Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.71756849A= | CA1467373235 | GC | c.897T= (p.Cys299=) n.781T= c.954T= (p.Cys318=) | |
4 | g.71756849A>C | CA357204929 | GC | c.897T>G (p.Cys299Trp) n.781T>G c.954T>G (p.Cys318Trp) | |
4 | g.71756849A>G | CA2955549 | GC | c.897T>C (p.Cys299=) n.781T>C c.954T>C (p.Cys318=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.71756849A>T | CA357204930 | GC | c.897T>A (p.Cys299Ter) n.781T>A c.954T>A (p.Cys318Ter) | |
4 | g.71756850C>A | CA357204933 | GC | c.896G>T (p.Cys299Phe) n.780G>T c.953G>T (p.Cys318Phe) | |
4 | g.71756850C>G | CA357204931 | GC | c.896G>C (p.Cys299Ser) n.780G>C c.953G>C (p.Cys318Ser) | |
4 | g.71756850C>T | CA357204932 | GC | c.896G>A (p.Cys299Tyr) n.780G>A c.953G>A (p.Cys318Tyr) | gnomAD v4 |
4 | g.71756851A= | CA1467373236 | GC | c.895T= (p.Cys299=) n.779T= c.952T= (p.Cys318=) | |
4 | g.71756851A>C | CA357204934 | GC | c.895T>G (p.Cys299Gly) n.779T>G c.952T>G (p.Cys318Gly) | |
4 | g.71756851A>G | CA357204935 | GC | c.895T>C (p.Cys299Arg) n.779T>C c.952T>C (p.Cys318Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.71756851A>T | CA357204936 | GC | c.895T>A (p.Cys299Ser) n.779T>A c.952T>A (p.Cys318Ser) | |
4 | g.71756852G>A | CA439795825 | GC | c.894C>T (p.Asp298=) n.778C>T c.951C>T (p.Asp317=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.71756852G>C | CA99065873 | GC | c.894C>G (p.Asp298Glu) n.778C>G c.951C>G (p.Asp317Glu) | dbSNP |
4 | g.71756852G= | CA1467373237 | GC | c.894C= (p.Asp298=) n.778C= c.951C= (p.Asp317=) | |
4 | g.71756852G>T | CA357204937 | GC | c.894C>A (p.Asp298Glu) n.778C>A c.951C>A (p.Asp317Glu) | |
4 | g.71756853T>A | CA357204938 | GC | c.893A>T (p.Asp298Val) n.777A>T c.950A>T (p.Asp317Val) | |
4 | g.71756853T>C | CA357204939 | GC | c.893A>G (p.Asp298Gly) n.777A>G c.950A>G (p.Asp317Gly) | dbSNP |
4 | g.71756853T>G | CA357204940 | GC | c.893A>C (p.Asp298Ala) n.777A>C c.950A>C (p.Asp317Ala) | |
4 | g.71756854C>A | CA357204941 | GC | c.892G>T (p.Asp298Tyr) n.776G>T c.949G>T (p.Asp317Tyr) | |
4 | g.71756854C>G | CA357204942 | GC | c.892G>C (p.Asp298His) n.776G>C c.949G>C (p.Asp317His) | gnomAD v4 |
4 | g.71756854C>T | CA357204943 | GC | c.892G>A (p.Asp298Asn) n.776G>A c.949G>A (p.Asp317Asn) | gnomAD v4 |
4 | g.71756855T>A | CA357204945 | GC | c.891A>T (p.Glu297Asp) n.775A>T c.948A>T (p.Glu316Asp) | |
4 | g.71756855T>C | CA439795826 | GC | c.891A>G (p.Glu297=) n.775A>G c.948A>G (p.Glu316=) | dbSNP |
4 | g.71756855T>G | CA357204944 | GC | c.891A>C (p.Glu297Asp) n.775A>C c.948A>C (p.Glu316Asp) | |
4 | g.71756855T= | CA1467373238 | GC | c.891A= (p.Glu297=) n.775A= c.948A= (p.Glu316=) | |
4 | g.71756855_71756856del | CA2524549929 | GC | c.890_891del (p.Glu297GlyfsTer?) n.774_775del c.947_948del (p.Glu316GlyfsTer?) | |
4 | g.71756856T>A | CA357204946 | GC | c.890A>T (p.Glu297Val) n.774A>T c.947A>T (p.Glu316Val) | |
4 | g.71756856T>C | CA357204947 | GC | c.890A>G (p.Glu297Gly) n.774A>G c.947A>G (p.Glu316Gly) | |
4 | g.71756856T>G | CA357204948 | GC | c.890A>C (p.Glu297Ala) n.774A>C c.947A>C (p.Glu316Ala) | |
4 | g.71756857C>A | CA357204949 | GC | c.889G>T (p.Glu297Ter) n.773G>T c.946G>T (p.Glu316Ter) | |
4 | g.71756857C>G | CA357204950 | GC | c.889G>C (p.Glu297Gln) n.773G>C c.946G>C (p.Glu316Gln) | dbSNP |
4 | g.71756857C>T | CA357204951 | GC | c.889G>A (p.Glu297Lys) n.773G>A c.946G>A (p.Glu316Lys) | |
4 | g.71756857_71756858insGT | CA2506207256 | GC | c.888_889insAC (p.Glu297ThrfsTer?) n.772_773insAC c.945_946insAC (p.Glu316ThrfsTer?) | |
4 | g.71756858A>C | CA357204952 | GC | c.888T>G (p.Phe296Leu) n.772T>G c.945T>G (p.Phe315Leu) | |
4 | g.71756858A>G | CA439795827 | GC | c.888T>C (p.Phe296=) n.772T>C c.945T>C (p.Phe315=) | |
4 | g.71756858A>T | CA357204953 | GC | c.888T>A (p.Phe296Leu) n.772T>A c.945T>A (p.Phe315Leu) | |
4 | g.71756859A= | CA1467373239 | GC | c.887T= (p.Phe296=) n.771T= c.944T= (p.Phe315=) | |
4 | g.71756859A>C | CA357204954 | GC | c.887T>G (p.Phe296Cys) n.771T>G c.944T>G (p.Phe315Cys) | gnomAD v4 |
4 | g.71756859A>G | CA357204955 | GC | c.887T>C (p.Phe296Ser) n.771T>C c.944T>C (p.Phe315Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.71756859A>T | CA357204956 | GC | c.887T>A (p.Phe296Tyr) n.771T>A c.944T>A (p.Phe315Tyr) | |
4 | g.71756860A= | CA1467373240 | GC | c.886T= (p.Phe296=) n.770T= c.943T= (p.Phe315=) | |
4 | g.71756860A>C | CA357204957 | GC | c.886T>G (p.Phe296Val) n.770T>G c.943T>G (p.Phe315Val) | |
4 | g.71756860A>G | CA357204958 | GC | c.886T>C (p.Phe296Leu) n.770T>C c.943T>C (p.Phe315Leu) | |
4 | g.71756860A>T | CA99065874 | GC | c.886T>A (p.Phe296Ile) n.770T>A c.943T>A (p.Phe315Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.71756861C>A | CA357204959 | GC | c.885G>T (p.Lys295Asn) n.769G>T c.942G>T (p.Lys314Asn) | |
4 | g.71756861C>G | CA357204960 | GC | c.885G>C (p.Lys295Asn) n.769G>C c.942G>C (p.Lys314Asn) | |
4 | g.71756861C>T | CA439795828 | GC | c.885G>A (p.Lys295=) n.769G>A c.942G>A (p.Lys314=) | |
4 | g.71756862T>A | CA357204961 | GC | c.884A>T (p.Lys295Met) n.768A>T c.941A>T (p.Lys314Met) | |
4 | g.71756862T>C | CA357204962 | GC | c.884A>G (p.Lys295Arg) n.768A>G c.941A>G (p.Lys314Arg) | |
4 | g.71756862T>G | CA357204963 | GC | c.884A>C (p.Lys295Thr) n.768A>C c.941A>C (p.Lys314Thr) |