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 |
|---|---|---|---|---|---|
| 10 | g.74525414del | CA2574586163 | ADK | c.714del (p.Phe238LeufsTer24) c.663del (p.Phe221LeufsTer24) c.438del (p.Phe146LeufsTer24) c.556-63868del (n.556-63868del) c.454del c.*459del (n.*459del) c.609del (p.Phe203LeufsTer24) c.663del (p.Phe221LeufsTer?) c.714del (p.Phe238LeufsTer19) n.51del n.259+2356del c.630del (p.Phe210LeufsTer24) c.519del (p.Phe173LeufsTer24) c.505-63868del (n.505-63868del) c.663del (p.Phe221LeufsTer19) c.714del (p.Phe238LeufsTer?) | |
| 10 | g.74525411T>A | CA470254860 | ADK | c.711T>A (p.Leu237=) c.660T>A (p.Leu220=) c.435T>A (p.Leu145=) c.556-63871T>A (n.556-63871T>A) c.451T>A c.*456T>A (n.*456T>A) c.606T>A (p.Leu202=) n.48T>A n.259+2355A>T c.627T>A (p.Leu209=) c.516T>A (p.Leu172=) c.505-63871T>A (n.505-63871T>A) | |
| 10 | g.74525411T>C | CA470254859 | ADK | c.711T>C (p.Leu237=) c.660T>C (p.Leu220=) c.435T>C (p.Leu145=) c.556-63871T>C (n.556-63871T>C) c.451T>C c.*456T>C (n.*456T>C) c.606T>C (p.Leu202=) n.48T>C n.259+2355A>G c.627T>C (p.Leu209=) c.516T>C (p.Leu172=) c.505-63871T>C (n.505-63871T>C) | |
| 10 | g.74525411T>G | CA470254858 | ADK | c.711T>G (p.Leu237=) c.660T>G (p.Leu220=) c.435T>G (p.Leu145=) c.556-63871T>G (n.556-63871T>G) c.451T>G c.*456T>G (n.*456T>G) c.606T>G (p.Leu202=) n.48T>G n.259+2355A>C c.627T>G (p.Leu209=) c.516T>G (p.Leu172=) c.505-63871T>G (n.505-63871T>G) | gnomAD v4 |
| 10 | g.74525412T>A | CA377398164 | ADK | c.712T>A (p.Phe238Ile) c.661T>A (p.Phe221Ile) c.436T>A (p.Phe146Ile) c.556-63870T>A (n.556-63870T>A) c.452T>A c.*457T>A (n.*457T>A) c.607T>A (p.Phe203Ile) n.49T>A n.259+2354A>T c.628T>A (p.Phe210Ile) c.517T>A (p.Phe173Ile) c.505-63870T>A (n.505-63870T>A) | |
| 10 | g.74525412T>C | CA377398165 | ADK | c.712T>C (p.Phe238Leu) c.661T>C (p.Phe221Leu) c.436T>C (p.Phe146Leu) c.556-63870T>C (n.556-63870T>C) c.452T>C c.*457T>C (n.*457T>C) c.607T>C (p.Phe203Leu) n.49T>C n.259+2354A>G c.628T>C (p.Phe210Leu) c.517T>C (p.Phe173Leu) c.505-63870T>C (n.505-63870T>C) | |
| 10 | g.74525412T>G | CA377398166 | ADK | c.712T>G (p.Phe238Val) c.661T>G (p.Phe221Val) c.436T>G (p.Phe146Val) c.556-63870T>G (n.556-63870T>G) c.452T>G c.*457T>G (n.*457T>G) c.607T>G (p.Phe203Val) n.49T>G n.259+2354A>C c.628T>G (p.Phe210Val) c.517T>G (p.Phe173Val) c.505-63870T>G (n.505-63870T>G) | |
| 10 | g.74525413T>A | CA377398167 | ADK | c.713T>A (p.Phe238Tyr) c.662T>A (p.Phe221Tyr) c.437T>A (p.Phe146Tyr) c.556-63869T>A (n.556-63869T>A) c.453T>A c.*458T>A (n.*458T>A) c.608T>A (p.Phe203Tyr) n.50T>A n.259+2353A>T c.629T>A (p.Phe210Tyr) c.518T>A (p.Phe173Tyr) c.505-63869T>A (n.505-63869T>A) | |
| 10 | g.74525413T>C | CA377398168 | ADK | c.713T>C (p.Phe238Ser) c.662T>C (p.Phe221Ser) c.437T>C (p.Phe146Ser) c.556-63869T>C (n.556-63869T>C) c.453T>C c.*458T>C (n.*458T>C) c.608T>C (p.Phe203Ser) n.50T>C n.259+2353A>G c.629T>C (p.Phe210Ser) c.518T>C (p.Phe173Ser) c.505-63869T>C (n.505-63869T>C) | |
| 10 | g.74525413T>G | CA377398169 | ADK | c.713T>G (p.Phe238Cys) c.662T>G (p.Phe221Cys) c.437T>G (p.Phe146Cys) c.556-63869T>G (n.556-63869T>G) c.453T>G c.*458T>G (n.*458T>G) c.608T>G (p.Phe203Cys) n.50T>G n.259+2353A>C c.629T>G (p.Phe210Cys) c.518T>G (p.Phe173Cys) c.505-63869T>G (n.505-63869T>G) | |
| 10 | g.74525414T>A | CA377398170 | ADK | c.714T>A (p.Phe238Leu) c.663T>A (p.Phe221Leu) c.438T>A (p.Phe146Leu) c.556-63868T>A (n.556-63868T>A) c.454T>A c.*459T>A (n.*459T>A) c.609T>A (p.Phe203Leu) n.51T>A n.259+2352A>T c.630T>A (p.Phe210Leu) c.519T>A (p.Phe173Leu) c.505-63868T>A (n.505-63868T>A) | |
| 10 | g.74525414T>C | CA470254861 | ADK | c.714T>C (p.Phe238=) c.663T>C (p.Phe221=) c.438T>C (p.Phe146=) c.556-63868T>C (n.556-63868T>C) c.454T>C c.*459T>C (n.*459T>C) c.609T>C (p.Phe203=) n.51T>C n.259+2352A>G c.630T>C (p.Phe210=) c.519T>C (p.Phe173=) c.505-63868T>C (n.505-63868T>C) | gnomAD v4 |
| 10 | g.74525414T>G | CA377398171 | ADK | c.714T>G (p.Phe238Leu) c.663T>G (p.Phe221Leu) c.438T>G (p.Phe146Leu) c.556-63868T>G (n.556-63868T>G) c.454T>G c.*459T>G (n.*459T>G) c.609T>G (p.Phe203Leu) n.51T>G n.259+2352A>C c.630T>G (p.Phe210Leu) c.519T>G (p.Phe173Leu) c.505-63868T>G (n.505-63868T>G) | |
| 10 | g.74525415G>A | CA377398172 | ADK | c.715G>A (p.Gly239Arg) c.664G>A (p.Gly222Arg) c.439G>A (p.Gly147Arg) c.556-63867G>A (n.556-63867G>A) c.455G>A c.*460G>A (n.*460G>A) c.610G>A (p.Gly204Arg) n.52G>A n.259+2351C>T c.631G>A (p.Gly211Arg) c.520G>A (p.Gly174Arg) c.505-63867G>A (n.505-63867G>A) | |
| 10 | g.74525415G>C | CA377398173 | ADK | c.715G>C (p.Gly239Arg) c.664G>C (p.Gly222Arg) c.439G>C (p.Gly147Arg) c.556-63867G>C (n.556-63867G>C) c.455G>C c.*460G>C (n.*460G>C) c.610G>C (p.Gly204Arg) n.52G>C n.259+2351C>G c.631G>C (p.Gly211Arg) c.520G>C (p.Gly174Arg) c.505-63867G>C (n.505-63867G>C) | |
| 10 | g.74525415G>T | CA377398174 | ADK | c.715G>T (p.Gly239Ter) c.664G>T (p.Gly222Ter) c.439G>T (p.Gly147Ter) c.556-63867G>T (n.556-63867G>T) c.455G>T c.*460G>T (n.*460G>T) c.610G>T (p.Gly204Ter) n.52G>T n.259+2351C>A c.631G>T (p.Gly211Ter) c.520G>T (p.Gly174Ter) c.505-63867G>T (n.505-63867G>T) | |
| 10 | g.74525416G>A | CA377398175 | ADK | c.716G>A (p.Gly239Glu) c.665G>A (p.Gly222Glu) c.440G>A (p.Gly147Glu) c.556-63866G>A (n.556-63866G>A) c.456G>A c.*461G>A (n.*461G>A) c.611G>A (p.Gly204Glu) n.53G>A n.259+2350C>T c.632G>A (p.Gly211Glu) c.521G>A (p.Gly174Glu) c.505-63866G>A (n.505-63866G>A) | gnomAD v4 |
| 10 | g.74525416G>C | CA377398176 | ADK | c.716G>C (p.Gly239Ala) c.665G>C (p.Gly222Ala) c.440G>C (p.Gly147Ala) c.556-63866G>C (n.556-63866G>C) c.456G>C c.*461G>C (n.*461G>C) c.611G>C (p.Gly204Ala) n.53G>C n.259+2350C>G c.632G>C (p.Gly211Ala) c.521G>C (p.Gly174Ala) c.505-63866G>C (n.505-63866G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525416G= | CA1920088463 | ADK | c.716G= (p.Gly239=) c.665G= (p.Gly222=) c.440G= (p.Gly147=) c.556-63866G= (n.556-63866G=) c.456G= c.*461G= (n.*461G=) c.611G= (p.Gly204=) n.53G= n.259+2350C= c.632G= (p.Gly211=) c.521G= (p.Gly174=) c.505-63866G= (n.505-63866G=) | |
| 10 | g.74525416G>T | CA377398177 | ADK | c.716G>T (p.Gly239Val) c.665G>T (p.Gly222Val) c.440G>T (p.Gly147Val) c.556-63866G>T (n.556-63866G>T) c.456G>T c.*461G>T (n.*461G>T) c.611G>T (p.Gly204Val) n.53G>T n.259+2350C>A c.632G>T (p.Gly211Val) c.521G>T (p.Gly174Val) c.505-63866G>T (n.505-63866G>T) | |
| 10 | g.74525417A= | CA1920088466 | ADK | c.717A= (p.Gly239=) c.666A= (p.Gly222=) c.441A= (p.Gly147=) c.556-63865A= (n.556-63865A=) c.457A= c.*462A= (n.*462A=) c.612A= (p.Gly204=) n.54A= n.259+2349T= c.633A= (p.Gly211=) c.522A= (p.Gly174=) c.505-63865A= (n.505-63865A=) | |
| 10 | g.74525417A>C | CA5564015 | ADK | c.717A>C (p.Gly239=) c.666A>C (p.Gly222=) c.441A>C (p.Gly147=) c.556-63865A>C (n.556-63865A>C) c.457A>C c.*462A>C (n.*462A>C) c.612A>C (p.Gly204=) n.54A>C n.259+2349T>G c.633A>C (p.Gly211=) c.522A>C (p.Gly174=) c.505-63865A>C (n.505-63865A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525417A>G | CA470254863 | ADK | c.717A>G (p.Gly239=) c.666A>G (p.Gly222=) c.441A>G (p.Gly147=) c.556-63865A>G (n.556-63865A>G) c.457A>G c.*462A>G (n.*462A>G) c.612A>G (p.Gly204=) n.54A>G n.259+2349T>C c.633A>G (p.Gly211=) c.522A>G (p.Gly174=) c.505-63865A>G (n.505-63865A>G) | |
| 10 | g.74525417A>T | CA470254862 | ADK | c.717A>T (p.Gly239=) c.666A>T (p.Gly222=) c.441A>T (p.Gly147=) c.556-63865A>T (n.556-63865A>T) c.457A>T c.*462A>T (n.*462A>T) c.612A>T (p.Gly204=) n.54A>T n.259+2349T>A c.633A>T (p.Gly211=) c.522A>T (p.Gly174=) c.505-63865A>T (n.505-63865A>T) | |
| 10 | g.74525418A>C | CA377398180 | ADK | c.718A>C (p.Asn240His) c.667A>C (p.Asn223His) c.442A>C (p.Asn148His) c.556-63864A>C (n.556-63864A>C) c.458A>C c.*463A>C (n.*463A>C) c.613A>C (p.Asn205His) n.55A>C n.259+2348T>G c.634A>C (p.Asn212His) c.523A>C (p.Asn175His) c.505-63864A>C (n.505-63864A>C) | |
| 10 | g.74525418A>G | CA377398178 | ADK | c.718A>G (p.Asn240Asp) c.667A>G (p.Asn223Asp) c.442A>G (p.Asn148Asp) c.556-63864A>G (n.556-63864A>G) c.458A>G c.*463A>G (n.*463A>G) c.613A>G (p.Asn205Asp) n.55A>G n.259+2348T>C c.634A>G (p.Asn212Asp) c.523A>G (p.Asn175Asp) c.505-63864A>G (n.505-63864A>G) | |
| 10 | g.74525418A>T | CA377398179 | ADK | c.718A>T (p.Asn240Tyr) c.667A>T (p.Asn223Tyr) c.442A>T (p.Asn148Tyr) c.556-63864A>T (n.556-63864A>T) c.458A>T c.*463A>T (n.*463A>T) c.613A>T (p.Asn205Tyr) n.55A>T n.259+2348T>A c.634A>T (p.Asn212Tyr) c.523A>T (p.Asn175Tyr) c.505-63864A>T (n.505-63864A>T) | |
| 10 | g.74525419A= | CA1920088469 | ADK | c.719A= (p.Asn240=) c.668A= (p.Asn223=) c.443A= (p.Asn148=) c.556-63863A= (n.556-63863A=) c.459A= c.*464A= (n.*464A=) c.614A= (p.Asn205=) n.56A= n.259+2347T= c.635A= (p.Asn212=) c.524A= (p.Asn175=) c.505-63863A= (n.505-63863A=) | |
| 10 | g.74525419A>C | CA377398181 | ADK | c.719A>C (p.Asn240Thr) c.668A>C (p.Asn223Thr) c.443A>C (p.Asn148Thr) c.556-63863A>C (n.556-63863A>C) c.459A>C c.*464A>C (n.*464A>C) c.614A>C (p.Asn205Thr) n.56A>C n.259+2347T>G c.635A>C (p.Asn212Thr) c.524A>C (p.Asn175Thr) c.505-63863A>C (n.505-63863A>C) | |
| 10 | g.74525419A>G | CA5564016 | ADK | c.719A>G (p.Asn240Ser) c.668A>G (p.Asn223Ser) c.443A>G (p.Asn148Ser) c.556-63863A>G (n.556-63863A>G) c.459A>G c.*464A>G (n.*464A>G) c.614A>G (p.Asn205Ser) n.56A>G n.259+2347T>C c.635A>G (p.Asn212Ser) c.524A>G (p.Asn175Ser) c.505-63863A>G (n.505-63863A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525419A>T | CA377398182 | ADK | c.719A>T (p.Asn240Ile) c.668A>T (p.Asn223Ile) c.443A>T (p.Asn148Ile) c.556-63863A>T (n.556-63863A>T) c.459A>T c.*464A>T (n.*464A>T) c.614A>T (p.Asn205Ile) n.56A>T n.259+2347T>A c.635A>T (p.Asn212Ile) c.524A>T (p.Asn175Ile) c.505-63863A>T (n.505-63863A>T) | |
| 10 | g.74525420T>A | CA377398183 | ADK | c.720T>A (p.Asn240Lys) c.669T>A (p.Asn223Lys) c.444T>A (p.Asn148Lys) c.556-63862T>A (n.556-63862T>A) c.460T>A c.*465T>A (n.*465T>A) c.615T>A (p.Asn205Lys) n.57T>A n.259+2346A>T c.636T>A (p.Asn212Lys) c.525T>A (p.Asn175Lys) c.505-63862T>A (n.505-63862T>A) | |
| 10 | g.74525420T>C | CA470254865 | ADK | c.720T>C (p.Asn240=) c.669T>C (p.Asn223=) c.444T>C (p.Asn148=) c.556-63862T>C (n.556-63862T>C) c.460T>C c.*465T>C (n.*465T>C) c.615T>C (p.Asn205=) n.57T>C n.259+2346A>G c.636T>C (p.Asn212=) c.525T>C (p.Asn175=) c.505-63862T>C (n.505-63862T>C) | |
| 10 | g.74525420T>G | CA377398184 | ADK | c.720T>G (p.Asn240Lys) c.669T>G (p.Asn223Lys) c.444T>G (p.Asn148Lys) c.556-63862T>G (n.556-63862T>G) c.460T>G c.*465T>G (n.*465T>G) c.615T>G (p.Asn205Lys) n.57T>G n.259+2346A>C c.636T>G (p.Asn212Lys) c.525T>G (p.Asn175Lys) c.505-63862T>G (n.505-63862T>G) | |
| 10 | g.74525421G>A | CA377398185 | ADK | c.721G>A (p.Glu241Lys) c.670G>A (p.Glu224Lys) c.445G>A (p.Glu149Lys) c.556-63861G>A (n.556-63861G>A) c.461G>A c.*466G>A (n.*466G>A) c.616G>A (p.Glu206Lys) n.58G>A n.259+2345C>T c.637G>A (p.Glu213Lys) c.526G>A (p.Glu176Lys) c.505-63861G>A (n.505-63861G>A) | dbSNP gnomAD v4 |
| 10 | g.74525421G>C | CA377398187 | ADK | c.721G>C (p.Glu241Gln) c.670G>C (p.Glu224Gln) c.445G>C (p.Glu149Gln) c.556-63861G>C (n.556-63861G>C) c.461G>C c.*466G>C (n.*466G>C) c.616G>C (p.Glu206Gln) n.58G>C n.259+2345C>G c.637G>C (p.Glu213Gln) c.526G>C (p.Glu176Gln) c.505-63861G>C (n.505-63861G>C) | |
| 10 | g.74525421G= | CA1920088473 | ADK | c.721G= (p.Glu241=) c.670G= (p.Glu224=) c.445G= (p.Glu149=) c.556-63861G= (n.556-63861G=) c.461G= c.*466G= (n.*466G=) c.616G= (p.Glu206=) n.58G= n.259+2345C= c.637G= (p.Glu213=) c.526G= (p.Glu176=) c.505-63861G= (n.505-63861G=) | |
| 10 | g.74525421G>T | CA377398186 | ADK | c.721G>T (p.Glu241Ter) c.670G>T (p.Glu224Ter) c.445G>T (p.Glu149Ter) c.556-63861G>T (n.556-63861G>T) c.461G>T c.*466G>T (n.*466G>T) c.616G>T (p.Glu206Ter) n.58G>T n.259+2345C>A c.637G>T (p.Glu213Ter) c.526G>T (p.Glu176Ter) c.505-63861G>T (n.505-63861G>T) | gnomAD v4 |
| 10 | g.74525422A>C | CA377398188 | ADK | c.722A>C (p.Glu241Ala) c.671A>C (p.Glu224Ala) c.446A>C (p.Glu149Ala) c.556-63860A>C (n.556-63860A>C) c.462A>C c.*467A>C (n.*467A>C) c.617A>C (p.Glu206Ala) n.59A>C n.259+2344T>G c.638A>C (p.Glu213Ala) c.527A>C (p.Glu176Ala) c.505-63860A>C (n.505-63860A>C) | |
| 10 | g.74525422A>G | CA377398189 | ADK | c.722A>G (p.Glu241Gly) c.671A>G (p.Glu224Gly) c.446A>G (p.Glu149Gly) c.556-63860A>G (n.556-63860A>G) c.462A>G c.*467A>G (n.*467A>G) c.617A>G (p.Glu206Gly) n.59A>G n.259+2344T>C c.638A>G (p.Glu213Gly) c.527A>G (p.Glu176Gly) c.505-63860A>G (n.505-63860A>G) | |
| 10 | g.74525422A>T | CA377398190 | ADK | c.722A>T (p.Glu241Val) c.671A>T (p.Glu224Val) c.446A>T (p.Glu149Val) c.556-63860A>T (n.556-63860A>T) c.462A>T c.*467A>T (n.*467A>T) c.617A>T (p.Glu206Val) n.59A>T n.259+2344T>A c.638A>T (p.Glu213Val) c.527A>T (p.Glu176Val) c.505-63860A>T (n.505-63860A>T) | |
| 10 | g.74525423G>A | CA470254866 | ADK | c.723G>A (p.Glu241=) c.672G>A (p.Glu224=) c.447G>A (p.Glu149=) c.556-63859G>A (n.556-63859G>A) c.463G>A c.*468G>A (n.*468G>A) c.618G>A (p.Glu206=) n.60G>A n.259+2343C>T c.639G>A (p.Glu213=) c.528G>A (p.Glu176=) c.505-63859G>A (n.505-63859G>A) | |
| 10 | g.74525423G>C | CA377398191 | ADK | c.723G>C (p.Glu241Asp) c.672G>C (p.Glu224Asp) c.447G>C (p.Glu149Asp) c.556-63859G>C (n.556-63859G>C) c.463G>C c.*468G>C (n.*468G>C) c.618G>C (p.Glu206Asp) n.60G>C n.259+2343C>G c.639G>C (p.Glu213Asp) c.528G>C (p.Glu176Asp) c.505-63859G>C (n.505-63859G>C) | dbSNP gnomAD v4 |
| 10 | g.74525423G= | CA1920088476 | ADK | c.723G= (p.Glu241=) c.672G= (p.Glu224=) c.447G= (p.Glu149=) c.556-63859G= (n.556-63859G=) c.463G= c.*468G= (n.*468G=) c.618G= (p.Glu206=) n.60G= n.259+2343C= c.639G= (p.Glu213=) c.528G= (p.Glu176=) c.505-63859G= (n.505-63859G=) | |
| 10 | g.74525423G>T | CA377398192 | ADK | c.723G>T (p.Glu241Asp) c.672G>T (p.Glu224Asp) c.447G>T (p.Glu149Asp) c.556-63859G>T (n.556-63859G>T) c.463G>T c.*468G>T (n.*468G>T) c.618G>T (p.Glu206Asp) n.60G>T n.259+2343C>A c.639G>T (p.Glu213Asp) c.528G>T (p.Glu176Asp) c.505-63859G>T (n.505-63859G>T) | gnomAD v4 |
| 10 | g.74525424A= | CA1920088479 | ADK | c.724A= (p.Thr242=) c.673A= (p.Thr225=) c.448A= (p.Thr150=) c.556-63858A= (n.556-63858A=) c.464A= c.*469A= (n.*469A=) c.619A= (p.Thr207=) n.61A= n.259+2342T= c.640A= (p.Thr214=) c.529A= (p.Thr177=) c.505-63858A= (n.505-63858A=) | |
| 10 | g.74525424A>C | CA377398193 | ADK | c.724A>C (p.Thr242Pro) c.673A>C (p.Thr225Pro) c.448A>C (p.Thr150Pro) c.556-63858A>C (n.556-63858A>C) c.464A>C c.*469A>C (n.*469A>C) c.619A>C (p.Thr207Pro) n.61A>C n.259+2342T>G c.640A>C (p.Thr214Pro) c.529A>C (p.Thr177Pro) c.505-63858A>C (n.505-63858A>C) | |
| 10 | g.74525424A>G | CA377398194 | ADK | c.724A>G (p.Thr242Ala) c.673A>G (p.Thr225Ala) c.448A>G (p.Thr150Ala) c.556-63858A>G (n.556-63858A>G) c.464A>G c.*469A>G (n.*469A>G) c.619A>G (p.Thr207Ala) n.61A>G n.259+2342T>C c.640A>G (p.Thr214Ala) c.529A>G (p.Thr177Ala) c.505-63858A>G (n.505-63858A>G) | |
| 10 | g.74525424A>T | CA377398195 | ADK | c.724A>T (p.Thr242Ser) c.673A>T (p.Thr225Ser) c.448A>T (p.Thr150Ser) c.556-63858A>T (n.556-63858A>T) c.464A>T c.*469A>T (n.*469A>T) c.619A>T (p.Thr207Ser) n.61A>T n.259+2342T>A c.640A>T (p.Thr214Ser) c.529A>T (p.Thr177Ser) c.505-63858A>T (n.505-63858A>T) | dbSNP |
| 10 | g.74525425C>A | CA377398196 | ADK | c.725C>A (p.Thr242Lys) c.674C>A (p.Thr225Lys) c.449C>A (p.Thr150Lys) c.556-63857C>A (n.556-63857C>A) c.465C>A c.*470C>A (n.*470C>A) c.620C>A (p.Thr207Lys) n.62C>A n.259+2341G>T c.641C>A (p.Thr214Lys) c.530C>A (p.Thr177Lys) c.505-63857C>A (n.505-63857C>A) | gnomAD v4 |