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 |
|---|---|---|---|---|---|
| 10 | g.49611935A>C | CA376722235 | CHAT,SLC18A3 | c.1195A>C (p.Thr399Pro) c.-69+2736A>C (n.-69+2736A>C) | |
| 10 | g.49611935A>G | CA376722236 | CHAT,SLC18A3 | c.1195A>G (p.Thr399Ala) c.-69+2736A>G (n.-69+2736A>G) | |
| 10 | g.49611935A>T | CA376722237 | CHAT,SLC18A3 | c.1195A>T (p.Thr399Ser) c.-69+2736A>T (n.-69+2736A>T) | |
| 10 | g.49611936C>A | CA376722238 | CHAT,SLC18A3 | c.1196C>A (p.Thr399Lys) c.-69+2737C>A (n.-69+2737C>A) | |
| 10 | g.49611936C= | CA1908795055 | CHAT,SLC18A3 | c.1196C= (p.Thr399=) c.-69+2737C= (n.-69+2737C=) | |
| 10 | g.49611936C>G | CA5496920 | CHAT,SLC18A3 | c.1196C>G (p.Thr399Arg) c.-69+2737C>G (n.-69+2737C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611936C>T | CA376722239 | CHAT,SLC18A3 | c.1196C>T (p.Thr399Ile) c.-69+2737C>T (n.-69+2737C>T) | COSMIC |
| 10 | g.49611937A>C | CA469791755 | CHAT,SLC18A3 | c.1197A>C (p.Thr399=) c.-69+2738A>C (n.-69+2738A>C) | |
| 10 | g.49611937A>G | CA469791756 | CHAT,SLC18A3 | c.1197A>G (p.Thr399=) c.-69+2738A>G (n.-69+2738A>G) | |
| 10 | g.49611937A>T | CA469791757 | CHAT,SLC18A3 | c.1197A>T (p.Thr399=) c.-69+2738A>T (n.-69+2738A>T) | gnomAD v4 |
| 10 | g.49611938G>A | CA376722240 | CHAT,SLC18A3 | c.1198G>A (p.Ala400Thr) c.-69+2739G>A (n.-69+2739G>A) | |
| 10 | g.49611938G>C | CA376722242 | CHAT,SLC18A3 | c.1198G>C (p.Ala400Pro) c.-69+2739G>C (n.-69+2739G>C) | |
| 10 | g.49611938G>T | CA376722241 | CHAT,SLC18A3 | c.1198G>T (p.Ala400Ser) c.-69+2739G>T (n.-69+2739G>T) | |
| 10 | g.49611939C>A | CA376722243 | CHAT,SLC18A3 | c.1199C>A (p.Ala400Glu) c.-69+2740C>A (n.-69+2740C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611939C= | CA1908795060 | CHAT,SLC18A3 | c.1199C= (p.Ala400=) c.-69+2740C= (n.-69+2740C=) | |
| 10 | g.49611939C>G | CA376722244 | CHAT,SLC18A3 | c.1199C>G (p.Ala400Gly) c.-69+2740C>G (n.-69+2740C>G) | |
| 10 | g.49611939C>T | CA376722245 | CHAT,SLC18A3 | c.1199C>T (p.Ala400Val) c.-69+2740C>T (n.-69+2740C>T) | |
| 10 | g.49611940A= | CA1908795061 | CHAT,SLC18A3 | c.1200A= (p.Ala400=) c.-69+2741A= (n.-69+2741A=) | |
| 10 | g.49611940A>C | CA469791763 | CHAT,SLC18A3 | c.1200A>C (p.Ala400=) c.-69+2741A>C (n.-69+2741A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611940A>G | CA469791766 | CHAT,SLC18A3 | c.1200A>G (p.Ala400=) c.-69+2741A>G (n.-69+2741A>G) | gnomAD v4 |
| 10 | g.49611940A>T | CA469791765 | CHAT,SLC18A3 | c.1200A>T (p.Ala400=) c.-69+2741A>T (n.-69+2741A>T) | ClinVar dbSNP |
| 10 | g.49611941C>A | CA376722246 | CHAT,SLC18A3 | c.1201C>A (p.Leu401Met) c.-69+2742C>A (n.-69+2742C>A) | |
| 10 | g.49611941C>G | CA376722247 | CHAT,SLC18A3 | c.1201C>G (p.Leu401Val) c.-69+2742C>G (n.-69+2742C>G) | gnomAD v4 |
| 10 | g.49611941C>T | CA469791768 | CHAT,SLC18A3 | c.1201C>T (p.Leu401=) c.-69+2742C>T (n.-69+2742C>T) | |
| 10 | g.49611942T>A | CA376722248 | CHAT,SLC18A3 | c.1202T>A (p.Leu401Gln) c.-69+2743T>A (n.-69+2743T>A) | |
| 10 | g.49611942T>C | CA376722249 | CHAT,SLC18A3 | c.1202T>C (p.Leu401Pro) c.-69+2743T>C (n.-69+2743T>C) | |
| 10 | g.49611942T>G | CA376722250 | CHAT,SLC18A3 | c.1202T>G (p.Leu401Arg) c.-69+2743T>G (n.-69+2743T>G) | |
| 10 | g.49611943G>A | CA469791775 | CHAT,SLC18A3 | c.1203G>A (p.Leu401=) c.-69+2744G>A (n.-69+2744G>A) | dbSNP |
| 10 | g.49611943G>C | CA469791774 | CHAT,SLC18A3 | c.1203G>C (p.Leu401=) c.-69+2744G>C (n.-69+2744G>C) | |
| 10 | g.49611943G= | CA1908795064 | CHAT,SLC18A3 | c.1203G= (p.Leu401=) c.-69+2744G= (n.-69+2744G=) | |
| 10 | g.49611943G>T | CA469791773 | CHAT,SLC18A3 | c.1203G>T (p.Leu401=) c.-69+2744G>T (n.-69+2744G>T) | gnomAD v4 |
| 10 | g.49611944C>A | CA376722251 | CHAT,SLC18A3 | c.1204C>A (p.Leu402Met) c.-69+2745C>A (n.-69+2745C>A) | |
| 10 | g.49611944C>G | CA376722252 | CHAT,SLC18A3 | c.1204C>G (p.Leu402Val) c.-69+2745C>G (n.-69+2745C>G) | |
| 10 | g.49611944C>T | CA469791777 | CHAT,SLC18A3 | c.1204C>T (p.Leu402=) c.-69+2745C>T (n.-69+2745C>T) | gnomAD v4 |
| 10 | g.49611945T>A | CA376722255 | CHAT,SLC18A3 | c.1205T>A (p.Leu402Gln) c.-69+2746T>A (n.-69+2746T>A) | |
| 10 | g.49611945T>C | CA376722254 | CHAT,SLC18A3 | c.1205T>C (p.Leu402Pro) c.-69+2746T>C (n.-69+2746T>C) | |
| 10 | g.49611945T>G | CA376722253 | CHAT,SLC18A3 | c.1205T>G (p.Leu402Arg) c.-69+2746T>G (n.-69+2746T>G) | |
| 10 | g.49611946G>A | CA469791782 | CHAT,SLC18A3 | c.1206G>A (p.Leu402=) c.-69+2747G>A (n.-69+2747G>A) | gnomAD v4 |
| 10 | g.49611946G>C | CA469791784 | CHAT,SLC18A3 | c.1206G>C (p.Leu402=) c.-69+2747G>C (n.-69+2747G>C) | |
| 10 | g.49611946G= | CA1908795069 | CHAT,SLC18A3 | c.1206G= (p.Leu402=) c.-69+2747G= (n.-69+2747G=) | |
| 10 | g.49611946G>T | CA469791785 | CHAT,SLC18A3 | c.1206G>T (p.Leu402=) c.-69+2747G>T (n.-69+2747G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611947C>A | CA5496921 | CHAT,SLC18A3 | c.1207C>A (p.Pro403Thr) c.-69+2748C>A (n.-69+2748C>A) | dbSNP ExAC gnomAD v2 |
| 10 | g.49611947C= | CA1908795072 | CHAT,SLC18A3 | c.1207C= (p.Pro403=) c.-69+2748C= (n.-69+2748C=) | |
| 10 | g.49611947C>G | CA376722256 | CHAT,SLC18A3 | c.1207C>G (p.Pro403Ala) c.-69+2748C>G (n.-69+2748C>G) | |
| 10 | g.49611947C>T | CA376722257 | CHAT,SLC18A3 | c.1207C>T (p.Pro403Ser) c.-69+2748C>T (n.-69+2748C>T) | gnomAD v4 |
| 10 | g.49611947_49611950delinsCCCA | CA1908795073 | CHAT,SLC18A3 | c.1207_1210delinsCCCA (p.Pro403=) c.-69+2748_-69+2751delinsCCCA (n.-69+2748_-69+2751delinsCCCA) | |
| 10 | g.49611948C>A | CA376722258 | CHAT,SLC18A3 | c.1208C>A (p.Pro403His) c.-69+2749C>A (n.-69+2749C>A) | |
| 10 | g.49611948C>G | CA376722259 | CHAT,SLC18A3 | c.1208C>G (p.Pro403Arg) c.-69+2749C>G (n.-69+2749C>G) | |
| 10 | g.49611948C>T | CA376722260 | CHAT,SLC18A3 | c.1208C>T (p.Pro403Leu) c.-69+2749C>T (n.-69+2749C>T) | |
| 10 | g.49611949_49611951del | CA1908795077 | CHAT,SLC18A3 | c.1209_1211del (p.Thr404del) c.-69+2750_-69+2752del (n.-69+2750_-69+2752del) | dbSNP |