| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122257266A>C | CA354362755 | CASR | c.371A>C (p.Asn124Thr) c.9+2892A>C (p.=) n.230A>C | |
| 3 | g.122257266A>G | CA354362756 | CASR | c.371A>G (p.Asn124Ser) c.9+2892A>G (p.=) n.230A>G | |
| 3 | g.122257266A>T | CA354362757 | CASR | c.371A>T (p.Asn124Ile) c.9+2892A>T (p.=) n.230A>T | |
| 3 | g.122257267C>A | CA354362758 | CASR | c.372C>A (p.Asn124Lys) c.9+2893C>A (p.=) n.231C>A | |
| 3 | g.122257267C>G | CA354362759 | CASR | c.372C>G (p.Asn124Lys) c.9+2893C>G (p.=) n.231C>G | |
| 3 | g.122257267C>T | CA2569464 | CASR | c.372C>T (p.Asn124=) c.9+2893C>T (p.=) n.231C>T | dbSNP ExAC gnomAD |
| 3 | g.122257268C>A | CA354362760 | CASR | c.373C>A (p.Leu125Ile) c.9+2894C>A (p.=) n.232C>A | |
| 3 | g.122257268C>G | CA354362761 | CASR | c.373C>G (p.Leu125Val) c.9+2894C>G (p.=) n.232C>G | |
| 3 | g.122257268C>T | CA354362762 | CASR | c.373C>T (p.Leu125Phe) c.9+2894C>T (p.=) n.232C>T | |
| 3 | g.122257269T>A | CA354362763 | CASR | c.374T>A (p.Leu125His) c.9+2895T>A (p.=) n.233T>A | |
| 3 | g.122257269T>C | CA119525 | CASR | c.374T>C (p.Leu125Pro) c.9+2895T>C (p.=) n.233T>C | ClinVar dbSNP |
| 3 | g.122257269T>G | CA354362764 | CASR | c.374T>G (p.Leu125Arg) c.9+2895T>G (p.=) n.233T>G | |
| 3 | g.122257270T>A | CA435404096 | CASR | c.375T>A (p.Leu125=) c.9+2896T>A (p.=) n.234T>A | |
| 3 | g.122257270T>C | CA435404097 | CASR | c.375T>C (p.Leu125=) c.9+2896T>C (p.=) n.234T>C | |
| 3 | g.122257270T>G | CA2569465 | CASR | c.375T>G (p.Leu125=) c.9+2896T>G (p.=) n.234T>G | ClinVar dbSNP ExAC |
| 3 | g.122257271G>A | CA354362767 | CASR | c.376G>A (p.Asp126Asn) c.9+2897G>A (p.=) n.235G>A | |
| 3 | g.122257271G>C | CA354362766 | CASR | c.376G>C (p.Asp126His) c.9+2897G>C (p.=) n.235G>C | |
| 3 | g.122257271G>T | CA354362765 | CASR | c.376G>T (p.Asp126Tyr) c.9+2897G>T (p.=) n.235G>T | |
| 3 | g.122257272A>C | CA354362768 | CASR | c.377A>C (p.Asp126Ala) c.9+2898A>C (p.=) n.236A>C | |
| 3 | g.122257272A>G | CA354362769 | CASR | c.377A>G (p.Asp126Gly) c.9+2898A>G (p.=) n.236A>G | |
| 3 | g.122257272A>T | CA354362770 | CASR | c.377A>T (p.Asp126Val) c.9+2898A>T (p.=) n.236A>T | ClinVar |
| 3 | g.122257273T>A | CA354362771 | CASR | c.378T>A (p.Asp126Glu) c.9+2899T>A (p.=) n.237T>A | |
| 3 | g.122257273T>C | CA435404098 | CASR | c.378T>C (p.Asp126=) c.9+2899T>C (p.=) n.237T>C | |
| 3 | g.122257273T>G | CA354362772 | CASR | c.378T>G (p.Asp126Glu) c.9+2899T>G (p.=) n.237T>G | |
| 3 | g.122257274G>A | CA354362773 | CASR | c.379G>A (p.Glu127Lys) c.9+2900G>A (p.=) n.238G>A | ClinVar |
| 3 | g.122257274G>C | CA354362774 | CASR | c.379G>C (p.Glu127Gln) c.9+2900G>C (p.=) n.238G>C | |
| 3 | g.122257274G>T | CA354362775 | CASR | c.379G>T (p.Glu127Ter) c.9+2900G>T (p.=) n.238G>T | |
| 3 | g.122257275A>C | CA119473 | CASR | c.380A>C (p.Glu127Ala) c.9+2901A>C (p.=) n.239A>C | ClinVar dbSNP |
| 3 | g.122257275A>G | CA213599 | CASR | c.380A>G (p.Glu127Gly) c.9+2901A>G (p.=) n.239A>G | ClinVar dbSNP |
| 3 | g.122257275A>T | CA354362776 | CASR | c.380A>T (p.Glu127Val) c.9+2901A>T (p.=) n.239A>T | |
| 3 | g.122257276G>A | CA435404099 | CASR | c.381G>A (p.Glu127=) c.9+2902G>A (p.=) n.240G>A | |
| 3 | g.122257276G>C | CA354362777 | CASR | c.381G>C (p.Glu127Asp) c.9+2902G>C (p.=) n.240G>C | |
| 3 | g.122257276G>T | CA354362778 | CASR | c.381G>T (p.Glu127Asp) c.9+2902G>T (p.=) n.240G>T | |
| 3 | g.122257277T>A | CA354362780 | CASR | c.382T>A (p.Phe128Ile) c.9+2903T>A (p.=) n.241T>A | |
| 3 | g.122257277T>C | CA119489 | CASR | c.382T>C (p.Phe128Leu) c.9+2903T>C (p.=) n.241T>C | ClinVar dbSNP COSMIC |
| 3 | g.122257277T>G | CA354362779 | CASR | c.382T>G (p.Phe128Val) c.9+2903T>G (p.=) n.241T>G | |
| 3 | g.122257278T>A | CA354362781 | CASR | c.383T>A (p.Phe128Tyr) c.9+2904T>A (p.=) n.242T>A | |
| 3 | g.122257278T>C | CA354362782 | CASR | c.383T>C (p.Phe128Ser) c.9+2904T>C (p.=) n.242T>C | |
| 3 | g.122257278T>G | CA354362783 | CASR | c.383T>G (p.Phe128Cys) c.9+2904T>G (p.=) n.242T>G | |
| 3 | g.122257279C>A | CA354362784 | CASR | c.384C>A (p.Phe128Leu) c.9+2905C>A (p.=) n.243C>A | ClinVar |
| 3 | g.122257279C>G | CA354362785 | CASR | c.384C>G (p.Phe128Leu) c.9+2905C>G (p.=) n.243C>G | |
| 3 | g.122257279C>T | CA435404100 | CASR | c.384C>T (p.Phe128=) c.9+2905C>T (p.=) n.243C>T | |
| 3 | g.122257280T>A | CA354362786 | CASR | c.385T>A (p.Cys129Ser) c.9+2906T>A (p.=) n.244T>A | |
| 3 | g.122257280T>C | CA354362787 | CASR | c.385T>C (p.Cys129Arg) c.9+2906T>C (p.=) n.244T>C | |
| 3 | g.122257280T>G | CA354362788 | CASR | c.385T>G (p.Cys129Gly) c.9+2906T>G (p.=) n.244T>G | |
| 3 | g.122257281G>A | CA354362789 | CASR | c.386G>A (p.Cys129Tyr) c.9+2907G>A (p.=) n.245G>A | ClinVar |
| 3 | g.122257281G>C | CA354362790 | CASR | c.386G>C (p.Cys129Ser) c.9+2907G>C (p.=) n.245G>C | |
| 3 | g.122257281G>T | CA354362791 | CASR | c.386G>T (p.Cys129Phe) c.9+2907G>T (p.=) n.245G>T | |
| 3 | g.122257282C>A | CA354362792 | CASR | c.387C>A (p.Cys129Ter) c.9+2908C>A (p.=) n.246C>A | |
| 3 | g.122257282C>G | CA354362793 | CASR | c.387C>G (p.Cys129Trp) c.9+2908C>G (p.=) n.246C>G |