UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119050478A>C | CA2611124088 | EIF3A | c.2473+43T>G (n.2473+43T>G) | gnomAD v4 |
| 10 | g.119050480C= | CA1939906984 | EIF3A | c.2473+41G= (n.2473+41G=) | |
| 10 | g.119050480C>T | CA214174815 | EIF3A | c.2473+41G>A (n.2473+41G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119050481C= | CA1939906985 | EIF3A | c.2473+40G= (n.2473+40G=) | |
| 10 | g.119050481C>T | CA660593945 | EIF3A | c.2473+40G>A (n.2473+40G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119050482T>C | CA596310051 | EIF3A | c.2473+39A>G (n.2473+39A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119050482T= | CA1939906986 | EIF3A | c.2473+39A= (n.2473+39A=) | |
| 10 | g.119050483T>C | CA2611124098 | EIF3A | c.2473+38A>G (n.2473+38A>G) | gnomAD v4 |
| 10 | g.119050484G>C | CA2611124100 | EIF3A | c.2473+37C>G (n.2473+37C>G) | gnomAD v4 |
| 10 | g.119050484G>T | CA2611124104 | EIF3A | c.2473+37C>A (n.2473+37C>A) | gnomAD v4 |
| 10 | g.119050485C= | CA1939906987 | EIF3A | c.2473+36G= (n.2473+36G=) | |
| 10 | g.119050485C>T | CA214174816 | EIF3A | c.2473+36G>A (n.2473+36G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050486A>G | CA2611124105 | EIF3A | c.2473+35T>C (n.2473+35T>C) | gnomAD v4 |
| 10 | g.119050487T>C | CA5713337 | EIF3A | c.2473+34A>G (n.2473+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050487T= | CA1939906988 | EIF3A | c.2473+34A= (n.2473+34A=) | |
| 10 | g.119050488T>C | CA2611124108 | EIF3A | c.2473+33A>G (n.2473+33A>G) | gnomAD v4 |
| 10 | g.119050489dup | CA2611124111 | EIF3A | c.2473+32dup (n.2473+32dup) | gnomAD v4 |
| 10 | g.119050490G>A | CA2611124112 | EIF3A | c.2473+31C>T (n.2473+31C>T) | gnomAD v4 |
| 10 | g.119050491C= | CA1939906989 | EIF3A | c.2473+30G= (n.2473+30G=) | |
| 10 | g.119050491C>T | CA5713338 | EIF3A | c.2473+30G>A (n.2473+30G>A) | dbSNP ExAC gnomAD v2 |
| 10 | g.119050493C>A | CA2789690356 | EIF3A | c.2473+28G>T (n.2473+28G>T) | |
| 10 | g.119050493C>T | CA2611124113 | EIF3A | c.2473+28G>A (n.2473+28G>A) | gnomAD v4 |
| 10 | g.119050494C= | CA1939906990 | EIF3A | c.2473+27G= (n.2473+27G=) | |
| 10 | g.119050494C>T | CA933097361 | EIF3A | c.2473+27G>A (n.2473+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119050495C>A | CA2611124114 | EIF3A | c.2473+26G>T (n.2473+26G>T) | gnomAD v4 |
| 10 | g.119050495C= | CA1939906991 | EIF3A | c.2473+26G= (n.2473+26G=) | |
| 10 | g.119050495C>T | CA214174823 | EIF3A | c.2473+26G>A (n.2473+26G>A) | dbSNP |
| 10 | g.119050496C>A | CA2611124115 | EIF3A | c.2473+25G>T (n.2473+25G>T) | gnomAD v4 |
| 10 | g.119050497del | CA471628735 | EIF3A | c.2473+24del (n.2473+24del) | |
| 10 | g.119050497T>C | CA2611124116 | EIF3A | c.2473+24A>G (n.2473+24A>G) | gnomAD v4 |
| 10 | g.119050498C>A | CA2611124117 | EIF3A | c.2473+23G>T (n.2473+23G>T) | gnomAD v4 |
| 10 | g.119050498C>T | CA2574701754 | EIF3A | c.2473+23G>A (n.2473+23G>A) | |
| 10 | g.119050500A= | CA1939906992 | EIF3A | c.2473+21T= (n.2473+21T=) | |
| 10 | g.119050500A>C | CA1939906993 | EIF3A | c.2473+21T>G (n.2473+21T>G) | dbSNP gnomAD v4 |
| 10 | g.119050500A>G | CA2611124118 | EIF3A | c.2473+21T>C (n.2473+21T>C) | gnomAD v4 |
| 10 | g.119050502T>C | CA2574701755 | EIF3A | c.2473+19A>G (n.2473+19A>G) | gnomAD v4 |
| 10 | g.119050502T>G | CA2611124119 | EIF3A | c.2473+19A>C (n.2473+19A>C) | gnomAD v4 |
| 10 | g.119050503C>A | CA933097364 | EIF3A | c.2473+18G>T (n.2473+18G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119050503C= | CA1939906994 | EIF3A | c.2473+18G= (n.2473+18G=) | |
| 10 | g.119050503C>G | CA2611124120 | EIF3A | c.2473+18G>C (n.2473+18G>C) | gnomAD v4 |
| 10 | g.119050505T>C | CA2611124121 | EIF3A | c.2473+16A>G (n.2473+16A>G) | gnomAD v4 |
| 10 | g.119050505T>G | CA2611124122 | EIF3A | c.2473+16A>C (n.2473+16A>C) | gnomAD v4 |
| 10 | g.119050506G>C | CA2722825396 | EIF3A | c.2473+15C>G (n.2473+15C>G) | dbSNP |
| 10 | g.119050506G>T | CA2611124123 | EIF3A | c.2473+15C>A (n.2473+15C>A) | gnomAD v4 |
| 10 | g.119050507T>G | CA2574701756 | EIF3A | c.2473+14A>C (n.2473+14A>C) | |
| 10 | g.119050508T>C | CA2611124124 | EIF3A | c.2473+13A>G (n.2473+13A>G) | gnomAD v4 |
| 10 | g.119050509T>A | CA596310054 | EIF3A | c.2473+12A>T (n.2473+12A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119050509T>C | CA2789690357 | EIF3A | c.2473+12A>G (n.2473+12A>G) | |
| 10 | g.119050509T>G | CA2611124125 | EIF3A | c.2473+12A>C (n.2473+12A>C) | gnomAD v4 |
| 10 | g.119050509T= | CA1939906995 | EIF3A | c.2473+12A= (n.2473+12A=) | |
| 10 | g.119050510G>A | CA5713339 | EIF3A | c.2473+11C>T (n.2473+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050510G>C | CA5713340 | EIF3A | c.2473+11C>G (n.2473+11C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119050510G= | CA1939906996 | EIF3A | c.2473+11C= (n.2473+11C=) | |
| 10 | g.119050511A>T | CA2722825430 | EIF3A | c.2473+10T>A (n.2473+10T>A) | dbSNP |
| 10 | g.119050512C= | CA1939906997 | EIF3A | c.2473+9G= (n.2473+9G=) | |
| 10 | g.119050512C>T | CA214174841 | EIF3A | c.2473+9G>A (n.2473+9G>A) | dbSNP gnomAD v4 |
| 10 | g.119050513del | CA2611124129 | EIF3A | c.2473+9del (n.2473+9del) | gnomAD v4 |
| 10 | g.119050513C>A | CA5713342 | EIF3A | c.2473+8G>T (n.2473+8G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050513C= | CA1939906998 | EIF3A | c.2473+8G= (n.2473+8G=) | |
| 10 | g.119050513C>T | CA5713341 | EIF3A | c.2473+8G>A (n.2473+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119050514T>C | CA2611124133 | EIF3A | c.2473+7A>G (n.2473+7A>G) | gnomAD v4 |
| 10 | g.119050517_119050518dup | CA2611124132 | EIF3A | c.2473+6_2473+7dup (n.2473+6_2473+7dup) | gnomAD v4 |
| 10 | g.119050515G>A | CA1939907000 | EIF3A | c.2473+6C>T (n.2473+6C>T) | dbSNP |
| 10 | g.119050515G>C | CA1939906999 | EIF3A | c.2473+6C>G (n.2473+6C>G) | dbSNP gnomAD v4 |
| 10 | g.119050515G= | CA1939907001 | EIF3A | c.2473+6C= (n.2473+6C=) | |
| 10 | g.119050516T>C | CA2611124136 | EIF3A | c.2473+5A>G (n.2473+5A>G) | gnomAD v4 |
| 10 | g.119050516T>G | CA1939907003 | EIF3A | c.2473+5A>C (n.2473+5A>C) | dbSNP gnomAD v4 |
| 10 | g.119050516T= | CA1939907002 | EIF3A | c.2473+5A= (n.2473+5A=) | |
| 10 | g.119050517G>A | CA1939907005 | EIF3A | c.2473+4C>T (n.2473+4C>T) | dbSNP |
| 10 | g.119050517G= | CA1939907004 | EIF3A | c.2473+4C= (n.2473+4C=) | |
| 10 | g.119050517G>T | CA596310060 | EIF3A | c.2473+4C>A (n.2473+4C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119050518T= | CA1939907006 | EIF3A | c.2473+3A= (n.2473+3A=) | |
| 10 | g.119050518_119050519insG | CA596310061 | EIF3A | c.2473+2_2473+3insC (n.2473+2_2473+3insC) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119050519A>C | CA378286046 | EIF3A | c.2473+2T>G (n.2473+2T>G) | |
| 10 | g.119050519A>G | CA378286047 | EIF3A | c.2473+2T>C (n.2473+2T>C) | |
| 10 | g.119050519A>T | CA378286048 | EIF3A | c.2473+2T>A (n.2473+2T>A) | |
| 10 | g.119050520C>A | CA378286255 | EIF3A | c.2473+1G>T (n.2473+1G>T) | |
| 10 | g.119050520C>G | CA378286258 | EIF3A | c.2473+1G>C (n.2473+1G>C) | |
| 10 | g.119050520C>T | CA378286260 | EIF3A | c.2473+1G>A (n.2473+1G>A) | |
| 10 | g.119050521C>A | CA378286262 | EIF3A | c.2473G>T (p.Glu825Ter) | |
| 10 | g.119050521C>G | CA378286264 | EIF3A | c.2473G>C (p.Glu825Gln) | |
| 10 | g.119050521C>T | CA378286266 | EIF3A | c.2473G>A (p.Glu825Lys) | |
| 10 | g.119050522T>A | CA378286268 | EIF3A | c.2472A>T (p.Lys824Asn) | |
| 10 | g.119050522T>C | CA471628814 | EIF3A | c.2472A>G (p.Lys824=) | |
| 10 | g.119050522T>G | CA378286270 | EIF3A | c.2472A>C (p.Lys824Asn) | |
| 10 | g.119050525del | CA2722825506 | EIF3A | c.2472del (p.Glu825SerfsTer24) | dbSNP |
| 10 | g.119050523T>A | CA378286273 | EIF3A | c.2471A>T (p.Lys824Ile) | |
| 10 | g.119050523T>C | CA378286275 | EIF3A | c.2471A>G (p.Lys824Arg) | gnomAD v4 |
| 10 | g.119050523T>G | CA378286276 | EIF3A | c.2471A>C (p.Lys824Thr) | |
| 10 | g.119050524T>A | CA378286278 | EIF3A | c.2470A>T (p.Lys824Ter) | |
| 10 | g.119050524T>C | CA378286280 | EIF3A | c.2470A>G (p.Lys824Glu) | |
| 10 | g.119050524T>G | CA378286283 | EIF3A | c.2470A>C (p.Lys824Gln) | |
| 10 | g.119050525T>A | CA471628816 | EIF3A | c.2469A>T (p.Leu823=) | |
| 10 | g.119050525T>C | CA471628818 | EIF3A | c.2469A>G (p.Leu823=) | dbSNP gnomAD v4 |
| 10 | g.119050525T>G | CA471628817 | EIF3A | c.2469A>C (p.Leu823=) | |
| 10 | g.119050525T= | CA1939907007 | EIF3A | c.2469A= (p.Leu823=) | |
| 10 | g.119050526A>C | CA378286286 | EIF3A | c.2468T>G (p.Leu823Arg) | gnomAD v4 |
| 10 | g.119050526A>G | CA378286289 | EIF3A | c.2468T>C (p.Leu823Pro) | |
| 10 | g.119050526A>T | CA378286292 | EIF3A | c.2468T>A (p.Leu823Gln) | |
| 10 | g.119050527G>A | CA471628819 | EIF3A | c.2467C>T (p.Leu823=) | |
| 10 | g.119050527G>C | CA378286294 | EIF3A | c.2467C>G (p.Leu823Val) | |
| 10 | g.119050527G>T | CA378286296 | EIF3A | c.2467C>A (p.Leu823Ile) | |
| 10 | g.119050528C>A | CA378286303 | EIF3A | c.2466G>T (p.Met822Ile) | |
| 10 | g.119050528C= | CA1939907008 | EIF3A | c.2466G= (p.Met822=) | |
| 10 | g.119050528C>G | CA378286301 | EIF3A | c.2466G>C (p.Met822Ile) | |
| 10 | g.119050528C>T | CA5713343 | EIF3A | c.2466G>A (p.Met822Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119050529A>C | CA378286306 | EIF3A | c.2465T>G (p.Met822Arg) | |
| 10 | g.119050529A>G | CA378286312 | EIF3A | c.2465T>C (p.Met822Thr) | gnomAD v4 COSMIC |
| 10 | g.119050529A>T | CA378286308 | EIF3A | c.2465T>A (p.Met822Lys) | |
| 10 | g.119050530T>A | CA378286314 | EIF3A | c.2464A>T (p.Met822Leu) | |
| 10 | g.119050530T>C | CA378286316 | EIF3A | c.2464A>G (p.Met822Val) | |
| 10 | g.119050530T>G | CA378286317 | EIF3A | c.2464A>C (p.Met822Leu) | |
| 10 | g.119050531T>A | CA5713344 | EIF3A | c.2463A>T (p.Gln821His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050531T>C | CA471628821 | EIF3A | c.2463A>G (p.Gln821=) | |
| 10 | g.119050531T>G | CA378286318 | EIF3A | c.2463A>C (p.Gln821His) | |
| 10 | g.119050531T= | CA1939907009 | EIF3A | c.2463A= (p.Gln821=) | |
| 10 | g.119050532T>A | CA378286320 | EIF3A | c.2462A>T (p.Gln821Leu) | |
| 10 | g.119050532T>C | CA378286322 | EIF3A | c.2462A>G (p.Gln821Arg) | |
| 10 | g.119050532T>G | CA378286323 | EIF3A | c.2462A>C (p.Gln821Pro) | |
| 10 | g.119050534_119050551del | CA2574701757 | EIF3A | c.2445_2462del (p.Arg816_Gln821del) | |
| 10 | g.119050533G>A | CA378286324 | EIF3A | c.2461C>T (p.Gln821Ter) | |
| 10 | g.119050533G>C | CA5713345 | EIF3A | c.2461C>G (p.Gln821Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050533G= | CA1939907010 | EIF3A | c.2461C= (p.Gln821=) | |
| 10 | g.119050533G>T | CA378286328 | EIF3A | c.2461C>A (p.Gln821Lys) | |
| 10 | g.119050534T>A | CA378286329 | EIF3A | c.2460A>T (p.Glu820Asp) | |
| 10 | g.119050534T>C | CA471628822 | EIF3A | c.2460A>G (p.Glu820=) | |
| 10 | g.119050534T>G | CA378286330 | EIF3A | c.2460A>C (p.Glu820Asp) | |
| 10 | g.119050535T>A | CA378286331 | EIF3A | c.2459A>T (p.Glu820Val) | |
| 10 | g.119050535T>C | CA378286333 | EIF3A | c.2459A>G (p.Glu820Gly) | |
| 10 | g.119050535T>G | CA378286332 | EIF3A | c.2459A>C (p.Glu820Ala) | |
| 10 | g.119050536C>A | CA378286334 | EIF3A | c.2458G>T (p.Glu820Ter) | |
| 10 | g.119050536C= | CA1939907011 | EIF3A | c.2458G= (p.Glu820=) | |
| 10 | g.119050536C>G | CA378286335 | EIF3A | c.2458G>C (p.Glu820Gln) | |
| 10 | g.119050536C>T | CA378286336 | EIF3A | c.2458G>A (p.Glu820Lys) | dbSNP |
| 10 | g.119050537T>A | CA378286337 | EIF3A | c.2457A>T (p.Glu819Asp) | |
| 10 | g.119050537T>C | CA471628824 | EIF3A | c.2457A>G (p.Glu819=) | |
| 10 | g.119050537T>G | CA378286338 | EIF3A | c.2457A>C (p.Glu819Asp) | dbSNP |
| 10 | g.119050537T= | CA1939907012 | EIF3A | c.2457A= (p.Glu819=) | |
| 10 | g.119050538T>A | CA378286339 | EIF3A | c.2456A>T (p.Glu819Val) | |
| 10 | g.119050538T>C | CA378286340 | EIF3A | c.2456A>G (p.Glu819Gly) | |
| 10 | g.119050538T>G | CA378286341 | EIF3A | c.2456A>C (p.Glu819Ala) | |
| 10 | g.119050539C>A | CA378286342 | EIF3A | c.2455G>T (p.Glu819Ter) | |
| 10 | g.119050539C>G | CA378286343 | EIF3A | c.2455G>C (p.Glu819Gln) | |
| 10 | g.119050539C>T | CA378286344 | EIF3A | c.2455G>A (p.Glu819Lys) | |
| 10 | g.119050540T>A | CA471628825 | EIF3A | c.2454A>T (p.Ala818=) | |
| 10 | g.119050540T>C | CA471628826 | EIF3A | c.2454A>G (p.Ala818=) | |
| 10 | g.119050540T>G | CA214174853 | EIF3A | c.2454A>C (p.Ala818=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050540T= | CA1939907013 | EIF3A | c.2454A= (p.Ala818=) | |
| 10 | g.119050541G>A | CA378286347 | EIF3A | c.2453C>T (p.Ala818Val) | |
| 10 | g.119050541G>C | CA378286345 | EIF3A | c.2453C>G (p.Ala818Gly) | dbSNP |
| 10 | g.119050541G= | CA1939907014 | EIF3A | c.2453C= (p.Ala818=) | |
| 10 | g.119050541G>T | CA378286346 | EIF3A | c.2453C>A (p.Ala818Glu) | |
| 10 | g.119050542C>A | CA378286348 | EIF3A | c.2452G>T (p.Ala818Ser) | |
| 10 | g.119050542C= | CA1939907015 | EIF3A | c.2452G= (p.Ala818=) | |
| 10 | g.119050542C>G | CA378286349 | EIF3A | c.2452G>C (p.Ala818Pro) | |
| 10 | g.119050542C>T | CA5713346 | EIF3A | c.2452G>A (p.Ala818Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050542_119050543insACCACT | CA1939907016 | EIF3A | c.2451_2452insAGTGGT (p.Arg817_Ala818insSerGly) | dbSNP |
| 10 | g.119050543C>A | CA378286350 | EIF3A | c.2451G>T (p.Arg817Ser) | |
| 10 | g.119050543C>G | CA378286351 | EIF3A | c.2451G>C (p.Arg817Ser) | |
| 10 | g.119050543C>T | CA471628828 | EIF3A | c.2451G>A (p.Arg817=) | dbSNP |
| 10 | g.119050544C>A | CA378286352 | EIF3A | c.2450G>T (p.Arg817Met) | |
| 10 | g.119050544C= | CA1939907017 | EIF3A | c.2450G= (p.Arg817=) | |
| 10 | g.119050544C>G | CA5713347 | EIF3A | c.2450G>C (p.Arg817Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119050544C>T | CA378286353 | EIF3A | c.2450G>A (p.Arg817Lys) | |
| 10 | g.119050545T>A | CA378286354 | EIF3A | c.2449A>T (p.Arg817Trp) | |
| 10 | g.119050545T>C | CA378286355 | EIF3A | c.2449A>G (p.Arg817Gly) | |
| 10 | g.119050545T>G | CA471628830 | EIF3A | c.2449A>C (p.Arg817=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119050545T= | CA1939907018 | EIF3A | c.2449A= (p.Arg817=) | |
| 10 | g.119050546T>A | CA378286356 | EIF3A | c.2448A>T (p.Arg816Ser) | |
| 10 | g.119050546T>C | CA471628831 | EIF3A | c.2448A>G (p.Arg816=) | gnomAD v4 |
| 10 | g.119050546T>G | CA378286357 | EIF3A | c.2448A>C (p.Arg816Ser) | |
| 10 | g.119050547C>A | CA378286358 | EIF3A | c.2447G>T (p.Arg816Ile) | |
| 10 | g.119050547C>G | CA378286360 | EIF3A | c.2447G>C (p.Arg816Thr) | |
| 10 | g.119050547C>T | CA378286359 | EIF3A | c.2447G>A (p.Arg816Lys) | |
| 10 | g.119050548T>A | CA378286361 | EIF3A | c.2446A>T (p.Arg816Ter) | |
| 10 | g.119050548T>C | CA378286362 | EIF3A | c.2446A>G (p.Arg816Gly) | dbSNP |
| 10 | g.119050548T>G | CA471628832 | EIF3A | c.2446A>C (p.Arg816=) | |
| 10 | g.119050548T= | CA1939907019 | EIF3A | c.2446A= (p.Arg816=) | |
| 10 | g.119050549C>A | CA378286363 | EIF3A | c.2445G>T (p.Gln815His) | |
| 10 | g.119050549C>G | CA378286364 | EIF3A | c.2445G>C (p.Gln815His) | |
| 10 | g.119050549C>T | CA471628833 | EIF3A | c.2445G>A (p.Gln815=) | |
| 10 | g.119050550T>A | CA378286365 | EIF3A | c.2444A>T (p.Gln815Leu) | |
| 10 | g.119050550T>C | CA378286366 | EIF3A | c.2444A>G (p.Gln815Arg) | |
| 10 | g.119050550T>G | CA378286367 | EIF3A | c.2444A>C (p.Gln815Pro) | |
| 10 | g.119050551G>A | CA378286368 | EIF3A | c.2443C>T (p.Gln815Ter) | |
| 10 | g.119050551G>C | CA378286369 | EIF3A | c.2443C>G (p.Gln815Glu) | |
| 10 | g.119050551G>T | CA378286370 | EIF3A | c.2443C>A (p.Gln815Lys) | |
| 10 | g.119050551_119050554delinsGCTC | CA1939907020 | EIF3A | c.2440_2443delinsGAGC (p.Glu814=) | |
| 10 | g.119050552C>A | CA378286373 | EIF3A | c.2442G>T (p.Glu814Asp) | |
| 10 | g.119050552C>G | CA378286371 | EIF3A | c.2442G>C (p.Glu814Asp) | gnomAD v4 |
| 10 | g.119050552C>T | CA471628835 | EIF3A | c.2442G>A (p.Glu814=) | |
| 10 | g.119050558_119050560del | CA5713348 | EIF3A | c.2440_2442del (p.Glu814del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119050553T>A | CA378286374 | EIF3A | c.2441A>T (p.Glu814Val) | |
| 10 | g.119050553T>C | CA378286378 | EIF3A | c.2441A>G (p.Glu814Gly) | |
| 10 | g.119050553T>G | CA378286376 | EIF3A | c.2441A>C (p.Glu814Ala) | |
| 10 | g.119050554C>A | CA378286380 | EIF3A | c.2440G>T (p.Glu814Ter) | |
| 10 | g.119050554C>G | CA378286382 | EIF3A | c.2440G>C (p.Glu814Gln) | |
| 10 | g.119050554C>T | CA378286384 | EIF3A | c.2440G>A (p.Glu814Lys) | gnomAD v4 |
| 10 | g.119050555C>A | CA378286385 | EIF3A | c.2439G>T (p.Glu813Asp) | |
| 10 | g.119050555C= | CA1939907021 | EIF3A | c.2439G= (p.Glu813=) | |
| 10 | g.119050555C>G | CA378286386 | EIF3A | c.2439G>C (p.Glu813Asp) | |
| 10 | g.119050555C>T | CA5713349 | EIF3A | c.2439G>A (p.Glu813=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050556T>A | CA378286387 | EIF3A | c.2438A>T (p.Glu813Val) | |
| 10 | g.119050556T>C | CA378286389 | EIF3A | c.2438A>G (p.Glu813Gly) | |
| 10 | g.119050556T>G | CA214174881 | EIF3A | c.2438A>C (p.Glu813Ala) | dbSNP |
| 10 | g.119050556T= | CA1939907022 | EIF3A | c.2438A= (p.Glu813=) | |
| 10 | g.119050557C>A | CA378286396 | EIF3A | c.2437G>T (p.Glu813Ter) | |
| 10 | g.119050557C= | CA1939907023 | EIF3A | c.2437G= (p.Glu813=) | |
| 10 | g.119050557C>G | CA378286398 | EIF3A | c.2437G>C (p.Glu813Gln) | |
| 10 | g.119050557C>T | CA378286399 | EIF3A | c.2437G>A (p.Glu813Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119050558C>A | CA378286401 | EIF3A | c.2436G>T (p.Glu812Asp) | |
| 10 | g.119050558C>G | CA378286403 | EIF3A | c.2436G>C (p.Glu812Asp) | |
| 10 | g.119050558C>T | CA471628837 | EIF3A | c.2436G>A (p.Glu812=) | |
| 10 | g.119050558_119050561delinsCTCT | CA1939907024 | EIF3A | c.2433_2436delinsAGAG (p.Glu811=) | |
| 10 | g.119050559T>A | CA378286405 | EIF3A | c.2435A>T (p.Glu812Val) | |
| 10 | g.119050559T>C | CA378286407 | EIF3A | c.2435A>G (p.Glu812Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119050559T>G | CA378286409 | EIF3A | c.2435A>C (p.Glu812Ala) | |
| 10 | g.119050559T= | CA1939907025 | EIF3A | c.2435A= (p.Glu812=) | |
| 10 | g.119050563_119050565del | CA5713350 | EIF3A | c.2433_2435del (p.Glu812del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119050560C>A | CA378286410 | EIF3A | c.2434G>T (p.Glu812Ter) | |
| 10 | g.119050560C>G | CA378286411 | EIF3A | c.2434G>C (p.Glu812Gln) | |
| 10 | g.119050560C>T | CA378286413 | EIF3A | c.2434G>A (p.Glu812Lys) | dbSNP |
| 10 | g.119050561T>A | CA378286414 | EIF3A | c.2433A>T (p.Glu811Asp) | |
| 10 | g.119050561T>C | CA5713351 | EIF3A | c.2433A>G (p.Glu811=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050561T>G | CA378286421 | EIF3A | c.2433A>C (p.Glu811Asp) | |
| 10 | g.119050561T= | CA1939907026 | EIF3A | c.2433A= (p.Glu811=) | |
| 10 | g.119050562T>A | CA378286422 | EIF3A | c.2432A>T (p.Glu811Val) | |
| 10 | g.119050562T>C | CA378286423 | EIF3A | c.2432A>G (p.Glu811Gly) | |
| 10 | g.119050562T>G | CA378286424 | EIF3A | c.2432A>C (p.Glu811Ala) | |
| 10 | g.119050563C>A | CA378286430 | EIF3A | c.2431G>T (p.Glu811Ter) | |
| 10 | g.119050563C>G | CA378286426 | EIF3A | c.2431G>C (p.Glu811Gln) | |
| 10 | g.119050563C>T | CA378286427 | EIF3A | c.2431G>A (p.Glu811Lys) | |
| 10 | g.119050564T>A | CA378286431 | EIF3A | c.2430A>T (p.Lys810Asn) | gnomAD v4 |
| 10 | g.119050564T>C | CA471628840 | EIF3A | c.2430A>G (p.Lys810=) | dbSNP |
| 10 | g.119050564T>G | CA378286432 | EIF3A | c.2430A>C (p.Lys810Asn) | |
| 10 | g.119050568del | CA2722825584 | EIF3A | c.2430del (p.Glu811LysfsTer13) | dbSNP |
| 10 | g.119050566_119050568del | CA2611124212 | EIF3A | c.2428_2430del (p.Lys810del) | gnomAD v4 |
| 10 | g.119050565T>A | CA378286434 | EIF3A | c.2429A>T (p.Lys810Ile) | |
| 10 | g.119050565T>C | CA378286435 | EIF3A | c.2429A>G (p.Lys810Arg) | gnomAD v4 |
| 10 | g.119050565T>G | CA378286437 | EIF3A | c.2429A>C (p.Lys810Thr) | |
| 10 | g.119050566T>A | CA378286438 | EIF3A | c.2428A>T (p.Lys810Ter) | |
| 10 | g.119050566T>C | CA378286440 | EIF3A | c.2428A>G (p.Lys810Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119050566T>G | CA378286441 | EIF3A | c.2428A>C (p.Lys810Gln) | |
| 10 | g.119050566T= | CA1939907027 | EIF3A | c.2428A= (p.Lys810=) | |
| 10 | g.119050567T>A | CA378286442 | EIF3A | c.2427A>T (p.Glu809Asp) | |
| 10 | g.119050567T>C | CA471628842 | EIF3A | c.2427A>G (p.Glu809=) | |
| 10 | g.119050567T>G | CA378286444 | EIF3A | c.2427A>C (p.Glu809Asp) | |
| 10 | g.119050568T>A | CA378286445 | EIF3A | c.2426A>T (p.Glu809Val) | |
| 10 | g.119050568T>C | CA378286446 | EIF3A | c.2426A>G (p.Glu809Gly) | dbSNP |
| 10 | g.119050568T>G | CA378286448 | EIF3A | c.2426A>C (p.Glu809Ala) | |
| 10 | g.119050568T= | CA1939907028 | EIF3A | c.2426A= (p.Glu809=) | |
| 10 | g.119050569C>A | CA378286453 | EIF3A | c.2425G>T (p.Glu809Ter) | |
| 10 | g.119050569C>G | CA378286451 | EIF3A | c.2425G>C (p.Glu809Gln) | |
| 10 | g.119050569C>T | CA378286450 | EIF3A | c.2425G>A (p.Glu809Lys) | gnomAD v4 |
| 10 | g.119050570T>A | CA378286454 | EIF3A | c.2424A>T (p.Arg808Ser) | |
| 10 | g.119050570T>C | CA471628847 | EIF3A | c.2424A>G (p.Arg808=) | |
| 10 | g.119050570T>G | CA378286456 | EIF3A | c.2424A>C (p.Arg808Ser) | |
| 10 | g.119050571C>A | CA378286458 | EIF3A | c.2423G>T (p.Arg808Ile) | |
| 10 | g.119050571C>G | CA378286459 | EIF3A | c.2423G>C (p.Arg808Thr) | |
| 10 | g.119050571C>T | CA378286461 | EIF3A | c.2423G>A (p.Arg808Lys) | |
| 10 | g.119050572T>A | CA378286462 | EIF3A | c.2422A>T (p.Arg808Ter) | |
| 10 | g.119050572T>C | CA378286463 | EIF3A | c.2422A>G (p.Arg808Gly) | |
| 10 | g.119050572T>G | CA471628848 | EIF3A | c.2422A>C (p.Arg808=) | |
| 10 | g.119050573A= | CA1939907029 | EIF3A | c.2421T= (p.Tyr807=) | |
| 10 | g.119050573A>C | CA378286464 | EIF3A | c.2421T>G (p.Tyr807Ter) | |
| 10 | g.119050573A>G | CA5713352 | EIF3A | c.2421T>C (p.Tyr807=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050573A>T | CA378286466 | EIF3A | c.2421T>A (p.Tyr807Ter) | |
| 10 | g.119050574T>A | CA378286467 | EIF3A | c.2420A>T (p.Tyr807Phe) | |
| 10 | g.119050574T>C | CA5713353 | EIF3A | c.2420A>G (p.Tyr807Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119050574T>G | CA378286469 | EIF3A | c.2420A>C (p.Tyr807Ser) | |
| 10 | g.119050574T= | CA1939907030 | EIF3A | c.2420A= (p.Tyr807=) | |
| 10 | g.119050575A>C | CA378286471 | EIF3A | c.2419T>G (p.Tyr807Asp) | |
| 10 | g.119050575A>G | CA378286472 | EIF3A | c.2419T>C (p.Tyr807His) | |
| 10 | g.119050575A>T | CA378286470 | EIF3A | c.2419T>A (p.Tyr807Asn) | |
| 10 | g.119050576G>A | CA471628852 | EIF3A | c.2418C>T (p.Tyr806=) | |
| 10 | g.119050576G>C | CA378286474 | EIF3A | c.2418C>G (p.Tyr806Ter) | |
| 10 | g.119050576G>T | CA378286475 | EIF3A | c.2418C>A (p.Tyr806Ter) | |
| 10 | g.119050577T>A | CA378286477 | EIF3A | c.2417A>T (p.Tyr806Phe) | gnomAD v4 |
| 10 | g.119050577T>C | CA378286479 | EIF3A | c.2417A>G (p.Tyr806Cys) | |
| 10 | g.119050577T>G | CA378286480 | EIF3A | c.2417A>C (p.Tyr806Ser) | |
| 10 | g.119050578_119050579del | CA2739291394 | EIF3A | c.2416_2417del (p.Tyr806LeufsTer2) | |
| 10 | g.119050578A>C | CA378286482 | EIF3A | c.2416T>G (p.Tyr806Asp) | |
| 10 | g.119050578A>G | CA378286483 | EIF3A | c.2416T>C (p.Tyr806His) | |
| 10 | g.119050578A>T | CA378286485 | EIF3A | c.2416T>A (p.Tyr806Asn) |