Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122262218T>A | CA354152766 | CASR | c.1183T>A (p.Cys395Ser) c.700T>A (p.Cys234Ser) c.595T>A (p.Cys199Ser) | |
3 | g.122262218T>C | CA16042449 | CASR | c.1183T>C (p.Cys395Arg) c.700T>C (p.Cys234Arg) c.595T>C (p.Cys199Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122262218T>G | CA354152767 | CASR | c.1183T>G (p.Cys395Gly) c.700T>G (p.Cys234Gly) c.595T>G (p.Cys199Gly) | |
3 | g.122262218T= | CA1397873651 | CASR | c.1183T= (p.Cys395=) c.700T= (p.Cys234=) c.595T= (p.Cys199=) | |
3 | g.122262219G>A | CA354152768 | CASR | c.1184G>A (p.Cys395Tyr) c.701G>A (p.Cys234Tyr) c.596G>A (p.Cys199Tyr) | |
3 | g.122262219G>C | CA354152769 | CASR | c.1184G>C (p.Cys395Ser) c.701G>C (p.Cys234Ser) c.596G>C (p.Cys199Ser) | |
3 | g.122262219G>T | CA354152770 | CASR | c.1184G>T (p.Cys395Phe) c.701G>T (p.Cys234Phe) c.596G>T (p.Cys199Phe) | COSMIC |
3 | g.122262220T>A | CA354152771 | CASR | c.1185T>A (p.Cys395Ter) c.702T>A (p.Cys234Ter) c.597T>A (p.Cys199Ter) | |
3 | g.122262220T>C | CA435424644 | CASR | c.1185T>C (p.Cys395=) c.702T>C (p.Cys234=) c.597T>C (p.Cys199=) | |
3 | g.122262220T>G | CA354152772 | CASR | c.1185T>G (p.Cys395Trp) c.702T>G (p.Cys234Trp) c.597T>G (p.Cys199Trp) | gnomAD v4 |
3 | g.122262221A>C | CA354152773 | CASR | c.1186A>C (p.Thr396Pro) c.703A>C (p.Thr235Pro) c.598A>C (p.Thr200Pro) | |
3 | g.122262221A>G | CA354152774 | CASR | c.1186A>G (p.Thr396Ala) c.703A>G (p.Thr235Ala) c.598A>G (p.Thr200Ala) | |
3 | g.122262221A>T | CA354152775 | CASR | c.1186A>T (p.Thr396Ser) c.703A>T (p.Thr235Ser) c.598A>T (p.Thr200Ser) | |
3 | g.122262222C>A | CA354152777 | CASR | c.1187C>A (p.Thr396Lys) c.704C>A (p.Thr235Lys) c.599C>A (p.Thr200Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262222C= | CA1397873657 | CASR | c.1187C= (p.Thr396=) c.704C= (p.Thr235=) c.599C= (p.Thr200=) | |
3 | g.122262222C>G | CA354152778 | CASR | c.1187C>G (p.Thr396Arg) c.704C>G (p.Thr235Arg) c.599C>G (p.Thr200Arg) | ClinVar dbSNP |
3 | g.122262222C>T | CA354152776 | CASR | c.1187C>T (p.Thr396Ile) c.704C>T (p.Thr235Ile) c.599C>T (p.Thr200Ile) | |
3 | g.122262223A= | CA1397873662 | CASR | c.1188A= (p.Thr396=) c.705A= (p.Thr235=) c.600A= (p.Thr200=) | |
3 | g.122262223A>C | CA435424651 | CASR | c.1188A>C (p.Thr396=) c.705A>C (p.Thr235=) c.600A>C (p.Thr200=) | |
3 | g.122262223A>G | CA2569608 | CASR | c.1188A>G (p.Thr396=) c.705A>G (p.Thr235=) c.600A>G (p.Thr200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262223A>T | CA435424652 | CASR | c.1188A>T (p.Thr396=) c.705A>T (p.Thr235=) c.600A>T (p.Thr200=) | |
3 | g.122262224G>A | CA16617817 | CASR | c.1189G>A (p.Gly397Arg) c.706G>A (p.Gly236Arg) c.601G>A (p.Gly201Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262224G>C | CA354152779 | CASR | c.1189G>C (p.Gly397Arg) c.706G>C (p.Gly236Arg) c.601G>C (p.Gly201Arg) | |
3 | g.122262224G= | CA1397873664 | CASR | c.1189G= (p.Gly397=) c.706G= (p.Gly236=) c.601G= (p.Gly201=) | |
3 | g.122262224G>T | CA354152780 | CASR | c.1189G>T (p.Gly397Trp) c.706G>T (p.Gly236Trp) c.601G>T (p.Gly201Trp) | |
3 | g.122262225G>A | CA354152781 | CASR | c.1190G>A (p.Gly397Glu) c.707G>A (p.Gly236Glu) c.602G>A (p.Gly201Glu) | ClinVar dbSNP |
3 | g.122262225G>C | CA354152782 | CASR | c.1190G>C (p.Gly397Ala) c.707G>C (p.Gly236Ala) c.602G>C (p.Gly201Ala) | |
3 | g.122262225G= | CA1397873669 | CASR | c.1190G= (p.Gly397=) c.707G= (p.Gly236=) c.602G= (p.Gly201=) | |
3 | g.122262225G>T | CA354152783 | CASR | c.1190G>T (p.Gly397Val) c.707G>T (p.Gly236Val) c.602G>T (p.Gly201Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262226G>A | CA2569609 | CASR | c.1191G>A (p.Gly397=) c.708G>A (p.Gly236=) c.603G>A (p.Gly201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262226G>C | CA435424657 | CASR | c.1191G>C (p.Gly397=) c.708G>C (p.Gly236=) c.603G>C (p.Gly201=) | |
3 | g.122262226G= | CA1397873671 | CASR | c.1191G= (p.Gly397=) c.708G= (p.Gly236=) c.603G= (p.Gly201=) | |
3 | g.122262226G>T | CA435424656 | CASR | c.1191G>T (p.Gly397=) c.708G>T (p.Gly236=) c.603G>T (p.Gly201=) | gnomAD v4 |
3 | g.122262227G>A | CA216118 | CASR | c.1192G>A (p.Asp398Asn) c.709G>A (p.Asp237Asn) c.604G>A (p.Asp202Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262227G>C | CA354152784 | CASR | c.1192G>C (p.Asp398His) c.709G>C (p.Asp237His) c.604G>C (p.Asp202His) | |
3 | g.122262227G= | CA1397873674 | CASR | c.1192G= (p.Asp398=) c.709G= (p.Asp237=) c.604G= (p.Asp202=) | |
3 | g.122262227G>T | CA354152785 | CASR | c.1192G>T (p.Asp398Tyr) c.709G>T (p.Asp237Tyr) c.604G>T (p.Asp202Tyr) | ClinVar dbSNP |
3 | g.122262228A= | CA1397873680 | CASR | c.1193A= (p.Asp398=) c.710A= (p.Asp237=) c.605A= (p.Asp202=) | |
3 | g.122262228A>C | CA354152786 | CASR | c.1193A>C (p.Asp398Ala) c.710A>C (p.Asp237Ala) c.605A>C (p.Asp202Ala) | |
3 | g.122262228A>G | CA2569610 | CASR | c.1193A>G (p.Asp398Gly) c.710A>G (p.Asp237Gly) c.605A>G (p.Asp202Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262228A>T | CA354152787 | CASR | c.1193A>T (p.Asp398Val) c.710A>T (p.Asp237Val) c.605A>T (p.Asp202Val) | ClinVar dbSNP gnomAD v4 |
3 | g.122262229T>A | CA354152788 | CASR | c.1194T>A (p.Asp398Glu) c.711T>A (p.Asp237Glu) c.606T>A (p.Asp202Glu) | |
3 | g.122262229T>C | CA435424658 | CASR | c.1194T>C (p.Asp398=) c.711T>C (p.Asp237=) c.606T>C (p.Asp202=) | |
3 | g.122262229T>G | CA354152789 | CASR | c.1194T>G (p.Asp398Glu) c.711T>G (p.Asp237Glu) c.606T>G (p.Asp202Glu) | gnomAD v4 |
3 | g.122262230G>A | CA354152790 | CASR | c.1195G>A (p.Glu399Lys) c.712G>A (p.Glu238Lys) c.607G>A (p.Glu203Lys) | |
3 | g.122262230G>C | CA354152791 | CASR | c.1195G>C (p.Glu399Gln) c.712G>C (p.Glu238Gln) c.607G>C (p.Glu203Gln) | |
3 | g.122262230G>T | CA354152792 | CASR | c.1195G>T (p.Glu399Ter) c.712G>T (p.Glu238Ter) c.607G>T (p.Glu203Ter) | |
3 | g.122262231A>C | CA354152793 | CASR | c.1196A>C (p.Glu399Ala) c.713A>C (p.Glu238Ala) c.608A>C (p.Glu203Ala) | |
3 | g.122262231A>G | CA354152794 | CASR | c.1196A>G (p.Glu399Gly) c.713A>G (p.Glu238Gly) c.608A>G (p.Glu203Gly) | |
3 | g.122262231A>T | CA354152795 | CASR | c.1196A>T (p.Glu399Val) c.713A>T (p.Glu238Val) c.608A>T (p.Glu203Val) |