| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261588_122261589delinsCG | CA1397872881 | CASR | c.553_554delinsCG (p.Arg185=) c.70_71delinsCG (p.Arg24=) c.-36_-35delinsCG (n.-36_-35delinsCG) | |
| 3 | g.122261589del | CA213603 | CASR | c.554del (p.Arg185GlnfsTer?) c.71del (p.Arg24GlnfsTer?) c.-35del (n.-35del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261589G>A | CA119471 | CASR | c.554G>A (p.Arg185Gln) c.71G>A (p.Arg24Gln) c.-35G>A (n.-35G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122261589G>C | CA354150836 | CASR | c.554G>C (p.Arg185Pro) c.71G>C (p.Arg24Pro) c.-35G>C (n.-35G>C) | ClinVar dbSNP |
| 3 | g.122261589G= | CA1397872884 | CASR | c.554G= (p.Arg185=) c.71G= (p.Arg24=) c.-35G= (n.-35G=) | |
| 3 | g.122261589G>T | CA354150837 | CASR | c.554G>T (p.Arg185Leu) c.71G>T (p.Arg24Leu) c.-35G>T (n.-35G>T) | ClinVar dbSNP |
| 3 | g.122261590A= | CA1397872887 | CASR | c.555A= (p.Arg185=) c.72A= (p.Arg24=) c.-34A= (n.-34A=) | |
| 3 | g.122261590A>C | CA435424316 | CASR | c.555A>C (p.Arg185=) c.72A>C (p.Arg24=) c.-34A>C (n.-34A>C) | |
| 3 | g.122261590A>G | CA435424318 | CASR | c.555A>G (p.Arg185=) c.72A>G (p.Arg24=) c.-34A>G (n.-34A>G) | |
| 3 | g.122261590A>T | CA435424320 | CASR | c.555A>T (p.Arg185=) c.72A>T (p.Arg24=) c.-34A>T (n.-34A>T) | ClinVar dbSNP |
| 3 | g.122261591A>C | CA354150838 | CASR | c.556A>C (p.Thr186Pro) c.73A>C (p.Thr25Pro) c.-33A>C (n.-33A>C) | |
| 3 | g.122261591A>G | CA354150839 | CASR | c.556A>G (p.Thr186Ala) c.73A>G (p.Thr25Ala) c.-33A>G (n.-33A>G) | |
| 3 | g.122261591A>T | CA354150840 | CASR | c.556A>T (p.Thr186Ser) c.73A>T (p.Thr25Ser) c.-33A>T (n.-33A>T) | gnomAD v4 |
| 3 | g.122261592C>A | CA354150841 | CASR | c.557C>A (p.Thr186Asn) c.74C>A (p.Thr25Asn) c.-32C>A (n.-32C>A) | |
| 3 | g.122261592C>G | CA354150842 | CASR | c.557C>G (p.Thr186Ser) c.74C>G (p.Thr25Ser) c.-32C>G (n.-32C>G) | |
| 3 | g.122261592C>T | CA354150843 | CASR | c.557C>T (p.Thr186Ile) c.74C>T (p.Thr25Ile) c.-32C>T (n.-32C>T) | |
| 3 | g.122261593C>A | CA435424327 | CASR | c.558C>A (p.Thr186=) c.75C>A (p.Thr25=) c.-31C>A (n.-31C>A) | dbSNP gnomAD v2 COSMIC |
| 3 | g.122261593C= | CA1397872888 | CASR | c.558C= (p.Thr186=) c.75C= (p.Thr25=) c.-31C= (n.-31C=) | |
| 3 | g.122261593C>G | CA435424326 | CASR | c.558C>G (p.Thr186=) c.75C>G (p.Thr25=) c.-31C>G (n.-31C>G) | |
| 3 | g.122261593C>T | CA435424325 | CASR | c.558C>T (p.Thr186=) c.75C>T (p.Thr25=) c.-31C>T (n.-31C>T) | ClinVar |
| 3 | g.122261594A>C | CA354150844 | CASR | c.559A>C (p.Ile187Leu) c.76A>C (p.Ile26Leu) c.-30A>C (n.-30A>C) | |
| 3 | g.122261594A>G | CA354150845 | CASR | c.559A>G (p.Ile187Val) c.76A>G (p.Ile26Val) c.-30A>G (n.-30A>G) | |
| 3 | g.122261594A>T | CA354150846 | CASR | c.559A>T (p.Ile187Phe) c.76A>T (p.Ile26Phe) c.-30A>T (n.-30A>T) | |
| 3 | g.122261595T>A | CA354150847 | CASR | c.560T>A (p.Ile187Asn) c.77T>A (p.Ile26Asn) c.-29T>A (n.-29T>A) | ClinVar dbSNP |
| 3 | g.122261595T>C | CA2569507 | CASR | c.560T>C (p.Ile187Thr) c.77T>C (p.Ile26Thr) c.-29T>C (n.-29T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261595T>G | CA354150848 | CASR | c.560T>G (p.Ile187Ser) c.77T>G (p.Ile26Ser) c.-29T>G (n.-29T>G) | |
| 3 | g.122261595T= | CA1397872890 | CASR | c.560T= (p.Ile187=) c.77T= (p.Ile26=) c.-29T= (n.-29T=) | |
| 3 | g.122261596C>A | CA435424332 | CASR | c.561C>A (p.Ile187=) c.78C>A (p.Ile26=) c.-28C>A (n.-28C>A) | |
| 3 | g.122261596C>G | CA354150849 | CASR | c.561C>G (p.Ile187Met) c.78C>G (p.Ile26Met) c.-28C>G (n.-28C>G) | |
| 3 | g.122261596C>T | CA435424333 | CASR | c.561C>T (p.Ile187=) c.78C>T (p.Ile26=) c.-28C>T (n.-28C>T) | gnomAD v4 |
| 3 | g.122261597C>A | CA354150850 | CASR | c.562C>A (p.Pro188Thr) c.79C>A (p.Pro27Thr) c.-27C>A (n.-27C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261597C= | CA1397872892 | CASR | c.562C= (p.Pro188=) c.79C= (p.Pro27=) c.-27C= (n.-27C=) | |
| 3 | g.122261597C>G | CA354150851 | CASR | c.562C>G (p.Pro188Ala) c.79C>G (p.Pro27Ala) c.-27C>G (n.-27C>G) | |
| 3 | g.122261597C>T | CA2569508 | CASR | c.562C>T (p.Pro188Ser) c.79C>T (p.Pro27Ser) c.-27C>T (n.-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261598C>A | CA354150852 | CASR | c.563C>A (p.Pro188His) c.80C>A (p.Pro27His) c.-26C>A (n.-26C>A) | |
| 3 | g.122261598C>G | CA354150853 | CASR | c.563C>G (p.Pro188Arg) c.80C>G (p.Pro27Arg) c.-26C>G (n.-26C>G) | |
| 3 | g.122261598C>T | CA354150854 | CASR | c.563C>T (p.Pro188Leu) c.80C>T (p.Pro27Leu) c.-26C>T (n.-26C>T) | |
| 3 | g.122261599C>A | CA435424336 | CASR | c.564C>A (p.Pro188=) c.81C>A (p.Pro27=) c.-25C>A (n.-25C>A) | ClinVar |
| 3 | g.122261599C>G | CA435424337 | CASR | c.564C>G (p.Pro188=) c.81C>G (p.Pro27=) c.-25C>G (n.-25C>G) | |
| 3 | g.122261599C>T | CA435424338 | CASR | c.564C>T (p.Pro188=) c.81C>T (p.Pro27=) c.-25C>T (n.-25C>T) | |
| 3 | g.122261600A>C | CA354150855 | CASR | c.565A>C (p.Asn189His) c.82A>C (p.Asn28His) c.-24A>C (n.-24A>C) | ClinVar dbSNP |
| 3 | g.122261600A>G | CA354150856 | CASR | c.565A>G (p.Asn189Asp) c.82A>G (p.Asn28Asp) c.-24A>G (n.-24A>G) | |
| 3 | g.122261600A>T | CA354150857 | CASR | c.565A>T (p.Asn189Tyr) c.82A>T (p.Asn28Tyr) c.-24A>T (n.-24A>T) | |
| 3 | g.122261601A= | CA1397872895 | CASR | c.566A= (p.Asn189=) c.83A= (p.Asn28=) c.-23A= (n.-23A=) | |
| 3 | g.122261601A>C | CA354150859 | CASR | c.566A>C (p.Asn189Thr) c.83A>C (p.Asn28Thr) c.-23A>C (n.-23A>C) | gnomAD v4 |
| 3 | g.122261601A>G | CA2569509 | CASR | c.566A>G (p.Asn189Ser) c.83A>G (p.Asn28Ser) c.-23A>G (n.-23A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261601A>T | CA354150858 | CASR | c.566A>T (p.Asn189Ile) c.83A>T (p.Asn28Ile) c.-23A>T (n.-23A>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261601_122261602delinsTC | CA2580068626 | CASR | c.566_567delinsTC (p.Asn189Ile) c.83_84delinsTC (p.Asn28Ile) c.-23_-22delinsTC (n.-23_-22delinsTC) | ClinVar |
| 3 | g.122261602T>A | CA354150861 | CASR | c.567T>A (p.Asn189Lys) c.84T>A (p.Asn28Lys) c.-22T>A (n.-22T>A) | |
| 3 | g.122261602T>C | CA435424343 | CASR | c.567T>C (p.Asn189=) c.84T>C (p.Asn28=) c.-22T>C (n.-22T>C) | ClinVar dbSNP gnomAD v4 |