Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214953904C>A | CA350446065 | ABCA12,SNHG31 | c.6597G>T (p.Met2199Ile) c.5643G>T (p.Met1881Ile) n.6897G>T n.444+5957C>A c.6606G>T (p.Met2202Ile) n.7095G>T | |
2 | g.214953904C>G | CA350446066 | ABCA12,SNHG31 | c.6597G>C (p.Met2199Ile) c.5643G>C (p.Met1881Ile) n.6897G>C n.444+5957C>G c.6606G>C (p.Met2202Ile) n.7095G>C | |
2 | g.214953904C>T | CA350446067 | ABCA12,SNHG31 | c.6597G>A (p.Met2199Ile) c.5643G>A (p.Met1881Ile) n.6897G>A n.444+5957C>T c.6606G>A (p.Met2202Ile) n.7095G>A | gnomAD v4 |
2 | g.214953905A= | CA1327150068 | ABCA12,SNHG31 | c.6596T= (p.Met2199=) c.5642T= (p.Met1881=) n.6896T= n.444+5958A= c.6605T= (p.Met2202=) n.7094T= | |
2 | g.214953905A>C | CA350446068 | ABCA12,SNHG31 | c.6596T>G (p.Met2199Arg) c.5642T>G (p.Met1881Arg) n.6896T>G n.444+5958A>C c.6605T>G (p.Met2202Arg) n.7094T>G | |
2 | g.214953905A>G | CA350446069 | ABCA12,SNHG31 | c.6596T>C (p.Met2199Thr) c.5642T>C (p.Met1881Thr) n.6896T>C n.444+5958A>G c.6605T>C (p.Met2202Thr) n.7094T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953905A>T | CA350446070 | ABCA12,SNHG31 | c.6596T>A (p.Met2199Lys) c.5642T>A (p.Met1881Lys) n.6896T>A n.444+5958A>T c.6605T>A (p.Met2202Lys) n.7094T>A | |
2 | g.214953906T>A | CA350446071 | ABCA12,SNHG31 | c.6595A>T (p.Met2199Leu) c.5641A>T (p.Met1881Leu) n.6895A>T n.444+5959T>A c.6604A>T (p.Met2202Leu) n.7093A>T | |
2 | g.214953906T>C | CA350446072 | ABCA12,SNHG31 | c.6595A>G (p.Met2199Val) c.5641A>G (p.Met1881Val) n.6895A>G n.444+5959T>C c.6604A>G (p.Met2202Val) n.7093A>G | |
2 | g.214953906T>G | CA350446073 | ABCA12,SNHG31 | c.6595A>C (p.Met2199Leu) c.5641A>C (p.Met1881Leu) n.6895A>C n.444+5959T>G c.6604A>C (p.Met2202Leu) n.7093A>C | |
2 | g.214953907G>A | CA431388004 | ABCA12,SNHG31 | c.6594C>T (p.Thr2198=) c.5640C>T (p.Thr1880=) n.6894C>T n.444+5960G>A c.6603C>T (p.Thr2201=) n.7092C>T | |
2 | g.214953907G>C | CA431388005 | ABCA12,SNHG31 | c.6594C>G (p.Thr2198=) c.5640C>G (p.Thr1880=) n.6894C>G n.444+5960G>C c.6603C>G (p.Thr2201=) n.7092C>G | |
2 | g.214953907G>T | CA431388006 | ABCA12,SNHG31 | c.6594C>A (p.Thr2198=) c.5640C>A (p.Thr1880=) n.6894C>A n.444+5960G>T c.6603C>A (p.Thr2201=) n.7092C>A | |
2 | g.214953908G>A | CA64797529 | ABCA12,SNHG31 | c.6593C>T (p.Thr2198Ile) c.5639C>T (p.Thr1880Ile) n.6893C>T n.444+5961G>A c.6602C>T (p.Thr2201Ile) n.7091C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953908G>C | CA2090876 | ABCA12,SNHG31 | c.6593C>G (p.Thr2198Ser) c.5639C>G (p.Thr1880Ser) n.6893C>G n.444+5961G>C c.6602C>G (p.Thr2201Ser) n.7091C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214953908G= | CA1327150069 | ABCA12,SNHG31 | c.6593C= (p.Thr2198=) c.5639C= (p.Thr1880=) n.6893C= n.444+5961G= c.6602C= (p.Thr2201=) n.7091C= | |
2 | g.214953908G>T | CA350446074 | ABCA12,SNHG31 | c.6593C>A (p.Thr2198Asn) c.5639C>A (p.Thr1880Asn) n.6893C>A n.444+5961G>T c.6602C>A (p.Thr2201Asn) n.7091C>A | |
2 | g.214953909T>A | CA350446075 | ABCA12,SNHG31 | c.6592A>T (p.Thr2198Ser) c.5638A>T (p.Thr1880Ser) n.6892A>T n.444+5962T>A c.6601A>T (p.Thr2201Ser) n.7090A>T | |
2 | g.214953909T>C | CA350446076 | ABCA12,SNHG31 | c.6592A>G (p.Thr2198Ala) c.5638A>G (p.Thr1880Ala) n.6892A>G n.444+5962T>C c.6601A>G (p.Thr2201Ala) n.7090A>G | |
2 | g.214953909T>G | CA350446077 | ABCA12,SNHG31 | c.6592A>C (p.Thr2198Pro) c.5638A>C (p.Thr1880Pro) n.6892A>C n.444+5962T>G c.6601A>C (p.Thr2201Pro) n.7090A>C | |
2 | g.214953910G>A | CA431388008 | ABCA12,SNHG31 | c.6591C>T (p.Gly2197=) c.5637C>T (p.Gly1879=) n.6891C>T n.444+5963G>A c.6600C>T (p.Gly2200=) n.7089C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953910G>C | CA431388009 | ABCA12,SNHG31 | c.6591C>G (p.Gly2197=) c.5637C>G (p.Gly1879=) n.6891C>G n.444+5963G>C c.6600C>G (p.Gly2200=) n.7089C>G | |
2 | g.214953910G= | CA1327150070 | ABCA12,SNHG31 | c.6591C= (p.Gly2197=) c.5637C= (p.Gly1879=) n.6891C= n.444+5963G= c.6600C= (p.Gly2200=) n.7089C= | |
2 | g.214953910G>T | CA431388011 | ABCA12,SNHG31 | c.6591C>A (p.Gly2197=) c.5637C>A (p.Gly1879=) n.6891C>A n.444+5963G>T c.6600C>A (p.Gly2200=) n.7089C>A | |
2 | g.214953911C>A | CA350446078 | ABCA12,SNHG31 | c.6590G>T (p.Gly2197Val) c.5636G>T (p.Gly1879Val) n.6890G>T n.444+5964C>A c.6599G>T (p.Gly2200Val) n.7088G>T | |
2 | g.214953911C= | CA1327150071 | ABCA12,SNHG31 | c.6590G= (p.Gly2197=) c.5636G= (p.Gly1879=) n.6890G= n.444+5964C= c.6599G= (p.Gly2200=) n.7088G= | |
2 | g.214953911C>G | CA350446079 | ABCA12,SNHG31 | c.6590G>C (p.Gly2197Ala) c.5636G>C (p.Gly1879Ala) n.6890G>C n.444+5964C>G c.6599G>C (p.Gly2200Ala) n.7088G>C | |
2 | g.214953911C>T | CA350446080 | ABCA12,SNHG31 | c.6590G>A (p.Gly2197Asp) c.5636G>A (p.Gly1879Asp) n.6890G>A n.444+5964C>T c.6599G>A (p.Gly2200Asp) n.7088G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953913del | CA2662976207 | ABCA12,SNHG31 | c.6590del (p.Gly2197AlafsTer10) c.5636del (p.Gly1879AlafsTer10) n.6890del n.444+5966del c.6599del (p.Gly2200AlafsTer10) n.7088del | gnomAD v4 |
2 | g.214953912C>A | CA350446081 | ABCA12,SNHG31 | c.6589G>T (p.Gly2197Cys) c.5635G>T (p.Gly1879Cys) n.6889G>T n.444+5965C>A c.6598G>T (p.Gly2200Cys) n.7087G>T | |
2 | g.214953912C= | CA1327150072 | ABCA12,SNHG31 | c.6589G= (p.Gly2197=) c.5635G= (p.Gly1879=) n.6889G= n.444+5965C= c.6598G= (p.Gly2200=) n.7087G= | |
2 | g.214953912C>G | CA350446082 | ABCA12,SNHG31 | c.6589G>C (p.Gly2197Arg) c.5635G>C (p.Gly1879Arg) n.6889G>C n.444+5965C>G c.6598G>C (p.Gly2200Arg) n.7087G>C | gnomAD v4 |
2 | g.214953912C>T | CA350446083 | ABCA12,SNHG31 | c.6589G>A (p.Gly2197Ser) c.5635G>A (p.Gly1879Ser) n.6889G>A n.444+5965C>T c.6598G>A (p.Gly2200Ser) n.7087G>A | dbSNP |
2 | g.214953913C>A | CA350446084 | ABCA12,SNHG31 | c.6588G>T (p.Gln2196His) c.5634G>T (p.Gln1878His) n.6888G>T n.444+5966C>A c.6597G>T (p.Gln2199His) n.7086G>T | |
2 | g.214953913C= | CA1327150073 | ABCA12,SNHG31 | c.6588G= (p.Gln2196=) c.5634G= (p.Gln1878=) n.6888G= n.444+5966C= c.6597G= (p.Gln2199=) n.7086G= | |
2 | g.214953913C>G | CA350446085 | ABCA12,SNHG31 | c.6588G>C (p.Gln2196His) c.5634G>C (p.Gln1878His) n.6888G>C n.444+5966C>G c.6597G>C (p.Gln2199His) n.7086G>C | |
2 | g.214953913C>T | CA2090877 | ABCA12,SNHG31 | c.6588G>A (p.Gln2196=) c.5634G>A (p.Gln1878=) n.6888G>A n.444+5966C>T c.6597G>A (p.Gln2199=) n.7086G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214953914T>A | CA350446088 | ABCA12,SNHG31 | c.6587A>T (p.Gln2196Leu) c.5633A>T (p.Gln1878Leu) n.6887A>T n.444+5967T>A c.6596A>T (p.Gln2199Leu) n.7085A>T | |
2 | g.214953914T>C | CA350446087 | ABCA12,SNHG31 | c.6587A>G (p.Gln2196Arg) c.5633A>G (p.Gln1878Arg) n.6887A>G n.444+5967T>C c.6596A>G (p.Gln2199Arg) n.7085A>G | |
2 | g.214953914T>G | CA350446086 | ABCA12,SNHG31 | c.6587A>C (p.Gln2196Pro) c.5633A>C (p.Gln1878Pro) n.6887A>C n.444+5967T>G c.6596A>C (p.Gln2199Pro) n.7085A>C | |
2 | g.214953915G>A | CA350446089 | ABCA12,SNHG31 | c.6586C>T (p.Gln2196Ter) c.5632C>T (p.Gln1878Ter) n.6886C>T n.444+5968G>A c.6595C>T (p.Gln2199Ter) n.7084C>T | |
2 | g.214953915G>C | CA350446090 | ABCA12,SNHG31 | c.6586C>G (p.Gln2196Glu) c.5632C>G (p.Gln1878Glu) n.6886C>G n.444+5968G>C c.6595C>G (p.Gln2199Glu) n.7084C>G | |
2 | g.214953915G>T | CA350446091 | ABCA12,SNHG31 | c.6586C>A (p.Gln2196Lys) c.5632C>A (p.Gln1878Lys) n.6886C>A n.444+5968G>T c.6595C>A (p.Gln2199Lys) n.7084C>A | |
2 | g.214953916A>C | CA431388019 | ABCA12,SNHG31 | c.6585T>G (p.Ser2195=) c.5631T>G (p.Ser1877=) n.6885T>G n.444+5969A>C c.6594T>G (p.Ser2198=) n.7083T>G | |
2 | g.214953916A>G | CA431388020 | ABCA12,SNHG31 | c.6585T>C (p.Ser2195=) c.5631T>C (p.Ser1877=) n.6885T>C n.444+5969A>G c.6594T>C (p.Ser2198=) n.7083T>C | |
2 | g.214953916A>T | CA431388021 | ABCA12,SNHG31 | c.6585T>A (p.Ser2195=) c.5631T>A (p.Ser1877=) n.6885T>A n.444+5969A>T c.6594T>A (p.Ser2198=) n.7083T>A | |
2 | g.214953917G>A | CA350446092 | ABCA12,SNHG31 | c.6584C>T (p.Ser2195Phe) c.5630C>T (p.Ser1877Phe) n.6884C>T n.444+5970G>A c.6593C>T (p.Ser2198Phe) n.7082C>T | gnomAD v4 |
2 | g.214953917G>C | CA350446093 | ABCA12,SNHG31 | c.6584C>G (p.Ser2195Cys) c.5630C>G (p.Ser1877Cys) n.6884C>G n.444+5970G>C c.6593C>G (p.Ser2198Cys) n.7082C>G | |
2 | g.214953917G>T | CA350446094 | ABCA12,SNHG31 | c.6584C>A (p.Ser2195Tyr) c.5630C>A (p.Ser1877Tyr) n.6884C>A n.444+5970G>T c.6593C>A (p.Ser2198Tyr) n.7082C>A | gnomAD v4 |
2 | g.214953918A>C | CA350446095 | ABCA12,SNHG31 | c.6583T>G (p.Ser2195Ala) c.5629T>G (p.Ser1877Ala) n.6883T>G n.444+5971A>C c.6592T>G (p.Ser2198Ala) n.7081T>G |