Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119415077_119415085del | CA2554152 | ARHGAP31 | c.3148_3156del (p.Leu1050_His1052del) c.3055_3063del (p.Leu1019_His1021del) c.3088_3096del (p.Leu1030_His1032del) c.2656_2664del (p.Leu886_His888del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119415088_119415097del | CA2667116152 | ARHGAP31 | c.3159_3168del (p.Ser1053ArgfsTer?) c.3066_3075del (p.Ser1022ArgfsTer?) c.3099_3108del (p.Ser1033ArgfsTer?) c.2667_2676del (p.Ser889ArgfsTer?) | gnomAD v4 |
3 | g.119415085C>A | CA354054906 | ARHGAP31 | c.3156C>A (p.His1052Gln) c.3063C>A (p.His1021Gln) c.3096C>A (p.His1032Gln) c.2664C>A (p.His888Gln) | |
3 | g.119415085C>G | CA354054908 | ARHGAP31 | c.3156C>G (p.His1052Gln) c.3063C>G (p.His1021Gln) c.3096C>G (p.His1032Gln) c.2664C>G (p.His888Gln) | |
3 | g.119415085C>T | CA435412164 | ARHGAP31 | c.3156C>T (p.His1052=) c.3063C>T (p.His1021=) c.3096C>T (p.His1032=) c.2664C>T (p.His888=) | gnomAD v4 |
3 | g.119415086A>C | CA354054910 | ARHGAP31 | c.3157A>C (p.Ser1053Arg) c.3064A>C (p.Ser1022Arg) c.3097A>C (p.Ser1033Arg) c.2665A>C (p.Ser889Arg) | |
3 | g.119415086A>G | CA354054912 | ARHGAP31 | c.3157A>G (p.Ser1053Gly) c.3064A>G (p.Ser1022Gly) c.3097A>G (p.Ser1033Gly) c.2665A>G (p.Ser889Gly) | |
3 | g.119415086A>T | CA354054914 | ARHGAP31 | c.3157A>T (p.Ser1053Cys) c.3064A>T (p.Ser1022Cys) c.3097A>T (p.Ser1033Cys) c.2665A>T (p.Ser889Cys) | |
3 | g.119415087G>A | CA2554154 | ARHGAP31 | c.3158G>A (p.Ser1053Asn) c.3065G>A (p.Ser1022Asn) c.3098G>A (p.Ser1033Asn) c.2666G>A (p.Ser889Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119415087G>C | CA354054917 | ARHGAP31 | c.3158G>C (p.Ser1053Thr) c.3065G>C (p.Ser1022Thr) c.3098G>C (p.Ser1033Thr) c.2666G>C (p.Ser889Thr) | |
3 | g.119415087G= | CA1396548947 | ARHGAP31 | c.3158G= (p.Ser1053=) c.3065G= (p.Ser1022=) c.3098G= (p.Ser1033=) c.2666G= (p.Ser889=) | |
3 | g.119415087G>T | CA354054919 | ARHGAP31 | c.3158G>T (p.Ser1053Ile) c.3065G>T (p.Ser1022Ile) c.3098G>T (p.Ser1033Ile) c.2666G>T (p.Ser889Ile) | |
3 | g.119415088C>A | CA354054921 | ARHGAP31 | c.3159C>A (p.Ser1053Arg) c.3066C>A (p.Ser1022Arg) c.3099C>A (p.Ser1033Arg) c.2667C>A (p.Ser889Arg) | dbSNP |
3 | g.119415088C= | CA1396548948 | ARHGAP31 | c.3159C= (p.Ser1053=) c.3066C= (p.Ser1022=) c.3099C= (p.Ser1033=) c.2667C= (p.Ser889=) | |
3 | g.119415088C>G | CA354054923 | ARHGAP31 | c.3159C>G (p.Ser1053Arg) c.3066C>G (p.Ser1022Arg) c.3099C>G (p.Ser1033Arg) c.2667C>G (p.Ser889Arg) | gnomAD v4 |
3 | g.119415088C>T | CA435412167 | ARHGAP31 | c.3159C>T (p.Ser1053=) c.3066C>T (p.Ser1022=) c.3099C>T (p.Ser1033=) c.2667C>T (p.Ser889=) | |
3 | g.119415089A= | CA1396548949 | ARHGAP31 | c.3160A= (p.Ser1054=) c.3067A= (p.Ser1023=) c.3100A= (p.Ser1034=) c.2668A= (p.Ser890=) | |
3 | g.119415089A>C | CA2554155 | ARHGAP31 | c.3160A>C (p.Ser1054Arg) c.3067A>C (p.Ser1023Arg) c.3100A>C (p.Ser1034Arg) c.2668A>C (p.Ser890Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119415089A>G | CA354054926 | ARHGAP31 | c.3160A>G (p.Ser1054Gly) c.3067A>G (p.Ser1023Gly) c.3100A>G (p.Ser1034Gly) c.2668A>G (p.Ser890Gly) | |
3 | g.119415089A>T | CA354054928 | ARHGAP31 | c.3160A>T (p.Ser1054Cys) c.3067A>T (p.Ser1023Cys) c.3100A>T (p.Ser1034Cys) c.2668A>T (p.Ser890Cys) | |
3 | g.119415090G>A | CA354054930 | ARHGAP31 | c.3161G>A (p.Ser1054Asn) c.3068G>A (p.Ser1023Asn) c.3101G>A (p.Ser1034Asn) c.2669G>A (p.Ser890Asn) | |
3 | g.119415090G>C | CA354054931 | ARHGAP31 | c.3161G>C (p.Ser1054Thr) c.3068G>C (p.Ser1023Thr) c.3101G>C (p.Ser1034Thr) c.2669G>C (p.Ser890Thr) | |
3 | g.119415090G>T | CA354054933 | ARHGAP31 | c.3161G>T (p.Ser1054Ile) c.3068G>T (p.Ser1023Ile) c.3101G>T (p.Ser1034Ile) c.2669G>T (p.Ser890Ile) | |
3 | g.119415091T>A | CA354054936 | ARHGAP31 | c.3162T>A (p.Ser1054Arg) c.3069T>A (p.Ser1023Arg) c.3102T>A (p.Ser1034Arg) c.2670T>A (p.Ser890Arg) | |
3 | g.119415091T>C | CA435412169 | ARHGAP31 | c.3162T>C (p.Ser1054=) c.3069T>C (p.Ser1023=) c.3102T>C (p.Ser1034=) c.2670T>C (p.Ser890=) | |
3 | g.119415091T>G | CA354054937 | ARHGAP31 | c.3162T>G (p.Ser1054Arg) c.3069T>G (p.Ser1023Arg) c.3102T>G (p.Ser1034Arg) c.2670T>G (p.Ser890Arg) | |
3 | g.119415092C>A | CA354054940 | ARHGAP31 | c.3163C>A (p.Pro1055Thr) c.3070C>A (p.Pro1024Thr) c.3103C>A (p.Pro1035Thr) c.2671C>A (p.Pro891Thr) | |
3 | g.119415092C>G | CA354054941 | ARHGAP31 | c.3163C>G (p.Pro1055Ala) c.3070C>G (p.Pro1024Ala) c.3103C>G (p.Pro1035Ala) c.2671C>G (p.Pro891Ala) | |
3 | g.119415092C>T | CA354054943 | ARHGAP31 | c.3163C>T (p.Pro1055Ser) c.3070C>T (p.Pro1024Ser) c.3103C>T (p.Pro1035Ser) c.2671C>T (p.Pro891Ser) | |
3 | g.119415093C>A | CA354054944 | ARHGAP31 | c.3164C>A (p.Pro1055Gln) c.3071C>A (p.Pro1024Gln) c.3104C>A (p.Pro1035Gln) c.2672C>A (p.Pro891Gln) | |
3 | g.119415093C>G | CA354054945 | ARHGAP31 | c.3164C>G (p.Pro1055Arg) c.3071C>G (p.Pro1024Arg) c.3104C>G (p.Pro1035Arg) c.2672C>G (p.Pro891Arg) | |
3 | g.119415093C>T | CA354054947 | ARHGAP31 | c.3164C>T (p.Pro1055Leu) c.3071C>T (p.Pro1024Leu) c.3104C>T (p.Pro1035Leu) c.2672C>T (p.Pro891Leu) | gnomAD v4 |
3 | g.119415094A>C | CA435412172 | ARHGAP31 | c.3165A>C (p.Pro1055=) c.3072A>C (p.Pro1024=) c.3105A>C (p.Pro1035=) c.2673A>C (p.Pro891=) | |
3 | g.119415094A>G | CA435412173 | ARHGAP31 | c.3165A>G (p.Pro1055=) c.3072A>G (p.Pro1024=) c.3105A>G (p.Pro1035=) c.2673A>G (p.Pro891=) | |
3 | g.119415094A>T | CA435412175 | ARHGAP31 | c.3165A>T (p.Pro1055=) c.3072A>T (p.Pro1024=) c.3105A>T (p.Pro1035=) c.2673A>T (p.Pro891=) | |
3 | g.119415095C>A | CA354054953 | ARHGAP31 | c.3166C>A (p.Gln1056Lys) c.3073C>A (p.Gln1025Lys) c.3106C>A (p.Gln1036Lys) c.2674C>A (p.Gln892Lys) | |
3 | g.119415095C>G | CA354054951 | ARHGAP31 | c.3166C>G (p.Gln1056Glu) c.3073C>G (p.Gln1025Glu) c.3106C>G (p.Gln1036Glu) c.2674C>G (p.Gln892Glu) | COSMIC |
3 | g.119415095C>T | CA354054949 | ARHGAP31 | c.3166C>T (p.Gln1056Ter) c.3073C>T (p.Gln1025Ter) c.3106C>T (p.Gln1036Ter) c.2674C>T (p.Gln892Ter) | |
3 | g.119415096A= | CA1396548950 | ARHGAP31 | c.3167A= (p.Gln1056=) c.3074A= (p.Gln1025=) c.3107A= (p.Gln1036=) c.2675A= (p.Gln892=) | |
3 | g.119415096A>C | CA354054955 | ARHGAP31 | c.3167A>C (p.Gln1056Pro) c.3074A>C (p.Gln1025Pro) c.3107A>C (p.Gln1036Pro) c.2675A>C (p.Gln892Pro) | |
3 | g.119415096A>G | CA354054956 | ARHGAP31 | c.3167A>G (p.Gln1056Arg) c.3074A>G (p.Gln1025Arg) c.3107A>G (p.Gln1036Arg) c.2675A>G (p.Gln892Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119415096A>T | CA354054959 | ARHGAP31 | c.3167A>T (p.Gln1056Leu) c.3074A>T (p.Gln1025Leu) c.3107A>T (p.Gln1036Leu) c.2675A>T (p.Gln892Leu) | gnomAD v4 |
3 | g.119415097G>A | CA435412178 | ARHGAP31 | c.3168G>A (p.Gln1056=) c.3075G>A (p.Gln1025=) c.3108G>A (p.Gln1036=) c.2676G>A (p.Gln892=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119415097G>C | CA354054961 | ARHGAP31 | c.3168G>C (p.Gln1056His) c.3075G>C (p.Gln1025His) c.3108G>C (p.Gln1036His) c.2676G>C (p.Gln892His) | |
3 | g.119415097G= | CA1396548951 | ARHGAP31 | c.3168G= (p.Gln1056=) c.3075G= (p.Gln1025=) c.3108G= (p.Gln1036=) c.2676G= (p.Gln892=) | |
3 | g.119415097G>T | CA354054963 | ARHGAP31 | c.3168G>T (p.Gln1056His) c.3075G>T (p.Gln1025His) c.3108G>T (p.Gln1036His) c.2676G>T (p.Gln892His) | |
3 | g.119415098A>C | CA354054966 | ARHGAP31 | c.3169A>C (p.Ile1057Leu) c.3076A>C (p.Ile1026Leu) c.3109A>C (p.Ile1037Leu) c.2677A>C (p.Ile893Leu) | |
3 | g.119415098A>G | CA354054967 | ARHGAP31 | c.3169A>G (p.Ile1057Val) c.3076A>G (p.Ile1026Val) c.3109A>G (p.Ile1037Val) c.2677A>G (p.Ile893Val) | gnomAD v4 |
3 | g.119415098A>T | CA354054969 | ARHGAP31 | c.3169A>T (p.Ile1057Phe) c.3076A>T (p.Ile1026Phe) c.3109A>T (p.Ile1037Phe) c.2677A>T (p.Ile893Phe) | |
3 | g.119415099T>A | CA354054972 | ARHGAP31 | c.3170T>A (p.Ile1057Asn) c.3077T>A (p.Ile1026Asn) c.3110T>A (p.Ile1037Asn) c.2678T>A (p.Ile893Asn) |