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 |
|---|---|---|---|---|---|
| 8 | g.1952703A= | CA1757785046 | ARHGEF10 | c.3398-2A= (n.3398-2A=) c.3926-2A= c.*3352-2A= (n.*3352-2A=) c.3473-2A= (n.3473-2A=) c.3470-2A= (n.3470-2A=) c.3284-2A= (n.3284-2A=) n.235-2A= c.2330-2A= (n.2330-2A=) n.490-2A= c.3401-2A= (n.3401-2A=) c.3314-2A= (n.3314-2A=) c.3281-2A= (n.3281-2A=) c.3401-4046A= (n.3401-4046A=) c.3356-2A= (n.3356-2A=) c.3485-2A= (n.3485-2A=) | |
| 8 | g.1952703A>C | CA369957289 | ARHGEF10 | c.3398-2A>C (n.3398-2A>C) c.3926-2A>C c.*3352-2A>C (n.*3352-2A>C) c.3473-2A>C (n.3473-2A>C) c.3470-2A>C (n.3470-2A>C) c.3284-2A>C (n.3284-2A>C) n.235-2A>C c.2330-2A>C (n.2330-2A>C) n.490-2A>C c.3401-2A>C (n.3401-2A>C) c.3314-2A>C (n.3314-2A>C) c.3281-2A>C (n.3281-2A>C) c.3401-4046A>C (n.3401-4046A>C) c.3356-2A>C (n.3356-2A>C) c.3485-2A>C (n.3485-2A>C) | |
| 8 | g.1952703A>G | CA4601363 | ARHGEF10 | c.3398-2A>G (n.3398-2A>G) c.3926-2A>G c.*3352-2A>G (n.*3352-2A>G) c.3473-2A>G (n.3473-2A>G) c.3470-2A>G (n.3470-2A>G) c.3284-2A>G (n.3284-2A>G) n.235-2A>G c.2330-2A>G (n.2330-2A>G) n.490-2A>G c.3401-2A>G (n.3401-2A>G) c.3314-2A>G (n.3314-2A>G) c.3281-2A>G (n.3281-2A>G) c.3401-4046A>G (n.3401-4046A>G) c.3356-2A>G (n.3356-2A>G) c.3485-2A>G (n.3485-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1952703A>T | CA369957290 | ARHGEF10 | c.3398-2A>T (n.3398-2A>T) c.3926-2A>T c.*3352-2A>T (n.*3352-2A>T) c.3473-2A>T (n.3473-2A>T) c.3470-2A>T (n.3470-2A>T) c.3284-2A>T (n.3284-2A>T) n.235-2A>T c.2330-2A>T (n.2330-2A>T) n.490-2A>T c.3401-2A>T (n.3401-2A>T) c.3314-2A>T (n.3314-2A>T) c.3281-2A>T (n.3281-2A>T) c.3401-4046A>T (n.3401-4046A>T) c.3356-2A>T (n.3356-2A>T) c.3485-2A>T (n.3485-2A>T) | |
| 8 | g.1952704G>A | CA369957291 | ARHGEF10 | c.3398-1G>A (n.3398-1G>A) c.3926-1G>A c.*3352-1G>A (n.*3352-1G>A) c.3473-1G>A (n.3473-1G>A) c.3470-1G>A (n.3470-1G>A) c.3284-1G>A (n.3284-1G>A) n.235-1G>A c.2330-1G>A (n.2330-1G>A) n.490-1G>A c.3401-1G>A (n.3401-1G>A) c.3314-1G>A (n.3314-1G>A) c.3281-1G>A (n.3281-1G>A) c.3401-4045G>A (n.3401-4045G>A) c.3356-1G>A (n.3356-1G>A) c.3485-1G>A (n.3485-1G>A) | |
| 8 | g.1952704G>C | CA369957292 | ARHGEF10 | c.3398-1G>C (n.3398-1G>C) c.3926-1G>C c.*3352-1G>C (n.*3352-1G>C) c.3473-1G>C (n.3473-1G>C) c.3470-1G>C (n.3470-1G>C) c.3284-1G>C (n.3284-1G>C) n.235-1G>C c.2330-1G>C (n.2330-1G>C) n.490-1G>C c.3401-1G>C (n.3401-1G>C) c.3314-1G>C (n.3314-1G>C) c.3281-1G>C (n.3281-1G>C) c.3401-4045G>C (n.3401-4045G>C) c.3356-1G>C (n.3356-1G>C) c.3485-1G>C (n.3485-1G>C) | |
| 8 | g.1952704G>T | CA369957293 | ARHGEF10 | c.3398-1G>T (n.3398-1G>T) c.3926-1G>T c.*3352-1G>T (n.*3352-1G>T) c.3473-1G>T (n.3473-1G>T) c.3470-1G>T (n.3470-1G>T) c.3284-1G>T (n.3284-1G>T) n.235-1G>T c.2330-1G>T (n.2330-1G>T) n.490-1G>T c.3401-1G>T (n.3401-1G>T) c.3314-1G>T (n.3314-1G>T) c.3281-1G>T (n.3281-1G>T) c.3401-4045G>T (n.3401-4045G>T) c.3356-1G>T (n.3356-1G>T) c.3485-1G>T (n.3485-1G>T) | COSMIC COSMIC |
| 8 | g.1952705G>A | CA369957294 | ARHGEF10 | c.3398G>A (p.Gly1133Glu) c.3926G>A c.*3352G>A (n.*3352G>A) c.3473G>A (p.Gly1158Glu) c.3470G>A (p.Gly1157Glu) c.3284G>A (p.Gly1095Glu) n.235G>A c.2330G>A (p.Gly777Glu) n.490G>A c.3401G>A (p.Gly1134Glu) c.3314G>A (p.Gly1105Glu) c.3281G>A (p.Gly1094Glu) c.3401-4044G>A (n.3401-4044G>A) c.3356G>A (p.Gly1119Glu) c.3485G>A (p.Gly1162Glu) | |
| 8 | g.1952705G>C | CA369957295 | ARHGEF10 | c.3398G>C (p.Gly1133Ala) c.3926G>C c.*3352G>C (n.*3352G>C) c.3473G>C (p.Gly1158Ala) c.3470G>C (p.Gly1157Ala) c.3284G>C (p.Gly1095Ala) n.235G>C c.2330G>C (p.Gly777Ala) n.490G>C c.3401G>C (p.Gly1134Ala) c.3314G>C (p.Gly1105Ala) c.3281G>C (p.Gly1094Ala) c.3401-4044G>C (n.3401-4044G>C) c.3356G>C (p.Gly1119Ala) c.3485G>C (p.Gly1162Ala) | |
| 8 | g.1952705G>T | CA369957296 | ARHGEF10 | c.3398G>T (p.Gly1133Val) c.3926G>T c.*3352G>T (n.*3352G>T) c.3473G>T (p.Gly1158Val) c.3470G>T (p.Gly1157Val) c.3284G>T (p.Gly1095Val) n.235G>T c.2330G>T (p.Gly777Val) n.490G>T c.3401G>T (p.Gly1134Val) c.3314G>T (p.Gly1105Val) c.3281G>T (p.Gly1094Val) c.3401-4044G>T (n.3401-4044G>T) c.3356G>T (p.Gly1119Val) c.3485G>T (p.Gly1162Val) | |
| 8 | g.1952706G>A | CA459050200 | ARHGEF10 | c.3399G>A (p.Gly1133=) c.3927G>A c.*3353G>A (n.*3353G>A) c.3474G>A (p.Gly1158=) c.3471G>A (p.Gly1157=) c.3285G>A (p.Gly1095=) n.236G>A c.2331G>A (p.Gly777=) n.491G>A c.3402G>A (p.Gly1134=) c.3315G>A (p.Gly1105=) c.3282G>A (p.Gly1094=) c.3401-4043G>A (n.3401-4043G>A) c.3357G>A (p.Gly1119=) c.3486G>A (p.Gly1162=) | |
| 8 | g.1952706G>C | CA459050201 | ARHGEF10 | c.3399G>C (p.Gly1133=) c.3927G>C c.*3353G>C (n.*3353G>C) c.3474G>C (p.Gly1158=) c.3471G>C (p.Gly1157=) c.3285G>C (p.Gly1095=) n.236G>C c.2331G>C (p.Gly777=) n.491G>C c.3402G>C (p.Gly1134=) c.3315G>C (p.Gly1105=) c.3282G>C (p.Gly1094=) c.3401-4043G>C (n.3401-4043G>C) c.3357G>C (p.Gly1119=) c.3486G>C (p.Gly1162=) | |
| 8 | g.1952706G>T | CA459050202 | ARHGEF10 | c.3399G>T (p.Gly1133=) c.3927G>T c.*3353G>T (n.*3353G>T) c.3474G>T (p.Gly1158=) c.3471G>T (p.Gly1157=) c.3285G>T (p.Gly1095=) n.236G>T c.2331G>T (p.Gly777=) n.491G>T c.3402G>T (p.Gly1134=) c.3315G>T (p.Gly1105=) c.3282G>T (p.Gly1094=) c.3401-4043G>T (n.3401-4043G>T) c.3357G>T (p.Gly1119=) c.3486G>T (p.Gly1162=) | |
| 8 | g.1952707C>A | CA369957298 | ARHGEF10 | c.3400C>A (p.His1134Asn) c.3928C>A c.*3354C>A (n.*3354C>A) c.3475C>A (p.His1159Asn) c.3472C>A (p.His1158Asn) c.3286C>A (p.His1096Asn) n.237C>A c.2332C>A (p.His778Asn) n.492C>A c.3403C>A (p.His1135Asn) c.3316C>A (p.His1106Asn) c.3283C>A (p.His1095Asn) c.3401-4042C>A (n.3401-4042C>A) c.3358C>A (p.His1120Asn) c.3487C>A (p.His1163Asn) | dbSNP |
| 8 | g.1952707C= | CA1757785048 | ARHGEF10 | c.3400C= (p.His1134=) c.3928C= c.*3354C= (n.*3354C=) c.3475C= (p.His1159=) c.3472C= (p.His1158=) c.3286C= (p.His1096=) n.237C= c.2332C= (p.His778=) n.492C= c.3403C= (p.His1135=) c.3316C= (p.His1106=) c.3283C= (p.His1095=) c.3401-4042C= (n.3401-4042C=) c.3358C= (p.His1120=) c.3487C= (p.His1163=) | |
| 8 | g.1952707C>G | CA369957297 | ARHGEF10 | c.3400C>G (p.His1134Asp) c.3928C>G c.*3354C>G (n.*3354C>G) c.3475C>G (p.His1159Asp) c.3472C>G (p.His1158Asp) c.3286C>G (p.His1096Asp) n.237C>G c.2332C>G (p.His778Asp) n.492C>G c.3403C>G (p.His1135Asp) c.3316C>G (p.His1106Asp) c.3283C>G (p.His1095Asp) c.3401-4042C>G (n.3401-4042C>G) c.3358C>G (p.His1120Asp) c.3487C>G (p.His1163Asp) | |
| 8 | g.1952707C>T | CA170596399 | ARHGEF10 | c.3400C>T (p.His1134Tyr) c.3928C>T c.*3354C>T (n.*3354C>T) c.3475C>T (p.His1159Tyr) c.3472C>T (p.His1158Tyr) c.3286C>T (p.His1096Tyr) n.237C>T c.2332C>T (p.His778Tyr) n.492C>T c.3403C>T (p.His1135Tyr) c.3316C>T (p.His1106Tyr) c.3283C>T (p.His1095Tyr) c.3401-4042C>T (n.3401-4042C>T) c.3358C>T (p.His1120Tyr) c.3487C>T (p.His1163Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1952708A>C | CA369957299 | ARHGEF10 | c.3401A>C (p.His1134Pro) c.3929A>C c.*3355A>C (n.*3355A>C) c.3476A>C (p.His1159Pro) c.3473A>C (p.His1158Pro) c.3287A>C (p.His1096Pro) n.238A>C c.2333A>C (p.His778Pro) n.493A>C c.3404A>C (p.His1135Pro) c.3317A>C (p.His1106Pro) c.3284A>C (p.His1095Pro) c.3401-4041A>C (n.3401-4041A>C) c.3359A>C (p.His1120Pro) c.3488A>C (p.His1163Pro) | |
| 8 | g.1952708A>G | CA369957300 | ARHGEF10 | c.3401A>G (p.His1134Arg) c.3929A>G c.*3355A>G (n.*3355A>G) c.3476A>G (p.His1159Arg) c.3473A>G (p.His1158Arg) c.3287A>G (p.His1096Arg) n.238A>G c.2333A>G (p.His778Arg) n.493A>G c.3404A>G (p.His1135Arg) c.3317A>G (p.His1106Arg) c.3284A>G (p.His1095Arg) c.3401-4041A>G (n.3401-4041A>G) c.3359A>G (p.His1120Arg) c.3488A>G (p.His1163Arg) | |
| 8 | g.1952708A>T | CA369957301 | ARHGEF10 | c.3401A>T (p.His1134Leu) c.3929A>T c.*3355A>T (n.*3355A>T) c.3476A>T (p.His1159Leu) c.3473A>T (p.His1158Leu) c.3287A>T (p.His1096Leu) n.238A>T c.2333A>T (p.His778Leu) n.493A>T c.3404A>T (p.His1135Leu) c.3317A>T (p.His1106Leu) c.3284A>T (p.His1095Leu) c.3401-4041A>T (n.3401-4041A>T) c.3359A>T (p.His1120Leu) c.3488A>T (p.His1163Leu) | |
| 8 | g.1952709C>A | CA369957302 | ARHGEF10 | c.3402C>A (p.His1134Gln) c.3930C>A c.*3356C>A (n.*3356C>A) c.3477C>A (p.His1159Gln) c.3474C>A (p.His1158Gln) c.3288C>A (p.His1096Gln) n.239C>A c.2334C>A (p.His778Gln) n.494C>A c.3405C>A (p.His1135Gln) c.3318C>A (p.His1106Gln) c.3285C>A (p.His1095Gln) c.3401-4040C>A (n.3401-4040C>A) c.3360C>A (p.His1120Gln) c.3489C>A (p.His1163Gln) | |
| 8 | g.1952709C>G | CA369957303 | ARHGEF10 | c.3402C>G (p.His1134Gln) c.3930C>G c.*3356C>G (n.*3356C>G) c.3477C>G (p.His1159Gln) c.3474C>G (p.His1158Gln) c.3288C>G (p.His1096Gln) n.239C>G c.2334C>G (p.His778Gln) n.494C>G c.3405C>G (p.His1135Gln) c.3318C>G (p.His1106Gln) c.3285C>G (p.His1095Gln) c.3401-4040C>G (n.3401-4040C>G) c.3360C>G (p.His1120Gln) c.3489C>G (p.His1163Gln) | |
| 8 | g.1952709C>T | CA459050203 | ARHGEF10 | c.3402C>T (p.His1134=) c.3930C>T c.*3356C>T (n.*3356C>T) c.3477C>T (p.His1159=) c.3474C>T (p.His1158=) c.3288C>T (p.His1096=) n.239C>T c.2334C>T (p.His778=) n.494C>T c.3405C>T (p.His1135=) c.3318C>T (p.His1106=) c.3285C>T (p.His1095=) c.3401-4040C>T (n.3401-4040C>T) c.3360C>T (p.His1120=) c.3489C>T (p.His1163=) | |
| 8 | g.1952710C>A | CA369957304 | ARHGEF10 | c.3403C>A (p.Gln1135Lys) c.3931C>A c.*3357C>A (n.*3357C>A) c.3478C>A (p.Gln1160Lys) c.3475C>A (p.Gln1159Lys) c.3289C>A (p.Gln1097Lys) n.240C>A c.2335C>A (p.Gln779Lys) n.495C>A c.3406C>A (p.Gln1136Lys) c.3319C>A (p.Gln1107Lys) c.3286C>A (p.Gln1096Lys) c.3401-4039C>A (n.3401-4039C>A) c.3361C>A (p.Gln1121Lys) c.3490C>A (p.Gln1164Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1952710C= | CA1757785053 | ARHGEF10 | c.3403C= (p.Gln1135=) c.3931C= c.*3357C= (n.*3357C=) c.3478C= (p.Gln1160=) c.3475C= (p.Gln1159=) c.3289C= (p.Gln1097=) n.240C= c.2335C= (p.Gln779=) n.495C= c.3406C= (p.Gln1136=) c.3319C= (p.Gln1107=) c.3286C= (p.Gln1096=) c.3401-4039C= (n.3401-4039C=) c.3361C= (p.Gln1121=) c.3490C= (p.Gln1164=) | |
| 8 | g.1952710C>G | CA369957305 | ARHGEF10 | c.3403C>G (p.Gln1135Glu) c.3931C>G c.*3357C>G (n.*3357C>G) c.3478C>G (p.Gln1160Glu) c.3475C>G (p.Gln1159Glu) c.3289C>G (p.Gln1097Glu) n.240C>G c.2335C>G (p.Gln779Glu) n.495C>G c.3406C>G (p.Gln1136Glu) c.3319C>G (p.Gln1107Glu) c.3286C>G (p.Gln1096Glu) c.3401-4039C>G (n.3401-4039C>G) c.3361C>G (p.Gln1121Glu) c.3490C>G (p.Gln1164Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1952710C>T | CA369957306 | ARHGEF10 | c.3403C>T (p.Gln1135Ter) c.3931C>T c.*3357C>T (n.*3357C>T) c.3478C>T (p.Gln1160Ter) c.3475C>T (p.Gln1159Ter) c.3289C>T (p.Gln1097Ter) n.240C>T c.2335C>T (p.Gln779Ter) n.495C>T c.3406C>T (p.Gln1136Ter) c.3319C>T (p.Gln1107Ter) c.3286C>T (p.Gln1096Ter) c.3401-4039C>T (n.3401-4039C>T) c.3361C>T (p.Gln1121Ter) c.3490C>T (p.Gln1164Ter) | gnomAD v4 |
| 8 | g.1952711A= | CA1757785055 | ARHGEF10 | c.3404A= (p.Gln1135=) c.3932A= c.*3358A= (n.*3358A=) c.3479A= (p.Gln1160=) c.3476A= (p.Gln1159=) c.3290A= (p.Gln1097=) n.241A= c.2336A= (p.Gln779=) n.496A= c.3407A= (p.Gln1136=) c.3320A= (p.Gln1107=) c.3287A= (p.Gln1096=) c.3401-4038A= (n.3401-4038A=) c.3362A= (p.Gln1121=) c.3491A= (p.Gln1164=) | |
| 8 | g.1952711A>C | CA369957307 | ARHGEF10 | c.3404A>C (p.Gln1135Pro) c.3932A>C c.*3358A>C (n.*3358A>C) c.3479A>C (p.Gln1160Pro) c.3476A>C (p.Gln1159Pro) c.3290A>C (p.Gln1097Pro) n.241A>C c.2336A>C (p.Gln779Pro) n.496A>C c.3407A>C (p.Gln1136Pro) c.3320A>C (p.Gln1107Pro) c.3287A>C (p.Gln1096Pro) c.3401-4038A>C (n.3401-4038A>C) c.3362A>C (p.Gln1121Pro) c.3491A>C (p.Gln1164Pro) | |
| 8 | g.1952711A>G | CA369957308 | ARHGEF10 | c.3404A>G (p.Gln1135Arg) c.3932A>G c.*3358A>G (n.*3358A>G) c.3479A>G (p.Gln1160Arg) c.3476A>G (p.Gln1159Arg) c.3290A>G (p.Gln1097Arg) n.241A>G c.2336A>G (p.Gln779Arg) n.496A>G c.3407A>G (p.Gln1136Arg) c.3320A>G (p.Gln1107Arg) c.3287A>G (p.Gln1096Arg) c.3401-4038A>G (n.3401-4038A>G) c.3362A>G (p.Gln1121Arg) c.3491A>G (p.Gln1164Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1952711A>T | CA369957309 | ARHGEF10 | c.3404A>T (p.Gln1135Leu) c.3932A>T c.*3358A>T (n.*3358A>T) c.3479A>T (p.Gln1160Leu) c.3476A>T (p.Gln1159Leu) c.3290A>T (p.Gln1097Leu) n.241A>T c.2336A>T (p.Gln779Leu) n.496A>T c.3407A>T (p.Gln1136Leu) c.3320A>T (p.Gln1107Leu) c.3287A>T (p.Gln1096Leu) c.3401-4038A>T (n.3401-4038A>T) c.3362A>T (p.Gln1121Leu) c.3491A>T (p.Gln1164Leu) | |
| 8 | g.1952712G>A | CA459050204 | ARHGEF10 | c.3405G>A (p.Gln1135=) c.3933G>A c.*3359G>A (n.*3359G>A) c.3480G>A (p.Gln1160=) c.3477G>A (p.Gln1159=) c.3291G>A (p.Gln1097=) n.242G>A c.2337G>A (p.Gln779=) n.497G>A c.3408G>A (p.Gln1136=) c.3321G>A (p.Gln1107=) c.3288G>A (p.Gln1096=) c.3401-4037G>A (n.3401-4037G>A) c.3363G>A (p.Gln1121=) c.3492G>A (p.Gln1164=) | |
| 8 | g.1952712G>C | CA369957310 | ARHGEF10 | c.3405G>C (p.Gln1135His) c.3933G>C c.*3359G>C (n.*3359G>C) c.3480G>C (p.Gln1160His) c.3477G>C (p.Gln1159His) c.3291G>C (p.Gln1097His) n.242G>C c.2337G>C (p.Gln779His) n.497G>C c.3408G>C (p.Gln1136His) c.3321G>C (p.Gln1107His) c.3288G>C (p.Gln1096His) c.3401-4037G>C (n.3401-4037G>C) c.3363G>C (p.Gln1121His) c.3492G>C (p.Gln1164His) | |
| 8 | g.1952712G>T | CA369957311 | ARHGEF10 | c.3405G>T (p.Gln1135His) c.3933G>T c.*3359G>T (n.*3359G>T) c.3480G>T (p.Gln1160His) c.3477G>T (p.Gln1159His) c.3291G>T (p.Gln1097His) n.242G>T c.2337G>T (p.Gln779His) n.497G>T c.3408G>T (p.Gln1136His) c.3321G>T (p.Gln1107His) c.3288G>T (p.Gln1096His) c.3401-4037G>T (n.3401-4037G>T) c.3363G>T (p.Gln1121His) c.3492G>T (p.Gln1164His) | |
| 8 | g.1952713C>A | CA4601364 | ARHGEF10 | c.3406C>A (p.Arg1136=) c.3934C>A c.*3360C>A (n.*3360C>A) c.3481C>A (p.Arg1161=) c.3478C>A (p.Arg1160=) c.3292C>A (p.Arg1098=) n.243C>A c.2338C>A (p.Arg780=) n.498C>A c.3409C>A (p.Arg1137=) c.3322C>A (p.Arg1108=) c.3289C>A (p.Arg1097=) c.3401-4036C>A (n.3401-4036C>A) c.3364C>A (p.Arg1122=) c.3493C>A (p.Arg1165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1952713C= | CA1757785057 | ARHGEF10 | c.3406C= (p.Arg1136=) c.3934C= c.*3360C= (n.*3360C=) c.3481C= (p.Arg1161=) c.3478C= (p.Arg1160=) c.3292C= (p.Arg1098=) n.243C= c.2338C= (p.Arg780=) n.498C= c.3409C= (p.Arg1137=) c.3322C= (p.Arg1108=) c.3289C= (p.Arg1097=) c.3401-4036C= (n.3401-4036C=) c.3364C= (p.Arg1122=) c.3493C= (p.Arg1165=) | |
| 8 | g.1952713C>G | CA369957312 | ARHGEF10 | c.3406C>G (p.Arg1136Gly) c.3934C>G c.*3360C>G (n.*3360C>G) c.3481C>G (p.Arg1161Gly) c.3478C>G (p.Arg1160Gly) c.3292C>G (p.Arg1098Gly) n.243C>G c.2338C>G (p.Arg780Gly) n.498C>G c.3409C>G (p.Arg1137Gly) c.3322C>G (p.Arg1108Gly) c.3289C>G (p.Arg1097Gly) c.3401-4036C>G (n.3401-4036C>G) c.3364C>G (p.Arg1122Gly) c.3493C>G (p.Arg1165Gly) | |
| 8 | g.1952713C>T | CA4601365 | ARHGEF10 | c.3406C>T (p.Arg1136Trp) c.3934C>T c.*3360C>T (n.*3360C>T) c.3481C>T (p.Arg1161Trp) c.3478C>T (p.Arg1160Trp) c.3292C>T (p.Arg1098Trp) n.243C>T c.2338C>T (p.Arg780Trp) n.498C>T c.3409C>T (p.Arg1137Trp) c.3322C>T (p.Arg1108Trp) c.3289C>T (p.Arg1097Trp) c.3401-4036C>T (n.3401-4036C>T) c.3364C>T (p.Arg1122Trp) c.3493C>T (p.Arg1165Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1952714G>A | CA170596400 | ARHGEF10 | c.3407G>A (p.Arg1136Gln) c.3935G>A c.*3361G>A (n.*3361G>A) c.3482G>A (p.Arg1161Gln) c.3479G>A (p.Arg1160Gln) c.3293G>A (p.Arg1098Gln) n.244G>A c.2339G>A (p.Arg780Gln) n.499G>A c.3410G>A (p.Arg1137Gln) c.3323G>A (p.Arg1108Gln) c.3290G>A (p.Arg1097Gln) c.3401-4035G>A (n.3401-4035G>A) c.3365G>A (p.Arg1122Gln) c.3494G>A (p.Arg1165Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1952714G>C | CA369957313 | ARHGEF10 | c.3407G>C (p.Arg1136Pro) c.3935G>C c.*3361G>C (n.*3361G>C) c.3482G>C (p.Arg1161Pro) c.3479G>C (p.Arg1160Pro) c.3293G>C (p.Arg1098Pro) n.244G>C c.2339G>C (p.Arg780Pro) n.499G>C c.3410G>C (p.Arg1137Pro) c.3323G>C (p.Arg1108Pro) c.3290G>C (p.Arg1097Pro) c.3401-4035G>C (n.3401-4035G>C) c.3365G>C (p.Arg1122Pro) c.3494G>C (p.Arg1165Pro) | |
| 8 | g.1952714G= | CA1757785061 | ARHGEF10 | c.3407G= (p.Arg1136=) c.3935G= c.*3361G= (n.*3361G=) c.3482G= (p.Arg1161=) c.3479G= (p.Arg1160=) c.3293G= (p.Arg1098=) n.244G= c.2339G= (p.Arg780=) n.499G= c.3410G= (p.Arg1137=) c.3323G= (p.Arg1108=) c.3290G= (p.Arg1097=) c.3401-4035G= (n.3401-4035G=) c.3365G= (p.Arg1122=) c.3494G= (p.Arg1165=) | |
| 8 | g.1952714G>T | CA369957314 | ARHGEF10 | c.3407G>T (p.Arg1136Leu) c.3935G>T c.*3361G>T (n.*3361G>T) c.3482G>T (p.Arg1161Leu) c.3479G>T (p.Arg1160Leu) c.3293G>T (p.Arg1098Leu) n.244G>T c.2339G>T (p.Arg780Leu) n.499G>T c.3410G>T (p.Arg1137Leu) c.3323G>T (p.Arg1108Leu) c.3290G>T (p.Arg1097Leu) c.3401-4035G>T (n.3401-4035G>T) c.3365G>T (p.Arg1122Leu) c.3494G>T (p.Arg1165Leu) | |
| 8 | g.1952715G>A | CA459050206 | ARHGEF10 | c.3408G>A (p.Arg1136=) c.3936G>A c.*3362G>A (n.*3362G>A) c.3483G>A (p.Arg1161=) c.3480G>A (p.Arg1160=) c.3294G>A (p.Arg1098=) n.245G>A c.2340G>A (p.Arg780=) n.500G>A c.3411G>A (p.Arg1137=) c.3324G>A (p.Arg1108=) c.3291G>A (p.Arg1097=) c.3401-4034G>A (n.3401-4034G>A) c.3366G>A (p.Arg1122=) c.3495G>A (p.Arg1165=) | |
| 8 | g.1952715G>C | CA4601366 | ARHGEF10 | c.3408G>C (p.Arg1136=) c.3936G>C c.*3362G>C (n.*3362G>C) c.3483G>C (p.Arg1161=) c.3480G>C (p.Arg1160=) c.3294G>C (p.Arg1098=) n.245G>C c.2340G>C (p.Arg780=) n.500G>C c.3411G>C (p.Arg1137=) c.3324G>C (p.Arg1108=) c.3291G>C (p.Arg1097=) c.3401-4034G>C (n.3401-4034G>C) c.3366G>C (p.Arg1122=) c.3495G>C (p.Arg1165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1952715G= | CA1757785064 | ARHGEF10 | c.3408G= (p.Arg1136=) c.3936G= c.*3362G= (n.*3362G=) c.3483G= (p.Arg1161=) c.3480G= (p.Arg1160=) c.3294G= (p.Arg1098=) n.245G= c.2340G= (p.Arg780=) n.500G= c.3411G= (p.Arg1137=) c.3324G= (p.Arg1108=) c.3291G= (p.Arg1097=) c.3401-4034G= (n.3401-4034G=) c.3366G= (p.Arg1122=) c.3495G= (p.Arg1165=) | |
| 8 | g.1952715G>T | CA459050207 | ARHGEF10 | c.3408G>T (p.Arg1136=) c.3936G>T c.*3362G>T (n.*3362G>T) c.3483G>T (p.Arg1161=) c.3480G>T (p.Arg1160=) c.3294G>T (p.Arg1098=) n.245G>T c.2340G>T (p.Arg780=) n.500G>T c.3411G>T (p.Arg1137=) c.3324G>T (p.Arg1108=) c.3291G>T (p.Arg1097=) c.3401-4034G>T (n.3401-4034G>T) c.3366G>T (p.Arg1122=) c.3495G>T (p.Arg1165=) | |
| 8 | g.1952716C>A | CA369957315 | ARHGEF10 | c.3409C>A (p.Leu1137Met) c.3937C>A c.*3363C>A (n.*3363C>A) c.3484C>A (p.Leu1162Met) c.3481C>A (p.Leu1161Met) c.3295C>A (p.Leu1099Met) n.246C>A c.2341C>A (p.Leu781Met) n.501C>A c.3412C>A (p.Leu1138Met) c.3325C>A (p.Leu1109Met) c.3292C>A (p.Leu1098Met) c.3401-4033C>A (n.3401-4033C>A) c.3367C>A (p.Leu1123Met) c.3496C>A (p.Leu1166Met) | |
| 8 | g.1952716C= | CA1757785065 | ARHGEF10 | c.3409C= (p.Leu1137=) c.3937C= c.*3363C= (n.*3363C=) c.3484C= (p.Leu1162=) c.3481C= (p.Leu1161=) c.3295C= (p.Leu1099=) n.246C= c.2341C= (p.Leu781=) n.501C= c.3412C= (p.Leu1138=) c.3325C= (p.Leu1109=) c.3292C= (p.Leu1098=) c.3401-4033C= (n.3401-4033C=) c.3367C= (p.Leu1123=) c.3496C= (p.Leu1166=) | |
| 8 | g.1952716C>G | CA369957316 | ARHGEF10 | c.3409C>G (p.Leu1137Val) c.3937C>G c.*3363C>G (n.*3363C>G) c.3484C>G (p.Leu1162Val) c.3481C>G (p.Leu1161Val) c.3295C>G (p.Leu1099Val) n.246C>G c.2341C>G (p.Leu781Val) n.501C>G c.3412C>G (p.Leu1138Val) c.3325C>G (p.Leu1109Val) c.3292C>G (p.Leu1098Val) c.3401-4033C>G (n.3401-4033C>G) c.3367C>G (p.Leu1123Val) c.3496C>G (p.Leu1166Val) | |
| 8 | g.1952716C>T | CA459050208 | ARHGEF10 | c.3409C>T (p.Leu1137=) c.3937C>T c.*3363C>T (n.*3363C>T) c.3484C>T (p.Leu1162=) c.3481C>T (p.Leu1161=) c.3295C>T (p.Leu1099=) n.246C>T c.2341C>T (p.Leu781=) n.501C>T c.3412C>T (p.Leu1138=) c.3325C>T (p.Leu1109=) c.3292C>T (p.Leu1098=) c.3401-4033C>T (n.3401-4033C>T) c.3367C>T (p.Leu1123=) c.3496C>T (p.Leu1166=) | dbSNP gnomAD v4 |