Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94418528G>A | CA130190 | ABCD3 | c.50G>A (p.Gly17Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.94418528G>C | CA341294957 | ABCD3 | c.50G>C (p.Gly17Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94418528G= | CA1141580921 | ABCD3 | c.50G= (p.Gly17=) | |
1 | g.94418528G>T | CA341294959 | ABCD3 | c.50G>T (p.Gly17Val) | gnomAD v4 |
1 | g.94418529T>A | CA418833588 | ABCD3 | c.51T>A (p.Gly17=) | |
1 | g.94418529T>C | CA418833590 | ABCD3 | c.51T>C (p.Gly17=) | |
1 | g.94418529T>G | CA418833594 | ABCD3 | c.51T>G (p.Gly17=) | |
1 | g.94418530G>A | CA341294961 | ABCD3 | c.52G>A (p.Ala18Thr) | gnomAD v4 |
1 | g.94418530G>C | CA341294963 | ABCD3 | c.52G>C (p.Ala18Pro) | gnomAD v4 |
1 | g.94418530G>T | CA341294965 | ABCD3 | c.52G>T (p.Ala18Ser) | gnomAD v4 |
1 | g.94418531C>A | CA341294967 | ABCD3 | c.53C>A (p.Ala18Asp) | gnomAD v4 |
1 | g.94418531C= | CA1181573560 | ABCD3 | c.53C= (p.Ala18=) | |
1 | g.94418531C>G | CA341294969 | ABCD3 | c.53C>G (p.Ala18Gly) | |
1 | g.94418531C>T | CA26875953 | ABCD3 | c.53C>T (p.Ala18Val) | dbSNP gnomAD v4 |
1 | g.94418532C>A | CA418833613 | ABCD3 | c.54C>A (p.Ala18=) | |
1 | g.94418532C= | CA1181573561 | ABCD3 | c.54C= (p.Ala18=) | |
1 | g.94418532C>G | CA959979 | ABCD3 | c.54C>G (p.Ala18=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94418532C>T | CA418833616 | ABCD3 | c.54C>T (p.Ala18=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94418533G>A | CA341294971 | ABCD3 | c.55G>A (p.Ala19Thr) | gnomAD v4 |
1 | g.94418533G>C | CA341294975 | ABCD3 | c.55G>C (p.Ala19Pro) | |
1 | g.94418533G= | CA1181573562 | ABCD3 | c.55G= (p.Ala19=) | |
1 | g.94418533G>T | CA341294973 | ABCD3 | c.55G>T (p.Ala19Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94418534C>A | CA341294977 | ABCD3 | c.56C>A (p.Ala19Glu) | |
1 | g.94418534C>G | CA341294978 | ABCD3 | c.56C>G (p.Ala19Gly) | |
1 | g.94418534C>T | CA341294980 | ABCD3 | c.56C>T (p.Ala19Val) | gnomAD v4 |
1 | g.94418535G>A | CA418833633 | ABCD3 | c.57G>A (p.Ala19=) | gnomAD v4 |
1 | g.94418535G>C | CA418833631 | ABCD3 | c.57G>C (p.Ala19=) | |
1 | g.94418535G= | CA1144601290 | ABCD3 | c.57G= (p.Ala19=) | |
1 | g.94418535G>T | CA26875961 | ABCD3 | c.57G>T (p.Ala19=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94418536T>A | CA341294983 | ABCD3 | c.58T>A (p.Phe20Ile) | |
1 | g.94418536T>C | CA341294985 | ABCD3 | c.58T>C (p.Phe20Leu) | |
1 | g.94418536T>G | CA341294987 | ABCD3 | c.58T>G (p.Phe20Val) | |
1 | g.94418537T>A | CA341294989 | ABCD3 | c.59T>A (p.Phe20Tyr) | |
1 | g.94418537T>C | CA341294991 | ABCD3 | c.59T>C (p.Phe20Ser) | |
1 | g.94418537T>G | CA341294993 | ABCD3 | c.59T>G (p.Phe20Cys) | |
1 | g.94418538C>A | CA959981 | ABCD3 | c.60C>A (p.Phe20Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94418538C= | CA1181573563 | ABCD3 | c.60C= (p.Phe20=) | |
1 | g.94418538C>G | CA341294996 | ABCD3 | c.60C>G (p.Phe20Leu) | |
1 | g.94418538C>T | CA959980 | ABCD3 | c.60C>T (p.Phe20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94418539C>A | CA341295002 | ABCD3 | c.61C>A (p.Leu21Met) | |
1 | g.94418539C= | CA1146014504 | ABCD3 | c.61C= (p.Leu21=) | |
1 | g.94418539C>G | CA341294999 | ABCD3 | c.61C>G (p.Leu21Val) | |
1 | g.94418539C>T | CA959982 | ABCD3 | c.61C>T (p.Leu21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94418540T>A | CA341295004 | ABCD3 | c.62T>A (p.Leu21Gln) | |
1 | g.94418540T>C | CA341295006 | ABCD3 | c.62T>C (p.Leu21Pro) | dbSNP gnomAD v4 |
1 | g.94418540T>G | CA341295008 | ABCD3 | c.62T>G (p.Leu21Arg) | |
1 | g.94418540T= | CA1181573564 | ABCD3 | c.62T= (p.Leu21=) | |
1 | g.94418541G>A | CA418833664 | ABCD3 | c.63G>A (p.Leu21=) | gnomAD v4 |
1 | g.94418541G>C | CA418833662 | ABCD3 | c.63G>C (p.Leu21=) | |
1 | g.94418541G>T | CA418833666 | ABCD3 | c.63G>T (p.Leu21=) | gnomAD v4 |