Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.48224287C>A | CA395824739 | ABCC11 | c.538G>T (p.Gly180Trp) n.936G>T c.340G>T (p.Gly114Trp) n.3216G>T | gnomAD v4 |
16 | g.48224287C= | CA2220718216 | ABCC11 | c.538G= (p.Gly180=) n.936G= c.340G= (p.Gly114=) n.3216G= | |
16 | g.48224287C>G | CA395824738 | ABCC11 | c.538G>C (p.Gly180Arg) n.936G>C c.340G>C (p.Gly114Arg) n.3216G>C | dbSNP gnomAD v4 |
16 | g.48224287C>T | CA116353 | ABCC11 | c.538G>A (p.Gly180Arg) n.936G>A c.340G>A (p.Gly114Arg) n.3216G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.48224288G>A | CA8044171 | ABCC11 | c.537C>T (p.Leu179=) n.935C>T c.339C>T (p.Leu113=) n.3215C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.48224288G>C | CA495128964 | ABCC11 | c.537C>G (p.Leu179=) n.935C>G c.339C>G (p.Leu113=) n.3215C>G | |
16 | g.48224288G= | CA2220718223 | ABCC11 | c.537C= (p.Leu179=) n.935C= c.339C= (p.Leu113=) n.3215C= | |
16 | g.48224288G>T | CA495128965 | ABCC11 | c.537C>A (p.Leu179=) n.935C>A c.339C>A (p.Leu113=) n.3215C>A | |
16 | g.48224289A>C | CA395824740 | ABCC11 | c.536T>G (p.Leu179Arg) n.934T>G c.338T>G (p.Leu113Arg) n.3214T>G | |
16 | g.48224289A>G | CA395824741 | ABCC11 | c.536T>C (p.Leu179Pro) n.934T>C c.338T>C (p.Leu113Pro) n.3214T>C | |
16 | g.48224289A>T | CA395824742 | ABCC11 | c.536T>A (p.Leu179His) n.934T>A c.338T>A (p.Leu113His) n.3214T>A | |
16 | g.48224290G>A | CA395824743 | ABCC11 | c.535C>T (p.Leu179Phe) n.933C>T c.337C>T (p.Leu113Phe) n.3213C>T | |
16 | g.48224290G>C | CA395824744 | ABCC11 | c.535C>G (p.Leu179Val) n.933C>G c.337C>G (p.Leu113Val) n.3213C>G | gnomAD v4 |
16 | g.48224290G>T | CA395824745 | ABCC11 | c.535C>A (p.Leu179Ile) n.933C>A c.337C>A (p.Leu113Ile) n.3213C>A | |
16 | g.48224291T>A | CA495128966 | ABCC11 | c.534A>T (p.Val178=) n.932A>T c.336A>T (p.Val112=) n.3212A>T | |
16 | g.48224291T>C | CA495128967 | ABCC11 | c.534A>G (p.Val178=) n.932A>G c.336A>G (p.Val112=) n.3212A>G | |
16 | g.48224291T>G | CA495128968 | ABCC11 | c.534A>C (p.Val178=) n.932A>C c.336A>C (p.Val112=) n.3212A>C | |
16 | g.48224292A>C | CA395824746 | ABCC11 | c.533T>G (p.Val178Gly) n.931T>G c.335T>G (p.Val112Gly) n.3211T>G | |
16 | g.48224292A>G | CA395824747 | ABCC11 | c.533T>C (p.Val178Ala) n.931T>C c.335T>C (p.Val112Ala) n.3211T>C | |
16 | g.48224292A>T | CA395824748 | ABCC11 | c.533T>A (p.Val178Glu) n.931T>A c.335T>A (p.Val112Glu) n.3211T>A | |
16 | g.48224293C>A | CA395824749 | ABCC11 | c.532G>T (p.Val178Leu) n.930G>T c.334G>T (p.Val112Leu) n.3210G>T | |
16 | g.48224293C>G | CA395824750 | ABCC11 | c.532G>C (p.Val178Leu) n.930G>C c.334G>C (p.Val112Leu) n.3210G>C | |
16 | g.48224293C>T | CA395824751 | ABCC11 | c.532G>A (p.Val178Ile) n.930G>A c.334G>A (p.Val112Ile) n.3210G>A | dbSNP |
16 | g.48224294A= | CA2220718225 | ABCC11 | c.531T= (p.Ser177=) n.929T= c.333T= (p.Ser111=) n.3209T= | |
16 | g.48224294A>C | CA395824753 | ABCC11 | c.531T>G (p.Ser177Arg) n.929T>G c.333T>G (p.Ser111Arg) n.3209T>G | dbSNP |
16 | g.48224294A>G | CA495128969 | ABCC11 | c.531T>C (p.Ser177=) n.929T>C c.333T>C (p.Ser111=) n.3209T>C | |
16 | g.48224294A>T | CA395824752 | ABCC11 | c.531T>A (p.Ser177Arg) n.929T>A c.333T>A (p.Ser111Arg) n.3209T>A | |
16 | g.48224295C>A | CA395824754 | ABCC11 | c.530G>T (p.Ser177Ile) n.928G>T c.332G>T (p.Ser111Ile) n.3208G>T | |
16 | g.48224295C= | CA2220718231 | ABCC11 | c.530G= (p.Ser177=) n.928G= c.332G= (p.Ser111=) n.3208G= | |
16 | g.48224295C>G | CA395824755 | ABCC11 | c.530G>C (p.Ser177Thr) n.928G>C c.332G>C (p.Ser111Thr) n.3208G>C | |
16 | g.48224295C>T | CA395824756 | ABCC11 | c.530G>A (p.Ser177Asn) n.928G>A c.332G>A (p.Ser111Asn) n.3208G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.48224296T>A | CA395824757 | ABCC11 | c.529A>T (p.Ser177Cys) n.927A>T c.331A>T (p.Ser111Cys) n.3207A>T | COSMIC |
16 | g.48224296T>C | CA395824758 | ABCC11 | c.529A>G (p.Ser177Gly) n.927A>G c.331A>G (p.Ser111Gly) n.3207A>G | gnomAD v4 |
16 | g.48224296T>G | CA395824759 | ABCC11 | c.529A>C (p.Ser177Arg) n.927A>C c.331A>C (p.Ser111Arg) n.3207A>C | dbSNP gnomAD v4 |
16 | g.48224296T= | CA2220718235 | ABCC11 | c.529A= (p.Ser177=) n.927A= c.331A= (p.Ser111=) n.3207A= | |
16 | g.48224297G>A | CA495128970 | ABCC11 | c.528C>T (p.Ala176=) n.926C>T c.330C>T (p.Ala110=) n.3206C>T | |
16 | g.48224297G>C | CA495128971 | ABCC11 | c.528C>G (p.Ala176=) n.926C>G c.330C>G (p.Ala110=) n.3206C>G | |
16 | g.48224297G>T | CA495128972 | ABCC11 | c.528C>A (p.Ala176=) n.926C>A c.330C>A (p.Ala110=) n.3206C>A | |
16 | g.48224298G>A | CA395824760 | ABCC11 | c.527C>T (p.Ala176Val) n.925C>T c.329C>T (p.Ala110Val) n.3205C>T | |
16 | g.48224298G>C | CA395824761 | ABCC11 | c.527C>G (p.Ala176Gly) n.925C>G c.329C>G (p.Ala110Gly) n.3205C>G | |
16 | g.48224298G>T | CA395824762 | ABCC11 | c.527C>A (p.Ala176Asp) n.925C>A c.329C>A (p.Ala110Asp) n.3205C>A | gnomAD v4 |
16 | g.48224299C>A | CA395824763 | ABCC11 | c.526G>T (p.Ala176Ser) n.924G>T c.328G>T (p.Ala110Ser) n.3204G>T | |
16 | g.48224299C>G | CA395824764 | ABCC11 | c.526G>C (p.Ala176Pro) n.924G>C c.328G>C (p.Ala110Pro) n.3204G>C | |
16 | g.48224299C>T | CA395824765 | ABCC11 | c.526G>A (p.Ala176Thr) n.924G>A c.328G>A (p.Ala110Thr) n.3204G>A | |
16 | g.48224300A>C | CA395824766 | ABCC11 | c.525T>G (p.Ile175Met) n.923T>G c.327T>G (p.Ile109Met) n.3203T>G | gnomAD v4 |
16 | g.48224300A>G | CA495128974 | ABCC11 | c.525T>C (p.Ile175=) n.923T>C c.327T>C (p.Ile109=) n.3203T>C | |
16 | g.48224300A>T | CA495128973 | ABCC11 | c.525T>A (p.Ile175=) n.923T>A c.327T>A (p.Ile109=) n.3203T>A | gnomAD v4 |
16 | g.48224301dup | CA2633067835 | ABCC11 | c.525dup (p.Ala176CysfsTer?) n.923dup c.327dup (p.Ala110CysfsTer?) n.3203dup | gnomAD v4 |
16 | g.48224301A= | CA2220718238 | ABCC11 | c.524T= (p.Ile175=) n.922T= c.326T= (p.Ile109=) n.3202T= | |
16 | g.48224301A>C | CA395824768 | ABCC11 | c.524T>G (p.Ile175Ser) n.922T>G c.326T>G (p.Ile109Ser) n.3202T>G |