| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41965710T>A | CA367318295 | GLI3 | c.3363A>T (p.Lys1121Asn) c.3189A>T (p.Lys1063Asn) n.3340A>T c.3186A>T (p.Lys1062Asn) c.3360A>T (p.Lys1120Asn) | |
| 7 | g.41965710T>C | CA454662353 | GLI3 | c.3363A>G (p.Lys1121=) c.3189A>G (p.Lys1063=) n.3340A>G c.3186A>G (p.Lys1062=) c.3360A>G (p.Lys1120=) | dbSNP gnomAD v4 |
| 7 | g.41965710T>G | CA367318298 | GLI3 | c.3363A>C (p.Lys1121Asn) c.3189A>C (p.Lys1063Asn) n.3340A>C c.3186A>C (p.Lys1062Asn) c.3360A>C (p.Lys1120Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965710T= | CA1702660897 | GLI3 | c.3363A= (p.Lys1121=) c.3189A= (p.Lys1063=) n.3340A= c.3186A= (p.Lys1062=) c.3360A= (p.Lys1120=) | |
| 7 | g.41965710_41965711delinsCG | CA1702660899 | GLI3 | c.3362_3363delinsCG (p.Lys1121Thr) c.3188_3189delinsCG (p.Lys1063Thr) n.3339_3340delinsCG c.3185_3186delinsCG (p.Lys1062Thr) c.3359_3360delinsCG (p.Lys1120Thr) | ClinVar dbSNP |
| 7 | g.41965710_41965711delinsTT | CA1702660898 | GLI3 | c.3362_3363delinsAA (p.Lys1121=) c.3188_3189delinsAA (p.Lys1063=) n.3339_3340delinsAA c.3185_3186delinsAA (p.Lys1062=) c.3359_3360delinsAA (p.Lys1120=) | |
| 7 | g.41965711T>A | CA367318300 | GLI3 | c.3362A>T (p.Lys1121Ile) c.3188A>T (p.Lys1063Ile) n.3339A>T c.3185A>T (p.Lys1062Ile) c.3359A>T (p.Lys1120Ile) | |
| 7 | g.41965711T>C | CA367318302 | GLI3 | c.3362A>G (p.Lys1121Arg) c.3188A>G (p.Lys1063Arg) n.3339A>G c.3185A>G (p.Lys1062Arg) c.3359A>G (p.Lys1120Arg) | |
| 7 | g.41965711T>G | CA367318303 | GLI3 | c.3362A>C (p.Lys1121Thr) c.3188A>C (p.Lys1063Thr) n.3339A>C c.3185A>C (p.Lys1062Thr) c.3359A>C (p.Lys1120Thr) | |
| 7 | g.41965712T>A | CA367318307 | GLI3 | c.3361A>T (p.Lys1121Ter) c.3187A>T (p.Lys1063Ter) n.3338A>T c.3184A>T (p.Lys1062Ter) c.3358A>T (p.Lys1120Ter) | |
| 7 | g.41965712T>C | CA367318309 | GLI3 | c.3361A>G (p.Lys1121Glu) c.3187A>G (p.Lys1063Glu) n.3338A>G c.3184A>G (p.Lys1062Glu) c.3358A>G (p.Lys1120Glu) | |
| 7 | g.41965712T>G | CA367318311 | GLI3 | c.3361A>C (p.Lys1121Gln) c.3187A>C (p.Lys1063Gln) n.3338A>C c.3184A>C (p.Lys1062Gln) c.3358A>C (p.Lys1120Gln) | |
| 7 | g.41965713G>A | CA454662358 | GLI3 | c.3360C>T (p.Ser1120=) c.3186C>T (p.Ser1062=) n.3337C>T c.3183C>T (p.Ser1061=) c.3357C>T (p.Ser1119=) | gnomAD v4 |
| 7 | g.41965713G>C | CA367318314 | GLI3 | c.3360C>G (p.Ser1120Arg) c.3186C>G (p.Ser1062Arg) n.3337C>G c.3183C>G (p.Ser1061Arg) c.3357C>G (p.Ser1119Arg) | gnomAD v4 |
| 7 | g.41965713G>T | CA367318316 | GLI3 | c.3360C>A (p.Ser1120Arg) c.3186C>A (p.Ser1062Arg) n.3337C>A c.3183C>A (p.Ser1061Arg) c.3357C>A (p.Ser1119Arg) | gnomAD v4 |
| 7 | g.41965714C>A | CA367318322 | GLI3 | c.3359G>T (p.Ser1120Ile) c.3185G>T (p.Ser1062Ile) n.3336G>T c.3182G>T (p.Ser1061Ile) c.3356G>T (p.Ser1119Ile) | |
| 7 | g.41965714C>G | CA367318319 | GLI3 | c.3359G>C (p.Ser1120Thr) c.3185G>C (p.Ser1062Thr) n.3336G>C c.3182G>C (p.Ser1061Thr) c.3356G>C (p.Ser1119Thr) | |
| 7 | g.41965714C>T | CA367318320 | GLI3 | c.3359G>A (p.Ser1120Asn) c.3185G>A (p.Ser1062Asn) n.3336G>A c.3182G>A (p.Ser1061Asn) c.3356G>A (p.Ser1119Asn) | |
| 7 | g.41965715T>A | CA367318325 | GLI3 | c.3358A>T (p.Ser1120Cys) c.3184A>T (p.Ser1062Cys) n.3335A>T c.3181A>T (p.Ser1061Cys) c.3355A>T (p.Ser1119Cys) | |
| 7 | g.41965715T>C | CA367318327 | GLI3 | c.3358A>G (p.Ser1120Gly) c.3184A>G (p.Ser1062Gly) n.3335A>G c.3181A>G (p.Ser1061Gly) c.3355A>G (p.Ser1119Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.41965715T>G | CA367318329 | GLI3 | c.3358A>C (p.Ser1120Arg) c.3184A>C (p.Ser1062Arg) n.3335A>C c.3181A>C (p.Ser1061Arg) c.3355A>C (p.Ser1119Arg) | |
| 7 | g.41965715T= | CA1702660900 | GLI3 | c.3358A= (p.Ser1120=) c.3184A= (p.Ser1062=) n.3335A= c.3181A= (p.Ser1061=) c.3355A= (p.Ser1119=) | |
| 7 | g.41965716G>A | CA454662368 | GLI3 | c.3357C>T (p.Asp1119=) c.3183C>T (p.Asp1061=) n.3334C>T c.3180C>T (p.Asp1060=) c.3354C>T (p.Asp1118=) | dbSNP gnomAD v4 |
| 7 | g.41965716G>C | CA367318333 | GLI3 | c.3357C>G (p.Asp1119Glu) c.3183C>G (p.Asp1061Glu) n.3334C>G c.3180C>G (p.Asp1060Glu) c.3354C>G (p.Asp1118Glu) | |
| 7 | g.41965716G= | CA1702660901 | GLI3 | c.3357C= (p.Asp1119=) c.3183C= (p.Asp1061=) n.3334C= c.3180C= (p.Asp1060=) c.3354C= (p.Asp1118=) | |
| 7 | g.41965716G>T | CA367318334 | GLI3 | c.3357C>A (p.Asp1119Glu) c.3183C>A (p.Asp1061Glu) n.3334C>A c.3180C>A (p.Asp1060Glu) c.3354C>A (p.Asp1118Glu) | |
| 7 | g.41965717T>A | CA367318337 | GLI3 | c.3356A>T (p.Asp1119Val) c.3182A>T (p.Asp1061Val) n.3333A>T c.3179A>T (p.Asp1060Val) c.3353A>T (p.Asp1118Val) | |
| 7 | g.41965717T>C | CA367318338 | GLI3 | c.3356A>G (p.Asp1119Gly) c.3182A>G (p.Asp1061Gly) n.3333A>G c.3179A>G (p.Asp1060Gly) c.3353A>G (p.Asp1118Gly) | gnomAD v4 |
| 7 | g.41965717T>G | CA367318341 | GLI3 | c.3356A>C (p.Asp1119Ala) c.3182A>C (p.Asp1061Ala) n.3333A>C c.3179A>C (p.Asp1060Ala) c.3353A>C (p.Asp1118Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965717T= | CA1702660902 | GLI3 | c.3356A= (p.Asp1119=) c.3182A= (p.Asp1061=) n.3333A= c.3179A= (p.Asp1060=) c.3353A= (p.Asp1118=) | |
| 7 | g.41965718C>A | CA367318344 | GLI3 | c.3355G>T (p.Asp1119Tyr) c.3181G>T (p.Asp1061Tyr) n.3332G>T c.3178G>T (p.Asp1060Tyr) c.3352G>T (p.Asp1118Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965718C= | CA1702660903 | GLI3 | c.3355G= (p.Asp1119=) c.3181G= (p.Asp1061=) n.3332G= c.3178G= (p.Asp1060=) c.3352G= (p.Asp1118=) | |
| 7 | g.41965718C>G | CA367318346 | GLI3 | c.3355G>C (p.Asp1119His) c.3181G>C (p.Asp1061His) n.3332G>C c.3178G>C (p.Asp1060His) c.3352G>C (p.Asp1118His) | gnomAD v4 |
| 7 | g.41965718C>T | CA4230384 | GLI3 | c.3355G>A (p.Asp1119Asn) c.3181G>A (p.Asp1061Asn) n.3332G>A c.3178G>A (p.Asp1060Asn) c.3352G>A (p.Asp1118Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965719G>A | CA4230385 | GLI3 | c.3354C>T (p.Asp1118=) c.3180C>T (p.Asp1060=) n.3331C>T c.3177C>T (p.Asp1059=) c.3351C>T (p.Asp1117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965719G>C | CA367318351 | GLI3 | c.3354C>G (p.Asp1118Glu) c.3180C>G (p.Asp1060Glu) n.3331C>G c.3177C>G (p.Asp1059Glu) c.3351C>G (p.Asp1117Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965719G= | CA1702660904 | GLI3 | c.3354C= (p.Asp1118=) c.3180C= (p.Asp1060=) n.3331C= c.3177C= (p.Asp1059=) c.3351C= (p.Asp1117=) | |
| 7 | g.41965719G>T | CA4230386 | GLI3 | c.3354C>A (p.Asp1118Glu) c.3180C>A (p.Asp1060Glu) n.3331C>A c.3177C>A (p.Asp1059Glu) c.3351C>A (p.Asp1117Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965720T>A | CA367318352 | GLI3 | c.3353A>T (p.Asp1118Val) c.3179A>T (p.Asp1060Val) n.3330A>T c.3176A>T (p.Asp1059Val) c.3350A>T (p.Asp1117Val) | gnomAD v4 |
| 7 | g.41965720T>C | CA367318354 | GLI3 | c.3353A>G (p.Asp1118Gly) c.3179A>G (p.Asp1060Gly) n.3330A>G c.3176A>G (p.Asp1059Gly) c.3350A>G (p.Asp1117Gly) | |
| 7 | g.41965720T>G | CA367318357 | GLI3 | c.3353A>C (p.Asp1118Ala) c.3179A>C (p.Asp1060Ala) n.3330A>C c.3176A>C (p.Asp1059Ala) c.3350A>C (p.Asp1117Ala) | |
| 7 | g.41965721C>A | CA367318359 | GLI3 | c.3352G>T (p.Asp1118Tyr) c.3178G>T (p.Asp1060Tyr) n.3329G>T c.3175G>T (p.Asp1059Tyr) c.3349G>T (p.Asp1117Tyr) | |
| 7 | g.41965721C>G | CA367318362 | GLI3 | c.3352G>C (p.Asp1118His) c.3178G>C (p.Asp1060His) n.3329G>C c.3175G>C (p.Asp1059His) c.3349G>C (p.Asp1117His) | |
| 7 | g.41965721C>T | CA367318364 | GLI3 | c.3352G>A (p.Asp1118Asn) c.3178G>A (p.Asp1060Asn) n.3329G>A c.3175G>A (p.Asp1059Asn) c.3349G>A (p.Asp1117Asn) | |
| 7 | g.41965722C>A | CA454662377 | GLI3 | c.3351G>T (p.Pro1117=) c.3177G>T (p.Pro1059=) n.3328G>T c.3174G>T (p.Pro1058=) c.3348G>T (p.Pro1116=) | dbSNP gnomAD v4 |
| 7 | g.41965722C= | CA1702660905 | GLI3 | c.3351G= (p.Pro1117=) c.3177G= (p.Pro1059=) n.3328G= c.3174G= (p.Pro1058=) c.3348G= (p.Pro1116=) | |
| 7 | g.41965722C>G | CA454662379 | GLI3 | c.3351G>C (p.Pro1117=) c.3177G>C (p.Pro1059=) n.3328G>C c.3174G>C (p.Pro1058=) c.3348G>C (p.Pro1116=) | |
| 7 | g.41965722C>T | CA4230387 | GLI3 | c.3351G>A (p.Pro1117=) c.3177G>A (p.Pro1059=) n.3328G>A c.3174G>A (p.Pro1058=) c.3348G>A (p.Pro1116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965723G>A | CA4230389 | GLI3 | c.3350C>T (p.Pro1117Leu) c.3176C>T (p.Pro1059Leu) n.3327C>T c.3173C>T (p.Pro1058Leu) c.3347C>T (p.Pro1116Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965723G>C | CA4230388 | GLI3 | c.3350C>G (p.Pro1117Arg) c.3176C>G (p.Pro1059Arg) n.3327C>G c.3173C>G (p.Pro1058Arg) c.3347C>G (p.Pro1116Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965723G= | CA1702660906 | GLI3 | c.3350C= (p.Pro1117=) c.3176C= (p.Pro1059=) n.3327C= c.3173C= (p.Pro1058=) c.3347C= (p.Pro1116=) | |
| 7 | g.41965723G>T | CA367318371 | GLI3 | c.3350C>A (p.Pro1117Gln) c.3176C>A (p.Pro1059Gln) n.3327C>A c.3173C>A (p.Pro1058Gln) c.3347C>A (p.Pro1116Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965724G>A | CA367318374 | GLI3 | c.3349C>T (p.Pro1117Ser) c.3175C>T (p.Pro1059Ser) n.3326C>T c.3172C>T (p.Pro1058Ser) c.3346C>T (p.Pro1116Ser) | ClinVar |
| 7 | g.41965724G>C | CA367318375 | GLI3 | c.3349C>G (p.Pro1117Ala) c.3175C>G (p.Pro1059Ala) n.3326C>G c.3172C>G (p.Pro1058Ala) c.3346C>G (p.Pro1116Ala) | |
| 7 | g.41965724G>T | CA367318377 | GLI3 | c.3349C>A (p.Pro1117Thr) c.3175C>A (p.Pro1059Thr) n.3326C>A c.3172C>A (p.Pro1058Thr) c.3346C>A (p.Pro1116Thr) | |
| 7 | g.41965725G>A | CA454662385 | GLI3 | c.3348C>T (p.Leu1116=) c.3174C>T (p.Leu1058=) n.3325C>T c.3171C>T (p.Leu1057=) c.3345C>T (p.Leu1115=) | |
| 7 | g.41965725G>C | CA454662387 | GLI3 | c.3348C>G (p.Leu1116=) c.3174C>G (p.Leu1058=) n.3325C>G c.3171C>G (p.Leu1057=) c.3345C>G (p.Leu1115=) | dbSNP |
| 7 | g.41965725G= | CA1702660907 | GLI3 | c.3348C= (p.Leu1116=) c.3174C= (p.Leu1058=) n.3325C= c.3171C= (p.Leu1057=) c.3345C= (p.Leu1115=) | |
| 7 | g.41965725G>T | CA454662389 | GLI3 | c.3348C>A (p.Leu1116=) c.3174C>A (p.Leu1058=) n.3325C>A c.3171C>A (p.Leu1057=) c.3345C>A (p.Leu1115=) | |
| 7 | g.41965726del | CA2682510065 | GLI3 | c.3347del (p.Leu1116ProfsTer?) c.3173del (p.Leu1058ProfsTer?) n.3324del c.3170del (p.Leu1057ProfsTer?) c.3344del (p.Leu1115ProfsTer?) | gnomAD v4 |
| 7 | g.41965726A>C | CA367318384 | GLI3 | c.3347T>G (p.Leu1116Arg) c.3173T>G (p.Leu1058Arg) n.3324T>G c.3170T>G (p.Leu1057Arg) c.3344T>G (p.Leu1115Arg) | |
| 7 | g.41965726A>G | CA367318381 | GLI3 | c.3347T>C (p.Leu1116Pro) c.3173T>C (p.Leu1058Pro) n.3324T>C c.3170T>C (p.Leu1057Pro) c.3344T>C (p.Leu1115Pro) | |
| 7 | g.41965726A>T | CA367318380 | GLI3 | c.3347T>A (p.Leu1116His) c.3173T>A (p.Leu1058His) n.3324T>A c.3170T>A (p.Leu1057His) c.3344T>A (p.Leu1115His) | |
| 7 | g.41965727G>A | CA4230390 | GLI3 | c.3346C>T (p.Leu1116Phe) c.3172C>T (p.Leu1058Phe) n.3323C>T c.3169C>T (p.Leu1057Phe) c.3343C>T (p.Leu1115Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965727G>C | CA367318388 | GLI3 | c.3346C>G (p.Leu1116Val) c.3172C>G (p.Leu1058Val) n.3323C>G c.3169C>G (p.Leu1057Val) c.3343C>G (p.Leu1115Val) | gnomAD v4 |
| 7 | g.41965727G= | CA1702660908 | GLI3 | c.3346C= (p.Leu1116=) c.3172C= (p.Leu1058=) n.3323C= c.3169C= (p.Leu1057=) c.3343C= (p.Leu1115=) | |
| 7 | g.41965727G>T | CA367318390 | GLI3 | c.3346C>A (p.Leu1116Ile) c.3172C>A (p.Leu1058Ile) n.3323C>A c.3169C>A (p.Leu1057Ile) c.3343C>A (p.Leu1115Ile) | |
| 7 | g.41965728G>A | CA454662395 | GLI3 | c.3345C>T (p.Ala1115=) c.3171C>T (p.Ala1057=) n.3322C>T c.3168C>T (p.Ala1056=) c.3342C>T (p.Ala1114=) | gnomAD v4 |
| 7 | g.41965728G>C | CA454662396 | GLI3 | c.3345C>G (p.Ala1115=) c.3171C>G (p.Ala1057=) n.3322C>G c.3168C>G (p.Ala1056=) c.3342C>G (p.Ala1114=) | |
| 7 | g.41965728G>T | CA454662398 | GLI3 | c.3345C>A (p.Ala1115=) c.3171C>A (p.Ala1057=) n.3322C>A c.3168C>A (p.Ala1056=) c.3342C>A (p.Ala1114=) | |
| 7 | g.41965729G>A | CA367318393 | GLI3 | c.3344C>T (p.Ala1115Val) c.3170C>T (p.Ala1057Val) n.3321C>T c.3167C>T (p.Ala1056Val) c.3341C>T (p.Ala1114Val) | gnomAD v4 |
| 7 | g.41965729G>C | CA367318395 | GLI3 | c.3344C>G (p.Ala1115Gly) c.3170C>G (p.Ala1057Gly) n.3321C>G c.3167C>G (p.Ala1056Gly) c.3341C>G (p.Ala1114Gly) | |
| 7 | g.41965729G>T | CA367318397 | GLI3 | c.3344C>A (p.Ala1115Asp) c.3170C>A (p.Ala1057Asp) n.3321C>A c.3167C>A (p.Ala1056Asp) c.3341C>A (p.Ala1114Asp) | |
| 7 | g.41965730C>A | CA4230392 | GLI3 | c.3343G>T (p.Ala1115Ser) c.3169G>T (p.Ala1057Ser) n.3320G>T c.3166G>T (p.Ala1056Ser) c.3340G>T (p.Ala1114Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965730C= | CA1702660909 | GLI3 | c.3343G= (p.Ala1115=) c.3169G= (p.Ala1057=) n.3320G= c.3166G= (p.Ala1056=) c.3340G= (p.Ala1114=) | |
| 7 | g.41965730C>G | CA367318402 | GLI3 | c.3343G>C (p.Ala1115Pro) c.3169G>C (p.Ala1057Pro) n.3320G>C c.3166G>C (p.Ala1056Pro) c.3340G>C (p.Ala1114Pro) | |
| 7 | g.41965730C>T | CA4230391 | GLI3 | c.3343G>A (p.Ala1115Thr) c.3169G>A (p.Ala1057Thr) n.3320G>A c.3166G>A (p.Ala1056Thr) c.3340G>A (p.Ala1114Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965731G>A | CA454662401 | GLI3 | c.3342C>T (p.Ser1114=) c.3168C>T (p.Ser1056=) n.3319C>T c.3165C>T (p.Ser1055=) c.3339C>T (p.Ser1113=) | dbSNP gnomAD v4 |
| 7 | g.41965731G>C | CA367318406 | GLI3 | c.3342C>G (p.Ser1114Arg) c.3168C>G (p.Ser1056Arg) n.3319C>G c.3165C>G (p.Ser1055Arg) c.3339C>G (p.Ser1113Arg) | |
| 7 | g.41965731G= | CA1702660910 | GLI3 | c.3342C= (p.Ser1114=) c.3168C= (p.Ser1056=) n.3319C= c.3165C= (p.Ser1055=) c.3339C= (p.Ser1113=) | |
| 7 | g.41965731G>T | CA367318408 | GLI3 | c.3342C>A (p.Ser1114Arg) c.3168C>A (p.Ser1056Arg) n.3319C>A c.3165C>A (p.Ser1055Arg) c.3339C>A (p.Ser1113Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965732C>A | CA367318411 | GLI3 | c.3341G>T (p.Ser1114Ile) c.3167G>T (p.Ser1056Ile) n.3318G>T c.3164G>T (p.Ser1055Ile) c.3338G>T (p.Ser1113Ile) | COSMIC |
| 7 | g.41965732C>G | CA367318413 | GLI3 | c.3341G>C (p.Ser1114Thr) c.3167G>C (p.Ser1056Thr) n.3318G>C c.3164G>C (p.Ser1055Thr) c.3338G>C (p.Ser1113Thr) | |
| 7 | g.41965732C>T | CA367318415 | GLI3 | c.3341G>A (p.Ser1114Asn) c.3167G>A (p.Ser1056Asn) n.3318G>A c.3164G>A (p.Ser1055Asn) c.3338G>A (p.Ser1113Asn) | |
| 7 | g.41965733T>A | CA367318422 | GLI3 | c.3340A>T (p.Ser1114Cys) c.3166A>T (p.Ser1056Cys) n.3317A>T c.3163A>T (p.Ser1055Cys) c.3337A>T (p.Ser1113Cys) | |
| 7 | g.41965733T>C | CA367318420 | GLI3 | c.3340A>G (p.Ser1114Gly) c.3166A>G (p.Ser1056Gly) n.3317A>G c.3163A>G (p.Ser1055Gly) c.3337A>G (p.Ser1113Gly) | |
| 7 | g.41965733T>G | CA367318418 | GLI3 | c.3340A>C (p.Ser1114Arg) c.3166A>C (p.Ser1056Arg) n.3317A>C c.3163A>C (p.Ser1055Arg) c.3337A>C (p.Ser1113Arg) | |
| 7 | g.41965734G>A | CA454662405 | GLI3 | c.3339C>T (p.Pro1113=) c.3165C>T (p.Pro1055=) n.3316C>T c.3162C>T (p.Pro1054=) c.3336C>T (p.Pro1112=) | |
| 7 | g.41965734G>C | CA4230393 | GLI3 | c.3339C>G (p.Pro1113=) c.3165C>G (p.Pro1055=) n.3316C>G c.3162C>G (p.Pro1054=) c.3336C>G (p.Pro1112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965734G= | CA1702660911 | GLI3 | c.3339C= (p.Pro1113=) c.3165C= (p.Pro1055=) n.3316C= c.3162C= (p.Pro1054=) c.3336C= (p.Pro1112=) | |
| 7 | g.41965734G>T | CA454662409 | GLI3 | c.3339C>A (p.Pro1113=) c.3165C>A (p.Pro1055=) n.3316C>A c.3162C>A (p.Pro1054=) c.3336C>A (p.Pro1112=) | dbSNP |
| 7 | g.41965735G>A | CA367318426 | GLI3 | c.3338C>T (p.Pro1113Leu) c.3164C>T (p.Pro1055Leu) n.3315C>T c.3161C>T (p.Pro1054Leu) c.3335C>T (p.Pro1112Leu) | gnomAD v4 |
| 7 | g.41965735G>C | CA367318429 | GLI3 | c.3338C>G (p.Pro1113Arg) c.3164C>G (p.Pro1055Arg) n.3315C>G c.3161C>G (p.Pro1054Arg) c.3335C>G (p.Pro1112Arg) | |
| 7 | g.41965735G>T | CA367318427 | GLI3 | c.3338C>A (p.Pro1113His) c.3164C>A (p.Pro1055His) n.3315C>A c.3161C>A (p.Pro1054His) c.3335C>A (p.Pro1112His) | |
| 7 | g.41965736G>A | CA367318432 | GLI3 | c.3337C>T (p.Pro1113Ser) c.3163C>T (p.Pro1055Ser) n.3314C>T c.3160C>T (p.Pro1054Ser) c.3334C>T (p.Pro1112Ser) | gnomAD v4 |
| 7 | g.41965736G>C | CA367318434 | GLI3 | c.3337C>G (p.Pro1113Ala) c.3163C>G (p.Pro1055Ala) n.3314C>G c.3160C>G (p.Pro1054Ala) c.3334C>G (p.Pro1112Ala) | gnomAD v4 |
| 7 | g.41965736G>T | CA367318436 | GLI3 | c.3337C>A (p.Pro1113Thr) c.3163C>A (p.Pro1055Thr) n.3314C>A c.3160C>A (p.Pro1054Thr) c.3334C>A (p.Pro1112Thr) | |
| 7 | g.41965737G>A | CA454662416 | GLI3 | c.3336C>T (p.Phe1112=) c.3162C>T (p.Phe1054=) n.3313C>T c.3159C>T (p.Phe1053=) c.3333C>T (p.Phe1111=) | dbSNP |
| 7 | g.41965737G>C | CA367318439 | GLI3 | c.3336C>G (p.Phe1112Leu) c.3162C>G (p.Phe1054Leu) n.3313C>G c.3159C>G (p.Phe1053Leu) c.3333C>G (p.Phe1111Leu) | dbSNP |
| 7 | g.41965737G= | CA1702660912 | GLI3 | c.3336C= (p.Phe1112=) c.3162C= (p.Phe1054=) n.3313C= c.3159C= (p.Phe1053=) c.3333C= (p.Phe1111=) | |
| 7 | g.41965737G>T | CA367318441 | GLI3 | c.3336C>A (p.Phe1112Leu) c.3162C>A (p.Phe1054Leu) n.3313C>A c.3159C>A (p.Phe1053Leu) c.3333C>A (p.Phe1111Leu) | |
| 7 | g.41965738A= | CA1702660913 | GLI3 | c.3335T= (p.Phe1112=) c.3161T= (p.Phe1054=) n.3312T= c.3158T= (p.Phe1053=) c.3332T= (p.Phe1111=) | |
| 7 | g.41965738A>C | CA367318444 | GLI3 | c.3335T>G (p.Phe1112Cys) c.3161T>G (p.Phe1054Cys) n.3312T>G c.3158T>G (p.Phe1053Cys) c.3332T>G (p.Phe1111Cys) | |
| 7 | g.41965738A>G | CA4230394 | GLI3 | c.3335T>C (p.Phe1112Ser) c.3161T>C (p.Phe1054Ser) n.3312T>C c.3158T>C (p.Phe1053Ser) c.3332T>C (p.Phe1111Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965738A>T | CA367318448 | GLI3 | c.3335T>A (p.Phe1112Tyr) c.3161T>A (p.Phe1054Tyr) n.3312T>A c.3158T>A (p.Phe1053Tyr) c.3332T>A (p.Phe1111Tyr) | |
| 7 | g.41965739A>C | CA367318451 | GLI3 | c.3334T>G (p.Phe1112Val) c.3160T>G (p.Phe1054Val) n.3311T>G c.3157T>G (p.Phe1053Val) c.3331T>G (p.Phe1111Val) | |
| 7 | g.41965739A>G | CA367318453 | GLI3 | c.3334T>C (p.Phe1112Leu) c.3160T>C (p.Phe1054Leu) n.3311T>C c.3157T>C (p.Phe1053Leu) c.3331T>C (p.Phe1111Leu) | |
| 7 | g.41965739A>T | CA367318455 | GLI3 | c.3334T>A (p.Phe1112Ile) c.3160T>A (p.Phe1054Ile) n.3311T>A c.3157T>A (p.Phe1053Ile) c.3331T>A (p.Phe1111Ile) | |
| 7 | g.41965740G>A | CA454662418 | GLI3 | c.3333C>T (p.His1111=) c.3159C>T (p.His1053=) n.3310C>T c.3156C>T (p.His1052=) c.3330C>T (p.His1110=) | |
| 7 | g.41965740G>C | CA367318457 | GLI3 | c.3333C>G (p.His1111Gln) c.3159C>G (p.His1053Gln) n.3310C>G c.3156C>G (p.His1052Gln) c.3330C>G (p.His1110Gln) | |
| 7 | g.41965740G>T | CA367318459 | GLI3 | c.3333C>A (p.His1111Gln) c.3159C>A (p.His1053Gln) n.3310C>A c.3156C>A (p.His1052Gln) c.3330C>A (p.His1110Gln) | |
| 7 | g.41965741T>A | CA367318468 | GLI3 | c.3332A>T (p.His1111Leu) c.3158A>T (p.His1053Leu) n.3309A>T c.3155A>T (p.His1052Leu) c.3329A>T (p.His1110Leu) | |
| 7 | g.41965741T>C | CA367318466 | GLI3 | c.3332A>G (p.His1111Arg) c.3158A>G (p.His1053Arg) n.3309A>G c.3155A>G (p.His1052Arg) c.3329A>G (p.His1110Arg) | |
| 7 | g.41965741T>G | CA367318464 | GLI3 | c.3332A>C (p.His1111Pro) c.3158A>C (p.His1053Pro) n.3309A>C c.3155A>C (p.His1052Pro) c.3329A>C (p.His1110Pro) | dbSNP gnomAD v2 |
| 7 | g.41965741T= | CA1702660914 | GLI3 | c.3332A= (p.His1111=) c.3158A= (p.His1053=) n.3309A= c.3155A= (p.His1052=) c.3329A= (p.His1110=) | |
| 7 | g.41965742G>A | CA367318470 | GLI3 | c.3331C>T (p.His1111Tyr) c.3157C>T (p.His1053Tyr) n.3308C>T c.3154C>T (p.His1052Tyr) c.3328C>T (p.His1110Tyr) | |
| 7 | g.41965742G>C | CA367318472 | GLI3 | c.3331C>G (p.His1111Asp) c.3157C>G (p.His1053Asp) n.3308C>G c.3154C>G (p.His1052Asp) c.3328C>G (p.His1110Asp) | gnomAD v4 |
| 7 | g.41965742G>T | CA367318474 | GLI3 | c.3331C>A (p.His1111Asn) c.3157C>A (p.His1053Asn) n.3308C>A c.3154C>A (p.His1052Asn) c.3328C>A (p.His1110Asn) | |
| 7 | g.41965743C>A | CA367318475 | GLI3 | c.3330G>T (p.Gln1110His) c.3156G>T (p.Gln1052His) n.3307G>T c.3153G>T (p.Gln1051His) c.3327G>T (p.Gln1109His) | |
| 7 | g.41965743C>G | CA367318477 | GLI3 | c.3330G>C (p.Gln1110His) c.3156G>C (p.Gln1052His) n.3307G>C c.3153G>C (p.Gln1051His) c.3327G>C (p.Gln1109His) | |
| 7 | g.41965743C>T | CA454662425 | GLI3 | c.3330G>A (p.Gln1110=) c.3156G>A (p.Gln1052=) n.3307G>A c.3153G>A (p.Gln1051=) c.3327G>A (p.Gln1109=) | |
| 7 | g.41965744T>A | CA367318480 | GLI3 | c.3329A>T (p.Gln1110Leu) c.3155A>T (p.Gln1052Leu) n.3306A>T c.3152A>T (p.Gln1051Leu) c.3326A>T (p.Gln1109Leu) | |
| 7 | g.41965744T>C | CA4230395 | GLI3 | c.3329A>G (p.Gln1110Arg) c.3155A>G (p.Gln1052Arg) n.3306A>G c.3152A>G (p.Gln1051Arg) c.3326A>G (p.Gln1109Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965744T>G | CA367318482 | GLI3 | c.3329A>C (p.Gln1110Pro) c.3155A>C (p.Gln1052Pro) n.3306A>C c.3152A>C (p.Gln1051Pro) c.3326A>C (p.Gln1109Pro) | gnomAD v4 |
| 7 | g.41965744T= | CA1702660915 | GLI3 | c.3329A= (p.Gln1110=) c.3155A= (p.Gln1052=) n.3306A= c.3152A= (p.Gln1051=) c.3326A= (p.Gln1109=) | |
| 7 | g.41965745G>A | CA367318485 | GLI3 | c.3328C>T (p.Gln1110Ter) c.3154C>T (p.Gln1052Ter) n.3305C>T c.3151C>T (p.Gln1051Ter) c.3325C>T (p.Gln1109Ter) | |
| 7 | g.41965745G>C | CA156904283 | GLI3 | c.3328C>G (p.Gln1110Glu) c.3154C>G (p.Gln1052Glu) n.3305C>G c.3151C>G (p.Gln1051Glu) c.3325C>G (p.Gln1109Glu) | dbSNP |
| 7 | g.41965745G= | CA1702660916 | GLI3 | c.3328C= (p.Gln1110=) c.3154C= (p.Gln1052=) n.3305C= c.3151C= (p.Gln1051=) c.3325C= (p.Gln1109=) | |
| 7 | g.41965745G>T | CA367318487 | GLI3 | c.3328C>A (p.Gln1110Lys) c.3154C>A (p.Gln1052Lys) n.3305C>A c.3151C>A (p.Gln1051Lys) c.3325C>A (p.Gln1109Lys) | |
| 7 | g.41965745_41965746insAC | CA454662431 | GLI3 | c.3327_3328insGT (p.Gln1110ValfsTer?) c.3153_3154insGT (p.Gln1052ValfsTer?) n.3304_3305insGT c.3150_3151insGT (p.Gln1051ValfsTer?) c.3324_3325insGT (p.Gln1109ValfsTer?) | |
| 7 | g.41965746C>A | CA367318490 | GLI3 | c.3327G>T (p.Glu1109Asp) c.3153G>T (p.Glu1051Asp) n.3304G>T c.3150G>T (p.Glu1050Asp) c.3324G>T (p.Glu1108Asp) | |
| 7 | g.41965746C>G | CA367318492 | GLI3 | c.3327G>C (p.Glu1109Asp) c.3153G>C (p.Glu1051Asp) n.3304G>C c.3150G>C (p.Glu1050Asp) c.3324G>C (p.Glu1108Asp) | |
| 7 | g.41965746C>T | CA454662437 | GLI3 | c.3327G>A (p.Glu1109=) c.3153G>A (p.Glu1051=) n.3304G>A c.3150G>A (p.Glu1050=) c.3324G>A (p.Glu1108=) | |
| 7 | g.41965747T>A | CA367318496 | GLI3 | c.3326A>T (p.Glu1109Val) c.3152A>T (p.Glu1051Val) n.3303A>T c.3149A>T (p.Glu1050Val) c.3323A>T (p.Glu1108Val) | |
| 7 | g.41965747T>C | CA367318497 | GLI3 | c.3326A>G (p.Glu1109Gly) c.3152A>G (p.Glu1051Gly) n.3303A>G c.3149A>G (p.Glu1050Gly) c.3323A>G (p.Glu1108Gly) | gnomAD v4 |
| 7 | g.41965747T>G | CA367318494 | GLI3 | c.3326A>C (p.Glu1109Ala) c.3152A>C (p.Glu1051Ala) n.3303A>C c.3149A>C (p.Glu1050Ala) c.3323A>C (p.Glu1108Ala) | |
| 7 | g.41965748C>A | CA367318501 | GLI3 | c.3325G>T (p.Glu1109Ter) c.3151G>T (p.Glu1051Ter) n.3302G>T c.3148G>T (p.Glu1050Ter) c.3322G>T (p.Glu1108Ter) | ClinVar dbSNP |
| 7 | g.41965748C= | CA1702660917 | GLI3 | c.3325G= (p.Glu1109=) c.3151G= (p.Glu1051=) n.3302G= c.3148G= (p.Glu1050=) c.3322G= (p.Glu1108=) | |
| 7 | g.41965748C>G | CA367318503 | GLI3 | c.3325G>C (p.Glu1109Gln) c.3151G>C (p.Glu1051Gln) n.3302G>C c.3148G>C (p.Glu1050Gln) c.3322G>C (p.Glu1108Gln) | |
| 7 | g.41965748C>T | CA4230396 | GLI3 | c.3325G>A (p.Glu1109Lys) c.3151G>A (p.Glu1051Lys) n.3302G>A c.3148G>A (p.Glu1050Lys) c.3322G>A (p.Glu1108Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965749G>A | CA454662445 | GLI3 | c.3324C>T (p.Tyr1108=) c.3150C>T (p.Tyr1050=) n.3301C>T c.3147C>T (p.Tyr1049=) c.3321C>T (p.Tyr1107=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965749G>C | CA342940 | GLI3 | c.3324C>G (p.Tyr1108Ter) c.3150C>G (p.Tyr1050Ter) n.3301C>G c.3147C>G (p.Tyr1049Ter) c.3321C>G (p.Tyr1107Ter) | ClinVar dbSNP |
| 7 | g.41965749G= | CA1702660918 | GLI3 | c.3324C= (p.Tyr1108=) c.3150C= (p.Tyr1050=) n.3301C= c.3147C= (p.Tyr1049=) c.3321C= (p.Tyr1107=) | |
| 7 | g.41965749G>T | CA367318510 | GLI3 | c.3324C>A (p.Tyr1108Ter) c.3150C>A (p.Tyr1050Ter) n.3301C>A c.3147C>A (p.Tyr1049Ter) c.3321C>A (p.Tyr1107Ter) | ClinVar dbSNP |
| 7 | g.41965750T>A | CA367318513 | GLI3 | c.3323A>T (p.Tyr1108Phe) c.3149A>T (p.Tyr1050Phe) n.3300A>T c.3146A>T (p.Tyr1049Phe) c.3320A>T (p.Tyr1107Phe) | |
| 7 | g.41965750T>C | CA367318515 | GLI3 | c.3323A>G (p.Tyr1108Cys) c.3149A>G (p.Tyr1050Cys) n.3300A>G c.3146A>G (p.Tyr1049Cys) c.3320A>G (p.Tyr1107Cys) | |
| 7 | g.41965750T>G | CA367318517 | GLI3 | c.3323A>C (p.Tyr1108Ser) c.3149A>C (p.Tyr1050Ser) n.3300A>C c.3146A>C (p.Tyr1049Ser) c.3320A>C (p.Tyr1107Ser) | |
| 7 | g.41965751A>C | CA367318520 | GLI3 | c.3322T>G (p.Tyr1108Asp) c.3148T>G (p.Tyr1050Asp) n.3299T>G c.3145T>G (p.Tyr1049Asp) c.3319T>G (p.Tyr1107Asp) | |
| 7 | g.41965751A>G | CA367318521 | GLI3 | c.3322T>C (p.Tyr1108His) c.3148T>C (p.Tyr1050His) n.3299T>C c.3145T>C (p.Tyr1049His) c.3319T>C (p.Tyr1107His) | |
| 7 | g.41965751A>T | CA367318524 | GLI3 | c.3322T>A (p.Tyr1108Asn) c.3148T>A (p.Tyr1050Asn) n.3299T>A c.3145T>A (p.Tyr1049Asn) c.3319T>A (p.Tyr1107Asn) | |
| 7 | g.41965752C>A | CA454662447 | GLI3 | c.3321G>T (p.Gly1107=) c.3147G>T (p.Gly1049=) n.3298G>T c.3144G>T (p.Gly1048=) c.3318G>T (p.Gly1106=) | gnomAD v4 |
| 7 | g.41965752C= | CA1702660919 | GLI3 | c.3321G= (p.Gly1107=) c.3147G= (p.Gly1049=) n.3298G= c.3144G= (p.Gly1048=) c.3318G= (p.Gly1106=) | |
| 7 | g.41965752C>G | CA454662450 | GLI3 | c.3321G>C (p.Gly1107=) c.3147G>C (p.Gly1049=) n.3298G>C c.3144G>C (p.Gly1048=) c.3318G>C (p.Gly1106=) | dbSNP |
| 7 | g.41965752C>T | CA454662451 | GLI3 | c.3321G>A (p.Gly1107=) c.3147G>A (p.Gly1049=) n.3298G>A c.3144G>A (p.Gly1048=) c.3318G>A (p.Gly1106=) | gnomAD v4 |
| 7 | g.41965753C>A | CA4230397 | GLI3 | c.3320G>T (p.Gly1107Val) c.3146G>T (p.Gly1049Val) n.3297G>T c.3143G>T (p.Gly1048Val) c.3317G>T (p.Gly1106Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965753C= | CA1702660920 | GLI3 | c.3320G= (p.Gly1107=) c.3146G= (p.Gly1049=) n.3297G= c.3143G= (p.Gly1048=) c.3317G= (p.Gly1106=) | |
| 7 | g.41965753C>G | CA367318529 | GLI3 | c.3320G>C (p.Gly1107Ala) c.3146G>C (p.Gly1049Ala) n.3297G>C c.3143G>C (p.Gly1048Ala) c.3317G>C (p.Gly1106Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965753C>T | CA367318527 | GLI3 | c.3320G>A (p.Gly1107Glu) c.3146G>A (p.Gly1049Glu) n.3297G>A c.3143G>A (p.Gly1048Glu) c.3317G>A (p.Gly1106Glu) | |
| 7 | g.41965754C>A | CA367318533 | GLI3 | c.3319G>T (p.Gly1107Trp) c.3145G>T (p.Gly1049Trp) n.3296G>T c.3142G>T (p.Gly1048Trp) c.3316G>T (p.Gly1106Trp) | |
| 7 | g.41965754C= | CA1702660921 | GLI3 | c.3319G= (p.Gly1107=) c.3145G= (p.Gly1049=) n.3296G= c.3142G= (p.Gly1048=) c.3316G= (p.Gly1106=) | |
| 7 | g.41965754C>G | CA367318535 | GLI3 | c.3319G>C (p.Gly1107Arg) c.3145G>C (p.Gly1049Arg) n.3296G>C c.3142G>C (p.Gly1048Arg) c.3316G>C (p.Gly1106Arg) | gnomAD v4 |
| 7 | g.41965754C>T | CA156904291 | GLI3 | c.3319G>A (p.Gly1107Arg) c.3145G>A (p.Gly1049Arg) n.3296G>A c.3142G>A (p.Gly1048Arg) c.3316G>A (p.Gly1106Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965755T>A | CA454662452 | GLI3 | c.3318A>T (p.Ala1106=) c.3144A>T (p.Ala1048=) n.3295A>T c.3141A>T (p.Ala1047=) c.3315A>T (p.Ala1105=) | dbSNP COSMIC |
| 7 | g.41965755T>C | CA454662453 | GLI3 | c.3318A>G (p.Ala1106=) c.3144A>G (p.Ala1048=) n.3295A>G c.3141A>G (p.Ala1047=) c.3315A>G (p.Ala1105=) | gnomAD v4 |
| 7 | g.41965755T>G | CA4230398 | GLI3 | c.3318A>C (p.Ala1106=) c.3144A>C (p.Ala1048=) n.3295A>C c.3141A>C (p.Ala1047=) c.3315A>C (p.Ala1105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965755T= | CA1702660922 | GLI3 | c.3318A= (p.Ala1106=) c.3144A= (p.Ala1048=) n.3295A= c.3141A= (p.Ala1047=) c.3315A= (p.Ala1105=) | |
| 7 | g.41965756G>A | CA367318540 | GLI3 | c.3317C>T (p.Ala1106Val) c.3143C>T (p.Ala1048Val) n.3294C>T c.3140C>T (p.Ala1047Val) c.3314C>T (p.Ala1105Val) | gnomAD v4 |
| 7 | g.41965756G>C | CA367318543 | GLI3 | c.3317C>G (p.Ala1106Gly) c.3143C>G (p.Ala1048Gly) n.3294C>G c.3140C>G (p.Ala1047Gly) c.3314C>G (p.Ala1105Gly) | |
| 7 | g.41965756G>T | CA367318544 | GLI3 | c.3317C>A (p.Ala1106Glu) c.3143C>A (p.Ala1048Glu) n.3294C>A c.3140C>A (p.Ala1047Glu) c.3314C>A (p.Ala1105Glu) | |
| 7 | g.41965757C>A | CA367318548 | GLI3 | c.3316G>T (p.Ala1106Ser) c.3142G>T (p.Ala1048Ser) n.3293G>T c.3139G>T (p.Ala1047Ser) c.3313G>T (p.Ala1105Ser) | |
| 7 | g.41965757C>G | CA367318550 | GLI3 | c.3316G>C (p.Ala1106Pro) c.3142G>C (p.Ala1048Pro) n.3293G>C c.3139G>C (p.Ala1047Pro) c.3313G>C (p.Ala1105Pro) | |
| 7 | g.41965757C>T | CA367318552 | GLI3 | c.3316G>A (p.Ala1106Thr) c.3142G>A (p.Ala1048Thr) n.3293G>A c.3139G>A (p.Ala1047Thr) c.3313G>A (p.Ala1105Thr) | |
| 7 | g.41965758T>A | CA367318555 | GLI3 | c.3315A>T (p.Gln1105His) c.3141A>T (p.Gln1047His) n.3292A>T c.3138A>T (p.Gln1046His) c.3312A>T (p.Gln1104His) | |
| 7 | g.41965758T>C | CA454662464 | GLI3 | c.3315A>G (p.Gln1105=) c.3141A>G (p.Gln1047=) n.3292A>G c.3138A>G (p.Gln1046=) c.3312A>G (p.Gln1104=) | |
| 7 | g.41965758T>G | CA367318557 | GLI3 | c.3315A>C (p.Gln1105His) c.3141A>C (p.Gln1047His) n.3292A>C c.3138A>C (p.Gln1046His) c.3312A>C (p.Gln1104His) | |
| 7 | g.41965759T>A | CA367318564 | GLI3 | c.3314A>T (p.Gln1105Leu) c.3140A>T (p.Gln1047Leu) n.3291A>T c.3137A>T (p.Gln1046Leu) c.3311A>T (p.Gln1104Leu) | |
| 7 | g.41965759T>C | CA367318562 | GLI3 | c.3314A>G (p.Gln1105Arg) c.3140A>G (p.Gln1047Arg) n.3291A>G c.3137A>G (p.Gln1046Arg) c.3311A>G (p.Gln1104Arg) | |
| 7 | g.41965759T>G | CA367318560 | GLI3 | c.3314A>C (p.Gln1105Pro) c.3140A>C (p.Gln1047Pro) n.3291A>C c.3137A>C (p.Gln1046Pro) c.3311A>C (p.Gln1104Pro) | |
| 7 | g.41965760G>A | CA367318567 | GLI3 | c.3313C>T (p.Gln1105Ter) c.3139C>T (p.Gln1047Ter) n.3290C>T c.3136C>T (p.Gln1046Ter) c.3310C>T (p.Gln1104Ter) | |
| 7 | g.41965760G>C | CA367318570 | GLI3 | c.3313C>G (p.Gln1105Glu) c.3139C>G (p.Gln1047Glu) n.3290C>G c.3136C>G (p.Gln1046Glu) c.3310C>G (p.Gln1104Glu) | |
| 7 | g.41965760G>T | CA367318569 | GLI3 | c.3313C>A (p.Gln1105Lys) c.3139C>A (p.Gln1047Lys) n.3290C>A c.3136C>A (p.Gln1046Lys) c.3310C>A (p.Gln1104Lys) | |
| 7 | g.41965761G>A | CA4230399 | GLI3 | c.3312C>T (p.Asn1104=) c.3138C>T (p.Asn1046=) n.3289C>T c.3135C>T (p.Asn1045=) c.3309C>T (p.Asn1103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965761G>C | CA367318574 | GLI3 | c.3312C>G (p.Asn1104Lys) c.3138C>G (p.Asn1046Lys) n.3289C>G c.3135C>G (p.Asn1045Lys) c.3309C>G (p.Asn1103Lys) | |
| 7 | g.41965761G= | CA1702660923 | GLI3 | c.3312C= (p.Asn1104=) c.3138C= (p.Asn1046=) n.3289C= c.3135C= (p.Asn1045=) c.3309C= (p.Asn1103=) | |
| 7 | g.41965761G>T | CA367318576 | GLI3 | c.3312C>A (p.Asn1104Lys) c.3138C>A (p.Asn1046Lys) n.3289C>A c.3135C>A (p.Asn1045Lys) c.3309C>A (p.Asn1103Lys) | COSMIC |
| 7 | g.41965762T>A | CA367318579 | GLI3 | c.3311A>T (p.Asn1104Ile) c.3137A>T (p.Asn1046Ile) n.3288A>T c.3134A>T (p.Asn1045Ile) c.3308A>T (p.Asn1103Ile) | |
| 7 | g.41965762T>C | CA367318581 | GLI3 | c.3311A>G (p.Asn1104Ser) c.3137A>G (p.Asn1046Ser) n.3288A>G c.3134A>G (p.Asn1045Ser) c.3308A>G (p.Asn1103Ser) | dbSNP gnomAD v4 |
| 7 | g.41965762T>G | CA367318584 | GLI3 | c.3311A>C (p.Asn1104Thr) c.3137A>C (p.Asn1046Thr) n.3288A>C c.3134A>C (p.Asn1045Thr) c.3308A>C (p.Asn1103Thr) | |
| 7 | g.41965762T= | CA1702660924 | GLI3 | c.3311A= (p.Asn1104=) c.3137A= (p.Asn1046=) n.3288A= c.3134A= (p.Asn1045=) c.3308A= (p.Asn1103=) | |
| 7 | g.41965763T>A | CA367318586 | GLI3 | c.3310A>T (p.Asn1104Tyr) c.3136A>T (p.Asn1046Tyr) n.3287A>T c.3133A>T (p.Asn1045Tyr) c.3307A>T (p.Asn1103Tyr) | |
| 7 | g.41965763T>C | CA367318588 | GLI3 | c.3310A>G (p.Asn1104Asp) c.3136A>G (p.Asn1046Asp) n.3287A>G c.3133A>G (p.Asn1045Asp) c.3307A>G (p.Asn1103Asp) | |
| 7 | g.41965763T>G | CA367318590 | GLI3 | c.3310A>C (p.Asn1104His) c.3136A>C (p.Asn1046His) n.3287A>C c.3133A>C (p.Asn1045His) c.3307A>C (p.Asn1103His) | |
| 7 | g.41965764C>A | CA367318591 | GLI3 | c.3309G>T (p.Gln1103His) c.3135G>T (p.Gln1045His) n.3286G>T c.3132G>T (p.Gln1044His) c.3306G>T (p.Gln1102His) | |
| 7 | g.41965764C>G | CA367318593 | GLI3 | c.3309G>C (p.Gln1103His) c.3135G>C (p.Gln1045His) n.3286G>C c.3132G>C (p.Gln1044His) c.3306G>C (p.Gln1102His) | |
| 7 | g.41965764C>T | CA454662467 | GLI3 | c.3309G>A (p.Gln1103=) c.3135G>A (p.Gln1045=) n.3286G>A c.3132G>A (p.Gln1044=) c.3306G>A (p.Gln1102=) | |
| 7 | g.41965765T>A | CA367318600 | GLI3 | c.3308A>T (p.Gln1103Leu) c.3134A>T (p.Gln1045Leu) n.3285A>T c.3131A>T (p.Gln1044Leu) c.3305A>T (p.Gln1102Leu) | |
| 7 | g.41965765T>C | CA367318595 | GLI3 | c.3308A>G (p.Gln1103Arg) c.3134A>G (p.Gln1045Arg) n.3285A>G c.3131A>G (p.Gln1044Arg) c.3305A>G (p.Gln1102Arg) | gnomAD v4 |
| 7 | g.41965765T>G | CA367318597 | GLI3 | c.3308A>C (p.Gln1103Pro) c.3134A>C (p.Gln1045Pro) n.3285A>C c.3131A>C (p.Gln1044Pro) c.3305A>C (p.Gln1102Pro) | |
| 7 | g.41965766G>A | CA367318602 | GLI3 | c.3307C>T (p.Gln1103Ter) c.3133C>T (p.Gln1045Ter) n.3284C>T c.3130C>T (p.Gln1044Ter) c.3304C>T (p.Gln1102Ter) | |
| 7 | g.41965766G>C | CA367318604 | GLI3 | c.3307C>G (p.Gln1103Glu) c.3133C>G (p.Gln1045Glu) n.3284C>G c.3130C>G (p.Gln1044Glu) c.3304C>G (p.Gln1102Glu) | |
| 7 | g.41965766G>T | CA367318606 | GLI3 | c.3307C>A (p.Gln1103Lys) c.3133C>A (p.Gln1045Lys) n.3284C>A c.3130C>A (p.Gln1044Lys) c.3304C>A (p.Gln1102Lys) | |
| 7 | g.41965767G>A | CA454662472 | GLI3 | c.3306C>T (p.Ser1102=) c.3132C>T (p.Ser1044=) n.3283C>T c.3129C>T (p.Ser1043=) c.3303C>T (p.Ser1101=) | |
| 7 | g.41965767G>C | CA454662474 | GLI3 | c.3306C>G (p.Ser1102=) c.3132C>G (p.Ser1044=) n.3283C>G c.3129C>G (p.Ser1043=) c.3303C>G (p.Ser1101=) | gnomAD v4 |
| 7 | g.41965767G>T | CA454662477 | GLI3 | c.3306C>A (p.Ser1102=) c.3132C>A (p.Ser1044=) n.3283C>A c.3129C>A (p.Ser1043=) c.3303C>A (p.Ser1101=) | |
| 7 | g.41965768G>A | CA367318607 | GLI3 | c.3305C>T (p.Ser1102Phe) c.3131C>T (p.Ser1044Phe) n.3282C>T c.3128C>T (p.Ser1043Phe) c.3302C>T (p.Ser1101Phe) | COSMIC |
| 7 | g.41965768G>C | CA367318608 | GLI3 | c.3305C>G (p.Ser1102Cys) c.3131C>G (p.Ser1044Cys) n.3282C>G c.3128C>G (p.Ser1043Cys) c.3302C>G (p.Ser1101Cys) | gnomAD v4 |
| 7 | g.41965768G= | CA1702660925 | GLI3 | c.3305C= (p.Ser1102=) c.3131C= (p.Ser1044=) n.3282C= c.3128C= (p.Ser1043=) c.3302C= (p.Ser1101=) | |
| 7 | g.41965768G>T | CA4230400 | GLI3 | c.3305C>A (p.Ser1102Tyr) c.3131C>A (p.Ser1044Tyr) n.3282C>A c.3128C>A (p.Ser1043Tyr) c.3302C>A (p.Ser1101Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965769A>C | CA367318611 | GLI3 | c.3304T>G (p.Ser1102Ala) c.3130T>G (p.Ser1044Ala) n.3281T>G c.3127T>G (p.Ser1043Ala) c.3301T>G (p.Ser1101Ala) | |
| 7 | g.41965769A>G | CA367318613 | GLI3 | c.3304T>C (p.Ser1102Pro) c.3130T>C (p.Ser1044Pro) n.3281T>C c.3127T>C (p.Ser1043Pro) c.3301T>C (p.Ser1101Pro) | |
| 7 | g.41965769A>T | CA367318615 | GLI3 | c.3304T>A (p.Ser1102Thr) c.3130T>A (p.Ser1044Thr) n.3281T>A c.3127T>A (p.Ser1043Thr) c.3301T>A (p.Ser1101Thr) | |
| 7 | g.41965770A>C | CA367318618 | GLI3 | c.3303T>G (p.Asn1101Lys) c.3129T>G (p.Asn1043Lys) n.3280T>G c.3126T>G (p.Asn1042Lys) c.3300T>G (p.Asn1100Lys) | |
| 7 | g.41965770A>G | CA454662478 | GLI3 | c.3303T>C (p.Asn1101=) c.3129T>C (p.Asn1043=) n.3280T>C c.3126T>C (p.Asn1042=) c.3300T>C (p.Asn1100=) | |
| 7 | g.41965770A>T | CA367318620 | GLI3 | c.3303T>A (p.Asn1101Lys) c.3129T>A (p.Asn1043Lys) n.3280T>A c.3126T>A (p.Asn1042Lys) c.3300T>A (p.Asn1100Lys) | |
| 7 | g.41965771T>A | CA367318626 | GLI3 | c.3302A>T (p.Asn1101Ile) c.3128A>T (p.Asn1043Ile) n.3279A>T c.3125A>T (p.Asn1042Ile) c.3299A>T (p.Asn1100Ile) | gnomAD v4 |
| 7 | g.41965771T>C | CA367318628 | GLI3 | c.3302A>G (p.Asn1101Ser) c.3128A>G (p.Asn1043Ser) n.3279A>G c.3125A>G (p.Asn1042Ser) c.3299A>G (p.Asn1100Ser) | |
| 7 | g.41965771T>G | CA367318624 | GLI3 | c.3302A>C (p.Asn1101Thr) c.3128A>C (p.Asn1043Thr) n.3279A>C c.3125A>C (p.Asn1042Thr) c.3299A>C (p.Asn1100Thr) | |
| 7 | g.41965773dup | CA2695207641 | GLI3 | c.3302dup (p.Asn1101LysfsTer28) c.3128dup (p.Asn1043LysfsTer28) n.3279dup c.3125dup (p.Asn1042LysfsTer28) c.3299dup (p.Asn1100LysfsTer28) | |
| 7 | g.41965772T>A | CA367318630 | GLI3 | c.3301A>T (p.Asn1101Tyr) c.3127A>T (p.Asn1043Tyr) n.3278A>T c.3124A>T (p.Asn1042Tyr) c.3298A>T (p.Asn1100Tyr) | |
| 7 | g.41965772T>C | CA156904309 | GLI3 | c.3301A>G (p.Asn1101Asp) c.3127A>G (p.Asn1043Asp) n.3278A>G c.3124A>G (p.Asn1042Asp) c.3298A>G (p.Asn1100Asp) | dbSNP gnomAD v4 |
| 7 | g.41965772T>G | CA367318635 | GLI3 | c.3301A>C (p.Asn1101His) c.3127A>C (p.Asn1043His) n.3278A>C c.3124A>C (p.Asn1042His) c.3298A>C (p.Asn1100His) | dbSNP gnomAD v4 |
| 7 | g.41965772T= | CA1702660926 | GLI3 | c.3301A= (p.Asn1101=) c.3127A= (p.Asn1043=) n.3278A= c.3124A= (p.Asn1042=) c.3298A= (p.Asn1100=) | |
| 7 | g.41965773T>A | CA367318637 | GLI3 | c.3300A>T (p.Leu1100Phe) c.3126A>T (p.Leu1042Phe) n.3277A>T c.3123A>T (p.Leu1041Phe) c.3297A>T (p.Leu1099Phe) | |
| 7 | g.41965773T>C | CA454662488 | GLI3 | c.3300A>G (p.Leu1100=) c.3126A>G (p.Leu1042=) n.3277A>G c.3123A>G (p.Leu1041=) c.3297A>G (p.Leu1099=) | gnomAD v4 |
| 7 | g.41965773T>G | CA367318639 | GLI3 | c.3300A>C (p.Leu1100Phe) c.3126A>C (p.Leu1042Phe) n.3277A>C c.3123A>C (p.Leu1041Phe) c.3297A>C (p.Leu1099Phe) | |
| 7 | g.41965774A>C | CA367318642 | GLI3 | c.3299T>G (p.Leu1100Ter) c.3125T>G (p.Leu1042Ter) n.3276T>G c.3122T>G (p.Leu1041Ter) c.3296T>G (p.Leu1099Ter) | |
| 7 | g.41965774A>G | CA367318644 | GLI3 | c.3299T>C (p.Leu1100Ser) c.3125T>C (p.Leu1042Ser) n.3276T>C c.3122T>C (p.Leu1041Ser) c.3296T>C (p.Leu1099Ser) | |
| 7 | g.41965774A>T | CA367318646 | GLI3 | c.3299T>A (p.Leu1100Ter) c.3125T>A (p.Leu1042Ter) n.3276T>A c.3122T>A (p.Leu1041Ter) c.3296T>A (p.Leu1099Ter) | |
| 7 | g.41965775A>C | CA367318649 | GLI3 | c.3298T>G (p.Leu1100Val) c.3124T>G (p.Leu1042Val) n.3275T>G c.3121T>G (p.Leu1041Val) c.3295T>G (p.Leu1099Val) | |
| 7 | g.41965775A>G | CA454662489 | GLI3 | c.3298T>C (p.Leu1100=) c.3124T>C (p.Leu1042=) n.3275T>C c.3121T>C (p.Leu1041=) c.3295T>C (p.Leu1099=) | |
| 7 | g.41965775A>T | CA367318651 | GLI3 | c.3298T>A (p.Leu1100Ile) c.3124T>A (p.Leu1042Ile) n.3275T>A c.3121T>A (p.Leu1041Ile) c.3295T>A (p.Leu1099Ile) | |
| 7 | g.41965776A>C | CA367318653 | GLI3 | c.3297T>G (p.Tyr1099Ter) c.3123T>G (p.Tyr1041Ter) n.3274T>G c.3120T>G (p.Tyr1040Ter) c.3294T>G (p.Tyr1098Ter) | |
| 7 | g.41965776A>G | CA454662490 | GLI3 | c.3297T>C (p.Tyr1099=) c.3123T>C (p.Tyr1041=) n.3274T>C c.3120T>C (p.Tyr1040=) c.3294T>C (p.Tyr1098=) | |
| 7 | g.41965776A>T | CA367318654 | GLI3 | c.3297T>A (p.Tyr1099Ter) c.3123T>A (p.Tyr1041Ter) n.3274T>A c.3120T>A (p.Tyr1040Ter) c.3294T>A (p.Tyr1098Ter) | |
| 7 | g.41965777T>A | CA367318659 | GLI3 | c.3296A>T (p.Tyr1099Phe) c.3122A>T (p.Tyr1041Phe) n.3273A>T c.3119A>T (p.Tyr1040Phe) c.3293A>T (p.Tyr1098Phe) | |
| 7 | g.41965777T>C | CA367318661 | GLI3 | c.3296A>G (p.Tyr1099Cys) c.3122A>G (p.Tyr1041Cys) n.3273A>G c.3119A>G (p.Tyr1040Cys) c.3293A>G (p.Tyr1098Cys) | dbSNP |
| 7 | g.41965777T>G | CA367318657 | GLI3 | c.3296A>C (p.Tyr1099Ser) c.3122A>C (p.Tyr1041Ser) n.3273A>C c.3119A>C (p.Tyr1040Ser) c.3293A>C (p.Tyr1098Ser) | |
| 7 | g.41965777T= | CA1702660927 | GLI3 | c.3296A= (p.Tyr1099=) c.3122A= (p.Tyr1041=) n.3273A= c.3119A= (p.Tyr1040=) c.3293A= (p.Tyr1098=) | |
| 7 | g.41965778A>C | CA367318663 | GLI3 | c.3295T>G (p.Tyr1099Asp) c.3121T>G (p.Tyr1041Asp) n.3272T>G c.3118T>G (p.Tyr1040Asp) c.3292T>G (p.Tyr1098Asp) | |
| 7 | g.41965778A>G | CA367318667 | GLI3 | c.3295T>C (p.Tyr1099His) c.3121T>C (p.Tyr1041His) n.3272T>C c.3118T>C (p.Tyr1040His) c.3292T>C (p.Tyr1098His) | |
| 7 | g.41965778A>T | CA367318670 | GLI3 | c.3295T>A (p.Tyr1099Asn) c.3121T>A (p.Tyr1041Asn) n.3272T>A c.3118T>A (p.Tyr1040Asn) c.3292T>A (p.Tyr1098Asn) | gnomAD v4 |
| 7 | g.41965779C>A | CA367318673 | GLI3 | c.3294G>T (p.Gln1098His) c.3120G>T (p.Gln1040His) n.3271G>T c.3117G>T (p.Gln1039His) c.3291G>T (p.Gln1097His) | |
| 7 | g.41965779C= | CA1702660928 | GLI3 | c.3294G= (p.Gln1098=) c.3120G= (p.Gln1040=) n.3271G= c.3117G= (p.Gln1039=) c.3291G= (p.Gln1097=) | |
| 7 | g.41965779C>G | CA4230401 | GLI3 | c.3294G>C (p.Gln1098His) c.3120G>C (p.Gln1040His) n.3271G>C c.3117G>C (p.Gln1039His) c.3291G>C (p.Gln1097His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965779C>T | CA454662497 | GLI3 | c.3294G>A (p.Gln1098=) c.3120G>A (p.Gln1040=) n.3271G>A c.3117G>A (p.Gln1039=) c.3291G>A (p.Gln1097=) | gnomAD v4 |
| 7 | g.41965780T>A | CA367318681 | GLI3 | c.3293A>T (p.Gln1098Leu) c.3119A>T (p.Gln1040Leu) n.3270A>T c.3116A>T (p.Gln1039Leu) c.3290A>T (p.Gln1097Leu) | |
| 7 | g.41965780T>C | CA4230402 | GLI3 | c.3293A>G (p.Gln1098Arg) c.3119A>G (p.Gln1040Arg) n.3270A>G c.3116A>G (p.Gln1039Arg) c.3290A>G (p.Gln1097Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965780T>G | CA367318679 | GLI3 | c.3293A>C (p.Gln1098Pro) c.3119A>C (p.Gln1040Pro) n.3270A>C c.3116A>C (p.Gln1039Pro) c.3290A>C (p.Gln1097Pro) | |
| 7 | g.41965780T= | CA1702660929 | GLI3 | c.3293A= (p.Gln1098=) c.3119A= (p.Gln1040=) n.3270A= c.3116A= (p.Gln1039=) c.3290A= (p.Gln1097=) | |
| 7 | g.41965780_41965781insACA | CA2775168981 | GLI3 | c.3292_3293insTGT (p.Gln1098LeufsTer2) c.3118_3119insTGT (p.Gln1040LeufsTer2) n.3269_3270insTGT c.3115_3116insTGT (p.Gln1039LeufsTer2) c.3289_3290insTGT (p.Gln1097LeufsTer2) | |
| 7 | g.41965780_41965781insACAGTGTAGTCATCTACTTTCTCAATAGTTATCGGTTTGTCACCAATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTA | CA454662499 | GLI3 | c.3292_3293insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1098LeufsTer18) c.3118_3119insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1040LeufsTer18) n.3269_3270insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT c.3115_3116insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1039LeufsTer18) c.3289_3290insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1097LeufsTer18) | |
| 7 | g.41965781G>A | CA367318684 | GLI3 | c.3292C>T (p.Gln1098Ter) c.3118C>T (p.Gln1040Ter) n.3269C>T c.3115C>T (p.Gln1039Ter) c.3289C>T (p.Gln1097Ter) | |
| 7 | g.41965781G>C | CA367318686 | GLI3 | c.3292C>G (p.Gln1098Glu) c.3118C>G (p.Gln1040Glu) n.3269C>G c.3115C>G (p.Gln1039Glu) c.3289C>G (p.Gln1097Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965781G= | CA1702660930 | GLI3 | c.3292C= (p.Gln1098=) c.3118C= (p.Gln1040=) n.3269C= c.3115C= (p.Gln1039=) c.3289C= (p.Gln1097=) | |
| 7 | g.41965781G>T | CA367318688 | GLI3 | c.3292C>A (p.Gln1098Lys) c.3118C>A (p.Gln1040Lys) n.3269C>A c.3115C>A (p.Gln1039Lys) c.3289C>A (p.Gln1097Lys) | |
| 7 | g.41965781_41965782insTGTAGTCATCTACTTTCTCAATAGTTATCGGTTTGT | CA2775168982 | GLI3 | c.3291_3292insACAAACCGATAACTATTGAGAAAGTAGATGACTACA c.3117_3118insACAAACCGATAACTATTGAGAAAGTAGATGACTACA n.3268_3269insACAAACCGATAACTATTGAGAAAGTAGATGACTACA c.3114_3115insACAAACCGATAACTATTGAGAAAGTAGATGACTACA c.3288_3289insACAAACCGATAACTATTGAGAAAGTAGATGACTACA | |
| 7 | g.41965782C>A | CA454662503 | GLI3 | c.3291G>T (p.Val1097=) c.3117G>T (p.Val1039=) n.3268G>T c.3114G>T (p.Val1038=) c.3288G>T (p.Val1096=) | |
| 7 | g.41965782C= | CA1702660931 | GLI3 | c.3291G= (p.Val1097=) c.3117G= (p.Val1039=) n.3268G= c.3114G= (p.Val1038=) c.3288G= (p.Val1096=) | |
| 7 | g.41965782C>G | CA454662504 | GLI3 | c.3291G>C (p.Val1097=) c.3117G>C (p.Val1039=) n.3268G>C c.3114G>C (p.Val1038=) c.3288G>C (p.Val1096=) | |
| 7 | g.41965782C>T | CA454662505 | GLI3 | c.3291G>A (p.Val1097=) c.3117G>A (p.Val1039=) n.3268G>A c.3114G>A (p.Val1038=) c.3288G>A (p.Val1096=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965782_41965783insTTTTGTTTGGTAAGTGAAA | CA454662508 | GLI3 | c.3290_3291insTTTCACTTACCAAACAAAA (p.Gln1098PhefsTer?) c.3116_3117insTTTCACTTACCAAACAAAA (p.Gln1040PhefsTer?) n.3267_3268insTTTCACTTACCAAACAAAA c.3113_3114insTTTCACTTACCAAACAAAA (p.Gln1039PhefsTer?) c.3287_3288insTTTCACTTACCAAACAAAA (p.Gln1097PhefsTer?) | |
| 7 | g.41965783A= | CA1702660932 | GLI3 | c.3290T= (p.Val1097=) c.3116T= (p.Val1039=) n.3267T= c.3113T= (p.Val1038=) c.3287T= (p.Val1096=) | |
| 7 | g.41965783A>C | CA367318692 | GLI3 | c.3290T>G (p.Val1097Gly) c.3116T>G (p.Val1039Gly) n.3267T>G c.3113T>G (p.Val1038Gly) c.3287T>G (p.Val1096Gly) | |
| 7 | g.41965783A>G | CA367318695 | GLI3 | c.3290T>C (p.Val1097Ala) c.3116T>C (p.Val1039Ala) n.3267T>C c.3113T>C (p.Val1038Ala) c.3287T>C (p.Val1096Ala) | dbSNP |
| 7 | g.41965783A>T | CA367318697 | GLI3 | c.3290T>A (p.Val1097Glu) c.3116T>A (p.Val1039Glu) n.3267T>A c.3113T>A (p.Val1038Glu) c.3287T>A (p.Val1096Glu) | |
| 7 | g.41965784C>A | CA367318703 | GLI3 | c.3289G>T (p.Val1097Leu) c.3115G>T (p.Val1039Leu) n.3266G>T c.3112G>T (p.Val1038Leu) c.3286G>T (p.Val1096Leu) | |
| 7 | g.41965784C= | CA1702660933 | GLI3 | c.3289G= (p.Val1097=) c.3115G= (p.Val1039=) n.3266G= c.3112G= (p.Val1038=) c.3286G= (p.Val1096=) | |
| 7 | g.41965784C>G | CA367318705 | GLI3 | c.3289G>C (p.Val1097Leu) c.3115G>C (p.Val1039Leu) n.3266G>C c.3112G>C (p.Val1038Leu) c.3286G>C (p.Val1096Leu) | |
| 7 | g.41965784C>T | CA367318701 | GLI3 | c.3289G>A (p.Val1097Met) c.3115G>A (p.Val1039Met) n.3266G>A c.3112G>A (p.Val1038Met) c.3286G>A (p.Val1096Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965785del | CA2578897282 | GLI3 | c.3289del (p.Val1097CysfsTer4) c.3115del (p.Val1039CysfsTer4) n.3266del c.3112del (p.Val1038CysfsTer4) c.3286del (p.Val1096CysfsTer4) | |
| 7 | g.41965785C>A | CA454662509 | GLI3 | c.3288G>T (p.Val1096=) c.3114G>T (p.Val1038=) n.3265G>T c.3111G>T (p.Val1037=) c.3285G>T (p.Val1095=) | |
| 7 | g.41965785C= | CA1702660934 | GLI3 | c.3288G= (p.Val1096=) c.3114G= (p.Val1038=) n.3265G= c.3111G= (p.Val1037=) c.3285G= (p.Val1095=) | |
| 7 | g.41965785C>G | CA454662510 | GLI3 | c.3288G>C (p.Val1096=) c.3114G>C (p.Val1038=) n.3265G>C c.3111G>C (p.Val1037=) c.3285G>C (p.Val1095=) | |
| 7 | g.41965785C>T | CA156904334 | GLI3 | c.3288G>A (p.Val1096=) c.3114G>A (p.Val1038=) n.3265G>A c.3111G>A (p.Val1037=) c.3285G>A (p.Val1095=) | dbSNP COSMIC |
| 7 | g.41965786A= | CA1702660935 | GLI3 | c.3287T= (p.Val1096=) c.3113T= (p.Val1038=) n.3264T= c.3110T= (p.Val1037=) c.3284T= (p.Val1095=) | |
| 7 | g.41965786A>C | CA367318710 | GLI3 | c.3287T>G (p.Val1096Gly) c.3113T>G (p.Val1038Gly) n.3264T>G c.3110T>G (p.Val1037Gly) c.3284T>G (p.Val1095Gly) | |
| 7 | g.41965786A>G | CA367318708 | GLI3 | c.3287T>C (p.Val1096Ala) c.3113T>C (p.Val1038Ala) n.3264T>C c.3110T>C (p.Val1037Ala) c.3284T>C (p.Val1095Ala) | |
| 7 | g.41965786A>T | CA4230403 | GLI3 | c.3287T>A (p.Val1096Glu) c.3113T>A (p.Val1038Glu) n.3264T>A c.3110T>A (p.Val1037Glu) c.3284T>A (p.Val1095Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965786_41965787insATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTAGCTTTTGTTTGATAAGTGAAAACTA | CA2775168983 | GLI3 | c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1098PhefsTer?) c.3113_3114insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1040PhefsTer?) n.3264_3265insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT c.3110_3111insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1039PhefsTer?) c.3284_3285insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1097PhefsTer?) | |
| 7 | g.41965787C>A | CA367318714 | GLI3 | c.3286G>T (p.Val1096Leu) c.3112G>T (p.Val1038Leu) n.3263G>T c.3109G>T (p.Val1037Leu) c.3283G>T (p.Val1095Leu) | |
| 7 | g.41965787C= | CA1702660936 | GLI3 | c.3286G= (p.Val1096=) c.3112G= (p.Val1038=) n.3263G= c.3109G= (p.Val1037=) c.3283G= (p.Val1095=) | |
| 7 | g.41965787C>G | CA367318716 | GLI3 | c.3286G>C (p.Val1096Leu) c.3112G>C (p.Val1038Leu) n.3263G>C c.3109G>C (p.Val1037Leu) c.3283G>C (p.Val1095Leu) | |
| 7 | g.41965787C>T | CA4230404 | GLI3 | c.3286G>A (p.Val1096Met) c.3112G>A (p.Val1038Met) n.3263G>A c.3109G>A (p.Val1037Met) c.3283G>A (p.Val1095Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965791_41965793dup | CA2775168984 | GLI3 | c.3284_3286dup (p.Asp1095_Val1096insAsp) c.3110_3112dup (p.Asp1037_Val1038insAsp) n.3261_3263dup c.3107_3109dup (p.Asp1036_Val1037insAsp) c.3281_3283dup (p.Asp1094_Val1095insAsp) | |
| 7 | g.41965788G>A | CA454662513 | GLI3 | c.3285C>T (p.Asp1095=) c.3111C>T (p.Asp1037=) n.3262C>T c.3108C>T (p.Asp1036=) c.3282C>T (p.Asp1094=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965788G>C | CA367318718 | GLI3 | c.3285C>G (p.Asp1095Glu) c.3111C>G (p.Asp1037Glu) n.3262C>G c.3108C>G (p.Asp1036Glu) c.3282C>G (p.Asp1094Glu) | |
| 7 | g.41965788G= | CA1702660937 | GLI3 | c.3285C= (p.Asp1095=) c.3111C= (p.Asp1037=) n.3262C= c.3108C= (p.Asp1036=) c.3282C= (p.Asp1094=) | |
| 7 | g.41965788G>T | CA367318720 | GLI3 | c.3285C>A (p.Asp1095Glu) c.3111C>A (p.Asp1037Glu) n.3262C>A c.3108C>A (p.Asp1036Glu) c.3282C>A (p.Asp1094Glu) | |
| 7 | g.41965789T>A | CA367318722 | GLI3 | c.3284A>T (p.Asp1095Val) c.3110A>T (p.Asp1037Val) n.3261A>T c.3107A>T (p.Asp1036Val) c.3281A>T (p.Asp1094Val) | |
| 7 | g.41965789T>C | CA367318723 | GLI3 | c.3284A>G (p.Asp1095Gly) c.3110A>G (p.Asp1037Gly) n.3261A>G c.3107A>G (p.Asp1036Gly) c.3281A>G (p.Asp1094Gly) | ClinVar dbSNP |
| 7 | g.41965789T>G | CA367318724 | GLI3 | c.3284A>C (p.Asp1095Ala) c.3110A>C (p.Asp1037Ala) n.3261A>C c.3107A>C (p.Asp1036Ala) c.3281A>C (p.Asp1094Ala) | gnomAD v4 |
| 7 | g.41965789T= | CA1702660938 | GLI3 | c.3284A= (p.Asp1095=) c.3110A= (p.Asp1037=) n.3261A= c.3107A= (p.Asp1036=) c.3281A= (p.Asp1094=) | |
| 7 | g.41965790C>A | CA4230407 | GLI3 | c.3283G>T (p.Asp1095Tyr) c.3109G>T (p.Asp1037Tyr) n.3260G>T c.3106G>T (p.Asp1036Tyr) c.3280G>T (p.Asp1094Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965790C= | CA1702660939 | GLI3 | c.3283G= (p.Asp1095=) c.3109G= (p.Asp1037=) n.3260G= c.3106G= (p.Asp1036=) c.3280G= (p.Asp1094=) | |
| 7 | g.41965790C>G | CA4230405 | GLI3 | c.3283G>C (p.Asp1095His) c.3109G>C (p.Asp1037His) n.3260G>C c.3106G>C (p.Asp1036His) c.3280G>C (p.Asp1094His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965790C>T | CA4230406 | GLI3 | c.3283G>A (p.Asp1095Asn) c.3109G>A (p.Asp1037Asn) n.3260G>A c.3106G>A (p.Asp1036Asn) c.3280G>A (p.Asp1094Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965791G>A | CA4230408 | GLI3 | c.3282C>T (p.Asp1094=) c.3108C>T (p.Asp1036=) n.3259C>T c.3105C>T (p.Asp1035=) c.3279C>T (p.Asp1093=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965791G>C | CA367318732 | GLI3 | c.3282C>G (p.Asp1094Glu) c.3108C>G (p.Asp1036Glu) n.3259C>G c.3105C>G (p.Asp1035Glu) c.3279C>G (p.Asp1093Glu) | dbSNP gnomAD v4 |
| 7 | g.41965791G= | CA1702660940 | GLI3 | c.3282C= (p.Asp1094=) c.3108C= (p.Asp1036=) n.3259C= c.3105C= (p.Asp1035=) c.3279C= (p.Asp1093=) | |
| 7 | g.41965791G>T | CA367318734 | GLI3 | c.3282C>A (p.Asp1094Glu) c.3108C>A (p.Asp1036Glu) n.3259C>A c.3105C>A (p.Asp1035Glu) c.3279C>A (p.Asp1093Glu) | dbSNP gnomAD v4 |
| 7 | g.41965792T>A | CA367318743 | GLI3 | c.3281A>T (p.Asp1094Val) c.3107A>T (p.Asp1036Val) n.3258A>T c.3104A>T (p.Asp1035Val) c.3278A>T (p.Asp1093Val) | |
| 7 | g.41965792T>C | CA367318741 | GLI3 | c.3281A>G (p.Asp1094Gly) c.3107A>G (p.Asp1036Gly) n.3258A>G c.3104A>G (p.Asp1035Gly) c.3278A>G (p.Asp1093Gly) | |
| 7 | g.41965792T>G | CA367318738 | GLI3 | c.3281A>C (p.Asp1094Ala) c.3107A>C (p.Asp1036Ala) n.3258A>C c.3104A>C (p.Asp1035Ala) c.3278A>C (p.Asp1093Ala) | |
| 7 | g.41965793C>A | CA367318745 | GLI3 | c.3280G>T (p.Asp1094Tyr) c.3106G>T (p.Asp1036Tyr) n.3257G>T c.3103G>T (p.Asp1035Tyr) c.3277G>T (p.Asp1093Tyr) | COSMIC |
| 7 | g.41965793C= | CA1702660941 | GLI3 | c.3280G= (p.Asp1094=) c.3106G= (p.Asp1036=) n.3257G= c.3103G= (p.Asp1035=) c.3277G= (p.Asp1093=) | |
| 7 | g.41965793C>G | CA367318747 | GLI3 | c.3280G>C (p.Asp1094His) c.3106G>C (p.Asp1036His) n.3257G>C c.3103G>C (p.Asp1035His) c.3277G>C (p.Asp1093His) | dbSNP |
| 7 | g.41965793C>T | CA367318749 | GLI3 | c.3280G>A (p.Asp1094Asn) c.3106G>A (p.Asp1036Asn) n.3257G>A c.3103G>A (p.Asp1035Asn) c.3277G>A (p.Asp1093Asn) | |
| 7 | g.41965794C>A | CA454662517 | GLI3 | c.3279G>T (p.Pro1093=) c.3105G>T (p.Pro1035=) n.3256G>T c.3102G>T (p.Pro1034=) c.3276G>T (p.Pro1092=) | |
| 7 | g.41965794C= | CA1702660942 | GLI3 | c.3279G= (p.Pro1093=) c.3105G= (p.Pro1035=) n.3256G= c.3102G= (p.Pro1034=) c.3276G= (p.Pro1092=) | |
| 7 | g.41965794C>G | CA454662518 | GLI3 | c.3279G>C (p.Pro1093=) c.3105G>C (p.Pro1035=) n.3256G>C c.3102G>C (p.Pro1034=) c.3276G>C (p.Pro1092=) | dbSNP |
| 7 | g.41965794C>T | CA454662521 | GLI3 | c.3279G>A (p.Pro1093=) c.3105G>A (p.Pro1035=) n.3256G>A c.3102G>A (p.Pro1034=) c.3276G>A (p.Pro1092=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965795G>A | CA4230409 | GLI3 | c.3278C>T (p.Pro1093Leu) c.3104C>T (p.Pro1035Leu) n.3255C>T c.3101C>T (p.Pro1034Leu) c.3275C>T (p.Pro1092Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965795G>C | CA367318753 | GLI3 | c.3278C>G (p.Pro1093Arg) c.3104C>G (p.Pro1035Arg) n.3255C>G c.3101C>G (p.Pro1034Arg) c.3275C>G (p.Pro1092Arg) | gnomAD v4 |
| 7 | g.41965795G= | CA1702660943 | GLI3 | c.3278C= (p.Pro1093=) c.3104C= (p.Pro1035=) n.3255C= c.3101C= (p.Pro1034=) c.3275C= (p.Pro1092=) | |
| 7 | g.41965795G>T | CA367318756 | GLI3 | c.3278C>A (p.Pro1093Gln) c.3104C>A (p.Pro1035Gln) n.3255C>A c.3101C>A (p.Pro1034Gln) c.3275C>A (p.Pro1092Gln) | |
| 7 | g.41965796G>A | CA367318759 | GLI3 | c.3277C>T (p.Pro1093Ser) c.3103C>T (p.Pro1035Ser) n.3254C>T c.3100C>T (p.Pro1034Ser) c.3274C>T (p.Pro1092Ser) | COSMIC |
| 7 | g.41965796G>C | CA367318761 | GLI3 | c.3277C>G (p.Pro1093Ala) c.3103C>G (p.Pro1035Ala) n.3254C>G c.3100C>G (p.Pro1034Ala) c.3274C>G (p.Pro1092Ala) | |
| 7 | g.41965796G>T | CA367318763 | GLI3 | c.3277C>A (p.Pro1093Thr) c.3103C>A (p.Pro1035Thr) n.3254C>A c.3100C>A (p.Pro1034Thr) c.3274C>A (p.Pro1092Thr) | |
| 7 | g.41965797C>A | CA454662534 | GLI3 | c.3276G>T (p.Leu1092=) c.3102G>T (p.Leu1034=) n.3253G>T c.3099G>T (p.Leu1033=) c.3273G>T (p.Leu1091=) | |
| 7 | g.41965797C>G | CA454662532 | GLI3 | c.3276G>C (p.Leu1092=) c.3102G>C (p.Leu1034=) n.3253G>C c.3099G>C (p.Leu1033=) c.3273G>C (p.Leu1091=) | |
| 7 | g.41965797C>T | CA454662530 | GLI3 | c.3276G>A (p.Leu1092=) c.3102G>A (p.Leu1034=) n.3253G>A c.3099G>A (p.Leu1033=) c.3273G>A (p.Leu1091=) | |
| 7 | g.41965798A= | CA1702660944 | GLI3 | c.3275T= (p.Leu1092=) c.3101T= (p.Leu1034=) n.3252T= c.3098T= (p.Leu1033=) c.3272T= (p.Leu1091=) | |
| 7 | g.41965798A>C | CA367318764 | GLI3 | c.3275T>G (p.Leu1092Arg) c.3101T>G (p.Leu1034Arg) n.3252T>G c.3098T>G (p.Leu1033Arg) c.3272T>G (p.Leu1091Arg) | |
| 7 | g.41965798A>G | CA367318765 | GLI3 | c.3275T>C (p.Leu1092Pro) c.3101T>C (p.Leu1034Pro) n.3252T>C c.3098T>C (p.Leu1033Pro) c.3272T>C (p.Leu1091Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965798A>T | CA367318766 | GLI3 | c.3275T>A (p.Leu1092Gln) c.3101T>A (p.Leu1034Gln) n.3252T>A c.3098T>A (p.Leu1033Gln) c.3272T>A (p.Leu1091Gln) | |
| 7 | g.41965799G>A | CA454662538 | GLI3 | c.3274C>T (p.Leu1092=) c.3100C>T (p.Leu1034=) n.3251C>T c.3097C>T (p.Leu1033=) c.3271C>T (p.Leu1091=) | gnomAD v4 |
| 7 | g.41965799G>C | CA367318768 | GLI3 | c.3274C>G (p.Leu1092Val) c.3100C>G (p.Leu1034Val) n.3251C>G c.3097C>G (p.Leu1033Val) c.3271C>G (p.Leu1091Val) | |
| 7 | g.41965799G>T | CA367318769 | GLI3 | c.3274C>A (p.Leu1092Met) c.3100C>A (p.Leu1034Met) n.3251C>A c.3097C>A (p.Leu1033Met) c.3271C>A (p.Leu1091Met) | |
| 7 | g.41965800G>A | CA454662539 | GLI3 | c.3273C>T (p.Phe1091=) c.3099C>T (p.Phe1033=) n.3250C>T c.3096C>T (p.Phe1032=) c.3270C>T (p.Phe1090=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965800G>C | CA367318772 | GLI3 | c.3273C>G (p.Phe1091Leu) c.3099C>G (p.Phe1033Leu) n.3250C>G c.3096C>G (p.Phe1032Leu) c.3270C>G (p.Phe1090Leu) | |
| 7 | g.41965800G= | CA1702660945 | GLI3 | c.3273C= (p.Phe1091=) c.3099C= (p.Phe1033=) n.3250C= c.3096C= (p.Phe1032=) c.3270C= (p.Phe1090=) | |
| 7 | g.41965800G>T | CA367318774 | GLI3 | c.3273C>A (p.Phe1091Leu) c.3099C>A (p.Phe1033Leu) n.3250C>A c.3096C>A (p.Phe1032Leu) c.3270C>A (p.Phe1090Leu) | |
| 7 | g.41965801A>C | CA367318777 | GLI3 | c.3272T>G (p.Phe1091Cys) c.3098T>G (p.Phe1033Cys) n.3249T>G c.3095T>G (p.Phe1032Cys) c.3269T>G (p.Phe1090Cys) | |
| 7 | g.41965801A>G | CA367318779 | GLI3 | c.3272T>C (p.Phe1091Ser) c.3098T>C (p.Phe1033Ser) n.3249T>C c.3095T>C (p.Phe1032Ser) c.3269T>C (p.Phe1090Ser) | |
| 7 | g.41965801A>T | CA367318782 | GLI3 | c.3272T>A (p.Phe1091Tyr) c.3098T>A (p.Phe1033Tyr) n.3249T>A c.3095T>A (p.Phe1032Tyr) c.3269T>A (p.Phe1090Tyr) | |
| 7 | g.41965802A= | CA1702660946 | GLI3 | c.3271T= (p.Phe1091=) c.3097T= (p.Phe1033=) n.3248T= c.3094T= (p.Phe1032=) c.3268T= (p.Phe1090=) | |
| 7 | g.41965802A>C | CA367318785 | GLI3 | c.3271T>G (p.Phe1091Val) c.3097T>G (p.Phe1033Val) n.3248T>G c.3094T>G (p.Phe1032Val) c.3268T>G (p.Phe1090Val) | |
| 7 | g.41965802A>G | CA4230410 | GLI3 | c.3271T>C (p.Phe1091Leu) c.3097T>C (p.Phe1033Leu) n.3248T>C c.3094T>C (p.Phe1032Leu) c.3268T>C (p.Phe1090Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965802A>T | CA367318789 | GLI3 | c.3271T>A (p.Phe1091Ile) c.3097T>A (p.Phe1033Ile) n.3248T>A c.3094T>A (p.Phe1032Ile) c.3268T>A (p.Phe1090Ile) | |
| 7 | g.41965803A>C | CA367318790 | GLI3 | c.3270T>G (p.Asp1090Glu) c.3096T>G (p.Asp1032Glu) n.3247T>G c.3093T>G (p.Asp1031Glu) c.3267T>G (p.Asp1089Glu) | |
| 7 | g.41965803A>G | CA454662547 | GLI3 | c.3270T>C (p.Asp1090=) c.3096T>C (p.Asp1032=) n.3247T>C c.3093T>C (p.Asp1031=) c.3267T>C (p.Asp1089=) | |
| 7 | g.41965803A>T | CA367318793 | GLI3 | c.3270T>A (p.Asp1090Glu) c.3096T>A (p.Asp1032Glu) n.3247T>A c.3093T>A (p.Asp1031Glu) c.3267T>A (p.Asp1089Glu) | |
| 7 | g.41965804T>A | CA367318796 | GLI3 | c.3269A>T (p.Asp1090Val) c.3095A>T (p.Asp1032Val) n.3246A>T c.3092A>T (p.Asp1031Val) c.3266A>T (p.Asp1089Val) | |
| 7 | g.41965804T>C | CA156904389 | GLI3 | c.3269A>G (p.Asp1090Gly) c.3095A>G (p.Asp1032Gly) n.3246A>G c.3092A>G (p.Asp1031Gly) c.3266A>G (p.Asp1089Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965804T>G | CA367318799 | GLI3 | c.3269A>C (p.Asp1090Ala) c.3095A>C (p.Asp1032Ala) n.3246A>C c.3092A>C (p.Asp1031Ala) c.3266A>C (p.Asp1089Ala) | |
| 7 | g.41965804T= | CA1702660947 | GLI3 | c.3269A= (p.Asp1090=) c.3095A= (p.Asp1032=) n.3246A= c.3092A= (p.Asp1031=) c.3266A= (p.Asp1089=) | |
| 7 | g.41965805C>A | CA367318802 | GLI3 | c.3268G>T (p.Asp1090Tyr) c.3094G>T (p.Asp1032Tyr) n.3245G>T c.3091G>T (p.Asp1031Tyr) c.3265G>T (p.Asp1089Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965805C= | CA1702660948 | GLI3 | c.3268G= (p.Asp1090=) c.3094G= (p.Asp1032=) n.3245G= c.3091G= (p.Asp1031=) c.3265G= (p.Asp1089=) | |
| 7 | g.41965805C>G | CA367318807 | GLI3 | c.3268G>C (p.Asp1090His) c.3094G>C (p.Asp1032His) n.3245G>C c.3091G>C (p.Asp1031His) c.3265G>C (p.Asp1089His) | |
| 7 | g.41965805C>T | CA367318804 | GLI3 | c.3268G>A (p.Asp1090Asn) c.3094G>A (p.Asp1032Asn) n.3245G>A c.3091G>A (p.Asp1031Asn) c.3265G>A (p.Asp1089Asn) | |
| 7 | g.41965806C>A | CA367318808 | GLI3 | c.3267G>T (p.Glu1089Asp) c.3093G>T (p.Glu1031Asp) n.3244G>T c.3090G>T (p.Glu1030Asp) c.3264G>T (p.Glu1088Asp) | |
| 7 | g.41965806C>G | CA367318809 | GLI3 | c.3267G>C (p.Glu1089Asp) c.3093G>C (p.Glu1031Asp) n.3244G>C c.3090G>C (p.Glu1030Asp) c.3264G>C (p.Glu1088Asp) | |
| 7 | g.41965806C>T | CA454662554 | GLI3 | c.3267G>A (p.Glu1089=) c.3093G>A (p.Glu1031=) n.3244G>A c.3090G>A (p.Glu1030=) c.3264G>A (p.Glu1088=) | |
| 7 | g.41965807T>A | CA367318810 | GLI3 | c.3266A>T (p.Glu1089Val) c.3092A>T (p.Glu1031Val) n.3243A>T c.3089A>T (p.Glu1030Val) c.3263A>T (p.Glu1088Val) | dbSNP |
| 7 | g.41965807T>C | CA367318811 | GLI3 | c.3266A>G (p.Glu1089Gly) c.3092A>G (p.Glu1031Gly) n.3243A>G c.3089A>G (p.Glu1030Gly) c.3263A>G (p.Glu1088Gly) | |
| 7 | g.41965807T>G | CA367318812 | GLI3 | c.3266A>C (p.Glu1089Ala) c.3092A>C (p.Glu1031Ala) n.3243A>C c.3089A>C (p.Glu1030Ala) c.3263A>C (p.Glu1088Ala) | |
| 7 | g.41965807T= | CA1702660949 | GLI3 | c.3266A= (p.Glu1089=) c.3092A= (p.Glu1031=) n.3243A= c.3089A= (p.Glu1030=) c.3263A= (p.Glu1088=) | |
| 7 | g.41965808C>A | CA367318813 | GLI3 | c.3265G>T (p.Glu1089Ter) c.3091G>T (p.Glu1031Ter) n.3242G>T c.3088G>T (p.Glu1030Ter) c.3262G>T (p.Glu1088Ter) | |
| 7 | g.41965808C>G | CA367318814 | GLI3 | c.3265G>C (p.Glu1089Gln) c.3091G>C (p.Glu1031Gln) n.3242G>C c.3088G>C (p.Glu1030Gln) c.3262G>C (p.Glu1088Gln) | |
| 7 | g.41965808C>T | CA367318815 | GLI3 | c.3265G>A (p.Glu1089Lys) c.3091G>A (p.Glu1031Lys) n.3242G>A c.3088G>A (p.Glu1030Lys) c.3262G>A (p.Glu1088Lys) | |
| 7 | g.41965809A>C | CA367318816 | GLI3 | c.3264T>G (p.Asp1088Glu) c.3090T>G (p.Asp1030Glu) n.3241T>G c.3087T>G (p.Asp1029Glu) c.3261T>G (p.Asp1087Glu) | |
| 7 | g.41965809A>G | CA454661742 | GLI3 | c.3264T>C (p.Asp1088=) c.3090T>C (p.Asp1030=) n.3241T>C c.3087T>C (p.Asp1029=) c.3261T>C (p.Asp1087=) | |
| 7 | g.41965809A>T | CA367318817 | GLI3 | c.3264T>A (p.Asp1088Glu) c.3090T>A (p.Asp1030Glu) n.3241T>A c.3087T>A (p.Asp1029Glu) c.3261T>A (p.Asp1087Glu) | |
| 7 | g.41965810T>A | CA367318820 | GLI3 | c.3263A>T (p.Asp1088Val) c.3089A>T (p.Asp1030Val) n.3240A>T c.3086A>T (p.Asp1029Val) c.3260A>T (p.Asp1087Val) | gnomAD v4 |
| 7 | g.41965810T>C | CA367318819 | GLI3 | c.3263A>G (p.Asp1088Gly) c.3089A>G (p.Asp1030Gly) n.3240A>G c.3086A>G (p.Asp1029Gly) c.3260A>G (p.Asp1087Gly) | |
| 7 | g.41965810T>G | CA367318818 | GLI3 | c.3263A>C (p.Asp1088Ala) c.3089A>C (p.Asp1030Ala) n.3240A>C c.3086A>C (p.Asp1029Ala) c.3260A>C (p.Asp1087Ala) |