Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94046952_94046953delinsAGCA1181422594ABCA4c.2884_2885delinsCT (p.Leu962=)
c.2662_2663delinsCT (p.Leu888=)
c.-64-6864_-64-6863delinsCT (n.-64-6864_-64-6863delinsCT)
1g.94046953G>ACA958126ABCA4c.2884C>T (p.Leu962=)
c.2662C>T (p.Leu888=)
c.-64-6864C>T (n.-64-6864C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046953G>CCA341275351ABCA4c.2884C>G (p.Leu962Val)
c.2662C>G (p.Leu888Val)
c.-64-6864C>G (n.-64-6864C>G)
1g.94046953G=CA1181422595ABCA4c.2884C= (p.Leu962=)
c.2662C= (p.Leu888=)
c.-64-6864C= (n.-64-6864C=)
1g.94046953G>TCA341275352ABCA4c.2884C>A (p.Leu962Met)
c.2662C>A (p.Leu888Met)
c.-64-6864C>A (n.-64-6864C>A)
1g.94046953_94046954delinsGGCA1140725904ABCA4c.2883_2884delinsCC (p.Phe961=)
c.2661_2662delinsCC (p.Phe887=)
c.-64-6865_-64-6864delinsCC (n.-64-6865_-64-6864delinsCC)
1g.94046954delCA227047ABCA4c.2884del (p.Leu962TrpfsTer15)
c.2662del (p.Leu888TrpfsTer28)
c.-64-6864del (n.-64-6864del)
 ClinVar dbSNP gnomAD v4
1g.94046954G>ACA418811512ABCA4c.2883C>T (p.Phe961=)
c.2661C>T (p.Phe887=)
c.-64-6865C>T (n.-64-6865C>T)
 COSMIC COSMIC
1g.94046954G>CCA341275353ABCA4c.2883C>G (p.Phe961Leu)
c.2661C>G (p.Phe887Leu)
c.-64-6865C>G (n.-64-6865C>G)
1g.94046954G>TCA341275354ABCA4c.2883C>A (p.Phe961Leu)
c.2661C>A (p.Phe887Leu)
c.-64-6865C>A (n.-64-6865C>A)
1g.94046955A>CCA341275357ABCA4c.2882T>G (p.Phe961Cys)
c.2660T>G (p.Phe887Cys)
c.-64-6866T>G (n.-64-6866T>G)
1g.94046955A>GCA341275356ABCA4c.2882T>C (p.Phe961Ser)
c.2660T>C (p.Phe887Ser)
c.-64-6866T>C (n.-64-6866T>C)
1g.94046955A>TCA341275355ABCA4c.2882T>A (p.Phe961Tyr)
c.2660T>A (p.Phe887Tyr)
c.-64-6866T>A (n.-64-6866T>A)
1g.94046956A>CCA341275358ABCA4c.2881T>G (p.Phe961Val)
c.2659T>G (p.Phe887Val)
c.-64-6867T>G (n.-64-6867T>G)
1g.94046956A>GCA341275359ABCA4c.2881T>C (p.Phe961Leu)
c.2659T>C (p.Phe887Leu)
c.-64-6867T>C (n.-64-6867T>C)
1g.94046956A>TCA341275360ABCA4c.2881T>A (p.Phe961Ile)
c.2659T>A (p.Phe887Ile)
c.-64-6867T>A (n.-64-6867T>A)
1g.94046957T>ACA418811527ABCA4c.2880A>T (p.Ala960=)
c.2658A>T (p.Ala886=)
c.-64-6868A>T (n.-64-6868A>T)
 gnomAD v4
1g.94046957T>CCA418811523ABCA4c.2880A>G (p.Ala960=)
c.2658A>G (p.Ala886=)
c.-64-6868A>G (n.-64-6868A>G)
1g.94046957T>GCA418811525ABCA4c.2880A>C (p.Ala960=)
c.2658A>C (p.Ala886=)
c.-64-6868A>C (n.-64-6868A>C)
1g.94046958delCA2573132716ABCA4c.2879del (p.Ala960AspfsTer17)
c.2657del (p.Ala886AspfsTer30)
c.-64-6869del (n.-64-6869del)
 ClinVar dbSNP gnomAD v4
1g.94046958G>ACA958127ABCA4c.2879C>T (p.Ala960Val)
c.2657C>T (p.Ala886Val)
c.-64-6869C>T (n.-64-6869C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94046958G>CCA341275361ABCA4c.2879C>G (p.Ala960Gly)
c.2657C>G (p.Ala886Gly)
c.-64-6869C>G (n.-64-6869C>G)
1g.94046958G=CA1181422596ABCA4c.2879C= (p.Ala960=)
c.2657C= (p.Ala886=)
c.-64-6869C= (n.-64-6869C=)
1g.94046958G>TCA341275362ABCA4c.2879C>A (p.Ala960Glu)
c.2657C>A (p.Ala886Glu)
c.-64-6869C>A (n.-64-6869C>A)
1g.94046959C>ACA341275363ABCA4c.2878G>T (p.Ala960Ser)
c.2656G>T (p.Ala886Ser)
c.-64-6870G>T (n.-64-6870G>T)
 dbSNP gnomAD v2
1g.94046959C=CA1181422597ABCA4c.2878G= (p.Ala960=)
c.2656G= (p.Ala886=)
c.-64-6870G= (n.-64-6870G=)
1g.94046959C>GCA341275364ABCA4c.2878G>C (p.Ala960Pro)
c.2656G>C (p.Ala886Pro)
c.-64-6870G>C (n.-64-6870G>C)
1g.94046959C>TCA958128ABCA4c.2878G>A (p.Ala960Thr)
c.2656G>A (p.Ala886Thr)
c.-64-6870G>A (n.-64-6870G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046960G>ACA227045ABCA4c.2877C>T (p.Thr959=)
c.2655C>T (p.Thr885=)
c.-64-6871C>T (n.-64-6871C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046960G>CCA418811544ABCA4c.2877C>G (p.Thr959=)
c.2655C>G (p.Thr885=)
c.-64-6871C>G (n.-64-6871C>G)
 ClinVar
1g.94046960G=CA1140725906ABCA4c.2877C= (p.Thr959=)
c.2655C= (p.Thr885=)
c.-64-6871C= (n.-64-6871C=)
1g.94046960G>TCA418811546ABCA4c.2877C>A (p.Thr959=)
c.2655C>A (p.Thr885=)
c.-64-6871C>A (n.-64-6871C>A)
 dbSNP
1g.94046966_94046986delCA2740090230ABCA4c.2857_2877del (p.Phe953_Thr959del)
c.2635_2655del (p.Phe879_Thr885del)
c.-64-6891_-64-6871del (n.-64-6891_-64-6871del)
 ClinVar
1g.94046961G>ACA227044ABCA4c.2876C>T (p.Thr959Ile)
c.2654C>T (p.Thr885Ile)
c.-64-6872C>T (n.-64-6872C>T)
 ClinVar dbSNP
1g.94046961G>CCA341275365ABCA4c.2876C>G (p.Thr959Ser)
c.2654C>G (p.Thr885Ser)
c.-64-6872C>G (n.-64-6872C>G)
1g.94046961G=CA1140725908ABCA4c.2876C= (p.Thr959=)
c.2654C= (p.Thr885=)
c.-64-6872C= (n.-64-6872C=)
1g.94046961G>TCA341275366ABCA4c.2876C>A (p.Thr959Asn)
c.2654C>A (p.Thr885Asn)
c.-64-6872C>A (n.-64-6872C>A)
1g.94046962T>ACA958129ABCA4c.2875A>T (p.Thr959Ser)
c.2653A>T (p.Thr885Ser)
c.-64-6873A>T (n.-64-6873A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046962T>CCA958130ABCA4c.2875A>G (p.Thr959Ala)
c.2653A>G (p.Thr885Ala)
c.-64-6873A>G (n.-64-6873A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046962T>GCA341275367ABCA4c.2875A>C (p.Thr959Pro)
c.2653A>C (p.Thr885Pro)
c.-64-6873A>C (n.-64-6873A>C)
1g.94046962T=CA1143624058ABCA4c.2875A= (p.Thr959=)
c.2653A= (p.Thr885=)
c.-64-6873A= (n.-64-6873A=)
1g.94046963G>ACA418811573ABCA4c.2874C>T (p.Ile958=)
c.2652C>T (p.Ile884=)
c.-64-6874C>T (n.-64-6874C>T)
 gnomAD v4
1g.94046963G>CCA341275368ABCA4c.2874C>G (p.Ile958Met)
c.2652C>G (p.Ile884Met)
c.-64-6874C>G (n.-64-6874C>G)
1g.94046963G=CA1181422598ABCA4c.2874C= (p.Ile958=)
c.2652C= (p.Ile884=)
c.-64-6874C= (n.-64-6874C=)
1g.94046963G>TCA418811571ABCA4c.2874C>A (p.Ile958=)
c.2652C>A (p.Ile884=)
c.-64-6874C>A (n.-64-6874C>A)
 dbSNP gnomAD v4
1g.94046964A=CA1181422599ABCA4c.2873T= (p.Ile958=)
c.2651T= (p.Ile884=)
c.-64-6875T= (n.-64-6875T=)
1g.94046964A>CCA341275369ABCA4c.2873T>G (p.Ile958Ser)
c.2651T>G (p.Ile884Ser)
c.-64-6875T>G (n.-64-6875T>G)
1g.94046964A>GCA958131ABCA4c.2873T>C (p.Ile958Thr)
c.2651T>C (p.Ile884Thr)
c.-64-6875T>C (n.-64-6875T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94046964A>TCA341275370ABCA4c.2873T>A (p.Ile958Asn)
c.2651T>A (p.Ile884Asn)
c.-64-6875T>A (n.-64-6875T>A)
 ClinVar dbSNP
1g.94046965T>ACA341275371ABCA4c.2872A>T (p.Ile958Phe)
c.2650A>T (p.Ile884Phe)
c.-64-6876A>T (n.-64-6876A>T)
 gnomAD v4

Number of alleles fetched