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 |
|---|---|---|---|---|---|
| 11 | g.77189385A= | CA1984122430 | MYO7A | c.3545A= (p.Asn1182=) c.1386A= c.3512A= (p.Asn1171=) c.1088A= (p.Asn363=) n.72A= n.1088A= c.3455A= (p.Asn1152=) c.3326A= (p.Asn1109=) c.3314A= (p.Asn1105=) c.3287A= (p.Asn1096=) n.3865A= n.3867A= c.3635A= (p.Asn1212=) c.3404A= (p.Asn1135=) n.3650A= | |
| 11 | g.77189385A>C | CA381946912 | MYO7A | c.3545A>C (p.Asn1182Thr) c.1386A>C c.3512A>C (p.Asn1171Thr) c.1088A>C (p.Asn363Thr) n.72A>C n.1088A>C c.3455A>C (p.Asn1152Thr) c.3326A>C (p.Asn1109Thr) c.3314A>C (p.Asn1105Thr) c.3287A>C (p.Asn1096Thr) n.3865A>C n.3867A>C c.3635A>C (p.Asn1212Thr) c.3404A>C (p.Asn1135Thr) n.3650A>C | |
| 11 | g.77189385A>G | CA6198110 | MYO7A | c.3545A>G (p.Asn1182Ser) c.1386A>G c.3512A>G (p.Asn1171Ser) c.1088A>G (p.Asn363Ser) n.72A>G n.1088A>G c.3455A>G (p.Asn1152Ser) c.3326A>G (p.Asn1109Ser) c.3314A>G (p.Asn1105Ser) c.3287A>G (p.Asn1096Ser) n.3865A>G n.3867A>G c.3635A>G (p.Asn1212Ser) c.3404A>G (p.Asn1135Ser) n.3650A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77189385A>T | CA381946911 | MYO7A | c.3545A>T (p.Asn1182Ile) c.1386A>T c.3512A>T (p.Asn1171Ile) c.1088A>T (p.Asn363Ile) n.72A>T n.1088A>T c.3455A>T (p.Asn1152Ile) c.3326A>T (p.Asn1109Ile) c.3314A>T (p.Asn1105Ile) c.3287A>T (p.Asn1096Ile) n.3865A>T n.3867A>T c.3635A>T (p.Asn1212Ile) c.3404A>T (p.Asn1135Ile) n.3650A>T | |
| 11 | g.77189386C>A | CA381946913 | MYO7A | c.3546C>A (p.Asn1182Lys) c.1387C>A c.3513C>A (p.Asn1171Lys) c.1089C>A (p.Asn363Lys) n.73C>A n.1089C>A c.3456C>A (p.Asn1152Lys) c.3327C>A (p.Asn1109Lys) c.3315C>A (p.Asn1105Lys) c.3288C>A (p.Asn1096Lys) n.3866C>A n.3868C>A c.3636C>A (p.Asn1212Lys) c.3405C>A (p.Asn1135Lys) n.3651C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77189386C= | CA1984122439 | MYO7A | c.3546C= (p.Asn1182=) c.1387C= c.3513C= (p.Asn1171=) c.1089C= (p.Asn363=) n.73C= n.1089C= c.3456C= (p.Asn1152=) c.3327C= (p.Asn1109=) c.3315C= (p.Asn1105=) c.3288C= (p.Asn1096=) n.3866C= n.3868C= c.3636C= (p.Asn1212=) c.3405C= (p.Asn1135=) n.3651C= | |
| 11 | g.77189386C>G | CA381946914 | MYO7A | c.3546C>G (p.Asn1182Lys) c.1387C>G c.3513C>G (p.Asn1171Lys) c.1089C>G (p.Asn363Lys) n.73C>G n.1089C>G c.3456C>G (p.Asn1152Lys) c.3327C>G (p.Asn1109Lys) c.3315C>G (p.Asn1105Lys) c.3288C>G (p.Asn1096Lys) n.3866C>G n.3868C>G c.3636C>G (p.Asn1212Lys) c.3405C>G (p.Asn1135Lys) n.3651C>G | |
| 11 | g.77189386C>T | CA475795933 | MYO7A | c.3546C>T (p.Asn1182=) c.1387C>T c.3513C>T (p.Asn1171=) c.1089C>T (p.Asn363=) n.73C>T n.1089C>T c.3456C>T (p.Asn1152=) c.3327C>T (p.Asn1109=) c.3315C>T (p.Asn1105=) c.3288C>T (p.Asn1096=) n.3866C>T n.3868C>T c.3636C>T (p.Asn1212=) c.3405C>T (p.Asn1135=) n.3651C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77189389del | CA2695214997 | MYO7A | c.3549del (p.Ser1184ProfsTer?) c.1390del c.3516del (p.Ser1173ProfsTer?) c.1092del (p.Ser365ProfsTer?) n.76del n.1092del c.3459del (p.Ser1154ProfsTer?) c.3330del (p.Ser1111ProfsTer?) c.3318del (p.Ser1107ProfsTer?) c.3291del (p.Ser1098ProfsTer?) n.3869del n.3871del c.3639del (p.Ser1214ProfsTer?) c.3408del (p.Ser1137ProfsTer?) n.3654del | |
| 11 | g.77189387C>A | CA381946915 | MYO7A | c.3547C>A (p.Pro1183Thr) c.1388C>A c.3514C>A (p.Pro1172Thr) c.1090C>A (p.Pro364Thr) n.74C>A n.1090C>A c.3457C>A (p.Pro1153Thr) c.3328C>A (p.Pro1110Thr) c.3316C>A (p.Pro1106Thr) c.3289C>A (p.Pro1097Thr) n.3867C>A n.3869C>A c.3637C>A (p.Pro1213Thr) c.3406C>A (p.Pro1136Thr) n.3652C>A | |
| 11 | g.77189387C>G | CA381946916 | MYO7A | c.3547C>G (p.Pro1183Ala) c.1388C>G c.3514C>G (p.Pro1172Ala) c.1090C>G (p.Pro364Ala) n.74C>G n.1090C>G c.3457C>G (p.Pro1153Ala) c.3328C>G (p.Pro1110Ala) c.3316C>G (p.Pro1106Ala) c.3289C>G (p.Pro1097Ala) n.3867C>G n.3869C>G c.3637C>G (p.Pro1213Ala) c.3406C>G (p.Pro1136Ala) n.3652C>G | gnomAD v4 |
| 11 | g.77189387C>T | CA381946917 | MYO7A | c.3547C>T (p.Pro1183Ser) c.1388C>T c.3514C>T (p.Pro1172Ser) c.1090C>T (p.Pro364Ser) n.74C>T n.1090C>T c.3457C>T (p.Pro1153Ser) c.3328C>T (p.Pro1110Ser) c.3316C>T (p.Pro1106Ser) c.3289C>T (p.Pro1097Ser) n.3867C>T n.3869C>T c.3637C>T (p.Pro1213Ser) c.3406C>T (p.Pro1136Ser) n.3652C>T | gnomAD v4 |
| 11 | g.77189388C>A | CA381946918 | MYO7A | c.3548C>A (p.Pro1183His) c.1389C>A c.3515C>A (p.Pro1172His) c.1091C>A (p.Pro364His) n.75C>A n.1091C>A c.3458C>A (p.Pro1153His) c.3329C>A (p.Pro1110His) c.3317C>A (p.Pro1106His) c.3290C>A (p.Pro1097His) n.3868C>A n.3870C>A c.3638C>A (p.Pro1213His) c.3407C>A (p.Pro1136His) n.3653C>A | |
| 11 | g.77189388C= | CA1984122442 | MYO7A | c.3548C= (p.Pro1183=) c.1389C= c.3515C= (p.Pro1172=) c.1091C= (p.Pro364=) n.75C= n.1091C= c.3458C= (p.Pro1153=) c.3329C= (p.Pro1110=) c.3317C= (p.Pro1106=) c.3290C= (p.Pro1097=) n.3868C= n.3870C= c.3638C= (p.Pro1213=) c.3407C= (p.Pro1136=) n.3653C= | |
| 11 | g.77189388C>G | CA381946919 | MYO7A | c.3548C>G (p.Pro1183Arg) c.1389C>G c.3515C>G (p.Pro1172Arg) c.1091C>G (p.Pro364Arg) n.75C>G n.1091C>G c.3458C>G (p.Pro1153Arg) c.3329C>G (p.Pro1110Arg) c.3317C>G (p.Pro1106Arg) c.3290C>G (p.Pro1097Arg) n.3868C>G n.3870C>G c.3638C>G (p.Pro1213Arg) c.3407C>G (p.Pro1136Arg) n.3653C>G | |
| 11 | g.77189388C>T | CA381946920 | MYO7A | c.3548C>T (p.Pro1183Leu) c.1389C>T c.3515C>T (p.Pro1172Leu) c.1091C>T (p.Pro364Leu) n.75C>T n.1091C>T c.3458C>T (p.Pro1153Leu) c.3329C>T (p.Pro1110Leu) c.3317C>T (p.Pro1106Leu) c.3290C>T (p.Pro1097Leu) n.3868C>T n.3870C>T c.3638C>T (p.Pro1213Leu) c.3407C>T (p.Pro1136Leu) n.3653C>T | dbSNP |
| 11 | g.77189389C>A | CA475795934 | MYO7A | c.3549C>A (p.Pro1183=) c.1390C>A c.3516C>A (p.Pro1172=) c.1092C>A (p.Pro364=) n.76C>A n.1092C>A c.3459C>A (p.Pro1153=) c.3330C>A (p.Pro1110=) c.3318C>A (p.Pro1106=) c.3291C>A (p.Pro1097=) n.3869C>A n.3871C>A c.3639C>A (p.Pro1213=) c.3408C>A (p.Pro1136=) n.3654C>A | |
| 11 | g.77189389C>G | CA475795935 | MYO7A | c.3549C>G (p.Pro1183=) c.1390C>G c.3516C>G (p.Pro1172=) c.1092C>G (p.Pro364=) n.76C>G n.1092C>G c.3459C>G (p.Pro1153=) c.3330C>G (p.Pro1110=) c.3318C>G (p.Pro1106=) c.3291C>G (p.Pro1097=) n.3869C>G n.3871C>G c.3639C>G (p.Pro1213=) c.3408C>G (p.Pro1136=) n.3654C>G | |
| 11 | g.77189389C>T | CA475795936 | MYO7A | c.3549C>T (p.Pro1183=) c.1390C>T c.3516C>T (p.Pro1172=) c.1092C>T (p.Pro364=) n.76C>T n.1092C>T c.3459C>T (p.Pro1153=) c.3330C>T (p.Pro1110=) c.3318C>T (p.Pro1106=) c.3291C>T (p.Pro1097=) n.3869C>T n.3871C>T c.3639C>T (p.Pro1213=) c.3408C>T (p.Pro1136=) n.3654C>T | |
| 11 | g.77189390T>A | CA381946921 | MYO7A | c.3550T>A (p.Ser1184Thr) c.1391T>A c.3517T>A (p.Ser1173Thr) c.1093T>A (p.Ser365Thr) n.77T>A n.1093T>A c.3460T>A (p.Ser1154Thr) c.3331T>A (p.Ser1111Thr) c.3319T>A (p.Ser1107Thr) c.3292T>A (p.Ser1098Thr) n.3870T>A n.3872T>A c.3640T>A (p.Ser1214Thr) c.3409T>A (p.Ser1137Thr) n.3655T>A | |
| 11 | g.77189390T>C | CA381946922 | MYO7A | c.3550T>C (p.Ser1184Pro) c.1391T>C c.3517T>C (p.Ser1173Pro) c.1093T>C (p.Ser365Pro) n.77T>C n.1093T>C c.3460T>C (p.Ser1154Pro) c.3331T>C (p.Ser1111Pro) c.3319T>C (p.Ser1107Pro) c.3292T>C (p.Ser1098Pro) n.3870T>C n.3872T>C c.3640T>C (p.Ser1214Pro) c.3409T>C (p.Ser1137Pro) n.3655T>C | |
| 11 | g.77189390T>G | CA381946923 | MYO7A | c.3550T>G (p.Ser1184Ala) c.1391T>G c.3517T>G (p.Ser1173Ala) c.1093T>G (p.Ser365Ala) n.77T>G n.1093T>G c.3460T>G (p.Ser1154Ala) c.3331T>G (p.Ser1111Ala) c.3319T>G (p.Ser1107Ala) c.3292T>G (p.Ser1098Ala) n.3870T>G n.3872T>G c.3640T>G (p.Ser1214Ala) c.3409T>G (p.Ser1137Ala) n.3655T>G | |
| 11 | g.77189391C>A | CA381946924 | MYO7A | c.3551C>A (p.Ser1184Tyr) c.1392C>A c.3518C>A (p.Ser1173Tyr) c.1094C>A (p.Ser365Tyr) n.78C>A n.1094C>A c.3461C>A (p.Ser1154Tyr) c.3332C>A (p.Ser1111Tyr) c.3320C>A (p.Ser1107Tyr) c.3293C>A (p.Ser1098Tyr) n.3871C>A n.3873C>A c.3641C>A (p.Ser1214Tyr) c.3410C>A (p.Ser1137Tyr) n.3656C>A | |
| 11 | g.77189391C= | CA1984122444 | MYO7A | c.3551C= (p.Ser1184=) c.1392C= c.3518C= (p.Ser1173=) c.1094C= (p.Ser365=) n.78C= n.1094C= c.3461C= (p.Ser1154=) c.3332C= (p.Ser1111=) c.3320C= (p.Ser1107=) c.3293C= (p.Ser1098=) n.3871C= n.3873C= c.3641C= (p.Ser1214=) c.3410C= (p.Ser1137=) n.3656C= | |
| 11 | g.77189391C>G | CA381946925 | MYO7A | c.3551C>G (p.Ser1184Cys) c.1392C>G c.3518C>G (p.Ser1173Cys) c.1094C>G (p.Ser365Cys) n.78C>G n.1094C>G c.3461C>G (p.Ser1154Cys) c.3332C>G (p.Ser1111Cys) c.3320C>G (p.Ser1107Cys) c.3293C>G (p.Ser1098Cys) n.3871C>G n.3873C>G c.3641C>G (p.Ser1214Cys) c.3410C>G (p.Ser1137Cys) n.3656C>G | gnomAD v4 |
| 11 | g.77189391C>T | CA381946926 | MYO7A | c.3551C>T (p.Ser1184Phe) c.1392C>T c.3518C>T (p.Ser1173Phe) c.1094C>T (p.Ser365Phe) n.78C>T n.1094C>T c.3461C>T (p.Ser1154Phe) c.3332C>T (p.Ser1111Phe) c.3320C>T (p.Ser1107Phe) c.3293C>T (p.Ser1098Phe) n.3871C>T n.3873C>T c.3641C>T (p.Ser1214Phe) c.3410C>T (p.Ser1137Phe) n.3656C>T | dbSNP gnomAD v4 |
| 11 | g.77189392C>A | CA475795937 | MYO7A | c.3552C>A (p.Ser1184=) c.1393C>A c.3519C>A (p.Ser1173=) c.1095C>A (p.Ser365=) n.79C>A n.1095C>A c.3462C>A (p.Ser1154=) c.3333C>A (p.Ser1111=) c.3321C>A (p.Ser1107=) c.3294C>A (p.Ser1098=) n.3872C>A n.3874C>A c.3642C>A (p.Ser1214=) c.3411C>A (p.Ser1137=) n.3657C>A | |
| 11 | g.77189392C>G | CA475795938 | MYO7A | c.3552C>G (p.Ser1184=) c.1393C>G c.3519C>G (p.Ser1173=) c.1095C>G (p.Ser365=) n.79C>G n.1095C>G c.3462C>G (p.Ser1154=) c.3333C>G (p.Ser1111=) c.3321C>G (p.Ser1107=) c.3294C>G (p.Ser1098=) n.3872C>G n.3874C>G c.3642C>G (p.Ser1214=) c.3411C>G (p.Ser1137=) n.3657C>G | COSMIC |
| 11 | g.77189392C>T | CA475795939 | MYO7A | c.3552C>T (p.Ser1184=) c.1393C>T c.3519C>T (p.Ser1173=) c.1095C>T (p.Ser365=) n.79C>T n.1095C>T c.3462C>T (p.Ser1154=) c.3333C>T (p.Ser1111=) c.3321C>T (p.Ser1107=) c.3294C>T (p.Ser1098=) n.3872C>T n.3874C>T c.3642C>T (p.Ser1214=) c.3411C>T (p.Ser1137=) n.3657C>T | |
| 11 | g.77189393A>C | CA381946928 | MYO7A | c.3553A>C (p.Lys1185Gln) c.1394A>C c.3520A>C (p.Lys1174Gln) c.1096A>C (p.Lys366Gln) n.80A>C n.1096A>C c.3463A>C (p.Lys1155Gln) c.3334A>C (p.Lys1112Gln) c.3322A>C (p.Lys1108Gln) c.3295A>C (p.Lys1099Gln) n.3873A>C n.3875A>C c.3643A>C (p.Lys1215Gln) c.3412A>C (p.Lys1138Gln) n.3658A>C | |
| 11 | g.77189393A>G | CA381946929 | MYO7A | c.3553A>G (p.Lys1185Glu) c.1394A>G c.3520A>G (p.Lys1174Glu) c.1096A>G (p.Lys366Glu) n.80A>G n.1096A>G c.3463A>G (p.Lys1155Glu) c.3334A>G (p.Lys1112Glu) c.3322A>G (p.Lys1108Glu) c.3295A>G (p.Lys1099Glu) n.3873A>G n.3875A>G c.3643A>G (p.Lys1215Glu) c.3412A>G (p.Lys1138Glu) n.3658A>G | gnomAD v4 |
| 11 | g.77189393A>T | CA381946927 | MYO7A | c.3553A>T (p.Lys1185Ter) c.1394A>T c.3520A>T (p.Lys1174Ter) c.1096A>T (p.Lys366Ter) n.80A>T n.1096A>T c.3463A>T (p.Lys1155Ter) c.3334A>T (p.Lys1112Ter) c.3322A>T (p.Lys1108Ter) c.3295A>T (p.Lys1099Ter) n.3873A>T n.3875A>T c.3643A>T (p.Lys1215Ter) c.3412A>T (p.Lys1138Ter) n.3658A>T | |
| 11 | g.77189394A>C | CA381946930 | MYO7A | c.3554A>C (p.Lys1185Thr) c.1395A>C c.3521A>C (p.Lys1174Thr) c.1097A>C (p.Lys366Thr) n.81A>C n.1097A>C c.3464A>C (p.Lys1155Thr) c.3335A>C (p.Lys1112Thr) c.3323A>C (p.Lys1108Thr) c.3296A>C (p.Lys1099Thr) n.3874A>C n.3876A>C c.3644A>C (p.Lys1215Thr) c.3413A>C (p.Lys1138Thr) n.3659A>C | |
| 11 | g.77189394A>G | CA381946931 | MYO7A | c.3554A>G (p.Lys1185Arg) c.1395A>G c.3521A>G (p.Lys1174Arg) c.1097A>G (p.Lys366Arg) n.81A>G n.1097A>G c.3464A>G (p.Lys1155Arg) c.3335A>G (p.Lys1112Arg) c.3323A>G (p.Lys1108Arg) c.3296A>G (p.Lys1099Arg) n.3874A>G n.3876A>G c.3644A>G (p.Lys1215Arg) c.3413A>G (p.Lys1138Arg) n.3659A>G | gnomAD v4 |
| 11 | g.77189394A>T | CA381946932 | MYO7A | c.3554A>T (p.Lys1185Met) c.1395A>T c.3521A>T (p.Lys1174Met) c.1097A>T (p.Lys366Met) n.81A>T n.1097A>T c.3464A>T (p.Lys1155Met) c.3335A>T (p.Lys1112Met) c.3323A>T (p.Lys1108Met) c.3296A>T (p.Lys1099Met) n.3874A>T n.3876A>T c.3644A>T (p.Lys1215Met) c.3413A>T (p.Lys1138Met) n.3659A>T | |
| 11 | g.77189395G>A | CA6198111 | MYO7A | c.3555G>A (p.Lys1185=) c.1396G>A c.3522G>A (p.Lys1174=) c.1098G>A (p.Lys366=) n.82G>A n.1098G>A c.3465G>A (p.Lys1155=) c.3336G>A (p.Lys1112=) c.3324G>A (p.Lys1108=) c.3297G>A (p.Lys1099=) n.3875G>A n.3877G>A c.3645G>A (p.Lys1215=) c.3414G>A (p.Lys1138=) n.3660G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77189395G>C | CA381946933 | MYO7A | c.3555G>C (p.Lys1185Asn) c.1396G>C c.3522G>C (p.Lys1174Asn) c.1098G>C (p.Lys366Asn) n.82G>C n.1098G>C c.3465G>C (p.Lys1155Asn) c.3336G>C (p.Lys1112Asn) c.3324G>C (p.Lys1108Asn) c.3297G>C (p.Lys1099Asn) n.3875G>C n.3877G>C c.3645G>C (p.Lys1215Asn) c.3414G>C (p.Lys1138Asn) n.3660G>C | |
| 11 | g.77189395G= | CA1984122446 | MYO7A | c.3555G= (p.Lys1185=) c.1396G= c.3522G= (p.Lys1174=) c.1098G= (p.Lys366=) n.82G= n.1098G= c.3465G= (p.Lys1155=) c.3336G= (p.Lys1112=) c.3324G= (p.Lys1108=) c.3297G= (p.Lys1099=) n.3875G= n.3877G= c.3645G= (p.Lys1215=) c.3414G= (p.Lys1138=) n.3660G= | |
| 11 | g.77189395G>T | CA381946934 | MYO7A | c.3555G>T (p.Lys1185Asn) c.1396G>T c.3522G>T (p.Lys1174Asn) c.1098G>T (p.Lys366Asn) n.82G>T n.1098G>T c.3465G>T (p.Lys1155Asn) c.3336G>T (p.Lys1112Asn) c.3324G>T (p.Lys1108Asn) c.3297G>T (p.Lys1099Asn) n.3875G>T n.3877G>T c.3645G>T (p.Lys1215Asn) c.3414G>T (p.Lys1138Asn) n.3660G>T | |
| 11 | g.77189396A>C | CA381946937 | MYO7A | c.3556A>C (p.Ser1186Arg) c.1397A>C c.3523A>C (p.Ser1175Arg) c.1099A>C (p.Ser367Arg) n.83A>C n.1099A>C c.3466A>C (p.Ser1156Arg) c.3337A>C (p.Ser1113Arg) c.3325A>C (p.Ser1109Arg) c.3298A>C (p.Ser1100Arg) n.3876A>C n.3878A>C c.3646A>C (p.Ser1216Arg) c.3415A>C (p.Ser1139Arg) n.3661A>C | |
| 11 | g.77189396A>G | CA381946935 | MYO7A | c.3556A>G (p.Ser1186Gly) c.1397A>G c.3523A>G (p.Ser1175Gly) c.1099A>G (p.Ser367Gly) n.83A>G n.1099A>G c.3466A>G (p.Ser1156Gly) c.3337A>G (p.Ser1113Gly) c.3325A>G (p.Ser1109Gly) c.3298A>G (p.Ser1100Gly) n.3876A>G n.3878A>G c.3646A>G (p.Ser1216Gly) c.3415A>G (p.Ser1139Gly) n.3661A>G | |
| 11 | g.77189396A>T | CA381946936 | MYO7A | c.3556A>T (p.Ser1186Cys) c.1397A>T c.3523A>T (p.Ser1175Cys) c.1099A>T (p.Ser367Cys) n.83A>T n.1099A>T c.3466A>T (p.Ser1156Cys) c.3337A>T (p.Ser1113Cys) c.3325A>T (p.Ser1109Cys) c.3298A>T (p.Ser1100Cys) n.3876A>T n.3878A>T c.3646A>T (p.Ser1216Cys) c.3415A>T (p.Ser1139Cys) n.3661A>T | |
| 11 | g.77189397G>A | CA6198112 | MYO7A | c.3557G>A (p.Ser1186Asn) c.1398G>A c.3524G>A (p.Ser1175Asn) c.1100G>A (p.Ser367Asn) n.84G>A n.1100G>A c.3467G>A (p.Ser1156Asn) c.3338G>A (p.Ser1113Asn) c.3326G>A (p.Ser1109Asn) c.3299G>A (p.Ser1100Asn) n.3877G>A n.3879G>A c.3647G>A (p.Ser1216Asn) c.3416G>A (p.Ser1139Asn) n.3662G>A | dbSNP ExAC gnomAD v2 |
| 11 | g.77189397G>C | CA381946938 | MYO7A | c.3557G>C (p.Ser1186Thr) c.1398G>C c.3524G>C (p.Ser1175Thr) c.1100G>C (p.Ser367Thr) n.84G>C n.1100G>C c.3467G>C (p.Ser1156Thr) c.3338G>C (p.Ser1113Thr) c.3326G>C (p.Ser1109Thr) c.3299G>C (p.Ser1100Thr) n.3877G>C n.3879G>C c.3647G>C (p.Ser1216Thr) c.3416G>C (p.Ser1139Thr) n.3662G>C | |
| 11 | g.77189397G= | CA1984122451 | MYO7A | c.3557G= (p.Ser1186=) c.1398G= c.3524G= (p.Ser1175=) c.1100G= (p.Ser367=) n.84G= n.1100G= c.3467G= (p.Ser1156=) c.3338G= (p.Ser1113=) c.3326G= (p.Ser1109=) c.3299G= (p.Ser1100=) n.3877G= n.3879G= c.3647G= (p.Ser1216=) c.3416G= (p.Ser1139=) n.3662G= | |
| 11 | g.77189397G>T | CA381946939 | MYO7A | c.3557G>T (p.Ser1186Ile) c.1398G>T c.3524G>T (p.Ser1175Ile) c.1100G>T (p.Ser367Ile) n.84G>T n.1100G>T c.3467G>T (p.Ser1156Ile) c.3338G>T (p.Ser1113Ile) c.3326G>T (p.Ser1109Ile) c.3299G>T (p.Ser1100Ile) n.3877G>T n.3879G>T c.3647G>T (p.Ser1216Ile) c.3416G>T (p.Ser1139Ile) n.3662G>T | |
| 11 | g.77189398C>A | CA381946940 | MYO7A | c.3558C>A (p.Ser1186Arg) c.1399C>A c.3525C>A (p.Ser1175Arg) c.1101C>A (p.Ser367Arg) n.85C>A n.1101C>A c.3468C>A (p.Ser1156Arg) c.3339C>A (p.Ser1113Arg) c.3327C>A (p.Ser1109Arg) c.3300C>A (p.Ser1100Arg) n.3878C>A n.3880C>A c.3648C>A (p.Ser1216Arg) c.3417C>A (p.Ser1139Arg) n.3663C>A | COSMIC |
| 11 | g.77189398C>G | CA381946941 | MYO7A | c.3558C>G (p.Ser1186Arg) c.1399C>G c.3525C>G (p.Ser1175Arg) c.1101C>G (p.Ser367Arg) n.85C>G n.1101C>G c.3468C>G (p.Ser1156Arg) c.3339C>G (p.Ser1113Arg) c.3327C>G (p.Ser1109Arg) c.3300C>G (p.Ser1100Arg) n.3878C>G n.3880C>G c.3648C>G (p.Ser1216Arg) c.3417C>G (p.Ser1139Arg) n.3663C>G | |
| 11 | g.77189398C>T | CA475795940 | MYO7A | c.3558C>T (p.Ser1186=) c.1399C>T c.3525C>T (p.Ser1175=) c.1101C>T (p.Ser367=) n.85C>T n.1101C>T c.3468C>T (p.Ser1156=) c.3339C>T (p.Ser1113=) c.3327C>T (p.Ser1109=) c.3300C>T (p.Ser1100=) n.3878C>T n.3880C>T c.3648C>T (p.Ser1216=) c.3417C>T (p.Ser1139=) n.3663C>T | |
| 11 | g.77189399A>C | CA381946942 | MYO7A | c.3559A>C (p.Ser1187Arg) c.1400A>C c.3526A>C (p.Ser1176Arg) c.1102A>C (p.Ser368Arg) n.86A>C n.1102A>C c.3469A>C (p.Ser1157Arg) c.3340A>C (p.Ser1114Arg) c.3328A>C (p.Ser1110Arg) c.3301A>C (p.Ser1101Arg) n.3879A>C n.3881A>C c.3649A>C (p.Ser1217Arg) c.3418A>C (p.Ser1140Arg) n.3664A>C |