Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.42040198G>A | CA123498 | GLI3 | c.868C>T (p.Arg290Ter) c.691C>T (p.Arg231Ter) n.845C>T c.865C>T (p.Arg289Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.42040198G>C | CA367329742 | GLI3 | c.868C>G (p.Arg290Gly) c.691C>G (p.Arg231Gly) n.845C>G c.865C>G (p.Arg289Gly) | |
7 | g.42040198G= | CA1702691364 | GLI3 | c.868C= (p.Arg290=) c.691C= (p.Arg231=) n.845C= c.865C= (p.Arg289=) | |
7 | g.42040198G>T | CA454533780 | GLI3 | c.868C>A (p.Arg290=) c.691C>A (p.Arg231=) n.845C>A c.865C>A (p.Arg289=) | COSMIC |
7 | g.42040199G>A | CA454533782 | GLI3 | c.867C>T (p.Ser289=) c.690C>T (p.Ser230=) n.844C>T c.864C>T (p.Ser288=) | |
7 | g.42040199G>C | CA367329743 | GLI3 | c.867C>G (p.Ser289Arg) c.690C>G (p.Ser230Arg) n.844C>G c.864C>G (p.Ser288Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.42040199G= | CA1702691367 | GLI3 | c.867C= (p.Ser289=) c.690C= (p.Ser230=) n.844C= c.864C= (p.Ser288=) | |
7 | g.42040199G>T | CA367329744 | GLI3 | c.867C>A (p.Ser289Arg) c.690C>A (p.Ser230Arg) n.844C>A c.864C>A (p.Ser288Arg) | |
7 | g.42040200C>A | CA367329745 | GLI3 | c.866G>T (p.Ser289Ile) c.689G>T (p.Ser230Ile) n.843G>T c.863G>T (p.Ser288Ile) | |
7 | g.42040200C>G | CA367329746 | GLI3 | c.866G>C (p.Ser289Thr) c.689G>C (p.Ser230Thr) n.843G>C c.863G>C (p.Ser288Thr) | |
7 | g.42040200C>T | CA367329747 | GLI3 | c.866G>A (p.Ser289Asn) c.689G>A (p.Ser230Asn) n.843G>A c.863G>A (p.Ser288Asn) | gnomAD v4 |
7 | g.42040201T>A | CA367329748 | GLI3 | c.865A>T (p.Ser289Cys) c.688A>T (p.Ser230Cys) n.842A>T c.862A>T (p.Ser288Cys) | |
7 | g.42040201T>C | CA367329749 | GLI3 | c.865A>G (p.Ser289Gly) c.688A>G (p.Ser230Gly) n.842A>G c.862A>G (p.Ser288Gly) | |
7 | g.42040201T>G | CA367329750 | GLI3 | c.865A>C (p.Ser289Arg) c.688A>C (p.Ser230Arg) n.842A>C c.862A>C (p.Ser288Arg) | |
7 | g.42040202C>A | CA4231031 | GLI3 | c.864G>T (p.Pro288=) c.687G>T (p.Pro229=) n.841G>T c.861G>T (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040202C= | CA1702691381 | GLI3 | c.864G= (p.Pro288=) c.687G= (p.Pro229=) n.841G= c.861G= (p.Pro287=) | |
7 | g.42040202C>G | CA454533794 | GLI3 | c.864G>C (p.Pro288=) c.687G>C (p.Pro229=) n.841G>C c.861G>C (p.Pro287=) | dbSNP |
7 | g.42040202C>T | CA4231030 | GLI3 | c.864G>A (p.Pro288=) c.687G>A (p.Pro229=) n.841G>A c.861G>A (p.Pro287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040203G>A | CA4231032 | GLI3 | c.863C>T (p.Pro288Leu) c.686C>T (p.Pro229Leu) n.840C>T c.860C>T (p.Pro287Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040203G>C | CA367329751 | GLI3 | c.863C>G (p.Pro288Arg) c.686C>G (p.Pro229Arg) n.840C>G c.860C>G (p.Pro287Arg) | gnomAD v4 |
7 | g.42040203G= | CA1702691384 | GLI3 | c.863C= (p.Pro288=) c.686C= (p.Pro229=) n.840C= c.860C= (p.Pro287=) | |
7 | g.42040203G>T | CA367329752 | GLI3 | c.863C>A (p.Pro288Gln) c.686C>A (p.Pro229Gln) n.840C>A c.860C>A (p.Pro287Gln) | |
7 | g.42040204G>A | CA367329753 | GLI3 | c.862C>T (p.Pro288Ser) c.685C>T (p.Pro229Ser) n.839C>T c.859C>T (p.Pro287Ser) | gnomAD v4 |
7 | g.42040204G>C | CA367329754 | GLI3 | c.862C>G (p.Pro288Ala) c.685C>G (p.Pro229Ala) n.839C>G c.859C>G (p.Pro287Ala) | |
7 | g.42040204G>T | CA367329755 | GLI3 | c.862C>A (p.Pro288Thr) c.685C>A (p.Pro229Thr) n.839C>A c.859C>A (p.Pro287Thr) | gnomAD v4 |
7 | g.42040205C>A | CA4231033 | GLI3 | c.861G>T (p.Arg287Ser) c.684G>T (p.Arg228Ser) n.838G>T c.858G>T (p.Arg286Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040205C= | CA1702691394 | GLI3 | c.861G= (p.Arg287=) c.684G= (p.Arg228=) n.838G= c.858G= (p.Arg286=) | |
7 | g.42040205C>G | CA367329756 | GLI3 | c.861G>C (p.Arg287Ser) c.684G>C (p.Arg228Ser) n.838G>C c.858G>C (p.Arg286Ser) | |
7 | g.42040205C>T | CA454533805 | GLI3 | c.861G>A (p.Arg287=) c.684G>A (p.Arg228=) n.838G>A c.858G>A (p.Arg286=) | |
7 | g.42040206C>A | CA367329757 | GLI3 | c.860G>T (p.Arg287Met) c.683G>T (p.Arg228Met) n.837G>T c.857G>T (p.Arg286Met) | |
7 | g.42040206C>G | CA367329758 | GLI3 | c.860G>C (p.Arg287Thr) c.683G>C (p.Arg228Thr) n.837G>C c.857G>C (p.Arg286Thr) | |
7 | g.42040206C>T | CA367329759 | GLI3 | c.860G>A (p.Arg287Lys) c.683G>A (p.Arg228Lys) n.837G>A c.857G>A (p.Arg286Lys) | |
7 | g.42040207T>A | CA367329760 | GLI3 | c.859A>T (p.Arg287Trp) c.682A>T (p.Arg228Trp) n.836A>T c.856A>T (p.Arg286Trp) | gnomAD v4 |
7 | g.42040207T>C | CA367329761 | GLI3 | c.859A>G (p.Arg287Gly) c.682A>G (p.Arg228Gly) n.836A>G c.856A>G (p.Arg286Gly) | |
7 | g.42040207T>G | CA454533816 | GLI3 | c.859A>C (p.Arg287=) c.682A>C (p.Arg228=) n.836A>C c.856A>C (p.Arg286=) | |
7 | g.42040208G>A | CA454533820 | GLI3 | c.858C>T (p.Ala286=) c.681C>T (p.Ala227=) n.835C>T c.855C>T (p.Ala285=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.42040208G>C | CA454533824 | GLI3 | c.858C>G (p.Ala286=) c.681C>G (p.Ala227=) n.835C>G c.855C>G (p.Ala285=) | |
7 | g.42040208G= | CA1702691401 | GLI3 | c.858C= (p.Ala286=) c.681C= (p.Ala227=) n.835C= c.855C= (p.Ala285=) | |
7 | g.42040208G>T | CA454533821 | GLI3 | c.858C>A (p.Ala286=) c.681C>A (p.Ala227=) n.835C>A c.855C>A (p.Ala285=) | |
7 | g.42040209G>A | CA367329762 | GLI3 | c.857C>T (p.Ala286Val) c.680C>T (p.Ala227Val) n.834C>T c.854C>T (p.Ala285Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040209G>C | CA367329764 | GLI3 | c.857C>G (p.Ala286Gly) c.680C>G (p.Ala227Gly) n.834C>G c.854C>G (p.Ala285Gly) | |
7 | g.42040209G= | CA1702691408 | GLI3 | c.857C= (p.Ala286=) c.680C= (p.Ala227=) n.834C= c.854C= (p.Ala285=) | |
7 | g.42040209G>T | CA367329763 | GLI3 | c.857C>A (p.Ala286Asp) c.680C>A (p.Ala227Asp) n.834C>A c.854C>A (p.Ala285Asp) | |
7 | g.42040210C>A | CA367329765 | GLI3 | c.856G>T (p.Ala286Ser) c.679G>T (p.Ala227Ser) n.833G>T c.853G>T (p.Ala285Ser) | |
7 | g.42040210C>G | CA367329766 | GLI3 | c.856G>C (p.Ala286Pro) c.679G>C (p.Ala227Pro) n.833G>C c.853G>C (p.Ala285Pro) | gnomAD v4 |
7 | g.42040210C>T | CA367329767 | GLI3 | c.856G>A (p.Ala286Thr) c.679G>A (p.Ala227Thr) n.833G>A c.853G>A (p.Ala285Thr) | |
7 | g.42040211T>A | CA454533835 | GLI3 | c.855A>T (p.Ser285=) c.678A>T (p.Ser226=) n.832A>T c.852A>T (p.Ser284=) | |
7 | g.42040211T>C | CA454533836 | GLI3 | c.855A>G (p.Ser285=) c.678A>G (p.Ser226=) n.832A>G c.852A>G (p.Ser284=) | |
7 | g.42040211T>G | CA454533839 | GLI3 | c.855A>C (p.Ser285=) c.678A>C (p.Ser226=) n.832A>C c.852A>C (p.Ser284=) | |
7 | g.42040212G>A | CA4231034 | GLI3 | c.854C>T (p.Ser285Leu) c.677C>T (p.Ser226Leu) n.831C>T c.851C>T (p.Ser284Leu) | dbSNP ExAC gnomAD v2 |