UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77688844G>A | CA413722490 | ATRX | c.568C>T (p.Pro190Ser) c.454C>T (p.Pro152Ser) c.*196C>T (n.*196C>T) c.403C>T (p.Pro135Ser) c.451C>T (p.Pro151Ser) c.289C>T (p.Pro97Ser) c.383C>T c.565C>T (p.Pro189Ser) n.836C>T c.448C>T (p.Pro150Ser) c.400C>T (p.Pro134Ser) c.337C>T (p.Pro113Ser) c.334C>T (p.Pro112Ser) c.286C>T (p.Pro96Ser) n.793C>T | dbSNP |
| X | g.77688844G>C | CA256044 | ATRX | c.568C>G (p.Pro190Ala) c.454C>G (p.Pro152Ala) c.*196C>G (n.*196C>G) c.403C>G (p.Pro135Ala) c.451C>G (p.Pro151Ala) c.289C>G (p.Pro97Ala) c.383C>G c.565C>G (p.Pro189Ala) n.836C>G c.448C>G (p.Pro150Ala) c.400C>G (p.Pro134Ala) c.337C>G (p.Pro113Ala) c.334C>G (p.Pro112Ala) c.286C>G (p.Pro96Ala) n.793C>G | ClinVar dbSNP |
| X | g.77688844G= | CA2438989331 | ATRX | c.568C= (p.Pro190=) c.454C= (p.Pro152=) c.*196C= (n.*196C=) c.403C= (p.Pro135=) c.451C= (p.Pro151=) c.289C= (p.Pro97=) c.383C= c.565C= (p.Pro189=) n.836C= c.448C= (p.Pro150=) c.400C= (p.Pro134=) c.337C= (p.Pro113=) c.334C= (p.Pro112=) c.286C= (p.Pro96=) n.793C= | |
| X | g.77688844G>T | CA413722489 | ATRX | c.568C>A (p.Pro190Thr) c.454C>A (p.Pro152Thr) c.*196C>A (n.*196C>A) c.403C>A (p.Pro135Thr) c.451C>A (p.Pro151Thr) c.289C>A (p.Pro97Thr) c.383C>A c.565C>A (p.Pro189Thr) n.836C>A c.448C>A (p.Pro150Thr) c.400C>A (p.Pro134Thr) c.337C>A (p.Pro113Thr) c.334C>A (p.Pro112Thr) c.286C>A (p.Pro96Thr) n.793C>A | dbSNP gnomAD v4 |
| X | g.77688845G>A | CA517377224 | ATRX | c.567C>T (p.His189=) c.453C>T (p.His151=) c.*195C>T (n.*195C>T) c.402C>T (p.His134=) c.450C>T (p.His150=) c.288C>T (p.His96=) c.382C>T c.564C>T (p.His188=) n.835C>T c.447C>T (p.His149=) c.399C>T (p.His133=) c.336C>T (p.His112=) c.333C>T (p.His111=) c.285C>T (p.His95=) n.792C>T | ClinVar dbSNP gnomAD v4 |
| X | g.77688845G>C | CA413722491 | ATRX | c.567C>G (p.His189Gln) c.453C>G (p.His151Gln) c.*195C>G (n.*195C>G) c.402C>G (p.His134Gln) c.450C>G (p.His150Gln) c.288C>G (p.His96Gln) c.382C>G c.564C>G (p.His188Gln) n.835C>G c.447C>G (p.His149Gln) c.399C>G (p.His133Gln) c.336C>G (p.His112Gln) c.333C>G (p.His111Gln) c.285C>G (p.His95Gln) n.792C>G | dbSNP |
| X | g.77688845G= | CA2438989332 | ATRX | c.567C= (p.His189=) c.453C= (p.His151=) c.*195C= (n.*195C=) c.402C= (p.His134=) c.450C= (p.His150=) c.288C= (p.His96=) c.382C= c.564C= (p.His188=) n.835C= c.447C= (p.His149=) c.399C= (p.His133=) c.336C= (p.His112=) c.333C= (p.His111=) c.285C= (p.His95=) n.792C= | |
| X | g.77688845G>T | CA413722492 | ATRX | c.567C>A (p.His189Gln) c.453C>A (p.His151Gln) c.*195C>A (n.*195C>A) c.402C>A (p.His134Gln) c.450C>A (p.His150Gln) c.288C>A (p.His96Gln) c.382C>A c.564C>A (p.His188Gln) n.835C>A c.447C>A (p.His149Gln) c.399C>A (p.His133Gln) c.336C>A (p.His112Gln) c.333C>A (p.His111Gln) c.285C>A (p.His95Gln) n.792C>A | |
| X | g.77688846T>A | CA413722493 | ATRX | c.566A>T (p.His189Leu) c.452A>T (p.His151Leu) c.*194A>T (n.*194A>T) c.401A>T (p.His134Leu) c.449A>T (p.His150Leu) c.287A>T (p.His96Leu) c.381A>T c.563A>T (p.His188Leu) n.834A>T c.446A>T (p.His149Leu) c.398A>T (p.His133Leu) c.335A>T (p.His112Leu) c.332A>T (p.His111Leu) c.284A>T (p.His95Leu) n.791A>T | dbSNP |
| X | g.77688846T>C | CA413722494 | ATRX | c.566A>G (p.His189Arg) c.452A>G (p.His151Arg) c.*194A>G (n.*194A>G) c.401A>G (p.His134Arg) c.449A>G (p.His150Arg) c.287A>G (p.His96Arg) c.381A>G c.563A>G (p.His188Arg) n.834A>G c.446A>G (p.His149Arg) c.398A>G (p.His133Arg) c.335A>G (p.His112Arg) c.332A>G (p.His111Arg) c.284A>G (p.His95Arg) n.791A>G | |
| X | g.77688846T>G | CA413722495 | ATRX | c.566A>C (p.His189Pro) c.452A>C (p.His151Pro) c.*194A>C (n.*194A>C) c.401A>C (p.His134Pro) c.449A>C (p.His150Pro) c.287A>C (p.His96Pro) c.381A>C c.563A>C (p.His188Pro) n.834A>C c.446A>C (p.His149Pro) c.398A>C (p.His133Pro) c.335A>C (p.His112Pro) c.332A>C (p.His111Pro) c.284A>C (p.His95Pro) n.791A>C | dbSNP |
| X | g.77688847G>A | CA413722496 | ATRX | c.565C>T (p.His189Tyr) c.451C>T (p.His151Tyr) c.*193C>T (n.*193C>T) c.400C>T (p.His134Tyr) c.448C>T (p.His150Tyr) c.286C>T (p.His96Tyr) c.380C>T c.562C>T (p.His188Tyr) n.833C>T c.445C>T (p.His149Tyr) c.397C>T (p.His133Tyr) c.334C>T (p.His112Tyr) c.331C>T (p.His111Tyr) c.283C>T (p.His95Tyr) n.790C>T | ClinVar dbSNP gnomAD v4 |
| X | g.77688847G>C | CA413722498 | ATRX | c.565C>G (p.His189Asp) c.451C>G (p.His151Asp) c.*193C>G (n.*193C>G) c.400C>G (p.His134Asp) c.448C>G (p.His150Asp) c.286C>G (p.His96Asp) c.380C>G c.562C>G (p.His188Asp) n.833C>G c.445C>G (p.His149Asp) c.397C>G (p.His133Asp) c.334C>G (p.His112Asp) c.331C>G (p.His111Asp) c.283C>G (p.His95Asp) n.790C>G | dbSNP |
| X | g.77688847G>T | CA413722499 | ATRX | c.565C>A (p.His189Asn) c.451C>A (p.His151Asn) c.*193C>A (n.*193C>A) c.400C>A (p.His134Asn) c.448C>A (p.His150Asn) c.286C>A (p.His96Asn) c.380C>A c.562C>A (p.His188Asn) n.833C>A c.445C>A (p.His149Asn) c.397C>A (p.His133Asn) c.334C>A (p.His112Asn) c.331C>A (p.His111Asn) c.283C>A (p.His95Asn) n.790C>A | |
| X | g.77688848T>A | CA413722500 | ATRX | c.564A>T (p.Arg188Ser) c.450A>T (p.Arg150Ser) c.*192A>T (n.*192A>T) c.399A>T (p.Arg133Ser) c.447A>T (p.Arg149Ser) c.285A>T (p.Arg95Ser) c.379A>T c.561A>T (p.Arg187Ser) n.832A>T c.444A>T (p.Arg148Ser) c.396A>T (p.Arg132Ser) c.333A>T (p.Arg111Ser) c.330A>T (p.Arg110Ser) c.282A>T (p.Arg94Ser) n.789A>T | dbSNP |
| X | g.77688848T>C | CA517377225 | ATRX | c.564A>G (p.Arg188=) c.450A>G (p.Arg150=) c.*192A>G (n.*192A>G) c.399A>G (p.Arg133=) c.447A>G (p.Arg149=) c.285A>G (p.Arg95=) c.379A>G c.561A>G (p.Arg187=) n.832A>G c.444A>G (p.Arg148=) c.396A>G (p.Arg132=) c.333A>G (p.Arg111=) c.330A>G (p.Arg110=) c.282A>G (p.Arg94=) n.789A>G | ClinVar |
| X | g.77688848T>G | CA413722501 | ATRX | c.564A>C (p.Arg188Ser) c.450A>C (p.Arg150Ser) c.*192A>C (n.*192A>C) c.399A>C (p.Arg133Ser) c.447A>C (p.Arg149Ser) c.285A>C (p.Arg95Ser) c.379A>C c.561A>C (p.Arg187Ser) n.832A>C c.444A>C (p.Arg148Ser) c.396A>C (p.Arg132Ser) c.333A>C (p.Arg111Ser) c.330A>C (p.Arg110Ser) c.282A>C (p.Arg94Ser) n.789A>C | |
| X | g.77688849C>A | CA413722502 | ATRX | c.563G>T (p.Arg188Ile) c.449G>T (p.Arg150Ile) c.*191G>T (n.*191G>T) c.398G>T (p.Arg133Ile) c.446G>T (p.Arg149Ile) c.284G>T (p.Arg95Ile) c.378G>T c.560G>T (p.Arg187Ile) n.831G>T c.443G>T (p.Arg148Ile) c.395G>T (p.Arg132Ile) c.332G>T (p.Arg111Ile) c.329G>T (p.Arg110Ile) c.281G>T (p.Arg94Ile) n.788G>T | |
| X | g.77688849C>G | CA413722503 | ATRX | c.563G>C (p.Arg188Thr) c.449G>C (p.Arg150Thr) c.*191G>C (n.*191G>C) c.398G>C (p.Arg133Thr) c.446G>C (p.Arg149Thr) c.284G>C (p.Arg95Thr) c.378G>C c.560G>C (p.Arg187Thr) n.831G>C c.443G>C (p.Arg148Thr) c.395G>C (p.Arg132Thr) c.332G>C (p.Arg111Thr) c.329G>C (p.Arg110Thr) c.281G>C (p.Arg94Thr) n.788G>C | ClinVar dbSNP |
| X | g.77688849C>T | CA413722504 | ATRX | c.563G>A (p.Arg188Lys) c.449G>A (p.Arg150Lys) c.*191G>A (n.*191G>A) c.398G>A (p.Arg133Lys) c.446G>A (p.Arg149Lys) c.284G>A (p.Arg95Lys) c.378G>A c.560G>A (p.Arg187Lys) n.831G>A c.443G>A (p.Arg148Lys) c.395G>A (p.Arg132Lys) c.332G>A (p.Arg111Lys) c.329G>A (p.Arg110Lys) c.281G>A (p.Arg94Lys) n.788G>A | dbSNP |
| X | g.77688850T>A | CA413722505 | ATRX | c.562A>T (p.Arg188Ter) c.448A>T (p.Arg150Ter) c.*190A>T (n.*190A>T) c.397A>T (p.Arg133Ter) c.445A>T (p.Arg149Ter) c.283A>T (p.Arg95Ter) c.377A>T c.559A>T (p.Arg187Ter) n.830A>T c.442A>T (p.Arg148Ter) c.394A>T (p.Arg132Ter) c.331A>T (p.Arg111Ter) c.328A>T (p.Arg110Ter) c.280A>T (p.Arg94Ter) n.787A>T | COSMIC COSMIC |
| X | g.77688850T>C | CA413722506 | ATRX | c.562A>G (p.Arg188Gly) c.448A>G (p.Arg150Gly) c.*190A>G (n.*190A>G) c.397A>G (p.Arg133Gly) c.445A>G (p.Arg149Gly) c.283A>G (p.Arg95Gly) c.377A>G c.559A>G (p.Arg187Gly) n.830A>G c.442A>G (p.Arg148Gly) c.394A>G (p.Arg132Gly) c.331A>G (p.Arg111Gly) c.328A>G (p.Arg110Gly) c.280A>G (p.Arg94Gly) n.787A>G | |
| X | g.77688850T>G | CA517377226 | ATRX | c.562A>C (p.Arg188=) c.448A>C (p.Arg150=) c.*190A>C (n.*190A>C) c.397A>C (p.Arg133=) c.445A>C (p.Arg149=) c.283A>C (p.Arg95=) c.377A>C c.559A>C (p.Arg187=) n.830A>C c.442A>C (p.Arg148=) c.394A>C (p.Arg132=) c.331A>C (p.Arg111=) c.328A>C (p.Arg110=) c.280A>C (p.Arg94=) n.787A>C | |
| X | g.77688851A= | CA2438989333 | ATRX | c.561T= (p.Tyr187=) c.447T= (p.Tyr149=) c.*189T= (n.*189T=) c.396T= (p.Tyr132=) c.444T= (p.Tyr148=) c.282T= (p.Tyr94=) c.376T= c.558T= (p.Tyr186=) n.829T= c.441T= (p.Tyr147=) c.393T= (p.Tyr131=) c.330T= (p.Tyr110=) c.327T= (p.Tyr109=) c.279T= (p.Tyr93=) n.786T= | |
| X | g.77688851A>C | CA413722507 | ATRX | c.561T>G (p.Tyr187Ter) c.447T>G (p.Tyr149Ter) c.*189T>G (n.*189T>G) c.396T>G (p.Tyr132Ter) c.444T>G (p.Tyr148Ter) c.282T>G (p.Tyr94Ter) c.376T>G c.558T>G (p.Tyr186Ter) n.829T>G c.441T>G (p.Tyr147Ter) c.393T>G (p.Tyr131Ter) c.330T>G (p.Tyr110Ter) c.327T>G (p.Tyr109Ter) c.279T>G (p.Tyr93Ter) n.786T>G | COSMIC COSMIC |
| X | g.77688851A>G | CA517377227 | ATRX | c.561T>C (p.Tyr187=) c.447T>C (p.Tyr149=) c.*189T>C (n.*189T>C) c.396T>C (p.Tyr132=) c.444T>C (p.Tyr148=) c.282T>C (p.Tyr94=) c.376T>C c.558T>C (p.Tyr186=) n.829T>C c.441T>C (p.Tyr147=) c.393T>C (p.Tyr131=) c.330T>C (p.Tyr110=) c.327T>C (p.Tyr109=) c.279T>C (p.Tyr93=) n.786T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77688851A>T | CA413722508 | ATRX | c.561T>A (p.Tyr187Ter) c.447T>A (p.Tyr149Ter) c.*189T>A (n.*189T>A) c.396T>A (p.Tyr132Ter) c.444T>A (p.Tyr148Ter) c.282T>A (p.Tyr94Ter) c.376T>A c.558T>A (p.Tyr186Ter) n.829T>A c.441T>A (p.Tyr147Ter) c.393T>A (p.Tyr131Ter) c.330T>A (p.Tyr110Ter) c.327T>A (p.Tyr109Ter) c.279T>A (p.Tyr93Ter) n.786T>A | dbSNP |
| X | g.77688852T>A | CA413722509 | ATRX | c.560A>T (p.Tyr187Phe) c.446A>T (p.Tyr149Phe) c.*188A>T (n.*188A>T) c.395A>T (p.Tyr132Phe) c.443A>T (p.Tyr148Phe) c.281A>T (p.Tyr94Phe) c.375A>T c.557A>T (p.Tyr186Phe) n.828A>T c.440A>T (p.Tyr147Phe) c.392A>T (p.Tyr131Phe) c.329A>T (p.Tyr110Phe) c.326A>T (p.Tyr109Phe) c.278A>T (p.Tyr93Phe) n.785A>T | |
| X | g.77688852T>C | CA413722510 | ATRX | c.560A>G (p.Tyr187Cys) c.446A>G (p.Tyr149Cys) c.*188A>G (n.*188A>G) c.395A>G (p.Tyr132Cys) c.443A>G (p.Tyr148Cys) c.281A>G (p.Tyr94Cys) c.375A>G c.557A>G (p.Tyr186Cys) n.828A>G c.440A>G (p.Tyr147Cys) c.392A>G (p.Tyr131Cys) c.329A>G (p.Tyr110Cys) c.326A>G (p.Tyr109Cys) c.278A>G (p.Tyr93Cys) n.785A>G | |
| X | g.77688852T>G | CA413722511 | ATRX | c.560A>C (p.Tyr187Ser) c.446A>C (p.Tyr149Ser) c.*188A>C (n.*188A>C) c.395A>C (p.Tyr132Ser) c.443A>C (p.Tyr148Ser) c.281A>C (p.Tyr94Ser) c.375A>C c.557A>C (p.Tyr186Ser) n.828A>C c.440A>C (p.Tyr147Ser) c.392A>C (p.Tyr131Ser) c.329A>C (p.Tyr110Ser) c.326A>C (p.Tyr109Ser) c.278A>C (p.Tyr93Ser) n.785A>C | |
| X | g.77688853A>C | CA413722512 | ATRX | c.559T>G (p.Tyr187Asp) c.445T>G (p.Tyr149Asp) c.*187T>G (n.*187T>G) c.394T>G (p.Tyr132Asp) c.442T>G (p.Tyr148Asp) c.280T>G (p.Tyr94Asp) c.374T>G c.556T>G (p.Tyr186Asp) n.827T>G c.439T>G (p.Tyr147Asp) c.391T>G (p.Tyr131Asp) c.328T>G (p.Tyr110Asp) c.325T>G (p.Tyr109Asp) c.277T>G (p.Tyr93Asp) n.784T>G | |
| X | g.77688853A>G | CA413722513 | ATRX | c.559T>C (p.Tyr187His) c.445T>C (p.Tyr149His) c.*187T>C (n.*187T>C) c.394T>C (p.Tyr132His) c.442T>C (p.Tyr148His) c.280T>C (p.Tyr94His) c.374T>C c.556T>C (p.Tyr186His) n.827T>C c.439T>C (p.Tyr147His) c.391T>C (p.Tyr131His) c.328T>C (p.Tyr110His) c.325T>C (p.Tyr109His) c.277T>C (p.Tyr93His) n.784T>C | |
| X | g.77688853A>T | CA413722514 | ATRX | c.559T>A (p.Tyr187Asn) c.445T>A (p.Tyr149Asn) c.*187T>A (n.*187T>A) c.394T>A (p.Tyr132Asn) c.442T>A (p.Tyr148Asn) c.280T>A (p.Tyr94Asn) c.374T>A c.556T>A (p.Tyr186Asn) n.827T>A c.439T>A (p.Tyr147Asn) c.391T>A (p.Tyr131Asn) c.328T>A (p.Tyr110Asn) c.325T>A (p.Tyr109Asn) c.277T>A (p.Tyr93Asn) n.784T>A | |
| X | g.77688855del | CA2738746319 | ATRX | c.559del (p.Tyr187IlefsTer19) c.445del (p.Tyr149IlefsTer19) c.*187del (n.*187del) c.394del (p.Tyr132IlefsTer19) c.442del (p.Tyr148IlefsTer19) c.280del (p.Tyr94IlefsTer?) c.374del c.556del (p.Tyr186IlefsTer19) c.280del (p.Tyr94IlefsTer19) n.827del c.439del (p.Tyr147IlefsTer19) c.391del (p.Tyr131IlefsTer19) c.328del (p.Tyr110IlefsTer19) c.325del (p.Tyr109IlefsTer19) c.277del (p.Tyr93IlefsTer19) n.784del | dbSNP |
| X | g.77688854A>C | CA413722515 | ATRX | c.558T>G (p.Ile186Met) c.444T>G (p.Ile148Met) c.*186T>G (n.*186T>G) c.393T>G (p.Ile131Met) c.441T>G (p.Ile147Met) c.279T>G (p.Ile93Met) c.373T>G c.555T>G (p.Ile185Met) n.826T>G c.438T>G (p.Ile146Met) c.390T>G (p.Ile130Met) c.327T>G (p.Ile109Met) c.324T>G (p.Ile108Met) c.276T>G (p.Ile92Met) n.783T>G | |
| X | g.77688854A>G | CA517377230 | ATRX | c.558T>C (p.Ile186=) c.444T>C (p.Ile148=) c.*186T>C (n.*186T>C) c.393T>C (p.Ile131=) c.441T>C (p.Ile147=) c.279T>C (p.Ile93=) c.373T>C c.555T>C (p.Ile185=) n.826T>C c.438T>C (p.Ile146=) c.390T>C (p.Ile130=) c.327T>C (p.Ile109=) c.324T>C (p.Ile108=) c.276T>C (p.Ile92=) n.783T>C | |
| X | g.77688854A>T | CA517377229 | ATRX | c.558T>A (p.Ile186=) c.444T>A (p.Ile148=) c.*186T>A (n.*186T>A) c.393T>A (p.Ile131=) c.441T>A (p.Ile147=) c.279T>A (p.Ile93=) c.373T>A c.555T>A (p.Ile185=) n.826T>A c.438T>A (p.Ile146=) c.390T>A (p.Ile130=) c.327T>A (p.Ile109=) c.324T>A (p.Ile108=) c.276T>A (p.Ile92=) n.783T>A | |
| X | g.77688855A>C | CA413722516 | ATRX | c.557T>G (p.Ile186Ser) c.443T>G (p.Ile148Ser) c.*185T>G (n.*185T>G) c.392T>G (p.Ile131Ser) c.440T>G (p.Ile147Ser) c.278T>G (p.Ile93Ser) c.372T>G c.554T>G (p.Ile185Ser) n.825T>G c.437T>G (p.Ile146Ser) c.389T>G (p.Ile130Ser) c.326T>G (p.Ile109Ser) c.323T>G (p.Ile108Ser) c.275T>G (p.Ile92Ser) n.782T>G | |
| X | g.77688855A>G | CA413722517 | ATRX | c.557T>C (p.Ile186Thr) c.443T>C (p.Ile148Thr) c.*185T>C (n.*185T>C) c.392T>C (p.Ile131Thr) c.440T>C (p.Ile147Thr) c.278T>C (p.Ile93Thr) c.372T>C c.554T>C (p.Ile185Thr) n.825T>C c.437T>C (p.Ile146Thr) c.389T>C (p.Ile130Thr) c.326T>C (p.Ile109Thr) c.323T>C (p.Ile108Thr) c.275T>C (p.Ile92Thr) n.782T>C | |
| X | g.77688855A>T | CA413722518 | ATRX | c.557T>A (p.Ile186Asn) c.443T>A (p.Ile148Asn) c.*185T>A (n.*185T>A) c.392T>A (p.Ile131Asn) c.440T>A (p.Ile147Asn) c.278T>A (p.Ile93Asn) c.372T>A c.554T>A (p.Ile185Asn) n.825T>A c.437T>A (p.Ile146Asn) c.389T>A (p.Ile130Asn) c.326T>A (p.Ile109Asn) c.323T>A (p.Ile108Asn) c.275T>A (p.Ile92Asn) n.782T>A | |
| X | g.77688856T>A | CA413722520 | ATRX | c.556A>T (p.Ile186Phe) c.442A>T (p.Ile148Phe) c.*184A>T (n.*184A>T) c.391A>T (p.Ile131Phe) c.439A>T (p.Ile147Phe) c.277A>T (p.Ile93Phe) c.371A>T c.553A>T (p.Ile185Phe) n.824A>T c.436A>T (p.Ile146Phe) c.388A>T (p.Ile130Phe) c.325A>T (p.Ile109Phe) c.322A>T (p.Ile108Phe) c.274A>T (p.Ile92Phe) n.781A>T | dbSNP |
| X | g.77688856T>C | CA413722521 | ATRX | c.556A>G (p.Ile186Val) c.442A>G (p.Ile148Val) c.*184A>G (n.*184A>G) c.391A>G (p.Ile131Val) c.439A>G (p.Ile147Val) c.277A>G (p.Ile93Val) c.371A>G c.553A>G (p.Ile185Val) n.824A>G c.436A>G (p.Ile146Val) c.388A>G (p.Ile130Val) c.325A>G (p.Ile109Val) c.322A>G (p.Ile108Val) c.274A>G (p.Ile92Val) n.781A>G | dbSNP |
| X | g.77688856T>G | CA413722519 | ATRX | c.556A>C (p.Ile186Leu) c.442A>C (p.Ile148Leu) c.*184A>C (n.*184A>C) c.391A>C (p.Ile131Leu) c.439A>C (p.Ile147Leu) c.277A>C (p.Ile93Leu) c.371A>C c.553A>C (p.Ile185Leu) n.824A>C c.436A>C (p.Ile146Leu) c.388A>C (p.Ile130Leu) c.325A>C (p.Ile109Leu) c.322A>C (p.Ile108Leu) c.274A>C (p.Ile92Leu) n.781A>C | |
| X | g.77688856T= | CA2438989334 | ATRX | c.556A= (p.Ile186=) c.442A= (p.Ile148=) c.*184A= (n.*184A=) c.391A= (p.Ile131=) c.439A= (p.Ile147=) c.277A= (p.Ile93=) c.371A= c.553A= (p.Ile185=) n.824A= c.436A= (p.Ile146=) c.388A= (p.Ile130=) c.325A= (p.Ile109=) c.322A= (p.Ile108=) c.274A= (p.Ile92=) n.781A= | |
| X | g.77688857G>A | CA517377231 | ATRX | c.555C>T (p.Ser185=) c.441C>T (p.Ser147=) c.*183C>T (n.*183C>T) c.390C>T (p.Ser130=) c.438C>T (p.Ser146=) c.276C>T (p.Ser92=) c.370C>T c.552C>T (p.Ser184=) n.823C>T c.435C>T (p.Ser145=) c.387C>T (p.Ser129=) c.324C>T (p.Ser108=) c.321C>T (p.Ser107=) c.273C>T (p.Ser91=) n.780C>T | ClinVar dbSNP gnomAD v4 |
| X | g.77688857G>C | CA517377232 | ATRX | c.555C>G (p.Ser185=) c.441C>G (p.Ser147=) c.*183C>G (n.*183C>G) c.390C>G (p.Ser130=) c.438C>G (p.Ser146=) c.276C>G (p.Ser92=) c.370C>G c.552C>G (p.Ser184=) n.823C>G c.435C>G (p.Ser145=) c.387C>G (p.Ser129=) c.324C>G (p.Ser108=) c.321C>G (p.Ser107=) c.273C>G (p.Ser91=) n.780C>G | |
| X | g.77688857G>T | CA517377233 | ATRX | c.555C>A (p.Ser185=) c.441C>A (p.Ser147=) c.*183C>A (n.*183C>A) c.390C>A (p.Ser130=) c.438C>A (p.Ser146=) c.276C>A (p.Ser92=) c.370C>A c.552C>A (p.Ser184=) n.823C>A c.435C>A (p.Ser145=) c.387C>A (p.Ser129=) c.324C>A (p.Ser108=) c.321C>A (p.Ser107=) c.273C>A (p.Ser91=) n.780C>A | |
| X | g.77688858G>A | CA413722524 | ATRX | c.554C>T (p.Ser185Phe) c.440C>T (p.Ser147Phe) c.*182C>T (n.*182C>T) c.389C>T (p.Ser130Phe) c.437C>T (p.Ser146Phe) c.275C>T (p.Ser92Phe) c.369C>T c.551C>T (p.Ser184Phe) n.822C>T c.434C>T (p.Ser145Phe) c.386C>T (p.Ser129Phe) c.323C>T (p.Ser108Phe) c.320C>T (p.Ser107Phe) c.272C>T (p.Ser91Phe) n.779C>T | dbSNP |
| X | g.77688858G>C | CA413722522 | ATRX | c.554C>G (p.Ser185Cys) c.440C>G (p.Ser147Cys) c.*182C>G (n.*182C>G) c.389C>G (p.Ser130Cys) c.437C>G (p.Ser146Cys) c.275C>G (p.Ser92Cys) c.369C>G c.551C>G (p.Ser184Cys) n.822C>G c.434C>G (p.Ser145Cys) c.386C>G (p.Ser129Cys) c.323C>G (p.Ser108Cys) c.320C>G (p.Ser107Cys) c.272C>G (p.Ser91Cys) n.779C>G | dbSNP |
| X | g.77688858G= | CA2438989335 | ATRX | c.554C= (p.Ser185=) c.440C= (p.Ser147=) c.*182C= (n.*182C=) c.389C= (p.Ser130=) c.437C= (p.Ser146=) c.275C= (p.Ser92=) c.369C= c.551C= (p.Ser184=) n.822C= c.434C= (p.Ser145=) c.386C= (p.Ser129=) c.323C= (p.Ser108=) c.320C= (p.Ser107=) c.272C= (p.Ser91=) n.779C= |