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 |
|---|---|---|---|---|---|
| 11 | g.77190112A= | CA1984123221 | MYO7A | c.3723A= (p.Thr1241=) c.1564A= c.3690A= (p.Thr1230=) c.1266A= (p.Thr422=) n.250A= n.1266A= c.3633A= (p.Thr1211=) c.3504A= (p.Thr1168=) c.3492A= (p.Thr1164=) c.3465A= (p.Thr1155=) n.4043A= n.4045A= c.3813A= (p.Thr1271=) c.3582A= (p.Thr1194=) n.3828A= | |
| 11 | g.77190112A>C | CA475796048 | MYO7A | c.3723A>C (p.Thr1241=) c.1564A>C c.3690A>C (p.Thr1230=) c.1266A>C (p.Thr422=) n.250A>C n.1266A>C c.3633A>C (p.Thr1211=) c.3504A>C (p.Thr1168=) c.3492A>C (p.Thr1164=) c.3465A>C (p.Thr1155=) n.4043A>C n.4045A>C c.3813A>C (p.Thr1271=) c.3582A>C (p.Thr1194=) n.3828A>C | |
| 11 | g.77190112A>G | CA475796047 | MYO7A | c.3723A>G (p.Thr1241=) c.1564A>G c.3690A>G (p.Thr1230=) c.1266A>G (p.Thr422=) n.250A>G n.1266A>G c.3633A>G (p.Thr1211=) c.3504A>G (p.Thr1168=) c.3492A>G (p.Thr1164=) c.3465A>G (p.Thr1155=) n.4043A>G n.4045A>G c.3813A>G (p.Thr1271=) c.3582A>G (p.Thr1194=) n.3828A>G | gnomAD v4 |
| 11 | g.77190112A>T | CA6198177 | MYO7A | c.3723A>T (p.Thr1241=) c.1564A>T c.3690A>T (p.Thr1230=) c.1266A>T (p.Thr422=) n.250A>T n.1266A>T c.3633A>T (p.Thr1211=) c.3504A>T (p.Thr1168=) c.3492A>T (p.Thr1164=) c.3465A>T (p.Thr1155=) n.4043A>T n.4045A>T c.3813A>T (p.Thr1271=) c.3582A>T (p.Thr1194=) n.3828A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77190113C>A | CA381947289 | MYO7A | c.3724C>A (p.Gln1242Lys) c.1565C>A c.3691C>A (p.Gln1231Lys) c.1267C>A (p.Gln423Lys) n.251C>A n.1267C>A c.3634C>A (p.Gln1212Lys) c.3505C>A (p.Gln1169Lys) c.3493C>A (p.Gln1165Lys) c.3466C>A (p.Gln1156Lys) n.4044C>A n.4046C>A c.3814C>A (p.Gln1272Lys) c.3583C>A (p.Gln1195Lys) n.3829C>A | gnomAD v4 |
| 11 | g.77190113C= | CA1984123226 | MYO7A | c.3724C= (p.Gln1242=) c.1565C= c.3691C= (p.Gln1231=) c.1267C= (p.Gln423=) n.251C= n.1267C= c.3634C= (p.Gln1212=) c.3505C= (p.Gln1169=) c.3493C= (p.Gln1165=) c.3466C= (p.Gln1156=) n.4044C= n.4046C= c.3814C= (p.Gln1272=) c.3583C= (p.Gln1195=) n.3829C= | |
| 11 | g.77190113C>G | CA381947290 | MYO7A | c.3724C>G (p.Gln1242Glu) c.1565C>G c.3691C>G (p.Gln1231Glu) c.1267C>G (p.Gln423Glu) n.251C>G n.1267C>G c.3634C>G (p.Gln1212Glu) c.3505C>G (p.Gln1169Glu) c.3493C>G (p.Gln1165Glu) c.3466C>G (p.Gln1156Glu) n.4044C>G n.4046C>G c.3814C>G (p.Gln1272Glu) c.3583C>G (p.Gln1195Glu) n.3829C>G | |
| 11 | g.77190113C>T | CA16042854 | MYO7A | c.3724C>T (p.Gln1242Ter) c.1565C>T c.3691C>T (p.Gln1231Ter) c.1267C>T (p.Gln423Ter) n.251C>T n.1267C>T c.3634C>T (p.Gln1212Ter) c.3505C>T (p.Gln1169Ter) c.3493C>T (p.Gln1165Ter) c.3466C>T (p.Gln1156Ter) n.4044C>T n.4046C>T c.3814C>T (p.Gln1272Ter) c.3583C>T (p.Gln1195Ter) n.3829C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77190114A= | CA1984123232 | MYO7A | c.3725A= (p.Gln1242=) c.1566A= c.3692A= (p.Gln1231=) c.1268A= (p.Gln423=) n.252A= n.1268A= c.3635A= (p.Gln1212=) c.3506A= (p.Gln1169=) c.3494A= (p.Gln1165=) c.3467A= (p.Gln1156=) n.4045A= n.4047A= c.3815A= (p.Gln1272=) c.3584A= (p.Gln1195=) n.3830A= | |
| 11 | g.77190114A>C | CA381947291 | MYO7A | c.3725A>C (p.Gln1242Pro) c.1566A>C c.3692A>C (p.Gln1231Pro) c.1268A>C (p.Gln423Pro) n.252A>C n.1268A>C c.3635A>C (p.Gln1212Pro) c.3506A>C (p.Gln1169Pro) c.3494A>C (p.Gln1165Pro) c.3467A>C (p.Gln1156Pro) n.4045A>C n.4047A>C c.3815A>C (p.Gln1272Pro) c.3584A>C (p.Gln1195Pro) n.3830A>C | gnomAD v4 |
| 11 | g.77190114A>G | CA381947292 | MYO7A | c.3725A>G (p.Gln1242Arg) c.1566A>G c.3692A>G (p.Gln1231Arg) c.1268A>G (p.Gln423Arg) n.252A>G n.1268A>G c.3635A>G (p.Gln1212Arg) c.3506A>G (p.Gln1169Arg) c.3494A>G (p.Gln1165Arg) c.3467A>G (p.Gln1156Arg) n.4045A>G n.4047A>G c.3815A>G (p.Gln1272Arg) c.3584A>G (p.Gln1195Arg) n.3830A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77190114A>T | CA381947294 | MYO7A | c.3725A>T (p.Gln1242Leu) c.1566A>T c.3692A>T (p.Gln1231Leu) c.1268A>T (p.Gln423Leu) n.252A>T n.1268A>T c.3635A>T (p.Gln1212Leu) c.3506A>T (p.Gln1169Leu) c.3494A>T (p.Gln1165Leu) c.3467A>T (p.Gln1156Leu) n.4045A>T n.4047A>T c.3815A>T (p.Gln1272Leu) c.3584A>T (p.Gln1195Leu) n.3830A>T | gnomAD v4 |
| 11 | g.77190115G>A | CA475796049 | MYO7A | c.3726G>A (p.Gln1242=) c.1567G>A c.3693G>A (p.Gln1231=) c.1269G>A (p.Gln423=) n.253G>A n.1269G>A c.3636G>A (p.Gln1212=) c.3507G>A (p.Gln1169=) c.3495G>A (p.Gln1165=) c.3468G>A (p.Gln1156=) n.4046G>A n.4048G>A c.3816G>A (p.Gln1272=) c.3585G>A (p.Gln1195=) n.3831G>A | ClinVar gnomAD v4 |
| 11 | g.77190115G>C | CA381947295 | MYO7A | c.3726G>C (p.Gln1242His) c.1567G>C c.3693G>C (p.Gln1231His) c.1269G>C (p.Gln423His) n.253G>C n.1269G>C c.3636G>C (p.Gln1212His) c.3507G>C (p.Gln1169His) c.3495G>C (p.Gln1165His) c.3468G>C (p.Gln1156His) n.4046G>C n.4048G>C c.3816G>C (p.Gln1272His) c.3585G>C (p.Gln1195His) n.3831G>C | |
| 11 | g.77190115G= | CA1984123235 | MYO7A | c.3726G= (p.Gln1242=) c.1567G= c.3693G= (p.Gln1231=) c.1269G= (p.Gln423=) n.253G= n.1269G= c.3636G= (p.Gln1212=) c.3507G= (p.Gln1169=) c.3495G= (p.Gln1165=) c.3468G= (p.Gln1156=) n.4046G= n.4048G= c.3816G= (p.Gln1272=) c.3585G= (p.Gln1195=) n.3831G= | |
| 11 | g.77190115G>T | CA381947296 | MYO7A | c.3726G>T (p.Gln1242His) c.1567G>T c.3693G>T (p.Gln1231His) c.1269G>T (p.Gln423His) n.253G>T n.1269G>T c.3636G>T (p.Gln1212His) c.3507G>T (p.Gln1169His) c.3495G>T (p.Gln1165His) c.3468G>T (p.Gln1156His) n.4046G>T n.4048G>T c.3816G>T (p.Gln1272His) c.3585G>T (p.Gln1195His) n.3831G>T | gnomAD v4 |
| 11 | g.77190116C>A | CA381947297 | MYO7A | c.3727C>A (p.Pro1243Thr) c.1568C>A c.3694C>A (p.Pro1232Thr) c.1270C>A (p.Pro424Thr) n.254C>A n.1270C>A c.3637C>A (p.Pro1213Thr) c.3508C>A (p.Pro1170Thr) c.3496C>A (p.Pro1166Thr) c.3469C>A (p.Pro1157Thr) n.4047C>A n.4049C>A c.3817C>A (p.Pro1273Thr) c.3586C>A (p.Pro1196Thr) n.3832C>A | gnomAD v4 |
| 11 | g.77190116C>G | CA381947298 | MYO7A | c.3727C>G (p.Pro1243Ala) c.1568C>G c.3694C>G (p.Pro1232Ala) c.1270C>G (p.Pro424Ala) n.254C>G n.1270C>G c.3637C>G (p.Pro1213Ala) c.3508C>G (p.Pro1170Ala) c.3496C>G (p.Pro1166Ala) c.3469C>G (p.Pro1157Ala) n.4047C>G n.4049C>G c.3817C>G (p.Pro1273Ala) c.3586C>G (p.Pro1196Ala) n.3832C>G | |
| 11 | g.77190116C>T | CA381947299 | MYO7A | c.3727C>T (p.Pro1243Ser) c.1568C>T c.3694C>T (p.Pro1232Ser) c.1270C>T (p.Pro424Ser) n.254C>T n.1270C>T c.3637C>T (p.Pro1213Ser) c.3508C>T (p.Pro1170Ser) c.3496C>T (p.Pro1166Ser) c.3469C>T (p.Pro1157Ser) n.4047C>T n.4049C>T c.3817C>T (p.Pro1273Ser) c.3586C>T (p.Pro1196Ser) n.3832C>T | gnomAD v4 |
| 11 | g.77190117dup | CA278658 | MYO7A | c.3728dup (p.Pro1244AlafsTer?) c.1569dup c.3695dup (p.Pro1233AlafsTer?) c.1271dup (p.Pro425AlafsTer?) n.255dup n.1271dup c.3638dup (p.Pro1214AlafsTer?) c.3509dup (p.Pro1171AlafsTer?) c.3497dup (p.Pro1167AlafsTer?) c.3470dup (p.Pro1158AlafsTer?) n.4048dup n.4050dup c.3818dup (p.Pro1274AlafsTer?) c.3587dup (p.Pro1197AlafsTer?) n.3833dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77190117C>A | CA381947300 | MYO7A | c.3728C>A (p.Pro1243Gln) c.1569C>A c.3695C>A (p.Pro1232Gln) c.1271C>A (p.Pro424Gln) n.255C>A n.1271C>A c.3638C>A (p.Pro1213Gln) c.3509C>A (p.Pro1170Gln) c.3497C>A (p.Pro1166Gln) c.3470C>A (p.Pro1157Gln) n.4048C>A n.4050C>A c.3818C>A (p.Pro1273Gln) c.3587C>A (p.Pro1196Gln) n.3833C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77190117C= | CA1984123253 | MYO7A | c.3728C= (p.Pro1243=) c.1569C= c.3695C= (p.Pro1232=) c.1271C= (p.Pro424=) n.255C= n.1271C= c.3638C= (p.Pro1213=) c.3509C= (p.Pro1170=) c.3497C= (p.Pro1166=) c.3470C= (p.Pro1157=) n.4048C= n.4050C= c.3818C= (p.Pro1273=) c.3587C= (p.Pro1196=) n.3833C= | |
| 11 | g.77190117C>G | CA381947301 | MYO7A | c.3728C>G (p.Pro1243Arg) c.1569C>G c.3695C>G (p.Pro1232Arg) c.1271C>G (p.Pro424Arg) n.255C>G n.1271C>G c.3638C>G (p.Pro1213Arg) c.3509C>G (p.Pro1170Arg) c.3497C>G (p.Pro1166Arg) c.3470C>G (p.Pro1157Arg) n.4048C>G n.4050C>G c.3818C>G (p.Pro1273Arg) c.3587C>G (p.Pro1196Arg) n.3833C>G | ClinVar dbSNP |
| 11 | g.77190117C>T | CA6198178 | MYO7A | c.3728C>T (p.Pro1243Leu) c.1569C>T c.3695C>T (p.Pro1232Leu) c.1271C>T (p.Pro424Leu) n.255C>T n.1271C>T c.3638C>T (p.Pro1213Leu) c.3509C>T (p.Pro1170Leu) c.3497C>T (p.Pro1166Leu) c.3470C>T (p.Pro1157Leu) n.4048C>T n.4050C>T c.3818C>T (p.Pro1273Leu) c.3587C>T (p.Pro1196Leu) n.3833C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77190118G>A | CA234292 | MYO7A | c.3729G>A (p.Pro1243=) c.1570G>A c.3696G>A (p.Pro1232=) c.1272G>A (p.Pro424=) n.256G>A n.1272G>A c.3639G>A (p.Pro1213=) c.3510G>A (p.Pro1170=) c.3498G>A (p.Pro1166=) c.3471G>A (p.Pro1157=) n.4049G>A n.4051G>A c.3819G>A (p.Pro1273=) c.3588G>A (p.Pro1196=) n.3834G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77190118G>C | CA475796050 | MYO7A | c.3729G>C (p.Pro1243=) c.1570G>C c.3696G>C (p.Pro1232=) c.1272G>C (p.Pro424=) n.256G>C n.1272G>C c.3639G>C (p.Pro1213=) c.3510G>C (p.Pro1170=) c.3498G>C (p.Pro1166=) c.3471G>C (p.Pro1157=) n.4049G>C n.4051G>C c.3819G>C (p.Pro1273=) c.3588G>C (p.Pro1196=) n.3834G>C | |
| 11 | g.77190118G= | CA1984123256 | MYO7A | c.3729G= (p.Pro1243=) c.1570G= c.3696G= (p.Pro1232=) c.1272G= (p.Pro424=) n.256G= n.1272G= c.3639G= (p.Pro1213=) c.3510G= (p.Pro1170=) c.3498G= (p.Pro1166=) c.3471G= (p.Pro1157=) n.4049G= n.4051G= c.3819G= (p.Pro1273=) c.3588G= (p.Pro1196=) n.3834G= | |
| 11 | g.77190118G>T | CA475796051 | MYO7A | c.3729G>T (p.Pro1243=) c.1570G>T c.3696G>T (p.Pro1232=) c.1272G>T (p.Pro424=) n.256G>T n.1272G>T c.3639G>T (p.Pro1213=) c.3510G>T (p.Pro1170=) c.3498G>T (p.Pro1166=) c.3471G>T (p.Pro1157=) n.4049G>T n.4051G>T c.3819G>T (p.Pro1273=) c.3588G>T (p.Pro1196=) n.3834G>T | gnomAD v4 |
| 11 | g.77190118dup | CA1139662100 | MYO7A | c.3729dup (p.Pro1244AlafsTer?) c.1570dup c.3696dup (p.Pro1233AlafsTer?) c.1272dup (p.Pro425AlafsTer?) n.256dup n.1272dup c.3639dup (p.Pro1214AlafsTer?) c.3510dup (p.Pro1171AlafsTer?) c.3498dup (p.Pro1167AlafsTer?) c.3471dup (p.Pro1158AlafsTer?) n.4049dup n.4051dup c.3819dup (p.Pro1274AlafsTer?) c.3588dup (p.Pro1197AlafsTer?) n.3834dup | ClinVar dbSNP |
| 11 | g.77190119C>A | CA381947302 | MYO7A | c.3730C>A (p.Pro1244Thr) c.1571C>A c.3697C>A (p.Pro1233Thr) c.1273C>A (p.Pro425Thr) n.257C>A n.1273C>A c.3640C>A (p.Pro1214Thr) c.3511C>A (p.Pro1171Thr) c.3499C>A (p.Pro1167Thr) c.3472C>A (p.Pro1158Thr) n.4050C>A n.4052C>A c.3820C>A (p.Pro1274Thr) c.3589C>A (p.Pro1197Thr) n.3835C>A | gnomAD v4 |
| 11 | g.77190119C>G | CA381947304 | MYO7A | c.3730C>G (p.Pro1244Ala) c.1571C>G c.3697C>G (p.Pro1233Ala) c.1273C>G (p.Pro425Ala) n.257C>G n.1273C>G c.3640C>G (p.Pro1214Ala) c.3511C>G (p.Pro1171Ala) c.3499C>G (p.Pro1167Ala) c.3472C>G (p.Pro1158Ala) n.4050C>G n.4052C>G c.3820C>G (p.Pro1274Ala) c.3589C>G (p.Pro1197Ala) n.3835C>G | |
| 11 | g.77190119C>T | CA381947303 | MYO7A | c.3730C>T (p.Pro1244Ser) c.1571C>T c.3697C>T (p.Pro1233Ser) c.1273C>T (p.Pro425Ser) n.257C>T n.1273C>T c.3640C>T (p.Pro1214Ser) c.3511C>T (p.Pro1171Ser) c.3499C>T (p.Pro1167Ser) c.3472C>T (p.Pro1158Ser) n.4050C>T n.4052C>T c.3820C>T (p.Pro1274Ser) c.3589C>T (p.Pro1197Ser) n.3835C>T | |
| 11 | g.77190120C>A | CA381947305 | MYO7A | c.3731C>A (p.Pro1244His) c.1572C>A c.3698C>A (p.Pro1233His) c.1274C>A (p.Pro425His) n.258C>A n.1274C>A c.3641C>A (p.Pro1214His) c.3512C>A (p.Pro1171His) c.3500C>A (p.Pro1167His) c.3473C>A (p.Pro1158His) n.4051C>A n.4053C>A c.3821C>A (p.Pro1274His) c.3590C>A (p.Pro1197His) n.3836C>A | gnomAD v4 |
| 11 | g.77190120C>G | CA381947306 | MYO7A | c.3731C>G (p.Pro1244Arg) c.1572C>G c.3698C>G (p.Pro1233Arg) c.1274C>G (p.Pro425Arg) n.258C>G n.1274C>G c.3641C>G (p.Pro1214Arg) c.3512C>G (p.Pro1171Arg) c.3500C>G (p.Pro1167Arg) c.3473C>G (p.Pro1158Arg) n.4051C>G n.4053C>G c.3821C>G (p.Pro1274Arg) c.3590C>G (p.Pro1197Arg) n.3836C>G | gnomAD v4 |
| 11 | g.77190120C>T | CA381947307 | MYO7A | c.3731C>T (p.Pro1244Leu) c.1572C>T c.3698C>T (p.Pro1233Leu) c.1274C>T (p.Pro425Leu) n.258C>T n.1274C>T c.3641C>T (p.Pro1214Leu) c.3512C>T (p.Pro1171Leu) c.3500C>T (p.Pro1167Leu) c.3473C>T (p.Pro1158Leu) n.4051C>T n.4053C>T c.3821C>T (p.Pro1274Leu) c.3590C>T (p.Pro1197Leu) n.3836C>T | gnomAD v4 |
| 11 | g.77190121C>A | CA475796052 | MYO7A | c.3732C>A (p.Pro1244=) c.1573C>A c.3699C>A (p.Pro1233=) c.1275C>A (p.Pro425=) n.259C>A n.1275C>A c.3642C>A (p.Pro1214=) c.3513C>A (p.Pro1171=) c.3501C>A (p.Pro1167=) c.3474C>A (p.Pro1158=) n.4052C>A n.4054C>A c.3822C>A (p.Pro1274=) c.3591C>A (p.Pro1197=) n.3837C>A | gnomAD v4 |
| 11 | g.77190121C= | CA1984123260 | MYO7A | c.3732C= (p.Pro1244=) c.1573C= c.3699C= (p.Pro1233=) c.1275C= (p.Pro425=) n.259C= n.1275C= c.3642C= (p.Pro1214=) c.3513C= (p.Pro1171=) c.3501C= (p.Pro1167=) c.3474C= (p.Pro1158=) n.4052C= n.4054C= c.3822C= (p.Pro1274=) c.3591C= (p.Pro1197=) n.3837C= | |
| 11 | g.77190121C>G | CA475796053 | MYO7A | c.3732C>G (p.Pro1244=) c.1573C>G c.3699C>G (p.Pro1233=) c.1275C>G (p.Pro425=) n.259C>G n.1275C>G c.3642C>G (p.Pro1214=) c.3513C>G (p.Pro1171=) c.3501C>G (p.Pro1167=) c.3474C>G (p.Pro1158=) n.4052C>G n.4054C>G c.3822C>G (p.Pro1274=) c.3591C>G (p.Pro1197=) n.3837C>G | gnomAD v4 |
| 11 | g.77190121C>T | CA475796054 | MYO7A | c.3732C>T (p.Pro1244=) c.1573C>T c.3699C>T (p.Pro1233=) c.1275C>T (p.Pro425=) n.259C>T n.1275C>T c.3642C>T (p.Pro1214=) c.3513C>T (p.Pro1171=) c.3501C>T (p.Pro1167=) c.3474C>T (p.Pro1158=) n.4052C>T n.4054C>T c.3822C>T (p.Pro1274=) c.3591C>T (p.Pro1197=) n.3837C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77190122A>C | CA381947308 | MYO7A | c.3733A>C (p.Ser1245Arg) c.1574A>C c.3700A>C (p.Ser1234Arg) c.1276A>C (p.Ser426Arg) n.260A>C n.1276A>C c.3643A>C (p.Ser1215Arg) c.3514A>C (p.Ser1172Arg) c.3502A>C (p.Ser1168Arg) c.3475A>C (p.Ser1159Arg) n.4053A>C n.4055A>C c.3823A>C (p.Ser1275Arg) c.3592A>C (p.Ser1198Arg) n.3838A>C | |
| 11 | g.77190122A>G | CA381947309 | MYO7A | c.3733A>G (p.Ser1245Gly) c.1574A>G c.3700A>G (p.Ser1234Gly) c.1276A>G (p.Ser426Gly) n.260A>G n.1276A>G c.3643A>G (p.Ser1215Gly) c.3514A>G (p.Ser1172Gly) c.3502A>G (p.Ser1168Gly) c.3475A>G (p.Ser1159Gly) n.4053A>G n.4055A>G c.3823A>G (p.Ser1275Gly) c.3592A>G (p.Ser1198Gly) n.3838A>G | gnomAD v4 |
| 11 | g.77190122A>T | CA381947310 | MYO7A | c.3733A>T (p.Ser1245Cys) c.1574A>T c.3700A>T (p.Ser1234Cys) c.1276A>T (p.Ser426Cys) n.260A>T n.1276A>T c.3643A>T (p.Ser1215Cys) c.3514A>T (p.Ser1172Cys) c.3502A>T (p.Ser1168Cys) c.3475A>T (p.Ser1159Cys) n.4053A>T n.4055A>T c.3823A>T (p.Ser1275Cys) c.3592A>T (p.Ser1198Cys) n.3838A>T | |
| 11 | g.77190123G>A | CA381947311 | MYO7A | c.3734G>A (p.Ser1245Asn) c.1575G>A c.3701G>A (p.Ser1234Asn) c.1277G>A (p.Ser426Asn) n.261G>A n.1277G>A c.3644G>A (p.Ser1215Asn) c.3515G>A (p.Ser1172Asn) c.3503G>A (p.Ser1168Asn) c.3476G>A (p.Ser1159Asn) n.4054G>A n.4056G>A c.3824G>A (p.Ser1275Asn) c.3593G>A (p.Ser1198Asn) n.3839G>A | gnomAD v4 |
| 11 | g.77190123G>C | CA381947312 | MYO7A | c.3734G>C (p.Ser1245Thr) c.1575G>C c.3701G>C (p.Ser1234Thr) c.1277G>C (p.Ser426Thr) n.261G>C n.1277G>C c.3644G>C (p.Ser1215Thr) c.3515G>C (p.Ser1172Thr) c.3503G>C (p.Ser1168Thr) c.3476G>C (p.Ser1159Thr) n.4054G>C n.4056G>C c.3824G>C (p.Ser1275Thr) c.3593G>C (p.Ser1198Thr) n.3839G>C | |
| 11 | g.77190123G>T | CA381947314 | MYO7A | c.3734G>T (p.Ser1245Ile) c.1575G>T c.3701G>T (p.Ser1234Ile) c.1277G>T (p.Ser426Ile) n.261G>T n.1277G>T c.3644G>T (p.Ser1215Ile) c.3515G>T (p.Ser1172Ile) c.3503G>T (p.Ser1168Ile) c.3476G>T (p.Ser1159Ile) n.4054G>T n.4056G>T c.3824G>T (p.Ser1275Ile) c.3593G>T (p.Ser1198Ile) n.3839G>T | gnomAD v4 |
| 11 | g.77190124C>A | CA381947316 | MYO7A | c.3735C>A (p.Ser1245Arg) c.1576C>A c.3702C>A (p.Ser1234Arg) c.1278C>A (p.Ser426Arg) n.262C>A n.1278C>A c.3645C>A (p.Ser1215Arg) c.3516C>A (p.Ser1172Arg) c.3504C>A (p.Ser1168Arg) c.3477C>A (p.Ser1159Arg) n.4055C>A n.4057C>A c.3825C>A (p.Ser1275Arg) c.3594C>A (p.Ser1198Arg) n.3840C>A | gnomAD v4 |
| 11 | g.77190124C= | CA1984123263 | MYO7A | c.3735C= (p.Ser1245=) c.1576C= c.3702C= (p.Ser1234=) c.1278C= (p.Ser426=) n.262C= n.1278C= c.3645C= (p.Ser1215=) c.3516C= (p.Ser1172=) c.3504C= (p.Ser1168=) c.3477C= (p.Ser1159=) n.4055C= n.4057C= c.3825C= (p.Ser1275=) c.3594C= (p.Ser1198=) n.3840C= | |
| 11 | g.77190124C>G | CA381947317 | MYO7A | c.3735C>G (p.Ser1245Arg) c.1576C>G c.3702C>G (p.Ser1234Arg) c.1278C>G (p.Ser426Arg) n.262C>G n.1278C>G c.3645C>G (p.Ser1215Arg) c.3516C>G (p.Ser1172Arg) c.3504C>G (p.Ser1168Arg) c.3477C>G (p.Ser1159Arg) n.4055C>G n.4057C>G c.3825C>G (p.Ser1275Arg) c.3594C>G (p.Ser1198Arg) n.3840C>G | |
| 11 | g.77190124C>T | CA475796055 | MYO7A | c.3735C>T (p.Ser1245=) c.1576C>T c.3702C>T (p.Ser1234=) c.1278C>T (p.Ser426=) n.262C>T n.1278C>T c.3645C>T (p.Ser1215=) c.3516C>T (p.Ser1172=) c.3504C>T (p.Ser1168=) c.3477C>T (p.Ser1159=) n.4055C>T n.4057C>T c.3825C>T (p.Ser1275=) c.3594C>T (p.Ser1198=) n.3840C>T | dbSNP gnomAD v4 |
| 11 | g.77190125T>A | CA381947320 | MYO7A | c.3736T>A (p.Trp1246Arg) c.1577T>A c.3703T>A (p.Trp1235Arg) c.1279T>A (p.Trp427Arg) n.263T>A n.1279T>A c.3646T>A (p.Trp1216Arg) c.3517T>A (p.Trp1173Arg) c.3505T>A (p.Trp1169Arg) c.3478T>A (p.Trp1160Arg) n.4056T>A n.4058T>A c.3826T>A (p.Trp1276Arg) c.3595T>A (p.Trp1199Arg) n.3841T>A |