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.41965600A= | CA1702660839 | GLI3 | c.3473T= (p.Leu1158=) c.3299T= (p.Leu1100=) n.3450T= c.3296T= (p.Leu1099=) c.3470T= (p.Leu1157=) | |
| 7 | g.41965600A>C | CA367317964 | GLI3 | c.3473T>G (p.Leu1158Arg) c.3299T>G (p.Leu1100Arg) n.3450T>G c.3296T>G (p.Leu1099Arg) c.3470T>G (p.Leu1157Arg) | |
| 7 | g.41965600A>G | CA4230356 | GLI3 | c.3473T>C (p.Leu1158Pro) c.3299T>C (p.Leu1100Pro) n.3450T>C c.3296T>C (p.Leu1099Pro) c.3470T>C (p.Leu1157Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965600A>T | CA367317965 | GLI3 | c.3473T>A (p.Leu1158Gln) c.3299T>A (p.Leu1100Gln) n.3450T>A c.3296T>A (p.Leu1099Gln) c.3470T>A (p.Leu1157Gln) | |
| 7 | g.41965601G>A | CA454661936 | GLI3 | c.3472C>T (p.Leu1158=) c.3298C>T (p.Leu1100=) n.3449C>T c.3295C>T (p.Leu1099=) c.3469C>T (p.Leu1157=) | COSMIC |
| 7 | g.41965601G>C | CA367317966 | GLI3 | c.3472C>G (p.Leu1158Val) c.3298C>G (p.Leu1100Val) n.3449C>G c.3295C>G (p.Leu1099Val) c.3469C>G (p.Leu1157Val) | |
| 7 | g.41965601G>T | CA367317967 | GLI3 | c.3472C>A (p.Leu1158Met) c.3298C>A (p.Leu1100Met) n.3449C>A c.3295C>A (p.Leu1099Met) c.3469C>A (p.Leu1157Met) | |
| 7 | g.41965602G>A | CA156903951 | GLI3 | c.3471C>T (p.Asp1157=) c.3297C>T (p.Asp1099=) n.3448C>T c.3294C>T (p.Asp1098=) c.3468C>T (p.Asp1156=) | dbSNP gnomAD v4 |
| 7 | g.41965602G>C | CA367317969 | GLI3 | c.3471C>G (p.Asp1157Glu) c.3297C>G (p.Asp1099Glu) n.3448C>G c.3294C>G (p.Asp1098Glu) c.3468C>G (p.Asp1156Glu) | |
| 7 | g.41965602G= | CA1702660840 | GLI3 | c.3471C= (p.Asp1157=) c.3297C= (p.Asp1099=) n.3448C= c.3294C= (p.Asp1098=) c.3468C= (p.Asp1156=) | |
| 7 | g.41965602G>T | CA367317968 | GLI3 | c.3471C>A (p.Asp1157Glu) c.3297C>A (p.Asp1099Glu) n.3448C>A c.3294C>A (p.Asp1098Glu) c.3468C>A (p.Asp1156Glu) | |
| 7 | g.41965603T>A | CA367317970 | GLI3 | c.3470A>T (p.Asp1157Val) c.3296A>T (p.Asp1099Val) n.3447A>T c.3293A>T (p.Asp1098Val) c.3467A>T (p.Asp1156Val) | |
| 7 | g.41965603T>C | CA367317971 | GLI3 | c.3470A>G (p.Asp1157Gly) c.3296A>G (p.Asp1099Gly) n.3447A>G c.3293A>G (p.Asp1098Gly) c.3467A>G (p.Asp1156Gly) | gnomAD v4 |
| 7 | g.41965603T>G | CA367317972 | GLI3 | c.3470A>C (p.Asp1157Ala) c.3296A>C (p.Asp1099Ala) n.3447A>C c.3293A>C (p.Asp1098Ala) c.3467A>C (p.Asp1156Ala) | |
| 7 | g.41965604C>A | CA367317973 | GLI3 | c.3469G>T (p.Asp1157Tyr) c.3295G>T (p.Asp1099Tyr) n.3446G>T c.3292G>T (p.Asp1098Tyr) c.3466G>T (p.Asp1156Tyr) | gnomAD v4 |
| 7 | g.41965604C>G | CA367317974 | GLI3 | c.3469G>C (p.Asp1157His) c.3295G>C (p.Asp1099His) n.3446G>C c.3292G>C (p.Asp1098His) c.3466G>C (p.Asp1156His) | gnomAD v4 |
| 7 | g.41965604C>T | CA367317975 | GLI3 | c.3469G>A (p.Asp1157Asn) c.3295G>A (p.Asp1099Asn) n.3446G>A c.3292G>A (p.Asp1098Asn) c.3466G>A (p.Asp1156Asn) | gnomAD v4 COSMIC |
| 7 | g.41965605G>A | CA454661938 | GLI3 | c.3468C>T (p.Thr1156=) c.3294C>T (p.Thr1098=) n.3445C>T c.3291C>T (p.Thr1097=) c.3465C>T (p.Thr1155=) | dbSNP |
| 7 | g.41965605G>C | CA454661939 | GLI3 | c.3468C>G (p.Thr1156=) c.3294C>G (p.Thr1098=) n.3445C>G c.3291C>G (p.Thr1097=) c.3465C>G (p.Thr1155=) | gnomAD v4 |
| 7 | g.41965605G= | CA1702660841 | GLI3 | c.3468C= (p.Thr1156=) c.3294C= (p.Thr1098=) n.3445C= c.3291C= (p.Thr1097=) c.3465C= (p.Thr1155=) | |
| 7 | g.41965605G>T | CA454661940 | GLI3 | c.3468C>A (p.Thr1156=) c.3294C>A (p.Thr1098=) n.3445C>A c.3291C>A (p.Thr1097=) c.3465C>A (p.Thr1155=) | |
| 7 | g.41965606G>A | CA156903961 | GLI3 | c.3467C>T (p.Thr1156Ile) c.3293C>T (p.Thr1098Ile) n.3444C>T c.3290C>T (p.Thr1097Ile) c.3464C>T (p.Thr1155Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965606G>C | CA367317976 | GLI3 | c.3467C>G (p.Thr1156Ser) c.3293C>G (p.Thr1098Ser) n.3444C>G c.3290C>G (p.Thr1097Ser) c.3464C>G (p.Thr1155Ser) | gnomAD v4 |
| 7 | g.41965606G= | CA1702660842 | GLI3 | c.3467C= (p.Thr1156=) c.3293C= (p.Thr1098=) n.3444C= c.3290C= (p.Thr1097=) c.3464C= (p.Thr1155=) | |
| 7 | g.41965606G>T | CA367317977 | GLI3 | c.3467C>A (p.Thr1156Asn) c.3293C>A (p.Thr1098Asn) n.3444C>A c.3290C>A (p.Thr1097Asn) c.3464C>A (p.Thr1155Asn) | gnomAD v4 |
| 7 | g.41965607T>A | CA4230357 | GLI3 | c.3466A>T (p.Thr1156Ser) c.3292A>T (p.Thr1098Ser) n.3443A>T c.3289A>T (p.Thr1097Ser) c.3463A>T (p.Thr1155Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965607T>C | CA367317978 | GLI3 | c.3466A>G (p.Thr1156Ala) c.3292A>G (p.Thr1098Ala) n.3443A>G c.3289A>G (p.Thr1097Ala) c.3463A>G (p.Thr1155Ala) | gnomAD v4 |
| 7 | g.41965607T>G | CA367317979 | GLI3 | c.3466A>C (p.Thr1156Pro) c.3292A>C (p.Thr1098Pro) n.3443A>C c.3289A>C (p.Thr1097Pro) c.3463A>C (p.Thr1155Pro) | |
| 7 | g.41965607T= | CA1702660843 | GLI3 | c.3466A= (p.Thr1156=) c.3292A= (p.Thr1098=) n.3443A= c.3289A= (p.Thr1097=) c.3463A= (p.Thr1155=) | |
| 7 | g.41965608T>A | CA367317980 | GLI3 | c.3465A>T (p.Lys1155Asn) c.3291A>T (p.Lys1097Asn) n.3442A>T c.3288A>T (p.Lys1096Asn) c.3462A>T (p.Lys1154Asn) | |
| 7 | g.41965608T>C | CA454661941 | GLI3 | c.3465A>G (p.Lys1155=) c.3291A>G (p.Lys1097=) n.3442A>G c.3288A>G (p.Lys1096=) c.3462A>G (p.Lys1154=) | |
| 7 | g.41965608T>G | CA367317981 | GLI3 | c.3465A>C (p.Lys1155Asn) c.3291A>C (p.Lys1097Asn) n.3442A>C c.3288A>C (p.Lys1096Asn) c.3462A>C (p.Lys1154Asn) | |
| 7 | g.41965609T>A | CA367317982 | GLI3 | c.3464A>T (p.Lys1155Ile) c.3290A>T (p.Lys1097Ile) n.3441A>T c.3287A>T (p.Lys1096Ile) c.3461A>T (p.Lys1154Ile) | |
| 7 | g.41965609T>C | CA367317983 | GLI3 | c.3464A>G (p.Lys1155Arg) c.3290A>G (p.Lys1097Arg) n.3441A>G c.3287A>G (p.Lys1096Arg) c.3461A>G (p.Lys1154Arg) | |
| 7 | g.41965609T>G | CA367317984 | GLI3 | c.3464A>C (p.Lys1155Thr) c.3290A>C (p.Lys1097Thr) n.3441A>C c.3287A>C (p.Lys1096Thr) c.3461A>C (p.Lys1154Thr) | |
| 7 | g.41965610T>A | CA367317985 | GLI3 | c.3463A>T (p.Lys1155Ter) c.3289A>T (p.Lys1097Ter) n.3440A>T c.3286A>T (p.Lys1096Ter) c.3460A>T (p.Lys1154Ter) | |
| 7 | g.41965610T>C | CA367317986 | GLI3 | c.3463A>G (p.Lys1155Glu) c.3289A>G (p.Lys1097Glu) n.3440A>G c.3286A>G (p.Lys1096Glu) c.3460A>G (p.Lys1154Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965610T>G | CA367317987 | GLI3 | c.3463A>C (p.Lys1155Gln) c.3289A>C (p.Lys1097Gln) n.3440A>C c.3286A>C (p.Lys1096Gln) c.3460A>C (p.Lys1154Gln) | |
| 7 | g.41965610T= | CA1702660844 | GLI3 | c.3463A= (p.Lys1155=) c.3289A= (p.Lys1097=) n.3440A= c.3286A= (p.Lys1096=) c.3460A= (p.Lys1154=) | |
| 7 | g.41965611G>A | CA454661943 | GLI3 | c.3462C>T (p.Ser1154=) c.3288C>T (p.Ser1096=) n.3439C>T c.3285C>T (p.Ser1095=) c.3459C>T (p.Ser1153=) | |
| 7 | g.41965611G>C | CA367317988 | GLI3 | c.3462C>G (p.Ser1154Arg) c.3288C>G (p.Ser1096Arg) n.3439C>G c.3285C>G (p.Ser1095Arg) c.3459C>G (p.Ser1153Arg) | |
| 7 | g.41965611G>T | CA367317989 | GLI3 | c.3462C>A (p.Ser1154Arg) c.3288C>A (p.Ser1096Arg) n.3439C>A c.3285C>A (p.Ser1095Arg) c.3459C>A (p.Ser1153Arg) | COSMIC |
| 7 | g.41965612C>A | CA367317990 | GLI3 | c.3461G>T (p.Ser1154Ile) c.3287G>T (p.Ser1096Ile) n.3438G>T c.3284G>T (p.Ser1095Ile) c.3458G>T (p.Ser1153Ile) | gnomAD v4 |
| 7 | g.41965612C>G | CA367317991 | GLI3 | c.3461G>C (p.Ser1154Thr) c.3287G>C (p.Ser1096Thr) n.3438G>C c.3284G>C (p.Ser1095Thr) c.3458G>C (p.Ser1153Thr) | |
| 7 | g.41965612C>T | CA367317992 | GLI3 | c.3461G>A (p.Ser1154Asn) c.3287G>A (p.Ser1096Asn) n.3438G>A c.3284G>A (p.Ser1095Asn) c.3458G>A (p.Ser1153Asn) | gnomAD v4 |
| 7 | g.41965613T>A | CA367317994 | GLI3 | c.3460A>T (p.Ser1154Cys) c.3286A>T (p.Ser1096Cys) n.3437A>T c.3283A>T (p.Ser1095Cys) c.3457A>T (p.Ser1153Cys) | |
| 7 | g.41965613T>C | CA367317995 | GLI3 | c.3460A>G (p.Ser1154Gly) c.3286A>G (p.Ser1096Gly) n.3437A>G c.3283A>G (p.Ser1095Gly) c.3457A>G (p.Ser1153Gly) | |
| 7 | g.41965613T>G | CA367317993 | GLI3 | c.3460A>C (p.Ser1154Arg) c.3286A>C (p.Ser1096Arg) n.3437A>C c.3283A>C (p.Ser1095Arg) c.3457A>C (p.Ser1153Arg) | |
| 7 | g.41965614G>A | CA454661947 | GLI3 | c.3459C>T (p.Gly1153=) c.3285C>T (p.Gly1095=) n.3436C>T c.3282C>T (p.Gly1094=) c.3456C>T (p.Gly1152=) | |
| 7 | g.41965614G>C | CA454661945 | GLI3 | c.3459C>G (p.Gly1153=) c.3285C>G (p.Gly1095=) n.3436C>G c.3282C>G (p.Gly1094=) c.3456C>G (p.Gly1152=) | |
| 7 | g.41965614G>T | CA454661946 | GLI3 | c.3459C>A (p.Gly1153=) c.3285C>A (p.Gly1095=) n.3436C>A c.3282C>A (p.Gly1094=) c.3456C>A (p.Gly1152=) | COSMIC |
| 7 | g.41965615C>A | CA367317996 | GLI3 | c.3458G>T (p.Gly1153Val) c.3284G>T (p.Gly1095Val) n.3435G>T c.3281G>T (p.Gly1094Val) c.3455G>T (p.Gly1152Val) | |
| 7 | g.41965615C= | CA1702660845 | GLI3 | c.3458G= (p.Gly1153=) c.3284G= (p.Gly1095=) n.3435G= c.3281G= (p.Gly1094=) c.3455G= (p.Gly1152=) | |
| 7 | g.41965615C>G | CA367317997 | GLI3 | c.3458G>C (p.Gly1153Ala) c.3284G>C (p.Gly1095Ala) n.3435G>C c.3281G>C (p.Gly1094Ala) c.3455G>C (p.Gly1152Ala) | |
| 7 | g.41965615C>T | CA367317998 | GLI3 | c.3458G>A (p.Gly1153Asp) c.3284G>A (p.Gly1095Asp) n.3435G>A c.3281G>A (p.Gly1094Asp) c.3455G>A (p.Gly1152Asp) | dbSNP gnomAD v4 |
| 7 | g.41965616C>A | CA367317999 | GLI3 | c.3457G>T (p.Gly1153Cys) c.3283G>T (p.Gly1095Cys) n.3434G>T c.3280G>T (p.Gly1094Cys) c.3454G>T (p.Gly1152Cys) | |
| 7 | g.41965616C>G | CA367318000 | GLI3 | c.3457G>C (p.Gly1153Arg) c.3283G>C (p.Gly1095Arg) n.3434G>C c.3280G>C (p.Gly1094Arg) c.3454G>C (p.Gly1152Arg) | |
| 7 | g.41965616C>T | CA367318001 | GLI3 | c.3457G>A (p.Gly1153Ser) c.3283G>A (p.Gly1095Ser) n.3434G>A c.3280G>A (p.Gly1094Ser) c.3454G>A (p.Gly1152Ser) | |
| 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) | ClinVar |
| 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) | |
| 7 | g.41965629C>T | CA454661958 | GLI3 | c.3444G>A (p.Gln1148=) c.3270G>A (p.Gln1090=) n.3421G>A c.3267G>A (p.Gln1089=) c.3441G>A (p.Gln1147=) | gnomAD v4 |
| 7 | g.41965630T>A | CA367318026 | GLI3 | c.3443A>T (p.Gln1148Leu) c.3269A>T (p.Gln1090Leu) n.3420A>T c.3266A>T (p.Gln1089Leu) c.3440A>T (p.Gln1147Leu) | |
| 7 | g.41965630T>C | CA367318027 | GLI3 | c.3443A>G (p.Gln1148Arg) c.3269A>G (p.Gln1090Arg) n.3420A>G c.3266A>G (p.Gln1089Arg) c.3440A>G (p.Gln1147Arg) | gnomAD v4 |
| 7 | g.41965630T>G | CA367318028 | GLI3 | c.3443A>C (p.Gln1148Pro) c.3269A>C (p.Gln1090Pro) n.3420A>C c.3266A>C (p.Gln1089Pro) c.3440A>C (p.Gln1147Pro) | |
| 7 | g.41965630_41965646del | CA2695207635 | GLI3 | c.3427_3443del (p.Phe1143AlafsTer?) c.3253_3269del (p.Phe1085AlafsTer?) n.3404_3420del c.3250_3266del (p.Phe1084AlafsTer?) c.3424_3440del (p.Phe1142AlafsTer?) | |
| 7 | g.41965631G>A | CA367318031 | GLI3 | c.3442C>T (p.Gln1148Ter) c.3268C>T (p.Gln1090Ter) n.3419C>T c.3265C>T (p.Gln1089Ter) c.3439C>T (p.Gln1147Ter) | ClinVar |
| 7 | g.41965631G>C | CA367318029 | GLI3 | c.3442C>G (p.Gln1148Glu) c.3268C>G (p.Gln1090Glu) n.3419C>G c.3265C>G (p.Gln1089Glu) c.3439C>G (p.Gln1147Glu) | |
| 7 | g.41965631G>T | CA367318030 | GLI3 | c.3442C>A (p.Gln1148Lys) c.3268C>A (p.Gln1090Lys) n.3419C>A c.3265C>A (p.Gln1089Lys) c.3439C>A (p.Gln1147Lys) | |
| 7 | g.41965632C>A | CA367318032 | GLI3 | c.3441G>T (p.Glu1147Asp) c.3267G>T (p.Glu1089Asp) n.3418G>T c.3264G>T (p.Glu1088Asp) c.3438G>T (p.Glu1146Asp) | |
| 7 | g.41965632C= | CA1702660854 | GLI3 | c.3441G= (p.Glu1147=) c.3267G= (p.Glu1089=) n.3418G= c.3264G= (p.Glu1088=) c.3438G= (p.Glu1146=) | |
| 7 | g.41965632C>G | CA4230362 | GLI3 | c.3441G>C (p.Glu1147Asp) c.3267G>C (p.Glu1089Asp) n.3418G>C c.3264G>C (p.Glu1088Asp) c.3438G>C (p.Glu1146Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965632C>T | CA454661959 | GLI3 | c.3441G>A (p.Glu1147=) c.3267G>A (p.Glu1089=) n.3418G>A c.3264G>A (p.Glu1088=) c.3438G>A (p.Glu1146=) | |
| 7 | g.41965633T>A | CA367318033 | GLI3 | c.3440A>T (p.Glu1147Val) c.3266A>T (p.Glu1089Val) n.3417A>T c.3263A>T (p.Glu1088Val) c.3437A>T (p.Glu1146Val) | |
| 7 | g.41965633T>C | CA367318034 | GLI3 | c.3440A>G (p.Glu1147Gly) c.3266A>G (p.Glu1089Gly) n.3417A>G c.3263A>G (p.Glu1088Gly) c.3437A>G (p.Glu1146Gly) | |
| 7 | g.41965633T>G | CA367318035 | GLI3 | c.3440A>C (p.Glu1147Ala) c.3266A>C (p.Glu1089Ala) n.3417A>C c.3263A>C (p.Glu1088Ala) c.3437A>C (p.Glu1146Ala) | |
| 7 | g.41965634C>A | CA341303 | GLI3 | c.3439G>T (p.Glu1147Ter) c.3265G>T (p.Glu1089Ter) n.3416G>T c.3262G>T (p.Glu1088Ter) c.3436G>T (p.Glu1146Ter) | ClinVar dbSNP |
| 7 | g.41965634C= | CA1702660855 | GLI3 | c.3439G= (p.Glu1147=) c.3265G= (p.Glu1089=) n.3416G= c.3262G= (p.Glu1088=) c.3436G= (p.Glu1146=) | |
| 7 | g.41965634C>G | CA4230363 | GLI3 | c.3439G>C (p.Glu1147Gln) c.3265G>C (p.Glu1089Gln) n.3416G>C c.3262G>C (p.Glu1088Gln) c.3436G>C (p.Glu1146Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965634C>T | CA367318036 | GLI3 | c.3439G>A (p.Glu1147Lys) c.3265G>A (p.Glu1089Lys) n.3416G>A c.3262G>A (p.Glu1088Lys) c.3436G>A (p.Glu1146Lys) | dbSNP gnomAD v4 |
| 7 | g.41965635G>A | CA4230365 | GLI3 | c.3438C>T (p.Leu1146=) c.3264C>T (p.Leu1088=) n.3415C>T c.3261C>T (p.Leu1087=) c.3435C>T (p.Leu1145=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965635G>C | CA4230364 | GLI3 | c.3438C>G (p.Leu1146=) c.3264C>G (p.Leu1088=) n.3415C>G c.3261C>G (p.Leu1087=) c.3435C>G (p.Leu1145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965635G= | CA1702660856 | GLI3 | c.3438C= (p.Leu1146=) c.3264C= (p.Leu1088=) n.3415C= c.3261C= (p.Leu1087=) c.3435C= (p.Leu1145=) | |
| 7 | g.41965635G>T | CA454661963 | GLI3 | c.3438C>A (p.Leu1146=) c.3264C>A (p.Leu1088=) n.3415C>A c.3261C>A (p.Leu1087=) c.3435C>A (p.Leu1145=) | |
| 7 | g.41965636A>C | CA367318037 | GLI3 | c.3437T>G (p.Leu1146Arg) c.3263T>G (p.Leu1088Arg) n.3414T>G c.3260T>G (p.Leu1087Arg) c.3434T>G (p.Leu1145Arg) | COSMIC |
| 7 | g.41965636A>G | CA367318038 | GLI3 | c.3437T>C (p.Leu1146Pro) c.3263T>C (p.Leu1088Pro) n.3414T>C c.3260T>C (p.Leu1087Pro) c.3434T>C (p.Leu1145Pro) | |
| 7 | g.41965636A>T | CA367318039 | GLI3 | c.3437T>A (p.Leu1146His) c.3263T>A (p.Leu1088His) n.3414T>A c.3260T>A (p.Leu1087His) c.3434T>A (p.Leu1145His) | |
| 7 | g.41965637G>A | CA367318040 | GLI3 | c.3436C>T (p.Leu1146Phe) c.3262C>T (p.Leu1088Phe) n.3413C>T c.3259C>T (p.Leu1087Phe) c.3433C>T (p.Leu1145Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965637G>C | CA367318041 | GLI3 | c.3436C>G (p.Leu1146Val) c.3262C>G (p.Leu1088Val) n.3413C>G c.3259C>G (p.Leu1087Val) c.3433C>G (p.Leu1145Val) | |
| 7 | g.41965637G= | CA1702660857 | GLI3 | c.3436C= (p.Leu1146=) c.3262C= (p.Leu1088=) n.3413C= c.3259C= (p.Leu1087=) c.3433C= (p.Leu1145=) | |
| 7 | g.41965637G>T | CA367318042 | GLI3 | c.3436C>A (p.Leu1146Ile) c.3262C>A (p.Leu1088Ile) n.3413C>A c.3259C>A (p.Leu1087Ile) c.3433C>A (p.Leu1145Ile) | |
| 7 | g.41965638G>A | CA4230366 | GLI3 | c.3435C>T (p.Ala1145=) c.3261C>T (p.Ala1087=) n.3412C>T c.3258C>T (p.Ala1086=) c.3432C>T (p.Ala1144=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965638G>C | CA454661965 | GLI3 | c.3435C>G (p.Ala1145=) c.3261C>G (p.Ala1087=) n.3412C>G c.3258C>G (p.Ala1086=) c.3432C>G (p.Ala1144=) | |
| 7 | g.41965638G= | CA1702660858 | GLI3 | c.3435C= (p.Ala1145=) c.3261C= (p.Ala1087=) n.3412C= c.3258C= (p.Ala1086=) c.3432C= (p.Ala1144=) | |
| 7 | g.41965638G>T | CA454661966 | GLI3 | c.3435C>A (p.Ala1145=) c.3261C>A (p.Ala1087=) n.3412C>A c.3258C>A (p.Ala1086=) c.3432C>A (p.Ala1144=) | gnomAD v4 |
| 7 | g.41965639G>A | CA367318043 | GLI3 | c.3434C>T (p.Ala1145Val) c.3260C>T (p.Ala1087Val) n.3411C>T c.3257C>T (p.Ala1086Val) c.3431C>T (p.Ala1144Val) | |
| 7 | g.41965639G>C | CA367318044 | GLI3 | c.3434C>G (p.Ala1145Gly) c.3260C>G (p.Ala1087Gly) n.3411C>G c.3257C>G (p.Ala1086Gly) c.3431C>G (p.Ala1144Gly) | |
| 7 | g.41965639G>T | CA367318045 | GLI3 | c.3434C>A (p.Ala1145Asp) c.3260C>A (p.Ala1087Asp) n.3411C>A c.3257C>A (p.Ala1086Asp) c.3431C>A (p.Ala1144Asp) | |
| 7 | g.41965640C>A | CA367318046 | GLI3 | c.3433G>T (p.Ala1145Ser) c.3259G>T (p.Ala1087Ser) n.3410G>T c.3256G>T (p.Ala1086Ser) c.3430G>T (p.Ala1144Ser) | |
| 7 | g.41965640C>G | CA367318048 | GLI3 | c.3433G>C (p.Ala1145Pro) c.3259G>C (p.Ala1087Pro) n.3410G>C c.3256G>C (p.Ala1086Pro) c.3430G>C (p.Ala1144Pro) | |
| 7 | g.41965640C>T | CA367318047 | GLI3 | c.3433G>A (p.Ala1145Thr) c.3259G>A (p.Ala1087Thr) n.3410G>A c.3256G>A (p.Ala1086Thr) c.3430G>A (p.Ala1144Thr) | |
| 7 | g.41965641A= | CA1702660859 | GLI3 | c.3432T= (p.His1144=) c.3258T= (p.His1086=) n.3409T= c.3255T= (p.His1085=) c.3429T= (p.His1143=) | |
| 7 | g.41965641A>C | CA367318049 | GLI3 | c.3432T>G (p.His1144Gln) c.3258T>G (p.His1086Gln) n.3409T>G c.3255T>G (p.His1085Gln) c.3429T>G (p.His1143Gln) | |
| 7 | g.41965641A>G | CA454661970 | GLI3 | c.3432T>C (p.His1144=) c.3258T>C (p.His1086=) n.3409T>C c.3255T>C (p.His1085=) c.3429T>C (p.His1143=) | |
| 7 | g.41965641A>T | CA4230367 | GLI3 | c.3432T>A (p.His1144Gln) c.3258T>A (p.His1086Gln) n.3409T>A c.3255T>A (p.His1085Gln) c.3429T>A (p.His1143Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965642T>A | CA367318050 | GLI3 | c.3431A>T (p.His1144Leu) c.3257A>T (p.His1086Leu) n.3408A>T c.3254A>T (p.His1085Leu) c.3428A>T (p.His1143Leu) | |
| 7 | g.41965642T>C | CA367318051 | GLI3 | c.3431A>G (p.His1144Arg) c.3257A>G (p.His1086Arg) n.3408A>G c.3254A>G (p.His1085Arg) c.3428A>G (p.His1143Arg) | gnomAD v4 |
| 7 | g.41965642T>G | CA367318052 | GLI3 | c.3431A>C (p.His1144Pro) c.3257A>C (p.His1086Pro) n.3408A>C c.3254A>C (p.His1085Pro) c.3428A>C (p.His1143Pro) | |
| 7 | g.41965643G>A | CA367318053 | GLI3 | c.3430C>T (p.His1144Tyr) c.3256C>T (p.His1086Tyr) n.3407C>T c.3253C>T (p.His1085Tyr) c.3427C>T (p.His1143Tyr) | |
| 7 | g.41965643G>C | CA367318054 | GLI3 | c.3430C>G (p.His1144Asp) c.3256C>G (p.His1086Asp) n.3407C>G c.3253C>G (p.His1085Asp) c.3427C>G (p.His1143Asp) | |
| 7 | g.41965643G>T | CA367318055 | GLI3 | c.3430C>A (p.His1144Asn) c.3256C>A (p.His1086Asn) n.3407C>A c.3253C>A (p.His1085Asn) c.3427C>A (p.His1143Asn) | |
| 7 | g.41965644G>A | CA4230368 | GLI3 | c.3429C>T (p.Phe1143=) c.3255C>T (p.Phe1085=) n.3406C>T c.3252C>T (p.Phe1084=) c.3426C>T (p.Phe1142=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965644G>C | CA367318056 | GLI3 | c.3429C>G (p.Phe1143Leu) c.3255C>G (p.Phe1085Leu) n.3406C>G c.3252C>G (p.Phe1084Leu) c.3426C>G (p.Phe1142Leu) | |
| 7 | g.41965644G= | CA1702660860 | GLI3 | c.3429C= (p.Phe1143=) c.3255C= (p.Phe1085=) n.3406C= c.3252C= (p.Phe1084=) c.3426C= (p.Phe1142=) | |
| 7 | g.41965644G>T | CA367318057 | GLI3 | c.3429C>A (p.Phe1143Leu) c.3255C>A (p.Phe1085Leu) n.3406C>A c.3252C>A (p.Phe1084Leu) c.3426C>A (p.Phe1142Leu) | |
| 7 | g.41965645A>C | CA367318060 | GLI3 | c.3428T>G (p.Phe1143Cys) c.3254T>G (p.Phe1085Cys) n.3405T>G c.3251T>G (p.Phe1084Cys) c.3425T>G (p.Phe1142Cys) | |
| 7 | g.41965645A>G | CA367318059 | GLI3 | c.3428T>C (p.Phe1143Ser) c.3254T>C (p.Phe1085Ser) n.3405T>C c.3251T>C (p.Phe1084Ser) c.3425T>C (p.Phe1142Ser) | |
| 7 | g.41965645A>T | CA367318058 | GLI3 | c.3428T>A (p.Phe1143Tyr) c.3254T>A (p.Phe1085Tyr) n.3405T>A c.3251T>A (p.Phe1084Tyr) c.3425T>A (p.Phe1142Tyr) | gnomAD v4 |
| 7 | g.41965646A>C | CA367318061 | GLI3 | c.3427T>G (p.Phe1143Val) c.3253T>G (p.Phe1085Val) n.3404T>G c.3250T>G (p.Phe1084Val) c.3424T>G (p.Phe1142Val) | |
| 7 | g.41965646A>G | CA367318062 | GLI3 | c.3427T>C (p.Phe1143Leu) c.3253T>C (p.Phe1085Leu) n.3404T>C c.3250T>C (p.Phe1084Leu) c.3424T>C (p.Phe1142Leu) | |
| 7 | g.41965646A>T | CA367318063 | GLI3 | c.3427T>A (p.Phe1143Ile) c.3253T>A (p.Phe1085Ile) n.3404T>A c.3250T>A (p.Phe1084Ile) c.3424T>A (p.Phe1142Ile) | |
| 7 | g.41965647C>A | CA367318064 | GLI3 | c.3426G>T (p.Gln1142His) c.3252G>T (p.Gln1084His) n.3403G>T c.3249G>T (p.Gln1083His) c.3423G>T (p.Gln1141His) | |
| 7 | g.41965647C>G | CA367318065 | GLI3 | c.3426G>C (p.Gln1142His) c.3252G>C (p.Gln1084His) n.3403G>C c.3249G>C (p.Gln1083His) c.3423G>C (p.Gln1141His) | |
| 7 | g.41965647C>T | CA454661976 | GLI3 | c.3426G>A (p.Gln1142=) c.3252G>A (p.Gln1084=) n.3403G>A c.3249G>A (p.Gln1083=) c.3423G>A (p.Gln1141=) | |
| 7 | g.41965648T>A | CA367318066 | GLI3 | c.3425A>T (p.Gln1142Leu) c.3251A>T (p.Gln1084Leu) n.3402A>T c.3248A>T (p.Gln1083Leu) c.3422A>T (p.Gln1141Leu) | |
| 7 | g.41965648T>C | CA367318067 | GLI3 | c.3425A>G (p.Gln1142Arg) c.3251A>G (p.Gln1084Arg) n.3402A>G c.3248A>G (p.Gln1083Arg) c.3422A>G (p.Gln1141Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965648T>G | CA367318068 | GLI3 | c.3425A>C (p.Gln1142Pro) c.3251A>C (p.Gln1084Pro) n.3402A>C c.3248A>C (p.Gln1083Pro) c.3422A>C (p.Gln1141Pro) | |
| 7 | g.41965648T= | CA1702660861 | GLI3 | c.3425A= (p.Gln1142=) c.3251A= (p.Gln1084=) n.3402A= c.3248A= (p.Gln1083=) c.3422A= (p.Gln1141=) | |
| 7 | g.41965649G>A | CA367318069 | GLI3 | c.3424C>T (p.Gln1142Ter) c.3250C>T (p.Gln1084Ter) n.3401C>T c.3247C>T (p.Gln1083Ter) c.3421C>T (p.Gln1141Ter) | |
| 7 | g.41965649G>C | CA367318070 | GLI3 | c.3424C>G (p.Gln1142Glu) c.3250C>G (p.Gln1084Glu) n.3401C>G c.3247C>G (p.Gln1083Glu) c.3421C>G (p.Gln1141Glu) | |
| 7 | g.41965649G>T | CA367318071 | GLI3 | c.3424C>A (p.Gln1142Lys) c.3250C>A (p.Gln1084Lys) n.3401C>A c.3247C>A (p.Gln1083Lys) c.3421C>A (p.Gln1141Lys) | gnomAD v4 |
| 7 | g.41965650C>A | CA367318072 | GLI3 | c.3423G>T (p.Gln1141His) c.3249G>T (p.Gln1083His) n.3400G>T c.3246G>T (p.Gln1082His) c.3420G>T (p.Gln1140His) | |
| 7 | g.41965650C>G | CA367318073 | GLI3 | c.3423G>C (p.Gln1141His) c.3249G>C (p.Gln1083His) n.3400G>C c.3246G>C (p.Gln1082His) c.3420G>C (p.Gln1140His) | |
| 7 | g.41965650C>T | CA454661977 | GLI3 | c.3423G>A (p.Gln1141=) c.3249G>A (p.Gln1083=) n.3400G>A c.3246G>A (p.Gln1082=) c.3420G>A (p.Gln1140=) | |
| 7 | g.41965651T>A | CA367318075 | GLI3 | c.3422A>T (p.Gln1141Leu) c.3248A>T (p.Gln1083Leu) n.3399A>T c.3245A>T (p.Gln1082Leu) c.3419A>T (p.Gln1140Leu) | |
| 7 | g.41965651T>C | CA367318076 | GLI3 | c.3422A>G (p.Gln1141Arg) c.3248A>G (p.Gln1083Arg) n.3399A>G c.3245A>G (p.Gln1082Arg) c.3419A>G (p.Gln1140Arg) | gnomAD v4 |
| 7 | g.41965651T>G | CA367318074 | GLI3 | c.3422A>C (p.Gln1141Pro) c.3248A>C (p.Gln1083Pro) n.3399A>C c.3245A>C (p.Gln1082Pro) c.3419A>C (p.Gln1140Pro) | |
| 7 | g.41965652G>A | CA367318079 | GLI3 | c.3421C>T (p.Gln1141Ter) c.3247C>T (p.Gln1083Ter) n.3398C>T c.3244C>T (p.Gln1082Ter) c.3418C>T (p.Gln1140Ter) | |
| 7 | g.41965652G>C | CA367318077 | GLI3 | c.3421C>G (p.Gln1141Glu) c.3247C>G (p.Gln1083Glu) n.3398C>G c.3244C>G (p.Gln1082Glu) c.3418C>G (p.Gln1140Glu) | |
| 7 | g.41965652G>T | CA367318078 | GLI3 | c.3421C>A (p.Gln1141Lys) c.3247C>A (p.Gln1083Lys) n.3398C>A c.3244C>A (p.Gln1082Lys) c.3418C>A (p.Gln1140Lys) | |
| 7 | g.41965653G>A | CA454661978 | GLI3 | c.3420C>T (p.Gly1140=) c.3246C>T (p.Gly1082=) n.3397C>T c.3243C>T (p.Gly1081=) c.3417C>T (p.Gly1139=) | |
| 7 | g.41965653G>C | CA454661979 | GLI3 | c.3420C>G (p.Gly1140=) c.3246C>G (p.Gly1082=) n.3397C>G c.3243C>G (p.Gly1081=) c.3417C>G (p.Gly1139=) | |
| 7 | g.41965653G>T | CA454661980 | GLI3 | c.3420C>A (p.Gly1140=) c.3246C>A (p.Gly1082=) n.3397C>A c.3243C>A (p.Gly1081=) c.3417C>A (p.Gly1139=) | COSMIC |
| 7 | g.41965654C>A | CA367318080 | GLI3 | c.3419G>T (p.Gly1140Val) c.3245G>T (p.Gly1082Val) n.3396G>T c.3242G>T (p.Gly1081Val) c.3416G>T (p.Gly1139Val) | |
| 7 | g.41965654C>G | CA367318081 | GLI3 | c.3419G>C (p.Gly1140Ala) c.3245G>C (p.Gly1082Ala) n.3396G>C c.3242G>C (p.Gly1081Ala) c.3416G>C (p.Gly1139Ala) | |
| 7 | g.41965654C>T | CA367318082 | GLI3 | c.3419G>A (p.Gly1140Asp) c.3245G>A (p.Gly1082Asp) n.3396G>A c.3242G>A (p.Gly1081Asp) c.3416G>A (p.Gly1139Asp) | gnomAD v4 |
| 7 | g.41965655C>A | CA367318083 | GLI3 | c.3418G>T (p.Gly1140Cys) c.3244G>T (p.Gly1082Cys) n.3395G>T c.3241G>T (p.Gly1081Cys) c.3415G>T (p.Gly1139Cys) | |
| 7 | g.41965655C= | CA1702660862 | GLI3 | c.3418G= (p.Gly1140=) c.3244G= (p.Gly1082=) n.3395G= c.3241G= (p.Gly1081=) c.3415G= (p.Gly1139=) | |
| 7 | g.41965655C>G | CA367318084 | GLI3 | c.3418G>C (p.Gly1140Arg) c.3244G>C (p.Gly1082Arg) n.3395G>C c.3241G>C (p.Gly1081Arg) c.3415G>C (p.Gly1139Arg) | |
| 7 | g.41965655C>T | CA367318085 | GLI3 | c.3418G>A (p.Gly1140Ser) c.3244G>A (p.Gly1082Ser) n.3395G>A c.3241G>A (p.Gly1081Ser) c.3415G>A (p.Gly1139Ser) | dbSNP |
| 7 | g.41965656A>C | CA454661987 | GLI3 | c.3417T>G (p.Ala1139=) c.3243T>G (p.Ala1081=) n.3394T>G c.3240T>G (p.Ala1080=) c.3414T>G (p.Ala1138=) | |
| 7 | g.41965656A>G | CA454661986 | GLI3 | c.3417T>C (p.Ala1139=) c.3243T>C (p.Ala1081=) n.3394T>C c.3240T>C (p.Ala1080=) c.3414T>C (p.Ala1138=) | gnomAD v4 |
| 7 | g.41965656A>T | CA454661985 | GLI3 | c.3417T>A (p.Ala1139=) c.3243T>A (p.Ala1081=) n.3394T>A c.3240T>A (p.Ala1080=) c.3414T>A (p.Ala1138=) | |
| 7 | g.41965657G>A | CA367318086 | GLI3 | c.3416C>T (p.Ala1139Val) c.3242C>T (p.Ala1081Val) n.3393C>T c.3239C>T (p.Ala1080Val) c.3413C>T (p.Ala1138Val) | |
| 7 | g.41965657G>C | CA367318087 | GLI3 | c.3416C>G (p.Ala1139Gly) c.3242C>G (p.Ala1081Gly) n.3393C>G c.3239C>G (p.Ala1080Gly) c.3413C>G (p.Ala1138Gly) | gnomAD v4 |
| 7 | g.41965657G>T | CA367318088 | GLI3 | c.3416C>A (p.Ala1139Asp) c.3242C>A (p.Ala1081Asp) n.3393C>A c.3239C>A (p.Ala1080Asp) c.3413C>A (p.Ala1138Asp) | |
| 7 | g.41965658C>A | CA4230369 | GLI3 | c.3415G>T (p.Ala1139Ser) c.3241G>T (p.Ala1081Ser) n.3392G>T c.3238G>T (p.Ala1080Ser) c.3412G>T (p.Ala1138Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965658C= | CA1702660863 | GLI3 | c.3415G= (p.Ala1139=) c.3241G= (p.Ala1081=) n.3392G= c.3238G= (p.Ala1080=) c.3412G= (p.Ala1138=) | |
| 7 | g.41965658C>G | CA367318089 | GLI3 | c.3415G>C (p.Ala1139Pro) c.3241G>C (p.Ala1081Pro) n.3392G>C c.3238G>C (p.Ala1080Pro) c.3412G>C (p.Ala1138Pro) | |
| 7 | g.41965658C>T | CA156904077 | GLI3 | c.3415G>A (p.Ala1139Thr) c.3241G>A (p.Ala1081Thr) n.3392G>A c.3238G>A (p.Ala1080Thr) c.3412G>A (p.Ala1138Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965658_41965659delinsCG | CA1702660864 | GLI3 | c.3414_3415delinsCG (p.His1138=) c.3240_3241delinsCG (p.His1080=) n.3391_3392delinsCG c.3237_3238delinsCG (p.His1079=) c.3411_3412delinsCG (p.His1137=) | |
| 7 | g.41965659del | CA1139660046 | GLI3 | c.3414del (p.His1138GlnfsTer?) c.3240del (p.His1080GlnfsTer?) n.3391del c.3237del (p.His1079GlnfsTer?) c.3411del (p.His1137GlnfsTer?) | ClinVar dbSNP |
| 7 | g.41965659G>A | CA454661990 | GLI3 | c.3414C>T (p.His1138=) c.3240C>T (p.His1080=) n.3391C>T c.3237C>T (p.His1079=) c.3411C>T (p.His1137=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965659G>C | CA367318090 | GLI3 | c.3414C>G (p.His1138Gln) c.3240C>G (p.His1080Gln) n.3391C>G c.3237C>G (p.His1079Gln) c.3411C>G (p.His1137Gln) | gnomAD v4 |
| 7 | g.41965659G= | CA1702660865 | GLI3 | c.3414C= (p.His1138=) c.3240C= (p.His1080=) n.3391C= c.3237C= (p.His1079=) c.3411C= (p.His1137=) | |
| 7 | g.41965659G>T | CA4230370 | GLI3 | c.3414C>A (p.His1138Gln) c.3240C>A (p.His1080Gln) n.3391C>A c.3237C>A (p.His1079Gln) c.3411C>A (p.His1137Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965660T>A | CA367318091 | GLI3 | c.3413A>T (p.His1138Leu) c.3239A>T (p.His1080Leu) n.3390A>T c.3236A>T (p.His1079Leu) c.3410A>T (p.His1137Leu) | |
| 7 | g.41965660T>C | CA367318092 | GLI3 | c.3413A>G (p.His1138Arg) c.3239A>G (p.His1080Arg) n.3390A>G c.3236A>G (p.His1079Arg) c.3410A>G (p.His1137Arg) | |
| 7 | g.41965660T>G | CA367318093 | GLI3 | c.3413A>C (p.His1138Pro) c.3239A>C (p.His1080Pro) n.3390A>C c.3236A>C (p.His1079Pro) c.3410A>C (p.His1137Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965660T= | CA1702660866 | GLI3 | c.3413A= (p.His1138=) c.3239A= (p.His1080=) n.3390A= c.3236A= (p.His1079=) c.3410A= (p.His1137=) | |
| 7 | g.41965661G>A | CA367318094 | GLI3 | c.3412C>T (p.His1138Tyr) c.3238C>T (p.His1080Tyr) n.3389C>T c.3235C>T (p.His1079Tyr) c.3409C>T (p.His1137Tyr) | |
| 7 | g.41965661G>C | CA367318095 | GLI3 | c.3412C>G (p.His1138Asp) c.3238C>G (p.His1080Asp) n.3389C>G c.3235C>G (p.His1079Asp) c.3409C>G (p.His1137Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965661G= | CA1702660867 | GLI3 | c.3412C= (p.His1138=) c.3238C= (p.His1080=) n.3389C= c.3235C= (p.His1079=) c.3409C= (p.His1137=) | |
| 7 | g.41965661G>T | CA367318096 | GLI3 | c.3412C>A (p.His1138Asn) c.3238C>A (p.His1080Asn) n.3389C>A c.3235C>A (p.His1079Asn) c.3409C>A (p.His1137Asn) | |
| 7 | g.41965662G>A | CA454661992 | GLI3 | c.3411C>T (p.Ser1137=) c.3237C>T (p.Ser1079=) n.3388C>T c.3234C>T (p.Ser1078=) c.3408C>T (p.Ser1136=) | gnomAD v4 |
| 7 | g.41965662G>C | CA367318097 | GLI3 | c.3411C>G (p.Ser1137Arg) c.3237C>G (p.Ser1079Arg) n.3388C>G c.3234C>G (p.Ser1078Arg) c.3408C>G (p.Ser1136Arg) | |
| 7 | g.41965662G= | CA1702660868 | GLI3 | c.3411C= (p.Ser1137=) c.3237C= (p.Ser1079=) n.3388C= c.3234C= (p.Ser1078=) c.3408C= (p.Ser1136=) | |
| 7 | g.41965662G>T | CA156904100 | GLI3 | c.3411C>A (p.Ser1137Arg) c.3237C>A (p.Ser1079Arg) n.3388C>A c.3234C>A (p.Ser1078Arg) c.3408C>A (p.Ser1136Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965663C>A | CA367318098 | GLI3 | c.3410G>T (p.Ser1137Ile) c.3236G>T (p.Ser1079Ile) n.3387G>T c.3233G>T (p.Ser1078Ile) c.3407G>T (p.Ser1136Ile) | |
| 7 | g.41965663C>G | CA367318099 | GLI3 | c.3410G>C (p.Ser1137Thr) c.3236G>C (p.Ser1079Thr) n.3387G>C c.3233G>C (p.Ser1078Thr) c.3407G>C (p.Ser1136Thr) | |
| 7 | g.41965663C>T | CA367318100 | GLI3 | c.3410G>A (p.Ser1137Asn) c.3236G>A (p.Ser1079Asn) n.3387G>A c.3233G>A (p.Ser1078Asn) c.3407G>A (p.Ser1136Asn) | |
| 7 | g.41965664T>A | CA367318101 | GLI3 | c.3409A>T (p.Ser1137Cys) c.3235A>T (p.Ser1079Cys) n.3386A>T c.3232A>T (p.Ser1078Cys) c.3406A>T (p.Ser1136Cys) | |
| 7 | g.41965664T>C | CA367318102 | GLI3 | c.3409A>G (p.Ser1137Gly) c.3235A>G (p.Ser1079Gly) n.3386A>G c.3232A>G (p.Ser1078Gly) c.3406A>G (p.Ser1136Gly) | |
| 7 | g.41965664T>G | CA367318103 | GLI3 | c.3409A>C (p.Ser1137Arg) c.3235A>C (p.Ser1079Arg) n.3386A>C c.3232A>C (p.Ser1078Arg) c.3406A>C (p.Ser1136Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965664T= | CA1702660869 | GLI3 | c.3409A= (p.Ser1137=) c.3235A= (p.Ser1079=) n.3386A= c.3232A= (p.Ser1078=) c.3406A= (p.Ser1136=) | |
| 7 | g.41965665G>A | CA454661995 | GLI3 | c.3408C>T (p.Asp1136=) c.3234C>T (p.Asp1078=) n.3385C>T c.3231C>T (p.Asp1077=) c.3405C>T (p.Asp1135=) | |
| 7 | g.41965665G>C | CA367318104 | GLI3 | c.3408C>G (p.Asp1136Glu) c.3234C>G (p.Asp1078Glu) n.3385C>G c.3231C>G (p.Asp1077Glu) c.3405C>G (p.Asp1135Glu) | gnomAD v4 |
| 7 | g.41965665G>T | CA367318105 | GLI3 | c.3408C>A (p.Asp1136Glu) c.3234C>A (p.Asp1078Glu) n.3385C>A c.3231C>A (p.Asp1077Glu) c.3405C>A (p.Asp1135Glu) | |
| 7 | g.41965666T>A | CA367318106 | GLI3 | c.3407A>T (p.Asp1136Val) c.3233A>T (p.Asp1078Val) n.3384A>T c.3230A>T (p.Asp1077Val) c.3404A>T (p.Asp1135Val) | gnomAD v4 |
| 7 | g.41965666T>C | CA367318108 | GLI3 | c.3407A>G (p.Asp1136Gly) c.3233A>G (p.Asp1078Gly) n.3384A>G c.3230A>G (p.Asp1077Gly) c.3404A>G (p.Asp1135Gly) | |
| 7 | g.41965666T>G | CA367318107 | GLI3 | c.3407A>C (p.Asp1136Ala) c.3233A>C (p.Asp1078Ala) n.3384A>C c.3230A>C (p.Asp1077Ala) c.3404A>C (p.Asp1135Ala) | |
| 7 | g.41965667C>A | CA367318109 | GLI3 | c.3406G>T (p.Asp1136Tyr) c.3232G>T (p.Asp1078Tyr) n.3383G>T c.3229G>T (p.Asp1077Tyr) c.3403G>T (p.Asp1135Tyr) | |
| 7 | g.41965667C>G | CA367318110 | GLI3 | c.3406G>C (p.Asp1136His) c.3232G>C (p.Asp1078His) n.3383G>C c.3229G>C (p.Asp1077His) c.3403G>C (p.Asp1135His) | |
| 7 | g.41965667C>T | CA367318111 | GLI3 | c.3406G>A (p.Asp1136Asn) c.3232G>A (p.Asp1078Asn) n.3383G>A c.3229G>A (p.Asp1077Asn) c.3403G>A (p.Asp1135Asn) | |
| 7 | g.41965668T>A | CA454661996 | GLI3 | c.3405A>T (p.Pro1135=) c.3231A>T (p.Pro1077=) n.3382A>T c.3228A>T (p.Pro1076=) c.3402A>T (p.Pro1134=) | ClinVar dbSNP |
| 7 | g.41965668T>C | CA454661997 | GLI3 | c.3405A>G (p.Pro1135=) c.3231A>G (p.Pro1077=) n.3382A>G c.3228A>G (p.Pro1076=) c.3402A>G (p.Pro1134=) | dbSNP gnomAD v4 |
| 7 | g.41965668T>G | CA454661999 | GLI3 | c.3405A>C (p.Pro1135=) c.3231A>C (p.Pro1077=) n.3382A>C c.3228A>C (p.Pro1076=) c.3402A>C (p.Pro1134=) | |
| 7 | g.41965668T= | CA1702660870 | GLI3 | c.3405A= (p.Pro1135=) c.3231A= (p.Pro1077=) n.3382A= c.3228A= (p.Pro1076=) c.3402A= (p.Pro1134=) | |
| 7 | g.41965669G>A | CA367318112 | GLI3 | c.3404C>T (p.Pro1135Leu) c.3230C>T (p.Pro1077Leu) n.3381C>T c.3227C>T (p.Pro1076Leu) c.3401C>T (p.Pro1134Leu) | |
| 7 | g.41965669G>C | CA367318113 | GLI3 | c.3404C>G (p.Pro1135Arg) c.3230C>G (p.Pro1077Arg) n.3381C>G c.3227C>G (p.Pro1076Arg) c.3401C>G (p.Pro1134Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965669G= | CA1702660871 | GLI3 | c.3404C= (p.Pro1135=) c.3230C= (p.Pro1077=) n.3381C= c.3227C= (p.Pro1076=) c.3401C= (p.Pro1134=) | |
| 7 | g.41965669G>T | CA367318114 | GLI3 | c.3404C>A (p.Pro1135Gln) c.3230C>A (p.Pro1077Gln) n.3381C>A c.3227C>A (p.Pro1076Gln) c.3401C>A (p.Pro1134Gln) | |
| 7 | g.41965670G>A | CA367318115 | GLI3 | c.3403C>T (p.Pro1135Ser) c.3229C>T (p.Pro1077Ser) n.3380C>T c.3226C>T (p.Pro1076Ser) c.3400C>T (p.Pro1134Ser) | gnomAD v4 |
| 7 | g.41965670G>C | CA367318116 | GLI3 | c.3403C>G (p.Pro1135Ala) c.3229C>G (p.Pro1077Ala) n.3380C>G c.3226C>G (p.Pro1076Ala) c.3400C>G (p.Pro1134Ala) | |
| 7 | g.41965670G>T | CA367318117 | GLI3 | c.3403C>A (p.Pro1135Thr) c.3229C>A (p.Pro1077Thr) n.3380C>A c.3226C>A (p.Pro1076Thr) c.3400C>A (p.Pro1134Thr) | |
| 7 | g.41965671C>A | CA454662001 | GLI3 | c.3402G>T (p.Leu1134=) c.3228G>T (p.Leu1076=) n.3379G>T c.3225G>T (p.Leu1075=) c.3399G>T (p.Leu1133=) | |
| 7 | g.41965671C>G | CA454662002 | GLI3 | c.3402G>C (p.Leu1134=) c.3228G>C (p.Leu1076=) n.3379G>C c.3225G>C (p.Leu1075=) c.3399G>C (p.Leu1133=) | |
| 7 | g.41965671C>T | CA454662003 | GLI3 | c.3402G>A (p.Leu1134=) c.3228G>A (p.Leu1076=) n.3379G>A c.3225G>A (p.Leu1075=) c.3399G>A (p.Leu1133=) | |
| 7 | g.41965672A>C | CA367318118 | GLI3 | c.3401T>G (p.Leu1134Arg) c.3227T>G (p.Leu1076Arg) n.3378T>G c.3224T>G (p.Leu1075Arg) c.3398T>G (p.Leu1133Arg) | |
| 7 | g.41965672A>G | CA367318119 | GLI3 | c.3401T>C (p.Leu1134Pro) c.3227T>C (p.Leu1076Pro) n.3378T>C c.3224T>C (p.Leu1075Pro) c.3398T>C (p.Leu1133Pro) | gnomAD v4 |
| 7 | g.41965672A>T | CA367318120 | GLI3 | c.3401T>A (p.Leu1134Gln) c.3227T>A (p.Leu1076Gln) n.3378T>A c.3224T>A (p.Leu1075Gln) c.3398T>A (p.Leu1133Gln) | |
| 7 | g.41965673G>A | CA454662004 | GLI3 | c.3400C>T (p.Leu1134=) c.3226C>T (p.Leu1076=) n.3377C>T c.3223C>T (p.Leu1075=) c.3397C>T (p.Leu1133=) | ClinVar gnomAD v4 |
| 7 | g.41965673G>C | CA367318121 | GLI3 | c.3400C>G (p.Leu1134Val) c.3226C>G (p.Leu1076Val) n.3377C>G c.3223C>G (p.Leu1075Val) c.3397C>G (p.Leu1133Val) | |
| 7 | g.41965673G>T | CA367318122 | GLI3 | c.3400C>A (p.Leu1134Met) c.3226C>A (p.Leu1076Met) n.3377C>A c.3223C>A (p.Leu1075Met) c.3397C>A (p.Leu1133Met) | |
| 7 | g.41965674C>A | CA454662006 | GLI3 | c.3399G>T (p.Gly1133=) c.3225G>T (p.Gly1075=) n.3376G>T c.3222G>T (p.Gly1074=) c.3396G>T (p.Gly1132=) | |
| 7 | g.41965674C>G | CA454662007 | GLI3 | c.3399G>C (p.Gly1133=) c.3225G>C (p.Gly1075=) n.3376G>C c.3222G>C (p.Gly1074=) c.3396G>C (p.Gly1132=) | |
| 7 | g.41965674C>T | CA454662008 | GLI3 | c.3399G>A (p.Gly1133=) c.3225G>A (p.Gly1075=) n.3376G>A c.3222G>A (p.Gly1074=) c.3396G>A (p.Gly1132=) | |
| 7 | g.41965675C>A | CA367318123 | GLI3 | c.3398G>T (p.Gly1133Val) c.3224G>T (p.Gly1075Val) n.3375G>T c.3221G>T (p.Gly1074Val) c.3395G>T (p.Gly1132Val) | |
| 7 | g.41965675C>G | CA367318124 | GLI3 | c.3398G>C (p.Gly1133Ala) c.3224G>C (p.Gly1075Ala) n.3375G>C c.3221G>C (p.Gly1074Ala) c.3395G>C (p.Gly1132Ala) | |
| 7 | g.41965675C>T | CA367318125 | GLI3 | c.3398G>A (p.Gly1133Glu) c.3224G>A (p.Gly1075Glu) n.3375G>A c.3221G>A (p.Gly1074Glu) c.3395G>A (p.Gly1132Glu) | COSMIC |
| 7 | g.41965675_41965681delinsCCGGGCG | CA1702660872 | GLI3 | c.3392_3398delinsCGCCCGG (p.Ala1131=) c.3218_3224delinsCGCCCGG (p.Ala1073=) n.3369_3375delinsCGCCCGG c.3215_3221delinsCGCCCGG (p.Ala1072=) c.3389_3395delinsCGCCCGG (p.Ala1130=) | |
| 7 | g.41965676C>A | CA367318126 | GLI3 | c.3397G>T (p.Gly1133Trp) c.3223G>T (p.Gly1075Trp) n.3374G>T c.3220G>T (p.Gly1074Trp) c.3394G>T (p.Gly1132Trp) | |
| 7 | g.41965676C= | CA1702660874 | GLI3 | c.3397G= (p.Gly1133=) c.3223G= (p.Gly1075=) n.3374G= c.3220G= (p.Gly1074=) c.3394G= (p.Gly1132=) | |
| 7 | g.41965676C>G | CA367318127 | GLI3 | c.3397G>C (p.Gly1133Arg) c.3223G>C (p.Gly1075Arg) n.3374G>C c.3220G>C (p.Gly1074Arg) c.3394G>C (p.Gly1132Arg) | dbSNP |
| 7 | g.41965676C>T | CA4230371 | GLI3 | c.3397G>A (p.Gly1133Arg) c.3223G>A (p.Gly1075Arg) n.3374G>A c.3220G>A (p.Gly1074Arg) c.3394G>A (p.Gly1132Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965678_41965683del | CA1702660873 | GLI3 | c.3392_3397del (p.Ala1131_Pro1132del) c.3218_3223del (p.Ala1073_Pro1074del) n.3369_3374del c.3215_3220del (p.Ala1072_Pro1073del) c.3389_3394del (p.Ala1130_Pro1131del) | ClinVar dbSNP |
| 7 | g.41965677G>A | CA156904110 | GLI3 | c.3396C>T (p.Pro1132=) c.3222C>T (p.Pro1074=) n.3373C>T c.3219C>T (p.Pro1073=) c.3393C>T (p.Pro1131=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965677G>C | CA454662011 | GLI3 | c.3396C>G (p.Pro1132=) c.3222C>G (p.Pro1074=) n.3373C>G c.3219C>G (p.Pro1073=) c.3393C>G (p.Pro1131=) | gnomAD v4 |
| 7 | g.41965677G= | CA1702660875 | GLI3 | c.3396C= (p.Pro1132=) c.3222C= (p.Pro1074=) n.3373C= c.3219C= (p.Pro1073=) c.3393C= (p.Pro1131=) | |
| 7 | g.41965677G>T | CA454662010 | GLI3 | c.3396C>A (p.Pro1132=) c.3222C>A (p.Pro1074=) n.3373C>A c.3219C>A (p.Pro1073=) c.3393C>A (p.Pro1131=) | |
| 7 | g.41965678G>A | CA367318128 | GLI3 | c.3395C>T (p.Pro1132Leu) c.3221C>T (p.Pro1074Leu) n.3372C>T c.3218C>T (p.Pro1073Leu) c.3392C>T (p.Pro1131Leu) | COSMIC |
| 7 | g.41965678G>C | CA367318129 | GLI3 | c.3395C>G (p.Pro1132Arg) c.3221C>G (p.Pro1074Arg) n.3372C>G c.3218C>G (p.Pro1073Arg) c.3392C>G (p.Pro1131Arg) | |
| 7 | g.41965678G>T | CA367318130 | GLI3 | c.3395C>A (p.Pro1132His) c.3221C>A (p.Pro1074His) n.3372C>A c.3218C>A (p.Pro1073His) c.3392C>A (p.Pro1131His) | |
| 7 | g.41965679G>A | CA367318131 | GLI3 | c.3394C>T (p.Pro1132Ser) c.3220C>T (p.Pro1074Ser) n.3371C>T c.3217C>T (p.Pro1073Ser) c.3391C>T (p.Pro1131Ser) | dbSNP gnomAD v4 |
| 7 | g.41965679G>C | CA367318132 | GLI3 | c.3394C>G (p.Pro1132Ala) c.3220C>G (p.Pro1074Ala) n.3371C>G c.3217C>G (p.Pro1073Ala) c.3391C>G (p.Pro1131Ala) | dbSNP gnomAD v4 |
| 7 | g.41965679G= | CA1702660876 | GLI3 | c.3394C= (p.Pro1132=) c.3220C= (p.Pro1074=) n.3371C= c.3217C= (p.Pro1073=) c.3391C= (p.Pro1131=) | |
| 7 | g.41965679G>T | CA367318133 | GLI3 | c.3394C>A (p.Pro1132Thr) c.3220C>A (p.Pro1074Thr) n.3371C>A c.3217C>A (p.Pro1073Thr) c.3391C>A (p.Pro1131Thr) | |
| 7 | g.41965680C>A | CA454662018 | GLI3 | c.3393G>T (p.Ala1131=) c.3219G>T (p.Ala1073=) n.3370G>T c.3216G>T (p.Ala1072=) c.3390G>T (p.Ala1130=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965680C= | CA1702660877 | GLI3 | c.3393G= (p.Ala1131=) c.3219G= (p.Ala1073=) n.3370G= c.3216G= (p.Ala1072=) c.3390G= (p.Ala1130=) | |
| 7 | g.41965680C>G | CA454662019 | GLI3 | c.3393G>C (p.Ala1131=) c.3219G>C (p.Ala1073=) n.3370G>C c.3216G>C (p.Ala1072=) c.3390G>C (p.Ala1130=) | |
| 7 | g.41965680C>T | CA454662020 | GLI3 | c.3393G>A (p.Ala1131=) c.3219G>A (p.Ala1073=) n.3370G>A c.3216G>A (p.Ala1072=) c.3390G>A (p.Ala1130=) | gnomAD v4 COSMIC |
| 7 | g.41965681G>A | CA4230372 | GLI3 | c.3392C>T (p.Ala1131Val) c.3218C>T (p.Ala1073Val) n.3369C>T c.3215C>T (p.Ala1072Val) c.3389C>T (p.Ala1130Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965681G>C | CA367318136 | GLI3 | c.3392C>G (p.Ala1131Gly) c.3218C>G (p.Ala1073Gly) n.3369C>G c.3215C>G (p.Ala1072Gly) c.3389C>G (p.Ala1130Gly) | |
| 7 | g.41965681G= | CA1702660878 | GLI3 | c.3392C= (p.Ala1131=) c.3218C= (p.Ala1073=) n.3369C= c.3215C= (p.Ala1072=) c.3389C= (p.Ala1130=) | |
| 7 | g.41965681G>T | CA367318134 | GLI3 | c.3392C>A (p.Ala1131Glu) c.3218C>A (p.Ala1073Glu) n.3369C>A c.3215C>A (p.Ala1072Glu) c.3389C>A (p.Ala1130Glu) | |
| 7 | g.41965682C>A | CA367318139 | GLI3 | c.3391G>T (p.Ala1131Ser) c.3217G>T (p.Ala1073Ser) n.3368G>T c.3214G>T (p.Ala1072Ser) c.3388G>T (p.Ala1130Ser) | |
| 7 | g.41965682C= | CA1702660879 | GLI3 | c.3391G= (p.Ala1131=) c.3217G= (p.Ala1073=) n.3368G= c.3214G= (p.Ala1072=) c.3388G= (p.Ala1130=) | |
| 7 | g.41965682C>G | CA367318143 | GLI3 | c.3391G>C (p.Ala1131Pro) c.3217G>C (p.Ala1073Pro) n.3368G>C c.3214G>C (p.Ala1072Pro) c.3388G>C (p.Ala1130Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965682C>T | CA367318141 | GLI3 | c.3391G>A (p.Ala1131Thr) c.3217G>A (p.Ala1073Thr) n.3368G>A c.3214G>A (p.Ala1072Thr) c.3388G>A (p.Ala1130Thr) | dbSNP gnomAD v4 |
| 7 | g.41965683G>A | CA4230373 | GLI3 | c.3390C>T (p.Asp1130=) c.3216C>T (p.Asp1072=) n.3367C>T c.3213C>T (p.Asp1071=) c.3387C>T (p.Asp1129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965683G>C | CA367318150 | GLI3 | c.3390C>G (p.Asp1130Glu) c.3216C>G (p.Asp1072Glu) n.3367C>G c.3213C>G (p.Asp1071Glu) c.3387C>G (p.Asp1129Glu) | |
| 7 | g.41965683G= | CA1702660880 | GLI3 | c.3390C= (p.Asp1130=) c.3216C= (p.Asp1072=) n.3367C= c.3213C= (p.Asp1071=) c.3387C= (p.Asp1129=) | |
| 7 | g.41965683G>T | CA367318148 | GLI3 | c.3390C>A (p.Asp1130Glu) c.3216C>A (p.Asp1072Glu) n.3367C>A c.3213C>A (p.Asp1071Glu) c.3387C>A (p.Asp1129Glu) | gnomAD v4 |
| 7 | g.41965684T>A | CA367318154 | GLI3 | c.3389A>T (p.Asp1130Val) c.3215A>T (p.Asp1072Val) n.3366A>T c.3212A>T (p.Asp1071Val) c.3386A>T (p.Asp1129Val) | |
| 7 | g.41965684T>C | CA367318158 | GLI3 | c.3389A>G (p.Asp1130Gly) c.3215A>G (p.Asp1072Gly) n.3366A>G c.3212A>G (p.Asp1071Gly) c.3386A>G (p.Asp1129Gly) | |
| 7 | g.41965684T>G | CA367318156 | GLI3 | c.3389A>C (p.Asp1130Ala) c.3215A>C (p.Asp1072Ala) n.3366A>C c.3212A>C (p.Asp1071Ala) c.3386A>C (p.Asp1129Ala) | |
| 7 | g.41965685C>A | CA367318161 | GLI3 | c.3388G>T (p.Asp1130Tyr) c.3214G>T (p.Asp1072Tyr) n.3365G>T c.3211G>T (p.Asp1071Tyr) c.3385G>T (p.Asp1129Tyr) | |
| 7 | g.41965685C= | CA1702660882 | GLI3 | c.3388G= (p.Asp1130=) c.3214G= (p.Asp1072=) n.3365G= c.3211G= (p.Asp1071=) c.3385G= (p.Asp1129=) | |
| 7 | g.41965685C>G | CA367318163 | GLI3 | c.3388G>C (p.Asp1130His) c.3214G>C (p.Asp1072His) n.3365G>C c.3211G>C (p.Asp1071His) c.3385G>C (p.Asp1129His) | dbSNP |
| 7 | g.41965685C>T | CA367318165 | GLI3 | c.3388G>A (p.Asp1130Asn) c.3214G>A (p.Asp1072Asn) n.3365G>A c.3211G>A (p.Asp1071Asn) c.3385G>A (p.Asp1129Asn) | |
| 7 | g.41965685_41965687delinsCAA | CA1702660881 | GLI3 | c.3386_3388delinsTTG (p.Phe1129=) c.3212_3214delinsTTG (p.Phe1071=) n.3363_3365delinsTTG c.3209_3211delinsTTG (p.Phe1070=) c.3383_3385delinsTTG (p.Phe1128=) | |
| 7 | g.41965686A>C | CA367318169 | GLI3 | c.3387T>G (p.Phe1129Leu) c.3213T>G (p.Phe1071Leu) n.3364T>G c.3210T>G (p.Phe1070Leu) c.3384T>G (p.Phe1128Leu) | |
| 7 | g.41965686A>G | CA454662305 | GLI3 | c.3387T>C (p.Phe1129=) c.3213T>C (p.Phe1071=) n.3364T>C c.3210T>C (p.Phe1070=) c.3384T>C (p.Phe1128=) | |
| 7 | g.41965686A>T | CA367318171 | GLI3 | c.3387T>A (p.Phe1129Leu) c.3213T>A (p.Phe1071Leu) n.3364T>A c.3210T>A (p.Phe1070Leu) c.3384T>A (p.Phe1128Leu) | |
| 7 | g.41965688del | CA156904137 | GLI3 | c.3387del (p.Phe1129LeufsTer?) c.3213del (p.Phe1071LeufsTer?) n.3364del c.3210del (p.Phe1070LeufsTer?) c.3384del (p.Phe1128LeufsTer?) | dbSNP |
| 7 | g.41965687_41965688del | CA342942 | GLI3 | c.3386_3387del (p.Phe1129Ter) c.3212_3213del (p.Phe1071Ter) n.3363_3364del c.3209_3210del (p.Phe1070Ter) c.3383_3384del (p.Phe1128Ter) | ClinVar dbSNP |
| 7 | g.41965687A>C | CA367318179 | GLI3 | c.3386T>G (p.Phe1129Cys) c.3212T>G (p.Phe1071Cys) n.3363T>G c.3209T>G (p.Phe1070Cys) c.3383T>G (p.Phe1128Cys) | |
| 7 | g.41965687A>G | CA367318175 | GLI3 | c.3386T>C (p.Phe1129Ser) c.3212T>C (p.Phe1071Ser) n.3363T>C c.3209T>C (p.Phe1070Ser) c.3383T>C (p.Phe1128Ser) | ClinVar |
| 7 | g.41965687A>T | CA367318177 | GLI3 | c.3386T>A (p.Phe1129Tyr) c.3212T>A (p.Phe1071Tyr) n.3363T>A c.3209T>A (p.Phe1070Tyr) c.3383T>A (p.Phe1128Tyr) | |
| 7 | g.41965688A= | CA1702660883 | GLI3 | c.3385T= (p.Phe1129=) c.3211T= (p.Phe1071=) n.3362T= c.3208T= (p.Phe1070=) c.3382T= (p.Phe1128=) | |
| 7 | g.41965688A>C | CA367318182 | GLI3 | c.3385T>G (p.Phe1129Val) c.3211T>G (p.Phe1071Val) n.3362T>G c.3208T>G (p.Phe1070Val) c.3382T>G (p.Phe1128Val) | gnomAD v4 |
| 7 | g.41965688A>G | CA156904146 | GLI3 | c.3385T>C (p.Phe1129Leu) c.3211T>C (p.Phe1071Leu) n.3362T>C c.3208T>C (p.Phe1070Leu) c.3382T>C (p.Phe1128Leu) | dbSNP |
| 7 | g.41965688A>T | CA367318186 | GLI3 | c.3385T>A (p.Phe1129Ile) c.3211T>A (p.Phe1071Ile) n.3362T>A c.3208T>A (p.Phe1070Ile) c.3382T>A (p.Phe1128Ile) | |
| 7 | g.41965689G>A | CA454662310 | GLI3 | c.3384C>T (p.Asp1128=) c.3210C>T (p.Asp1070=) n.3361C>T c.3207C>T (p.Asp1069=) c.3381C>T (p.Asp1127=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965689G>C | CA367318187 | GLI3 | c.3384C>G (p.Asp1128Glu) c.3210C>G (p.Asp1070Glu) n.3361C>G c.3207C>G (p.Asp1069Glu) c.3381C>G (p.Asp1127Glu) | |
| 7 | g.41965689G= | CA1702660884 | GLI3 | c.3384C= (p.Asp1128=) c.3210C= (p.Asp1070=) n.3361C= c.3207C= (p.Asp1069=) c.3381C= (p.Asp1127=) | |
| 7 | g.41965689G>T | CA367318189 | GLI3 | c.3384C>A (p.Asp1128Glu) c.3210C>A (p.Asp1070Glu) n.3361C>A c.3207C>A (p.Asp1069Glu) c.3381C>A (p.Asp1127Glu) | |
| 7 | g.41965690del | CA2695207638 | GLI3 | c.3383del (p.Asp1128AlafsTer?) c.3209del (p.Asp1070AlafsTer?) n.3360del c.3206del (p.Asp1069AlafsTer?) c.3380del (p.Asp1127AlafsTer?) | |
| 7 | g.41965690T>A | CA367318192 | GLI3 | c.3383A>T (p.Asp1128Val) c.3209A>T (p.Asp1070Val) n.3360A>T c.3206A>T (p.Asp1069Val) c.3380A>T (p.Asp1127Val) | |
| 7 | g.41965690T>C | CA367318195 | GLI3 | c.3383A>G (p.Asp1128Gly) c.3209A>G (p.Asp1070Gly) n.3360A>G c.3206A>G (p.Asp1069Gly) c.3380A>G (p.Asp1127Gly) | gnomAD v4 |
| 7 | g.41965690T>G | CA367318193 | GLI3 | c.3383A>C (p.Asp1128Ala) c.3209A>C (p.Asp1070Ala) n.3360A>C c.3206A>C (p.Asp1069Ala) c.3380A>C (p.Asp1127Ala) | |
| 7 | g.41965691C>A | CA367318199 | GLI3 | c.3382G>T (p.Asp1128Tyr) c.3208G>T (p.Asp1070Tyr) n.3359G>T c.3205G>T (p.Asp1069Tyr) c.3379G>T (p.Asp1127Tyr) | |
| 7 | g.41965691C>G | CA367318201 | GLI3 | c.3382G>C (p.Asp1128His) c.3208G>C (p.Asp1070His) n.3359G>C c.3205G>C (p.Asp1069His) c.3379G>C (p.Asp1127His) | |
| 7 | g.41965691C>T | CA367318204 | GLI3 | c.3382G>A (p.Asp1128Asn) c.3208G>A (p.Asp1070Asn) n.3359G>A c.3205G>A (p.Asp1069Asn) c.3379G>A (p.Asp1127Asn) | |
| 7 | g.41965692A= | CA1702660885 | GLI3 | c.3381T= (p.Gly1127=) c.3207T= (p.Gly1069=) n.3358T= c.3204T= (p.Gly1068=) c.3378T= (p.Gly1126=) | |
| 7 | g.41965692A>C | CA454662316 | GLI3 | c.3381T>G (p.Gly1127=) c.3207T>G (p.Gly1069=) n.3358T>G c.3204T>G (p.Gly1068=) c.3378T>G (p.Gly1126=) | |
| 7 | g.41965692A>G | CA454662317 | GLI3 | c.3381T>C (p.Gly1127=) c.3207T>C (p.Gly1069=) n.3358T>C c.3204T>C (p.Gly1068=) c.3378T>C (p.Gly1126=) | |
| 7 | g.41965692A>T | CA4230374 | GLI3 | c.3381T>A (p.Gly1127=) c.3207T>A (p.Gly1069=) n.3358T>A c.3204T>A (p.Gly1068=) c.3378T>A (p.Gly1126=) | dbSNP ExAC gnomAD v2 |
| 7 | g.41965693C>A | CA367318208 | GLI3 | c.3380G>T (p.Gly1127Val) c.3206G>T (p.Gly1069Val) n.3357G>T c.3203G>T (p.Gly1068Val) c.3377G>T (p.Gly1126Val) | |
| 7 | g.41965693C>G | CA367318209 | GLI3 | c.3380G>C (p.Gly1127Ala) c.3206G>C (p.Gly1069Ala) n.3357G>C c.3203G>C (p.Gly1068Ala) c.3377G>C (p.Gly1126Ala) | |
| 7 | g.41965693C>T | CA367318211 | GLI3 | c.3380G>A (p.Gly1127Asp) c.3206G>A (p.Gly1069Asp) n.3357G>A c.3203G>A (p.Gly1068Asp) c.3377G>A (p.Gly1126Asp) | |
| 7 | g.41965694C>A | CA4230376 | GLI3 | c.3379G>T (p.Gly1127Cys) c.3205G>T (p.Gly1069Cys) n.3356G>T c.3202G>T (p.Gly1068Cys) c.3376G>T (p.Gly1126Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965694C= | CA1702660886 | GLI3 | c.3379G= (p.Gly1127=) c.3205G= (p.Gly1069=) n.3356G= c.3202G= (p.Gly1068=) c.3376G= (p.Gly1126=) | |
| 7 | g.41965694C>G | CA367318215 | GLI3 | c.3379G>C (p.Gly1127Arg) c.3205G>C (p.Gly1069Arg) n.3356G>C c.3202G>C (p.Gly1068Arg) c.3376G>C (p.Gly1126Arg) | ClinVar |
| 7 | g.41965694C>T | CA4230375 | GLI3 | c.3379G>A (p.Gly1127Ser) c.3205G>A (p.Gly1069Ser) n.3356G>A c.3202G>A (p.Gly1068Ser) c.3376G>A (p.Gly1126Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965695G>A | CA4230377 | GLI3 | c.3378C>T (p.Pro1126=) c.3204C>T (p.Pro1068=) n.3355C>T c.3201C>T (p.Pro1067=) c.3375C>T (p.Pro1125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965695G>C | CA156904178 | GLI3 | c.3378C>G (p.Pro1126=) c.3204C>G (p.Pro1068=) n.3355C>G c.3201C>G (p.Pro1067=) c.3375C>G (p.Pro1125=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965695G= | CA1702660887 | GLI3 | c.3378C= (p.Pro1126=) c.3204C= (p.Pro1068=) n.3355C= c.3201C= (p.Pro1067=) c.3375C= (p.Pro1125=) | |
| 7 | g.41965695G>T | CA454662325 | GLI3 | c.3378C>A (p.Pro1126=) c.3204C>A (p.Pro1068=) n.3355C>A c.3201C>A (p.Pro1067=) c.3375C>A (p.Pro1125=) | gnomAD v3 gnomAD v4 |
| 7 | g.41965697del | CA2695198481 | GLI3 | c.3378del (p.Gly1127ValfsTer?) c.3204del (p.Gly1069ValfsTer?) n.3355del c.3201del (p.Gly1068ValfsTer?) c.3375del (p.Gly1126ValfsTer?) | ClinVar |
| 7 | g.41965696G>A | CA367318221 | GLI3 | c.3377C>T (p.Pro1126Leu) c.3203C>T (p.Pro1068Leu) n.3354C>T c.3200C>T (p.Pro1067Leu) c.3374C>T (p.Pro1125Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965696G>C | CA367318225 | GLI3 | c.3377C>G (p.Pro1126Arg) c.3203C>G (p.Pro1068Arg) n.3354C>G c.3200C>G (p.Pro1067Arg) c.3374C>G (p.Pro1125Arg) | |
| 7 | g.41965696G= | CA1702660888 | GLI3 | c.3377C= (p.Pro1126=) c.3203C= (p.Pro1068=) n.3354C= c.3200C= (p.Pro1067=) c.3374C= (p.Pro1125=) | |
| 7 | g.41965696G>T | CA367318223 | GLI3 | c.3377C>A (p.Pro1126His) c.3203C>A (p.Pro1068His) n.3354C>A c.3200C>A (p.Pro1067His) c.3374C>A (p.Pro1125His) | |
| 7 | g.41965697G>A | CA367318229 | GLI3 | c.3376C>T (p.Pro1126Ser) c.3202C>T (p.Pro1068Ser) n.3353C>T c.3199C>T (p.Pro1067Ser) c.3373C>T (p.Pro1125Ser) | |
| 7 | g.41965697G>C | CA367318231 | GLI3 | c.3376C>G (p.Pro1126Ala) c.3202C>G (p.Pro1068Ala) n.3353C>G c.3199C>G (p.Pro1067Ala) c.3373C>G (p.Pro1125Ala) | gnomAD v4 |
| 7 | g.41965697G>T | CA367318233 | GLI3 | c.3376C>A (p.Pro1126Thr) c.3202C>A (p.Pro1068Thr) n.3353C>A c.3199C>A (p.Pro1067Thr) c.3373C>A (p.Pro1125Thr) | |
| 7 | g.41965698C>A | CA454662329 | GLI3 | c.3375G>T (p.Gly1125=) c.3201G>T (p.Gly1067=) n.3352G>T c.3198G>T (p.Gly1066=) c.3372G>T (p.Gly1124=) | |
| 7 | g.41965698C= | CA1702660889 | GLI3 | c.3375G= (p.Gly1125=) c.3201G= (p.Gly1067=) n.3352G= c.3198G= (p.Gly1066=) c.3372G= (p.Gly1124=) | |
| 7 | g.41965698C>G | CA454662331 | GLI3 | c.3375G>C (p.Gly1125=) c.3201G>C (p.Gly1067=) n.3352G>C c.3198G>C (p.Gly1066=) c.3372G>C (p.Gly1124=) | |
| 7 | g.41965698C>T | CA454662334 | GLI3 | c.3375G>A (p.Gly1125=) c.3201G>A (p.Gly1067=) n.3352G>A c.3198G>A (p.Gly1066=) c.3372G>A (p.Gly1124=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965699C>A | CA4230378 | GLI3 | c.3374G>T (p.Gly1125Val) c.3200G>T (p.Gly1067Val) n.3351G>T c.3197G>T (p.Gly1066Val) c.3371G>T (p.Gly1124Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965699C= | CA1702660890 | GLI3 | c.3374G= (p.Gly1125=) c.3200G= (p.Gly1067=) n.3351G= c.3197G= (p.Gly1066=) c.3371G= (p.Gly1124=) | |
| 7 | g.41965699C>G | CA367318237 | GLI3 | c.3374G>C (p.Gly1125Ala) c.3200G>C (p.Gly1067Ala) n.3351G>C c.3197G>C (p.Gly1066Ala) c.3371G>C (p.Gly1124Ala) | |
| 7 | g.41965699C>T | CA367318239 | GLI3 | c.3374G>A (p.Gly1125Glu) c.3200G>A (p.Gly1067Glu) n.3351G>A c.3197G>A (p.Gly1066Glu) c.3371G>A (p.Gly1124Glu) | ClinVar |
| 7 | g.41965700C>A | CA367318241 | GLI3 | c.3373G>T (p.Gly1125Trp) c.3199G>T (p.Gly1067Trp) n.3350G>T c.3196G>T (p.Gly1066Trp) c.3370G>T (p.Gly1124Trp) | |
| 7 | g.41965700C= | CA1702660891 | GLI3 | c.3373G= (p.Gly1125=) c.3199G= (p.Gly1067=) n.3350G= c.3196G= (p.Gly1066=) c.3370G= (p.Gly1124=) | |
| 7 | g.41965700C>G | CA4230379 | GLI3 | c.3373G>C (p.Gly1125Arg) c.3199G>C (p.Gly1067Arg) n.3350G>C c.3196G>C (p.Gly1066Arg) c.3370G>C (p.Gly1124Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965700C>T | CA367318244 | GLI3 | c.3373G>A (p.Gly1125Arg) c.3199G>A (p.Gly1067Arg) n.3350G>A c.3196G>A (p.Gly1066Arg) c.3370G>A (p.Gly1124Arg) | dbSNP gnomAD v2 gnomAD v4 |