| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24081335_24081376dup | CA10581692 | NRL | c.586_627dup (p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.169_210dup (p.Ala70_Arg71insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.685_726dup (p.Ala242_Arg243insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.370_411dup (p.Ala137_Arg138insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.271_312dup (p.Ala104_Arg105insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.892_933dup (p.Ala311_Arg312insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.577_618dup (p.Ala206_Arg207insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) | ClinVar dbSNP |
| 14 | g.24081335_24081376del | CA2624298015 | NRL | c.586_627del (p.Ala196_Ala209del) c.169_210del (p.Ala57_Ala70del) c.685_726del (p.Ala229_Ala242del) c.370_411del (p.Ala124_Ala137del) c.271_312del (p.Ala91_Ala104del) c.892_933del (p.Ala298_Ala311del) c.577_618del (p.Ala193_Ala206del) | gnomAD v4 |
| 14 | g.24081345_24081386del | CA2624298089 | NRL | c.571_612del (p.Arg191_Glu204del) c.154_195del (p.Arg52_Glu65del) c.670_711del (p.Arg224_Glu237del) c.355_396del (p.Arg119_Glu132del) c.256_297del (p.Arg86_Glu99del) c.877_918del (p.Arg293_Glu306del) c.562_603del (p.Arg188_Glu201del) | gnomAD v4 |
| 14 | g.24081370_24081389dup | CA2624298208 | NRL | c.561_580dup (p.Leu194ArgfsTer36) c.144_163dup (p.Leu55ArgfsTer36) c.660_679dup (p.Leu227ArgfsTer36) c.345_364dup (p.Leu122ArgfsTer36) c.246_265dup (p.Leu89ArgfsTer36) c.867_886dup (p.Leu296ArgfsTer36) c.552_571dup (p.Leu191ArgfsTer36) | gnomAD v4 |
| 14 | g.24081371G>A | CA485775722 | NRL | c.579C>T (p.Arg193=) c.162C>T (p.Arg54=) c.678C>T (p.Arg226=) c.363C>T (p.Arg121=) c.264C>T (p.Arg88=) c.885C>T (p.Arg295=) c.570C>T (p.Arg190=) | dbSNP gnomAD v4 |
| 14 | g.24081371G>C | CA485775723 | NRL | c.579C>G (p.Arg193=) c.162C>G (p.Arg54=) c.678C>G (p.Arg226=) c.363C>G (p.Arg121=) c.264C>G (p.Arg88=) c.885C>G (p.Arg295=) c.570C>G (p.Arg190=) | |
| 14 | g.24081371G>T | CA485775724 | NRL | c.579C>A (p.Arg193=) c.162C>A (p.Arg54=) c.678C>A (p.Arg226=) c.363C>A (p.Arg121=) c.264C>A (p.Arg88=) c.885C>A (p.Arg295=) c.570C>A (p.Arg190=) | gnomAD v4 |
| 14 | g.24081372del | CA2624298220 | NRL | c.578del (p.Arg193ProfsTer30) c.161del (p.Arg54ProfsTer30) c.677del (p.Arg226ProfsTer30) c.362del (p.Arg121ProfsTer30) c.263del (p.Arg88ProfsTer30) c.884del (p.Arg295ProfsTer30) c.569del (p.Arg190ProfsTer30) | gnomAD v4 |
| 14 | g.24081372C>A | CA389277266 | NRL | c.578G>T (p.Arg193Leu) c.161G>T (p.Arg54Leu) c.677G>T (p.Arg226Leu) c.362G>T (p.Arg121Leu) c.263G>T (p.Arg88Leu) c.884G>T (p.Arg295Leu) c.569G>T (p.Arg190Leu) | gnomAD v4 |
| 14 | g.24081372C= | CA2123777475 | NRL | c.578G= (p.Arg193=) c.161G= (p.Arg54=) c.677G= (p.Arg226=) c.362G= (p.Arg121=) c.263G= (p.Arg88=) c.884G= (p.Arg295=) c.569G= (p.Arg190=) | |
| 14 | g.24081372C>G | CA389277291 | NRL | c.578G>C (p.Arg193Pro) c.161G>C (p.Arg54Pro) c.677G>C (p.Arg226Pro) c.362G>C (p.Arg121Pro) c.263G>C (p.Arg88Pro) c.884G>C (p.Arg295Pro) c.569G>C (p.Arg190Pro) | |
| 14 | g.24081372C>T | CA389277305 | NRL | c.578G>A (p.Arg193His) c.161G>A (p.Arg54His) c.677G>A (p.Arg226His) c.362G>A (p.Arg121His) c.263G>A (p.Arg88His) c.884G>A (p.Arg295His) c.569G>A (p.Arg190His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081373G>A | CA7122821 | NRL | c.577C>T (p.Arg193Cys) c.160C>T (p.Arg54Cys) c.676C>T (p.Arg226Cys) c.361C>T (p.Arg121Cys) c.262C>T (p.Arg88Cys) c.883C>T (p.Arg295Cys) c.568C>T (p.Arg190Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081373G>C | CA389277314 | NRL | c.577C>G (p.Arg193Gly) c.160C>G (p.Arg54Gly) c.676C>G (p.Arg226Gly) c.361C>G (p.Arg121Gly) c.262C>G (p.Arg88Gly) c.883C>G (p.Arg295Gly) c.568C>G (p.Arg190Gly) | |
| 14 | g.24081373G= | CA2123777483 | NRL | c.577C= (p.Arg193=) c.160C= (p.Arg54=) c.676C= (p.Arg226=) c.361C= (p.Arg121=) c.262C= (p.Arg88=) c.883C= (p.Arg295=) c.568C= (p.Arg190=) | |
| 14 | g.24081373G>T | CA389277310 | NRL | c.577C>A (p.Arg193Ser) c.160C>A (p.Arg54Ser) c.676C>A (p.Arg226Ser) c.361C>A (p.Arg121Ser) c.262C>A (p.Arg88Ser) c.883C>A (p.Arg295Ser) c.568C>A (p.Arg190Ser) | gnomAD v4 |
| 14 | g.24081374G>A | CA485775730 | NRL | c.576C>T (p.Ala192=) c.159C>T (p.Ala53=) c.675C>T (p.Ala225=) c.360C>T (p.Ala120=) c.261C>T (p.Ala87=) c.882C>T (p.Ala294=) c.567C>T (p.Ala189=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081374G>C | CA485775731 | NRL | c.576C>G (p.Ala192=) c.159C>G (p.Ala53=) c.675C>G (p.Ala225=) c.360C>G (p.Ala120=) c.261C>G (p.Ala87=) c.882C>G (p.Ala294=) c.567C>G (p.Ala189=) | |
| 14 | g.24081374G= | CA2123777492 | NRL | c.576C= (p.Ala192=) c.159C= (p.Ala53=) c.675C= (p.Ala225=) c.360C= (p.Ala120=) c.261C= (p.Ala87=) c.882C= (p.Ala294=) c.567C= (p.Ala189=) | |
| 14 | g.24081374G>T | CA485775732 | NRL | c.576C>A (p.Ala192=) c.159C>A (p.Ala53=) c.675C>A (p.Ala225=) c.360C>A (p.Ala120=) c.261C>A (p.Ala87=) c.882C>A (p.Ala294=) c.567C>A (p.Ala189=) | gnomAD v4 |
| 14 | g.24081375G>A | CA389277324 | NRL | c.575C>T (p.Ala192Val) c.158C>T (p.Ala53Val) c.674C>T (p.Ala225Val) c.359C>T (p.Ala120Val) c.260C>T (p.Ala87Val) c.881C>T (p.Ala294Val) c.566C>T (p.Ala189Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081375G>C | CA389277329 | NRL | c.575C>G (p.Ala192Gly) c.158C>G (p.Ala53Gly) c.674C>G (p.Ala225Gly) c.359C>G (p.Ala120Gly) c.260C>G (p.Ala87Gly) c.881C>G (p.Ala294Gly) c.566C>G (p.Ala189Gly) | gnomAD v4 |
| 14 | g.24081375G= | CA2123777498 | NRL | c.575C= (p.Ala192=) c.158C= (p.Ala53=) c.674C= (p.Ala225=) c.359C= (p.Ala120=) c.260C= (p.Ala87=) c.881C= (p.Ala294=) c.566C= (p.Ala189=) | |
| 14 | g.24081375G>T | CA389277331 | NRL | c.575C>A (p.Ala192Asp) c.158C>A (p.Ala53Asp) c.674C>A (p.Ala225Asp) c.359C>A (p.Ala120Asp) c.260C>A (p.Ala87Asp) c.881C>A (p.Ala294Asp) c.566C>A (p.Ala189Asp) | |
| 14 | g.24081376C>A | CA389277337 | NRL | c.574G>T (p.Ala192Ser) c.157G>T (p.Ala53Ser) c.673G>T (p.Ala225Ser) c.358G>T (p.Ala120Ser) c.259G>T (p.Ala87Ser) c.880G>T (p.Ala294Ser) c.565G>T (p.Ala189Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081376C= | CA2123777507 | NRL | c.574G= (p.Ala192=) c.157G= (p.Ala53=) c.673G= (p.Ala225=) c.358G= (p.Ala120=) c.259G= (p.Ala87=) c.880G= (p.Ala294=) c.565G= (p.Ala189=) | |
| 14 | g.24081376C>G | CA389277343 | NRL | c.574G>C (p.Ala192Pro) c.157G>C (p.Ala53Pro) c.673G>C (p.Ala225Pro) c.358G>C (p.Ala120Pro) c.259G>C (p.Ala87Pro) c.880G>C (p.Ala294Pro) c.565G>C (p.Ala189Pro) | gnomAD v4 |
| 14 | g.24081376C>T | CA257868073 | NRL | c.574G>A (p.Ala192Thr) c.157G>A (p.Ala53Thr) c.673G>A (p.Ala225Thr) c.358G>A (p.Ala120Thr) c.259G>A (p.Ala87Thr) c.880G>A (p.Ala294Thr) c.565G>A (p.Ala189Thr) | dbSNP gnomAD v4 |
| 14 | g.24081377G>A | CA485775736 | NRL | c.573C>T (p.Arg191=) c.156C>T (p.Arg52=) c.672C>T (p.Arg224=) c.357C>T (p.Arg119=) c.258C>T (p.Arg86=) c.879C>T (p.Arg293=) c.564C>T (p.Arg188=) | gnomAD v4 |
| 14 | g.24081377G>C | CA485775737 | NRL | c.573C>G (p.Arg191=) c.156C>G (p.Arg52=) c.672C>G (p.Arg224=) c.357C>G (p.Arg119=) c.258C>G (p.Arg86=) c.879C>G (p.Arg293=) c.564C>G (p.Arg188=) | |
| 14 | g.24081377G>T | CA485775738 | NRL | c.573C>A (p.Arg191=) c.156C>A (p.Arg52=) c.672C>A (p.Arg224=) c.357C>A (p.Arg119=) c.258C>A (p.Arg86=) c.879C>A (p.Arg293=) c.564C>A (p.Arg188=) | |
| 14 | g.24081378C>A | CA389277345 | NRL | c.572G>T (p.Arg191Leu) c.155G>T (p.Arg52Leu) c.671G>T (p.Arg224Leu) c.356G>T (p.Arg119Leu) c.257G>T (p.Arg86Leu) c.878G>T (p.Arg293Leu) c.563G>T (p.Arg188Leu) | gnomAD v4 |
| 14 | g.24081378C>G | CA389277356 | NRL | c.572G>C (p.Arg191Pro) c.155G>C (p.Arg52Pro) c.671G>C (p.Arg224Pro) c.356G>C (p.Arg119Pro) c.257G>C (p.Arg86Pro) c.878G>C (p.Arg293Pro) c.563G>C (p.Arg188Pro) | |
| 14 | g.24081378C>T | CA389277360 | NRL | c.572G>A (p.Arg191His) c.155G>A (p.Arg52His) c.671G>A (p.Arg224His) c.356G>A (p.Arg119His) c.257G>A (p.Arg86His) c.878G>A (p.Arg293His) c.563G>A (p.Arg188His) | gnomAD v4 |
| 14 | g.24081378_24081379insCCCACGGT | CA2624298250 | NRL | c.571_572insACCGTGGG (p.Arg191HisfsTer?) c.154_155insACCGTGGG (p.Arg52HisfsTer?) c.670_671insACCGTGGG (p.Arg224HisfsTer?) c.355_356insACCGTGGG (p.Arg119HisfsTer?) c.256_257insACCGTGGG (p.Arg86HisfsTer?) c.877_878insACCGTGGG (p.Arg293HisfsTer?) c.562_563insACCGTGGG (p.Arg188HisfsTer?) | gnomAD v4 |
| 14 | g.24081379G>A | CA389277363 | NRL | c.571C>T (p.Arg191Cys) c.154C>T (p.Arg52Cys) c.670C>T (p.Arg224Cys) c.355C>T (p.Arg119Cys) c.256C>T (p.Arg86Cys) c.877C>T (p.Arg293Cys) c.562C>T (p.Arg188Cys) | gnomAD v4 |
| 14 | g.24081379G>C | CA389277368 | NRL | c.571C>G (p.Arg191Gly) c.154C>G (p.Arg52Gly) c.670C>G (p.Arg224Gly) c.355C>G (p.Arg119Gly) c.256C>G (p.Arg86Gly) c.877C>G (p.Arg293Gly) c.562C>G (p.Arg188Gly) | |
| 14 | g.24081379G>T | CA389277370 | NRL | c.571C>A (p.Arg191Ser) c.154C>A (p.Arg52Ser) c.670C>A (p.Arg224Ser) c.355C>A (p.Arg119Ser) c.256C>A (p.Arg86Ser) c.877C>A (p.Arg293Ser) c.562C>A (p.Arg188Ser) | gnomAD v4 |
| 14 | g.24081380C>A | CA389277373 | NRL | c.570G>T (p.Glu190Asp) c.153G>T (p.Glu51Asp) c.669G>T (p.Glu223Asp) c.354G>T (p.Glu118Asp) c.255G>T (p.Glu85Asp) c.876G>T (p.Glu292Asp) c.561G>T (p.Glu187Asp) | gnomAD v4 |
| 14 | g.24081380C>G | CA389277372 | NRL | c.570G>C (p.Glu190Asp) c.153G>C (p.Glu51Asp) c.669G>C (p.Glu223Asp) c.354G>C (p.Glu118Asp) c.255G>C (p.Glu85Asp) c.876G>C (p.Glu292Asp) c.561G>C (p.Glu187Asp) | gnomAD v4 |
| 14 | g.24081380C>T | CA485775743 | NRL | c.570G>A (p.Glu190=) c.153G>A (p.Glu51=) c.669G>A (p.Glu223=) c.354G>A (p.Glu118=) c.255G>A (p.Glu85=) c.876G>A (p.Glu292=) c.561G>A (p.Glu187=) | |
| 14 | g.24081381T>A | CA389277374 | NRL | c.569A>T (p.Glu190Val) c.152A>T (p.Glu51Val) c.668A>T (p.Glu223Val) c.353A>T (p.Glu118Val) c.254A>T (p.Glu85Val) c.875A>T (p.Glu292Val) c.560A>T (p.Glu187Val) | gnomAD v4 |
| 14 | g.24081381T>C | CA389277378 | NRL | c.569A>G (p.Glu190Gly) c.152A>G (p.Glu51Gly) c.668A>G (p.Glu223Gly) c.353A>G (p.Glu118Gly) c.254A>G (p.Glu85Gly) c.875A>G (p.Glu292Gly) c.560A>G (p.Glu187Gly) | dbSNP gnomAD v4 |
| 14 | g.24081381T>G | CA389277385 | NRL | c.569A>C (p.Glu190Ala) c.152A>C (p.Glu51Ala) c.668A>C (p.Glu223Ala) c.353A>C (p.Glu118Ala) c.254A>C (p.Glu85Ala) c.875A>C (p.Glu292Ala) c.560A>C (p.Glu187Ala) | |
| 14 | g.24081382C>A | CA389277390 | NRL | c.568G>T (p.Glu190Ter) c.151G>T (p.Glu51Ter) c.667G>T (p.Glu223Ter) c.352G>T (p.Glu118Ter) c.253G>T (p.Glu85Ter) c.874G>T (p.Glu292Ter) c.559G>T (p.Glu187Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081382C= | CA2123777511 | NRL | c.568G= (p.Glu190=) c.151G= (p.Glu51=) c.667G= (p.Glu223=) c.352G= (p.Glu118=) c.253G= (p.Glu85=) c.874G= (p.Glu292=) c.559G= (p.Glu187=) | |
| 14 | g.24081382C>G | CA389277401 | NRL | c.568G>C (p.Glu190Gln) c.151G>C (p.Glu51Gln) c.667G>C (p.Glu223Gln) c.352G>C (p.Glu118Gln) c.253G>C (p.Glu85Gln) c.874G>C (p.Glu292Gln) c.559G>C (p.Glu187Gln) | gnomAD v4 |
| 14 | g.24081382C>T | CA389277402 | NRL | c.568G>A (p.Glu190Lys) c.151G>A (p.Glu51Lys) c.667G>A (p.Glu223Lys) c.352G>A (p.Glu118Lys) c.253G>A (p.Glu85Lys) c.874G>A (p.Glu292Lys) c.559G>A (p.Glu187Lys) | gnomAD v4 |
| 14 | g.24081383G>A | CA485775750 | NRL | c.567C>T (p.Ala189=) c.150C>T (p.Ala50=) c.666C>T (p.Ala222=) c.351C>T (p.Ala117=) c.252C>T (p.Ala84=) c.873C>T (p.Ala291=) c.558C>T (p.Ala186=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081383G>C | CA485775748 | NRL | c.567C>G (p.Ala189=) c.150C>G (p.Ala50=) c.666C>G (p.Ala222=) c.351C>G (p.Ala117=) c.252C>G (p.Ala84=) c.873C>G (p.Ala291=) c.558C>G (p.Ala186=) | dbSNP gnomAD v4 |