Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214953895G>ACA431387986ABCA12,SNHG31c.6606C>T (p.Ser2202=)
c.5652C>T (p.Ser1884=)
n.6906C>T
n.444+5948G>A
c.6615C>T (p.Ser2205=)
n.7104C>T
2g.214953895G>CCA431387987ABCA12,SNHG31c.6606C>G (p.Ser2202=)
c.5652C>G (p.Ser1884=)
n.6906C>G
n.444+5948G>C
c.6615C>G (p.Ser2205=)
n.7104C>G
2g.214953895G>TCA431387989ABCA12,SNHG31c.6606C>A (p.Ser2202=)
c.5652C>A (p.Ser1884=)
n.6906C>A
n.444+5948G>T
c.6615C>A (p.Ser2205=)
n.7104C>A
2g.214953896dupCA2662976204ABCA12,SNHG31c.6606dup (p.Arg2204AlafsTer20)
c.5652dup (p.Arg1886AlafsTer20)
n.6906dup
n.444+5949dup
c.6615dup (p.Arg2207AlafsTer20)
n.7104dup
 gnomAD v4
2g.214953895_214953896insACA645535908ABCA12,SNHG31c.6605_6606insT (p.Arg2204AlafsTer20)
c.5651_5652insT (p.Arg1886AlafsTer20)
n.6905_6906insT
n.444+5948_444+5949insA
c.6614_6615insT (p.Arg2207AlafsTer20)
n.7103_7104insT
 COSMIC COSMIC
2g.214953896G>ACA350446045ABCA12,SNHG31c.6605C>T (p.Ser2202Phe)
c.5651C>T (p.Ser1884Phe)
n.6905C>T
n.444+5949G>A
c.6614C>T (p.Ser2205Phe)
n.7103C>T
 gnomAD v4 COSMIC COSMIC
2g.214953896G>CCA350446046ABCA12,SNHG31c.6605C>G (p.Ser2202Cys)
c.5651C>G (p.Ser1884Cys)
n.6905C>G
n.444+5949G>C
c.6614C>G (p.Ser2205Cys)
n.7103C>G
2g.214953896G>TCA350446047ABCA12,SNHG31c.6605C>A (p.Ser2202Tyr)
c.5651C>A (p.Ser1884Tyr)
n.6905C>A
n.444+5949G>T
c.6614C>A (p.Ser2205Tyr)
n.7103C>A
2g.214953897A=CA1327150063ABCA12,SNHG31c.6604T= (p.Ser2202=)
c.5650T= (p.Ser1884=)
n.6904T=
n.444+5950A=
c.6613T= (p.Ser2205=)
n.7102T=
2g.214953897A>CCA350446048ABCA12,SNHG31c.6604T>G (p.Ser2202Ala)
c.5650T>G (p.Ser1884Ala)
n.6904T>G
n.444+5950A>C
c.6613T>G (p.Ser2205Ala)
n.7102T>G
 dbSNP gnomAD v3 gnomAD v4
2g.214953897A>GCA2090874ABCA12,SNHG31c.6604T>C (p.Ser2202Pro)
c.5650T>C (p.Ser1884Pro)
n.6904T>C
n.444+5950A>G
c.6613T>C (p.Ser2205Pro)
n.7102T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214953897A>TCA350446049ABCA12,SNHG31c.6604T>A (p.Ser2202Thr)
c.5650T>A (p.Ser1884Thr)
n.6904T>A
n.444+5950A>T
c.6613T>A (p.Ser2205Thr)
n.7102T>A
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.214953898A=CA1327150064ABCA12,SNHG31c.6603T= (p.Phe2201=)
c.5649T= (p.Phe1883=)
n.6903T=
n.444+5951A=
c.6612T= (p.Phe2204=)
n.7101T=
2g.214953898A>CCA350446050ABCA12,SNHG31c.6603T>G (p.Phe2201Leu)
c.5649T>G (p.Phe1883Leu)
n.6903T>G
n.444+5951A>C
c.6612T>G (p.Phe2204Leu)
n.7101T>G
2g.214953898A>GCA431387992ABCA12,SNHG31c.6603T>C (p.Phe2201=)
c.5649T>C (p.Phe1883=)
n.6903T>C
n.444+5951A>G
c.6612T>C (p.Phe2204=)
n.7101T>C
2g.214953898A>TCA350446051ABCA12,SNHG31c.6603T>A (p.Phe2201Leu)
c.5649T>A (p.Phe1883Leu)
n.6903T>A
n.444+5951A>T
c.6612T>A (p.Phe2204Leu)
n.7101T>A
 dbSNP gnomAD v2 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

Number of alleles fetched