Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7143078T>A | CA403662785 | INSR | c.2280A>T (p.Lys760Asn) c.2244A>T (p.Lys748Asn) c.2358A>T (p.Lys786Asn) c.2322A>T (p.Lys774Asn) | |
19 | g.7143078T>C | CA9135586 | INSR | c.2280A>G (p.Lys760=) c.2244A>G (p.Lys748=) c.2358A>G (p.Lys786=) c.2322A>G (p.Lys774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7143078T>G | CA403662786 | INSR | c.2280A>C (p.Lys760Asn) c.2244A>C (p.Lys748Asn) c.2358A>C (p.Lys786Asn) c.2322A>C (p.Lys774Asn) | |
19 | g.7143078T= | CA2320776136 | INSR | c.2280A= (p.Lys760=) c.2244A= (p.Lys748=) c.2358A= (p.Lys786=) c.2322A= (p.Lys774=) | |
19 | g.7143079T>A | CA403662787 | INSR | c.2279A>T (p.Lys760Ile) c.2243A>T (p.Lys748Ile) c.2357A>T (p.Lys786Ile) c.2321A>T (p.Lys774Ile) | |
19 | g.7143079T>C | CA403662788 | INSR | c.2279A>G (p.Lys760Arg) c.2243A>G (p.Lys748Arg) c.2357A>G (p.Lys786Arg) c.2321A>G (p.Lys774Arg) | |
19 | g.7143079T>G | CA403662789 | INSR | c.2279A>C (p.Lys760Thr) c.2243A>C (p.Lys748Thr) c.2357A>C (p.Lys786Thr) c.2321A>C (p.Lys774Thr) | |
19 | g.7143080T>A | CA403662790 | INSR | c.2278A>T (p.Lys760Ter) c.2242A>T (p.Lys748Ter) c.2356A>T (p.Lys786Ter) c.2320A>T (p.Lys774Ter) | |
19 | g.7143080T>C | CA403662791 | INSR | c.2278A>G (p.Lys760Glu) c.2242A>G (p.Lys748Glu) c.2356A>G (p.Lys786Glu) c.2320A>G (p.Lys774Glu) | |
19 | g.7143080T>G | CA403662792 | INSR | c.2278A>C (p.Lys760Gln) c.2242A>C (p.Lys748Gln) c.2356A>C (p.Lys786Gln) c.2320A>C (p.Lys774Gln) | |
19 | g.7143081C>A | CA505400450 | INSR | c.2277G>T (p.Arg759=) c.2241G>T (p.Arg747=) c.2355G>T (p.Arg785=) c.2319G>T (p.Arg773=) | |
19 | g.7143081C>G | CA505400451 | INSR | c.2277G>C (p.Arg759=) c.2241G>C (p.Arg747=) c.2355G>C (p.Arg785=) c.2319G>C (p.Arg773=) | |
19 | g.7143081C>T | CA505400453 | INSR | c.2277G>A (p.Arg759=) c.2241G>A (p.Arg747=) c.2355G>A (p.Arg785=) c.2319G>A (p.Arg773=) | gnomAD v4 |
19 | g.7143082C>A | CA403662793 | INSR | c.2276G>T (p.Arg759Leu) c.2240G>T (p.Arg747Leu) c.2354G>T (p.Arg785Leu) c.2318G>T (p.Arg773Leu) | |
19 | g.7143082C= | CA2320776139 | INSR | c.2276G= (p.Arg759=) c.2240G= (p.Arg747=) c.2354G= (p.Arg785=) c.2318G= (p.Arg773=) | |
19 | g.7143082C>G | CA403662794 | INSR | c.2276G>C (p.Arg759Pro) c.2240G>C (p.Arg747Pro) c.2354G>C (p.Arg785Pro) c.2318G>C (p.Arg773Pro) | |
19 | g.7143082C>T | CA403662795 | INSR | c.2276G>A (p.Arg759Gln) c.2240G>A (p.Arg747Gln) c.2354G>A (p.Arg785Gln) c.2318G>A (p.Arg773Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.7143083G>A | CA16620911 | INSR | c.2275C>T (p.Arg759Trp) c.2239C>T (p.Arg747Trp) c.2353C>T (p.Arg785Trp) c.2317C>T (p.Arg773Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7143083G>C | CA403662796 | INSR | c.2275C>G (p.Arg759Gly) c.2239C>G (p.Arg747Gly) c.2353C>G (p.Arg785Gly) c.2317C>G (p.Arg773Gly) | |
19 | g.7143083G= | CA2320776142 | INSR | c.2275C= (p.Arg759=) c.2239C= (p.Arg747=) c.2353C= (p.Arg785=) c.2317C= (p.Arg773=) | |
19 | g.7143083G>T | CA505400454 | INSR | c.2275C>A (p.Arg759=) c.2239C>A (p.Arg747=) c.2353C>A (p.Arg785=) c.2317C>A (p.Arg773=) | |
19 | g.7143084A= | CA2320776145 | INSR | c.2274T= (p.Ser758=) c.2238T= (p.Ser746=) c.2352T= (p.Ser784=) c.2316T= (p.Ser772=) | |
19 | g.7143084A>C | CA505400455 | INSR | c.2274T>G (p.Ser758=) c.2238T>G (p.Ser746=) c.2352T>G (p.Ser784=) c.2316T>G (p.Ser772=) | |
19 | g.7143084A>G | CA9135587 | INSR | c.2274T>C (p.Ser758=) c.2238T>C (p.Ser746=) c.2352T>C (p.Ser784=) c.2316T>C (p.Ser772=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7143084A>T | CA505400457 | INSR | c.2274T>A (p.Ser758=) c.2238T>A (p.Ser746=) c.2352T>A (p.Ser784=) c.2316T>A (p.Ser772=) | |
19 | g.7143085G>A | CA403662797 | INSR | c.2273C>T (p.Ser758Phe) c.2237C>T (p.Ser746Phe) c.2351C>T (p.Ser784Phe) c.2315C>T (p.Ser772Phe) | |
19 | g.7143085G>C | CA403662798 | INSR | c.2273C>G (p.Ser758Cys) c.2237C>G (p.Ser746Cys) c.2351C>G (p.Ser784Cys) c.2315C>G (p.Ser772Cys) | |
19 | g.7143085G>T | CA403662799 | INSR | c.2273C>A (p.Ser758Tyr) c.2237C>A (p.Ser746Tyr) c.2351C>A (p.Ser784Tyr) c.2315C>A (p.Ser772Tyr) | |
19 | g.7143086A>C | CA403662800 | INSR | c.2272T>G (p.Ser758Ala) c.2236T>G (p.Ser746Ala) c.2350T>G (p.Ser784Ala) c.2314T>G (p.Ser772Ala) | |
19 | g.7143086A>G | CA403662801 | INSR | c.2272T>C (p.Ser758Pro) c.2236T>C (p.Ser746Pro) c.2350T>C (p.Ser784Pro) c.2314T>C (p.Ser772Pro) | gnomAD v4 |
19 | g.7143086A>T | CA403662802 | INSR | c.2272T>A (p.Ser758Thr) c.2236T>A (p.Ser746Thr) c.2350T>A (p.Ser784Thr) c.2314T>A (p.Ser772Thr) | |
19 | g.7143087T>A | CA505400458 | INSR | c.2271A>T (p.Pro757=) c.2235A>T (p.Pro745=) c.2349A>T (p.Pro783=) c.2313A>T (p.Pro771=) | |
19 | g.7143087T>C | CA505400459 | INSR | c.2271A>G (p.Pro757=) c.2235A>G (p.Pro745=) c.2349A>G (p.Pro783=) c.2313A>G (p.Pro771=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7143087T>G | CA505400460 | INSR | c.2271A>C (p.Pro757=) c.2235A>C (p.Pro745=) c.2349A>C (p.Pro783=) c.2313A>C (p.Pro771=) | |
19 | g.7143087T= | CA2320776147 | INSR | c.2271A= (p.Pro757=) c.2235A= (p.Pro745=) c.2349A= (p.Pro783=) c.2313A= (p.Pro771=) | |
19 | g.7143088G>A | CA403662803 | INSR | c.2270C>T (p.Pro757Leu) c.2234C>T (p.Pro745Leu) c.2348C>T (p.Pro783Leu) c.2312C>T (p.Pro771Leu) | |
19 | g.7143088G>C | CA403662804 | INSR | c.2270C>G (p.Pro757Arg) c.2234C>G (p.Pro745Arg) c.2348C>G (p.Pro783Arg) c.2312C>G (p.Pro771Arg) | |
19 | g.7143088G>T | CA403662805 | INSR | c.2270C>A (p.Pro757Gln) c.2234C>A (p.Pro745Gln) c.2348C>A (p.Pro783Gln) c.2312C>A (p.Pro771Gln) | |
19 | g.7143089G>A | CA403662806 | INSR | c.2269C>T (p.Pro757Ser) c.2233C>T (p.Pro745Ser) c.2347C>T (p.Pro783Ser) c.2311C>T (p.Pro771Ser) | |
19 | g.7143089G>C | CA403662807 | INSR | c.2269C>G (p.Pro757Ala) c.2233C>G (p.Pro745Ala) c.2347C>G (p.Pro783Ala) c.2311C>G (p.Pro771Ala) | |
19 | g.7143089G>T | CA403662808 | INSR | c.2269C>A (p.Pro757Thr) c.2233C>A (p.Pro745Thr) c.2347C>A (p.Pro783Thr) c.2311C>A (p.Pro771Thr) | |
19 | g.7143090C>A | CA403662809 | INSR | c.2268G>T (p.Arg756Ser) c.2232G>T (p.Arg744Ser) c.2346G>T (p.Arg782Ser) c.2310G>T (p.Arg770Ser) | gnomAD v4 COSMIC COSMIC |
19 | g.7143090C>G | CA403662810 | INSR | c.2268G>C (p.Arg756Ser) c.2232G>C (p.Arg744Ser) c.2346G>C (p.Arg782Ser) c.2310G>C (p.Arg770Ser) | |
19 | g.7143090C>T | CA505400464 | INSR | c.2268G>A (p.Arg756=) c.2232G>A (p.Arg744=) c.2346G>A (p.Arg782=) c.2310G>A (p.Arg770=) | |
19 | g.7143091C>A | CA403662811 | INSR | c.2268-1G>T (n.2268-1G>T) c.2232-1G>T (n.2232-1G>T) c.2346-1G>T (n.2346-1G>T) c.2310-1G>T (n.2310-1G>T) | |
19 | g.7143091C>G | CA403662813 | INSR | c.2268-1G>C (n.2268-1G>C) c.2232-1G>C (n.2232-1G>C) c.2346-1G>C (n.2346-1G>C) c.2310-1G>C (n.2310-1G>C) | |
19 | g.7143091C>T | CA403662812 | INSR | c.2268-1G>A (n.2268-1G>A) c.2232-1G>A (n.2232-1G>A) c.2346-1G>A (n.2346-1G>A) c.2310-1G>A (n.2310-1G>A) | |
19 | g.7143092T>A | CA403662814 | INSR | c.2268-2A>T (n.2268-2A>T) c.2232-2A>T (n.2232-2A>T) c.2346-2A>T (n.2346-2A>T) c.2310-2A>T (n.2310-2A>T) | |
19 | g.7143092T>C | CA403662815 | INSR | c.2268-2A>G (n.2268-2A>G) c.2232-2A>G (n.2232-2A>G) c.2346-2A>G (n.2346-2A>G) c.2310-2A>G (n.2310-2A>G) | |
19 | g.7143092T>G | CA403662816 | INSR | c.2268-2A>C (n.2268-2A>C) c.2232-2A>C (n.2232-2A>C) c.2346-2A>C (n.2346-2A>C) c.2310-2A>C (n.2310-2A>C) |