Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214953891G>ACA252483ABCA12,SNHG31c.6610C>T (p.Arg2204Ter)
c.5656C>T (p.Arg1886Ter)
n.6910C>T
n.444+5944G>A
c.6619C>T (p.Arg2207Ter)
n.7108C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214953891G>CCA350446037ABCA12,SNHG31c.6610C>G (p.Arg2204Gly)
c.5656C>G (p.Arg1886Gly)
n.6910C>G
n.444+5944G>C
c.6619C>G (p.Arg2207Gly)
n.7108C>G
2g.214953891G=CA1327150062ABCA12,SNHG31c.6610C= (p.Arg2204=)
c.5656C= (p.Arg1886=)
n.6910C=
n.444+5944G=
c.6619C= (p.Arg2207=)
n.7108C=
2g.214953891G>TCA431387979ABCA12,SNHG31c.6610C>A (p.Arg2204=)
c.5656C>A (p.Arg1886=)
n.6910C>A
n.444+5944G>T
c.6619C>A (p.Arg2207=)
n.7108C>A
dbSNP gnomAD v4
2g.214953892C>ACA350446038ABCA12,SNHG31c.6609G>T (p.Leu2203Phe)
c.5655G>T (p.Leu1885Phe)
n.6909G>T
n.444+5945C>A
c.6618G>T (p.Leu2206Phe)
n.7107G>T
gnomAD v4
2g.214953892C>GCA350446039ABCA12,SNHG31c.6609G>C (p.Leu2203Phe)
c.5655G>C (p.Leu1885Phe)
n.6909G>C
n.444+5945C>G
c.6618G>C (p.Leu2206Phe)
n.7107G>C
2g.214953892C>TCA431387981ABCA12,SNHG31c.6609G>A (p.Leu2203=)
c.5655G>A (p.Leu1885=)
n.6909G>A
n.444+5945C>T
c.6618G>A (p.Leu2206=)
n.7107G>A
gnomAD v4
2g.214953893A>CCA350446040ABCA12,SNHG31c.6608T>G (p.Leu2203Trp)
c.5654T>G (p.Leu1885Trp)
n.6908T>G
n.444+5946A>C
c.6617T>G (p.Leu2206Trp)
n.7106T>G
2g.214953893A>GCA350446041ABCA12,SNHG31c.6608T>C (p.Leu2203Ser)
c.5654T>C (p.Leu1885Ser)
n.6908T>C
n.444+5946A>G
c.6617T>C (p.Leu2206Ser)
n.7106T>C
2g.214953893A>TCA350446042ABCA12,SNHG31c.6608T>A (p.Leu2203Ter)
c.5654T>A (p.Leu1885Ter)
n.6908T>A
n.444+5946A>T
c.6617T>A (p.Leu2206Ter)
n.7106T>A
2g.214953894A>CCA350446044ABCA12,SNHG31c.6607T>G (p.Leu2203Val)
c.5653T>G (p.Leu1885Val)
n.6907T>G
n.444+5947A>C
c.6616T>G (p.Leu2206Val)
n.7105T>G
2g.214953894A>GCA431387983ABCA12,SNHG31c.6607T>C (p.Leu2203=)
c.5653T>C (p.Leu1885=)
n.6907T>C
n.444+5947A>G
c.6616T>C (p.Leu2206=)
n.7105T>C
2g.214953894A>TCA350446043ABCA12,SNHG31c.6607T>A (p.Leu2203Met)
c.5653T>A (p.Leu1885Met)
n.6907T>A
n.444+5947A>T
c.6616T>A (p.Leu2206Met)
n.7105T>A
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
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

Number of alleles fetched