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 |
|---|---|---|---|---|---|
| 2 | g.24823226T>A | CA346062505 | ADCY3 | c.2869A>T (p.Ile957Phe) c.2866A>T (p.Ile956Phe) n.138A>T c.1807A>T (p.Ile603Phe) c.2935A>T (p.Ile979Phe) c.2992A>T (p.Ile998Phe) c.2989A>T (p.Ile997Phe) c.2926A>T (p.Ile976Phe) c.2854A>T (p.Ile952Phe) c.2794A>T (p.Ile932Phe) c.2326A>T (p.Ile776Phe) c.2269A>T (p.Ile757Phe) c.2932A>T (p.Ile978Phe) c.2923A>T (p.Ile975Phe) c.2851A>T (p.Ile951Phe) c.2728A>T (p.Ile910Phe) c.2356A>T (p.Ile786Phe) c.2146A>T (p.Ile716Phe) c.2143A>T (p.Ile715Phe) c.2332-596A>T (n.2332-596A>T) | |
| 2 | g.24823226T>C | CA346062506 | ADCY3 | c.2869A>G (p.Ile957Val) c.2866A>G (p.Ile956Val) n.138A>G c.1807A>G (p.Ile603Val) c.2935A>G (p.Ile979Val) c.2992A>G (p.Ile998Val) c.2989A>G (p.Ile997Val) c.2926A>G (p.Ile976Val) c.2854A>G (p.Ile952Val) c.2794A>G (p.Ile932Val) c.2326A>G (p.Ile776Val) c.2269A>G (p.Ile757Val) c.2932A>G (p.Ile978Val) c.2923A>G (p.Ile975Val) c.2851A>G (p.Ile951Val) c.2728A>G (p.Ile910Val) c.2356A>G (p.Ile786Val) c.2146A>G (p.Ile716Val) c.2143A>G (p.Ile715Val) c.2332-596A>G (n.2332-596A>G) | dbSNP gnomAD v2 |
| 2 | g.24823226T>G | CA346062507 | ADCY3 | c.2869A>C (p.Ile957Leu) c.2866A>C (p.Ile956Leu) n.138A>C c.1807A>C (p.Ile603Leu) c.2935A>C (p.Ile979Leu) c.2992A>C (p.Ile998Leu) c.2989A>C (p.Ile997Leu) c.2926A>C (p.Ile976Leu) c.2854A>C (p.Ile952Leu) c.2794A>C (p.Ile932Leu) c.2326A>C (p.Ile776Leu) c.2269A>C (p.Ile757Leu) c.2932A>C (p.Ile978Leu) c.2923A>C (p.Ile975Leu) c.2851A>C (p.Ile951Leu) c.2728A>C (p.Ile910Leu) c.2356A>C (p.Ile786Leu) c.2146A>C (p.Ile716Leu) c.2143A>C (p.Ile715Leu) c.2332-596A>C (n.2332-596A>C) | |
| 2 | g.24823226T= | CA1239072269 | ADCY3 | c.2869A= (p.Ile957=) c.2866A= (p.Ile956=) n.138A= c.1807A= (p.Ile603=) c.2935A= (p.Ile979=) c.2992A= (p.Ile998=) c.2989A= (p.Ile997=) c.2926A= (p.Ile976=) c.2854A= (p.Ile952=) c.2794A= (p.Ile932=) c.2326A= (p.Ile776=) c.2269A= (p.Ile757=) c.2932A= (p.Ile978=) c.2923A= (p.Ile975=) c.2851A= (p.Ile951=) c.2728A= (p.Ile910=) c.2356A= (p.Ile786=) c.2146A= (p.Ile716=) c.2143A= (p.Ile715=) c.2332-596A= (n.2332-596A=) | |
| 2 | g.24823227G>A | CA425171940 | ADCY3 | c.2868C>T (p.Ile956=) c.2865C>T (p.Ile955=) n.137C>T c.1806C>T (p.Ile602=) c.2934C>T (p.Ile978=) c.2991C>T (p.Ile997=) c.2988C>T (p.Ile996=) c.2925C>T (p.Ile975=) c.2853C>T (p.Ile951=) c.2793C>T (p.Ile931=) c.2325C>T (p.Ile775=) c.2268C>T (p.Ile756=) c.2931C>T (p.Ile977=) c.2922C>T (p.Ile974=) c.2850C>T (p.Ile950=) c.2727C>T (p.Ile909=) c.2355C>T (p.Ile785=) c.2145C>T (p.Ile715=) c.2142C>T (p.Ile714=) c.2332-597C>T (n.2332-597C>T) | gnomAD v4 |
| 2 | g.24823227G>C | CA346062508 | ADCY3 | c.2868C>G (p.Ile956Met) c.2865C>G (p.Ile955Met) n.137C>G c.1806C>G (p.Ile602Met) c.2934C>G (p.Ile978Met) c.2991C>G (p.Ile997Met) c.2988C>G (p.Ile996Met) c.2925C>G (p.Ile975Met) c.2853C>G (p.Ile951Met) c.2793C>G (p.Ile931Met) c.2325C>G (p.Ile775Met) c.2268C>G (p.Ile756Met) c.2931C>G (p.Ile977Met) c.2922C>G (p.Ile974Met) c.2850C>G (p.Ile950Met) c.2727C>G (p.Ile909Met) c.2355C>G (p.Ile785Met) c.2145C>G (p.Ile715Met) c.2142C>G (p.Ile714Met) c.2332-597C>G (n.2332-597C>G) | |
| 2 | g.24823227G= | CA1239072270 | ADCY3 | c.2868C= (p.Ile956=) c.2865C= (p.Ile955=) n.137C= c.1806C= (p.Ile602=) c.2934C= (p.Ile978=) c.2991C= (p.Ile997=) c.2988C= (p.Ile996=) c.2925C= (p.Ile975=) c.2853C= (p.Ile951=) c.2793C= (p.Ile931=) c.2325C= (p.Ile775=) c.2268C= (p.Ile756=) c.2931C= (p.Ile977=) c.2922C= (p.Ile974=) c.2850C= (p.Ile950=) c.2727C= (p.Ile909=) c.2355C= (p.Ile785=) c.2145C= (p.Ile715=) c.2142C= (p.Ile714=) c.2332-597C= (n.2332-597C=) | |
| 2 | g.24823227G>T | CA43682412 | ADCY3 | c.2868C>A (p.Ile956=) c.2865C>A (p.Ile955=) n.137C>A c.1806C>A (p.Ile602=) c.2934C>A (p.Ile978=) c.2991C>A (p.Ile997=) c.2988C>A (p.Ile996=) c.2925C>A (p.Ile975=) c.2853C>A (p.Ile951=) c.2793C>A (p.Ile931=) c.2325C>A (p.Ile775=) c.2268C>A (p.Ile756=) c.2931C>A (p.Ile977=) c.2922C>A (p.Ile974=) c.2850C>A (p.Ile950=) c.2727C>A (p.Ile909=) c.2355C>A (p.Ile785=) c.2145C>A (p.Ile715=) c.2142C>A (p.Ile714=) c.2332-597C>A (n.2332-597C>A) | dbSNP COSMIC |
| 2 | g.24823228A>C | CA346062511 | ADCY3 | c.2867T>G (p.Ile956Ser) c.2864T>G (p.Ile955Ser) n.136T>G c.1805T>G (p.Ile602Ser) c.2933T>G (p.Ile978Ser) c.2990T>G (p.Ile997Ser) c.2987T>G (p.Ile996Ser) c.2924T>G (p.Ile975Ser) c.2852T>G (p.Ile951Ser) c.2792T>G (p.Ile931Ser) c.2324T>G (p.Ile775Ser) c.2267T>G (p.Ile756Ser) c.2930T>G (p.Ile977Ser) c.2921T>G (p.Ile974Ser) c.2849T>G (p.Ile950Ser) c.2726T>G (p.Ile909Ser) c.2354T>G (p.Ile785Ser) c.2144T>G (p.Ile715Ser) c.2141T>G (p.Ile714Ser) c.2332-598T>G (n.2332-598T>G) | |
| 2 | g.24823228A>G | CA346062510 | ADCY3 | c.2867T>C (p.Ile956Thr) c.2864T>C (p.Ile955Thr) n.136T>C c.1805T>C (p.Ile602Thr) c.2933T>C (p.Ile978Thr) c.2990T>C (p.Ile997Thr) c.2987T>C (p.Ile996Thr) c.2924T>C (p.Ile975Thr) c.2852T>C (p.Ile951Thr) c.2792T>C (p.Ile931Thr) c.2324T>C (p.Ile775Thr) c.2267T>C (p.Ile756Thr) c.2930T>C (p.Ile977Thr) c.2921T>C (p.Ile974Thr) c.2849T>C (p.Ile950Thr) c.2726T>C (p.Ile909Thr) c.2354T>C (p.Ile785Thr) c.2144T>C (p.Ile715Thr) c.2141T>C (p.Ile714Thr) c.2332-598T>C (n.2332-598T>C) | |
| 2 | g.24823228A>T | CA346062509 | ADCY3 | c.2867T>A (p.Ile956Asn) c.2864T>A (p.Ile955Asn) n.136T>A c.1805T>A (p.Ile602Asn) c.2933T>A (p.Ile978Asn) c.2990T>A (p.Ile997Asn) c.2987T>A (p.Ile996Asn) c.2924T>A (p.Ile975Asn) c.2852T>A (p.Ile951Asn) c.2792T>A (p.Ile931Asn) c.2324T>A (p.Ile775Asn) c.2267T>A (p.Ile756Asn) c.2930T>A (p.Ile977Asn) c.2921T>A (p.Ile974Asn) c.2849T>A (p.Ile950Asn) c.2726T>A (p.Ile909Asn) c.2354T>A (p.Ile785Asn) c.2144T>A (p.Ile715Asn) c.2141T>A (p.Ile714Asn) c.2332-598T>A (n.2332-598T>A) | |
| 2 | g.24823229T>A | CA346062515 | ADCY3 | c.2866A>T (p.Ile956Phe) c.2863A>T (p.Ile955Phe) n.135A>T c.1804A>T (p.Ile602Phe) c.2932A>T (p.Ile978Phe) c.2989A>T (p.Ile997Phe) c.2986A>T (p.Ile996Phe) c.2923A>T (p.Ile975Phe) c.2851A>T (p.Ile951Phe) c.2791A>T (p.Ile931Phe) c.2323A>T (p.Ile775Phe) c.2266A>T (p.Ile756Phe) c.2929A>T (p.Ile977Phe) c.2920A>T (p.Ile974Phe) c.2848A>T (p.Ile950Phe) c.2725A>T (p.Ile909Phe) c.2353A>T (p.Ile785Phe) c.2143A>T (p.Ile715Phe) c.2140A>T (p.Ile714Phe) c.2332-599A>T (n.2332-599A>T) | |
| 2 | g.24823229T>C | CA346062513 | ADCY3 | c.2866A>G (p.Ile956Val) c.2863A>G (p.Ile955Val) n.135A>G c.1804A>G (p.Ile602Val) c.2932A>G (p.Ile978Val) c.2989A>G (p.Ile997Val) c.2986A>G (p.Ile996Val) c.2923A>G (p.Ile975Val) c.2851A>G (p.Ile951Val) c.2791A>G (p.Ile931Val) c.2323A>G (p.Ile775Val) c.2266A>G (p.Ile756Val) c.2929A>G (p.Ile977Val) c.2920A>G (p.Ile974Val) c.2848A>G (p.Ile950Val) c.2725A>G (p.Ile909Val) c.2353A>G (p.Ile785Val) c.2143A>G (p.Ile715Val) c.2140A>G (p.Ile714Val) c.2332-599A>G (n.2332-599A>G) | |
| 2 | g.24823229T>G | CA346062514 | ADCY3 | c.2866A>C (p.Ile956Leu) c.2863A>C (p.Ile955Leu) n.135A>C c.1804A>C (p.Ile602Leu) c.2932A>C (p.Ile978Leu) c.2989A>C (p.Ile997Leu) c.2986A>C (p.Ile996Leu) c.2923A>C (p.Ile975Leu) c.2851A>C (p.Ile951Leu) c.2791A>C (p.Ile931Leu) c.2323A>C (p.Ile775Leu) c.2266A>C (p.Ile756Leu) c.2929A>C (p.Ile977Leu) c.2920A>C (p.Ile974Leu) c.2848A>C (p.Ile950Leu) c.2725A>C (p.Ile909Leu) c.2353A>C (p.Ile785Leu) c.2143A>C (p.Ile715Leu) c.2140A>C (p.Ile714Leu) c.2332-599A>C (n.2332-599A>C) | |
| 2 | g.24823230T>A | CA346062517 | ADCY3 | c.2865A>T (p.Glu955Asp) c.2862A>T (p.Glu954Asp) n.134A>T c.1803A>T (p.Glu601Asp) c.2931A>T (p.Glu977Asp) c.2988A>T (p.Glu996Asp) c.2985A>T (p.Glu995Asp) c.2922A>T (p.Glu974Asp) c.2850A>T (p.Glu950Asp) c.2790A>T (p.Glu930Asp) c.2322A>T (p.Glu774Asp) c.2265A>T (p.Glu755Asp) c.2928A>T (p.Glu976Asp) c.2919A>T (p.Glu973Asp) c.2847A>T (p.Glu949Asp) c.2724A>T (p.Glu908Asp) c.2352A>T (p.Glu784Asp) c.2142A>T (p.Glu714Asp) c.2139A>T (p.Glu713Asp) c.2332-600A>T (n.2332-600A>T) | COSMIC |
| 2 | g.24823230T>C | CA1553601 | ADCY3 | c.2865A>G (p.Glu955=) c.2862A>G (p.Glu954=) n.134A>G c.1803A>G (p.Glu601=) c.2931A>G (p.Glu977=) c.2988A>G (p.Glu996=) c.2985A>G (p.Glu995=) c.2922A>G (p.Glu974=) c.2850A>G (p.Glu950=) c.2790A>G (p.Glu930=) c.2322A>G (p.Glu774=) c.2265A>G (p.Glu755=) c.2928A>G (p.Glu976=) c.2919A>G (p.Glu973=) c.2847A>G (p.Glu949=) c.2724A>G (p.Glu908=) c.2352A>G (p.Glu784=) c.2142A>G (p.Glu714=) c.2139A>G (p.Glu713=) c.2332-600A>G (n.2332-600A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.24823230T>G | CA346062519 | ADCY3 | c.2865A>C (p.Glu955Asp) c.2862A>C (p.Glu954Asp) n.134A>C c.1803A>C (p.Glu601Asp) c.2931A>C (p.Glu977Asp) c.2988A>C (p.Glu996Asp) c.2985A>C (p.Glu995Asp) c.2922A>C (p.Glu974Asp) c.2850A>C (p.Glu950Asp) c.2790A>C (p.Glu930Asp) c.2322A>C (p.Glu774Asp) c.2265A>C (p.Glu755Asp) c.2928A>C (p.Glu976Asp) c.2919A>C (p.Glu973Asp) c.2847A>C (p.Glu949Asp) c.2724A>C (p.Glu908Asp) c.2352A>C (p.Glu784Asp) c.2142A>C (p.Glu714Asp) c.2139A>C (p.Glu713Asp) c.2332-600A>C (n.2332-600A>C) | |
| 2 | g.24823230T= | CA1239072271 | ADCY3 | c.2865A= (p.Glu955=) c.2862A= (p.Glu954=) n.134A= c.1803A= (p.Glu601=) c.2931A= (p.Glu977=) c.2988A= (p.Glu996=) c.2985A= (p.Glu995=) c.2922A= (p.Glu974=) c.2850A= (p.Glu950=) c.2790A= (p.Glu930=) c.2322A= (p.Glu774=) c.2265A= (p.Glu755=) c.2928A= (p.Glu976=) c.2919A= (p.Glu973=) c.2847A= (p.Glu949=) c.2724A= (p.Glu908=) c.2352A= (p.Glu784=) c.2142A= (p.Glu714=) c.2139A= (p.Glu713=) c.2332-600A= (n.2332-600A=) | |
| 2 | g.24823231T>A | CA346062521 | ADCY3 | c.2864A>T (p.Glu955Val) c.2861A>T (p.Glu954Val) n.133A>T c.1802A>T (p.Glu601Val) c.2930A>T (p.Glu977Val) c.2987A>T (p.Glu996Val) c.2984A>T (p.Glu995Val) c.2921A>T (p.Glu974Val) c.2849A>T (p.Glu950Val) c.2789A>T (p.Glu930Val) c.2321A>T (p.Glu774Val) c.2264A>T (p.Glu755Val) c.2927A>T (p.Glu976Val) c.2918A>T (p.Glu973Val) c.2846A>T (p.Glu949Val) c.2723A>T (p.Glu908Val) c.2351A>T (p.Glu784Val) c.2141A>T (p.Glu714Val) c.2138A>T (p.Glu713Val) c.2332-601A>T (n.2332-601A>T) | |
| 2 | g.24823231T>C | CA346062522 | ADCY3 | c.2864A>G (p.Glu955Gly) c.2861A>G (p.Glu954Gly) n.133A>G c.1802A>G (p.Glu601Gly) c.2930A>G (p.Glu977Gly) c.2987A>G (p.Glu996Gly) c.2984A>G (p.Glu995Gly) c.2921A>G (p.Glu974Gly) c.2849A>G (p.Glu950Gly) c.2789A>G (p.Glu930Gly) c.2321A>G (p.Glu774Gly) c.2264A>G (p.Glu755Gly) c.2927A>G (p.Glu976Gly) c.2918A>G (p.Glu973Gly) c.2846A>G (p.Glu949Gly) c.2723A>G (p.Glu908Gly) c.2351A>G (p.Glu784Gly) c.2141A>G (p.Glu714Gly) c.2138A>G (p.Glu713Gly) c.2332-601A>G (n.2332-601A>G) | |
| 2 | g.24823231T>G | CA346062524 | ADCY3 | c.2864A>C (p.Glu955Ala) c.2861A>C (p.Glu954Ala) n.133A>C c.1802A>C (p.Glu601Ala) c.2930A>C (p.Glu977Ala) c.2987A>C (p.Glu996Ala) c.2984A>C (p.Glu995Ala) c.2921A>C (p.Glu974Ala) c.2849A>C (p.Glu950Ala) c.2789A>C (p.Glu930Ala) c.2321A>C (p.Glu774Ala) c.2264A>C (p.Glu755Ala) c.2927A>C (p.Glu976Ala) c.2918A>C (p.Glu973Ala) c.2846A>C (p.Glu949Ala) c.2723A>C (p.Glu908Ala) c.2351A>C (p.Glu784Ala) c.2141A>C (p.Glu714Ala) c.2138A>C (p.Glu713Ala) c.2332-601A>C (n.2332-601A>C) | |
| 2 | g.24823232C>A | CA346062525 | ADCY3 | c.2863G>T (p.Glu955Ter) c.2860G>T (p.Glu954Ter) n.132G>T c.1801G>T (p.Glu601Ter) c.2929G>T (p.Glu977Ter) c.2986G>T (p.Glu996Ter) c.2983G>T (p.Glu995Ter) c.2920G>T (p.Glu974Ter) c.2848G>T (p.Glu950Ter) c.2788G>T (p.Glu930Ter) c.2320G>T (p.Glu774Ter) c.2263G>T (p.Glu755Ter) c.2926G>T (p.Glu976Ter) c.2917G>T (p.Glu973Ter) c.2845G>T (p.Glu949Ter) c.2722G>T (p.Glu908Ter) c.2350G>T (p.Glu784Ter) c.2140G>T (p.Glu714Ter) c.2137G>T (p.Glu713Ter) c.2332-602G>T (n.2332-602G>T) | COSMIC |
| 2 | g.24823232C>G | CA346062526 | ADCY3 | c.2863G>C (p.Glu955Gln) c.2860G>C (p.Glu954Gln) n.132G>C c.1801G>C (p.Glu601Gln) c.2929G>C (p.Glu977Gln) c.2986G>C (p.Glu996Gln) c.2983G>C (p.Glu995Gln) c.2920G>C (p.Glu974Gln) c.2848G>C (p.Glu950Gln) c.2788G>C (p.Glu930Gln) c.2320G>C (p.Glu774Gln) c.2263G>C (p.Glu755Gln) c.2926G>C (p.Glu976Gln) c.2917G>C (p.Glu973Gln) c.2845G>C (p.Glu949Gln) c.2722G>C (p.Glu908Gln) c.2350G>C (p.Glu784Gln) c.2140G>C (p.Glu714Gln) c.2137G>C (p.Glu713Gln) c.2332-602G>C (n.2332-602G>C) | |
| 2 | g.24823232C>T | CA346062527 | ADCY3 | c.2863G>A (p.Glu955Lys) c.2860G>A (p.Glu954Lys) n.132G>A c.1801G>A (p.Glu601Lys) c.2929G>A (p.Glu977Lys) c.2986G>A (p.Glu996Lys) c.2983G>A (p.Glu995Lys) c.2920G>A (p.Glu974Lys) c.2848G>A (p.Glu950Lys) c.2788G>A (p.Glu930Lys) c.2320G>A (p.Glu774Lys) c.2263G>A (p.Glu755Lys) c.2926G>A (p.Glu976Lys) c.2917G>A (p.Glu973Lys) c.2845G>A (p.Glu949Lys) c.2722G>A (p.Glu908Lys) c.2350G>A (p.Glu784Lys) c.2140G>A (p.Glu714Lys) c.2137G>A (p.Glu713Lys) c.2332-602G>A (n.2332-602G>A) | |
| 2 | g.24823233A= | CA1239072272 | ADCY3 | c.2862T= (p.Asn954=) c.2859T= (p.Asn953=) n.131T= c.1800T= (p.Asn600=) c.2928T= (p.Asn976=) c.2985T= (p.Asn995=) c.2982T= (p.Asn994=) c.2919T= (p.Asn973=) c.2847T= (p.Asn949=) c.2787T= (p.Asn929=) c.2319T= (p.Asn773=) c.2262T= (p.Asn754=) c.2925T= (p.Asn975=) c.2916T= (p.Asn972=) c.2844T= (p.Asn948=) c.2721T= (p.Asn907=) c.2349T= (p.Asn783=) c.2139T= (p.Asn713=) c.2136T= (p.Asn712=) c.2332-603T= (n.2332-603T=) | |
| 2 | g.24823233A>C | CA346062528 | ADCY3 | c.2862T>G (p.Asn954Lys) c.2859T>G (p.Asn953Lys) n.131T>G c.1800T>G (p.Asn600Lys) c.2928T>G (p.Asn976Lys) c.2985T>G (p.Asn995Lys) c.2982T>G (p.Asn994Lys) c.2919T>G (p.Asn973Lys) c.2847T>G (p.Asn949Lys) c.2787T>G (p.Asn929Lys) c.2319T>G (p.Asn773Lys) c.2262T>G (p.Asn754Lys) c.2925T>G (p.Asn975Lys) c.2916T>G (p.Asn972Lys) c.2844T>G (p.Asn948Lys) c.2721T>G (p.Asn907Lys) c.2349T>G (p.Asn783Lys) c.2139T>G (p.Asn713Lys) c.2136T>G (p.Asn712Lys) c.2332-603T>G (n.2332-603T>G) | |
| 2 | g.24823233A>G | CA425171945 | ADCY3 | c.2862T>C (p.Asn954=) c.2859T>C (p.Asn953=) n.131T>C c.1800T>C (p.Asn600=) c.2928T>C (p.Asn976=) c.2985T>C (p.Asn995=) c.2982T>C (p.Asn994=) c.2919T>C (p.Asn973=) c.2847T>C (p.Asn949=) c.2787T>C (p.Asn929=) c.2319T>C (p.Asn773=) c.2262T>C (p.Asn754=) c.2925T>C (p.Asn975=) c.2916T>C (p.Asn972=) c.2844T>C (p.Asn948=) c.2721T>C (p.Asn907=) c.2349T>C (p.Asn783=) c.2139T>C (p.Asn713=) c.2136T>C (p.Asn712=) c.2332-603T>C (n.2332-603T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24823233A>T | CA346062529 | ADCY3 | c.2862T>A (p.Asn954Lys) c.2859T>A (p.Asn953Lys) n.131T>A c.1800T>A (p.Asn600Lys) c.2928T>A (p.Asn976Lys) c.2985T>A (p.Asn995Lys) c.2982T>A (p.Asn994Lys) c.2919T>A (p.Asn973Lys) c.2847T>A (p.Asn949Lys) c.2787T>A (p.Asn929Lys) c.2319T>A (p.Asn773Lys) c.2262T>A (p.Asn754Lys) c.2925T>A (p.Asn975Lys) c.2916T>A (p.Asn972Lys) c.2844T>A (p.Asn948Lys) c.2721T>A (p.Asn907Lys) c.2349T>A (p.Asn783Lys) c.2139T>A (p.Asn713Lys) c.2136T>A (p.Asn712Lys) c.2332-603T>A (n.2332-603T>A) | |
| 2 | g.24823234T>A | CA346062534 | ADCY3 | c.2861A>T (p.Asn954Ile) c.2858A>T (p.Asn953Ile) n.130A>T c.1799A>T (p.Asn600Ile) c.2927A>T (p.Asn976Ile) c.2984A>T (p.Asn995Ile) c.2981A>T (p.Asn994Ile) c.2918A>T (p.Asn973Ile) c.2846A>T (p.Asn949Ile) c.2786A>T (p.Asn929Ile) c.2318A>T (p.Asn773Ile) c.2261A>T (p.Asn754Ile) c.2924A>T (p.Asn975Ile) c.2915A>T (p.Asn972Ile) c.2843A>T (p.Asn948Ile) c.2720A>T (p.Asn907Ile) c.2348A>T (p.Asn783Ile) c.2138A>T (p.Asn713Ile) c.2135A>T (p.Asn712Ile) c.2332-604A>T (n.2332-604A>T) | |
| 2 | g.24823234T>C | CA346062533 | ADCY3 | c.2861A>G (p.Asn954Ser) c.2858A>G (p.Asn953Ser) n.130A>G c.1799A>G (p.Asn600Ser) c.2927A>G (p.Asn976Ser) c.2984A>G (p.Asn995Ser) c.2981A>G (p.Asn994Ser) c.2918A>G (p.Asn973Ser) c.2846A>G (p.Asn949Ser) c.2786A>G (p.Asn929Ser) c.2318A>G (p.Asn773Ser) c.2261A>G (p.Asn754Ser) c.2924A>G (p.Asn975Ser) c.2915A>G (p.Asn972Ser) c.2843A>G (p.Asn948Ser) c.2720A>G (p.Asn907Ser) c.2348A>G (p.Asn783Ser) c.2138A>G (p.Asn713Ser) c.2135A>G (p.Asn712Ser) c.2332-604A>G (n.2332-604A>G) | |
| 2 | g.24823234T>G | CA346062531 | ADCY3 | c.2861A>C (p.Asn954Thr) c.2858A>C (p.Asn953Thr) n.130A>C c.1799A>C (p.Asn600Thr) c.2927A>C (p.Asn976Thr) c.2984A>C (p.Asn995Thr) c.2981A>C (p.Asn994Thr) c.2918A>C (p.Asn973Thr) c.2846A>C (p.Asn949Thr) c.2786A>C (p.Asn929Thr) c.2318A>C (p.Asn773Thr) c.2261A>C (p.Asn754Thr) c.2924A>C (p.Asn975Thr) c.2915A>C (p.Asn972Thr) c.2843A>C (p.Asn948Thr) c.2720A>C (p.Asn907Thr) c.2348A>C (p.Asn783Thr) c.2138A>C (p.Asn713Thr) c.2135A>C (p.Asn712Thr) c.2332-604A>C (n.2332-604A>C) | |
| 2 | g.24823235del | CA2658139569 | ADCY3 | c.2861del (p.Asn954MetfsTer18) c.2858del (p.Asn953MetfsTer18) n.130del c.1799del (p.Asn600MetfsTer18) c.2927del (p.Asn976MetfsTer18) c.2984del (p.Asn995MetfsTer18) c.2981del (p.Asn994MetfsTer18) c.2918del (p.Asn973MetfsTer18) c.2846del (p.Asn949MetfsTer18) c.2786del (p.Asn929MetfsTer18) c.2318del (p.Asn773MetfsTer18) c.2261del (p.Asn754MetfsTer18) c.2924del (p.Asn975MetfsTer18) c.2915del (p.Asn972MetfsTer18) c.2843del (p.Asn948MetfsTer18) c.2720del (p.Asn907MetfsTer18) c.2348del (p.Asn783MetfsTer18) c.2138del (p.Asn713MetfsTer18) c.2135del (p.Asn712MetfsTer18) c.2332-604del (n.2332-604del) | gnomAD v4 |
| 2 | g.24823235T>A | CA346062536 | ADCY3 | c.2860A>T (p.Asn954Tyr) c.2857A>T (p.Asn953Tyr) n.129A>T c.1798A>T (p.Asn600Tyr) c.2926A>T (p.Asn976Tyr) c.2983A>T (p.Asn995Tyr) c.2980A>T (p.Asn994Tyr) c.2917A>T (p.Asn973Tyr) c.2845A>T (p.Asn949Tyr) c.2785A>T (p.Asn929Tyr) c.2317A>T (p.Asn773Tyr) c.2260A>T (p.Asn754Tyr) c.2923A>T (p.Asn975Tyr) c.2914A>T (p.Asn972Tyr) c.2842A>T (p.Asn948Tyr) c.2719A>T (p.Asn907Tyr) c.2347A>T (p.Asn783Tyr) c.2137A>T (p.Asn713Tyr) c.2134A>T (p.Asn712Tyr) c.2332-605A>T (n.2332-605A>T) | |
| 2 | g.24823235T>C | CA346062537 | ADCY3 | c.2860A>G (p.Asn954Asp) c.2857A>G (p.Asn953Asp) n.129A>G c.1798A>G (p.Asn600Asp) c.2926A>G (p.Asn976Asp) c.2983A>G (p.Asn995Asp) c.2980A>G (p.Asn994Asp) c.2917A>G (p.Asn973Asp) c.2845A>G (p.Asn949Asp) c.2785A>G (p.Asn929Asp) c.2317A>G (p.Asn773Asp) c.2260A>G (p.Asn754Asp) c.2923A>G (p.Asn975Asp) c.2914A>G (p.Asn972Asp) c.2842A>G (p.Asn948Asp) c.2719A>G (p.Asn907Asp) c.2347A>G (p.Asn783Asp) c.2137A>G (p.Asn713Asp) c.2134A>G (p.Asn712Asp) c.2332-605A>G (n.2332-605A>G) | |
| 2 | g.24823235T>G | CA346062538 | ADCY3 | c.2860A>C (p.Asn954His) c.2857A>C (p.Asn953His) n.129A>C c.1798A>C (p.Asn600His) c.2926A>C (p.Asn976His) c.2983A>C (p.Asn995His) c.2980A>C (p.Asn994His) c.2917A>C (p.Asn973His) c.2845A>C (p.Asn949His) c.2785A>C (p.Asn929His) c.2317A>C (p.Asn773His) c.2260A>C (p.Asn754His) c.2923A>C (p.Asn975His) c.2914A>C (p.Asn972His) c.2842A>C (p.Asn948His) c.2719A>C (p.Asn907His) c.2347A>C (p.Asn783His) c.2137A>C (p.Asn713His) c.2134A>C (p.Asn712His) c.2332-605A>C (n.2332-605A>C) | |
| 2 | g.24823236G>A | CA425171949 | ADCY3 | c.2859C>T (p.Leu953=) c.2856C>T (p.Leu952=) n.128C>T c.1797C>T (p.Leu599=) c.2925C>T (p.Leu975=) c.2982C>T (p.Leu994=) c.2979C>T (p.Leu993=) c.2916C>T (p.Leu972=) c.2844C>T (p.Leu948=) c.2784C>T (p.Leu928=) c.2316C>T (p.Leu772=) c.2259C>T (p.Leu753=) c.2922C>T (p.Leu974=) c.2913C>T (p.Leu971=) c.2841C>T (p.Leu947=) c.2718C>T (p.Leu906=) c.2346C>T (p.Leu782=) c.2136C>T (p.Leu712=) c.2133C>T (p.Leu711=) c.2332-606C>T (n.2332-606C>T) | |
| 2 | g.24823236G>C | CA425171950 | ADCY3 | c.2859C>G (p.Leu953=) c.2856C>G (p.Leu952=) n.128C>G c.1797C>G (p.Leu599=) c.2925C>G (p.Leu975=) c.2982C>G (p.Leu994=) c.2979C>G (p.Leu993=) c.2916C>G (p.Leu972=) c.2844C>G (p.Leu948=) c.2784C>G (p.Leu928=) c.2316C>G (p.Leu772=) c.2259C>G (p.Leu753=) c.2922C>G (p.Leu974=) c.2913C>G (p.Leu971=) c.2841C>G (p.Leu947=) c.2718C>G (p.Leu906=) c.2346C>G (p.Leu782=) c.2136C>G (p.Leu712=) c.2133C>G (p.Leu711=) c.2332-606C>G (n.2332-606C>G) | |
| 2 | g.24823236G>T | CA425171948 | ADCY3 | c.2859C>A (p.Leu953=) c.2856C>A (p.Leu952=) n.128C>A c.1797C>A (p.Leu599=) c.2925C>A (p.Leu975=) c.2982C>A (p.Leu994=) c.2979C>A (p.Leu993=) c.2916C>A (p.Leu972=) c.2844C>A (p.Leu948=) c.2784C>A (p.Leu928=) c.2316C>A (p.Leu772=) c.2259C>A (p.Leu753=) c.2922C>A (p.Leu974=) c.2913C>A (p.Leu971=) c.2841C>A (p.Leu947=) c.2718C>A (p.Leu906=) c.2346C>A (p.Leu782=) c.2136C>A (p.Leu712=) c.2133C>A (p.Leu711=) c.2332-606C>A (n.2332-606C>A) | |
| 2 | g.24823237A>C | CA346062540 | ADCY3 | c.2858T>G (p.Leu953Arg) c.2855T>G (p.Leu952Arg) n.127T>G c.1796T>G (p.Leu599Arg) c.2924T>G (p.Leu975Arg) c.2981T>G (p.Leu994Arg) c.2978T>G (p.Leu993Arg) c.2915T>G (p.Leu972Arg) c.2843T>G (p.Leu948Arg) c.2783T>G (p.Leu928Arg) c.2315T>G (p.Leu772Arg) c.2258T>G (p.Leu753Arg) c.2921T>G (p.Leu974Arg) c.2912T>G (p.Leu971Arg) c.2840T>G (p.Leu947Arg) c.2717T>G (p.Leu906Arg) c.2345T>G (p.Leu782Arg) c.2135T>G (p.Leu712Arg) c.2132T>G (p.Leu711Arg) c.2332-607T>G (n.2332-607T>G) | |
| 2 | g.24823237A>G | CA346062542 | ADCY3 | c.2858T>C (p.Leu953Pro) c.2855T>C (p.Leu952Pro) n.127T>C c.1796T>C (p.Leu599Pro) c.2924T>C (p.Leu975Pro) c.2981T>C (p.Leu994Pro) c.2978T>C (p.Leu993Pro) c.2915T>C (p.Leu972Pro) c.2843T>C (p.Leu948Pro) c.2783T>C (p.Leu928Pro) c.2315T>C (p.Leu772Pro) c.2258T>C (p.Leu753Pro) c.2921T>C (p.Leu974Pro) c.2912T>C (p.Leu971Pro) c.2840T>C (p.Leu947Pro) c.2717T>C (p.Leu906Pro) c.2345T>C (p.Leu782Pro) c.2135T>C (p.Leu712Pro) c.2132T>C (p.Leu711Pro) c.2332-607T>C (n.2332-607T>C) | |
| 2 | g.24823237A>T | CA346062543 | ADCY3 | c.2858T>A (p.Leu953His) c.2855T>A (p.Leu952His) n.127T>A c.1796T>A (p.Leu599His) c.2924T>A (p.Leu975His) c.2981T>A (p.Leu994His) c.2978T>A (p.Leu993His) c.2915T>A (p.Leu972His) c.2843T>A (p.Leu948His) c.2783T>A (p.Leu928His) c.2315T>A (p.Leu772His) c.2258T>A (p.Leu753His) c.2921T>A (p.Leu974His) c.2912T>A (p.Leu971His) c.2840T>A (p.Leu947His) c.2717T>A (p.Leu906His) c.2345T>A (p.Leu782His) c.2135T>A (p.Leu712His) c.2132T>A (p.Leu711His) c.2332-607T>A (n.2332-607T>A) | |
| 2 | g.24823238G>A | CA346062545 | ADCY3 | c.2857C>T (p.Leu953Phe) c.2854C>T (p.Leu952Phe) n.126C>T c.1795C>T (p.Leu599Phe) c.2923C>T (p.Leu975Phe) c.2980C>T (p.Leu994Phe) c.2977C>T (p.Leu993Phe) c.2914C>T (p.Leu972Phe) c.2842C>T (p.Leu948Phe) c.2782C>T (p.Leu928Phe) c.2314C>T (p.Leu772Phe) c.2257C>T (p.Leu753Phe) c.2920C>T (p.Leu974Phe) c.2911C>T (p.Leu971Phe) c.2839C>T (p.Leu947Phe) c.2716C>T (p.Leu906Phe) c.2344C>T (p.Leu782Phe) c.2134C>T (p.Leu712Phe) c.2131C>T (p.Leu711Phe) c.2332-608C>T (n.2332-608C>T) | |
| 2 | g.24823238G>C | CA346062546 | ADCY3 | c.2857C>G (p.Leu953Val) c.2854C>G (p.Leu952Val) n.126C>G c.1795C>G (p.Leu599Val) c.2923C>G (p.Leu975Val) c.2980C>G (p.Leu994Val) c.2977C>G (p.Leu993Val) c.2914C>G (p.Leu972Val) c.2842C>G (p.Leu948Val) c.2782C>G (p.Leu928Val) c.2314C>G (p.Leu772Val) c.2257C>G (p.Leu753Val) c.2920C>G (p.Leu974Val) c.2911C>G (p.Leu971Val) c.2839C>G (p.Leu947Val) c.2716C>G (p.Leu906Val) c.2344C>G (p.Leu782Val) c.2134C>G (p.Leu712Val) c.2131C>G (p.Leu711Val) c.2332-608C>G (n.2332-608C>G) | |
| 2 | g.24823238G>T | CA346062547 | ADCY3 | c.2857C>A (p.Leu953Ile) c.2854C>A (p.Leu952Ile) n.126C>A c.1795C>A (p.Leu599Ile) c.2923C>A (p.Leu975Ile) c.2980C>A (p.Leu994Ile) c.2977C>A (p.Leu993Ile) c.2914C>A (p.Leu972Ile) c.2842C>A (p.Leu948Ile) c.2782C>A (p.Leu928Ile) c.2314C>A (p.Leu772Ile) c.2257C>A (p.Leu753Ile) c.2920C>A (p.Leu974Ile) c.2911C>A (p.Leu971Ile) c.2839C>A (p.Leu947Ile) c.2716C>A (p.Leu906Ile) c.2344C>A (p.Leu782Ile) c.2134C>A (p.Leu712Ile) c.2131C>A (p.Leu711Ile) c.2332-608C>A (n.2332-608C>A) | |
| 2 | g.24823239G>A | CA425171955 | ADCY3 | c.2856C>T (p.Phe952=) c.2853C>T (p.Phe951=) n.125C>T c.1794C>T (p.Phe598=) c.2922C>T (p.Phe974=) c.2979C>T (p.Phe993=) c.2976C>T (p.Phe992=) c.2913C>T (p.Phe971=) c.2841C>T (p.Phe947=) c.2781C>T (p.Phe927=) c.2313C>T (p.Phe771=) c.2256C>T (p.Phe752=) c.2919C>T (p.Phe973=) c.2910C>T (p.Phe970=) c.2838C>T (p.Phe946=) c.2715C>T (p.Phe905=) c.2343C>T (p.Phe781=) c.2133C>T (p.Phe711=) c.2130C>T (p.Phe710=) c.2332-609C>T (n.2332-609C>T) | gnomAD v4 |
| 2 | g.24823239G>C | CA346062549 | ADCY3 | c.2856C>G (p.Phe952Leu) c.2853C>G (p.Phe951Leu) n.125C>G c.1794C>G (p.Phe598Leu) c.2922C>G (p.Phe974Leu) c.2979C>G (p.Phe993Leu) c.2976C>G (p.Phe992Leu) c.2913C>G (p.Phe971Leu) c.2841C>G (p.Phe947Leu) c.2781C>G (p.Phe927Leu) c.2313C>G (p.Phe771Leu) c.2256C>G (p.Phe752Leu) c.2919C>G (p.Phe973Leu) c.2910C>G (p.Phe970Leu) c.2838C>G (p.Phe946Leu) c.2715C>G (p.Phe905Leu) c.2343C>G (p.Phe781Leu) c.2133C>G (p.Phe711Leu) c.2130C>G (p.Phe710Leu) c.2332-609C>G (n.2332-609C>G) | |
| 2 | g.24823239G>T | CA346062550 | ADCY3 | c.2856C>A (p.Phe952Leu) c.2853C>A (p.Phe951Leu) n.125C>A c.1794C>A (p.Phe598Leu) c.2922C>A (p.Phe974Leu) c.2979C>A (p.Phe993Leu) c.2976C>A (p.Phe992Leu) c.2913C>A (p.Phe971Leu) c.2841C>A (p.Phe947Leu) c.2781C>A (p.Phe927Leu) c.2313C>A (p.Phe771Leu) c.2256C>A (p.Phe752Leu) c.2919C>A (p.Phe973Leu) c.2910C>A (p.Phe970Leu) c.2838C>A (p.Phe946Leu) c.2715C>A (p.Phe905Leu) c.2343C>A (p.Phe781Leu) c.2133C>A (p.Phe711Leu) c.2130C>A (p.Phe710Leu) c.2332-609C>A (n.2332-609C>A) | |
| 2 | g.24823240A= | CA1239072273 | ADCY3 | c.2855T= (p.Phe952=) c.2852T= (p.Phe951=) n.124T= c.1793T= (p.Phe598=) c.2921T= (p.Phe974=) c.2978T= (p.Phe993=) c.2975T= (p.Phe992=) c.2912T= (p.Phe971=) c.2840T= (p.Phe947=) c.2780T= (p.Phe927=) c.2312T= (p.Phe771=) c.2255T= (p.Phe752=) c.2918T= (p.Phe973=) c.2909T= (p.Phe970=) c.2837T= (p.Phe946=) c.2714T= (p.Phe905=) c.2342T= (p.Phe781=) c.2132T= (p.Phe711=) c.2129T= (p.Phe710=) c.2332-610T= (n.2332-610T=) | |
| 2 | g.24823240A>C | CA1553602 | ADCY3 | c.2855T>G (p.Phe952Cys) c.2852T>G (p.Phe951Cys) n.124T>G c.1793T>G (p.Phe598Cys) c.2921T>G (p.Phe974Cys) c.2978T>G (p.Phe993Cys) c.2975T>G (p.Phe992Cys) c.2912T>G (p.Phe971Cys) c.2840T>G (p.Phe947Cys) c.2780T>G (p.Phe927Cys) c.2312T>G (p.Phe771Cys) c.2255T>G (p.Phe752Cys) c.2918T>G (p.Phe973Cys) c.2909T>G (p.Phe970Cys) c.2837T>G (p.Phe946Cys) c.2714T>G (p.Phe905Cys) c.2342T>G (p.Phe781Cys) c.2132T>G (p.Phe711Cys) c.2129T>G (p.Phe710Cys) c.2332-610T>G (n.2332-610T>G) | dbSNP ExAC |
| 2 | g.24823240A>G | CA346062553 | ADCY3 | c.2855T>C (p.Phe952Ser) c.2852T>C (p.Phe951Ser) n.124T>C c.1793T>C (p.Phe598Ser) c.2921T>C (p.Phe974Ser) c.2978T>C (p.Phe993Ser) c.2975T>C (p.Phe992Ser) c.2912T>C (p.Phe971Ser) c.2840T>C (p.Phe947Ser) c.2780T>C (p.Phe927Ser) c.2312T>C (p.Phe771Ser) c.2255T>C (p.Phe752Ser) c.2918T>C (p.Phe973Ser) c.2909T>C (p.Phe970Ser) c.2837T>C (p.Phe946Ser) c.2714T>C (p.Phe905Ser) c.2342T>C (p.Phe781Ser) c.2132T>C (p.Phe711Ser) c.2129T>C (p.Phe710Ser) c.2332-610T>C (n.2332-610T>C) |