Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.42040040G>ACA454532012GLI3c.1026C>T (p.Ile342=)
c.849C>T (p.Ile283=)
n.1003C>T
c.1023C>T (p.Ile341=)
7g.42040040G>CCA367328369GLI3c.1026C>G (p.Ile342Met)
c.849C>G (p.Ile283Met)
n.1003C>G
c.1023C>G (p.Ile341Met)
gnomAD v4
7g.42040040G>TCA454532019GLI3c.1026C>A (p.Ile342=)
c.849C>A (p.Ile283=)
n.1003C>A
c.1023C>A (p.Ile341=)
7g.42040041A>CCA367328378GLI3c.1025T>G (p.Ile342Ser)
c.848T>G (p.Ile283Ser)
n.1002T>G
c.1022T>G (p.Ile341Ser)
7g.42040041A>GCA367328371GLI3c.1025T>C (p.Ile342Thr)
c.848T>C (p.Ile283Thr)
n.1002T>C
c.1022T>C (p.Ile341Thr)
7g.42040041A>TCA367328370GLI3c.1025T>A (p.Ile342Asn)
c.848T>A (p.Ile283Asn)
n.1002T>A
c.1022T>A (p.Ile341Asn)
7g.42040042T>ACA367328380GLI3c.1024A>T (p.Ile342Phe)
c.847A>T (p.Ile283Phe)
n.1001A>T
c.1021A>T (p.Ile341Phe)
7g.42040042T>CCA4230997GLI3c.1024A>G (p.Ile342Val)
c.847A>G (p.Ile283Val)
n.1001A>G
c.1021A>G (p.Ile341Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040042T>GCA367328385GLI3c.1024A>C (p.Ile342Leu)
c.847A>C (p.Ile283Leu)
n.1001A>C
c.1021A>C (p.Ile341Leu)
7g.42040042T=CA1702691028GLI3c.1024A= (p.Ile342=)
c.847A= (p.Ile283=)
n.1001A=
c.1021A= (p.Ile341=)
7g.42040043T>ACA454532025GLI3c.1023A>T (p.Ala341=)
c.846A>T (p.Ala282=)
n.1000A>T
c.1020A>T (p.Ala340=)
7g.42040043T>CCA454532031GLI3c.1023A>G (p.Ala341=)
c.846A>G (p.Ala282=)
n.1000A>G
c.1020A>G (p.Ala340=)
7g.42040043T>GCA454532029GLI3c.1023A>C (p.Ala341=)
c.846A>C (p.Ala282=)
n.1000A>C
c.1020A>C (p.Ala340=)
7g.42040044G>ACA367328389GLI3c.1022C>T (p.Ala341Val)
c.845C>T (p.Ala282Val)
n.999C>T
c.1019C>T (p.Ala340Val)
7g.42040044G>CCA367328392GLI3c.1022C>G (p.Ala341Gly)
c.845C>G (p.Ala282Gly)
n.999C>G
c.1019C>G (p.Ala340Gly)
7g.42040044G>TCA367328395GLI3c.1022C>A (p.Ala341Glu)
c.845C>A (p.Ala282Glu)
n.999C>A
c.1019C>A (p.Ala340Glu)
gnomAD v4
7g.42040044_42040045insTCA645567068GLI3c.1021_1022insA (p.Ala341AspfsTer?)
c.844_845insA (p.Ala282AspfsTer?)
n.998_999insA
c.1018_1019insA (p.Ala340AspfsTer?)
COSMIC
7g.42040045C>ACA367328400GLI3c.1021G>T (p.Ala341Ser)
c.844G>T (p.Ala282Ser)
n.998G>T
c.1018G>T (p.Ala340Ser)
dbSNP gnomAD v2 gnomAD v4
7g.42040045C=CA1702691033GLI3c.1021G= (p.Ala341=)
c.844G= (p.Ala282=)
n.998G=
c.1018G= (p.Ala340=)
7g.42040045C>GCA367328404GLI3c.1021G>C (p.Ala341Pro)
c.844G>C (p.Ala282Pro)
n.998G>C
c.1018G>C (p.Ala340Pro)
7g.42040045C>TCA4230998GLI3c.1021G>A (p.Ala341Thr)
c.844G>A (p.Ala282Thr)
n.998G>A
c.1018G>A (p.Ala340Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040046A>CCA367328408GLI3c.1020T>G (p.Ser340Arg)
c.843T>G (p.Ser281Arg)
n.997T>G
c.1017T>G (p.Ser339Arg)
7g.42040046A>GCA454532044GLI3c.1020T>C (p.Ser340=)
c.843T>C (p.Ser281=)
n.997T>C
c.1017T>C (p.Ser339=)
7g.42040046A>TCA367328410GLI3c.1020T>A (p.Ser340Arg)
c.843T>A (p.Ser281Arg)
n.997T>A
c.1017T>A (p.Ser339Arg)
7g.42040047C>ACA367328414GLI3c.1019G>T (p.Ser340Ile)
c.842G>T (p.Ser281Ile)
n.996G>T
c.1016G>T (p.Ser339Ile)
7g.42040047C>GCA367328419GLI3c.1019G>C (p.Ser340Thr)
c.842G>C (p.Ser281Thr)
n.996G>C
c.1016G>C (p.Ser339Thr)
7g.42040047C>TCA367328417GLI3c.1019G>A (p.Ser340Asn)
c.842G>A (p.Ser281Asn)
n.996G>A
c.1016G>A (p.Ser339Asn)
7g.42040047_42040048delinsCTCA1702691043GLI3c.1018_1019delinsAG (p.Ser340=)
c.841_842delinsAG (p.Ser281=)
n.995_996delinsAG
c.1015_1016delinsAG (p.Ser339=)
7g.42040048T>ACA4230999GLI3c.1018A>T (p.Ser340Cys)
c.841A>T (p.Ser281Cys)
n.995A>T
c.1015A>T (p.Ser339Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040048T>CCA367328421GLI3c.1018A>G (p.Ser340Gly)
c.841A>G (p.Ser281Gly)
n.995A>G
c.1015A>G (p.Ser339Gly)
gnomAD v4
7g.42040048T>GCA367328422GLI3c.1018A>C (p.Ser340Arg)
c.841A>C (p.Ser281Arg)
n.995A>C
c.1015A>C (p.Ser339Arg)
COSMIC
7g.42040048T=CA1702691054GLI3c.1018A= (p.Ser340=)
c.841A= (p.Ser281=)
n.995A=
c.1015A= (p.Ser339=)
7g.42040049delCA913186019GLI3c.1018del (p.Ser340ValfsTer7)
c.841del (p.Ser281ValfsTer7)
n.995del
c.1015del (p.Ser339ValfsTer7)
ClinVar dbSNP
7g.42040049T>ACA454533025GLI3c.1017A>T (p.Ala339=)
c.840A>T (p.Ala280=)
n.994A>T
c.1014A>T (p.Ala338=)
7g.42040049T>CCA454533036GLI3c.1017A>G (p.Ala339=)
c.840A>G (p.Ala280=)
n.994A>G
c.1014A>G (p.Ala338=)
7g.42040049T>GCA454533039GLI3c.1017A>C (p.Ala339=)
c.840A>C (p.Ala280=)
n.994A>C
c.1014A>C (p.Ala338=)
7g.42040050G>ACA367329173GLI3c.1016C>T (p.Ala339Val)
c.839C>T (p.Ala280Val)
n.993C>T
c.1013C>T (p.Ala338Val)
gnomAD v4
7g.42040050G>CCA367329176GLI3c.1016C>G (p.Ala339Gly)
c.839C>G (p.Ala280Gly)
n.993C>G
c.1013C>G (p.Ala338Gly)
7g.42040050G>TCA367329178GLI3c.1016C>A (p.Ala339Glu)
c.839C>A (p.Ala280Glu)
n.993C>A
c.1013C>A (p.Ala338Glu)
gnomAD v4
7g.42040051C>ACA367329182GLI3c.1015G>T (p.Ala339Ser)
c.838G>T (p.Ala280Ser)
n.992G>T
c.1012G>T (p.Ala338Ser)
7g.42040051C>GCA367329184GLI3c.1015G>C (p.Ala339Pro)
c.838G>C (p.Ala280Pro)
n.992G>C
c.1012G>C (p.Ala338Pro)
7g.42040051C>TCA367329186GLI3c.1015G>A (p.Ala339Thr)
c.838G>A (p.Ala280Thr)
n.992G>A
c.1012G>A (p.Ala338Thr)
COSMIC
7g.42040052A>CCA454533056GLI3c.1014T>G (p.Ser338=)
c.837T>G (p.Ser279=)
n.991T>G
c.1011T>G (p.Ser337=)
7g.42040052A>GCA454533050GLI3c.1014T>C (p.Ser338=)
c.837T>C (p.Ser279=)
n.991T>C
c.1011T>C (p.Ser337=)
7g.42040052A>TCA454533052GLI3c.1014T>A (p.Ser338=)
c.837T>A (p.Ser279=)
n.991T>A
c.1011T>A (p.Ser337=)
7g.42040053G>ACA367329188GLI3c.1013C>T (p.Ser338Phe)
c.836C>T (p.Ser279Phe)
n.990C>T
c.1010C>T (p.Ser337Phe)
7g.42040053G>CCA367329190GLI3c.1013C>G (p.Ser338Cys)
c.836C>G (p.Ser279Cys)
n.990C>G
c.1010C>G (p.Ser337Cys)
7g.42040053G>TCA367329192GLI3c.1013C>A (p.Ser338Tyr)
c.836C>A (p.Ser279Tyr)
n.990C>A
c.1010C>A (p.Ser337Tyr)
7g.42040054A>CCA367329199GLI3c.1012T>G (p.Ser338Ala)
c.835T>G (p.Ser279Ala)
n.989T>G
c.1009T>G (p.Ser337Ala)
7g.42040054A>GCA367329196GLI3c.1012T>C (p.Ser338Pro)
c.835T>C (p.Ser279Pro)
n.989T>C
c.1009T>C (p.Ser337Pro)
dbSNP
7g.42040054A>TCA367329195GLI3c.1012T>A (p.Ser338Thr)
c.835T>A (p.Ser279Thr)
n.989T>A
c.1009T>A (p.Ser337Thr)
7g.42040055T>ACA367329201GLI3c.1011A>T (p.Leu337Phe)
c.834A>T (p.Leu278Phe)
n.988A>T
c.1008A>T (p.Leu336Phe)
7g.42040055T>CCA454533070GLI3c.1011A>G (p.Leu337=)
c.834A>G (p.Leu278=)
n.988A>G
c.1008A>G (p.Leu336=)
7g.42040055T>GCA367329203GLI3c.1011A>C (p.Leu337Phe)
c.834A>C (p.Leu278Phe)
n.988A>C
c.1008A>C (p.Leu336Phe)
7g.42040056A>CCA367329206GLI3c.1010T>G (p.Leu337Ter)
c.833T>G (p.Leu278Ter)
n.987T>G
c.1007T>G (p.Leu336Ter)
7g.42040056A>GCA367329208GLI3c.1010T>C (p.Leu337Ser)
c.833T>C (p.Leu278Ser)
n.987T>C
c.1007T>C (p.Leu336Ser)
7g.42040056A>TCA367329211GLI3c.1010T>A (p.Leu337Ter)
c.833T>A (p.Leu278Ter)
n.987T>A
c.1007T>A (p.Leu336Ter)
7g.42040057A=CA1702691060GLI3c.1009T= (p.Leu337=)
c.832T= (p.Leu278=)
n.986T=
c.1006T= (p.Leu336=)
7g.42040057A>CCA367329213GLI3c.1009T>G (p.Leu337Val)
c.832T>G (p.Leu278Val)
n.986T>G
c.1006T>G (p.Leu336Val)
7g.42040057A>GCA4231000GLI3c.1009T>C (p.Leu337=)
c.832T>C (p.Leu278=)
n.986T>C
c.1006T>C (p.Leu336=)
dbSNP ExAC gnomAD v3 gnomAD v4
7g.42040057A>TCA367329216GLI3c.1009T>A (p.Leu337Ile)
c.832T>A (p.Leu278Ile)
n.986T>A
c.1006T>A (p.Leu336Ile)
7g.42040058G>ACA454533087GLI3c.1008C>T (p.His336=)
c.831C>T (p.His277=)
n.985C>T
c.1005C>T (p.His335=)
dbSNP
7g.42040058G>CCA367329219GLI3c.1008C>G (p.His336Gln)
c.831C>G (p.His277Gln)
n.985C>G
c.1005C>G (p.His335Gln)
7g.42040058G=CA1702691066GLI3c.1008C= (p.His336=)
c.831C= (p.His277=)
n.985C=
c.1005C= (p.His335=)
7g.42040058G>TCA367329221GLI3c.1008C>A (p.His336Gln)
c.831C>A (p.His277Gln)
n.985C>A
c.1005C>A (p.His335Gln)
ClinVar dbSNP
7g.42040059_42040060dupCA2695207667GLI3c.1007_1008dup (p.Leu337ThrfsTer11)
c.830_831dup (p.Leu278ThrfsTer11)
n.984_985dup
c.1004_1005dup (p.Leu336ThrfsTer11)
7g.42040059T>ACA367329224GLI3c.1007A>T (p.His336Leu)
c.830A>T (p.His277Leu)
n.984A>T
c.1004A>T (p.His335Leu)
7g.42040059T>CCA367329227GLI3c.1007A>G (p.His336Arg)
c.830A>G (p.His277Arg)
n.984A>G
c.1004A>G (p.His335Arg)
gnomAD v4
7g.42040059T>GCA367329229GLI3c.1007A>C (p.His336Pro)
c.830A>C (p.His277Pro)
n.984A>C
c.1004A>C (p.His335Pro)
7g.42040060G>ACA367329234GLI3c.1006C>T (p.His336Tyr)
c.829C>T (p.His277Tyr)
n.983C>T
c.1003C>T (p.His335Tyr)
7g.42040060G>CCA367329235GLI3c.1006C>G (p.His336Asp)
c.829C>G (p.His277Asp)
n.983C>G
c.1003C>G (p.His335Asp)
7g.42040060G>TCA367329232GLI3c.1006C>A (p.His336Asn)
c.829C>A (p.His277Asn)
n.983C>A
c.1003C>A (p.His335Asn)
gnomAD v4
7g.42040061A>CCA454533115GLI3c.1005T>G (p.Gly335=)
c.828T>G (p.Gly276=)
n.982T>G
c.1002T>G (p.Gly334=)
7g.42040061A>GCA454533118GLI3c.1005T>C (p.Gly335=)
c.828T>C (p.Gly276=)
n.982T>C
c.1002T>C (p.Gly334=)
7g.42040061A>TCA454533121GLI3c.1005T>A (p.Gly335=)
c.828T>A (p.Gly276=)
n.982T>A
c.1002T>A (p.Gly334=)
7g.42040062C>ACA367329238GLI3c.1004G>T (p.Gly335Val)
c.827G>T (p.Gly276Val)
n.981G>T
c.1001G>T (p.Gly334Val)
7g.42040062C>GCA367329240GLI3c.1004G>C (p.Gly335Ala)
c.827G>C (p.Gly276Ala)
n.981G>C
c.1001G>C (p.Gly334Ala)
7g.42040062C>TCA367329242GLI3c.1004G>A (p.Gly335Asp)
c.827G>A (p.Gly276Asp)
n.981G>A
c.1001G>A (p.Gly334Asp)
7g.42040063delCA2682511708GLI3c.1004del (p.Gly335ValfsTer12)
c.827del (p.Gly276ValfsTer12)
n.981del
c.1001del (p.Gly334ValfsTer12)
gnomAD v4
7g.42040063C>ACA367329245GLI3c.1003G>T (p.Gly335Cys)
c.826G>T (p.Gly276Cys)
n.980G>T
c.1000G>T (p.Gly334Cys)
7g.42040063C>GCA367329247GLI3c.1003G>C (p.Gly335Arg)
c.826G>C (p.Gly276Arg)
n.980G>C
c.1000G>C (p.Gly334Arg)
7g.42040063C>TCA367329249GLI3c.1003G>A (p.Gly335Ser)
c.826G>A (p.Gly276Ser)
n.980G>A
c.1000G>A (p.Gly334Ser)
7g.42040064A=CA1702691078GLI3c.1002T= (p.Tyr334=)
c.825T= (p.Tyr275=)
n.979T=
c.999T= (p.Tyr333=)
7g.42040064A>CCA367329252GLI3c.1002T>G (p.Tyr334Ter)
c.825T>G (p.Tyr275Ter)
n.979T>G
c.999T>G (p.Tyr333Ter)
7g.42040064A>GCA4231001GLI3c.1002T>C (p.Tyr334=)
c.825T>C (p.Tyr275=)
n.979T>C
c.999T>C (p.Tyr333=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040064A>TCA367329256GLI3c.1002T>A (p.Tyr334Ter)
c.825T>A (p.Tyr275Ter)
n.979T>A
c.999T>A (p.Tyr333Ter)
ClinVar dbSNP
7g.42040065T>ACA367329258GLI3c.1001A>T (p.Tyr334Phe)
c.824A>T (p.Tyr275Phe)
n.978A>T
c.998A>T (p.Tyr333Phe)
7g.42040065T>CCA4231002GLI3c.1001A>G (p.Tyr334Cys)
c.824A>G (p.Tyr275Cys)
n.978A>G
c.998A>G (p.Tyr333Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040065T>GCA367329262GLI3c.1001A>C (p.Tyr334Ser)
c.824A>C (p.Tyr275Ser)
n.978A>C
c.998A>C (p.Tyr333Ser)
7g.42040065T=CA1702691082GLI3c.1001A= (p.Tyr334=)
c.824A= (p.Tyr275=)
n.978A=
c.998A= (p.Tyr333=)
7g.42040066A>CCA367329269GLI3c.1000T>G (p.Tyr334Asp)
c.823T>G (p.Tyr275Asp)
n.977T>G
c.997T>G (p.Tyr333Asp)
7g.42040066A>GCA367329266GLI3c.1000T>C (p.Tyr334His)
c.823T>C (p.Tyr275His)
n.977T>C
c.997T>C (p.Tyr333His)
7g.42040066A>TCA367329268GLI3c.1000T>A (p.Tyr334Asn)
c.823T>A (p.Tyr275Asn)
n.977T>A
c.997T>A (p.Tyr333Asn)
7g.42040067G>ACA4231003GLI3c.999C>T (p.Ser333=)
c.822C>T (p.Ser274=)
n.976C>T
c.996C>T (p.Ser332=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040067G>CCA454533164GLI3c.999C>G (p.Ser333=)
c.822C>G (p.Ser274=)
n.976C>G
c.996C>G (p.Ser332=)
7g.42040067G=CA1702691088GLI3c.999C= (p.Ser333=)
c.822C= (p.Ser274=)
n.976C=
c.996C= (p.Ser332=)
7g.42040067G>TCA454533169GLI3c.999C>A (p.Ser333=)
c.822C>A (p.Ser274=)
n.976C>A
c.996C>A (p.Ser332=)
7g.42040068G>ACA367329279GLI3c.998C>T (p.Ser333Phe)
c.821C>T (p.Ser274Phe)
n.975C>T
c.995C>T (p.Ser332Phe)
7g.42040068G>CCA367329282GLI3c.998C>G (p.Ser333Cys)
c.821C>G (p.Ser274Cys)
n.975C>G
c.995C>G (p.Ser332Cys)
7g.42040068G>TCA367329283GLI3c.998C>A (p.Ser333Tyr)
c.821C>A (p.Ser274Tyr)
n.975C>A
c.995C>A (p.Ser332Tyr)
7g.42040069_42040070dupCA2695207668GLI3c.997_998dup (p.Tyr334ProfsTer14)
c.820_821dup (p.Tyr275ProfsTer14)
n.974_975dup
c.994_995dup (p.Tyr333ProfsTer14)
7g.42040069A>CCA367329286GLI3c.997T>G (p.Ser333Ala)
c.820T>G (p.Ser274Ala)
n.974T>G
c.994T>G (p.Ser332Ala)
7g.42040069A>GCA367329288GLI3c.997T>C (p.Ser333Pro)
c.820T>C (p.Ser274Pro)
n.974T>C
c.994T>C (p.Ser332Pro)
7g.42040069A>TCA367329290GLI3c.997T>A (p.Ser333Thr)
c.820T>A (p.Ser274Thr)
n.974T>A
c.994T>A (p.Ser332Thr)
7g.42040070G>ACA454533188GLI3c.996C>T (p.Gly332=)
c.819C>T (p.Gly273=)
n.973C>T
c.993C>T (p.Gly331=)
gnomAD v4
7g.42040070G>CCA454533191GLI3c.996C>G (p.Gly332=)
c.819C>G (p.Gly273=)
n.973C>G
c.993C>G (p.Gly331=)
7g.42040070G>TCA454533193GLI3c.996C>A (p.Gly332=)
c.819C>A (p.Gly273=)
n.973C>A
c.993C>A (p.Gly331=)
7g.42040071C>ACA367329292GLI3c.995G>T (p.Gly332Val)
c.818G>T (p.Gly273Val)
n.972G>T
c.992G>T (p.Gly331Val)
COSMIC
7g.42040071C>GCA367329295GLI3c.995G>C (p.Gly332Ala)
c.818G>C (p.Gly273Ala)
n.972G>C
c.992G>C (p.Gly331Ala)
gnomAD v4
7g.42040071C>TCA367329297GLI3c.995G>A (p.Gly332Asp)
c.818G>A (p.Gly273Asp)
n.972G>A
c.992G>A (p.Gly331Asp)
7g.42040072C>ACA367329308GLI3c.994G>T (p.Gly332Cys)
c.817G>T (p.Gly273Cys)
n.971G>T
c.991G>T (p.Gly331Cys)
7g.42040072C>GCA367329306GLI3c.994G>C (p.Gly332Arg)
c.817G>C (p.Gly273Arg)
n.971G>C
c.991G>C (p.Gly331Arg)
COSMIC
7g.42040072C>TCA367329300GLI3c.994G>A (p.Gly332Ser)
c.817G>A (p.Gly273Ser)
n.971G>A
c.991G>A (p.Gly331Ser)
COSMIC
7g.42040073A>CCA367329311GLI3c.993T>G (p.Ser331Arg)
c.816T>G (p.Ser272Arg)
n.970T>G
c.990T>G (p.Ser330Arg)
7g.42040073A>GCA454533216GLI3c.993T>C (p.Ser331=)
c.816T>C (p.Ser272=)
n.970T>C
c.990T>C (p.Ser330=)
7g.42040073A>TCA367329312GLI3c.993T>A (p.Ser331Arg)
c.816T>A (p.Ser272Arg)
n.970T>A
c.990T>A (p.Ser330Arg)
7g.42040074C>ACA367329316GLI3c.992G>T (p.Ser331Ile)
c.815G>T (p.Ser272Ile)
n.969G>T
c.989G>T (p.Ser330Ile)
7g.42040074C=CA1702691097GLI3c.992G= (p.Ser331=)
c.815G= (p.Ser272=)
n.969G=
c.989G= (p.Ser330=)
7g.42040074C>GCA367329318GLI3c.992G>C (p.Ser331Thr)
c.815G>C (p.Ser272Thr)
n.969G>C
c.989G>C (p.Ser330Thr)
7g.42040074C>TCA4231004GLI3c.992G>A (p.Ser331Asn)
c.815G>A (p.Ser272Asn)
n.969G>A
c.989G>A (p.Ser330Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040075T>ACA367329322GLI3c.991A>T (p.Ser331Cys)
c.814A>T (p.Ser272Cys)
n.968A>T
c.988A>T (p.Ser330Cys)
7g.42040075T>CCA4231005GLI3c.991A>G (p.Ser331Gly)
c.814A>G (p.Ser272Gly)
n.968A>G
c.988A>G (p.Ser330Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040075T>GCA367329326GLI3c.991A>C (p.Ser331Arg)
c.814A>C (p.Ser272Arg)
n.968A>C
c.988A>C (p.Ser330Arg)
7g.42040075T=CA1702691102GLI3c.991A= (p.Ser331=)
c.814A= (p.Ser272=)
n.968A=
c.988A= (p.Ser330=)
7g.42040076T>ACA454533240GLI3c.990A>T (p.Ala330=)
c.813A>T (p.Ala271=)
n.967A>T
c.987A>T (p.Ala329=)
7g.42040076T>CCA454533242GLI3c.990A>G (p.Ala330=)
c.813A>G (p.Ala271=)
n.967A>G
c.987A>G (p.Ala329=)
7g.42040076T>GCA454533246GLI3c.990A>C (p.Ala330=)
c.813A>C (p.Ala271=)
n.967A>C
c.987A>C (p.Ala329=)
7g.42040077G>ACA367329328GLI3c.989C>T (p.Ala330Val)
c.812C>T (p.Ala271Val)
n.966C>T
c.986C>T (p.Ala329Val)
7g.42040077G>CCA367329329GLI3c.989C>G (p.Ala330Gly)
c.812C>G (p.Ala271Gly)
n.966C>G
c.986C>G (p.Ala329Gly)
7g.42040077G>TCA367329334GLI3c.989C>A (p.Ala330Glu)
c.812C>A (p.Ala271Glu)
n.966C>A
c.986C>A (p.Ala329Glu)
7g.42040078C>ACA367329337GLI3c.988G>T (p.Ala330Ser)
c.811G>T (p.Ala271Ser)
n.965G>T
c.985G>T (p.Ala329Ser)
7g.42040078C>GCA367329338GLI3c.988G>C (p.Ala330Pro)
c.811G>C (p.Ala271Pro)
n.965G>C
c.985G>C (p.Ala329Pro)
7g.42040078C>TCA367329339GLI3c.988G>A (p.Ala330Thr)
c.811G>A (p.Ala271Thr)
n.965G>A
c.985G>A (p.Ala329Thr)
7g.42040079T>ACA454533266GLI3c.987A>T (p.Ser329=)
c.810A>T (p.Ser270=)
n.964A>T
c.984A>T (p.Ser328=)
7g.42040079T>CCA454533272GLI3c.987A>G (p.Ser329=)
c.810A>G (p.Ser270=)
n.964A>G
c.984A>G (p.Ser328=)
dbSNP gnomAD v2 gnomAD v4
7g.42040079T>GCA454533269GLI3c.987A>C (p.Ser329=)
c.810A>C (p.Ser270=)
n.964A>C
c.984A>C (p.Ser328=)
gnomAD v4
7g.42040079T=CA1702691106GLI3c.987A= (p.Ser329=)
c.810A= (p.Ser270=)
n.964A=
c.984A= (p.Ser328=)
7g.42040080G>ACA367329342GLI3c.986C>T (p.Ser329Leu)
c.809C>T (p.Ser270Leu)
n.963C>T
c.983C>T (p.Ser328Leu)
7g.42040080G>CCA367329340GLI3c.986C>G (p.Ser329Ter)
c.809C>G (p.Ser270Ter)
n.963C>G
c.983C>G (p.Ser328Ter)
7g.42040080G>TCA367329341GLI3c.986C>A (p.Ser329Ter)
c.809C>A (p.Ser270Ter)
n.963C>A
c.983C>A (p.Ser328Ter)
COSMIC
7g.42040081A>CCA367329344GLI3c.985T>G (p.Ser329Ala)
c.808T>G (p.Ser270Ala)
n.962T>G
c.982T>G (p.Ser328Ala)
7g.42040081A>GCA367329346GLI3c.985T>C (p.Ser329Pro)
c.808T>C (p.Ser270Pro)
n.962T>C
c.982T>C (p.Ser328Pro)
7g.42040081A>TCA367329348GLI3c.985T>A (p.Ser329Thr)
c.808T>A (p.Ser270Thr)
n.962T>A
c.982T>A (p.Ser328Thr)
7g.42040082A=CA1702691109GLI3c.984T= (p.Ser328=)
c.807T= (p.Ser269=)
n.961T=
c.981T= (p.Ser327=)
7g.42040082A>CCA454533292GLI3c.984T>G (p.Ser328=)
c.807T>G (p.Ser269=)
n.961T>G
c.981T>G (p.Ser327=)
gnomAD v4
7g.42040082A>GCA454533296GLI3c.984T>C (p.Ser328=)
c.807T>C (p.Ser269=)
n.961T>C
c.981T>C (p.Ser327=)
dbSNP gnomAD v2 gnomAD v4
7g.42040082A>TCA454533299GLI3c.984T>A (p.Ser328=)
c.807T>A (p.Ser269=)
n.961T>A
c.981T>A (p.Ser327=)
7g.42040083G>ACA367329352GLI3c.983C>T (p.Ser328Phe)
c.806C>T (p.Ser269Phe)
n.960C>T
c.980C>T (p.Ser327Phe)
7g.42040083G>CCA367329353GLI3c.983C>G (p.Ser328Cys)
c.806C>G (p.Ser269Cys)
n.960C>G
c.980C>G (p.Ser327Cys)
7g.42040083G>TCA367329356GLI3c.983C>A (p.Ser328Tyr)
c.806C>A (p.Ser269Tyr)
n.960C>A
c.980C>A (p.Ser327Tyr)
7g.42040084A>CCA367329358GLI3c.982T>G (p.Ser328Ala)
c.805T>G (p.Ser269Ala)
n.959T>G
c.979T>G (p.Ser327Ala)
7g.42040084A>GCA367329359GLI3c.982T>C (p.Ser328Pro)
c.805T>C (p.Ser269Pro)
n.959T>C
c.979T>C (p.Ser327Pro)
7g.42040084A>TCA367329360GLI3c.982T>A (p.Ser328Thr)
c.805T>A (p.Ser269Thr)
n.959T>A
c.979T>A (p.Ser327Thr)
7g.42040085G>ACA454533316GLI3c.981C>T (p.Ser327=)
c.804C>T (p.Ser268=)
n.958C>T
c.978C>T (p.Ser326=)
dbSNP
7g.42040085G>CCA367329363GLI3c.981C>G (p.Ser327Arg)
c.804C>G (p.Ser268Arg)
n.958C>G
c.978C>G (p.Ser326Arg)
7g.42040085G=CA1702691112GLI3c.981C= (p.Ser327=)
c.804C= (p.Ser268=)
n.958C=
c.978C= (p.Ser326=)
7g.42040085G>TCA367329375GLI3c.981C>A (p.Ser327Arg)
c.804C>A (p.Ser268Arg)
n.958C>A
c.978C>A (p.Ser326Arg)
7g.42040086C>ACA367329390GLI3c.980G>T (p.Ser327Ile)
c.803G>T (p.Ser268Ile)
n.957G>T
c.977G>T (p.Ser326Ile)
7g.42040086C>GCA367329386GLI3c.980G>C (p.Ser327Thr)
c.803G>C (p.Ser268Thr)
n.957G>C
c.977G>C (p.Ser326Thr)
7g.42040086C>TCA367329383GLI3c.980G>A (p.Ser327Asn)
c.803G>A (p.Ser268Asn)
n.957G>A
c.977G>A (p.Ser326Asn)
7g.42040087T>ACA367329394GLI3c.979A>T (p.Ser327Cys)
c.802A>T (p.Ser268Cys)
n.956A>T
c.976A>T (p.Ser326Cys)
7g.42040087T>CCA367329396GLI3c.979A>G (p.Ser327Gly)
c.802A>G (p.Ser268Gly)
n.956A>G
c.976A>G (p.Ser326Gly)
7g.42040087T>GCA367329398GLI3c.979A>C (p.Ser327Arg)
c.802A>C (p.Ser268Arg)
n.956A>C
c.976A>C (p.Ser326Arg)
7g.42040088G>ACA454533343GLI3c.978C>T (p.Ser326=)
c.801C>T (p.Ser267=)
n.955C>T
c.975C>T (p.Ser325=)
7g.42040088G>CCA367329401GLI3c.978C>G (p.Ser326Arg)
c.801C>G (p.Ser267Arg)
n.955C>G
c.975C>G (p.Ser325Arg)
7g.42040088G>TCA367329405GLI3c.978C>A (p.Ser326Arg)
c.801C>A (p.Ser267Arg)
n.955C>A
c.975C>A (p.Ser325Arg)
7g.42040089C>ACA367329411GLI3c.977G>T (p.Ser326Ile)
c.800G>T (p.Ser267Ile)
n.954G>T
c.974G>T (p.Ser325Ile)
7g.42040089C=CA1702691115GLI3c.977G= (p.Ser326=)
c.800G= (p.Ser267=)
n.954G=
c.974G= (p.Ser325=)
7g.42040089C>GCA367329409GLI3c.977G>C (p.Ser326Thr)
c.800G>C (p.Ser267Thr)
n.954G>C
c.974G>C (p.Ser325Thr)
7g.42040089C>TCA4231006GLI3c.977G>A (p.Ser326Asn)
c.800G>A (p.Ser267Asn)
n.954G>A
c.974G>A (p.Ser325Asn)
dbSNP ExAC gnomAD v4
7g.42040090T>ACA367329414GLI3c.976A>T (p.Ser326Cys)
c.799A>T (p.Ser267Cys)
n.953A>T
c.973A>T (p.Ser325Cys)
7g.42040090T>CCA367329416GLI3c.976A>G (p.Ser326Gly)
c.799A>G (p.Ser267Gly)
n.953A>G
c.973A>G (p.Ser325Gly)
gnomAD v4
7g.42040090T>GCA367329418GLI3c.976A>C (p.Ser326Arg)
c.799A>C (p.Ser267Arg)
n.953A>C
c.973A>C (p.Ser325Arg)
7g.42040091A>CCA454533364GLI3c.975T>G (p.Arg325=)
c.798T>G (p.Arg266=)
n.952T>G
c.972T>G (p.Arg324=)
7g.42040091A>GCA454533366GLI3c.975T>C (p.Arg325=)
c.798T>C (p.Arg266=)
n.952T>C
c.972T>C (p.Arg324=)
7g.42040091A>TCA454533369GLI3c.975T>A (p.Arg325=)
c.798T>A (p.Arg266=)
n.952T>A
c.972T>A (p.Arg324=)
7g.42040092C>ACA367329421GLI3c.974G>T (p.Arg325Leu)
c.797G>T (p.Arg266Leu)
n.951G>T
c.971G>T (p.Arg324Leu)
7g.42040092C=CA1702691120GLI3c.974G= (p.Arg325=)
c.797G= (p.Arg266=)
n.951G=
c.971G= (p.Arg324=)
7g.42040092C>GCA367329423GLI3c.974G>C (p.Arg325Pro)
c.797G>C (p.Arg266Pro)
n.951G>C
c.971G>C (p.Arg324Pro)
gnomAD v4
7g.42040092C>TCA4231007GLI3c.974G>A (p.Arg325His)
c.797G>A (p.Arg266His)
n.951G>A
c.971G>A (p.Arg324His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040093G>ACA156907358GLI3c.973C>T (p.Arg325Cys)
c.796C>T (p.Arg266Cys)
n.950C>T
c.970C>T (p.Arg324Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.42040093G>CCA367329431GLI3c.973C>G (p.Arg325Gly)
c.796C>G (p.Arg266Gly)
n.950C>G
c.970C>G (p.Arg324Gly)
7g.42040093G=CA1702691124GLI3c.973C= (p.Arg325=)
c.796C= (p.Arg266=)
n.950C=
c.970C= (p.Arg324=)
7g.42040093G>TCA367329429GLI3c.973C>A (p.Arg325Ser)
c.796C>A (p.Arg266Ser)
n.950C>A
c.970C>A (p.Arg324Ser)
dbSNP COSMIC
7g.42040094G>ACA454533382GLI3c.972C>T (p.Ser324=)
c.795C>T (p.Ser265=)
n.949C>T
c.969C>T (p.Ser323=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.42040094G>CCA454533379GLI3c.972C>G (p.Ser324=)
c.795C>G (p.Ser265=)
n.949C>G
c.969C>G (p.Ser323=)
7g.42040094G=CA1702691130GLI3c.972C= (p.Ser324=)
c.795C= (p.Ser265=)
n.949C=
c.969C= (p.Ser323=)
7g.42040094G>TCA454533380GLI3c.972C>A (p.Ser324=)
c.795C>A (p.Ser265=)
n.949C>A
c.969C>A (p.Ser323=)
7g.42040095G>ACA367329434GLI3c.971C>T (p.Ser324Phe)
c.794C>T (p.Ser265Phe)
n.948C>T
c.968C>T (p.Ser323Phe)
gnomAD v4 COSMIC
7g.42040095G>CCA367329436GLI3c.971C>G (p.Ser324Cys)
c.794C>G (p.Ser265Cys)
n.948C>G
c.968C>G (p.Ser323Cys)
7g.42040095G>TCA367329438GLI3c.971C>A (p.Ser324Tyr)
c.794C>A (p.Ser265Tyr)
n.948C>A
c.968C>A (p.Ser323Tyr)
7g.42040096A>CCA367329441GLI3c.970T>G (p.Ser324Ala)
c.793T>G (p.Ser265Ala)
n.947T>G
c.967T>G (p.Ser323Ala)
7g.42040096A>GCA367329443GLI3c.970T>C (p.Ser324Pro)
c.793T>C (p.Ser265Pro)
n.947T>C
c.967T>C (p.Ser323Pro)
7g.42040096A>TCA367329445GLI3c.970T>A (p.Ser324Thr)
c.793T>A (p.Ser265Thr)
n.947T>A
c.967T>A (p.Ser323Thr)
7g.42040097A>CCA367329448GLI3c.969T>G (p.Asn323Lys)
c.792T>G (p.Asn264Lys)
n.946T>G
c.966T>G (p.Asn322Lys)
7g.42040097A>GCA454533392GLI3c.969T>C (p.Asn323=)
c.792T>C (p.Asn264=)
n.946T>C
c.966T>C (p.Asn322=)
gnomAD v4
7g.42040097A>TCA367329451GLI3c.969T>A (p.Asn323Lys)
c.792T>A (p.Asn264Lys)
n.946T>A
c.966T>A (p.Asn322Lys)
7g.42040098T>ACA367329454GLI3c.968A>T (p.Asn323Ile)
c.791A>T (p.Asn264Ile)
n.945A>T
c.965A>T (p.Asn322Ile)
7g.42040098T>CCA367329456GLI3c.968A>G (p.Asn323Ser)
c.791A>G (p.Asn264Ser)
n.945A>G
c.965A>G (p.Asn322Ser)
7g.42040098T>GCA367329458GLI3c.968A>C (p.Asn323Thr)
c.791A>C (p.Asn264Thr)
n.945A>C
c.965A>C (p.Asn322Thr)
7g.42040099T>ACA367329464GLI3c.967A>T (p.Asn323Tyr)
c.790A>T (p.Asn264Tyr)
n.944A>T
c.964A>T (p.Asn322Tyr)
7g.42040099T>CCA367329467GLI3c.967A>G (p.Asn323Asp)
c.790A>G (p.Asn264Asp)
n.944A>G
c.964A>G (p.Asn322Asp)
7g.42040099T>GCA367329462GLI3c.967A>C (p.Asn323His)
c.790A>C (p.Asn264His)
n.944A>C
c.964A>C (p.Asn322His)
7g.42040100A>CCA367329472GLI3c.966T>G (p.Asn322Lys)
c.789T>G (p.Asn263Lys)
n.943T>G
c.963T>G (p.Asn321Lys)
7g.42040100A>GCA454533401GLI3c.966T>C (p.Asn322=)
c.789T>C (p.Asn263=)
n.943T>C
c.963T>C (p.Asn321=)
7g.42040100A>TCA367329470GLI3c.966T>A (p.Asn322Lys)
c.789T>A (p.Asn263Lys)
n.943T>A
c.963T>A (p.Asn321Lys)
7g.42040101T>ACA367329475GLI3c.965A>T (p.Asn322Ile)
c.788A>T (p.Asn263Ile)
n.942A>T
c.962A>T (p.Asn321Ile)
7g.42040101T>CCA4231008GLI3c.965A>G (p.Asn322Ser)
c.788A>G (p.Asn263Ser)
n.942A>G
c.962A>G (p.Asn321Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040101T>GCA367329479GLI3c.965A>C (p.Asn322Thr)
c.788A>C (p.Asn263Thr)
n.942A>C
c.962A>C (p.Asn321Thr)
7g.42040101T=CA1702691134GLI3c.965A= (p.Asn322=)
c.788A= (p.Asn263=)
n.942A=
c.962A= (p.Asn321=)
7g.42040102T>ACA367329481GLI3c.964A>T (p.Asn322Tyr)
c.787A>T (p.Asn263Tyr)
n.941A>T
c.961A>T (p.Asn321Tyr)
gnomAD v4
7g.42040102T>CCA367329485GLI3c.964A>G (p.Asn322Asp)
c.787A>G (p.Asn263Asp)
n.941A>G
c.961A>G (p.Asn321Asp)
7g.42040102T>GCA367329488GLI3c.964A>C (p.Asn322His)
c.787A>C (p.Asn263His)
n.941A>C
c.961A>C (p.Asn321His)
dbSNP gnomAD v4
7g.42040102T=CA1702691138GLI3c.964A= (p.Asn322=)
c.787A= (p.Asn263=)
n.941A=
c.961A= (p.Asn321=)
7g.42040103G>ACA4231009GLI3c.963C>T (p.Leu321=)
c.786C>T (p.Leu262=)
n.940C>T
c.960C>T (p.Leu320=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040103G>CCA454533413GLI3c.963C>G (p.Leu321=)
c.786C>G (p.Leu262=)
n.940C>G
c.960C>G (p.Leu320=)
7g.42040103G=CA1702691146GLI3c.963C= (p.Leu321=)
c.786C= (p.Leu262=)
n.940C=
c.960C= (p.Leu320=)
7g.42040103G>TCA454533415GLI3c.963C>A (p.Leu321=)
c.786C>A (p.Leu262=)
n.940C>A
c.960C>A (p.Leu320=)
7g.42040104A>CCA367329493GLI3c.962T>G (p.Leu321Arg)
c.785T>G (p.Leu262Arg)
n.939T>G
c.959T>G (p.Leu320Arg)
7g.42040104A>GCA367329498GLI3c.962T>C (p.Leu321Pro)
c.785T>C (p.Leu262Pro)
n.939T>C
c.959T>C (p.Leu320Pro)
7g.42040104A>TCA367329495GLI3c.962T>A (p.Leu321His)
c.785T>A (p.Leu262His)
n.939T>A
c.959T>A (p.Leu320His)
7g.42040105G>ACA4231010GLI3c.961C>T (p.Leu321Phe)
c.784C>T (p.Leu262Phe)
n.938C>T
c.958C>T (p.Leu320Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040105G>CCA367329502GLI3c.961C>G (p.Leu321Val)
c.784C>G (p.Leu262Val)
n.938C>G
c.958C>G (p.Leu320Val)
gnomAD v4
7g.42040105G=CA1702691156GLI3c.961C= (p.Leu321=)
c.784C= (p.Leu262=)
n.938C=
c.958C= (p.Leu320=)
7g.42040105G>TCA367329503GLI3c.961C>A (p.Leu321Ile)
c.784C>A (p.Leu262Ile)
n.938C>A
c.958C>A (p.Leu320Ile)
7g.42040106A>CCA367329507GLI3c.960T>G (p.Ile320Met)
c.783T>G (p.Ile261Met)
n.937T>G
c.957T>G (p.Ile319Met)
7g.42040106A>GCA454533424GLI3c.960T>C (p.Ile320=)
c.783T>C (p.Ile261=)
n.937T>C
c.957T>C (p.Ile319=)
7g.42040106A>TCA454533427GLI3c.960T>A (p.Ile320=)
c.783T>A (p.Ile261=)
n.937T>A
c.957T>A (p.Ile319=)
7g.42040107A=CA1702691159GLI3c.959T= (p.Ile320=)
c.782T= (p.Ile261=)
n.936T=
c.956T= (p.Ile319=)
7g.42040107A>CCA367329511GLI3c.959T>G (p.Ile320Ser)
c.782T>G (p.Ile261Ser)
n.936T>G
c.956T>G (p.Ile319Ser)
7g.42040107A>GCA367329515GLI3c.959T>C (p.Ile320Thr)
c.782T>C (p.Ile261Thr)
n.936T>C
c.956T>C (p.Ile319Thr)
dbSNP
7g.42040107A>TCA367329513GLI3c.959T>A (p.Ile320Asn)
c.782T>A (p.Ile261Asn)
n.936T>A
c.956T>A (p.Ile319Asn)
7g.42040108T>ACA367329518GLI3c.958A>T (p.Ile320Phe)
c.781A>T (p.Ile261Phe)
n.935A>T
c.955A>T (p.Ile319Phe)
7g.42040108T>CCA367329520GLI3c.958A>G (p.Ile320Val)
c.781A>G (p.Ile261Val)
n.935A>G
c.955A>G (p.Ile319Val)
7g.42040108T>GCA367329523GLI3c.958A>C (p.Ile320Leu)
c.781A>C (p.Ile261Leu)
n.935A>C
c.955A>C (p.Ile319Leu)
7g.42040109C>ACA454533434GLI3c.957G>T (p.Thr319=)
c.780G>T (p.Thr260=)
n.934G>T
c.954G>T (p.Thr318=)
7g.42040109C=CA1702691164GLI3c.957G= (p.Thr319=)
c.780G= (p.Thr260=)
n.934G=
c.954G= (p.Thr318=)
7g.42040109C>GCA454533435GLI3c.957G>C (p.Thr319=)
c.780G>C (p.Thr260=)
n.934G>C
c.954G>C (p.Thr318=)
dbSNP gnomAD v2 gnomAD v4
7g.42040109C>TCA4231011GLI3c.957G>A (p.Thr319=)
c.780G>A (p.Thr260=)
n.934G>A
c.954G>A (p.Thr318=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040110G>ACA4231012GLI3c.956C>T (p.Thr319Met)
c.779C>T (p.Thr260Met)
n.933C>T
c.953C>T (p.Thr318Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040110G>CCA367329525GLI3c.956C>G (p.Thr319Arg)
c.779C>G (p.Thr260Arg)
n.933C>G
c.953C>G (p.Thr318Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.42040110G=CA1702691172GLI3c.956C= (p.Thr319=)
c.779C= (p.Thr260=)
n.933C=
c.953C= (p.Thr318=)
7g.42040110G>TCA367329528GLI3c.956C>A (p.Thr319Lys)
c.779C>A (p.Thr260Lys)
n.933C>A
c.953C>A (p.Thr318Lys)
dbSNP
7g.42040111T>ACA367329530GLI3c.955A>T (p.Thr319Ser)
c.778A>T (p.Thr260Ser)
n.932A>T
c.952A>T (p.Thr318Ser)
7g.42040111T>CCA367329532GLI3c.955A>G (p.Thr319Ala)
c.778A>G (p.Thr260Ala)
n.932A>G
c.952A>G (p.Thr318Ala)
7g.42040111T>GCA367329534GLI3c.955A>C (p.Thr319Pro)
c.778A>C (p.Thr260Pro)
n.932A>C
c.952A>C (p.Thr318Pro)
7g.42040112G>ACA4231013GLI3c.954C>T (p.Val318=)
c.777C>T (p.Val259=)
n.931C>T
c.951C>T (p.Val317=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040112G>CCA454533447GLI3c.954C>G (p.Val318=)
c.777C>G (p.Val259=)
n.931C>G
c.951C>G (p.Val317=)
7g.42040112G=CA1702691179GLI3c.954C= (p.Val318=)
c.777C= (p.Val259=)
n.931C=
c.951C= (p.Val317=)
7g.42040112G>TCA454533449GLI3c.954C>A (p.Val318=)
c.777C>A (p.Val259=)
n.931C>A
c.951C>A (p.Val317=)
7g.42040113A>CCA367329539GLI3c.953T>G (p.Val318Gly)
c.776T>G (p.Val259Gly)
n.930T>G
c.950T>G (p.Val317Gly)
7g.42040113A>GCA367329545GLI3c.953T>C (p.Val318Ala)
c.776T>C (p.Val259Ala)
n.930T>C
c.950T>C (p.Val317Ala)
7g.42040113A>TCA367329542GLI3c.953T>A (p.Val318Asp)
c.776T>A (p.Val259Asp)
n.930T>A
c.950T>A (p.Val317Asp)
7g.42040114C>ACA367329548GLI3c.952G>T (p.Val318Phe)
c.775G>T (p.Val259Phe)
n.929G>T
c.949G>T (p.Val317Phe)
7g.42040114C>GCA367329549GLI3c.952G>C (p.Val318Leu)
c.775G>C (p.Val259Leu)
n.929G>C
c.949G>C (p.Val317Leu)
7g.42040114C>TCA367329551GLI3c.952G>A (p.Val318Ile)
c.775G>A (p.Val259Ile)
n.929G>A
c.949G>A (p.Val317Ile)
7g.42040115C>ACA367329555GLI3c.951G>T (p.Leu317Phe)
c.774G>T (p.Leu258Phe)
n.928G>T
c.948G>T (p.Leu316Phe)
7g.42040115C>GCA367329557GLI3c.951G>C (p.Leu317Phe)
c.774G>C (p.Leu258Phe)
n.928G>C
c.948G>C (p.Leu316Phe)
7g.42040115C>TCA454533458GLI3c.951G>A (p.Leu317=)
c.774G>A (p.Leu258=)
n.928G>A
c.948G>A (p.Leu316=)
7g.42040116A>CCA367329560GLI3c.950T>G (p.Leu317Trp)
c.773T>G (p.Leu258Trp)
n.927T>G
c.947T>G (p.Leu316Trp)
gnomAD v4
7g.42040116A>GCA367329563GLI3c.950T>C (p.Leu317Ser)
c.773T>C (p.Leu258Ser)
n.927T>C
c.947T>C (p.Leu316Ser)
7g.42040116A>TCA367329565GLI3c.950T>A (p.Leu317Ter)
c.773T>A (p.Leu258Ter)
n.927T>A
c.947T>A (p.Leu316Ter)
7g.42040117A>CCA367329568GLI3c.949T>G (p.Leu317Val)
c.772T>G (p.Leu258Val)
n.926T>G
c.946T>G (p.Leu316Val)
7g.42040117A>GCA454533466GLI3c.949T>C (p.Leu317=)
c.772T>C (p.Leu258=)
n.926T>C
c.946T>C (p.Leu316=)
7g.42040117A>TCA367329570GLI3c.949T>A (p.Leu317Met)
c.772T>A (p.Leu258Met)
n.926T>A
c.946T>A (p.Leu316Met)
7g.42040118G>ACA454533470GLI3c.948C>T (p.Ser316=)
c.771C>T (p.Ser257=)
n.925C>T
c.945C>T (p.Ser315=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.42040118G>CCA454533471GLI3c.948C>G (p.Ser316=)
c.771C>G (p.Ser257=)
n.925C>G
c.945C>G (p.Ser315=)
7g.42040118G=CA1702691185GLI3c.948C= (p.Ser316=)
c.771C= (p.Ser257=)
n.925C=
c.945C= (p.Ser315=)
7g.42040118G>TCA454533473GLI3c.948C>A (p.Ser316=)
c.771C>A (p.Ser257=)
n.925C>A
c.945C>A (p.Ser315=)
7g.42040119G>ACA367329573GLI3c.947C>T (p.Ser316Phe)
c.770C>T (p.Ser257Phe)
n.924C>T
c.944C>T (p.Ser315Phe)
7g.42040119G>CCA367329575GLI3c.947C>G (p.Ser316Cys)
c.770C>G (p.Ser257Cys)
n.924C>G
c.944C>G (p.Ser315Cys)
7g.42040119G>TCA367329576GLI3c.947C>A (p.Ser316Tyr)
c.770C>A (p.Ser257Tyr)
n.924C>A
c.944C>A (p.Ser315Tyr)
7g.42040120A>CCA367329578GLI3c.946T>G (p.Ser316Ala)
c.769T>G (p.Ser257Ala)
n.923T>G
c.943T>G (p.Ser315Ala)
7g.42040120A>GCA367329580GLI3c.946T>C (p.Ser316Pro)
c.769T>C (p.Ser257Pro)
n.923T>C
c.943T>C (p.Ser315Pro)
7g.42040120A>TCA367329579GLI3c.946T>A (p.Ser316Thr)
c.769T>A (p.Ser257Thr)
n.923T>A
c.943T>A (p.Ser315Thr)
7g.42040121G>ACA454533482GLI3c.945C>T (p.Asn315=)
c.768C>T (p.Asn256=)
n.922C>T
c.942C>T (p.Asn314=)
dbSNP gnomAD v3 gnomAD v4
7g.42040121G>CCA367329581GLI3c.945C>G (p.Asn315Lys)
c.768C>G (p.Asn256Lys)
n.922C>G
c.942C>G (p.Asn314Lys)
7g.42040121G=CA1702691187GLI3c.945C= (p.Asn315=)
c.768C= (p.Asn256=)
n.922C=
c.942C= (p.Asn314=)
7g.42040121G>TCA4231014GLI3c.945C>A (p.Asn315Lys)
c.768C>A (p.Asn256Lys)
n.922C>A
c.942C>A (p.Asn314Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040122T>ACA367329582GLI3c.944A>T (p.Asn315Ile)
c.767A>T (p.Asn256Ile)
n.921A>T
c.941A>T (p.Asn314Ile)
dbSNP
7g.42040122T>CCA367329583GLI3c.944A>G (p.Asn315Ser)
c.767A>G (p.Asn256Ser)
n.921A>G
c.941A>G (p.Asn314Ser)
gnomAD v4
7g.42040122T>GCA367329584GLI3c.944A>C (p.Asn315Thr)
c.767A>C (p.Asn256Thr)
n.921A>C
c.941A>C (p.Asn314Thr)
7g.42040122T=CA1702691195GLI3c.944A= (p.Asn315=)
c.767A= (p.Asn256=)
n.921A=
c.941A= (p.Asn314=)
7g.42040123T>ACA367329585GLI3c.943A>T (p.Asn315Tyr)
c.766A>T (p.Asn256Tyr)
n.920A>T
c.940A>T (p.Asn314Tyr)
7g.42040123T>CCA367329586GLI3c.943A>G (p.Asn315Asp)
c.766A>G (p.Asn256Asp)
n.920A>G
c.940A>G (p.Asn314Asp)
7g.42040123T>GCA367329587GLI3c.943A>C (p.Asn315His)
c.766A>C (p.Asn256His)
n.920A>C
c.940A>C (p.Asn314His)
7g.42040124G>ACA454533492GLI3c.942C>T (p.Pro314=)
c.765C>T (p.Pro255=)
n.919C>T
c.939C>T (p.Pro313=)
7g.42040124G>CCA454533494GLI3c.942C>G (p.Pro314=)
c.765C>G (p.Pro255=)
n.919C>G
c.939C>G (p.Pro313=)
7g.42040124G>TCA454533496GLI3c.942C>A (p.Pro314=)
c.765C>A (p.Pro255=)
n.919C>A
c.939C>A (p.Pro313=)
7g.42040125G>ACA156907397GLI3c.941C>T (p.Pro314Leu)
c.764C>T (p.Pro255Leu)
n.918C>T
c.938C>T (p.Pro313Leu)
dbSNP gnomAD v4
7g.42040125G>CCA367329588GLI3c.941C>G (p.Pro314Arg)
c.764C>G (p.Pro255Arg)
n.918C>G
c.938C>G (p.Pro313Arg)
7g.42040125G=CA1702691199GLI3c.941C= (p.Pro314=)
c.764C= (p.Pro255=)
n.918C=
c.938C= (p.Pro313=)
7g.42040125G>TCA367329589GLI3c.941C>A (p.Pro314His)
c.764C>A (p.Pro255His)
n.918C>A
c.938C>A (p.Pro313His)
7g.42040126G>ACA367329591GLI3c.940C>T (p.Pro314Ser)
c.763C>T (p.Pro255Ser)
n.917C>T
c.937C>T (p.Pro313Ser)
7g.42040126G>CCA156907414GLI3c.940C>G (p.Pro314Ala)
c.763C>G (p.Pro255Ala)
n.917C>G
c.937C>G (p.Pro313Ala)
dbSNP gnomAD v4
7g.42040126G=CA1702691207GLI3c.940C= (p.Pro314=)
c.763C= (p.Pro255=)
n.917C=
c.937C= (p.Pro313=)
7g.42040126G>TCA367329590GLI3c.940C>A (p.Pro314Thr)
c.763C>A (p.Pro255Thr)
n.917C>A
c.937C>A (p.Pro313Thr)
7g.42040127A>CCA454533505GLI3c.939T>G (p.Ser313=)
c.762T>G (p.Ser254=)
n.916T>G
c.936T>G (p.Ser312=)
7g.42040127A>GCA454533507GLI3c.939T>C (p.Ser313=)
c.762T>C (p.Ser254=)
n.916T>C
c.936T>C (p.Ser312=)
7g.42040127A>TCA454533509GLI3c.939T>A (p.Ser313=)
c.762T>A (p.Ser254=)
n.916T>A
c.936T>A (p.Ser312=)
7g.42040128G>ACA367329594GLI3c.938C>T (p.Ser313Phe)
c.761C>T (p.Ser254Phe)
n.915C>T
c.935C>T (p.Ser312Phe)
7g.42040128G>CCA367329592GLI3c.938C>G (p.Ser313Cys)
c.761C>G (p.Ser254Cys)
n.915C>G
c.935C>G (p.Ser312Cys)
7g.42040128G>TCA367329593GLI3c.938C>A (p.Ser313Tyr)
c.761C>A (p.Ser254Tyr)
n.915C>A
c.935C>A (p.Ser312Tyr)
7g.42040129A>CCA367329595GLI3c.937T>G (p.Ser313Ala)
c.760T>G (p.Ser254Ala)
n.914T>G
c.934T>G (p.Ser312Ala)
7g.42040129A>GCA367329596GLI3c.937T>C (p.Ser313Pro)
c.760T>C (p.Ser254Pro)
n.914T>C
c.934T>C (p.Ser312Pro)
7g.42040129A>TCA367329597GLI3c.937T>A (p.Ser313Thr)
c.760T>A (p.Ser254Thr)
n.914T>A
c.934T>A (p.Ser312Thr)
7g.42040130C>ACA4231016GLI3c.936G>T (p.Thr312=)
c.759G>T (p.Thr253=)
n.913G>T
c.933G>T (p.Thr311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040130C=CA1702691214GLI3c.936G= (p.Thr312=)
c.759G= (p.Thr253=)
n.913G=
c.933G= (p.Thr311=)
7g.42040130C>GCA454533517GLI3c.936G>C (p.Thr312=)
c.759G>C (p.Thr253=)
n.913G>C
c.933G>C (p.Thr311=)
7g.42040130C>TCA4231015GLI3c.936G>A (p.Thr312=)
c.759G>A (p.Thr253=)
n.913G>A
c.933G>A (p.Thr311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040131G>ACA4231017GLI3c.935C>T (p.Thr312Met)
c.758C>T (p.Thr253Met)
n.912C>T
c.932C>T (p.Thr311Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42040131G>CCA367329598GLI3c.935C>G (p.Thr312Arg)
c.758C>G (p.Thr253Arg)
n.912C>G
c.932C>G (p.Thr311Arg)
7g.42040131G=CA1702691225GLI3c.935C= (p.Thr312=)
c.758C= (p.Thr253=)
n.912C=
c.932C= (p.Thr311=)
7g.42040131G>TCA367329599GLI3c.935C>A (p.Thr312Lys)
c.758C>A (p.Thr253Lys)
n.912C>A
c.932C>A (p.Thr311Lys)
7g.42040132T>ACA367329600GLI3c.934A>T (p.Thr312Ser)
c.757A>T (p.Thr253Ser)
n.911A>T
c.931A>T (p.Thr311Ser)
7g.42040132T>CCA367329601GLI3c.934A>G (p.Thr312Ala)
c.757A>G (p.Thr253Ala)
n.911A>G
c.931A>G (p.Thr311Ala)
7g.42040132T>GCA367329602GLI3c.934A>C (p.Thr312Pro)
c.757A>C (p.Thr253Pro)
n.911A>C
c.931A>C (p.Thr311Pro)
7g.42040133C>ACA367329603GLI3c.933G>T (p.Arg311Ser)
c.756G>T (p.Arg252Ser)
n.910G>T
c.930G>T (p.Arg310Ser)
7g.42040133C>GCA367329604GLI3c.933G>C (p.Arg311Ser)
c.756G>C (p.Arg252Ser)
n.910G>C
c.930G>C (p.Arg310Ser)
7g.42040133C>TCA454533530GLI3c.933G>A (p.Arg311=)
c.756G>A (p.Arg252=)
n.910G>A
c.930G>A (p.Arg310=)
7g.42040134C>ACA367329605GLI3c.932G>T (p.Arg311Met)
c.755G>T (p.Arg252Met)
n.909G>T
c.929G>T (p.Arg310Met)
7g.42040134C>GCA367329606GLI3c.932G>C (p.Arg311Thr)
c.755G>C (p.Arg252Thr)
n.909G>C
c.929G>C (p.Arg310Thr)
7g.42040134C>TCA367329607GLI3c.932G>A (p.Arg311Lys)
c.755G>A (p.Arg252Lys)
n.909G>A
c.929G>A (p.Arg310Lys)
7g.42040135T>ACA367329608GLI3c.931A>T (p.Arg311Trp)
c.754A>T (p.Arg252Trp)
n.908A>T
c.928A>T (p.Arg310Trp)
7g.42040135T>CCA367329609GLI3c.931A>G (p.Arg311Gly)
c.754A>G (p.Arg252Gly)
n.908A>G
c.928A>G (p.Arg310Gly)
7g.42040135T>GCA454533537GLI3c.931A>C (p.Arg311=)
c.754A>C (p.Arg252=)
n.908A>C
c.928A>C (p.Arg310=)
7g.42040136delCA2695207669GLI3c.931del (p.Arg311GlyfsTer?)
c.754del (p.Arg252GlyfsTer?)
n.908del
c.928del (p.Arg310GlyfsTer?)
7g.42040136T>ACA454533538GLI3c.930A>T (p.Ile310=)
c.753A>T (p.Ile251=)
n.907A>T
c.927A>T (p.Ile309=)
7g.42040136T>CCA367329610GLI3c.930A>G (p.Ile310Met)
c.753A>G (p.Ile251Met)
n.907A>G
c.927A>G (p.Ile309Met)
7g.42040136T>GCA454533541GLI3c.930A>C (p.Ile310=)
c.753A>C (p.Ile251=)
n.907A>C
c.927A>C (p.Ile309=)
7g.42040137A>CCA367329611GLI3c.929T>G (p.Ile310Arg)
c.752T>G (p.Ile251Arg)
n.906T>G
c.926T>G (p.Ile309Arg)
7g.42040137A>GCA367329612GLI3c.929T>C (p.Ile310Thr)
c.752T>C (p.Ile251Thr)
n.906T>C
c.926T>C (p.Ile309Thr)
7g.42040137A>TCA367329613GLI3c.929T>A (p.Ile310Lys)
c.752T>A (p.Ile251Lys)
n.906T>A
c.926T>A (p.Ile309Lys)
gnomAD v4
7g.42040138T>ACA367329614GLI3c.928A>T (p.Ile310Leu)
c.751A>T (p.Ile251Leu)
n.905A>T
c.925A>T (p.Ile309Leu)
7g.42040138T>CCA367329615GLI3c.928A>G (p.Ile310Val)
c.751A>G (p.Ile251Val)
n.905A>G
c.925A>G (p.Ile309Val)
7g.42040138T>GCA156907423GLI3c.928A>C (p.Ile310Leu)
c.751A>C (p.Ile251Leu)
n.905A>C
c.925A>C (p.Ile309Leu)
dbSNP
7g.42040138T=CA1702691234GLI3c.928A= (p.Ile310=)
c.751A= (p.Ile251=)
n.905A=
c.925A= (p.Ile309=)
7g.42040139C>ACA367329617GLI3c.927G>T (p.Met309Ile)
c.750G>T (p.Met250Ile)
n.904G>T
c.924G>T (p.Met308Ile)
7g.42040139C>GCA367329618GLI3c.927G>C (p.Met309Ile)
c.750G>C (p.Met250Ile)
n.904G>C
c.924G>C (p.Met308Ile)
7g.42040139C>TCA367329616GLI3c.927G>A (p.Met309Ile)
c.750G>A (p.Met250Ile)
n.904G>A
c.924G>A (p.Met308Ile)
7g.42040140A>CCA367329619GLI3c.926T>G (p.Met309Arg)
c.749T>G (p.Met250Arg)
n.903T>G
c.923T>G (p.Met308Arg)
7g.42040140A>GCA367329620GLI3c.926T>C (p.Met309Thr)
c.749T>C (p.Met250Thr)
n.903T>C
c.923T>C (p.Met308Thr)
7g.42040140A>TCA367329621GLI3c.926T>A (p.Met309Lys)
c.749T>A (p.Met250Lys)
n.903T>A
c.923T>A (p.Met308Lys)

Number of alleles fetched