Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71431206C= | CA1981484902 | DHCR7 | c.320-2354G= | |
11 | g.71431206C>T | CA679808285 | DHCR7 | c.320-2354G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71431212T>C | CA224320224 | DHCR7 | c.320-2360A>G | dbSNP |
11 | g.71431212T= | CA1981484903 | DHCR7 | c.320-2360A= | |
11 | g.71431213G>A | CA600050949 | DHCR7 | c.320-2361C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431213G= | CA1981484904 | DHCR7 | c.320-2361C= | |
11 | g.71431214T>C | CA1981484906 | DHCR7 | c.320-2362A>G | dbSNP |
11 | g.71431214T= | CA1981484905 | DHCR7 | c.320-2362A= | |
11 | g.71431215A= | CA1981484907 | DHCR7 | c.320-2363T= | |
11 | g.71431215A>C | CA224320235 | DHCR7 | c.320-2363T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431215A>G | CA600050950 | DHCR7 | c.320-2363T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431215A>T | CA939370108 | DHCR7 | c.320-2363T>A | gnomAD v3 gnomAD v4 |
11 | g.71431221C= | CA1981484908 | DHCR7 | c.320-2369G= | |
11 | g.71431221C>T | CA224320238 | DHCR7 | c.320-2369G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431224_71431225delinsAT | CA1981484909 | DHCR7 | c.320-2373_320-2372delinsAT | |
11 | g.71431225T>C | CA224320244 | DHCR7 | c.320-2373A>G | dbSNP |
11 | g.71431225T= | CA1981484910 | DHCR7 | c.320-2373A= | |
11 | g.71431226del | CA1981484911 | DHCR7 | c.320-2373del | dbSNP |
11 | g.71431227A>G | CA2598895438 | DHCR7 | c.320-2375T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71431235T>C | CA224320252 | DHCR7 | c.320-2383A>G | dbSNP |
11 | g.71431235T= | CA1981484912 | DHCR7 | c.320-2383A= | |
11 | g.71431239G>A | CA939370114 | DHCR7 | c.320-2387C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71431239G= | CA1981484913 | DHCR7 | c.320-2387C= | |
11 | g.71431244T>C | CA600050954 | DHCR7 | c.320-2392A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431244T= | CA1981484914 | DHCR7 | c.320-2392A= | |
11 | g.71431251T>C | CA600050955 | DHCR7 | c.320-2399A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431251T>G | CA939370118 | DHCR7 | c.320-2399A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71431251T= | CA1981484915 | DHCR7 | c.320-2399A= | |
11 | g.71431256G>A | CA2536750374 | DHCR7 | c.320-2404C>T | |
11 | g.71431259G>A | CA224320257 | DHCR7 | c.320-2407C>T | dbSNP |
11 | g.71431259G= | CA1981484916 | DHCR7 | c.320-2407C= | |
11 | g.71431260G>A | CA2598895440 | DHCR7 | c.320-2408C>T | gnomAD v3 gnomAD v4 |
11 | g.71431266G>C | CA1981484917 | DHCR7 | c.320-2414C>G | dbSNP |
11 | g.71431266G= | CA1981484918 | DHCR7 | c.320-2414C= | |
11 | g.71431271A= | CA1981484919 | DHCR7 | c.320-2419T= | |
11 | g.71431271A>G | CA1981484920 | DHCR7 | c.320-2419T>C | dbSNP |
11 | g.71431272T>C | CA679808314 | DHCR7 | c.320-2420A>G | dbSNP |
11 | g.71431272T= | CA1981484921 | DHCR7 | c.320-2420A= | |
11 | g.71431277G>C | CA2724530152 | DHCR7 | c.320-2425C>G | dbSNP |
11 | g.71431278G>A | CA600050957 | DHCR7 | c.320-2426C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431278G= | CA1981484922 | DHCR7 | c.320-2426C= | |
11 | g.71431279G>A | CA224320276 | DHCR7 | c.320-2427C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431279G>C | CA679808335 | DHCR7 | c.320-2427C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71431279G= | CA1981484923 | DHCR7 | c.320-2427C= | |
11 | g.71431281A= | CA1981484924 | DHCR7 | c.320-2429T= | |
11 | g.71431281A>G | CA1981484925 | DHCR7 | c.320-2429T>C | dbSNP |
11 | g.71431281A>T | CA600050959 | DHCR7 | c.320-2429T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71431283T>A | CA939370123 | DHCR7 | c.320-2431A>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71431283T= | CA1981484926 | DHCR7 | c.320-2431A= | |
11 | g.71431287C>A | CA224320277 | DHCR7 | c.320-2435G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |