Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41964248A=CA1702660170GLI3c.*82T= (n.*82T=)
n.4802T=
7g.41964248A>GCA1702660171GLI3c.*82T>C (n.*82T>C)
n.4802T>C
 dbSNP gnomAD v4
7g.41964248A>TCA1100623899GLI3c.*82T>A (n.*82T>A)
n.4802T>A
 dbSNP gnomAD v3 gnomAD v4
7g.41964254dupCA838572575GLI3c.*82dup (n.*82dup)
n.4802dup
 dbSNP gnomAD v4
7g.41964254delCA2682510028GLI3c.*82del (n.*82del)
n.4802del
 gnomAD v4
7g.41964249A=CA1702660172GLI3c.*81T= (n.*81T=)
n.4801T=
7g.41964249A>CCA2682510029GLI3c.*81T>G (n.*81T>G)
n.4801T>G
 gnomAD v4
7g.41964249A>TCA573768402GLI3c.*81T>A (n.*81T>A)
n.4801T>A
 dbSNP gnomAD v2 gnomAD v4
7g.41964250A>GCA2682510030GLI3c.*80T>C (n.*80T>C)
n.4800T>C
 gnomAD v4
7g.41964255C>ACA2682510031GLI3c.*75G>T (n.*75G>T)
n.4795G>T
 gnomAD v4
7g.41964255C>TCA2682510032GLI3c.*75G>A (n.*75G>A)
n.4795G>A
 gnomAD v4
7g.41964257G>ACA1139660042GLI3c.*73C>T (n.*73C>T)
n.4793C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.41964257G=CA1702660173GLI3c.*73C= (n.*73C=)
n.4793C=
7g.41964257G>TCA2682510033GLI3c.*73C>A (n.*73C>A)
n.4793C>A
 gnomAD v4
7g.41964258C>ACA2682510034GLI3c.*72G>T (n.*72G>T)
n.4792G>T
 gnomAD v4
7g.41964258C>TCA2682510035GLI3c.*72G>A (n.*72G>A)
n.4792G>A
 gnomAD v4
7g.41964260A=CA1702660174GLI3c.*70T= (n.*70T=)
n.4790T=
7g.41964260A>CCA2578873876GLI3c.*70T>G (n.*70T>G)
n.4790T>G
 gnomAD v4
7g.41964260A>GCA1702660175GLI3c.*70T>C (n.*70T>C)
n.4790T>C
 dbSNP
7g.41964260A>TCA2682510036GLI3c.*70T>A (n.*70T>A)
n.4790T>A
 gnomAD v4
7g.41964264C>ACA10629092GLI3c.*66G>T (n.*66G>T)
n.4786G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964264C=CA1702660176GLI3c.*66G= (n.*66G=)
n.4786G=
7g.41964264C>TCA2682510037GLI3c.*66G>A (n.*66G>A)
n.4786G>A
 gnomAD v4
7g.41964265A=CA1702660177GLI3c.*65T= (n.*65T=)
n.4785T=
7g.41964265A>GCA156901163GLI3c.*65T>C (n.*65T>C)
n.4785T>C
 dbSNP gnomAD v4
7g.41964267delCA2682510038GLI3c.*65del (n.*65del)
n.4785del
 gnomAD v4
7g.41964266_41964267delCA2682510039GLI3c.*64_*65del (n.*64_*65del)
n.4784_4785del
 gnomAD v4
7g.41964268G>TCA2682510040GLI3c.*62C>A (n.*62C>A)
n.4782C>A
 gnomAD v4
7g.41964269T>CCA1702660179GLI3c.*61A>G (n.*61A>G)
n.4781A>G
 dbSNP
7g.41964269T>GCA1702660180GLI3c.*61A>C (n.*61A>C)
n.4781A>C
 dbSNP
7g.41964269T=CA1702660178GLI3c.*61A= (n.*61A=)
n.4781A=
7g.41964270C>GCA2682510041GLI3c.*60G>C (n.*60G>C)
n.4780G>C
 gnomAD v4
7g.41964273T>CCA2682510042GLI3c.*57A>G (n.*57A>G)
n.4777A>G
 gnomAD v4
7g.41964275T>ACA156901205GLI3c.*55A>T (n.*55A>T)
n.4775A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964275T>GCA1100623905GLI3c.*55A>C (n.*55A>C)
n.4775A>C
 dbSNP gnomAD v3 gnomAD v4
7g.41964275T=CA1702660181GLI3c.*55A= (n.*55A=)
n.4775A=
7g.41964276A>TCA2682510043GLI3c.*54T>A (n.*54T>A)
n.4774T>A
 gnomAD v4
7g.41964277A>GCA2775168913GLI3c.*53T>C (n.*53T>C)
n.4773T>C
7g.41964278T>ACA2682510044GLI3c.*52A>T (n.*52A>T)
n.4772A>T
 gnomAD v4
7g.41964279C>ACA2682510045GLI3c.*51G>T (n.*51G>T)
n.4771G>T
 gnomAD v4
7g.41964279C>TCA2682510046GLI3c.*51G>A (n.*51G>A)
n.4771G>A
 gnomAD v4
7g.41964282T>CCA1100623911GLI3c.*48A>G (n.*48A>G)
n.4768A>G
 dbSNP
7g.41964282T=CA1702660182GLI3c.*48A= (n.*48A=)
n.4768A=
7g.41964283T>CCA2682510047GLI3c.*47A>G (n.*47A>G)
n.4767A>G
 gnomAD v4
7g.41964284C>TCA2682510048GLI3c.*46G>A (n.*46G>A)
n.4766G>A
 gnomAD v4
7g.41964286A=CA1702660184GLI3c.*44T= (n.*44T=)
n.4764T=
7g.41964286A>CCA2578873877GLI3c.*44T>G (n.*44T>G)
n.4764T>G
7g.41964286A>GCA573852207GLI3c.*44T>C (n.*44T>C)
n.4764T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964286_41964289delinsACTCCA1702660183GLI3c.*41_*44delinsGAGT (n.*41_*44delinsGAGT)
n.4761_4764delinsGAGT
7g.41964287C=CA1702660185GLI3c.*43G= (n.*43G=)
n.4763G=
7g.41964287C>TCA573852212GLI3c.*43G>A (n.*43G>A)
n.4763G>A
 dbSNP gnomAD v2 gnomAD v4
7g.41964289_41964291delCA4230047GLI3c.*41_*43del (n.*41_*43del)
n.4761_4763del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964288T>GCA2714406610GLI3c.*42A>C (n.*42A>C)
n.4762A>C
 dbSNP
7g.41964288_41964289delinsTCCA1702660186GLI3c.*41_*42delinsGA (n.*41_*42delinsGA)
n.4761_4762delinsGA
7g.41964290delCA4230048GLI3c.*41del (n.*41del)
n.4761del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964290C=CA1702660187GLI3c.*40G= (n.*40G=)
n.4760G=
7g.41964290_41964291insACA1702660188GLI3c.*39_*40insT (n.*39_*40insT)
n.4759_4760insT
 dbSNP gnomAD v4
7g.41964291T>ACA156901221GLI3c.*39A>T (n.*39A>T)
n.4759A>T
 dbSNP gnomAD v4
7g.41964291T>CCA2578873878GLI3c.*39A>G (n.*39A>G)
n.4759A>G
7g.41964291T=CA1702660189GLI3c.*39A= (n.*39A=)
n.4759A=
7g.41964292A>GCA2682510049GLI3c.*38T>C (n.*38T>C)
n.4758T>C
 gnomAD v4
7g.41964293T>CCA573852216GLI3c.*37A>G (n.*37A>G)
n.4757A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41964293T=CA1702660190GLI3c.*37A= (n.*37A=)
n.4757A=
7g.41964295G>ACA4230049GLI3c.*35C>T (n.*35C>T)
n.4755C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964295G=CA1702660191GLI3c.*35C= (n.*35C=)
n.4755C=
7g.41964295G>TCA2682510050GLI3c.*35C>A (n.*35C>A)
n.4755C>A
 gnomAD v4
7g.41964297T>CCA4230050GLI3c.*33A>G (n.*33A>G)
n.4753A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964297T=CA1702660192GLI3c.*33A= (n.*33A=)
n.4753A=
7g.41964300C>ACA4230051GLI3c.*30G>T (n.*30G>T)
n.4750G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964300C=CA1702660193GLI3c.*30G= (n.*30G=)
n.4750G=
7g.41964300C>GCA2580736019GLI3c.*30G>C (n.*30G>C)
n.4750G>C
7g.41964300C>TCA2580736020GLI3c.*30G>A (n.*30G>A)
n.4750G>A
 gnomAD v4
7g.41964301C>ACA2682510051GLI3c.*29G>T (n.*29G>T)
n.4749G>T
 gnomAD v4
7g.41964301C=CA1702660194GLI3c.*29G= (n.*29G=)
n.4749G=
7g.41964301C>TCA4230052GLI3c.*29G>A (n.*29G>A)
n.4749G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964302G>ACA4230053GLI3c.*28C>T (n.*28C>T)
n.4748C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964302G=CA1702660195GLI3c.*28C= (n.*28C=)
n.4748C=
7g.41964302G>TCA1702660196GLI3c.*28C>A (n.*28C>A)
n.4748C>A
 dbSNP gnomAD v4
7g.41964303T>CCA1702660198GLI3c.*27A>G (n.*27A>G)
n.4747A>G
 dbSNP gnomAD v4
7g.41964303T=CA1702660197GLI3c.*27A= (n.*27A=)
n.4747A=
7g.41964305G=CA1702660199GLI3c.*25C= (n.*25C=)
n.4745C=
7g.41964305G>TCA4230054GLI3c.*25C>A (n.*25C>A)
n.4745C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964306G>TCA2682510052GLI3c.*24C>A (n.*24C>A)
n.4744C>A
 gnomAD v4
7g.41964307T>CCA2578873879GLI3c.*23A>G (n.*23A>G)
n.4743A>G
7g.41964309G>ACA2682510053GLI3c.*21C>T (n.*21C>T)
n.4741C>T
 gnomAD v4
7g.41964309G>TCA2682510054GLI3c.*21C>A (n.*21C>A)
n.4741C>A
 gnomAD v4
7g.41964310C=CA1702660200GLI3c.*20G= (n.*20G=)
n.4740G=
7g.41964310C>TCA4230055GLI3c.*20G>A (n.*20G>A)
n.4740G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964311A=CA1702660201GLI3c.*19T= (n.*19T=)
n.4739T=
7g.41964311A>CCA156901279GLI3c.*19T>G (n.*19T>G)
n.4739T>G
 dbSNP gnomAD v3 gnomAD v4
7g.41964312G>ACA1702660203GLI3c.*18C>T (n.*18C>T)
n.4738C>T
 dbSNP gnomAD v4
7g.41964312G=CA1702660202GLI3c.*18C= (n.*18C=)
n.4738C=
7g.41964313T>GCA573852223GLI3c.*17A>C (n.*17A>C)
n.4737A>C
 dbSNP gnomAD v2 gnomAD v4
7g.41964313T=CA1702660204GLI3c.*17A= (n.*17A=)
n.4737A=
7g.41964314C=CA1702660205GLI3c.*16G= (n.*16G=)
n.4736G=
7g.41964315T>CCA1100623932GLI3c.*15A>G (n.*15A>G)
n.4735A>G
 dbSNP gnomAD v3 gnomAD v4
7g.41964315T=CA1702660206GLI3c.*15A= (n.*15A=)
n.4735A=
7g.41964321dupCA10586992GLI3c.*15dup (n.*15dup)
n.4735dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964321delCA573852224GLI3c.*15del (n.*15del)
n.4735del
 gnomAD v2 gnomAD v4
7g.41964317T>GCA2682509302GLI3c.*13A>C (n.*13A>C)
n.4733A>C
 gnomAD v4
7g.41964319T>CCA4230056GLI3c.*11A>G (n.*11A>G)
n.4731A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964319T=CA1702660207GLI3c.*11A= (n.*11A=)
n.4731A=
7g.41964321T>ACA2682509313GLI3c.*9A>T (n.*9A>T)
n.4729A>T
 gnomAD v4
7g.41964321T>CCA4230057GLI3c.*9A>G (n.*9A>G)
n.4729A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964321T>GCA2682509319GLI3c.*9A>C (n.*9A>C)
n.4729A>C
 gnomAD v4
7g.41964321T=CA1702660208GLI3c.*9A= (n.*9A=)
n.4729A=
7g.41964322C>ACA573852228GLI3c.*8G>T (n.*8G>T)
n.4728G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964322C=CA1702660209GLI3c.*8G= (n.*8G=)
n.4728G=
7g.41964322C>GCA1702660210GLI3c.*8G>C (n.*8G>C)
n.4728G>C
 dbSNP gnomAD v3 gnomAD v4
7g.41964322C>TCA838572645GLI3c.*8G>A (n.*8G>A)
n.4728G>A
 dbSNP gnomAD v3 gnomAD v4
7g.41964323_41964330delCA1100623939GLI3c.*1_*8del (n.*1_*8del)
n.4721_4728del
7g.41964325A>GCA2682509327GLI3c.*5T>C (n.*5T>C)
n.4725T>C
 gnomAD v4
7g.41964327A>CCA2682509329GLI3c.*3T>G (n.*3T>G)
n.4723T>G
 gnomAD v4
7g.41964327A>GCA2682509330GLI3c.*3T>C (n.*3T>C)
n.4723T>C
 gnomAD v4
7g.41964329C=CA1702660211GLI3c.*1G= (n.*1G=)
n.4721G=
7g.41964329C>TCA4230058GLI3c.*1G>A (n.*1G>A)
n.4721G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964329_41964330insTTTTTTTTCA1100623946GLI3c.4743_*1insAAAAAAAA (n.4743_*1insAAAAAAAA)
c.4569_*1insAAAAAAAA (n.4569_*1insAAAAAAAA)
n.4720_4721insAAAAAAAA
c.4566_*1insAAAAAAAA (n.4566_*1insAAAAAAAA)
7g.41964330C>ACA367314390GLI3c.4743G>T (p.Ter1581Tyr)
c.4569G>T (p.Ter1523Tyr)
n.4720G>T
c.4566G>T (p.Ter1522Tyr)
c.4740G>T (p.Ter1580Tyr)
 COSMIC
7g.41964330C>GCA367314391GLI3c.4743G>C (p.Ter1581Tyr)
c.4569G>C (p.Ter1523Tyr)
n.4720G>C
c.4566G>C (p.Ter1522Tyr)
c.4740G>C (p.Ter1580Tyr)
7g.41964330C>TCA454656093GLI3c.4743G>A (p.Ter1581=)
c.4569G>A (p.Ter1523=)
n.4720G>A
c.4566G>A (p.Ter1522=)
c.4740G>A (p.Ter1580=)
 gnomAD v4
7g.41964331T>ACA367314392GLI3c.4742A>T (p.Ter1581Leu)
c.4568A>T (p.Ter1523Leu)
n.4719A>T
c.4565A>T (p.Ter1522Leu)
c.4739A>T (p.Ter1580Leu)
7g.41964331T>CCA367314393GLI3c.4742A>G (p.Ter1581Trp)
c.4568A>G (p.Ter1523Trp)
n.4719A>G
c.4565A>G (p.Ter1522Trp)
c.4739A>G (p.Ter1580Trp)
7g.41964331T>GCA367314394GLI3c.4742A>C (p.Ter1581Ser)
c.4568A>C (p.Ter1523Ser)
n.4719A>C
c.4565A>C (p.Ter1522Ser)
c.4739A>C (p.Ter1580Ser)
7g.41964332A=CA1702660212GLI3c.4741T= (p.Ter1581=)
c.4567T= (p.Ter1523=)
n.4718T=
c.4564T= (p.Ter1522=)
c.4738T= (p.Ter1580=)
7g.41964332A>CCA367314396GLI3c.4741T>G (p.Ter1581Glu)
c.4567T>G (p.Ter1523Glu)
n.4718T>G
c.4564T>G (p.Ter1522Glu)
c.4738T>G (p.Ter1580Glu)
7g.41964332A>GCA367314395GLI3c.4741T>C (p.Ter1581Gln)
c.4567T>C (p.Ter1523Gln)
n.4718T>C
c.4564T>C (p.Ter1522Gln)
c.4738T>C (p.Ter1580Gln)
 COSMIC
7g.41964332A>TCA156901323GLI3c.4741T>A (p.Ter1581Lys)
c.4567T>A (p.Ter1523Lys)
n.4718T>A
c.4564T>A (p.Ter1522Lys)
c.4738T>A (p.Ter1580Lys)
 dbSNP
7g.41964333T>ACA367314397GLI3c.4740A>T (p.Gln1580His)
c.4566A>T (p.Gln1522His)
n.4717A>T
c.4563A>T (p.Gln1521His)
c.4737A>T (p.Gln1579His)
7g.41964333T>CCA4230059GLI3c.4740A>G (p.Gln1580=)
c.4566A>G (p.Gln1522=)
n.4717A>G
c.4563A>G (p.Gln1521=)
c.4737A>G (p.Gln1579=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964333T>GCA367314398GLI3c.4740A>C (p.Gln1580His)
c.4566A>C (p.Gln1522His)
n.4717A>C
c.4563A>C (p.Gln1521His)
c.4737A>C (p.Gln1579His)
7g.41964333T=CA1702660213GLI3c.4740A= (p.Gln1580=)
c.4566A= (p.Gln1522=)
n.4717A=
c.4563A= (p.Gln1521=)
c.4737A= (p.Gln1579=)
7g.41964334T>ACA367314399GLI3c.4739A>T (p.Gln1580Leu)
c.4565A>T (p.Gln1522Leu)
n.4716A>T
c.4562A>T (p.Gln1521Leu)
c.4736A>T (p.Gln1579Leu)
7g.41964334T>CCA367314400GLI3c.4739A>G (p.Gln1580Arg)
c.4565A>G (p.Gln1522Arg)
n.4716A>G
c.4562A>G (p.Gln1521Arg)
c.4736A>G (p.Gln1579Arg)
 gnomAD v4
7g.41964334T>GCA367314401GLI3c.4739A>C (p.Gln1580Pro)
c.4565A>C (p.Gln1522Pro)
n.4716A>C
c.4562A>C (p.Gln1521Pro)
c.4736A>C (p.Gln1579Pro)
7g.41964335G>ACA367314402GLI3c.4738C>T (p.Gln1580Ter)
c.4564C>T (p.Gln1522Ter)
n.4715C>T
c.4561C>T (p.Gln1521Ter)
c.4735C>T (p.Gln1579Ter)
 gnomAD v4
7g.41964335G>CCA367314403GLI3c.4738C>G (p.Gln1580Glu)
c.4564C>G (p.Gln1522Glu)
n.4715C>G
c.4561C>G (p.Gln1521Glu)
c.4735C>G (p.Gln1579Glu)
7g.41964335G>TCA367314404GLI3c.4738C>A (p.Gln1580Lys)
c.4564C>A (p.Gln1522Lys)
n.4715C>A
c.4561C>A (p.Gln1521Lys)
c.4735C>A (p.Gln1579Lys)
7g.41964336C>ACA367314405GLI3c.4737G>T (p.Met1579Ile)
c.4563G>T (p.Met1521Ile)
n.4714G>T
c.4560G>T (p.Met1520Ile)
c.4734G>T (p.Met1578Ile)
 COSMIC
7g.41964336C>GCA367314406GLI3c.4737G>C (p.Met1579Ile)
c.4563G>C (p.Met1521Ile)
n.4714G>C
c.4560G>C (p.Met1520Ile)
c.4734G>C (p.Met1578Ile)
7g.41964336C>TCA367314407GLI3c.4737G>A (p.Met1579Ile)
c.4563G>A (p.Met1521Ile)
n.4714G>A
c.4560G>A (p.Met1520Ile)
c.4734G>A (p.Met1578Ile)
 gnomAD v4
7g.41964337A=CA1702660214GLI3c.4736T= (p.Met1579=)
c.4562T= (p.Met1521=)
n.4713T=
c.4559T= (p.Met1520=)
c.4733T= (p.Met1578=)
7g.41964337A>CCA367314409GLI3c.4736T>G (p.Met1579Arg)
c.4562T>G (p.Met1521Arg)
n.4713T>G
c.4559T>G (p.Met1520Arg)
c.4733T>G (p.Met1578Arg)
 gnomAD v4
7g.41964337A>GCA367314410GLI3c.4736T>C (p.Met1579Thr)
c.4562T>C (p.Met1521Thr)
n.4713T>C
c.4559T>C (p.Met1520Thr)
c.4733T>C (p.Met1578Thr)
 dbSNP gnomAD v4
7g.41964337A>TCA367314408GLI3c.4736T>A (p.Met1579Lys)
c.4562T>A (p.Met1521Lys)
n.4713T>A
c.4559T>A (p.Met1520Lys)
c.4733T>A (p.Met1578Lys)
7g.41964338T>ACA4230060GLI3c.4735A>T (p.Met1579Leu)
c.4561A>T (p.Met1521Leu)
n.4712A>T
c.4558A>T (p.Met1520Leu)
c.4732A>T (p.Met1578Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964338T>CCA367314411GLI3c.4735A>G (p.Met1579Val)
c.4561A>G (p.Met1521Val)
n.4712A>G
c.4558A>G (p.Met1520Val)
c.4732A>G (p.Met1578Val)
7g.41964338T>GCA367314412GLI3c.4735A>C (p.Met1579Leu)
c.4561A>C (p.Met1521Leu)
n.4712A>C
c.4558A>C (p.Met1520Leu)
c.4732A>C (p.Met1578Leu)
7g.41964338T=CA1702660216GLI3c.4735A= (p.Met1579=)
c.4561A= (p.Met1521=)
n.4712A=
c.4558A= (p.Met1520=)
c.4732A= (p.Met1578=)
7g.41964338dupCA1702660215GLI3c.4735dup (p.Met1579AsnfsTer19)
c.4561dup (p.Met1521AsnfsTer19)
n.4712dup
c.4558dup (p.Met1520AsnfsTer19)
c.4558dup (p.Met1520AsnfsTer?)
c.4732dup (p.Met1578AsnfsTer?)
 dbSNP
7g.41964339A=CA1702660217GLI3c.4734T= (p.Val1578=)
c.4560T= (p.Val1520=)
n.4711T=
c.4557T= (p.Val1519=)
c.4731T= (p.Val1577=)
7g.41964339A>CCA454656096GLI3c.4734T>G (p.Val1578=)
c.4560T>G (p.Val1520=)
n.4711T>G
c.4557T>G (p.Val1519=)
c.4731T>G (p.Val1577=)
7g.41964339A>GCA454656095GLI3c.4734T>C (p.Val1578=)
c.4560T>C (p.Val1520=)
n.4711T>C
c.4557T>C (p.Val1519=)
c.4731T>C (p.Val1577=)
7g.41964339A>TCA4230061GLI3c.4734T>A (p.Val1578=)
c.4560T>A (p.Val1520=)
n.4711T>A
c.4557T>A (p.Val1519=)
c.4731T>A (p.Val1577=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964340A=CA1702660218GLI3c.4733T= (p.Val1578=)
c.4559T= (p.Val1520=)
n.4710T=
c.4556T= (p.Val1519=)
c.4730T= (p.Val1577=)
7g.41964340A>CCA4230062GLI3c.4733T>G (p.Val1578Gly)
c.4559T>G (p.Val1520Gly)
n.4710T>G
c.4556T>G (p.Val1519Gly)
c.4730T>G (p.Val1577Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964340A>GCA367314413GLI3c.4733T>C (p.Val1578Ala)
c.4559T>C (p.Val1520Ala)
n.4710T>C
c.4556T>C (p.Val1519Ala)
c.4730T>C (p.Val1577Ala)
7g.41964340A>TCA367314414GLI3c.4733T>A (p.Val1578Asp)
c.4559T>A (p.Val1520Asp)
n.4710T>A
c.4556T>A (p.Val1519Asp)
c.4730T>A (p.Val1577Asp)
7g.41964341C>ACA367314415GLI3c.4732G>T (p.Val1578Phe)
c.4558G>T (p.Val1520Phe)
n.4709G>T
c.4555G>T (p.Val1519Phe)
c.4729G>T (p.Val1577Phe)
7g.41964341C=CA1702660219GLI3c.4732G= (p.Val1578=)
c.4558G= (p.Val1520=)
n.4709G=
c.4555G= (p.Val1519=)
c.4729G= (p.Val1577=)
7g.41964341C>GCA367314416GLI3c.4732G>C (p.Val1578Leu)
c.4558G>C (p.Val1520Leu)
n.4709G>C
c.4555G>C (p.Val1519Leu)
c.4729G>C (p.Val1577Leu)
7g.41964341C>TCA4230063GLI3c.4732G>A (p.Val1578Ile)
c.4558G>A (p.Val1520Ile)
n.4709G>A
c.4555G>A (p.Val1519Ile)
c.4729G>A (p.Val1577Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964342T>ACA454656100GLI3c.4731A>T (p.Ala1577=)
c.4557A>T (p.Ala1519=)
n.4708A>T
c.4554A>T (p.Ala1518=)
c.4728A>T (p.Ala1576=)
7g.41964342T>CCA4230064GLI3c.4731A>G (p.Ala1577=)
c.4557A>G (p.Ala1519=)
n.4708A>G
c.4554A>G (p.Ala1518=)
c.4728A>G (p.Ala1576=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964342T>GCA454656104GLI3c.4731A>C (p.Ala1577=)
c.4557A>C (p.Ala1519=)
n.4708A>C
c.4554A>C (p.Ala1518=)
c.4728A>C (p.Ala1576=)
7g.41964342T=CA1702660220GLI3c.4731A= (p.Ala1577=)
c.4557A= (p.Ala1519=)
n.4708A=
c.4554A= (p.Ala1518=)
c.4728A= (p.Ala1576=)
7g.41964343G>ACA367314417GLI3c.4730C>T (p.Ala1577Val)
c.4556C>T (p.Ala1519Val)
n.4707C>T
c.4553C>T (p.Ala1518Val)
c.4727C>T (p.Ala1576Val)
7g.41964343G>CCA367314418GLI3c.4730C>G (p.Ala1577Gly)
c.4556C>G (p.Ala1519Gly)
n.4707C>G
c.4553C>G (p.Ala1518Gly)
c.4727C>G (p.Ala1576Gly)
7g.41964343G=CA1702660221GLI3c.4730C= (p.Ala1577=)
c.4556C= (p.Ala1519=)
n.4707C=
c.4553C= (p.Ala1518=)
c.4727C= (p.Ala1576=)
7g.41964343G>TCA367314419GLI3c.4730C>A (p.Ala1577Glu)
c.4556C>A (p.Ala1519Glu)
n.4707C>A
c.4553C>A (p.Ala1518Glu)
c.4727C>A (p.Ala1576Glu)
 dbSNP gnomAD v3 gnomAD v4
7g.41964344C>ACA367314420GLI3c.4729G>T (p.Ala1577Ser)
c.4555G>T (p.Ala1519Ser)
n.4706G>T
c.4552G>T (p.Ala1518Ser)
c.4726G>T (p.Ala1576Ser)
 dbSNP gnomAD v2
7g.41964344C=CA1702660222GLI3c.4729G= (p.Ala1577=)
c.4555G= (p.Ala1519=)
n.4706G=
c.4552G= (p.Ala1518=)
c.4726G= (p.Ala1576=)
7g.41964344C>GCA367314422GLI3c.4729G>C (p.Ala1577Pro)
c.4555G>C (p.Ala1519Pro)
n.4706G>C
c.4552G>C (p.Ala1518Pro)
c.4726G>C (p.Ala1576Pro)
7g.41964344C>TCA367314421GLI3c.4729G>A (p.Ala1577Thr)
c.4555G>A (p.Ala1519Thr)
n.4706G>A
c.4552G>A (p.Ala1518Thr)
c.4726G>A (p.Ala1576Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.41964345A>CCA454656108GLI3c.4728T>G (p.Leu1576=)
c.4554T>G (p.Leu1518=)
n.4705T>G
c.4551T>G (p.Leu1517=)
c.4725T>G (p.Leu1575=)
7g.41964345A>GCA454656106GLI3c.4728T>C (p.Leu1576=)
c.4554T>C (p.Leu1518=)
n.4705T>C
c.4551T>C (p.Leu1517=)
c.4725T>C (p.Leu1575=)
7g.41964345A>TCA454656107GLI3c.4728T>A (p.Leu1576=)
c.4554T>A (p.Leu1518=)
n.4705T>A
c.4551T>A (p.Leu1517=)
c.4725T>A (p.Leu1575=)
7g.41964346A>CCA367314423GLI3c.4727T>G (p.Leu1576Arg)
c.4553T>G (p.Leu1518Arg)
n.4704T>G
c.4550T>G (p.Leu1517Arg)
c.4724T>G (p.Leu1575Arg)
7g.41964346A>GCA367314424GLI3c.4727T>C (p.Leu1576Pro)
c.4553T>C (p.Leu1518Pro)
n.4704T>C
c.4550T>C (p.Leu1517Pro)
c.4724T>C (p.Leu1575Pro)
7g.41964346A>TCA367314425GLI3c.4727T>A (p.Leu1576His)
c.4553T>A (p.Leu1518His)
n.4704T>A
c.4550T>A (p.Leu1517His)
c.4724T>A (p.Leu1575His)
7g.41964347G>ACA367314426GLI3c.4726C>T (p.Leu1576Phe)
c.4552C>T (p.Leu1518Phe)
n.4703C>T
c.4549C>T (p.Leu1517Phe)
c.4723C>T (p.Leu1575Phe)
 gnomAD v4
7g.41964347G>CCA367314427GLI3c.4726C>G (p.Leu1576Val)
c.4552C>G (p.Leu1518Val)
n.4703C>G
c.4549C>G (p.Leu1517Val)
c.4723C>G (p.Leu1575Val)
 dbSNP gnomAD v2 gnomAD v4
7g.41964347G=CA1702660223GLI3c.4726C= (p.Leu1576=)
c.4552C= (p.Leu1518=)
n.4703C=
c.4549C= (p.Leu1517=)
c.4723C= (p.Leu1575=)
7g.41964347G>TCA367314428GLI3c.4726C>A (p.Leu1576Ile)
c.4552C>A (p.Leu1518Ile)
n.4703C>A
c.4549C>A (p.Leu1517Ile)
c.4723C>A (p.Leu1575Ile)
 COSMIC
7g.41964348G>ACA454656110GLI3c.4725C>T (p.Phe1575=)
c.4551C>T (p.Phe1517=)
n.4702C>T
c.4548C>T (p.Phe1516=)
c.4722C>T (p.Phe1574=)
 COSMIC
7g.41964348G>CCA367314429GLI3c.4725C>G (p.Phe1575Leu)
c.4551C>G (p.Phe1517Leu)
n.4702C>G
c.4548C>G (p.Phe1516Leu)
c.4722C>G (p.Phe1574Leu)
7g.41964348G>TCA367314430GLI3c.4725C>A (p.Phe1575Leu)
c.4551C>A (p.Phe1517Leu)
n.4702C>A
c.4548C>A (p.Phe1516Leu)
c.4722C>A (p.Phe1574Leu)
 gnomAD v4
7g.41964348_41964757delinsGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTATGATGGCATCGAAGTCAATCTGTACCCCTTCCAGGTCATGGCTGTCGAGGCTGTCCACTGTGCTTGTCACCTGATTAGCACCTGGGGAAAGTAACTCAGAGTTTTTGGCGCTGGTCCCCTGTAGCAGGCAGCTGGCGTCTGAAATAGAGAATGAACCAGCTTTCGTGTCTTGCTGACTGAAGCCCACGGTTTGGTCATAGAACTGACCAGAGTCA1702660224GLI3c.4316_4725delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1439=)
c.4142_4551delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1381=)
n.4293_4702delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC
c.4139_4548delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1380=)
c.4313_4722delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1438=)

Number of alleles fetched