Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87600786G>T | CA2683610037 | ABCB1 | c.-38C>A (n.-38C>A) c.173C>A (p.Ser58Ter) | gnomAD v4 |
7 | g.87600790T>C | CA2557877872 | ABCB1 | c.-42A>G (n.-42A>G) c.169A>G (p.Ile57Val) | |
7 | g.87600791T>C | CA162474277 | ABCB1 | c.-43A>G (n.-43A>G) c.168A>G (p.Lys56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600791T>G | CA2683610038 | ABCB1 | c.-43A>C (n.-43A>C) c.168A>C (p.Lys56Asn) | gnomAD v4 |
7 | g.87600791T= | CA1723661748 | ABCB1 | c.-43A= (n.-43A=) c.168A= (p.Lys56=) | |
7 | g.87600792T>C | CA162474278 | ABCB1 | c.-44A>G (n.-44A>G) c.167A>G (p.Lys56Arg) | dbSNP gnomAD v4 |
7 | g.87600792T= | CA1723661749 | ABCB1 | c.-44A= (n.-44A=) c.167A= (p.Lys56=) | |
7 | g.87600793T>C | CA2683610039 | ABCB1 | c.-45A>G (n.-45A>G) c.166A>G (p.Lys56Glu) | gnomAD v4 |
7 | g.87600794G>A | CA2683610040 | ABCB1 | c.-46C>T (n.-46C>T) c.165C>T (p.Ser55=) | gnomAD v4 |
7 | g.87600794G>T | CA2683610041 | ABCB1 | c.-46C>A (n.-46C>A) c.165C>A (p.Ser55=) | gnomAD v4 |
7 | g.87600795G>A | CA576126777 | ABCB1 | c.-47C>T (n.-47C>T) c.164C>T (p.Ser55Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87600795G= | CA1723661750 | ABCB1 | c.-47C= (n.-47C=) c.164C= (p.Ser55=) | |
7 | g.87600800_87600802del | CA2715252288 | ABCB1 | c.-49_-47del (n.-49_-47del) c.162_164del (p.Ser55del) | dbSNP |
7 | g.87600796A>G | CA2683610042 | ABCB1 | c.-48T>C (n.-48T>C) c.163T>C (p.Ser55Pro) | gnomAD v4 |
7 | g.87600799A>G | CA2683610043 | ABCB1 | c.-51T>C (n.-51T>C) c.160T>C (p.Ser54Pro) | gnomAD v4 |
7 | g.87600802A= | CA1723661751 | ABCB1 | c.-54T= (n.-54T=) c.157T= (p.Ser53=) | |
7 | g.87600802A>G | CA162474279 | ABCB1 | c.-54T>C (n.-54T>C) c.157T>C (p.Ser53Pro) | dbSNP gnomAD v4 |
7 | g.87600802A>T | CA2683610044 | ABCB1 | c.-54T>A (n.-54T>A) c.157T>A (p.Ser53Thr) | gnomAD v4 |
7 | g.87600804A>G | CA2683610045 | ABCB1 | c.-56T>C (n.-56T>C) c.155T>C (p.Val52Ala) | gnomAD v4 |
7 | g.87600805C>A | CA2683610046 | ABCB1 | c.-57G>T (n.-57G>T) c.154G>T (p.Val52Leu) | gnomAD v4 |
7 | g.87600805C>T | CA2683610047 | ABCB1 | c.-57G>A (n.-57G>A) c.154G>A (p.Val52Ile) | gnomAD v4 |
7 | g.87600806T>C | CA2683610048 | ABCB1 | c.-58A>G (n.-58A>G) c.153A>G (p.Gly51=) | gnomAD v4 |
7 | g.87600807C>A | CA2683610049 | ABCB1 | c.-59G>T (n.-59G>T) c.152G>T (p.Gly51Val) | gnomAD v4 |
7 | g.87600808C>A | CA2683610050 | ABCB1 | c.-60G>T (n.-60G>T) c.151G>T (p.Gly51Ter) | gnomAD v4 |
7 | g.87600808C>T | CA2776827972 | ABCB1 | c.-60G>A (n.-60G>A) c.151G>A (p.Gly51Arg) | |
7 | g.87600809G>A | CA2683610051 | ABCB1 | c.-61C>T (n.-61C>T) c.150C>T (p.Val50=) | gnomAD v4 |
7 | g.87600809G= | CA1723661752 | ABCB1 | c.-61C= (n.-61C=) c.150C= (p.Val50=) | |
7 | g.87600809G>T | CA1723661753 | ABCB1 | c.-61C>A (n.-61C>A) c.150C>A (p.Val50=) | dbSNP gnomAD v4 |
7 | g.87600810A>G | CA2683610052 | ABCB1 | c.-62T>C (n.-62T>C) c.149T>C (p.Val50Ala) | gnomAD v4 |
7 | g.87600811C>A | CA2683610053 | ABCB1 | c.-63G>T (n.-63G>T) c.148G>T (p.Val50Phe) | gnomAD v4 |
7 | g.87600812T>G | CA1104137037 | ABCB1 | c.-64A>C (n.-64A>C) c.147A>C (p.Lys49Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87600812T= | CA1723661754 | ABCB1 | c.-64A= (n.-64A=) c.147A= (p.Lys49=) | |
7 | g.87600814T>C | CA2776827973 | ABCB1 | c.-66A>G (n.-66A>G) n.581A>G c.145A>G (p.Lys49Glu) | |
7 | g.87600815A>G | CA2683610054 | ABCB1 | c.-67T>C (n.-67T>C) n.580T>C c.144T>C (p.Thr48=) | gnomAD v4 |
7 | g.87600816G>A | CA2683610055 | ABCB1 | c.-68C>T (n.-68C>T) n.579C>T c.143C>T (p.Thr48Ile) | gnomAD v4 |
7 | g.87600816G>C | CA2683610056 | ABCB1 | c.-68C>G (n.-68C>G) n.579C>G c.143C>G (p.Thr48Ser) | gnomAD v4 |
7 | g.87600816G>T | CA2564520153 | ABCB1 | c.-68C>A (n.-68C>A) n.579C>A c.143C>A (p.Thr48Asn) | |
7 | g.87600817T>C | CA2683610057 | ABCB1 | c.-69A>G (n.-69A>G) n.578A>G c.142A>G (p.Thr48Ala) | gnomAD v4 |
7 | g.87600818G>A | CA576126778 | ABCB1 | c.-70C>T (n.-70C>T) n.577C>T c.141C>T (p.Ser47=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87600818G= | CA1723661755 | ABCB1 | c.-70C= (n.-70C=) n.577C= c.141C= (p.Ser47=) | |
7 | g.87600818G>T | CA2683610058 | ABCB1 | c.-70C>A (n.-70C>A) n.577C>A c.141C>A (p.Ser47=) | gnomAD v4 |
7 | g.87600819G>A | CA162474280 | ABCB1 | c.-71C>T (n.-71C>T) n.576C>T c.140C>T (p.Ser47Phe) | dbSNP |
7 | g.87600819G= | CA1723661756 | ABCB1 | c.-71C= (n.-71C=) n.576C= c.140C= (p.Ser47=) | |
7 | g.87600820A>G | CA2683610059 | ABCB1 | c.-72T>C (n.-72T>C) n.575T>C c.139T>C (p.Ser47Pro) | gnomAD v4 |
7 | g.87600822A= | CA1723661757 | ABCB1 | c.-74T= (n.-74T=) n.573T= c.137T= (p.Leu46=) | |
7 | g.87600822A>C | CA1723661758 | ABCB1 | c.-74T>G (n.-74T>G) n.573T>G c.137T>G (p.Leu46Arg) | dbSNP |
7 | g.87600822A>G | CA1723661759 | ABCB1 | c.-74T>C (n.-74T>C) n.573T>C c.137T>C (p.Leu46Pro) | dbSNP |
7 | g.87600823G= | CA1723661760 | ABCB1 | c.-75C= (n.-75C=) n.572C= c.136C= (p.Leu46=) | |
7 | g.87600823G>T | CA1723661761 | ABCB1 | c.-75C>A (n.-75C>A) n.572C>A c.136C>A (p.Leu46Ile) | dbSNP gnomAD v4 |
7 | g.87600824A= | CA1723661762 | ABCB1 | c.-76T= (n.-76T=) n.571T= c.135T= (p.Gly45=) |