| 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.7585567A>C | CA362694874 | DSP | c.6976A>C (p.Ser2326Arg) c.8305A>C (p.Ser2769Arg) c.6508A>C (p.Ser2170Arg) | |
| 6 | g.7585567A>G | CA362694876 | DSP | c.6976A>G (p.Ser2326Gly) c.8305A>G (p.Ser2769Gly) c.6508A>G (p.Ser2170Gly) | ClinVar |
| 6 | g.7585567A>T | CA362694875 | DSP | c.6976A>T (p.Ser2326Cys) c.8305A>T (p.Ser2769Cys) c.6508A>T (p.Ser2170Cys) | |
| 6 | g.7585568G>A | CA362694877 | DSP | c.6977G>A (p.Ser2326Asn) c.8306G>A (p.Ser2769Asn) c.6509G>A (p.Ser2170Asn) | |
| 6 | g.7585568G>C | CA362694878 | DSP | c.6977G>C (p.Ser2326Thr) c.8306G>C (p.Ser2769Thr) c.6509G>C (p.Ser2170Thr) | gnomAD v4 |
| 6 | g.7585568G>T | CA362694879 | DSP | c.6977G>T (p.Ser2326Ile) c.8306G>T (p.Ser2769Ile) c.6509G>T (p.Ser2170Ile) | |
| 6 | g.7585569C>A | CA362694880 | DSP | c.6978C>A (p.Ser2326Arg) c.8307C>A (p.Ser2769Arg) c.6510C>A (p.Ser2170Arg) | |
| 6 | g.7585569C>G | CA362694881 | DSP | c.6978C>G (p.Ser2326Arg) c.8307C>G (p.Ser2769Arg) c.6510C>G (p.Ser2170Arg) | |
| 6 | g.7585569C>T | CA448716885 | DSP | c.6978C>T (p.Ser2326=) c.8307C>T (p.Ser2769=) c.6510C>T (p.Ser2170=) | |
| 6 | g.7585570T>A | CA362694884 | DSP | c.6979T>A (p.Tyr2327Asn) c.8308T>A (p.Tyr2770Asn) c.6511T>A (p.Tyr2171Asn) | |
| 6 | g.7585570T>C | CA362694883 | DSP | c.6979T>C (p.Tyr2327His) c.8308T>C (p.Tyr2770His) c.6511T>C (p.Tyr2171His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585570T>G | CA362694882 | DSP | c.6979T>G (p.Tyr2327Asp) c.8308T>G (p.Tyr2770Asp) c.6511T>G (p.Tyr2171Asp) | |
| 6 | g.7585570T= | CA1608614948 | DSP | c.6979T= (p.Tyr2327=) c.8308T= (p.Tyr2770=) c.6511T= (p.Tyr2171=) | |
| 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) | ClinVar |
| 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=) | ClinVar 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) | |
| 6 | g.7585583T>C | CA362694911 | DSP | c.6992T>C (p.Leu2331Pro) c.8321T>C (p.Leu2774Pro) c.6524T>C (p.Leu2175Pro) | COSMIC |
| 6 | g.7585583T>G | CA362694912 | DSP | c.6992T>G (p.Leu2331Arg) c.8321T>G (p.Leu2774Arg) c.6524T>G (p.Leu2175Arg) | |
| 6 | g.7585584G>A | CA448716912 | DSP | c.6993G>A (p.Leu2331=) c.8322G>A (p.Leu2774=) c.6525G>A (p.Leu2175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585584G>C | CA448716913 | DSP | c.6993G>C (p.Leu2331=) c.8322G>C (p.Leu2774=) c.6525G>C (p.Leu2175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585584G= | CA1608614981 | DSP | c.6993G= (p.Leu2331=) c.8322G= (p.Leu2774=) c.6525G= (p.Leu2175=) | |
| 6 | g.7585584G>T | CA448716914 | DSP | c.6993G>T (p.Leu2331=) c.8322G>T (p.Leu2774=) c.6525G>T (p.Leu2175=) | |
| 6 | g.7585585A= | CA1608614988 | DSP | c.6994A= (p.Thr2332=) c.8323A= (p.Thr2775=) c.6526A= (p.Thr2176=) | |
| 6 | g.7585585A>C | CA362694913 | DSP | c.6994A>C (p.Thr2332Pro) c.8323A>C (p.Thr2775Pro) c.6526A>C (p.Thr2176Pro) | dbSNP |
| 6 | g.7585585A>G | CA362694914 | DSP | c.6994A>G (p.Thr2332Ala) c.8323A>G (p.Thr2775Ala) c.6526A>G (p.Thr2176Ala) | gnomAD v4 |
| 6 | g.7585585A>T | CA362694915 | DSP | c.6994A>T (p.Thr2332Ser) c.8323A>T (p.Thr2775Ser) c.6526A>T (p.Thr2176Ser) | |
| 6 | g.7585586C>A | CA362694918 | DSP | c.6995C>A (p.Thr2332Asn) c.8324C>A (p.Thr2775Asn) c.6527C>A (p.Thr2176Asn) | |
| 6 | g.7585586C= | CA1608614997 | DSP | c.6995C= (p.Thr2332=) c.8324C= (p.Thr2775=) c.6527C= (p.Thr2176=) | |
| 6 | g.7585586C>G | CA362694917 | DSP | c.6995C>G (p.Thr2332Ser) c.8324C>G (p.Thr2775Ser) c.6527C>G (p.Thr2176Ser) | ClinVar |
| 6 | g.7585586C>T | CA362694916 | DSP | c.6995C>T (p.Thr2332Ile) c.8324C>T (p.Thr2775Ile) c.6527C>T (p.Thr2176Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585587C>A | CA448716917 | DSP | c.6996C>A (p.Thr2332=) c.8325C>A (p.Thr2775=) c.6528C>A (p.Thr2176=) | |
| 6 | g.7585587C>G | CA448716919 | DSP | c.6996C>G (p.Thr2332=) c.8325C>G (p.Thr2775=) c.6528C>G (p.Thr2176=) | ClinVar dbSNP |
| 6 | g.7585587C>T | CA448716921 | DSP | c.6996C>T (p.Thr2332=) c.8325C>T (p.Thr2775=) c.6528C>T (p.Thr2176=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585588T>A | CA362694919 | DSP | c.6997T>A (p.Cys2333Ser) c.8326T>A (p.Cys2776Ser) c.6529T>A (p.Cys2177Ser) | |
| 6 | g.7585588T>C | CA362694920 | DSP | c.6997T>C (p.Cys2333Arg) c.8326T>C (p.Cys2776Arg) c.6529T>C (p.Cys2177Arg) | dbSNP gnomAD v2 |
| 6 | g.7585588T>G | CA362694921 | DSP | c.6997T>G (p.Cys2333Gly) c.8326T>G (p.Cys2776Gly) c.6529T>G (p.Cys2177Gly) | |
| 6 | g.7585588T= | CA1608615003 | DSP | c.6997T= (p.Cys2333=) c.8326T= (p.Cys2776=) c.6529T= (p.Cys2177=) | |
| 6 | g.7585589G>A | CA362694922 | DSP | c.6998G>A (p.Cys2333Tyr) c.8327G>A (p.Cys2776Tyr) c.6530G>A (p.Cys2177Tyr) | |
| 6 | g.7585589G>C | CA362694923 | DSP | c.6998G>C (p.Cys2333Ser) c.8327G>C (p.Cys2776Ser) c.6530G>C (p.Cys2177Ser) | |
| 6 | g.7585589G>T | CA362694924 | DSP | c.6998G>T (p.Cys2333Phe) c.8327G>T (p.Cys2776Phe) c.6530G>T (p.Cys2177Phe) | |
| 6 | g.7585590C>A | CA362694925 | DSP | c.6999C>A (p.Cys2333Ter) c.8328C>A (p.Cys2776Ter) c.6531C>A (p.Cys2177Ter) | |
| 6 | g.7585590C>G | CA362694926 | DSP | c.6999C>G (p.Cys2333Trp) c.8328C>G (p.Cys2776Trp) c.6531C>G (p.Cys2177Trp) | |
| 6 | g.7585590C>T | CA448716925 | DSP | c.6999C>T (p.Cys2333=) c.8328C>T (p.Cys2776=) c.6531C>T (p.Cys2177=) | |
| 6 | g.7585591C>A | CA362694927 | DSP | c.7000C>A (p.Pro2334Thr) c.8329C>A (p.Pro2777Thr) c.6532C>A (p.Pro2178Thr) | |
| 6 | g.7585591C>G | CA362694928 | DSP | c.7000C>G (p.Pro2334Ala) c.8329C>G (p.Pro2777Ala) c.6532C>G (p.Pro2178Ala) | |
| 6 | g.7585591C>T | CA362694929 | DSP | c.7000C>T (p.Pro2334Ser) c.8329C>T (p.Pro2777Ser) c.6532C>T (p.Pro2178Ser) | |
| 6 | g.7585592C>A | CA007474 | DSP | c.7001C>A (p.Pro2334His) c.8330C>A (p.Pro2777His) c.6533C>A (p.Pro2178His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585592C= | CA1608615008 | DSP | c.7001C= (p.Pro2334=) c.8330C= (p.Pro2777=) c.6533C= (p.Pro2178=) | |
| 6 | g.7585592C>G | CA362694931 | DSP | c.7001C>G (p.Pro2334Arg) c.8330C>G (p.Pro2777Arg) c.6533C>G (p.Pro2178Arg) | |
| 6 | g.7585592C>T | CA362694930 | DSP | c.7001C>T (p.Pro2334Leu) c.8330C>T (p.Pro2777Leu) c.6533C>T (p.Pro2178Leu) | ClinVar |
| 6 | g.7585593C>A | CA448716931 | DSP | c.7002C>A (p.Pro2334=) c.8331C>A (p.Pro2777=) c.6534C>A (p.Pro2178=) | |
| 6 | g.7585593C>G | CA448716932 | DSP | c.7002C>G (p.Pro2334=) c.8331C>G (p.Pro2777=) c.6534C>G (p.Pro2178=) | |
| 6 | g.7585593C>T | CA448716933 | DSP | c.7002C>T (p.Pro2334=) c.8331C>T (p.Pro2777=) c.6534C>T (p.Pro2178=) | gnomAD v4 |
| 6 | g.7585593_7585594delinsCA | CA1608615020 | DSP | c.7002_7003delinsCA (p.Pro2334=) c.8331_8332delinsCA (p.Pro2777=) c.6534_6535delinsCA (p.Pro2178=) | |
| 6 | g.7585594A= | CA1608615035 | DSP | c.7003A= (p.Lys2335=) c.8332A= (p.Lys2778=) c.6535A= (p.Lys2179=) | |
| 6 | g.7585594A>C | CA362694932 | DSP | c.7003A>C (p.Lys2335Gln) c.8332A>C (p.Lys2778Gln) c.6535A>C (p.Lys2179Gln) | gnomAD v4 |
| 6 | g.7585594A>G | CA362694933 | DSP | c.7003A>G (p.Lys2335Glu) c.8332A>G (p.Lys2778Glu) c.6535A>G (p.Lys2179Glu) | |
| 6 | g.7585594A>T | CA133977768 | DSP | c.7003A>T (p.Lys2335Ter) c.8332A>T (p.Lys2778Ter) c.6535A>T (p.Lys2179Ter) | dbSNP |
| 6 | g.7585597del | CA1608615030 | DSP | c.7006del (p.Thr2336ProfsTer3) c.8335del (p.Thr2779ProfsTer3) c.6538del (p.Thr2180ProfsTer3) | dbSNP |
| 6 | g.7585595A>C | CA362694934 | DSP | c.7004A>C (p.Lys2335Thr) c.8333A>C (p.Lys2778Thr) c.6536A>C (p.Lys2179Thr) | |
| 6 | g.7585595A>G | CA362694935 | DSP | c.7004A>G (p.Lys2335Arg) c.8333A>G (p.Lys2778Arg) c.6536A>G (p.Lys2179Arg) | |
| 6 | g.7585595A>T | CA362694936 | DSP | c.7004A>T (p.Lys2335Ile) c.8333A>T (p.Lys2778Ile) c.6536A>T (p.Lys2179Ile) | |
| 6 | g.7585596A= | CA1608615038 | DSP | c.7005A= (p.Lys2335=) c.8334A= (p.Lys2778=) c.6537A= (p.Lys2179=) | |
| 6 | g.7585596A>C | CA362694938 | DSP | c.7005A>C (p.Lys2335Asn) c.8334A>C (p.Lys2778Asn) c.6537A>C (p.Lys2179Asn) | |
| 6 | g.7585596A>G | CA448716941 | DSP | c.7005A>G (p.Lys2335=) c.8334A>G (p.Lys2778=) c.6537A>G (p.Lys2179=) | dbSNP gnomAD v4 |
| 6 | g.7585596A>T | CA362694937 | DSP | c.7005A>T (p.Lys2335Asn) c.8334A>T (p.Lys2778Asn) c.6537A>T (p.Lys2179Asn) | |
| 6 | g.7585597A>C | CA362694939 | DSP | c.7006A>C (p.Thr2336Pro) c.8335A>C (p.Thr2779Pro) c.6538A>C (p.Thr2180Pro) | |
| 6 | g.7585597A>G | CA362694940 | DSP | c.7006A>G (p.Thr2336Ala) c.8335A>G (p.Thr2779Ala) c.6538A>G (p.Thr2180Ala) | |
| 6 | g.7585597A>T | CA362694941 | DSP | c.7006A>T (p.Thr2336Ser) c.8335A>T (p.Thr2779Ser) c.6538A>T (p.Thr2180Ser) | |
| 6 | g.7585598C>A | CA362694942 | DSP | c.7007C>A (p.Thr2336Asn) c.8336C>A (p.Thr2779Asn) c.6539C>A (p.Thr2180Asn) | |
| 6 | g.7585598C>G | CA362694943 | DSP | c.7007C>G (p.Thr2336Ser) c.8336C>G (p.Thr2779Ser) c.6539C>G (p.Thr2180Ser) | |
| 6 | g.7585598C>T | CA362694944 | DSP | c.7007C>T (p.Thr2336Ile) c.8336C>T (p.Thr2779Ile) c.6539C>T (p.Thr2180Ile) | |
| 6 | g.7585599C>A | CA448716946 | DSP | c.7008C>A (p.Thr2336=) c.8337C>A (p.Thr2779=) c.6540C>A (p.Thr2180=) | |
| 6 | g.7585599C>G | CA448716950 | DSP | c.7008C>G (p.Thr2336=) c.8337C>G (p.Thr2779=) c.6540C>G (p.Thr2180=) | |
| 6 | g.7585599C>T | CA448716951 | DSP | c.7008C>T (p.Thr2336=) c.8337C>T (p.Thr2779=) c.6540C>T (p.Thr2180=) | gnomAD v4 |
| 6 | g.7585600A>C | CA362694945 | DSP | c.7009A>C (p.Lys2337Gln) c.8338A>C (p.Lys2780Gln) c.6541A>C (p.Lys2181Gln) | |
| 6 | g.7585600A>G | CA362694947 | DSP | c.7009A>G (p.Lys2337Glu) c.8338A>G (p.Lys2780Glu) c.6541A>G (p.Lys2181Glu) | |
| 6 | g.7585600A>T | CA362694946 | DSP | c.7009A>T (p.Lys2337Ter) c.8338A>T (p.Lys2780Ter) c.6541A>T (p.Lys2181Ter) | |
| 6 | g.7585601A>C | CA362694948 | DSP | c.7010A>C (p.Lys2337Thr) c.8339A>C (p.Lys2780Thr) c.6542A>C (p.Lys2181Thr) | |
| 6 | g.7585601A>G | CA362694949 | DSP | c.7010A>G (p.Lys2337Arg) c.8339A>G (p.Lys2780Arg) c.6542A>G (p.Lys2181Arg) | |
| 6 | g.7585601A>T | CA362694950 | DSP | c.7010A>T (p.Lys2337Ile) c.8339A>T (p.Lys2780Ile) c.6542A>T (p.Lys2181Ile) | |
| 6 | g.7585602A>C | CA362694951 | DSP | c.7011A>C (p.Lys2337Asn) c.8340A>C (p.Lys2780Asn) c.6543A>C (p.Lys2181Asn) | |
| 6 | g.7585602A>G | CA448716956 | DSP | c.7011A>G (p.Lys2337=) c.8340A>G (p.Lys2780=) c.6543A>G (p.Lys2181=) | |
| 6 | g.7585602A>T | CA362694952 | DSP | c.7011A>T (p.Lys2337Asn) c.8340A>T (p.Lys2780Asn) c.6543A>T (p.Lys2181Asn) | |
| 6 | g.7585603T>A | CA362694953 | DSP | c.7012T>A (p.Leu2338Ile) c.8341T>A (p.Leu2781Ile) c.6544T>A (p.Leu2182Ile) | |
| 6 | g.7585603T>C | CA448716958 | DSP | c.7012T>C (p.Leu2338=) c.8341T>C (p.Leu2781=) c.6544T>C (p.Leu2182=) | |
| 6 | g.7585603T>G | CA362694954 | DSP | c.7012T>G (p.Leu2338Val) c.8341T>G (p.Leu2781Val) c.6544T>G (p.Leu2182Val) | |
| 6 | g.7585604del | CA645552063 | DSP | c.7013del (p.Leu2338Ter) c.8342del (p.Leu2781Ter) c.6545del (p.Leu2182Ter) | COSMIC |
| 6 | g.7585604T>A | CA133977785 | DSP | c.7013T>A (p.Leu2338Ter) c.8342T>A (p.Leu2781Ter) c.6545T>A (p.Leu2182Ter) | dbSNP |
| 6 | g.7585604T>C | CA362694955 | DSP | c.7013T>C (p.Leu2338Ser) c.8342T>C (p.Leu2781Ser) c.6545T>C (p.Leu2182Ser) | ClinVar gnomAD v4 |
| 6 | g.7585604T>G | CA362694956 | DSP | c.7013T>G (p.Leu2338Ter) c.8342T>G (p.Leu2781Ter) c.6545T>G (p.Leu2182Ter) | |
| 6 | g.7585604T= | CA1608615041 | DSP | c.7013T= (p.Leu2338=) c.8342T= (p.Leu2781=) c.6545T= (p.Leu2182=) | |
| 6 | g.7585605A= | CA1608615045 | DSP | c.7014A= (p.Leu2338=) c.8343A= (p.Leu2781=) c.6546A= (p.Leu2182=) | |
| 6 | g.7585605A>C | CA362694957 | DSP | c.7014A>C (p.Leu2338Phe) c.8343A>C (p.Leu2781Phe) c.6546A>C (p.Leu2182Phe) | |
| 6 | g.7585605A>G | CA448716960 | DSP | c.7014A>G (p.Leu2338=) c.8343A>G (p.Leu2781=) c.6546A>G (p.Leu2182=) | gnomAD v4 |
| 6 | g.7585605A>T | CA052088 | DSP | c.7014A>T (p.Leu2338Phe) c.8343A>T (p.Leu2781Phe) c.6546A>T (p.Leu2182Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585606A>C | CA362694959 | DSP | c.7015A>C (p.Lys2339Gln) c.8344A>C (p.Lys2782Gln) c.6547A>C (p.Lys2183Gln) | gnomAD v4 |
| 6 | g.7585606A>G | CA362694960 | DSP | c.7015A>G (p.Lys2339Glu) c.8344A>G (p.Lys2782Glu) c.6547A>G (p.Lys2183Glu) | |
| 6 | g.7585606A>T | CA362694958 | DSP | c.7015A>T (p.Lys2339Ter) c.8344A>T (p.Lys2782Ter) c.6547A>T (p.Lys2183Ter) | |
| 6 | g.7585607A>C | CA362694961 | DSP | c.7016A>C (p.Lys2339Thr) c.8345A>C (p.Lys2782Thr) c.6548A>C (p.Lys2183Thr) | |
| 6 | g.7585607A>G | CA362694963 | DSP | c.7016A>G (p.Lys2339Arg) c.8345A>G (p.Lys2782Arg) c.6548A>G (p.Lys2183Arg) | |
| 6 | g.7585607A>T | CA362694962 | DSP | c.7016A>T (p.Lys2339Ile) c.8345A>T (p.Lys2782Ile) c.6548A>T (p.Lys2183Ile) | |
| 6 | g.7585607_7585608insCACACCCAACAC | CA2769904120 | DSP | c.7016_7017insCACACCCAACAC (p.Lys2339delinsAsnThrProAsnThr) c.8345_8346insCACACCCAACAC (p.Lys2782delinsAsnThrProAsnThr) c.6548_6549insCACACCCAACAC (p.Lys2183delinsAsnThrProAsnThr) | |
| 6 | g.7585608A>C | CA362694964 | DSP | c.7017A>C (p.Lys2339Asn) c.8346A>C (p.Lys2782Asn) c.6549A>C (p.Lys2183Asn) | |
| 6 | g.7585608A>G | CA448716962 | DSP | c.7017A>G (p.Lys2339=) c.8346A>G (p.Lys2782=) c.6549A>G (p.Lys2183=) | |
| 6 | g.7585608A>T | CA362694965 | DSP | c.7017A>T (p.Lys2339Asn) c.8346A>T (p.Lys2782Asn) c.6549A>T (p.Lys2183Asn) | ClinVar |
| 6 | g.7585609A= | CA1608615049 | DSP | c.7018A= (p.Ile2340=) c.8347A= (p.Ile2783=) c.6550A= (p.Ile2184=) | |
| 6 | g.7585609A>C | CA362694966 | DSP | c.7018A>C (p.Ile2340Leu) c.8347A>C (p.Ile2783Leu) c.6550A>C (p.Ile2184Leu) | |
| 6 | g.7585609A>G | CA007483 | DSP | c.7018A>G (p.Ile2340Val) c.8347A>G (p.Ile2783Val) c.6550A>G (p.Ile2184Val) | ClinVar dbSNP |
| 6 | g.7585609A>T | CA362694967 | DSP | c.7018A>T (p.Ile2340Leu) c.8347A>T (p.Ile2783Leu) c.6550A>T (p.Ile2184Leu) | |
| 6 | g.7585610T>A | CA362694968 | DSP | c.7019T>A (p.Ile2340Lys) c.8348T>A (p.Ile2783Lys) c.6551T>A (p.Ile2184Lys) | |
| 6 | g.7585610T>C | CA362694969 | DSP | c.7019T>C (p.Ile2340Thr) c.8348T>C (p.Ile2783Thr) c.6551T>C (p.Ile2184Thr) | dbSNP |
| 6 | g.7585610T>G | CA362694970 | DSP | c.7019T>G (p.Ile2340Arg) c.8348T>G (p.Ile2783Arg) c.6551T>G (p.Ile2184Arg) | |
| 6 | g.7585611A>C | CA448716970 | DSP | c.7020A>C (p.Ile2340=) c.8349A>C (p.Ile2783=) c.6552A>C (p.Ile2184=) | |
| 6 | g.7585611A>G | CA362694971 | DSP | c.7020A>G (p.Ile2340Met) c.8349A>G (p.Ile2783Met) c.6552A>G (p.Ile2184Met) | |
| 6 | g.7585611A>T | CA448716973 | DSP | c.7020A>T (p.Ile2340=) c.8349A>T (p.Ile2783=) c.6552A>T (p.Ile2184=) | |
| 6 | g.7585612T>A | CA362694972 | DSP | c.7021T>A (p.Ser2341Thr) c.8350T>A (p.Ser2784Thr) c.6553T>A (p.Ser2185Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585612T>C | CA362694973 | DSP | c.7021T>C (p.Ser2341Pro) c.8350T>C (p.Ser2784Pro) c.6553T>C (p.Ser2185Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585612T>G | CA362694974 | DSP | c.7021T>G (p.Ser2341Ala) c.8350T>G (p.Ser2784Ala) c.6553T>G (p.Ser2185Ala) | |
| 6 | g.7585612T= | CA1608615054 | DSP | c.7021T= (p.Ser2341=) c.8350T= (p.Ser2784=) c.6553T= (p.Ser2185=) | |
| 6 | g.7585613C>A | CA362694975 | DSP | c.7022C>A (p.Ser2341Tyr) c.8351C>A (p.Ser2784Tyr) c.6554C>A (p.Ser2185Tyr) | |
| 6 | g.7585613C= | CA1608615058 | DSP | c.7022C= (p.Ser2341=) c.8351C= (p.Ser2784=) c.6554C= (p.Ser2185=) | |
| 6 | g.7585613C>G | CA362694976 | DSP | c.7022C>G (p.Ser2341Cys) c.8351C>G (p.Ser2784Cys) c.6554C>G (p.Ser2185Cys) | |
| 6 | g.7585613C>T | CA362694977 | DSP | c.7022C>T (p.Ser2341Phe) c.8351C>T (p.Ser2784Phe) c.6554C>T (p.Ser2185Phe) | dbSNP gnomAD v4 |
| 6 | g.7585614C>A | CA448717096 | DSP | c.7023C>A (p.Ser2341=) c.8352C>A (p.Ser2784=) c.6555C>A (p.Ser2185=) | |
| 6 | g.7585614C>G | CA448717097 | DSP | c.7023C>G (p.Ser2341=) c.8352C>G (p.Ser2784=) c.6555C>G (p.Ser2185=) | ClinVar |
| 6 | g.7585614C>T | CA448717098 | DSP | c.7023C>T (p.Ser2341=) c.8352C>T (p.Ser2784=) c.6555C>T (p.Ser2185=) | |
| 6 | g.7585615T>A | CA362694978 | DSP | c.7024T>A (p.Tyr2342Asn) c.8353T>A (p.Tyr2785Asn) c.6556T>A (p.Tyr2186Asn) | |
| 6 | g.7585615T>C | CA362694980 | DSP | c.7024T>C (p.Tyr2342His) c.8353T>C (p.Tyr2785His) c.6556T>C (p.Tyr2186His) | |
| 6 | g.7585615T>G | CA362694979 | DSP | c.7024T>G (p.Tyr2342Asp) c.8353T>G (p.Tyr2785Asp) c.6556T>G (p.Tyr2186Asp) | |
| 6 | g.7585616A= | CA1608615064 | DSP | c.7025A= (p.Tyr2342=) c.8354A= (p.Tyr2785=) c.6557A= (p.Tyr2186=) | |
| 6 | g.7585616A>C | CA362694981 | DSP | c.7025A>C (p.Tyr2342Ser) c.8354A>C (p.Tyr2785Ser) c.6557A>C (p.Tyr2186Ser) | |
| 6 | g.7585616A>G | CA052095 | DSP | c.7025A>G (p.Tyr2342Cys) c.8354A>G (p.Tyr2785Cys) c.6557A>G (p.Tyr2186Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585616A>T | CA362694982 | DSP | c.7025A>T (p.Tyr2342Phe) c.8354A>T (p.Tyr2785Phe) c.6557A>T (p.Tyr2186Phe) | |
| 6 | g.7585617T>A | CA362694983 | DSP | c.7026T>A (p.Tyr2342Ter) c.8355T>A (p.Tyr2785Ter) c.6558T>A (p.Tyr2186Ter) | |
| 6 | g.7585617T>C | CA448717105 | DSP | c.7026T>C (p.Tyr2342=) c.8355T>C (p.Tyr2785=) c.6558T>C (p.Tyr2186=) | |
| 6 | g.7585617T>G | CA362694984 | DSP | c.7026T>G (p.Tyr2342Ter) c.8355T>G (p.Tyr2785Ter) c.6558T>G (p.Tyr2186Ter) | |
| 6 | g.7585618A= | CA1608615070 | DSP | c.7027A= (p.Lys2343=) c.8356A= (p.Lys2786=) c.6559A= (p.Lys2187=) | |
| 6 | g.7585618A>C | CA362694985 | DSP | c.7027A>C (p.Lys2343Gln) c.8356A>C (p.Lys2786Gln) c.6559A>C (p.Lys2187Gln) | |
| 6 | g.7585618A>G | CA362694986 | DSP | c.7027A>G (p.Lys2343Glu) c.8356A>G (p.Lys2786Glu) c.6559A>G (p.Lys2187Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585618A>T | CA362694987 | DSP | c.7027A>T (p.Lys2343Ter) c.8356A>T (p.Lys2786Ter) c.6559A>T (p.Lys2187Ter) | |
| 6 | g.7585619A= | CA1608615073 | DSP | c.7028A= (p.Lys2343=) c.8357A= (p.Lys2786=) c.6560A= (p.Lys2187=) | |
| 6 | g.7585619A>C | CA362694988 | DSP | c.7028A>C (p.Lys2343Thr) c.8357A>C (p.Lys2786Thr) c.6560A>C (p.Lys2187Thr) | |
| 6 | g.7585619A>G | CA362694989 | DSP | c.7028A>G (p.Lys2343Arg) c.8357A>G (p.Lys2786Arg) c.6560A>G (p.Lys2187Arg) | |
| 6 | g.7585619A>T | CA007494 | DSP | c.7028A>T (p.Lys2343Met) c.8357A>T (p.Lys2786Met) c.6560A>T (p.Lys2187Met) | ClinVar dbSNP |
| 6 | g.7585620G>A | CA448717110 | DSP | c.7029G>A (p.Lys2343=) c.8358G>A (p.Lys2786=) c.6561G>A (p.Lys2187=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7585620G>C | CA362694990 | DSP | c.7029G>C (p.Lys2343Asn) c.8358G>C (p.Lys2786Asn) c.6561G>C (p.Lys2187Asn) | |
| 6 | g.7585620G= | CA1608615078 | DSP | c.7029G= (p.Lys2343=) c.8358G= (p.Lys2786=) c.6561G= (p.Lys2187=) | |
| 6 | g.7585620G>T | CA362694991 | DSP | c.7029G>T (p.Lys2343Asn) c.8358G>T (p.Lys2786Asn) c.6561G>T (p.Lys2187Asn) | |
| 6 | g.7585621G>A | CA362694992 | DSP | c.7030G>A (p.Asp2344Asn) c.8359G>A (p.Asp2787Asn) c.6562G>A (p.Asp2188Asn) | dbSNP gnomAD v4 |
| 6 | g.7585621G>C | CA362694993 | DSP | c.7030G>C (p.Asp2344His) c.8359G>C (p.Asp2787His) c.6562G>C (p.Asp2188His) | |
| 6 | g.7585621G= | CA1608615082 | DSP | c.7030G= (p.Asp2344=) c.8359G= (p.Asp2787=) c.6562G= (p.Asp2188=) | |
| 6 | g.7585621G>T | CA362694994 | DSP | c.7030G>T (p.Asp2344Tyr) c.8359G>T (p.Asp2787Tyr) c.6562G>T (p.Asp2188Tyr) | gnomAD v4 COSMIC |
| 6 | g.7585622A= | CA1608615086 | DSP | c.7031A= (p.Asp2344=) c.8360A= (p.Asp2787=) c.6563A= (p.Asp2188=) | |
| 6 | g.7585622A>C | CA362694995 | DSP | c.7031A>C (p.Asp2344Ala) c.8360A>C (p.Asp2787Ala) c.6563A>C (p.Asp2188Ala) | |
| 6 | g.7585622A>G | CA362694996 | DSP | c.7031A>G (p.Asp2344Gly) c.8360A>G (p.Asp2787Gly) c.6563A>G (p.Asp2188Gly) | |
| 6 | g.7585622A>T | CA362694997 | DSP | c.7031A>T (p.Asp2344Val) c.8360A>T (p.Asp2787Val) c.6563A>T (p.Asp2188Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585623T>A | CA362694998 | DSP | c.7032T>A (p.Asp2344Glu) c.8361T>A (p.Asp2787Glu) c.6564T>A (p.Asp2188Glu) | |
| 6 | g.7585623T>C | CA448717113 | DSP | c.7032T>C (p.Asp2344=) c.8361T>C (p.Asp2787=) c.6564T>C (p.Asp2188=) | gnomAD v4 |
| 6 | g.7585623T>G | CA362694999 | DSP | c.7032T>G (p.Asp2344Glu) c.8361T>G (p.Asp2787Glu) c.6564T>G (p.Asp2188Glu) | |
| 6 | g.7585624G>A | CA362695000 | DSP | c.7033G>A (p.Ala2345Thr) c.8362G>A (p.Ala2788Thr) c.6565G>A (p.Ala2189Thr) | |
| 6 | g.7585624G>C | CA362695001 | DSP | c.7033G>C (p.Ala2345Pro) c.8362G>C (p.Ala2788Pro) c.6565G>C (p.Ala2189Pro) | |
| 6 | g.7585624G>T | CA362695002 | DSP | c.7033G>T (p.Ala2345Ser) c.8362G>T (p.Ala2788Ser) c.6565G>T (p.Ala2189Ser) | |
| 6 | g.7585625C>A | CA362695003 | DSP | c.7034C>A (p.Ala2345Asp) c.8363C>A (p.Ala2788Asp) c.6566C>A (p.Ala2189Asp) | |
| 6 | g.7585625C= | CA1608615090 | DSP | c.7034C= (p.Ala2345=) c.8363C= (p.Ala2788=) c.6566C= (p.Ala2189=) | |
| 6 | g.7585625C>G | CA362695004 | DSP | c.7034C>G (p.Ala2345Gly) c.8363C>G (p.Ala2788Gly) c.6566C>G (p.Ala2189Gly) | |
| 6 | g.7585625C>T | CA052109 | DSP | c.7034C>T (p.Ala2345Val) c.8363C>T (p.Ala2788Val) c.6566C>T (p.Ala2189Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585626C>A | CA448717120 | DSP | c.7035C>A (p.Ala2345=) c.8364C>A (p.Ala2788=) c.6567C>A (p.Ala2189=) | |
| 6 | g.7585626C= | CA1608615097 | DSP | c.7035C= (p.Ala2345=) c.8364C= (p.Ala2788=) c.6567C= (p.Ala2189=) | |
| 6 | g.7585626C>G | CA448717121 | DSP | c.7035C>G (p.Ala2345=) c.8364C>G (p.Ala2788=) c.6567C>G (p.Ala2189=) | dbSNP |
| 6 | g.7585626C>T | CA052119 | DSP | c.7035C>T (p.Ala2345=) c.8364C>T (p.Ala2788=) c.6567C>T (p.Ala2189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585627A= | CA1608615104 | DSP | c.7036A= (p.Ile2346=) c.8365A= (p.Ile2789=) c.6568A= (p.Ile2190=) | |
| 6 | g.7585627A>C | CA362695005 | DSP | c.7036A>C (p.Ile2346Leu) c.8365A>C (p.Ile2789Leu) c.6568A>C (p.Ile2190Leu) | |
| 6 | g.7585627A>G | CA007505 | DSP | c.7036A>G (p.Ile2346Val) c.8365A>G (p.Ile2789Val) c.6568A>G (p.Ile2190Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585627A>T | CA362695006 | DSP | c.7036A>T (p.Ile2346Leu) c.8365A>T (p.Ile2789Leu) c.6568A>T (p.Ile2190Leu) | |
| 6 | g.7585628T>A | CA362695007 | DSP | c.7037T>A (p.Ile2346Lys) c.8366T>A (p.Ile2789Lys) c.6569T>A (p.Ile2190Lys) | |
| 6 | g.7585628T>C | CA362695008 | DSP | c.7037T>C (p.Ile2346Thr) c.8366T>C (p.Ile2789Thr) c.6569T>C (p.Ile2190Thr) | |
| 6 | g.7585628T>G | CA362695009 | DSP | c.7037T>G (p.Ile2346Arg) c.8366T>G (p.Ile2789Arg) c.6569T>G (p.Ile2190Arg) | |
| 6 | g.7585629A>C | CA448717123 | DSP | c.7038A>C (p.Ile2346=) c.8367A>C (p.Ile2789=) c.6570A>C (p.Ile2190=) | |
| 6 | g.7585629A>G | CA362695010 | DSP | c.7038A>G (p.Ile2346Met) c.8367A>G (p.Ile2789Met) c.6570A>G (p.Ile2190Met) | |
| 6 | g.7585629A>T | CA448717124 | DSP | c.7038A>T (p.Ile2346=) c.8367A>T (p.Ile2789=) c.6570A>T (p.Ile2190=) | |
| 6 | g.7585630A>C | CA362695011 | DSP | c.7039A>C (p.Asn2347His) c.8368A>C (p.Asn2790His) c.6571A>C (p.Asn2191His) | |
| 6 | g.7585630A>G | CA362695012 | DSP | c.7039A>G (p.Asn2347Asp) c.8368A>G (p.Asn2790Asp) c.6571A>G (p.Asn2191Asp) | |
| 6 | g.7585630A>T | CA362695013 | DSP | c.7039A>T (p.Asn2347Tyr) c.8368A>T (p.Asn2790Tyr) c.6571A>T (p.Asn2191Tyr) | |
| 6 | g.7585631A= | CA1608615111 | DSP | c.7040A= (p.Asn2347=) c.8369A= (p.Asn2790=) c.6572A= (p.Asn2191=) | |
| 6 | g.7585631A>C | CA362695014 | DSP | c.7040A>C (p.Asn2347Thr) c.8369A>C (p.Asn2790Thr) c.6572A>C (p.Asn2191Thr) | |
| 6 | g.7585631A>G | CA052132 | DSP | c.7040A>G (p.Asn2347Ser) c.8369A>G (p.Asn2790Ser) c.6572A>G (p.Asn2191Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585631A>T | CA362695015 | DSP | c.7040A>T (p.Asn2347Ile) c.8369A>T (p.Asn2790Ile) c.6572A>T (p.Asn2191Ile) | |
| 6 | g.7585632T>A | CA362695017 | DSP | c.7041T>A (p.Asn2347Lys) c.8370T>A (p.Asn2790Lys) c.6573T>A (p.Asn2191Lys) | |
| 6 | g.7585632T>C | CA448717125 | DSP | c.7041T>C (p.Asn2347=) c.8370T>C (p.Asn2790=) c.6573T>C (p.Asn2191=) | |
| 6 | g.7585632T>G | CA362695016 | DSP | c.7041T>G (p.Asn2347Lys) c.8370T>G (p.Asn2790Lys) c.6573T>G (p.Asn2191Lys) | |
| 6 | g.7585633C>A | CA362695018 | DSP | c.7042C>A (p.Arg2348Ser) c.8371C>A (p.Arg2791Ser) c.6574C>A (p.Arg2192Ser) | |
| 6 | g.7585633C= | CA1608615118 | DSP | c.7042C= (p.Arg2348=) c.8371C= (p.Arg2791=) c.6574C= (p.Arg2192=) | |
| 6 | g.7585633C>G | CA362695019 | DSP | c.7042C>G (p.Arg2348Gly) c.8371C>G (p.Arg2791Gly) c.6574C>G (p.Arg2192Gly) | ClinVar dbSNP |
| 6 | g.7585633C>T | CA133977876 | DSP | c.7042C>T (p.Arg2348Cys) c.8371C>T (p.Arg2791Cys) c.6574C>T (p.Arg2192Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7585634G>A | CA052149 | DSP | c.7043G>A (p.Arg2348His) c.8372G>A (p.Arg2791His) c.6575G>A (p.Arg2192His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585634G>C | CA362695020 | DSP | c.7043G>C (p.Arg2348Pro) c.8372G>C (p.Arg2791Pro) c.6575G>C (p.Arg2192Pro) | |
| 6 | g.7585634G= | CA1608615124 | DSP | c.7043G= (p.Arg2348=) c.8372G= (p.Arg2791=) c.6575G= (p.Arg2192=) | |
| 6 | g.7585634G>T | CA362695021 | DSP | c.7043G>T (p.Arg2348Leu) c.8372G>T (p.Arg2791Leu) c.6575G>T (p.Arg2192Leu) | |
| 6 | g.7585635C>A | CA448717129 | DSP | c.7044C>A (p.Arg2348=) c.8373C>A (p.Arg2791=) c.6576C>A (p.Arg2192=) | |
| 6 | g.7585635C= | CA1608615136 | DSP | c.7044C= (p.Arg2348=) c.8373C= (p.Arg2791=) c.6576C= (p.Arg2192=) | |
| 6 | g.7585635C>G | CA448717130 | DSP | c.7044C>G (p.Arg2348=) c.8373C>G (p.Arg2791=) c.6576C>G (p.Arg2192=) | gnomAD v4 |
| 6 | g.7585635C>T | CA448717131 | DSP | c.7044C>T (p.Arg2348=) c.8373C>T (p.Arg2791=) c.6576C>T (p.Arg2192=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585636T>A | CA007514 | DSP | c.7045T>A (p.Ser2349Thr) c.8374T>A (p.Ser2792Thr) c.6577T>A (p.Ser2193Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585636T>C | CA362695023 | DSP | c.7045T>C (p.Ser2349Pro) c.8374T>C (p.Ser2792Pro) c.6577T>C (p.Ser2193Pro) | |
| 6 | g.7585636T>G | CA362695022 | DSP | c.7045T>G (p.Ser2349Ala) c.8374T>G (p.Ser2792Ala) c.6577T>G (p.Ser2193Ala) | dbSNP |
| 6 | g.7585636T= | CA1608615142 | DSP | c.7045T= (p.Ser2349=) c.8374T= (p.Ser2792=) c.6577T= (p.Ser2193=) | |
| 6 | g.7585637C>A | CA362695024 | DSP | c.7046C>A (p.Ser2349Tyr) c.8375C>A (p.Ser2792Tyr) c.6578C>A (p.Ser2193Tyr) | |
| 6 | g.7585637C>G | CA362695025 | DSP | c.7046C>G (p.Ser2349Cys) c.8375C>G (p.Ser2792Cys) c.6578C>G (p.Ser2193Cys) | |
| 6 | g.7585637C>T | CA362695026 | DSP | c.7046C>T (p.Ser2349Phe) c.8375C>T (p.Ser2792Phe) c.6578C>T (p.Ser2193Phe) | gnomAD v4 |
| 6 | g.7585638C>A | CA448717132 | DSP | c.7047C>A (p.Ser2349=) c.8376C>A (p.Ser2792=) c.6579C>A (p.Ser2193=) | |
| 6 | g.7585638C= | CA1608615151 | DSP | c.7047C= (p.Ser2349=) c.8376C= (p.Ser2792=) c.6579C= (p.Ser2193=) | |
| 6 | g.7585638C>G | CA448717133 | DSP | c.7047C>G (p.Ser2349=) c.8376C>G (p.Ser2792=) c.6579C>G (p.Ser2193=) | |
| 6 | g.7585638C>T | CA448717134 | DSP | c.7047C>T (p.Ser2349=) c.8376C>T (p.Ser2792=) c.6579C>T (p.Ser2193=) | dbSNP |
| 6 | g.7585639A>C | CA362695027 | DSP | c.7048A>C (p.Met2350Leu) c.8377A>C (p.Met2793Leu) c.6580A>C (p.Met2194Leu) | |
| 6 | g.7585639A>G | CA362695028 | DSP | c.7048A>G (p.Met2350Val) c.8377A>G (p.Met2793Val) c.6580A>G (p.Met2194Val) | dbSNP gnomAD v4 |
| 6 | g.7585639A>T | CA362695029 | DSP | c.7048A>T (p.Met2350Leu) c.8377A>T (p.Met2793Leu) c.6580A>T (p.Met2194Leu) | |
| 6 | g.7585640T>A | CA362695030 | DSP | c.7049T>A (p.Met2350Lys) c.8378T>A (p.Met2793Lys) c.6581T>A (p.Met2194Lys) | |
| 6 | g.7585640T>C | CA362695032 | DSP | c.7049T>C (p.Met2350Thr) c.8378T>C (p.Met2793Thr) c.6581T>C (p.Met2194Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585640T>G | CA362695031 | DSP | c.7049T>G (p.Met2350Arg) c.8378T>G (p.Met2793Arg) c.6581T>G (p.Met2194Arg) | |
| 6 | g.7585640T= | CA1608615155 | DSP | c.7049T= (p.Met2350=) c.8378T= (p.Met2793=) c.6581T= (p.Met2194=) | |
| 6 | g.7585641G>A | CA362695033 | DSP | c.7050G>A (p.Met2350Ile) c.8379G>A (p.Met2793Ile) c.6582G>A (p.Met2194Ile) | ClinVar |
| 6 | g.7585641G>C | CA362695034 | DSP | c.7050G>C (p.Met2350Ile) c.8379G>C (p.Met2793Ile) c.6582G>C (p.Met2194Ile) | |
| 6 | g.7585641G>T | CA362695035 | DSP | c.7050G>T (p.Met2350Ile) c.8379G>T (p.Met2793Ile) c.6582G>T (p.Met2194Ile) | |
| 6 | g.7585642G>A | CA362695036 | DSP | c.7051G>A (p.Val2351Ile) c.8380G>A (p.Val2794Ile) c.6583G>A (p.Val2195Ile) | |
| 6 | g.7585642G>C | CA362695037 | DSP | c.7051G>C (p.Val2351Leu) c.8380G>C (p.Val2794Leu) c.6583G>C (p.Val2195Leu) | |
| 6 | g.7585642G>T | CA362695038 | DSP | c.7051G>T (p.Val2351Leu) c.8380G>T (p.Val2794Leu) c.6583G>T (p.Val2195Leu) | |
| 6 | g.7585643T>A | CA362695039 | DSP | c.7052T>A (p.Val2351Glu) c.8381T>A (p.Val2794Glu) c.6584T>A (p.Val2195Glu) | |
| 6 | g.7585643T>C | CA362695040 | DSP | c.7052T>C (p.Val2351Ala) c.8381T>C (p.Val2794Ala) c.6584T>C (p.Val2195Ala) | |
| 6 | g.7585643T>G | CA362695041 | DSP | c.7052T>G (p.Val2351Gly) c.8381T>G (p.Val2794Gly) c.6584T>G (p.Val2195Gly) | |
| 6 | g.7585643_7585646dup | CA2695206020 | DSP | c.7052_7055dup (p.Glu2352AspfsTer?) c.8381_8384dup (p.Glu2795AspfsTer?) c.6584_6587dup (p.Glu2196AspfsTer?) | |
| 6 | g.7585644A= | CA1608615159 | DSP | c.7053A= (p.Val2351=) c.8382A= (p.Val2794=) c.6585A= (p.Val2195=) | |
| 6 | g.7585644A>C | CA448717137 | DSP | c.7053A>C (p.Val2351=) c.8382A>C (p.Val2794=) c.6585A>C (p.Val2195=) | |
| 6 | g.7585644A>G | CA133977889 | DSP | c.7053A>G (p.Val2351=) c.8382A>G (p.Val2794=) c.6585A>G (p.Val2195=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585644A>T | CA448717138 | DSP | c.7053A>T (p.Val2351=) c.8382A>T (p.Val2794=) c.6585A>T (p.Val2195=) | |
| 6 | g.7585645G>A | CA362695042 | DSP | c.7054G>A (p.Glu2352Lys) c.8383G>A (p.Glu2795Lys) c.6586G>A (p.Glu2196Lys) | |
| 6 | g.7585645G>C | CA362695043 | DSP | c.7054G>C (p.Glu2352Gln) c.8383G>C (p.Glu2795Gln) c.6586G>C (p.Glu2196Gln) | |
| 6 | g.7585645G>T | CA362695044 | DSP | c.7054G>T (p.Glu2352Ter) c.8383G>T (p.Glu2795Ter) c.6586G>T (p.Glu2196Ter) | |
| 6 | g.7585646A>C | CA362695047 | DSP | c.7055A>C (p.Glu2352Ala) c.8384A>C (p.Glu2795Ala) c.6587A>C (p.Glu2196Ala) | |
| 6 | g.7585646A>G | CA362695045 | DSP | c.7055A>G (p.Glu2352Gly) c.8384A>G (p.Glu2795Gly) c.6587A>G (p.Glu2196Gly) | |
| 6 | g.7585646A>T | CA362695046 | DSP | c.7055A>T (p.Glu2352Val) c.8384A>T (p.Glu2795Val) c.6587A>T (p.Glu2196Val) | |
| 6 | g.7585647A>C | CA362695048 | DSP | c.7056A>C (p.Glu2352Asp) c.8385A>C (p.Glu2795Asp) c.6588A>C (p.Glu2196Asp) | |
| 6 | g.7585647A>G | CA448717140 | DSP | c.7056A>G (p.Glu2352=) c.8385A>G (p.Glu2795=) c.6588A>G (p.Glu2196=) | |
| 6 | g.7585647A>T | CA362695049 | DSP | c.7056A>T (p.Glu2352Asp) c.8385A>T (p.Glu2795Asp) c.6588A>T (p.Glu2196Asp) | |
| 6 | g.7585648G>A | CA133977890 | DSP | c.7057G>A (p.Asp2353Asn) c.8386G>A (p.Asp2796Asn) c.6589G>A (p.Asp2197Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585648G>C | CA362695050 | DSP | c.7057G>C (p.Asp2353His) c.8386G>C (p.Asp2796His) c.6589G>C (p.Asp2197His) | ClinVar |
| 6 | g.7585648G= | CA1608615163 | DSP | c.7057G= (p.Asp2353=) c.8386G= (p.Asp2796=) c.6589G= (p.Asp2197=) | |
| 6 | g.7585648G>T | CA362695051 | DSP | c.7057G>T (p.Asp2353Tyr) c.8386G>T (p.Asp2796Tyr) c.6589G>T (p.Asp2197Tyr) | |
| 6 | g.7585649A= | CA1608615167 | DSP | c.7058A= (p.Asp2353=) c.8387A= (p.Asp2796=) c.6590A= (p.Asp2197=) | |
| 6 | g.7585649A>C | CA362695052 | DSP | c.7058A>C (p.Asp2353Ala) c.8387A>C (p.Asp2796Ala) c.6590A>C (p.Asp2197Ala) | |
| 6 | g.7585649A>G | CA362695053 | DSP | c.7058A>G (p.Asp2353Gly) c.8387A>G (p.Asp2796Gly) c.6590A>G (p.Asp2197Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585649A>T | CA133977902 | DSP | c.7058A>T (p.Asp2353Val) c.8387A>T (p.Asp2796Val) c.6590A>T (p.Asp2197Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585650T>A | CA362695054 | DSP | c.7059T>A (p.Asp2353Glu) c.8388T>A (p.Asp2796Glu) c.6591T>A (p.Asp2197Glu) | |
| 6 | g.7585650T>C | CA448717142 | DSP | c.7059T>C (p.Asp2353=) c.8388T>C (p.Asp2796=) c.6591T>C (p.Asp2197=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585650T>G | CA362695055 | DSP | c.7059T>G (p.Asp2353Glu) c.8388T>G (p.Asp2796Glu) c.6591T>G (p.Asp2197Glu) | |
| 6 | g.7585650T= | CA1608615173 | DSP | c.7059T= (p.Asp2353=) c.8388T= (p.Asp2796=) c.6591T= (p.Asp2197=) | |
| 6 | g.7585651A= | CA1608615180 | DSP | c.7060A= (p.Ile2354=) c.8389A= (p.Ile2797=) c.6592A= (p.Ile2198=) | |
| 6 | g.7585651A>C | CA362695056 | DSP | c.7060A>C (p.Ile2354Leu) c.8389A>C (p.Ile2797Leu) c.6592A>C (p.Ile2198Leu) | |
| 6 | g.7585651A>G | CA133977905 | DSP | c.7060A>G (p.Ile2354Val) c.8389A>G (p.Ile2797Val) c.6592A>G (p.Ile2198Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585651A>T | CA362695057 | DSP | c.7060A>T (p.Ile2354Phe) c.8389A>T (p.Ile2797Phe) c.6592A>T (p.Ile2198Phe) | |
| 6 | g.7585652del | CA2740094268 | DSP | c.7061del (p.Ile2354ThrfsTer?) c.8390del (p.Ile2797ThrfsTer?) c.6593del (p.Ile2198ThrfsTer?) | ClinVar |
| 6 | g.7585652T>A | CA362695059 | DSP | c.7061T>A (p.Ile2354Asn) c.8390T>A (p.Ile2797Asn) c.6593T>A (p.Ile2198Asn) | dbSNP gnomAD v4 |
| 6 | g.7585652T>C | CA052174 | DSP | c.7061T>C (p.Ile2354Thr) c.8390T>C (p.Ile2797Thr) c.6593T>C (p.Ile2198Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585652T>G | CA362695058 | DSP | c.7061T>G (p.Ile2354Ser) c.8390T>G (p.Ile2797Ser) c.6593T>G (p.Ile2198Ser) | |
| 6 | g.7585652T= | CA1608615197 | DSP | c.7061T= (p.Ile2354=) c.8390T= (p.Ile2797=) c.6593T= (p.Ile2198=) | |
| 6 | g.7585653C>A | CA052184 | DSP | c.7062C>A (p.Ile2354=) c.8391C>A (p.Ile2797=) c.6594C>A (p.Ile2198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585653C= | CA1608615200 | DSP | c.7062C= (p.Ile2354=) c.8391C= (p.Ile2797=) c.6594C= (p.Ile2198=) | |
| 6 | g.7585653C>G | CA362695060 | DSP | c.7062C>G (p.Ile2354Met) c.8391C>G (p.Ile2797Met) c.6594C>G (p.Ile2198Met) | |
| 6 | g.7585653C>T | CA133977937 | DSP | c.7062C>T (p.Ile2354=) c.8391C>T (p.Ile2797=) c.6594C>T (p.Ile2198=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585654A= | CA1608615204 | DSP | c.7063A= (p.Thr2355=) c.8392A= (p.Thr2798=) c.6595A= (p.Thr2199=) | |
| 6 | g.7585654A>C | CA362695061 | DSP | c.7063A>C (p.Thr2355Pro) c.8392A>C (p.Thr2798Pro) c.6595A>C (p.Thr2199Pro) | |
| 6 | g.7585654A>G | CA052200 | DSP | c.7063A>G (p.Thr2355Ala) c.8392A>G (p.Thr2798Ala) c.6595A>G (p.Thr2199Ala) | dbSNP ExAC gnomAD v2 |
| 6 | g.7585654A>T | CA133977951 | DSP | c.7063A>T (p.Thr2355Ser) c.8392A>T (p.Thr2798Ser) c.6595A>T (p.Thr2199Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585655C>A | CA362695062 | DSP | c.7064C>A (p.Thr2355Asn) c.8393C>A (p.Thr2798Asn) c.6596C>A (p.Thr2199Asn) | |
| 6 | g.7585655C>G | CA362695063 | DSP | c.7064C>G (p.Thr2355Ser) c.8393C>G (p.Thr2798Ser) c.6596C>G (p.Thr2199Ser) | |
| 6 | g.7585655C>T | CA362695064 | DSP | c.7064C>T (p.Thr2355Ile) c.8393C>T (p.Thr2798Ile) c.6596C>T (p.Thr2199Ile) | |
| 6 | g.7585656T>A | CA052210 | DSP | c.7065T>A (p.Thr2355=) c.8394T>A (p.Thr2798=) c.6597T>A (p.Thr2199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585656T>C | CA448717145 | DSP | c.7065T>C (p.Thr2355=) c.8394T>C (p.Thr2798=) c.6597T>C (p.Thr2199=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585656T>G | CA448717144 | DSP | c.7065T>G (p.Thr2355=) c.8394T>G (p.Thr2798=) c.6597T>G (p.Thr2199=) | |
| 6 | g.7585656T= | CA1608615210 | DSP | c.7065T= (p.Thr2355=) c.8394T= (p.Thr2798=) c.6597T= (p.Thr2199=) | |
| 6 | g.7585657G>A | CA362695065 | DSP | c.7066G>A (p.Gly2356Arg) c.8395G>A (p.Gly2799Arg) c.6598G>A (p.Gly2200Arg) | |
| 6 | g.7585657G>C | CA362695066 | DSP | c.7066G>C (p.Gly2356Arg) c.8395G>C (p.Gly2799Arg) c.6598G>C (p.Gly2200Arg) | |
| 6 | g.7585657G>T | CA362695067 | DSP | c.7066G>T (p.Gly2356Trp) c.8395G>T (p.Gly2799Trp) c.6598G>T (p.Gly2200Trp) | gnomAD v4 |
| 6 | g.7585658G>A | CA362695068 | DSP | c.7067G>A (p.Gly2356Glu) c.8396G>A (p.Gly2799Glu) c.6599G>A (p.Gly2200Glu) | |
| 6 | g.7585658G>C | CA362695070 | DSP | c.7067G>C (p.Gly2356Ala) c.8396G>C (p.Gly2799Ala) c.6599G>C (p.Gly2200Ala) | ClinVar |
| 6 | g.7585658G>T | CA362695069 | DSP | c.7067G>T (p.Gly2356Val) c.8396G>T (p.Gly2799Val) c.6599G>T (p.Gly2200Val) | |
| 6 | g.7585659G>A | CA448717146 | DSP | c.7068G>A (p.Gly2356=) c.8397G>A (p.Gly2799=) c.6600G>A (p.Gly2200=) | |
| 6 | g.7585659G>C | CA448717147 | DSP | c.7068G>C (p.Gly2356=) c.8397G>C (p.Gly2799=) c.6600G>C (p.Gly2200=) | |
| 6 | g.7585659G>T | CA448717148 | DSP | c.7068G>T (p.Gly2356=) c.8397G>T (p.Gly2799=) c.6600G>T (p.Gly2200=) | |
| 6 | g.7585660C>A | CA362695071 | DSP | c.7069C>A (p.Leu2357Met) c.8398C>A (p.Leu2800Met) c.6601C>A (p.Leu2201Met) | |
| 6 | g.7585660C>G | CA362695072 | DSP | c.7069C>G (p.Leu2357Val) c.8398C>G (p.Leu2800Val) c.6601C>G (p.Leu2201Val) | |
| 6 | g.7585660C>T | CA448717149 | DSP | c.7069C>T (p.Leu2357=) c.8398C>T (p.Leu2800=) c.6601C>T (p.Leu2201=) | |
| 6 | g.7585661T>A | CA362695073 | DSP | c.7070T>A (p.Leu2357Gln) c.8399T>A (p.Leu2800Gln) c.6602T>A (p.Leu2201Gln) | |
| 6 | g.7585661T>C | CA362695074 | DSP | c.7070T>C (p.Leu2357Pro) c.8399T>C (p.Leu2800Pro) c.6602T>C (p.Leu2201Pro) | |
| 6 | g.7585661T>G | CA362695075 | DSP | c.7070T>G (p.Leu2357Arg) c.8399T>G (p.Leu2800Arg) c.6602T>G (p.Leu2201Arg) | |
| 6 | g.7585662G>A | CA448717150 | DSP | c.7071G>A (p.Leu2357=) c.8400G>A (p.Leu2800=) c.6603G>A (p.Leu2201=) | |
| 6 | g.7585662G>C | CA448717151 | DSP | c.7071G>C (p.Leu2357=) c.8400G>C (p.Leu2800=) c.6603G>C (p.Leu2201=) | |
| 6 | g.7585662G>T | CA448717152 | DSP | c.7071G>T (p.Leu2357=) c.8400G>T (p.Leu2800=) c.6603G>T (p.Leu2201=) | |
| 6 | g.7585663C>A | CA362695076 | DSP | c.7072C>A (p.Arg2358Ser) c.8401C>A (p.Arg2801Ser) c.6604C>A (p.Arg2202Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585663C= | CA1608615216 | DSP | c.7072C= (p.Arg2358=) c.8401C= (p.Arg2801=) c.6604C= (p.Arg2202=) | |
| 6 | g.7585663C>G | CA052220 | DSP | c.7072C>G (p.Arg2358Gly) c.8401C>G (p.Arg2801Gly) c.6604C>G (p.Arg2202Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585663C>T | CA362695077 | DSP | c.7072C>T (p.Arg2358Cys) c.8401C>T (p.Arg2801Cys) c.6604C>T (p.Arg2202Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585664G>A | CA052230 | DSP | c.7073G>A (p.Arg2358His) c.8402G>A (p.Arg2801His) c.6605G>A (p.Arg2202His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585664G>C | CA362695078 | DSP | c.7073G>C (p.Arg2358Pro) c.8402G>C (p.Arg2801Pro) c.6605G>C (p.Arg2202Pro) | |
| 6 | g.7585664G= | CA1608615225 | DSP | c.7073G= (p.Arg2358=) c.8402G= (p.Arg2801=) c.6605G= (p.Arg2202=) | |
| 6 | g.7585664G>T | CA362695079 | DSP | c.7073G>T (p.Arg2358Leu) c.8402G>T (p.Arg2801Leu) c.6605G>T (p.Arg2202Leu) | gnomAD v4 |
| 6 | g.7585665C>A | CA448717156 | DSP | c.7074C>A (p.Arg2358=) c.8403C>A (p.Arg2801=) c.6606C>A (p.Arg2202=) | |
| 6 | g.7585665C>G | CA448717157 | DSP | c.7074C>G (p.Arg2358=) c.8403C>G (p.Arg2801=) c.6606C>G (p.Arg2202=) | ClinVar |
| 6 | g.7585665C>T | CA448717158 | DSP | c.7074C>T (p.Arg2358=) c.8403C>T (p.Arg2801=) c.6606C>T (p.Arg2202=) | |
| 6 | g.7585666C>A | CA133977960 | DSP | c.7075C>A (p.Leu2359Ile) c.8404C>A (p.Leu2802Ile) c.6607C>A (p.Leu2203Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585666C= | CA1608615234 | DSP | c.7075C= (p.Leu2359=) c.8404C= (p.Leu2802=) c.6607C= (p.Leu2203=) | |
| 6 | g.7585666C>G | CA362695080 | DSP | c.7075C>G (p.Leu2359Val) c.8404C>G (p.Leu2802Val) c.6607C>G (p.Leu2203Val) | |
| 6 | g.7585666C>T | CA052241 | DSP | c.7075C>T (p.Leu2359Phe) c.8404C>T (p.Leu2802Phe) c.6607C>T (p.Leu2203Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585667T>A | CA362695083 | DSP | c.7076T>A (p.Leu2359His) c.8405T>A (p.Leu2802His) c.6608T>A (p.Leu2203His) | |
| 6 | g.7585667T>C | CA362695082 | DSP | c.7076T>C (p.Leu2359Pro) c.8405T>C (p.Leu2802Pro) c.6608T>C (p.Leu2203Pro) | |
| 6 | g.7585667T>G | CA362695081 | DSP | c.7076T>G (p.Leu2359Arg) c.8405T>G (p.Leu2802Arg) c.6608T>G (p.Leu2203Arg) |