| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967774_41967775delinsGT | CA1702661915 | GLI3 | c.2252_2253delinsAC (p.Asp751=) c.2078_2079delinsAC (p.Asp693=) n.2229_2230delinsAC c.2075_2076delinsAC (p.Asp692=) c.2249_2250delinsAC (p.Asp750=) | |
| 7 | g.41967775del | CA16043665 | GLI3 | c.2252del (p.Asp751AlafsTer28) c.2078del (p.Asp693AlafsTer28) n.2229del c.2075del (p.Asp692AlafsTer28) c.2249del (p.Asp750AlafsTer28) | ClinVar dbSNP |
| 7 | g.41967775T>A | CA367321477 | GLI3 | c.2252A>T (p.Asp751Val) c.2078A>T (p.Asp693Val) n.2229A>T c.2075A>T (p.Asp692Val) c.2249A>T (p.Asp750Val) | |
| 7 | g.41967775T>C | CA367321476 | GLI3 | c.2252A>G (p.Asp751Gly) c.2078A>G (p.Asp693Gly) n.2229A>G c.2075A>G (p.Asp692Gly) c.2249A>G (p.Asp750Gly) | |
| 7 | g.41967775T>G | CA367321475 | GLI3 | c.2252A>C (p.Asp751Ala) c.2078A>C (p.Asp693Ala) n.2229A>C c.2075A>C (p.Asp692Ala) c.2249A>C (p.Asp750Ala) | dbSNP |
| 7 | g.41967776C>A | CA367321478 | GLI3 | c.2251G>T (p.Asp751Tyr) c.2077G>T (p.Asp693Tyr) n.2228G>T c.2074G>T (p.Asp692Tyr) c.2248G>T (p.Asp750Tyr) | dbSNP |
| 7 | g.41967776C>G | CA367321479 | GLI3 | c.2251G>C (p.Asp751His) c.2077G>C (p.Asp693His) n.2228G>C c.2074G>C (p.Asp692His) c.2248G>C (p.Asp750His) | dbSNP |
| 7 | g.41967776C>T | CA367321480 | GLI3 | c.2251G>A (p.Asp751Asn) c.2077G>A (p.Asp693Asn) n.2228G>A c.2074G>A (p.Asp692Asn) c.2248G>A (p.Asp750Asn) | dbSNP COSMIC |
| 7 | g.41967777C>A | CA367321481 | GLI3 | c.2250G>T (p.Met750Ile) c.2076G>T (p.Met692Ile) n.2227G>T c.2073G>T (p.Met691Ile) c.2247G>T (p.Met749Ile) | dbSNP |
| 7 | g.41967777C= | CA1702661917 | GLI3 | c.2250G= (p.Met750=) c.2076G= (p.Met692=) n.2227G= c.2073G= (p.Met691=) c.2247G= (p.Met749=) | |
| 7 | g.41967777C>G | CA367321482 | GLI3 | c.2250G>C (p.Met750Ile) c.2076G>C (p.Met692Ile) n.2227G>C c.2073G>C (p.Met691Ile) c.2247G>C (p.Met749Ile) | dbSNP gnomAD v4 |
| 7 | g.41967777C>T | CA156909266 | GLI3 | c.2250G>A (p.Met750Ile) c.2076G>A (p.Met692Ile) n.2227G>A c.2073G>A (p.Met691Ile) c.2247G>A (p.Met749Ile) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41967778A= | CA1702661918 | GLI3 | c.2249T= (p.Met750=) c.2075T= (p.Met692=) n.2226T= c.2072T= (p.Met691=) c.2246T= (p.Met749=) | |
| 7 | g.41967778A>C | CA367321483 | GLI3 | c.2249T>G (p.Met750Arg) c.2075T>G (p.Met692Arg) n.2226T>G c.2072T>G (p.Met691Arg) c.2246T>G (p.Met749Arg) | |
| 7 | g.41967778A>G | CA4230652 | GLI3 | c.2249T>C (p.Met750Thr) c.2075T>C (p.Met692Thr) n.2226T>C c.2072T>C (p.Met691Thr) c.2246T>C (p.Met749Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967778A>T | CA367321484 | GLI3 | c.2249T>A (p.Met750Lys) c.2075T>A (p.Met692Lys) n.2226T>A c.2072T>A (p.Met691Lys) c.2246T>A (p.Met749Lys) | dbSNP |
| 7 | g.41967779T>A | CA367321485 | GLI3 | c.2248A>T (p.Met750Leu) c.2074A>T (p.Met692Leu) n.2225A>T c.2071A>T (p.Met691Leu) c.2245A>T (p.Met749Leu) | dbSNP |
| 7 | g.41967779T>C | CA4230653 | GLI3 | c.2248A>G (p.Met750Val) c.2074A>G (p.Met692Val) n.2225A>G c.2071A>G (p.Met691Val) c.2245A>G (p.Met749Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41967779T>G | CA367321486 | GLI3 | c.2248A>C (p.Met750Leu) c.2074A>C (p.Met692Leu) n.2225A>C c.2071A>C (p.Met691Leu) c.2245A>C (p.Met749Leu) | |
| 7 | g.41967779T= | CA1702661919 | GLI3 | c.2248A= (p.Met750=) c.2074A= (p.Met692=) n.2225A= c.2071A= (p.Met691=) c.2245A= (p.Met749=) | |
| 7 | g.41967780G>A | CA454663461 | GLI3 | c.2247C>T (p.Ile749=) c.2073C>T (p.Ile691=) n.2224C>T c.2070C>T (p.Ile690=) c.2244C>T (p.Ile748=) | dbSNP |
| 7 | g.41967780G>C | CA367321487 | GLI3 | c.2247C>G (p.Ile749Met) c.2073C>G (p.Ile691Met) n.2224C>G c.2070C>G (p.Ile690Met) c.2244C>G (p.Ile748Met) | dbSNP |
| 7 | g.41967780G>T | CA454663462 | GLI3 | c.2247C>A (p.Ile749=) c.2073C>A (p.Ile691=) n.2224C>A c.2070C>A (p.Ile690=) c.2244C>A (p.Ile748=) | |
| 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 |