| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967781A>C | CA367321490 | GLI3 | c.2246T>G (p.Ile749Ser) c.2072T>G (p.Ile691Ser) n.2223T>G c.2069T>G (p.Ile690Ser) c.2243T>G (p.Ile748Ser) | |
| 7 | g.41967781A>G | CA367321488 | GLI3 | c.2246T>C (p.Ile749Thr) c.2072T>C (p.Ile691Thr) n.2223T>C c.2069T>C (p.Ile690Thr) c.2243T>C (p.Ile748Thr) | |
| 7 | g.41967781A>T | CA367321489 | GLI3 | c.2246T>A (p.Ile749Asn) c.2072T>A (p.Ile691Asn) n.2223T>A c.2069T>A (p.Ile690Asn) c.2243T>A (p.Ile748Asn) | dbSNP |
| 7 | g.41967782T>A | CA367321491 | GLI3 | c.2245A>T (p.Ile749Phe) c.2071A>T (p.Ile691Phe) n.2222A>T c.2068A>T (p.Ile690Phe) c.2242A>T (p.Ile748Phe) | |
| 7 | g.41967782T>C | CA4230654 | GLI3 | c.2245A>G (p.Ile749Val) c.2071A>G (p.Ile691Val) n.2222A>G c.2068A>G (p.Ile690Val) c.2242A>G (p.Ile748Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41967782T>G | CA367321492 | GLI3 | c.2245A>C (p.Ile749Leu) c.2071A>C (p.Ile691Leu) n.2222A>C c.2068A>C (p.Ile690Leu) c.2242A>C (p.Ile748Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41967782T= | CA1702661920 | GLI3 | c.2245A= (p.Ile749=) c.2071A= (p.Ile691=) n.2222A= c.2068A= (p.Ile690=) c.2242A= (p.Ile748=) | |
| 7 | g.41967783T>A | CA454663463 | GLI3 | c.2244A>T (p.Pro748=) c.2070A>T (p.Pro690=) n.2221A>T c.2067A>T (p.Pro689=) c.2241A>T (p.Pro747=) | |
| 7 | g.41967783T>C | CA454663464 | GLI3 | c.2244A>G (p.Pro748=) c.2070A>G (p.Pro690=) n.2221A>G c.2067A>G (p.Pro689=) c.2241A>G (p.Pro747=) | |
| 7 | g.41967783T>G | CA454663465 | GLI3 | c.2244A>C (p.Pro748=) c.2070A>C (p.Pro690=) n.2221A>C c.2067A>C (p.Pro689=) c.2241A>C (p.Pro747=) | |
| 7 | g.41967784G>A | CA367321493 | GLI3 | c.2243C>T (p.Pro748Leu) c.2069C>T (p.Pro690Leu) n.2220C>T c.2066C>T (p.Pro689Leu) c.2240C>T (p.Pro747Leu) | dbSNP gnomAD v4 |
| 7 | g.41967784G>C | CA367321494 | GLI3 | c.2243C>G (p.Pro748Arg) c.2069C>G (p.Pro690Arg) n.2220C>G c.2066C>G (p.Pro689Arg) c.2240C>G (p.Pro747Arg) | |
| 7 | g.41967784G>T | CA367321495 | GLI3 | c.2243C>A (p.Pro748Gln) c.2069C>A (p.Pro690Gln) n.2220C>A c.2066C>A (p.Pro689Gln) c.2240C>A (p.Pro747Gln) | dbSNP |
| 7 | g.41967785G>A | CA367321496 | GLI3 | c.2242C>T (p.Pro748Ser) c.2068C>T (p.Pro690Ser) n.2219C>T c.2065C>T (p.Pro689Ser) c.2239C>T (p.Pro747Ser) | dbSNP |
| 7 | g.41967785G>C | CA367321497 | GLI3 | c.2242C>G (p.Pro748Ala) c.2068C>G (p.Pro690Ala) n.2219C>G c.2065C>G (p.Pro689Ala) c.2239C>G (p.Pro747Ala) | dbSNP |
| 7 | g.41967785G= | CA1702661922 | GLI3 | c.2242C= (p.Pro748=) c.2068C= (p.Pro690=) n.2219C= c.2065C= (p.Pro689=) c.2239C= (p.Pro747=) | |
| 7 | g.41967785G>T | CA367321498 | GLI3 | c.2242C>A (p.Pro748Thr) c.2068C>A (p.Pro690Thr) n.2219C>A c.2065C>A (p.Pro689Thr) c.2239C>A (p.Pro747Thr) | dbSNP |
| 7 | g.41967785_41967788delinsGGGT | CA1702661921 | GLI3 | c.2239_2242delinsACCC (p.Thr747=) c.2065_2068delinsACCC (p.Thr689=) n.2216_2219delinsACCC c.2062_2065delinsACCC (p.Thr688=) c.2236_2239delinsACCC (p.Thr746=) | |
| 7 | g.41967786G>A | CA454663467 | GLI3 | c.2241C>T (p.Thr747=) c.2067C>T (p.Thr689=) n.2218C>T c.2064C>T (p.Thr688=) c.2238C>T (p.Thr746=) | dbSNP gnomAD v4 |
| 7 | g.41967786G>C | CA454663468 | GLI3 | c.2241C>G (p.Thr747=) c.2067C>G (p.Thr689=) n.2218C>G c.2064C>G (p.Thr688=) c.2238C>G (p.Thr746=) | dbSNP |
| 7 | g.41967786G>T | CA454663469 | GLI3 | c.2241C>A (p.Thr747=) c.2067C>A (p.Thr689=) n.2218C>A c.2064C>A (p.Thr688=) c.2238C>A (p.Thr746=) | gnomAD v4 |
| 7 | g.41967786_41967788del | CA4230655 | GLI3 | c.2239_2241del (p.Thr747del) c.2065_2067del (p.Thr689del) n.2216_2218del c.2062_2064del (p.Thr688del) c.2236_2238del (p.Thr746del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41967787G>A | CA367321501 | GLI3 | c.2240C>T (p.Thr747Ile) c.2066C>T (p.Thr689Ile) n.2217C>T c.2063C>T (p.Thr688Ile) c.2237C>T (p.Thr746Ile) | dbSNP gnomAD v4 |
| 7 | g.41967787G>C | CA367321500 | GLI3 | c.2240C>G (p.Thr747Ser) c.2066C>G (p.Thr689Ser) n.2217C>G c.2063C>G (p.Thr688Ser) c.2237C>G (p.Thr746Ser) | dbSNP |
| 7 | g.41967787G= | CA1702661923 | GLI3 | c.2240C= (p.Thr747=) c.2066C= (p.Thr689=) n.2217C= c.2063C= (p.Thr688=) c.2237C= (p.Thr746=) | |
| 7 | g.41967787G>T | CA367321499 | GLI3 | c.2240C>A (p.Thr747Asn) c.2066C>A (p.Thr689Asn) n.2217C>A c.2063C>A (p.Thr688Asn) c.2237C>A (p.Thr746Asn) | dbSNP gnomAD v4 |
| 7 | g.41967788T>A | CA367321502 | GLI3 | c.2239A>T (p.Thr747Ser) c.2065A>T (p.Thr689Ser) n.2216A>T c.2062A>T (p.Thr688Ser) c.2236A>T (p.Thr746Ser) | dbSNP |
| 7 | g.41967788T>C | CA367321503 | GLI3 | c.2239A>G (p.Thr747Ala) c.2065A>G (p.Thr689Ala) n.2216A>G c.2062A>G (p.Thr688Ala) c.2236A>G (p.Thr746Ala) | |
| 7 | g.41967788T>G | CA367321504 | GLI3 | c.2239A>C (p.Thr747Pro) c.2065A>C (p.Thr689Pro) n.2216A>C c.2062A>C (p.Thr688Pro) c.2236A>C (p.Thr746Pro) | dbSNP |
| 7 | g.41967788T= | CA1702661924 | GLI3 | c.2239A= (p.Thr747=) c.2065A= (p.Thr689=) n.2216A= c.2062A= (p.Thr688=) c.2236A= (p.Thr746=) | |
| 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 |