C>T | CA398913556 | TAOK1 | c.2161C>T (p.Gln721Ter) c.1717C>T (p.Gln573Ter) n.245C>T | ClinVar dbSNP COSMIC |
| 17 | g.29530420A>C | CA398913562 | TAOK1 | c.2162A>C (p.Gln721Pro) c.1718A>C (p.Gln573Pro) n.246A>C | |
| 17 | g.29530420A>G | CA398913564 | TAOK1 | c.2162A>G (p.Gln721Arg) c.1718A>G (p.Gln573Arg) n.246A>G | |
| 17 | g.29530420A>T | CA398913567 | TAOK1 | c.2162A>T (p.Gln721Leu) c.1718A>T (p.Gln573Leu) n.246A>T | |
| 17 | g.29530421A= | CA2254806442 | TAOK1 | c.2163A= (p.Gln721=) c.1719A= (p.Gln573=) n.247A= | |
| 17 | g.29530421A>C | CA398913571 | TAOK1 | c.2163A>C (p.Gln721His) c.1719A>C (p.Gln573His) n.247A>C | dbSNP gnomAD v2 |
| 17 | g.29530421A>G | CA499151651 | TAOK1 | c.2163A>G (p.Gln721=) c.1719A>G (p.Gln573=) n.247A>G | |
| 17 | g.29530421A>T | CA398913574 | TAOK1 | c.2163A>T (p.Gln721His) c.1719A>T (p.Gln573His) n.247A>T | |
| 17 | g.29530422A>C | CA398913577 | TAOK1 | c.2164A>C (p.Ile722Leu) c.1720A>C (p.Ile574Leu) n.248A>C | |
| 17 | g.29530422A>G | CA398913584 | TAOK1 | c.2164A>G (p.Ile722Val) c.1720A>G (p.Ile574Val) n.248A>G | |
| 17 | g.29530422A>T | CA398913581 | TAOK1 | c.2164A>T (p.Ile722Leu) c.1720A>T (p.Ile574Leu) n.248A>T | |
| 17 | g.29530423T>A | CA398913589 | TAOK1 | c.2165T>A (p.Ile722Lys) c.1721T>A (p.Ile574Lys) n.249T>A | |
| 17 | g.29530423T>C | CA398913592 | TAOK1 | c.2165T>C (p.Ile722Thr) c.1721T>C (p.Ile574Thr) n.249T>C | |
| 17 | g.29530423T>G | CA398913595 | TAOK1 | c.2165T>G (p.Ile722Arg) c.1721T>G (p.Ile574Arg) n.249T>G | |
| 17 | g.29530423_29530424delinsTA | CA2254806443 | TAOK1 | c.2165_2166delinsTA (p.Ile722=) c.1721_1722delinsTA (p.Ile574=) n.249_250delinsTA | |
| 17 | g.29530424A>C | CA499151652 | TAOK1 | c.2166A>C (p.Ile722=) c.1722A>C (p.Ile574=) n.250A>C | |
| 17 | g.29530424A>G | CA398913599 | TAOK1 | c.2166A>G (p.Ile722Met) c.1722A>G (p.Ile574Met) n.250A>G | |
| 17 | g.29530424A>T | CA499151653 | TAOK1 | c.2166A>T (p.Ile722=) c.1722A>T (p.Ile574=) n.250A>T | |
| 17 | g.29530429del | CA398913604 | TAOK1 | c.2171del (p.Lys724SerfsTer17) c.1727del (p.Lys576SerfsTer17) n.255del | dbSNP |
| 17 | g.29530425A>C | CA398913609 | TAOK1 | c.2167A>C (p.Lys723Gln) c.1723A>C (p.Lys575Gln) n.251A>C | |
| 17 | g.29530425A>G | CA398913612 | TAOK1 | c.2167A>G (p.Lys723Glu) c.1723A>G (p.Lys575Glu) n.251A>G | |
| 17 | g.29530425A>T | CA398913615 | TAOK1 | c.2167A>T (p.Lys723Ter) c.1723A>T (p.Lys575Ter) n.251A>T | |
| 17 | g.29530426A>C | CA398913619 | TAOK1 | c.2168A>C (p.Lys723Thr) c.1724A>C (p.Lys575Thr) n.252A>C | |
| 17 | g.29530426A>G | CA398913621 | TAOK1 | c.2168A>G (p.Lys723Arg) c.1724A>G (p.Lys575Arg) n.252A>G | |
| 17 | g.29530426A>T | CA398913624 | TAOK1 | c.2168A>T (p.Lys723Ile) c.1724A>T (p.Lys575Ile) n.252A>T | |
| 17 | g.29530427A= | CA2254806444 | TAOK1 | c.2169A= (p.Lys723=) c.1725A= (p.Lys575=) n.253A= | |
| 17 | g.29530427A>C | CA398913630 | TAOK1 | c.2169A>C (p.Lys723Asn) c.1725A>C (p.Lys575Asn) n.253A>C | |
| 17 | g.29530427A>G | CA499151654 | TAOK1 | c.2169A>G (p.Lys723=) c.1725A>G (p.Lys575=) n.253A>G | dbSNP gnomAD v4 |
| 17 | g.29530427A>T | CA398913627 | TAOK1 | c.2169A>T (p.Lys723Asn) c.1725A>T (p.Lys575Asn) n.253A>T | |
| 17 | g.29530428A>C | CA398913634 | TAOK1 | c.2170A>C (p.Lys724Gln) c.1726A>C (p.Lys576Gln) n.254A>C | |
| 17 | g.29530428A>G | CA398913637 | TAOK1 | c.2170A>G (p.Lys724Glu) c.1726A>G (p.Lys576Glu) n.254A>G | |
| 17 | g.29530428A>T | CA398913638 | TAOK1 | c.2170A>T (p.Lys724Ter) c.1726A>T (p.Lys576Ter) n.254A>T | |
| 17 | g.29530429A>C | CA398913642 | TAOK1 | c.2171A>C (p.Lys724Thr) c.1727A>C (p.Lys576Thr) n.255A>C | |
| 17 | g.29530429A>G | CA398913645 | TAOK1 | c.2171A>G (p.Lys724Arg) c.1727A>G (p.Lys576Arg) n.255A>G | |
| 17 | g.29530429A>T | CA398913650 | TAOK1 | c.2171A>T (p.Lys724Met) c.1727A>T (p.Lys576Met) n.255A>T | |
| 17 | g.29530431_29530433del | CA2825002480 | TAOK1 | c.2173_2175del (p.Gln725del) c.1729_1731del (p.Gln577del) n.257_259del | ClinVar |
| 17 | g.29530430G>A | CA8474810 | TAOK1 | c.2172G>A (p.Lys724=) c.1728G>A (p.Lys576=) n.256G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29530430G>C | CA398913654 | TAOK1 | c.2172G>C (p.Lys724Asn) c.1728G>C (p.Lys576Asn) n.256G>C | |
| 17 | g.29530430G= | CA2254806445 | TAOK1 | c.2172G= (p.Lys724=) c.1728G= (p.Lys576=) n.256G= | |
| 17 | g.29530430G>T | CA398913657 | TAOK1 | c.2172G>T (p.Lys724Asn) c.1728G>T (p.Lys576Asn) n.256G>T | |
| 17 | g.29530431C>A | CA398913662 | TAOK1 | c.2173C>A (p.Gln725Lys) c.1729C>A (p.Gln577Lys) n.257C>A | |
| 17 | g.29530431C>G | CA398913666 | TAOK1 | c.2173C>G (p.Gln725Glu) c.1729C>G (p.Gln577Glu) n.257C>G | |
| 17 | g.29530431C>T | CA398913669 | TAOK1 | c.2173C>T (p.Gln725Ter) c.1729C>T (p.Gln577Ter) n.257C>T | |
| 17 | g.29530432A>C | CA398913676 | TAOK1 | c.2174A>C (p.Gln725Pro) c.1730A>C (p.Gln577Pro) n.258A>C | |
| 17 | g.29530432A>G | CA398913680 | TAOK1 | c.2174A>G (p.Gln725Arg) c.1730A>G (p.Gln577Arg) n.258A>G | |
| 17 | g.29530432A>T | CA398913673 | TAOK1 | c.2174A>T (p.Gln725Leu) c.1730A>T (p.Gln577Leu) n.258A>T | |
| 17 | g.29530433G>A | CA499151655 | TAOK1 | c.2175G>A (p.Gln725=) c.1731G>A (p.Gln577=) n.259G>A | |
| 17 | g.29530433G>C | CA398913683 | TAOK1 | c.2175G>C (p.Gln725His) c.1731G>C (p.Gln577His) n.259G>C | |
| 17 | g.29530433G>T | CA398913686 | TAOK1 | c.2175G>T (p.Gln725His) c.1731G>T (p.Gln577His) n.259G>T | |
| 17 | g.29530434T>A | CA398913690 | TAOK1 | c.2176T>A (p.Phe726Ile) c.1732T>A (p.Phe578Ile) n.260T>A | |
| 17 | g.29530434T>C | CA398913693 | TAOK1 | c.2176T>C (p.Phe726Leu) c.1732T>C (p.Phe578Leu) n.260T>C | |
| 17 | g.29530434T>G | CA398913696 | TAOK1 | c.2176T>G (p.Phe726Val) c.1732T>G (p.Phe578Val) n.260T>G | |
| 17 | g.29530435T>A | CA398913701 | TAOK1 | c.2177T>A (p.Phe726Tyr) c.1733T>A (p.Phe578Tyr) n.261T>A | |
| 17 | g.29530435T>C | CA398913704 | TAOK1 | c.2177T>C (p.Phe726Ser) c.1733T>C (p.Phe578Ser) n.261T>C | |
| 17 | g.29530435T>G | CA398913706 | TAOK1 | c.2177T>G (p.Phe726Cys) c.1733T>G (p.Phe578Cys) n.261T>G | |
| 17 | g.29530436T>A | CA398913712 | TAOK1 | c.2178T>A (p.Phe726Leu) c.1734T>A (p.Phe578Leu) n.262T>A | |
| 17 | g.29530436T>C | CA499151656 | TAOK1 | c.2178T>C (p.Phe726=) c.1734T>C (p.Phe578=) n.262T>C | |
| 17 | g.29530436T>G | CA398913715 | TAOK1 | c.2178T>G (p.Phe726Leu) c.1734T>G (p.Phe578Leu) n.262T>G | |
| 17 | g.29530437C>A | CA398913719 | TAOK1 | c.2179C>A (p.Gln727Lys) c.1735C>A (p.Gln579Lys) n.263C>A | |
| 17 | g.29530437C>G | CA398913723 | TAOK1 | c.2179C>G (p.Gln727Glu) c.1735C>G (p.Gln579Glu) n.263C>G | |
| 17 | g.29530437C>T | CA398913726 | TAOK1 | c.2179C>T (p.Gln727Ter) c.1735C>T (p.Gln579Ter) n.263C>T | ClinVar dbSNP |
| 17 | g.29530438A>C | CA398913738 | TAOK1 | c.2180A>C (p.Gln727Pro) c.1736A>C (p.Gln579Pro) n.264A>C | |
| 17 | g.29530438A>G | CA398913734 | TAOK1 | c.2180A>G (p.Gln727Arg) c.1736A>G (p.Gln579Arg) n.264A>G | |
| 17 | g.29530438A>T | CA398913730 | TAOK1 | c.2180A>T (p.Gln727Leu) c.1736A>T (p.Gln579Leu) n.264A>T | |
| 17 | g.29530439G>A | CA499151657 | TAOK1 | c.2181G>A (p.Gln727=) c.1737G>A (p.Gln579=) n.265G>A | |
| 17 | g.29530439G>C | CA398913741 | TAOK1 | c.2181G>C (p.Gln727His) c.1737G>C (p.Gln579His) n.265G>C | |
| 17 | g.29530439G>T | CA398913744 | TAOK1 | c.2181G>T (p.Gln727His) c.1737G>T (p.Gln579His) n.265G>T | |
| 17 | g.29530440G>A | CA398913748 | TAOK1 | c.2182G>A (p.Asp728Asn) c.1738G>A (p.Asp580Asn) n.266G>A | |
| 17 | g.29530440G>C | CA398913751 | TAOK1 | c.2182G>C (p.Asp728His) c.1738G>C (p.Asp580His) n.266G>C | |
| 17 | g.29530440G>T | CA398913754 | TAOK1 | c.2182G>T (p.Asp728Tyr) c.1738G>T (p.Asp580Tyr) n.266G>T | |
| 17 | g.29530441A>C | CA398913756 | TAOK1 | c.2183A>C (p.Asp728Ala) c.1739A>C (p.Asp580Ala) n.267A>C | |
| 17 | g.29530441A>G | CA398913758 | TAOK1 | c.2183A>G (p.Asp728Gly) c.1739A>G (p.Asp580Gly) n.267A>G | |
| 17 | g.29530441A>T | CA398913761 | TAOK1 | c.2183A>T (p.Asp728Val) c.1739A>T (p.Asp580Val) n.267A>T | |
| 17 | g.29530442T>A | CA398913763 | TAOK1 | c.2184T>A (p.Asp728Glu) c.1740T>A (p.Asp580Glu) n.268T>A | |
| 17 | g.29530442T>C | CA499151658 | TAOK1 | c.2184T>C (p.Asp728=) c.1740T>C (p.Asp580=) n.268T>C | |
| 17 | g.29530442T>G | CA398913765 | TAOK1 | c.2184T>G (p.Asp728Glu) c.1740T>G (p.Asp580Glu) n.268T>G | |
| 17 | g.29530443A= | CA2254806446 | TAOK1 | c.2185A= (p.Thr729=) c.1741A= (p.Thr581=) n.269A= | |
| 17 | g.29530443A>C | CA398913768 | TAOK1 | c.2185A>C (p.Thr729Pro) c.1741A>C (p.Thr581Pro) n.269A>C | |
| 17 | g.29530443A>G | CA398913770 | TAOK1 | c.2185A>G (p.Thr729Ala) c.1741A>G (p.Thr581Ala) n.269A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29530443A>T | CA398913772 | TAOK1 | c.2185A>T (p.Thr729Ser) c.1741A>T (p.Thr581Ser) n.269A>T | |
| 17 | g.29530444C>A | CA398913779 | TAOK1 | c.2186C>A (p.Thr729Asn) c.1742C>A (p.Thr581Asn) n.270C>A | |
| 17 | g.29530444C>G | CA398913777 | TAOK1 | c.2186C>G (p.Thr729Ser) c.1742C>G (p.Thr581Ser) n.270C>G | |
| 17 | g.29530444C>T | CA398913775 | TAOK1 | c.2186C>T (p.Thr729Ile) c.1742C>T (p.Thr581Ile) n.270C>T | |
| 17 | g.29530445C>A | CA499151659 | TAOK1 | c.2187C>A (p.Thr729=) c.1743C>A (p.Thr581=) n.271C>A | |
| 17 | g.29530445C>G | CA499151660 | TAOK1 | c.2187C>G (p.Thr729=) c.1743C>G (p.Thr581=) n.271C>G | |
| 17 | g.29530445C>T | CA499151661 | TAOK1 | c.2187C>T (p.Thr729=) c.1743C>T (p.Thr581=) n.271C>T | gnomAD v4 |
| 17 | g.29530446T>A | CA398913780 | TAOK1 | c.2188T>A (p.Cys730Ser) c.1744T>A (p.Cys582Ser) n.272T>A | |
| 17 | g.29530446T>C | CA398913783 | TAOK1 | c.2188T>C (p.Cys730Arg) c.1744T>C (p.Cys582Arg) n.272T>C | |
| 17 | g.29530446T>G | CA398913782 | TAOK1 | c.2188T>G (p.Cys730Gly) c.1744T>G (p.Cys582Gly) n.272T>G | |
| 17 | g.29530447G>A | CA398913785 | TAOK1 | c.2189G>A (p.Cys730Tyr) c.1745G>A (p.Cys582Tyr) n.273G>A | |
| 17 | g.29530447G>C | CA398913788 | TAOK1 | c.2189G>C (p.Cys730Ser) c.1745G>C (p.Cys582Ser) n.273G>C | |
| 17 | g.29530447G>T | CA398913787 | TAOK1 | c.2189G>T (p.Cys730Phe) c.1745G>T (p.Cys582Phe) n.273G>T | |
| 17 | g.29530448C>A | CA398913790 | TAOK1 | c.2190C>A (p.Cys730Ter) c.1746C>A (p.Cys582Ter) n.274C>A | |
| 17 | g.29530448C>G | CA398913791 | TAOK1 | c.2190C>G (p.Cys730Trp) c.1746C>G (p.Cys582Trp) n.274C>G | |
| 17 | g.29530448C>T | CA499151662 | TAOK1 | c.2190C>T (p.Cys730=) c.1746C>T (p.Cys582=) n.274C>T | |
| 17 | g.29530449A>C | CA398913794 | TAOK1 | c.2191A>C (p.Lys731Gln) c.1747A>C (p.Lys583Gln) n.275A>C | |
| 17 | g.29530449A>G | CA398913795 | TAOK1 | c.2191A>G (p.Lys731Glu) c.1747A>G (p.Lys583Glu) n.275A>G | gnomAD v4 |
| 17 | g.29530449A>T | CA398913796 | TAOK1 | c.2191A>T (p.Lys731Ter) c.1747A>T (p.Lys583Ter) n.275A>T | |
| 17 | g.29530450A>C | CA398913798 | TAOK1 | c.2192A>C (p.Lys731Thr) c.1748A>C (p.Lys583Thr) n.276A>C | |
| 17 | g.29530450A>G | CA398913800 | TAOK1 | c.2192A>G (p.Lys731Arg) c.1748A>G (p.Lys583Arg) n.276A>G | |
| 17 | g.29530450A>T | CA398913802 | TAOK1 | c.2192A>T (p.Lys731Ile) c.1748A>T (p.Lys583Ile) n.276A>T | |
| 17 | g.29530451A>C | CA398913804 | TAOK1 | c.2193A>C (p.Lys731Asn) c.1749A>C (p.Lys583Asn) n.277A>C | |
| 17 | g.29530451A>G | CA499151663 | TAOK1 | c.2193A>G (p.Lys731=) c.1749A>G (p.Lys583=) n.277A>G | |
| 17 | g.29530451A>T | CA398913806 | TAOK1 | c.2193A>T (p.Lys731Asn) c.1749A>T (p.Lys583Asn) n.277A>T | |
| 17 | g.29530452A= | CA2254806447 | TAOK1 | c.2194A= (p.Ile732=) c.1750A= (p.Ile584=) n.278A= | |
| 17 | g.29530452A>C | CA398913808 | TAOK1 | c.2194A>C (p.Ile732Leu) c.1750A>C (p.Ile584Leu) n.278A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29530452A>G | CA398913810 | TAOK1 | c.2194A>G (p.Ile732Val) c.1750A>G (p.Ile584Val) n.278A>G | |
| 17 | g.29530452A>T | CA398913812 | TAOK1 | c.2194A>T (p.Ile732Phe) c.1750A>T (p.Ile584Phe) n.278A>T | |
| 17 | g.29530453T>A | CA398913814 | TAOK1 | c.2195T>A (p.Ile732Asn) c.1751T>A (p.Ile584Asn) n.279T>A | |
| 17 | g.29530453T>C | CA398913818 | TAOK1 | c.2195T>C (p.Ile732Thr) c.1751T>C (p.Ile584Thr) n.279T>C | |
| 17 | g.29530453T>G | CA398913816 | TAOK1 | c.2195T>G (p.Ile732Ser) c.1751T>G (p.Ile584Ser) n.279T>G | |
| 17 | g.29530454C>A | CA499151664 | TAOK1 | c.2196C>A (p.Ile732=) c.1752C>A (p.Ile584=) n.280C>A | |
| 17 | g.29530454C= | CA2254806448 | TAOK1 | c.2196C= (p.Ile732=) c.1752C= (p.Ile584=) n.280C= | |
| 17 | g.29530454C>G | CA398913819 | TAOK1 | c.2196C>G (p.Ile732Met) c.1752C>G (p.Ile584Met) n.280C>G | |
| 17 | g.29530454C>T | CA289198984 | TAOK1 | c.2196C>T (p.Ile732=) c.1752C>T (p.Ile584=) n.280C>T | dbSNP gnomAD v4 |
| 17 | g.29530455C>A | CA398913821 | TAOK1 | c.2197C>A (p.Gln733Lys) c.1753C>A (p.Gln585Lys) n.281C>A | |
| 17 | g.29530455C>G | CA398913822 | TAOK1 | c.2197C>G (p.Gln733Glu) c.1753C>G (p.Gln585Glu) n.281C>G | |
| 17 | g.29530455C>T | CA398913825 | TAOK1 | c.2197C>T (p.Gln733Ter) c.1753C>T (p.Gln585Ter) n.281C>T | |
| 17 | g.29530456A= | CA2254806449 | TAOK1 | c.2198A= (p.Gln733=) c.1754A= (p.Gln585=) n.282A= | |
| 17 | g.29530456A>C | CA398913826 | TAOK1 | c.2198A>C (p.Gln733Pro) c.1754A>C (p.Gln585Pro) n.282A>C | |
| 17 | g.29530456A>G | CA398913828 | TAOK1 | c.2198A>G (p.Gln733Arg) c.1754A>G (p.Gln585Arg) n.282A>G | |
| 17 | g.29530456A>T | CA398913830 | TAOK1 | c.2198A>T (p.Gln733Leu) c.1754A>T (p.Gln585Leu) n.282A>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29530457A>C | CA398913832 | TAOK1 | c.2199A>C (p.Gln733His) c.1755A>C (p.Gln585His) n.283A>C | |
| 17 | g.29530457A>G | CA499151665 | TAOK1 | c.2199A>G (p.Gln733=) c.1755A>G (p.Gln585=) n.283A>G | |
| 17 | g.29530457A>T | CA398913834 | TAOK1 | c.2199A>T (p.Gln733His) c.1755A>T (p.Gln585His) n.283A>T | |
| 17 | g.29530458A= | CA2254806450 | TAOK1 | c.2200A= (p.Thr734=) c.1756A= (p.Thr586=) n.284A= | |
| 17 | g.29530458A>C | CA398913844 | TAOK1 | c.2200A>C (p.Thr734Pro) c.1756A>C (p.Thr586Pro) n.284A>C | dbSNP |
| 17 | g.29530458A>G | CA398913841 | TAOK1 | c.2200A>G (p.Thr734Ala) c.1756A>G (p.Thr586Ala) n.284A>G | |
| 17 | g.29530458A>T | CA398913838 | TAOK1 | c.2200A>T (p.Thr734Ser) c.1756A>T (p.Thr586Ser) n.284A>T | |
| 17 | g.29530459C>A | CA398913848 | TAOK1 | c.2201C>A (p.Thr734Asn) c.1757C>A (p.Thr586Asn) n.285C>A | |
| 17 | g.29530459C>G | CA398913850 | TAOK1 | c.2201C>G (p.Thr734Ser) c.1757C>G (p.Thr586Ser) n.285C>G | |
| 17 | g.29530459C>T | CA398913852 | TAOK1 | c.2201C>T (p.Thr734Ile) c.1757C>T (p.Thr586Ile) n.285C>T | |
| 17 | g.29530460C>A | CA499151666 | TAOK1 | c.2202C>A (p.Thr734=) c.1758C>A (p.Thr586=) n.286C>A | |
| 17 | g.29530460C= | CA2254806451 | TAOK1 | c.2202C= (p.Thr734=) c.1758C= (p.Thr586=) n.286C= | |
| 17 | g.29530460C>G | CA499151667 | TAOK1 | c.2202C>G (p.Thr734=) c.1758C>G (p.Thr586=) n.286C>G | |
| 17 | g.29530460C>T | CA499151668 | TAOK1 | c.2202C>T (p.Thr734=) c.1758C>T (p.Thr586=) n.286C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29530461del | CA2573054360 | TAOK1 | c.2203del (p.Arg735AspfsTer6) c.1759del (p.Arg587AspfsTer6) n.287del | ClinVar dbSNP |
| 17 | g.29530461A>C | CA499151669 | TAOK1 | c.2203A>C (p.Arg735=) c.1759A>C (p.Arg587=) n.287A>C | |
| 17 | g.29530461A>G | CA398914725 | TAOK1 | c.2203A>G (p.Arg735Gly) c.1759A>G (p.Arg587Gly) n.287A>G | |
| 17 | g.29530461A>T | CA398914728 | TAOK1 | c.2203A>T (p.Arg735Ter) c.1759A>T (p.Arg587Ter) n.287A>T | |
| 17 | g.29530462_29530463del | CA2809142371 | TAOK1 | c.2204_2205del (p.Arg735ThrfsTer17) c.1760_1761del (p.Arg587ThrfsTer17) n.288_289del | |
| 17 | g.29530462G>A | CA398914730 | TAOK1 | c.2204G>A (p.Arg735Lys) c.1760G>A (p.Arg587Lys) n.288G>A | |
| 17 | g.29530462G>C | CA398914732 | TAOK1 | c.2204G>C (p.Arg735Thr) c.1760G>C (p.Arg587Thr) n.288G>C | |
| 17 | g.29530462G>T | CA398914735 | TAOK1 | c.2204G>T (p.Arg735Ile) c.1760G>T (p.Arg587Ile) n.288G>T | |
| 17 | g.29530463A>C | CA398914737 | TAOK1 | c.2205A>C (p.Arg735Ser) c.1761A>C (p.Arg587Ser) n.289A>C | |
| 17 | g.29530463A>G | CA499151670 | TAOK1 | c.2205A>G (p.Arg735=) c.1761A>G (p.Arg587=) n.289A>G | gnomAD v4 |
| 17 | g.29530463A>T | CA398914739 | TAOK1 | c.2205A>T (p.Arg735Ser) c.1761A>T (p.Arg587Ser) n.289A>T | |
| 17 | g.29530464C>A | CA398914741 | TAOK1 | c.2206C>A (p.Gln736Lys) c.1762C>A (p.Gln588Lys) n.290C>A | |
| 17 | g.29530464C>G | CA398914743 | TAOK1 | c.2206C>G (p.Gln736Glu) c.1762C>G (p.Gln588Glu) n.290C>G | |
| 17 | g.29530464C>T | CA398914745 | TAOK1 | c.2206C>T (p.Gln736Ter) c.1762C>T (p.Gln588Ter) n.290C>T | |
| 17 | g.29530465A>C | CA398914752 | TAOK1 | c.2207A>C (p.Gln736Pro) c.1763A>C (p.Gln588Pro) n.291A>C | |
| 17 | g.29530465A>G | CA398914748 | TAOK1 | c.2207A>G (p.Gln736Arg) c.1763A>G (p.Gln588Arg) n.291A>G | |
| 17 | g.29530465A>T | CA398914750 | TAOK1 | c.2207A>T (p.Gln736Leu) c.1763A>T (p.Gln588Leu) n.291A>T | |
| 17 | g.29530466G>A | CA8474811 | TAOK1 | c.2208G>A (p.Gln736=) c.1764G>A (p.Gln588=) n.292G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29530466G>C | CA398914755 | TAOK1 | c.2208G>C (p.Gln736His) c.1764G>C (p.Gln588His) n.292G>C | |
| 17 | g.29530466G= | CA2254806452 | TAOK1 | c.2208G= (p.Gln736=) c.1764G= (p.Gln588=) n.292G= | |
| 17 | g.29530466G>T | CA398914758 | TAOK1 | c.2208G>T (p.Gln736His) c.1764G>T (p.Gln588His) n.292G>T | |
| 17 | g.29530467T>A | CA398914760 | TAOK1 | c.2209T>A (p.Tyr737Asn) c.1765T>A (p.Tyr589Asn) n.293T>A | |
| 17 | g.29530467T>C | CA398914762 | TAOK1 | c.2209T>C (p.Tyr737His) c.1765T>C (p.Tyr589His) n.293T>C | |
| 17 | g.29530467T>G | CA398914764 | TAOK1 | c.2209T>G (p.Tyr737Asp) c.1765T>G (p.Tyr589Asp) n.293T>G | |
| 17 | g.29530468A>C | CA398914766 | TAOK1 | c.2210A>C (p.Tyr737Ser) c.1766A>C (p.Tyr589Ser) n.294A>C | |
| 17 | g.29530468A>G | CA398914768 | TAOK1 | c.2210A>G (p.Tyr737Cys) c.1766A>G (p.Tyr589Cys) n.294A>G | |
| 17 | g.29530468A>T | CA398914770 | TAOK1 | c.2210A>T (p.Tyr737Phe) c.1766A>T (p.Tyr589Phe) n.294A>T | |
| 17 | g.29530469C>A | CA398914773 | TAOK1 | c.2211C>A (p.Tyr737Ter) c.1767C>A (p.Tyr589Ter) n.295C>A | |
| 17 | g.29530469C>G | CA398914775 | TAOK1 | c.2211C>G (p.Tyr737Ter) c.1767C>G (p.Tyr589Ter) n.295C>G | |
| 17 | g.29530469C>T | CA499151671 | TAOK1 | c.2211C>T (p.Tyr737=) c.1767C>T (p.Tyr589=) n.295C>T | |
| 17 | g.29530470A= | CA2254806453 | TAOK1 | c.2212A= (p.Lys738=) c.1768A= (p.Lys590=) n.296A= | |
| 17 | g.29530470A>C | CA398914781 | TAOK1 | c.2212A>C (p.Lys738Gln) c.1768A>C (p.Lys590Gln) n.296A>C | |
| 17 | g.29530470A>G | CA398914779 | TAOK1 | c.2212A>G (p.Lys738Glu) c.1768A>G (p.Lys590Glu) n.296A>G | dbSNP |
| 17 | g.29530470A>T | CA398914778 | TAOK1 | c.2212A>T (p.Lys738Ter) c.1768A>T (p.Lys590Ter) n.296A>T | |
| 17 | g.29530471A>C | CA398914784 | TAOK1 | c.2213A>C (p.Lys738Thr) c.1769A>C (p.Lys590Thr) n.297A>C | |
| 17 | g.29530471A>G | CA398914787 | TAOK1 | c.2213A>G (p.Lys738Arg) c.1769A>G (p.Lys590Arg) n.297A>G | COSMIC |
| 17 | g.29530471A>T | CA398914785 | TAOK1 | c.2213A>T (p.Lys738Ile) c.1769A>T (p.Lys590Ile) n.297A>T | |
| 17 | g.29530472A>C | CA398914789 | TAOK1 | c.2214A>C (p.Lys738Asn) c.1770A>C (p.Lys590Asn) n.298A>C | gnomAD v4 |
| 17 | g.29530472A>G | CA499151672 | TAOK1 | c.2214A>G (p.Lys738=) c.1770A>G (p.Lys590=) n.298A>G | gnomAD v4 |
| 17 | g.29530472A>T | CA398914790 | TAOK1 | c.2214A>T (p.Lys738Asn) c.1770A>T (p.Lys590Asn) n.298A>T | |
| 17 | g.29530473G>A | CA398914793 | TAOK1 | c.2215G>A (p.Ala739Thr) c.1771G>A (p.Ala591Thr) n.299G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29530473G>C | CA398914794 | TAOK1 | c.2215G>C (p.Ala739Pro) c.1771G>C (p.Ala591Pro) n.299G>C | |
| 17 | g.29530473G= | CA2254806454 | TAOK1 | c.2215G= (p.Ala739=) c.1771G= (p.Ala591=) n.299G= | |
| 17 | g.29530473G>T | CA398914796 | TAOK1 | c.2215G>T (p.Ala739Ser) c.1771G>T (p.Ala591Ser) n.299G>T | |
| 17 | g.29530474C>A | CA398914799 | TAOK1 | c.2216C>A (p.Ala739Glu) c.1772C>A (p.Ala591Glu) n.300C>A | |
| 17 | g.29530474C>G | CA398914801 | TAOK1 | c.2216C>G (p.Ala739Gly) c.1772C>G (p.Ala591Gly) n.300C>G | |
| 17 | g.29530474C>T | CA398914804 | TAOK1 | c.2216C>T (p.Ala739Val) c.1772C>T (p.Ala591Val) n.300C>T | |
| 17 | g.29530475A= | CA2254806455 | TAOK1 | c.2217A= (p.Ala739=) c.1773A= (p.Ala591=) n.301A= | |
| 17 | g.29530475A>C | CA499151673 | TAOK1 | c.2217A>C (p.Ala739=) c.1773A>C (p.Ala591=) n.301A>C | |
| 17 | g.29530475A>G | CA499151674 | TAOK1 | c.2217A>G (p.Ala739=) c.1773A>G (p.Ala591=) n.301A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29530475A>T | CA499151675 | TAOK1 | c.2217A>T (p.Ala739=) c.1773A>T (p.Ala591=) n.301A>T | |
| 17 | g.29530476T>A | CA398914807 | TAOK1 | c.2218T>A (p.Leu740Ile) c.1774T>A (p.Leu592Ile) n.302T>A | |
| 17 | g.29530476T>C | CA499151676 | TAOK1 | c.2218T>C (p.Leu740=) c.1774T>C (p.Leu592=) n.302T>C | |
| 17 | g.29530476T>G | CA398914808 | TAOK1 | c.2218T>G (p.Leu740Val) c.1774T>G (p.Leu592Val) n.302T>G | |
| 17 | g.29530477T>A | CA398914815 | TAOK1 | c.2219T>A (p.Leu740Ter) c.1775T>A (p.Leu592Ter) n.303T>A | |
| 17 | g.29530477T>C | CA398914813 | TAOK1 | c.2219T>C (p.Leu740Ser) c.1775T>C (p.Leu592Ser) n.303T>C | |
| 17 | g.29530477T>G | CA398914812 | TAOK1 | c.2219T>G (p.Leu740Ter) c.1775T>G (p.Leu592Ter) n.303T>G | |
| 17 | g.29530478A= | CA2254806456 | TAOK1 | c.2220A= (p.Leu740=) c.1776A= (p.Leu592=) n.304A= | |
| 17 | g.29530478A>C | CA398914817 | TAOK1 | c.2220A>C (p.Leu740Phe) c.1776A>C (p.Leu592Phe) n.304A>C | |
| 17 | g.29530478A>G | CA499151677 | TAOK1 | c.2220A>G (p.Leu740=) c.1776A>G (p.Leu592=) n.304A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29530478A>T | CA398914819 | TAOK1 | c.2220A>T (p.Leu740Phe) c.1776A>T (p.Leu592Phe) n.304A>T | |
| 17 | g.29530479A>C | CA499151678 | TAOK1 | c.2221A>C (p.Arg741=) c.1777A>C (p.Arg593=) n.305A>C | |
| 17 | g.29530479A>G | CA398914821 | TAOK1 | c.2221A>G (p.Arg741Gly) c.1777A>G (p.Arg593Gly) n.305A>G | |
| 17 | g.29530479A>T | CA398914822 | TAOK1 | c.2221A>T (p.Arg741Ter) c.1777A>T (p.Arg593Ter) n.305A>T | |
| 17 | g.29530480G>A | CA398914825 | TAOK1 | c.2222G>A (p.Arg741Lys) c.1778G>A (p.Arg593Lys) n.306G>A | |
| 17 | g.29530480G>C | CA398914827 | TAOK1 | c.2222G>C (p.Arg741Thr) c.1778G>C (p.Arg593Thr) n.306G>C | |
| 17 | g.29530480G>T | CA398914828 | TAOK1 | c.2222G>T (p.Arg741Ile) c.1778G>T (p.Arg593Ile) n.306G>T | |
| 17 | g.29530481A>C | CA398914831 | TAOK1 | c.2223A>C (p.Arg741Ser) c.1779A>C (p.Arg593Ser) n.307A>C | |
| 17 | g.29530481A>G | CA499151679 | TAOK1 | c.2223A>G (p.Arg741=) c.1779A>G (p.Arg593=) n.307A>G | |
| 17 | g.29530481A>T | CA398914832 | TAOK1 | c.2223A>T (p.Arg741Ser) c.1779A>T (p.Arg593Ser) n.307A>T | |
| 17 | g.29530481_29530492del | CA2636955282 | TAOK1 | c.2223_2234del (p.Asn742_Leu745del) c.1779_1790del (p.Asn594_Leu597del) n.307_318del | gnomAD v4 |
| 17 | g.29530482A>C | CA398914835 | TAOK1 | c.2224A>C (p.Asn742His) c.1780A>C (p.Asn594His) n.308A>C | |
| 17 | g.29530482A>G | CA398914837 | TAOK1 | c.2224A>G (p.Asn742Asp) c.1780A>G (p.Asn594Asp) n.308A>G | |
| 17 | g.29530482A>T | CA398914839 | TAOK1 | c.2224A>T (p.Asn742Tyr) c.1780A>T (p.Asn594Tyr) n.308A>T | |
| 17 | g.29530483A>C | CA398914843 | TAOK1 | c.2225A>C (p.Asn742Thr) c.1781A>C (p.Asn594Thr) n.309A>C | |
| 17 | g.29530483A>G | CA398914844 | TAOK1 | c.2225A>G (p.Asn742Ser) c.1781A>G (p.Asn594Ser) n.309A>G | |
| 17 | g.29530483A>T | CA398914842 | TAOK1 | c.2225A>T (p.Asn742Ile) c.1781A>T (p.Asn594Ile) n.309A>T | |
| 17 | g.29530484T>A | CA398914846 | TAOK1 | c.2226T>A (p.Asn742Lys) c.1782T>A (p.Asn594Lys) n.310T>A | |
| 17 | g.29530484T>C | CA499151680 | TAOK1 | c.2226T>C (p.Asn742=) c.1782T>C (p.Asn594=) n.310T>C | gnomAD v4 |
| 17 | g.29530484T>G | CA398914848 | TAOK1 | c.2226T>G (p.Asn742Lys) c.1782T>G (p.Asn594Lys) n.310T>G | |
| 17 | g.29530485C>A | CA398914850 | TAOK1 | c.2227C>A (p.His743Asn) c.1783C>A (p.His595Asn) n.311C>A | |
| 17 | g.29530485C>G | CA398914852 | TAOK1 | c.2227C>G (p.His743Asp) c.1783C>G (p.His595Asp) n.311C>G | |
| 17 | g.29530485C>T | CA398914854 | TAOK1 | c.2227C>T (p.His743Tyr) c.1783C>T (p.His595Tyr) n.311C>T | gnomAD v4 |
| 17 | g.29530486A>C | CA398914856 | TAOK1 | c.2228A>C (p.His743Pro) c.1784A>C (p.His595Pro) n.312A>C | |
| 17 | g.29530486A>G | CA398914858 | TAOK1 | c.2228A>G (p.His743Arg) c.1784A>G (p.His595Arg) n.312A>G | |
| 17 | g.29530486A>T | CA398914860 | TAOK1 | c.2228A>T (p.His743Leu) c.1784A>T (p.His595Leu) n.312A>T | |
| 17 | g.29530487C>A | CA398914863 | TAOK1 | c.2229C>A (p.His743Gln) c.1785C>A (p.His595Gln) n.313C>A | |
| 17 | g.29530487C>G | CA398914864 | TAOK1 | c.2229C>G (p.His743Gln) c.1785C>G (p.His595Gln) n.313C>G | |
| 17 | g.29530487C>T | CA499151681 | TAOK1 | c.2229C>T (p.His743=) c.1785C>T (p.His595=) n.313C>T | |
| 17 | g.29530488C>A | CA398914867 | TAOK1 | c.2230C>A (p.Leu744Met) c.1786C>A (p.Leu596Met) n.314C>A | |
| 17 | g.29530488C= | CA2254806457 | TAOK1 | c.2230C= (p.Leu744=) c.1786C= (p.Leu596=) n.314C= | |
| 17 | g.29530488C>G | CA398914869 | TAOK1 | c.2230C>G (p.Leu744Val) c.1786C>G (p.Leu596Val) n.314C>G | |
| 17 | g.29530488C>T | CA8474812 | TAOK1 | c.2230C>T (p.Leu744=) c.1786C>T (p.Leu596=) n.314C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29530489T>A | CA398914876 | TAOK1 | c.2231T>A (p.Leu744Gln) c.1787T>A (p.Leu596Gln) n.315T>A | |
| 17 | g.29530489T>C | CA398914874 | TAOK1 | c.2231T>C (p.Leu744Pro) c.1787T>C (p.Leu596Pro) n.315T>C | |
| 17 | g.29530489T>G | CA398914872 | TAOK1 | c.2231T>G (p.Leu744Arg) c.1787T>G (p.Leu596Arg) n.315T>G | |
| 17 | g.29530490G>A | CA499151682 | TAOK1 | c.2232G>A (p.Leu744=) c.1788G>A (p.Leu596=) n.316G>A | dbSNP |
| 17 | g.29530490G>C | CA499151683 | TAOK1 | c.2232G>C (p.Leu744=) c.1788G>C (p.Leu596=) n.316G>C | |
| 17 | g.29530490G= | CA2254806458 | TAOK1 | c.2232G= (p.Leu744=) c.1788G= (p.Leu596=) n.316G= | |
| 17 | g.29530490G>T | CA499151684 | TAOK1 | c.2232G>T (p.Leu744=) c.1788G>T (p.Leu596=) n.316G>T | |
| 17 | g.29530491C>A | CA398914877 | TAOK1 | c.2233C>A (p.Leu745Met) c.1789C>A (p.Leu597Met) n.317C>A | |
| 17 | g.29530491C= | CA2254806459 | TAOK1 | c.2233C= (p.Leu745=) c.1789C= (p.Leu597=) n.317C= | |
| 17 | g.29530491C>G | CA398914878 | TAOK1 | c.2233C>G (p.Leu745Val) c.1789C>G (p.Leu597Val) n.317C>G | |
| 17 | g.29530491C>T | CA499151685 | TAOK1 | c.2233C>T (p.Leu745=) c.1789C>T (p.Leu597=) n.317C>T | dbSNP |
| 17 | g.29530492T>A | CA398914881 | TAOK1 | c.2234T>A (p.Leu745Gln) c.1790T>A (p.Leu597Gln) n.318T>A | |
| 17 | g.29530492T>C | CA398914883 | TAOK1 | c.2234T>C (p.Leu745Pro) c.1790T>C (p.Leu597Pro) n.318T>C | |
| 17 | g.29530492T>G | CA398914884 | TAOK1 | c.2234T>G (p.Leu745Arg) c.1790T>G (p.Leu597Arg) n.318T>G | |
| 17 | g.29530493G>A | CA499151686 | TAOK1 | c.2235G>A (p.Leu745=) c.1791G>A (p.Leu597=) n.319G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29530493G>C | CA499151687 | TAOK1 | c.2235G>C (p.Leu745=) c.1791G>C (p.Leu597=) n.319G>C | |
| 17 | g.29530493G= | CA2254806460 | TAOK1 | c.2235G= (p.Leu745=) c.1791G= (p.Leu597=) n.319G= | |
| 17 | g.29530493G>T | CA499151688 | TAOK1 | c.2235G>T (p.Leu745=) c.1791G>T (p.Leu597=) n.319G>T | |
| 17 | g.29530494G>A | CA398914887 | TAOK1 | c.2236G>A (p.Glu746Lys) c.1792G>A (p.Glu598Lys) n.320G>A | |
| 17 | g.29530494G>C | CA398914889 | TAOK1 | c.2236G>C (p.Glu746Gln) c.1792G>C (p.Glu598Gln) n.320G>C | |
| 17 | g.29530494G>T | CA398914891 | TAOK1 | c.2236G>T (p.Glu746Ter) c.1792G>T (p.Glu598Ter) n.320G>T | |
| 17 | g.29530495A>C | CA398914893 | TAOK1 | c.2237A>C (p.Glu746Ala) c.1793A>C (p.Glu598Ala) n.321A>C | |
| 17 | g.29530495A>G | CA398914895 | TAOK1 | c.2237A>G (p.Glu746Gly) c.1793A>G (p.Glu598Gly) n.321A>G | |
| 17 | g.29530495A>T | CA398914898 | TAOK1 | c.2237A>T (p.Glu746Val) c.1793A>T (p.Glu598Val) n.321A>T | |
| 17 | g.29530496G>A | CA499151689 | TAOK1 | c.2238G>A (p.Glu746=) c.1794G>A (p.Glu598=) n.322G>A | |
| 17 | g.29530496G>C | CA398914900 | TAOK1 | c.2238G>C (p.Glu746Asp) c.1794G>C (p.Glu598Asp) n.322G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29530496G= | CA2254806461 | TAOK1 | c.2238G= (p.Glu746=) c.1794G= (p.Glu598=) n.322G= | |
| 17 | g.29530496G>T | CA398914902 | TAOK1 | c.2238G>T (p.Glu746Asp) c.1794G>T (p.Glu598Asp) n.322G>T | |
| 17 | g.29530497A>C | CA398914905 | TAOK1 | c.2239A>C (p.Thr747Pro) c.1795A>C (p.Thr599Pro) n.323A>C | |
| 17 | g.29530497A>G | CA398914909 | TAOK1 | c.2239A>G (p.Thr747Ala) c.1795A>G (p.Thr599Ala) n.323A>G | |
| 17 | g.29530497A>T | CA398914907 | TAOK1 | c.2239A>T (p.Thr747Ser) c.1795A>T (p.Thr599Ser) n.323A>T | gnomAD v4 |
| 17 | g.29530498C>A | CA398914910 | TAOK1 | c.2240C>A (p.Thr747Asn) c.1796C>A (p.Thr599Asn) n.324C>A | |
| 17 | g.29530498C>G | CA398914914 | TAOK1 | c.2240C>G (p.Thr747Ser) c.1796C>G (p.Thr599Ser) n.324C>G | |
| 17 | g.29530498C>T | CA398914912 | TAOK1 | c.2240C>T (p.Thr747Ile) c.1796C>T (p.Thr599Ile) n.324C>T | |
| 17 | g.29530499T>A | CA499151690 | TAOK1 | c.2241T>A (p.Thr747=) c.1797T>A (p.Thr599=) n.325T>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29530499T>C | CA499151691 | TAOK1 | c.2241T>C (p.Thr747=) c.1797T>C (p.Thr599=) n.325T>C | gnomAD v4 |
| 17 | g.29530499T>G | CA499151692 | TAOK1 | c.2241T>G (p.Thr747=) c.1797T>G (p.Thr599=) n.325T>G | gnomAD v4 |
| 17 | g.29530499T= | CA2254806462 | TAOK1 | c.2241T= (p.Thr747=) c.1797T= (p.Thr599=) n.325T= | |
| 17 | g.29530500A>C | CA398914915 | TAOK1 | c.2242A>C (p.Thr748Pro) c.1798A>C (p.Thr600Pro) n.326A>C | |
| 17 | g.29530500A>G | CA398914916 | TAOK1 | c.2242A>G (p.Thr748Ala) c.1798A>G (p.Thr600Ala) n.326A>G | |
| 17 | g.29530500A>T | CA398914918 | TAOK1 | c.2242A>T (p.Thr748Ser) c.1798A>T (p.Thr600Ser) n.326A>T | gnomAD v4 |
| 17 | g.29530501C>A | CA398914919 | TAOK1 | c.2243C>A (p.Thr748Lys) c.1799C>A (p.Thr600Lys) n.327C>A | |
| 17 | g.29530501C>G | CA398914921 | TAOK1 | c.2243C>G (p.Thr748Arg) c.1799C>G (p.Thr600Arg) n.327C>G | |
| 17 | g.29530501C>T | CA398914922 | TAOK1 | c.2243C>T (p.Thr748Ile) c.1799C>T (p.Thr600Ile) n.327C>T | |
| 17 | g.29530502A= | CA2254806463 | TAOK1 | c.2244A= (p.Thr748=) c.1800A= (p.Thr600=) n.328A= | |
| 17 | g.29530502A>C | CA499151693 | TAOK1 | c.2244A>C (p.Thr748=) c.1800A>C (p.Thr600=) n.328A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29530502A>G | CA499151694 | TAOK1 | c.2244A>G (p.Thr748=) c.1800A>G (p.Thr600=) n.328A>G | |
| 17 | g.29530502A>T | CA499151695 | TAOK1 | c.2244A>T (p.Thr748=) c.1800A>T (p.Thr600=) n.328A>T | |
| 17 | g.29530503C>A | CA398914928 | TAOK1 | c.2245C>A (p.Pro749Thr) c.1801C>A (p.Pro601Thr) n.329C>A | |
| 17 | g.29530503C>G | CA398914926 | TAOK1 | c.2245C>G (p.Pro749Ala) c.1801C>G (p.Pro601Ala) n.329C>G | |
| 17 | g.29530503C>T | CA398914924 | TAOK1 | c.2245C>T (p.Pro749Ser) c.1801C>T (p.Pro601Ser) n.329C>T | |
| 17 | g.29530504C>A | CA398914931 | TAOK1 | c.2246C>A (p.Pro749Gln) c.1802C>A (p.Pro601Gln) n.330C>A | |
| 17 | g.29530504C= | CA2254806464 | TAOK1 | c.2246C= (p.Pro749=) c.1802C= (p.Pro601=) n.330C= | |
| 17 | g.29530504C>G | CA398914932 | TAOK1 | c.2246C>G (p.Pro749Arg) c.1802C>G (p.Pro601Arg) n.330C>G | dbSNP |
| 17 | g.29530504C>T | CA398914935 | TAOK1 | c.2246C>T (p.Pro749Leu) c.1802C>T (p.Pro601Leu) n.330C>T | |
| 17 | g.29530505A= | CA2254806465 | TAOK1 | c.2247A= (p.Pro749=) c.1803A= (p.Pro601=) n.331A= | |
| 17 | g.29530505A>C | CA499151697 | TAOK1 | c.2247A>C (p.Pro749=) c.1803A>C (p.Pro601=) n.331A>C | |
| 17 | g.29530505A>G | CA499151698 | TAOK1 | c.2247A>G (p.Pro749=) c.1803A>G (p.Pro601=) n.331A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29530505A>T | CA499151696 | TAOK1 | c.2247A>T (p.Pro749=) c.1803A>T (p.Pro601=) n.331A>T | |
| 17 | g.29530506A>C | CA398914938 | TAOK1 | c.2248A>C (p.Lys750Gln) c.1804A>C (p.Lys602Gln) n.332A>C | |
| 17 | g.29530506A>G | CA398914939 | TAOK1 | c.2248A>G (p.Lys750Glu) c.1804A>G (p.Lys602Glu) n.332A>G | |
| 17 | g.29530506A>T | CA398914941 | TAOK1 | c.2248A>T (p.Lys750Ter) c.1804A>T (p.Lys602Ter) n.332A>T | |
| 17 | g.29530507A>C | CA398914947 | TAOK1 | c.2249A>C (p.Lys750Thr) c.1805A>C (p.Lys602Thr) n.333A>C | |
| 17 | g.29530507A>G | CA398914943 | TAOK1 | c.2249A>G (p.Lys750Arg) c.1805A>G (p.Lys602Arg) n.333A>G | |
| 17 | g.29530507A>T | CA398914945 | TAOK1 | c.2249A>T (p.Lys750Met) c.1805A>T (p.Lys602Met) n.333A>T | |
| 17 | g.29530508G>A | CA499151699 | TAOK1 | c.2250G>A (p.Lys750=) c.1806G>A (p.Lys602=) n.334G>A | |
| 17 | g.29530508G>C | CA398914949 | TAOK1 | c.2250G>C (p.Lys750Asn) c.1806G>C (p.Lys602Asn) n.334G>C | |
| 17 | g.29530508G>T | CA398914951 | TAOK1 | c.2250G>T (p.Lys750Asn) c.1806G>T (p.Lys602Asn) n.334G>T | |
| 17 | g.29530511_29530514del | CA2573054361 | TAOK1 | c.2253_2256del (p.Glu752ThrfsTer5) c.1809_1812del (p.Glu604ThrfsTer5) n.337_340del | ClinVar dbSNP |
| 17 | g.29530509A>C | CA398914954 | TAOK1 | c.2251A>C (p.Ser751Arg) c.1807A>C (p.Ser603Arg) n.335A>C | |
| 17 | g.29530509A>G | CA398914956 | TAOK1 | c.2251A>G (p.Ser751Gly) c.1807A>G (p.Ser603Gly) n.335A>G | |
| 17 | g.29530509A>T | CA398914958 | TAOK1 | c.2251A>T (p.Ser751Cys) c.1807A>T (p.Ser603Cys) n.335A>T | |
| 17 | g.29530510G>A | CA398914960 | TAOK1 | c.2252G>A (p.Ser751Asn) c.1808G>A (p.Ser603Asn) n.336G>A | |
| 17 | g.29530510G>C | CA398914962 | TAOK1 | c.2252G>C (p.Ser751Thr) c.1808G>C (p.Ser603Thr) n.336G>C | |
| 17 | g.29530510G>T | CA398914964 | TAOK1 | c.2252G>T (p.Ser751Ile) c.1808G>T (p.Ser603Ile) n.336G>T |