| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99864490_99864493del | CA2646736091 | AGL | c.565_568del (p.Asn189GlufsTer11) n.776_779del c.517_520del (p.Asn173GlufsTer11) c.514_517del (p.Asn172GlufsTer11) | gnomAD v4 |
| 1 | g.99864492_99864495del | CA2574444291 | AGL | c.567_570del (p.Asn189LysfsTer11) n.778_781del c.519_522del (p.Asn173LysfsTer11) c.516_519del (p.Asn172LysfsTer11) | |
| 1 | g.99864492T>A | CA341335853 | AGL | c.567T>A (p.Asn189Lys) n.778T>A c.519T>A (p.Asn173Lys) c.516T>A (p.Asn172Lys) | |
| 1 | g.99864492T>C | CA419096187 | AGL | c.567T>C (p.Asn189=) n.778T>C c.519T>C (p.Asn173=) c.516T>C (p.Asn172=) | gnomAD v4 |
| 1 | g.99864492T>G | CA341335852 | AGL | c.567T>G (p.Asn189Lys) n.778T>G c.519T>G (p.Asn173Lys) c.516T>G (p.Asn172Lys) | |
| 1 | g.99864492dup | CA1139656237 | AGL | c.567dup (p.Arg190Ter) n.778dup c.519dup (p.Arg174Ter) c.516dup (p.Arg173Ter) | ClinVar dbSNP |
| 1 | g.99864493A>C | CA419096188 | AGL | c.568A>C (p.Arg190=) n.779A>C c.520A>C (p.Arg174=) c.517A>C (p.Arg173=) | |
| 1 | g.99864493A>G | CA341335855 | AGL | c.568A>G (p.Arg190Gly) n.779A>G c.520A>G (p.Arg174Gly) c.517A>G (p.Arg173Gly) | |
| 1 | g.99864493A>T | CA341335858 | AGL | c.568A>T (p.Arg190Ter) n.779A>T c.520A>T (p.Arg174Ter) c.517A>T (p.Arg173Ter) | |
| 1 | g.99864494G>A | CA341335860 | AGL | c.569G>A (p.Arg190Lys) n.780G>A c.521G>A (p.Arg174Lys) c.518G>A (p.Arg173Lys) | |
| 1 | g.99864494G>C | CA341335862 | AGL | c.569G>C (p.Arg190Thr) n.780G>C c.521G>C (p.Arg174Thr) c.518G>C (p.Arg173Thr) | dbSNP |
| 1 | g.99864494G= | CA1183926486 | AGL | c.569G= (p.Arg190=) n.780G= c.521G= (p.Arg174=) c.518G= (p.Arg173=) | |
| 1 | g.99864494G>T | CA341335864 | AGL | c.569G>T (p.Arg190Ile) n.780G>T c.521G>T (p.Arg174Ile) c.518G>T (p.Arg173Ile) | |
| 1 | g.99864494_99864495insGA | CA2646736100 | AGL | c.569_570insGA (p.Tyr192SerfsTer10) n.780_781insGA c.521_522insGA (p.Tyr176SerfsTer10) c.518_519insGA (p.Tyr175SerfsTer10) | gnomAD v4 |
| 1 | g.99864495A>C | CA341335880 | AGL | c.570A>C (p.Arg190Ser) n.781A>C c.522A>C (p.Arg174Ser) c.519A>C (p.Arg173Ser) | |
| 1 | g.99864495A>G | CA419096193 | AGL | c.570A>G (p.Arg190=) n.781A>G c.522A>G (p.Arg174=) c.519A>G (p.Arg173=) | ClinVar |
| 1 | g.99864495A>T | CA341335887 | AGL | c.570A>T (p.Arg190Ser) n.781A>T c.522A>T (p.Arg174Ser) c.519A>T (p.Arg173Ser) | |
| 1 | g.99864496A>C | CA341335890 | AGL | c.571A>C (p.Lys191Gln) n.782A>C c.523A>C (p.Lys175Gln) c.520A>C (p.Lys174Gln) | |
| 1 | g.99864496A>G | CA341335892 | AGL | c.571A>G (p.Lys191Glu) n.782A>G c.523A>G (p.Lys175Glu) c.520A>G (p.Lys174Glu) | gnomAD v4 |
| 1 | g.99864496A>T | CA341335895 | AGL | c.571A>T (p.Lys191Ter) n.782A>T c.523A>T (p.Lys175Ter) c.520A>T (p.Lys174Ter) | |
| 1 | g.99864497A= | CA1183926487 | AGL | c.572A= (p.Lys191=) n.783A= c.524A= (p.Lys175=) c.521A= (p.Lys174=) | |
| 1 | g.99864497A>C | CA341335906 | AGL | c.572A>C (p.Lys191Thr) n.783A>C c.524A>C (p.Lys175Thr) c.521A>C (p.Lys174Thr) | |
| 1 | g.99864497A>G | CA341335910 | AGL | c.572A>G (p.Lys191Arg) n.783A>G c.524A>G (p.Lys175Arg) c.521A>G (p.Lys174Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99864497A>T | CA341335919 | AGL | c.572A>T (p.Lys191Met) n.783A>T c.524A>T (p.Lys175Met) c.521A>T (p.Lys174Met) | |
| 1 | g.99864498G>A | CA966210 | AGL | c.573G>A (p.Lys191=) n.784G>A c.525G>A (p.Lys175=) c.522G>A (p.Lys174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99864498G>C | CA966209 | AGL | c.573G>C (p.Lys191Asn) n.784G>C c.525G>C (p.Lys175Asn) c.522G>C (p.Lys174Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99864498G= | CA1183926494 | AGL | c.573G= (p.Lys191=) n.784G= c.525G= (p.Lys175=) c.522G= (p.Lys174=) | |
| 1 | g.99864498G>T | CA341335925 | AGL | c.573G>T (p.Lys191Asn) n.784G>T c.525G>T (p.Lys175Asn) c.522G>T (p.Lys174Asn) | |
| 1 | g.99864499T>A | CA341335928 | AGL | c.574T>A (p.Tyr192Asn) n.785T>A c.526T>A (p.Tyr176Asn) c.523T>A (p.Tyr175Asn) | |
| 1 | g.99864499T>C | CA341335932 | AGL | c.574T>C (p.Tyr192His) n.785T>C c.526T>C (p.Tyr176His) c.523T>C (p.Tyr175His) | |
| 1 | g.99864499T>G | CA341335937 | AGL | c.574T>G (p.Tyr192Asp) n.785T>G c.526T>G (p.Tyr176Asp) c.523T>G (p.Tyr175Asp) | |
| 1 | g.99864500A= | CA1183926498 | AGL | c.575A= (p.Tyr192=) n.786A= c.527A= (p.Tyr176=) c.524A= (p.Tyr175=) | |
| 1 | g.99864500A>C | CA341335940 | AGL | c.575A>C (p.Tyr192Ser) n.786A>C c.527A>C (p.Tyr176Ser) c.524A>C (p.Tyr175Ser) | gnomAD v4 |
| 1 | g.99864500A>G | CA341335941 | AGL | c.575A>G (p.Tyr192Cys) n.786A>G c.527A>G (p.Tyr176Cys) c.524A>G (p.Tyr175Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99864500A>T | CA341335942 | AGL | c.575A>T (p.Tyr192Phe) n.786A>T c.527A>T (p.Tyr176Phe) c.524A>T (p.Tyr175Phe) | |
| 1 | g.99864501T>A | CA341335944 | AGL | c.576T>A (p.Tyr192Ter) n.787T>A c.528T>A (p.Tyr176Ter) c.525T>A (p.Tyr175Ter) | |
| 1 | g.99864501T>C | CA419096196 | AGL | c.576T>C (p.Tyr192=) n.787T>C c.528T>C (p.Tyr176=) c.525T>C (p.Tyr175=) | gnomAD v4 |
| 1 | g.99864501T>G | CA341335951 | AGL | c.576T>G (p.Tyr192Ter) n.787T>G c.528T>G (p.Tyr176Ter) c.525T>G (p.Tyr175Ter) | ClinVar dbSNP |
| 1 | g.99864501T= | CA1183926500 | AGL | c.576T= (p.Tyr192=) n.787T= c.528T= (p.Tyr176=) c.525T= (p.Tyr175=) | |
| 1 | g.99864502A>C | CA341335956 | AGL | c.577A>C (p.Thr193Pro) n.788A>C c.529A>C (p.Thr177Pro) c.526A>C (p.Thr176Pro) | |
| 1 | g.99864502A>G | CA341335958 | AGL | c.577A>G (p.Thr193Ala) n.788A>G c.529A>G (p.Thr177Ala) c.526A>G (p.Thr176Ala) | COSMIC COSMIC |
| 1 | g.99864502A>T | CA341335960 | AGL | c.577A>T (p.Thr193Ser) n.788A>T c.529A>T (p.Thr177Ser) c.526A>T (p.Thr176Ser) | |
| 1 | g.99864503C>A | CA341335971 | AGL | c.578C>A (p.Thr193Asn) n.789C>A c.530C>A (p.Thr177Asn) c.527C>A (p.Thr176Asn) | gnomAD v4 |
| 1 | g.99864503C= | CA1183926502 | AGL | c.578C= (p.Thr193=) n.789C= c.530C= (p.Thr177=) c.527C= (p.Thr176=) | |
| 1 | g.99864503C>G | CA341335973 | AGL | c.578C>G (p.Thr193Ser) n.789C>G c.530C>G (p.Thr177Ser) c.527C>G (p.Thr176Ser) | |
| 1 | g.99864503C>T | CA341335987 | AGL | c.578C>T (p.Thr193Ile) n.789C>T c.530C>T (p.Thr177Ile) c.527C>T (p.Thr176Ile) | dbSNP |
| 1 | g.99864504del | CA2573132619 | AGL | c.579del (p.Trp194GlyfsTer7) n.790del c.531del (p.Trp178GlyfsTer7) c.528del (p.Trp177GlyfsTer7) | ClinVar dbSNP |
| 1 | g.99864504C>A | CA419096200 | AGL | c.579C>A (p.Thr193=) n.790C>A c.531C>A (p.Thr177=) c.528C>A (p.Thr176=) | |
| 1 | g.99864504C= | CA1183926504 | AGL | c.579C= (p.Thr193=) n.790C= c.531C= (p.Thr177=) c.528C= (p.Thr176=) | |
| 1 | g.99864504C>G | CA419096199 | AGL | c.579C>G (p.Thr193=) n.790C>G c.531C>G (p.Thr177=) c.528C>G (p.Thr176=) | dbSNP gnomAD v2 |