Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29534177G>A | CA8474857 | TAOK1 | c.2421G>A (p.Gln807=) c.1977G>A (p.Gln659=) | dbSNP ExAC gnomAD v4 |
17 | g.29534177G>C | CA398917186 | TAOK1 | c.2421G>C (p.Gln807His) c.1977G>C (p.Gln659His) | |
17 | g.29534177G= | CA2254807151 | TAOK1 | c.2421G= (p.Gln807=) c.1977G= (p.Gln659=) | |
17 | g.29534177G>T | CA398917187 | TAOK1 | c.2421G>T (p.Gln807His) c.1977G>T (p.Gln659His) | gnomAD v4 |
17 | g.29534178G>A | CA398917188 | TAOK1 | c.2422G>A (p.Glu808Lys) c.1978G>A (p.Glu660Lys) | COSMIC |
17 | g.29534178G>C | CA398917189 | TAOK1 | c.2422G>C (p.Glu808Gln) c.1978G>C (p.Glu660Gln) | |
17 | g.29534178G>T | CA398917190 | TAOK1 | c.2422G>T (p.Glu808Ter) c.1978G>T (p.Glu660Ter) | |
17 | g.29534179A>C | CA398917193 | TAOK1 | c.2423A>C (p.Glu808Ala) c.1979A>C (p.Glu660Ala) | |
17 | g.29534179A>G | CA398917192 | TAOK1 | c.2423A>G (p.Glu808Gly) c.1979A>G (p.Glu660Gly) | |
17 | g.29534179A>T | CA398917191 | TAOK1 | c.2423A>T (p.Glu808Val) c.1979A>T (p.Glu660Val) | |
17 | g.29534180A>C | CA398917194 | TAOK1 | c.2424A>C (p.Glu808Asp) c.1980A>C (p.Glu660Asp) | |
17 | g.29534180A>G | CA499152368 | TAOK1 | c.2424A>G (p.Glu808=) c.1980A>G (p.Glu660=) | |
17 | g.29534180A>T | CA398917195 | TAOK1 | c.2424A>T (p.Glu808Asp) c.1980A>T (p.Glu660Asp) | |
17 | g.29534181C>A | CA398917196 | TAOK1 | c.2425C>A (p.Leu809Met) c.1981C>A (p.Leu661Met) | |
17 | g.29534181C= | CA2254807154 | TAOK1 | c.2425C= (p.Leu809=) c.1981C= (p.Leu661=) | |
17 | g.29534181C>G | CA398917197 | TAOK1 | c.2425C>G (p.Leu809Val) c.1981C>G (p.Leu661Val) | |
17 | g.29534181C>T | CA499152369 | TAOK1 | c.2425C>T (p.Leu809=) c.1981C>T (p.Leu661=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534182T>A | CA398917198 | TAOK1 | c.2426T>A (p.Leu809Gln) c.1982T>A (p.Leu661Gln) | |
17 | g.29534182T>C | CA398917199 | TAOK1 | c.2426T>C (p.Leu809Pro) c.1982T>C (p.Leu661Pro) | |
17 | g.29534182T>G | CA398917200 | TAOK1 | c.2426T>G (p.Leu809Arg) c.1982T>G (p.Leu661Arg) | |
17 | g.29534183G>A | CA499152375 | TAOK1 | c.2427G>A (p.Leu809=) c.1983G>A (p.Leu661=) | |
17 | g.29534183G>C | CA499152374 | TAOK1 | c.2427G>C (p.Leu809=) c.1983G>C (p.Leu661=) | |
17 | g.29534183G>T | CA499152373 | TAOK1 | c.2427G>T (p.Leu809=) c.1983G>T (p.Leu661=) | |
17 | g.29534184G>A | CA398917201 | TAOK1 | c.2428G>A (p.Glu810Lys) c.1984G>A (p.Glu662Lys) | gnomAD v4 |
17 | g.29534184G>C | CA398917202 | TAOK1 | c.2428G>C (p.Glu810Gln) c.1984G>C (p.Glu662Gln) | |
17 | g.29534184G>T | CA398917203 | TAOK1 | c.2428G>T (p.Glu810Ter) c.1984G>T (p.Glu662Ter) | |
17 | g.29534185A>C | CA398917204 | TAOK1 | c.2429A>C (p.Glu810Ala) c.1985A>C (p.Glu662Ala) | |
17 | g.29534185A>G | CA398917205 | TAOK1 | c.2429A>G (p.Glu810Gly) c.1985A>G (p.Glu662Gly) | |
17 | g.29534185A>T | CA398917206 | TAOK1 | c.2429A>T (p.Glu810Val) c.1985A>T (p.Glu662Val) | |
17 | g.29534186G>A | CA499152378 | TAOK1 | c.2430G>A (p.Glu810=) c.1986G>A (p.Glu662=) | |
17 | g.29534186G>C | CA398917208 | TAOK1 | c.2430G>C (p.Glu810Asp) c.1986G>C (p.Glu662Asp) | |
17 | g.29534186G>T | CA398917207 | TAOK1 | c.2430G>T (p.Glu810Asp) c.1986G>T (p.Glu662Asp) | |
17 | g.29534187C>A | CA398917209 | TAOK1 | c.2431C>A (p.Leu811Met) c.1987C>A (p.Leu663Met) | |
17 | g.29534187C= | CA2254807157 | TAOK1 | c.2431C= (p.Leu811=) c.1987C= (p.Leu663=) | |
17 | g.29534187C>G | CA398917210 | TAOK1 | c.2431C>G (p.Leu811Val) c.1987C>G (p.Leu663Val) | ClinVar |
17 | g.29534187C>T | CA8474858 | TAOK1 | c.2431C>T (p.Leu811=) c.1987C>T (p.Leu663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534188T>A | CA398917211 | TAOK1 | c.2432T>A (p.Leu811Gln) c.1988T>A (p.Leu663Gln) | |
17 | g.29534188T>C | CA398917212 | TAOK1 | c.2432T>C (p.Leu811Pro) c.1988T>C (p.Leu663Pro) | |
17 | g.29534188T>G | CA398917213 | TAOK1 | c.2432T>G (p.Leu811Arg) c.1988T>G (p.Leu663Arg) | |
17 | g.29534189G>A | CA499152379 | TAOK1 | c.2433G>A (p.Leu811=) c.1989G>A (p.Leu663=) | |
17 | g.29534189G>C | CA499152381 | TAOK1 | c.2433G>C (p.Leu811=) c.1989G>C (p.Leu663=) | |
17 | g.29534189G>T | CA499152382 | TAOK1 | c.2433G>T (p.Leu811=) c.1989G>T (p.Leu663=) | |
17 | g.29534190T>A | CA398917214 | TAOK1 | c.2434T>A (p.Leu812Met) c.1990T>A (p.Leu664Met) | |
17 | g.29534190T>C | CA499152384 | TAOK1 | c.2434T>C (p.Leu812=) c.1990T>C (p.Leu664=) | gnomAD v4 |
17 | g.29534190T>G | CA398917215 | TAOK1 | c.2434T>G (p.Leu812Val) c.1990T>G (p.Leu664Val) | |
17 | g.29534191T>A | CA398917216 | TAOK1 | c.2435T>A (p.Leu812Ter) c.1991T>A (p.Leu664Ter) | |
17 | g.29534191T>C | CA398917217 | TAOK1 | c.2435T>C (p.Leu812Ser) c.1991T>C (p.Leu664Ser) | |
17 | g.29534191T>G | CA398917218 | TAOK1 | c.2435T>G (p.Leu812Trp) c.1991T>G (p.Leu664Trp) | |
17 | g.29534192G>A | CA499152386 | TAOK1 | c.2436G>A (p.Leu812=) c.1992G>A (p.Leu664=) | dbSNP |
17 | g.29534192G>C | CA398917219 | TAOK1 | c.2436G>C (p.Leu812Phe) c.1992G>C (p.Leu664Phe) | |
17 | g.29534192G= | CA2254807160 | TAOK1 | c.2436G= (p.Leu812=) c.1992G= (p.Leu664=) | |
17 | g.29534192G>T | CA398917220 | TAOK1 | c.2436G>T (p.Leu812Phe) c.1992G>T (p.Leu664Phe) | |
17 | g.29534193A>C | CA398917221 | TAOK1 | c.2437A>C (p.Asn813His) c.1993A>C (p.Asn665His) | |
17 | g.29534193A>G | CA398917222 | TAOK1 | c.2437A>G (p.Asn813Asp) c.1993A>G (p.Asn665Asp) | |
17 | g.29534193A>T | CA398917223 | TAOK1 | c.2437A>T (p.Asn813Tyr) c.1993A>T (p.Asn665Tyr) | |
17 | g.29534194A>C | CA398917224 | TAOK1 | c.2438A>C (p.Asn813Thr) c.1994A>C (p.Asn665Thr) | |
17 | g.29534194A>G | CA398917226 | TAOK1 | c.2438A>G (p.Asn813Ser) c.1994A>G (p.Asn665Ser) | |
17 | g.29534194A>T | CA398917225 | TAOK1 | c.2438A>T (p.Asn813Ile) c.1994A>T (p.Asn665Ile) | |
17 | g.29534195T>A | CA398917227 | TAOK1 | c.2439T>A (p.Asn813Lys) c.1995T>A (p.Asn665Lys) | |
17 | g.29534195T>C | CA8474859 | TAOK1 | c.2439T>C (p.Asn813=) c.1995T>C (p.Asn665=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534195T>G | CA398917228 | TAOK1 | c.2439T>G (p.Asn813Lys) c.1995T>G (p.Asn665Lys) | |
17 | g.29534195T= | CA2254807164 | TAOK1 | c.2439T= (p.Asn813=) c.1995T= (p.Asn665=) | |
17 | g.29534196G>A | CA398917229 | TAOK1 | c.2440G>A (p.Ala814Thr) c.1996G>A (p.Ala666Thr) | |
17 | g.29534196G>C | CA398917230 | TAOK1 | c.2440G>C (p.Ala814Pro) c.1996G>C (p.Ala666Pro) | |
17 | g.29534196G>T | CA398917231 | TAOK1 | c.2440G>T (p.Ala814Ser) c.1996G>T (p.Ala666Ser) | |
17 | g.29534197C>A | CA398917232 | TAOK1 | c.2441C>A (p.Ala814Glu) c.1997C>A (p.Ala666Glu) | |
17 | g.29534197C= | CA2254807168 | TAOK1 | c.2441C= (p.Ala814=) c.1997C= (p.Ala666=) | |
17 | g.29534197C>G | CA398917233 | TAOK1 | c.2441C>G (p.Ala814Gly) c.1997C>G (p.Ala666Gly) | |
17 | g.29534197C>T | CA8474860 | TAOK1 | c.2441C>T (p.Ala814Val) c.1997C>T (p.Ala666Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29534198del | CA2695225193 | TAOK1 | c.2442del (p.Tyr815IlefsTer?) c.1998del (p.Tyr667IlefsTer?) | |
17 | g.29534198G>A | CA8474861 | TAOK1 | c.2442G>A (p.Ala814=) c.1998G>A (p.Ala666=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534198G>C | CA499152391 | TAOK1 | c.2442G>C (p.Ala814=) c.1998G>C (p.Ala666=) | |
17 | g.29534198G= | CA2254807173 | TAOK1 | c.2442G= (p.Ala814=) c.1998G= (p.Ala666=) | |
17 | g.29534198G>T | CA499152392 | TAOK1 | c.2442G>T (p.Ala814=) c.1998G>T (p.Ala666=) | |
17 | g.29534199T>A | CA398917235 | TAOK1 | c.2443T>A (p.Tyr815Asn) c.1999T>A (p.Tyr667Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534199T>C | CA398917236 | TAOK1 | c.2443T>C (p.Tyr815His) c.1999T>C (p.Tyr667His) | |
17 | g.29534199T>G | CA398917234 | TAOK1 | c.2443T>G (p.Tyr815Asp) c.1999T>G (p.Tyr667Asp) | |
17 | g.29534199T= | CA2254807176 | TAOK1 | c.2443T= (p.Tyr815=) c.1999T= (p.Tyr667=) | |
17 | g.29534200A>C | CA398917237 | TAOK1 | c.2444A>C (p.Tyr815Ser) c.2000A>C (p.Tyr667Ser) | |
17 | g.29534200A>G | CA398917238 | TAOK1 | c.2444A>G (p.Tyr815Cys) c.2000A>G (p.Tyr667Cys) | |
17 | g.29534200A>T | CA398917239 | TAOK1 | c.2444A>T (p.Tyr815Phe) c.2000A>T (p.Tyr667Phe) | |
17 | g.29534201T>A | CA398917240 | TAOK1 | c.2445T>A (p.Tyr815Ter) c.2001T>A (p.Tyr667Ter) | |
17 | g.29534201T>C | CA499152395 | TAOK1 | c.2445T>C (p.Tyr815=) c.2001T>C (p.Tyr667=) | |
17 | g.29534201T>G | CA398917241 | TAOK1 | c.2445T>G (p.Tyr815Ter) c.2001T>G (p.Tyr667Ter) | |
17 | g.29534202C>A | CA398917242 | TAOK1 | c.2446C>A (p.Gln816Lys) c.2002C>A (p.Gln668Lys) | |
17 | g.29534202C>G | CA398917243 | TAOK1 | c.2446C>G (p.Gln816Glu) c.2002C>G (p.Gln668Glu) | |
17 | g.29534202C>T | CA398917244 | TAOK1 | c.2446C>T (p.Gln816Ter) c.2002C>T (p.Gln668Ter) | |
17 | g.29534203A>C | CA398917245 | TAOK1 | c.2447A>C (p.Gln816Pro) c.2003A>C (p.Gln668Pro) | |
17 | g.29534203A>G | CA398917246 | TAOK1 | c.2447A>G (p.Gln816Arg) c.2003A>G (p.Gln668Arg) | |
17 | g.29534203A>T | CA398917247 | TAOK1 | c.2447A>T (p.Gln816Leu) c.2003A>T (p.Gln668Leu) | |
17 | g.29534204G>A | CA499152397 | TAOK1 | c.2448G>A (p.Gln816=) c.2004G>A (p.Gln668=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29534204G>C | CA398917248 | TAOK1 | c.2448G>C (p.Gln816His) c.2004G>C (p.Gln668His) | |
17 | g.29534204G= | CA2254807178 | TAOK1 | c.2448G= (p.Gln816=) c.2004G= (p.Gln668=) | |
17 | g.29534204G>T | CA398917249 | TAOK1 | c.2448G>T (p.Gln816His) c.2004G>T (p.Gln668His) | |
17 | g.29534205A>C | CA398917252 | TAOK1 | c.2449A>C (p.Ser817Arg) c.2005A>C (p.Ser669Arg) | |
17 | g.29534205A>G | CA398917251 | TAOK1 | c.2449A>G (p.Ser817Gly) c.2005A>G (p.Ser669Gly) | gnomAD v4 |
17 | g.29534205A>T | CA398917250 | TAOK1 | c.2449A>T (p.Ser817Cys) c.2005A>T (p.Ser669Cys) | |
17 | g.29534206G>A | CA398917253 | TAOK1 | c.2450G>A (p.Ser817Asn) c.2006G>A (p.Ser669Asn) | |
17 | g.29534206G>C | CA398917254 | TAOK1 | c.2450G>C (p.Ser817Thr) c.2006G>C (p.Ser669Thr) | |
17 | g.29534206G>T | CA398917255 | TAOK1 | c.2450G>T (p.Ser817Ile) c.2006G>T (p.Ser669Ile) | |
17 | g.29534207C>A | CA398917256 | TAOK1 | c.2451C>A (p.Ser817Arg) c.2007C>A (p.Ser669Arg) | |
17 | g.29534207C>G | CA398917257 | TAOK1 | c.2451C>G (p.Ser817Arg) c.2007C>G (p.Ser669Arg) | |
17 | g.29534207C>T | CA499152402 | TAOK1 | c.2451C>T (p.Ser817=) c.2007C>T (p.Ser669=) | |
17 | g.29534208A>C | CA398917258 | TAOK1 | c.2452A>C (p.Lys818Gln) c.2008A>C (p.Lys670Gln) | gnomAD v4 |
17 | g.29534208A>G | CA398917259 | TAOK1 | c.2452A>G (p.Lys818Glu) c.2008A>G (p.Lys670Glu) | |
17 | g.29534208A>T | CA398917260 | TAOK1 | c.2452A>T (p.Lys818Ter) c.2008A>T (p.Lys670Ter) | |
17 | g.29534209A>C | CA398917261 | TAOK1 | c.2453A>C (p.Lys818Thr) c.2009A>C (p.Lys670Thr) | |
17 | g.29534209A>G | CA398917262 | TAOK1 | c.2453A>G (p.Lys818Arg) c.2009A>G (p.Lys670Arg) | |
17 | g.29534209A>T | CA398917263 | TAOK1 | c.2453A>T (p.Lys818Ile) c.2009A>T (p.Lys670Ile) | |
17 | g.29534210A>C | CA398917264 | TAOK1 | c.2454A>C (p.Lys818Asn) c.2010A>C (p.Lys670Asn) | |
17 | g.29534210A>G | CA499152404 | TAOK1 | c.2454A>G (p.Lys818=) c.2010A>G (p.Lys670=) | gnomAD v4 |
17 | g.29534210A>T | CA398917265 | TAOK1 | c.2454A>T (p.Lys818Asn) c.2010A>T (p.Lys670Asn) | |
17 | g.29534211A>C | CA398917268 | TAOK1 | c.2455A>C (p.Ile819Leu) c.2011A>C (p.Ile671Leu) | |
17 | g.29534211A>G | CA398917267 | TAOK1 | c.2455A>G (p.Ile819Val) c.2011A>G (p.Ile671Val) | |
17 | g.29534211A>T | CA398917266 | TAOK1 | c.2455A>T (p.Ile819Phe) c.2011A>T (p.Ile671Phe) | |
17 | g.29534212T>A | CA398917269 | TAOK1 | c.2456T>A (p.Ile819Asn) c.2012T>A (p.Ile671Asn) | |
17 | g.29534212T>C | CA398917271 | TAOK1 | c.2456T>C (p.Ile819Thr) c.2012T>C (p.Ile671Thr) | |
17 | g.29534212T>G | CA398917270 | TAOK1 | c.2456T>G (p.Ile819Ser) c.2012T>G (p.Ile671Ser) | |
17 | g.29534213C>A | CA499152408 | TAOK1 | c.2457C>A (p.Ile819=) c.2013C>A (p.Ile671=) | |
17 | g.29534213C>G | CA398917272 | TAOK1 | c.2457C>G (p.Ile819Met) c.2013C>G (p.Ile671Met) | COSMIC |
17 | g.29534213C>T | CA499152410 | TAOK1 | c.2457C>T (p.Ile819=) c.2013C>T (p.Ile671=) | |
17 | g.29534214A>C | CA398917274 | TAOK1 | c.2458A>C (p.Lys820Gln) c.2014A>C (p.Lys672Gln) | |
17 | g.29534214A>G | CA398917273 | TAOK1 | c.2458A>G (p.Lys820Glu) c.2014A>G (p.Lys672Glu) | |
17 | g.29534214A>T | CA398917275 | TAOK1 | c.2458A>T (p.Lys820Ter) c.2014A>T (p.Lys672Ter) | |
17 | g.29534215A>C | CA398917276 | TAOK1 | c.2459A>C (p.Lys820Thr) c.2015A>C (p.Lys672Thr) | |
17 | g.29534215A>G | CA398917277 | TAOK1 | c.2459A>G (p.Lys820Arg) c.2015A>G (p.Lys672Arg) | |
17 | g.29534215A>T | CA398917278 | TAOK1 | c.2459A>T (p.Lys820Met) c.2015A>T (p.Lys672Met) | |
17 | g.29534216G>A | CA499152414 | TAOK1 | c.2460G>A (p.Lys820=) c.2016G>A (p.Lys672=) | |
17 | g.29534216G>C | CA398917279 | TAOK1 | c.2460G>C (p.Lys820Asn) c.2016G>C (p.Lys672Asn) | |
17 | g.29534216G>T | CA398917280 | TAOK1 | c.2460G>T (p.Lys820Asn) c.2016G>T (p.Lys672Asn) | |
17 | g.29534217A= | CA2254807181 | TAOK1 | c.2461A= (p.Met821=) c.2017A= (p.Met673=) | |
17 | g.29534217A>C | CA398917281 | TAOK1 | c.2461A>C (p.Met821Leu) c.2017A>C (p.Met673Leu) | |
17 | g.29534217A>G | CA8474862 | TAOK1 | c.2461A>G (p.Met821Val) c.2017A>G (p.Met673Val) | dbSNP ExAC gnomAD v2 |
17 | g.29534217A>T | CA398917282 | TAOK1 | c.2461A>T (p.Met821Leu) c.2017A>T (p.Met673Leu) | gnomAD v4 |
17 | g.29534218T>A | CA398917283 | TAOK1 | c.2462T>A (p.Met821Lys) c.2018T>A (p.Met673Lys) | |
17 | g.29534218T>C | CA398917284 | TAOK1 | c.2462T>C (p.Met821Thr) c.2018T>C (p.Met673Thr) | gnomAD v4 |
17 | g.29534218T>G | CA398917285 | TAOK1 | c.2462T>G (p.Met821Arg) c.2018T>G (p.Met673Arg) | |
17 | g.29534219G>A | CA398917288 | TAOK1 | c.2463G>A (p.Met821Ile) c.2019G>A (p.Met673Ile) | dbSNP |
17 | g.29534219G>C | CA398917286 | TAOK1 | c.2463G>C (p.Met821Ile) c.2019G>C (p.Met673Ile) | |
17 | g.29534219G= | CA2254807185 | TAOK1 | c.2463G= (p.Met821=) c.2019G= (p.Met673=) | |
17 | g.29534219G>T | CA398917287 | TAOK1 | c.2463G>T (p.Met821Ile) c.2019G>T (p.Met673Ile) | |
17 | g.29534220C>A | CA398917289 | TAOK1 | c.2464C>A (p.Gln822Lys) c.2020C>A (p.Gln674Lys) | |
17 | g.29534220C>G | CA398917290 | TAOK1 | c.2464C>G (p.Gln822Glu) c.2020C>G (p.Gln674Glu) | |
17 | g.29534220C>T | CA398917291 | TAOK1 | c.2464C>T (p.Gln822Ter) c.2020C>T (p.Gln674Ter) | |
17 | g.29534221A>C | CA398917292 | TAOK1 | c.2465A>C (p.Gln822Pro) c.2021A>C (p.Gln674Pro) | |
17 | g.29534221A>G | CA398917293 | TAOK1 | c.2465A>G (p.Gln822Arg) c.2021A>G (p.Gln674Arg) | |
17 | g.29534221A>T | CA398917294 | TAOK1 | c.2465A>T (p.Gln822Leu) c.2021A>T (p.Gln674Leu) | |
17 | g.29534222A= | CA2254807187 | TAOK1 | c.2466A= (p.Gln822=) c.2022A= (p.Gln674=) | |
17 | g.29534222A>C | CA398917295 | TAOK1 | c.2466A>C (p.Gln822His) c.2022A>C (p.Gln674His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534222A>G | CA499152420 | TAOK1 | c.2466A>G (p.Gln822=) c.2022A>G (p.Gln674=) | gnomAD v4 |
17 | g.29534222A>T | CA398917296 | TAOK1 | c.2466A>T (p.Gln822His) c.2022A>T (p.Gln674His) | gnomAD v4 |
17 | g.29534223G>A | CA398917297 | TAOK1 | c.2467G>A (p.Ala823Thr) c.2023G>A (p.Ala675Thr) | |
17 | g.29534223G>C | CA398917298 | TAOK1 | c.2467G>C (p.Ala823Pro) c.2023G>C (p.Ala675Pro) | |
17 | g.29534223G= | CA2254807189 | TAOK1 | c.2467G= (p.Ala823=) c.2023G= (p.Ala675=) | |
17 | g.29534223G>T | CA8474863 | TAOK1 | c.2467G>T (p.Ala823Ser) c.2023G>T (p.Ala675Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534224C>A | CA398917300 | TAOK1 | c.2468C>A (p.Ala823Asp) c.2024C>A (p.Ala675Asp) | |
17 | g.29534224C>G | CA398917301 | TAOK1 | c.2468C>G (p.Ala823Gly) c.2024C>G (p.Ala675Gly) | |
17 | g.29534224C>T | CA398917299 | TAOK1 | c.2468C>T (p.Ala823Val) c.2024C>T (p.Ala675Val) | |
17 | g.29534225T>A | CA499152422 | TAOK1 | c.2469T>A (p.Ala823=) c.2025T>A (p.Ala675=) | |
17 | g.29534225T>C | CA499152424 | TAOK1 | c.2469T>C (p.Ala823=) c.2025T>C (p.Ala675=) | |
17 | g.29534225T>G | CA499152423 | TAOK1 | c.2469T>G (p.Ala823=) c.2025T>G (p.Ala675=) | |
17 | g.29534226G>A | CA398917302 | TAOK1 | c.2470G>A (p.Glu824Lys) c.2026G>A (p.Glu676Lys) | |
17 | g.29534226G>C | CA398917303 | TAOK1 | c.2470G>C (p.Glu824Gln) c.2026G>C (p.Glu676Gln) | |
17 | g.29534226G>T | CA398917304 | TAOK1 | c.2470G>T (p.Glu824Ter) c.2026G>T (p.Glu676Ter) | |
17 | g.29534227A>C | CA398917305 | TAOK1 | c.2471A>C (p.Glu824Ala) c.2027A>C (p.Glu676Ala) | |
17 | g.29534227A>G | CA398917306 | TAOK1 | c.2471A>G (p.Glu824Gly) c.2027A>G (p.Glu676Gly) | |
17 | g.29534227A>T | CA398917307 | TAOK1 | c.2471A>T (p.Glu824Val) c.2027A>T (p.Glu676Val) | |
17 | g.29534228G>A | CA499152426 | TAOK1 | c.2472G>A (p.Glu824=) c.2028G>A (p.Glu676=) | |
17 | g.29534228G>C | CA398917308 | TAOK1 | c.2472G>C (p.Glu824Asp) c.2028G>C (p.Glu676Asp) | |
17 | g.29534228G>T | CA398917309 | TAOK1 | c.2472G>T (p.Glu824Asp) c.2028G>T (p.Glu676Asp) | |
17 | g.29534229G>A | CA398917310 | TAOK1 | c.2473G>A (p.Ala825Thr) c.2029G>A (p.Ala677Thr) | |
17 | g.29534229G>C | CA398917311 | TAOK1 | c.2473G>C (p.Ala825Pro) c.2029G>C (p.Ala677Pro) | |
17 | g.29534229G>T | CA398917312 | TAOK1 | c.2473G>T (p.Ala825Ser) c.2029G>T (p.Ala677Ser) | |
17 | g.29534230C>A | CA398917313 | TAOK1 | c.2474C>A (p.Ala825Glu) c.2030C>A (p.Ala677Glu) | |
17 | g.29534230C>G | CA398917314 | TAOK1 | c.2474C>G (p.Ala825Gly) c.2030C>G (p.Ala677Gly) | |
17 | g.29534230C>T | CA398917315 | TAOK1 | c.2474C>T (p.Ala825Val) c.2030C>T (p.Ala677Val) | dbSNP |
17 | g.29534232_29534236del | CA982841817 | TAOK1 | c.2476_2480del (p.Gln826Ter) c.2032_2036del (p.Gln678Ter) | gnomAD v3 gnomAD v4 |
17 | g.29534231A= | CA2254807193 | TAOK1 | c.2475A= (p.Ala825=) c.2031A= (p.Ala677=) | |
17 | g.29534231A>C | CA499152428 | TAOK1 | c.2475A>C (p.Ala825=) c.2031A>C (p.Ala677=) | |
17 | g.29534231A>G | CA8474864 | TAOK1 | c.2475A>G (p.Ala825=) c.2031A>G (p.Ala677=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534231A>T | CA499152429 | TAOK1 | c.2475A>T (p.Ala825=) c.2031A>T (p.Ala677=) | |
17 | g.29534232C>A | CA398917316 | TAOK1 | c.2476C>A (p.Gln826Lys) c.2032C>A (p.Gln678Lys) | |
17 | g.29534232C>G | CA398917317 | TAOK1 | c.2476C>G (p.Gln826Glu) c.2032C>G (p.Gln678Glu) | |
17 | g.29534232C>T | CA398917318 | TAOK1 | c.2476C>T (p.Gln826Ter) c.2032C>T (p.Gln678Ter) | |
17 | g.29534233A>C | CA398917319 | TAOK1 | c.2477A>C (p.Gln826Pro) c.2033A>C (p.Gln678Pro) | |
17 | g.29534233A>G | CA398917320 | TAOK1 | c.2477A>G (p.Gln826Arg) c.2033A>G (p.Gln678Arg) | |
17 | g.29534233A>T | CA398917321 | TAOK1 | c.2477A>T (p.Gln826Leu) c.2033A>T (p.Gln678Leu) | |
17 | g.29534234A= | CA2254807196 | TAOK1 | c.2478A= (p.Gln826=) c.2034A= (p.Gln678=) | |
17 | g.29534234A>C | CA398917322 | TAOK1 | c.2478A>C (p.Gln826His) c.2034A>C (p.Gln678His) | |
17 | g.29534234A>G | CA499152431 | TAOK1 | c.2478A>G (p.Gln826=) c.2034A>G (p.Gln678=) | dbSNP gnomAD v2 |
17 | g.29534234A>T | CA8474865 | TAOK1 | c.2478A>T (p.Gln826His) c.2034A>T (p.Gln678His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29534235C>A | CA398917323 | TAOK1 | c.2479C>A (p.His827Asn) c.2035C>A (p.His679Asn) | |
17 | g.29534235C>G | CA398917324 | TAOK1 | c.2479C>G (p.His827Asp) c.2035C>G (p.His679Asp) | |
17 | g.29534235C>T | CA398917325 | TAOK1 | c.2479C>T (p.His827Tyr) c.2035C>T (p.His679Tyr) | gnomAD v4 |
17 | g.29534236A>C | CA398917326 | TAOK1 | c.2480A>C (p.His827Pro) c.2036A>C (p.His679Pro) | gnomAD v4 |
17 | g.29534236A>G | CA398917327 | TAOK1 | c.2480A>G (p.His827Arg) c.2036A>G (p.His679Arg) | gnomAD v4 |
17 | g.29534236A>T | CA398917328 | TAOK1 | c.2480A>T (p.His827Leu) c.2036A>T (p.His679Leu) | |
17 | g.29534237T>A | CA398917329 | TAOK1 | c.2481T>A (p.His827Gln) c.2037T>A (p.His679Gln) | gnomAD v4 |
17 | g.29534237T>C | CA499152432 | TAOK1 | c.2481T>C (p.His827=) c.2037T>C (p.His679=) | |
17 | g.29534237T>G | CA398917330 | TAOK1 | c.2481T>G (p.His827Gln) c.2037T>G (p.His679Gln) | |
17 | g.29534238G>A | CA398917331 | TAOK1 | c.2482G>A (p.Asp828Asn) c.2038G>A (p.Asp680Asn) | |
17 | g.29534238G>C | CA398917333 | TAOK1 | c.2482G>C (p.Asp828His) c.2038G>C (p.Asp680His) | |
17 | g.29534238G>T | CA398917332 | TAOK1 | c.2482G>T (p.Asp828Tyr) c.2038G>T (p.Asp680Tyr) | |
17 | g.29534239A>C | CA398917334 | TAOK1 | c.2483A>C (p.Asp828Ala) c.2039A>C (p.Asp680Ala) | |
17 | g.29534239A>G | CA398917335 | TAOK1 | c.2483A>G (p.Asp828Gly) c.2039A>G (p.Asp680Gly) | |
17 | g.29534239A>T | CA398917336 | TAOK1 | c.2483A>T (p.Asp828Val) c.2039A>T (p.Asp680Val) | gnomAD v4 |
17 | g.29534240T>A | CA398917337 | TAOK1 | c.2484T>A (p.Asp828Glu) c.2040T>A (p.Asp680Glu) | |
17 | g.29534240T>C | CA8474866 | TAOK1 | c.2484T>C (p.Asp828=) c.2040T>C (p.Asp680=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534240T>G | CA398917338 | TAOK1 | c.2484T>G (p.Asp828Glu) c.2040T>G (p.Asp680Glu) | |
17 | g.29534240T= | CA2254807198 | TAOK1 | c.2484T= (p.Asp828=) c.2040T= (p.Asp680=) | |
17 | g.29534241C>A | CA499152434 | TAOK1 | c.2485C>A (p.Arg829=) c.2041C>A (p.Arg681=) | gnomAD v4 |
17 | g.29534241C= | CA2254807201 | TAOK1 | c.2485C= (p.Arg829=) c.2041C= (p.Arg681=) | |
17 | g.29534241C>G | CA398917339 | TAOK1 | c.2485C>G (p.Arg829Gly) c.2041C>G (p.Arg681Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29534241C>T | CA398917340 | TAOK1 | c.2485C>T (p.Arg829Ter) c.2041C>T (p.Arg681Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.29534242G>A | CA8474867 | TAOK1 | c.2486G>A (p.Arg829Gln) c.2042G>A (p.Arg681Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29534242G>C | CA398917341 | TAOK1 | c.2486G>C (p.Arg829Pro) c.2042G>C (p.Arg681Pro) | |
17 | g.29534242G= | CA2254807207 | TAOK1 | c.2486G= (p.Arg829=) c.2042G= (p.Arg681=) | |
17 | g.29534242G>T | CA398917342 | TAOK1 | c.2486G>T (p.Arg829Leu) c.2042G>T (p.Arg681Leu) | |
17 | g.29534243A>C | CA499152438 | TAOK1 | c.2487A>C (p.Arg829=) c.2043A>C (p.Arg681=) | |
17 | g.29534243A>G | CA499152439 | TAOK1 | c.2487A>G (p.Arg829=) c.2043A>G (p.Arg681=) | |
17 | g.29534243A>T | CA499152440 | TAOK1 | c.2487A>T (p.Arg829=) c.2043A>T (p.Arg681=) | |
17 | g.29534244G>A | CA398917345 | TAOK1 | c.2488G>A (p.Glu830Lys) c.2044G>A (p.Glu682Lys) | |
17 | g.29534244G>C | CA398917344 | TAOK1 | c.2488G>C (p.Glu830Gln) c.2044G>C (p.Glu682Gln) | |
17 | g.29534244G>T | CA398917343 | TAOK1 | c.2488G>T (p.Glu830Ter) c.2044G>T (p.Glu682Ter) | ClinVar dbSNP |
17 | g.29534245A>C | CA398917346 | TAOK1 | c.2489A>C (p.Glu830Ala) c.2045A>C (p.Glu682Ala) | |
17 | g.29534245A>G | CA398917347 | TAOK1 | c.2489A>G (p.Glu830Gly) c.2045A>G (p.Glu682Gly) | |
17 | g.29534245A>T | CA398917348 | TAOK1 | c.2489A>T (p.Glu830Val) c.2045A>T (p.Glu682Val) | |
17 | g.29534246G>A | CA8474868 | TAOK1 | c.2490G>A (p.Glu830=) c.2046G>A (p.Glu682=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534246G>C | CA398917349 | TAOK1 | c.2490G>C (p.Glu830Asp) c.2046G>C (p.Glu682Asp) | |
17 | g.29534246G= | CA2254807210 | TAOK1 | c.2490G= (p.Glu830=) c.2046G= (p.Glu682=) | |
17 | g.29534246G>T | CA398917350 | TAOK1 | c.2490G>T (p.Glu830Asp) c.2046G>T (p.Glu682Asp) | |
17 | g.29534247C>A | CA398917351 | TAOK1 | c.2491C>A (p.Leu831Ile) c.2047C>A (p.Leu683Ile) | |
17 | g.29534247C>G | CA398917352 | TAOK1 | c.2491C>G (p.Leu831Val) c.2047C>G (p.Leu683Val) | |
17 | g.29534247C>T | CA398917353 | TAOK1 | c.2491C>T (p.Leu831Phe) c.2047C>T (p.Leu683Phe) | |
17 | g.29534248T>A | CA398917354 | TAOK1 | c.2492T>A (p.Leu831His) c.2048T>A (p.Leu683His) | |
17 | g.29534248T>C | CA398917355 | TAOK1 | c.2492T>C (p.Leu831Pro) c.2048T>C (p.Leu683Pro) | |
17 | g.29534248T>G | CA398917356 | TAOK1 | c.2492T>G (p.Leu831Arg) c.2048T>G (p.Leu683Arg) | |
17 | g.29534249T>A | CA499152442 | TAOK1 | c.2493T>A (p.Leu831=) c.2049T>A (p.Leu683=) | |
17 | g.29534249T>C | CA499152443 | TAOK1 | c.2493T>C (p.Leu831=) c.2049T>C (p.Leu683=) | |
17 | g.29534249T>G | CA499152444 | TAOK1 | c.2493T>G (p.Leu831=) c.2049T>G (p.Leu683=) | |
17 | g.29534250C>A | CA398917358 | TAOK1 | c.2494C>A (p.Arg832Ser) c.2050C>A (p.Arg684Ser) | |
17 | g.29534250C= | CA2254807213 | TAOK1 | c.2494C= (p.Arg832=) c.2050C= (p.Arg684=) | |
17 | g.29534250C>G | CA398917357 | TAOK1 | c.2494C>G (p.Arg832Gly) c.2050C>G (p.Arg684Gly) | gnomAD v4 |
17 | g.29534250C>T | CA8474869 | TAOK1 | c.2494C>T (p.Arg832Cys) c.2050C>T (p.Arg684Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534251G>A | CA8474870 | TAOK1 | c.2495G>A (p.Arg832His) c.2051G>A (p.Arg684His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.29534251G>C | CA398917359 | TAOK1 | c.2495G>C (p.Arg832Pro) c.2051G>C (p.Arg684Pro) | |
17 | g.29534251G= | CA2254807216 | TAOK1 | c.2495G= (p.Arg832=) c.2051G= (p.Arg684=) | |
17 | g.29534251G>T | CA398917360 | TAOK1 | c.2495G>T (p.Arg832Leu) c.2051G>T (p.Arg684Leu) | |
17 | g.29534252C>A | CA499152449 | TAOK1 | c.2496C>A (p.Arg832=) c.2052C>A (p.Arg684=) | |
17 | g.29534252C= | CA2254807221 | TAOK1 | c.2496C= (p.Arg832=) c.2052C= (p.Arg684=) | |
17 | g.29534252C>G | CA499152450 | TAOK1 | c.2496C>G (p.Arg832=) c.2052C>G (p.Arg684=) | |
17 | g.29534252C>T | CA8474871 | TAOK1 | c.2496C>T (p.Arg832=) c.2052C>T (p.Arg684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534253G>A | CA398917361 | TAOK1 | c.2497G>A (p.Glu833Lys) c.2053G>A (p.Glu685Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.29534253G>C | CA398917362 | TAOK1 | c.2497G>C (p.Glu833Gln) c.2053G>C (p.Glu685Gln) | |
17 | g.29534253G= | CA2254807226 | TAOK1 | c.2497G= (p.Glu833=) c.2053G= (p.Glu685=) | |
17 | g.29534253G>T | CA398917363 | TAOK1 | c.2497G>T (p.Glu833Ter) c.2053G>T (p.Glu685Ter) | |
17 | g.29534254A>C | CA398917364 | TAOK1 | c.2498A>C (p.Glu833Ala) c.2054A>C (p.Glu685Ala) | |
17 | g.29534254A>G | CA398917365 | TAOK1 | c.2498A>G (p.Glu833Gly) c.2054A>G (p.Glu685Gly) | |
17 | g.29534254A>T | CA398917366 | TAOK1 | c.2498A>T (p.Glu833Val) c.2054A>T (p.Glu685Val) | |
17 | g.29534255G>A | CA499152452 | TAOK1 | c.2499G>A (p.Glu833=) c.2055G>A (p.Glu685=) | |
17 | g.29534255G>C | CA398917367 | TAOK1 | c.2499G>C (p.Glu833Asp) c.2055G>C (p.Glu685Asp) | |
17 | g.29534255G>T | CA398917368 | TAOK1 | c.2499G>T (p.Glu833Asp) c.2055G>T (p.Glu685Asp) | |
17 | g.29534256C>A | CA398917371 | TAOK1 | c.2500C>A (p.Leu834Ile) c.2056C>A (p.Leu686Ile) | |
17 | g.29534256C= | CA2254807229 | TAOK1 | c.2500C= (p.Leu834=) c.2056C= (p.Leu686=) | |
17 | g.29534256C>G | CA398917370 | TAOK1 | c.2500C>G (p.Leu834Val) c.2056C>G (p.Leu686Val) | dbSNP |
17 | g.29534256C>T | CA398917369 | TAOK1 | c.2500C>T (p.Leu834Phe) c.2056C>T (p.Leu686Phe) | |
17 | g.29534257T>A | CA398917372 | TAOK1 | c.2501T>A (p.Leu834His) c.2057T>A (p.Leu686His) | |
17 | g.29534257T>C | CA398917373 | TAOK1 | c.2501T>C (p.Leu834Pro) c.2057T>C (p.Leu686Pro) | |
17 | g.29534257T>G | CA398917374 | TAOK1 | c.2501T>G (p.Leu834Arg) c.2057T>G (p.Leu686Arg) | |
17 | g.29534258T>A | CA499152456 | TAOK1 | c.2502T>A (p.Leu834=) c.2058T>A (p.Leu686=) | |
17 | g.29534258T>C | CA499152455 | TAOK1 | c.2502T>C (p.Leu834=) c.2058T>C (p.Leu686=) | |
17 | g.29534258T>G | CA499152454 | TAOK1 | c.2502T>G (p.Leu834=) c.2058T>G (p.Leu686=) | |
17 | g.29534259G>A | CA398917375 | TAOK1 | c.2503G>A (p.Glu835Lys) c.2059G>A (p.Glu687Lys) | |
17 | g.29534259G>C | CA398917376 | TAOK1 | c.2503G>C (p.Glu835Gln) c.2059G>C (p.Glu687Gln) | |
17 | g.29534259G>T | CA398917377 | TAOK1 | c.2503G>T (p.Glu835Ter) c.2059G>T (p.Glu687Ter) | ClinVar dbSNP |
17 | g.29534260A>C | CA398917378 | TAOK1 | c.2504A>C (p.Glu835Ala) c.2060A>C (p.Glu687Ala) | |
17 | g.29534260A>G | CA398917379 | TAOK1 | c.2504A>G (p.Glu835Gly) c.2060A>G (p.Glu687Gly) | |
17 | g.29534260A>T | CA398917380 | TAOK1 | c.2504A>T (p.Glu835Val) c.2060A>T (p.Glu687Val) | |
17 | g.29534261A= | CA2254807232 | TAOK1 | c.2505A= (p.Glu835=) c.2061A= (p.Glu687=) | |
17 | g.29534261A>C | CA398917381 | TAOK1 | c.2505A>C (p.Glu835Asp) c.2061A>C (p.Glu687Asp) | |
17 | g.29534261A>G | CA8474872 | TAOK1 | c.2505A>G (p.Glu835=) c.2061A>G (p.Glu687=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534261A>T | CA398917382 | TAOK1 | c.2505A>T (p.Glu835Asp) c.2061A>T (p.Glu687Asp) | |
17 | g.29534262C>A | CA398917385 | TAOK1 | c.2506C>A (p.Gln836Lys) c.2062C>A (p.Gln688Lys) | |
17 | g.29534262C>G | CA398917384 | TAOK1 | c.2506C>G (p.Gln836Glu) c.2062C>G (p.Gln688Glu) | |
17 | g.29534262C>T | CA398917383 | TAOK1 | c.2506C>T (p.Gln836Ter) c.2062C>T (p.Gln688Ter) | |
17 | g.29534263A>C | CA398917386 | TAOK1 | c.2507A>C (p.Gln836Pro) c.2063A>C (p.Gln688Pro) | |
17 | g.29534263A>G | CA398917388 | TAOK1 | c.2507A>G (p.Gln836Arg) c.2063A>G (p.Gln688Arg) | |
17 | g.29534263A>T | CA398917387 | TAOK1 | c.2507A>T (p.Gln836Leu) c.2063A>T (p.Gln688Leu) | |
17 | g.29534264G>A | CA499152462 | TAOK1 | c.2508G>A (p.Gln836=) c.2064G>A (p.Gln688=) | |
17 | g.29534264G>C | CA289202119 | TAOK1 | c.2508G>C (p.Gln836His) c.2064G>C (p.Gln688His) | dbSNP |
17 | g.29534264G= | CA2254807235 | TAOK1 | c.2508G= (p.Gln836=) c.2064G= (p.Gln688=) | |
17 | g.29534264G>T | CA398917389 | TAOK1 | c.2508G>T (p.Gln836His) c.2064G>T (p.Gln688His) | |
17 | g.29534265A>C | CA499152464 | TAOK1 | c.2509A>C (p.Arg837=) c.2065A>C (p.Arg689=) | |
17 | g.29534265A>G | CA398917390 | TAOK1 | c.2509A>G (p.Arg837Gly) c.2065A>G (p.Arg689Gly) | |
17 | g.29534265A>T | CA398917391 | TAOK1 | c.2509A>T (p.Arg837Trp) c.2065A>T (p.Arg689Trp) | |
17 | g.29534266G>A | CA398917392 | TAOK1 | c.2510G>A (p.Arg837Lys) c.2066G>A (p.Arg689Lys) | gnomAD v3 gnomAD v4 |
17 | g.29534266G>C | CA398917393 | TAOK1 | c.2510G>C (p.Arg837Thr) c.2066G>C (p.Arg689Thr) | |
17 | g.29534266G>T | CA398917394 | TAOK1 | c.2510G>T (p.Arg837Met) c.2066G>T (p.Arg689Met) | |
17 | g.29534267G>A | CA8474873 | TAOK1 | c.2511G>A (p.Arg837=) c.2067G>A (p.Arg689=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534267G>C | CA398917395 | TAOK1 | c.2511G>C (p.Arg837Ser) c.2067G>C (p.Arg689Ser) | |
17 | g.29534267G= | CA2254807238 | TAOK1 | c.2511G= (p.Arg837=) c.2067G= (p.Arg689=) | |
17 | g.29534267G>T | CA398917396 | TAOK1 | c.2511G>T (p.Arg837Ser) c.2067G>T (p.Arg689Ser) | |
17 | g.29534268G>A | CA398917397 | TAOK1 | c.2512G>A (p.Val838Ile) c.2068G>A (p.Val690Ile) | |
17 | g.29534268G>C | CA398917398 | TAOK1 | c.2512G>C (p.Val838Leu) c.2068G>C (p.Val690Leu) | |
17 | g.29534268G>T | CA398917399 | TAOK1 | c.2512G>T (p.Val838Phe) c.2068G>T (p.Val690Phe) | gnomAD v4 |
17 | g.29534268_29534271dup | CA8474874 | TAOK1 | c.2512_2515dup (p.Ser839CysfsTer13) c.2068_2071dup (p.Ser691CysfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29534269T>A | CA398917402 | TAOK1 | c.2513T>A (p.Val838Asp) c.2069T>A (p.Val690Asp) | |
17 | g.29534269T>C | CA398917400 | TAOK1 | c.2513T>C (p.Val838Ala) c.2069T>C (p.Val690Ala) | |
17 | g.29534269T>G | CA398917401 | TAOK1 | c.2513T>G (p.Val838Gly) c.2069T>G (p.Val690Gly) | |
17 | g.29534270C>A | CA499152468 | TAOK1 | c.2514C>A (p.Val838=) c.2070C>A (p.Val690=) | |
17 | g.29534270C>G | CA499152469 | TAOK1 | c.2514C>G (p.Val838=) c.2070C>G (p.Val690=) | |
17 | g.29534270C>T | CA499152470 | TAOK1 | c.2514C>T (p.Val838=) c.2070C>T (p.Val690=) | gnomAD v4 |
17 | g.29534271T>A | CA398917403 | TAOK1 | c.2515T>A (p.Ser839Thr) c.2071T>A (p.Ser691Thr) | |
17 | g.29534271T>C | CA398917404 | TAOK1 | c.2515T>C (p.Ser839Pro) c.2071T>C (p.Ser691Pro) | |
17 | g.29534271T>G | CA398917405 | TAOK1 | c.2515T>G (p.Ser839Ala) c.2071T>G (p.Ser691Ala) | |
17 | g.29534272C>A | CA398917406 | TAOK1 | c.2516C>A (p.Ser839Tyr) c.2072C>A (p.Ser691Tyr) | |
17 | g.29534272C>G | CA398917407 | TAOK1 | c.2516C>G (p.Ser839Cys) c.2072C>G (p.Ser691Cys) | dbSNP |
17 | g.29534272C>T | CA398917408 | TAOK1 | c.2516C>T (p.Ser839Phe) c.2072C>T (p.Ser691Phe) | |
17 | g.29534273C>A | CA499152477 | TAOK1 | c.2517C>A (p.Ser839=) c.2073C>A (p.Ser691=) | gnomAD v4 |
17 | g.29534273C>G | CA499152475 | TAOK1 | c.2517C>G (p.Ser839=) c.2073C>G (p.Ser691=) | |
17 | g.29534273C>T | CA499152476 | TAOK1 | c.2517C>T (p.Ser839=) c.2073C>T (p.Ser691=) | |
17 | g.29534274C>A | CA398917409 | TAOK1 | c.2518C>A (p.Leu840Ile) c.2074C>A (p.Leu692Ile) | gnomAD v4 |
17 | g.29534274C= | CA2254807243 | TAOK1 | c.2518C= (p.Leu840=) c.2074C= (p.Leu692=) | |
17 | g.29534274C>G | CA398917410 | TAOK1 | c.2518C>G (p.Leu840Val) c.2074C>G (p.Leu692Val) | |
17 | g.29534274C>T | CA398917411 | TAOK1 | c.2518C>T (p.Leu840Phe) c.2074C>T (p.Leu692Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29534275T>A | CA398917412 | TAOK1 | c.2519T>A (p.Leu840His) c.2075T>A (p.Leu692His) | |
17 | g.29534275T>C | CA398917413 | TAOK1 | c.2519T>C (p.Leu840Pro) c.2075T>C (p.Leu692Pro) | |
17 | g.29534275T>G | CA398917414 | TAOK1 | c.2519T>G (p.Leu840Arg) c.2075T>G (p.Leu692Arg) | |
17 | g.29534276C>A | CA499152481 | TAOK1 | c.2520C>A (p.Leu840=) c.2076C>A (p.Leu692=) | |
17 | g.29534276C= | CA2254807249 | TAOK1 | c.2520C= (p.Leu840=) c.2076C= (p.Leu692=) | |
17 | g.29534276C>G | CA499152482 | TAOK1 | c.2520C>G (p.Leu840=) c.2076C>G (p.Leu692=) | dbSNP gnomAD v4 |
17 | g.29534276C>T | CA499152483 | TAOK1 | c.2520C>T (p.Leu840=) c.2076C>T (p.Leu692=) | dbSNP |
17 | g.29534277C>A | CA499152484 | TAOK1 | c.2521C>A (p.Arg841=) c.2077C>A (p.Arg693=) | gnomAD v4 |
17 | g.29534277C= | CA2254807251 | TAOK1 | c.2521C= (p.Arg841=) c.2077C= (p.Arg693=) | |
17 | g.29534277C>G | CA398917415 | TAOK1 | c.2521C>G (p.Arg841Gly) c.2077C>G (p.Arg693Gly) | |
17 | g.29534277C>T | CA8474875 | TAOK1 | c.2521C>T (p.Arg841Trp) c.2077C>T (p.Arg693Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |