Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.109980955A=CA1484811161EGFc.2351A= (p.Asp784=)
c.2225A= (p.Asp742=)
n.279A=
n.315A=
c.2240A= (p.Asp747=)
n.2804A=
c.2375A= (p.Asp792=)
c.2249A= (p.Asp750=)
n.2828A=
4g.109980955A>CCA357885139EGFc.2351A>C (p.Asp784Ala)
c.2225A>C (p.Asp742Ala)
n.279A>C
n.315A>C
c.2240A>C (p.Asp747Ala)
n.2804A>C
c.2375A>C (p.Asp792Ala)
c.2249A>C (p.Asp750Ala)
n.2828A>C
4g.109980955A>GCA357885140EGFc.2351A>G (p.Asp784Gly)
c.2225A>G (p.Asp742Gly)
n.279A>G
n.315A>G
c.2240A>G (p.Asp747Gly)
n.2804A>G
c.2375A>G (p.Asp792Gly)
c.2249A>G (p.Asp750Gly)
n.2828A>G
4g.109980955A>TCA3043939EGFc.2351A>T (p.Asp784Val)
c.2225A>T (p.Asp742Val)
n.279A>T
n.315A>T
c.2240A>T (p.Asp747Val)
n.2804A>T
c.2375A>T (p.Asp792Val)
c.2249A>T (p.Asp750Val)
n.2828A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.109980956T>ACA357885141EGFc.2352T>A (p.Asp784Glu)
c.2226T>A (p.Asp742Glu)
n.280T>A
n.316T>A
c.2241T>A (p.Asp747Glu)
n.2805T>A
c.2376T>A (p.Asp792Glu)
c.2250T>A (p.Asp750Glu)
n.2829T>A
4g.109980956T>CCA440594097EGFc.2352T>C (p.Asp784=)
c.2226T>C (p.Asp742=)
n.280T>C
n.316T>C
c.2241T>C (p.Asp747=)
n.2805T>C
c.2376T>C (p.Asp792=)
c.2250T>C (p.Asp750=)
n.2829T>C
dbSNP gnomAD v2 gnomAD v4
4g.109980956T>GCA357885142EGFc.2352T>G (p.Asp784Glu)
c.2226T>G (p.Asp742Glu)
n.280T>G
n.316T>G
c.2241T>G (p.Asp747Glu)
n.2805T>G
c.2376T>G (p.Asp792Glu)
c.2250T>G (p.Asp750Glu)
n.2829T>G
4g.109980956T=CA1484811167EGFc.2352T= (p.Asp784=)
c.2226T= (p.Asp742=)
n.280T=
n.316T=
c.2241T= (p.Asp747=)
n.2805T=
c.2376T= (p.Asp792=)
c.2250T= (p.Asp750=)
n.2829T=
4g.109980957G>ACA357885145EGFc.2353G>A (p.Gly785Ser)
c.2227G>A (p.Gly743Ser)
n.281G>A
n.317G>A
c.2242G>A (p.Gly748Ser)
n.2806G>A
c.2377G>A (p.Gly793Ser)
c.2251G>A (p.Gly751Ser)
n.2830G>A
dbSNP gnomAD v2 gnomAD v4
4g.109980957G>CCA357885144EGFc.2353G>C (p.Gly785Arg)
c.2227G>C (p.Gly743Arg)
n.281G>C
n.317G>C
c.2242G>C (p.Gly748Arg)
n.2806G>C
c.2377G>C (p.Gly793Arg)
c.2251G>C (p.Gly751Arg)
n.2830G>C
4g.109980957G=CA1484811172EGFc.2353G= (p.Gly785=)
c.2227G= (p.Gly743=)
n.281G=
n.317G=
c.2242G= (p.Gly748=)
n.2806G=
c.2377G= (p.Gly793=)
c.2251G= (p.Gly751=)
n.2830G=
4g.109980957G>TCA357885143EGFc.2353G>T (p.Gly785Cys)
c.2227G>T (p.Gly743Cys)
n.281G>T
n.317G>T
c.2242G>T (p.Gly748Cys)
n.2806G>T
c.2377G>T (p.Gly793Cys)
c.2251G>T (p.Gly751Cys)
n.2830G>T
4g.109980958G>ACA3043940EGFc.2354G>A (p.Gly785Asp)
c.2228G>A (p.Gly743Asp)
n.282G>A
n.318G>A
c.2243G>A (p.Gly748Asp)
n.2807G>A
c.2378G>A (p.Gly793Asp)
c.2252G>A (p.Gly751Asp)
n.2831G>A
dbSNP ExAC gnomAD v2 gnomAD v4
4g.109980958G>CCA357885146EGFc.2354G>C (p.Gly785Ala)
c.2228G>C (p.Gly743Ala)
n.282G>C
n.318G>C
c.2243G>C (p.Gly748Ala)
n.2807G>C
c.2378G>C (p.Gly793Ala)
c.2252G>C (p.Gly751Ala)
n.2831G>C
4g.109980958G=CA1484811173EGFc.2354G= (p.Gly785=)
c.2228G= (p.Gly743=)
n.282G=
n.318G=
c.2243G= (p.Gly748=)
n.2807G=
c.2378G= (p.Gly793=)
c.2252G= (p.Gly751=)
n.2831G=
4g.109980958G>TCA357885147EGFc.2354G>T (p.Gly785Val)
c.2228G>T (p.Gly743Val)
n.282G>T
n.318G>T
c.2243G>T (p.Gly748Val)
n.2807G>T
c.2378G>T (p.Gly793Val)
c.2252G>T (p.Gly751Val)
n.2831G>T
4g.109980959T>ACA440594099EGFc.2355T>A (p.Gly785=)
c.2229T>A (p.Gly743=)
n.283T>A
n.319T>A
c.2244T>A (p.Gly748=)
n.2808T>A
c.2379T>A (p.Gly793=)
c.2253T>A (p.Gly751=)
n.2832T>A
4g.109980959T>CCA440594100EGFc.2355T>C (p.Gly785=)
c.2229T>C (p.Gly743=)
n.283T>C
n.319T>C
c.2244T>C (p.Gly748=)
n.2808T>C
c.2379T>C (p.Gly793=)
c.2253T>C (p.Gly751=)
n.2832T>C
gnomAD v4
4g.109980959T>GCA440594101EGFc.2355T>G (p.Gly785=)
c.2229T>G (p.Gly743=)
n.283T>G
n.319T>G
c.2244T>G (p.Gly748=)
n.2808T>G
c.2379T>G (p.Gly793=)
c.2253T>G (p.Gly751=)
n.2832T>G
4g.109980960C>ACA357885148EGFc.2356C>A (p.His786Asn)
c.2230C>A (p.His744Asn)
n.284C>A
n.320C>A
c.2245C>A (p.His749Asn)
n.2809C>A
c.2380C>A (p.His794Asn)
c.2254C>A (p.His752Asn)
n.2833C>A
4g.109980960C>GCA357885149EGFc.2356C>G (p.His786Asp)
c.2230C>G (p.His744Asp)
n.284C>G
n.320C>G
c.2245C>G (p.His749Asp)
n.2809C>G
c.2380C>G (p.His794Asp)
c.2254C>G (p.His752Asp)
n.2833C>G
4g.109980960C>TCA357885150EGFc.2356C>T (p.His786Tyr)
c.2230C>T (p.His744Tyr)
n.284C>T
n.320C>T
c.2245C>T (p.His749Tyr)
n.2809C>T
c.2380C>T (p.His794Tyr)
c.2254C>T (p.His752Tyr)
n.2833C>T
4g.109980961A>CCA357885151EGFc.2357A>C (p.His786Pro)
c.2231A>C (p.His744Pro)
n.285A>C
n.321A>C
c.2246A>C (p.His749Pro)
n.2810A>C
c.2381A>C (p.His794Pro)
c.2255A>C (p.His752Pro)
n.2834A>C
4g.109980961A>GCA357885153EGFc.2357A>G (p.His786Arg)
c.2231A>G (p.His744Arg)
n.285A>G
n.321A>G
c.2246A>G (p.His749Arg)
n.2810A>G
c.2381A>G (p.His794Arg)
c.2255A>G (p.His752Arg)
n.2834A>G
4g.109980961A>TCA357885152EGFc.2357A>T (p.His786Leu)
c.2231A>T (p.His744Leu)
n.285A>T
n.321A>T
c.2246A>T (p.His749Leu)
n.2810A>T
c.2381A>T (p.His794Leu)
c.2255A>T (p.His752Leu)
n.2834A>T
4g.109980962T>ACA357885154EGFc.2358T>A (p.His786Gln)
c.2232T>A (p.His744Gln)
n.286T>A
n.322T>A
c.2247T>A (p.His749Gln)
n.2811T>A
c.2382T>A (p.His794Gln)
c.2256T>A (p.His752Gln)
n.2835T>A
4g.109980962T>CCA440594105EGFc.2358T>C (p.His786=)
c.2232T>C (p.His744=)
n.286T>C
n.322T>C
c.2247T>C (p.His749=)
n.2811T>C
c.2382T>C (p.His794=)
c.2256T>C (p.His752=)
n.2835T>C
4g.109980962T>GCA357885155EGFc.2358T>G (p.His786Gln)
c.2232T>G (p.His744Gln)
n.286T>G
n.322T>G
c.2247T>G (p.His749Gln)
n.2811T>G
c.2382T>G (p.His794Gln)
c.2256T>G (p.His752Gln)
n.2835T>G
4g.109980963C>ACA357885156EGFc.2359C>A (p.Gln787Lys)
c.2233C>A (p.Gln745Lys)
n.287C>A
n.323C>A
c.2248C>A (p.Gln750Lys)
n.2812C>A
c.2383C>A (p.Gln795Lys)
c.2257C>A (p.Gln753Lys)
n.2836C>A
4g.109980963C>GCA357885157EGFc.2359C>G (p.Gln787Glu)
c.2233C>G (p.Gln745Glu)
n.287C>G
n.323C>G
c.2248C>G (p.Gln750Glu)
n.2812C>G
c.2383C>G (p.Gln795Glu)
c.2257C>G (p.Gln753Glu)
n.2836C>G
4g.109980963C>TCA357885158EGFc.2359C>T (p.Gln787Ter)
c.2233C>T (p.Gln745Ter)
n.287C>T
n.323C>T
c.2248C>T (p.Gln750Ter)
n.2812C>T
c.2383C>T (p.Gln795Ter)
c.2257C>T (p.Gln753Ter)
n.2836C>T
4g.109980964A=CA1484811176EGFc.2360A= (p.Gln787=)
c.2234A= (p.Gln745=)
n.288A=
n.324A=
c.2249A= (p.Gln750=)
n.2813A=
c.2384A= (p.Gln795=)
c.2258A= (p.Gln753=)
n.2837A=
4g.109980964A>CCA357885159EGFc.2360A>C (p.Gln787Pro)
c.2234A>C (p.Gln745Pro)
n.288A>C
n.324A>C
c.2249A>C (p.Gln750Pro)
n.2813A>C
c.2384A>C (p.Gln795Pro)
c.2258A>C (p.Gln753Pro)
n.2837A>C
4g.109980964A>GCA357885160EGFc.2360A>G (p.Gln787Arg)
c.2234A>G (p.Gln745Arg)
n.288A>G
n.324A>G
c.2249A>G (p.Gln750Arg)
n.2813A>G
c.2384A>G (p.Gln795Arg)
c.2258A>G (p.Gln753Arg)
n.2837A>G
dbSNP
4g.109980964A>TCA357885161EGFc.2360A>T (p.Gln787Leu)
c.2234A>T (p.Gln745Leu)
n.288A>T
n.324A>T
c.2249A>T (p.Gln750Leu)
n.2813A>T
c.2384A>T (p.Gln795Leu)
c.2258A>T (p.Gln753Leu)
n.2837A>T
4g.109980965G>ACA440594106EGFc.2361G>A (p.Gln787=)
c.2235G>A (p.Gln745=)
n.289G>A
n.325G>A
c.2250G>A (p.Gln750=)
n.2814G>A
c.2385G>A (p.Gln795=)
c.2259G>A (p.Gln753=)
n.2838G>A
4g.109980965G>CCA3043941EGFc.2361G>C (p.Gln787His)
c.2235G>C (p.Gln745His)
n.289G>C
n.325G>C
c.2250G>C (p.Gln750His)
n.2814G>C
c.2385G>C (p.Gln795His)
c.2259G>C (p.Gln753His)
n.2838G>C
dbSNP ExAC gnomAD v2 gnomAD v4
4g.109980965G=CA1484811179EGFc.2361G= (p.Gln787=)
c.2235G= (p.Gln745=)
n.289G=
n.325G=
c.2250G= (p.Gln750=)
n.2814G=
c.2385G= (p.Gln795=)
c.2259G= (p.Gln753=)
n.2838G=
4g.109980965G>TCA357885162EGFc.2361G>T (p.Gln787His)
c.2235G>T (p.Gln745His)
n.289G>T
n.325G>T
c.2250G>T (p.Gln750His)
n.2814G>T
c.2385G>T (p.Gln795His)
c.2259G>T (p.Gln753His)
n.2838G>T
4g.109980966C>ACA357885163EGFc.2362C>A (p.Leu788Met)
c.2236C>A (p.Leu746Met)
n.290C>A
n.326C>A
c.2251C>A (p.Leu751Met)
n.2815C>A
c.2386C>A (p.Leu796Met)
c.2260C>A (p.Leu754Met)
n.2839C>A
4g.109980966C=CA1484811189EGFc.2362C= (p.Leu788=)
c.2236C= (p.Leu746=)
n.290C=
n.326C=
c.2251C= (p.Leu751=)
n.2815C=
c.2386C= (p.Leu796=)
c.2260C= (p.Leu754=)
n.2839C=
4g.109980966C>GCA357885164EGFc.2362C>G (p.Leu788Val)
c.2236C>G (p.Leu746Val)
n.290C>G
n.326C>G
c.2251C>G (p.Leu751Val)
n.2815C>G
c.2386C>G (p.Leu796Val)
c.2260C>G (p.Leu754Val)
n.2839C>G
4g.109980966C>TCA3043942EGFc.2362C>T (p.Leu788=)
c.2236C>T (p.Leu746=)
n.290C>T
n.326C>T
c.2251C>T (p.Leu751=)
n.2815C>T
c.2386C>T (p.Leu796=)
c.2260C>T (p.Leu754=)
n.2839C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.109980967T>ACA357885165EGFc.2363T>A (p.Leu788Gln)
c.2237T>A (p.Leu746Gln)
n.291T>A
n.327T>A
c.2252T>A (p.Leu751Gln)
n.2816T>A
c.2387T>A (p.Leu796Gln)
c.2261T>A (p.Leu754Gln)
n.2840T>A
4g.109980967T>CCA357885167EGFc.2363T>C (p.Leu788Pro)
c.2237T>C (p.Leu746Pro)
n.291T>C
n.327T>C
c.2252T>C (p.Leu751Pro)
n.2816T>C
c.2387T>C (p.Leu796Pro)
c.2261T>C (p.Leu754Pro)
n.2840T>C
4g.109980967T>GCA357885166EGFc.2363T>G (p.Leu788Arg)
c.2237T>G (p.Leu746Arg)
n.291T>G
n.327T>G
c.2252T>G (p.Leu751Arg)
n.2816T>G
c.2387T>G (p.Leu796Arg)
c.2261T>G (p.Leu754Arg)
n.2840T>G
4g.109980968G>ACA440594111EGFc.2364G>A (p.Leu788=)
c.2238G>A (p.Leu746=)
n.292G>A
n.328G>A
c.2253G>A (p.Leu751=)
n.2817G>A
c.2388G>A (p.Leu796=)
c.2262G>A (p.Leu754=)
n.2841G>A
gnomAD v4 COSMIC
4g.109980968G>CCA440594112EGFc.2364G>C (p.Leu788=)
c.2238G>C (p.Leu746=)
n.292G>C
n.328G>C
c.2253G>C (p.Leu751=)
n.2817G>C
c.2388G>C (p.Leu796=)
c.2262G>C (p.Leu754=)
n.2841G>C
4g.109980968G=CA1484811198EGFc.2364G= (p.Leu788=)
c.2238G= (p.Leu746=)
n.292G=
n.328G=
c.2253G= (p.Leu751=)
n.2817G=
c.2388G= (p.Leu796=)
c.2262G= (p.Leu754=)
n.2841G=
4g.109980968G>TCA3043943EGFc.2364G>T (p.Leu788=)
c.2238G>T (p.Leu746=)
n.292G>T
n.328G>T
c.2253G>T (p.Leu751=)
n.2817G>T
c.2388G>T (p.Leu796=)
c.2262G>T (p.Leu754=)
n.2841G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched