UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967789T>A | CA4230656 | GLI3 | c.2238A>T (p.Glu746Asp) c.2064A>T (p.Glu688Asp) n.2215A>T c.2061A>T (p.Glu687Asp) c.2235A>T (p.Glu745Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967789T>C | CA454663470 | GLI3 | c.2238A>G (p.Glu746=) c.2064A>G (p.Glu688=) n.2215A>G c.2061A>G (p.Glu687=) c.2235A>G (p.Glu745=) | |
| 7 | g.41967789T>G | CA367321505 | GLI3 | c.2238A>C (p.Glu746Asp) c.2064A>C (p.Glu688Asp) n.2215A>C c.2061A>C (p.Glu687Asp) c.2235A>C (p.Glu745Asp) | dbSNP |
| 7 | g.41967789T= | CA1702661925 | GLI3 | c.2238A= (p.Glu746=) c.2064A= (p.Glu688=) n.2215A= c.2061A= (p.Glu687=) c.2235A= (p.Glu745=) | |
| 7 | g.41967790T>A | CA367321506 | GLI3 | c.2237A>T (p.Glu746Val) c.2063A>T (p.Glu688Val) n.2214A>T c.2060A>T (p.Glu687Val) c.2234A>T (p.Glu745Val) | dbSNP |
| 7 | g.41967790T>C | CA367321507 | GLI3 | c.2237A>G (p.Glu746Gly) c.2063A>G (p.Glu688Gly) n.2214A>G c.2060A>G (p.Glu687Gly) c.2234A>G (p.Glu745Gly) | |
| 7 | g.41967790T>G | CA367321508 | GLI3 | c.2237A>C (p.Glu746Ala) c.2063A>C (p.Glu688Ala) n.2214A>C c.2060A>C (p.Glu687Ala) c.2234A>C (p.Glu745Ala) | |
| 7 | g.41967791C>A | CA367321509 | GLI3 | c.2236G>T (p.Glu746Ter) c.2062G>T (p.Glu688Ter) n.2213G>T c.2059G>T (p.Glu687Ter) c.2233G>T (p.Glu745Ter) | |
| 7 | g.41967791C>G | CA367321510 | GLI3 | c.2236G>C (p.Glu746Gln) c.2062G>C (p.Glu688Gln) n.2213G>C c.2059G>C (p.Glu687Gln) c.2233G>C (p.Glu745Gln) | dbSNP |
| 7 | g.41967791C>T | CA367321511 | GLI3 | c.2236G>A (p.Glu746Lys) c.2062G>A (p.Glu688Lys) n.2213G>A c.2059G>A (p.Glu687Lys) c.2233G>A (p.Glu745Lys) | |
| 7 | g.41967792A= | CA1702661926 | GLI3 | c.2235T= (p.Asp745=) c.2061T= (p.Asp687=) n.2212T= c.2058T= (p.Asp686=) c.2232T= (p.Asp744=) | |
| 7 | g.41967792A>C | CA367321512 | GLI3 | c.2235T>G (p.Asp745Glu) c.2061T>G (p.Asp687Glu) n.2212T>G c.2058T>G (p.Asp686Glu) c.2232T>G (p.Asp744Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967792A>G | CA454663472 | GLI3 | c.2235T>C (p.Asp745=) c.2061T>C (p.Asp687=) n.2212T>C c.2058T>C (p.Asp686=) c.2232T>C (p.Asp744=) | dbSNP |
| 7 | g.41967792A>T | CA367321513 | GLI3 | c.2235T>A (p.Asp745Glu) c.2061T>A (p.Asp687Glu) n.2212T>A c.2058T>A (p.Asp686Glu) c.2232T>A (p.Asp744Glu) | dbSNP |
| 7 | g.41967793T>A | CA367321515 | GLI3 | c.2234A>T (p.Asp745Val) c.2060A>T (p.Asp687Val) n.2211A>T c.2057A>T (p.Asp686Val) c.2231A>T (p.Asp744Val) | |
| 7 | g.41967793T>C | CA367321516 | GLI3 | c.2234A>G (p.Asp745Gly) c.2060A>G (p.Asp687Gly) n.2211A>G c.2057A>G (p.Asp686Gly) c.2231A>G (p.Asp744Gly) | |
| 7 | g.41967793T>G | CA367321514 | GLI3 | c.2234A>C (p.Asp745Ala) c.2060A>C (p.Asp687Ala) n.2211A>C c.2057A>C (p.Asp686Ala) c.2231A>C (p.Asp744Ala) | |
| 7 | g.41967794C>A | CA367321518 | GLI3 | c.2233G>T (p.Asp745Tyr) c.2059G>T (p.Asp687Tyr) n.2210G>T c.2056G>T (p.Asp686Tyr) c.2230G>T (p.Asp744Tyr) | dbSNP |
| 7 | g.41967794C= | CA1702661927 | GLI3 | c.2233G= (p.Asp745=) c.2059G= (p.Asp687=) n.2210G= c.2056G= (p.Asp686=) c.2230G= (p.Asp744=) | |
| 7 | g.41967794C>G | CA367321517 | GLI3 | c.2233G>C (p.Asp745His) c.2059G>C (p.Asp687His) n.2210G>C c.2056G>C (p.Asp686His) c.2230G>C (p.Asp744His) | dbSNP gnomAD v4 |
| 7 | g.41967794C>T | CA4230657 | GLI3 | c.2233G>A (p.Asp745Asn) c.2059G>A (p.Asp687Asn) n.2210G>A c.2056G>A (p.Asp686Asn) c.2230G>A (p.Asp744Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967795G>A | CA4230659 | GLI3 | c.2232C>T (p.Ile744=) c.2058C>T (p.Ile686=) n.2209C>T c.2055C>T (p.Ile685=) c.2229C>T (p.Ile743=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41967795G>C | CA367321519 | GLI3 | c.2232C>G (p.Ile744Met) c.2058C>G (p.Ile686Met) n.2209C>G c.2055C>G (p.Ile685Met) c.2229C>G (p.Ile743Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967795G= | CA1702661928 | GLI3 | c.2232C= (p.Ile744=) c.2058C= (p.Ile686=) n.2209C= c.2055C= (p.Ile685=) c.2229C= (p.Ile743=) | |
| 7 | g.41967795G>T | CA4230658 | GLI3 | c.2232C>A (p.Ile744=) c.2058C>A (p.Ile686=) n.2209C>A c.2055C>A (p.Ile685=) c.2229C>A (p.Ile743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967796A>C | CA367321520 | GLI3 | c.2231T>G (p.Ile744Ser) c.2057T>G (p.Ile686Ser) n.2208T>G c.2054T>G (p.Ile685Ser) c.2228T>G (p.Ile743Ser) | |
| 7 | g.41967796A>G | CA367321521 | GLI3 | c.2231T>C (p.Ile744Thr) c.2057T>C (p.Ile686Thr) n.2208T>C c.2054T>C (p.Ile685Thr) c.2228T>C (p.Ile743Thr) | dbSNP |
| 7 | g.41967796A>T | CA367321522 | GLI3 | c.2231T>A (p.Ile744Asn) c.2057T>A (p.Ile686Asn) n.2208T>A c.2054T>A (p.Ile685Asn) c.2228T>A (p.Ile743Asn) | dbSNP |
| 7 | g.41967797T>A | CA367321523 | GLI3 | c.2230A>T (p.Ile744Phe) c.2056A>T (p.Ile686Phe) n.2207A>T c.2053A>T (p.Ile685Phe) c.2227A>T (p.Ile743Phe) | |
| 7 | g.41967797T>C | CA367321524 | GLI3 | c.2230A>G (p.Ile744Val) c.2056A>G (p.Ile686Val) n.2207A>G c.2053A>G (p.Ile685Val) c.2227A>G (p.Ile743Val) | gnomAD v4 |
| 7 | g.41967797T>G | CA367321525 | GLI3 | c.2230A>C (p.Ile744Leu) c.2056A>C (p.Ile686Leu) n.2207A>C c.2053A>C (p.Ile685Leu) c.2227A>C (p.Ile743Leu) | |
| 7 | g.41967798G>A | CA454663474 | GLI3 | c.2229C>T (p.Ala743=) c.2055C>T (p.Ala685=) n.2206C>T c.2052C>T (p.Ala684=) c.2226C>T (p.Ala742=) | dbSNP |
| 7 | g.41967798G>C | CA454663475 | GLI3 | c.2229C>G (p.Ala743=) c.2055C>G (p.Ala685=) n.2206C>G c.2052C>G (p.Ala684=) c.2226C>G (p.Ala742=) | dbSNP |
| 7 | g.41967798G>T | CA454663477 | GLI3 | c.2229C>A (p.Ala743=) c.2055C>A (p.Ala685=) n.2206C>A c.2052C>A (p.Ala684=) c.2226C>A (p.Ala742=) | gnomAD v4 |
| 7 | g.41967799del | CA2714408342 | GLI3 | c.2229del (p.Ile744SerfsTer?) c.2055del (p.Ile686SerfsTer?) n.2206del c.2052del (p.Ile685SerfsTer?) c.2226del (p.Ile743SerfsTer?) | dbSNP |
| 7 | g.41967799G>A | CA4230660 | GLI3 | c.2228C>T (p.Ala743Val) c.2054C>T (p.Ala685Val) n.2205C>T c.2051C>T (p.Ala684Val) c.2225C>T (p.Ala742Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967799G>C | CA367321526 | GLI3 | c.2228C>G (p.Ala743Gly) c.2054C>G (p.Ala685Gly) n.2205C>G c.2051C>G (p.Ala684Gly) c.2225C>G (p.Ala742Gly) | dbSNP |
| 7 | g.41967799G= | CA1702661929 | GLI3 | c.2228C= (p.Ala743=) c.2054C= (p.Ala685=) n.2205C= c.2051C= (p.Ala684=) c.2225C= (p.Ala742=) | |
| 7 | g.41967799G>T | CA367321527 | GLI3 | c.2228C>A (p.Ala743Asp) c.2054C>A (p.Ala685Asp) n.2205C>A c.2051C>A (p.Ala684Asp) c.2225C>A (p.Ala742Asp) | dbSNP |
| 7 | g.41967800C>A | CA367321529 | GLI3 | c.2227G>T (p.Ala743Ser) c.2053G>T (p.Ala685Ser) n.2204G>T c.2050G>T (p.Ala684Ser) c.2224G>T (p.Ala742Ser) | |
| 7 | g.41967800C>G | CA367321530 | GLI3 | c.2227G>C (p.Ala743Pro) c.2053G>C (p.Ala685Pro) n.2204G>C c.2050G>C (p.Ala684Pro) c.2224G>C (p.Ala742Pro) | dbSNP |
| 7 | g.41967800C>T | CA367321528 | GLI3 | c.2227G>A (p.Ala743Thr) c.2053G>A (p.Ala685Thr) n.2204G>A c.2050G>A (p.Ala684Thr) c.2224G>A (p.Ala742Thr) | dbSNP |
| 7 | g.41967801A>C | CA367321531 | GLI3 | c.2226T>G (p.Ser742Arg) c.2052T>G (p.Ser684Arg) n.2203T>G c.2049T>G (p.Ser683Arg) c.2223T>G (p.Ser741Arg) | |
| 7 | g.41967801A>G | CA454663480 | GLI3 | c.2226T>C (p.Ser742=) c.2052T>C (p.Ser684=) n.2203T>C c.2049T>C (p.Ser683=) c.2223T>C (p.Ser741=) | |
| 7 | g.41967801A>T | CA367321532 | GLI3 | c.2226T>A (p.Ser742Arg) c.2052T>A (p.Ser684Arg) n.2203T>A c.2049T>A (p.Ser683Arg) c.2223T>A (p.Ser741Arg) | dbSNP |
| 7 | g.41967802C>A | CA367321533 | GLI3 | c.2225G>T (p.Ser742Ile) c.2051G>T (p.Ser684Ile) n.2202G>T c.2048G>T (p.Ser683Ile) c.2222G>T (p.Ser741Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967802C= | CA1702661930 | GLI3 | c.2225G= (p.Ser742=) c.2051G= (p.Ser684=) n.2202G= c.2048G= (p.Ser683=) c.2222G= (p.Ser741=) | |
| 7 | g.41967802C>G | CA4230661 | GLI3 | c.2225G>C (p.Ser742Thr) c.2051G>C (p.Ser684Thr) n.2202G>C c.2048G>C (p.Ser683Thr) c.2222G>C (p.Ser741Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967802C>T | CA367321534 | GLI3 | c.2225G>A (p.Ser742Asn) c.2051G>A (p.Ser684Asn) n.2202G>A c.2048G>A (p.Ser683Asn) c.2222G>A (p.Ser741Asn) | dbSNP |
| 7 | g.41967803T>A | CA367321537 | GLI3 | c.2224A>T (p.Ser742Cys) c.2050A>T (p.Ser684Cys) n.2201A>T c.2047A>T (p.Ser683Cys) c.2221A>T (p.Ser741Cys) | dbSNP |
| 7 | g.41967803T>C | CA367321535 | GLI3 | c.2224A>G (p.Ser742Gly) c.2050A>G (p.Ser684Gly) n.2201A>G c.2047A>G (p.Ser683Gly) c.2221A>G (p.Ser741Gly) | ClinVar gnomAD v4 |
| 7 | g.41967803T>G | CA367321536 | GLI3 | c.2224A>C (p.Ser742Arg) c.2050A>C (p.Ser684Arg) n.2201A>C c.2047A>C (p.Ser683Arg) c.2221A>C (p.Ser741Arg) | |
| 7 | g.41967804G>A | CA454663482 | GLI3 | c.2223C>T (p.Leu741=) c.2049C>T (p.Leu683=) n.2200C>T c.2046C>T (p.Leu682=) c.2220C>T (p.Leu740=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967804G>C | CA454663483 | GLI3 | c.2223C>G (p.Leu741=) c.2049C>G (p.Leu683=) n.2200C>G c.2046C>G (p.Leu682=) c.2220C>G (p.Leu740=) | dbSNP |
| 7 | g.41967804G= | CA1702661931 | GLI3 | c.2223C= (p.Leu741=) c.2049C= (p.Leu683=) n.2200C= c.2046C= (p.Leu682=) c.2220C= (p.Leu740=) | |
| 7 | g.41967804G>T | CA454663484 | GLI3 | c.2223C>A (p.Leu741=) c.2049C>A (p.Leu683=) n.2200C>A c.2046C>A (p.Leu682=) c.2220C>A (p.Leu740=) | |
| 7 | g.41967805A>C | CA367321538 | GLI3 | c.2222T>G (p.Leu741Arg) c.2048T>G (p.Leu683Arg) n.2199T>G c.2045T>G (p.Leu682Arg) c.2219T>G (p.Leu740Arg) | |
| 7 | g.41967805A>G | CA367321539 | GLI3 | c.2222T>C (p.Leu741Pro) c.2048T>C (p.Leu683Pro) n.2199T>C c.2045T>C (p.Leu682Pro) c.2219T>C (p.Leu740Pro) | dbSNP |
| 7 | g.41967805A>T | CA367321540 | GLI3 | c.2222T>A (p.Leu741His) c.2048T>A (p.Leu683His) n.2199T>A c.2045T>A (p.Leu682His) c.2219T>A (p.Leu740His) | dbSNP |
| 7 | g.41967806G>A | CA367321541 | GLI3 | c.2221C>T (p.Leu741Phe) c.2047C>T (p.Leu683Phe) n.2198C>T c.2044C>T (p.Leu682Phe) c.2218C>T (p.Leu740Phe) | dbSNP |
| 7 | g.41967806G>C | CA367321542 | GLI3 | c.2221C>G (p.Leu741Val) c.2047C>G (p.Leu683Val) n.2198C>G c.2044C>G (p.Leu682Val) c.2218C>G (p.Leu740Val) | |
| 7 | g.41967806G>T | CA367321543 | GLI3 | c.2221C>A (p.Leu741Ile) c.2047C>A (p.Leu683Ile) n.2198C>A c.2044C>A (p.Leu682Ile) c.2218C>A (p.Leu740Ile) | |
| 7 | g.41967807G>A | CA454663486 | GLI3 | c.2220C>T (p.Asp740=) c.2046C>T (p.Asp682=) n.2197C>T c.2043C>T (p.Asp681=) c.2217C>T (p.Asp739=) | dbSNP |
| 7 | g.41967807G>C | CA367321544 | GLI3 | c.2220C>G (p.Asp740Glu) c.2046C>G (p.Asp682Glu) n.2197C>G c.2043C>G (p.Asp681Glu) c.2217C>G (p.Asp739Glu) | dbSNP |
| 7 | g.41967807G= | CA1702661932 | GLI3 | c.2220C= (p.Asp740=) c.2046C= (p.Asp682=) n.2197C= c.2043C= (p.Asp681=) c.2217C= (p.Asp739=) | |
| 7 | g.41967807G>T | CA367321545 | GLI3 | c.2220C>A (p.Asp740Glu) c.2046C>A (p.Asp682Glu) n.2197C>A c.2043C>A (p.Asp681Glu) c.2217C>A (p.Asp739Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967808T>A | CA367321546 | GLI3 | c.2219A>T (p.Asp740Val) c.2045A>T (p.Asp682Val) n.2196A>T c.2042A>T (p.Asp681Val) c.2216A>T (p.Asp739Val) | dbSNP |
| 7 | g.41967808T>C | CA367321547 | GLI3 | c.2219A>G (p.Asp740Gly) c.2045A>G (p.Asp682Gly) n.2196A>G c.2042A>G (p.Asp681Gly) c.2216A>G (p.Asp739Gly) | dbSNP |
| 7 | g.41967808T>G | CA367321548 | GLI3 | c.2219A>C (p.Asp740Ala) c.2045A>C (p.Asp682Ala) n.2196A>C c.2042A>C (p.Asp681Ala) c.2216A>C (p.Asp739Ala) | |
| 7 | g.41967809C>A | CA367321549 | GLI3 | c.2218G>T (p.Asp740Tyr) c.2044G>T (p.Asp682Tyr) n.2195G>T c.2041G>T (p.Asp681Tyr) c.2215G>T (p.Asp739Tyr) | dbSNP |
| 7 | g.41967809C>G | CA367321550 | GLI3 | c.2218G>C (p.Asp740His) c.2044G>C (p.Asp682His) n.2195G>C c.2041G>C (p.Asp681His) c.2215G>C (p.Asp739His) | dbSNP |
| 7 | g.41967809C>T | CA367321551 | GLI3 | c.2218G>A (p.Asp740Asn) c.2044G>A (p.Asp682Asn) n.2195G>A c.2041G>A (p.Asp681Asn) c.2215G>A (p.Asp739Asn) | dbSNP |
| 7 | g.41967810T>A | CA454663491 | GLI3 | c.2217A>T (p.Gly739=) c.2043A>T (p.Gly681=) n.2194A>T c.2040A>T (p.Gly680=) c.2214A>T (p.Gly738=) | dbSNP |
| 7 | g.41967810T>C | CA454663490 | GLI3 | c.2217A>G (p.Gly739=) c.2043A>G (p.Gly681=) n.2194A>G c.2040A>G (p.Gly680=) c.2214A>G (p.Gly738=) | |
| 7 | g.41967810T>G | CA454663489 | GLI3 | c.2217A>C (p.Gly739=) c.2043A>C (p.Gly681=) n.2194A>C c.2040A>C (p.Gly680=) c.2214A>C (p.Gly738=) | |
| 7 | g.41967811C>A | CA367321552 | GLI3 | c.2216G>T (p.Gly739Val) c.2042G>T (p.Gly681Val) n.2193G>T c.2039G>T (p.Gly680Val) c.2213G>T (p.Gly738Val) | |
| 7 | g.41967811C>G | CA367321553 | GLI3 | c.2216G>C (p.Gly739Ala) c.2042G>C (p.Gly681Ala) n.2193G>C c.2039G>C (p.Gly680Ala) c.2213G>C (p.Gly738Ala) | |
| 7 | g.41967811C>T | CA367321554 | GLI3 | c.2216G>A (p.Gly739Glu) c.2042G>A (p.Gly681Glu) n.2193G>A c.2039G>A (p.Gly680Glu) c.2213G>A (p.Gly738Glu) | |
| 7 | g.41967812C>A | CA367321555 | GLI3 | c.2215G>T (p.Gly739Ter) c.2041G>T (p.Gly681Ter) n.2192G>T c.2038G>T (p.Gly680Ter) c.2212G>T (p.Gly738Ter) | dbSNP |
| 7 | g.41967812C>G | CA367321556 | GLI3 | c.2215G>C (p.Gly739Arg) c.2041G>C (p.Gly681Arg) n.2192G>C c.2038G>C (p.Gly680Arg) c.2212G>C (p.Gly738Arg) | dbSNP |
| 7 | g.41967812C>T | CA367321557 | GLI3 | c.2215G>A (p.Gly739Arg) c.2041G>A (p.Gly681Arg) n.2192G>A c.2038G>A (p.Gly680Arg) c.2212G>A (p.Gly738Arg) | dbSNP |
| 7 | g.41967813T>A | CA454663497 | GLI3 | c.2214A>T (p.Ile738=) c.2040A>T (p.Ile680=) n.2191A>T c.2037A>T (p.Ile679=) c.2211A>T (p.Ile737=) | |
| 7 | g.41967813T>C | CA367321558 | GLI3 | c.2214A>G (p.Ile738Met) c.2040A>G (p.Ile680Met) n.2191A>G c.2037A>G (p.Ile679Met) c.2211A>G (p.Ile737Met) | |
| 7 | g.41967813T>G | CA454663494 | GLI3 | c.2214A>C (p.Ile738=) c.2040A>C (p.Ile680=) n.2191A>C c.2037A>C (p.Ile679=) c.2211A>C (p.Ile737=) | |
| 7 | g.41967814A= | CA1702661933 | GLI3 | c.2213T= (p.Ile738=) c.2039T= (p.Ile680=) n.2190T= c.2036T= (p.Ile679=) c.2210T= (p.Ile737=) | |
| 7 | g.41967814A>C | CA367321561 | GLI3 | c.2213T>G (p.Ile738Arg) c.2039T>G (p.Ile680Arg) n.2190T>G c.2036T>G (p.Ile679Arg) c.2210T>G (p.Ile737Arg) | |
| 7 | g.41967814A>G | CA367321559 | GLI3 | c.2213T>C (p.Ile738Thr) c.2039T>C (p.Ile680Thr) n.2190T>C c.2036T>C (p.Ile679Thr) c.2210T>C (p.Ile737Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967814A>T | CA367321560 | GLI3 | c.2213T>A (p.Ile738Lys) c.2039T>A (p.Ile680Lys) n.2190T>A c.2036T>A (p.Ile679Lys) c.2210T>A (p.Ile737Lys) | |
| 7 | g.41967815T>A | CA367321562 | GLI3 | c.2212A>T (p.Ile738Leu) c.2038A>T (p.Ile680Leu) n.2189A>T c.2035A>T (p.Ile679Leu) c.2209A>T (p.Ile737Leu) | dbSNP |
| 7 | g.41967815T>C | CA367321563 | GLI3 | c.2212A>G (p.Ile738Val) c.2038A>G (p.Ile680Val) n.2189A>G c.2035A>G (p.Ile679Val) c.2209A>G (p.Ile737Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41967815T>G | CA367321564 | GLI3 | c.2212A>C (p.Ile738Leu) c.2038A>C (p.Ile680Leu) n.2189A>C c.2035A>C (p.Ile679Leu) c.2209A>C (p.Ile737Leu) | |
| 7 | g.41967815T= | CA1702661934 | GLI3 | c.2212A= (p.Ile738=) c.2038A= (p.Ile680=) n.2189A= c.2035A= (p.Ile679=) c.2209A= (p.Ile737=) | |
| 7 | g.41967816del | CA2695207643 | GLI3 | c.2211del (p.Ser737ArgfsTer2) c.2037del (p.Ser679ArgfsTer2) n.2188del c.2034del (p.Ser678ArgfsTer2) c.2208del (p.Ser736ArgfsTer2) | |
| 7 | g.41967816A>C | CA367321565 | GLI3 | c.2211T>G (p.Ser737Arg) c.2037T>G (p.Ser679Arg) n.2188T>G c.2034T>G (p.Ser678Arg) c.2208T>G (p.Ser736Arg) | dbSNP |
| 7 | g.41967816A>G | CA454663501 | GLI3 | c.2211T>C (p.Ser737=) c.2037T>C (p.Ser679=) n.2188T>C c.2034T>C (p.Ser678=) c.2208T>C (p.Ser736=) | |
| 7 | g.41967816A>T | CA367321566 | GLI3 | c.2211T>A (p.Ser737Arg) c.2037T>A (p.Ser679Arg) n.2188T>A c.2034T>A (p.Ser678Arg) c.2208T>A (p.Ser736Arg) | |
| 7 | g.41967817C>A | CA367321567 | GLI3 | c.2210G>T (p.Ser737Ile) c.2036G>T (p.Ser679Ile) n.2187G>T c.2033G>T (p.Ser678Ile) c.2207G>T (p.Ser736Ile) | dbSNP |
| 7 | g.41967817C= | CA1702661935 | GLI3 | c.2210G= (p.Ser737=) c.2036G= (p.Ser679=) n.2187G= c.2033G= (p.Ser678=) c.2207G= (p.Ser736=) | |
| 7 | g.41967817C>G | CA367321568 | GLI3 | c.2210G>C (p.Ser737Thr) c.2036G>C (p.Ser679Thr) n.2187G>C c.2033G>C (p.Ser678Thr) c.2207G>C (p.Ser736Thr) | dbSNP |
| 7 | g.41967817C>T | CA156909352 | GLI3 | c.2210G>A (p.Ser737Asn) c.2036G>A (p.Ser679Asn) n.2187G>A c.2033G>A (p.Ser678Asn) c.2207G>A (p.Ser736Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967818T>A | CA367321569 | GLI3 | c.2209A>T (p.Ser737Cys) c.2035A>T (p.Ser679Cys) n.2186A>T c.2032A>T (p.Ser678Cys) c.2206A>T (p.Ser736Cys) | |
| 7 | g.41967818T>C | CA367321570 | GLI3 | c.2209A>G (p.Ser737Gly) c.2035A>G (p.Ser679Gly) n.2186A>G c.2032A>G (p.Ser678Gly) c.2206A>G (p.Ser736Gly) | |
| 7 | g.41967818T>G | CA367321571 | GLI3 | c.2209A>C (p.Ser737Arg) c.2035A>C (p.Ser679Arg) n.2186A>C c.2032A>C (p.Ser678Arg) c.2206A>C (p.Ser736Arg) | |
| 7 | g.41967819A= | CA1702661936 | GLI3 | c.2208T= (p.Gly736=) c.2034T= (p.Gly678=) n.2185T= c.2031T= (p.Gly677=) c.2205T= (p.Gly735=) | |
| 7 | g.41967819A>C | CA454663504 | GLI3 | c.2208T>G (p.Gly736=) c.2034T>G (p.Gly678=) n.2185T>G c.2031T>G (p.Gly677=) c.2205T>G (p.Gly735=) | dbSNP |
| 7 | g.41967819A>G | CA4230662 | GLI3 | c.2208T>C (p.Gly736=) c.2034T>C (p.Gly678=) n.2185T>C c.2031T>C (p.Gly677=) c.2205T>C (p.Gly735=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967819A>T | CA454663505 | GLI3 | c.2208T>A (p.Gly736=) c.2034T>A (p.Gly678=) n.2185T>A c.2031T>A (p.Gly677=) c.2205T>A (p.Gly735=) | dbSNP |
| 7 | g.41967820C>A | CA367321572 | GLI3 | c.2207G>T (p.Gly736Val) c.2033G>T (p.Gly678Val) n.2184G>T c.2030G>T (p.Gly677Val) c.2204G>T (p.Gly735Val) | dbSNP |
| 7 | g.41967820C= | CA1702661938 | GLI3 | c.2207G= (p.Gly736=) c.2033G= (p.Gly678=) n.2184G= c.2030G= (p.Gly677=) c.2204G= (p.Gly735=) | |
| 7 | g.41967820C>G | CA367321573 | GLI3 | c.2207G>C (p.Gly736Ala) c.2033G>C (p.Gly678Ala) n.2184G>C c.2030G>C (p.Gly677Ala) c.2204G>C (p.Gly735Ala) | dbSNP |
| 7 | g.41967820C>T | CA156909371 | GLI3 | c.2207G>A (p.Gly736Asp) c.2033G>A (p.Gly678Asp) n.2184G>A c.2030G>A (p.Gly677Asp) c.2204G>A (p.Gly735Asp) | dbSNP gnomAD v4 |
| 7 | g.41967821dup | CA2695207644 | GLI3 | c.2207dup (p.Ser737Ter) c.2033dup (p.Ser679Ter) n.2184dup c.2030dup (p.Ser678Ter) c.2204dup (p.Ser736Ter) | |
| 7 | g.41967820_41967839delinsCCTCCATCGGTCAGAGGAAG | CA1702661937 | GLI3 | c.2188_2207delinsCTTCCTCTGACCGATGGAGG (p.Leu730=) c.2014_2033delinsCTTCCTCTGACCGATGGAGG (p.Leu672=) n.2165_2184delinsCTTCCTCTGACCGATGGAGG c.2011_2030delinsCTTCCTCTGACCGATGGAGG (p.Leu671=) c.2185_2204delinsCTTCCTCTGACCGATGGAGG (p.Leu729=) | |
| 7 | g.41967821_41967840del | CA2695207645 | GLI3 | c.2188_2207del (p.Leu730Ter) c.2014_2033del (p.Leu672Ter) n.2165_2184del c.2011_2030del (p.Leu671Ter) c.2185_2204del (p.Leu729Ter) | |
| 7 | g.41967821C>A | CA367321574 | GLI3 | c.2206G>T (p.Gly736Cys) c.2032G>T (p.Gly678Cys) n.2183G>T c.2029G>T (p.Gly677Cys) c.2203G>T (p.Gly735Cys) | dbSNP |
| 7 | g.41967821C>G | CA367321575 | GLI3 | c.2206G>C (p.Gly736Arg) c.2032G>C (p.Gly678Arg) n.2183G>C c.2029G>C (p.Gly677Arg) c.2203G>C (p.Gly735Arg) | |
| 7 | g.41967821C>T | CA367321576 | GLI3 | c.2206G>A (p.Gly736Ser) c.2032G>A (p.Gly678Ser) n.2183G>A c.2029G>A (p.Gly677Ser) c.2203G>A (p.Gly735Ser) | |
| 7 | g.41967824_41967842del | CA341305 | GLI3 | c.2188_2206del (p.Leu730ValfsTer3) c.2014_2032del (p.Leu672ValfsTer3) n.2165_2183del c.2011_2029del (p.Leu671ValfsTer3) c.2185_2203del (p.Leu729ValfsTer3) | ClinVar dbSNP |
| 7 | g.41967822T>A | CA454663512 | GLI3 | c.2205A>T (p.Gly735=) c.2031A>T (p.Gly677=) n.2182A>T c.2028A>T (p.Gly676=) c.2202A>T (p.Gly734=) | |
| 7 | g.41967822T>C | CA454663510 | GLI3 | c.2205A>G (p.Gly735=) c.2031A>G (p.Gly677=) n.2182A>G c.2028A>G (p.Gly676=) c.2202A>G (p.Gly734=) | |
| 7 | g.41967822T>G | CA454663511 | GLI3 | c.2205A>C (p.Gly735=) c.2031A>C (p.Gly677=) n.2182A>C c.2028A>C (p.Gly676=) c.2202A>C (p.Gly734=) | |
| 7 | g.41967823C>A | CA367321577 | GLI3 | c.2204G>T (p.Gly735Val) c.2030G>T (p.Gly677Val) n.2181G>T c.2027G>T (p.Gly676Val) c.2201G>T (p.Gly734Val) | dbSNP |
| 7 | g.41967823C>G | CA367321578 | GLI3 | c.2204G>C (p.Gly735Ala) c.2030G>C (p.Gly677Ala) n.2181G>C c.2027G>C (p.Gly676Ala) c.2201G>C (p.Gly734Ala) | dbSNP |
| 7 | g.41967823C>T | CA367321579 | GLI3 | c.2204G>A (p.Gly735Glu) c.2030G>A (p.Gly677Glu) n.2181G>A c.2027G>A (p.Gly676Glu) c.2201G>A (p.Gly734Glu) | dbSNP |
| 7 | g.41967824C>A | CA367321580 | GLI3 | c.2203G>T (p.Gly735Ter) c.2029G>T (p.Gly677Ter) n.2180G>T c.2026G>T (p.Gly676Ter) c.2200G>T (p.Gly734Ter) | |
| 7 | g.41967824C>G | CA367321581 | GLI3 | c.2203G>C (p.Gly735Arg) c.2029G>C (p.Gly677Arg) n.2180G>C c.2026G>C (p.Gly676Arg) c.2200G>C (p.Gly734Arg) | |
| 7 | g.41967824C>T | CA367321582 | GLI3 | c.2203G>A (p.Gly735Arg) c.2029G>A (p.Gly677Arg) n.2180G>A c.2026G>A (p.Gly676Arg) c.2200G>A (p.Gly734Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967825A>C | CA367321583 | GLI3 | c.2202T>G (p.Asp734Glu) c.2028T>G (p.Asp676Glu) n.2179T>G c.2025T>G (p.Asp675Glu) c.2199T>G (p.Asp733Glu) | dbSNP |
| 7 | g.41967825A>G | CA454663516 | GLI3 | c.2202T>C (p.Asp734=) c.2028T>C (p.Asp676=) n.2179T>C c.2025T>C (p.Asp675=) c.2199T>C (p.Asp733=) | gnomAD v4 |
| 7 | g.41967825A>T | CA367321584 | GLI3 | c.2202T>A (p.Asp734Glu) c.2028T>A (p.Asp676Glu) n.2179T>A c.2025T>A (p.Asp675Glu) c.2199T>A (p.Asp733Glu) | dbSNP |
| 7 | g.41967826T>A | CA367321585 | GLI3 | c.2201A>T (p.Asp734Val) c.2027A>T (p.Asp676Val) n.2178A>T c.2024A>T (p.Asp675Val) c.2198A>T (p.Asp733Val) | |
| 7 | g.41967826T>C | CA367321586 | GLI3 | c.2201A>G (p.Asp734Gly) c.2027A>G (p.Asp676Gly) n.2178A>G c.2024A>G (p.Asp675Gly) c.2198A>G (p.Asp733Gly) | |
| 7 | g.41967826T>G | CA367321587 | GLI3 | c.2201A>C (p.Asp734Ala) c.2027A>C (p.Asp676Ala) n.2178A>C c.2024A>C (p.Asp675Ala) c.2198A>C (p.Asp733Ala) | |
| 7 | g.41967827C>A | CA367321589 | GLI3 | c.2200G>T (p.Asp734Tyr) c.2026G>T (p.Asp676Tyr) n.2177G>T c.2023G>T (p.Asp675Tyr) c.2197G>T (p.Asp733Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967827C= | CA1702661939 | GLI3 | c.2200G= (p.Asp734=) c.2026G= (p.Asp676=) n.2177G= c.2023G= (p.Asp675=) c.2197G= (p.Asp733=) | |
| 7 | g.41967827C>G | CA367321588 | GLI3 | c.2200G>C (p.Asp734His) c.2026G>C (p.Asp676His) n.2177G>C c.2023G>C (p.Asp675His) c.2197G>C (p.Asp733His) | dbSNP |
| 7 | g.41967827C>T | CA4230663 | GLI3 | c.2200G>A (p.Asp734Asn) c.2026G>A (p.Asp676Asn) n.2177G>A c.2023G>A (p.Asp675Asn) c.2197G>A (p.Asp733Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967828G>A | CA4230664 | GLI3 | c.2199C>T (p.Thr733=) c.2025C>T (p.Thr675=) n.2176C>T c.2022C>T (p.Thr674=) c.2196C>T (p.Thr732=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967828G>C | CA454663519 | GLI3 | c.2199C>G (p.Thr733=) c.2025C>G (p.Thr675=) n.2176C>G c.2022C>G (p.Thr674=) c.2196C>G (p.Thr732=) | dbSNP |
| 7 | g.41967828G= | CA1702661941 | GLI3 | c.2199C= (p.Thr733=) c.2025C= (p.Thr675=) n.2176C= c.2022C= (p.Thr674=) c.2196C= (p.Thr732=) | |
| 7 | g.41967828G>T | CA454663520 | GLI3 | c.2199C>A (p.Thr733=) c.2025C>A (p.Thr675=) n.2176C>A c.2022C>A (p.Thr674=) c.2196C>A (p.Thr732=) | |
| 7 | g.41967828_41967830delinsGGT | CA1702661940 | GLI3 | c.2197_2199delinsACC (p.Thr733=) c.2023_2025delinsACC (p.Thr675=) n.2174_2176delinsACC c.2020_2022delinsACC (p.Thr674=) c.2194_2196delinsACC (p.Thr732=) | |
| 7 | g.41967829G>A | CA367321590 | GLI3 | c.2198C>T (p.Thr733Ile) c.2024C>T (p.Thr675Ile) n.2175C>T c.2021C>T (p.Thr674Ile) c.2195C>T (p.Thr732Ile) | dbSNP |
| 7 | g.41967829G>C | CA367321591 | GLI3 | c.2198C>G (p.Thr733Ser) c.2024C>G (p.Thr675Ser) n.2175C>G c.2021C>G (p.Thr674Ser) c.2195C>G (p.Thr732Ser) | dbSNP |
| 7 | g.41967829G>T | CA367321592 | GLI3 | c.2198C>A (p.Thr733Asn) c.2024C>A (p.Thr675Asn) n.2175C>A c.2021C>A (p.Thr674Asn) c.2195C>A (p.Thr732Asn) | |
| 7 | g.41967829_41967830del | CA342927 | GLI3 | c.2197_2198del (p.Thr733ArgfsTer4) c.2023_2024del (p.Thr675ArgfsTer4) n.2174_2175del c.2020_2021del (p.Thr674ArgfsTer4) c.2194_2195del (p.Thr732ArgfsTer4) | dbSNP |
| 7 | g.41967830T>A | CA367321593 | GLI3 | c.2197A>T (p.Thr733Ser) c.2023A>T (p.Thr675Ser) n.2174A>T c.2020A>T (p.Thr674Ser) c.2194A>T (p.Thr732Ser) | dbSNP |
| 7 | g.41967830T>C | CA367321594 | GLI3 | c.2197A>G (p.Thr733Ala) c.2023A>G (p.Thr675Ala) n.2174A>G c.2020A>G (p.Thr674Ala) c.2194A>G (p.Thr732Ala) | dbSNP |
| 7 | g.41967830T>G | CA367321595 | GLI3 | c.2197A>C (p.Thr733Pro) c.2023A>C (p.Thr675Pro) n.2174A>C c.2020A>C (p.Thr674Pro) c.2194A>C (p.Thr732Pro) | |
| 7 | g.41967831C>A | CA454663528 | GLI3 | c.2196G>T (p.Leu732=) c.2022G>T (p.Leu674=) n.2173G>T c.2019G>T (p.Leu673=) c.2193G>T (p.Leu731=) | dbSNP |
| 7 | g.41967831C= | CA1702661942 | GLI3 | c.2196G= (p.Leu732=) c.2022G= (p.Leu674=) n.2173G= c.2019G= (p.Leu673=) c.2193G= (p.Leu731=) | |
| 7 | g.41967831C>G | CA454663527 | GLI3 | c.2196G>C (p.Leu732=) c.2022G>C (p.Leu674=) n.2173G>C c.2019G>C (p.Leu673=) c.2193G>C (p.Leu731=) | dbSNP |
| 7 | g.41967831C>T | CA454663526 | GLI3 | c.2196G>A (p.Leu732=) c.2022G>A (p.Leu674=) n.2173G>A c.2019G>A (p.Leu673=) c.2193G>A (p.Leu731=) | dbSNP |
| 7 | g.41967832A>C | CA367321596 | GLI3 | c.2195T>G (p.Leu732Arg) c.2021T>G (p.Leu674Arg) n.2172T>G c.2018T>G (p.Leu673Arg) c.2192T>G (p.Leu731Arg) | |
| 7 | g.41967832A>G | CA367321597 | GLI3 | c.2195T>C (p.Leu732Pro) c.2021T>C (p.Leu674Pro) n.2172T>C c.2018T>C (p.Leu673Pro) c.2192T>C (p.Leu731Pro) | dbSNP |
| 7 | g.41967832A>T | CA367321598 | GLI3 | c.2195T>A (p.Leu732Gln) c.2021T>A (p.Leu674Gln) n.2172T>A c.2018T>A (p.Leu673Gln) c.2192T>A (p.Leu731Gln) | |
| 7 | g.41967833G>A | CA454663532 | GLI3 | c.2194C>T (p.Leu732=) c.2020C>T (p.Leu674=) n.2171C>T c.2017C>T (p.Leu673=) c.2191C>T (p.Leu731=) | dbSNP |
| 7 | g.41967833G>C | CA367321599 | GLI3 | c.2194C>G (p.Leu732Val) c.2020C>G (p.Leu674Val) n.2171C>G c.2017C>G (p.Leu673Val) c.2191C>G (p.Leu731Val) | |
| 7 | g.41967833G>T | CA367321600 | GLI3 | c.2194C>A (p.Leu732Met) c.2020C>A (p.Leu674Met) n.2171C>A c.2017C>A (p.Leu673Met) c.2191C>A (p.Leu731Met) | |
| 7 | g.41967834A>C | CA454663534 | GLI3 | c.2193T>G (p.Pro731=) c.2019T>G (p.Pro673=) n.2170T>G c.2016T>G (p.Pro672=) c.2190T>G (p.Pro730=) | |
| 7 | g.41967834A>G | CA454663535 | GLI3 | c.2193T>C (p.Pro731=) c.2019T>C (p.Pro673=) n.2170T>C c.2016T>C (p.Pro672=) c.2190T>C (p.Pro730=) | |
| 7 | g.41967834A>T | CA454663536 | GLI3 | c.2193T>A (p.Pro731=) c.2019T>A (p.Pro673=) n.2170T>A c.2016T>A (p.Pro672=) c.2190T>A (p.Pro730=) | |
| 7 | g.41967835G>A | CA367321601 | GLI3 | c.2192C>T (p.Pro731Leu) c.2018C>T (p.Pro673Leu) n.2169C>T c.2015C>T (p.Pro672Leu) c.2189C>T (p.Pro730Leu) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41967835G>C | CA367321602 | GLI3 | c.2192C>G (p.Pro731Arg) c.2018C>G (p.Pro673Arg) n.2169C>G c.2015C>G (p.Pro672Arg) c.2189C>G (p.Pro730Arg) | |
| 7 | g.41967835G>T | CA367321603 | GLI3 | c.2192C>A (p.Pro731His) c.2018C>A (p.Pro673His) n.2169C>A c.2015C>A (p.Pro672His) c.2189C>A (p.Pro730His) | |
| 7 | g.41967836G>A | CA367321605 | GLI3 | c.2191C>T (p.Pro731Ser) c.2017C>T (p.Pro673Ser) n.2168C>T c.2014C>T (p.Pro672Ser) c.2188C>T (p.Pro730Ser) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41967836G>C | CA156909403 | GLI3 | c.2191C>G (p.Pro731Ala) c.2017C>G (p.Pro673Ala) n.2168C>G c.2014C>G (p.Pro672Ala) c.2188C>G (p.Pro730Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967836G= | CA1702661943 | GLI3 | c.2191C= (p.Pro731=) c.2017C= (p.Pro673=) n.2168C= c.2014C= (p.Pro672=) c.2188C= (p.Pro730=) | |
| 7 | g.41967836G>T | CA4230665 | GLI3 | c.2191C>A (p.Pro731Thr) c.2017C>A (p.Pro673Thr) n.2168C>A c.2014C>A (p.Pro672Thr) c.2188C>A (p.Pro730Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967837A>C | CA454663538 | GLI3 | c.2190T>G (p.Leu730=) c.2016T>G (p.Leu672=) n.2167T>G c.2013T>G (p.Leu671=) c.2187T>G (p.Leu729=) | |
| 7 | g.41967837A>G | CA454663539 | GLI3 | c.2190T>C (p.Leu730=) c.2016T>C (p.Leu672=) n.2167T>C c.2013T>C (p.Leu671=) c.2187T>C (p.Leu729=) | dbSNP |
| 7 | g.41967837A>T | CA454663541 | GLI3 | c.2190T>A (p.Leu730=) c.2016T>A (p.Leu672=) n.2167T>A c.2013T>A (p.Leu671=) c.2187T>A (p.Leu729=) | |
| 7 | g.41967838A= | CA1702661944 | GLI3 | c.2189T= (p.Leu730=) c.2015T= (p.Leu672=) n.2166T= c.2012T= (p.Leu671=) c.2186T= (p.Leu729=) | |
| 7 | g.41967838A>C | CA367321608 | GLI3 | c.2189T>G (p.Leu730Arg) c.2015T>G (p.Leu672Arg) n.2166T>G c.2012T>G (p.Leu671Arg) c.2186T>G (p.Leu729Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.41967838A>G | CA4230666 | GLI3 | c.2189T>C (p.Leu730Pro) c.2015T>C (p.Leu672Pro) n.2166T>C c.2012T>C (p.Leu671Pro) c.2186T>C (p.Leu729Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967838A>T | CA367321607 | GLI3 | c.2189T>A (p.Leu730His) c.2015T>A (p.Leu672His) n.2166T>A c.2012T>A (p.Leu671His) c.2186T>A (p.Leu729His) | |
| 7 | g.41967839G>A | CA367321609 | GLI3 | c.2188C>T (p.Leu730Phe) c.2014C>T (p.Leu672Phe) n.2165C>T c.2011C>T (p.Leu671Phe) c.2185C>T (p.Leu729Phe) | dbSNP |
| 7 | g.41967839G>C | CA367321610 | GLI3 | c.2188C>G (p.Leu730Val) c.2014C>G (p.Leu672Val) n.2165C>G c.2011C>G (p.Leu671Val) c.2185C>G (p.Leu729Val) | |
| 7 | g.41967839G>T | CA367321611 | GLI3 | c.2188C>A (p.Leu730Ile) c.2014C>A (p.Leu672Ile) n.2165C>A c.2011C>A (p.Leu671Ile) c.2185C>A (p.Leu729Ile) | dbSNP |
| 7 | g.41967840C>A | CA367321612 | GLI3 | c.2187G>T (p.Glu729Asp) c.2013G>T (p.Glu671Asp) n.2164G>T c.2010G>T (p.Glu670Asp) c.2184G>T (p.Glu728Asp) | |
| 7 | g.41967840C>G | CA367321613 | GLI3 | c.2187G>C (p.Glu729Asp) c.2013G>C (p.Glu671Asp) n.2164G>C c.2010G>C (p.Glu670Asp) c.2184G>C (p.Glu728Asp) | dbSNP |
| 7 | g.41967840C>T | CA454663543 | GLI3 | c.2187G>A (p.Glu729=) c.2013G>A (p.Glu671=) n.2164G>A c.2010G>A (p.Glu670=) c.2184G>A (p.Glu728=) | dbSNP |
| 7 | g.41967841T>A | CA367321614 | GLI3 | c.2186A>T (p.Glu729Val) c.2012A>T (p.Glu671Val) n.2163A>T c.2009A>T (p.Glu670Val) c.2183A>T (p.Glu728Val) | dbSNP |
| 7 | g.41967841T>C | CA367321616 | GLI3 | c.2186A>G (p.Glu729Gly) c.2012A>G (p.Glu671Gly) n.2163A>G c.2009A>G (p.Glu670Gly) c.2183A>G (p.Glu728Gly) | |
| 7 | g.41967841T>G | CA367321615 | GLI3 | c.2186A>C (p.Glu729Ala) c.2012A>C (p.Glu671Ala) n.2163A>C c.2009A>C (p.Glu670Ala) c.2183A>C (p.Glu728Ala) | |
| 7 | g.41967842C>A | CA367321617 | GLI3 | c.2185G>T (p.Glu729Ter) c.2011G>T (p.Glu671Ter) n.2162G>T c.2008G>T (p.Glu670Ter) c.2182G>T (p.Glu728Ter) | dbSNP |
| 7 | g.41967842C= | CA1702661945 | GLI3 | c.2185G= (p.Glu729=) c.2011G= (p.Glu671=) n.2162G= c.2008G= (p.Glu670=) c.2182G= (p.Glu728=) | |
| 7 | g.41967842C>G | CA367321618 | GLI3 | c.2185G>C (p.Glu729Gln) c.2011G>C (p.Glu671Gln) n.2162G>C c.2008G>C (p.Glu670Gln) c.2182G>C (p.Glu728Gln) | dbSNP |
| 7 | g.41967842C>T | CA4230667 | GLI3 | c.2185G>A (p.Glu729Lys) c.2011G>A (p.Glu671Lys) n.2162G>A c.2008G>A (p.Glu670Lys) c.2182G>A (p.Glu728Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967843G>A | CA4230668 | GLI3 | c.2184C>T (p.Leu728=) c.2010C>T (p.Leu670=) n.2161C>T c.2007C>T (p.Leu669=) c.2181C>T (p.Leu727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967843G>C | CA454663550 | GLI3 | c.2184C>G (p.Leu728=) c.2010C>G (p.Leu670=) n.2161C>G c.2007C>G (p.Leu669=) c.2181C>G (p.Leu727=) | |
| 7 | g.41967843G= | CA1702661946 | GLI3 | c.2184C= (p.Leu728=) c.2010C= (p.Leu670=) n.2161C= c.2007C= (p.Leu669=) c.2181C= (p.Leu727=) | |
| 7 | g.41967843G>T | CA454663549 | GLI3 | c.2184C>A (p.Leu728=) c.2010C>A (p.Leu670=) n.2161C>A c.2007C>A (p.Leu669=) c.2181C>A (p.Leu727=) | |
| 7 | g.41967844A>C | CA367321619 | GLI3 | c.2183T>G (p.Leu728Arg) c.2009T>G (p.Leu670Arg) n.2160T>G c.2006T>G (p.Leu669Arg) c.2180T>G (p.Leu727Arg) | |
| 7 | g.41967844A>G | CA367321620 | GLI3 | c.2183T>C (p.Leu728Pro) c.2009T>C (p.Leu670Pro) n.2160T>C c.2006T>C (p.Leu669Pro) c.2180T>C (p.Leu727Pro) | |
| 7 | g.41967844A>T | CA367321621 | GLI3 | c.2183T>A (p.Leu728His) c.2009T>A (p.Leu670His) n.2160T>A c.2006T>A (p.Leu669His) c.2180T>A (p.Leu727His) | |
| 7 | g.41967845G>A | CA367321622 | GLI3 | c.2182C>T (p.Leu728Phe) c.2008C>T (p.Leu670Phe) n.2159C>T c.2005C>T (p.Leu669Phe) c.2179C>T (p.Leu727Phe) | COSMIC |
| 7 | g.41967845G>C | CA4230669 | GLI3 | c.2182C>G (p.Leu728Val) c.2008C>G (p.Leu670Val) n.2159C>G c.2005C>G (p.Leu669Val) c.2179C>G (p.Leu727Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41967845G= | CA1702661947 | GLI3 | c.2182C= (p.Leu728=) c.2008C= (p.Leu670=) n.2159C= c.2005C= (p.Leu669=) c.2179C= (p.Leu727=) | |
| 7 | g.41967845G>T | CA367321623 | GLI3 | c.2182C>A (p.Leu728Ile) c.2008C>A (p.Leu670Ile) n.2159C>A c.2005C>A (p.Leu669Ile) c.2179C>A (p.Leu727Ile) | gnomAD v4 |
| 7 | g.41967846C>A | CA454663557 | GLI3 | c.2181G>T (p.Gly727=) c.2007G>T (p.Gly669=) n.2158G>T c.2004G>T (p.Gly668=) c.2178G>T (p.Gly726=) | |
| 7 | g.41967846C= | CA1702661948 | GLI3 | c.2181G= (p.Gly727=) c.2007G= (p.Gly669=) n.2158G= c.2004G= (p.Gly668=) c.2178G= (p.Gly726=) | |
| 7 | g.41967846C>G | CA454663558 | GLI3 | c.2181G>C (p.Gly727=) c.2007G>C (p.Gly669=) n.2158G>C c.2004G>C (p.Gly668=) c.2178G>C (p.Gly726=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41967846C>T | CA156909462 | GLI3 | c.2181G>A (p.Gly727=) c.2007G>A (p.Gly669=) n.2158G>A c.2004G>A (p.Gly668=) c.2178G>A (p.Gly726=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41967847C>A | CA367321625 | GLI3 | c.2180G>T (p.Gly727Val) c.2006G>T (p.Gly669Val) n.2157G>T c.2003G>T (p.Gly668Val) c.2177G>T (p.Gly726Val) | dbSNP |
| 7 | g.41967847C>G | CA367321626 | GLI3 | c.2180G>C (p.Gly727Ala) c.2006G>C (p.Gly669Ala) n.2157G>C c.2003G>C (p.Gly668Ala) c.2177G>C (p.Gly726Ala) | |
| 7 | g.41967847C>T | CA367321624 | GLI3 | c.2180G>A (p.Gly727Glu) c.2006G>A (p.Gly669Glu) n.2157G>A c.2003G>A (p.Gly668Glu) c.2177G>A (p.Gly726Glu) | dbSNP gnomAD v4 |
| 7 | g.41967848C>A | CA367321627 | GLI3 | c.2179G>T (p.Gly727Trp) c.2005G>T (p.Gly669Trp) n.2156G>T c.2002G>T (p.Gly668Trp) c.2176G>T (p.Gly726Trp) | |
| 7 | g.41967848C= | CA1702661949 | GLI3 | c.2179G= (p.Gly727=) c.2005G= (p.Gly669=) n.2156G= c.2002G= (p.Gly668=) c.2176G= (p.Gly726=) | |
| 7 | g.41967848C>G | CA367321628 | GLI3 | c.2179G>C (p.Gly727Arg) c.2005G>C (p.Gly669Arg) n.2156G>C c.2002G>C (p.Gly668Arg) c.2176G>C (p.Gly726Arg) | |
| 7 | g.41967848C>T | CA123497 | GLI3 | c.2179G>A (p.Gly727Arg) c.2005G>A (p.Gly669Arg) n.2156G>A c.2002G>A (p.Gly668Arg) c.2176G>A (p.Gly726Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967849A>C | CA367321629 | GLI3 | c.2178T>G (p.Ser726Arg) c.2004T>G (p.Ser668Arg) n.2155T>G c.2001T>G (p.Ser667Arg) c.2175T>G (p.Ser725Arg) | |
| 7 | g.41967849A>G | CA454663562 | GLI3 | c.2178T>C (p.Ser726=) c.2004T>C (p.Ser668=) n.2155T>C c.2001T>C (p.Ser667=) c.2175T>C (p.Ser725=) | |
| 7 | g.41967849A>T | CA367321630 | GLI3 | c.2178T>A (p.Ser726Arg) c.2004T>A (p.Ser668Arg) n.2155T>A c.2001T>A (p.Ser667Arg) c.2175T>A (p.Ser725Arg) | dbSNP |
| 7 | g.41967850C>A | CA367321631 | GLI3 | c.2177G>T (p.Ser726Ile) c.2003G>T (p.Ser668Ile) n.2154G>T c.2000G>T (p.Ser667Ile) c.2174G>T (p.Ser725Ile) | |
| 7 | g.41967850C>G | CA367321632 | GLI3 | c.2177G>C (p.Ser726Thr) c.2003G>C (p.Ser668Thr) n.2154G>C c.2000G>C (p.Ser667Thr) c.2174G>C (p.Ser725Thr) | gnomAD v4 |
| 7 | g.41967850C>T | CA367321633 | GLI3 | c.2177G>A (p.Ser726Asn) c.2003G>A (p.Ser668Asn) n.2154G>A c.2000G>A (p.Ser667Asn) c.2174G>A (p.Ser725Asn) | dbSNP |
| 7 | g.41967851T>A | CA367321634 | GLI3 | c.2176A>T (p.Ser726Cys) c.2002A>T (p.Ser668Cys) n.2153A>T c.1999A>T (p.Ser667Cys) c.2173A>T (p.Ser725Cys) | |
| 7 | g.41967851T>C | CA367321635 | GLI3 | c.2176A>G (p.Ser726Gly) c.2002A>G (p.Ser668Gly) n.2153A>G c.1999A>G (p.Ser667Gly) c.2173A>G (p.Ser725Gly) | |
| 7 | g.41967851T>G | CA367321636 | GLI3 | c.2176A>C (p.Ser726Arg) c.2002A>C (p.Ser668Arg) n.2153A>C c.1999A>C (p.Ser667Arg) c.2173A>C (p.Ser725Arg) | gnomAD v4 |
| 7 | g.41967851_41967852insCCATCTCTCCCATTATTCTCTATAATACA | CA2714410302 | GLI3 | c.2175_2176insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser726CysfsTer17) c.2001_2002insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser668CysfsTer17) n.2152_2153insTGTATTATAGAGAATAATGGGAGAGATGG c.1998_1999insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser667CysfsTer17) c.2172_2173insTGTATTATAGAGAATAATGGGAGAGATGG (p.Ser725CysfsTer17) | dbSNP |
| 7 | g.41967852G>A | CA454663566 | GLI3 | c.2175C>T (p.Asn725=) c.2001C>T (p.Asn667=) n.2152C>T c.1998C>T (p.Asn666=) c.2172C>T (p.Asn724=) | gnomAD v4 |
| 7 | g.41967852G>C | CA367321637 | GLI3 | c.2175C>G (p.Asn725Lys) c.2001C>G (p.Asn667Lys) n.2152C>G c.1998C>G (p.Asn666Lys) c.2172C>G (p.Asn724Lys) | |
| 7 | g.41967852G>T | CA367321638 | GLI3 | c.2175C>A (p.Asn725Lys) c.2001C>A (p.Asn667Lys) n.2152C>A c.1998C>A (p.Asn666Lys) c.2172C>A (p.Asn724Lys) | COSMIC |
| 7 | g.41967853T>A | CA367321640 | GLI3 | c.2174A>T (p.Asn725Ile) c.2000A>T (p.Asn667Ile) n.2151A>T c.1997A>T (p.Asn666Ile) c.2171A>T (p.Asn724Ile) | |
| 7 | g.41967853T>C | CA367321639 | GLI3 | c.2174A>G (p.Asn725Ser) c.2000A>G (p.Asn667Ser) n.2151A>G c.1997A>G (p.Asn666Ser) c.2171A>G (p.Asn724Ser) | gnomAD v4 |
| 7 | g.41967853T>G | CA4230670 | GLI3 | c.2174A>C (p.Asn725Thr) c.2000A>C (p.Asn667Thr) n.2151A>C c.1997A>C (p.Asn666Thr) c.2171A>C (p.Asn724Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967853T= | CA1702661950 | GLI3 | c.2174A= (p.Asn725=) c.2000A= (p.Asn667=) n.2151A= c.1997A= (p.Asn666=) c.2171A= (p.Asn724=) | |
| 7 | g.41967854T>A | CA367321641 | GLI3 | c.2173A>T (p.Asn725Tyr) c.1999A>T (p.Asn667Tyr) n.2150A>T c.1996A>T (p.Asn666Tyr) c.2170A>T (p.Asn724Tyr) | |
| 7 | g.41967854T>C | CA367321642 | GLI3 | c.2173A>G (p.Asn725Asp) c.1999A>G (p.Asn667Asp) n.2150A>G c.1996A>G (p.Asn666Asp) c.2170A>G (p.Asn724Asp) | |
| 7 | g.41967854T>G | CA367321643 | GLI3 | c.2173A>C (p.Asn725His) c.1999A>C (p.Asn667His) n.2150A>C c.1996A>C (p.Asn666His) c.2170A>C (p.Asn724His) | |
| 7 | g.41967854T= | CA1702661951 | GLI3 | c.2173A= (p.Asn725=) c.1999A= (p.Asn667=) n.2150A= c.1996A= (p.Asn666=) c.2170A= (p.Asn724=) | |
| 7 | g.41967855G>A | CA454663571 | GLI3 | c.2172C>T (p.Ser724=) c.1998C>T (p.Ser666=) n.2149C>T c.1995C>T (p.Ser665=) c.2169C>T (p.Ser723=) | dbSNP |
| 7 | g.41967855G>C | CA454663572 | GLI3 | c.2172C>G (p.Ser724=) c.1998C>G (p.Ser666=) n.2149C>G c.1995C>G (p.Ser665=) c.2169C>G (p.Ser723=) | |
| 7 | g.41967855G>T | CA454663573 | GLI3 | c.2172C>A (p.Ser724=) c.1998C>A (p.Ser666=) n.2149C>A c.1995C>A (p.Ser665=) c.2169C>A (p.Ser723=) | |
| 7 | g.41967856dup | CA342926 | GLI3 | c.2172dup (p.Asn725GlnfsTer13) c.1998dup (p.Asn667GlnfsTer13) n.2149dup c.1995dup (p.Asn666GlnfsTer13) c.2169dup (p.Asn724GlnfsTer13) | dbSNP |
| 7 | g.41967856G>A | CA367321644 | GLI3 | c.2171C>T (p.Ser724Phe) c.1997C>T (p.Ser666Phe) n.2148C>T c.1994C>T (p.Ser665Phe) c.2168C>T (p.Ser723Phe) | dbSNP gnomAD v4 |
| 7 | g.41967856G>C | CA367321645 | GLI3 | c.2171C>G (p.Ser724Cys) c.1997C>G (p.Ser666Cys) n.2148C>G c.1994C>G (p.Ser665Cys) c.2168C>G (p.Ser723Cys) | |
| 7 | g.41967856G>T | CA367321646 | GLI3 | c.2171C>A (p.Ser724Tyr) c.1997C>A (p.Ser666Tyr) n.2148C>A c.1994C>A (p.Ser665Tyr) c.2168C>A (p.Ser723Tyr) | gnomAD v4 |
| 7 | g.41967857A>C | CA367321647 | GLI3 | c.2170T>G (p.Ser724Ala) c.1996T>G (p.Ser666Ala) n.2147T>G c.1993T>G (p.Ser665Ala) c.2167T>G (p.Ser723Ala) | |
| 7 | g.41967857A>G | CA367321648 | GLI3 | c.2170T>C (p.Ser724Pro) c.1996T>C (p.Ser666Pro) n.2147T>C c.1993T>C (p.Ser665Pro) c.2167T>C (p.Ser723Pro) | dbSNP |
| 7 | g.41967857A>T | CA367321649 | GLI3 | c.2170T>A (p.Ser724Thr) c.1996T>A (p.Ser666Thr) n.2147T>A c.1993T>A (p.Ser665Thr) c.2167T>A (p.Ser723Thr) | |
| 7 | g.41967858A>C | CA367321650 | GLI3 | c.2169T>G (p.Tyr723Ter) c.1995T>G (p.Tyr665Ter) n.2146T>G c.1992T>G (p.Tyr664Ter) c.2166T>G (p.Tyr722Ter) | |
| 7 | g.41967858A>G | CA454525111 | GLI3 | c.2169T>C (p.Tyr723=) c.1995T>C (p.Tyr665=) n.2146T>C c.1992T>C (p.Tyr664=) c.2166T>C (p.Tyr722=) | gnomAD v4 |
| 7 | g.41967858A>T | CA367321651 | GLI3 | c.2169T>A (p.Tyr723Ter) c.1995T>A (p.Tyr665Ter) n.2146T>A c.1992T>A (p.Tyr664Ter) c.2166T>A (p.Tyr722Ter) | |
| 7 | g.41967859T>A | CA367321652 | GLI3 | c.2168A>T (p.Tyr723Phe) c.1994A>T (p.Tyr665Phe) n.2145A>T c.1991A>T (p.Tyr664Phe) c.2165A>T (p.Tyr722Phe) | dbSNP |
| 7 | g.41967859T>C | CA367321653 | GLI3 | c.2168A>G (p.Tyr723Cys) c.1994A>G (p.Tyr665Cys) n.2145A>G c.1991A>G (p.Tyr664Cys) c.2165A>G (p.Tyr722Cys) | gnomAD v4 |
| 7 | g.41967859T>G | CA367321654 | GLI3 | c.2168A>C (p.Tyr723Ser) c.1994A>C (p.Tyr665Ser) n.2145A>C c.1991A>C (p.Tyr664Ser) c.2165A>C (p.Tyr722Ser) | |
| 7 | g.41967860A>C | CA367321656 | GLI3 | c.2167T>G (p.Tyr723Asp) c.1993T>G (p.Tyr665Asp) n.2144T>G c.1990T>G (p.Tyr664Asp) c.2164T>G (p.Tyr722Asp) | |
| 7 | g.41967860A>G | CA367321657 | GLI3 | c.2167T>C (p.Tyr723His) c.1993T>C (p.Tyr665His) n.2144T>C c.1990T>C (p.Tyr664His) c.2164T>C (p.Tyr722His) | |
| 7 | g.41967860A>T | CA367321655 | GLI3 | c.2167T>A (p.Tyr723Asn) c.1993T>A (p.Tyr665Asn) n.2144T>A c.1990T>A (p.Tyr664Asn) c.2164T>A (p.Tyr722Asn) | |
| 7 | g.41967861G>A | CA454525116 | GLI3 | c.2166C>T (p.Asn722=) c.1992C>T (p.Asn664=) n.2143C>T c.1989C>T (p.Asn663=) c.2163C>T (p.Asn721=) | dbSNP |
| 7 | g.41967861G>C | CA367321658 | GLI3 | c.2166C>G (p.Asn722Lys) c.1992C>G (p.Asn664Lys) n.2143C>G c.1989C>G (p.Asn663Lys) c.2163C>G (p.Asn721Lys) | dbSNP |
| 7 | g.41967861G>T | CA367321659 | GLI3 | c.2166C>A (p.Asn722Lys) c.1992C>A (p.Asn664Lys) n.2143C>A c.1989C>A (p.Asn663Lys) c.2163C>A (p.Asn721Lys) | |
| 7 | g.41967862T>A | CA367321660 | GLI3 | c.2165A>T (p.Asn722Ile) c.1991A>T (p.Asn664Ile) n.2142A>T c.1988A>T (p.Asn663Ile) c.2162A>T (p.Asn721Ile) | dbSNP |
| 7 | g.41967862T>C | CA4230671 | GLI3 | c.2165A>G (p.Asn722Ser) c.1991A>G (p.Asn664Ser) n.2142A>G c.1988A>G (p.Asn663Ser) c.2162A>G (p.Asn721Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967862T>G | CA367321661 | GLI3 | c.2165A>C (p.Asn722Thr) c.1991A>C (p.Asn664Thr) n.2142A>C c.1988A>C (p.Asn663Thr) c.2162A>C (p.Asn721Thr) | |
| 7 | g.41967862T= | CA1702661952 | GLI3 | c.2165A= (p.Asn722=) c.1991A= (p.Asn664=) n.2142A= c.1988A= (p.Asn663=) c.2162A= (p.Asn721=) | |
| 7 | g.41967863T>A | CA367321662 | GLI3 | c.2164A>T (p.Asn722Tyr) c.1990A>T (p.Asn664Tyr) n.2141A>T c.1987A>T (p.Asn663Tyr) c.2161A>T (p.Asn721Tyr) | dbSNP |
| 7 | g.41967863T>C | CA367321663 | GLI3 | c.2164A>G (p.Asn722Asp) c.1990A>G (p.Asn664Asp) n.2141A>G c.1987A>G (p.Asn663Asp) c.2161A>G (p.Asn721Asp) | |
| 7 | g.41967863T>G | CA367321664 | GLI3 | c.2164A>C (p.Asn722His) c.1990A>C (p.Asn664His) n.2141A>C c.1987A>C (p.Asn663His) c.2161A>C (p.Asn721His) | |
| 7 | g.41967864G>A | CA454525124 | GLI3 | c.2163C>T (p.Ser721=) c.1989C>T (p.Ser663=) n.2140C>T c.1986C>T (p.Ser662=) c.2160C>T (p.Ser720=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967864G>C | CA367321665 | GLI3 | c.2163C>G (p.Ser721Arg) c.1989C>G (p.Ser663Arg) n.2140C>G c.1986C>G (p.Ser662Arg) c.2160C>G (p.Ser720Arg) | dbSNP |
| 7 | g.41967864G= | CA1702661953 | GLI3 | c.2163C= (p.Ser721=) c.1989C= (p.Ser663=) n.2140C= c.1986C= (p.Ser662=) c.2160C= (p.Ser720=) | |
| 7 | g.41967864G>T | CA367321666 | GLI3 | c.2163C>A (p.Ser721Arg) c.1989C>A (p.Ser663Arg) n.2140C>A c.1986C>A (p.Ser662Arg) c.2160C>A (p.Ser720Arg) | |
| 7 | g.41967865C>A | CA367321667 | GLI3 | c.2162G>T (p.Ser721Ile) c.1988G>T (p.Ser663Ile) n.2139G>T c.1985G>T (p.Ser662Ile) c.2159G>T (p.Ser720Ile) | |
| 7 | g.41967865C>G | CA367321668 | GLI3 | c.2162G>C (p.Ser721Thr) c.1988G>C (p.Ser663Thr) n.2139G>C c.1985G>C (p.Ser662Thr) c.2159G>C (p.Ser720Thr) | dbSNP |
| 7 | g.41967865C>T | CA367321669 | GLI3 | c.2162G>A (p.Ser721Asn) c.1988G>A (p.Ser663Asn) n.2139G>A c.1985G>A (p.Ser662Asn) c.2159G>A (p.Ser720Asn) | dbSNP |
| 7 | g.41967866T>A | CA367321672 | GLI3 | c.2161A>T (p.Ser721Cys) c.1987A>T (p.Ser663Cys) n.2138A>T c.1984A>T (p.Ser662Cys) c.2158A>T (p.Ser720Cys) | |
| 7 | g.41967866T>C | CA367321670 | GLI3 | c.2161A>G (p.Ser721Gly) c.1987A>G (p.Ser663Gly) n.2138A>G c.1984A>G (p.Ser662Gly) c.2158A>G (p.Ser720Gly) | |
| 7 | g.41967866T>G | CA367321671 | GLI3 | c.2161A>C (p.Ser721Arg) c.1987A>C (p.Ser663Arg) n.2138A>C c.1984A>C (p.Ser662Arg) c.2158A>C (p.Ser720Arg) | |
| 7 | g.41967867G>A | CA454525126 | GLI3 | c.2160C>T (p.Ile720=) c.1986C>T (p.Ile662=) n.2137C>T c.1983C>T (p.Ile661=) c.2157C>T (p.Ile719=) | |
| 7 | g.41967867G>C | CA367321673 | GLI3 | c.2160C>G (p.Ile720Met) c.1986C>G (p.Ile662Met) n.2137C>G c.1983C>G (p.Ile661Met) c.2157C>G (p.Ile719Met) | |
| 7 | g.41967867G= | CA1702661954 | GLI3 | c.2160C= (p.Ile720=) c.1986C= (p.Ile662=) n.2137C= c.1983C= (p.Ile661=) c.2157C= (p.Ile719=) | |
| 7 | g.41967867G>T | CA4230672 | GLI3 | c.2160C>A (p.Ile720=) c.1986C>A (p.Ile662=) n.2137C>A c.1983C>A (p.Ile661=) c.2157C>A (p.Ile719=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967868A= | CA1702661955 | GLI3 | c.2159T= (p.Ile720=) c.1985T= (p.Ile662=) n.2136T= c.1982T= (p.Ile661=) c.2156T= (p.Ile719=) | |
| 7 | g.41967868A>C | CA367321674 | GLI3 | c.2159T>G (p.Ile720Ser) c.1985T>G (p.Ile662Ser) n.2136T>G c.1982T>G (p.Ile661Ser) c.2156T>G (p.Ile719Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967868A>G | CA367321675 | GLI3 | c.2159T>C (p.Ile720Thr) c.1985T>C (p.Ile662Thr) n.2136T>C c.1982T>C (p.Ile661Thr) c.2156T>C (p.Ile719Thr) | gnomAD v4 |
| 7 | g.41967868A>T | CA367321676 | GLI3 | c.2159T>A (p.Ile720Asn) c.1985T>A (p.Ile662Asn) n.2136T>A c.1982T>A (p.Ile661Asn) c.2156T>A (p.Ile719Asn) | |
| 7 | g.41967869T>A | CA367321677 | GLI3 | c.2158A>T (p.Ile720Phe) c.1984A>T (p.Ile662Phe) n.2135A>T c.1981A>T (p.Ile661Phe) c.2155A>T (p.Ile719Phe) | |
| 7 | g.41967869T>C | CA367321678 | GLI3 | c.2158A>G (p.Ile720Val) c.1984A>G (p.Ile662Val) n.2135A>G c.1981A>G (p.Ile661Val) c.2155A>G (p.Ile719Val) | |
| 7 | g.41967869T>G | CA367321679 | GLI3 | c.2158A>C (p.Ile720Leu) c.1984A>C (p.Ile662Leu) n.2135A>C c.1981A>C (p.Ile661Leu) c.2155A>C (p.Ile719Leu) | |
| 7 | g.41967869_41967870delinsTG | CA1702661956 | GLI3 | c.2157_2158delinsCA (p.Pro719=) c.1983_1984delinsCA (p.Pro661=) n.2134_2135delinsCA c.1980_1981delinsCA (p.Pro660=) c.2154_2155delinsCA (p.Pro718=) | |
| 7 | g.41967870G>A | CA454525132 | GLI3 | c.2157C>T (p.Pro719=) c.1983C>T (p.Pro661=) n.2134C>T c.1980C>T (p.Pro660=) c.2154C>T (p.Pro718=) | |
| 7 | g.41967870G>C | CA454525133 | GLI3 | c.2157C>G (p.Pro719=) c.1983C>G (p.Pro661=) n.2134C>G c.1980C>G (p.Pro660=) c.2154C>G (p.Pro718=) | |
| 7 | g.41967870G>T | CA454525135 | GLI3 | c.2157C>A (p.Pro719=) c.1983C>A (p.Pro661=) n.2134C>A c.1980C>A (p.Pro660=) c.2154C>A (p.Pro718=) | |
| 7 | g.41967874del | CA342925 | GLI3 | c.2157del (p.Ile720SerfsTer13) c.1983del (p.Ile662SerfsTer13) n.2134del c.1980del (p.Ile661SerfsTer13) c.2154del (p.Ile719SerfsTer13) | dbSNP |
| 7 | g.41967871G>A | CA367321680 | GLI3 | c.2156C>T (p.Pro719Leu) c.1982C>T (p.Pro661Leu) n.2133C>T c.1979C>T (p.Pro660Leu) c.2153C>T (p.Pro718Leu) | |
| 7 | g.41967871G>C | CA367321681 | GLI3 | c.2156C>G (p.Pro719Arg) c.1982C>G (p.Pro661Arg) n.2133C>G c.1979C>G (p.Pro660Arg) c.2153C>G (p.Pro718Arg) | |
| 7 | g.41967871G>T | CA367321682 | GLI3 | c.2156C>A (p.Pro719His) c.1982C>A (p.Pro661His) n.2133C>A c.1979C>A (p.Pro660His) c.2153C>A (p.Pro718His) | gnomAD v4 |
| 7 | g.41967872G>A | CA367321683 | GLI3 | c.2155C>T (p.Pro719Ser) c.1981C>T (p.Pro661Ser) n.2132C>T c.1978C>T (p.Pro660Ser) c.2152C>T (p.Pro718Ser) | |
| 7 | g.41967872G>C | CA367321685 | GLI3 | c.2155C>G (p.Pro719Ala) c.1981C>G (p.Pro661Ala) n.2132C>G c.1978C>G (p.Pro660Ala) c.2152C>G (p.Pro718Ala) | |
| 7 | g.41967872G>T | CA367321684 | GLI3 | c.2155C>A (p.Pro719Thr) c.1981C>A (p.Pro661Thr) n.2132C>A c.1978C>A (p.Pro660Thr) c.2152C>A (p.Pro718Thr) | |
| 7 | g.41967873G>A | CA454525141 | GLI3 | c.2154C>T (p.Ser718=) c.1980C>T (p.Ser660=) n.2131C>T c.1977C>T (p.Ser659=) c.2151C>T (p.Ser717=) | gnomAD v4 |
| 7 | g.41967873G>C | CA454525143 | GLI3 | c.2154C>G (p.Ser718=) c.1980C>G (p.Ser660=) n.2131C>G c.1977C>G (p.Ser659=) c.2151C>G (p.Ser717=) | |
| 7 | g.41967873G>T | CA454525145 | GLI3 | c.2154C>A (p.Ser718=) c.1980C>A (p.Ser660=) n.2131C>A c.1977C>A (p.Ser659=) c.2151C>A (p.Ser717=) | |
| 7 | g.41967874G>A | CA367321686 | GLI3 | c.2153C>T (p.Ser718Phe) c.1979C>T (p.Ser660Phe) n.2130C>T c.1976C>T (p.Ser659Phe) c.2150C>T (p.Ser717Phe) | |
| 7 | g.41967874G>C | CA367321688 | GLI3 | c.2153C>G (p.Ser718Cys) c.1979C>G (p.Ser660Cys) n.2130C>G c.1976C>G (p.Ser659Cys) c.2150C>G (p.Ser717Cys) | |
| 7 | g.41967874G>T | CA367321687 | GLI3 | c.2153C>A (p.Ser718Tyr) c.1979C>A (p.Ser660Tyr) n.2130C>A c.1976C>A (p.Ser659Tyr) c.2150C>A (p.Ser717Tyr) | |
| 7 | g.41967875A>C | CA367321689 | GLI3 | c.2152T>G (p.Ser718Ala) c.1978T>G (p.Ser660Ala) n.2129T>G c.1975T>G (p.Ser659Ala) c.2149T>G (p.Ser717Ala) | |
| 7 | g.41967875A>G | CA367321690 | GLI3 | c.2152T>C (p.Ser718Pro) c.1978T>C (p.Ser660Pro) n.2129T>C c.1975T>C (p.Ser659Pro) c.2149T>C (p.Ser717Pro) | |
| 7 | g.41967875A>T | CA367321691 | GLI3 | c.2152T>A (p.Ser718Thr) c.1978T>A (p.Ser660Thr) n.2129T>A c.1975T>A (p.Ser659Thr) c.2149T>A (p.Ser717Thr) | |
| 7 | g.41967876del | CA2825001547 | GLI3 | c.2151del (p.Gln717HisfsTer16) c.1977del (p.Gln659HisfsTer16) n.2128del c.1974del (p.Gln658HisfsTer16) c.2148del (p.Gln716HisfsTer16) | ClinVar |
| 7 | g.41967876C>A | CA367321692 | GLI3 | c.2151G>T (p.Gln717His) c.1977G>T (p.Gln659His) n.2128G>T c.1974G>T (p.Gln658His) c.2148G>T (p.Gln716His) | |
| 7 | g.41967876C= | CA1702661957 | GLI3 | c.2151G= (p.Gln717=) c.1977G= (p.Gln659=) n.2128G= c.1974G= (p.Gln658=) c.2148G= (p.Gln716=) | |
| 7 | g.41967876C>G | CA367321693 | GLI3 | c.2151G>C (p.Gln717His) c.1977G>C (p.Gln659His) n.2128G>C c.1974G>C (p.Gln658His) c.2148G>C (p.Gln716His) | |
| 7 | g.41967876C>T | CA454525148 | GLI3 | c.2151G>A (p.Gln717=) c.1977G>A (p.Gln659=) n.2128G>A c.1974G>A (p.Gln658=) c.2148G>A (p.Gln716=) | dbSNP |
| 7 | g.41967877T>A | CA367321694 | GLI3 | c.2150A>T (p.Gln717Leu) c.1976A>T (p.Gln659Leu) n.2127A>T c.1973A>T (p.Gln658Leu) c.2147A>T (p.Gln716Leu) | |
| 7 | g.41967877T>C | CA367321695 | GLI3 | c.2150A>G (p.Gln717Arg) c.1976A>G (p.Gln659Arg) n.2127A>G c.1973A>G (p.Gln658Arg) c.2147A>G (p.Gln716Arg) | |
| 7 | g.41967877T>G | CA367321696 | GLI3 | c.2150A>C (p.Gln717Pro) c.1976A>C (p.Gln659Pro) n.2127A>C c.1973A>C (p.Gln658Pro) c.2147A>C (p.Gln716Pro) | gnomAD v4 |
| 7 | g.41967877_41967878insA | CA2695207646 | GLI3 | c.2149_2150insT (p.Gln717LeufsTer21) c.1975_1976insT (p.Gln659LeufsTer21) n.2126_2127insT c.1972_1973insT (p.Gln658LeufsTer21) c.2146_2147insT (p.Gln716LeufsTer21) | |
| 7 | g.41967878G>A | CA342923 | GLI3 | c.2149C>T (p.Gln717Ter) c.1975C>T (p.Gln659Ter) n.2126C>T c.1972C>T (p.Gln658Ter) c.2146C>T (p.Gln716Ter) | ClinVar dbSNP |
| 7 | g.41967878G>C | CA367321697 | GLI3 | c.2149C>G (p.Gln717Glu) c.1975C>G (p.Gln659Glu) n.2126C>G c.1972C>G (p.Gln658Glu) c.2146C>G (p.Gln716Glu) | |
| 7 | g.41967878G= | CA1702661958 | GLI3 | c.2149C= (p.Gln717=) c.1975C= (p.Gln659=) n.2126C= c.1972C= (p.Gln658=) c.2146C= (p.Gln716=) | |
| 7 | g.41967878G>T | CA367321698 | GLI3 | c.2149C>A (p.Gln717Lys) c.1975C>A (p.Gln659Lys) n.2126C>A c.1972C>A (p.Gln658Lys) c.2146C>A (p.Gln716Lys) | |
| 7 | g.41967879T>A | CA367321699 | GLI3 | c.2148A>T (p.Gln716His) c.1974A>T (p.Gln658His) n.2125A>T c.1971A>T (p.Gln657His) c.2145A>T (p.Gln715His) | |
| 7 | g.41967879T>C | CA156909509 | GLI3 | c.2148A>G (p.Gln716=) c.1974A>G (p.Gln658=) n.2125A>G c.1971A>G (p.Gln657=) c.2145A>G (p.Gln715=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967879T>G | CA367321700 | GLI3 | c.2148A>C (p.Gln716His) c.1974A>C (p.Gln658His) n.2125A>C c.1971A>C (p.Gln657His) c.2145A>C (p.Gln715His) | |
| 7 | g.41967879T= | CA1702661959 | GLI3 | c.2148A= (p.Gln716=) c.1974A= (p.Gln658=) n.2125A= c.1971A= (p.Gln657=) c.2145A= (p.Gln715=) | |
| 7 | g.41967880del | CA2695207647 | GLI3 | c.2148del (p.Gln716HisfsTer17) c.1974del (p.Gln658HisfsTer17) n.2125del c.1971del (p.Gln657HisfsTer17) c.2145del (p.Gln715HisfsTer17) | |
| 7 | g.41967880T>A | CA367321701 | GLI3 | c.2147A>T (p.Gln716Leu) c.1973A>T (p.Gln658Leu) n.2124A>T c.1970A>T (p.Gln657Leu) c.2144A>T (p.Gln715Leu) | |
| 7 | g.41967880T>C | CA367321703 | GLI3 | c.2147A>G (p.Gln716Arg) c.1973A>G (p.Gln658Arg) n.2124A>G c.1970A>G (p.Gln657Arg) c.2144A>G (p.Gln715Arg) | |
| 7 | g.41967880T>G | CA367321702 | GLI3 | c.2147A>C (p.Gln716Pro) c.1973A>C (p.Gln658Pro) n.2124A>C c.1970A>C (p.Gln657Pro) c.2144A>C (p.Gln715Pro) | |
| 7 | g.41967881G>A | CA342921 | GLI3 | c.2146C>T (p.Gln716Ter) c.1972C>T (p.Gln658Ter) n.2123C>T c.1969C>T (p.Gln657Ter) c.2143C>T (p.Gln715Ter) | dbSNP |
| 7 | g.41967881G>C | CA367321704 | GLI3 | c.2146C>G (p.Gln716Glu) c.1972C>G (p.Gln658Glu) n.2123C>G c.1969C>G (p.Gln657Glu) c.2143C>G (p.Gln715Glu) | |
| 7 | g.41967881G= | CA1702661960 | GLI3 | c.2146C= (p.Gln716=) c.1972C= (p.Gln658=) n.2123C= c.1969C= (p.Gln657=) c.2143C= (p.Gln715=) | |
| 7 | g.41967881G>T | CA367321705 | GLI3 | c.2146C>A (p.Gln716Lys) c.1972C>A (p.Gln658Lys) n.2123C>A c.1969C>A (p.Gln657Lys) c.2143C>A (p.Gln715Lys) | |
| 7 | g.41967882del | CA2580077129 | GLI3 | c.2146del (p.Gln716AsnfsTer17) c.1972del (p.Gln658AsnfsTer17) n.2123del c.1969del (p.Gln657AsnfsTer17) c.2143del (p.Gln715AsnfsTer17) | ClinVar |
| 7 | g.41967882G>A | CA454525155 | GLI3 | c.2145C>T (p.Ser715=) c.1971C>T (p.Ser657=) n.2122C>T c.1968C>T (p.Ser656=) c.2142C>T (p.Ser714=) | |
| 7 | g.41967882G>C | CA367321706 | GLI3 | c.2145C>G (p.Ser715Arg) c.1971C>G (p.Ser657Arg) n.2122C>G c.1968C>G (p.Ser656Arg) c.2142C>G (p.Ser714Arg) | |
| 7 | g.41967882G>T | CA367321707 | GLI3 | c.2145C>A (p.Ser715Arg) c.1971C>A (p.Ser657Arg) n.2122C>A c.1968C>A (p.Ser656Arg) c.2142C>A (p.Ser714Arg) | |
| 7 | g.41967883C>A | CA367321708 | GLI3 | c.2144G>T (p.Ser715Ile) c.1970G>T (p.Ser657Ile) n.2121G>T c.1967G>T (p.Ser656Ile) c.2141G>T (p.Ser714Ile) | gnomAD v4 COSMIC |
| 7 | g.41967883C= | CA1702661961 | GLI3 | c.2144G= (p.Ser715=) c.1970G= (p.Ser657=) n.2121G= c.1967G= (p.Ser656=) c.2141G= (p.Ser714=) | |
| 7 | g.41967883C>G | CA367321709 | GLI3 | c.2144G>C (p.Ser715Thr) c.1970G>C (p.Ser657Thr) n.2121G>C c.1967G>C (p.Ser656Thr) c.2141G>C (p.Ser714Thr) | |
| 7 | g.41967883C>T | CA4230673 | GLI3 | c.2144G>A (p.Ser715Asn) c.1970G>A (p.Ser657Asn) n.2121G>A c.1967G>A (p.Ser656Asn) c.2141G>A (p.Ser714Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967884T>A | CA367321710 | GLI3 | c.2143A>T (p.Ser715Cys) c.1969A>T (p.Ser657Cys) n.2120A>T c.1966A>T (p.Ser656Cys) c.2140A>T (p.Ser714Cys) | |
| 7 | g.41967884T>C | CA367321711 | GLI3 | c.2143A>G (p.Ser715Gly) c.1969A>G (p.Ser657Gly) n.2120A>G c.1966A>G (p.Ser656Gly) c.2140A>G (p.Ser714Gly) | |
| 7 | g.41967884T>G | CA367321712 | GLI3 | c.2143A>C (p.Ser715Arg) c.1969A>C (p.Ser657Arg) n.2120A>C c.1966A>C (p.Ser656Arg) c.2140A>C (p.Ser714Arg) | |
| 7 | g.41967885G>A | CA454525160 | GLI3 | c.2142C>T (p.Ser714=) c.1968C>T (p.Ser656=) n.2119C>T c.1965C>T (p.Ser655=) c.2139C>T (p.Ser713=) | dbSNP gnomAD v4 |
| 7 | g.41967885G>C | CA367321713 | GLI3 | c.2142C>G (p.Ser714Arg) c.1968C>G (p.Ser656Arg) n.2119C>G c.1965C>G (p.Ser655Arg) c.2139C>G (p.Ser713Arg) | |
| 7 | g.41967885G= | CA1702661962 | GLI3 | c.2142C= (p.Ser714=) c.1968C= (p.Ser656=) n.2119C= c.1965C= (p.Ser655=) c.2139C= (p.Ser713=) | |
| 7 | g.41967885G>T | CA367321714 | GLI3 | c.2142C>A (p.Ser714Arg) c.1968C>A (p.Ser656Arg) n.2119C>A c.1965C>A (p.Ser655Arg) c.2139C>A (p.Ser713Arg) | |
| 7 | g.41967886C>A | CA367321715 | GLI3 | c.2141G>T (p.Ser714Ile) c.1967G>T (p.Ser656Ile) n.2118G>T c.1964G>T (p.Ser655Ile) c.2138G>T (p.Ser713Ile) | COSMIC |
| 7 | g.41967886C>G | CA367321716 | GLI3 | c.2141G>C (p.Ser714Thr) c.1967G>C (p.Ser656Thr) n.2118G>C c.1964G>C (p.Ser655Thr) c.2138G>C (p.Ser713Thr) | |
| 7 | g.41967886C>T | CA367321717 | GLI3 | c.2141G>A (p.Ser714Asn) c.1967G>A (p.Ser656Asn) n.2118G>A c.1964G>A (p.Ser655Asn) c.2138G>A (p.Ser713Asn) | |
| 7 | g.41967887T>A | CA367321718 | GLI3 | c.2140A>T (p.Ser714Cys) c.1966A>T (p.Ser656Cys) n.2117A>T c.1963A>T (p.Ser655Cys) c.2137A>T (p.Ser713Cys) | |
| 7 | g.41967887T>C | CA367321719 | GLI3 | c.2140A>G (p.Ser714Gly) c.1966A>G (p.Ser656Gly) n.2117A>G c.1963A>G (p.Ser655Gly) c.2137A>G (p.Ser713Gly) | |
| 7 | g.41967887T>G | CA367321720 | GLI3 | c.2140A>C (p.Ser714Arg) c.1966A>C (p.Ser656Arg) n.2117A>C c.1963A>C (p.Ser655Arg) c.2137A>C (p.Ser713Arg) | |
| 7 | g.41967887_41967888delinsTG | CA1702661963 | GLI3 | c.2139_2140delinsCA (p.Cys713=) c.1965_1966delinsCA (p.Cys655=) n.2116_2117delinsCA c.1962_1963delinsCA (p.Cys654=) c.2136_2137delinsCA (p.Cys712=) | |
| 7 | g.41967888del | CA342920 | GLI3 | c.2139del (p.Cys713Ter) c.1965del (p.Cys655Ter) n.2116del c.1962del (p.Cys654Ter) c.2136del (p.Cys712Ter) | dbSNP |
| 7 | g.41967888G>A | CA454525164 | GLI3 | c.2139C>T (p.Cys713=) c.1965C>T (p.Cys655=) n.2116C>T c.1962C>T (p.Cys654=) c.2136C>T (p.Cys712=) | |
| 7 | g.41967888G>C | CA367321721 | GLI3 | c.2139C>G (p.Cys713Trp) c.1965C>G (p.Cys655Trp) n.2116C>G c.1962C>G (p.Cys654Trp) c.2136C>G (p.Cys712Trp) | gnomAD v4 |
| 7 | g.41967888G>T | CA367321722 | GLI3 | c.2139C>A (p.Cys713Ter) c.1965C>A (p.Cys655Ter) n.2116C>A c.1962C>A (p.Cys654Ter) c.2136C>A (p.Cys712Ter) | |
| 7 | g.41967889C>A | CA367321723 | GLI3 | c.2138G>T (p.Cys713Phe) c.1964G>T (p.Cys655Phe) n.2115G>T c.1961G>T (p.Cys654Phe) c.2135G>T (p.Cys712Phe) | |
| 7 | g.41967889C>G | CA367321724 | GLI3 | c.2138G>C (p.Cys713Ser) c.1964G>C (p.Cys655Ser) n.2115G>C c.1961G>C (p.Cys654Ser) c.2135G>C (p.Cys712Ser) | |
| 7 | g.41967889C>T | CA367321725 | GLI3 | c.2138G>A (p.Cys713Tyr) c.1964G>A (p.Cys655Tyr) n.2115G>A c.1961G>A (p.Cys654Tyr) c.2135G>A (p.Cys712Tyr) |