Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
6 | g.7585538_7585587dup | CA2769904084 | DSP | c.6947_6996dup (p.Cys2333AlafsTer16) c.8276_8325dup (p.Cys2776AlafsTer16) c.6479_6528dup (p.Cys2177AlafsTer16) | |
6 | g.7585571A= | CA1608614958 | DSP | c.6980A= (p.Tyr2327=) c.8309A= (p.Tyr2770=) c.6512A= (p.Tyr2171=) | |
6 | g.7585571A>C | CA362694885 | DSP | c.6980A>C (p.Tyr2327Ser) c.8309A>C (p.Tyr2770Ser) c.6512A>C (p.Tyr2171Ser) | |
6 | g.7585571A>G | CA052047 | DSP | c.6980A>G (p.Tyr2327Cys) c.8309A>G (p.Tyr2770Cys) c.6512A>G (p.Tyr2171Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585571A>T | CA362694886 | DSP | c.6980A>T (p.Tyr2327Phe) c.8309A>T (p.Tyr2770Phe) c.6512A>T (p.Tyr2171Phe) | |
6 | g.7585572T>A | CA362694887 | DSP | c.6981T>A (p.Tyr2327Ter) c.8310T>A (p.Tyr2770Ter) c.6513T>A (p.Tyr2171Ter) | |
6 | g.7585572T>C | CA052058 | DSP | c.6981T>C (p.Tyr2327=) c.8310T>C (p.Tyr2770=) c.6513T>C (p.Tyr2171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585572T>G | CA362694888 | DSP | c.6981T>G (p.Tyr2327Ter) c.8310T>G (p.Tyr2770Ter) c.6513T>G (p.Tyr2171Ter) | |
6 | g.7585572T= | CA1608614960 | DSP | c.6981T= (p.Tyr2327=) c.8310T= (p.Tyr2770=) c.6513T= (p.Tyr2171=) | |
6 | g.7585573G>A | CA362694889 | DSP | c.6982G>A (p.Ala2328Thr) c.8311G>A (p.Ala2771Thr) c.6514G>A (p.Ala2172Thr) | |
6 | g.7585573G>C | CA362694891 | DSP | c.6982G>C (p.Ala2328Pro) c.8311G>C (p.Ala2771Pro) c.6514G>C (p.Ala2172Pro) | gnomAD v4 |
6 | g.7585573G>T | CA362694890 | DSP | c.6982G>T (p.Ala2328Ser) c.8311G>T (p.Ala2771Ser) c.6514G>T (p.Ala2172Ser) | gnomAD v4 |
6 | g.7585574C>A | CA362694892 | DSP | c.6983C>A (p.Ala2328Asp) c.8312C>A (p.Ala2771Asp) c.6515C>A (p.Ala2172Asp) | |
6 | g.7585574C= | CA1608614962 | DSP | c.6983C= (p.Ala2328=) c.8312C= (p.Ala2771=) c.6515C= (p.Ala2172=) | |
6 | g.7585574C>G | CA362694893 | DSP | c.6983C>G (p.Ala2328Gly) c.8312C>G (p.Ala2771Gly) c.6515C>G (p.Ala2172Gly) | |
6 | g.7585574C>T | CA362694894 | DSP | c.6983C>T (p.Ala2328Val) c.8312C>T (p.Ala2771Val) c.6515C>T (p.Ala2172Val) | ClinVar dbSNP |
6 | g.7585575C>A | CA448716894 | DSP | c.6984C>A (p.Ala2328=) c.8313C>A (p.Ala2771=) c.6516C>A (p.Ala2172=) | |
6 | g.7585575C= | CA1608614965 | DSP | c.6984C= (p.Ala2328=) c.8313C= (p.Ala2771=) c.6516C= (p.Ala2172=) | |
6 | g.7585575C>G | CA448716895 | DSP | c.6984C>G (p.Ala2328=) c.8313C>G (p.Ala2771=) c.6516C>G (p.Ala2172=) | |
6 | g.7585575C>T | CA133977721 | DSP | c.6984C>T (p.Ala2328=) c.8313C>T (p.Ala2771=) c.6516C>T (p.Ala2172=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585576A= | CA1608614967 | DSP | c.6985A= (p.Lys2329=) c.8314A= (p.Lys2772=) c.6517A= (p.Lys2173=) | |
6 | g.7585576A>C | CA362694895 | DSP | c.6985A>C (p.Lys2329Gln) c.8314A>C (p.Lys2772Gln) c.6517A>C (p.Lys2173Gln) | |
6 | g.7585576A>G | CA052063 | DSP | c.6985A>G (p.Lys2329Glu) c.8314A>G (p.Lys2772Glu) c.6517A>G (p.Lys2173Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585576A>T | CA362694896 | DSP | c.6985A>T (p.Lys2329Ter) c.8314A>T (p.Lys2772Ter) c.6517A>T (p.Lys2173Ter) | |
6 | g.7585577A>C | CA362694897 | DSP | c.6986A>C (p.Lys2329Thr) c.8315A>C (p.Lys2772Thr) c.6518A>C (p.Lys2173Thr) | |
6 | g.7585577A>G | CA362694898 | DSP | c.6986A>G (p.Lys2329Arg) c.8315A>G (p.Lys2772Arg) c.6518A>G (p.Lys2173Arg) | |
6 | g.7585577A>T | CA362694899 | DSP | c.6986A>T (p.Lys2329Ile) c.8315A>T (p.Lys2772Ile) c.6518A>T (p.Lys2173Ile) | |
6 | g.7585581_7585603del | CA2573140824 | DSP | c.6990_7012del (p.Leu2331LysfsTer5) c.8319_8341del (p.Leu2774LysfsTer5) c.6522_6544del (p.Leu2175LysfsTer5) | ClinVar dbSNP |
6 | g.7585578A>C | CA362694900 | DSP | c.6987A>C (p.Lys2329Asn) c.8316A>C (p.Lys2772Asn) c.6519A>C (p.Lys2173Asn) | ClinVar |
6 | g.7585578A>G | CA448716899 | DSP | c.6987A>G (p.Lys2329=) c.8316A>G (p.Lys2772=) c.6519A>G (p.Lys2173=) | ClinVar dbSNP gnomAD v4 |
6 | g.7585578A>T | CA362694901 | DSP | c.6987A>T (p.Lys2329Asn) c.8316A>T (p.Lys2772Asn) c.6519A>T (p.Lys2173Asn) | |
6 | g.7585579A>C | CA362694902 | DSP | c.6988A>C (p.Ile2330Leu) c.8317A>C (p.Ile2773Leu) c.6520A>C (p.Ile2174Leu) | |
6 | g.7585579A>G | CA362694904 | DSP | c.6988A>G (p.Ile2330Val) c.8317A>G (p.Ile2773Val) c.6520A>G (p.Ile2174Val) | ClinVar |
6 | g.7585579A>T | CA362694903 | DSP | c.6988A>T (p.Ile2330Phe) c.8317A>T (p.Ile2773Phe) c.6520A>T (p.Ile2174Phe) | |
6 | g.7585580T>A | CA362694905 | DSP | c.6989T>A (p.Ile2330Asn) c.8318T>A (p.Ile2773Asn) c.6521T>A (p.Ile2174Asn) | |
6 | g.7585580T>C | CA362694907 | DSP | c.6989T>C (p.Ile2330Thr) c.8318T>C (p.Ile2773Thr) c.6521T>C (p.Ile2174Thr) | |
6 | g.7585580T>G | CA362694906 | DSP | c.6989T>G (p.Ile2330Ser) c.8318T>G (p.Ile2773Ser) c.6521T>G (p.Ile2174Ser) | |
6 | g.7585581C>A | CA448716906 | DSP | c.6990C>A (p.Ile2330=) c.8319C>A (p.Ile2773=) c.6522C>A (p.Ile2174=) | |
6 | g.7585581C= | CA1608614972 | DSP | c.6990C= (p.Ile2330=) c.8319C= (p.Ile2773=) c.6522C= (p.Ile2174=) | |
6 | g.7585581C>G | CA133977753 | DSP | c.6990C>G (p.Ile2330Met) c.8319C>G (p.Ile2773Met) c.6522C>G (p.Ile2174Met) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.7585581C>T | CA448716903 | DSP | c.6990C>T (p.Ile2330=) c.8319C>T (p.Ile2773=) c.6522C>T (p.Ile2174=) | ClinVar |
6 | g.7585582C>A | CA362694908 | DSP | c.6991C>A (p.Leu2331Met) c.8320C>A (p.Leu2774Met) c.6523C>A (p.Leu2175Met) | |
6 | g.7585582C= | CA1608614976 | DSP | c.6991C= (p.Leu2331=) c.8320C= (p.Leu2774=) c.6523C= (p.Leu2175=) | |
6 | g.7585582C>G | CA362694909 | DSP | c.6991C>G (p.Leu2331Val) c.8320C>G (p.Leu2774Val) c.6523C>G (p.Leu2175Val) | |
6 | g.7585582C>T | CA007465 | DSP | c.6991C>T (p.Leu2331=) c.8320C>T (p.Leu2774=) c.6523C>T (p.Leu2175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585583T>A | CA362694910 | DSP | c.6992T>A (p.Leu2331Gln) c.8321T>A (p.Leu2774Gln) c.6524T>A (p.Leu2175Gln) |