| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41965589_41965594del | CA2682510064 | GLI3 | c.3479_3484del (p.Ile1160_Trp1162delinsArg) c.3305_3310del (p.Ile1102_Trp1104delinsArg) n.3456_3461del c.3302_3307del (p.Ile1101_Trp1103delinsArg) c.3476_3481del (p.Ile1159_Trp1161delinsArg) | gnomAD v4 |
| 7 | g.41965592G>A | CA342945 | GLI3 | c.3481C>T (p.Gln1161Ter) c.3307C>T (p.Gln1103Ter) n.3458C>T c.3304C>T (p.Gln1102Ter) c.3478C>T (p.Gln1160Ter) | ClinVar dbSNP |
| 7 | g.41965592G>C | CA367317949 | GLI3 | c.3481C>G (p.Gln1161Glu) c.3307C>G (p.Gln1103Glu) n.3458C>G c.3304C>G (p.Gln1102Glu) c.3478C>G (p.Gln1160Glu) | |
| 7 | g.41965592G= | CA1702660837 | GLI3 | c.3481C= (p.Gln1161=) c.3307C= (p.Gln1103=) n.3458C= c.3304C= (p.Gln1102=) c.3478C= (p.Gln1160=) | |
| 7 | g.41965592G>T | CA367317950 | GLI3 | c.3481C>A (p.Gln1161Lys) c.3307C>A (p.Gln1103Lys) n.3458C>A c.3304C>A (p.Gln1102Lys) c.3478C>A (p.Gln1160Lys) | |
| 7 | g.41965593A>C | CA367317951 | GLI3 | c.3480T>G (p.Ile1160Met) c.3306T>G (p.Ile1102Met) n.3457T>G c.3303T>G (p.Ile1101Met) c.3477T>G (p.Ile1159Met) | |
| 7 | g.41965593A>G | CA454661927 | GLI3 | c.3480T>C (p.Ile1160=) c.3306T>C (p.Ile1102=) n.3457T>C c.3303T>C (p.Ile1101=) c.3477T>C (p.Ile1159=) | |
| 7 | g.41965593A>T | CA454661928 | GLI3 | c.3480T>A (p.Ile1160=) c.3306T>A (p.Ile1102=) n.3457T>A c.3303T>A (p.Ile1101=) c.3477T>A (p.Ile1159=) | |
| 7 | g.41965594A>C | CA367317954 | GLI3 | c.3479T>G (p.Ile1160Ser) c.3305T>G (p.Ile1102Ser) n.3456T>G c.3302T>G (p.Ile1101Ser) c.3476T>G (p.Ile1159Ser) | |
| 7 | g.41965594A>G | CA367317953 | GLI3 | c.3479T>C (p.Ile1160Thr) c.3305T>C (p.Ile1102Thr) n.3456T>C c.3302T>C (p.Ile1101Thr) c.3476T>C (p.Ile1159Thr) | |
| 7 | g.41965594A>T | CA367317952 | GLI3 | c.3479T>A (p.Ile1160Asn) c.3305T>A (p.Ile1102Asn) n.3456T>A c.3302T>A (p.Ile1101Asn) c.3476T>A (p.Ile1159Asn) | |
| 7 | g.41965595T>A | CA367317955 | GLI3 | c.3478A>T (p.Ile1160Phe) c.3304A>T (p.Ile1102Phe) n.3455A>T c.3301A>T (p.Ile1101Phe) c.3475A>T (p.Ile1159Phe) | |
| 7 | g.41965595T>C | CA367317956 | GLI3 | c.3478A>G (p.Ile1160Val) c.3304A>G (p.Ile1102Val) n.3455A>G c.3301A>G (p.Ile1101Val) c.3475A>G (p.Ile1159Val) | ClinVar gnomAD v4 |
| 7 | g.41965595T>G | CA367317957 | GLI3 | c.3478A>C (p.Ile1160Leu) c.3304A>C (p.Ile1102Leu) n.3455A>C c.3301A>C (p.Ile1101Leu) c.3475A>C (p.Ile1159Leu) | |
| 7 | g.41965596G>A | CA4230355 | GLI3 | c.3477C>T (p.Pro1159=) c.3303C>T (p.Pro1101=) n.3454C>T c.3300C>T (p.Pro1100=) c.3474C>T (p.Pro1158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965596G>C | CA454661929 | GLI3 | c.3477C>G (p.Pro1159=) c.3303C>G (p.Pro1101=) n.3454C>G c.3300C>G (p.Pro1100=) c.3474C>G (p.Pro1158=) | |
| 7 | g.41965596G= | CA1702660838 | GLI3 | c.3477C= (p.Pro1159=) c.3303C= (p.Pro1101=) n.3454C= c.3300C= (p.Pro1100=) c.3474C= (p.Pro1158=) | |
| 7 | g.41965596G>T | CA454661930 | GLI3 | c.3477C>A (p.Pro1159=) c.3303C>A (p.Pro1101=) n.3454C>A c.3300C>A (p.Pro1100=) c.3474C>A (p.Pro1158=) | gnomAD v4 |
| 7 | g.41965597G>A | CA367317958 | GLI3 | c.3476C>T (p.Pro1159Leu) c.3302C>T (p.Pro1101Leu) n.3453C>T c.3299C>T (p.Pro1100Leu) c.3473C>T (p.Pro1158Leu) | |
| 7 | g.41965597G>C | CA367317959 | GLI3 | c.3476C>G (p.Pro1159Arg) c.3302C>G (p.Pro1101Arg) n.3453C>G c.3299C>G (p.Pro1100Arg) c.3473C>G (p.Pro1158Arg) | gnomAD v4 |
| 7 | g.41965597G>T | CA367317960 | GLI3 | c.3476C>A (p.Pro1159His) c.3302C>A (p.Pro1101His) n.3453C>A c.3299C>A (p.Pro1100His) c.3473C>A (p.Pro1158His) | |
| 7 | g.41965598G>A | CA367317961 | GLI3 | c.3475C>T (p.Pro1159Ser) c.3301C>T (p.Pro1101Ser) n.3452C>T c.3298C>T (p.Pro1100Ser) c.3472C>T (p.Pro1158Ser) | |
| 7 | g.41965598G>C | CA367317962 | GLI3 | c.3475C>G (p.Pro1159Ala) c.3301C>G (p.Pro1101Ala) n.3452C>G c.3298C>G (p.Pro1100Ala) c.3472C>G (p.Pro1158Ala) | COSMIC |
| 7 | g.41965598G>T | CA367317963 | GLI3 | c.3475C>A (p.Pro1159Thr) c.3301C>A (p.Pro1101Thr) n.3452C>A c.3298C>A (p.Pro1100Thr) c.3472C>A (p.Pro1158Thr) | |
| 7 | g.41965599del | CA2695207633 | GLI3 | c.3474del (p.Ile1160PhefsTer?) c.3300del (p.Ile1102PhefsTer?) n.3451del c.3297del (p.Ile1101PhefsTer?) c.3471del (p.Ile1159PhefsTer?) | |
| 7 | g.41965599C>A | CA454661931 | GLI3 | c.3474G>T (p.Leu1158=) c.3300G>T (p.Leu1100=) n.3451G>T c.3297G>T (p.Leu1099=) c.3471G>T (p.Leu1157=) | gnomAD v4 |
| 7 | g.41965599C>G | CA454661932 | GLI3 | c.3474G>C (p.Leu1158=) c.3300G>C (p.Leu1100=) n.3451G>C c.3297G>C (p.Leu1099=) c.3471G>C (p.Leu1157=) | |
| 7 | g.41965599C>T | CA454661933 | GLI3 | c.3474G>A (p.Leu1158=) c.3300G>A (p.Leu1100=) n.3451G>A c.3297G>A (p.Leu1099=) c.3471G>A (p.Leu1157=) | gnomAD v4 |
| 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 |