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.77183079C>A | CA475795770 | MYO7A | c.3297C>A (p.Pro1099=) c.1362C>A (p.Pro454=) c.1138C>A c.3264C>A (p.Pro1088=) c.840C>A (p.Pro280=) n.840C>A c.3306C>A (p.Pro1102=) c.3285+479C>A (n.3285+479C>A) c.3078C>A (p.Pro1026=) c.3066C>A (p.Pro1022=) c.3039C>A (p.Pro1013=) n.3617C>A n.3619C>A c.3387C>A (p.Pro1129=) c.3375+479C>A (n.3375+479C>A) c.3156C>A (p.Pro1052=) n.3402C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77183079C= | CA1984114936 | MYO7A | c.3297C= (p.Pro1099=) c.1362C= (p.Pro454=) c.1138C= c.3264C= (p.Pro1088=) c.840C= (p.Pro280=) n.840C= c.3306C= (p.Pro1102=) c.3285+479C= (n.3285+479C=) c.3078C= (p.Pro1026=) c.3066C= (p.Pro1022=) c.3039C= (p.Pro1013=) n.3617C= n.3619C= c.3387C= (p.Pro1129=) c.3375+479C= (n.3375+479C=) c.3156C= (p.Pro1052=) n.3402C= | |
| 11 | g.77183079C>G | CA475795769 | MYO7A | c.3297C>G (p.Pro1099=) c.1362C>G (p.Pro454=) c.1138C>G c.3264C>G (p.Pro1088=) c.840C>G (p.Pro280=) n.840C>G c.3306C>G (p.Pro1102=) c.3285+479C>G (n.3285+479C>G) c.3078C>G (p.Pro1026=) c.3066C>G (p.Pro1022=) c.3039C>G (p.Pro1013=) n.3617C>G n.3619C>G c.3387C>G (p.Pro1129=) c.3375+479C>G (n.3375+479C>G) c.3156C>G (p.Pro1052=) n.3402C>G | ClinVar gnomAD v4 |
| 11 | g.77183079C>T | CA6198027 | MYO7A | c.3297C>T (p.Pro1099=) c.1362C>T (p.Pro454=) c.1138C>T c.3264C>T (p.Pro1088=) c.840C>T (p.Pro280=) n.840C>T c.3306C>T (p.Pro1102=) c.3285+479C>T (n.3285+479C>T) c.3078C>T (p.Pro1026=) c.3066C>T (p.Pro1022=) c.3039C>T (p.Pro1013=) n.3617C>T n.3619C>T c.3387C>T (p.Pro1129=) c.3375+479C>T (n.3375+479C>T) c.3156C>T (p.Pro1052=) n.3402C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77183080G>A | CA381945401 | MYO7A | c.3298G>A (p.Glu1100Lys) c.1363G>A (p.Glu455Lys) c.1139G>A c.3265G>A (p.Glu1089Lys) c.841G>A (p.Glu281Lys) n.841G>A c.3307G>A (p.Glu1103Lys) c.3285+480G>A (n.3285+480G>A) c.3079G>A (p.Glu1027Lys) c.3067G>A (p.Glu1023Lys) c.3040G>A (p.Glu1014Lys) n.3618G>A n.3620G>A c.3388G>A (p.Glu1130Lys) c.3375+480G>A (n.3375+480G>A) c.3157G>A (p.Glu1053Lys) n.3403G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77183080G>C | CA381945404 | MYO7A | c.3298G>C (p.Glu1100Gln) c.1363G>C (p.Glu455Gln) c.1139G>C c.3265G>C (p.Glu1089Gln) c.841G>C (p.Glu281Gln) n.841G>C c.3307G>C (p.Glu1103Gln) c.3285+480G>C (n.3285+480G>C) c.3079G>C (p.Glu1027Gln) c.3067G>C (p.Glu1023Gln) c.3040G>C (p.Glu1014Gln) n.3618G>C n.3620G>C c.3388G>C (p.Glu1130Gln) c.3375+480G>C (n.3375+480G>C) c.3157G>C (p.Glu1053Gln) n.3403G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77183080G= | CA1984114941 | MYO7A | c.3298G= (p.Glu1100=) c.1363G= (p.Glu455=) c.1139G= c.3265G= (p.Glu1089=) c.841G= (p.Glu281=) n.841G= c.3307G= (p.Glu1103=) c.3285+480G= (n.3285+480G=) c.3079G= (p.Glu1027=) c.3067G= (p.Glu1023=) c.3040G= (p.Glu1014=) n.3618G= n.3620G= c.3388G= (p.Glu1130=) c.3375+480G= (n.3375+480G=) c.3157G= (p.Glu1053=) n.3403G= | |
| 11 | g.77183080G>T | CA6198028 | MYO7A | c.3298G>T (p.Glu1100Ter) c.1363G>T (p.Glu455Ter) c.1139G>T c.3265G>T (p.Glu1089Ter) c.841G>T (p.Glu281Ter) n.841G>T c.3307G>T (p.Glu1103Ter) c.3285+480G>T (n.3285+480G>T) c.3079G>T (p.Glu1027Ter) c.3067G>T (p.Glu1023Ter) c.3040G>T (p.Glu1014Ter) n.3618G>T n.3620G>T c.3388G>T (p.Glu1130Ter) c.3375+480G>T (n.3375+480G>T) c.3157G>T (p.Glu1053Ter) n.3403G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77183081A= | CA1984114946 | MYO7A | c.3299A= (p.Glu1100=) c.1364A= (p.Glu455=) c.1140A= c.3266A= (p.Glu1089=) c.842A= (p.Glu281=) n.842A= c.3308A= (p.Glu1103=) c.3285+481A= (n.3285+481A=) c.3080A= (p.Glu1027=) c.3068A= (p.Glu1023=) c.3041A= (p.Glu1014=) n.3619A= n.3621A= c.3389A= (p.Glu1130=) c.3375+481A= (n.3375+481A=) c.3158A= (p.Glu1053=) n.3404A= | |
| 11 | g.77183081A>C | CA381945409 | MYO7A | c.3299A>C (p.Glu1100Ala) c.1364A>C (p.Glu455Ala) c.1140A>C c.3266A>C (p.Glu1089Ala) c.842A>C (p.Glu281Ala) n.842A>C c.3308A>C (p.Glu1103Ala) c.3285+481A>C (n.3285+481A>C) c.3080A>C (p.Glu1027Ala) c.3068A>C (p.Glu1023Ala) c.3041A>C (p.Glu1014Ala) n.3619A>C n.3621A>C c.3389A>C (p.Glu1130Ala) c.3375+481A>C (n.3375+481A>C) c.3158A>C (p.Glu1053Ala) n.3404A>C | dbSNP |
| 11 | g.77183081A>G | CA381945412 | MYO7A | c.3299A>G (p.Glu1100Gly) c.1364A>G (p.Glu455Gly) c.1140A>G c.3266A>G (p.Glu1089Gly) c.842A>G (p.Glu281Gly) n.842A>G c.3308A>G (p.Glu1103Gly) c.3285+481A>G (n.3285+481A>G) c.3080A>G (p.Glu1027Gly) c.3068A>G (p.Glu1023Gly) c.3041A>G (p.Glu1014Gly) n.3619A>G n.3621A>G c.3389A>G (p.Glu1130Gly) c.3375+481A>G (n.3375+481A>G) c.3158A>G (p.Glu1053Gly) n.3404A>G | |
| 11 | g.77183081A>T | CA381945414 | MYO7A | c.3299A>T (p.Glu1100Val) c.1364A>T (p.Glu455Val) c.1140A>T c.3266A>T (p.Glu1089Val) c.842A>T (p.Glu281Val) n.842A>T c.3308A>T (p.Glu1103Val) c.3285+481A>T (n.3285+481A>T) c.3080A>T (p.Glu1027Val) c.3068A>T (p.Glu1023Val) c.3041A>T (p.Glu1014Val) n.3619A>T n.3621A>T c.3389A>T (p.Glu1130Val) c.3375+481A>T (n.3375+481A>T) c.3158A>T (p.Glu1053Val) n.3404A>T | |
| 11 | g.77183082G>A | CA475795771 | MYO7A | c.3300G>A (p.Glu1100=) c.1365G>A (p.Glu455=) c.1141G>A c.3267G>A (p.Glu1089=) c.843G>A (p.Glu281=) n.843G>A c.3309G>A (p.Glu1103=) c.3285+482G>A (n.3285+482G>A) c.3081G>A (p.Glu1027=) c.3069G>A (p.Glu1023=) c.3042G>A (p.Glu1014=) n.3620G>A n.3622G>A c.3390G>A (p.Glu1130=) c.3375+482G>A (n.3375+482G>A) c.3159G>A (p.Glu1053=) n.3405G>A | gnomAD v4 |
| 11 | g.77183082G>C | CA381945417 | MYO7A | c.3300G>C (p.Glu1100Asp) c.1365G>C (p.Glu455Asp) c.1141G>C c.3267G>C (p.Glu1089Asp) c.843G>C (p.Glu281Asp) n.843G>C c.3309G>C (p.Glu1103Asp) c.3285+482G>C (n.3285+482G>C) c.3081G>C (p.Glu1027Asp) c.3069G>C (p.Glu1023Asp) c.3042G>C (p.Glu1014Asp) n.3620G>C n.3622G>C c.3390G>C (p.Glu1130Asp) c.3375+482G>C (n.3375+482G>C) c.3159G>C (p.Glu1053Asp) n.3405G>C | |
| 11 | g.77183082G>T | CA381945422 | MYO7A | c.3300G>T (p.Glu1100Asp) c.1365G>T (p.Glu455Asp) c.1141G>T c.3267G>T (p.Glu1089Asp) c.843G>T (p.Glu281Asp) n.843G>T c.3309G>T (p.Glu1103Asp) c.3285+482G>T (n.3285+482G>T) c.3081G>T (p.Glu1027Asp) c.3069G>T (p.Glu1023Asp) c.3042G>T (p.Glu1014Asp) n.3620G>T n.3622G>T c.3390G>T (p.Glu1130Asp) c.3375+482G>T (n.3375+482G>T) c.3159G>T (p.Glu1053Asp) n.3405G>T | |
| 11 | g.77183083G>A | CA381945426 | MYO7A | c.3301G>A (p.Gly1101Ser) c.1366G>A (p.Gly456Ser) c.1142G>A c.3268G>A (p.Gly1090Ser) c.844G>A (p.Gly282Ser) n.844G>A c.3310G>A (p.Gly1104Ser) c.3285+483G>A (n.3285+483G>A) c.3082G>A (p.Gly1028Ser) c.3070G>A (p.Gly1024Ser) c.3043G>A (p.Gly1015Ser) n.3621G>A n.3623G>A c.3391G>A (p.Gly1131Ser) c.3375+483G>A (n.3375+483G>A) c.3160G>A (p.Gly1054Ser) n.3406G>A | gnomAD v4 |
| 11 | g.77183083G>C | CA381945429 | MYO7A | c.3301G>C (p.Gly1101Arg) c.1366G>C (p.Gly456Arg) c.1142G>C c.3268G>C (p.Gly1090Arg) c.844G>C (p.Gly282Arg) n.844G>C c.3310G>C (p.Gly1104Arg) c.3285+483G>C (n.3285+483G>C) c.3082G>C (p.Gly1028Arg) c.3070G>C (p.Gly1024Arg) c.3043G>C (p.Gly1015Arg) n.3621G>C n.3623G>C c.3391G>C (p.Gly1131Arg) c.3375+483G>C (n.3375+483G>C) c.3160G>C (p.Gly1054Arg) n.3406G>C | |
| 11 | g.77183083G>T | CA381945432 | MYO7A | c.3301G>T (p.Gly1101Cys) c.1366G>T (p.Gly456Cys) c.1142G>T c.3268G>T (p.Gly1090Cys) c.844G>T (p.Gly282Cys) n.844G>T c.3310G>T (p.Gly1104Cys) c.3285+483G>T (n.3285+483G>T) c.3082G>T (p.Gly1028Cys) c.3070G>T (p.Gly1024Cys) c.3043G>T (p.Gly1015Cys) n.3621G>T n.3623G>T c.3391G>T (p.Gly1131Cys) c.3375+483G>T (n.3375+483G>T) c.3160G>T (p.Gly1054Cys) n.3406G>T | gnomAD v4 |
| 11 | g.77183084G>A | CA381945437 | MYO7A | c.3302G>A (p.Gly1101Asp) c.1367G>A (p.Gly456Asp) c.1143G>A c.3269G>A (p.Gly1090Asp) c.845G>A (p.Gly282Asp) n.845G>A c.3311G>A (p.Gly1104Asp) c.3285+484G>A (n.3285+484G>A) c.3083G>A (p.Gly1028Asp) c.3071G>A (p.Gly1024Asp) c.3044G>A (p.Gly1015Asp) n.3622G>A n.3624G>A c.3392G>A (p.Gly1131Asp) c.3375+484G>A (n.3375+484G>A) c.3161G>A (p.Gly1054Asp) n.3407G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77183084G>C | CA381945439 | MYO7A | c.3302G>C (p.Gly1101Ala) c.1367G>C (p.Gly456Ala) c.1143G>C c.3269G>C (p.Gly1090Ala) c.845G>C (p.Gly282Ala) n.845G>C c.3311G>C (p.Gly1104Ala) c.3285+484G>C (n.3285+484G>C) c.3083G>C (p.Gly1028Ala) c.3071G>C (p.Gly1024Ala) c.3044G>C (p.Gly1015Ala) n.3622G>C n.3624G>C c.3392G>C (p.Gly1131Ala) c.3375+484G>C (n.3375+484G>C) c.3161G>C (p.Gly1054Ala) n.3407G>C | |
| 11 | g.77183084G= | CA1984114949 | MYO7A | c.3302G= (p.Gly1101=) c.1367G= (p.Gly456=) c.1143G= c.3269G= (p.Gly1090=) c.845G= (p.Gly282=) n.845G= c.3311G= (p.Gly1104=) c.3285+484G= (n.3285+484G=) c.3083G= (p.Gly1028=) c.3071G= (p.Gly1024=) c.3044G= (p.Gly1015=) n.3622G= n.3624G= c.3392G= (p.Gly1131=) c.3375+484G= (n.3375+484G=) c.3161G= (p.Gly1054=) n.3407G= | |
| 11 | g.77183084G>T | CA381945434 | MYO7A | c.3302G>T (p.Gly1101Val) c.1367G>T (p.Gly456Val) c.1143G>T c.3269G>T (p.Gly1090Val) c.845G>T (p.Gly282Val) n.845G>T c.3311G>T (p.Gly1104Val) c.3285+484G>T (n.3285+484G>T) c.3083G>T (p.Gly1028Val) c.3071G>T (p.Gly1024Val) c.3044G>T (p.Gly1015Val) n.3622G>T n.3624G>T c.3392G>T (p.Gly1131Val) c.3375+484G>T (n.3375+484G>T) c.3161G>T (p.Gly1054Val) n.3407G>T | gnomAD v4 COSMIC |
| 11 | g.77183085C>A | CA475795772 | MYO7A | c.3303C>A (p.Gly1101=) c.1368C>A (p.Gly456=) c.1144C>A c.3270C>A (p.Gly1090=) c.846C>A (p.Gly282=) n.846C>A c.3312C>A (p.Gly1104=) c.3285+485C>A (n.3285+485C>A) c.3084C>A (p.Gly1028=) c.3072C>A (p.Gly1024=) c.3045C>A (p.Gly1015=) n.3623C>A n.3625C>A c.3393C>A (p.Gly1131=) c.3375+485C>A (n.3375+485C>A) c.3162C>A (p.Gly1054=) n.3408C>A | gnomAD v4 |
| 11 | g.77183085C>G | CA475795774 | MYO7A | c.3303C>G (p.Gly1101=) c.1368C>G (p.Gly456=) c.1144C>G c.3270C>G (p.Gly1090=) c.846C>G (p.Gly282=) n.846C>G c.3312C>G (p.Gly1104=) c.3285+485C>G (n.3285+485C>G) c.3084C>G (p.Gly1028=) c.3072C>G (p.Gly1024=) c.3045C>G (p.Gly1015=) n.3623C>G n.3625C>G c.3393C>G (p.Gly1131=) c.3375+485C>G (n.3375+485C>G) c.3162C>G (p.Gly1054=) n.3408C>G | |
| 11 | g.77183085C>T | CA475795773 | MYO7A | c.3303C>T (p.Gly1101=) c.1368C>T (p.Gly456=) c.1144C>T c.3270C>T (p.Gly1090=) c.846C>T (p.Gly282=) n.846C>T c.3312C>T (p.Gly1104=) c.3285+485C>T (n.3285+485C>T) c.3084C>T (p.Gly1028=) c.3072C>T (p.Gly1024=) c.3045C>T (p.Gly1015=) n.3623C>T n.3625C>T c.3393C>T (p.Gly1131=) c.3375+485C>T (n.3375+485C>T) c.3162C>T (p.Gly1054=) n.3408C>T | gnomAD v4 |
| 11 | g.77183086C>A | CA381945441 | MYO7A | c.3304C>A (p.Gln1102Lys) c.1369C>A (p.Gln457Lys) c.1145C>A c.3271C>A (p.Gln1091Lys) c.847C>A (p.Gln283Lys) n.847C>A c.3313C>A (p.Gln1105Lys) c.3285+486C>A (n.3285+486C>A) c.3085C>A (p.Gln1029Lys) c.3073C>A (p.Gln1025Lys) c.3046C>A (p.Gln1016Lys) n.3624C>A n.3626C>A c.3394C>A (p.Gln1132Lys) c.3375+486C>A (n.3375+486C>A) c.3163C>A (p.Gln1055Lys) n.3409C>A | gnomAD v4 |
| 11 | g.77183086C>G | CA381945443 | MYO7A | c.3304C>G (p.Gln1102Glu) c.1369C>G (p.Gln457Glu) c.1145C>G c.3271C>G (p.Gln1091Glu) c.847C>G (p.Gln283Glu) n.847C>G c.3313C>G (p.Gln1105Glu) c.3285+486C>G (n.3285+486C>G) c.3085C>G (p.Gln1029Glu) c.3073C>G (p.Gln1025Glu) c.3046C>G (p.Gln1016Glu) n.3624C>G n.3626C>G c.3394C>G (p.Gln1132Glu) c.3375+486C>G (n.3375+486C>G) c.3163C>G (p.Gln1055Glu) n.3409C>G | |
| 11 | g.77183086C>T | CA381945446 | MYO7A | c.3304C>T (p.Gln1102Ter) c.1369C>T (p.Gln457Ter) c.1145C>T c.3271C>T (p.Gln1091Ter) c.847C>T (p.Gln283Ter) n.847C>T c.3313C>T (p.Gln1105Ter) c.3285+486C>T (n.3285+486C>T) c.3085C>T (p.Gln1029Ter) c.3073C>T (p.Gln1025Ter) c.3046C>T (p.Gln1016Ter) n.3624C>T n.3626C>T c.3394C>T (p.Gln1132Ter) c.3375+486C>T (n.3375+486C>T) c.3163C>T (p.Gln1055Ter) n.3409C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77183087A>C | CA381945450 | MYO7A | c.3305A>C (p.Gln1102Pro) c.1370A>C (p.Gln457Pro) c.1146A>C c.3272A>C (p.Gln1091Pro) c.848A>C (p.Gln283Pro) n.848A>C c.3314A>C (p.Gln1105Pro) c.3285+487A>C (n.3285+487A>C) c.3086A>C (p.Gln1029Pro) c.3074A>C (p.Gln1025Pro) c.3047A>C (p.Gln1016Pro) n.3625A>C n.3627A>C c.3395A>C (p.Gln1132Pro) c.3375+487A>C (n.3375+487A>C) c.3164A>C (p.Gln1055Pro) n.3410A>C | |
| 11 | g.77183087A>G | CA381945451 | MYO7A | c.3305A>G (p.Gln1102Arg) c.1370A>G (p.Gln457Arg) c.1146A>G c.3272A>G (p.Gln1091Arg) c.848A>G (p.Gln283Arg) n.848A>G c.3314A>G (p.Gln1105Arg) c.3285+487A>G (n.3285+487A>G) c.3086A>G (p.Gln1029Arg) c.3074A>G (p.Gln1025Arg) c.3047A>G (p.Gln1016Arg) n.3625A>G n.3627A>G c.3395A>G (p.Gln1132Arg) c.3375+487A>G (n.3375+487A>G) c.3164A>G (p.Gln1055Arg) n.3410A>G | |
| 11 | g.77183087A>T | CA381945453 | MYO7A | c.3305A>T (p.Gln1102Leu) c.1370A>T (p.Gln457Leu) c.1146A>T c.3272A>T (p.Gln1091Leu) c.848A>T (p.Gln283Leu) n.848A>T c.3314A>T (p.Gln1105Leu) c.3285+487A>T (n.3285+487A>T) c.3086A>T (p.Gln1029Leu) c.3074A>T (p.Gln1025Leu) c.3047A>T (p.Gln1016Leu) n.3625A>T n.3627A>T c.3395A>T (p.Gln1132Leu) c.3375+487A>T (n.3375+487A>T) c.3164A>T (p.Gln1055Leu) n.3410A>T | gnomAD v4 |
| 11 | g.77183093_77183095del | CA2615260014 | MYO7A | c.3311_3313del (p.Lys1104del) c.1376_1378del (p.Lys459del) c.1152_1154del c.3278_3280del (p.Lys1093del) c.854_856del (p.Lys285del) n.854_856del c.3320_3322del (p.Lys1107del) c.3285+493_3285+495del (n.3285+493_3285+495del) c.3092_3094del (p.Lys1031del) c.3080_3082del (p.Lys1027del) c.3053_3055del (p.Lys1018del) n.3631_3633del n.3633_3635del c.3401_3403del (p.Lys1134del) c.3375+493_3375+495del (n.3375+493_3375+495del) c.3170_3172del (p.Lys1057del) n.3416_3418del | gnomAD v4 |
| 11 | g.77183088G>A | CA475795775 | MYO7A | c.3306G>A (p.Gln1102=) c.1371G>A (p.Gln457=) c.1147G>A c.3273G>A (p.Gln1091=) c.849G>A (p.Gln283=) n.849G>A c.3315G>A (p.Gln1105=) c.3285+488G>A (n.3285+488G>A) c.3087G>A (p.Gln1029=) c.3075G>A (p.Gln1025=) c.3048G>A (p.Gln1016=) n.3626G>A n.3628G>A c.3396G>A (p.Gln1132=) c.3375+488G>A (n.3375+488G>A) c.3165G>A (p.Gln1055=) n.3411G>A | gnomAD v4 |
| 11 | g.77183088G>C | CA381945455 | MYO7A | c.3306G>C (p.Gln1102His) c.1371G>C (p.Gln457His) c.1147G>C c.3273G>C (p.Gln1091His) c.849G>C (p.Gln283His) n.849G>C c.3315G>C (p.Gln1105His) c.3285+488G>C (n.3285+488G>C) c.3087G>C (p.Gln1029His) c.3075G>C (p.Gln1025His) c.3048G>C (p.Gln1016His) n.3626G>C n.3628G>C c.3396G>C (p.Gln1132His) c.3375+488G>C (n.3375+488G>C) c.3165G>C (p.Gln1055His) n.3411G>C | |
| 11 | g.77183088G>T | CA381945458 | MYO7A | c.3306G>T (p.Gln1102His) c.1371G>T (p.Gln457His) c.1147G>T c.3273G>T (p.Gln1091His) c.849G>T (p.Gln283His) n.849G>T c.3315G>T (p.Gln1105His) c.3285+488G>T (n.3285+488G>T) c.3087G>T (p.Gln1029His) c.3075G>T (p.Gln1025His) c.3048G>T (p.Gln1016His) n.3626G>T n.3628G>T c.3396G>T (p.Gln1132His) c.3375+488G>T (n.3375+488G>T) c.3165G>T (p.Gln1055His) n.3411G>T | gnomAD v4 |
| 11 | g.77183089A>C | CA381945461 | MYO7A | c.3307A>C (p.Lys1103Gln) c.1372A>C (p.Lys458Gln) c.1148A>C c.3274A>C (p.Lys1092Gln) c.850A>C (p.Lys284Gln) n.850A>C c.3316A>C (p.Lys1106Gln) c.3285+489A>C (n.3285+489A>C) c.3088A>C (p.Lys1030Gln) c.3076A>C (p.Lys1026Gln) c.3049A>C (p.Lys1017Gln) n.3627A>C n.3629A>C c.3397A>C (p.Lys1133Gln) c.3375+489A>C (n.3375+489A>C) c.3166A>C (p.Lys1056Gln) n.3412A>C | |
| 11 | g.77183089A>G | CA381945463 | MYO7A | c.3307A>G (p.Lys1103Glu) c.1372A>G (p.Lys458Glu) c.1148A>G c.3274A>G (p.Lys1092Glu) c.850A>G (p.Lys284Glu) n.850A>G c.3316A>G (p.Lys1106Glu) c.3285+489A>G (n.3285+489A>G) c.3088A>G (p.Lys1030Glu) c.3076A>G (p.Lys1026Glu) c.3049A>G (p.Lys1017Glu) n.3627A>G n.3629A>G c.3397A>G (p.Lys1133Glu) c.3375+489A>G (n.3375+489A>G) c.3166A>G (p.Lys1056Glu) n.3412A>G | |
| 11 | g.77183089A>T | CA381945466 | MYO7A | c.3307A>T (p.Lys1103Ter) c.1372A>T (p.Lys458Ter) c.1148A>T c.3274A>T (p.Lys1092Ter) c.850A>T (p.Lys284Ter) n.850A>T c.3316A>T (p.Lys1106Ter) c.3285+489A>T (n.3285+489A>T) c.3088A>T (p.Lys1030Ter) c.3076A>T (p.Lys1026Ter) c.3049A>T (p.Lys1017Ter) n.3627A>T n.3629A>T c.3397A>T (p.Lys1133Ter) c.3375+489A>T (n.3375+489A>T) c.3166A>T (p.Lys1056Ter) n.3412A>T | |
| 11 | g.77183090A>C | CA381945468 | MYO7A | c.3308A>C (p.Lys1103Thr) c.1373A>C (p.Lys458Thr) c.1149A>C c.3275A>C (p.Lys1092Thr) c.851A>C (p.Lys284Thr) n.851A>C c.3317A>C (p.Lys1106Thr) c.3285+490A>C (n.3285+490A>C) c.3089A>C (p.Lys1030Thr) c.3077A>C (p.Lys1026Thr) c.3050A>C (p.Lys1017Thr) n.3628A>C n.3630A>C c.3398A>C (p.Lys1133Thr) c.3375+490A>C (n.3375+490A>C) c.3167A>C (p.Lys1056Thr) n.3413A>C | gnomAD v4 |
| 11 | g.77183090A>G | CA381945474 | MYO7A | c.3308A>G (p.Lys1103Arg) c.1373A>G (p.Lys458Arg) c.1149A>G c.3275A>G (p.Lys1092Arg) c.851A>G (p.Lys284Arg) n.851A>G c.3317A>G (p.Lys1106Arg) c.3285+490A>G (n.3285+490A>G) c.3089A>G (p.Lys1030Arg) c.3077A>G (p.Lys1026Arg) c.3050A>G (p.Lys1017Arg) n.3628A>G n.3630A>G c.3398A>G (p.Lys1133Arg) c.3375+490A>G (n.3375+490A>G) c.3167A>G (p.Lys1056Arg) n.3413A>G | gnomAD v4 |
| 11 | g.77183090A>T | CA381945477 | MYO7A | c.3308A>T (p.Lys1103Met) c.1373A>T (p.Lys458Met) c.1149A>T c.3275A>T (p.Lys1092Met) c.851A>T (p.Lys284Met) n.851A>T c.3317A>T (p.Lys1106Met) c.3285+490A>T (n.3285+490A>T) c.3089A>T (p.Lys1030Met) c.3077A>T (p.Lys1026Met) c.3050A>T (p.Lys1017Met) n.3628A>T n.3630A>T c.3398A>T (p.Lys1133Met) c.3375+490A>T (n.3375+490A>T) c.3167A>T (p.Lys1056Met) n.3413A>T | gnomAD v4 |
| 11 | g.77183091G>A | CA475795776 | MYO7A | c.3309G>A (p.Lys1103=) c.1374G>A (p.Lys458=) c.1150G>A c.3276G>A (p.Lys1092=) c.852G>A (p.Lys284=) n.852G>A c.3318G>A (p.Lys1106=) c.3285+491G>A (n.3285+491G>A) c.3090G>A (p.Lys1030=) c.3078G>A (p.Lys1026=) c.3051G>A (p.Lys1017=) n.3629G>A n.3631G>A c.3399G>A (p.Lys1133=) c.3375+491G>A (n.3375+491G>A) c.3168G>A (p.Lys1056=) n.3414G>A | |
| 11 | g.77183091G>C | CA381945481 | MYO7A | c.3309G>C (p.Lys1103Asn) c.1374G>C (p.Lys458Asn) c.1150G>C c.3276G>C (p.Lys1092Asn) c.852G>C (p.Lys284Asn) n.852G>C c.3318G>C (p.Lys1106Asn) c.3285+491G>C (n.3285+491G>C) c.3090G>C (p.Lys1030Asn) c.3078G>C (p.Lys1026Asn) c.3051G>C (p.Lys1017Asn) n.3629G>C n.3631G>C c.3399G>C (p.Lys1133Asn) c.3375+491G>C (n.3375+491G>C) c.3168G>C (p.Lys1056Asn) n.3414G>C | |
| 11 | g.77183091G>T | CA381945483 | MYO7A | c.3309G>T (p.Lys1103Asn) c.1374G>T (p.Lys458Asn) c.1150G>T c.3276G>T (p.Lys1092Asn) c.852G>T (p.Lys284Asn) n.852G>T c.3318G>T (p.Lys1106Asn) c.3285+491G>T (n.3285+491G>T) c.3090G>T (p.Lys1030Asn) c.3078G>T (p.Lys1026Asn) c.3051G>T (p.Lys1017Asn) n.3629G>T n.3631G>T c.3399G>T (p.Lys1133Asn) c.3375+491G>T (n.3375+491G>T) c.3168G>T (p.Lys1056Asn) n.3414G>T | |
| 11 | g.77183092A= | CA1984114954 | MYO7A | c.3310A= (p.Lys1104=) c.1375A= (p.Lys459=) c.1151A= c.3277A= (p.Lys1093=) c.853A= (p.Lys285=) n.853A= c.3319A= (p.Lys1107=) c.3285+492A= (n.3285+492A=) c.3091A= (p.Lys1031=) c.3079A= (p.Lys1027=) c.3052A= (p.Lys1018=) n.3630A= n.3632A= c.3400A= (p.Lys1134=) c.3375+492A= (n.3375+492A=) c.3169A= (p.Lys1057=) n.3415A= | |
| 11 | g.77183092A>C | CA381945486 | MYO7A | c.3310A>C (p.Lys1104Gln) c.1375A>C (p.Lys459Gln) c.1151A>C c.3277A>C (p.Lys1093Gln) c.853A>C (p.Lys285Gln) n.853A>C c.3319A>C (p.Lys1107Gln) c.3285+492A>C (n.3285+492A>C) c.3091A>C (p.Lys1031Gln) c.3079A>C (p.Lys1027Gln) c.3052A>C (p.Lys1018Gln) n.3630A>C n.3632A>C c.3400A>C (p.Lys1134Gln) c.3375+492A>C (n.3375+492A>C) c.3169A>C (p.Lys1057Gln) n.3415A>C | |
| 11 | g.77183092A>G | CA381945487 | MYO7A | c.3310A>G (p.Lys1104Glu) c.1375A>G (p.Lys459Glu) c.1151A>G c.3277A>G (p.Lys1093Glu) c.853A>G (p.Lys285Glu) n.853A>G c.3319A>G (p.Lys1107Glu) c.3285+492A>G (n.3285+492A>G) c.3091A>G (p.Lys1031Glu) c.3079A>G (p.Lys1027Glu) c.3052A>G (p.Lys1018Glu) n.3630A>G n.3632A>G c.3400A>G (p.Lys1134Glu) c.3375+492A>G (n.3375+492A>G) c.3169A>G (p.Lys1057Glu) n.3415A>G | gnomAD v4 |
| 11 | g.77183092A>T | CA381945489 | MYO7A | c.3310A>T (p.Lys1104Ter) c.1375A>T (p.Lys459Ter) c.1151A>T c.3277A>T (p.Lys1093Ter) c.853A>T (p.Lys285Ter) n.853A>T c.3319A>T (p.Lys1107Ter) c.3285+492A>T (n.3285+492A>T) c.3091A>T (p.Lys1031Ter) c.3079A>T (p.Lys1027Ter) c.3052A>T (p.Lys1018Ter) n.3630A>T n.3632A>T c.3400A>T (p.Lys1134Ter) c.3375+492A>T (n.3375+492A>T) c.3169A>T (p.Lys1057Ter) n.3415A>T | ClinVar dbSNP |
| 11 | g.77183093A= | CA1984114956 | MYO7A | c.3311A= (p.Lys1104=) c.1376A= (p.Lys459=) c.1152A= c.3278A= (p.Lys1093=) c.854A= (p.Lys285=) n.854A= c.3320A= (p.Lys1107=) c.3285+493A= (n.3285+493A=) c.3092A= (p.Lys1031=) c.3080A= (p.Lys1027=) c.3053A= (p.Lys1018=) n.3631A= n.3633A= c.3401A= (p.Lys1134=) c.3375+493A= (n.3375+493A=) c.3170A= (p.Lys1057=) n.3416A= | |
| 11 | g.77183093A>C | CA381945493 | MYO7A | c.3311A>C (p.Lys1104Thr) c.1376A>C (p.Lys459Thr) c.1152A>C c.3278A>C (p.Lys1093Thr) c.854A>C (p.Lys285Thr) n.854A>C c.3320A>C (p.Lys1107Thr) c.3285+493A>C (n.3285+493A>C) c.3092A>C (p.Lys1031Thr) c.3080A>C (p.Lys1027Thr) c.3053A>C (p.Lys1018Thr) n.3631A>C n.3633A>C c.3401A>C (p.Lys1134Thr) c.3375+493A>C (n.3375+493A>C) c.3170A>C (p.Lys1057Thr) n.3416A>C |