Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122282080C= | CA1397885770 | CASR | c.1378-33C= (n.1378-33C=) c.1609-3C= (n.1609-3C=) c.1609-33C= (n.1609-33C=) c.1126-33C= (n.1126-33C=) c.1021-33C= (n.1021-33C=) | |
3 | g.122282080C>G | CA2667223073 | CASR | c.1378-33C>G (n.1378-33C>G) c.1609-3C>G (n.1609-3C>G) c.1609-33C>G (n.1609-33C>G) c.1126-33C>G (n.1126-33C>G) c.1021-33C>G (n.1021-33C>G) | gnomAD v4 |
3 | g.122282080C>T | CA545962768 | CASR | c.1378-33C>T (n.1378-33C>T) c.1609-3C>T (n.1609-3C>T) c.1609-33C>T (n.1609-33C>T) c.1126-33C>T (n.1126-33C>T) c.1021-33C>T (n.1021-33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282081A>C | CA354156020 | CASR | c.1378-32A>C (n.1378-32A>C) c.1609-2A>C (n.1609-2A>C) c.1609-32A>C (n.1609-32A>C) c.1126-32A>C (n.1126-32A>C) c.1021-32A>C (n.1021-32A>C) | |
3 | g.122282081A>G | CA354156022 | CASR | c.1378-32A>G (n.1378-32A>G) c.1609-2A>G (n.1609-2A>G) c.1609-32A>G (n.1609-32A>G) c.1126-32A>G (n.1126-32A>G) c.1021-32A>G (n.1021-32A>G) | |
3 | g.122282081A>T | CA354156024 | CASR | c.1378-32A>T (n.1378-32A>T) c.1609-2A>T (n.1609-2A>T) c.1609-32A>T (n.1609-32A>T) c.1126-32A>T (n.1126-32A>T) c.1021-32A>T (n.1021-32A>T) | |
3 | g.122282082G>A | CA2569706 | CASR | c.1378-31G>A (n.1378-31G>A) c.1609-1G>A (n.1609-1G>A) c.1609-31G>A (n.1609-31G>A) c.1126-31G>A (n.1126-31G>A) c.1021-31G>A (n.1021-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282082G>C | CA2569705 | CASR | c.1378-31G>C (n.1378-31G>C) c.1609-1G>C (n.1609-1G>C) c.1609-31G>C (n.1609-31G>C) c.1126-31G>C (n.1126-31G>C) c.1021-31G>C (n.1021-31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282082G= | CA1397885771 | CASR | c.1378-31G= (n.1378-31G=) c.1609-1G= (n.1609-1G=) c.1609-31G= (n.1609-31G=) c.1126-31G= (n.1126-31G=) c.1021-31G= (n.1021-31G=) | |
3 | g.122282082G>T | CA354156026 | CASR | c.1378-31G>T (n.1378-31G>T) c.1609-1G>T (n.1609-1G>T) c.1609-31G>T (n.1609-31G>T) c.1126-31G>T (n.1126-31G>T) c.1021-31G>T (n.1021-31G>T) | gnomAD v4 |
3 | g.122282083C>A | CA2569707 | CASR | c.1378-30C>A (n.1378-30C>A) c.1609C>A (p.Pro537Thr) c.1609-30C>A (n.1609-30C>A) c.1126-30C>A (n.1126-30C>A) c.1021-30C>A (n.1021-30C>A) | dbSNP ExAC gnomAD v2 |
3 | g.122282083C= | CA1397885772 | CASR | c.1378-30C= (n.1378-30C=) c.1609C= (p.Pro537=) c.1609-30C= (n.1609-30C=) c.1126-30C= (n.1126-30C=) c.1021-30C= (n.1021-30C=) | |
3 | g.122282083C>G | CA354156030 | CASR | c.1378-30C>G (n.1378-30C>G) c.1609C>G (p.Pro537Ala) c.1609-30C>G (n.1609-30C>G) c.1126-30C>G (n.1126-30C>G) c.1021-30C>G (n.1021-30C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282083C>T | CA354156032 | CASR | c.1378-30C>T (n.1378-30C>T) c.1609C>T (p.Pro537Ser) c.1609-30C>T (n.1609-30C>T) c.1126-30C>T (n.1126-30C>T) c.1021-30C>T (n.1021-30C>T) | dbSNP |
3 | g.122282084C>A | CA354156034 | CASR | c.1378-29C>A (n.1378-29C>A) c.1610C>A (p.Pro537Gln) c.1609-29C>A (n.1609-29C>A) c.1126-29C>A (n.1126-29C>A) c.1021-29C>A (n.1021-29C>A) | |
3 | g.122282084C= | CA1397885773 | CASR | c.1378-29C= (n.1378-29C=) c.1610C= (p.Pro537=) c.1609-29C= (n.1609-29C=) c.1126-29C= (n.1126-29C=) c.1021-29C= (n.1021-29C=) | |
3 | g.122282084C>G | CA354156035 | CASR | c.1378-29C>G (n.1378-29C>G) c.1610C>G (p.Pro537Arg) c.1609-29C>G (n.1609-29C>G) c.1126-29C>G (n.1126-29C>G) c.1021-29C>G (n.1021-29C>G) | |
3 | g.122282084C>T | CA354156037 | CASR | c.1378-29C>T (n.1378-29C>T) c.1610C>T (p.Pro537Leu) c.1609-29C>T (n.1609-29C>T) c.1126-29C>T (n.1126-29C>T) c.1021-29C>T (n.1021-29C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282085_122282090del | CA2667223081 | CASR | c.1378-28_1378-23del (n.1378-28_1378-23del) c.1611_1616del (p.Leu538_Thr539del) c.1609-28_1609-23del (n.1609-28_1609-23del) c.1126-28_1126-23del (n.1126-28_1126-23del) c.1021-28_1021-23del (n.1021-28_1021-23del) | gnomAD v4 |
3 | g.122282085A>C | CA435251434 | CASR | c.1378-28A>C (n.1378-28A>C) c.1611A>C (p.Pro537=) c.1609-28A>C (n.1609-28A>C) c.1126-28A>C (n.1126-28A>C) c.1021-28A>C (n.1021-28A>C) | |
3 | g.122282085A>G | CA435251435 | CASR | c.1378-28A>G (n.1378-28A>G) c.1611A>G (p.Pro537=) c.1609-28A>G (n.1609-28A>G) c.1126-28A>G (n.1126-28A>G) c.1021-28A>G (n.1021-28A>G) | |
3 | g.122282085A>T | CA435251436 | CASR | c.1378-28A>T (n.1378-28A>T) c.1611A>T (p.Pro537=) c.1609-28A>T (n.1609-28A>T) c.1126-28A>T (n.1126-28A>T) c.1021-28A>T (n.1021-28A>T) | |
3 | g.122282086C>A | CA354156039 | CASR | c.1378-27C>A (n.1378-27C>A) c.1612C>A (p.Leu538Ile) c.1609-27C>A (n.1609-27C>A) c.1126-27C>A (n.1126-27C>A) c.1021-27C>A (n.1021-27C>A) | |
3 | g.122282086C= | CA1397885774 | CASR | c.1378-27C= (n.1378-27C=) c.1612C= (p.Leu538=) c.1609-27C= (n.1609-27C=) c.1126-27C= (n.1126-27C=) c.1021-27C= (n.1021-27C=) | |
3 | g.122282086C>G | CA354156041 | CASR | c.1378-27C>G (n.1378-27C>G) c.1612C>G (p.Leu538Val) c.1609-27C>G (n.1609-27C>G) c.1126-27C>G (n.1126-27C>G) c.1021-27C>G (n.1021-27C>G) | |
3 | g.122282086C>T | CA2569708 | CASR | c.1378-27C>T (n.1378-27C>T) c.1612C>T (p.Leu538Phe) c.1609-27C>T (n.1609-27C>T) c.1126-27C>T (n.1126-27C>T) c.1021-27C>T (n.1021-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282087T>A | CA354156043 | CASR | c.1378-26T>A (n.1378-26T>A) c.1613T>A (p.Leu538His) c.1609-26T>A (n.1609-26T>A) c.1126-26T>A (n.1126-26T>A) c.1021-26T>A (n.1021-26T>A) | |
3 | g.122282087T>C | CA354156045 | CASR | c.1378-26T>C (n.1378-26T>C) c.1613T>C (p.Leu538Pro) c.1609-26T>C (n.1609-26T>C) c.1126-26T>C (n.1126-26T>C) c.1021-26T>C (n.1021-26T>C) | |
3 | g.122282087T>G | CA354156047 | CASR | c.1378-26T>G (n.1378-26T>G) c.1613T>G (p.Leu538Arg) c.1609-26T>G (n.1609-26T>G) c.1126-26T>G (n.1126-26T>G) c.1021-26T>G (n.1021-26T>G) | |
3 | g.122282088C>A | CA435251437 | CASR | c.1378-25C>A (n.1378-25C>A) c.1614C>A (p.Leu538=) c.1609-25C>A (n.1609-25C>A) c.1126-25C>A (n.1126-25C>A) c.1021-25C>A (n.1021-25C>A) | |
3 | g.122282088C>G | CA435251438 | CASR | c.1378-25C>G (n.1378-25C>G) c.1614C>G (p.Leu538=) c.1609-25C>G (n.1609-25C>G) c.1126-25C>G (n.1126-25C>G) c.1021-25C>G (n.1021-25C>G) | |
3 | g.122282088C>T | CA435251439 | CASR | c.1378-25C>T (n.1378-25C>T) c.1614C>T (p.Leu538=) c.1609-25C>T (n.1609-25C>T) c.1126-25C>T (n.1126-25C>T) c.1021-25C>T (n.1021-25C>T) | |
3 | g.122282089A>C | CA354156051 | CASR | c.1378-24A>C (n.1378-24A>C) c.1615A>C (p.Thr539Pro) c.1609-24A>C (n.1609-24A>C) c.1126-24A>C (n.1126-24A>C) c.1021-24A>C (n.1021-24A>C) | |
3 | g.122282089A>G | CA354156052 | CASR | c.1378-24A>G (n.1378-24A>G) c.1615A>G (p.Thr539Ala) c.1609-24A>G (n.1609-24A>G) c.1126-24A>G (n.1126-24A>G) c.1021-24A>G (n.1021-24A>G) | |
3 | g.122282089A>T | CA354156049 | CASR | c.1378-24A>T (n.1378-24A>T) c.1615A>T (p.Thr539Ser) c.1609-24A>T (n.1609-24A>T) c.1126-24A>T (n.1126-24A>T) c.1021-24A>T (n.1021-24A>T) | |
3 | g.122282090C>A | CA354156054 | CASR | c.1378-23C>A (n.1378-23C>A) c.1616C>A (p.Thr539Asn) c.1609-23C>A (n.1609-23C>A) c.1126-23C>A (n.1126-23C>A) c.1021-23C>A (n.1021-23C>A) | |
3 | g.122282090C= | CA1397885775 | CASR | c.1378-23C= (n.1378-23C=) c.1616C= (p.Thr539=) c.1609-23C= (n.1609-23C=) c.1126-23C= (n.1126-23C=) c.1021-23C= (n.1021-23C=) | |
3 | g.122282090C>G | CA354156056 | CASR | c.1378-23C>G (n.1378-23C>G) c.1616C>G (p.Thr539Ser) c.1609-23C>G (n.1609-23C>G) c.1126-23C>G (n.1126-23C>G) c.1021-23C>G (n.1021-23C>G) | |
3 | g.122282090C>T | CA2569709 | CASR | c.1378-23C>T (n.1378-23C>T) c.1616C>T (p.Thr539Ile) c.1609-23C>T (n.1609-23C>T) c.1126-23C>T (n.1126-23C>T) c.1021-23C>T (n.1021-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282091C>A | CA435251440 | CASR | c.1378-22C>A (n.1378-22C>A) c.1617C>A (p.Thr539=) c.1609-22C>A (n.1609-22C>A) c.1126-22C>A (n.1126-22C>A) c.1021-22C>A (n.1021-22C>A) | |
3 | g.122282091C>G | CA435251441 | CASR | c.1378-22C>G (n.1378-22C>G) c.1617C>G (p.Thr539=) c.1609-22C>G (n.1609-22C>G) c.1126-22C>G (n.1126-22C>G) c.1021-22C>G (n.1021-22C>G) | |
3 | g.122282091C>T | CA435251442 | CASR | c.1378-22C>T (n.1378-22C>T) c.1617C>T (p.Thr539=) c.1609-22C>T (n.1609-22C>T) c.1126-22C>T (n.1126-22C>T) c.1021-22C>T (n.1021-22C>T) | |
3 | g.122282092T>A | CA354156058 | CASR | c.1378-21T>A (n.1378-21T>A) c.1618T>A (p.Phe540Ile) c.1609-21T>A (n.1609-21T>A) c.1126-21T>A (n.1126-21T>A) c.1021-21T>A (n.1021-21T>A) | |
3 | g.122282092T>C | CA2569710 | CASR | c.1378-21T>C (n.1378-21T>C) c.1618T>C (p.Phe540Leu) c.1609-21T>C (n.1609-21T>C) c.1126-21T>C (n.1126-21T>C) c.1021-21T>C (n.1021-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282092T>G | CA354156061 | CASR | c.1378-21T>G (n.1378-21T>G) c.1618T>G (p.Phe540Val) c.1609-21T>G (n.1609-21T>G) c.1126-21T>G (n.1126-21T>G) c.1021-21T>G (n.1021-21T>G) | |
3 | g.122282092T= | CA1397885776 | CASR | c.1378-21T= (n.1378-21T=) c.1618T= (p.Phe540=) c.1609-21T= (n.1609-21T=) c.1126-21T= (n.1126-21T=) c.1021-21T= (n.1021-21T=) | |
3 | g.122282093T>A | CA354156067 | CASR | c.1378-20T>A (n.1378-20T>A) c.1619T>A (p.Phe540Tyr) c.1609-20T>A (n.1609-20T>A) c.1126-20T>A (n.1126-20T>A) c.1021-20T>A (n.1021-20T>A) | |
3 | g.122282093T>C | CA354156063 | CASR | c.1378-20T>C (n.1378-20T>C) c.1619T>C (p.Phe540Ser) c.1609-20T>C (n.1609-20T>C) c.1126-20T>C (n.1126-20T>C) c.1021-20T>C (n.1021-20T>C) | gnomAD v4 |
3 | g.122282093T>G | CA354156064 | CASR | c.1378-20T>G (n.1378-20T>G) c.1619T>G (p.Phe540Cys) c.1609-20T>G (n.1609-20T>G) c.1126-20T>G (n.1126-20T>G) c.1021-20T>G (n.1021-20T>G) | |
3 | g.122282094T>A | CA354156069 | CASR | c.1378-19T>A (n.1378-19T>A) c.1620T>A (p.Phe540Leu) c.1609-19T>A (n.1609-19T>A) c.1126-19T>A (n.1126-19T>A) c.1021-19T>A (n.1021-19T>A) | |
3 | g.122282094T>C | CA435251443 | CASR | c.1378-19T>C (n.1378-19T>C) c.1620T>C (p.Phe540=) c.1609-19T>C (n.1609-19T>C) c.1126-19T>C (n.1126-19T>C) c.1021-19T>C (n.1021-19T>C) | gnomAD v4 |
3 | g.122282094T>G | CA354156070 | CASR | c.1378-19T>G (n.1378-19T>G) c.1620T>G (p.Phe540Leu) c.1609-19T>G (n.1609-19T>G) c.1126-19T>G (n.1126-19T>G) c.1021-19T>G (n.1021-19T>G) | |
3 | g.122282095G>A | CA354156073 | CASR | c.1378-18G>A (n.1378-18G>A) c.1621G>A (p.Val541Met) c.1609-18G>A (n.1609-18G>A) c.1126-18G>A (n.1126-18G>A) c.1021-18G>A (n.1021-18G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282095G>C | CA354156075 | CASR | c.1378-18G>C (n.1378-18G>C) c.1621G>C (p.Val541Leu) c.1609-18G>C (n.1609-18G>C) c.1126-18G>C (n.1126-18G>C) c.1021-18G>C (n.1021-18G>C) | |
3 | g.122282095G= | CA1397885777 | CASR | c.1378-18G= (n.1378-18G=) c.1621G= (p.Val541=) c.1609-18G= (n.1609-18G=) c.1126-18G= (n.1126-18G=) c.1021-18G= (n.1021-18G=) | |
3 | g.122282095G>T | CA354156076 | CASR | c.1378-18G>T (n.1378-18G>T) c.1621G>T (p.Val541Leu) c.1609-18G>T (n.1609-18G>T) c.1126-18G>T (n.1126-18G>T) c.1021-18G>T (n.1021-18G>T) | |
3 | g.122282096T>A | CA354156077 | CASR | c.1378-17T>A (n.1378-17T>A) c.1622T>A (p.Val541Glu) c.1609-17T>A (n.1609-17T>A) c.1126-17T>A (n.1126-17T>A) c.1021-17T>A (n.1021-17T>A) | |
3 | g.122282096T>C | CA354156079 | CASR | c.1378-17T>C (n.1378-17T>C) c.1622T>C (p.Val541Ala) c.1609-17T>C (n.1609-17T>C) c.1126-17T>C (n.1126-17T>C) c.1021-17T>C (n.1021-17T>C) | |
3 | g.122282096T>G | CA354156078 | CASR | c.1378-17T>G (n.1378-17T>G) c.1622T>G (p.Val541Gly) c.1609-17T>G (n.1609-17T>G) c.1126-17T>G (n.1126-17T>G) c.1021-17T>G (n.1021-17T>G) | dbSNP |
3 | g.122282096T= | CA1397885778 | CASR | c.1378-17T= (n.1378-17T=) c.1622T= (p.Val541=) c.1609-17T= (n.1609-17T=) c.1126-17T= (n.1126-17T=) c.1021-17T= (n.1021-17T=) | |
3 | g.122282097G>A | CA435251446 | CASR | c.1378-16G>A (n.1378-16G>A) c.1623G>A (p.Val541=) c.1609-16G>A (n.1609-16G>A) c.1126-16G>A (n.1126-16G>A) c.1021-16G>A (n.1021-16G>A) | |
3 | g.122282097G>C | CA435251444 | CASR | c.1378-16G>C (n.1378-16G>C) c.1623G>C (p.Val541=) c.1609-16G>C (n.1609-16G>C) c.1126-16G>C (n.1126-16G>C) c.1021-16G>C (n.1021-16G>C) | |
3 | g.122282097G>T | CA435251445 | CASR | c.1378-16G>T (n.1378-16G>T) c.1623G>T (p.Val541=) c.1609-16G>T (n.1609-16G>T) c.1126-16G>T (n.1126-16G>T) c.1021-16G>T (n.1021-16G>T) | |
3 | g.122282098C>A | CA354156080 | CASR | c.1378-15C>A (n.1378-15C>A) c.1624C>A (p.Leu542Met) c.1609-15C>A (n.1609-15C>A) c.1126-15C>A (n.1126-15C>A) c.1021-15C>A (n.1021-15C>A) | |
3 | g.122282098C>G | CA354156081 | CASR | c.1378-15C>G (n.1378-15C>G) c.1624C>G (p.Leu542Val) c.1609-15C>G (n.1609-15C>G) c.1126-15C>G (n.1126-15C>G) c.1021-15C>G (n.1021-15C>G) | |
3 | g.122282098C>T | CA435251447 | CASR | c.1378-15C>T (n.1378-15C>T) c.1624C>T (p.Leu542=) c.1609-15C>T (n.1609-15C>T) c.1126-15C>T (n.1126-15C>T) c.1021-15C>T (n.1021-15C>T) | |
3 | g.122282099T>A | CA354156082 | CASR | c.1378-14T>A (n.1378-14T>A) c.1625T>A (p.Leu542Gln) c.1609-14T>A (n.1609-14T>A) c.1126-14T>A (n.1126-14T>A) c.1021-14T>A (n.1021-14T>A) | |
3 | g.122282099T>C | CA354156084 | CASR | c.1378-14T>C (n.1378-14T>C) c.1625T>C (p.Leu542Pro) c.1609-14T>C (n.1609-14T>C) c.1126-14T>C (n.1126-14T>C) c.1021-14T>C (n.1021-14T>C) | |
3 | g.122282099T>G | CA354156083 | CASR | c.1378-14T>G (n.1378-14T>G) c.1625T>G (p.Leu542Arg) c.1609-14T>G (n.1609-14T>G) c.1126-14T>G (n.1126-14T>G) c.1021-14T>G (n.1021-14T>G) | |
3 | g.122282100G>A | CA435251448 | CASR | c.1378-13G>A (n.1378-13G>A) c.1626G>A (p.Leu542=) c.1609-13G>A (n.1609-13G>A) c.1126-13G>A (n.1126-13G>A) c.1021-13G>A (n.1021-13G>A) | ClinVar dbSNP gnomAD v4 |
3 | g.122282100G>C | CA435251450 | CASR | c.1378-13G>C (n.1378-13G>C) c.1626G>C (p.Leu542=) c.1609-13G>C (n.1609-13G>C) c.1126-13G>C (n.1126-13G>C) c.1021-13G>C (n.1021-13G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122282100G= | CA1397885779 | CASR | c.1378-13G= (n.1378-13G=) c.1626G= (p.Leu542=) c.1609-13G= (n.1609-13G=) c.1126-13G= (n.1126-13G=) c.1021-13G= (n.1021-13G=) | |
3 | g.122282100G>T | CA435251449 | CASR | c.1378-13G>T (n.1378-13G>T) c.1626G>T (p.Leu542=) c.1609-13G>T (n.1609-13G>T) c.1126-13G>T (n.1126-13G>T) c.1021-13G>T (n.1021-13G>T) | |
3 | g.122282101T>A | CA354156085 | CASR | c.1378-12T>A (n.1378-12T>A) c.1627T>A (p.Ser543Thr) c.1609-12T>A (n.1609-12T>A) c.1126-12T>A (n.1126-12T>A) c.1021-12T>A (n.1021-12T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122282101T>C | CA354156086 | CASR | c.1378-12T>C (n.1378-12T>C) c.1627T>C (p.Ser543Pro) c.1609-12T>C (n.1609-12T>C) c.1126-12T>C (n.1126-12T>C) c.1021-12T>C (n.1021-12T>C) | |
3 | g.122282101T>G | CA354156087 | CASR | c.1378-12T>G (n.1378-12T>G) c.1627T>G (p.Ser543Ala) c.1609-12T>G (n.1609-12T>G) c.1126-12T>G (n.1126-12T>G) c.1021-12T>G (n.1021-12T>G) | |
3 | g.122282101T= | CA1397885780 | CASR | c.1378-12T= (n.1378-12T=) c.1627T= (p.Ser543=) c.1609-12T= (n.1609-12T=) c.1126-12T= (n.1126-12T=) c.1021-12T= (n.1021-12T=) | |
3 | g.122282102C>A | CA354156088 | CASR | c.1378-11C>A (n.1378-11C>A) c.1628C>A (p.Ser543Tyr) c.1609-11C>A (n.1609-11C>A) c.1126-11C>A (n.1126-11C>A) c.1021-11C>A (n.1021-11C>A) | |
3 | g.122282102C= | CA1397885781 | CASR | c.1378-11C= (n.1378-11C=) c.1628C= (p.Ser543=) c.1609-11C= (n.1609-11C=) c.1126-11C= (n.1126-11C=) c.1021-11C= (n.1021-11C=) | |
3 | g.122282102C>G | CA354156089 | CASR | c.1378-11C>G (n.1378-11C>G) c.1628C>G (p.Ser543Cys) c.1609-11C>G (n.1609-11C>G) c.1126-11C>G (n.1126-11C>G) c.1021-11C>G (n.1021-11C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282102C>T | CA2569711 | CASR | c.1378-11C>T (n.1378-11C>T) c.1628C>T (p.Ser543Phe) c.1609-11C>T (n.1609-11C>T) c.1126-11C>T (n.1126-11C>T) c.1021-11C>T (n.1021-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282103T>A | CA435251451 | CASR | c.1378-10T>A (n.1378-10T>A) c.1629T>A (p.Ser543=) c.1609-10T>A (n.1609-10T>A) c.1126-10T>A (n.1126-10T>A) c.1021-10T>A (n.1021-10T>A) | |
3 | g.122282103T>C | CA435251452 | CASR | c.1378-10T>C (n.1378-10T>C) c.1629T>C (p.Ser543=) c.1609-10T>C (n.1609-10T>C) c.1126-10T>C (n.1126-10T>C) c.1021-10T>C (n.1021-10T>C) | |
3 | g.122282103T>G | CA435251453 | CASR | c.1378-10T>G (n.1378-10T>G) c.1629T>G (p.Ser543=) c.1609-10T>G (n.1609-10T>G) c.1126-10T>G (n.1126-10T>G) c.1021-10T>G (n.1021-10T>G) | ClinVar dbSNP |
3 | g.122282103T= | CA1397885782 | CASR | c.1378-10T= (n.1378-10T=) c.1629T= (p.Ser543=) c.1609-10T= (n.1609-10T=) c.1126-10T= (n.1126-10T=) c.1021-10T= (n.1021-10T=) | |
3 | g.122282104G>A | CA354156090 | CASR | c.1378-9G>A (n.1378-9G>A) c.1630G>A (p.Val544Ile) c.1609-9G>A (n.1609-9G>A) c.1126-9G>A (n.1126-9G>A) c.1021-9G>A (n.1021-9G>A) | gnomAD v4 |
3 | g.122282104G>C | CA354156091 | CASR | c.1378-9G>C (n.1378-9G>C) c.1630G>C (p.Val544Leu) c.1609-9G>C (n.1609-9G>C) c.1126-9G>C (n.1126-9G>C) c.1021-9G>C (n.1021-9G>C) | |
3 | g.122282104G>T | CA354156092 | CASR | c.1378-9G>T (n.1378-9G>T) c.1630G>T (p.Val544Phe) c.1609-9G>T (n.1609-9G>T) c.1126-9G>T (n.1126-9G>T) c.1021-9G>T (n.1021-9G>T) | |
3 | g.122282105T>A | CA354156093 | CASR | c.1378-8T>A (n.1378-8T>A) c.1631T>A (p.Val544Asp) c.1609-8T>A (n.1609-8T>A) c.1126-8T>A (n.1126-8T>A) c.1021-8T>A (n.1021-8T>A) | |
3 | g.122282105T>C | CA354156094 | CASR | c.1378-8T>C (n.1378-8T>C) c.1631T>C (p.Val544Ala) c.1609-8T>C (n.1609-8T>C) c.1126-8T>C (n.1126-8T>C) c.1021-8T>C (n.1021-8T>C) | |
3 | g.122282105T>G | CA354156095 | CASR | c.1378-8T>G (n.1378-8T>G) c.1631T>G (p.Val544Gly) c.1609-8T>G (n.1609-8T>G) c.1126-8T>G (n.1126-8T>G) c.1021-8T>G (n.1021-8T>G) | |
3 | g.122282105_122282106delinsTC | CA1397885783 | CASR | c.1378-8_1378-7delinsTC (n.1378-8_1378-7delinsTC) c.1631_1632delinsTC (p.Val544=) c.1609-8_1609-7delinsTC (n.1609-8_1609-7delinsTC) c.1126-8_1126-7delinsTC (n.1126-8_1126-7delinsTC) c.1021-8_1021-7delinsTC (n.1021-8_1021-7delinsTC) | |
3 | g.122282106C>A | CA435251454 | CASR | c.1378-7C>A (n.1378-7C>A) c.1632C>A (p.Val544=) c.1609-7C>A (n.1609-7C>A) c.1126-7C>A (n.1126-7C>A) c.1021-7C>A (n.1021-7C>A) | |
3 | g.122282106C>G | CA435251455 | CASR | c.1378-7C>G (n.1378-7C>G) c.1632C>G (p.Val544=) c.1609-7C>G (n.1609-7C>G) c.1126-7C>G (n.1126-7C>G) c.1021-7C>G (n.1021-7C>G) | gnomAD v4 |
3 | g.122282106C>T | CA435251456 | CASR | c.1378-7C>T (n.1378-7C>T) c.1632C>T (p.Val544=) c.1609-7C>T (n.1609-7C>T) c.1126-7C>T (n.1126-7C>T) c.1021-7C>T (n.1021-7C>T) | ClinVar |
3 | g.122282107dup | CA2839832391 | CASR | c.1378-6dup (n.1378-6dup) c.1633dup (p.Leu545ProfsTer22) c.1609-6dup (n.1609-6dup) c.1126-6dup (n.1126-6dup) c.1021-6dup (n.1021-6dup) | |
3 | g.122282107del | CA2569712 | CASR | c.1378-6del (n.1378-6del) c.1633del (p.Leu545SerfsTer?) c.1609-6del (n.1609-6del) c.1126-6del (n.1126-6del) c.1021-6del (n.1021-6del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282107C>A | CA354156096 | CASR | c.1378-6C>A (n.1378-6C>A) c.1633C>A (p.Leu545Ile) c.1609-6C>A (n.1609-6C>A) c.1126-6C>A (n.1126-6C>A) c.1021-6C>A (n.1021-6C>A) | |
3 | g.122282107C= | CA1397885784 | CASR | c.1378-6C= (n.1378-6C=) c.1633C= (p.Leu545=) c.1609-6C= (n.1609-6C=) c.1126-6C= (n.1126-6C=) c.1021-6C= (n.1021-6C=) | |
3 | g.122282107C>G | CA354156098 | CASR | c.1378-6C>G (n.1378-6C>G) c.1633C>G (p.Leu545Val) c.1609-6C>G (n.1609-6C>G) c.1126-6C>G (n.1126-6C>G) c.1021-6C>G (n.1021-6C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282107C>T | CA354156097 | CASR | c.1378-6C>T (n.1378-6C>T) c.1633C>T (p.Leu545Phe) c.1609-6C>T (n.1609-6C>T) c.1126-6C>T (n.1126-6C>T) c.1021-6C>T (n.1021-6C>T) | |
3 | g.122282108T>A | CA354156099 | CASR | c.1378-5T>A (n.1378-5T>A) c.1634T>A (p.Leu545His) c.1609-5T>A (n.1609-5T>A) c.1126-5T>A (n.1126-5T>A) c.1021-5T>A (n.1021-5T>A) | |
3 | g.122282108T>C | CA354156100 | CASR | c.1378-5T>C (n.1378-5T>C) c.1634T>C (p.Leu545Pro) c.1609-5T>C (n.1609-5T>C) c.1126-5T>C (n.1126-5T>C) c.1021-5T>C (n.1021-5T>C) | ClinVar |
3 | g.122282108T>G | CA354156101 | CASR | c.1378-5T>G (n.1378-5T>G) c.1634T>G (p.Leu545Arg) c.1609-5T>G (n.1609-5T>G) c.1126-5T>G (n.1126-5T>G) c.1021-5T>G (n.1021-5T>G) | |
3 | g.122282109C>A | CA435251457 | CASR | c.1378-4C>A (n.1378-4C>A) c.1635C>A (p.Leu545=) c.1609-4C>A (n.1609-4C>A) c.1126-4C>A (n.1126-4C>A) c.1021-4C>A (n.1021-4C>A) | |
3 | g.122282109C= | CA1397885785 | CASR | c.1378-4C= (n.1378-4C=) c.1635C= (p.Leu545=) c.1609-4C= (n.1609-4C=) c.1126-4C= (n.1126-4C=) c.1021-4C= (n.1021-4C=) | |
3 | g.122282109C>G | CA435251458 | CASR | c.1378-4C>G (n.1378-4C>G) c.1635C>G (p.Leu545=) c.1609-4C>G (n.1609-4C>G) c.1126-4C>G (n.1126-4C>G) c.1021-4C>G (n.1021-4C>G) | |
3 | g.122282109C>T | CA82747947 | CASR | c.1378-4C>T (n.1378-4C>T) c.1635C>T (p.Leu545=) c.1609-4C>T (n.1609-4C>T) c.1126-4C>T (n.1126-4C>T) c.1021-4C>T (n.1021-4C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.122282110C>A | CA354156102 | CASR | c.1378-3C>A (n.1378-3C>A) c.1636C>A (p.Gln546Lys) c.1609-3C>A (n.1609-3C>A) c.1126-3C>A (n.1126-3C>A) c.1021-3C>A (n.1021-3C>A) | |
3 | g.122282110C= | CA1397885786 | CASR | c.1378-3C= (n.1378-3C=) c.1636C= (p.Gln546=) c.1609-3C= (n.1609-3C=) c.1126-3C= (n.1126-3C=) c.1021-3C= (n.1021-3C=) | |
3 | g.122282110C>G | CA354156103 | CASR | c.1378-3C>G (n.1378-3C>G) c.1636C>G (p.Gln546Glu) c.1609-3C>G (n.1609-3C>G) c.1126-3C>G (n.1126-3C>G) c.1021-3C>G (n.1021-3C>G) | |
3 | g.122282110C>T | CA354156104 | CASR | c.1378-3C>T (n.1378-3C>T) c.1636C>T (p.Gln546Ter) c.1609-3C>T (n.1609-3C>T) c.1126-3C>T (n.1126-3C>T) c.1021-3C>T (n.1021-3C>T) | dbSNP |
3 | g.122282111A= | CA1397885787 | CASR | c.1378-2A= (n.1378-2A=) c.1637A= (p.Gln546=) c.1609-2A= (n.1609-2A=) c.1126-2A= (n.1126-2A=) c.1021-2A= (n.1021-2A=) | |
3 | g.122282111A>C | CA354156105 | CASR | c.1378-2A>C (n.1378-2A>C) c.1637A>C (p.Gln546Pro) c.1609-2A>C (n.1609-2A>C) c.1126-2A>C (n.1126-2A>C) c.1021-2A>C (n.1021-2A>C) | |
3 | g.122282111A>G | CA354156106 | CASR | c.1378-2A>G (n.1378-2A>G) c.1637A>G (p.Gln546Arg) c.1609-2A>G (n.1609-2A>G) c.1126-2A>G (n.1126-2A>G) c.1021-2A>G (n.1021-2A>G) | ClinVar dbSNP |
3 | g.122282111A>T | CA2569713 | CASR | c.1378-2A>T (n.1378-2A>T) c.1637A>T (p.Gln546Leu) c.1609-2A>T (n.1609-2A>T) c.1126-2A>T (n.1126-2A>T) c.1021-2A>T (n.1021-2A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282112G>A | CA354156109 | CASR | c.1378-1G>A (n.1378-1G>A) c.1638G>A (p.Gln546=) c.1609-1G>A (n.1609-1G>A) c.1126-1G>A (n.1126-1G>A) c.1021-1G>A (n.1021-1G>A) | |
3 | g.122282112G>C | CA354156108 | CASR | c.1378-1G>C (n.1378-1G>C) c.1638G>C (p.Gln546His) c.1609-1G>C (n.1609-1G>C) c.1126-1G>C (n.1126-1G>C) c.1021-1G>C (n.1021-1G>C) | |
3 | g.122282112G>T | CA354156107 | CASR | c.1378-1G>T (n.1378-1G>T) c.1638G>T (p.Gln546His) c.1609-1G>T (n.1609-1G>T) c.1126-1G>T (n.1126-1G>T) c.1021-1G>T (n.1021-1G>T) | |
3 | g.122282113G>A | CA354156112 | CASR | c.1378G>A (p.Val460Met) c.1639G>A (p.Val547Met) c.1609G>A (p.Val537Met) c.1126G>A (p.Val376Met) c.1021G>A (p.Val341Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282113G>C | CA354156110 | CASR | c.1378G>C (p.Val460Leu) c.1639G>C (p.Val547Leu) c.1609G>C (p.Val537Leu) c.1126G>C (p.Val376Leu) c.1021G>C (p.Val341Leu) | ClinVar |
3 | g.122282113G= | CA1397885788 | CASR | c.1378G= (p.Val460=) c.1639G= (p.Val547=) c.1609G= (p.Val537=) c.1126G= (p.Val376=) c.1021G= (p.Val341=) | |
3 | g.122282113G>T | CA354156111 | CASR | c.1378G>T (p.Val460Leu) c.1639G>T (p.Val547Leu) c.1609G>T (p.Val537Leu) c.1126G>T (p.Val376Leu) c.1021G>T (p.Val341Leu) | |
3 | g.122282114T>A | CA354156113 | CASR | c.1379T>A (p.Val460Glu) c.1640T>A (p.Val547Glu) c.1610T>A (p.Val537Glu) c.1127T>A (p.Val376Glu) c.1022T>A (p.Val341Glu) | |
3 | g.122282114T>C | CA354156114 | CASR | c.1379T>C (p.Val460Ala) c.1640T>C (p.Val547Ala) c.1610T>C (p.Val537Ala) c.1127T>C (p.Val376Ala) c.1022T>C (p.Val341Ala) | |
3 | g.122282114T>G | CA354156115 | CASR | c.1379T>G (p.Val460Gly) c.1640T>G (p.Val547Gly) c.1610T>G (p.Val537Gly) c.1127T>G (p.Val376Gly) c.1022T>G (p.Val341Gly) | |
3 | g.122282115G>A | CA435251461 | CASR | c.1380G>A (p.Val460=) c.1641G>A (p.Val547=) c.1611G>A (p.Val537=) c.1128G>A (p.Val376=) c.1023G>A (p.Val341=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282115G>C | CA435251460 | CASR | c.1380G>C (p.Val460=) c.1641G>C (p.Val547=) c.1611G>C (p.Val537=) c.1128G>C (p.Val376=) c.1023G>C (p.Val341=) | ClinVar dbSNP |
3 | g.122282115G= | CA1397885789 | CASR | c.1380G= (p.Val460=) c.1641G= (p.Val547=) c.1611G= (p.Val537=) c.1128G= (p.Val376=) c.1023G= (p.Val341=) | |
3 | g.122282115G>T | CA435251459 | CASR | c.1380G>T (p.Val460=) c.1641G>T (p.Val547=) c.1611G>T (p.Val537=) c.1128G>T (p.Val376=) c.1023G>T (p.Val341=) | |
3 | g.122282116C>A | CA354156118 | CASR | c.1381C>A (p.Pro461Thr) c.1642C>A (p.Pro548Thr) c.1612C>A (p.Pro538Thr) c.1129C>A (p.Pro377Thr) c.1024C>A (p.Pro342Thr) | |
3 | g.122282116C>G | CA354156117 | CASR | c.1381C>G (p.Pro461Ala) c.1642C>G (p.Pro548Ala) c.1612C>G (p.Pro538Ala) c.1129C>G (p.Pro377Ala) c.1024C>G (p.Pro342Ala) | |
3 | g.122282116C>T | CA354156116 | CASR | c.1381C>T (p.Pro461Ser) c.1642C>T (p.Pro548Ser) c.1612C>T (p.Pro538Ser) c.1129C>T (p.Pro377Ser) c.1024C>T (p.Pro342Ser) | |
3 | g.122282117C>A | CA354156119 | CASR | c.1382C>A (p.Pro461His) c.1643C>A (p.Pro548His) c.1613C>A (p.Pro538His) c.1130C>A (p.Pro377His) c.1025C>A (p.Pro342His) | COSMIC |
3 | g.122282117C>G | CA354156120 | CASR | c.1382C>G (p.Pro461Arg) c.1643C>G (p.Pro548Arg) c.1613C>G (p.Pro538Arg) c.1130C>G (p.Pro377Arg) c.1025C>G (p.Pro342Arg) | |
3 | g.122282117C>T | CA354156121 | CASR | c.1382C>T (p.Pro461Leu) c.1643C>T (p.Pro548Leu) c.1613C>T (p.Pro538Leu) c.1130C>T (p.Pro377Leu) c.1025C>T (p.Pro342Leu) | |
3 | g.122282118C>A | CA435251462 | CASR | c.1383C>A (p.Pro461=) c.1644C>A (p.Pro548=) c.1614C>A (p.Pro538=) c.1131C>A (p.Pro377=) c.1026C>A (p.Pro342=) | |
3 | g.122282118C>G | CA435251463 | CASR | c.1383C>G (p.Pro461=) c.1644C>G (p.Pro548=) c.1614C>G (p.Pro538=) c.1131C>G (p.Pro377=) c.1026C>G (p.Pro342=) | |
3 | g.122282118C>T | CA435251464 | CASR | c.1383C>T (p.Pro461=) c.1644C>T (p.Pro548=) c.1614C>T (p.Pro538=) c.1131C>T (p.Pro377=) c.1026C>T (p.Pro342=) | |
3 | g.122282119T>A | CA354156122 | CASR | c.1384T>A (p.Phe462Ile) c.1645T>A (p.Phe549Ile) c.1615T>A (p.Phe539Ile) c.1132T>A (p.Phe378Ile) c.1027T>A (p.Phe343Ile) | |
3 | g.122282119T>C | CA354156123 | CASR | c.1384T>C (p.Phe462Leu) c.1645T>C (p.Phe549Leu) c.1615T>C (p.Phe539Leu) c.1132T>C (p.Phe378Leu) c.1027T>C (p.Phe343Leu) | |
3 | g.122282119T>G | CA354156124 | CASR | c.1384T>G (p.Phe462Val) c.1645T>G (p.Phe549Val) c.1615T>G (p.Phe539Val) c.1132T>G (p.Phe378Val) c.1027T>G (p.Phe343Val) | |
3 | g.122282120T>A | CA354156125 | CASR | c.1385T>A (p.Phe462Tyr) c.1646T>A (p.Phe549Tyr) c.1616T>A (p.Phe539Tyr) c.1133T>A (p.Phe378Tyr) c.1028T>A (p.Phe343Tyr) | gnomAD v4 |
3 | g.122282120T>C | CA354156127 | CASR | c.1385T>C (p.Phe462Ser) c.1646T>C (p.Phe549Ser) c.1616T>C (p.Phe539Ser) c.1133T>C (p.Phe378Ser) c.1028T>C (p.Phe343Ser) | |
3 | g.122282120T>G | CA354156126 | CASR | c.1385T>G (p.Phe462Cys) c.1646T>G (p.Phe549Cys) c.1616T>G (p.Phe539Cys) c.1133T>G (p.Phe378Cys) c.1028T>G (p.Phe343Cys) | |
3 | g.122282121C>A | CA354156128 | CASR | c.1386C>A (p.Phe462Leu) c.1647C>A (p.Phe549Leu) c.1617C>A (p.Phe539Leu) c.1134C>A (p.Phe378Leu) c.1029C>A (p.Phe343Leu) | |
3 | g.122282121C= | CA1397885790 | CASR | c.1386C= (p.Phe462=) c.1647C= (p.Phe549=) c.1617C= (p.Phe539=) c.1134C= (p.Phe378=) c.1029C= (p.Phe343=) | |
3 | g.122282121C>G | CA2569714 | CASR | c.1386C>G (p.Phe462Leu) c.1647C>G (p.Phe549Leu) c.1617C>G (p.Phe539Leu) c.1134C>G (p.Phe378Leu) c.1029C>G (p.Phe343Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282121C>T | CA435251465 | CASR | c.1386C>T (p.Phe462=) c.1647C>T (p.Phe549=) c.1617C>T (p.Phe539=) c.1134C>T (p.Phe378=) c.1029C>T (p.Phe343=) | |
3 | g.122282122T>A | CA354156129 | CASR | c.1387T>A (p.Ser463Thr) c.1648T>A (p.Ser550Thr) c.1618T>A (p.Ser540Thr) c.1135T>A (p.Ser379Thr) c.1030T>A (p.Ser344Thr) | ClinVar |
3 | g.122282122T>C | CA354156130 | CASR | c.1387T>C (p.Ser463Pro) c.1648T>C (p.Ser550Pro) c.1618T>C (p.Ser540Pro) c.1135T>C (p.Ser379Pro) c.1030T>C (p.Ser344Pro) | |
3 | g.122282122T>G | CA354156131 | CASR | c.1387T>G (p.Ser463Ala) c.1648T>G (p.Ser550Ala) c.1618T>G (p.Ser540Ala) c.1135T>G (p.Ser379Ala) c.1030T>G (p.Ser344Ala) | |
3 | g.122282123C>A | CA354156132 | CASR | c.1388C>A (p.Ser463Tyr) c.1649C>A (p.Ser550Tyr) c.1619C>A (p.Ser540Tyr) c.1136C>A (p.Ser379Tyr) c.1031C>A (p.Ser344Tyr) | |
3 | g.122282123C= | CA1397885791 | CASR | c.1388C= (p.Ser463=) c.1649C= (p.Ser550=) c.1619C= (p.Ser540=) c.1136C= (p.Ser379=) c.1031C= (p.Ser344=) | |
3 | g.122282123C>G | CA354156133 | CASR | c.1388C>G (p.Ser463Cys) c.1649C>G (p.Ser550Cys) c.1619C>G (p.Ser540Cys) c.1136C>G (p.Ser379Cys) c.1031C>G (p.Ser344Cys) | |
3 | g.122282123C>T | CA16042450 | CASR | c.1388C>T (p.Ser463Phe) c.1649C>T (p.Ser550Phe) c.1619C>T (p.Ser540Phe) c.1136C>T (p.Ser379Phe) c.1031C>T (p.Ser344Phe) | ClinVar dbSNP |
3 | g.122282124C>A | CA435251466 | CASR | c.1389C>A (p.Ser463=) c.1650C>A (p.Ser550=) c.1620C>A (p.Ser540=) c.1137C>A (p.Ser379=) c.1032C>A (p.Ser344=) | |
3 | g.122282124C= | CA1397885792 | CASR | c.1389C= (p.Ser463=) c.1650C= (p.Ser550=) c.1620C= (p.Ser540=) c.1137C= (p.Ser379=) c.1032C= (p.Ser344=) | |
3 | g.122282124C>G | CA435251467 | CASR | c.1389C>G (p.Ser463=) c.1650C>G (p.Ser550=) c.1620C>G (p.Ser540=) c.1137C>G (p.Ser379=) c.1032C>G (p.Ser344=) | |
3 | g.122282124C>T | CA435251468 | CASR | c.1389C>T (p.Ser463=) c.1650C>T (p.Ser550=) c.1620C>T (p.Ser540=) c.1137C>T (p.Ser379=) c.1032C>T (p.Ser344=) | ClinVar dbSNP gnomAD v4 |
3 | g.122282125A>C | CA354156134 | CASR | c.1390A>C (p.Asn464His) c.1651A>C (p.Asn551His) c.1621A>C (p.Asn541His) c.1138A>C (p.Asn380His) c.1033A>C (p.Asn345His) | |
3 | g.122282125A>G | CA354156135 | CASR | c.1390A>G (p.Asn464Asp) c.1651A>G (p.Asn551Asp) c.1621A>G (p.Asn541Asp) c.1138A>G (p.Asn380Asp) c.1033A>G (p.Asn345Asp) | |
3 | g.122282125A>T | CA354156136 | CASR | c.1390A>T (p.Asn464Tyr) c.1651A>T (p.Asn551Tyr) c.1621A>T (p.Asn541Tyr) c.1138A>T (p.Asn380Tyr) c.1033A>T (p.Asn345Tyr) | |
3 | g.122282126A= | CA1397885793 | CASR | c.1391A= (p.Asn464=) c.1652A= (p.Asn551=) c.1622A= (p.Asn541=) c.1139A= (p.Asn380=) c.1034A= (p.Asn345=) | |
3 | g.122282126A>C | CA354156138 | CASR | c.1391A>C (p.Asn464Thr) c.1652A>C (p.Asn551Thr) c.1622A>C (p.Asn541Thr) c.1139A>C (p.Asn380Thr) c.1034A>C (p.Asn345Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282126A>G | CA2569715 | CASR | c.1391A>G (p.Asn464Ser) c.1652A>G (p.Asn551Ser) c.1622A>G (p.Asn541Ser) c.1139A>G (p.Asn380Ser) c.1034A>G (p.Asn345Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282126A>T | CA354156137 | CASR | c.1391A>T (p.Asn464Ile) c.1652A>T (p.Asn551Ile) c.1622A>T (p.Asn541Ile) c.1139A>T (p.Asn380Ile) c.1034A>T (p.Asn345Ile) | dbSNP gnomAD v4 |
3 | g.122282126_122282129delinsACTG | CA1397885794 | CASR | c.1391_1394delinsACTG (p.Asn464=) c.1652_1655delinsACTG (p.Asn551=) c.1622_1625delinsACTG (p.Asn541=) c.1139_1142delinsACTG (p.Asn380=) c.1034_1037delinsACTG (p.Asn345=) | |
3 | g.122282127C>A | CA354156139 | CASR | c.1392C>A (p.Asn464Lys) c.1653C>A (p.Asn551Lys) c.1623C>A (p.Asn541Lys) c.1140C>A (p.Asn380Lys) c.1035C>A (p.Asn345Lys) | |
3 | g.122282127C>G | CA354156140 | CASR | c.1392C>G (p.Asn464Lys) c.1653C>G (p.Asn551Lys) c.1623C>G (p.Asn541Lys) c.1140C>G (p.Asn380Lys) c.1035C>G (p.Asn345Lys) | |
3 | g.122282127C>T | CA435251469 | CASR | c.1392C>T (p.Asn464=) c.1653C>T (p.Asn551=) c.1623C>T (p.Asn541=) c.1140C>T (p.Asn380=) c.1035C>T (p.Asn345=) | |
3 | g.122282128_122282130del | CA16611305 | CASR | c.1393_1395del (p.Cys465del) c.1654_1656del (p.Cys552del) c.1624_1626del (p.Cys542del) c.1141_1143del (p.Cys381del) c.1036_1038del (p.Cys346del) | ClinVar dbSNP |
3 | g.122282128T>A | CA354156141 | CASR | c.1393T>A (p.Cys465Ser) c.1654T>A (p.Cys552Ser) c.1624T>A (p.Cys542Ser) c.1141T>A (p.Cys381Ser) c.1036T>A (p.Cys346Ser) | |
3 | g.122282128T>C | CA354156142 | CASR | c.1393T>C (p.Cys465Arg) c.1654T>C (p.Cys552Arg) c.1624T>C (p.Cys542Arg) c.1141T>C (p.Cys381Arg) c.1036T>C (p.Cys346Arg) | |
3 | g.122282128T>G | CA354156143 | CASR | c.1393T>G (p.Cys465Gly) c.1654T>G (p.Cys552Gly) c.1624T>G (p.Cys542Gly) c.1141T>G (p.Cys381Gly) c.1036T>G (p.Cys346Gly) | |
3 | g.122282129G>A | CA354156144 | CASR | c.1394G>A (p.Cys465Tyr) c.1655G>A (p.Cys552Tyr) c.1625G>A (p.Cys542Tyr) c.1142G>A (p.Cys381Tyr) c.1037G>A (p.Cys346Tyr) | |
3 | g.122282129G>C | CA354156145 | CASR | c.1394G>C (p.Cys465Ser) c.1655G>C (p.Cys552Ser) c.1625G>C (p.Cys542Ser) c.1142G>C (p.Cys381Ser) c.1037G>C (p.Cys346Ser) | |
3 | g.122282129G>T | CA354156146 | CASR | c.1394G>T (p.Cys465Phe) c.1655G>T (p.Cys552Phe) c.1625G>T (p.Cys542Phe) c.1142G>T (p.Cys381Phe) c.1037G>T (p.Cys346Phe) | |
3 | g.122282130C>A | CA354156147 | CASR | c.1395C>A (p.Cys465Ter) c.1656C>A (p.Cys552Ter) c.1626C>A (p.Cys542Ter) c.1143C>A (p.Cys381Ter) c.1038C>A (p.Cys346Ter) | |
3 | g.122282130C= | CA1397885795 | CASR | c.1395C= (p.Cys465=) c.1656C= (p.Cys552=) c.1626C= (p.Cys542=) c.1143C= (p.Cys381=) c.1038C= (p.Cys346=) | |
3 | g.122282130C>G | CA354156148 | CASR | c.1395C>G (p.Cys465Trp) c.1656C>G (p.Cys552Trp) c.1626C>G (p.Cys542Trp) c.1143C>G (p.Cys381Trp) c.1038C>G (p.Cys346Trp) | |
3 | g.122282130C>T | CA435251470 | CASR | c.1395C>T (p.Cys465=) c.1656C>T (p.Cys552=) c.1626C>T (p.Cys542=) c.1143C>T (p.Cys381=) c.1038C>T (p.Cys346=) | ClinVar dbSNP |
3 | g.122282131A>C | CA354156149 | CASR | c.1396A>C (p.Ser466Arg) c.1657A>C (p.Ser553Arg) c.1627A>C (p.Ser543Arg) c.1144A>C (p.Ser382Arg) c.1039A>C (p.Ser347Arg) | |
3 | g.122282131A>G | CA354156150 | CASR | c.1396A>G (p.Ser466Gly) c.1657A>G (p.Ser553Gly) c.1627A>G (p.Ser543Gly) c.1144A>G (p.Ser382Gly) c.1039A>G (p.Ser347Gly) | |
3 | g.122282131A>T | CA354156151 | CASR | c.1396A>T (p.Ser466Cys) c.1657A>T (p.Ser553Cys) c.1627A>T (p.Ser543Cys) c.1144A>T (p.Ser382Cys) c.1039A>T (p.Ser347Cys) | |
3 | g.122282132G>A | CA354156154 | CASR | c.1397G>A (p.Ser466Asn) c.1658G>A (p.Ser553Asn) c.1628G>A (p.Ser543Asn) c.1145G>A (p.Ser382Asn) c.1040G>A (p.Ser347Asn) | ClinVar |
3 | g.122282132G>C | CA354156152 | CASR | c.1397G>C (p.Ser466Thr) c.1658G>C (p.Ser553Thr) c.1628G>C (p.Ser543Thr) c.1145G>C (p.Ser382Thr) c.1040G>C (p.Ser347Thr) | ClinVar dbSNP |
3 | g.122282132G= | CA1397885796 | CASR | c.1397G= (p.Ser466=) c.1658G= (p.Ser553=) c.1628G= (p.Ser543=) c.1145G= (p.Ser382=) c.1040G= (p.Ser347=) | |
3 | g.122282132G>T | CA354156153 | CASR | c.1397G>T (p.Ser466Ile) c.1658G>T (p.Ser553Ile) c.1628G>T (p.Ser543Ile) c.1145G>T (p.Ser382Ile) c.1040G>T (p.Ser347Ile) | |
3 | g.122282133C>A | CA354156155 | CASR | c.1398C>A (p.Ser466Arg) c.1659C>A (p.Ser553Arg) c.1629C>A (p.Ser543Arg) c.1146C>A (p.Ser382Arg) c.1041C>A (p.Ser347Arg) | |
3 | g.122282133C= | CA1397885797 | CASR | c.1398C= (p.Ser466=) c.1659C= (p.Ser553=) c.1629C= (p.Ser543=) c.1146C= (p.Ser382=) c.1041C= (p.Ser347=) | |
3 | g.122282133C>G | CA354156156 | CASR | c.1398C>G (p.Ser466Arg) c.1659C>G (p.Ser553Arg) c.1629C>G (p.Ser543Arg) c.1146C>G (p.Ser382Arg) c.1041C>G (p.Ser347Arg) | |
3 | g.122282133C>T | CA216124 | CASR | c.1398C>T (p.Ser466=) c.1659C>T (p.Ser553=) c.1629C>T (p.Ser543=) c.1146C>T (p.Ser382=) c.1041C>T (p.Ser347=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282134C>A | CA435251471 | CASR | c.1399C>A (p.Arg467=) c.1660C>A (p.Arg554=) c.1630C>A (p.Arg544=) c.1147C>A (p.Arg383=) c.1042C>A (p.Arg348=) | gnomAD v4 |
3 | g.122282134C= | CA1397885798 | CASR | c.1399C= (p.Arg467=) c.1660C= (p.Arg554=) c.1630C= (p.Arg544=) c.1147C= (p.Arg383=) c.1042C= (p.Arg348=) | |
3 | g.122282134C>G | CA354156157 | CASR | c.1399C>G (p.Arg467Gly) c.1660C>G (p.Arg554Gly) c.1630C>G (p.Arg544Gly) c.1147C>G (p.Arg383Gly) c.1042C>G (p.Arg348Gly) | |
3 | g.122282134C>T | CA10602891 | CASR | c.1399C>T (p.Arg467Ter) c.1660C>T (p.Arg554Ter) c.1630C>T (p.Arg544Ter) c.1147C>T (p.Arg383Ter) c.1042C>T (p.Arg348Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282135G>A | CA2569716 | CASR | c.1400G>A (p.Arg467Gln) c.1661G>A (p.Arg554Gln) c.1631G>A (p.Arg544Gln) c.1148G>A (p.Arg383Gln) c.1043G>A (p.Arg348Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282135G>C | CA354156158 | CASR | c.1400G>C (p.Arg467Pro) c.1661G>C (p.Arg554Pro) c.1631G>C (p.Arg544Pro) c.1148G>C (p.Arg383Pro) c.1043G>C (p.Arg348Pro) | |
3 | g.122282135G= | CA1397885799 | CASR | c.1400G= (p.Arg467=) c.1661G= (p.Arg554=) c.1631G= (p.Arg544=) c.1148G= (p.Arg383=) c.1043G= (p.Arg348=) | |
3 | g.122282135G>T | CA2569717 | CASR | c.1400G>T (p.Arg467Leu) c.1661G>T (p.Arg554Leu) c.1631G>T (p.Arg544Leu) c.1148G>T (p.Arg383Leu) c.1043G>T (p.Arg348Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282136A>C | CA435251472 | CASR | c.1401A>C (p.Arg467=) c.1662A>C (p.Arg554=) c.1632A>C (p.Arg544=) c.1149A>C (p.Arg383=) c.1044A>C (p.Arg348=) | |
3 | g.122282136A>G | CA435251473 | CASR | c.1401A>G (p.Arg467=) c.1662A>G (p.Arg554=) c.1632A>G (p.Arg544=) c.1149A>G (p.Arg383=) c.1044A>G (p.Arg348=) | |
3 | g.122282136A>T | CA435251474 | CASR | c.1401A>T (p.Arg467=) c.1662A>T (p.Arg554=) c.1632A>T (p.Arg544=) c.1149A>T (p.Arg383=) c.1044A>T (p.Arg348=) | |
3 | g.122282137G>A | CA354156159 | CASR | c.1402G>A (p.Asp468Asn) c.1663G>A (p.Asp555Asn) c.1633G>A (p.Asp545Asn) c.1150G>A (p.Asp384Asn) c.1045G>A (p.Asp349Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122282137G>C | CA354156160 | CASR | c.1402G>C (p.Asp468His) c.1663G>C (p.Asp555His) c.1633G>C (p.Asp545His) c.1150G>C (p.Asp384His) c.1045G>C (p.Asp349His) | |
3 | g.122282137G= | CA1397885800 | CASR | c.1402G= (p.Asp468=) c.1663G= (p.Asp555=) c.1633G= (p.Asp545=) c.1150G= (p.Asp384=) c.1045G= (p.Asp349=) | |
3 | g.122282137G>T | CA354156161 | CASR | c.1402G>T (p.Asp468Tyr) c.1663G>T (p.Asp555Tyr) c.1633G>T (p.Asp545Tyr) c.1150G>T (p.Asp384Tyr) c.1045G>T (p.Asp349Tyr) | COSMIC |
3 | g.122282138A>C | CA354156163 | CASR | c.1403A>C (p.Asp468Ala) c.1664A>C (p.Asp555Ala) c.1634A>C (p.Asp545Ala) c.1151A>C (p.Asp384Ala) c.1046A>C (p.Asp349Ala) | |
3 | g.122282138A>G | CA354156164 | CASR | c.1403A>G (p.Asp468Gly) c.1664A>G (p.Asp555Gly) c.1634A>G (p.Asp545Gly) c.1151A>G (p.Asp384Gly) c.1046A>G (p.Asp349Gly) | |
3 | g.122282138A>T | CA354156162 | CASR | c.1403A>T (p.Asp468Val) c.1664A>T (p.Asp555Val) c.1634A>T (p.Asp545Val) c.1151A>T (p.Asp384Val) c.1046A>T (p.Asp349Val) | |
3 | g.122282139C>A | CA354156165 | CASR | c.1404C>A (p.Asp468Glu) c.1665C>A (p.Asp555Glu) c.1635C>A (p.Asp545Glu) c.1152C>A (p.Asp384Glu) c.1047C>A (p.Asp349Glu) | |
3 | g.122282139C>G | CA354156166 | CASR | c.1404C>G (p.Asp468Glu) c.1665C>G (p.Asp555Glu) c.1635C>G (p.Asp545Glu) c.1152C>G (p.Asp384Glu) c.1047C>G (p.Asp349Glu) | |
3 | g.122282139C>T | CA435251475 | CASR | c.1404C>T (p.Asp468=) c.1665C>T (p.Asp555=) c.1635C>T (p.Asp545=) c.1152C>T (p.Asp384=) c.1047C>T (p.Asp349=) | |
3 | g.122282140T>A | CA354156167 | CASR | c.1405T>A (p.Cys469Ser) c.1666T>A (p.Cys556Ser) c.1636T>A (p.Cys546Ser) c.1153T>A (p.Cys385Ser) c.1048T>A (p.Cys350Ser) | |
3 | g.122282140T>C | CA354156168 | CASR | c.1405T>C (p.Cys469Arg) c.1666T>C (p.Cys556Arg) c.1636T>C (p.Cys546Arg) c.1153T>C (p.Cys385Arg) c.1048T>C (p.Cys350Arg) | |
3 | g.122282140T>G | CA354156169 | CASR | c.1405T>G (p.Cys469Gly) c.1666T>G (p.Cys556Gly) c.1636T>G (p.Cys546Gly) c.1153T>G (p.Cys385Gly) c.1048T>G (p.Cys350Gly) | |
3 | g.122282141G>A | CA354156170 | CASR | c.1406G>A (p.Cys469Tyr) c.1667G>A (p.Cys556Tyr) c.1637G>A (p.Cys546Tyr) c.1154G>A (p.Cys385Tyr) c.1049G>A (p.Cys350Tyr) | ClinVar dbSNP |
3 | g.122282141G>C | CA354156171 | CASR | c.1406G>C (p.Cys469Ser) c.1667G>C (p.Cys556Ser) c.1637G>C (p.Cys546Ser) c.1154G>C (p.Cys385Ser) c.1049G>C (p.Cys350Ser) | |
3 | g.122282141G>T | CA354156172 | CASR | c.1406G>T (p.Cys469Phe) c.1667G>T (p.Cys556Phe) c.1637G>T (p.Cys546Phe) c.1154G>T (p.Cys385Phe) c.1049G>T (p.Cys350Phe) | ClinVar dbSNP |
3 | g.122282142C>A | CA354156173 | CASR | c.1407C>A (p.Cys469Ter) c.1668C>A (p.Cys556Ter) c.1638C>A (p.Cys546Ter) c.1155C>A (p.Cys385Ter) c.1050C>A (p.Cys350Ter) | gnomAD v4 |
3 | g.122282142C= | CA1397885801 | CASR | c.1407C= (p.Cys469=) c.1668C= (p.Cys556=) c.1638C= (p.Cys546=) c.1155C= (p.Cys385=) c.1050C= (p.Cys350=) | |
3 | g.122282142C>G | CA354156174 | CASR | c.1407C>G (p.Cys469Trp) c.1668C>G (p.Cys556Trp) c.1638C>G (p.Cys546Trp) c.1155C>G (p.Cys385Trp) c.1050C>G (p.Cys350Trp) | |
3 | g.122282142C>T | CA2569718 | CASR | c.1407C>T (p.Cys469=) c.1668C>T (p.Cys556=) c.1638C>T (p.Cys546=) c.1155C>T (p.Cys385=) c.1050C>T (p.Cys350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282143C>A | CA354156175 | CASR | c.1408C>A (p.Leu470Met) c.1669C>A (p.Leu557Met) c.1639C>A (p.Leu547Met) c.1156C>A (p.Leu386Met) c.1051C>A (p.Leu351Met) | gnomAD v4 |
3 | g.122282143C>G | CA354156176 | CASR | c.1408C>G (p.Leu470Val) c.1669C>G (p.Leu557Val) c.1639C>G (p.Leu547Val) c.1156C>G (p.Leu386Val) c.1051C>G (p.Leu351Val) | |
3 | g.122282143C>T | CA435251477 | CASR | c.1408C>T (p.Leu470=) c.1669C>T (p.Leu557=) c.1639C>T (p.Leu547=) c.1156C>T (p.Leu386=) c.1051C>T (p.Leu351=) | ClinVar |
3 | g.122282144T>A | CA354156179 | CASR | c.1409T>A (p.Leu470Gln) c.1670T>A (p.Leu557Gln) c.1640T>A (p.Leu547Gln) c.1157T>A (p.Leu386Gln) c.1052T>A (p.Leu351Gln) | |
3 | g.122282144T>C | CA354156178 | CASR | c.1409T>C (p.Leu470Pro) c.1670T>C (p.Leu557Pro) c.1640T>C (p.Leu547Pro) c.1157T>C (p.Leu386Pro) c.1052T>C (p.Leu351Pro) | ClinVar dbSNP |
3 | g.122282144T>G | CA354156177 | CASR | c.1409T>G (p.Leu470Arg) c.1670T>G (p.Leu557Arg) c.1640T>G (p.Leu547Arg) c.1157T>G (p.Leu386Arg) c.1052T>G (p.Leu351Arg) | |
3 | g.122282144T= | CA1397885802 | CASR | c.1409T= (p.Leu470=) c.1670T= (p.Leu557=) c.1640T= (p.Leu547=) c.1157T= (p.Leu386=) c.1052T= (p.Leu351=) | |
3 | g.122282145G>A | CA435251478 | CASR | c.1410G>A (p.Leu470=) c.1671G>A (p.Leu557=) c.1641G>A (p.Leu547=) c.1158G>A (p.Leu386=) c.1053G>A (p.Leu351=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282145G>C | CA435251479 | CASR | c.1410G>C (p.Leu470=) c.1671G>C (p.Leu557=) c.1641G>C (p.Leu547=) c.1158G>C (p.Leu386=) c.1053G>C (p.Leu351=) | dbSNP |
3 | g.122282145G= | CA1397885803 | CASR | c.1410G= (p.Leu470=) c.1671G= (p.Leu557=) c.1641G= (p.Leu547=) c.1158G= (p.Leu386=) c.1053G= (p.Leu351=) | |
3 | g.122282145G>T | CA435251480 | CASR | c.1410G>T (p.Leu470=) c.1671G>T (p.Leu557=) c.1641G>T (p.Leu547=) c.1158G>T (p.Leu386=) c.1053G>T (p.Leu351=) | gnomAD v4 |
3 | g.122282146G>A | CA2569719 | CASR | c.1411G>A (p.Ala471Thr) c.1672G>A (p.Ala558Thr) c.1642G>A (p.Ala548Thr) c.1159G>A (p.Ala387Thr) c.1054G>A (p.Ala352Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282146G>C | CA354156180 | CASR | c.1411G>C (p.Ala471Pro) c.1672G>C (p.Ala558Pro) c.1642G>C (p.Ala548Pro) c.1159G>C (p.Ala387Pro) c.1054G>C (p.Ala352Pro) | |
3 | g.122282146G= | CA1397885804 | CASR | c.1411G= (p.Ala471=) c.1672G= (p.Ala558=) c.1642G= (p.Ala548=) c.1159G= (p.Ala387=) c.1054G= (p.Ala352=) | |
3 | g.122282146G>T | CA82747979 | CASR | c.1411G>T (p.Ala471Ser) c.1672G>T (p.Ala558Ser) c.1642G>T (p.Ala548Ser) c.1159G>T (p.Ala387Ser) c.1054G>T (p.Ala352Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122282147C>A | CA354156181 | CASR | c.1412C>A (p.Ala471Glu) c.1673C>A (p.Ala558Glu) c.1643C>A (p.Ala548Glu) c.1160C>A (p.Ala387Glu) c.1055C>A (p.Ala352Glu) | ClinVar gnomAD v4 |
3 | g.122282147C>G | CA354156182 | CASR | c.1412C>G (p.Ala471Gly) c.1673C>G (p.Ala558Gly) c.1643C>G (p.Ala548Gly) c.1160C>G (p.Ala387Gly) c.1055C>G (p.Ala352Gly) | |
3 | g.122282147C>T | CA354156183 | CASR | c.1412C>T (p.Ala471Val) c.1673C>T (p.Ala558Val) c.1643C>T (p.Ala548Val) c.1160C>T (p.Ala387Val) c.1055C>T (p.Ala352Val) | |
3 | g.122282148A>C | CA435251481 | CASR | c.1413A>C (p.Ala471=) c.1674A>C (p.Ala558=) c.1644A>C (p.Ala548=) c.1161A>C (p.Ala387=) c.1056A>C (p.Ala352=) | |
3 | g.122282148A>G | CA435251482 | CASR | c.1413A>G (p.Ala471=) c.1674A>G (p.Ala558=) c.1644A>G (p.Ala548=) c.1161A>G (p.Ala387=) c.1056A>G (p.Ala352=) | |
3 | g.122282148A>T | CA435251483 | CASR | c.1413A>T (p.Ala471=) c.1674A>T (p.Ala558=) c.1644A>T (p.Ala548=) c.1161A>T (p.Ala387=) c.1056A>T (p.Ala352=) | |
3 | g.122282149G>A | CA354156184 | CASR | c.1414G>A (p.Gly472Arg) c.1675G>A (p.Gly559Arg) c.1645G>A (p.Gly549Arg) c.1162G>A (p.Gly388Arg) c.1057G>A (p.Gly353Arg) | ClinVar dbSNP |
3 | g.122282149G>C | CA354156185 | CASR | c.1414G>C (p.Gly472Arg) c.1675G>C (p.Gly559Arg) c.1645G>C (p.Gly549Arg) c.1162G>C (p.Gly388Arg) c.1057G>C (p.Gly353Arg) | |
3 | g.122282149G>T | CA354156186 | CASR | c.1414G>T (p.Gly472Trp) c.1675G>T (p.Gly559Trp) c.1645G>T (p.Gly549Trp) c.1162G>T (p.Gly388Trp) c.1057G>T (p.Gly353Trp) | |
3 | g.122282150G>A | CA354156187 | CASR | c.1415G>A (p.Gly472Glu) c.1676G>A (p.Gly559Glu) c.1646G>A (p.Gly549Glu) c.1163G>A (p.Gly388Glu) c.1058G>A (p.Gly353Glu) | ClinVar dbSNP |
3 | g.122282150G>C | CA354156188 | CASR | c.1415G>C (p.Gly472Ala) c.1676G>C (p.Gly559Ala) c.1646G>C (p.Gly549Ala) c.1163G>C (p.Gly388Ala) c.1058G>C (p.Gly353Ala) | |
3 | g.122282150G>T | CA354156189 | CASR | c.1415G>T (p.Gly472Val) c.1676G>T (p.Gly559Val) c.1646G>T (p.Gly549Val) c.1163G>T (p.Gly388Val) c.1058G>T (p.Gly353Val) | |
3 | g.122282151G>A | CA435251484 | CASR | c.1416G>A (p.Gly472=) c.1677G>A (p.Gly559=) c.1647G>A (p.Gly549=) c.1164G>A (p.Gly388=) c.1059G>A (p.Gly353=) | dbSNP gnomAD v4 |
3 | g.122282151G>C | CA435251485 | CASR | c.1416G>C (p.Gly472=) c.1677G>C (p.Gly559=) c.1647G>C (p.Gly549=) c.1164G>C (p.Gly388=) c.1059G>C (p.Gly353=) | |
3 | g.122282151G= | CA1397885805 | CASR | c.1416G= (p.Gly472=) c.1677G= (p.Gly559=) c.1647G= (p.Gly549=) c.1164G= (p.Gly388=) c.1059G= (p.Gly353=) | |
3 | g.122282151G>T | CA435251486 | CASR | c.1416G>T (p.Gly472=) c.1677G>T (p.Gly559=) c.1647G>T (p.Gly549=) c.1164G>T (p.Gly388=) c.1059G>T (p.Gly353=) | ClinVar dbSNP gnomAD v4 |
3 | g.122282152A>C | CA354156192 | CASR | c.1417A>C (p.Thr473Pro) c.1678A>C (p.Thr560Pro) c.1648A>C (p.Thr550Pro) c.1165A>C (p.Thr389Pro) c.1060A>C (p.Thr354Pro) | |
3 | g.122282152A>G | CA354156191 | CASR | c.1417A>G (p.Thr473Ala) c.1678A>G (p.Thr560Ala) c.1648A>G (p.Thr550Ala) c.1165A>G (p.Thr389Ala) c.1060A>G (p.Thr354Ala) | |
3 | g.122282152A>T | CA354156190 | CASR | c.1417A>T (p.Thr473Ser) c.1678A>T (p.Thr560Ser) c.1648A>T (p.Thr550Ser) c.1165A>T (p.Thr389Ser) c.1060A>T (p.Thr354Ser) | |
3 | g.122282153C>A | CA354156193 | CASR | c.1418C>A (p.Thr473Asn) c.1679C>A (p.Thr560Asn) c.1649C>A (p.Thr550Asn) c.1166C>A (p.Thr389Asn) c.1061C>A (p.Thr354Asn) | |
3 | g.122282153C>G | CA354156195 | CASR | c.1418C>G (p.Thr473Ser) c.1679C>G (p.Thr560Ser) c.1649C>G (p.Thr550Ser) c.1166C>G (p.Thr389Ser) c.1061C>G (p.Thr354Ser) | |
3 | g.122282153C>T | CA354156194 | CASR | c.1418C>T (p.Thr473Ile) c.1679C>T (p.Thr560Ile) c.1649C>T (p.Thr550Ile) c.1166C>T (p.Thr389Ile) c.1061C>T (p.Thr354Ile) | |
3 | g.122282154C>A | CA435251490 | CASR | c.1419C>A (p.Thr473=) c.1680C>A (p.Thr560=) c.1650C>A (p.Thr550=) c.1167C>A (p.Thr389=) c.1062C>A (p.Thr354=) | ClinVar |
3 | g.122282154C>G | CA435251491 | CASR | c.1419C>G (p.Thr473=) c.1680C>G (p.Thr560=) c.1650C>G (p.Thr550=) c.1167C>G (p.Thr389=) c.1062C>G (p.Thr354=) | |
3 | g.122282154C>T | CA435251492 | CASR | c.1419C>T (p.Thr473=) c.1680C>T (p.Thr560=) c.1650C>T (p.Thr550=) c.1167C>T (p.Thr389=) c.1062C>T (p.Thr354=) | gnomAD v4 COSMIC |
3 | g.122282155A>C | CA435251493 | CASR | c.1420A>C (p.Arg474=) c.1681A>C (p.Arg561=) c.1651A>C (p.Arg551=) c.1168A>C (p.Arg390=) c.1063A>C (p.Arg355=) | |
3 | g.122282155A>G | CA354156196 | CASR | c.1420A>G (p.Arg474Gly) c.1681A>G (p.Arg561Gly) c.1651A>G (p.Arg551Gly) c.1168A>G (p.Arg390Gly) c.1063A>G (p.Arg355Gly) | |
3 | g.122282155A>T | CA354156197 | CASR | c.1420A>T (p.Arg474Trp) c.1681A>T (p.Arg561Trp) c.1651A>T (p.Arg551Trp) c.1168A>T (p.Arg390Trp) c.1063A>T (p.Arg355Trp) | |
3 | g.122282156G>A | CA16611307 | CASR | c.1421G>A (p.Arg474Lys) c.1682G>A (p.Arg561Lys) c.1652G>A (p.Arg551Lys) c.1169G>A (p.Arg390Lys) c.1064G>A (p.Arg355Lys) | ClinVar dbSNP COSMIC |
3 | g.122282156G>C | CA354156198 | CASR | c.1421G>C (p.Arg474Thr) c.1682G>C (p.Arg561Thr) c.1652G>C (p.Arg551Thr) c.1169G>C (p.Arg390Thr) c.1064G>C (p.Arg355Thr) | |
3 | g.122282156G= | CA1397885806 | CASR | c.1421G= (p.Arg474=) c.1682G= (p.Arg561=) c.1652G= (p.Arg551=) c.1169G= (p.Arg390=) c.1064G= (p.Arg355=) | |
3 | g.122282156G>T | CA354156199 | CASR | c.1421G>T (p.Arg474Met) c.1682G>T (p.Arg561Met) c.1652G>T (p.Arg551Met) c.1169G>T (p.Arg390Met) c.1064G>T (p.Arg355Met) | |
3 | g.122282157G>A | CA435251497 | CASR | c.1422G>A (p.Arg474=) c.1683G>A (p.Arg561=) c.1653G>A (p.Arg551=) c.1170G>A (p.Arg390=) c.1065G>A (p.Arg355=) | ClinVar dbSNP |
3 | g.122282157G>C | CA354156200 | CASR | c.1422G>C (p.Arg474Ser) c.1683G>C (p.Arg561Ser) c.1653G>C (p.Arg551Ser) c.1170G>C (p.Arg390Ser) c.1065G>C (p.Arg355Ser) | |
3 | g.122282157G= | CA1397885807 | CASR | c.1422G= (p.Arg474=) c.1683G= (p.Arg561=) c.1653G= (p.Arg551=) c.1170G= (p.Arg390=) c.1065G= (p.Arg355=) | |
3 | g.122282157G>T | CA354156201 | CASR | c.1422G>T (p.Arg474Ser) c.1683G>T (p.Arg561Ser) c.1653G>T (p.Arg551Ser) c.1170G>T (p.Arg390Ser) c.1065G>T (p.Arg355Ser) | |
3 | g.122282158A>C | CA354156204 | CASR | c.1423A>C (p.Lys475Gln) c.1684A>C (p.Lys562Gln) c.1654A>C (p.Lys552Gln) c.1171A>C (p.Lys391Gln) c.1066A>C (p.Lys356Gln) | |
3 | g.122282158A>G | CA354156202 | CASR | c.1423A>G (p.Lys475Glu) c.1684A>G (p.Lys562Glu) c.1654A>G (p.Lys552Glu) c.1171A>G (p.Lys391Glu) c.1066A>G (p.Lys356Glu) | |
3 | g.122282158A>T | CA354156203 | CASR | c.1423A>T (p.Lys475Ter) c.1684A>T (p.Lys562Ter) c.1654A>T (p.Lys552Ter) c.1171A>T (p.Lys391Ter) c.1066A>T (p.Lys356Ter) | |
3 | g.122282160del | CA2580618229 | CASR | c.1425del (p.Ile477SerfsTer?) c.1686del (p.Ile564SerfsTer?) c.1656del (p.Ile554SerfsTer?) c.1173del (p.Ile393SerfsTer?) c.1068del (p.Ile358SerfsTer?) | |
3 | g.122282159A>C | CA354156205 | CASR | c.1424A>C (p.Lys475Thr) c.1685A>C (p.Lys562Thr) c.1655A>C (p.Lys552Thr) c.1172A>C (p.Lys391Thr) c.1067A>C (p.Lys356Thr) | |
3 | g.122282159A>G | CA354156206 | CASR | c.1424A>G (p.Lys475Arg) c.1685A>G (p.Lys562Arg) c.1655A>G (p.Lys552Arg) c.1172A>G (p.Lys391Arg) c.1067A>G (p.Lys356Arg) | |
3 | g.122282159A>T | CA354156207 | CASR | c.1424A>T (p.Lys475Ile) c.1685A>T (p.Lys562Ile) c.1655A>T (p.Lys552Ile) c.1172A>T (p.Lys391Ile) c.1067A>T (p.Lys356Ile) | |
3 | g.122282160A>C | CA354156208 | CASR | c.1425A>C (p.Lys475Asn) c.1686A>C (p.Lys562Asn) c.1656A>C (p.Lys552Asn) c.1173A>C (p.Lys391Asn) c.1068A>C (p.Lys356Asn) | |
3 | g.122282160A>G | CA435251501 | CASR | c.1425A>G (p.Lys475=) c.1686A>G (p.Lys562=) c.1656A>G (p.Lys552=) c.1173A>G (p.Lys391=) c.1068A>G (p.Lys356=) | |
3 | g.122282160A>T | CA354156209 | CASR | c.1425A>T (p.Lys475Asn) c.1686A>T (p.Lys562Asn) c.1656A>T (p.Lys552Asn) c.1173A>T (p.Lys391Asn) c.1068A>T (p.Lys356Asn) | |
3 | g.122282161G>A | CA119547 | CASR | c.1426G>A (p.Gly476Arg) c.1687G>A (p.Gly563Arg) c.1657G>A (p.Gly553Arg) c.1174G>A (p.Gly392Arg) c.1069G>A (p.Gly357Arg) | ClinVar dbSNP |
3 | g.122282161G>C | CA354156211 | CASR | c.1426G>C (p.Gly476Arg) c.1687G>C (p.Gly563Arg) c.1657G>C (p.Gly553Arg) c.1174G>C (p.Gly392Arg) c.1069G>C (p.Gly357Arg) | |
3 | g.122282161G= | CA1397885808 | CASR | c.1426G= (p.Gly476=) c.1687G= (p.Gly563=) c.1657G= (p.Gly553=) c.1174G= (p.Gly392=) c.1069G= (p.Gly357=) | |
3 | g.122282161G>T | CA354156210 | CASR | c.1426G>T (p.Gly476Trp) c.1687G>T (p.Gly563Trp) c.1657G>T (p.Gly553Trp) c.1174G>T (p.Gly392Trp) c.1069G>T (p.Gly357Trp) | |
3 | g.122282163dup | CA2838498672 | CASR | c.1428dup (p.Ile477AspfsTer3) c.1689dup (p.Ile564AspfsTer3) c.1659dup (p.Ile554AspfsTer3) c.1176dup (p.Ile393AspfsTer3) c.1071dup (p.Ile358AspfsTer3) | |
3 | g.122282162G>A | CA354156212 | CASR | c.1427G>A (p.Gly476Glu) c.1688G>A (p.Gly563Glu) c.1658G>A (p.Gly553Glu) c.1175G>A (p.Gly392Glu) c.1070G>A (p.Gly357Glu) | |
3 | g.122282162G>C | CA354156213 | CASR | c.1427G>C (p.Gly476Ala) c.1688G>C (p.Gly563Ala) c.1658G>C (p.Gly553Ala) c.1175G>C (p.Gly392Ala) c.1070G>C (p.Gly357Ala) | |
3 | g.122282162G= | CA1397885809 | CASR | c.1427G= (p.Gly476=) c.1688G= (p.Gly563=) c.1658G= (p.Gly553=) c.1175G= (p.Gly392=) c.1070G= (p.Gly357=) | |
3 | g.122282162G>T | CA354156214 | CASR | c.1427G>T (p.Gly476Val) c.1688G>T (p.Gly563Val) c.1658G>T (p.Gly553Val) c.1175G>T (p.Gly392Val) c.1070G>T (p.Gly357Val) | ClinVar dbSNP |
3 | g.122282163G>A | CA435251508 | CASR | c.1428G>A (p.Gly476=) c.1689G>A (p.Gly563=) c.1659G>A (p.Gly553=) c.1176G>A (p.Gly392=) c.1071G>A (p.Gly357=) | |
3 | g.122282163G>C | CA435251506 | CASR | c.1428G>C (p.Gly476=) c.1689G>C (p.Gly563=) c.1659G>C (p.Gly553=) c.1176G>C (p.Gly392=) c.1071G>C (p.Gly357=) | |
3 | g.122282163G>T | CA435251507 | CASR | c.1428G>T (p.Gly476=) c.1689G>T (p.Gly563=) c.1659G>T (p.Gly553=) c.1176G>T (p.Gly392=) c.1071G>T (p.Gly357=) | |
3 | g.122282164A= | CA1397885810 | CASR | c.1429A= (p.Ile477=) c.1690A= (p.Ile564=) c.1660A= (p.Ile554=) c.1177A= (p.Ile393=) c.1072A= (p.Ile358=) | |
3 | g.122282164A>C | CA354156215 | CASR | c.1429A>C (p.Ile477Leu) c.1690A>C (p.Ile564Leu) c.1660A>C (p.Ile554Leu) c.1177A>C (p.Ile393Leu) c.1072A>C (p.Ile358Leu) | |
3 | g.122282164A>G | CA354156216 | CASR | c.1429A>G (p.Ile477Val) c.1690A>G (p.Ile564Val) c.1660A>G (p.Ile554Val) c.1177A>G (p.Ile393Val) c.1072A>G (p.Ile358Val) | |
3 | g.122282164A>T | CA354156217 | CASR | c.1429A>T (p.Ile477Phe) c.1690A>T (p.Ile564Phe) c.1660A>T (p.Ile554Phe) c.1177A>T (p.Ile393Phe) c.1072A>T (p.Ile358Phe) | ClinVar dbSNP |
3 | g.122282165T>A | CA354156218 | CASR | c.1430T>A (p.Ile477Asn) c.1691T>A (p.Ile564Asn) c.1661T>A (p.Ile554Asn) c.1178T>A (p.Ile393Asn) c.1073T>A (p.Ile358Asn) | |
3 | g.122282165T>C | CA354156219 | CASR | c.1430T>C (p.Ile477Thr) c.1691T>C (p.Ile564Thr) c.1661T>C (p.Ile554Thr) c.1178T>C (p.Ile393Thr) c.1073T>C (p.Ile358Thr) | ClinVar dbSNP |
3 | g.122282165T>G | CA354156220 | CASR | c.1430T>G (p.Ile477Ser) c.1691T>G (p.Ile564Ser) c.1661T>G (p.Ile554Ser) c.1178T>G (p.Ile393Ser) c.1073T>G (p.Ile358Ser) | |
3 | g.122282165T= | CA1397885811 | CASR | c.1430T= (p.Ile477=) c.1691T= (p.Ile564=) c.1661T= (p.Ile554=) c.1178T= (p.Ile393=) c.1073T= (p.Ile358=) | |
3 | g.122282166C>A | CA435251511 | CASR | c.1431C>A (p.Ile477=) c.1692C>A (p.Ile564=) c.1662C>A (p.Ile554=) c.1179C>A (p.Ile393=) c.1074C>A (p.Ile358=) | |
3 | g.122282166C= | CA1397885812 | CASR | c.1431C= (p.Ile477=) c.1692C= (p.Ile564=) c.1662C= (p.Ile554=) c.1179C= (p.Ile393=) c.1074C= (p.Ile358=) | |
3 | g.122282166C>G | CA354156221 | CASR | c.1431C>G (p.Ile477Met) c.1692C>G (p.Ile564Met) c.1662C>G (p.Ile554Met) c.1179C>G (p.Ile393Met) c.1074C>G (p.Ile358Met) | |
3 | g.122282166C>T | CA82747980 | CASR | c.1431C>T (p.Ile477=) c.1692C>T (p.Ile564=) c.1662C>T (p.Ile554=) c.1179C>T (p.Ile393=) c.1074C>T (p.Ile358=) | ClinVar dbSNP |
3 | g.122282167A= | CA1397885813 | CASR | c.1432A= (p.Ile478=) c.1693A= (p.Ile565=) c.1663A= (p.Ile555=) c.1180A= (p.Ile394=) c.1075A= (p.Ile359=) | |
3 | g.122282167A>C | CA354156222 | CASR | c.1432A>C (p.Ile478Leu) c.1693A>C (p.Ile565Leu) c.1663A>C (p.Ile555Leu) c.1180A>C (p.Ile394Leu) c.1075A>C (p.Ile359Leu) | |
3 | g.122282167A>G | CA2569720 | CASR | c.1432A>G (p.Ile478Val) c.1693A>G (p.Ile565Val) c.1663A>G (p.Ile555Val) c.1180A>G (p.Ile394Val) c.1075A>G (p.Ile359Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122282167A>T | CA354156223 | CASR | c.1432A>T (p.Ile478Phe) c.1693A>T (p.Ile565Phe) c.1663A>T (p.Ile555Phe) c.1180A>T (p.Ile394Phe) c.1075A>T (p.Ile359Phe) | |
3 | g.122282168T>A | CA354156224 | CASR | c.1433T>A (p.Ile478Asn) c.1694T>A (p.Ile565Asn) c.1664T>A (p.Ile555Asn) c.1181T>A (p.Ile394Asn) c.1076T>A (p.Ile359Asn) | |
3 | g.122282168T>C | CA354156225 | CASR | c.1433T>C (p.Ile478Thr) c.1694T>C (p.Ile565Thr) c.1664T>C (p.Ile555Thr) c.1181T>C (p.Ile394Thr) c.1076T>C (p.Ile359Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.122282168T>G | CA354156226 | CASR | c.1433T>G (p.Ile478Ser) c.1694T>G (p.Ile565Ser) c.1664T>G (p.Ile555Ser) c.1181T>G (p.Ile394Ser) c.1076T>G (p.Ile359Ser) | |
3 | g.122282168T= | CA1397885814 | CASR | c.1433T= (p.Ile478=) c.1694T= (p.Ile565=) c.1664T= (p.Ile555=) c.1181T= (p.Ile394=) c.1076T= (p.Ile359=) | |
3 | g.122282169T>A | CA435251513 | CASR | c.1434T>A (p.Ile478=) c.1695T>A (p.Ile565=) c.1665T>A (p.Ile555=) c.1182T>A (p.Ile394=) c.1077T>A (p.Ile359=) | |
3 | g.122282169T>C | CA2569721 | CASR | c.1434T>C (p.Ile478=) c.1695T>C (p.Ile565=) c.1665T>C (p.Ile555=) c.1182T>C (p.Ile394=) c.1077T>C (p.Ile359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282169T>G | CA354156227 | CASR | c.1434T>G (p.Ile478Met) c.1695T>G (p.Ile565Met) c.1665T>G (p.Ile555Met) c.1182T>G (p.Ile394Met) c.1077T>G (p.Ile359Met) | |
3 | g.122282169T= | CA1397885815 | CASR | c.1434T= (p.Ile478=) c.1695T= (p.Ile565=) c.1665T= (p.Ile555=) c.1182T= (p.Ile394=) c.1077T= (p.Ile359=) | |
3 | g.122282170G>A | CA354156228 | CASR | c.1435G>A (p.Glu479Lys) c.1696G>A (p.Glu566Lys) c.1666G>A (p.Glu556Lys) c.1183G>A (p.Glu395Lys) c.1078G>A (p.Glu360Lys) | |
3 | g.122282170G>C | CA354156229 | CASR | c.1435G>C (p.Glu479Gln) c.1696G>C (p.Glu566Gln) c.1666G>C (p.Glu556Gln) c.1183G>C (p.Glu395Gln) c.1078G>C (p.Glu360Gln) | |
3 | g.122282170G>T | CA354156230 | CASR | c.1435G>T (p.Glu479Ter) c.1696G>T (p.Glu566Ter) c.1666G>T (p.Glu556Ter) c.1183G>T (p.Glu395Ter) c.1078G>T (p.Glu360Ter) | |
3 | g.122282171A>C | CA354156231 | CASR | c.1436A>C (p.Glu479Ala) c.1697A>C (p.Glu566Ala) c.1667A>C (p.Glu556Ala) c.1184A>C (p.Glu395Ala) c.1079A>C (p.Glu360Ala) | gnomAD v4 |
3 | g.122282171A>G | CA354156232 | CASR | c.1436A>G (p.Glu479Gly) c.1697A>G (p.Glu566Gly) c.1667A>G (p.Glu556Gly) c.1184A>G (p.Glu395Gly) c.1079A>G (p.Glu360Gly) | ClinVar |
3 | g.122282171A>T | CA354156233 | CASR | c.1436A>T (p.Glu479Val) c.1697A>T (p.Glu566Val) c.1667A>T (p.Glu556Val) c.1184A>T (p.Glu395Val) c.1079A>T (p.Glu360Val) | |
3 | g.122282172G>A | CA216126 | CASR | c.1437G>A (p.Glu479=) c.1698G>A (p.Glu566=) c.1668G>A (p.Glu556=) c.1185G>A (p.Glu395=) c.1080G>A (p.Glu360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122282172G>C | CA82747988 | CASR | c.1437G>C (p.Glu479Asp) c.1698G>C (p.Glu566Asp) c.1668G>C (p.Glu556Asp) c.1185G>C (p.Glu395Asp) c.1080G>C (p.Glu360Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.122282172G= | CA1397885816 | CASR | c.1437G= (p.Glu479=) c.1698G= (p.Glu566=) c.1668G= (p.Glu556=) c.1185G= (p.Glu395=) c.1080G= (p.Glu360=) | |
3 | g.122282172G>T | CA354156234 | CASR | c.1437G>T (p.Glu479Asp) c.1698G>T (p.Glu566Asp) c.1668G>T (p.Glu556Asp) c.1185G>T (p.Glu395Asp) c.1080G>T (p.Glu360Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122282176dup | CA916079843 | CASR | c.1441dup (p.Glu481GlyfsTer7) c.1702dup (p.Glu568GlyfsTer7) c.1672dup (p.Glu558GlyfsTer7) c.1189dup (p.Glu397GlyfsTer7) c.1084dup (p.Glu362GlyfsTer7) | ClinVar dbSNP |
3 | g.122282173G>A | CA354156235 | CASR | c.1438G>A (p.Gly480Arg) c.1699G>A (p.Gly567Arg) c.1669G>A (p.Gly557Arg) c.1186G>A (p.Gly396Arg) c.1081G>A (p.Gly361Arg) | ClinVar dbSNP |
3 | g.122282173G>C | CA354156236 | CASR | c.1438G>C (p.Gly480Arg) c.1699G>C (p.Gly567Arg) c.1669G>C (p.Gly557Arg) c.1186G>C (p.Gly396Arg) c.1081G>C (p.Gly361Arg) | gnomAD v4 |
3 | g.122282173G>T | CA354156237 | CASR | c.1438G>T (p.Gly480Trp) c.1699G>T (p.Gly567Trp) c.1669G>T (p.Gly557Trp) c.1186G>T (p.Gly396Trp) c.1081G>T (p.Gly361Trp) | ClinVar |
3 | g.122282174G>A | CA354156238 | CASR | c.1439G>A (p.Gly480Glu) c.1700G>A (p.Gly567Glu) c.1670G>A (p.Gly557Glu) c.1187G>A (p.Gly396Glu) c.1082G>A (p.Gly361Glu) | ClinVar dbSNP |
3 | g.122282174G>C | CA354156239 | CASR | c.1439G>C (p.Gly480Ala) c.1700G>C (p.Gly567Ala) c.1670G>C (p.Gly557Ala) c.1187G>C (p.Gly396Ala) c.1082G>C (p.Gly361Ala) | |
3 | g.122282174G= | CA1397885817 | CASR | c.1439G= (p.Gly480=) c.1700G= (p.Gly567=) c.1670G= (p.Gly557=) c.1187G= (p.Gly396=) c.1082G= (p.Gly361=) | |
3 | g.122282174G>T | CA354156240 | CASR | c.1439G>T (p.Gly480Val) c.1700G>T (p.Gly567Val) c.1670G>T (p.Gly557Val) c.1187G>T (p.Gly396Val) c.1082G>T (p.Gly361Val) | |
3 | g.122282174_122282175delinsAA | CA645532165 | CASR | c.1439_1440delinsAA (p.Gly480Glu) c.1700_1701delinsAA (p.Gly567Glu) c.1670_1671delinsAA (p.Gly557Glu) c.1187_1188delinsAA (p.Gly396Glu) c.1082_1083delinsAA (p.Gly361Glu) | COSMIC |
3 | g.122282175G>A | CA82747991 | CASR | c.1440G>A (p.Gly480=) c.1701G>A (p.Gly567=) c.1671G>A (p.Gly557=) c.1188G>A (p.Gly396=) c.1083G>A (p.Gly361=) | ClinVar dbSNP |
3 | g.122282175G>C | CA435251516 | CASR | c.1440G>C (p.Gly480=) c.1701G>C (p.Gly567=) c.1671G>C (p.Gly557=) c.1188G>C (p.Gly396=) c.1083G>C (p.Gly361=) | |
3 | g.122282175G= | CA1397885818 | CASR | c.1440G= (p.Gly480=) c.1701G= (p.Gly567=) c.1671G= (p.Gly557=) c.1188G= (p.Gly396=) c.1083G= (p.Gly361=) | |
3 | g.122282175G>T | CA435251517 | CASR | c.1440G>T (p.Gly480=) c.1701G>T (p.Gly567=) c.1671G>T (p.Gly557=) c.1188G>T (p.Gly396=) c.1083G>T (p.Gly361=) | |
3 | g.122282176G>A | CA354156241 | CASR | c.1441G>A (p.Glu481Lys) c.1702G>A (p.Glu568Lys) c.1672G>A (p.Glu558Lys) c.1189G>A (p.Glu397Lys) c.1084G>A (p.Glu362Lys) | gnomAD v4 COSMIC |
3 | g.122282176G>C | CA354156242 | CASR | c.1441G>C (p.Glu481Gln) c.1702G>C (p.Glu568Gln) c.1672G>C (p.Glu558Gln) c.1189G>C (p.Glu397Gln) c.1084G>C (p.Glu362Gln) | |
3 | g.122282176G>T | CA354156243 | CASR | c.1441G>T (p.Glu481Ter) c.1702G>T (p.Glu568Ter) c.1672G>T (p.Glu558Ter) c.1189G>T (p.Glu397Ter) c.1084G>T (p.Glu362Ter) | COSMIC |
3 | g.122282177A= | CA1397885819 | CASR | c.1442A= (p.Glu481=) c.1703A= (p.Glu568=) c.1673A= (p.Glu558=) c.1190A= (p.Glu397=) c.1085A= (p.Glu362=) | |
3 | g.122282177A>C | CA354156244 | CASR | c.1442A>C (p.Glu481Ala) c.1703A>C (p.Glu568Ala) c.1673A>C (p.Glu558Ala) c.1190A>C (p.Glu397Ala) c.1085A>C (p.Glu362Ala) | |
3 | g.122282177A>G | CA354156245 | CASR | c.1442A>G (p.Glu481Gly) c.1703A>G (p.Glu568Gly) c.1673A>G (p.Glu558Gly) c.1190A>G (p.Glu397Gly) c.1085A>G (p.Glu362Gly) | ClinVar dbSNP COSMIC |
3 | g.122282177A>T | CA354156246 | CASR | c.1442A>T (p.Glu481Val) c.1703A>T (p.Glu568Val) c.1673A>T (p.Glu558Val) c.1190A>T (p.Glu397Val) c.1085A>T (p.Glu362Val) | |
3 | g.122282178_122282182del | CA2580068632 | CASR | c.1443_1447del (p.Glu481AspfsTer5) c.1704_1708del (p.Glu568AspfsTer5) c.1674_1678del (p.Glu558AspfsTer5) c.1191_1195del (p.Glu397AspfsTer5) c.1086_1090del (p.Glu362AspfsTer5) | ClinVar |
3 | g.122282178G>A | CA435251521 | CASR | c.1443G>A (p.Glu481=) c.1704G>A (p.Glu568=) c.1674G>A (p.Glu558=) c.1191G>A (p.Glu397=) c.1086G>A (p.Glu362=) | COSMIC |
3 | g.122282178G>C | CA354156247 | CASR | c.1443G>C (p.Glu481Asp) c.1704G>C (p.Glu568Asp) c.1674G>C (p.Glu558Asp) c.1191G>C (p.Glu397Asp) c.1086G>C (p.Glu362Asp) | |
3 | g.122282178G>T | CA354156248 | CASR | c.1443G>T (p.Glu481Asp) c.1704G>T (p.Glu568Asp) c.1674G>T (p.Glu558Asp) c.1191G>T (p.Glu397Asp) c.1086G>T (p.Glu362Asp) | |
3 | g.122282179C>A | CA354156249 | CASR | c.1444C>A (p.Pro482Thr) c.1705C>A (p.Pro569Thr) c.1675C>A (p.Pro559Thr) c.1192C>A (p.Pro398Thr) c.1087C>A (p.Pro363Thr) | |
3 | g.122282179C>G | CA354156250 | CASR | c.1444C>G (p.Pro482Ala) c.1705C>G (p.Pro569Ala) c.1675C>G (p.Pro559Ala) c.1192C>G (p.Pro398Ala) c.1087C>G (p.Pro363Ala) | COSMIC |
3 | g.122282179C>T | CA354156251 | CASR | c.1444C>T (p.Pro482Ser) c.1705C>T (p.Pro569Ser) c.1675C>T (p.Pro559Ser) c.1192C>T (p.Pro398Ser) c.1087C>T (p.Pro363Ser) | |
3 | g.122282180C>A | CA213567 | CASR | c.1445C>A (p.Pro482His) c.1706C>A (p.Pro569His) c.1676C>A (p.Pro559His) c.1193C>A (p.Pro398His) c.1088C>A (p.Pro363His) | ClinVar dbSNP |
3 | g.122282180C= | CA1397885820 | CASR | c.1445C= (p.Pro482=) c.1706C= (p.Pro569=) c.1676C= (p.Pro559=) c.1193C= (p.Pro398=) c.1088C= (p.Pro363=) | |
3 | g.122282180C>G | CA354156252 | CASR | c.1445C>G (p.Pro482Arg) c.1706C>G (p.Pro569Arg) c.1676C>G (p.Pro559Arg) c.1193C>G (p.Pro398Arg) c.1088C>G (p.Pro363Arg) | |
3 | g.122282180C>T | CA2569722 | CASR | c.1445C>T (p.Pro482Leu) c.1706C>T (p.Pro569Leu) c.1676C>T (p.Pro559Leu) c.1193C>T (p.Pro398Leu) c.1088C>T (p.Pro363Leu) | dbSNP ExAC gnomAD v2 |