Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49217755_49221080del | CA916084263 | CACNA1F | c.2290_3089+1del c.2128_2927+1del c.2323_3122+1del | |
X | g.49217913C>A | CA516377407 | CACNA1F | c.3021G>T (p.Gly1007=) c.2859G>T (p.Gly953=) c.3054G>T (p.Gly1018=) c.288G>T (p.Gly96=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49217913C= | CA2428540218 | CACNA1F | c.3021G= (p.Gly1007=) c.2859G= (p.Gly953=) c.3054G= (p.Gly1018=) c.288G= (p.Gly96=) | |
X | g.49217913C>G | CA516377408 | CACNA1F | c.3021G>C (p.Gly1007=) c.2859G>C (p.Gly953=) c.3054G>C (p.Gly1018=) c.288G>C (p.Gly96=) | |
X | g.49217913C>T | CA516377409 | CACNA1F | c.3021G>A (p.Gly1007=) c.2859G>A (p.Gly953=) c.3054G>A (p.Gly1018=) c.288G>A (p.Gly96=) | |
X | g.49217914C>A | CA412964353 | CACNA1F | c.3020G>T (p.Gly1007Val) c.2858G>T (p.Gly953Val) c.3053G>T (p.Gly1018Val) c.287G>T (p.Gly96Val) | COSMIC |
X | g.49217914C= | CA2428540219 | CACNA1F | c.3020G= (p.Gly1007=) c.2858G= (p.Gly953=) c.3053G= (p.Gly1018=) c.287G= (p.Gly96=) | |
X | g.49217914C>G | CA412964354 | CACNA1F | c.3020G>C (p.Gly1007Ala) c.2858G>C (p.Gly953Ala) c.3053G>C (p.Gly1018Ala) c.287G>C (p.Gly96Ala) | |
X | g.49217914C>T | CA16621427 | CACNA1F | c.3020G>A (p.Gly1007Glu) c.2858G>A (p.Gly953Glu) c.3053G>A (p.Gly1018Glu) c.287G>A (p.Gly96Glu) | ClinVar dbSNP |
X | g.49217915C>A | CA412964357 | CACNA1F | c.3019G>T (p.Gly1007Trp) c.2857G>T (p.Gly953Trp) c.3052G>T (p.Gly1018Trp) c.286G>T (p.Gly96Trp) | |
X | g.49217915C= | CA2428540220 | CACNA1F | c.3019G= (p.Gly1007=) c.2857G= (p.Gly953=) c.3052G= (p.Gly1018=) c.286G= (p.Gly96=) | |
X | g.49217915C>G | CA412964356 | CACNA1F | c.3019G>C (p.Gly1007Arg) c.2857G>C (p.Gly953Arg) c.3052G>C (p.Gly1018Arg) c.286G>C (p.Gly96Arg) | |
X | g.49217915C>T | CA412964355 | CACNA1F | c.3019G>A (p.Gly1007Arg) c.2857G>A (p.Gly953Arg) c.3052G>A (p.Gly1018Arg) c.286G>A (p.Gly96Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.49217916G>A | CA516377410 | CACNA1F | c.3018C>T (p.Ile1006=) c.2856C>T (p.Ile952=) c.3051C>T (p.Ile1017=) c.285C>T (p.Ile95=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49217916G>C | CA412964358 | CACNA1F | c.3018C>G (p.Ile1006Met) c.2856C>G (p.Ile952Met) c.3051C>G (p.Ile1017Met) c.285C>G (p.Ile95Met) | |
X | g.49217916G= | CA2428540221 | CACNA1F | c.3018C= (p.Ile1006=) c.2856C= (p.Ile952=) c.3051C= (p.Ile1017=) c.285C= (p.Ile95=) | |
X | g.49217916G>T | CA516377411 | CACNA1F | c.3018C>A (p.Ile1006=) c.2856C>A (p.Ile952=) c.3051C>A (p.Ile1017=) c.285C>A (p.Ile95=) | gnomAD v4 |
X | g.49217917A>C | CA412964359 | CACNA1F | c.3017T>G (p.Ile1006Ser) c.2855T>G (p.Ile952Ser) c.3050T>G (p.Ile1017Ser) c.284T>G (p.Ile95Ser) | |
X | g.49217917A>G | CA412964360 | CACNA1F | c.3017T>C (p.Ile1006Thr) c.2855T>C (p.Ile952Thr) c.3050T>C (p.Ile1017Thr) c.284T>C (p.Ile95Thr) | |
X | g.49217917A>T | CA412964361 | CACNA1F | c.3017T>A (p.Ile1006Asn) c.2855T>A (p.Ile952Asn) c.3050T>A (p.Ile1017Asn) c.284T>A (p.Ile95Asn) | |
X | g.49217918T>A | CA412964362 | CACNA1F | c.3016A>T (p.Ile1006Phe) c.2854A>T (p.Ile952Phe) c.3049A>T (p.Ile1017Phe) c.283A>T (p.Ile95Phe) | dbSNP |
X | g.49217918T>C | CA329140754 | CACNA1F | c.3016A>G (p.Ile1006Val) c.2854A>G (p.Ile952Val) c.3049A>G (p.Ile1017Val) c.283A>G (p.Ile95Val) | ClinVar dbSNP |
X | g.49217918T>G | CA412964363 | CACNA1F | c.3016A>C (p.Ile1006Leu) c.2854A>C (p.Ile952Leu) c.3049A>C (p.Ile1017Leu) c.283A>C (p.Ile95Leu) | |
X | g.49217918T= | CA2428540222 | CACNA1F | c.3016A= (p.Ile1006=) c.2854A= (p.Ile952=) c.3049A= (p.Ile1017=) c.283A= (p.Ile95=) | |
X | g.49217919G>A | CA516377412 | CACNA1F | c.3015C>T (p.Cys1005=) c.2853C>T (p.Cys951=) c.3048C>T (p.Cys1016=) c.282C>T (p.Cys94=) | |
X | g.49217919G>C | CA412964365 | CACNA1F | c.3015C>G (p.Cys1005Trp) c.2853C>G (p.Cys951Trp) c.3048C>G (p.Cys1016Trp) c.282C>G (p.Cys94Trp) | |
X | g.49217919G>T | CA412964364 | CACNA1F | c.3015C>A (p.Cys1005Ter) c.2853C>A (p.Cys951Ter) c.3048C>A (p.Cys1016Ter) c.282C>A (p.Cys94Ter) | |
X | g.49217920C>A | CA412964366 | CACNA1F | c.3014G>T (p.Cys1005Phe) c.2852G>T (p.Cys951Phe) c.3047G>T (p.Cys1016Phe) c.281G>T (p.Cys94Phe) | |
X | g.49217920C>G | CA412964367 | CACNA1F | c.3014G>C (p.Cys1005Ser) c.2852G>C (p.Cys951Ser) c.3047G>C (p.Cys1016Ser) c.281G>C (p.Cys94Ser) | |
X | g.49217920C>T | CA412964368 | CACNA1F | c.3014G>A (p.Cys1005Tyr) c.2852G>A (p.Cys951Tyr) c.3047G>A (p.Cys1016Tyr) c.281G>A (p.Cys94Tyr) | |
X | g.49217921A>C | CA412964369 | CACNA1F | c.3013T>G (p.Cys1005Gly) c.2851T>G (p.Cys951Gly) c.3046T>G (p.Cys1016Gly) c.280T>G (p.Cys94Gly) | |
X | g.49217921A>G | CA412964370 | CACNA1F | c.3013T>C (p.Cys1005Arg) c.2851T>C (p.Cys951Arg) c.3046T>C (p.Cys1016Arg) c.280T>C (p.Cys94Arg) | |
X | g.49217921A>T | CA412964371 | CACNA1F | c.3013T>A (p.Cys1005Ser) c.2851T>A (p.Cys951Ser) c.3046T>A (p.Cys1016Ser) c.280T>A (p.Cys94Ser) | |
X | g.49217922G>A | CA516377413 | CACNA1F | c.3012C>T (p.Ala1004=) c.2850C>T (p.Ala950=) c.3045C>T (p.Ala1015=) c.279C>T (p.Ala93=) | |
X | g.49217922G>C | CA516377414 | CACNA1F | c.3012C>G (p.Ala1004=) c.2850C>G (p.Ala950=) c.3045C>G (p.Ala1015=) c.279C>G (p.Ala93=) | gnomAD v4 |
X | g.49217922G>T | CA516377415 | CACNA1F | c.3012C>A (p.Ala1004=) c.2850C>A (p.Ala950=) c.3045C>A (p.Ala1015=) c.279C>A (p.Ala93=) | |
X | g.49217923G>A | CA412964372 | CACNA1F | c.3011C>T (p.Ala1004Val) c.2849C>T (p.Ala950Val) c.3044C>T (p.Ala1015Val) c.278C>T (p.Ala93Val) | |
X | g.49217923G>C | CA412964374 | CACNA1F | c.3011C>G (p.Ala1004Gly) c.2849C>G (p.Ala950Gly) c.3044C>G (p.Ala1015Gly) c.278C>G (p.Ala93Gly) | |
X | g.49217923G>T | CA412964373 | CACNA1F | c.3011C>A (p.Ala1004Asp) c.2849C>A (p.Ala950Asp) c.3044C>A (p.Ala1015Asp) c.278C>A (p.Ala93Asp) | |
X | g.49217924C>A | CA412964375 | CACNA1F | c.3010G>T (p.Ala1004Ser) c.2848G>T (p.Ala950Ser) c.3043G>T (p.Ala1015Ser) c.277G>T (p.Ala93Ser) | |
X | g.49217924C= | CA2428540223 | CACNA1F | c.3010G= (p.Ala1004=) c.2848G= (p.Ala950=) c.3043G= (p.Ala1015=) c.277G= (p.Ala93=) | |
X | g.49217924C>G | CA412964376 | CACNA1F | c.3010G>C (p.Ala1004Pro) c.2848G>C (p.Ala950Pro) c.3043G>C (p.Ala1015Pro) c.277G>C (p.Ala93Pro) | |
X | g.49217924C>T | CA10410561 | CACNA1F | c.3010G>A (p.Ala1004Thr) c.2848G>A (p.Ala950Thr) c.3043G>A (p.Ala1015Thr) c.277G>A (p.Ala93Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49217925G>A | CA516377416 | CACNA1F | c.3009C>T (p.Phe1003=) c.2847C>T (p.Phe949=) c.3042C>T (p.Phe1014=) c.276C>T (p.Phe92=) | gnomAD v4 COSMIC |
X | g.49217925G>C | CA412964377 | CACNA1F | c.3009C>G (p.Phe1003Leu) c.2847C>G (p.Phe949Leu) c.3042C>G (p.Phe1014Leu) c.276C>G (p.Phe92Leu) | |
X | g.49217925G>T | CA412964378 | CACNA1F | c.3009C>A (p.Phe1003Leu) c.2847C>A (p.Phe949Leu) c.3042C>A (p.Phe1014Leu) c.276C>A (p.Phe92Leu) | |
X | g.49217926A>C | CA412964379 | CACNA1F | c.3008T>G (p.Phe1003Cys) c.2846T>G (p.Phe949Cys) c.3041T>G (p.Phe1014Cys) c.275T>G (p.Phe92Cys) | |
X | g.49217926A>G | CA412964380 | CACNA1F | c.3008T>C (p.Phe1003Ser) c.2846T>C (p.Phe949Ser) c.3041T>C (p.Phe1014Ser) c.275T>C (p.Phe92Ser) | |
X | g.49217926A>T | CA412964381 | CACNA1F | c.3008T>A (p.Phe1003Tyr) c.2846T>A (p.Phe949Tyr) c.3041T>A (p.Phe1014Tyr) c.275T>A (p.Phe92Tyr) | |
X | g.49217927A>C | CA412964382 | CACNA1F | c.3007T>G (p.Phe1003Val) c.2845T>G (p.Phe949Val) c.3040T>G (p.Phe1014Val) c.274T>G (p.Phe92Val) | |
X | g.49217927A>G | CA412964383 | CACNA1F | c.3007T>C (p.Phe1003Leu) c.2845T>C (p.Phe949Leu) c.3040T>C (p.Phe1014Leu) c.274T>C (p.Phe92Leu) | |
X | g.49217927A>T | CA412964384 | CACNA1F | c.3007T>A (p.Phe1003Ile) c.2845T>A (p.Phe949Ile) c.3040T>A (p.Phe1014Ile) c.274T>A (p.Phe92Ile) | |
X | g.49217928C>A | CA412964386 | CACNA1F | c.3006G>T (p.Met1002Ile) c.2844G>T (p.Met948Ile) c.3039G>T (p.Met1013Ile) c.273G>T (p.Met91Ile) | |
X | g.49217928C>G | CA412964387 | CACNA1F | c.3006G>C (p.Met1002Ile) c.2844G>C (p.Met948Ile) c.3039G>C (p.Met1013Ile) c.273G>C (p.Met91Ile) | |
X | g.49217928C>T | CA412964385 | CACNA1F | c.3006G>A (p.Met1002Ile) c.2844G>A (p.Met948Ile) c.3039G>A (p.Met1013Ile) c.273G>A (p.Met91Ile) | |
X | g.49217929A>C | CA412964388 | CACNA1F | c.3005T>G (p.Met1002Arg) c.2843T>G (p.Met948Arg) c.3038T>G (p.Met1013Arg) c.272T>G (p.Met91Arg) | |
X | g.49217929A>G | CA412964390 | CACNA1F | c.3005T>C (p.Met1002Thr) c.2843T>C (p.Met948Thr) c.3038T>C (p.Met1013Thr) c.272T>C (p.Met91Thr) | |
X | g.49217929A>T | CA412964389 | CACNA1F | c.3005T>A (p.Met1002Lys) c.2843T>A (p.Met948Lys) c.3038T>A (p.Met1013Lys) c.272T>A (p.Met91Lys) | dbSNP |
X | g.49217930T>A | CA412964391 | CACNA1F | c.3004A>T (p.Met1002Leu) c.2842A>T (p.Met948Leu) c.3037A>T (p.Met1013Leu) c.271A>T (p.Met91Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49217930T>C | CA412964392 | CACNA1F | c.3004A>G (p.Met1002Val) c.2842A>G (p.Met948Val) c.3037A>G (p.Met1013Val) c.271A>G (p.Met91Val) | |
X | g.49217930T>G | CA412964393 | CACNA1F | c.3004A>C (p.Met1002Leu) c.2842A>C (p.Met948Leu) c.3037A>C (p.Met1013Leu) c.271A>C (p.Met91Leu) | |
X | g.49217930T= | CA2428540224 | CACNA1F | c.3004A= (p.Met1002=) c.2842A= (p.Met948=) c.3037A= (p.Met1013=) c.271A= (p.Met91=) | |
X | g.49217931A>C | CA412964394 | CACNA1F | c.3003T>G (p.Phe1001Leu) c.2841T>G (p.Phe947Leu) c.3036T>G (p.Phe1012Leu) c.270T>G (p.Phe90Leu) | |
X | g.49217931A>G | CA516377417 | CACNA1F | c.3003T>C (p.Phe1001=) c.2841T>C (p.Phe947=) c.3036T>C (p.Phe1012=) c.270T>C (p.Phe90=) | |
X | g.49217931A>T | CA412964395 | CACNA1F | c.3003T>A (p.Phe1001Leu) c.2841T>A (p.Phe947Leu) c.3036T>A (p.Phe1012Leu) c.270T>A (p.Phe90Leu) | |
X | g.49217932A= | CA2428540225 | CACNA1F | c.3002T= (p.Phe1001=) c.2840T= (p.Phe947=) c.3035T= (p.Phe1012=) c.269T= (p.Phe90=) | |
X | g.49217932A>C | CA412964396 | CACNA1F | c.3002T>G (p.Phe1001Cys) c.2840T>G (p.Phe947Cys) c.3035T>G (p.Phe1012Cys) c.269T>G (p.Phe90Cys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49217932A>G | CA412964397 | CACNA1F | c.3002T>C (p.Phe1001Ser) c.2840T>C (p.Phe947Ser) c.3035T>C (p.Phe1012Ser) c.269T>C (p.Phe90Ser) | |
X | g.49217932A>T | CA412964398 | CACNA1F | c.3002T>A (p.Phe1001Tyr) c.2840T>A (p.Phe947Tyr) c.3035T>A (p.Phe1012Tyr) c.269T>A (p.Phe90Tyr) | |
X | g.49217933A>C | CA412964399 | CACNA1F | c.3001T>G (p.Phe1001Val) c.2839T>G (p.Phe947Val) c.3034T>G (p.Phe1012Val) c.268T>G (p.Phe90Val) | |
X | g.49217933A>G | CA412964400 | CACNA1F | c.3001T>C (p.Phe1001Leu) c.2839T>C (p.Phe947Leu) c.3034T>C (p.Phe1012Leu) c.268T>C (p.Phe90Leu) | |
X | g.49217933A>T | CA412964401 | CACNA1F | c.3001T>A (p.Phe1001Ile) c.2839T>A (p.Phe947Ile) c.3034T>A (p.Phe1012Ile) c.268T>A (p.Phe90Ile) | |
X | g.49217934T>A | CA412964403 | CACNA1F | c.3000A>T (p.Gln1000His) c.2838A>T (p.Gln946His) c.3033A>T (p.Gln1011His) c.267A>T (p.Gln89His) | |
X | g.49217934T>C | CA516377418 | CACNA1F | c.3000A>G (p.Gln1000=) c.2838A>G (p.Gln946=) c.3033A>G (p.Gln1011=) c.267A>G (p.Gln89=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49217934T>G | CA412964402 | CACNA1F | c.3000A>C (p.Gln1000His) c.2838A>C (p.Gln946His) c.3033A>C (p.Gln1011His) c.267A>C (p.Gln89His) | |
X | g.49217934T= | CA2428540226 | CACNA1F | c.3000A= (p.Gln1000=) c.2838A= (p.Gln946=) c.3033A= (p.Gln1011=) c.267A= (p.Gln89=) | |
X | g.49217935T>A | CA412964404 | CACNA1F | c.2999A>T (p.Gln1000Leu) c.2837A>T (p.Gln946Leu) c.3032A>T (p.Gln1011Leu) c.266A>T (p.Gln89Leu) | |
X | g.49217935T>C | CA412964405 | CACNA1F | c.2999A>G (p.Gln1000Arg) c.2837A>G (p.Gln946Arg) c.3032A>G (p.Gln1011Arg) c.266A>G (p.Gln89Arg) | |
X | g.49217935T>G | CA412964406 | CACNA1F | c.2999A>C (p.Gln1000Pro) c.2837A>C (p.Gln946Pro) c.3032A>C (p.Gln1011Pro) c.266A>C (p.Gln89Pro) | |
X | g.49217936G>A | CA412964407 | CACNA1F | c.2998C>T (p.Gln1000Ter) c.2836C>T (p.Gln946Ter) c.3031C>T (p.Gln1011Ter) c.265C>T (p.Gln89Ter) | ClinVar |
X | g.49217936G>C | CA412964408 | CACNA1F | c.2998C>G (p.Gln1000Glu) c.2836C>G (p.Gln946Glu) c.3031C>G (p.Gln1011Glu) c.265C>G (p.Gln89Glu) | |
X | g.49217936G>T | CA412964409 | CACNA1F | c.2998C>A (p.Gln1000Lys) c.2836C>A (p.Gln946Lys) c.3031C>A (p.Gln1011Lys) c.265C>A (p.Gln89Lys) | dbSNP |
X | g.49217937C>A | CA516377421 | CACNA1F | c.2997G>T (p.Leu999=) c.2835G>T (p.Leu945=) c.3030G>T (p.Leu1010=) c.264G>T (p.Leu88=) | |
X | g.49217937C>G | CA516377420 | CACNA1F | c.2997G>C (p.Leu999=) c.2835G>C (p.Leu945=) c.3030G>C (p.Leu1010=) c.264G>C (p.Leu88=) | |
X | g.49217937C>T | CA516377419 | CACNA1F | c.2997G>A (p.Leu999=) c.2835G>A (p.Leu945=) c.3030G>A (p.Leu1010=) c.264G>A (p.Leu88=) | |
X | g.49217938A>C | CA412964410 | CACNA1F | c.2996T>G (p.Leu999Arg) c.2834T>G (p.Leu945Arg) c.3029T>G (p.Leu1010Arg) c.263T>G (p.Leu88Arg) | |
X | g.49217938A>G | CA412964411 | CACNA1F | c.2996T>C (p.Leu999Pro) c.2834T>C (p.Leu945Pro) c.3029T>C (p.Leu1010Pro) c.263T>C (p.Leu88Pro) | |
X | g.49217938A>T | CA412964412 | CACNA1F | c.2996T>A (p.Leu999Gln) c.2834T>A (p.Leu945Gln) c.3029T>A (p.Leu1010Gln) c.263T>A (p.Leu88Gln) | |
X | g.49217939G>A | CA516377422 | CACNA1F | c.2995C>T (p.Leu999=) c.2833C>T (p.Leu945=) c.3028C>T (p.Leu1010=) c.262C>T (p.Leu88=) | |
X | g.49217939G>C | CA412964413 | CACNA1F | c.2995C>G (p.Leu999Val) c.2833C>G (p.Leu945Val) c.3028C>G (p.Leu1010Val) c.262C>G (p.Leu88Val) | |
X | g.49217939G>T | CA412964414 | CACNA1F | c.2995C>A (p.Leu999Met) c.2833C>A (p.Leu945Met) c.3028C>A (p.Leu1010Met) c.262C>A (p.Leu88Met) | |
X | g.49217940A= | CA2428540227 | CACNA1F | c.2994T= (p.Leu998=) c.2832T= (p.Leu944=) c.3027T= (p.Leu1009=) c.261T= (p.Leu87=) | |
X | g.49217940A>C | CA329140774 | CACNA1F | c.2994T>G (p.Leu998=) c.2832T>G (p.Leu944=) c.3027T>G (p.Leu1009=) c.261T>G (p.Leu87=) | dbSNP |
X | g.49217940A>G | CA516377423 | CACNA1F | c.2994T>C (p.Leu998=) c.2832T>C (p.Leu944=) c.3027T>C (p.Leu1009=) c.261T>C (p.Leu87=) | |
X | g.49217940A>T | CA516377424 | CACNA1F | c.2994T>A (p.Leu998=) c.2832T>A (p.Leu944=) c.3027T>A (p.Leu1009=) c.261T>A (p.Leu87=) | |
X | g.49217941A>C | CA412964416 | CACNA1F | c.2993T>G (p.Leu998Arg) c.2831T>G (p.Leu944Arg) c.3026T>G (p.Leu1009Arg) c.260T>G (p.Leu87Arg) | |
X | g.49217941A>G | CA412964417 | CACNA1F | c.2993T>C (p.Leu998Pro) c.2831T>C (p.Leu944Pro) c.3026T>C (p.Leu1009Pro) c.260T>C (p.Leu87Pro) | |
X | g.49217941A>T | CA412964415 | CACNA1F | c.2993T>A (p.Leu998His) c.2831T>A (p.Leu944His) c.3026T>A (p.Leu1009His) c.260T>A (p.Leu87His) | |
X | g.49217942G>A | CA412964418 | CACNA1F | c.2992C>T (p.Leu998Phe) c.2830C>T (p.Leu944Phe) c.3025C>T (p.Leu1009Phe) c.259C>T (p.Leu87Phe) | gnomAD v4 |
X | g.49217942G>C | CA412964419 | CACNA1F | c.2992C>G (p.Leu998Val) c.2830C>G (p.Leu944Val) c.3025C>G (p.Leu1009Val) c.259C>G (p.Leu87Val) | |
X | g.49217942G>T | CA412964420 | CACNA1F | c.2992C>A (p.Leu998Ile) c.2830C>A (p.Leu944Ile) c.3025C>A (p.Leu1009Ile) c.259C>A (p.Leu87Ile) | |
X | g.49217943T>A | CA516377425 | CACNA1F | c.2991A>T (p.Thr997=) c.2829A>T (p.Thr943=) c.3024A>T (p.Thr1008=) c.258A>T (p.Thr86=) | |
X | g.49217943T>C | CA516377426 | CACNA1F | c.2991A>G (p.Thr997=) c.2829A>G (p.Thr943=) c.3024A>G (p.Thr1008=) c.258A>G (p.Thr86=) | |
X | g.49217943T>G | CA516377427 | CACNA1F | c.2991A>C (p.Thr997=) c.2829A>C (p.Thr943=) c.3024A>C (p.Thr1008=) c.258A>C (p.Thr86=) | gnomAD v4 |
X | g.49217944G>A | CA412964421 | CACNA1F | c.2990C>T (p.Thr997Ile) c.2828C>T (p.Thr943Ile) c.3023C>T (p.Thr1008Ile) c.257C>T (p.Thr86Ile) | |
X | g.49217944G>C | CA412964422 | CACNA1F | c.2990C>G (p.Thr997Arg) c.2828C>G (p.Thr943Arg) c.3023C>G (p.Thr1008Arg) c.257C>G (p.Thr86Arg) | |
X | g.49217944G>T | CA412964423 | CACNA1F | c.2990C>A (p.Thr997Lys) c.2828C>A (p.Thr943Lys) c.3023C>A (p.Thr1008Lys) c.257C>A (p.Thr86Lys) | |
X | g.49217947_49217949del | CA2693707735 | CACNA1F | c.2988_2990del (p.Thr997del) c.2826_2828del (p.Thr943del) c.3021_3023del (p.Thr1008del) c.255_257del (p.Thr86del) | gnomAD v4 |
X | g.49217945T>A | CA412964424 | CACNA1F | c.2989A>T (p.Thr997Ser) c.2827A>T (p.Thr943Ser) c.3022A>T (p.Thr1008Ser) c.256A>T (p.Thr86Ser) | |
X | g.49217945T>C | CA412964425 | CACNA1F | c.2989A>G (p.Thr997Ala) c.2827A>G (p.Thr943Ala) c.3022A>G (p.Thr1008Ala) c.256A>G (p.Thr86Ala) | |
X | g.49217945T>G | CA412964426 | CACNA1F | c.2989A>C (p.Thr997Pro) c.2827A>C (p.Thr943Pro) c.3022A>C (p.Thr1008Pro) c.256A>C (p.Thr86Pro) | |
X | g.49217946G>A | CA516377428 | CACNA1F | c.2988C>T (p.Thr996=) c.2826C>T (p.Thr942=) c.3021C>T (p.Thr1007=) c.255C>T (p.Thr85=) | |
X | g.49217946G>C | CA516377429 | CACNA1F | c.2988C>G (p.Thr996=) c.2826C>G (p.Thr942=) c.3021C>G (p.Thr1007=) c.255C>G (p.Thr85=) | |
X | g.49217946G>T | CA516377430 | CACNA1F | c.2988C>A (p.Thr996=) c.2826C>A (p.Thr942=) c.3021C>A (p.Thr1007=) c.255C>A (p.Thr85=) | |
X | g.49217947G>A | CA412964427 | CACNA1F | c.2987C>T (p.Thr996Ile) c.2825C>T (p.Thr942Ile) c.3020C>T (p.Thr1007Ile) c.254C>T (p.Thr85Ile) | dbSNP |
X | g.49217947G>C | CA412964428 | CACNA1F | c.2987C>G (p.Thr996Ser) c.2825C>G (p.Thr942Ser) c.3020C>G (p.Thr1007Ser) c.254C>G (p.Thr85Ser) | |
X | g.49217947G>T | CA412964429 | CACNA1F | c.2987C>A (p.Thr996Asn) c.2825C>A (p.Thr942Asn) c.3020C>A (p.Thr1007Asn) c.254C>A (p.Thr85Asn) | gnomAD v4 |
X | g.49217948T>A | CA412964431 | CACNA1F | c.2986A>T (p.Thr996Ser) c.2824A>T (p.Thr942Ser) c.3019A>T (p.Thr1007Ser) c.253A>T (p.Thr85Ser) | |
X | g.49217948T>C | CA10410562 | CACNA1F | c.2986A>G (p.Thr996Ala) c.2824A>G (p.Thr942Ala) c.3019A>G (p.Thr1007Ala) c.253A>G (p.Thr85Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49217948T>G | CA412964430 | CACNA1F | c.2986A>C (p.Thr996Pro) c.2824A>C (p.Thr942Pro) c.3019A>C (p.Thr1007Pro) c.253A>C (p.Thr85Pro) | |
X | g.49217948T= | CA2428540228 | CACNA1F | c.2986A= (p.Thr996=) c.2824A= (p.Thr942=) c.3019A= (p.Thr1007=) c.253A= (p.Thr85=) | |
X | g.49217949G>A | CA516377431 | CACNA1F | c.2985C>T (p.Val995=) c.2823C>T (p.Val941=) c.3018C>T (p.Val1006=) c.252C>T (p.Val84=) | |
X | g.49217949G>C | CA516377432 | CACNA1F | c.2985C>G (p.Val995=) c.2823C>G (p.Val941=) c.3018C>G (p.Val1006=) c.252C>G (p.Val84=) | |
X | g.49217949G>T | CA516377433 | CACNA1F | c.2985C>A (p.Val995=) c.2823C>A (p.Val941=) c.3018C>A (p.Val1006=) c.252C>A (p.Val84=) | |
X | g.49217950A>C | CA412964432 | CACNA1F | c.2984T>G (p.Val995Gly) c.2822T>G (p.Val941Gly) c.3017T>G (p.Val1006Gly) c.251T>G (p.Val84Gly) | |
X | g.49217950A>G | CA412964433 | CACNA1F | c.2984T>C (p.Val995Ala) c.2822T>C (p.Val941Ala) c.3017T>C (p.Val1006Ala) c.251T>C (p.Val84Ala) | |
X | g.49217950A>T | CA412964434 | CACNA1F | c.2984T>A (p.Val995Asp) c.2822T>A (p.Val941Asp) c.3017T>A (p.Val1006Asp) c.251T>A (p.Val84Asp) | |
X | g.49217951C>A | CA412964435 | CACNA1F | c.2983G>T (p.Val995Phe) c.2821G>T (p.Val941Phe) c.3016G>T (p.Val1006Phe) c.250G>T (p.Val84Phe) | |
X | g.49217951C>G | CA412964436 | CACNA1F | c.2983G>C (p.Val995Leu) c.2821G>C (p.Val941Leu) c.3016G>C (p.Val1006Leu) c.250G>C (p.Val84Leu) | |
X | g.49217951C>T | CA412964437 | CACNA1F | c.2983G>A (p.Val995Ile) c.2821G>A (p.Val941Ile) c.3016G>A (p.Val1006Ile) c.250G>A (p.Val84Ile) | |
X | g.49217952A>C | CA412964438 | CACNA1F | c.2982T>G (p.Ile994Met) c.2820T>G (p.Ile940Met) c.3015T>G (p.Ile1005Met) c.249T>G (p.Ile83Met) | |
X | g.49217952A>G | CA516377434 | CACNA1F | c.2982T>C (p.Ile994=) c.2820T>C (p.Ile940=) c.3015T>C (p.Ile1005=) c.249T>C (p.Ile83=) | ClinVar dbSNP |
X | g.49217952A>T | CA516377435 | CACNA1F | c.2982T>A (p.Ile994=) c.2820T>A (p.Ile940=) c.3015T>A (p.Ile1005=) c.249T>A (p.Ile83=) | |
X | g.49217953A>C | CA412964439 | CACNA1F | c.2981T>G (p.Ile994Ser) c.2819T>G (p.Ile940Ser) c.3014T>G (p.Ile1005Ser) c.248T>G (p.Ile83Ser) | |
X | g.49217953A>G | CA412964440 | CACNA1F | c.2981T>C (p.Ile994Thr) c.2819T>C (p.Ile940Thr) c.3014T>C (p.Ile1005Thr) c.248T>C (p.Ile83Thr) | |
X | g.49217953A>T | CA412964441 | CACNA1F | c.2981T>A (p.Ile994Asn) c.2819T>A (p.Ile940Asn) c.3014T>A (p.Ile1005Asn) c.248T>A (p.Ile83Asn) | |
X | g.49217954T>A | CA412964442 | CACNA1F | c.2980A>T (p.Ile994Phe) c.2818A>T (p.Ile940Phe) c.3013A>T (p.Ile1005Phe) c.247A>T (p.Ile83Phe) | |
X | g.49217954T>C | CA412964443 | CACNA1F | c.2980A>G (p.Ile994Val) c.2818A>G (p.Ile940Val) c.3013A>G (p.Ile1005Val) c.247A>G (p.Ile83Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49217954T>G | CA412964444 | CACNA1F | c.2980A>C (p.Ile994Leu) c.2818A>C (p.Ile940Leu) c.3013A>C (p.Ile1005Leu) c.247A>C (p.Ile83Leu) | |
X | g.49217954T= | CA2428540229 | CACNA1F | c.2980A= (p.Ile994=) c.2818A= (p.Ile940=) c.3013A= (p.Ile1005=) c.247A= (p.Ile83=) | |
X | g.49217955C>A | CA412964446 | CACNA1F | c.2979G>T (p.Met993Ile) c.2817G>T (p.Met939Ile) c.3012G>T (p.Met1004Ile) c.246G>T (p.Met82Ile) | |
X | g.49217955C>G | CA412964447 | CACNA1F | c.2979G>C (p.Met993Ile) c.2817G>C (p.Met939Ile) c.3012G>C (p.Met1004Ile) c.246G>C (p.Met82Ile) | |
X | g.49217955C>T | CA412964445 | CACNA1F | c.2979G>A (p.Met993Ile) c.2817G>A (p.Met939Ile) c.3012G>A (p.Met1004Ile) c.246G>A (p.Met82Ile) | gnomAD v4 |
X | g.49217956A>C | CA412964449 | CACNA1F | c.2978T>G (p.Met993Arg) c.2816T>G (p.Met939Arg) c.3011T>G (p.Met1004Arg) c.245T>G (p.Met82Arg) | |
X | g.49217956A>G | CA412964448 | CACNA1F | c.2978T>C (p.Met993Thr) c.2816T>C (p.Met939Thr) c.3011T>C (p.Met1004Thr) c.245T>C (p.Met82Thr) | |
X | g.49217956A>T | CA412964450 | CACNA1F | c.2978T>A (p.Met993Lys) c.2816T>A (p.Met939Lys) c.3011T>A (p.Met1004Lys) c.245T>A (p.Met82Lys) | |
X | g.49217959_49217961del | CA2695233571 | CACNA1F | c.2976_2978del (p.Ile992del) c.2814_2816del (p.Ile938del) c.3009_3011del (p.Ile1003del) c.243_245del (p.Ile81del) | |
X | g.49217957T>A | CA412964451 | CACNA1F | c.2977A>T (p.Met993Leu) c.2815A>T (p.Met939Leu) c.3010A>T (p.Met1004Leu) c.244A>T (p.Met82Leu) | |
X | g.49217957T>C | CA412964452 | CACNA1F | c.2977A>G (p.Met993Val) c.2815A>G (p.Met939Val) c.3010A>G (p.Met1004Val) c.244A>G (p.Met82Val) | gnomAD v4 |
X | g.49217957T>G | CA412964453 | CACNA1F | c.2977A>C (p.Met993Leu) c.2815A>C (p.Met939Leu) c.3010A>C (p.Met1004Leu) c.244A>C (p.Met82Leu) | |
X | g.49217958G>A | CA516377436 | CACNA1F | c.2976C>T (p.Ile992=) c.2814C>T (p.Ile938=) c.3009C>T (p.Ile1003=) c.243C>T (p.Ile81=) | ClinVar |
X | g.49217958G>C | CA412964454 | CACNA1F | c.2976C>G (p.Ile992Met) c.2814C>G (p.Ile938Met) c.3009C>G (p.Ile1003Met) c.243C>G (p.Ile81Met) | |
X | g.49217958G>T | CA516377437 | CACNA1F | c.2976C>A (p.Ile992=) c.2814C>A (p.Ile938=) c.3009C>A (p.Ile1003=) c.243C>A (p.Ile81=) | |
X | g.49217959A>C | CA412964455 | CACNA1F | c.2975T>G (p.Ile992Ser) c.2813T>G (p.Ile938Ser) c.3008T>G (p.Ile1003Ser) c.242T>G (p.Ile81Ser) | |
X | g.49217959A>G | CA412964456 | CACNA1F | c.2975T>C (p.Ile992Thr) c.2813T>C (p.Ile938Thr) c.3008T>C (p.Ile1003Thr) c.242T>C (p.Ile81Thr) | |
X | g.49217959A>T | CA412964457 | CACNA1F | c.2975T>A (p.Ile992Asn) c.2813T>A (p.Ile938Asn) c.3008T>A (p.Ile1003Asn) c.242T>A (p.Ile81Asn) | |
X | g.49217960T>A | CA412964458 | CACNA1F | c.2974A>T (p.Ile992Phe) c.2812A>T (p.Ile938Phe) c.3007A>T (p.Ile1003Phe) c.241A>T (p.Ile81Phe) | |
X | g.49217960T>C | CA412964459 | CACNA1F | c.2974A>G (p.Ile992Val) c.2812A>G (p.Ile938Val) c.3007A>G (p.Ile1003Val) c.241A>G (p.Ile81Val) | |
X | g.49217960T>G | CA412964460 | CACNA1F | c.2974A>C (p.Ile992Leu) c.2812A>C (p.Ile938Leu) c.3007A>C (p.Ile1003Leu) c.241A>C (p.Ile81Leu) | |
X | g.49217961G>A | CA516377438 | CACNA1F | c.2973C>T (p.Asn991=) c.2811C>T (p.Asn937=) c.3006C>T (p.Asn1002=) c.240C>T (p.Asn80=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49217961G>C | CA412964461 | CACNA1F | c.2973C>G (p.Asn991Lys) c.2811C>G (p.Asn937Lys) c.3006C>G (p.Asn1002Lys) c.240C>G (p.Asn80Lys) | |
X | g.49217961G= | CA2428540230 | CACNA1F | c.2973C= (p.Asn991=) c.2811C= (p.Asn937=) c.3006C= (p.Asn1002=) c.240C= (p.Asn80=) | |
X | g.49217961G>T | CA412964462 | CACNA1F | c.2973C>A (p.Asn991Lys) c.2811C>A (p.Asn937Lys) c.3006C>A (p.Asn1002Lys) c.240C>A (p.Asn80Lys) | |
X | g.49217962T>A | CA412964464 | CACNA1F | c.2972A>T (p.Asn991Ile) c.2810A>T (p.Asn937Ile) c.3005A>T (p.Asn1002Ile) c.239A>T (p.Asn80Ile) | COSMIC |
X | g.49217962T>C | CA10410563 | CACNA1F | c.2972A>G (p.Asn991Ser) c.2810A>G (p.Asn937Ser) c.3005A>G (p.Asn1002Ser) c.239A>G (p.Asn80Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49217962T>G | CA412964463 | CACNA1F | c.2972A>C (p.Asn991Thr) c.2810A>C (p.Asn937Thr) c.3005A>C (p.Asn1002Thr) c.239A>C (p.Asn80Thr) | |
X | g.49217962T= | CA2428540231 | CACNA1F | c.2972A= (p.Asn991=) c.2810A= (p.Asn937=) c.3005A= (p.Asn1002=) c.239A= (p.Asn80=) | |
X | g.49217963T>A | CA412964465 | CACNA1F | c.2971A>T (p.Asn991Tyr) c.2809A>T (p.Asn937Tyr) c.3004A>T (p.Asn1002Tyr) c.238A>T (p.Asn80Tyr) | |
X | g.49217963T>C | CA412964466 | CACNA1F | c.2971A>G (p.Asn991Asp) c.2809A>G (p.Asn937Asp) c.3004A>G (p.Asn1002Asp) c.238A>G (p.Asn80Asp) | |
X | g.49217963T>G | CA412964467 | CACNA1F | c.2971A>C (p.Asn991His) c.2809A>C (p.Asn937His) c.3004A>C (p.Asn1002His) c.238A>C (p.Asn80His) | |
X | g.49217964T>A | CA516377439 | CACNA1F | c.2970A>T (p.Gly990=) c.2808A>T (p.Gly936=) c.3003A>T (p.Gly1001=) c.237A>T (p.Gly79=) | |
X | g.49217964T>C | CA516377440 | CACNA1F | c.2970A>G (p.Gly990=) c.2808A>G (p.Gly936=) c.3003A>G (p.Gly1001=) c.237A>G (p.Gly79=) | |
X | g.49217964T>G | CA516377441 | CACNA1F | c.2970A>C (p.Gly990=) c.2808A>C (p.Gly936=) c.3003A>C (p.Gly1001=) c.237A>C (p.Gly79=) | |
X | g.49217965C>A | CA412964468 | CACNA1F | c.2969G>T (p.Gly990Val) c.2807G>T (p.Gly936Val) c.3002G>T (p.Gly1001Val) c.236G>T (p.Gly79Val) | |
X | g.49217965C>G | CA412964469 | CACNA1F | c.2969G>C (p.Gly990Ala) c.2807G>C (p.Gly936Ala) c.3002G>C (p.Gly1001Ala) c.236G>C (p.Gly79Ala) | |
X | g.49217965C>T | CA412964470 | CACNA1F | c.2969G>A (p.Gly990Glu) c.2807G>A (p.Gly936Glu) c.3002G>A (p.Gly1001Glu) c.236G>A (p.Gly79Glu) | |
X | g.49217966C>A | CA412964471 | CACNA1F | c.2968G>T (p.Gly990Ter) c.2806G>T (p.Gly936Ter) c.3001G>T (p.Gly1001Ter) c.235G>T (p.Gly79Ter) | |
X | g.49217966C= | CA2428540232 | CACNA1F | c.2968G= (p.Gly990=) c.2806G= (p.Gly936=) c.3001G= (p.Gly1001=) c.235G= (p.Gly79=) | |
X | g.49217966C>G | CA412964472 | CACNA1F | c.2968G>C (p.Gly990Arg) c.2806G>C (p.Gly936Arg) c.3001G>C (p.Gly1001Arg) c.235G>C (p.Gly79Arg) | ClinVar dbSNP |
X | g.49217966C>T | CA10410564 | CACNA1F | c.2968G>A (p.Gly990Arg) c.2806G>A (p.Gly936Arg) c.3001G>A (p.Gly1001Arg) c.235G>A (p.Gly79Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49217967G>A | CA10410565 | CACNA1F | c.2967C>T (p.Ile989=) c.2805C>T (p.Ile935=) c.3000C>T (p.Ile1000=) c.234C>T (p.Ile78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49217967G>C | CA329140788 | CACNA1F | c.2967C>G (p.Ile989Met) c.2805C>G (p.Ile935Met) c.3000C>G (p.Ile1000Met) c.234C>G (p.Ile78Met) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49217967G= | CA2428540233 | CACNA1F | c.2967C= (p.Ile989=) c.2805C= (p.Ile935=) c.3000C= (p.Ile1000=) c.234C= (p.Ile78=) | |
X | g.49217967G>T | CA516377442 | CACNA1F | c.2967C>A (p.Ile989=) c.2805C>A (p.Ile935=) c.3000C>A (p.Ile1000=) c.234C>A (p.Ile78=) | |
X | g.49217968A>C | CA412964474 | CACNA1F | c.2966T>G (p.Ile989Ser) c.2804T>G (p.Ile935Ser) c.2999T>G (p.Ile1000Ser) c.233T>G (p.Ile78Ser) | ClinVar |
X | g.49217968A>G | CA412964475 | CACNA1F | c.2966T>C (p.Ile989Thr) c.2804T>C (p.Ile935Thr) c.2999T>C (p.Ile1000Thr) c.233T>C (p.Ile78Thr) | gnomAD v4 |
X | g.49217968A>T | CA412964473 | CACNA1F | c.2966T>A (p.Ile989Asn) c.2804T>A (p.Ile935Asn) c.2999T>A (p.Ile1000Asn) c.233T>A (p.Ile78Asn) | |
X | g.49217969T>A | CA412964476 | CACNA1F | c.2965A>T (p.Ile989Phe) c.2803A>T (p.Ile935Phe) c.2998A>T (p.Ile1000Phe) c.232A>T (p.Ile78Phe) | |
X | g.49217969T>C | CA412964477 | CACNA1F | c.2965A>G (p.Ile989Val) c.2803A>G (p.Ile935Val) c.2998A>G (p.Ile1000Val) c.232A>G (p.Ile78Val) | ClinVar |
X | g.49217969T>G | CA412964478 | CACNA1F | c.2965A>C (p.Ile989Leu) c.2803A>C (p.Ile935Leu) c.2998A>C (p.Ile1000Leu) c.232A>C (p.Ile78Leu) | |
X | g.49217970G>A | CA516377445 | CACNA1F | c.2964C>T (p.Thr988=) c.2802C>T (p.Thr934=) c.2997C>T (p.Thr999=) c.231C>T (p.Thr77=) | |
X | g.49217970G>C | CA516377443 | CACNA1F | c.2964C>G (p.Thr988=) c.2802C>G (p.Thr934=) c.2997C>G (p.Thr999=) c.231C>G (p.Thr77=) | gnomAD v4 |
X | g.49217970G>T | CA516377444 | CACNA1F | c.2964C>A (p.Thr988=) c.2802C>A (p.Thr934=) c.2997C>A (p.Thr999=) c.231C>A (p.Thr77=) | |
X | g.49217971G>A | CA412964479 | CACNA1F | c.2963C>T (p.Thr988Ile) c.2801C>T (p.Thr934Ile) c.2996C>T (p.Thr999Ile) c.230C>T (p.Thr77Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49217971G>C | CA412964480 | CACNA1F | c.2963C>G (p.Thr988Ser) c.2801C>G (p.Thr934Ser) c.2996C>G (p.Thr999Ser) c.230C>G (p.Thr77Ser) | |
X | g.49217971G= | CA2428540234 | CACNA1F | c.2963C= (p.Thr988=) c.2801C= (p.Thr934=) c.2996C= (p.Thr999=) c.230C= (p.Thr77=) | |
X | g.49217971G>T | CA412964481 | CACNA1F | c.2963C>A (p.Thr988Asn) c.2801C>A (p.Thr934Asn) c.2996C>A (p.Thr999Asn) c.230C>A (p.Thr77Asn) | |
X | g.49217972T>A | CA412964482 | CACNA1F | c.2962A>T (p.Thr988Ser) c.2800A>T (p.Thr934Ser) c.2995A>T (p.Thr999Ser) c.229A>T (p.Thr77Ser) | |
X | g.49217972T>C | CA412964483 | CACNA1F | c.2962A>G (p.Thr988Ala) c.2800A>G (p.Thr934Ala) c.2995A>G (p.Thr999Ala) c.229A>G (p.Thr77Ala) | |
X | g.49217972T>G | CA412964484 | CACNA1F | c.2962A>C (p.Thr988Pro) c.2800A>C (p.Thr934Pro) c.2995A>C (p.Thr999Pro) c.229A>C (p.Thr77Pro) | |
X | g.49217973C>A | CA516377446 | CACNA1F | c.2961G>T (p.Arg987=) c.2799G>T (p.Arg933=) c.2994G>T (p.Arg998=) c.228G>T (p.Arg76=) | |
X | g.49217973C>G | CA516377447 | CACNA1F | c.2961G>C (p.Arg987=) c.2799G>C (p.Arg933=) c.2994G>C (p.Arg998=) c.228G>C (p.Arg76=) | gnomAD v4 |
X | g.49217973C>T | CA516377448 | CACNA1F | c.2961G>A (p.Arg987=) c.2799G>A (p.Arg933=) c.2994G>A (p.Arg998=) c.228G>A (p.Arg76=) | |
X | g.49217974C>A | CA412964485 | CACNA1F | c.2960G>T (p.Arg987Leu) c.2798G>T (p.Arg933Leu) c.2993G>T (p.Arg998Leu) c.227G>T (p.Arg76Leu) | gnomAD v4 |
X | g.49217974C= | CA2428540235 | CACNA1F | c.2960G= (p.Arg987=) c.2798G= (p.Arg933=) c.2993G= (p.Arg998=) c.227G= (p.Arg76=) | |
X | g.49217974C>G | CA412964486 | CACNA1F | c.2960G>C (p.Arg987Pro) c.2798G>C (p.Arg933Pro) c.2993G>C (p.Arg998Pro) c.227G>C (p.Arg76Pro) | |
X | g.49217974C>T | CA10410566 | CACNA1F | c.2960G>A (p.Arg987Gln) c.2798G>A (p.Arg933Gln) c.2993G>A (p.Arg998Gln) c.227G>A (p.Arg76Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.49217975G>A | CA412964487 | CACNA1F | c.2959C>T (p.Arg987Trp) c.2797C>T (p.Arg933Trp) c.2992C>T (p.Arg998Trp) c.226C>T (p.Arg76Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.49217975G>C | CA412964488 | CACNA1F | c.2959C>G (p.Arg987Gly) c.2797C>G (p.Arg933Gly) c.2992C>G (p.Arg998Gly) c.226C>G (p.Arg76Gly) | |
X | g.49217975G= | CA2428540236 | CACNA1F | c.2959C= (p.Arg987=) c.2797C= (p.Arg933=) c.2992C= (p.Arg998=) c.226C= (p.Arg76=) | |
X | g.49217975G>T | CA10410567 | CACNA1F | c.2959C>A (p.Arg987=) c.2797C>A (p.Arg933=) c.2992C>A (p.Arg998=) c.226C>A (p.Arg76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49217975_49217976del | CA2579607624 | CACNA1F | c.2958_2959del (p.Ile986MetfsTer?) c.2796_2797del (p.Ile932MetfsTer?) c.2991_2992del (p.Ile997MetfsTer?) c.225_226del (p.Ile75MetfsTer?) | |
X | g.49217976G>A | CA10410568 | CACNA1F | c.2958C>T (p.Ile986=) c.2796C>T (p.Ile932=) c.2991C>T (p.Ile997=) c.225C>T (p.Ile75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49217976G>C | CA412964489 | CACNA1F | c.2958C>G (p.Ile986Met) c.2796C>G (p.Ile932Met) c.2991C>G (p.Ile997Met) c.225C>G (p.Ile75Met) | |
X | g.49217976G= | CA2428540237 | CACNA1F | c.2958C= (p.Ile986=) c.2796C= (p.Ile932=) c.2991C= (p.Ile997=) c.225C= (p.Ile75=) | |
X | g.49217976G>T | CA516377449 | CACNA1F | c.2958C>A (p.Ile986=) c.2796C>A (p.Ile932=) c.2991C>A (p.Ile997=) c.225C>A (p.Ile75=) | |
X | g.49217977A>C | CA412964490 | CACNA1F | c.2957T>G (p.Ile986Ser) c.2795T>G (p.Ile932Ser) c.2990T>G (p.Ile997Ser) c.224T>G (p.Ile75Ser) | |
X | g.49217977A>G | CA412964491 | CACNA1F | c.2957T>C (p.Ile986Thr) c.2795T>C (p.Ile932Thr) c.2990T>C (p.Ile997Thr) c.224T>C (p.Ile75Thr) | |
X | g.49217977A>T | CA412964492 | CACNA1F | c.2957T>A (p.Ile986Asn) c.2795T>A (p.Ile932Asn) c.2990T>A (p.Ile997Asn) c.224T>A (p.Ile75Asn) | |
X | g.49217978T>A | CA412964495 | CACNA1F | c.2956A>T (p.Ile986Phe) c.2794A>T (p.Ile932Phe) c.2989A>T (p.Ile997Phe) c.223A>T (p.Ile75Phe) | |
X | g.49217978T>C | CA412964494 | CACNA1F | c.2956A>G (p.Ile986Val) c.2794A>G (p.Ile932Val) c.2989A>G (p.Ile997Val) c.223A>G (p.Ile75Val) | |
X | g.49217978T>G | CA412964493 | CACNA1F | c.2956A>C (p.Ile986Leu) c.2794A>C (p.Ile932Leu) c.2989A>C (p.Ile997Leu) c.223A>C (p.Ile75Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49217978T= | CA2428540238 | CACNA1F | c.2956A= (p.Ile986=) c.2794A= (p.Ile932=) c.2989A= (p.Ile997=) c.223A= (p.Ile75=) | |
X | g.49217979G>A | CA516377450 | CACNA1F | c.2955C>T (p.Ala985=) c.2793C>T (p.Ala931=) c.2988C>T (p.Ala996=) c.222C>T (p.Ala74=) | |
X | g.49217979G>C | CA516377451 | CACNA1F | c.2955C>G (p.Ala985=) c.2793C>G (p.Ala931=) c.2988C>G (p.Ala996=) c.222C>G (p.Ala74=) | |
X | g.49217979G>T | CA516377452 | CACNA1F | c.2955C>A (p.Ala985=) c.2793C>A (p.Ala931=) c.2988C>A (p.Ala996=) c.222C>A (p.Ala74=) | |
X | g.49217980G>A | CA412964496 | CACNA1F | c.2954C>T (p.Ala985Val) c.2792C>T (p.Ala931Val) c.2987C>T (p.Ala996Val) c.221C>T (p.Ala74Val) | |
X | g.49217980G>C | CA412964497 | CACNA1F | c.2954C>G (p.Ala985Gly) c.2792C>G (p.Ala931Gly) c.2987C>G (p.Ala996Gly) c.221C>G (p.Ala74Gly) | |
X | g.49217980G>T | CA412964498 | CACNA1F | c.2954C>A (p.Ala985Asp) c.2792C>A (p.Ala931Asp) c.2987C>A (p.Ala996Asp) c.221C>A (p.Ala74Asp) | gnomAD v4 |
X | g.49217981C>A | CA412964499 | CACNA1F | c.2953G>T (p.Ala985Ser) c.2791G>T (p.Ala931Ser) c.2986G>T (p.Ala996Ser) c.220G>T (p.Ala74Ser) | |
X | g.49217981C>G | CA412964500 | CACNA1F | c.2953G>C (p.Ala985Pro) c.2791G>C (p.Ala931Pro) c.2986G>C (p.Ala996Pro) c.220G>C (p.Ala74Pro) | |
X | g.49217981C>T | CA412964501 | CACNA1F | c.2953G>A (p.Ala985Thr) c.2791G>A (p.Ala931Thr) c.2986G>A (p.Ala996Thr) c.220G>A (p.Ala74Thr) | |
X | g.49217982del | CA2579607625 | CACNA1F | c.2953del (p.Ala985ProfsTer9) c.2791del (p.Ala931ProfsTer9) c.2986del (p.Ala996ProfsTer9) c.220del (p.Ala74ProfsTer9) | ClinVar |
X | g.49217982C>A | CA516377455 | CACNA1F | c.2952G>T (p.Val984=) c.2790G>T (p.Val930=) c.2985G>T (p.Val995=) c.219G>T (p.Val73=) | |
X | g.49217982C>G | CA516377454 | CACNA1F | c.2952G>C (p.Val984=) c.2790G>C (p.Val930=) c.2985G>C (p.Val995=) c.219G>C (p.Val73=) | |
X | g.49217982C>T | CA516377453 | CACNA1F | c.2952G>A (p.Val984=) c.2790G>A (p.Val930=) c.2985G>A (p.Val995=) c.219G>A (p.Val73=) | |
X | g.49217983A>C | CA412964504 | CACNA1F | c.2951T>G (p.Val984Gly) c.2789T>G (p.Val930Gly) c.2984T>G (p.Val995Gly) c.218T>G (p.Val73Gly) | |
X | g.49217983A>G | CA412964503 | CACNA1F | c.2951T>C (p.Val984Ala) c.2789T>C (p.Val930Ala) c.2984T>C (p.Val995Ala) c.218T>C (p.Val73Ala) | |
X | g.49217983A>T | CA412964502 | CACNA1F | c.2951T>A (p.Val984Glu) c.2789T>A (p.Val930Glu) c.2984T>A (p.Val995Glu) c.218T>A (p.Val73Glu) | |
X | g.49217984C>A | CA412964505 | CACNA1F | c.2950G>T (p.Val984Leu) c.2788G>T (p.Val930Leu) c.2983G>T (p.Val995Leu) c.217G>T (p.Val73Leu) | COSMIC |
X | g.49217984C>G | CA412964506 | CACNA1F | c.2950G>C (p.Val984Leu) c.2788G>C (p.Val930Leu) c.2983G>C (p.Val995Leu) c.217G>C (p.Val73Leu) | |
X | g.49217984C>T | CA412964507 | CACNA1F | c.2950G>A (p.Val984Met) c.2788G>A (p.Val930Met) c.2983G>A (p.Val995Met) c.217G>A (p.Val73Met) | |
X | g.49217985A= | CA2428540239 | CACNA1F | c.2949T= (p.Phe983=) c.2787T= (p.Phe929=) c.2982T= (p.Phe994=) c.216T= (p.Phe72=) | |
X | g.49217985A>C | CA412964508 | CACNA1F | c.2949T>G (p.Phe983Leu) c.2787T>G (p.Phe929Leu) c.2982T>G (p.Phe994Leu) c.216T>G (p.Phe72Leu) | ClinVar dbSNP |
X | g.49217985A>G | CA516377456 | CACNA1F | c.2949T>C (p.Phe983=) c.2787T>C (p.Phe929=) c.2982T>C (p.Phe994=) c.216T>C (p.Phe72=) | |
X | g.49217985A>T | CA412964509 | CACNA1F | c.2949T>A (p.Phe983Leu) c.2787T>A (p.Phe929Leu) c.2982T>A (p.Phe994Leu) c.216T>A (p.Phe72Leu) | |
X | g.49217986A>C | CA412964512 | CACNA1F | c.2948T>G (p.Phe983Cys) c.2786T>G (p.Phe929Cys) c.2981T>G (p.Phe994Cys) c.215T>G (p.Phe72Cys) | |
X | g.49217986A>G | CA412964511 | CACNA1F | c.2948T>C (p.Phe983Ser) c.2786T>C (p.Phe929Ser) c.2981T>C (p.Phe994Ser) c.215T>C (p.Phe72Ser) | |
X | g.49217986A>T | CA412964510 | CACNA1F | c.2948T>A (p.Phe983Tyr) c.2786T>A (p.Phe929Tyr) c.2981T>A (p.Phe994Tyr) c.215T>A (p.Phe72Tyr) | |
X | g.49217987A>C | CA412964513 | CACNA1F | c.2947T>G (p.Phe983Val) c.2785T>G (p.Phe929Val) c.2980T>G (p.Phe994Val) c.214T>G (p.Phe72Val) | |
X | g.49217987A>G | CA412964514 | CACNA1F | c.2947T>C (p.Phe983Leu) c.2785T>C (p.Phe929Leu) c.2980T>C (p.Phe994Leu) c.214T>C (p.Phe72Leu) | |
X | g.49217987A>T | CA412964515 | CACNA1F | c.2947T>A (p.Phe983Ile) c.2785T>A (p.Phe929Ile) c.2980T>A (p.Phe994Ile) c.214T>A (p.Phe72Ile) | |
X | g.49217988T>A | CA516377457 | CACNA1F | c.2946A>T (p.Val982=) c.2784A>T (p.Val928=) c.2979A>T (p.Val993=) c.213A>T (p.Val71=) | |
X | g.49217988T>C | CA516377458 | CACNA1F | c.2946A>G (p.Val982=) c.2784A>G (p.Val928=) c.2979A>G (p.Val993=) c.213A>G (p.Val71=) | |
X | g.49217988T>G | CA516377459 | CACNA1F | c.2946A>C (p.Val982=) c.2784A>C (p.Val928=) c.2979A>C (p.Val993=) c.213A>C (p.Val71=) | |
X | g.49217989A>C | CA412964516 | CACNA1F | c.2945T>G (p.Val982Gly) c.2783T>G (p.Val928Gly) c.2978T>G (p.Val993Gly) c.212T>G (p.Val71Gly) | |
X | g.49217989A>G | CA412964517 | CACNA1F | c.2945T>C (p.Val982Ala) c.2783T>C (p.Val928Ala) c.2978T>C (p.Val993Ala) c.212T>C (p.Val71Ala) | |
X | g.49217989A>T | CA412964518 | CACNA1F | c.2945T>A (p.Val982Glu) c.2783T>A (p.Val928Glu) c.2978T>A (p.Val993Glu) c.212T>A (p.Val71Glu) | COSMIC |
X | g.49217990C>A | CA412964521 | CACNA1F | c.2944G>T (p.Val982Leu) c.2782G>T (p.Val928Leu) c.2977G>T (p.Val993Leu) c.211G>T (p.Val71Leu) | |
X | g.49217990C>G | CA412964519 | CACNA1F | c.2944G>C (p.Val982Leu) c.2782G>C (p.Val928Leu) c.2977G>C (p.Val993Leu) c.211G>C (p.Val71Leu) | |
X | g.49217990C>T | CA412964520 | CACNA1F | c.2944G>A (p.Val982Ile) c.2782G>A (p.Val928Ile) c.2977G>A (p.Val993Ile) c.211G>A (p.Val71Ile) | |
X | g.49217991A>C | CA412964522 | CACNA1F | c.2943T>G (p.Cys981Trp) c.2781T>G (p.Cys927Trp) c.2976T>G (p.Cys992Trp) c.210T>G (p.Cys70Trp) | |
X | g.49217991A>G | CA516377460 | CACNA1F | c.2943T>C (p.Cys981=) c.2781T>C (p.Cys927=) c.2976T>C (p.Cys992=) c.210T>C (p.Cys70=) | |
X | g.49217991A>T | CA412964523 | CACNA1F | c.2943T>A (p.Cys981Ter) c.2781T>A (p.Cys927Ter) c.2976T>A (p.Cys992Ter) c.210T>A (p.Cys70Ter) | |
X | g.49217992C>A | CA412964524 | CACNA1F | c.2942G>T (p.Cys981Phe) c.2780G>T (p.Cys927Phe) c.2975G>T (p.Cys992Phe) c.209G>T (p.Cys70Phe) | |
X | g.49217992C>G | CA412964525 | CACNA1F | c.2942G>C (p.Cys981Ser) c.2780G>C (p.Cys927Ser) c.2975G>C (p.Cys992Ser) c.209G>C (p.Cys70Ser) | |
X | g.49217992C>T | CA412964526 | CACNA1F | c.2942G>A (p.Cys981Tyr) c.2780G>A (p.Cys927Tyr) c.2975G>A (p.Cys992Tyr) c.209G>A (p.Cys70Tyr) | |
X | g.49217993A>C | CA412964527 | CACNA1F | c.2941T>G (p.Cys981Gly) c.2779T>G (p.Cys927Gly) c.2974T>G (p.Cys992Gly) c.208T>G (p.Cys70Gly) | COSMIC |
X | g.49217993A>G | CA412964528 | CACNA1F | c.2941T>C (p.Cys981Arg) c.2779T>C (p.Cys927Arg) c.2974T>C (p.Cys992Arg) c.208T>C (p.Cys70Arg) | |
X | g.49217993A>T | CA412964529 | CACNA1F | c.2941T>A (p.Cys981Ser) c.2779T>A (p.Cys927Ser) c.2974T>A (p.Cys992Ser) c.208T>A (p.Cys70Ser) | |
X | g.49217994C>A | CA412964530 | CACNA1F | c.2940G>T (p.Gln980His) c.2778G>T (p.Gln926His) c.2973G>T (p.Gln991His) c.207G>T (p.Gln69His) | |
X | g.49217994C>G | CA412964531 | CACNA1F | c.2940G>C (p.Gln980His) c.2778G>C (p.Gln926His) c.2973G>C (p.Gln991His) c.207G>C (p.Gln69His) | |
X | g.49217994C>T | CA516377461 | CACNA1F | c.2940G>A (p.Gln980=) c.2778G>A (p.Gln926=) c.2973G>A (p.Gln991=) c.207G>A (p.Gln69=) | |
X | g.49217995T>A | CA412964532 | CACNA1F | c.2939A>T (p.Gln980Leu) c.2777A>T (p.Gln926Leu) c.2972A>T (p.Gln991Leu) c.206A>T (p.Gln69Leu) | |
X | g.49217995T>C | CA412964533 | CACNA1F | c.2939A>G (p.Gln980Arg) c.2777A>G (p.Gln926Arg) c.2972A>G (p.Gln991Arg) c.206A>G (p.Gln69Arg) | |
X | g.49217995T>G | CA412964534 | CACNA1F | c.2939A>C (p.Gln980Pro) c.2777A>C (p.Gln926Pro) c.2972A>C (p.Gln991Pro) c.206A>C (p.Gln69Pro) | |
X | g.49217996G>A | CA412964535 | CACNA1F | c.2938C>T (p.Gln980Ter) c.2776C>T (p.Gln926Ter) c.2971C>T (p.Gln991Ter) c.205C>T (p.Gln69Ter) | gnomAD v4 |
X | g.49217996G>C | CA412964537 | CACNA1F | c.2938C>G (p.Gln980Glu) c.2776C>G (p.Gln926Glu) c.2971C>G (p.Gln991Glu) c.205C>G (p.Gln69Glu) | |
X | g.49217996G>T | CA412964536 | CACNA1F | c.2938C>A (p.Gln980Lys) c.2776C>A (p.Gln926Lys) c.2971C>A (p.Gln991Lys) c.205C>A (p.Gln69Lys) | gnomAD v4 |
X | g.49217997C>A | CA516377464 | CACNA1F | c.2937G>T (p.Val979=) c.2775G>T (p.Val925=) c.2970G>T (p.Val990=) c.204G>T (p.Val68=) | COSMIC |
X | g.49217997C= | CA2428540240 | CACNA1F | c.2937G= (p.Val979=) c.2775G= (p.Val925=) c.2970G= (p.Val990=) c.204G= (p.Val68=) | |
X | g.49217997C>G | CA516377462 | CACNA1F | c.2937G>C (p.Val979=) c.2775G>C (p.Val925=) c.2970G>C (p.Val990=) c.204G>C (p.Val68=) | |
X | g.49217997C>T | CA516377463 | CACNA1F | c.2937G>A (p.Val979=) c.2775G>A (p.Val925=) c.2970G>A (p.Val990=) c.204G>A (p.Val68=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49217998A= | CA2428540241 | CACNA1F | c.2936T= (p.Val979=) c.2774T= (p.Val925=) c.2969T= (p.Val990=) c.203T= (p.Val68=) | |
X | g.49217998A>C | CA412964538 | CACNA1F | c.2936T>G (p.Val979Gly) c.2774T>G (p.Val925Gly) c.2969T>G (p.Val990Gly) c.203T>G (p.Val68Gly) | |
X | g.49217998A>G | CA10410569 | CACNA1F | c.2936T>C (p.Val979Ala) c.2774T>C (p.Val925Ala) c.2969T>C (p.Val990Ala) c.203T>C (p.Val68Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49217998A>T | CA412964539 | CACNA1F | c.2936T>A (p.Val979Glu) c.2774T>A (p.Val925Glu) c.2969T>A (p.Val990Glu) c.203T>A (p.Val68Glu) | |
X | g.49217999C>A | CA412964540 | CACNA1F | c.2935G>T (p.Val979Leu) c.2773G>T (p.Val925Leu) c.2968G>T (p.Val990Leu) c.202G>T (p.Val68Leu) | |
X | g.49217999C>G | CA412964541 | CACNA1F | c.2935G>C (p.Val979Leu) c.2773G>C (p.Val925Leu) c.2968G>C (p.Val990Leu) c.202G>C (p.Val68Leu) | gnomAD v4 |
X | g.49217999C>T | CA412964542 | CACNA1F | c.2935G>A (p.Val979Met) c.2773G>A (p.Val925Met) c.2968G>A (p.Val990Met) c.202G>A (p.Val68Met) | |
X | g.49218000del | CA2693707788 | CACNA1F | c.2935del (p.Val979CysfsTer15) c.2773del (p.Val925CysfsTer15) c.2968del (p.Val990CysfsTer15) c.202del (p.Val68CysfsTer15) | gnomAD v4 |
X | g.49218000C>A | CA516377465 | CACNA1F | c.2934G>T (p.Val978=) c.2772G>T (p.Val924=) c.2967G>T (p.Val989=) c.201G>T (p.Val67=) | gnomAD v4 |
X | g.49218000C>G | CA516377466 | CACNA1F | c.2934G>C (p.Val978=) c.2772G>C (p.Val924=) c.2967G>C (p.Val989=) c.201G>C (p.Val67=) | |
X | g.49218000C>T | CA516377467 | CACNA1F | c.2934G>A (p.Val978=) c.2772G>A (p.Val924=) c.2967G>A (p.Val989=) c.201G>A (p.Val67=) | gnomAD v4 |
X | g.49218001A>C | CA412964545 | CACNA1F | c.2933T>G (p.Val978Gly) c.2771T>G (p.Val924Gly) c.2966T>G (p.Val989Gly) c.200T>G (p.Val67Gly) | |
X | g.49218001A>G | CA412964543 | CACNA1F | c.2933T>C (p.Val978Ala) c.2771T>C (p.Val924Ala) c.2966T>C (p.Val989Ala) c.200T>C (p.Val67Ala) | |
X | g.49218001A>T | CA412964544 | CACNA1F | c.2933T>A (p.Val978Glu) c.2771T>A (p.Val924Glu) c.2966T>A (p.Val989Glu) c.200T>A (p.Val67Glu) | |
X | g.49218002C>A | CA412964546 | CACNA1F | c.2932G>T (p.Val978Leu) c.2770G>T (p.Val924Leu) c.2965G>T (p.Val989Leu) c.199G>T (p.Val67Leu) | |
X | g.49218002C>G | CA412964547 | CACNA1F | c.2932G>C (p.Val978Leu) c.2770G>C (p.Val924Leu) c.2965G>C (p.Val989Leu) c.199G>C (p.Val67Leu) | |
X | g.49218002C>T | CA412964548 | CACNA1F | c.2932G>A (p.Val978Met) c.2770G>A (p.Val924Met) c.2965G>A (p.Val989Met) c.199G>A (p.Val67Met) | gnomAD v4 |
X | g.49218003A= | CA2428540242 | CACNA1F | c.2931T= (p.His977=) c.2769T= (p.His923=) c.2964T= (p.His988=) c.198T= (p.His66=) | |
X | g.49218003A>C | CA412964549 | CACNA1F | c.2931T>G (p.His977Gln) c.2769T>G (p.His923Gln) c.2964T>G (p.His988Gln) c.198T>G (p.His66Gln) | |
X | g.49218003A>G | CA329140797 | CACNA1F | c.2931T>C (p.His977=) c.2769T>C (p.His923=) c.2964T>C (p.His988=) c.198T>C (p.His66=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218003A>T | CA412964550 | CACNA1F | c.2931T>A (p.His977Gln) c.2769T>A (p.His923Gln) c.2964T>A (p.His988Gln) c.198T>A (p.His66Gln) | |
X | g.49218004T>A | CA412964551 | CACNA1F | c.2930A>T (p.His977Leu) c.2768A>T (p.His923Leu) c.2963A>T (p.His988Leu) c.197A>T (p.His66Leu) | |
X | g.49218004T>C | CA412964553 | CACNA1F | c.2930A>G (p.His977Arg) c.2768A>G (p.His923Arg) c.2963A>G (p.His988Arg) c.197A>G (p.His66Arg) | gnomAD v4 |
X | g.49218004T>G | CA412964552 | CACNA1F | c.2930A>C (p.His977Pro) c.2768A>C (p.His923Pro) c.2963A>C (p.His988Pro) c.197A>C (p.His66Pro) | |
X | g.49218005G>A | CA412964554 | CACNA1F | c.2929C>T (p.His977Tyr) c.2767C>T (p.His923Tyr) c.2962C>T (p.His988Tyr) c.196C>T (p.His66Tyr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218005G>C | CA412964555 | CACNA1F | c.2929C>G (p.His977Asp) c.2767C>G (p.His923Asp) c.2962C>G (p.His988Asp) c.196C>G (p.His66Asp) | |
X | g.49218005G= | CA2428540243 | CACNA1F | c.2929C= (p.His977=) c.2767C= (p.His923=) c.2962C= (p.His988=) c.196C= (p.His66=) | |
X | g.49218005G>T | CA412964556 | CACNA1F | c.2929C>A (p.His977Asn) c.2767C>A (p.His923Asn) c.2962C>A (p.His988Asn) c.196C>A (p.His66Asn) | gnomAD v4 |
X | g.49218006C>A | CA412964557 | CACNA1F | c.2929-1G>T (n.2929-1G>T) c.2767-1G>T (n.2767-1G>T) c.2962-1G>T (n.2962-1G>T) c.196-1G>T (n.196-1G>T) | |
X | g.49218006C>G | CA412964558 | CACNA1F | c.2929-1G>C (n.2929-1G>C) c.2767-1G>C (n.2767-1G>C) c.2962-1G>C (n.2962-1G>C) c.196-1G>C (n.196-1G>C) | |
X | g.49218006C>T | CA412964559 | CACNA1F | c.2929-1G>A (n.2929-1G>A) c.2767-1G>A (n.2767-1G>A) c.2962-1G>A (n.2962-1G>A) c.196-1G>A (n.196-1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.49218007T>A | CA412964560 | CACNA1F | c.2929-2A>T (n.2929-2A>T) c.2767-2A>T (n.2767-2A>T) c.2962-2A>T (n.2962-2A>T) c.196-2A>T (n.196-2A>T) | |
X | g.49218007T>C | CA412964561 | CACNA1F | c.2929-2A>G (n.2929-2A>G) c.2767-2A>G (n.2767-2A>G) c.2962-2A>G (n.2962-2A>G) c.196-2A>G (n.196-2A>G) | |
X | g.49218007T>G | CA412964562 | CACNA1F | c.2929-2A>C (n.2929-2A>C) c.2767-2A>C (n.2767-2A>C) c.2962-2A>C (n.2962-2A>C) c.196-2A>C (n.196-2A>C) | |
X | g.49218008G>T | CA2693707815 | CACNA1F | c.2929-3C>A (n.2929-3C>A) c.2767-3C>A (n.2767-3C>A) c.2962-3C>A (n.2962-3C>A) c.196-3C>A (n.196-3C>A) | gnomAD v4 |
X | g.49218008_49218009insACAA | CA2820835526 | CACNA1F | c.2929-4_2929-3insTTGT (n.2929-4_2929-3insTTGT) c.2767-4_2767-3insTTGT (n.2767-4_2767-3insTTGT) c.2962-4_2962-3insTTGT (n.2962-4_2962-3insTTGT) c.196-4_196-3insTTGT (n.196-4_196-3insTTGT) | |
X | g.49218009C= | CA2428540244 | CACNA1F | c.2929-4G= (n.2929-4G=) c.2767-4G= (n.2767-4G=) c.2962-4G= (n.2962-4G=) c.196-4G= (n.196-4G=) | |
X | g.49218009C>G | CA2693707820 | CACNA1F | c.2929-4G>C (n.2929-4G>C) c.2767-4G>C (n.2767-4G>C) c.2962-4G>C (n.2962-4G>C) c.196-4G>C (n.196-4G>C) | gnomAD v4 |
X | g.49218009C>T | CA329140802 | CACNA1F | c.2929-4G>A (n.2929-4G>A) c.2767-4G>A (n.2767-4G>A) c.2962-4G>A (n.2962-4G>A) c.196-4G>A (n.196-4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218010G>A | CA10410570 | CACNA1F | c.2929-5C>T (n.2929-5C>T) c.2767-5C>T (n.2767-5C>T) c.2962-5C>T (n.2962-5C>T) c.196-5C>T (n.196-5C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.49218010G= | CA2428540246 | CACNA1F | c.2929-5C= (n.2929-5C=) c.2767-5C= (n.2767-5C=) c.2962-5C= (n.2962-5C=) c.196-5C= (n.196-5C=) | |
X | g.49218010G>T | CA2428540245 | CACNA1F | c.2929-5C>A (n.2929-5C>A) c.2767-5C>A (n.2767-5C>A) c.2962-5C>A (n.2962-5C>A) c.196-5C>A (n.196-5C>A) | dbSNP |
X | g.49218012del | CA2693707824 | CACNA1F | c.2929-5del (n.2929-5del) c.2767-5del (n.2767-5del) c.2962-5del (n.2962-5del) c.196-5del (n.196-5del) | gnomAD v4 |
X | g.49218011G>A | CA2693707834 | CACNA1F | c.2929-6C>T (n.2929-6C>T) c.2767-6C>T (n.2767-6C>T) c.2962-6C>T (n.2962-6C>T) c.196-6C>T (n.196-6C>T) | gnomAD v4 |
X | g.49218011_49218013del | CA2820835528 | CACNA1F | c.2929-8_2929-6del (n.2929-8_2929-6del) c.2767-8_2767-6del (n.2767-8_2767-6del) c.2962-8_2962-6del (n.2962-8_2962-6del) c.196-8_196-6del (n.196-8_196-6del) | |
X | g.49218012G>A | CA2579607626 | CACNA1F | c.2929-7C>T (n.2929-7C>T) c.2767-7C>T (n.2767-7C>T) c.2962-7C>T (n.2962-7C>T) c.196-7C>T (n.196-7C>T) | gnomAD v4 |
X | g.49218012G>T | CA2693707836 | CACNA1F | c.2929-7C>A (n.2929-7C>A) c.2767-7C>A (n.2767-7C>A) c.2962-7C>A (n.2962-7C>A) c.196-7C>A (n.196-7C>A) | gnomAD v4 |
X | g.49218013C>T | CA2693707838 | CACNA1F | c.2929-8G>A (n.2929-8G>A) c.2767-8G>A (n.2767-8G>A) c.2962-8G>A (n.2962-8G>A) c.196-8G>A (n.196-8G>A) | gnomAD v4 |