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 |
|---|---|---|---|---|---|
| 7 | g.41965617C>A | CA342943 | GLI3 | c.3456G>T (p.Glu1152Asp) c.3282G>T (p.Glu1094Asp) n.3433G>T c.3279G>T (p.Glu1093Asp) c.3453G>T (p.Glu1151Asp) | dbSNP |
| 7 | g.41965617C= | CA1702660846 | GLI3 | c.3456G= (p.Glu1152=) c.3282G= (p.Glu1094=) n.3433G= c.3279G= (p.Glu1093=) c.3453G= (p.Glu1151=) | |
| 7 | g.41965617C>G | CA156903979 | GLI3 | c.3456G>C (p.Glu1152Asp) c.3282G>C (p.Glu1094Asp) n.3433G>C c.3279G>C (p.Glu1093Asp) c.3453G>C (p.Glu1151Asp) | dbSNP |
| 7 | g.41965617C>T | CA454661948 | GLI3 | c.3456G>A (p.Glu1152=) c.3282G>A (p.Glu1094=) n.3433G>A c.3279G>A (p.Glu1093=) c.3453G>A (p.Glu1151=) | gnomAD v4 |
| 7 | g.41965618T>A | CA367318002 | GLI3 | c.3455A>T (p.Glu1152Val) c.3281A>T (p.Glu1094Val) n.3432A>T c.3278A>T (p.Glu1093Val) c.3452A>T (p.Glu1151Val) | |
| 7 | g.41965618T>C | CA367318003 | GLI3 | c.3455A>G (p.Glu1152Gly) c.3281A>G (p.Glu1094Gly) n.3432A>G c.3278A>G (p.Glu1093Gly) c.3452A>G (p.Glu1151Gly) | |
| 7 | g.41965618T>G | CA367318004 | GLI3 | c.3455A>C (p.Glu1152Ala) c.3281A>C (p.Glu1094Ala) n.3432A>C c.3278A>C (p.Glu1093Ala) c.3452A>C (p.Glu1151Ala) | |
| 7 | g.41965618_41965619delinsTC | CA1702660847 | GLI3 | c.3454_3455delinsGA (p.Glu1152=) c.3280_3281delinsGA (p.Glu1094=) n.3431_3432delinsGA c.3277_3278delinsGA (p.Glu1093=) c.3451_3452delinsGA (p.Glu1151=) | |
| 7 | g.41965619del | CA916082924 | GLI3 | c.3454del (p.Glu1152ArgfsTer?) c.3280del (p.Glu1094ArgfsTer?) n.3431del c.3277del (p.Glu1093ArgfsTer?) c.3451del (p.Glu1151ArgfsTer?) | ClinVar dbSNP |
| 7 | g.41965619C>A | CA367318005 | GLI3 | c.3454G>T (p.Glu1152Ter) c.3280G>T (p.Glu1094Ter) n.3431G>T c.3277G>T (p.Glu1093Ter) c.3451G>T (p.Glu1151Ter) | |
| 7 | g.41965619C= | CA1702660848 | GLI3 | c.3454G= (p.Glu1152=) c.3280G= (p.Glu1094=) n.3431G= c.3277G= (p.Glu1093=) c.3451G= (p.Glu1151=) | |
| 7 | g.41965619C>G | CA156903989 | GLI3 | c.3454G>C (p.Glu1152Gln) c.3280G>C (p.Glu1094Gln) n.3431G>C c.3277G>C (p.Glu1093Gln) c.3451G>C (p.Glu1151Gln) | dbSNP |
| 7 | g.41965619C>T | CA367318006 | GLI3 | c.3454G>A (p.Glu1152Lys) c.3280G>A (p.Glu1094Lys) n.3431G>A c.3277G>A (p.Glu1093Lys) c.3451G>A (p.Glu1151Lys) | dbSNP gnomAD v4 |
| 7 | g.41965620G>A | CA454661949 | GLI3 | c.3453C>T (p.Pro1151=) c.3279C>T (p.Pro1093=) n.3430C>T c.3276C>T (p.Pro1092=) c.3450C>T (p.Pro1150=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965620G>C | CA4230358 | GLI3 | c.3453C>G (p.Pro1151=) c.3279C>G (p.Pro1093=) n.3430C>G c.3276C>G (p.Pro1092=) c.3450C>G (p.Pro1150=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965620G= | CA1702660849 | GLI3 | c.3453C= (p.Pro1151=) c.3279C= (p.Pro1093=) n.3430C= c.3276C= (p.Pro1092=) c.3450C= (p.Pro1150=) | |
| 7 | g.41965620G>T | CA454661950 | GLI3 | c.3453C>A (p.Pro1151=) c.3279C>A (p.Pro1093=) n.3430C>A c.3276C>A (p.Pro1092=) c.3450C>A (p.Pro1150=) | |
| 7 | g.41965623del | CA2775168980 | GLI3 | c.3453del (p.Glu1152ArgfsTer?) c.3279del (p.Glu1094ArgfsTer?) n.3430del c.3276del (p.Glu1093ArgfsTer?) c.3450del (p.Glu1151ArgfsTer?) | |
| 7 | g.41965623_41965639del | CA2573052873 | GLI3 | c.3437_3453del (p.Leu1146ArgfsTer?) c.3263_3279del (p.Leu1088ArgfsTer?) n.3414_3430del c.3260_3276del (p.Leu1087ArgfsTer?) c.3434_3450del (p.Leu1145ArgfsTer?) | ClinVar dbSNP |
| 7 | g.41965621G>A | CA367318007 | GLI3 | c.3452C>T (p.Pro1151Leu) c.3278C>T (p.Pro1093Leu) n.3429C>T c.3275C>T (p.Pro1092Leu) c.3449C>T (p.Pro1150Leu) | |
| 7 | g.41965621G>C | CA367318008 | GLI3 | c.3452C>G (p.Pro1151Arg) c.3278C>G (p.Pro1093Arg) n.3429C>G c.3275C>G (p.Pro1092Arg) c.3449C>G (p.Pro1150Arg) | |
| 7 | g.41965621G>T | CA367318009 | GLI3 | c.3452C>A (p.Pro1151His) c.3278C>A (p.Pro1093His) n.3429C>A c.3275C>A (p.Pro1092His) c.3449C>A (p.Pro1150His) | |
| 7 | g.41965622G>A | CA367318010 | GLI3 | c.3451C>T (p.Pro1151Ser) c.3277C>T (p.Pro1093Ser) n.3428C>T c.3274C>T (p.Pro1092Ser) c.3448C>T (p.Pro1150Ser) | |
| 7 | g.41965622G>C | CA367318011 | GLI3 | c.3451C>G (p.Pro1151Ala) c.3277C>G (p.Pro1093Ala) n.3428C>G c.3274C>G (p.Pro1092Ala) c.3448C>G (p.Pro1150Ala) | |
| 7 | g.41965622G= | CA1702660850 | GLI3 | c.3451C= (p.Pro1151=) c.3277C= (p.Pro1093=) n.3428C= c.3274C= (p.Pro1092=) c.3448C= (p.Pro1150=) | |
| 7 | g.41965622G>T | CA4230359 | GLI3 | c.3451C>A (p.Pro1151Thr) c.3277C>A (p.Pro1093Thr) n.3428C>A c.3274C>A (p.Pro1092Thr) c.3448C>A (p.Pro1150Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965623G>A | CA454661952 | GLI3 | c.3450C>T (p.Cys1150=) c.3276C>T (p.Cys1092=) n.3427C>T c.3273C>T (p.Cys1091=) c.3447C>T (p.Cys1149=) | |
| 7 | g.41965623G>C | CA367318012 | GLI3 | c.3450C>G (p.Cys1150Trp) c.3276C>G (p.Cys1092Trp) n.3427C>G c.3273C>G (p.Cys1091Trp) c.3447C>G (p.Cys1149Trp) | |
| 7 | g.41965623G>T | CA367318013 | GLI3 | c.3450C>A (p.Cys1150Ter) c.3276C>A (p.Cys1092Ter) n.3427C>A c.3273C>A (p.Cys1091Ter) c.3447C>A (p.Cys1149Ter) | |
| 7 | g.41965624C>A | CA4230360 | GLI3 | c.3449G>T (p.Cys1150Phe) c.3275G>T (p.Cys1092Phe) n.3426G>T c.3272G>T (p.Cys1091Phe) c.3446G>T (p.Cys1149Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965624C= | CA1702660851 | GLI3 | c.3449G= (p.Cys1150=) c.3275G= (p.Cys1092=) n.3426G= c.3272G= (p.Cys1091=) c.3446G= (p.Cys1149=) | |
| 7 | g.41965624C>G | CA367318014 | GLI3 | c.3449G>C (p.Cys1150Ser) c.3275G>C (p.Cys1092Ser) n.3426G>C c.3272G>C (p.Cys1091Ser) c.3446G>C (p.Cys1149Ser) | gnomAD v4 |
| 7 | g.41965624C>T | CA367318015 | GLI3 | c.3449G>A (p.Cys1150Tyr) c.3275G>A (p.Cys1092Tyr) n.3426G>A c.3272G>A (p.Cys1091Tyr) c.3446G>A (p.Cys1149Tyr) | |
| 7 | g.41965625A= | CA1702660852 | GLI3 | c.3448T= (p.Cys1150=) c.3274T= (p.Cys1092=) n.3425T= c.3271T= (p.Cys1091=) c.3445T= (p.Cys1149=) | |
| 7 | g.41965625A>C | CA4230361 | GLI3 | c.3448T>G (p.Cys1150Gly) c.3274T>G (p.Cys1092Gly) n.3425T>G c.3271T>G (p.Cys1091Gly) c.3445T>G (p.Cys1149Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965625A>G | CA367318016 | GLI3 | c.3448T>C (p.Cys1150Arg) c.3274T>C (p.Cys1092Arg) n.3425T>C c.3271T>C (p.Cys1091Arg) c.3445T>C (p.Cys1149Arg) | dbSNP |
| 7 | g.41965625A>T | CA367318017 | GLI3 | c.3448T>A (p.Cys1150Ser) c.3274T>A (p.Cys1092Ser) n.3425T>A c.3271T>A (p.Cys1091Ser) c.3445T>A (p.Cys1149Ser) | |
| 7 | g.41965626G>A | CA454661953 | GLI3 | c.3447C>T (p.Pro1149=) c.3273C>T (p.Pro1091=) n.3424C>T c.3270C>T (p.Pro1090=) c.3444C>T (p.Pro1148=) | |
| 7 | g.41965626G>C | CA454661954 | GLI3 | c.3447C>G (p.Pro1149=) c.3273C>G (p.Pro1091=) n.3424C>G c.3270C>G (p.Pro1090=) c.3444C>G (p.Pro1148=) | gnomAD v4 |
| 7 | g.41965626G>T | CA454661955 | GLI3 | c.3447C>A (p.Pro1149=) c.3273C>A (p.Pro1091=) n.3424C>A c.3270C>A (p.Pro1090=) c.3444C>A (p.Pro1148=) | gnomAD v4 |
| 7 | g.41965627G>A | CA367318019 | GLI3 | c.3446C>T (p.Pro1149Leu) c.3272C>T (p.Pro1091Leu) n.3423C>T c.3269C>T (p.Pro1090Leu) c.3443C>T (p.Pro1148Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965627G>C | CA367318020 | GLI3 | c.3446C>G (p.Pro1149Arg) c.3272C>G (p.Pro1091Arg) n.3423C>G c.3269C>G (p.Pro1090Arg) c.3443C>G (p.Pro1148Arg) | |
| 7 | g.41965627G= | CA1702660853 | GLI3 | c.3446C= (p.Pro1149=) c.3272C= (p.Pro1091=) n.3423C= c.3269C= (p.Pro1090=) c.3443C= (p.Pro1148=) | |
| 7 | g.41965627G>T | CA367318018 | GLI3 | c.3446C>A (p.Pro1149His) c.3272C>A (p.Pro1091His) n.3423C>A c.3269C>A (p.Pro1090His) c.3443C>A (p.Pro1148His) | |
| 7 | g.41965630_41965654del | CA2578897274 | GLI3 | c.3422_3446del (p.Gln1141ProfsTer?) c.3248_3272del (p.Gln1083ProfsTer?) n.3399_3423del c.3245_3269del (p.Gln1082ProfsTer?) c.3419_3443del (p.Gln1140ProfsTer?) | |
| 7 | g.41965628G>A | CA367318023 | GLI3 | c.3445C>T (p.Pro1149Ser) c.3271C>T (p.Pro1091Ser) n.3422C>T c.3268C>T (p.Pro1090Ser) c.3442C>T (p.Pro1148Ser) | gnomAD v4 COSMIC |
| 7 | g.41965628G>C | CA367318021 | GLI3 | c.3445C>G (p.Pro1149Ala) c.3271C>G (p.Pro1091Ala) n.3422C>G c.3268C>G (p.Pro1090Ala) c.3442C>G (p.Pro1148Ala) | |
| 7 | g.41965628G>T | CA367318022 | GLI3 | c.3445C>A (p.Pro1149Thr) c.3271C>A (p.Pro1091Thr) n.3422C>A c.3268C>A (p.Pro1090Thr) c.3442C>A (p.Pro1148Thr) | |
| 7 | g.41965629C>A | CA367318024 | GLI3 | c.3444G>T (p.Gln1148His) c.3270G>T (p.Gln1090His) n.3421G>T c.3267G>T (p.Gln1089His) c.3441G>T (p.Gln1147His) | COSMIC |
| 7 | g.41965629C>G | CA367318025 | GLI3 | c.3444G>C (p.Gln1148His) c.3270G>C (p.Gln1090His) n.3421G>C c.3267G>C (p.Gln1089His) c.3441G>C (p.Gln1147His) |