Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.36663464C>A | CA389467107 | PAX9 | c.572C>A (p.Thr191Asn) c.11C>A (p.Thr4Asn) | gnomAD v4 |
14 | g.36663464C>G | CA389467106 | PAX9 | c.572C>G (p.Thr191Ser) c.11C>G (p.Thr4Ser) | |
14 | g.36663464C>T | CA389467105 | PAX9 | c.572C>T (p.Thr191Ile) c.11C>T (p.Thr4Ile) | gnomAD v4 |
14 | g.36663465C>A | CA485930886 | PAX9 | c.573C>A (p.Thr191=) c.12C>A (p.Thr4=) | |
14 | g.36663465C>G | CA485930887 | PAX9 | c.573C>G (p.Thr191=) c.12C>G (p.Thr4=) | |
14 | g.36663465C>T | CA485930888 | PAX9 | c.573C>T (p.Thr191=) c.12C>T (p.Thr4=) | |
14 | g.36663466T>A | CA389467108 | PAX9 | c.574T>A (p.Trp192Arg) c.13T>A (p.Trp5Arg) | |
14 | g.36663466T>C | CA7159000 | PAX9 | c.574T>C (p.Trp192Arg) c.13T>C (p.Trp5Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.36663466T>G | CA389467109 | PAX9 | c.574T>G (p.Trp192Gly) c.13T>G (p.Trp5Gly) | |
14 | g.36663466T= | CA2129502976 | PAX9 | c.574T= (p.Trp192=) c.13T= (p.Trp5=) | |
14 | g.36663467G>A | CA389467110 | PAX9 | c.575G>A (p.Trp192Ter) c.14G>A (p.Trp5Ter) | |
14 | g.36663467G>C | CA258926772 | PAX9 | c.575G>C (p.Trp192Ser) c.14G>C (p.Trp5Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.36663467G= | CA2129502979 | PAX9 | c.575G= (p.Trp192=) c.14G= (p.Trp5=) | |
14 | g.36663467G>T | CA389467111 | PAX9 | c.575G>T (p.Trp192Leu) c.14G>T (p.Trp5Leu) | |
14 | g.36663468G>A | CA389467112 | PAX9 | c.576G>A (p.Trp192Ter) c.15G>A (p.Trp5Ter) | |
14 | g.36663468G>C | CA389467113 | PAX9 | c.576G>C (p.Trp192Cys) c.15G>C (p.Trp5Cys) | |
14 | g.36663468G>T | CA389467114 | PAX9 | c.576G>T (p.Trp192Cys) c.15G>T (p.Trp5Cys) | gnomAD v4 |
14 | g.36663469C>A | CA389467115 | PAX9 | c.577C>A (p.Pro193Thr) c.16C>A (p.Pro6Thr) | |
14 | g.36663469C= | CA2129502982 | PAX9 | c.577C= (p.Pro193=) c.16C= (p.Pro6=) | |
14 | g.36663469C>G | CA7159001 | PAX9 | c.577C>G (p.Pro193Ala) c.16C>G (p.Pro6Ala) | dbSNP ExAC gnomAD v2 |
14 | g.36663469C>T | CA389467116 | PAX9 | c.577C>T (p.Pro193Ser) c.16C>T (p.Pro6Ser) | gnomAD v4 |
14 | g.36663470C>A | CA389467119 | PAX9 | c.578C>A (p.Pro193His) c.17C>A (p.Pro6His) | |
14 | g.36663470C= | CA2129502988 | PAX9 | c.578C= (p.Pro193=) c.17C= (p.Pro6=) | |
14 | g.36663470C>G | CA389467118 | PAX9 | c.578C>G (p.Pro193Arg) c.17C>G (p.Pro6Arg) | |
14 | g.36663470C>T | CA389467117 | PAX9 | c.578C>T (p.Pro193Leu) c.17C>T (p.Pro6Leu) | dbSNP gnomAD v4 COSMIC |
14 | g.36663471C>A | CA485930889 | PAX9 | c.579C>A (p.Pro193=) c.18C>A (p.Pro6=) | |
14 | g.36663471C>G | CA485930890 | PAX9 | c.579C>G (p.Pro193=) c.18C>G (p.Pro6=) | |
14 | g.36663471C>T | CA485930891 | PAX9 | c.579C>T (p.Pro193=) c.18C>T (p.Pro6=) | |
14 | g.36663472T>A | CA389467120 | PAX9 | c.580T>A (p.Ser194Thr) c.19T>A (p.Ser7Thr) | |
14 | g.36663472T>C | CA389467121 | PAX9 | c.580T>C (p.Ser194Pro) c.19T>C (p.Ser7Pro) | |
14 | g.36663472T>G | CA389467122 | PAX9 | c.580T>G (p.Ser194Ala) c.19T>G (p.Ser7Ala) | |
14 | g.36663473C>A | CA389467123 | PAX9 | c.581C>A (p.Ser194Tyr) c.20C>A (p.Ser7Tyr) | |
14 | g.36663473C= | CA2129502992 | PAX9 | c.581C= (p.Ser194=) c.20C= (p.Ser7=) | |
14 | g.36663473C>G | CA389467124 | PAX9 | c.581C>G (p.Ser194Cys) c.20C>G (p.Ser7Cys) | |
14 | g.36663473C>T | CA389467125 | PAX9 | c.581C>T (p.Ser194Phe) c.20C>T (p.Ser7Phe) | dbSNP |
14 | g.36663474C>A | CA485930892 | PAX9 | c.582C>A (p.Ser194=) c.21C>A (p.Ser7=) | |
14 | g.36663474C= | CA2129502994 | PAX9 | c.582C= (p.Ser194=) c.21C= (p.Ser7=) | |
14 | g.36663474C>G | CA485930893 | PAX9 | c.582C>G (p.Ser194=) c.21C>G (p.Ser7=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.36663474C>T | CA485930894 | PAX9 | c.582C>T (p.Ser194=) c.21C>T (p.Ser7=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.36663475T>A | CA389467126 | PAX9 | c.583T>A (p.Ser195Thr) c.22T>A (p.Ser8Thr) | |
14 | g.36663475T>C | CA389467128 | PAX9 | c.583T>C (p.Ser195Pro) c.22T>C (p.Ser8Pro) | |
14 | g.36663475T>G | CA389467127 | PAX9 | c.583T>G (p.Ser195Ala) c.22T>G (p.Ser8Ala) | |
14 | g.36663476C>A | CA389467129 | PAX9 | c.584C>A (p.Ser195Ter) c.23C>A (p.Ser8Ter) | |
14 | g.36663476C= | CA2129503001 | PAX9 | c.584C= (p.Ser195=) c.23C= (p.Ser8=) | |
14 | g.36663476C>G | CA389467130 | PAX9 | c.584C>G (p.Ser195Trp) c.23C>G (p.Ser8Trp) | |
14 | g.36663476C>T | CA7159002 | PAX9 | c.584C>T (p.Ser195Leu) c.23C>T (p.Ser8Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.36663477G>A | CA485930897 | PAX9 | c.585G>A (p.Ser195=) c.24G>A (p.Ser8=) | dbSNP gnomAD v2 |
14 | g.36663477G>C | CA485930896 | PAX9 | c.585G>C (p.Ser195=) c.24G>C (p.Ser8=) | |
14 | g.36663477G= | CA2129503003 | PAX9 | c.585G= (p.Ser195=) c.24G= (p.Ser8=) | |
14 | g.36663477G>T | CA485930895 | PAX9 | c.585G>T (p.Ser195=) c.24G>T (p.Ser8=) |