Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.103100363G>A | CA488193667 | EXOC3L4 | c.144G>A (p.Leu48=) c.36G>A (p.Leu12=) c.318G>A (p.Leu106=) c.255G>A (p.Leu85=) n.873G>A n.900G>A | |
14 | g.103100363G>C | CA488193669 | EXOC3L4 | c.144G>C (p.Leu48=) c.36G>C (p.Leu12=) c.318G>C (p.Leu106=) c.255G>C (p.Leu85=) n.873G>C n.900G>C | |
14 | g.103100363G>T | CA488193671 | EXOC3L4 | c.144G>T (p.Leu48=) c.36G>T (p.Leu12=) c.318G>T (p.Leu106=) c.255G>T (p.Leu85=) n.873G>T n.900G>T | |
14 | g.103100364G>A | CA7361809 | EXOC3L4 | c.145G>A (p.Gly49Ser) c.37G>A (p.Gly13Ser) c.319G>A (p.Gly107Ser) c.256G>A (p.Gly86Ser) n.874G>A n.901G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100364G>C | CA391081164 | EXOC3L4 | c.145G>C (p.Gly49Arg) c.37G>C (p.Gly13Arg) c.319G>C (p.Gly107Arg) c.256G>C (p.Gly86Arg) n.874G>C n.901G>C | |
14 | g.103100364G= | CA2160140027 | EXOC3L4 | c.145G= (p.Gly49=) c.37G= (p.Gly13=) c.319G= (p.Gly107=) c.256G= (p.Gly86=) n.874G= n.901G= | |
14 | g.103100364G>T | CA391081167 | EXOC3L4 | c.145G>T (p.Gly49Cys) c.37G>T (p.Gly13Cys) c.319G>T (p.Gly107Cys) c.256G>T (p.Gly86Cys) n.874G>T n.901G>T | |
14 | g.103100365G>A | CA391081169 | EXOC3L4 | c.146G>A (p.Gly49Asp) c.38G>A (p.Gly13Asp) c.320G>A (p.Gly107Asp) c.257G>A (p.Gly86Asp) n.875G>A n.902G>A | |
14 | g.103100365G>C | CA391081171 | EXOC3L4 | c.146G>C (p.Gly49Ala) c.38G>C (p.Gly13Ala) c.320G>C (p.Gly107Ala) c.257G>C (p.Gly86Ala) n.875G>C n.902G>C | |
14 | g.103100365G>T | CA391081173 | EXOC3L4 | c.146G>T (p.Gly49Val) c.38G>T (p.Gly13Val) c.320G>T (p.Gly107Val) c.257G>T (p.Gly86Val) n.875G>T n.902G>T | |
14 | g.103100366C>A | CA488193683 | EXOC3L4 | c.147C>A (p.Gly49=) c.39C>A (p.Gly13=) c.321C>A (p.Gly107=) c.258C>A (p.Gly86=) n.876C>A n.903C>A | |
14 | g.103100366C>G | CA488193684 | EXOC3L4 | c.147C>G (p.Gly49=) c.39C>G (p.Gly13=) c.321C>G (p.Gly107=) c.258C>G (p.Gly86=) n.876C>G n.903C>G | |
14 | g.103100366C>T | CA488193685 | EXOC3L4 | c.147C>T (p.Gly49=) c.39C>T (p.Gly13=) c.321C>T (p.Gly107=) c.258C>T (p.Gly86=) n.876C>T n.903C>T | |
14 | g.103100367C>A | CA391081178 | EXOC3L4 | c.148C>A (p.Leu50Met) c.40C>A (p.Leu14Met) c.322C>A (p.Leu108Met) c.259C>A (p.Leu87Met) n.877C>A n.904C>A | |
14 | g.103100367C>G | CA391081176 | EXOC3L4 | c.148C>G (p.Leu50Val) c.40C>G (p.Leu14Val) c.322C>G (p.Leu108Val) c.259C>G (p.Leu87Val) n.877C>G n.904C>G | |
14 | g.103100367C>T | CA488193690 | EXOC3L4 | c.148C>T (p.Leu50=) c.40C>T (p.Leu14=) c.322C>T (p.Leu108=) c.259C>T (p.Leu87=) n.877C>T n.904C>T | |
14 | g.103100368T>A | CA391081181 | EXOC3L4 | c.149T>A (p.Leu50Gln) c.41T>A (p.Leu14Gln) c.323T>A (p.Leu108Gln) c.260T>A (p.Leu87Gln) n.878T>A n.905T>A | |
14 | g.103100368T>C | CA391081183 | EXOC3L4 | c.149T>C (p.Leu50Pro) c.41T>C (p.Leu14Pro) c.323T>C (p.Leu108Pro) c.260T>C (p.Leu87Pro) n.878T>C n.905T>C | |
14 | g.103100368T>G | CA391081184 | EXOC3L4 | c.149T>G (p.Leu50Arg) c.41T>G (p.Leu14Arg) c.323T>G (p.Leu108Arg) c.260T>G (p.Leu87Arg) n.878T>G n.905T>G | gnomAD v4 |
14 | g.103100369G>A | CA488193694 | EXOC3L4 | c.150G>A (p.Leu50=) c.42G>A (p.Leu14=) c.324G>A (p.Leu108=) c.261G>A (p.Leu87=) n.879G>A n.906G>A | |
14 | g.103100369G>C | CA488193701 | EXOC3L4 | c.150G>C (p.Leu50=) c.42G>C (p.Leu14=) c.324G>C (p.Leu108=) c.261G>C (p.Leu87=) n.879G>C n.906G>C | gnomAD v4 |
14 | g.103100369G>T | CA488193699 | EXOC3L4 | c.150G>T (p.Leu50=) c.42G>T (p.Leu14=) c.324G>T (p.Leu108=) c.261G>T (p.Leu87=) n.879G>T n.906G>T | |
14 | g.103100370G>A | CA391081187 | EXOC3L4 | c.151G>A (p.Gly51Ser) c.43G>A (p.Gly15Ser) c.325G>A (p.Gly109Ser) c.262G>A (p.Gly88Ser) n.880G>A n.907G>A | |
14 | g.103100370G>C | CA391081189 | EXOC3L4 | c.151G>C (p.Gly51Arg) c.43G>C (p.Gly15Arg) c.325G>C (p.Gly109Arg) c.262G>C (p.Gly88Arg) n.880G>C n.907G>C | |
14 | g.103100370G>T | CA391081191 | EXOC3L4 | c.151G>T (p.Gly51Cys) c.43G>T (p.Gly15Cys) c.325G>T (p.Gly109Cys) c.262G>T (p.Gly88Cys) n.880G>T n.907G>T | |
14 | g.103100371G>A | CA391081193 | EXOC3L4 | c.152G>A (p.Gly51Asp) c.44G>A (p.Gly15Asp) c.326G>A (p.Gly109Asp) c.263G>A (p.Gly88Asp) n.881G>A n.908G>A | gnomAD v4 |
14 | g.103100371G>C | CA391081197 | EXOC3L4 | c.152G>C (p.Gly51Ala) c.44G>C (p.Gly15Ala) c.326G>C (p.Gly109Ala) c.263G>C (p.Gly88Ala) n.881G>C n.908G>C | |
14 | g.103100371G>T | CA391081195 | EXOC3L4 | c.152G>T (p.Gly51Val) c.44G>T (p.Gly15Val) c.326G>T (p.Gly109Val) c.263G>T (p.Gly88Val) n.881G>T n.908G>T | |
14 | g.103100372C>A | CA488193704 | EXOC3L4 | c.153C>A (p.Gly51=) c.45C>A (p.Gly15=) c.327C>A (p.Gly109=) c.264C>A (p.Gly88=) n.882C>A n.909C>A | gnomAD v4 |
14 | g.103100372C= | CA2160140028 | EXOC3L4 | c.153C= (p.Gly51=) c.45C= (p.Gly15=) c.327C= (p.Gly109=) c.264C= (p.Gly88=) n.882C= n.909C= | |
14 | g.103100372C>G | CA488193707 | EXOC3L4 | c.153C>G (p.Gly51=) c.45C>G (p.Gly15=) c.327C>G (p.Gly109=) c.264C>G (p.Gly88=) n.882C>G n.909C>G | |
14 | g.103100372C>T | CA488193710 | EXOC3L4 | c.153C>T (p.Gly51=) c.45C>T (p.Gly15=) c.327C>T (p.Gly109=) c.264C>T (p.Gly88=) n.882C>T n.909C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100373T>A | CA391081199 | EXOC3L4 | c.154T>A (p.Ser52Thr) c.46T>A (p.Ser16Thr) c.328T>A (p.Ser110Thr) c.265T>A (p.Ser89Thr) n.883T>A n.910T>A | gnomAD v4 |
14 | g.103100373T>C | CA391081201 | EXOC3L4 | c.154T>C (p.Ser52Pro) c.46T>C (p.Ser16Pro) c.328T>C (p.Ser110Pro) c.265T>C (p.Ser89Pro) n.883T>C n.910T>C | |
14 | g.103100373T>G | CA7361810 | EXOC3L4 | c.154T>G (p.Ser52Ala) c.46T>G (p.Ser16Ala) c.328T>G (p.Ser110Ala) c.265T>G (p.Ser89Ala) n.883T>G n.910T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100373T= | CA2160140029 | EXOC3L4 | c.154T= (p.Ser52=) c.46T= (p.Ser16=) c.328T= (p.Ser110=) c.265T= (p.Ser89=) n.883T= n.910T= | |
14 | g.103100374C>A | CA391081204 | EXOC3L4 | c.155C>A (p.Ser52Tyr) c.47C>A (p.Ser16Tyr) c.329C>A (p.Ser110Tyr) c.266C>A (p.Ser89Tyr) n.884C>A n.911C>A | |
14 | g.103100374C>G | CA391081207 | EXOC3L4 | c.155C>G (p.Ser52Cys) c.47C>G (p.Ser16Cys) c.329C>G (p.Ser110Cys) c.266C>G (p.Ser89Cys) n.884C>G n.911C>G | |
14 | g.103100374C>T | CA391081209 | EXOC3L4 | c.155C>T (p.Ser52Phe) c.47C>T (p.Ser16Phe) c.329C>T (p.Ser110Phe) c.266C>T (p.Ser89Phe) n.884C>T n.911C>T | |
14 | g.103100375C>A | CA488193715 | EXOC3L4 | c.156C>A (p.Ser52=) c.48C>A (p.Ser16=) c.330C>A (p.Ser110=) c.267C>A (p.Ser89=) n.885C>A n.912C>A | |
14 | g.103100375C= | CA2160140030 | EXOC3L4 | c.156C= (p.Ser52=) c.48C= (p.Ser16=) c.330C= (p.Ser110=) c.267C= (p.Ser89=) n.885C= n.912C= | |
14 | g.103100375C>G | CA488193716 | EXOC3L4 | c.156C>G (p.Ser52=) c.48C>G (p.Ser16=) c.330C>G (p.Ser110=) c.267C>G (p.Ser89=) n.885C>G n.912C>G | dbSNP |
14 | g.103100375C>T | CA488193718 | EXOC3L4 | c.156C>T (p.Ser52=) c.48C>T (p.Ser16=) c.330C>T (p.Ser110=) c.267C>T (p.Ser89=) n.885C>T n.912C>T | |
14 | g.103100376C>A | CA391081211 | EXOC3L4 | c.157C>A (p.Leu53Met) c.49C>A (p.Leu17Met) c.331C>A (p.Leu111Met) c.268C>A (p.Leu90Met) n.886C>A n.913C>A | |
14 | g.103100376C>G | CA391081213 | EXOC3L4 | c.157C>G (p.Leu53Val) c.49C>G (p.Leu17Val) c.331C>G (p.Leu111Val) c.268C>G (p.Leu90Val) n.886C>G n.913C>G | |
14 | g.103100376C>T | CA488193721 | EXOC3L4 | c.157C>T (p.Leu53=) c.49C>T (p.Leu17=) c.331C>T (p.Leu111=) c.268C>T (p.Leu90=) n.886C>T n.913C>T | COSMIC |
14 | g.103100377T>A | CA391081217 | EXOC3L4 | c.158T>A (p.Leu53Gln) c.50T>A (p.Leu17Gln) c.332T>A (p.Leu111Gln) c.269T>A (p.Leu90Gln) n.887T>A n.914T>A | |
14 | g.103100377T>C | CA391081219 | EXOC3L4 | c.158T>C (p.Leu53Pro) c.50T>C (p.Leu17Pro) c.332T>C (p.Leu111Pro) c.269T>C (p.Leu90Pro) n.887T>C n.914T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100377T>G | CA391081221 | EXOC3L4 | c.158T>G (p.Leu53Arg) c.50T>G (p.Leu17Arg) c.332T>G (p.Leu111Arg) c.269T>G (p.Leu90Arg) n.887T>G n.914T>G | |
14 | g.103100377T= | CA2160140031 | EXOC3L4 | c.158T= (p.Leu53=) c.50T= (p.Leu17=) c.332T= (p.Leu111=) c.269T= (p.Leu90=) n.887T= n.914T= | |
14 | g.103100378G>A | CA488193725 | EXOC3L4 | c.159G>A (p.Leu53=) c.51G>A (p.Leu17=) c.333G>A (p.Leu111=) c.270G>A (p.Leu90=) n.888G>A n.915G>A | COSMIC |
14 | g.103100378G>C | CA267170799 | EXOC3L4 | c.159G>C (p.Leu53=) c.51G>C (p.Leu17=) c.333G>C (p.Leu111=) c.270G>C (p.Leu90=) n.888G>C n.915G>C | dbSNP |
14 | g.103100378G= | CA2160140032 | EXOC3L4 | c.159G= (p.Leu53=) c.51G= (p.Leu17=) c.333G= (p.Leu111=) c.270G= (p.Leu90=) n.888G= n.915G= | |
14 | g.103100378G>T | CA488193726 | EXOC3L4 | c.159G>T (p.Leu53=) c.51G>T (p.Leu17=) c.333G>T (p.Leu111=) c.270G>T (p.Leu90=) n.888G>T n.915G>T | |
14 | g.103100379A>C | CA488193727 | EXOC3L4 | c.160A>C (p.Arg54=) c.52A>C (p.Arg18=) c.334A>C (p.Arg112=) c.271A>C (p.Arg91=) n.889A>C n.916A>C | |
14 | g.103100379A>G | CA391081223 | EXOC3L4 | c.160A>G (p.Arg54Gly) c.52A>G (p.Arg18Gly) c.334A>G (p.Arg112Gly) c.271A>G (p.Arg91Gly) n.889A>G n.916A>G | |
14 | g.103100379A>T | CA391081225 | EXOC3L4 | c.160A>T (p.Arg54Trp) c.52A>T (p.Arg18Trp) c.334A>T (p.Arg112Trp) c.271A>T (p.Arg91Trp) n.889A>T n.916A>T | |
14 | g.103100380G>A | CA391081227 | EXOC3L4 | c.161G>A (p.Arg54Lys) c.53G>A (p.Arg18Lys) c.335G>A (p.Arg112Lys) c.272G>A (p.Arg91Lys) n.890G>A n.917G>A | dbSNP gnomAD v4 |
14 | g.103100380G>C | CA391081230 | EXOC3L4 | c.161G>C (p.Arg54Thr) c.53G>C (p.Arg18Thr) c.335G>C (p.Arg112Thr) c.272G>C (p.Arg91Thr) n.890G>C n.917G>C | |
14 | g.103100380G= | CA2160140033 | EXOC3L4 | c.161G= (p.Arg54=) c.53G= (p.Arg18=) c.335G= (p.Arg112=) c.272G= (p.Arg91=) n.890G= n.917G= | |
14 | g.103100380G>T | CA391081229 | EXOC3L4 | c.161G>T (p.Arg54Met) c.53G>T (p.Arg18Met) c.335G>T (p.Arg112Met) c.272G>T (p.Arg91Met) n.890G>T n.917G>T | |
14 | g.103100381G>A | CA7361811 | EXOC3L4 | c.162G>A (p.Arg54=) c.54G>A (p.Arg18=) c.336G>A (p.Arg112=) c.273G>A (p.Arg91=) n.891G>A n.918G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.103100381G>C | CA391081235 | EXOC3L4 | c.162G>C (p.Arg54Ser) c.54G>C (p.Arg18Ser) c.336G>C (p.Arg112Ser) c.273G>C (p.Arg91Ser) n.891G>C n.918G>C | |
14 | g.103100381G= | CA2160140034 | EXOC3L4 | c.162G= (p.Arg54=) c.54G= (p.Arg18=) c.336G= (p.Arg112=) c.273G= (p.Arg91=) n.891G= n.918G= | |
14 | g.103100381G>T | CA391081233 | EXOC3L4 | c.162G>T (p.Arg54Ser) c.54G>T (p.Arg18Ser) c.336G>T (p.Arg112Ser) c.273G>T (p.Arg91Ser) n.891G>T n.918G>T | |
14 | g.103100382C>A | CA391081237 | EXOC3L4 | c.163C>A (p.Gln55Lys) c.55C>A (p.Gln19Lys) c.337C>A (p.Gln113Lys) c.274C>A (p.Gln92Lys) n.892C>A n.919C>A | |
14 | g.103100382C>G | CA391081239 | EXOC3L4 | c.163C>G (p.Gln55Glu) c.55C>G (p.Gln19Glu) c.337C>G (p.Gln113Glu) c.274C>G (p.Gln92Glu) n.892C>G n.919C>G | |
14 | g.103100382C>T | CA391081241 | EXOC3L4 | c.163C>T (p.Gln55Ter) c.55C>T (p.Gln19Ter) c.337C>T (p.Gln113Ter) c.274C>T (p.Gln92Ter) n.892C>T n.919C>T | |
14 | g.103100383A= | CA2160140035 | EXOC3L4 | c.164A= (p.Gln55=) c.56A= (p.Gln19=) c.338A= (p.Gln113=) c.275A= (p.Gln92=) n.893A= n.920A= | |
14 | g.103100383A>C | CA391081243 | EXOC3L4 | c.164A>C (p.Gln55Pro) c.56A>C (p.Gln19Pro) c.338A>C (p.Gln113Pro) c.275A>C (p.Gln92Pro) n.893A>C n.920A>C | |
14 | g.103100383A>G | CA391081245 | EXOC3L4 | c.164A>G (p.Gln55Arg) c.56A>G (p.Gln19Arg) c.338A>G (p.Gln113Arg) c.275A>G (p.Gln92Arg) n.893A>G n.920A>G | dbSNP gnomAD v4 |
14 | g.103100383A>T | CA391081247 | EXOC3L4 | c.164A>T (p.Gln55Leu) c.56A>T (p.Gln19Leu) c.338A>T (p.Gln113Leu) c.275A>T (p.Gln92Leu) n.893A>T n.920A>T | |
14 | g.103100384G>A | CA488193742 | EXOC3L4 | c.165G>A (p.Gln55=) c.57G>A (p.Gln19=) c.339G>A (p.Gln113=) c.276G>A (p.Gln92=) n.894G>A n.921G>A | |
14 | g.103100384G>C | CA391081249 | EXOC3L4 | c.165G>C (p.Gln55His) c.57G>C (p.Gln19His) c.339G>C (p.Gln113His) c.276G>C (p.Gln92His) n.894G>C n.921G>C | |
14 | g.103100384G>T | CA391081251 | EXOC3L4 | c.165G>T (p.Gln55His) c.57G>T (p.Gln19His) c.339G>T (p.Gln113His) c.276G>T (p.Gln92His) n.894G>T n.921G>T | |
14 | g.103100385G>A | CA391081254 | EXOC3L4 | c.166G>A (p.Ala56Thr) c.58G>A (p.Ala20Thr) c.340G>A (p.Ala114Thr) c.277G>A (p.Ala93Thr) n.895G>A n.922G>A | gnomAD v4 |
14 | g.103100385G>C | CA391081255 | EXOC3L4 | c.166G>C (p.Ala56Pro) c.58G>C (p.Ala20Pro) c.340G>C (p.Ala114Pro) c.277G>C (p.Ala93Pro) n.895G>C n.922G>C | gnomAD v4 |
14 | g.103100385G>T | CA391081257 | EXOC3L4 | c.166G>T (p.Ala56Ser) c.58G>T (p.Ala20Ser) c.340G>T (p.Ala114Ser) c.277G>T (p.Ala93Ser) n.895G>T n.922G>T | |
14 | g.103100386C>A | CA391081264 | EXOC3L4 | c.167C>A (p.Ala56Asp) c.59C>A (p.Ala20Asp) c.341C>A (p.Ala114Asp) c.278C>A (p.Ala93Asp) n.896C>A n.923C>A | |
14 | g.103100386C= | CA2160140036 | EXOC3L4 | c.167C= (p.Ala56=) c.59C= (p.Ala20=) c.341C= (p.Ala114=) c.278C= (p.Ala93=) n.896C= n.923C= | |
14 | g.103100386C>G | CA391081261 | EXOC3L4 | c.167C>G (p.Ala56Gly) c.59C>G (p.Ala20Gly) c.341C>G (p.Ala114Gly) c.278C>G (p.Ala93Gly) n.896C>G n.923C>G | gnomAD v4 |
14 | g.103100386C>T | CA391081260 | EXOC3L4 | c.167C>T (p.Ala56Val) c.59C>T (p.Ala20Val) c.341C>T (p.Ala114Val) c.278C>T (p.Ala93Val) n.896C>T n.923C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100387_103100403del | CA645582098 | EXOC3L4 | c.168_184del (p.Phe57AlafsTer?) c.60_76del (p.Phe21AlafsTer?) c.342_358del (p.Phe115AlafsTer?) c.279_295del (p.Phe94AlafsTer?) n.897_913del n.924_940del | COSMIC |
14 | g.103100387C>A | CA488193751 | EXOC3L4 | c.168C>A (p.Ala56=) c.60C>A (p.Ala20=) c.342C>A (p.Ala114=) c.279C>A (p.Ala93=) n.897C>A n.924C>A | |
14 | g.103100387C>G | CA488193754 | EXOC3L4 | c.168C>G (p.Ala56=) c.60C>G (p.Ala20=) c.342C>G (p.Ala114=) c.279C>G (p.Ala93=) n.897C>G n.924C>G | |
14 | g.103100387C>T | CA488193759 | EXOC3L4 | c.168C>T (p.Ala56=) c.60C>T (p.Ala20=) c.342C>T (p.Ala114=) c.279C>T (p.Ala93=) n.897C>T n.924C>T | |
14 | g.103100389_103100391del | CA2626692200 | EXOC3L4 | c.170_172del (p.Phe57del) c.62_64del (p.Phe21del) c.344_346del (p.Phe115del) c.281_283del (p.Phe94del) n.899_901del n.926_928del | gnomAD v4 |
14 | g.103100388T>A | CA391081266 | EXOC3L4 | c.169T>A (p.Phe57Ile) c.61T>A (p.Phe21Ile) c.343T>A (p.Phe115Ile) c.280T>A (p.Phe94Ile) n.898T>A n.925T>A | |
14 | g.103100388T>C | CA391081268 | EXOC3L4 | c.169T>C (p.Phe57Leu) c.61T>C (p.Phe21Leu) c.343T>C (p.Phe115Leu) c.280T>C (p.Phe94Leu) n.898T>C n.925T>C | |
14 | g.103100388T>G | CA391081270 | EXOC3L4 | c.169T>G (p.Phe57Val) c.61T>G (p.Phe21Val) c.343T>G (p.Phe115Val) c.280T>G (p.Phe94Val) n.898T>G n.925T>G | |
14 | g.103100389T>A | CA391081272 | EXOC3L4 | c.170T>A (p.Phe57Tyr) c.62T>A (p.Phe21Tyr) c.344T>A (p.Phe115Tyr) c.281T>A (p.Phe94Tyr) n.899T>A n.926T>A | |
14 | g.103100389T>C | CA391081273 | EXOC3L4 | c.170T>C (p.Phe57Ser) c.62T>C (p.Phe21Ser) c.344T>C (p.Phe115Ser) c.281T>C (p.Phe94Ser) n.899T>C n.926T>C | COSMIC |
14 | g.103100389T>G | CA391081275 | EXOC3L4 | c.170T>G (p.Phe57Cys) c.62T>G (p.Phe21Cys) c.344T>G (p.Phe115Cys) c.281T>G (p.Phe94Cys) n.899T>G n.926T>G | |
14 | g.103100390C>A | CA391081277 | EXOC3L4 | c.171C>A (p.Phe57Leu) c.63C>A (p.Phe21Leu) c.345C>A (p.Phe115Leu) c.282C>A (p.Phe94Leu) n.900C>A n.927C>A | |
14 | g.103100390C= | CA2160140037 | EXOC3L4 | c.171C= (p.Phe57=) c.63C= (p.Phe21=) c.345C= (p.Phe115=) c.282C= (p.Phe94=) n.900C= n.927C= | |
14 | g.103100390C>G | CA391081280 | EXOC3L4 | c.171C>G (p.Phe57Leu) c.63C>G (p.Phe21Leu) c.345C>G (p.Phe115Leu) c.282C>G (p.Phe94Leu) n.900C>G n.927C>G | |
14 | g.103100390C>T | CA488193764 | EXOC3L4 | c.171C>T (p.Phe57=) c.63C>T (p.Phe21=) c.345C>T (p.Phe115=) c.282C>T (p.Phe94=) n.900C>T n.927C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100391T>A | CA391081282 | EXOC3L4 | c.172T>A (p.Ser58Thr) c.64T>A (p.Ser22Thr) c.346T>A (p.Ser116Thr) c.283T>A (p.Ser95Thr) n.901T>A n.928T>A | |
14 | g.103100391T>C | CA391081284 | EXOC3L4 | c.172T>C (p.Ser58Pro) c.64T>C (p.Ser22Pro) c.346T>C (p.Ser116Pro) c.283T>C (p.Ser95Pro) n.901T>C n.928T>C | |
14 | g.103100391T>G | CA391081285 | EXOC3L4 | c.172T>G (p.Ser58Ala) c.64T>G (p.Ser22Ala) c.346T>G (p.Ser116Ala) c.283T>G (p.Ser95Ala) n.901T>G n.928T>G | |
14 | g.103100392C>A | CA391081290 | EXOC3L4 | c.173C>A (p.Ser58Tyr) c.65C>A (p.Ser22Tyr) c.347C>A (p.Ser116Tyr) c.284C>A (p.Ser95Tyr) n.902C>A n.929C>A | |
14 | g.103100392C= | CA2160140038 | EXOC3L4 | c.173C= (p.Ser58=) c.65C= (p.Ser22=) c.347C= (p.Ser116=) c.284C= (p.Ser95=) n.902C= n.929C= | |
14 | g.103100392C>G | CA391081289 | EXOC3L4 | c.173C>G (p.Ser58Cys) c.65C>G (p.Ser22Cys) c.347C>G (p.Ser116Cys) c.284C>G (p.Ser95Cys) n.902C>G n.929C>G | |
14 | g.103100392C>T | CA391081287 | EXOC3L4 | c.173C>T (p.Ser58Phe) c.65C>T (p.Ser22Phe) c.347C>T (p.Ser116Phe) c.284C>T (p.Ser95Phe) n.902C>T n.929C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100393C>A | CA488193766 | EXOC3L4 | c.174C>A (p.Ser58=) c.66C>A (p.Ser22=) c.348C>A (p.Ser116=) c.285C>A (p.Ser95=) n.903C>A n.930C>A | |
14 | g.103100393C= | CA2160140039 | EXOC3L4 | c.174C= (p.Ser58=) c.66C= (p.Ser22=) c.348C= (p.Ser116=) c.285C= (p.Ser95=) n.903C= n.930C= | |
14 | g.103100393C>G | CA488193767 | EXOC3L4 | c.174C>G (p.Ser58=) c.66C>G (p.Ser22=) c.348C>G (p.Ser116=) c.285C>G (p.Ser95=) n.903C>G n.930C>G | |
14 | g.103100393C>T | CA488193768 | EXOC3L4 | c.174C>T (p.Ser58=) c.66C>T (p.Ser22=) c.348C>T (p.Ser116=) c.285C>T (p.Ser95=) n.903C>T n.930C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100394C>A | CA7361812 | EXOC3L4 | c.175C>A (p.Arg59=) c.67C>A (p.Arg23=) c.349C>A (p.Arg117=) c.286C>A (p.Arg96=) n.904C>A n.931C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.103100394C= | CA2160140040 | EXOC3L4 | c.175C= (p.Arg59=) c.67C= (p.Arg23=) c.349C= (p.Arg117=) c.286C= (p.Arg96=) n.904C= n.931C= | |
14 | g.103100394C>G | CA391081294 | EXOC3L4 | c.175C>G (p.Arg59Gly) c.67C>G (p.Arg23Gly) c.349C>G (p.Arg117Gly) c.286C>G (p.Arg96Gly) n.904C>G n.931C>G | |
14 | g.103100394C>T | CA7361813 | EXOC3L4 | c.175C>T (p.Arg59Trp) c.67C>T (p.Arg23Trp) c.349C>T (p.Arg117Trp) c.286C>T (p.Arg96Trp) n.904C>T n.931C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.103100395G>A | CA7361814 | EXOC3L4 | c.176G>A (p.Arg59Gln) c.68G>A (p.Arg23Gln) c.350G>A (p.Arg117Gln) c.287G>A (p.Arg96Gln) n.905G>A n.932G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.103100395G>C | CA391081298 | EXOC3L4 | c.176G>C (p.Arg59Pro) c.68G>C (p.Arg23Pro) c.350G>C (p.Arg117Pro) c.287G>C (p.Arg96Pro) n.905G>C n.932G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100395G= | CA2160140041 | EXOC3L4 | c.176G= (p.Arg59=) c.68G= (p.Arg23=) c.350G= (p.Arg117=) c.287G= (p.Arg96=) n.905G= n.932G= | |
14 | g.103100395G>T | CA267170820 | EXOC3L4 | c.176G>T (p.Arg59Leu) c.68G>T (p.Arg23Leu) c.350G>T (p.Arg117Leu) c.287G>T (p.Arg96Leu) n.905G>T n.932G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100396G>A | CA488193771 | EXOC3L4 | c.177G>A (p.Arg59=) c.69G>A (p.Arg23=) c.351G>A (p.Arg117=) c.288G>A (p.Arg96=) n.906G>A n.933G>A | |
14 | g.103100396G>C | CA488193772 | EXOC3L4 | c.177G>C (p.Arg59=) c.69G>C (p.Arg23=) c.351G>C (p.Arg117=) c.288G>C (p.Arg96=) n.906G>C n.933G>C | |
14 | g.103100396G>T | CA488193773 | EXOC3L4 | c.177G>T (p.Arg59=) c.69G>T (p.Arg23=) c.351G>T (p.Arg117=) c.288G>T (p.Arg96=) n.906G>T n.933G>T | |
14 | g.103100397G>A | CA391081302 | EXOC3L4 | c.178G>A (p.Ala60Thr) c.70G>A (p.Ala24Thr) c.352G>A (p.Ala118Thr) c.289G>A (p.Ala97Thr) n.907G>A n.934G>A | |
14 | g.103100397G>C | CA391081304 | EXOC3L4 | c.178G>C (p.Ala60Pro) c.70G>C (p.Ala24Pro) c.352G>C (p.Ala118Pro) c.289G>C (p.Ala97Pro) n.907G>C n.934G>C | |
14 | g.103100397G>T | CA391081305 | EXOC3L4 | c.178G>T (p.Ala60Ser) c.70G>T (p.Ala24Ser) c.352G>T (p.Ala118Ser) c.289G>T (p.Ala97Ser) n.907G>T n.934G>T | |
14 | g.103100398C>A | CA391081308 | EXOC3L4 | c.179C>A (p.Ala60Asp) c.71C>A (p.Ala24Asp) c.353C>A (p.Ala118Asp) c.290C>A (p.Ala97Asp) n.908C>A n.935C>A | |
14 | g.103100398C>G | CA391081310 | EXOC3L4 | c.179C>G (p.Ala60Gly) c.71C>G (p.Ala24Gly) c.353C>G (p.Ala118Gly) c.290C>G (p.Ala97Gly) n.908C>G n.935C>G | |
14 | g.103100398C>T | CA391081312 | EXOC3L4 | c.179C>T (p.Ala60Val) c.71C>T (p.Ala24Val) c.353C>T (p.Ala118Val) c.290C>T (p.Ala97Val) n.908C>T n.935C>T | |
14 | g.103100399C>A | CA488193780 | EXOC3L4 | c.180C>A (p.Ala60=) c.72C>A (p.Ala24=) c.354C>A (p.Ala118=) c.291C>A (p.Ala97=) n.909C>A n.936C>A | |
14 | g.103100399C>G | CA488193781 | EXOC3L4 | c.180C>G (p.Ala60=) c.72C>G (p.Ala24=) c.354C>G (p.Ala118=) c.291C>G (p.Ala97=) n.909C>G n.936C>G | |
14 | g.103100399C>T | CA488193779 | EXOC3L4 | c.180C>T (p.Ala60=) c.72C>T (p.Ala24=) c.354C>T (p.Ala118=) c.291C>T (p.Ala97=) n.909C>T n.936C>T | gnomAD v4 |
14 | g.103100400A= | CA2160140042 | EXOC3L4 | c.181A= (p.Ser61=) c.73A= (p.Ser25=) c.355A= (p.Ser119=) c.292A= (p.Ser98=) n.910A= n.937A= | |
14 | g.103100400A>C | CA391081325 | EXOC3L4 | c.181A>C (p.Ser61Arg) c.73A>C (p.Ser25Arg) c.355A>C (p.Ser119Arg) c.292A>C (p.Ser98Arg) n.910A>C n.937A>C | |
14 | g.103100400A>G | CA391081322 | EXOC3L4 | c.181A>G (p.Ser61Gly) c.73A>G (p.Ser25Gly) c.355A>G (p.Ser119Gly) c.292A>G (p.Ser98Gly) n.910A>G n.937A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100400A>T | CA391081315 | EXOC3L4 | c.181A>T (p.Ser61Cys) c.73A>T (p.Ser25Cys) c.355A>T (p.Ser119Cys) c.292A>T (p.Ser98Cys) n.910A>T n.937A>T | |
14 | g.103100401G>A | CA391081327 | EXOC3L4 | c.182G>A (p.Ser61Asn) c.74G>A (p.Ser25Asn) c.356G>A (p.Ser119Asn) c.293G>A (p.Ser98Asn) n.911G>A n.938G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100401G>C | CA391081330 | EXOC3L4 | c.182G>C (p.Ser61Thr) c.74G>C (p.Ser25Thr) c.356G>C (p.Ser119Thr) c.293G>C (p.Ser98Thr) n.911G>C n.938G>C | gnomAD v4 |
14 | g.103100401G= | CA2160140043 | EXOC3L4 | c.182G= (p.Ser61=) c.74G= (p.Ser25=) c.356G= (p.Ser119=) c.293G= (p.Ser98=) n.911G= n.938G= | |
14 | g.103100401G>T | CA391081332 | EXOC3L4 | c.182G>T (p.Ser61Ile) c.74G>T (p.Ser25Ile) c.356G>T (p.Ser119Ile) c.293G>T (p.Ser98Ile) n.911G>T n.938G>T | |
14 | g.103100402C>A | CA391081335 | EXOC3L4 | c.183C>A (p.Ser61Arg) c.75C>A (p.Ser25Arg) c.357C>A (p.Ser119Arg) c.294C>A (p.Ser98Arg) n.912C>A n.939C>A | |
14 | g.103100402C>G | CA391081336 | EXOC3L4 | c.183C>G (p.Ser61Arg) c.75C>G (p.Ser25Arg) c.357C>G (p.Ser119Arg) c.294C>G (p.Ser98Arg) n.912C>G n.939C>G | |
14 | g.103100402C>T | CA488193791 | EXOC3L4 | c.183C>T (p.Ser61=) c.75C>T (p.Ser25=) c.357C>T (p.Ser119=) c.294C>T (p.Ser98=) n.912C>T n.939C>T | |
14 | g.103100403C>A | CA7361815 | EXOC3L4 | c.184C>A (p.Gln62Lys) c.76C>A (p.Gln26Lys) c.358C>A (p.Gln120Lys) c.295C>A (p.Gln99Lys) n.913C>A n.940C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100403C= | CA2160140044 | EXOC3L4 | c.184C= (p.Gln62=) c.76C= (p.Gln26=) c.358C= (p.Gln120=) c.295C= (p.Gln99=) n.913C= n.940C= | |
14 | g.103100403C>G | CA391081341 | EXOC3L4 | c.184C>G (p.Gln62Glu) c.76C>G (p.Gln26Glu) c.358C>G (p.Gln120Glu) c.295C>G (p.Gln99Glu) n.913C>G n.940C>G | |
14 | g.103100403C>T | CA391081343 | EXOC3L4 | c.184C>T (p.Gln62Ter) c.76C>T (p.Gln26Ter) c.358C>T (p.Gln120Ter) c.295C>T (p.Gln99Ter) n.913C>T n.940C>T | |
14 | g.103100404A>C | CA391081346 | EXOC3L4 | c.185A>C (p.Gln62Pro) c.77A>C (p.Gln26Pro) c.359A>C (p.Gln120Pro) c.296A>C (p.Gln99Pro) n.914A>C n.941A>C | |
14 | g.103100404A>G | CA391081348 | EXOC3L4 | c.185A>G (p.Gln62Arg) c.77A>G (p.Gln26Arg) c.359A>G (p.Gln120Arg) c.296A>G (p.Gln99Arg) n.914A>G n.941A>G | |
14 | g.103100404A>T | CA391081356 | EXOC3L4 | c.185A>T (p.Gln62Leu) c.77A>T (p.Gln26Leu) c.359A>T (p.Gln120Leu) c.296A>T (p.Gln99Leu) n.914A>T n.941A>T | |
14 | g.103100404_103100408del | CA2575632688 | EXOC3L4 | c.185_189del (p.Gln62ArgfsTer30) c.77_81del (p.Gln26ArgfsTer30) c.359_363del (p.Gln120ArgfsTer30) c.296_300del (p.Gln99ArgfsTer30) n.914_918del n.941_945del | |
14 | g.103100405G>A | CA488193798 | EXOC3L4 | c.186G>A (p.Gln62=) c.78G>A (p.Gln26=) c.360G>A (p.Gln120=) c.297G>A (p.Gln99=) n.915G>A n.942G>A | |
14 | g.103100405G>C | CA391081358 | EXOC3L4 | c.186G>C (p.Gln62His) c.78G>C (p.Gln26His) c.360G>C (p.Gln120His) c.297G>C (p.Gln99His) n.915G>C n.942G>C | |
14 | g.103100405G= | CA2160140045 | EXOC3L4 | c.186G= (p.Gln62=) c.78G= (p.Gln26=) c.360G= (p.Gln120=) c.297G= (p.Gln99=) n.915G= n.942G= | |
14 | g.103100405G>T | CA391081360 | EXOC3L4 | c.186G>T (p.Gln62His) c.78G>T (p.Gln26His) c.360G>T (p.Gln120His) c.297G>T (p.Gln99His) n.915G>T n.942G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100406C>A | CA488193800 | EXOC3L4 | c.187C>A (p.Arg63=) c.79C>A (p.Arg27=) c.361C>A (p.Arg121=) c.298C>A (p.Arg100=) n.916C>A n.943C>A | |
14 | g.103100406C= | CA2160140046 | EXOC3L4 | c.187C= (p.Arg63=) c.79C= (p.Arg27=) c.361C= (p.Arg121=) c.298C= (p.Arg100=) n.916C= n.943C= | |
14 | g.103100406C>G | CA391081362 | EXOC3L4 | c.187C>G (p.Arg63Gly) c.79C>G (p.Arg27Gly) c.361C>G (p.Arg121Gly) c.298C>G (p.Arg100Gly) n.916C>G n.943C>G | |
14 | g.103100406C>T | CA7361816 | EXOC3L4 | c.187C>T (p.Arg63Trp) c.79C>T (p.Arg27Trp) c.361C>T (p.Arg121Trp) c.298C>T (p.Arg100Trp) n.916C>T n.943C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100407G>A | CA7361817 | EXOC3L4 | c.188G>A (p.Arg63Gln) c.80G>A (p.Arg27Gln) c.362G>A (p.Arg121Gln) c.299G>A (p.Arg100Gln) n.917G>A n.944G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100407G>C | CA391081367 | EXOC3L4 | c.188G>C (p.Arg63Pro) c.80G>C (p.Arg27Pro) c.362G>C (p.Arg121Pro) c.299G>C (p.Arg100Pro) n.917G>C n.944G>C | gnomAD v4 |
14 | g.103100407G= | CA2160140047 | EXOC3L4 | c.188G= (p.Arg63=) c.80G= (p.Arg27=) c.362G= (p.Arg121=) c.299G= (p.Arg100=) n.917G= n.944G= | |
14 | g.103100407G>T | CA391081370 | EXOC3L4 | c.188G>T (p.Arg63Leu) c.80G>T (p.Arg27Leu) c.362G>T (p.Arg121Leu) c.299G>T (p.Arg100Leu) n.917G>T n.944G>T | gnomAD v4 |
14 | g.103100408G>A | CA488193802 | EXOC3L4 | c.189G>A (p.Arg63=) c.81G>A (p.Arg27=) c.363G>A (p.Arg121=) c.300G>A (p.Arg100=) n.918G>A n.945G>A | |
14 | g.103100408G>C | CA488193804 | EXOC3L4 | c.189G>C (p.Arg63=) c.81G>C (p.Arg27=) c.363G>C (p.Arg121=) c.300G>C (p.Arg100=) n.918G>C n.945G>C | |
14 | g.103100408G>T | CA488193805 | EXOC3L4 | c.189G>T (p.Arg63=) c.81G>T (p.Arg27=) c.363G>T (p.Arg121=) c.300G>T (p.Arg100=) n.918G>T n.945G>T | |
14 | g.103100409G>A | CA391081375 | EXOC3L4 | c.190G>A (p.Ala64Thr) c.82G>A (p.Ala28Thr) c.364G>A (p.Ala122Thr) c.301G>A (p.Ala101Thr) n.919G>A n.946G>A | |
14 | g.103100409G>C | CA391081377 | EXOC3L4 | c.190G>C (p.Ala64Pro) c.82G>C (p.Ala28Pro) c.364G>C (p.Ala122Pro) c.301G>C (p.Ala101Pro) n.919G>C n.946G>C | |
14 | g.103100409G>T | CA391081381 | EXOC3L4 | c.190G>T (p.Ala64Ser) c.82G>T (p.Ala28Ser) c.364G>T (p.Ala122Ser) c.301G>T (p.Ala101Ser) n.919G>T n.946G>T | gnomAD v4 |
14 | g.103100410C>A | CA391081383 | EXOC3L4 | c.191C>A (p.Ala64Asp) c.83C>A (p.Ala28Asp) c.365C>A (p.Ala122Asp) c.302C>A (p.Ala101Asp) n.920C>A n.947C>A | |
14 | g.103100410C= | CA2160140048 | EXOC3L4 | c.191C= (p.Ala64=) c.83C= (p.Ala28=) c.365C= (p.Ala122=) c.302C= (p.Ala101=) n.920C= n.947C= | |
14 | g.103100410C>G | CA391081385 | EXOC3L4 | c.191C>G (p.Ala64Gly) c.83C>G (p.Ala28Gly) c.365C>G (p.Ala122Gly) c.302C>G (p.Ala101Gly) n.920C>G n.947C>G | |
14 | g.103100410C>T | CA391081386 | EXOC3L4 | c.191C>T (p.Ala64Val) c.83C>T (p.Ala28Val) c.365C>T (p.Ala122Val) c.302C>T (p.Ala101Val) n.920C>T n.947C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100411T>A | CA488193806 | EXOC3L4 | c.192T>A (p.Ala64=) c.84T>A (p.Ala28=) c.366T>A (p.Ala122=) c.303T>A (p.Ala101=) n.921T>A n.948T>A | |
14 | g.103100411T>C | CA488193807 | EXOC3L4 | c.192T>C (p.Ala64=) c.84T>C (p.Ala28=) c.366T>C (p.Ala122=) c.303T>C (p.Ala101=) n.921T>C n.948T>C | |
14 | g.103100411T>G | CA488193808 | EXOC3L4 | c.192T>G (p.Ala64=) c.84T>G (p.Ala28=) c.366T>G (p.Ala122=) c.303T>G (p.Ala101=) n.921T>G n.948T>G | |
14 | g.103100412T>A | CA391081390 | EXOC3L4 | c.193T>A (p.Leu65Met) c.85T>A (p.Leu29Met) c.367T>A (p.Leu123Met) c.304T>A (p.Leu102Met) n.922T>A n.949T>A | |
14 | g.103100412T>C | CA488193809 | EXOC3L4 | c.193T>C (p.Leu65=) c.85T>C (p.Leu29=) c.367T>C (p.Leu123=) c.304T>C (p.Leu102=) n.922T>C n.949T>C | |
14 | g.103100412T>G | CA391081393 | EXOC3L4 | c.193T>G (p.Leu65Val) c.85T>G (p.Leu29Val) c.367T>G (p.Leu123Val) c.304T>G (p.Leu102Val) n.922T>G n.949T>G | |
14 | g.103100413T>A | CA391081397 | EXOC3L4 | c.194T>A (p.Leu65Ter) c.86T>A (p.Leu29Ter) c.368T>A (p.Leu123Ter) c.305T>A (p.Leu102Ter) n.923T>A n.950T>A | |
14 | g.103100413T>C | CA391081400 | EXOC3L4 | c.194T>C (p.Leu65Ser) c.86T>C (p.Leu29Ser) c.368T>C (p.Leu123Ser) c.305T>C (p.Leu102Ser) n.923T>C n.950T>C | |
14 | g.103100413T>G | CA391081402 | EXOC3L4 | c.194T>G (p.Leu65Trp) c.86T>G (p.Leu29Trp) c.368T>G (p.Leu123Trp) c.305T>G (p.Leu102Trp) n.923T>G n.950T>G | |
14 | g.103100414G>A | CA488193813 | EXOC3L4 | c.195G>A (p.Leu65=) c.87G>A (p.Leu29=) c.369G>A (p.Leu123=) c.306G>A (p.Leu102=) n.924G>A n.951G>A | |
14 | g.103100414G>C | CA391081408 | EXOC3L4 | c.195G>C (p.Leu65Phe) c.87G>C (p.Leu29Phe) c.369G>C (p.Leu123Phe) c.306G>C (p.Leu102Phe) n.924G>C n.951G>C | |
14 | g.103100414G>T | CA391081405 | EXOC3L4 | c.195G>T (p.Leu65Phe) c.87G>T (p.Leu29Phe) c.369G>T (p.Leu123Phe) c.306G>T (p.Leu102Phe) n.924G>T n.951G>T | |
14 | g.103100415A>C | CA391081411 | EXOC3L4 | c.196A>C (p.Thr66Pro) c.88A>C (p.Thr30Pro) c.370A>C (p.Thr124Pro) c.307A>C (p.Thr103Pro) n.925A>C n.952A>C | dbSNP |
14 | g.103100415A>G | CA391081413 | EXOC3L4 | c.196A>G (p.Thr66Ala) c.88A>G (p.Thr30Ala) c.370A>G (p.Thr124Ala) c.307A>G (p.Thr103Ala) n.925A>G n.952A>G | |
14 | g.103100415A>T | CA391081416 | EXOC3L4 | c.196A>T (p.Thr66Ser) c.88A>T (p.Thr30Ser) c.370A>T (p.Thr124Ser) c.307A>T (p.Thr103Ser) n.925A>T n.952A>T | |
14 | g.103100416C>A | CA391081417 | EXOC3L4 | c.197C>A (p.Thr66Asn) c.89C>A (p.Thr30Asn) c.371C>A (p.Thr124Asn) c.308C>A (p.Thr103Asn) n.926C>A n.953C>A | |
14 | g.103100416C>G | CA391081418 | EXOC3L4 | c.197C>G (p.Thr66Ser) c.89C>G (p.Thr30Ser) c.371C>G (p.Thr124Ser) c.308C>G (p.Thr103Ser) n.926C>G n.953C>G | gnomAD v4 |
14 | g.103100416C>T | CA391081419 | EXOC3L4 | c.197C>T (p.Thr66Ile) c.89C>T (p.Thr30Ile) c.371C>T (p.Thr124Ile) c.308C>T (p.Thr103Ile) n.926C>T n.953C>T | gnomAD v4 |
14 | g.103100417C>A | CA488193817 | EXOC3L4 | c.198C>A (p.Thr66=) c.90C>A (p.Thr30=) c.372C>A (p.Thr124=) c.309C>A (p.Thr103=) n.927C>A n.954C>A | |
14 | g.103100417C>G | CA488193818 | EXOC3L4 | c.198C>G (p.Thr66=) c.90C>G (p.Thr30=) c.372C>G (p.Thr124=) c.309C>G (p.Thr103=) n.927C>G n.954C>G | |
14 | g.103100417C>T | CA488193820 | EXOC3L4 | c.198C>T (p.Thr66=) c.90C>T (p.Thr30=) c.372C>T (p.Thr124=) c.309C>T (p.Thr103=) n.927C>T n.954C>T | |
14 | g.103100418C>A | CA391081428 | EXOC3L4 | c.199C>A (p.Gln67Lys) c.91C>A (p.Gln31Lys) c.373C>A (p.Gln125Lys) c.310C>A (p.Gln104Lys) n.928C>A n.955C>A | gnomAD v4 |
14 | g.103100418C= | CA2160140049 | EXOC3L4 | c.199C= (p.Gln67=) c.91C= (p.Gln31=) c.373C= (p.Gln125=) c.310C= (p.Gln104=) n.928C= n.955C= | |
14 | g.103100418C>G | CA391081421 | EXOC3L4 | c.199C>G (p.Gln67Glu) c.91C>G (p.Gln31Glu) c.373C>G (p.Gln125Glu) c.310C>G (p.Gln104Glu) n.928C>G n.955C>G | dbSNP gnomAD v4 |
14 | g.103100418C>T | CA391081423 | EXOC3L4 | c.199C>T (p.Gln67Ter) c.91C>T (p.Gln31Ter) c.373C>T (p.Gln125Ter) c.310C>T (p.Gln104Ter) n.928C>T n.955C>T | |
14 | g.103100419del | CA2626692202 | EXOC3L4 | c.200del (p.Gln67ArgfsTer25) c.92del (p.Gln31ArgfsTer25) c.374del (p.Gln125ArgfsTer25) c.311del (p.Gln104ArgfsTer25) n.929del n.956del | gnomAD v4 |
14 | g.103100419A= | CA2160140050 | EXOC3L4 | c.200A= (p.Gln67=) c.92A= (p.Gln31=) c.374A= (p.Gln125=) c.311A= (p.Gln104=) n.929A= n.956A= | |
14 | g.103100419A>C | CA391081431 | EXOC3L4 | c.200A>C (p.Gln67Pro) c.92A>C (p.Gln31Pro) c.374A>C (p.Gln125Pro) c.311A>C (p.Gln104Pro) n.929A>C n.956A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100419A>G | CA391081434 | EXOC3L4 | c.200A>G (p.Gln67Arg) c.92A>G (p.Gln31Arg) c.374A>G (p.Gln125Arg) c.311A>G (p.Gln104Arg) n.929A>G n.956A>G | |
14 | g.103100419A>T | CA391081437 | EXOC3L4 | c.200A>T (p.Gln67Leu) c.92A>T (p.Gln31Leu) c.374A>T (p.Gln125Leu) c.311A>T (p.Gln104Leu) n.929A>T n.956A>T | |
14 | g.103100420G>A | CA488193827 | EXOC3L4 | c.201G>A (p.Gln67=) c.93G>A (p.Gln31=) c.375G>A (p.Gln125=) c.312G>A (p.Gln104=) n.930G>A n.957G>A | gnomAD v4 |
14 | g.103100420G>C | CA391081442 | EXOC3L4 | c.201G>C (p.Gln67His) c.93G>C (p.Gln31His) c.375G>C (p.Gln125His) c.312G>C (p.Gln104His) n.930G>C n.957G>C | |
14 | g.103100420G>T | CA391081445 | EXOC3L4 | c.201G>T (p.Gln67His) c.93G>T (p.Gln31His) c.375G>T (p.Gln125His) c.312G>T (p.Gln104His) n.930G>T n.957G>T | |
14 | g.103100421G>A | CA391081448 | EXOC3L4 | c.202G>A (p.Val68Ile) c.94G>A (p.Val32Ile) c.376G>A (p.Val126Ile) c.313G>A (p.Val105Ile) n.931G>A n.958G>A | |
14 | g.103100421G>C | CA391081453 | EXOC3L4 | c.202G>C (p.Val68Leu) c.94G>C (p.Val32Leu) c.376G>C (p.Val126Leu) c.313G>C (p.Val105Leu) n.931G>C n.958G>C | |
14 | g.103100421G>T | CA391081450 | EXOC3L4 | c.202G>T (p.Val68Phe) c.94G>T (p.Val32Phe) c.376G>T (p.Val126Phe) c.313G>T (p.Val105Phe) n.931G>T n.958G>T | |
14 | g.103100422T>A | CA391081456 | EXOC3L4 | c.203T>A (p.Val68Asp) c.95T>A (p.Val32Asp) c.377T>A (p.Val126Asp) c.314T>A (p.Val105Asp) n.932T>A n.959T>A | |
14 | g.103100422T>C | CA391081457 | EXOC3L4 | c.203T>C (p.Val68Ala) c.95T>C (p.Val32Ala) c.377T>C (p.Val126Ala) c.314T>C (p.Val105Ala) n.932T>C n.959T>C | |
14 | g.103100422T>G | CA391081458 | EXOC3L4 | c.203T>G (p.Val68Gly) c.95T>G (p.Val32Gly) c.377T>G (p.Val126Gly) c.314T>G (p.Val105Gly) n.932T>G n.959T>G | |
14 | g.103100423C>A | CA488193830 | EXOC3L4 | c.204C>A (p.Val68=) c.96C>A (p.Val32=) c.378C>A (p.Val126=) c.315C>A (p.Val105=) n.933C>A n.960C>A | gnomAD v4 |
14 | g.103100423C= | CA2160140051 | EXOC3L4 | c.204C= (p.Val68=) c.96C= (p.Val32=) c.378C= (p.Val126=) c.315C= (p.Val105=) n.933C= n.960C= | |
14 | g.103100423C>G | CA7361818 | EXOC3L4 | c.204C>G (p.Val68=) c.96C>G (p.Val32=) c.378C>G (p.Val126=) c.315C>G (p.Val105=) n.933C>G n.960C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.103100423C>T | CA488193833 | EXOC3L4 | c.204C>T (p.Val68=) c.96C>T (p.Val32=) c.378C>T (p.Val126=) c.315C>T (p.Val105=) n.933C>T n.960C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100424T>A | CA391081461 | EXOC3L4 | c.205T>A (p.Ser69Thr) c.97T>A (p.Ser33Thr) c.379T>A (p.Ser127Thr) c.316T>A (p.Ser106Thr) n.934T>A n.961T>A | |
14 | g.103100424T>C | CA391081463 | EXOC3L4 | c.205T>C (p.Ser69Pro) c.97T>C (p.Ser33Pro) c.379T>C (p.Ser127Pro) c.316T>C (p.Ser106Pro) n.934T>C n.961T>C | gnomAD v4 |
14 | g.103100424T>G | CA391081466 | EXOC3L4 | c.205T>G (p.Ser69Ala) c.97T>G (p.Ser33Ala) c.379T>G (p.Ser127Ala) c.316T>G (p.Ser106Ala) n.934T>G n.961T>G | |
14 | g.103100424T= | CA2160140052 | EXOC3L4 | c.205T= (p.Ser69=) c.97T= (p.Ser33=) c.379T= (p.Ser127=) c.316T= (p.Ser106=) n.934T= n.961T= | |
14 | g.103100425C>A | CA391081470 | EXOC3L4 | c.206C>A (p.Ser69Tyr) c.98C>A (p.Ser33Tyr) c.380C>A (p.Ser127Tyr) c.317C>A (p.Ser106Tyr) n.935C>A n.962C>A | |
14 | g.103100425C= | CA2160140054 | EXOC3L4 | c.206C= (p.Ser69=) c.98C= (p.Ser33=) c.380C= (p.Ser127=) c.317C= (p.Ser106=) n.935C= n.962C= | |
14 | g.103100425C>G | CA391081473 | EXOC3L4 | c.206C>G (p.Ser69Cys) c.98C>G (p.Ser33Cys) c.380C>G (p.Ser127Cys) c.317C>G (p.Ser106Cys) n.935C>G n.962C>G | |
14 | g.103100425C>T | CA391081476 | EXOC3L4 | c.206C>T (p.Ser69Phe) c.98C>T (p.Ser33Phe) c.380C>T (p.Ser127Phe) c.317C>T (p.Ser106Phe) n.935C>T n.962C>T | dbSNP gnomAD v2 |
14 | g.103100426_103100427insCTTTGACC | CA2160140053 | EXOC3L4 | c.207_208insCTTTGACC (p.Lys70LeufsTer2) c.99_100insCTTTGACC (p.Lys34LeufsTer2) c.381_382insCTTTGACC (p.Lys128LeufsTer2) c.318_319insCTTTGACC (p.Lys107LeufsTer2) n.936_937insCTTTGACC n.963_964insCTTTGACC | dbSNP |
14 | g.103100426C>A | CA488193840 | EXOC3L4 | c.207C>A (p.Ser69=) c.99C>A (p.Ser33=) c.381C>A (p.Ser127=) c.318C>A (p.Ser106=) n.936C>A n.963C>A | |
14 | g.103100426C= | CA2160140055 | EXOC3L4 | c.207C= (p.Ser69=) c.99C= (p.Ser33=) c.381C= (p.Ser127=) c.318C= (p.Ser106=) n.936C= n.963C= | |
14 | g.103100426C>G | CA488193843 | EXOC3L4 | c.207C>G (p.Ser69=) c.99C>G (p.Ser33=) c.381C>G (p.Ser127=) c.318C>G (p.Ser106=) n.936C>G n.963C>G | |
14 | g.103100426C>T | CA488193842 | EXOC3L4 | c.207C>T (p.Ser69=) c.99C>T (p.Ser33=) c.381C>T (p.Ser127=) c.318C>T (p.Ser106=) n.936C>T n.963C>T | gnomAD v4 |
14 | g.103100426_103100427insCTTTG | CA966769491 | EXOC3L4 | c.207_208insCTTTG (p.Lys70LeufsTer2) c.99_100insCTTTG (p.Lys34LeufsTer2) c.381_382insCTTTG (p.Lys128LeufsTer2) c.318_319insCTTTG (p.Lys107LeufsTer2) n.936_937insCTTTG n.963_964insCTTTG | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100427A= | CA2160140056 | EXOC3L4 | c.208A= (p.Lys70=) c.100A= (p.Lys34=) c.382A= (p.Lys128=) c.319A= (p.Lys107=) n.937A= n.964A= | |
14 | g.103100427A>C | CA391081479 | EXOC3L4 | c.208A>C (p.Lys70Gln) c.100A>C (p.Lys34Gln) c.382A>C (p.Lys128Gln) c.319A>C (p.Lys107Gln) n.937A>C n.964A>C | dbSNP |
14 | g.103100427A>G | CA391081480 | EXOC3L4 | c.208A>G (p.Lys70Glu) c.100A>G (p.Lys34Glu) c.382A>G (p.Lys128Glu) c.319A>G (p.Lys107Glu) n.937A>G n.964A>G | |
14 | g.103100427A>T | CA391081485 | EXOC3L4 | c.208A>T (p.Lys70Ter) c.100A>T (p.Lys34Ter) c.382A>T (p.Lys128Ter) c.319A>T (p.Lys107Ter) n.937A>T n.964A>T | |
14 | g.103100427_103100428insCCC | CA966769498 | EXOC3L4 | c.208_209insCCC (p.Lys70delinsThrGln) c.100_101insCCC (p.Lys34delinsThrGln) c.382_383insCCC (p.Lys128delinsThrGln) c.319_320insCCC (p.Lys107delinsThrGln) n.937_938insCCC n.964_965insCCC | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100428A>C | CA391081504 | EXOC3L4 | c.209A>C (p.Lys70Thr) c.101A>C (p.Lys34Thr) c.383A>C (p.Lys128Thr) c.320A>C (p.Lys107Thr) n.938A>C n.965A>C | |
14 | g.103100428A>G | CA391081488 | EXOC3L4 | c.209A>G (p.Lys70Arg) c.101A>G (p.Lys34Arg) c.383A>G (p.Lys128Arg) c.320A>G (p.Lys107Arg) n.938A>G n.965A>G | |
14 | g.103100428A>T | CA391081499 | EXOC3L4 | c.209A>T (p.Lys70Met) c.101A>T (p.Lys34Met) c.383A>T (p.Lys128Met) c.320A>T (p.Lys107Met) n.938A>T n.965A>T | |
14 | g.103100428_103100429delinsAG | CA2160140057 | EXOC3L4 | c.209_210delinsAG (p.Lys70=) c.101_102delinsAG (p.Lys34=) c.383_384delinsAG (p.Lys128=) c.320_321delinsAG (p.Lys107=) n.938_939delinsAG n.965_966delinsAG | |
14 | g.103100429G>A | CA488193848 | EXOC3L4 | c.210G>A (p.Lys70=) c.102G>A (p.Lys34=) c.384G>A (p.Lys128=) c.321G>A (p.Lys107=) n.939G>A n.966G>A | dbSNP |
14 | g.103100429G>C | CA391081507 | EXOC3L4 | c.210G>C (p.Lys70Asn) c.102G>C (p.Lys34Asn) c.384G>C (p.Lys128Asn) c.321G>C (p.Lys107Asn) n.939G>C n.966G>C | |
14 | g.103100429G= | CA2160140058 | EXOC3L4 | c.210G= (p.Lys70=) c.102G= (p.Lys34=) c.384G= (p.Lys128=) c.321G= (p.Lys107=) n.939G= n.966G= | |
14 | g.103100429G>T | CA391081509 | EXOC3L4 | c.210G>T (p.Lys70Asn) c.102G>T (p.Lys34Asn) c.384G>T (p.Lys128Asn) c.321G>T (p.Lys107Asn) n.939G>T n.966G>T | gnomAD v4 |
14 | g.103100430del | CA7361819 | EXOC3L4 | c.211del (p.Glu71LysfsTer21) c.103del (p.Glu35LysfsTer21) c.385del (p.Glu129LysfsTer21) c.322del (p.Glu108LysfsTer21) n.940del n.967del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100430G>A | CA391081515 | EXOC3L4 | c.211G>A (p.Glu71Lys) c.103G>A (p.Glu35Lys) c.385G>A (p.Glu129Lys) c.322G>A (p.Glu108Lys) n.940G>A n.967G>A | |
14 | g.103100430G>C | CA391081518 | EXOC3L4 | c.211G>C (p.Glu71Gln) c.103G>C (p.Glu35Gln) c.385G>C (p.Glu129Gln) c.322G>C (p.Glu108Gln) n.940G>C n.967G>C | |
14 | g.103100430G>T | CA391081520 | EXOC3L4 | c.211G>T (p.Glu71Ter) c.103G>T (p.Glu35Ter) c.385G>T (p.Glu129Ter) c.322G>T (p.Glu108Ter) n.940G>T n.967G>T | |
14 | g.103100431A>C | CA391081525 | EXOC3L4 | c.212A>C (p.Glu71Ala) c.104A>C (p.Glu35Ala) c.386A>C (p.Glu129Ala) c.323A>C (p.Glu108Ala) n.941A>C n.968A>C | |
14 | g.103100431A>G | CA391081528 | EXOC3L4 | c.212A>G (p.Glu71Gly) c.104A>G (p.Glu35Gly) c.386A>G (p.Glu129Gly) c.323A>G (p.Glu108Gly) n.941A>G n.968A>G | |
14 | g.103100431A>T | CA391081531 | EXOC3L4 | c.212A>T (p.Glu71Val) c.104A>T (p.Glu35Val) c.386A>T (p.Glu129Val) c.323A>T (p.Glu108Val) n.941A>T n.968A>T | |
14 | g.103100432A>C | CA391081534 | EXOC3L4 | c.213A>C (p.Glu71Asp) c.105A>C (p.Glu35Asp) c.387A>C (p.Glu129Asp) c.324A>C (p.Glu108Asp) n.942A>C n.969A>C | |
14 | g.103100432A>G | CA488193856 | EXOC3L4 | c.213A>G (p.Glu71=) c.105A>G (p.Glu35=) c.387A>G (p.Glu129=) c.324A>G (p.Glu108=) n.942A>G n.969A>G | dbSNP |
14 | g.103100432A>T | CA391081537 | EXOC3L4 | c.213A>T (p.Glu71Asp) c.105A>T (p.Glu35Asp) c.387A>T (p.Glu129Asp) c.324A>T (p.Glu108Asp) n.942A>T n.969A>T | |
14 | g.103100433G>A | CA391081540 | EXOC3L4 | c.214G>A (p.Asp72Asn) c.106G>A (p.Asp36Asn) c.388G>A (p.Asp130Asn) c.325G>A (p.Asp109Asn) n.943G>A n.970G>A | |
14 | g.103100433G>C | CA7361820 | EXOC3L4 | c.214G>C (p.Asp72His) c.106G>C (p.Asp36His) c.388G>C (p.Asp130His) c.325G>C (p.Asp109His) n.943G>C n.970G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100433G= | CA2160140059 | EXOC3L4 | c.214G= (p.Asp72=) c.106G= (p.Asp36=) c.388G= (p.Asp130=) c.325G= (p.Asp109=) n.943G= n.970G= | |
14 | g.103100433G>T | CA391081543 | EXOC3L4 | c.214G>T (p.Asp72Tyr) c.106G>T (p.Asp36Tyr) c.388G>T (p.Asp130Tyr) c.325G>T (p.Asp109Tyr) n.943G>T n.970G>T | |
14 | g.103100434A>C | CA391081551 | EXOC3L4 | c.215A>C (p.Asp72Ala) c.107A>C (p.Asp36Ala) c.389A>C (p.Asp130Ala) c.326A>C (p.Asp109Ala) n.944A>C n.971A>C | |
14 | g.103100434A>G | CA391081555 | EXOC3L4 | c.215A>G (p.Asp72Gly) c.107A>G (p.Asp36Gly) c.389A>G (p.Asp130Gly) c.326A>G (p.Asp109Gly) n.944A>G n.971A>G | |
14 | g.103100434A>T | CA391081552 | EXOC3L4 | c.215A>T (p.Asp72Val) c.107A>T (p.Asp36Val) c.389A>T (p.Asp130Val) c.326A>T (p.Asp109Val) n.944A>T n.971A>T | |
14 | g.103100435T>A | CA391081556 | EXOC3L4 | c.216T>A (p.Asp72Glu) c.108T>A (p.Asp36Glu) c.390T>A (p.Asp130Glu) c.327T>A (p.Asp109Glu) n.945T>A n.972T>A | dbSNP gnomAD v4 |
14 | g.103100435T>C | CA7361821 | EXOC3L4 | c.216T>C (p.Asp72=) c.108T>C (p.Asp36=) c.390T>C (p.Asp130=) c.327T>C (p.Asp109=) n.945T>C n.972T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.103100435T>G | CA391081558 | EXOC3L4 | c.216T>G (p.Asp72Glu) c.108T>G (p.Asp36Glu) c.390T>G (p.Asp130Glu) c.327T>G (p.Asp109Glu) n.945T>G n.972T>G | |
14 | g.103100435T= | CA2160140060 | EXOC3L4 | c.216T= (p.Asp72=) c.108T= (p.Asp36=) c.390T= (p.Asp130=) c.327T= (p.Asp109=) n.945T= n.972T= | |
14 | g.103100436A= | CA2160140061 | EXOC3L4 | c.217A= (p.Thr73=) c.109A= (p.Thr37=) c.391A= (p.Thr131=) c.328A= (p.Thr110=) n.946A= n.973A= | |
14 | g.103100436A>C | CA391081562 | EXOC3L4 | c.217A>C (p.Thr73Pro) c.109A>C (p.Thr37Pro) c.391A>C (p.Thr131Pro) c.328A>C (p.Thr110Pro) n.946A>C n.973A>C | |
14 | g.103100436A>G | CA391081565 | EXOC3L4 | c.217A>G (p.Thr73Ala) c.109A>G (p.Thr37Ala) c.391A>G (p.Thr131Ala) c.328A>G (p.Thr110Ala) n.946A>G n.973A>G | |
14 | g.103100436A>T | CA267170826 | EXOC3L4 | c.217A>T (p.Thr73Ser) c.109A>T (p.Thr37Ser) c.391A>T (p.Thr131Ser) c.328A>T (p.Thr110Ser) n.946A>T n.973A>T | dbSNP |
14 | g.103100437C>A | CA391081567 | EXOC3L4 | c.218C>A (p.Thr73Lys) c.110C>A (p.Thr37Lys) c.392C>A (p.Thr131Lys) c.329C>A (p.Thr110Lys) n.947C>A n.974C>A | |
14 | g.103100437C= | CA2160140062 | EXOC3L4 | c.218C= (p.Thr73=) c.110C= (p.Thr37=) c.392C= (p.Thr131=) c.329C= (p.Thr110=) n.947C= n.974C= | |
14 | g.103100437C>G | CA391081569 | EXOC3L4 | c.218C>G (p.Thr73Arg) c.110C>G (p.Thr37Arg) c.392C>G (p.Thr131Arg) c.329C>G (p.Thr110Arg) n.947C>G n.974C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100437C>T | CA7361822 | EXOC3L4 | c.218C>T (p.Thr73Met) c.110C>T (p.Thr37Met) c.392C>T (p.Thr131Met) c.329C>T (p.Thr110Met) n.947C>T n.974C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100438G>A | CA7361823 | EXOC3L4 | c.219G>A (p.Thr73=) c.111G>A (p.Thr37=) c.393G>A (p.Thr131=) c.330G>A (p.Thr110=) n.948G>A n.975G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100438G>C | CA488193867 | EXOC3L4 | c.219G>C (p.Thr73=) c.111G>C (p.Thr37=) c.393G>C (p.Thr131=) c.330G>C (p.Thr110=) n.948G>C n.975G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100438G= | CA2160140063 | EXOC3L4 | c.219G= (p.Thr73=) c.111G= (p.Thr37=) c.393G= (p.Thr131=) c.330G= (p.Thr110=) n.948G= n.975G= | |
14 | g.103100438G>T | CA488193868 | EXOC3L4 | c.219G>T (p.Thr73=) c.111G>T (p.Thr37=) c.393G>T (p.Thr131=) c.330G>T (p.Thr110=) n.948G>T n.975G>T | gnomAD v4 |
14 | g.103100439G>A | CA391081576 | EXOC3L4 | c.220G>A (p.Gly74Ser) c.112G>A (p.Gly38Ser) c.394G>A (p.Gly132Ser) c.331G>A (p.Gly111Ser) n.949G>A n.976G>A | dbSNP |
14 | g.103100439G>C | CA391081578 | EXOC3L4 | c.220G>C (p.Gly74Arg) c.112G>C (p.Gly38Arg) c.394G>C (p.Gly132Arg) c.331G>C (p.Gly111Arg) n.949G>C n.976G>C | |
14 | g.103100439G= | CA2160140064 | EXOC3L4 | c.220G= (p.Gly74=) c.112G= (p.Gly38=) c.394G= (p.Gly132=) c.331G= (p.Gly111=) n.949G= n.976G= | |
14 | g.103100439G>T | CA391081580 | EXOC3L4 | c.220G>T (p.Gly74Cys) c.112G>T (p.Gly38Cys) c.394G>T (p.Gly132Cys) c.331G>T (p.Gly111Cys) n.949G>T n.976G>T | |
14 | g.103100440G>A | CA391081589 | EXOC3L4 | c.221G>A (p.Gly74Asp) c.113G>A (p.Gly38Asp) c.395G>A (p.Gly132Asp) c.332G>A (p.Gly111Asp) n.950G>A n.977G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100440G>C | CA391081591 | EXOC3L4 | c.221G>C (p.Gly74Ala) c.113G>C (p.Gly38Ala) c.395G>C (p.Gly132Ala) c.332G>C (p.Gly111Ala) n.950G>C n.977G>C | |
14 | g.103100440G= | CA2160140065 | EXOC3L4 | c.221G= (p.Gly74=) c.113G= (p.Gly38=) c.395G= (p.Gly132=) c.332G= (p.Gly111=) n.950G= n.977G= | |
14 | g.103100440G>T | CA391081593 | EXOC3L4 | c.221G>T (p.Gly74Val) c.113G>T (p.Gly38Val) c.395G>T (p.Gly132Val) c.332G>T (p.Gly111Val) n.950G>T n.977G>T | |
14 | g.103100441C>A | CA488193877 | EXOC3L4 | c.222C>A (p.Gly74=) c.114C>A (p.Gly38=) c.396C>A (p.Gly132=) c.333C>A (p.Gly111=) n.951C>A n.978C>A | gnomAD v4 |
14 | g.103100441C= | CA2160140066 | EXOC3L4 | c.222C= (p.Gly74=) c.114C= (p.Gly38=) c.396C= (p.Gly132=) c.333C= (p.Gly111=) n.951C= n.978C= | |
14 | g.103100441C>G | CA488193878 | EXOC3L4 | c.222C>G (p.Gly74=) c.114C>G (p.Gly38=) c.396C>G (p.Gly132=) c.333C>G (p.Gly111=) n.951C>G n.978C>G | |
14 | g.103100441C>T | CA488193875 | EXOC3L4 | c.222C>T (p.Gly74=) c.114C>T (p.Gly38=) c.396C>T (p.Gly132=) c.333C>T (p.Gly111=) n.951C>T n.978C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.103100442C>A | CA391081595 | EXOC3L4 | c.223C>A (p.Leu75Met) c.115C>A (p.Leu39Met) c.397C>A (p.Leu133Met) c.334C>A (p.Leu112Met) n.952C>A n.979C>A | |
14 | g.103100442C= | CA2160140067 | EXOC3L4 | c.223C= (p.Leu75=) c.115C= (p.Leu39=) c.397C= (p.Leu133=) c.334C= (p.Leu112=) n.952C= n.979C= | |
14 | g.103100442C>G | CA391081596 | EXOC3L4 | c.223C>G (p.Leu75Val) c.115C>G (p.Leu39Val) c.397C>G (p.Leu133Val) c.334C>G (p.Leu112Val) n.952C>G n.979C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100442C>T | CA488193879 | EXOC3L4 | c.223C>T (p.Leu75=) c.115C>T (p.Leu39=) c.397C>T (p.Leu133=) c.334C>T (p.Leu112=) n.952C>T n.979C>T | dbSNP gnomAD v4 |
14 | g.103100443T>A | CA391081600 | EXOC3L4 | c.224T>A (p.Leu75Gln) c.116T>A (p.Leu39Gln) c.398T>A (p.Leu133Gln) c.335T>A (p.Leu112Gln) n.953T>A n.980T>A | |
14 | g.103100443T>C | CA391081598 | EXOC3L4 | c.224T>C (p.Leu75Pro) c.116T>C (p.Leu39Pro) c.398T>C (p.Leu133Pro) c.335T>C (p.Leu112Pro) n.953T>C n.980T>C | gnomAD v4 |
14 | g.103100443T>G | CA391081599 | EXOC3L4 | c.224T>G (p.Leu75Arg) c.116T>G (p.Leu39Arg) c.398T>G (p.Leu133Arg) c.335T>G (p.Leu112Arg) n.953T>G n.980T>G | |
14 | g.103100444G>A | CA488193883 | EXOC3L4 | c.225G>A (p.Leu75=) c.117G>A (p.Leu39=) c.399G>A (p.Leu133=) c.336G>A (p.Leu112=) n.954G>A n.981G>A | |
14 | g.103100444G>C | CA488193881 | EXOC3L4 | c.225G>C (p.Leu75=) c.117G>C (p.Leu39=) c.399G>C (p.Leu133=) c.336G>C (p.Leu112=) n.954G>C n.981G>C | |
14 | g.103100444G>T | CA488193882 | EXOC3L4 | c.225G>T (p.Leu75=) c.117G>T (p.Leu39=) c.399G>T (p.Leu133=) c.336G>T (p.Leu112=) n.954G>T n.981G>T | |
14 | g.103100445T>A | CA391081603 | EXOC3L4 | c.226T>A (p.Phe76Ile) c.118T>A (p.Phe40Ile) c.400T>A (p.Phe134Ile) c.337T>A (p.Phe113Ile) n.955T>A n.982T>A | |
14 | g.103100445T>C | CA7361824 | EXOC3L4 | c.226T>C (p.Phe76Leu) c.118T>C (p.Phe40Leu) c.400T>C (p.Phe134Leu) c.337T>C (p.Phe113Leu) n.955T>C n.982T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.103100445T>G | CA391081605 | EXOC3L4 | c.226T>G (p.Phe76Val) c.118T>G (p.Phe40Val) c.400T>G (p.Phe134Val) c.337T>G (p.Phe113Val) n.955T>G n.982T>G | |
14 | g.103100445T= | CA2160140068 | EXOC3L4 | c.226T= (p.Phe76=) c.118T= (p.Phe40=) c.400T= (p.Phe134=) c.337T= (p.Phe113=) n.955T= n.982T= | |
14 | g.103100446T>A | CA391081608 | EXOC3L4 | c.227T>A (p.Phe76Tyr) c.119T>A (p.Phe40Tyr) c.401T>A (p.Phe134Tyr) c.338T>A (p.Phe113Tyr) n.956T>A n.983T>A | |
14 | g.103100446T>C | CA391081610 | EXOC3L4 | c.227T>C (p.Phe76Ser) c.119T>C (p.Phe40Ser) c.401T>C (p.Phe134Ser) c.338T>C (p.Phe113Ser) n.956T>C n.983T>C | |
14 | g.103100446T>G | CA391081612 | EXOC3L4 | c.227T>G (p.Phe76Cys) c.119T>G (p.Phe40Cys) c.401T>G (p.Phe134Cys) c.338T>G (p.Phe113Cys) n.956T>G n.983T>G | |
14 | g.103100446T= | CA2160140069 | EXOC3L4 | c.227T= (p.Phe76=) c.119T= (p.Phe40=) c.401T= (p.Phe134=) c.338T= (p.Phe113=) n.956T= n.983T= | |
14 | g.103100449_103100465dup | CA2626692203 | EXOC3L4 | c.230_246dup (p.Leu83GlyfsTer15) c.122_138dup (p.Leu47GlyfsTer15) c.404_420dup (p.Leu141GlyfsTer15) c.341_357dup (p.Leu120GlyfsTer15) n.959_975dup n.986_1002dup | gnomAD v4 |
14 | g.103100447C>A | CA391081614 | EXOC3L4 | c.228C>A (p.Phe76Leu) c.120C>A (p.Phe40Leu) c.402C>A (p.Phe134Leu) c.339C>A (p.Phe113Leu) n.957C>A n.984C>A | |
14 | g.103100447C>G | CA391081615 | EXOC3L4 | c.228C>G (p.Phe76Leu) c.120C>G (p.Phe40Leu) c.402C>G (p.Phe134Leu) c.339C>G (p.Phe113Leu) n.957C>G n.984C>G | gnomAD v4 |
14 | g.103100447C>T | CA488193891 | EXOC3L4 | c.228C>T (p.Phe76=) c.120C>T (p.Phe40=) c.402C>T (p.Phe134=) c.339C>T (p.Phe113=) n.957C>T n.984C>T | |
14 | g.103100448dup | CA703283854 | EXOC3L4 | c.229dup (p.Arg77ProfsTer17) c.121dup (p.Arg41ProfsTer17) c.403dup (p.Arg135ProfsTer17) c.340dup (p.Arg114ProfsTer17) n.958dup n.985dup | dbSNP gnomAD v3 gnomAD v4 |
14 | g.103100448C>A | CA488193892 | EXOC3L4 | c.229C>A (p.Arg77=) c.121C>A (p.Arg41=) c.403C>A (p.Arg135=) c.340C>A (p.Arg114=) n.958C>A n.985C>A | gnomAD v4 |
14 | g.103100448C= | CA2160140070 | EXOC3L4 | c.229C= (p.Arg77=) c.121C= (p.Arg41=) c.403C= (p.Arg135=) c.340C= (p.Arg114=) n.958C= n.985C= | |
14 | g.103100448C>G | CA391081618 | EXOC3L4 | c.229C>G (p.Arg77Gly) c.121C>G (p.Arg41Gly) c.403C>G (p.Arg135Gly) c.340C>G (p.Arg114Gly) n.958C>G n.985C>G | |
14 | g.103100448C>T | CA7361825 | EXOC3L4 | c.229C>T (p.Arg77Trp) c.121C>T (p.Arg41Trp) c.403C>T (p.Arg135Trp) c.340C>T (p.Arg114Trp) n.958C>T n.985C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100449G>A | CA7361826 | EXOC3L4 | c.230G>A (p.Arg77Gln) c.122G>A (p.Arg41Gln) c.404G>A (p.Arg135Gln) c.341G>A (p.Arg114Gln) n.959G>A n.986G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100449G>C | CA391081622 | EXOC3L4 | c.230G>C (p.Arg77Pro) c.122G>C (p.Arg41Pro) c.404G>C (p.Arg135Pro) c.341G>C (p.Arg114Pro) n.959G>C n.986G>C | |
14 | g.103100449G= | CA2160140071 | EXOC3L4 | c.230G= (p.Arg77=) c.122G= (p.Arg41=) c.404G= (p.Arg135=) c.341G= (p.Arg114=) n.959G= n.986G= | |
14 | g.103100449G>T | CA7361827 | EXOC3L4 | c.230G>T (p.Arg77Leu) c.122G>T (p.Arg41Leu) c.404G>T (p.Arg135Leu) c.341G>T (p.Arg114Leu) n.959G>T n.986G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100450G>A | CA488193899 | EXOC3L4 | c.231G>A (p.Arg77=) c.123G>A (p.Arg41=) c.405G>A (p.Arg135=) c.342G>A (p.Arg114=) n.960G>A n.987G>A | dbSNP gnomAD v4 |
14 | g.103100450G>C | CA488193901 | EXOC3L4 | c.231G>C (p.Arg77=) c.123G>C (p.Arg41=) c.405G>C (p.Arg135=) c.342G>C (p.Arg114=) n.960G>C n.987G>C | |
14 | g.103100450G= | CA2160140072 | EXOC3L4 | c.231G= (p.Arg77=) c.123G= (p.Arg41=) c.405G= (p.Arg135=) c.342G= (p.Arg114=) n.960G= n.987G= | |
14 | g.103100450G>T | CA488193902 | EXOC3L4 | c.231G>T (p.Arg77=) c.123G>T (p.Arg41=) c.405G>T (p.Arg135=) c.342G>T (p.Arg114=) n.960G>T n.987G>T | |
14 | g.103100451C>A | CA488193903 | EXOC3L4 | c.232C>A (p.Arg78=) c.124C>A (p.Arg42=) c.406C>A (p.Arg136=) c.343C>A (p.Arg115=) n.961C>A n.988C>A | gnomAD v4 |
14 | g.103100451C= | CA2160140073 | EXOC3L4 | c.232C= (p.Arg78=) c.124C= (p.Arg42=) c.406C= (p.Arg136=) c.343C= (p.Arg115=) n.961C= n.988C= | |
14 | g.103100451C>G | CA391081625 | EXOC3L4 | c.232C>G (p.Arg78Gly) c.124C>G (p.Arg42Gly) c.406C>G (p.Arg136Gly) c.343C>G (p.Arg115Gly) n.961C>G n.988C>G | dbSNP |
14 | g.103100451C>T | CA7361828 | EXOC3L4 | c.232C>T (p.Arg78Ter) c.124C>T (p.Arg42Ter) c.406C>T (p.Arg136Ter) c.343C>T (p.Arg115Ter) n.961C>T n.988C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100452G>A | CA7361829 | EXOC3L4 | c.233G>A (p.Arg78Gln) c.125G>A (p.Arg42Gln) c.407G>A (p.Arg136Gln) c.344G>A (p.Arg115Gln) n.962G>A n.989G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.103100452G>C | CA391081629 | EXOC3L4 | c.233G>C (p.Arg78Pro) c.125G>C (p.Arg42Pro) c.407G>C (p.Arg136Pro) c.344G>C (p.Arg115Pro) n.962G>C n.989G>C | |
14 | g.103100452G= | CA2160140074 | EXOC3L4 | c.233G= (p.Arg78=) c.125G= (p.Arg42=) c.407G= (p.Arg136=) c.344G= (p.Arg115=) n.962G= n.989G= | |
14 | g.103100452G>T | CA391081631 | EXOC3L4 | c.233G>T (p.Arg78Leu) c.125G>T (p.Arg42Leu) c.407G>T (p.Arg136Leu) c.344G>T (p.Arg115Leu) n.962G>T n.989G>T | |
14 | g.103100453A>C | CA488193905 | EXOC3L4 | c.234A>C (p.Arg78=) c.126A>C (p.Arg42=) c.408A>C (p.Arg136=) c.345A>C (p.Arg115=) n.963A>C n.990A>C | dbSNP |
14 | g.103100453A>G | CA488193906 | EXOC3L4 | c.234A>G (p.Arg78=) c.126A>G (p.Arg42=) c.408A>G (p.Arg136=) c.345A>G (p.Arg115=) n.963A>G n.990A>G | |
14 | g.103100453A>T | CA488193907 | EXOC3L4 | c.234A>T (p.Arg78=) c.126A>T (p.Arg42=) c.408A>T (p.Arg136=) c.345A>T (p.Arg115=) n.963A>T n.990A>T | |
14 | g.103100454A>C | CA391081632 | EXOC3L4 | c.235A>C (p.Ser79Arg) c.127A>C (p.Ser43Arg) c.409A>C (p.Ser137Arg) c.346A>C (p.Ser116Arg) n.964A>C n.991A>C | |
14 | g.103100454A>G | CA391081633 | EXOC3L4 | c.235A>G (p.Ser79Gly) c.127A>G (p.Ser43Gly) c.409A>G (p.Ser137Gly) c.346A>G (p.Ser116Gly) n.964A>G n.991A>G | |
14 | g.103100454A>T | CA391081634 | EXOC3L4 | c.235A>T (p.Ser79Cys) c.127A>T (p.Ser43Cys) c.409A>T (p.Ser137Cys) c.346A>T (p.Ser116Cys) n.964A>T n.991A>T | |
14 | g.103100455G>A | CA391081635 | EXOC3L4 | c.236G>A (p.Ser79Asn) c.128G>A (p.Ser43Asn) c.410G>A (p.Ser137Asn) c.347G>A (p.Ser116Asn) n.965G>A n.992G>A | |
14 | g.103100455G>C | CA391081636 | EXOC3L4 | c.236G>C (p.Ser79Thr) c.128G>C (p.Ser43Thr) c.410G>C (p.Ser137Thr) c.347G>C (p.Ser116Thr) n.965G>C n.992G>C | |
14 | g.103100455G>T | CA391081639 | EXOC3L4 | c.236G>T (p.Ser79Ile) c.128G>T (p.Ser43Ile) c.410G>T (p.Ser137Ile) c.347G>T (p.Ser116Ile) n.965G>T n.992G>T | |
14 | g.103100456C>A | CA391081641 | EXOC3L4 | c.237C>A (p.Ser79Arg) c.129C>A (p.Ser43Arg) c.411C>A (p.Ser137Arg) c.348C>A (p.Ser116Arg) n.966C>A n.993C>A | |
14 | g.103100456C>G | CA391081643 | EXOC3L4 | c.237C>G (p.Ser79Arg) c.129C>G (p.Ser43Arg) c.411C>G (p.Ser137Arg) c.348C>G (p.Ser116Arg) n.966C>G n.993C>G | |
14 | g.103100456C>T | CA488193913 | EXOC3L4 | c.237C>T (p.Ser79=) c.129C>T (p.Ser43=) c.411C>T (p.Ser137=) c.348C>T (p.Ser116=) n.966C>T n.993C>T | gnomAD v4 |
14 | g.103100457T>A | CA391081647 | EXOC3L4 | c.238T>A (p.Ser80Thr) c.130T>A (p.Ser44Thr) c.412T>A (p.Ser138Thr) c.349T>A (p.Ser117Thr) n.967T>A n.994T>A | |
14 | g.103100457T>C | CA391081644 | EXOC3L4 | c.238T>C (p.Ser80Pro) c.130T>C (p.Ser44Pro) c.412T>C (p.Ser138Pro) c.349T>C (p.Ser117Pro) n.967T>C n.994T>C | |
14 | g.103100457T>G | CA391081646 | EXOC3L4 | c.238T>G (p.Ser80Ala) c.130T>G (p.Ser44Ala) c.412T>G (p.Ser138Ala) c.349T>G (p.Ser117Ala) n.967T>G n.994T>G | |
14 | g.103100458C>A | CA391081648 | EXOC3L4 | c.239C>A (p.Ser80Tyr) c.131C>A (p.Ser44Tyr) c.413C>A (p.Ser138Tyr) c.350C>A (p.Ser117Tyr) n.968C>A n.995C>A | |
14 | g.103100458C>G | CA391081650 | EXOC3L4 | c.239C>G (p.Ser80Cys) c.131C>G (p.Ser44Cys) c.413C>G (p.Ser138Cys) c.350C>G (p.Ser117Cys) n.968C>G n.995C>G | |
14 | g.103100458C>T | CA391081651 | EXOC3L4 | c.239C>T (p.Ser80Phe) c.131C>T (p.Ser44Phe) c.413C>T (p.Ser138Phe) c.350C>T (p.Ser117Phe) n.968C>T n.995C>T | COSMIC |
14 | g.103100459C>A | CA488193919 | EXOC3L4 | c.240C>A (p.Ser80=) c.132C>A (p.Ser44=) c.414C>A (p.Ser138=) c.351C>A (p.Ser117=) n.969C>A n.996C>A | |
14 | g.103100459C= | CA2160140075 | EXOC3L4 | c.240C= (p.Ser80=) c.132C= (p.Ser44=) c.414C= (p.Ser138=) c.351C= (p.Ser117=) n.969C= n.996C= | |
14 | g.103100459C>G | CA488193921 | EXOC3L4 | c.240C>G (p.Ser80=) c.132C>G (p.Ser44=) c.414C>G (p.Ser138=) c.351C>G (p.Ser117=) n.969C>G n.996C>G | dbSNP |
14 | g.103100459C>T | CA267170863 | EXOC3L4 | c.240C>T (p.Ser80=) c.132C>T (p.Ser44=) c.414C>T (p.Ser138=) c.351C>T (p.Ser117=) n.969C>T n.996C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.103100460T>A | CA391081656 | EXOC3L4 | c.241T>A (p.Cys81Ser) c.133T>A (p.Cys45Ser) c.415T>A (p.Cys139Ser) c.352T>A (p.Cys118Ser) n.970T>A n.997T>A | |
14 | g.103100460T>C | CA391081658 | EXOC3L4 | c.241T>C (p.Cys81Arg) c.133T>C (p.Cys45Arg) c.415T>C (p.Cys139Arg) c.352T>C (p.Cys118Arg) n.970T>C n.997T>C | |
14 | g.103100460T>G | CA391081659 | EXOC3L4 | c.241T>G (p.Cys81Gly) c.133T>G (p.Cys45Gly) c.415T>G (p.Cys139Gly) c.352T>G (p.Cys118Gly) n.970T>G n.997T>G | |
14 | g.103100461G>A | CA391081660 | EXOC3L4 | c.242G>A (p.Cys81Tyr) c.134G>A (p.Cys45Tyr) c.416G>A (p.Cys139Tyr) c.353G>A (p.Cys118Tyr) n.971G>A n.998G>A | |
14 | g.103100461G>C | CA7361830 | EXOC3L4 | c.242G>C (p.Cys81Ser) c.134G>C (p.Cys45Ser) c.416G>C (p.Cys139Ser) c.353G>C (p.Cys118Ser) n.971G>C n.998G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.103100461G= | CA2160140076 | EXOC3L4 | c.242G= (p.Cys81=) c.134G= (p.Cys45=) c.416G= (p.Cys139=) c.353G= (p.Cys118=) n.971G= n.998G= | |
14 | g.103100461G>T | CA391081675 | EXOC3L4 | c.242G>T (p.Cys81Phe) c.134G>T (p.Cys45Phe) c.416G>T (p.Cys139Phe) c.353G>T (p.Cys118Phe) n.971G>T n.998G>T | |
14 | g.103100462C>A | CA391081678 | EXOC3L4 | c.243C>A (p.Cys81Ter) c.135C>A (p.Cys45Ter) c.417C>A (p.Cys139Ter) c.354C>A (p.Cys118Ter) n.972C>A n.999C>A | |
14 | g.103100462C>G | CA391081680 | EXOC3L4 | c.243C>G (p.Cys81Trp) c.135C>G (p.Cys45Trp) c.417C>G (p.Cys139Trp) c.354C>G (p.Cys118Trp) n.972C>G n.999C>G | |
14 | g.103100462C>T | CA488193929 | EXOC3L4 | c.243C>T (p.Cys81=) c.135C>T (p.Cys45=) c.417C>T (p.Cys139=) c.354C>T (p.Cys118=) n.972C>T n.999C>T | gnomAD v4 |
14 | g.103100463T>A | CA7361831 | EXOC3L4 | c.244T>A (p.Ser82Thr) c.136T>A (p.Ser46Thr) c.418T>A (p.Ser140Thr) c.355T>A (p.Ser119Thr) n.973T>A n.1000T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.103100463T>C | CA391081685 | EXOC3L4 | c.244T>C (p.Ser82Pro) c.136T>C (p.Ser46Pro) c.418T>C (p.Ser140Pro) c.355T>C (p.Ser119Pro) n.973T>C n.1000T>C | |
14 | g.103100463T>G | CA391081683 | EXOC3L4 | c.244T>G (p.Ser82Ala) c.136T>G (p.Ser46Ala) c.418T>G (p.Ser140Ala) c.355T>G (p.Ser119Ala) n.973T>G n.1000T>G | |
14 | g.103100463T= | CA2160140077 | EXOC3L4 | c.244T= (p.Ser82=) c.136T= (p.Ser46=) c.418T= (p.Ser140=) c.355T= (p.Ser119=) n.973T= n.1000T= |