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.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 |
| 10 | g.74525425C>G | CA377398197 | ADK | c.725C>G (p.Thr242Arg) c.674C>G (p.Thr225Arg) c.449C>G (p.Thr150Arg) c.556-63857C>G (n.556-63857C>G) c.465C>G c.*470C>G (n.*470C>G) c.620C>G (p.Thr207Arg) n.62C>G n.259+2341G>C c.641C>G (p.Thr214Arg) c.530C>G (p.Thr177Arg) c.505-63857C>G (n.505-63857C>G) | |
| 10 | g.74525425C>T | CA377398198 | ADK | c.725C>T (p.Thr242Ile) c.674C>T (p.Thr225Ile) c.449C>T (p.Thr150Ile) c.556-63857C>T (n.556-63857C>T) c.465C>T c.*470C>T (n.*470C>T) c.620C>T (p.Thr207Ile) n.62C>T n.259+2341G>A c.641C>T (p.Thr214Ile) c.530C>T (p.Thr177Ile) c.505-63857C>T (n.505-63857C>T) | |
| 10 | g.74525426A= | CA1920088483 | ADK | c.726A= (p.Thr242=) c.675A= (p.Thr225=) c.450A= (p.Thr150=) c.556-63856A= (n.556-63856A=) c.466A= c.*471A= (n.*471A=) c.621A= (p.Thr207=) n.63A= n.259+2340T= c.642A= (p.Thr214=) c.531A= (p.Thr177=) c.505-63856A= (n.505-63856A=) | |
| 10 | g.74525426A>C | CA470254867 | ADK | c.726A>C (p.Thr242=) c.675A>C (p.Thr225=) c.450A>C (p.Thr150=) c.556-63856A>C (n.556-63856A>C) c.466A>C c.*471A>C (n.*471A>C) c.621A>C (p.Thr207=) n.63A>C n.259+2340T>G c.642A>C (p.Thr214=) c.531A>C (p.Thr177=) c.505-63856A>C (n.505-63856A>C) | |
| 10 | g.74525426A>G | CA470254868 | ADK | c.726A>G (p.Thr242=) c.675A>G (p.Thr225=) c.450A>G (p.Thr150=) c.556-63856A>G (n.556-63856A>G) c.466A>G c.*471A>G (n.*471A>G) c.621A>G (p.Thr207=) n.63A>G n.259+2340T>C c.642A>G (p.Thr214=) c.531A>G (p.Thr177=) c.505-63856A>G (n.505-63856A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.74525426A>T | CA470254869 | ADK | c.726A>T (p.Thr242=) c.675A>T (p.Thr225=) c.450A>T (p.Thr150=) c.556-63856A>T (n.556-63856A>T) c.466A>T c.*471A>T (n.*471A>T) c.621A>T (p.Thr207=) n.63A>T n.259+2340T>A c.642A>T (p.Thr214=) c.531A>T (p.Thr177=) c.505-63856A>T (n.505-63856A>T) | |
| 10 | g.74525427G>A | CA377398199 | ADK | c.726+1G>A (n.726+1G>A) c.675+1G>A (n.675+1G>A) c.450+1G>A (n.450+1G>A) c.556-63855G>A (n.556-63855G>A) c.466+1G>A c.*471+1G>A (n.*471+1G>A) c.621+1G>A (n.621+1G>A) n.63+1G>A n.259+2339C>T c.642+1G>A (n.642+1G>A) c.531+1G>A (n.531+1G>A) c.505-63855G>A (n.505-63855G>A) | |
| 10 | g.74525427G>C | CA377398201 | ADK | c.726+1G>C (n.726+1G>C) c.675+1G>C (n.675+1G>C) c.450+1G>C (n.450+1G>C) c.556-63855G>C (n.556-63855G>C) c.466+1G>C c.*471+1G>C (n.*471+1G>C) c.621+1G>C (n.621+1G>C) n.63+1G>C n.259+2339C>G c.642+1G>C (n.642+1G>C) c.531+1G>C (n.531+1G>C) c.505-63855G>C (n.505-63855G>C) | |
| 10 | g.74525427G>T | CA377398200 | ADK | c.726+1G>T (n.726+1G>T) c.675+1G>T (n.675+1G>T) c.450+1G>T (n.450+1G>T) c.556-63855G>T (n.556-63855G>T) c.466+1G>T c.*471+1G>T (n.*471+1G>T) c.621+1G>T (n.621+1G>T) n.63+1G>T n.259+2339C>A c.642+1G>T (n.642+1G>T) c.531+1G>T (n.531+1G>T) c.505-63855G>T (n.505-63855G>T) | |
| 10 | g.74525428T>A | CA377398202 | ADK | c.726+2T>A (n.726+2T>A) c.675+2T>A (n.675+2T>A) c.450+2T>A (n.450+2T>A) c.556-63854T>A (n.556-63854T>A) c.466+2T>A c.*471+2T>A (n.*471+2T>A) c.621+2T>A (n.621+2T>A) n.63+2T>A n.259+2338A>T c.642+2T>A (n.642+2T>A) c.531+2T>A (n.531+2T>A) c.505-63854T>A (n.505-63854T>A) | |
| 10 | g.74525428T>C | CA377398204 | ADK | c.726+2T>C (n.726+2T>C) c.675+2T>C (n.675+2T>C) c.450+2T>C (n.450+2T>C) c.556-63854T>C (n.556-63854T>C) c.466+2T>C c.*471+2T>C (n.*471+2T>C) c.621+2T>C (n.621+2T>C) n.63+2T>C n.259+2338A>G c.642+2T>C (n.642+2T>C) c.531+2T>C (n.531+2T>C) c.505-63854T>C (n.505-63854T>C) | |
| 10 | g.74525428T>G | CA377398203 | ADK | c.726+2T>G (n.726+2T>G) c.675+2T>G (n.675+2T>G) c.450+2T>G (n.450+2T>G) c.556-63854T>G (n.556-63854T>G) c.466+2T>G c.*471+2T>G (n.*471+2T>G) c.621+2T>G (n.621+2T>G) n.63+2T>G n.259+2338A>C c.642+2T>G (n.642+2T>G) c.531+2T>G (n.531+2T>G) c.505-63854T>G (n.505-63854T>G) | |
| 10 | g.74525429G>A | CA929990694 | ADK | c.726+3G>A (n.726+3G>A) c.675+3G>A (n.675+3G>A) c.450+3G>A (n.450+3G>A) c.556-63853G>A (n.556-63853G>A) c.466+3G>A c.*471+3G>A (n.*471+3G>A) c.621+3G>A (n.621+3G>A) n.63+3G>A n.259+2337C>T c.642+3G>A (n.642+3G>A) c.531+3G>A (n.531+3G>A) c.505-63853G>A (n.505-63853G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525429G= | CA1920088485 | ADK | c.726+3G= (n.726+3G=) c.675+3G= (n.675+3G=) c.450+3G= (n.450+3G=) c.556-63853G= (n.556-63853G=) c.466+3G= c.*471+3G= (n.*471+3G=) c.621+3G= (n.621+3G=) n.63+3G= n.259+2337C= c.642+3G= (n.642+3G=) c.531+3G= (n.531+3G=) c.505-63853G= (n.505-63853G=) | |
| 10 | g.74525431G>A | CA2609737829 | ADK | c.726+5G>A (n.726+5G>A) c.675+5G>A (n.675+5G>A) c.450+5G>A (n.450+5G>A) c.556-63851G>A (n.556-63851G>A) c.466+5G>A c.*471+5G>A (n.*471+5G>A) c.621+5G>A (n.621+5G>A) n.63+5G>A n.259+2335C>T c.642+5G>A (n.642+5G>A) c.531+5G>A (n.531+5G>A) c.505-63851G>A (n.505-63851G>A) | gnomAD v4 |
| 10 | g.74525431G= | CA1920088487 | ADK | c.726+5G= (n.726+5G=) c.675+5G= (n.675+5G=) c.450+5G= (n.450+5G=) c.556-63851G= (n.556-63851G=) c.466+5G= c.*471+5G= (n.*471+5G=) c.621+5G= (n.621+5G=) n.63+5G= n.259+2335C= c.642+5G= (n.642+5G=) c.531+5G= (n.531+5G=) c.505-63851G= (n.505-63851G=) |