| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6473351_6473360delinsCTGCCGCTGG | CA1151503936 | PLEKHG5 | c.686_695delinsCCAGCGGCAG (p.Pro229=) c.860_869delinsCCAGCGGCAG (p.Pro287=) c.797_806delinsCCAGCGGCAG (p.Pro266=) n.1162_1171delinsCCAGCGGCAG c.893_902delinsCCAGCGGCAG (p.Pro298=) c.983_992delinsCCAGCGGCAG (p.Pro328=) c.*898_*907delinsCCAGCGGCAG (n.*898_*907delinsCCAGCGGCAG) c.*514_*523delinsCCAGCGGCAG (n.*514_*523delinsCCAGCGGCAG) c.917_926delinsCCAGCGGCAG (p.Pro306=) c.854_863delinsCCAGCGGCAG (p.Pro285=) c.923_932delinsCCAGCGGCAG (p.Pro308=) | |
| 1 | g.6473352_6473360del | CA1151503940 | PLEKHG5 | c.686_694del (p.Pro229_Ser232delinsArg) c.860_868del (p.Pro287_Ser290delinsArg) c.797_805del (p.Pro266_Ser269delinsArg) n.1162_1170del c.893_901del (p.Pro298_Ser301delinsArg) c.983_991del (p.Pro328_Ser331delinsArg) c.*898_*906del (n.*898_*906del) c.*514_*522del (n.*514_*522del) c.917_925del (p.Pro306_Ser309delinsArg) c.854_862del (p.Pro285_Ser288delinsArg) c.923_931del (p.Pro308_Ser311delinsArg) | dbSNP |
| 1 | g.6473355dup | CA2992174269 | PLEKHG5 | c.692dup (p.Ser232GlnfsTer?) c.866dup (p.Ser290GlnfsTer?) c.803dup (p.Ser269GlnfsTer?) n.1168dup c.899dup (p.Ser301GlnfsTer?) c.989dup (p.Ser331GlnfsTer?) c.*904dup (n.*904dup) c.*520dup (n.*520dup) c.923dup (p.Ser309GlnfsTer?) c.860dup (p.Ser288GlnfsTer?) c.929dup (p.Ser311GlnfsTer?) | |
| 1 | g.6473355C>A | CA338136952 | PLEKHG5 | c.691G>T (p.Gly231Cys) c.865G>T (p.Gly289Cys) c.802G>T (p.Gly268Cys) n.1167G>T c.898G>T (p.Gly300Cys) c.988G>T (p.Gly330Cys) c.*903G>T (n.*903G>T) c.*519G>T (n.*519G>T) c.922G>T (p.Gly308Cys) c.859G>T (p.Gly287Cys) c.928G>T (p.Gly310Cys) | |
| 1 | g.6473355C= | CA1142128480 | PLEKHG5 | c.691G= (p.Gly231=) c.865G= (p.Gly289=) c.802G= (p.Gly268=) n.1167G= c.898G= (p.Gly300=) c.988G= (p.Gly330=) c.*903G= (n.*903G=) c.*519G= (n.*519G=) c.922G= (p.Gly308=) c.859G= (p.Gly287=) c.928G= (p.Gly310=) | |
| 1 | g.6473355C>G | CA338136965 | PLEKHG5 | c.691G>C (p.Gly231Arg) c.865G>C (p.Gly289Arg) c.802G>C (p.Gly268Arg) n.1167G>C c.898G>C (p.Gly300Arg) c.988G>C (p.Gly330Arg) c.*903G>C (n.*903G>C) c.*519G>C (n.*519G>C) c.922G>C (p.Gly308Arg) c.859G>C (p.Gly287Arg) c.928G>C (p.Gly310Arg) | gnomAD v4 |
| 1 | g.6473355C>T | CA203666 | PLEKHG5 | c.691G>A (p.Gly231Ser) c.865G>A (p.Gly289Ser) c.802G>A (p.Gly268Ser) n.1167G>A c.898G>A (p.Gly300Ser) c.988G>A (p.Gly330Ser) c.*903G>A (n.*903G>A) c.*519G>A (n.*519G>A) c.922G>A (p.Gly308Ser) c.859G>A (p.Gly287Ser) c.928G>A (p.Gly310Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6473356G>A | CA17242334 | PLEKHG5 | c.690C>T (p.Ser230=) c.864C>T (p.Ser288=) c.801C>T (p.Ser267=) n.1166C>T c.897C>T (p.Ser299=) c.987C>T (p.Ser329=) c.*902C>T (n.*902C>T) c.*518C>T (n.*518C>T) c.921C>T (p.Ser307=) c.858C>T (p.Ser286=) c.927C>T (p.Ser309=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6473356G>C | CA338136968 | PLEKHG5 | c.690C>G (p.Ser230Arg) c.864C>G (p.Ser288Arg) c.801C>G (p.Ser267Arg) n.1166C>G c.897C>G (p.Ser299Arg) c.987C>G (p.Ser329Arg) c.*902C>G (n.*902C>G) c.*518C>G (n.*518C>G) c.921C>G (p.Ser307Arg) c.858C>G (p.Ser286Arg) c.927C>G (p.Ser309Arg) | |
| 1 | g.6473356G= | CA1143553509 | PLEKHG5 | c.690C= (p.Ser230=) c.864C= (p.Ser288=) c.801C= (p.Ser267=) n.1166C= c.897C= (p.Ser299=) c.987C= (p.Ser329=) c.*902C= (n.*902C=) c.*518C= (n.*518C=) c.921C= (p.Ser307=) c.858C= (p.Ser286=) c.927C= (p.Ser309=) | |
| 1 | g.6473356G>T | CA338136969 | PLEKHG5 | c.690C>A (p.Ser230Arg) c.864C>A (p.Ser288Arg) c.801C>A (p.Ser267Arg) n.1166C>A c.897C>A (p.Ser299Arg) c.987C>A (p.Ser329Arg) c.*902C>A (n.*902C>A) c.*518C>A (n.*518C>A) c.921C>A (p.Ser307Arg) c.858C>A (p.Ser286Arg) c.927C>A (p.Ser309Arg) | gnomAD v4 |
| 1 | g.6473357C>A | CA338136973 | PLEKHG5 | c.689G>T (p.Ser230Ile) c.863G>T (p.Ser288Ile) c.800G>T (p.Ser267Ile) n.1165G>T c.896G>T (p.Ser299Ile) c.986G>T (p.Ser329Ile) c.*901G>T (n.*901G>T) c.*517G>T (n.*517G>T) c.920G>T (p.Ser307Ile) c.857G>T (p.Ser286Ile) c.926G>T (p.Ser309Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6473357C= | CA1151503953 | PLEKHG5 | c.689G= (p.Ser230=) c.863G= (p.Ser288=) c.800G= (p.Ser267=) n.1165G= c.896G= (p.Ser299=) c.986G= (p.Ser329=) c.*901G= (n.*901G=) c.*517G= (n.*517G=) c.920G= (p.Ser307=) c.857G= (p.Ser286=) c.926G= (p.Ser309=) | |
| 1 | g.6473357C>G | CA338136981 | PLEKHG5 | c.689G>C (p.Ser230Thr) c.863G>C (p.Ser288Thr) c.800G>C (p.Ser267Thr) n.1165G>C c.896G>C (p.Ser299Thr) c.986G>C (p.Ser329Thr) c.*901G>C (n.*901G>C) c.*517G>C (n.*517G>C) c.920G>C (p.Ser307Thr) c.857G>C (p.Ser286Thr) c.926G>C (p.Ser309Thr) | |
| 1 | g.6473357C>T | CA338136986 | PLEKHG5 | c.689G>A (p.Ser230Asn) c.863G>A (p.Ser288Asn) c.800G>A (p.Ser267Asn) n.1165G>A c.896G>A (p.Ser299Asn) c.986G>A (p.Ser329Asn) c.*901G>A (n.*901G>A) c.*517G>A (n.*517G>A) c.920G>A (p.Ser307Asn) c.857G>A (p.Ser286Asn) c.926G>A (p.Ser309Asn) | |
| 1 | g.6473357dup | CA2992174291 | PLEKHG5 | c.689dup (p.Ser230ArgfsTer?) c.863dup (p.Ser288ArgfsTer?) c.800dup (p.Ser267ArgfsTer?) n.1165dup c.896dup (p.Ser299ArgfsTer?) c.986dup (p.Ser329ArgfsTer?) c.*901dup (n.*901dup) c.*517dup (n.*517dup) c.920dup (p.Ser307ArgfsTer?) c.857dup (p.Ser286ArgfsTer?) c.926dup (p.Ser309ArgfsTer?) | |
| 1 | g.6473357_6473358del | CA2992174290 | PLEKHG5 | c.688_689del (p.Ser230ArgfsTer?) c.862_863del (p.Ser288ArgfsTer?) c.799_800del (p.Ser267ArgfsTer?) n.1164_1165del c.895_896del (p.Ser299ArgfsTer?) c.985_986del (p.Ser329ArgfsTer?) c.*900_*901del (n.*900_*901del) c.*516_*517del (n.*516_*517del) c.919_920del (p.Ser307ArgfsTer?) c.856_857del (p.Ser286ArgfsTer?) c.925_926del (p.Ser309ArgfsTer?) | |
| 1 | g.6473358T>A | CA338136988 | PLEKHG5 | c.688A>T (p.Ser230Cys) c.862A>T (p.Ser288Cys) c.799A>T (p.Ser267Cys) n.1164A>T c.895A>T (p.Ser299Cys) c.985A>T (p.Ser329Cys) c.*900A>T (n.*900A>T) c.*516A>T (n.*516A>T) c.919A>T (p.Ser307Cys) c.856A>T (p.Ser286Cys) c.925A>T (p.Ser309Cys) | |
| 1 | g.6473358T>C | CA338136992 | PLEKHG5 | c.688A>G (p.Ser230Gly) c.862A>G (p.Ser288Gly) c.799A>G (p.Ser267Gly) n.1164A>G c.895A>G (p.Ser299Gly) c.985A>G (p.Ser329Gly) c.*900A>G (n.*900A>G) c.*516A>G (n.*516A>G) c.919A>G (p.Ser307Gly) c.856A>G (p.Ser286Gly) c.925A>G (p.Ser309Gly) | gnomAD v4 |
| 1 | g.6473358T>G | CA338136991 | PLEKHG5 | c.688A>C (p.Ser230Arg) c.862A>C (p.Ser288Arg) c.799A>C (p.Ser267Arg) n.1164A>C c.895A>C (p.Ser299Arg) c.985A>C (p.Ser329Arg) c.*900A>C (n.*900A>C) c.*516A>C (n.*516A>C) c.919A>C (p.Ser307Arg) c.856A>C (p.Ser286Arg) c.925A>C (p.Ser309Arg) | |
| 1 | g.6473358_6473359del | CA2992174293 | PLEKHG5 | c.687_688del (p.Ser230ArgfsTer?) c.861_862del (p.Ser288ArgfsTer?) c.798_799del (p.Ser267ArgfsTer?) n.1163_1164del c.894_895del (p.Ser299ArgfsTer?) c.984_985del (p.Ser329ArgfsTer?) c.*899_*900del (n.*899_*900del) c.*515_*516del (n.*515_*516del) c.918_919del (p.Ser307ArgfsTer?) c.855_856del (p.Ser286ArgfsTer?) c.924_925del (p.Ser309ArgfsTer?) | |
| 1 | g.6473359G>A | CA415833782 | PLEKHG5 | c.687C>T (p.Pro229=) c.861C>T (p.Pro287=) c.798C>T (p.Pro266=) n.1163C>T c.894C>T (p.Pro298=) c.984C>T (p.Pro328=) c.*899C>T (n.*899C>T) c.*515C>T (n.*515C>T) c.918C>T (p.Pro306=) c.855C>T (p.Pro285=) c.924C>T (p.Pro308=) | gnomAD v4 |
| 1 | g.6473359G>C | CA415833783 | PLEKHG5 | c.687C>G (p.Pro229=) c.861C>G (p.Pro287=) c.798C>G (p.Pro266=) n.1163C>G c.894C>G (p.Pro298=) c.984C>G (p.Pro328=) c.*899C>G (n.*899C>G) c.*515C>G (n.*515C>G) c.918C>G (p.Pro306=) c.855C>G (p.Pro285=) c.924C>G (p.Pro308=) | |
| 1 | g.6473359G>T | CA415833784 | PLEKHG5 | c.687C>A (p.Pro229=) c.861C>A (p.Pro287=) c.798C>A (p.Pro266=) n.1163C>A c.894C>A (p.Pro298=) c.984C>A (p.Pro328=) c.*899C>A (n.*899C>A) c.*515C>A (n.*515C>A) c.918C>A (p.Pro306=) c.855C>A (p.Pro285=) c.924C>A (p.Pro308=) | gnomAD v4 |
| 1 | g.6473360G>A | CA338136995 | PLEKHG5 | c.686C>T (p.Pro229Leu) c.860C>T (p.Pro287Leu) c.797C>T (p.Pro266Leu) n.1162C>T c.893C>T (p.Pro298Leu) c.983C>T (p.Pro328Leu) c.*898C>T (n.*898C>T) c.*514C>T (n.*514C>T) c.917C>T (p.Pro306Leu) c.854C>T (p.Pro285Leu) c.923C>T (p.Pro308Leu) | |
| 1 | g.6473360G>C | CA338136997 | PLEKHG5 | c.686C>G (p.Pro229Arg) c.860C>G (p.Pro287Arg) c.797C>G (p.Pro266Arg) n.1162C>G c.893C>G (p.Pro298Arg) c.983C>G (p.Pro328Arg) c.*898C>G (n.*898C>G) c.*514C>G (n.*514C>G) c.917C>G (p.Pro306Arg) c.854C>G (p.Pro285Arg) c.923C>G (p.Pro308Arg) | |
| 1 | g.6473360G>T | CA338136998 | PLEKHG5 | c.686C>A (p.Pro229His) c.860C>A (p.Pro287His) c.797C>A (p.Pro266His) n.1162C>A c.893C>A (p.Pro298His) c.983C>A (p.Pro328His) c.*898C>A (n.*898C>A) c.*514C>A (n.*514C>A) c.917C>A (p.Pro306His) c.854C>A (p.Pro285His) c.923C>A (p.Pro308His) | gnomAD v4 |
| 1 | g.6473360_6473411delinsGGCAGAGAGCAGCTGGAGGGCGTGGGGGGCTCCTGCCCGGGGATGCTCGCCT | CA1151503956 | PLEKHG5 | c.635_686delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu212=) c.809_860delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu270=) c.746_797delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu249=) n.1111_1162delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC c.842_893delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu281=) c.932_983delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu311=) c.*847_*898delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (n.*847_*898delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC) c.*463_*514delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (n.*463_*514delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC) c.866_917delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu289=) c.803_854delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu268=) c.872_923delinsAGGCGAGCATCCCCGGGCAGGAGCCCCCCACGCCCTCCAGCTGCTCTCTGCC (p.Glu291=) | |
| 1 | g.6473361G>A | CA338137002 | PLEKHG5 | c.685C>T (p.Pro229Ser) c.859C>T (p.Pro287Ser) c.796C>T (p.Pro266Ser) n.1161C>T c.892C>T (p.Pro298Ser) c.982C>T (p.Pro328Ser) c.*897C>T (n.*897C>T) c.*513C>T (n.*513C>T) c.916C>T (p.Pro306Ser) c.853C>T (p.Pro285Ser) c.922C>T (p.Pro308Ser) | gnomAD v4 |
| 1 | g.6473361G>C | CA338137004 | PLEKHG5 | c.685C>G (p.Pro229Ala) c.859C>G (p.Pro287Ala) c.796C>G (p.Pro266Ala) n.1161C>G c.892C>G (p.Pro298Ala) c.982C>G (p.Pro328Ala) c.*897C>G (n.*897C>G) c.*513C>G (n.*513C>G) c.916C>G (p.Pro306Ala) c.853C>G (p.Pro285Ala) c.922C>G (p.Pro308Ala) | |
| 1 | g.6473361G>T | CA338137006 | PLEKHG5 | c.685C>A (p.Pro229Thr) c.859C>A (p.Pro287Thr) c.796C>A (p.Pro266Thr) n.1161C>A c.892C>A (p.Pro298Thr) c.982C>A (p.Pro328Thr) c.*897C>A (n.*897C>A) c.*513C>A (n.*513C>A) c.916C>A (p.Pro306Thr) c.853C>A (p.Pro285Thr) c.922C>A (p.Pro308Thr) | gnomAD v4 |
| 1 | g.6473361_6473411del | CA521018931 | PLEKHG5 | c.635_685del (p.Glu212_Pro229delinsAla) c.809_859del (p.Glu270_Pro287delinsAla) c.746_796del (p.Glu249_Pro266delinsAla) n.1111_1161del c.842_892del (p.Glu281_Pro298delinsAla) c.932_982del (p.Glu311_Pro328delinsAla) c.*847_*897del (n.*847_*897del) c.*463_*513del (n.*463_*513del) c.866_916del (p.Glu289_Pro306delinsAla) c.803_853del (p.Glu268_Pro285delinsAla) c.872_922del (p.Glu291_Pro308delinsAla) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6473362C>A | CA415833785 | PLEKHG5 | c.684G>T (p.Leu228=) c.858G>T (p.Leu286=) c.795G>T (p.Leu265=) n.1160G>T c.891G>T (p.Leu297=) c.981G>T (p.Leu327=) c.*896G>T (n.*896G>T) c.*512G>T (n.*512G>T) c.915G>T (p.Leu305=) c.852G>T (p.Leu284=) c.921G>T (p.Leu307=) | |
| 1 | g.6473362C>G | CA415833786 | PLEKHG5 | c.684G>C (p.Leu228=) c.858G>C (p.Leu286=) c.795G>C (p.Leu265=) n.1160G>C c.891G>C (p.Leu297=) c.981G>C (p.Leu327=) c.*896G>C (n.*896G>C) c.*512G>C (n.*512G>C) c.915G>C (p.Leu305=) c.852G>C (p.Leu284=) c.921G>C (p.Leu307=) | |
| 1 | g.6473362C>T | CA415833787 | PLEKHG5 | c.684G>A (p.Leu228=) c.858G>A (p.Leu286=) c.795G>A (p.Leu265=) n.1160G>A c.891G>A (p.Leu297=) c.981G>A (p.Leu327=) c.*896G>A (n.*896G>A) c.*512G>A (n.*512G>A) c.915G>A (p.Leu305=) c.852G>A (p.Leu284=) c.921G>A (p.Leu307=) | gnomAD v4 |
| 1 | g.6473363A= | CA1151503963 | PLEKHG5 | c.683T= (p.Leu228=) c.857T= (p.Leu286=) c.794T= (p.Leu265=) n.1159T= c.890T= (p.Leu297=) c.980T= (p.Leu327=) c.*895T= (n.*895T=) c.*511T= (n.*511T=) c.914T= (p.Leu305=) c.851T= (p.Leu284=) c.920T= (p.Leu307=) | |
| 1 | g.6473363A>C | CA338137015 | PLEKHG5 | c.683T>G (p.Leu228Arg) c.857T>G (p.Leu286Arg) c.794T>G (p.Leu265Arg) n.1159T>G c.890T>G (p.Leu297Arg) c.980T>G (p.Leu327Arg) c.*895T>G (n.*895T>G) c.*511T>G (n.*511T>G) c.914T>G (p.Leu305Arg) c.851T>G (p.Leu284Arg) c.920T>G (p.Leu307Arg) | |
| 1 | g.6473363A>G | CA338137009 | PLEKHG5 | c.683T>C (p.Leu228Pro) c.857T>C (p.Leu286Pro) c.794T>C (p.Leu265Pro) n.1159T>C c.890T>C (p.Leu297Pro) c.980T>C (p.Leu327Pro) c.*895T>C (n.*895T>C) c.*511T>C (n.*511T>C) c.914T>C (p.Leu305Pro) c.851T>C (p.Leu284Pro) c.920T>C (p.Leu307Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6473363A>T | CA338137012 | PLEKHG5 | c.683T>A (p.Leu228Gln) c.857T>A (p.Leu286Gln) c.794T>A (p.Leu265Gln) n.1159T>A c.890T>A (p.Leu297Gln) c.980T>A (p.Leu327Gln) c.*895T>A (n.*895T>A) c.*511T>A (n.*511T>A) c.914T>A (p.Leu305Gln) c.851T>A (p.Leu284Gln) c.920T>A (p.Leu307Gln) | |
| 1 | g.6473364G>A | CA415833788 | PLEKHG5 | c.682C>T (p.Leu228=) c.856C>T (p.Leu286=) c.793C>T (p.Leu265=) n.1158C>T c.889C>T (p.Leu297=) c.979C>T (p.Leu327=) c.*894C>T (n.*894C>T) c.*510C>T (n.*510C>T) c.913C>T (p.Leu305=) c.850C>T (p.Leu284=) c.919C>T (p.Leu307=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6473364G>C | CA338137017 | PLEKHG5 | c.682C>G (p.Leu228Val) c.856C>G (p.Leu286Val) c.793C>G (p.Leu265Val) n.1158C>G c.889C>G (p.Leu297Val) c.979C>G (p.Leu327Val) c.*894C>G (n.*894C>G) c.*510C>G (n.*510C>G) c.913C>G (p.Leu305Val) c.850C>G (p.Leu284Val) c.919C>G (p.Leu307Val) | |
| 1 | g.6473364G= | CA1151503966 | PLEKHG5 | c.682C= (p.Leu228=) c.856C= (p.Leu286=) c.793C= (p.Leu265=) n.1158C= c.889C= (p.Leu297=) c.979C= (p.Leu327=) c.*894C= (n.*894C=) c.*510C= (n.*510C=) c.913C= (p.Leu305=) c.850C= (p.Leu284=) c.919C= (p.Leu307=) | |
| 1 | g.6473364G>T | CA338137018 | PLEKHG5 | c.682C>A (p.Leu228Met) c.856C>A (p.Leu286Met) c.793C>A (p.Leu265Met) n.1158C>A c.889C>A (p.Leu297Met) c.979C>A (p.Leu327Met) c.*894C>A (n.*894C>A) c.*510C>A (n.*510C>A) c.913C>A (p.Leu305Met) c.850C>A (p.Leu284Met) c.919C>A (p.Leu307Met) | gnomAD v4 |
| 1 | g.6473365A= | CA1151503969 | PLEKHG5 | c.681T= (p.Ser227=) c.855T= (p.Ser285=) c.792T= (p.Ser264=) n.1157T= c.888T= (p.Ser296=) c.978T= (p.Ser326=) c.*893T= (n.*893T=) c.*509T= (n.*509T=) c.912T= (p.Ser304=) c.849T= (p.Ser283=) c.918T= (p.Ser306=) | |
| 1 | g.6473365A>C | CA415833789 | PLEKHG5 | c.681T>G (p.Ser227=) c.855T>G (p.Ser285=) c.792T>G (p.Ser264=) n.1157T>G c.888T>G (p.Ser296=) c.978T>G (p.Ser326=) c.*893T>G (n.*893T>G) c.*509T>G (n.*509T>G) c.912T>G (p.Ser304=) c.849T>G (p.Ser283=) c.918T>G (p.Ser306=) | |
| 1 | g.6473365A>G | CA415833790 | PLEKHG5 | c.681T>C (p.Ser227=) c.855T>C (p.Ser285=) c.792T>C (p.Ser264=) n.1157T>C c.888T>C (p.Ser296=) c.978T>C (p.Ser326=) c.*893T>C (n.*893T>C) c.*509T>C (n.*509T>C) c.912T>C (p.Ser304=) c.849T>C (p.Ser283=) c.918T>C (p.Ser306=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6473365A>T | CA415833791 | PLEKHG5 | c.681T>A (p.Ser227=) c.855T>A (p.Ser285=) c.792T>A (p.Ser264=) n.1157T>A c.888T>A (p.Ser296=) c.978T>A (p.Ser326=) c.*893T>A (n.*893T>A) c.*509T>A (n.*509T>A) c.912T>A (p.Ser304=) c.849T>A (p.Ser283=) c.918T>A (p.Ser306=) | |
| 1 | g.6473366G>A | CA338137020 | PLEKHG5 | c.680C>T (p.Ser227Phe) c.854C>T (p.Ser285Phe) c.791C>T (p.Ser264Phe) n.1156C>T c.887C>T (p.Ser296Phe) c.977C>T (p.Ser326Phe) c.*892C>T (n.*892C>T) c.*508C>T (n.*508C>T) c.911C>T (p.Ser304Phe) c.848C>T (p.Ser283Phe) c.917C>T (p.Ser306Phe) | |
| 1 | g.6473366G>C | CA338137022 | PLEKHG5 | c.680C>G (p.Ser227Cys) c.854C>G (p.Ser285Cys) c.791C>G (p.Ser264Cys) n.1156C>G c.887C>G (p.Ser296Cys) c.977C>G (p.Ser326Cys) c.*892C>G (n.*892C>G) c.*508C>G (n.*508C>G) c.911C>G (p.Ser304Cys) c.848C>G (p.Ser283Cys) c.917C>G (p.Ser306Cys) | |
| 1 | g.6473366G>T | CA338137024 | PLEKHG5 | c.680C>A (p.Ser227Tyr) c.854C>A (p.Ser285Tyr) c.791C>A (p.Ser264Tyr) n.1156C>A c.887C>A (p.Ser296Tyr) c.977C>A (p.Ser326Tyr) c.*892C>A (n.*892C>A) c.*508C>A (n.*508C>A) c.911C>A (p.Ser304Tyr) c.848C>A (p.Ser283Tyr) c.917C>A (p.Ser306Tyr) | gnomAD v4 |