WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7467398_7467418del | CA2576596228 | ARHGEF18 | c.2153_2173del (p.His718_Glu724del) c.2468_2488del (p.His823_Glu829del) c.2156_2176del (p.His719_Glu725del) c.3194_3214del (p.His1065_Glu1071del) c.2630_2650del (p.His877_Glu883del) c.1545_1565del c.2430_2450del c.3389_3409del (p.His1130_Glu1136del) c.3146_3166del (p.His1049_Glu1055del) | gnomAD v4 |
| 19 | g.7467406_7467516del | CA2587935237 | ARHGEF18 | c.2161_2271del (p.Gln721_Gln757del) c.2476_2586del (p.Gln826_Gln862del) c.2164_2274del (p.Gln722_Gln758del) c.3202_3312del (p.Gln1068_Gln1104del) c.2638_2748del (p.Gln880_Gln916del) c.1553_1663del c.2438_2548del c.3397_3507del (p.Gln1133_Gln1169del) c.3154_3264del (p.Gln1052_Gln1088del) | gnomAD v4 |
| 19 | g.7467406C>A | CA403087946 | ARHGEF18 | c.2161C>A (p.Gln721Lys) c.2476C>A (p.Gln826Lys) c.2164C>A (p.Gln722Lys) c.3202C>A (p.Gln1068Lys) c.2638C>A (p.Gln880Lys) c.1553C>A c.2438C>A c.3397C>A (p.Gln1133Lys) c.3154C>A (p.Gln1052Lys) | gnomAD v4 |
| 19 | g.7467406C>G | CA403087953 | ARHGEF18 | c.2161C>G (p.Gln721Glu) c.2476C>G (p.Gln826Glu) c.2164C>G (p.Gln722Glu) c.3202C>G (p.Gln1068Glu) c.2638C>G (p.Gln880Glu) c.1553C>G c.2438C>G c.3397C>G (p.Gln1133Glu) c.3154C>G (p.Gln1052Glu) | |
| 19 | g.7467406C>T | CA403087960 | ARHGEF18 | c.2161C>T (p.Gln721Ter) c.2476C>T (p.Gln826Ter) c.2164C>T (p.Gln722Ter) c.3202C>T (p.Gln1068Ter) c.2638C>T (p.Gln880Ter) c.1553C>T c.2438C>T c.3397C>T (p.Gln1133Ter) c.3154C>T (p.Gln1052Ter) | gnomAD v4 |
| 19 | g.7467407A= | CA2320932331 | ARHGEF18 | c.2162A= (p.Gln721=) c.2477A= (p.Gln826=) c.2165A= (p.Gln722=) c.3203A= (p.Gln1068=) c.2639A= (p.Gln880=) c.1554A= c.2439A= c.3398A= (p.Gln1133=) c.3155A= (p.Gln1052=) | |
| 19 | g.7467407A>C | CA304856522 | ARHGEF18 | c.2162A>C (p.Gln721Pro) c.2477A>C (p.Gln826Pro) c.2165A>C (p.Gln722Pro) c.3203A>C (p.Gln1068Pro) c.2639A>C (p.Gln880Pro) c.1554A>C c.2439A>C c.3398A>C (p.Gln1133Pro) c.3155A>C (p.Gln1052Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7467407A>G | CA403087969 | ARHGEF18 | c.2162A>G (p.Gln721Arg) c.2477A>G (p.Gln826Arg) c.2165A>G (p.Gln722Arg) c.3203A>G (p.Gln1068Arg) c.2639A>G (p.Gln880Arg) c.1554A>G c.2439A>G c.3398A>G (p.Gln1133Arg) c.3155A>G (p.Gln1052Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7467407A>T | CA403087972 | ARHGEF18 | c.2162A>T (p.Gln721Leu) c.2477A>T (p.Gln826Leu) c.2165A>T (p.Gln722Leu) c.3203A>T (p.Gln1068Leu) c.2639A>T (p.Gln880Leu) c.1554A>T c.2439A>T c.3398A>T (p.Gln1133Leu) c.3155A>T (p.Gln1052Leu) | |
| 19 | g.7467408G>A | CA505401008 | ARHGEF18 | c.2163G>A (p.Gln721=) c.2478G>A (p.Gln826=) c.2166G>A (p.Gln722=) c.3204G>A (p.Gln1068=) c.2640G>A (p.Gln880=) c.1555G>A c.2440G>A c.3399G>A (p.Gln1133=) c.3156G>A (p.Gln1052=) | |
| 19 | g.7467408G>C | CA304856530 | ARHGEF18 | c.2163G>C (p.Gln721His) c.2478G>C (p.Gln826His) c.2166G>C (p.Gln722His) c.3204G>C (p.Gln1068His) c.2640G>C (p.Gln880His) c.1555G>C c.2440G>C c.3399G>C (p.Gln1133His) c.3156G>C (p.Gln1052His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7467408G= | CA2320932332 | ARHGEF18 | c.2163G= (p.Gln721=) c.2478G= (p.Gln826=) c.2166G= (p.Gln722=) c.3204G= (p.Gln1068=) c.2640G= (p.Gln880=) c.1555G= c.2440G= c.3399G= (p.Gln1133=) c.3156G= (p.Gln1052=) | |
| 19 | g.7467408G>T | CA403087989 | ARHGEF18 | c.2163G>T (p.Gln721His) c.2478G>T (p.Gln826His) c.2166G>T (p.Gln722His) c.3204G>T (p.Gln1068His) c.2640G>T (p.Gln880His) c.1555G>T c.2440G>T c.3399G>T (p.Gln1133His) c.3156G>T (p.Gln1052His) | gnomAD v4 |
| 19 | g.7467409C>A | CA403087993 | ARHGEF18 | c.2164C>A (p.Arg722Ser) c.2479C>A (p.Arg827Ser) c.2167C>A (p.Arg723Ser) c.3205C>A (p.Arg1069Ser) c.2641C>A (p.Arg881Ser) c.1556C>A c.2441C>A c.3400C>A (p.Arg1134Ser) c.3157C>A (p.Arg1053Ser) | dbSNP gnomAD v4 |
| 19 | g.7467409C= | CA2320932333 | ARHGEF18 | c.2164C= (p.Arg722=) c.2479C= (p.Arg827=) c.2167C= (p.Arg723=) c.3205C= (p.Arg1069=) c.2641C= (p.Arg881=) c.1556C= c.2441C= c.3400C= (p.Arg1134=) c.3157C= (p.Arg1053=) | |
| 19 | g.7467409C>G | CA403087999 | ARHGEF18 | c.2164C>G (p.Arg722Gly) c.2479C>G (p.Arg827Gly) c.2167C>G (p.Arg723Gly) c.3205C>G (p.Arg1069Gly) c.2641C>G (p.Arg881Gly) c.1556C>G c.2441C>G c.3400C>G (p.Arg1134Gly) c.3157C>G (p.Arg1053Gly) | gnomAD v4 |
| 19 | g.7467409C>T | CA403088010 | ARHGEF18 | c.2164C>T (p.Arg722Cys) c.2479C>T (p.Arg827Cys) c.2167C>T (p.Arg723Cys) c.3205C>T (p.Arg1069Cys) c.2641C>T (p.Arg881Cys) c.1556C>T c.2441C>T c.3400C>T (p.Arg1134Cys) c.3157C>T (p.Arg1053Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7467410G>A | CA9137126 | ARHGEF18 | c.2165G>A (p.Arg722His) c.2480G>A (p.Arg827His) c.2168G>A (p.Arg723His) c.3206G>A (p.Arg1069His) c.2642G>A (p.Arg881His) c.1557G>A c.2442G>A c.3401G>A (p.Arg1134His) c.3158G>A (p.Arg1053His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7467410G>C | CA403088016 | ARHGEF18 | c.2165G>C (p.Arg722Pro) c.2480G>C (p.Arg827Pro) c.2168G>C (p.Arg723Pro) c.3206G>C (p.Arg1069Pro) c.2642G>C (p.Arg881Pro) c.1557G>C c.2442G>C c.3401G>C (p.Arg1134Pro) c.3158G>C (p.Arg1053Pro) | |
| 19 | g.7467410G= | CA2320932334 | ARHGEF18 | c.2165G= (p.Arg722=) c.2480G= (p.Arg827=) c.2168G= (p.Arg723=) c.3206G= (p.Arg1069=) c.2642G= (p.Arg881=) c.1557G= c.2442G= c.3401G= (p.Arg1134=) c.3158G= (p.Arg1053=) | |
| 19 | g.7467410G>T | CA403088023 | ARHGEF18 | c.2165G>T (p.Arg722Leu) c.2480G>T (p.Arg827Leu) c.2168G>T (p.Arg723Leu) c.3206G>T (p.Arg1069Leu) c.2642G>T (p.Arg881Leu) c.1557G>T c.2442G>T c.3401G>T (p.Arg1134Leu) c.3158G>T (p.Arg1053Leu) | gnomAD v4 |
| 19 | g.7467411C>A | CA505401012 | ARHGEF18 | c.2166C>A (p.Arg722=) c.2481C>A (p.Arg827=) c.2169C>A (p.Arg723=) c.3207C>A (p.Arg1069=) c.2643C>A (p.Arg881=) c.1558C>A c.2443C>A c.3402C>A (p.Arg1134=) c.3159C>A (p.Arg1053=) | gnomAD v4 |
| 19 | g.7467411C>G | CA505401015 | ARHGEF18 | c.2166C>G (p.Arg722=) c.2481C>G (p.Arg827=) c.2169C>G (p.Arg723=) c.3207C>G (p.Arg1069=) c.2643C>G (p.Arg881=) c.1558C>G c.2443C>G c.3402C>G (p.Arg1134=) c.3159C>G (p.Arg1053=) | |
| 19 | g.7467411C>T | CA505401014 | ARHGEF18 | c.2166C>T (p.Arg722=) c.2481C>T (p.Arg827=) c.2169C>T (p.Arg723=) c.3207C>T (p.Arg1069=) c.2643C>T (p.Arg881=) c.1558C>T c.2443C>T c.3402C>T (p.Arg1134=) c.3159C>T (p.Arg1053=) | gnomAD v4 |
| 19 | g.7467412T>A | CA403088031 | ARHGEF18 | c.2167T>A (p.Trp723Arg) c.2482T>A (p.Trp828Arg) c.2170T>A (p.Trp724Arg) c.3208T>A (p.Trp1070Arg) c.2644T>A (p.Trp882Arg) c.1559T>A c.2444T>A c.3403T>A (p.Trp1135Arg) c.3160T>A (p.Trp1054Arg) | |
| 19 | g.7467412T>C | CA403088033 | ARHGEF18 | c.2167T>C (p.Trp723Arg) c.2482T>C (p.Trp828Arg) c.2170T>C (p.Trp724Arg) c.3208T>C (p.Trp1070Arg) c.2644T>C (p.Trp882Arg) c.1559T>C c.2444T>C c.3403T>C (p.Trp1135Arg) c.3160T>C (p.Trp1054Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7467412T>G | CA403088034 | ARHGEF18 | c.2167T>G (p.Trp723Gly) c.2482T>G (p.Trp828Gly) c.2170T>G (p.Trp724Gly) c.3208T>G (p.Trp1070Gly) c.2644T>G (p.Trp882Gly) c.1559T>G c.2444T>G c.3403T>G (p.Trp1135Gly) c.3160T>G (p.Trp1054Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7467412T= | CA2320932335 | ARHGEF18 | c.2167T= (p.Trp723=) c.2482T= (p.Trp828=) c.2170T= (p.Trp724=) c.3208T= (p.Trp1070=) c.2644T= (p.Trp882=) c.1559T= c.2444T= c.3403T= (p.Trp1135=) c.3160T= (p.Trp1054=) | |
| 19 | g.7467413G>A | CA403088036 | ARHGEF18 | c.2168G>A (p.Trp723Ter) c.2483G>A (p.Trp828Ter) c.2171G>A (p.Trp724Ter) c.3209G>A (p.Trp1070Ter) c.2645G>A (p.Trp882Ter) c.1560G>A c.2445G>A c.3404G>A (p.Trp1135Ter) c.3161G>A (p.Trp1054Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7467413G>C | CA403088043 | ARHGEF18 | c.2168G>C (p.Trp723Ser) c.2483G>C (p.Trp828Ser) c.2171G>C (p.Trp724Ser) c.3209G>C (p.Trp1070Ser) c.2645G>C (p.Trp882Ser) c.1560G>C c.2445G>C c.3404G>C (p.Trp1135Ser) c.3161G>C (p.Trp1054Ser) | |
| 19 | g.7467413G= | CA2320932336 | ARHGEF18 | c.2168G= (p.Trp723=) c.2483G= (p.Trp828=) c.2171G= (p.Trp724=) c.3209G= (p.Trp1070=) c.2645G= (p.Trp882=) c.1560G= c.2445G= c.3404G= (p.Trp1135=) c.3161G= (p.Trp1054=) | |
| 19 | g.7467413G>T | CA403088045 | ARHGEF18 | c.2168G>T (p.Trp723Leu) c.2483G>T (p.Trp828Leu) c.2171G>T (p.Trp724Leu) c.3209G>T (p.Trp1070Leu) c.2645G>T (p.Trp882Leu) c.1560G>T c.2445G>T c.3404G>T (p.Trp1135Leu) c.3161G>T (p.Trp1054Leu) | gnomAD v4 |
| 19 | g.7467414G>A | CA403088067 | ARHGEF18 | c.2169G>A (p.Trp723Ter) c.2484G>A (p.Trp828Ter) c.2172G>A (p.Trp724Ter) c.3210G>A (p.Trp1070Ter) c.2646G>A (p.Trp882Ter) c.1561G>A c.2446G>A c.3405G>A (p.Trp1135Ter) c.3162G>A (p.Trp1054Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7467414G>C | CA403088069 | ARHGEF18 | c.2169G>C (p.Trp723Cys) c.2484G>C (p.Trp828Cys) c.2172G>C (p.Trp724Cys) c.3210G>C (p.Trp1070Cys) c.2646G>C (p.Trp882Cys) c.1561G>C c.2446G>C c.3405G>C (p.Trp1135Cys) c.3162G>C (p.Trp1054Cys) | |
| 19 | g.7467414G= | CA2320932337 | ARHGEF18 | c.2169G= (p.Trp723=) c.2484G= (p.Trp828=) c.2172G= (p.Trp724=) c.3210G= (p.Trp1070=) c.2646G= (p.Trp882=) c.1561G= c.2446G= c.3405G= (p.Trp1135=) c.3162G= (p.Trp1054=) | |
| 19 | g.7467414G>T | CA403088056 | ARHGEF18 | c.2169G>T (p.Trp723Cys) c.2484G>T (p.Trp828Cys) c.2172G>T (p.Trp724Cys) c.3210G>T (p.Trp1070Cys) c.2646G>T (p.Trp882Cys) c.1561G>T c.2446G>T c.3405G>T (p.Trp1135Cys) c.3162G>T (p.Trp1054Cys) | gnomAD v4 |
| 19 | g.7467415G>A | CA403088070 | ARHGEF18 | c.2170G>A (p.Glu724Lys) c.2485G>A (p.Glu829Lys) c.2173G>A (p.Glu725Lys) c.3211G>A (p.Glu1071Lys) c.2647G>A (p.Glu883Lys) c.1562G>A c.2447G>A c.3406G>A (p.Glu1136Lys) c.3163G>A (p.Glu1055Lys) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7467415G>C | CA403088074 | ARHGEF18 | c.2170G>C (p.Glu724Gln) c.2485G>C (p.Glu829Gln) c.2173G>C (p.Glu725Gln) c.3211G>C (p.Glu1071Gln) c.2647G>C (p.Glu883Gln) c.1562G>C c.2447G>C c.3406G>C (p.Glu1136Gln) c.3163G>C (p.Glu1055Gln) | gnomAD v4 |
| 19 | g.7467415G>T | CA403088082 | ARHGEF18 | c.2170G>T (p.Glu724Ter) c.2485G>T (p.Glu829Ter) c.2173G>T (p.Glu725Ter) c.3211G>T (p.Glu1071Ter) c.2647G>T (p.Glu883Ter) c.1562G>T c.2447G>T c.3406G>T (p.Glu1136Ter) c.3163G>T (p.Glu1055Ter) | gnomAD v4 |
| 19 | g.7467416A>C | CA403088098 | ARHGEF18 | c.2171A>C (p.Glu724Ala) c.2486A>C (p.Glu829Ala) c.2174A>C (p.Glu725Ala) c.3212A>C (p.Glu1071Ala) c.2648A>C (p.Glu883Ala) c.1563A>C c.2448A>C c.3407A>C (p.Glu1136Ala) c.3164A>C (p.Glu1055Ala) | |
| 19 | g.7467416A>G | CA403088100 | ARHGEF18 | c.2171A>G (p.Glu724Gly) c.2486A>G (p.Glu829Gly) c.2174A>G (p.Glu725Gly) c.3212A>G (p.Glu1071Gly) c.2648A>G (p.Glu883Gly) c.1563A>G c.2448A>G c.3407A>G (p.Glu1136Gly) c.3164A>G (p.Glu1055Gly) | gnomAD v4 |
| 19 | g.7467416A>T | CA403088101 | ARHGEF18 | c.2171A>T (p.Glu724Val) c.2486A>T (p.Glu829Val) c.2174A>T (p.Glu725Val) c.3212A>T (p.Glu1071Val) c.2648A>T (p.Glu883Val) c.1563A>T c.2448A>T c.3407A>T (p.Glu1136Val) c.3164A>T (p.Glu1055Val) | |
| 19 | g.7467417G>A | CA505401022 | ARHGEF18 | c.2172G>A (p.Glu724=) c.2487G>A (p.Glu829=) c.2175G>A (p.Glu725=) c.3213G>A (p.Glu1071=) c.2649G>A (p.Glu883=) c.1564G>A c.2449G>A c.3408G>A (p.Glu1136=) c.3165G>A (p.Glu1055=) | gnomAD v4 |
| 19 | g.7467417G>C | CA403088103 | ARHGEF18 | c.2172G>C (p.Glu724Asp) c.2487G>C (p.Glu829Asp) c.2175G>C (p.Glu725Asp) c.3213G>C (p.Glu1071Asp) c.2649G>C (p.Glu883Asp) c.1564G>C c.2449G>C c.3408G>C (p.Glu1136Asp) c.3165G>C (p.Glu1055Asp) | |
| 19 | g.7467417G>T | CA403088107 | ARHGEF18 | c.2172G>T (p.Glu724Asp) c.2487G>T (p.Glu829Asp) c.2175G>T (p.Glu725Asp) c.3213G>T (p.Glu1071Asp) c.2649G>T (p.Glu883Asp) c.1564G>T c.2449G>T c.3408G>T (p.Glu1136Asp) c.3165G>T (p.Glu1055Asp) | gnomAD v4 |
| 19 | g.7467418C>A | CA403088121 | ARHGEF18 | c.2173C>A (p.Arg725Ser) c.2488C>A (p.Arg830Ser) c.2176C>A (p.Arg726Ser) c.3214C>A (p.Arg1072Ser) c.2650C>A (p.Arg884Ser) c.1565C>A c.2450C>A c.3409C>A (p.Arg1137Ser) c.3166C>A (p.Arg1056Ser) | gnomAD v4 |
| 19 | g.7467418C= | CA2320932338 | ARHGEF18 | c.2173C= (p.Arg725=) c.2488C= (p.Arg830=) c.2176C= (p.Arg726=) c.3214C= (p.Arg1072=) c.2650C= (p.Arg884=) c.1565C= c.2450C= c.3409C= (p.Arg1137=) c.3166C= (p.Arg1056=) | |
| 19 | g.7467418C>G | CA304856539 | ARHGEF18 | c.2173C>G (p.Arg725Gly) c.2488C>G (p.Arg830Gly) c.2176C>G (p.Arg726Gly) c.3214C>G (p.Arg1072Gly) c.2650C>G (p.Arg884Gly) c.1565C>G c.2450C>G c.3409C>G (p.Arg1137Gly) c.3166C>G (p.Arg1056Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7467418C>T | CA403088136 | ARHGEF18 | c.2173C>T (p.Arg725Cys) c.2488C>T (p.Arg830Cys) c.2176C>T (p.Arg726Cys) c.3214C>T (p.Arg1072Cys) c.2650C>T (p.Arg884Cys) c.1565C>T c.2450C>T c.3409C>T (p.Arg1137Cys) c.3166C>T (p.Arg1056Cys) | ClinVar gnomAD v4 |
| 19 | g.7467419G>A | CA403088138 | ARHGEF18 | c.2174G>A (p.Arg725His) c.2489G>A (p.Arg830His) c.2177G>A (p.Arg726His) c.3215G>A (p.Arg1072His) c.2651G>A (p.Arg884His) c.1566G>A c.2451G>A c.3410G>A (p.Arg1137His) c.3167G>A (p.Arg1056His) | gnomAD v4 |