Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214953903dupCA2662976205ABCA12,SNHG31c.6604dup (p.Ser2202PhefsTer22)
c.5650dup (p.Ser1884PhefsTer22)
n.6904dup
n.444+5956dup
c.6613dup (p.Ser2205PhefsTer22)
n.7102dup
 gnomAD v4
2g.214953903delCA2662976206ABCA12,SNHG31c.6604del (p.Ser2202ProfsTer5)
c.5650del (p.Ser1884ProfsTer5)
n.6904del
n.444+5956del
c.6613del (p.Ser2205ProfsTer5)
n.7102del
 gnomAD v4
2g.214953899A>CCA350446052ABCA12,SNHG31c.6602T>G (p.Phe2201Cys)
c.5648T>G (p.Phe1883Cys)
n.6902T>G
n.444+5952A>C
c.6611T>G (p.Phe2204Cys)
n.7100T>G
2g.214953899A>GCA350446054ABCA12,SNHG31c.6602T>C (p.Phe2201Ser)
c.5648T>C (p.Phe1883Ser)
n.6902T>C
n.444+5952A>G
c.6611T>C (p.Phe2204Ser)
n.7100T>C
 gnomAD v4
2g.214953899A>TCA350446053ABCA12,SNHG31c.6602T>A (p.Phe2201Tyr)
c.5648T>A (p.Phe1883Tyr)
n.6902T>A
n.444+5952A>T
c.6611T>A (p.Phe2204Tyr)
n.7100T>A
2g.214953900A=CA1327150065ABCA12,SNHG31c.6601T= (p.Phe2201=)
c.5647T= (p.Phe1883=)
n.6901T=
n.444+5953A=
c.6610T= (p.Phe2204=)
n.7099T=
2g.214953900A>CCA350446055ABCA12,SNHG31c.6601T>G (p.Phe2201Val)
c.5647T>G (p.Phe1883Val)
n.6901T>G
n.444+5953A>C
c.6610T>G (p.Phe2204Val)
n.7099T>G
2g.214953900A>GCA350446056ABCA12,SNHG31c.6601T>C (p.Phe2201Leu)
c.5647T>C (p.Phe1883Leu)
n.6901T>C
n.444+5953A>G
c.6610T>C (p.Phe2204Leu)
n.7099T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214953900A>TCA2090875ABCA12,SNHG31c.6601T>A (p.Phe2201Ile)
c.5647T>A (p.Phe1883Ile)
n.6901T>A
n.444+5953A>T
c.6610T>A (p.Phe2204Ile)
n.7099T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214953901A=CA1327150066ABCA12,SNHG31c.6600T= (p.Phe2200=)
c.5646T= (p.Phe1882=)
n.6900T=
n.444+5954A=
c.6609T= (p.Phe2203=)
n.7098T=
2g.214953901A>CCA350446057ABCA12,SNHG31c.6600T>G (p.Phe2200Leu)
c.5646T>G (p.Phe1882Leu)
n.6900T>G
n.444+5954A>C
c.6609T>G (p.Phe2203Leu)
n.7098T>G
 dbSNP
2g.214953901A>GCA431387997ABCA12,SNHG31c.6600T>C (p.Phe2200=)
c.5646T>C (p.Phe1882=)
n.6900T>C
n.444+5954A>G
c.6609T>C (p.Phe2203=)
n.7098T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214953901A>TCA350446058ABCA12,SNHG31c.6600T>A (p.Phe2200Leu)
c.5646T>A (p.Phe1882Leu)
n.6900T>A
n.444+5954A>T
c.6609T>A (p.Phe2203Leu)
n.7098T>A
 gnomAD v4
2g.214953902A=CA1327150067ABCA12,SNHG31c.6599T= (p.Phe2200=)
c.5645T= (p.Phe1882=)
n.6899T=
n.444+5955A=
c.6608T= (p.Phe2203=)
n.7097T=
2g.214953902A>CCA350446059ABCA12,SNHG31c.6599T>G (p.Phe2200Cys)
c.5645T>G (p.Phe1882Cys)
n.6899T>G
n.444+5955A>C
c.6608T>G (p.Phe2203Cys)
n.7097T>G
2g.214953902A>GCA350446061ABCA12,SNHG31c.6599T>C (p.Phe2200Ser)
c.5645T>C (p.Phe1882Ser)
n.6899T>C
n.444+5955A>G
c.6608T>C (p.Phe2203Ser)
n.7097T>C
 dbSNP
2g.214953902A>TCA350446060ABCA12,SNHG31c.6599T>A (p.Phe2200Tyr)
c.5645T>A (p.Phe1882Tyr)
n.6899T>A
n.444+5955A>T
c.6608T>A (p.Phe2203Tyr)
n.7097T>A
2g.214953903A>CCA350446062ABCA12,SNHG31c.6598T>G (p.Phe2200Val)
c.5644T>G (p.Phe1882Val)
n.6898T>G
n.444+5956A>C
c.6607T>G (p.Phe2203Val)
n.7096T>G
2g.214953903A>GCA350446063ABCA12,SNHG31c.6598T>C (p.Phe2200Leu)
c.5644T>C (p.Phe1882Leu)
n.6898T>C
n.444+5956A>G
c.6607T>C (p.Phe2203Leu)
n.7096T>C
 gnomAD v4
2g.214953903A>TCA350446064ABCA12,SNHG31c.6598T>A (p.Phe2200Ile)
c.5644T>A (p.Phe1882Ile)
n.6898T>A
n.444+5956A>T
c.6607T>A (p.Phe2203Ile)
n.7096T>A
2g.214953904C>ACA350446065ABCA12,SNHG31c.6597G>T (p.Met2199Ile)
c.5643G>T (p.Met1881Ile)
n.6897G>T
n.444+5957C>A
c.6606G>T (p.Met2202Ile)
n.7095G>T
2g.214953904C>GCA350446066ABCA12,SNHG31c.6597G>C (p.Met2199Ile)
c.5643G>C (p.Met1881Ile)
n.6897G>C
n.444+5957C>G
c.6606G>C (p.Met2202Ile)
n.7095G>C
2g.214953904C>TCA350446067ABCA12,SNHG31c.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
2g.214953905A=CA1327150068ABCA12,SNHG31c.6596T= (p.Met2199=)
c.5642T= (p.Met1881=)
n.6896T=
n.444+5958A=
c.6605T= (p.Met2202=)
n.7094T=
2g.214953905A>CCA350446068ABCA12,SNHG31c.6596T>G (p.Met2199Arg)
c.5642T>G (p.Met1881Arg)
n.6896T>G
n.444+5958A>C
c.6605T>G (p.Met2202Arg)
n.7094T>G
2g.214953905A>GCA350446069ABCA12,SNHG31c.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
2g.214953905A>TCA350446070ABCA12,SNHG31c.6596T>A (p.Met2199Lys)
c.5642T>A (p.Met1881Lys)
n.6896T>A
n.444+5958A>T
c.6605T>A (p.Met2202Lys)
n.7094T>A
2g.214953906T>ACA350446071ABCA12,SNHG31c.6595A>T (p.Met2199Leu)
c.5641A>T (p.Met1881Leu)
n.6895A>T
n.444+5959T>A
c.6604A>T (p.Met2202Leu)
n.7093A>T
2g.214953906T>CCA350446072ABCA12,SNHG31c.6595A>G (p.Met2199Val)
c.5641A>G (p.Met1881Val)
n.6895A>G
n.444+5959T>C
c.6604A>G (p.Met2202Val)
n.7093A>G
2g.214953906T>GCA350446073ABCA12,SNHG31c.6595A>C (p.Met2199Leu)
c.5641A>C (p.Met1881Leu)
n.6895A>C
n.444+5959T>G
c.6604A>C (p.Met2202Leu)
n.7093A>C
2g.214953907G>ACA431388004ABCA12,SNHG31c.6594C>T (p.Thr2198=)
c.5640C>T (p.Thr1880=)
n.6894C>T
n.444+5960G>A
c.6603C>T (p.Thr2201=)
n.7092C>T
2g.214953907G>CCA431388005ABCA12,SNHG31c.6594C>G (p.Thr2198=)
c.5640C>G (p.Thr1880=)
n.6894C>G
n.444+5960G>C
c.6603C>G (p.Thr2201=)
n.7092C>G
2g.214953907G>TCA431388006ABCA12,SNHG31c.6594C>A (p.Thr2198=)
c.5640C>A (p.Thr1880=)
n.6894C>A
n.444+5960G>T
c.6603C>A (p.Thr2201=)
n.7092C>A
2g.214953908G>ACA64797529ABCA12,SNHG31c.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
2g.214953908G>CCA2090876ABCA12,SNHG31c.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
2g.214953908G=CA1327150069ABCA12,SNHG31c.6593C= (p.Thr2198=)
c.5639C= (p.Thr1880=)
n.6893C=
n.444+5961G=
c.6602C= (p.Thr2201=)
n.7091C=
2g.214953908G>TCA350446074ABCA12,SNHG31c.6593C>A (p.Thr2198Asn)
c.5639C>A (p.Thr1880Asn)
n.6893C>A
n.444+5961G>T
c.6602C>A (p.Thr2201Asn)
n.7091C>A
2g.214953909T>ACA350446075ABCA12,SNHG31c.6592A>T (p.Thr2198Ser)
c.5638A>T (p.Thr1880Ser)
n.6892A>T
n.444+5962T>A
c.6601A>T (p.Thr2201Ser)
n.7090A>T
2g.214953909T>CCA350446076ABCA12,SNHG31c.6592A>G (p.Thr2198Ala)
c.5638A>G (p.Thr1880Ala)
n.6892A>G
n.444+5962T>C
c.6601A>G (p.Thr2201Ala)
n.7090A>G
2g.214953909T>GCA350446077ABCA12,SNHG31c.6592A>C (p.Thr2198Pro)
c.5638A>C (p.Thr1880Pro)
n.6892A>C
n.444+5962T>G
c.6601A>C (p.Thr2201Pro)
n.7090A>C
2g.214953910G>ACA431388008ABCA12,SNHG31c.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
2g.214953910G>CCA431388009ABCA12,SNHG31c.6591C>G (p.Gly2197=)
c.5637C>G (p.Gly1879=)
n.6891C>G
n.444+5963G>C
c.6600C>G (p.Gly2200=)
n.7089C>G
2g.214953910G=CA1327150070ABCA12,SNHG31c.6591C= (p.Gly2197=)
c.5637C= (p.Gly1879=)
n.6891C=
n.444+5963G=
c.6600C= (p.Gly2200=)
n.7089C=
2g.214953910G>TCA431388011ABCA12,SNHG31c.6591C>A (p.Gly2197=)
c.5637C>A (p.Gly1879=)
n.6891C>A
n.444+5963G>T
c.6600C>A (p.Gly2200=)
n.7089C>A
2g.214953911C>ACA350446078ABCA12,SNHG31c.6590G>T (p.Gly2197Val)
c.5636G>T (p.Gly1879Val)
n.6890G>T
n.444+5964C>A
c.6599G>T (p.Gly2200Val)
n.7088G>T
2g.214953911C=CA1327150071ABCA12,SNHG31c.6590G= (p.Gly2197=)
c.5636G= (p.Gly1879=)
n.6890G=
n.444+5964C=
c.6599G= (p.Gly2200=)
n.7088G=
2g.214953911C>GCA350446079ABCA12,SNHG31c.6590G>C (p.Gly2197Ala)
c.5636G>C (p.Gly1879Ala)
n.6890G>C
n.444+5964C>G
c.6599G>C (p.Gly2200Ala)
n.7088G>C
2g.214953911C>TCA350446080ABCA12,SNHG31c.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
2g.214953913delCA2662976207ABCA12,SNHG31c.6590del (p.Gly2197AlafsTer10)
c.5636del (p.Gly1879AlafsTer10)
n.6890del
n.444+5966del
c.6599del (p.Gly2200AlafsTer10)
n.7088del
 gnomAD v4
2g.214953912C>ACA350446081ABCA12,SNHG31c.6589G>T (p.Gly2197Cys)
c.5635G>T (p.Gly1879Cys)
n.6889G>T
n.444+5965C>A
c.6598G>T (p.Gly2200Cys)
n.7087G>T

Number of alleles fetched