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.77182133_77182136delinsTGAC | CA1984113528 | MYO7A | c.3087_3090delinsTGAC (p.His1029=) c.1152_1155delinsTGAC (p.His384=) c.928_931delinsTGAC c.3054_3057delinsTGAC (p.His1018=) c.630_633delinsTGAC (p.His210=) n.630_633delinsTGAC c.2868_2871delinsTGAC (p.His956=) c.2856_2859delinsTGAC (p.His952=) c.2829_2832delinsTGAC (p.His943=) n.3407_3410delinsTGAC n.3409_3412delinsTGAC c.3177_3180delinsTGAC (p.His1059=) c.2946_2949delinsTGAC (p.His982=) n.3192_3195delinsTGAC | |
| 11 | g.77182139_77182141del | CA918918632 | MYO7A | c.3093_3095del (p.Asp1031del) c.1158_1160del (p.Asp386del) c.934_936del c.3060_3062del (p.Asp1020del) c.636_638del (p.Asp212del) n.636_638del c.2874_2876del (p.Asp958del) c.2862_2864del (p.Asp954del) c.2835_2837del (p.Asp945del) n.3413_3415del n.3415_3417del c.3183_3185del (p.Asp1061del) c.2952_2954del (p.Asp984del) n.3198_3200del | dbSNP |
| 11 | g.77182136C>A | CA381944308 | MYO7A | c.3090C>A (p.Asp1030Glu) c.1155C>A (p.Asp385Glu) c.931C>A c.3057C>A (p.Asp1019Glu) c.633C>A (p.Asp211Glu) n.633C>A c.2871C>A (p.Asp957Glu) c.2859C>A (p.Asp953Glu) c.2832C>A (p.Asp944Glu) n.3410C>A n.3412C>A c.3180C>A (p.Asp1060Glu) c.2949C>A (p.Asp983Glu) n.3195C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77182136C= | CA1984113540 | MYO7A | c.3090C= (p.Asp1030=) c.1155C= (p.Asp385=) c.931C= c.3057C= (p.Asp1019=) c.633C= (p.Asp211=) n.633C= c.2871C= (p.Asp957=) c.2859C= (p.Asp953=) c.2832C= (p.Asp944=) n.3410C= n.3412C= c.3180C= (p.Asp1060=) c.2949C= (p.Asp983=) n.3195C= | |
| 11 | g.77182136C>G | CA381944310 | MYO7A | c.3090C>G (p.Asp1030Glu) c.1155C>G (p.Asp385Glu) c.931C>G c.3057C>G (p.Asp1019Glu) c.633C>G (p.Asp211Glu) n.633C>G c.2871C>G (p.Asp957Glu) c.2859C>G (p.Asp953Glu) c.2832C>G (p.Asp944Glu) n.3410C>G n.3412C>G c.3180C>G (p.Asp1060Glu) c.2949C>G (p.Asp983Glu) n.3195C>G | gnomAD v4 |
| 11 | g.77182136C>T | CA224841793 | MYO7A | c.3090C>T (p.Asp1030=) c.1155C>T (p.Asp385=) c.931C>T c.3057C>T (p.Asp1019=) c.633C>T (p.Asp211=) n.633C>T c.2871C>T (p.Asp957=) c.2859C>T (p.Asp953=) c.2832C>T (p.Asp944=) n.3410C>T n.3412C>T c.3180C>T (p.Asp1060=) c.2949C>T (p.Asp983=) n.3195C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182136_77182137insACT | CA2792786521 | MYO7A | c.3090_3091insACT (p.Asp1030_Asp1031insThr) c.1155_1156insACT (p.Asp385_Asp386insThr) c.931_932insACT c.3057_3058insACT (p.Asp1019_Asp1020insThr) c.633_634insACT (p.Asp211_Asp212insThr) n.633_634insACT c.2871_2872insACT (p.Asp957_Asp958insThr) c.2859_2860insACT (p.Asp953_Asp954insThr) c.2832_2833insACT (p.Asp944_Asp945insThr) n.3410_3411insACT n.3412_3413insACT c.3180_3181insACT (p.Asp1060_Asp1061insThr) c.2949_2950insACT (p.Asp983_Asp984insThr) n.3195_3196insACT | |
| 11 | g.77182137G>A | CA224841796 | MYO7A | c.3091G>A (p.Asp1031Asn) c.1156G>A (p.Asp386Asn) c.932G>A c.3058G>A (p.Asp1020Asn) c.634G>A (p.Asp212Asn) n.634G>A c.2872G>A (p.Asp958Asn) c.2860G>A (p.Asp954Asn) c.2833G>A (p.Asp945Asn) n.3411G>A n.3413G>A c.3181G>A (p.Asp1061Asn) c.2950G>A (p.Asp984Asn) n.3196G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77182137G>C | CA381944316 | MYO7A | c.3091G>C (p.Asp1031His) c.1156G>C (p.Asp386His) c.932G>C c.3058G>C (p.Asp1020His) c.634G>C (p.Asp212His) n.634G>C c.2872G>C (p.Asp958His) c.2860G>C (p.Asp954His) c.2833G>C (p.Asp945His) n.3411G>C n.3413G>C c.3181G>C (p.Asp1061His) c.2950G>C (p.Asp984His) n.3196G>C | |
| 11 | g.77182137G= | CA1984113546 | MYO7A | c.3091G= (p.Asp1031=) c.1156G= (p.Asp386=) c.932G= c.3058G= (p.Asp1020=) c.634G= (p.Asp212=) n.634G= c.2872G= (p.Asp958=) c.2860G= (p.Asp954=) c.2833G= (p.Asp945=) n.3411G= n.3413G= c.3181G= (p.Asp1061=) c.2950G= (p.Asp984=) n.3196G= | |
| 11 | g.77182137G>T | CA381944314 | MYO7A | c.3091G>T (p.Asp1031Tyr) c.1156G>T (p.Asp386Tyr) c.932G>T c.3058G>T (p.Asp1020Tyr) c.634G>T (p.Asp212Tyr) n.634G>T c.2872G>T (p.Asp958Tyr) c.2860G>T (p.Asp954Tyr) c.2833G>T (p.Asp945Tyr) n.3411G>T n.3413G>T c.3181G>T (p.Asp1061Tyr) c.2950G>T (p.Asp984Tyr) n.3196G>T | |
| 11 | g.77182138A>C | CA381944318 | MYO7A | c.3092A>C (p.Asp1031Ala) c.1157A>C (p.Asp386Ala) c.933A>C c.3059A>C (p.Asp1020Ala) c.635A>C (p.Asp212Ala) n.635A>C c.2873A>C (p.Asp958Ala) c.2861A>C (p.Asp954Ala) c.2834A>C (p.Asp945Ala) n.3412A>C n.3414A>C c.3182A>C (p.Asp1061Ala) c.2951A>C (p.Asp984Ala) n.3197A>C | |
| 11 | g.77182138A>G | CA381944320 | MYO7A | c.3092A>G (p.Asp1031Gly) c.1157A>G (p.Asp386Gly) c.933A>G c.3059A>G (p.Asp1020Gly) c.635A>G (p.Asp212Gly) n.635A>G c.2873A>G (p.Asp958Gly) c.2861A>G (p.Asp954Gly) c.2834A>G (p.Asp945Gly) n.3412A>G n.3414A>G c.3182A>G (p.Asp1061Gly) c.2951A>G (p.Asp984Gly) n.3197A>G | |
| 11 | g.77182138A>T | CA381944321 | MYO7A | c.3092A>T (p.Asp1031Val) c.1157A>T (p.Asp386Val) c.933A>T c.3059A>T (p.Asp1020Val) c.635A>T (p.Asp212Val) n.635A>T c.2873A>T (p.Asp958Val) c.2861A>T (p.Asp954Val) c.2834A>T (p.Asp945Val) n.3412A>T n.3414A>T c.3182A>T (p.Asp1061Val) c.2951A>T (p.Asp984Val) n.3197A>T | |
| 11 | g.77182139C>A | CA381944323 | MYO7A | c.3093C>A (p.Asp1031Glu) c.1158C>A (p.Asp386Glu) c.934C>A c.3060C>A (p.Asp1020Glu) c.636C>A (p.Asp212Glu) n.636C>A c.2874C>A (p.Asp958Glu) c.2862C>A (p.Asp954Glu) c.2835C>A (p.Asp945Glu) n.3413C>A n.3415C>A c.3183C>A (p.Asp1061Glu) c.2952C>A (p.Asp984Glu) n.3198C>A | |
| 11 | g.77182139C= | CA1984113549 | MYO7A | c.3093C= (p.Asp1031=) c.1158C= (p.Asp386=) c.934C= c.3060C= (p.Asp1020=) c.636C= (p.Asp212=) n.636C= c.2874C= (p.Asp958=) c.2862C= (p.Asp954=) c.2835C= (p.Asp945=) n.3413C= n.3415C= c.3183C= (p.Asp1061=) c.2952C= (p.Asp984=) n.3198C= | |
| 11 | g.77182139C>G | CA381944325 | MYO7A | c.3093C>G (p.Asp1031Glu) c.1158C>G (p.Asp386Glu) c.934C>G c.3060C>G (p.Asp1020Glu) c.636C>G (p.Asp212Glu) n.636C>G c.2874C>G (p.Asp958Glu) c.2862C>G (p.Asp954Glu) c.2835C>G (p.Asp945Glu) n.3413C>G n.3415C>G c.3183C>G (p.Asp1061Glu) c.2952C>G (p.Asp984Glu) n.3198C>G | |
| 11 | g.77182139C>T | CA224841799 | MYO7A | c.3093C>T (p.Asp1031=) c.1158C>T (p.Asp386=) c.934C>T c.3060C>T (p.Asp1020=) c.636C>T (p.Asp212=) n.636C>T c.2874C>T (p.Asp958=) c.2862C>T (p.Asp954=) c.2835C>T (p.Asp945=) n.3413C>T n.3415C>T c.3183C>T (p.Asp1061=) c.2952C>T (p.Asp984=) n.3198C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77182140G>A | CA381944328 | MYO7A | c.3094G>A (p.Glu1032Lys) c.1159G>A (p.Glu387Lys) c.935G>A c.3061G>A (p.Glu1021Lys) c.637G>A (p.Glu213Lys) n.637G>A c.2875G>A (p.Glu959Lys) c.2863G>A (p.Glu955Lys) c.2836G>A (p.Glu946Lys) n.3414G>A n.3416G>A c.3184G>A (p.Glu1062Lys) c.2953G>A (p.Glu985Lys) n.3199G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182140G>C | CA381944330 | MYO7A | c.3094G>C (p.Glu1032Gln) c.1159G>C (p.Glu387Gln) c.935G>C c.3061G>C (p.Glu1021Gln) c.637G>C (p.Glu213Gln) n.637G>C c.2875G>C (p.Glu959Gln) c.2863G>C (p.Glu955Gln) c.2836G>C (p.Glu946Gln) n.3414G>C n.3416G>C c.3184G>C (p.Glu1062Gln) c.2953G>C (p.Glu985Gln) n.3199G>C | |
| 11 | g.77182140G= | CA1984113554 | MYO7A | c.3094G= (p.Glu1032=) c.1159G= (p.Glu387=) c.935G= c.3061G= (p.Glu1021=) c.637G= (p.Glu213=) n.637G= c.2875G= (p.Glu959=) c.2863G= (p.Glu955=) c.2836G= (p.Glu946=) n.3414G= n.3416G= c.3184G= (p.Glu1062=) c.2953G= (p.Glu985=) n.3199G= | |
| 11 | g.77182140G>T | CA381944332 | MYO7A | c.3094G>T (p.Glu1032Ter) c.1159G>T (p.Glu387Ter) c.935G>T c.3061G>T (p.Glu1021Ter) c.637G>T (p.Glu213Ter) n.637G>T c.2875G>T (p.Glu959Ter) c.2863G>T (p.Glu955Ter) c.2836G>T (p.Glu946Ter) n.3414G>T n.3416G>T c.3184G>T (p.Glu1062Ter) c.2953G>T (p.Glu985Ter) n.3199G>T | gnomAD v4 |
| 11 | g.77182141A>C | CA381944334 | MYO7A | c.3095A>C (p.Glu1032Ala) c.1160A>C (p.Glu387Ala) c.936A>C c.3062A>C (p.Glu1021Ala) c.638A>C (p.Glu213Ala) n.638A>C c.2876A>C (p.Glu959Ala) c.2864A>C (p.Glu955Ala) c.2837A>C (p.Glu946Ala) n.3415A>C n.3417A>C c.3185A>C (p.Glu1062Ala) c.2954A>C (p.Glu985Ala) n.3200A>C | |
| 11 | g.77182141A>G | CA381944336 | MYO7A | c.3095A>G (p.Glu1032Gly) c.1160A>G (p.Glu387Gly) c.936A>G c.3062A>G (p.Glu1021Gly) c.638A>G (p.Glu213Gly) n.638A>G c.2876A>G (p.Glu959Gly) c.2864A>G (p.Glu955Gly) c.2837A>G (p.Glu946Gly) n.3415A>G n.3417A>G c.3185A>G (p.Glu1062Gly) c.2954A>G (p.Glu985Gly) n.3200A>G | |
| 11 | g.77182141A>T | CA381944338 | MYO7A | c.3095A>T (p.Glu1032Val) c.1160A>T (p.Glu387Val) c.936A>T c.3062A>T (p.Glu1021Val) c.638A>T (p.Glu213Val) n.638A>T c.2876A>T (p.Glu959Val) c.2864A>T (p.Glu955Val) c.2837A>T (p.Glu946Val) n.3415A>T n.3417A>T c.3185A>T (p.Glu1062Val) c.2954A>T (p.Glu985Val) n.3200A>T | |
| 11 | g.77182142G>A | CA2574931389 | MYO7A | c.3096G>A (p.Glu1032=) c.1161G>A (p.Glu387=) c.937G>A c.3063G>A (p.Glu1021=) c.639G>A (p.Glu213=) n.639G>A c.2877G>A (p.Glu959=) c.2865G>A (p.Glu955=) c.2838G>A (p.Glu946=) n.3416G>A n.3418G>A c.3186G>A (p.Glu1062=) c.2955G>A (p.Glu985=) n.3201G>A | |
| 11 | g.77182142G>C | CA381944340 | MYO7A | c.3096G>C (p.Glu1032Asp) c.1161G>C (p.Glu387Asp) c.937G>C c.3063G>C (p.Glu1021Asp) c.639G>C (p.Glu213Asp) n.639G>C c.2877G>C (p.Glu959Asp) c.2865G>C (p.Glu955Asp) c.2838G>C (p.Glu946Asp) n.3416G>C n.3418G>C c.3186G>C (p.Glu1062Asp) c.2955G>C (p.Glu985Asp) n.3201G>C | |
| 11 | g.77182142G>T | CA381944342 | MYO7A | c.3096G>T (p.Glu1032Asp) c.1161G>T (p.Glu387Asp) c.937G>T c.3063G>T (p.Glu1021Asp) c.639G>T (p.Glu213Asp) n.639G>T c.2877G>T (p.Glu959Asp) c.2865G>T (p.Glu955Asp) c.2838G>T (p.Glu946Asp) n.3416G>T n.3418G>T c.3186G>T (p.Glu1062Asp) c.2955G>T (p.Glu985Asp) n.3201G>T | |
| 11 | g.77182144dup | CA2580084978 | MYO7A | c.3098dup (p.Asp1034Ter) c.1163dup (p.Asp389Ter) c.939dup c.3065dup (p.Asp1023Ter) c.641dup (p.Asp215Ter) n.641dup c.2879dup (p.Asp961Ter) c.2867dup (p.Asp957Ter) c.2840dup (p.Asp948Ter) n.3418dup n.3420dup c.3188dup (p.Asp1064Ter) c.2957dup (p.Asp987Ter) n.3203dup | ClinVar gnomAD v4 |
| 11 | g.77182143G>A | CA381944348 | MYO7A | c.3097G>A (p.Gly1033Ser) c.1162G>A (p.Gly388Ser) c.938G>A c.3064G>A (p.Gly1022Ser) c.640G>A (p.Gly214Ser) n.640G>A c.2878G>A (p.Gly960Ser) c.2866G>A (p.Gly956Ser) c.2839G>A (p.Gly947Ser) n.3417G>A n.3419G>A c.3187G>A (p.Gly1063Ser) c.2956G>A (p.Gly986Ser) n.3202G>A | |
| 11 | g.77182143G>C | CA381944349 | MYO7A | c.3097G>C (p.Gly1033Arg) c.1162G>C (p.Gly388Arg) c.938G>C c.3064G>C (p.Gly1022Arg) c.640G>C (p.Gly214Arg) n.640G>C c.2878G>C (p.Gly960Arg) c.2866G>C (p.Gly956Arg) c.2839G>C (p.Gly947Arg) n.3417G>C n.3419G>C c.3187G>C (p.Gly1063Arg) c.2956G>C (p.Gly986Arg) n.3202G>C | |
| 11 | g.77182143G>T | CA381944345 | MYO7A | c.3097G>T (p.Gly1033Cys) c.1162G>T (p.Gly388Cys) c.938G>T c.3064G>T (p.Gly1022Cys) c.640G>T (p.Gly214Cys) n.640G>T c.2878G>T (p.Gly960Cys) c.2866G>T (p.Gly956Cys) c.2839G>T (p.Gly947Cys) n.3417G>T n.3419G>T c.3187G>T (p.Gly1063Cys) c.2956G>T (p.Gly986Cys) n.3202G>T | |
| 11 | g.77182144G>A | CA224841802 | MYO7A | c.3098G>A (p.Gly1033Asp) c.1163G>A (p.Gly388Asp) c.939G>A c.3065G>A (p.Gly1022Asp) c.641G>A (p.Gly214Asp) n.641G>A c.2879G>A (p.Gly960Asp) c.2867G>A (p.Gly956Asp) c.2840G>A (p.Gly947Asp) n.3418G>A n.3420G>A c.3188G>A (p.Gly1063Asp) c.2957G>A (p.Gly986Asp) n.3203G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182144G>C | CA381944350 | MYO7A | c.3098G>C (p.Gly1033Ala) c.1163G>C (p.Gly388Ala) c.939G>C c.3065G>C (p.Gly1022Ala) c.641G>C (p.Gly214Ala) n.641G>C c.2879G>C (p.Gly960Ala) c.2867G>C (p.Gly956Ala) c.2840G>C (p.Gly947Ala) n.3418G>C n.3420G>C c.3188G>C (p.Gly1063Ala) c.2957G>C (p.Gly986Ala) n.3203G>C | |
| 11 | g.77182144G= | CA1984113555 | MYO7A | c.3098G= (p.Gly1033=) c.1163G= (p.Gly388=) c.939G= c.3065G= (p.Gly1022=) c.641G= (p.Gly214=) n.641G= c.2879G= (p.Gly960=) c.2867G= (p.Gly956=) c.2840G= (p.Gly947=) n.3418G= n.3420G= c.3188G= (p.Gly1063=) c.2957G= (p.Gly986=) n.3203G= | |
| 11 | g.77182144G>T | CA381944353 | MYO7A | c.3098G>T (p.Gly1033Val) c.1163G>T (p.Gly388Val) c.939G>T c.3065G>T (p.Gly1022Val) c.641G>T (p.Gly214Val) n.641G>T c.2879G>T (p.Gly960Val) c.2867G>T (p.Gly956Val) c.2840G>T (p.Gly947Val) n.3418G>T n.3420G>T c.3188G>T (p.Gly1063Val) c.2957G>T (p.Gly986Val) n.3203G>T | |
| 11 | g.77182145T>G | CA2499221321 | MYO7A | c.3099T>G (p.Gly1033=) c.1164T>G (p.Gly388=) c.940T>G c.3066T>G (p.Gly1022=) c.642T>G (p.Gly214=) n.642T>G c.2880T>G (p.Gly960=) c.2868T>G (p.Gly956=) c.2841T>G (p.Gly947=) n.3419T>G n.3421T>G c.3189T>G (p.Gly1063=) c.2958T>G (p.Gly986=) n.3204T>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.77182146G>A | CA381944355 | MYO7A | c.3100G>A (p.Asp1034Asn) c.1165G>A (p.Asp389Asn) c.941G>A c.3067G>A (p.Asp1023Asn) c.643G>A (p.Asp215Asn) n.643G>A c.2881G>A (p.Asp961Asn) c.2869G>A (p.Asp957Asn) c.2842G>A (p.Asp948Asn) n.3420G>A n.3422G>A c.3190G>A (p.Asp1064Asn) c.2959G>A (p.Asp987Asn) n.3205G>A | |
| 11 | g.77182146G>C | CA381944358 | MYO7A | c.3100G>C (p.Asp1034His) c.1165G>C (p.Asp389His) c.941G>C c.3067G>C (p.Asp1023His) c.643G>C (p.Asp215His) n.643G>C c.2881G>C (p.Asp961His) c.2869G>C (p.Asp957His) c.2842G>C (p.Asp948His) n.3420G>C n.3422G>C c.3190G>C (p.Asp1064His) c.2959G>C (p.Asp987His) n.3205G>C | |
| 11 | g.77182146G>T | CA381944356 | MYO7A | c.3100G>T (p.Asp1034Tyr) c.1165G>T (p.Asp389Tyr) c.941G>T c.3067G>T (p.Asp1023Tyr) c.643G>T (p.Asp215Tyr) n.643G>T c.2881G>T (p.Asp961Tyr) c.2869G>T (p.Asp957Tyr) c.2842G>T (p.Asp948Tyr) n.3420G>T n.3422G>T c.3190G>T (p.Asp1064Tyr) c.2959G>T (p.Asp987Tyr) n.3205G>T | |
| 11 | g.77182147A>C | CA381944360 | MYO7A | c.3101A>C (p.Asp1034Ala) c.1166A>C (p.Asp389Ala) c.942A>C c.3068A>C (p.Asp1023Ala) c.644A>C (p.Asp215Ala) n.644A>C c.2882A>C (p.Asp961Ala) c.2870A>C (p.Asp957Ala) c.2843A>C (p.Asp948Ala) n.3421A>C n.3423A>C c.3191A>C (p.Asp1064Ala) c.2960A>C (p.Asp987Ala) n.3206A>C | |
| 11 | g.77182147A>G | CA381944363 | MYO7A | c.3101A>G (p.Asp1034Gly) c.1166A>G (p.Asp389Gly) c.942A>G c.3068A>G (p.Asp1023Gly) c.644A>G (p.Asp215Gly) n.644A>G c.2882A>G (p.Asp961Gly) c.2870A>G (p.Asp957Gly) c.2843A>G (p.Asp948Gly) n.3421A>G n.3423A>G c.3191A>G (p.Asp1064Gly) c.2960A>G (p.Asp987Gly) n.3206A>G | |
| 11 | g.77182147A>T | CA381944362 | MYO7A | c.3101A>T (p.Asp1034Val) c.1166A>T (p.Asp389Val) c.942A>T c.3068A>T (p.Asp1023Val) c.644A>T (p.Asp215Val) n.644A>T c.2882A>T (p.Asp961Val) c.2870A>T (p.Asp957Val) c.2843A>T (p.Asp948Val) n.3421A>T n.3423A>T c.3191A>T (p.Asp1064Val) c.2960A>T (p.Asp987Val) n.3206A>T | |
| 11 | g.77182148C>A | CA381944364 | MYO7A | c.3102C>A (p.Asp1034Glu) c.1167C>A (p.Asp389Glu) c.943C>A c.3069C>A (p.Asp1023Glu) c.645C>A (p.Asp215Glu) n.645C>A c.2883C>A (p.Asp961Glu) c.2871C>A (p.Asp957Glu) c.2844C>A (p.Asp948Glu) n.3422C>A n.3424C>A c.3192C>A (p.Asp1064Glu) c.2961C>A (p.Asp987Glu) n.3207C>A | |
| 11 | g.77182148C>G | CA381944366 | MYO7A | c.3102C>G (p.Asp1034Glu) c.1167C>G (p.Asp389Glu) c.943C>G c.3069C>G (p.Asp1023Glu) c.645C>G (p.Asp215Glu) n.645C>G c.2883C>G (p.Asp961Glu) c.2871C>G (p.Asp957Glu) c.2844C>G (p.Asp948Glu) n.3422C>G n.3424C>G c.3192C>G (p.Asp1064Glu) c.2961C>G (p.Asp987Glu) n.3207C>G | |
| 11 | g.77182149C>A | CA381944368 | MYO7A | c.3103C>A (p.Gln1035Lys) c.1168C>A (p.Gln390Lys) c.944C>A c.3070C>A (p.Gln1024Lys) c.646C>A (p.Gln216Lys) n.646C>A c.2884C>A (p.Gln962Lys) c.2872C>A (p.Gln958Lys) c.2845C>A (p.Gln949Lys) n.3423C>A n.3425C>A c.3193C>A (p.Gln1065Lys) c.2962C>A (p.Gln988Lys) n.3208C>A | |
| 11 | g.77182149C>G | CA381944370 | MYO7A | c.3103C>G (p.Gln1035Glu) c.1168C>G (p.Gln390Glu) c.944C>G c.3070C>G (p.Gln1024Glu) c.646C>G (p.Gln216Glu) n.646C>G c.2884C>G (p.Gln962Glu) c.2872C>G (p.Gln958Glu) c.2845C>G (p.Gln949Glu) n.3423C>G n.3425C>G c.3193C>G (p.Gln1065Glu) c.2962C>G (p.Gln988Glu) n.3208C>G | |
| 11 | g.77182149C>T | CA381944372 | MYO7A | c.3103C>T (p.Gln1035Ter) c.1168C>T (p.Gln390Ter) c.944C>T c.3070C>T (p.Gln1024Ter) c.646C>T (p.Gln216Ter) n.646C>T c.2884C>T (p.Gln962Ter) c.2872C>T (p.Gln958Ter) c.2845C>T (p.Gln949Ter) n.3423C>T n.3425C>T c.3193C>T (p.Gln1065Ter) c.2962C>T (p.Gln988Ter) n.3208C>T | gnomAD v4 |
| 11 | g.77182150A>C | CA381944374 | MYO7A | c.3104A>C (p.Gln1035Pro) c.1169A>C (p.Gln390Pro) c.945A>C c.3071A>C (p.Gln1024Pro) c.647A>C (p.Gln216Pro) n.647A>C c.2885A>C (p.Gln962Pro) c.2873A>C (p.Gln958Pro) c.2846A>C (p.Gln949Pro) n.3424A>C n.3426A>C c.3194A>C (p.Gln1065Pro) c.2963A>C (p.Gln988Pro) n.3209A>C | |
| 11 | g.77182150A>G | CA381944376 | MYO7A | c.3104A>G (p.Gln1035Arg) c.1169A>G (p.Gln390Arg) c.945A>G c.3071A>G (p.Gln1024Arg) c.647A>G (p.Gln216Arg) n.647A>G c.2885A>G (p.Gln962Arg) c.2873A>G (p.Gln958Arg) c.2846A>G (p.Gln949Arg) n.3424A>G n.3426A>G c.3194A>G (p.Gln1065Arg) c.2963A>G (p.Gln988Arg) n.3209A>G |