Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94046947_94046949dupCA2646650035ABCA4c.2888_2890dup (p.Gly963_His964insArg)
c.2666_2668dup (p.Gly889_His890insArg)
c.-64-6860_-64-6858dup (n.-64-6860_-64-6858dup)
 gnomAD v4
1g.94046948_94046949delinsGCCA1181422592ABCA4c.2888_2889delinsGC (p.Gly963=)
c.2666_2667delinsGC (p.Gly889=)
c.-64-6860_-64-6859delinsGC (n.-64-6860_-64-6859delinsGC)
1g.94046949C>ACA341275342ABCA4c.2888G>T (p.Gly963Val)
c.2666G>T (p.Gly889Val)
c.-64-6860G>T (n.-64-6860G>T)
1g.94046949C>GCA341275343ABCA4c.2888G>C (p.Gly963Ala)
c.2666G>C (p.Gly889Ala)
c.-64-6860G>C (n.-64-6860G>C)
1g.94046949C>TCA341275344ABCA4c.2888G>A (p.Gly963Asp)
c.2666G>A (p.Gly889Asp)
c.-64-6860G>A (n.-64-6860G>A)
1g.94046949_94046951delinsCCCCA1140725902ABCA4c.2886_2888delinsGGG (p.Leu962=)
c.2664_2666delinsGGG (p.Leu888=)
c.-64-6862_-64-6860delinsGGG (n.-64-6862_-64-6860delinsGGG)
1g.94046951delCA119138ABCA4c.2888del (p.Gly963AlafsTer14)
c.2666del (p.Gly889AlafsTer27)
c.-64-6860del (n.-64-6860del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94046950C>ACA341275347ABCA4c.2887G>T (p.Gly963Cys)
c.2665G>T (p.Gly889Cys)
c.-64-6861G>T (n.-64-6861G>T)
1g.94046950C=CA1181422593ABCA4c.2887G= (p.Gly963=)
c.2665G= (p.Gly889=)
c.-64-6861G= (n.-64-6861G=)
1g.94046950C>GCA341275345ABCA4c.2887G>C (p.Gly963Arg)
c.2665G>C (p.Gly889Arg)
c.-64-6861G>C (n.-64-6861G>C)
 ClinVar dbSNP
1g.94046950C>TCA341275346ABCA4c.2887G>A (p.Gly963Ser)
c.2665G>A (p.Gly889Ser)
c.-64-6861G>A (n.-64-6861G>A)
1g.94046951C>ACA418811490ABCA4c.2886G>T (p.Leu962=)
c.2664G>T (p.Leu888=)
c.-64-6862G>T (n.-64-6862G>T)
 gnomAD v4
1g.94046951C>GCA418811492ABCA4c.2886G>C (p.Leu962=)
c.2664G>C (p.Leu888=)
c.-64-6862G>C (n.-64-6862G>C)
1g.94046951C>TCA418811493ABCA4c.2886G>A (p.Leu962=)
c.2664G>A (p.Leu888=)
c.-64-6862G>A (n.-64-6862G>A)
 gnomAD v4
1g.94046952A>CCA341275348ABCA4c.2885T>G (p.Leu962Arg)
c.2663T>G (p.Leu888Arg)
c.-64-6863T>G (n.-64-6863T>G)
1g.94046952A>GCA341275349ABCA4c.2885T>C (p.Leu962Pro)
c.2663T>C (p.Leu888Pro)
c.-64-6863T>C (n.-64-6863T>C)
 gnomAD v4
1g.94046952A>TCA341275350ABCA4c.2885T>A (p.Leu962Gln)
c.2663T>A (p.Leu888Gln)
c.-64-6863T>A (n.-64-6863T>A)
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

Number of alleles fetched