| 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.7585543G>A | CA133977666 | DSP | c.6952G>A (p.Ala2318Thr) c.8281G>A (p.Ala2761Thr) c.6484G>A (p.Ala2162Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585543G>C | CA362694823 | DSP | c.6952G>C (p.Ala2318Pro) c.8281G>C (p.Ala2761Pro) c.6484G>C (p.Ala2162Pro) | |
| 6 | g.7585543G= | CA1608614850 | DSP | c.6952G= (p.Ala2318=) c.8281G= (p.Ala2761=) c.6484G= (p.Ala2162=) | |
| 6 | g.7585543G>T | CA362694824 | DSP | c.6952G>T (p.Ala2318Ser) c.8281G>T (p.Ala2761Ser) c.6484G>T (p.Ala2162Ser) | |
| 6 | g.7585544C>A | CA362694825 | DSP | c.6953C>A (p.Ala2318Glu) c.8282C>A (p.Ala2761Glu) c.6485C>A (p.Ala2162Glu) | |
| 6 | g.7585544C>G | CA362694826 | DSP | c.6953C>G (p.Ala2318Gly) c.8282C>G (p.Ala2761Gly) c.6485C>G (p.Ala2162Gly) | |
| 6 | g.7585544C>T | CA362694827 | DSP | c.6953C>T (p.Ala2318Val) c.8282C>T (p.Ala2761Val) c.6485C>T (p.Ala2162Val) | ClinVar |
| 6 | g.7585545A= | CA1608614863 | DSP | c.6954A= (p.Ala2318=) c.8283A= (p.Ala2761=) c.6486A= (p.Ala2162=) | |
| 6 | g.7585545A>C | CA448716838 | DSP | c.6954A>C (p.Ala2318=) c.8283A>C (p.Ala2761=) c.6486A>C (p.Ala2162=) | ClinVar dbSNP |
| 6 | g.7585545A>G | CA448716837 | DSP | c.6954A>G (p.Ala2318=) c.8283A>G (p.Ala2761=) c.6486A>G (p.Ala2162=) | |
| 6 | g.7585545A>T | CA448716836 | DSP | c.6954A>T (p.Ala2318=) c.8283A>T (p.Ala2761=) c.6486A>T (p.Ala2162=) | |
| 6 | g.7585546C>A | CA362694828 | DSP | c.6955C>A (p.Gln2319Lys) c.8284C>A (p.Gln2762Lys) c.6487C>A (p.Gln2163Lys) | gnomAD v4 |
| 6 | g.7585546C= | CA1608614867 | DSP | c.6955C= (p.Gln2319=) c.8284C= (p.Gln2762=) c.6487C= (p.Gln2163=) | |
| 6 | g.7585546C>G | CA133977668 | DSP | c.6955C>G (p.Gln2319Glu) c.8284C>G (p.Gln2762Glu) c.6487C>G (p.Gln2163Glu) | dbSNP gnomAD v4 |
| 6 | g.7585546C>T | CA362694829 | DSP | c.6955C>T (p.Gln2319Ter) c.8284C>T (p.Gln2762Ter) c.6487C>T (p.Gln2163Ter) | ClinVar dbSNP |
| 6 | g.7585546dup | CA2677221628 | DSP | c.6955dup (p.Gln2319ProfsTer25) c.8284dup (p.Gln2762ProfsTer25) c.6487dup (p.Gln2163ProfsTer25) | gnomAD v4 |
| 6 | g.7585547A>C | CA362694832 | DSP | c.6956A>C (p.Gln2319Pro) c.8285A>C (p.Gln2762Pro) c.6488A>C (p.Gln2163Pro) | |
| 6 | g.7585547A>G | CA362694830 | DSP | c.6956A>G (p.Gln2319Arg) c.8285A>G (p.Gln2762Arg) c.6488A>G (p.Gln2163Arg) | gnomAD v4 |
| 6 | g.7585547A>T | CA362694831 | DSP | c.6956A>T (p.Gln2319Leu) c.8285A>T (p.Gln2762Leu) c.6488A>T (p.Gln2163Leu) | |
| 6 | g.7585548G>A | CA448716840 | DSP | c.6957G>A (p.Gln2319=) c.8286G>A (p.Gln2762=) c.6489G>A (p.Gln2163=) | |
| 6 | g.7585548G>C | CA362694833 | DSP | c.6957G>C (p.Gln2319His) c.8286G>C (p.Gln2762His) c.6489G>C (p.Gln2163His) | |
| 6 | g.7585548G>T | CA362694834 | DSP | c.6957G>T (p.Gln2319His) c.8286G>T (p.Gln2762His) c.6489G>T (p.Gln2163His) | |
| 6 | g.7585549A>C | CA448716841 | DSP | c.6958A>C (p.Arg2320=) c.8287A>C (p.Arg2763=) c.6490A>C (p.Arg2164=) | |
| 6 | g.7585549A>G | CA362694835 | DSP | c.6958A>G (p.Arg2320Gly) c.8287A>G (p.Arg2763Gly) c.6490A>G (p.Arg2164Gly) | |
| 6 | g.7585549A>T | CA362694836 | DSP | c.6958A>T (p.Arg2320Trp) c.8287A>T (p.Arg2763Trp) c.6490A>T (p.Arg2164Trp) | |
| 6 | g.7585550G>A | CA362694837 | DSP | c.6959G>A (p.Arg2320Lys) c.8288G>A (p.Arg2763Lys) c.6491G>A (p.Arg2164Lys) | ClinVar gnomAD v4 |
| 6 | g.7585550G>C | CA362694838 | DSP | c.6959G>C (p.Arg2320Thr) c.8288G>C (p.Arg2763Thr) c.6491G>C (p.Arg2164Thr) | |
| 6 | g.7585550G= | CA1608614874 | DSP | c.6959G= (p.Arg2320=) c.8288G= (p.Arg2763=) c.6491G= (p.Arg2164=) | |
| 6 | g.7585550G>T | CA362694839 | DSP | c.6959G>T (p.Arg2320Met) c.8288G>T (p.Arg2763Met) c.6491G>T (p.Arg2164Met) | |
| 6 | g.7585551G>A | CA448716846 | DSP | c.6960G>A (p.Arg2320=) c.8289G>A (p.Arg2763=) c.6492G>A (p.Arg2164=) | |
| 6 | g.7585551G>C | CA362694840 | DSP | c.6960G>C (p.Arg2320Ser) c.8289G>C (p.Arg2763Ser) c.6492G>C (p.Arg2164Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585551G= | CA1608614880 | DSP | c.6960G= (p.Arg2320=) c.8289G= (p.Arg2763=) c.6492G= (p.Arg2164=) | |
| 6 | g.7585551G>T | CA362694841 | DSP | c.6960G>T (p.Arg2320Ser) c.8289G>T (p.Arg2763Ser) c.6492G>T (p.Arg2164Ser) | dbSNP |
| 6 | g.7585553_7585554insTGCT | CA051983 | DSP | c.6962_6963insTGCT (p.Gln2322AlafsTer23) c.8291_8292insTGCT (p.Gln2765AlafsTer23) c.6494_6495insTGCT (p.Gln2166AlafsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585551_7585560del | CA2677221644 | DSP | c.6960_6969del (p.Leu2321ProfsTer8) c.8289_8298del (p.Leu2764ProfsTer8) c.6492_6501del (p.Leu2165ProfsTer8) | gnomAD v4 |
| 6 | g.7585552C>A | CA362694842 | DSP | c.6961C>A (p.Leu2321Met) c.8290C>A (p.Leu2764Met) c.6493C>A (p.Leu2165Met) | |
| 6 | g.7585552C= | CA1608614889 | DSP | c.6961C= (p.Leu2321=) c.8290C= (p.Leu2764=) c.6493C= (p.Leu2165=) | |
| 6 | g.7585552C>G | CA362694843 | DSP | c.6961C>G (p.Leu2321Val) c.8290C>G (p.Leu2764Val) c.6493C>G (p.Leu2165Val) | |
| 6 | g.7585552C>T | CA448716848 | DSP | c.6961C>T (p.Leu2321=) c.8290C>T (p.Leu2764=) c.6493C>T (p.Leu2165=) | gnomAD v4 |
| 6 | g.7585553T>A | CA362694846 | DSP | c.6962T>A (p.Leu2321Gln) c.8291T>A (p.Leu2764Gln) c.6494T>A (p.Leu2165Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585553T>C | CA362694845 | DSP | c.6962T>C (p.Leu2321Pro) c.8291T>C (p.Leu2764Pro) c.6494T>C (p.Leu2165Pro) | |
| 6 | g.7585553T>G | CA362694844 | DSP | c.6962T>G (p.Leu2321Arg) c.8291T>G (p.Leu2764Arg) c.6494T>G (p.Leu2165Arg) | |
| 6 | g.7585553T= | CA1608614893 | DSP | c.6962T= (p.Leu2321=) c.8291T= (p.Leu2764=) c.6494T= (p.Leu2165=) | |
| 6 | g.7585555_7585556insTTGC | CA828146638 | DSP | c.6964_6965insTTGC (p.Gln2322LeufsTer23) c.8293_8294insTTGC (p.Gln2765LeufsTer23) c.6496_6497insTTGC (p.Gln2166LeufsTer23) | dbSNP |
| 6 | g.7585554G>A | CA448716852 | DSP | c.6963G>A (p.Leu2321=) c.8292G>A (p.Leu2764=) c.6495G>A (p.Leu2165=) | |
| 6 | g.7585554G>C | CA448716853 | DSP | c.6963G>C (p.Leu2321=) c.8292G>C (p.Leu2764=) c.6495G>C (p.Leu2165=) | |
| 6 | g.7585554G>T | CA448716855 | DSP | c.6963G>T (p.Leu2321=) c.8292G>T (p.Leu2764=) c.6495G>T (p.Leu2165=) | |
| 6 | g.7585555C>A | CA362694849 | DSP | c.6964C>A (p.Gln2322Lys) c.8293C>A (p.Gln2765Lys) c.6496C>A (p.Gln2166Lys) | |
| 6 | g.7585555C= | CA1608614896 | DSP | c.6964C= (p.Gln2322=) c.8293C= (p.Gln2765=) c.6496C= (p.Gln2166=) | |
| 6 | g.7585555C>G | CA362694847 | DSP | c.6964C>G (p.Gln2322Glu) c.8293C>G (p.Gln2765Glu) c.6496C>G (p.Gln2166Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585555C>T | CA362694848 | DSP | c.6964C>T (p.Gln2322Ter) c.8293C>T (p.Gln2765Ter) c.6496C>T (p.Gln2166Ter) | gnomAD v4 |
| 6 | g.7585556A>C | CA362694850 | DSP | c.6965A>C (p.Gln2322Pro) c.8294A>C (p.Gln2765Pro) c.6497A>C (p.Gln2166Pro) | |
| 6 | g.7585556A>G | CA362694851 | DSP | c.6965A>G (p.Gln2322Arg) c.8294A>G (p.Gln2765Arg) c.6497A>G (p.Gln2166Arg) | gnomAD v4 |
| 6 | g.7585556A>T | CA362694852 | DSP | c.6965A>T (p.Gln2322Leu) c.8294A>T (p.Gln2765Leu) c.6497A>T (p.Gln2166Leu) | |
| 6 | g.7585557A= | CA1608614900 | DSP | c.6966A= (p.Gln2322=) c.8295A= (p.Gln2765=) c.6498A= (p.Gln2166=) | |
| 6 | g.7585557A>C | CA362694853 | DSP | c.6966A>C (p.Gln2322His) c.8295A>C (p.Gln2765His) c.6498A>C (p.Gln2166His) | |
| 6 | g.7585557A>G | CA448716861 | DSP | c.6966A>G (p.Gln2322=) c.8295A>G (p.Gln2765=) c.6498A>G (p.Gln2166=) | dbSNP gnomAD v4 |
| 6 | g.7585557A>T | CA362694854 | DSP | c.6966A>T (p.Gln2322His) c.8295A>T (p.Gln2765His) c.6498A>T (p.Gln2166His) | |
| 6 | g.7585558G>A | CA362694857 | DSP | c.6967G>A (p.Asp2323Asn) c.8296G>A (p.Asp2766Asn) c.6499G>A (p.Asp2167Asn) | ClinVar dbSNP |
| 6 | g.7585558G>C | CA362694855 | DSP | c.6967G>C (p.Asp2323His) c.8296G>C (p.Asp2766His) c.6499G>C (p.Asp2167His) | |
| 6 | g.7585558G= | CA1608614901 | DSP | c.6967G= (p.Asp2323=) c.8296G= (p.Asp2766=) c.6499G= (p.Asp2167=) | |
| 6 | g.7585558G>T | CA362694856 | DSP | c.6967G>T (p.Asp2323Tyr) c.8296G>T (p.Asp2766Tyr) c.6499G>T (p.Asp2167Tyr) | |
| 6 | g.7585559A= | CA1608614903 | DSP | c.6968A= (p.Asp2323=) c.8297A= (p.Asp2766=) c.6500A= (p.Asp2167=) | |
| 6 | g.7585559A>C | CA362694858 | DSP | c.6968A>C (p.Asp2323Ala) c.8297A>C (p.Asp2766Ala) c.6500A>C (p.Asp2167Ala) | dbSNP |
| 6 | g.7585559A>G | CA362694859 | DSP | c.6968A>G (p.Asp2323Gly) c.8297A>G (p.Asp2766Gly) c.6500A>G (p.Asp2167Gly) | |
| 6 | g.7585559A>T | CA362694860 | DSP | c.6968A>T (p.Asp2323Val) c.8297A>T (p.Asp2766Val) c.6500A>T (p.Asp2167Val) | |
| 6 | g.7585560C>A | CA362694861 | DSP | c.6969C>A (p.Asp2323Glu) c.8298C>A (p.Asp2766Glu) c.6501C>A (p.Asp2167Glu) | |
| 6 | g.7585560C= | CA1608614909 | DSP | c.6969C= (p.Asp2323=) c.8298C= (p.Asp2766=) c.6501C= (p.Asp2167=) | |
| 6 | g.7585560C>G | CA051999 | DSP | c.6969C>G (p.Asp2323Glu) c.8298C>G (p.Asp2766Glu) c.6501C>G (p.Asp2167Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585560C>T | CA448716868 | DSP | c.6969C>T (p.Asp2323=) c.8298C>T (p.Asp2766=) c.6501C>T (p.Asp2167=) | |
| 6 | g.7585561A= | CA1608614911 | DSP | c.6970A= (p.Thr2324=) c.8299A= (p.Thr2767=) c.6502A= (p.Thr2168=) | |
| 6 | g.7585561A>C | CA362694864 | DSP | c.6970A>C (p.Thr2324Pro) c.8299A>C (p.Thr2767Pro) c.6502A>C (p.Thr2168Pro) | |
| 6 | g.7585561A>G | CA362694862 | DSP | c.6970A>G (p.Thr2324Ala) c.8299A>G (p.Thr2767Ala) c.6502A>G (p.Thr2168Ala) | ClinVar dbSNP |
| 6 | g.7585561A>T | CA362694863 | DSP | c.6970A>T (p.Thr2324Ser) c.8299A>T (p.Thr2767Ser) c.6502A>T (p.Thr2168Ser) | |
| 6 | g.7585562C>A | CA007447 | DSP | c.6971C>A (p.Thr2324Asn) c.8300C>A (p.Thr2767Asn) c.6503C>A (p.Thr2168Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585562C= | CA1608614916 | DSP | c.6971C= (p.Thr2324=) c.8300C= (p.Thr2767=) c.6503C= (p.Thr2168=) | |
| 6 | g.7585562C>G | CA362694865 | DSP | c.6971C>G (p.Thr2324Ser) c.8300C>G (p.Thr2767Ser) c.6503C>G (p.Thr2168Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585562C>T | CA362694866 | DSP | c.6971C>T (p.Thr2324Ile) c.8300C>T (p.Thr2767Ile) c.6503C>T (p.Thr2168Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585563C>A | CA448716873 | DSP | c.6972C>A (p.Thr2324=) c.8301C>A (p.Thr2767=) c.6504C>A (p.Thr2168=) | |
| 6 | g.7585563C= | CA1608614930 | DSP | c.6972C= (p.Thr2324=) c.8301C= (p.Thr2767=) c.6504C= (p.Thr2168=) | |
| 6 | g.7585563C>G | CA007457 | DSP | c.6972C>G (p.Thr2324=) c.8301C>G (p.Thr2767=) c.6504C>G (p.Thr2168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585563C>T | CA052037 | DSP | c.6972C>T (p.Thr2324=) c.8301C>T (p.Thr2767=) c.6504C>T (p.Thr2168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585564A= | CA1608614935 | DSP | c.6973A= (p.Ser2325=) c.8302A= (p.Ser2768=) c.6505A= (p.Ser2169=) | |
| 6 | g.7585564A>C | CA362694867 | DSP | c.6973A>C (p.Ser2325Arg) c.8302A>C (p.Ser2768Arg) c.6505A>C (p.Ser2169Arg) | |
| 6 | g.7585564A>G | CA133977714 | DSP | c.6973A>G (p.Ser2325Gly) c.8302A>G (p.Ser2768Gly) c.6505A>G (p.Ser2169Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585564A>T | CA362694868 | DSP | c.6973A>T (p.Ser2325Cys) c.8302A>T (p.Ser2768Cys) c.6505A>T (p.Ser2169Cys) | |
| 6 | g.7585565G>A | CA362694869 | DSP | c.6974G>A (p.Ser2325Asn) c.8303G>A (p.Ser2768Asn) c.6506G>A (p.Ser2169Asn) | |
| 6 | g.7585565G>C | CA362694870 | DSP | c.6974G>C (p.Ser2325Thr) c.8303G>C (p.Ser2768Thr) c.6506G>C (p.Ser2169Thr) | |
| 6 | g.7585565G>T | CA362694871 | DSP | c.6974G>T (p.Ser2325Ile) c.8303G>T (p.Ser2768Ile) c.6506G>T (p.Ser2169Ile) | |
| 6 | g.7585566C>A | CA362694872 | DSP | c.6975C>A (p.Ser2325Arg) c.8304C>A (p.Ser2768Arg) c.6507C>A (p.Ser2169Arg) | dbSNP gnomAD v4 |
| 6 | g.7585566C= | CA1608614945 | DSP | c.6975C= (p.Ser2325=) c.8304C= (p.Ser2768=) c.6507C= (p.Ser2169=) | |
| 6 | g.7585566C>G | CA362694873 | DSP | c.6975C>G (p.Ser2325Arg) c.8304C>G (p.Ser2768Arg) c.6507C>G (p.Ser2169Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585566C>T | CA448716879 | DSP | c.6975C>T (p.Ser2325=) c.8304C>T (p.Ser2768=) c.6507C>T (p.Ser2169=) | gnomAD v4 |
| 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?) |