| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.103100224C>A | CA391080806 | EXOC3L4 | c.5C>A (p.Pro2Gln) c.179C>A (p.Pro60Gln) c.116C>A (p.Pro39Gln) n.734C>A n.761C>A | gnomAD v4 |
| 14 | g.103100224C>G | CA391080804 | EXOC3L4 | c.5C>G (p.Pro2Arg) c.179C>G (p.Pro60Arg) c.116C>G (p.Pro39Arg) n.734C>G n.761C>G | gnomAD v4 |
| 14 | g.103100224C>T | CA391080805 | EXOC3L4 | c.5C>T (p.Pro2Leu) c.179C>T (p.Pro60Leu) c.116C>T (p.Pro39Leu) n.734C>T n.761C>T | gnomAD v4 |
| 14 | g.103100225A>C | CA488193548 | EXOC3L4 | c.6A>C (p.Pro2=) c.180A>C (p.Pro60=) c.117A>C (p.Pro39=) n.735A>C n.762A>C | |
| 14 | g.103100225A>G | CA488193549 | EXOC3L4 | c.6A>G (p.Pro2=) c.180A>G (p.Pro60=) c.117A>G (p.Pro39=) n.735A>G n.762A>G | gnomAD v4 |
| 14 | g.103100225A>T | CA488193550 | EXOC3L4 | c.6A>T (p.Pro2=) c.180A>T (p.Pro60=) c.117A>T (p.Pro39=) n.735A>T n.762A>T | |
| 14 | g.103100226T>A | CA391080807 | EXOC3L4 | c.7T>A (p.Ser3Thr) c.181T>A (p.Ser61Thr) c.118T>A (p.Ser40Thr) n.736T>A n.763T>A | |
| 14 | g.103100226T>C | CA7361784 | EXOC3L4 | c.7T>C (p.Ser3Pro) c.181T>C (p.Ser61Pro) c.118T>C (p.Ser40Pro) n.736T>C n.763T>C | dbSNP ExAC |
| 14 | g.103100226T>G | CA391080808 | EXOC3L4 | c.7T>G (p.Ser3Ala) c.181T>G (p.Ser61Ala) c.118T>G (p.Ser40Ala) n.736T>G n.763T>G | |
| 14 | g.103100226T= | CA2160139964 | EXOC3L4 | c.7T= (p.Ser3=) c.181T= (p.Ser61=) c.118T= (p.Ser40=) n.736T= n.763T= | |
| 14 | g.103100227C>A | CA391080809 | EXOC3L4 | c.8C>A (p.Ser3Ter) c.182C>A (p.Ser61Ter) c.119C>A (p.Ser40Ter) n.737C>A n.764C>A | gnomAD v4 |
| 14 | g.103100227C= | CA2160139965 | EXOC3L4 | c.8C= (p.Ser3=) c.182C= (p.Ser61=) c.119C= (p.Ser40=) n.737C= n.764C= | |
| 14 | g.103100227C>G | CA391080810 | EXOC3L4 | c.8C>G (p.Ser3Ter) c.182C>G (p.Ser61Ter) c.119C>G (p.Ser40Ter) n.737C>G n.764C>G | |
| 14 | g.103100227C>T | CA391080811 | EXOC3L4 | c.8C>T (p.Ser3Leu) c.182C>T (p.Ser61Leu) c.119C>T (p.Ser40Leu) n.737C>T n.764C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.103100228A>C | CA488193555 | EXOC3L4 | c.9A>C (p.Ser3=) c.183A>C (p.Ser61=) c.120A>C (p.Ser40=) n.738A>C n.765A>C | |
| 14 | g.103100228A>G | CA488193556 | EXOC3L4 | c.9A>G (p.Ser3=) c.183A>G (p.Ser61=) c.120A>G (p.Ser40=) n.738A>G n.765A>G | gnomAD v4 |
| 14 | g.103100228A>T | CA488193557 | EXOC3L4 | c.9A>T (p.Ser3=) c.183A>T (p.Ser61=) c.120A>T (p.Ser40=) n.738A>T n.765A>T | |
| 14 | g.103100229C>A | CA391080813 | EXOC3L4 | c.10C>A (p.Pro4Thr) c.184C>A (p.Pro62Thr) c.121C>A (p.Pro41Thr) n.739C>A n.766C>A | gnomAD v4 |
| 14 | g.103100229C= | CA2160139966 | EXOC3L4 | c.10C= (p.Pro4=) c.184C= (p.Pro62=) c.121C= (p.Pro41=) n.739C= n.766C= | |
| 14 | g.103100229C>G | CA391080812 | EXOC3L4 | c.10C>G (p.Pro4Ala) c.184C>G (p.Pro62Ala) c.121C>G (p.Pro41Ala) n.739C>G n.766C>G | |
| 14 | g.103100229C>T | CA7361785 | EXOC3L4 | c.10C>T (p.Pro4Ser) c.184C>T (p.Pro62Ser) c.121C>T (p.Pro41Ser) n.739C>T n.766C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100230C>A | CA391080814 | EXOC3L4 | c.11C>A (p.Pro4Gln) c.185C>A (p.Pro62Gln) c.122C>A (p.Pro41Gln) n.740C>A n.767C>A | gnomAD v4 |
| 14 | g.103100230C>G | CA391080815 | EXOC3L4 | c.11C>G (p.Pro4Arg) c.185C>G (p.Pro62Arg) c.122C>G (p.Pro41Arg) n.740C>G n.767C>G | |
| 14 | g.103100230C>T | CA391080816 | EXOC3L4 | c.11C>T (p.Pro4Leu) c.185C>T (p.Pro62Leu) c.122C>T (p.Pro41Leu) n.740C>T n.767C>T | gnomAD v4 |
| 14 | g.103100230_103100234delinsCACAG | CA2160139967 | EXOC3L4 | c.11_15delinsCACAG (p.Pro4=) c.185_189delinsCACAG (p.Pro62=) c.122_126delinsCACAG (p.Pro41=) n.740_744delinsCACAG n.767_771delinsCACAG | |
| 14 | g.103100231A>C | CA488193559 | EXOC3L4 | c.12A>C (p.Pro4=) c.186A>C (p.Pro62=) c.123A>C (p.Pro41=) n.741A>C n.768A>C | |
| 14 | g.103100231A>G | CA488193561 | EXOC3L4 | c.12A>G (p.Pro4=) c.186A>G (p.Pro62=) c.123A>G (p.Pro41=) n.741A>G n.768A>G | |
| 14 | g.103100231A>T | CA488193560 | EXOC3L4 | c.12A>T (p.Pro4=) c.186A>T (p.Pro62=) c.123A>T (p.Pro41=) n.741A>T n.768A>T | |
| 14 | g.103100238_103100241dup | CA2626692189 | EXOC3L4 | c.19_22dup (p.Thr8ArgfsTer14) c.193_196dup (p.Thr66ArgfsTer14) c.130_133dup (p.Thr45ArgfsTer14) n.748_751dup n.775_778dup | gnomAD v4 |
| 14 | g.103100238_103100241del | CA2160139968 | EXOC3L4 | c.19_22del (p.Asp7LeufsTer?) c.193_196del (p.Asp65LeufsTer?) c.130_133del (p.Asp44LeufsTer?) n.748_751del n.775_778del | dbSNP gnomAD v4 |
| 14 | g.103100232C>A | CA391080817 | EXOC3L4 | c.13C>A (p.Gln5Lys) c.187C>A (p.Gln63Lys) c.124C>A (p.Gln42Lys) n.742C>A n.769C>A | gnomAD v4 |
| 14 | g.103100232C= | CA2160139969 | EXOC3L4 | c.13C= (p.Gln5=) c.187C= (p.Gln63=) c.124C= (p.Gln42=) n.742C= n.769C= | |
| 14 | g.103100232C>G | CA391080818 | EXOC3L4 | c.13C>G (p.Gln5Glu) c.187C>G (p.Gln63Glu) c.124C>G (p.Gln42Glu) n.742C>G n.769C>G | COSMIC |
| 14 | g.103100232C>T | CA391080819 | EXOC3L4 | c.13C>T (p.Gln5Ter) c.187C>T (p.Gln63Ter) c.124C>T (p.Gln42Ter) n.742C>T n.769C>T | dbSNP gnomAD v2 |
| 14 | g.103100233A>C | CA391080820 | EXOC3L4 | c.14A>C (p.Gln5Pro) c.188A>C (p.Gln63Pro) c.125A>C (p.Gln42Pro) n.743A>C n.770A>C | |
| 14 | g.103100233A>G | CA391080822 | EXOC3L4 | c.14A>G (p.Gln5Arg) c.188A>G (p.Gln63Arg) c.125A>G (p.Gln42Arg) n.743A>G n.770A>G | |
| 14 | g.103100233A>T | CA391080821 | EXOC3L4 | c.14A>T (p.Gln5Leu) c.188A>T (p.Gln63Leu) c.125A>T (p.Gln42Leu) n.743A>T n.770A>T | gnomAD v4 |
| 14 | g.103100234G>A | CA488193565 | EXOC3L4 | c.15G>A (p.Gln5=) c.189G>A (p.Gln63=) c.126G>A (p.Gln42=) n.744G>A n.771G>A | dbSNP gnomAD v4 |
| 14 | g.103100234G>C | CA391080823 | EXOC3L4 | c.15G>C (p.Gln5His) c.189G>C (p.Gln63His) c.126G>C (p.Gln42His) n.744G>C n.771G>C | |
| 14 | g.103100234G= | CA2160139970 | EXOC3L4 | c.15G= (p.Gln5=) c.189G= (p.Gln63=) c.126G= (p.Gln42=) n.744G= n.771G= | |
| 14 | g.103100234G>T | CA391080824 | EXOC3L4 | c.15G>T (p.Gln5His) c.189G>T (p.Gln63His) c.126G>T (p.Gln42His) n.744G>T n.771G>T | gnomAD v4 |
| 14 | g.103100235A>C | CA391080825 | EXOC3L4 | c.16A>C (p.Thr6Pro) c.190A>C (p.Thr64Pro) c.127A>C (p.Thr43Pro) n.745A>C n.772A>C | |
| 14 | g.103100235A>G | CA391080826 | EXOC3L4 | c.16A>G (p.Thr6Ala) c.190A>G (p.Thr64Ala) c.127A>G (p.Thr43Ala) n.745A>G n.772A>G | gnomAD v4 |
| 14 | g.103100235A>T | CA391080827 | EXOC3L4 | c.16A>T (p.Thr6Ser) c.190A>T (p.Thr64Ser) c.127A>T (p.Thr43Ser) n.745A>T n.772A>T | |
| 14 | g.103100236C>A | CA391080828 | EXOC3L4 | c.17C>A (p.Thr6Lys) c.191C>A (p.Thr64Lys) c.128C>A (p.Thr43Lys) n.746C>A n.773C>A | gnomAD v4 |
| 14 | g.103100236C= | CA2160139971 | EXOC3L4 | c.17C= (p.Thr6=) c.191C= (p.Thr64=) c.128C= (p.Thr43=) n.746C= n.773C= | |
| 14 | g.103100236C>G | CA391080829 | EXOC3L4 | c.17C>G (p.Thr6Arg) c.191C>G (p.Thr64Arg) c.128C>G (p.Thr43Arg) n.746C>G n.773C>G | dbSNP gnomAD v4 |
| 14 | g.103100236C>T | CA391080830 | EXOC3L4 | c.17C>T (p.Thr6Ile) c.191C>T (p.Thr64Ile) c.128C>T (p.Thr43Ile) n.746C>T n.773C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100237A>C | CA488193570 | EXOC3L4 | c.18A>C (p.Thr6=) c.192A>C (p.Thr64=) c.129A>C (p.Thr43=) n.747A>C n.774A>C | gnomAD v4 |
| 14 | g.103100237A>G | CA488193572 | EXOC3L4 | c.18A>G (p.Thr6=) c.192A>G (p.Thr64=) c.129A>G (p.Thr43=) n.747A>G n.774A>G | gnomAD v4 |
| 14 | g.103100237A>T | CA488193573 | EXOC3L4 | c.18A>T (p.Thr6=) c.192A>T (p.Thr64=) c.129A>T (p.Thr43=) n.747A>T n.774A>T | |
| 14 | g.103100238G>A | CA391080831 | EXOC3L4 | c.19G>A (p.Asp7Asn) c.193G>A (p.Asp65Asn) c.130G>A (p.Asp44Asn) n.748G>A n.775G>A | |
| 14 | g.103100238G>C | CA391080832 | EXOC3L4 | c.19G>C (p.Asp7His) c.193G>C (p.Asp65His) c.130G>C (p.Asp44His) n.748G>C n.775G>C | gnomAD v4 |
| 14 | g.103100238G>T | CA391080833 | EXOC3L4 | c.19G>T (p.Asp7Tyr) c.193G>T (p.Asp65Tyr) c.130G>T (p.Asp44Tyr) n.748G>T n.775G>T | |
| 14 | g.103100239A>C | CA391080836 | EXOC3L4 | c.20A>C (p.Asp7Ala) c.194A>C (p.Asp65Ala) c.131A>C (p.Asp44Ala) n.749A>C n.776A>C | |
| 14 | g.103100239A>G | CA391080834 | EXOC3L4 | c.20A>G (p.Asp7Gly) c.194A>G (p.Asp65Gly) c.131A>G (p.Asp44Gly) n.749A>G n.776A>G | |
| 14 | g.103100239A>T | CA391080835 | EXOC3L4 | c.20A>T (p.Asp7Val) c.194A>T (p.Asp65Val) c.131A>T (p.Asp44Val) n.749A>T n.776A>T | |
| 14 | g.103100240C>A | CA391080837 | EXOC3L4 | c.21C>A (p.Asp7Glu) c.195C>A (p.Asp65Glu) c.132C>A (p.Asp44Glu) n.750C>A n.777C>A | gnomAD v4 |
| 14 | g.103100240C= | CA2160139972 | EXOC3L4 | c.21C= (p.Asp7=) c.195C= (p.Asp65=) c.132C= (p.Asp44=) n.750C= n.777C= | |
| 14 | g.103100240C>G | CA391080838 | EXOC3L4 | c.21C>G (p.Asp7Glu) c.195C>G (p.Asp65Glu) c.132C>G (p.Asp44Glu) n.750C>G n.777C>G | |
| 14 | g.103100240C>T | CA488193578 | EXOC3L4 | c.21C>T (p.Asp7=) c.195C>T (p.Asp65=) c.132C>T (p.Asp44=) n.750C>T n.777C>T | dbSNP gnomAD v4 |
| 14 | g.103100241A= | CA2160139973 | EXOC3L4 | c.22A= (p.Thr8=) c.196A= (p.Thr66=) c.133A= (p.Thr45=) n.751A= n.778A= | |
| 14 | g.103100241A>C | CA391080839 | EXOC3L4 | c.22A>C (p.Thr8Pro) c.196A>C (p.Thr66Pro) c.133A>C (p.Thr45Pro) n.751A>C n.778A>C | gnomAD v4 |
| 14 | g.103100241A>G | CA391080840 | EXOC3L4 | c.22A>G (p.Thr8Ala) c.196A>G (p.Thr66Ala) c.133A>G (p.Thr45Ala) n.751A>G n.778A>G | |
| 14 | g.103100241A>T | CA391080841 | EXOC3L4 | c.22A>T (p.Thr8Ser) c.196A>T (p.Thr66Ser) c.133A>T (p.Thr45Ser) n.751A>T n.778A>T | dbSNP |
| 14 | g.103100242C>A | CA391080842 | EXOC3L4 | c.23C>A (p.Thr8Asn) c.197C>A (p.Thr66Asn) c.134C>A (p.Thr45Asn) n.752C>A n.779C>A | gnomAD v4 |
| 14 | g.103100242C= | CA2160139974 | EXOC3L4 | c.23C= (p.Thr8=) c.197C= (p.Thr66=) c.134C= (p.Thr45=) n.752C= n.779C= | |
| 14 | g.103100242C>G | CA391080843 | EXOC3L4 | c.23C>G (p.Thr8Ser) c.197C>G (p.Thr66Ser) c.134C>G (p.Thr45Ser) n.752C>G n.779C>G | |
| 14 | g.103100242C>T | CA7361786 | EXOC3L4 | c.23C>T (p.Thr8Ile) c.197C>T (p.Thr66Ile) c.134C>T (p.Thr45Ile) n.752C>T n.779C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100243T>A | CA488193585 | EXOC3L4 | c.24T>A (p.Thr8=) c.198T>A (p.Thr66=) c.135T>A (p.Thr45=) n.753T>A n.780T>A | |
| 14 | g.103100243T>C | CA7361787 | EXOC3L4 | c.24T>C (p.Thr8=) c.198T>C (p.Thr66=) c.135T>C (p.Thr45=) n.753T>C n.780T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100243T>G | CA488193587 | EXOC3L4 | c.24T>G (p.Thr8=) c.198T>G (p.Thr66=) c.135T>G (p.Thr45=) n.753T>G n.780T>G | |
| 14 | g.103100243T= | CA2160139975 | EXOC3L4 | c.24T= (p.Thr8=) c.198T= (p.Thr66=) c.135T= (p.Thr45=) n.753T= n.780T= | |
| 14 | g.103100244C>A | CA267170668 | EXOC3L4 | c.25C>A (p.Pro9Thr) c.199C>A (p.Pro67Thr) c.136C>A (p.Pro46Thr) n.754C>A n.781C>A | dbSNP gnomAD v4 |
| 14 | g.103100244C= | CA2160139976 | EXOC3L4 | c.25C= (p.Pro9=) c.199C= (p.Pro67=) c.136C= (p.Pro46=) n.754C= n.781C= | |
| 14 | g.103100244C>G | CA391080844 | EXOC3L4 | c.25C>G (p.Pro9Ala) c.199C>G (p.Pro67Ala) c.136C>G (p.Pro46Ala) n.754C>G n.781C>G | |
| 14 | g.103100244C>T | CA267170670 | EXOC3L4 | c.25C>T (p.Pro9Ser) c.199C>T (p.Pro67Ser) c.136C>T (p.Pro46Ser) n.754C>T n.781C>T | dbSNP gnomAD v2 |
| 14 | g.103100245C>A | CA391080845 | EXOC3L4 | c.26C>A (p.Pro9His) c.200C>A (p.Pro67His) c.137C>A (p.Pro46His) n.755C>A n.782C>A | gnomAD v4 |
| 14 | g.103100245C>G | CA391080846 | EXOC3L4 | c.26C>G (p.Pro9Arg) c.200C>G (p.Pro67Arg) c.137C>G (p.Pro46Arg) n.755C>G n.782C>G | |
| 14 | g.103100245C>T | CA391080847 | EXOC3L4 | c.26C>T (p.Pro9Leu) c.200C>T (p.Pro67Leu) c.137C>T (p.Pro46Leu) n.755C>T n.782C>T | gnomAD v4 |
| 14 | g.103100246T>A | CA488193592 | EXOC3L4 | c.27T>A (p.Pro9=) c.201T>A (p.Pro67=) c.138T>A (p.Pro46=) n.756T>A n.783T>A | |
| 14 | g.103100246T>C | CA7361788 | EXOC3L4 | c.27T>C (p.Pro9=) c.201T>C (p.Pro67=) c.138T>C (p.Pro46=) n.756T>C n.783T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100246T>G | CA488193594 | EXOC3L4 | c.27T>G (p.Pro9=) c.201T>G (p.Pro67=) c.138T>G (p.Pro46=) n.756T>G n.783T>G | |
| 14 | g.103100246T= | CA2160139977 | EXOC3L4 | c.27T= (p.Pro9=) c.201T= (p.Pro67=) c.138T= (p.Pro46=) n.756T= n.783T= | |
| 14 | g.103100247G>A | CA391080848 | EXOC3L4 | c.28G>A (p.Gly10Arg) c.202G>A (p.Gly68Arg) c.139G>A (p.Gly47Arg) n.757G>A n.784G>A | gnomAD v4 |
| 14 | g.103100247G>C | CA391080849 | EXOC3L4 | c.28G>C (p.Gly10Arg) c.202G>C (p.Gly68Arg) c.139G>C (p.Gly47Arg) n.757G>C n.784G>C | |
| 14 | g.103100247G= | CA2160139978 | EXOC3L4 | c.28G= (p.Gly10=) c.202G= (p.Gly68=) c.139G= (p.Gly47=) n.757G= n.784G= | |
| 14 | g.103100247G>T | CA7361789 | EXOC3L4 | c.28G>T (p.Gly10Trp) c.202G>T (p.Gly68Trp) c.139G>T (p.Gly47Trp) n.757G>T n.784G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100249del | CA2626692192 | EXOC3L4 | c.30del (p.Pro11ArgfsTer?) c.204del (p.Pro69ArgfsTer?) c.141del (p.Pro48ArgfsTer?) n.759del n.786del | gnomAD v4 |
| 14 | g.103100248G>A | CA391080850 | EXOC3L4 | c.29G>A (p.Gly10Glu) c.203G>A (p.Gly68Glu) c.140G>A (p.Gly47Glu) n.758G>A n.785G>A | |
| 14 | g.103100248G>C | CA391080851 | EXOC3L4 | c.29G>C (p.Gly10Ala) c.203G>C (p.Gly68Ala) c.140G>C (p.Gly47Ala) n.758G>C n.785G>C | |
| 14 | g.103100248G>T | CA391080852 | EXOC3L4 | c.29G>T (p.Gly10Val) c.203G>T (p.Gly68Val) c.140G>T (p.Gly47Val) n.758G>T n.785G>T | gnomAD v4 |
| 14 | g.103100249G>A | CA488193600 | EXOC3L4 | c.30G>A (p.Gly10=) c.204G>A (p.Gly68=) c.141G>A (p.Gly47=) n.759G>A n.786G>A | gnomAD v4 |
| 14 | g.103100249G>C | CA488193602 | EXOC3L4 | c.30G>C (p.Gly10=) c.204G>C (p.Gly68=) c.141G>C (p.Gly47=) n.759G>C n.786G>C | |
| 14 | g.103100249G>T | CA488193603 | EXOC3L4 | c.30G>T (p.Gly10=) c.204G>T (p.Gly68=) c.141G>T (p.Gly47=) n.759G>T n.786G>T | gnomAD v4 |
| 14 | g.103100250C>A | CA391080853 | EXOC3L4 | c.31C>A (p.Pro11Thr) c.205C>A (p.Pro69Thr) c.142C>A (p.Pro48Thr) n.760C>A n.787C>A | gnomAD v4 |
| 14 | g.103100250C= | CA2160139979 | EXOC3L4 | c.31C= (p.Pro11=) c.205C= (p.Pro69=) c.142C= (p.Pro48=) n.760C= n.787C= | |
| 14 | g.103100250C>G | CA391080854 | EXOC3L4 | c.31C>G (p.Pro11Ala) c.205C>G (p.Pro69Ala) c.142C>G (p.Pro48Ala) n.760C>G n.787C>G | |
| 14 | g.103100250C>T | CA7361790 | EXOC3L4 | c.31C>T (p.Pro11Ser) c.205C>T (p.Pro69Ser) c.142C>T (p.Pro48Ser) n.760C>T n.787C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100251C>A | CA391080855 | EXOC3L4 | c.32C>A (p.Pro11Gln) c.206C>A (p.Pro69Gln) c.143C>A (p.Pro48Gln) n.761C>A n.788C>A | gnomAD v4 |
| 14 | g.103100251C= | CA2160139980 | EXOC3L4 | c.32C= (p.Pro11=) c.206C= (p.Pro69=) c.143C= (p.Pro48=) n.761C= n.788C= | |
| 14 | g.103100251C>G | CA7361791 | EXOC3L4 | c.32C>G (p.Pro11Arg) c.206C>G (p.Pro69Arg) c.143C>G (p.Pro48Arg) n.761C>G n.788C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100251C>T | CA7361792 | EXOC3L4 | c.32C>T (p.Pro11Leu) c.206C>T (p.Pro69Leu) c.143C>T (p.Pro48Leu) n.761C>T n.788C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100252G>A | CA7361793 | EXOC3L4 | c.33G>A (p.Pro11=) c.207G>A (p.Pro69=) c.144G>A (p.Pro48=) n.762G>A n.789G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100252G>C | CA488193610 | EXOC3L4 | c.33G>C (p.Pro11=) c.207G>C (p.Pro69=) c.144G>C (p.Pro48=) n.762G>C n.789G>C | |
| 14 | g.103100252G= | CA2160139981 | EXOC3L4 | c.33G= (p.Pro11=) c.207G= (p.Pro69=) c.144G= (p.Pro48=) n.762G= n.789G= | |
| 14 | g.103100252G>T | CA488193611 | EXOC3L4 | c.33G>T (p.Pro11=) c.207G>T (p.Pro69=) c.144G>T (p.Pro48=) n.762G>T n.789G>T | gnomAD v4 |
| 14 | g.103100253G>A | CA391080858 | EXOC3L4 | c.34G>A (p.Glu12Lys) c.208G>A (p.Glu70Lys) c.145G>A (p.Glu49Lys) n.763G>A n.790G>A | gnomAD v4 |
| 14 | g.103100253G>C | CA391080857 | EXOC3L4 | c.34G>C (p.Glu12Gln) c.208G>C (p.Glu70Gln) c.145G>C (p.Glu49Gln) n.763G>C n.790G>C | gnomAD v4 |
| 14 | g.103100253G>T | CA391080856 | EXOC3L4 | c.34G>T (p.Glu12Ter) c.208G>T (p.Glu70Ter) c.145G>T (p.Glu49Ter) n.763G>T n.790G>T | gnomAD v4 |
| 14 | g.103100254A= | CA2160139982 | EXOC3L4 | c.35A= (p.Glu12=) c.209A= (p.Glu70=) c.146A= (p.Glu49=) n.764A= n.791A= | |
| 14 | g.103100254A>C | CA391080861 | EXOC3L4 | c.35A>C (p.Glu12Ala) c.209A>C (p.Glu70Ala) c.146A>C (p.Glu49Ala) n.764A>C n.791A>C | |
| 14 | g.103100254A>G | CA391080859 | EXOC3L4 | c.35A>G (p.Glu12Gly) c.209A>G (p.Glu70Gly) c.146A>G (p.Glu49Gly) n.764A>G n.791A>G | dbSNP gnomAD v2 |
| 14 | g.103100254A>T | CA391080860 | EXOC3L4 | c.35A>T (p.Glu12Val) c.209A>T (p.Glu70Val) c.146A>T (p.Glu49Val) n.764A>T n.791A>T | |
| 14 | g.103100255G>A | CA488193617 | EXOC3L4 | c.36G>A (p.Glu12=) c.210G>A (p.Glu70=) c.147G>A (p.Glu49=) n.765G>A n.792G>A | gnomAD v4 |
| 14 | g.103100255G>C | CA391080862 | EXOC3L4 | c.36G>C (p.Glu12Asp) c.210G>C (p.Glu70Asp) c.147G>C (p.Glu49Asp) n.765G>C n.792G>C | |
| 14 | g.103100255G>T | CA391080863 | EXOC3L4 | c.36G>T (p.Glu12Asp) c.210G>T (p.Glu70Asp) c.147G>T (p.Glu49Asp) n.765G>T n.792G>T | gnomAD v4 |
| 14 | g.103100256C>A | CA391080864 | EXOC3L4 | c.37C>A (p.Leu13Met) c.211C>A (p.Leu71Met) c.148C>A (p.Leu50Met) n.766C>A n.793C>A | gnomAD v4 |
| 14 | g.103100256C>G | CA391080865 | EXOC3L4 | c.37C>G (p.Leu13Val) c.211C>G (p.Leu71Val) c.148C>G (p.Leu50Val) n.766C>G n.793C>G | |
| 14 | g.103100256C>T | CA488193619 | EXOC3L4 | c.37C>T (p.Leu13=) c.211C>T (p.Leu71=) c.148C>T (p.Leu50=) n.766C>T n.793C>T | |
| 14 | g.103100257T>A | CA391080866 | EXOC3L4 | c.38T>A (p.Leu13Gln) c.212T>A (p.Leu71Gln) c.149T>A (p.Leu50Gln) n.767T>A n.794T>A | |
| 14 | g.103100257T>C | CA391080867 | EXOC3L4 | c.38T>C (p.Leu13Pro) c.212T>C (p.Leu71Pro) c.149T>C (p.Leu50Pro) n.767T>C n.794T>C | gnomAD v4 |
| 14 | g.103100257T>G | CA391080868 | EXOC3L4 | c.38T>G (p.Leu13Arg) c.212T>G (p.Leu71Arg) c.149T>G (p.Leu50Arg) n.767T>G n.794T>G | |
| 14 | g.103100258G>A | CA488193624 | EXOC3L4 | c.39G>A (p.Leu13=) c.213G>A (p.Leu71=) c.150G>A (p.Leu50=) n.768G>A n.795G>A | gnomAD v4 |
| 14 | g.103100258G>C | CA488193625 | EXOC3L4 | c.39G>C (p.Leu13=) c.213G>C (p.Leu71=) c.150G>C (p.Leu50=) n.768G>C n.795G>C | |
| 14 | g.103100258G>T | CA488193626 | EXOC3L4 | c.39G>T (p.Leu13=) c.213G>T (p.Leu71=) c.150G>T (p.Leu50=) n.768G>T n.795G>T | gnomAD v4 |
| 14 | g.103100259C>A | CA391080869 | EXOC3L4 | c.40C>A (p.Gln14Lys) c.214C>A (p.Gln72Lys) c.151C>A (p.Gln51Lys) n.769C>A n.796C>A | gnomAD v4 |
| 14 | g.103100259C>G | CA391080870 | EXOC3L4 | c.40C>G (p.Gln14Glu) c.214C>G (p.Gln72Glu) c.151C>G (p.Gln51Glu) n.769C>G n.796C>G | gnomAD v4 |
| 14 | g.103100259C>T | CA391080871 | EXOC3L4 | c.40C>T (p.Gln14Ter) c.214C>T (p.Gln72Ter) c.151C>T (p.Gln51Ter) n.769C>T n.796C>T | gnomAD v4 |
| 14 | g.103100260A= | CA2160139983 | EXOC3L4 | c.41A= (p.Gln14=) c.215A= (p.Gln72=) c.152A= (p.Gln51=) n.770A= n.797A= | |
| 14 | g.103100260A>C | CA391080874 | EXOC3L4 | c.41A>C (p.Gln14Pro) c.215A>C (p.Gln72Pro) c.152A>C (p.Gln51Pro) n.770A>C n.797A>C | |
| 14 | g.103100260A>G | CA391080873 | EXOC3L4 | c.41A>G (p.Gln14Arg) c.215A>G (p.Gln72Arg) c.152A>G (p.Gln51Arg) n.770A>G n.797A>G | dbSNP |
| 14 | g.103100260A>T | CA391080872 | EXOC3L4 | c.41A>T (p.Gln14Leu) c.215A>T (p.Gln72Leu) c.152A>T (p.Gln51Leu) n.770A>T n.797A>T | |
| 14 | g.103100261G>A | CA488193629 | EXOC3L4 | c.42G>A (p.Gln14=) c.216G>A (p.Gln72=) c.153G>A (p.Gln51=) n.771G>A n.798G>A | |
| 14 | g.103100261G>C | CA391080875 | EXOC3L4 | c.42G>C (p.Gln14His) c.216G>C (p.Gln72His) c.153G>C (p.Gln51His) n.771G>C n.798G>C | |
| 14 | g.103100261G>T | CA391080876 | EXOC3L4 | c.42G>T (p.Gln14His) c.216G>T (p.Gln72His) c.153G>T (p.Gln51His) n.771G>T n.798G>T | gnomAD v4 |
| 14 | g.103100262A>C | CA391080877 | EXOC3L4 | c.43A>C (p.Ser15Arg) c.217A>C (p.Ser73Arg) c.154A>C (p.Ser52Arg) n.772A>C n.799A>C | |
| 14 | g.103100262A>G | CA391080878 | EXOC3L4 | c.43A>G (p.Ser15Gly) c.217A>G (p.Ser73Gly) c.154A>G (p.Ser52Gly) n.772A>G n.799A>G | gnomAD v4 |
| 14 | g.103100262A>T | CA391080879 | EXOC3L4 | c.43A>T (p.Ser15Cys) c.217A>T (p.Ser73Cys) c.154A>T (p.Ser52Cys) n.772A>T n.799A>T | |
| 14 | g.103100263G>A | CA391080880 | EXOC3L4 | c.44G>A (p.Ser15Asn) c.218G>A (p.Ser73Asn) c.155G>A (p.Ser52Asn) n.773G>A n.800G>A | |
| 14 | g.103100263G>C | CA391080881 | EXOC3L4 | c.44G>C (p.Ser15Thr) c.218G>C (p.Ser73Thr) c.155G>C (p.Ser52Thr) n.773G>C n.800G>C | |
| 14 | g.103100263G>T | CA391080882 | EXOC3L4 | c.44G>T (p.Ser15Ile) c.218G>T (p.Ser73Ile) c.155G>T (p.Ser52Ile) n.773G>T n.800G>T | gnomAD v4 |
| 14 | g.103100264T>A | CA391080883 | EXOC3L4 | c.45T>A (p.Ser15Arg) c.219T>A (p.Ser73Arg) c.156T>A (p.Ser52Arg) n.774T>A n.801T>A | |
| 14 | g.103100264T>C | CA488193635 | EXOC3L4 | c.45T>C (p.Ser15=) c.219T>C (p.Ser73=) c.156T>C (p.Ser52=) n.774T>C n.801T>C | |
| 14 | g.103100264T>G | CA391080884 | EXOC3L4 | c.45T>G (p.Ser15Arg) c.219T>G (p.Ser73Arg) c.156T>G (p.Ser52Arg) n.774T>G n.801T>G | |
| 14 | g.103100265C>A | CA391080885 | EXOC3L4 | c.46C>A (p.Pro16Thr) c.220C>A (p.Pro74Thr) c.157C>A (p.Pro53Thr) n.775C>A n.802C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100265C= | CA2160139984 | EXOC3L4 | c.46C= (p.Pro16=) c.220C= (p.Pro74=) c.157C= (p.Pro53=) n.775C= n.802C= | |
| 14 | g.103100265C>G | CA391080886 | EXOC3L4 | c.46C>G (p.Pro16Ala) c.220C>G (p.Pro74Ala) c.157C>G (p.Pro53Ala) n.775C>G n.802C>G | |
| 14 | g.103100265C>T | CA391080887 | EXOC3L4 | c.46C>T (p.Pro16Ser) c.220C>T (p.Pro74Ser) c.157C>T (p.Pro53Ser) n.775C>T n.802C>T | |
| 14 | g.103100266C>A | CA391080889 | EXOC3L4 | c.47C>A (p.Pro16His) c.221C>A (p.Pro74His) c.158C>A (p.Pro53His) n.776C>A n.803C>A | gnomAD v4 |
| 14 | g.103100266C>G | CA391080890 | EXOC3L4 | c.47C>G (p.Pro16Arg) c.221C>G (p.Pro74Arg) c.158C>G (p.Pro53Arg) n.776C>G n.803C>G | |
| 14 | g.103100266C>T | CA391080888 | EXOC3L4 | c.47C>T (p.Pro16Leu) c.221C>T (p.Pro74Leu) c.158C>T (p.Pro53Leu) n.776C>T n.803C>T | |
| 14 | g.103100267C>A | CA488193643 | EXOC3L4 | c.48C>A (p.Pro16=) c.222C>A (p.Pro74=) c.159C>A (p.Pro53=) n.777C>A n.804C>A | gnomAD v4 |
| 14 | g.103100267C>G | CA488193645 | EXOC3L4 | c.48C>G (p.Pro16=) c.222C>G (p.Pro74=) c.159C>G (p.Pro53=) n.777C>G n.804C>G | |
| 14 | g.103100267C>T | CA488193646 | EXOC3L4 | c.48C>T (p.Pro16=) c.222C>T (p.Pro74=) c.159C>T (p.Pro53=) n.777C>T n.804C>T | |
| 14 | g.103100268A>C | CA391080891 | EXOC3L4 | c.49A>C (p.Lys17Gln) c.223A>C (p.Lys75Gln) c.160A>C (p.Lys54Gln) n.778A>C n.805A>C | |
| 14 | g.103100268A>G | CA391080893 | EXOC3L4 | c.49A>G (p.Lys17Glu) c.223A>G (p.Lys75Glu) c.160A>G (p.Lys54Glu) n.778A>G n.805A>G | |
| 14 | g.103100268A>T | CA391080892 | EXOC3L4 | c.49A>T (p.Lys17Ter) c.223A>T (p.Lys75Ter) c.160A>T (p.Lys54Ter) n.778A>T n.805A>T | |
| 14 | g.103100269A>C | CA391080894 | EXOC3L4 | c.50A>C (p.Lys17Thr) c.224A>C (p.Lys75Thr) c.161A>C (p.Lys54Thr) n.779A>C n.806A>C | |
| 14 | g.103100269A>G | CA391080895 | EXOC3L4 | c.50A>G (p.Lys17Arg) c.224A>G (p.Lys75Arg) c.161A>G (p.Lys54Arg) n.779A>G n.806A>G | gnomAD v4 |
| 14 | g.103100269A>T | CA391080896 | EXOC3L4 | c.50A>T (p.Lys17Met) c.224A>T (p.Lys75Met) c.161A>T (p.Lys54Met) n.779A>T n.806A>T | |
| 14 | g.103100270G>A | CA7361794 | EXOC3L4 | c.51G>A (p.Lys17=) c.225G>A (p.Lys75=) c.162G>A (p.Lys54=) n.780G>A n.807G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100270G>C | CA391080897 | EXOC3L4 | c.51G>C (p.Lys17Asn) c.225G>C (p.Lys75Asn) c.162G>C (p.Lys54Asn) n.780G>C n.807G>C | |
| 14 | g.103100270G= | CA2160139985 | EXOC3L4 | c.51G= (p.Lys17=) c.225G= (p.Lys75=) c.162G= (p.Lys54=) n.780G= n.807G= | |
| 14 | g.103100270G>T | CA391080898 | EXOC3L4 | c.51G>T (p.Lys17Asn) c.225G>T (p.Lys75Asn) c.162G>T (p.Lys54Asn) n.780G>T n.807G>T | |
| 14 | g.103100271G>A | CA391080901 | EXOC3L4 | c.52G>A (p.Glu18Lys) c.226G>A (p.Glu76Lys) c.163G>A (p.Glu55Lys) n.781G>A n.808G>A | gnomAD v4 |
| 14 | g.103100271G>C | CA391080899 | EXOC3L4 | c.52G>C (p.Glu18Gln) c.226G>C (p.Glu76Gln) c.163G>C (p.Glu55Gln) n.781G>C n.808G>C | |
| 14 | g.103100271G>T | CA391080900 | EXOC3L4 | c.52G>T (p.Glu18Ter) c.226G>T (p.Glu76Ter) c.163G>T (p.Glu55Ter) n.781G>T n.808G>T | COSMIC |
| 14 | g.103100272A>C | CA391080902 | EXOC3L4 | c.53A>C (p.Glu18Ala) c.227A>C (p.Glu76Ala) c.164A>C (p.Glu55Ala) n.782A>C n.809A>C | |
| 14 | g.103100272A>G | CA391080903 | EXOC3L4 | c.53A>G (p.Glu18Gly) c.227A>G (p.Glu76Gly) c.164A>G (p.Glu55Gly) n.782A>G n.809A>G | |
| 14 | g.103100272A>T | CA391080904 | EXOC3L4 | c.53A>T (p.Glu18Val) c.227A>T (p.Glu76Val) c.164A>T (p.Glu55Val) n.782A>T n.809A>T | |
| 14 | g.103100273G>A | CA488193659 | EXOC3L4 | c.54G>A (p.Glu18=) c.228G>A (p.Glu76=) c.165G>A (p.Glu55=) n.783G>A n.810G>A | gnomAD v4 |
| 14 | g.103100273G>C | CA391080905 | EXOC3L4 | c.54G>C (p.Glu18Asp) c.228G>C (p.Glu76Asp) c.165G>C (p.Glu55Asp) n.783G>C n.810G>C | |
| 14 | g.103100273G>T | CA391080906 | EXOC3L4 | c.54G>T (p.Glu18Asp) c.228G>T (p.Glu76Asp) c.165G>T (p.Glu55Asp) n.783G>T n.810G>T | gnomAD v4 |
| 14 | g.103100274G>A | CA391080907 | EXOC3L4 | c.55G>A (p.Ala19Thr) c.229G>A (p.Ala77Thr) c.166G>A (p.Ala56Thr) n.784G>A n.811G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100274G>C | CA391080909 | EXOC3L4 | c.55G>C (p.Ala19Pro) c.229G>C (p.Ala77Pro) c.166G>C (p.Ala56Pro) n.784G>C n.811G>C | |
| 14 | g.103100274G= | CA2160139986 | EXOC3L4 | c.55G= (p.Ala19=) c.229G= (p.Ala77=) c.166G= (p.Ala56=) n.784G= n.811G= | |
| 14 | g.103100274G>T | CA391080908 | EXOC3L4 | c.55G>T (p.Ala19Ser) c.229G>T (p.Ala77Ser) c.166G>T (p.Ala56Ser) n.784G>T n.811G>T | |
| 14 | g.103100275C>A | CA391080910 | EXOC3L4 | c.56C>A (p.Ala19Asp) c.230C>A (p.Ala77Asp) c.167C>A (p.Ala56Asp) n.785C>A n.812C>A | gnomAD v4 |
| 14 | g.103100275C>G | CA391080911 | EXOC3L4 | c.56C>G (p.Ala19Gly) c.230C>G (p.Ala77Gly) c.167C>G (p.Ala56Gly) n.785C>G n.812C>G | |
| 14 | g.103100275C>T | CA391080912 | EXOC3L4 | c.56C>T (p.Ala19Val) c.230C>T (p.Ala77Val) c.167C>T (p.Ala56Val) n.785C>T n.812C>T | |
| 14 | g.103100276T>A | CA488193662 | EXOC3L4 | c.57T>A (p.Ala19=) c.231T>A (p.Ala77=) c.168T>A (p.Ala56=) n.786T>A n.813T>A | |
| 14 | g.103100276T>C | CA488193665 | EXOC3L4 | c.57T>C (p.Ala19=) c.231T>C (p.Ala77=) c.168T>C (p.Ala56=) n.786T>C n.813T>C | |
| 14 | g.103100276T>G | CA488193663 | EXOC3L4 | c.57T>G (p.Ala19=) c.231T>G (p.Ala77=) c.168T>G (p.Ala56=) n.786T>G n.813T>G | dbSNP |
| 14 | g.103100276T= | CA2160139987 | EXOC3L4 | c.57T= (p.Ala19=) c.231T= (p.Ala77=) c.168T= (p.Ala56=) n.786T= n.813T= | |
| 14 | g.103100277G>A | CA391080913 | EXOC3L4 | c.58G>A (p.Glu20Lys) c.232G>A (p.Glu78Lys) c.169G>A (p.Glu57Lys) n.787G>A n.814G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.103100277G>C | CA391080914 | EXOC3L4 | c.58G>C (p.Glu20Gln) c.232G>C (p.Glu78Gln) c.169G>C (p.Glu57Gln) n.787G>C n.814G>C | |
| 14 | g.103100277G= | CA2160139988 | EXOC3L4 | c.58G= (p.Glu20=) c.232G= (p.Glu78=) c.169G= (p.Glu57=) n.787G= n.814G= | |
| 14 | g.103100277G>T | CA391080915 | EXOC3L4 | c.58G>T (p.Glu20Ter) c.232G>T (p.Glu78Ter) c.169G>T (p.Glu57Ter) n.787G>T n.814G>T | gnomAD v4 |
| 14 | g.103100278A= | CA2160139989 | EXOC3L4 | c.59A= (p.Glu20=) c.233A= (p.Glu78=) c.170A= (p.Glu57=) n.788A= n.815A= | |
| 14 | g.103100278A>C | CA391080916 | EXOC3L4 | c.59A>C (p.Glu20Ala) c.233A>C (p.Glu78Ala) c.170A>C (p.Glu57Ala) n.788A>C n.815A>C | |
| 14 | g.103100278A>G | CA391080917 | EXOC3L4 | c.59A>G (p.Glu20Gly) c.233A>G (p.Glu78Gly) c.170A>G (p.Glu57Gly) n.788A>G n.815A>G | dbSNP gnomAD v4 |
| 14 | g.103100278A>T | CA391080918 | EXOC3L4 | c.59A>T (p.Glu20Val) c.233A>T (p.Glu78Val) c.170A>T (p.Glu57Val) n.788A>T n.815A>T | gnomAD v4 |
| 14 | g.103100279G>A | CA488193668 | EXOC3L4 | c.60G>A (p.Glu20=) c.234G>A (p.Glu78=) c.171G>A (p.Glu57=) n.789G>A n.816G>A | gnomAD v4 |
| 14 | g.103100279G>C | CA391080919 | EXOC3L4 | c.60G>C (p.Glu20Asp) c.234G>C (p.Glu78Asp) c.171G>C (p.Glu57Asp) n.789G>C n.816G>C | |
| 14 | g.103100279G>T | CA391080920 | EXOC3L4 | c.60G>T (p.Glu20Asp) c.234G>T (p.Glu78Asp) c.171G>T (p.Glu57Asp) n.789G>T n.816G>T | gnomAD v4 |
| 14 | g.103100280G>A | CA391080921 | EXOC3L4 | c.61G>A (p.Glu21Lys) c.235G>A (p.Glu79Lys) c.172G>A (p.Glu58Lys) n.790G>A n.817G>A | gnomAD v4 |
| 14 | g.103100280G>C | CA391080923 | EXOC3L4 | c.61G>C (p.Glu21Gln) c.235G>C (p.Glu79Gln) c.172G>C (p.Glu58Gln) n.790G>C n.817G>C | |
| 14 | g.103100280G= | CA2160139990 | EXOC3L4 | c.61G= (p.Glu21=) c.235G= (p.Glu79=) c.172G= (p.Glu58=) n.790G= n.817G= | |
| 14 | g.103100280G>T | CA391080922 | EXOC3L4 | c.61G>T (p.Glu21Ter) c.235G>T (p.Glu79Ter) c.172G>T (p.Glu58Ter) n.790G>T n.817G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100281A= | CA2160139991 | EXOC3L4 | c.62A= (p.Glu21=) c.236A= (p.Glu79=) c.173A= (p.Glu58=) n.791A= n.818A= | |
| 14 | g.103100281A>C | CA391080924 | EXOC3L4 | c.62A>C (p.Glu21Ala) c.236A>C (p.Glu79Ala) c.173A>C (p.Glu58Ala) n.791A>C n.818A>C | dbSNP |
| 14 | g.103100281A>G | CA391080925 | EXOC3L4 | c.62A>G (p.Glu21Gly) c.236A>G (p.Glu79Gly) c.173A>G (p.Glu58Gly) n.791A>G n.818A>G | |
| 14 | g.103100281A>T | CA391080926 | EXOC3L4 | c.62A>T (p.Glu21Val) c.236A>T (p.Glu79Val) c.173A>T (p.Glu58Val) n.791A>T n.818A>T | |
| 14 | g.103100282G>A | CA488193678 | EXOC3L4 | c.63G>A (p.Glu21=) c.237G>A (p.Glu79=) c.174G>A (p.Glu58=) n.792G>A n.819G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.103100282G>C | CA391080927 | EXOC3L4 | c.63G>C (p.Glu21Asp) c.237G>C (p.Glu79Asp) c.174G>C (p.Glu58Asp) n.792G>C n.819G>C | |
| 14 | g.103100282G= | CA2160139992 | EXOC3L4 | c.63G= (p.Glu21=) c.237G= (p.Glu79=) c.174G= (p.Glu58=) n.792G= n.819G= | |
| 14 | g.103100282G>T | CA391080928 | EXOC3L4 | c.63G>T (p.Glu21Asp) c.237G>T (p.Glu79Asp) c.174G>T (p.Glu58Asp) n.792G>T n.819G>T | gnomAD v4 |
| 14 | g.103100283C>A | CA267170692 | EXOC3L4 | c.64C>A (p.Pro22Thr) c.238C>A (p.Pro80Thr) c.175C>A (p.Pro59Thr) n.793C>A n.820C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100283C= | CA2160139993 | EXOC3L4 | c.64C= (p.Pro22=) c.238C= (p.Pro80=) c.175C= (p.Pro59=) n.793C= n.820C= | |
| 14 | g.103100283C>G | CA391080929 | EXOC3L4 | c.64C>G (p.Pro22Ala) c.238C>G (p.Pro80Ala) c.175C>G (p.Pro59Ala) n.793C>G n.820C>G | gnomAD v4 |
| 14 | g.103100283C>T | CA391080930 | EXOC3L4 | c.64C>T (p.Pro22Ser) c.238C>T (p.Pro80Ser) c.175C>T (p.Pro59Ser) n.793C>T n.820C>T | gnomAD v4 |
| 14 | g.103100284C>A | CA267170695 | EXOC3L4 | c.65C>A (p.Pro22Gln) c.239C>A (p.Pro80Gln) c.176C>A (p.Pro59Gln) n.794C>A n.821C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100284C= | CA2160139994 | EXOC3L4 | c.65C= (p.Pro22=) c.239C= (p.Pro80=) c.176C= (p.Pro59=) n.794C= n.821C= | |
| 14 | g.103100284C>G | CA391080931 | EXOC3L4 | c.65C>G (p.Pro22Arg) c.239C>G (p.Pro80Arg) c.176C>G (p.Pro59Arg) n.794C>G n.821C>G | |
| 14 | g.103100284C>T | CA391080932 | EXOC3L4 | c.65C>T (p.Pro22Leu) c.239C>T (p.Pro80Leu) c.176C>T (p.Pro59Leu) n.794C>T n.821C>T | |
| 14 | g.103100286_103100287del | CA2626692194 | EXOC3L4 | c.67_68del (p.Gln23AspfsTer?) c.241_242del (p.Gln81AspfsTer?) c.178_179del (p.Gln60AspfsTer?) n.796_797del n.823_824del | gnomAD v4 |
| 14 | g.103100285A>C | CA488193693 | EXOC3L4 | c.66A>C (p.Pro22=) c.240A>C (p.Pro80=) c.177A>C (p.Pro59=) n.795A>C n.822A>C | |
| 14 | g.103100285A>G | CA488193692 | EXOC3L4 | c.66A>G (p.Pro22=) c.240A>G (p.Pro80=) c.177A>G (p.Pro59=) n.795A>G n.822A>G | |
| 14 | g.103100285A>T | CA488193691 | EXOC3L4 | c.66A>T (p.Pro22=) c.240A>T (p.Pro80=) c.177A>T (p.Pro59=) n.795A>T n.822A>T | gnomAD v4 |
| 14 | g.103100286C>A | CA391080935 | EXOC3L4 | c.67C>A (p.Gln23Lys) c.241C>A (p.Gln81Lys) c.178C>A (p.Gln60Lys) n.796C>A n.823C>A | gnomAD v4 |
| 14 | g.103100286C>G | CA391080933 | EXOC3L4 | c.67C>G (p.Gln23Glu) c.241C>G (p.Gln81Glu) c.178C>G (p.Gln60Glu) n.796C>G n.823C>G | |
| 14 | g.103100286C>T | CA391080934 | EXOC3L4 | c.67C>T (p.Gln23Ter) c.241C>T (p.Gln81Ter) c.178C>T (p.Gln60Ter) n.796C>T n.823C>T | |
| 14 | g.103100287A>C | CA391080936 | EXOC3L4 | c.68A>C (p.Gln23Pro) c.242A>C (p.Gln81Pro) c.179A>C (p.Gln60Pro) n.797A>C n.824A>C | |
| 14 | g.103100287A>G | CA391080937 | EXOC3L4 | c.68A>G (p.Gln23Arg) c.242A>G (p.Gln81Arg) c.179A>G (p.Gln60Arg) n.797A>G n.824A>G | gnomAD v4 |
| 14 | g.103100287A>T | CA391080938 | EXOC3L4 | c.68A>T (p.Gln23Leu) c.242A>T (p.Gln81Leu) c.179A>T (p.Gln60Leu) n.797A>T n.824A>T | |
| 14 | g.103100288G>A | CA488193696 | EXOC3L4 | c.69G>A (p.Gln23=) c.243G>A (p.Gln81=) c.180G>A (p.Gln60=) n.798G>A n.825G>A | gnomAD v4 |
| 14 | g.103100288G>C | CA391080939 | EXOC3L4 | c.69G>C (p.Gln23His) c.243G>C (p.Gln81His) c.180G>C (p.Gln60His) n.798G>C n.825G>C | dbSNP gnomAD v4 |
| 14 | g.103100288G= | CA2160139995 | EXOC3L4 | c.69G= (p.Gln23=) c.243G= (p.Gln81=) c.180G= (p.Gln60=) n.798G= n.825G= | |
| 14 | g.103100288G>T | CA391080940 | EXOC3L4 | c.69G>T (p.Gln23His) c.243G>T (p.Gln81His) c.180G>T (p.Gln60His) n.798G>T n.825G>T | |
| 14 | g.103100289A>C | CA391080941 | EXOC3L4 | c.70A>C (p.Thr24Pro) c.244A>C (p.Thr82Pro) c.181A>C (p.Thr61Pro) n.799A>C n.826A>C | |
| 14 | g.103100289A>G | CA391080942 | EXOC3L4 | c.70A>G (p.Thr24Ala) c.244A>G (p.Thr82Ala) c.181A>G (p.Thr61Ala) n.799A>G n.826A>G | |
| 14 | g.103100289A>T | CA391080943 | EXOC3L4 | c.70A>T (p.Thr24Ser) c.244A>T (p.Thr82Ser) c.181A>T (p.Thr61Ser) n.799A>T n.826A>T | |
| 14 | g.103100290C>A | CA391080944 | EXOC3L4 | c.71C>A (p.Thr24Asn) c.245C>A (p.Thr82Asn) c.182C>A (p.Thr61Asn) n.800C>A n.827C>A | gnomAD v4 |
| 14 | g.103100290C= | CA2160139996 | EXOC3L4 | c.71C= (p.Thr24=) c.245C= (p.Thr82=) c.182C= (p.Thr61=) n.800C= n.827C= | |
| 14 | g.103100290C>G | CA391080945 | EXOC3L4 | c.71C>G (p.Thr24Ser) c.245C>G (p.Thr82Ser) c.182C>G (p.Thr61Ser) n.800C>G n.827C>G | |
| 14 | g.103100290C>T | CA7361795 | EXOC3L4 | c.71C>T (p.Thr24Ile) c.245C>T (p.Thr82Ile) c.182C>T (p.Thr61Ile) n.800C>T n.827C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100291T>A | CA488193697 | EXOC3L4 | c.72T>A (p.Thr24=) c.246T>A (p.Thr82=) c.183T>A (p.Thr61=) n.801T>A n.828T>A | |
| 14 | g.103100291T>C | CA488193700 | EXOC3L4 | c.72T>C (p.Thr24=) c.246T>C (p.Thr82=) c.183T>C (p.Thr61=) n.801T>C n.828T>C | |
| 14 | g.103100291T>G | CA488193702 | EXOC3L4 | c.72T>G (p.Thr24=) c.246T>G (p.Thr82=) c.183T>G (p.Thr61=) n.801T>G n.828T>G | gnomAD v4 |
| 14 | g.103100292C>A | CA391080947 | EXOC3L4 | c.73C>A (p.Pro25Thr) c.247C>A (p.Pro83Thr) c.184C>A (p.Pro62Thr) n.802C>A n.829C>A | dbSNP gnomAD v4 |
| 14 | g.103100292C= | CA2160139997 | EXOC3L4 | c.73C= (p.Pro25=) c.247C= (p.Pro83=) c.184C= (p.Pro62=) n.802C= n.829C= | |
| 14 | g.103100292C>G | CA391080948 | EXOC3L4 | c.73C>G (p.Pro25Ala) c.247C>G (p.Pro83Ala) c.184C>G (p.Pro62Ala) n.802C>G n.829C>G | |
| 14 | g.103100292C>T | CA391080946 | EXOC3L4 | c.73C>T (p.Pro25Ser) c.247C>T (p.Pro83Ser) c.184C>T (p.Pro62Ser) n.802C>T n.829C>T | |
| 14 | g.103100293C>A | CA391080951 | EXOC3L4 | c.74C>A (p.Pro25Gln) c.248C>A (p.Pro83Gln) c.185C>A (p.Pro62Gln) n.803C>A n.830C>A | gnomAD v4 |
| 14 | g.103100293C>G | CA391080949 | EXOC3L4 | c.74C>G (p.Pro25Arg) c.248C>G (p.Pro83Arg) c.185C>G (p.Pro62Arg) n.803C>G n.830C>G | |
| 14 | g.103100293C>T | CA391080950 | EXOC3L4 | c.74C>T (p.Pro25Leu) c.248C>T (p.Pro83Leu) c.185C>T (p.Pro62Leu) n.803C>T n.830C>T | gnomAD v4 |
| 14 | g.103100294A>C | CA488193706 | EXOC3L4 | c.75A>C (p.Pro25=) c.249A>C (p.Pro83=) c.186A>C (p.Pro62=) n.804A>C n.831A>C | |
| 14 | g.103100294A>G | CA488193711 | EXOC3L4 | c.75A>G (p.Pro25=) c.249A>G (p.Pro83=) c.186A>G (p.Pro62=) n.804A>G n.831A>G | gnomAD v4 |
| 14 | g.103100294A>T | CA488193714 | EXOC3L4 | c.75A>T (p.Pro25=) c.249A>T (p.Pro83=) c.186A>T (p.Pro62=) n.804A>T n.831A>T | |
| 14 | g.103100295G>A | CA391080952 | EXOC3L4 | c.76G>A (p.Ala26Thr) c.250G>A (p.Ala84Thr) c.187G>A (p.Ala63Thr) n.805G>A n.832G>A | gnomAD v4 |
| 14 | g.103100295G>C | CA7361796 | EXOC3L4 | c.76G>C (p.Ala26Pro) c.250G>C (p.Ala84Pro) c.187G>C (p.Ala63Pro) n.805G>C n.832G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100295G= | CA2160139998 | EXOC3L4 | c.76G= (p.Ala26=) c.250G= (p.Ala84=) c.187G= (p.Ala63=) n.805G= n.832G= | |
| 14 | g.103100295G>T | CA391080953 | EXOC3L4 | c.76G>T (p.Ala26Ser) c.250G>T (p.Ala84Ser) c.187G>T (p.Ala63Ser) n.805G>T n.832G>T | gnomAD v4 |
| 14 | g.103100296C>A | CA391080954 | EXOC3L4 | c.77C>A (p.Ala26Asp) c.251C>A (p.Ala84Asp) c.188C>A (p.Ala63Asp) n.806C>A n.833C>A | gnomAD v4 |
| 14 | g.103100296C>G | CA391080955 | EXOC3L4 | c.77C>G (p.Ala26Gly) c.251C>G (p.Ala84Gly) c.188C>G (p.Ala63Gly) n.806C>G n.833C>G | |
| 14 | g.103100296C>T | CA391080956 | EXOC3L4 | c.77C>T (p.Ala26Val) c.251C>T (p.Ala84Val) c.188C>T (p.Ala63Val) n.806C>T n.833C>T | gnomAD v4 |
| 14 | g.103100297T>A | CA488193722 | EXOC3L4 | c.78T>A (p.Ala26=) c.252T>A (p.Ala84=) c.189T>A (p.Ala63=) n.807T>A n.834T>A | |
| 14 | g.103100297T>C | CA488193723 | EXOC3L4 | c.78T>C (p.Ala26=) c.252T>C (p.Ala84=) c.189T>C (p.Ala63=) n.807T>C n.834T>C | |
| 14 | g.103100297T>G | CA488193724 | EXOC3L4 | c.78T>G (p.Ala26=) c.252T>G (p.Ala84=) c.189T>G (p.Ala63=) n.807T>G n.834T>G | |
| 14 | g.103100298C>A | CA391080957 | EXOC3L4 | c.79C>A (p.Gln27Lys) c.253C>A (p.Gln85Lys) c.190C>A (p.Gln64Lys) n.808C>A n.835C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100298C= | CA2160139999 | EXOC3L4 | c.79C= (p.Gln27=) c.253C= (p.Gln85=) c.190C= (p.Gln64=) n.808C= n.835C= | |
| 14 | g.103100298C>G | CA391080958 | EXOC3L4 | c.79C>G (p.Gln27Glu) c.253C>G (p.Gln85Glu) c.190C>G (p.Gln64Glu) n.808C>G n.835C>G | |
| 14 | g.103100298C>T | CA391080959 | EXOC3L4 | c.79C>T (p.Gln27Ter) c.253C>T (p.Gln85Ter) c.190C>T (p.Gln64Ter) n.808C>T n.835C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.103100299A>C | CA391080960 | EXOC3L4 | c.80A>C (p.Gln27Pro) c.254A>C (p.Gln85Pro) c.191A>C (p.Gln64Pro) n.809A>C n.836A>C | |
| 14 | g.103100299A>G | CA391080961 | EXOC3L4 | c.80A>G (p.Gln27Arg) c.254A>G (p.Gln85Arg) c.191A>G (p.Gln64Arg) n.809A>G n.836A>G | dbSNP gnomAD v4 |
| 14 | g.103100299A>T | CA391080962 | EXOC3L4 | c.80A>T (p.Gln27Leu) c.254A>T (p.Gln85Leu) c.191A>T (p.Gln64Leu) n.809A>T n.836A>T | |
| 14 | g.103100300G>A | CA488193732 | EXOC3L4 | c.81G>A (p.Gln27=) c.255G>A (p.Gln85=) c.192G>A (p.Gln64=) n.810G>A n.837G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100300G>C | CA391080963 | EXOC3L4 | c.81G>C (p.Gln27His) c.255G>C (p.Gln85His) c.192G>C (p.Gln64His) n.810G>C n.837G>C | dbSNP |
| 14 | g.103100300G= | CA2160140000 | EXOC3L4 | c.81G= (p.Gln27=) c.255G= (p.Gln85=) c.192G= (p.Gln64=) n.810G= n.837G= | |
| 14 | g.103100300G>T | CA391080964 | EXOC3L4 | c.81G>T (p.Gln27His) c.255G>T (p.Gln85His) c.192G>T (p.Gln64His) n.810G>T n.837G>T | gnomAD v4 |
| 14 | g.103100302del | CA488193735 | EXOC3L4 | c.83del (p.Gly28AlafsTer26) c.257del (p.Gly86AlafsTer26) c.194del (p.Gly65AlafsTer26) n.812del n.839del | |
| 14 | g.103100301G>A | CA391080965 | EXOC3L4 | c.82G>A (p.Gly28Ser) c.256G>A (p.Gly86Ser) c.193G>A (p.Gly65Ser) n.811G>A n.838G>A | dbSNP gnomAD v2 |
| 14 | g.103100301G>C | CA391080966 | EXOC3L4 | c.82G>C (p.Gly28Arg) c.256G>C (p.Gly86Arg) c.193G>C (p.Gly65Arg) n.811G>C n.838G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100301G= | CA2160140001 | EXOC3L4 | c.82G= (p.Gly28=) c.256G= (p.Gly86=) c.193G= (p.Gly65=) n.811G= n.838G= | |
| 14 | g.103100301G>T | CA391080967 | EXOC3L4 | c.82G>T (p.Gly28Cys) c.256G>T (p.Gly86Cys) c.193G>T (p.Gly65Cys) n.811G>T n.838G>T | gnomAD v4 |
| 14 | g.103100302G>A | CA391080968 | EXOC3L4 | c.83G>A (p.Gly28Asp) c.257G>A (p.Gly86Asp) c.194G>A (p.Gly65Asp) n.812G>A n.839G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100302G>C | CA391080969 | EXOC3L4 | c.83G>C (p.Gly28Ala) c.257G>C (p.Gly86Ala) c.194G>C (p.Gly65Ala) n.812G>C n.839G>C | |
| 14 | g.103100302G= | CA2160140002 | EXOC3L4 | c.83G= (p.Gly28=) c.257G= (p.Gly86=) c.194G= (p.Gly65=) n.812G= n.839G= | |
| 14 | g.103100302G>T | CA391080970 | EXOC3L4 | c.83G>T (p.Gly28Val) c.257G>T (p.Gly86Val) c.194G>T (p.Gly65Val) n.812G>T n.839G>T | dbSNP gnomAD v4 |
| 14 | g.103100303C>A | CA7361797 | EXOC3L4 | c.84C>A (p.Gly28=) c.258C>A (p.Gly86=) c.195C>A (p.Gly65=) n.813C>A n.840C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100303C= | CA2160140003 | EXOC3L4 | c.84C= (p.Gly28=) c.258C= (p.Gly86=) c.195C= (p.Gly65=) n.813C= n.840C= | |
| 14 | g.103100303C>G | CA488193739 | EXOC3L4 | c.84C>G (p.Gly28=) c.258C>G (p.Gly86=) c.195C>G (p.Gly65=) n.813C>G n.840C>G | |
| 14 | g.103100303C>T | CA488193740 | EXOC3L4 | c.84C>T (p.Gly28=) c.258C>T (p.Gly86=) c.195C>T (p.Gly65=) n.813C>T n.840C>T | |
| 14 | g.103100304T>A | CA391080971 | EXOC3L4 | c.85T>A (p.Ser29Thr) c.259T>A (p.Ser87Thr) c.196T>A (p.Ser66Thr) n.814T>A n.841T>A | |
| 14 | g.103100304T>C | CA391080972 | EXOC3L4 | c.85T>C (p.Ser29Pro) c.259T>C (p.Ser87Pro) c.196T>C (p.Ser66Pro) n.814T>C n.841T>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100304T>G | CA391080973 | EXOC3L4 | c.85T>G (p.Ser29Ala) c.259T>G (p.Ser87Ala) c.196T>G (p.Ser66Ala) n.814T>G n.841T>G | |
| 14 | g.103100304T= | CA2160140004 | EXOC3L4 | c.85T= (p.Ser29=) c.259T= (p.Ser87=) c.196T= (p.Ser66=) n.814T= n.841T= | |
| 14 | g.103100305C>A | CA391080974 | EXOC3L4 | c.86C>A (p.Ser29Tyr) c.260C>A (p.Ser87Tyr) c.197C>A (p.Ser66Tyr) n.815C>A n.842C>A | gnomAD v4 |
| 14 | g.103100305C>G | CA391080975 | EXOC3L4 | c.86C>G (p.Ser29Cys) c.260C>G (p.Ser87Cys) c.197C>G (p.Ser66Cys) n.815C>G n.842C>G | gnomAD v4 |
| 14 | g.103100305C>T | CA391080976 | EXOC3L4 | c.86C>T (p.Ser29Phe) c.260C>T (p.Ser87Phe) c.197C>T (p.Ser66Phe) n.815C>T n.842C>T | gnomAD v4 |
| 14 | g.103100307del | CA2626692195 | EXOC3L4 | c.88del (p.Arg30GlyfsTer24) c.262del (p.Arg88GlyfsTer24) c.199del (p.Arg67GlyfsTer24) n.817del n.844del | gnomAD v4 |
| 14 | g.103100306C>A | CA488193745 | EXOC3L4 | c.87C>A (p.Ser29=) c.261C>A (p.Ser87=) c.198C>A (p.Ser66=) n.816C>A n.843C>A | |
| 14 | g.103100306C>G | CA488193747 | EXOC3L4 | c.87C>G (p.Ser29=) c.261C>G (p.Ser87=) c.198C>G (p.Ser66=) n.816C>G n.843C>G | |
| 14 | g.103100306C>T | CA488193746 | EXOC3L4 | c.87C>T (p.Ser29=) c.261C>T (p.Ser87=) c.198C>T (p.Ser66=) n.816C>T n.843C>T | gnomAD v4 |
| 14 | g.103100307C>A | CA488193749 | EXOC3L4 | c.88C>A (p.Arg30=) c.262C>A (p.Arg88=) c.199C>A (p.Arg67=) n.817C>A n.844C>A | |
| 14 | g.103100307C= | CA2160140005 | EXOC3L4 | c.88C= (p.Arg30=) c.262C= (p.Arg88=) c.199C= (p.Arg67=) n.817C= n.844C= | |
| 14 | g.103100307C>G | CA7361799 | EXOC3L4 | c.88C>G (p.Arg30Gly) c.262C>G (p.Arg88Gly) c.199C>G (p.Arg67Gly) n.817C>G n.844C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100307C>T | CA7361798 | EXOC3L4 | c.88C>T (p.Arg30Trp) c.262C>T (p.Arg88Trp) c.199C>T (p.Arg67Trp) n.817C>T n.844C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100308G>A | CA7361800 | EXOC3L4 | c.89G>A (p.Arg30Gln) c.263G>A (p.Arg88Gln) c.200G>A (p.Arg67Gln) n.818G>A n.845G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100308G>C | CA391080977 | EXOC3L4 | c.89G>C (p.Arg30Pro) c.263G>C (p.Arg88Pro) c.200G>C (p.Arg67Pro) n.818G>C n.845G>C | |
| 14 | g.103100308G= | CA2160140006 | EXOC3L4 | c.89G= (p.Arg30=) c.263G= (p.Arg88=) c.200G= (p.Arg67=) n.818G= n.845G= | |
| 14 | g.103100308G>T | CA391080978 | EXOC3L4 | c.89G>T (p.Arg30Leu) c.263G>T (p.Arg88Leu) c.200G>T (p.Arg67Leu) n.818G>T n.845G>T | gnomAD v4 |
| 14 | g.103100309G>A | CA488193755 | EXOC3L4 | c.90G>A (p.Arg30=) c.264G>A (p.Arg88=) c.201G>A (p.Arg67=) n.819G>A n.846G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100309G>C | CA488193756 | EXOC3L4 | c.90G>C (p.Arg30=) c.264G>C (p.Arg88=) c.201G>C (p.Arg67=) n.819G>C n.846G>C | |
| 14 | g.103100309G= | CA2160140007 | EXOC3L4 | c.90G= (p.Arg30=) c.264G= (p.Arg88=) c.201G= (p.Arg67=) n.819G= n.846G= | |
| 14 | g.103100309G>T | CA488193757 | EXOC3L4 | c.90G>T (p.Arg30=) c.264G>T (p.Arg88=) c.201G>T (p.Arg67=) n.819G>T n.846G>T | gnomAD v4 |
| 14 | g.103100310C>A | CA7361802 | EXOC3L4 | c.91C>A (p.Arg31=) c.265C>A (p.Arg89=) c.202C>A (p.Arg68=) n.820C>A n.847C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100310C= | CA2160140008 | EXOC3L4 | c.91C= (p.Arg31=) c.265C= (p.Arg89=) c.202C= (p.Arg68=) n.820C= n.847C= | |
| 14 | g.103100310C>G | CA391080979 | EXOC3L4 | c.91C>G (p.Arg31Gly) c.265C>G (p.Arg89Gly) c.202C>G (p.Arg68Gly) n.820C>G n.847C>G | dbSNP |
| 14 | g.103100310C>T | CA7361801 | EXOC3L4 | c.91C>T (p.Arg31Ter) c.265C>T (p.Arg89Ter) c.202C>T (p.Arg68Ter) n.820C>T n.847C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.103100311G>A | CA7361803 | EXOC3L4 | c.92G>A (p.Arg31Gln) c.266G>A (p.Arg89Gln) c.203G>A (p.Arg68Gln) n.821G>A n.848G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100311G>C | CA391080980 | EXOC3L4 | c.92G>C (p.Arg31Pro) c.266G>C (p.Arg89Pro) c.203G>C (p.Arg68Pro) n.821G>C n.848G>C | gnomAD v4 |
| 14 | g.103100311G= | CA2160140009 | EXOC3L4 | c.92G= (p.Arg31=) c.266G= (p.Arg89=) c.203G= (p.Arg68=) n.821G= n.848G= | |
| 14 | g.103100311G>T | CA391080981 | EXOC3L4 | c.92G>T (p.Arg31Leu) c.266G>T (p.Arg89Leu) c.203G>T (p.Arg68Leu) n.821G>T n.848G>T | gnomAD v4 |
| 14 | g.103100312A>C | CA488193761 | EXOC3L4 | c.93A>C (p.Arg31=) c.267A>C (p.Arg89=) c.204A>C (p.Arg68=) n.822A>C n.849A>C | |
| 14 | g.103100312A>G | CA488193762 | EXOC3L4 | c.93A>G (p.Arg31=) c.267A>G (p.Arg89=) c.204A>G (p.Arg68=) n.822A>G n.849A>G | |
| 14 | g.103100312A>T | CA488193763 | EXOC3L4 | c.93A>T (p.Arg31=) c.267A>T (p.Arg89=) c.204A>T (p.Arg68=) n.822A>T n.849A>T | |
| 14 | g.103100313A>C | CA391080982 | EXOC3L4 | c.94A>C (p.Thr32Pro) c.268A>C (p.Thr90Pro) c.205A>C (p.Thr69Pro) n.823A>C n.850A>C | |
| 14 | g.103100313A>G | CA391080983 | EXOC3L4 | c.94A>G (p.Thr32Ala) c.268A>G (p.Thr90Ala) c.205A>G (p.Thr69Ala) n.823A>G n.850A>G | |
| 14 | g.103100313A>T | CA391080984 | EXOC3L4 | c.94A>T (p.Thr32Ser) c.268A>T (p.Thr90Ser) c.205A>T (p.Thr69Ser) n.823A>T n.850A>T | |
| 14 | g.103100314C>A | CA391080986 | EXOC3L4 | c.95C>A (p.Thr32Lys) c.269C>A (p.Thr90Lys) c.206C>A (p.Thr69Lys) n.824C>A n.851C>A | gnomAD v4 |
| 14 | g.103100314C>G | CA391080987 | EXOC3L4 | c.95C>G (p.Thr32Arg) c.269C>G (p.Thr90Arg) c.206C>G (p.Thr69Arg) n.824C>G n.851C>G | |
| 14 | g.103100314C>T | CA391080985 | EXOC3L4 | c.95C>T (p.Thr32Ile) c.269C>T (p.Thr90Ile) c.206C>T (p.Thr69Ile) n.824C>T n.851C>T | gnomAD v4 |
| 14 | g.103100315A>C | CA488193567 | EXOC3L4 | c.96A>C (p.Thr32=) c.270A>C (p.Thr90=) c.207A>C (p.Thr69=) n.825A>C n.852A>C | |
| 14 | g.103100315A>G | CA488193568 | EXOC3L4 | c.96A>G (p.Thr32=) c.270A>G (p.Thr90=) c.207A>G (p.Thr69=) n.825A>G n.852A>G | |
| 14 | g.103100315A>T | CA488193569 | EXOC3L4 | c.96A>T (p.Thr32=) c.270A>T (p.Thr90=) c.207A>T (p.Thr69=) n.825A>T n.852A>T | |
| 14 | g.103100316A>C | CA391080988 | EXOC3L4 | c.97A>C (p.Ser33Arg) c.271A>C (p.Ser91Arg) c.208A>C (p.Ser70Arg) n.826A>C n.853A>C | |
| 14 | g.103100316A>G | CA391080989 | EXOC3L4 | c.97A>G (p.Ser33Gly) c.271A>G (p.Ser91Gly) c.208A>G (p.Ser70Gly) n.826A>G n.853A>G | |
| 14 | g.103100316A>T | CA391080990 | EXOC3L4 | c.97A>T (p.Ser33Cys) c.271A>T (p.Ser91Cys) c.208A>T (p.Ser70Cys) n.826A>T n.853A>T | |
| 14 | g.103100317G>A | CA391080991 | EXOC3L4 | c.98G>A (p.Ser33Asn) c.272G>A (p.Ser91Asn) c.209G>A (p.Ser70Asn) n.827G>A n.854G>A | |
| 14 | g.103100317G>C | CA391080992 | EXOC3L4 | c.98G>C (p.Ser33Thr) c.272G>C (p.Ser91Thr) c.209G>C (p.Ser70Thr) n.827G>C n.854G>C | |
| 14 | g.103100317G>T | CA391080993 | EXOC3L4 | c.98G>T (p.Ser33Ile) c.272G>T (p.Ser91Ile) c.209G>T (p.Ser70Ile) n.827G>T n.854G>T | |
| 14 | g.103100318C>A | CA391080994 | EXOC3L4 | c.99C>A (p.Ser33Arg) c.273C>A (p.Ser91Arg) c.210C>A (p.Ser70Arg) n.828C>A n.855C>A | |
| 14 | g.103100318C>G | CA391080995 | EXOC3L4 | c.99C>G (p.Ser33Arg) c.273C>G (p.Ser91Arg) c.210C>G (p.Ser70Arg) n.828C>G n.855C>G | |
| 14 | g.103100318C>T | CA488193575 | EXOC3L4 | c.99C>T (p.Ser33=) c.273C>T (p.Ser91=) c.210C>T (p.Ser70=) n.828C>T n.855C>T | gnomAD v4 |
| 14 | g.103100319A= | CA2160140010 | EXOC3L4 | c.100A= (p.Ser34=) c.274A= (p.Ser92=) c.211A= (p.Ser71=) n.829A= n.856A= | |
| 14 | g.103100319A>C | CA391080996 | EXOC3L4 | c.100A>C (p.Ser34Arg) c.274A>C (p.Ser92Arg) c.211A>C (p.Ser71Arg) n.829A>C n.856A>C | dbSNP |
| 14 | g.103100319A>G | CA391080997 | EXOC3L4 | c.100A>G (p.Ser34Gly) c.274A>G (p.Ser92Gly) c.211A>G (p.Ser71Gly) n.829A>G n.856A>G | dbSNP |
| 14 | g.103100319A>T | CA391080998 | EXOC3L4 | c.100A>T (p.Ser34Cys) c.274A>T (p.Ser92Cys) c.211A>T (p.Ser71Cys) n.829A>T n.856A>T | |
| 14 | g.103100320G>A | CA391080999 | EXOC3L4 | c.101G>A (p.Ser34Asn) c.275G>A (p.Ser92Asn) c.212G>A (p.Ser71Asn) n.830G>A n.857G>A | gnomAD v4 |
| 14 | g.103100320G>C | CA391081000 | EXOC3L4 | c.101G>C (p.Ser34Thr) c.275G>C (p.Ser92Thr) c.212G>C (p.Ser71Thr) n.830G>C n.857G>C | |
| 14 | g.103100320G>T | CA391081001 | EXOC3L4 | c.101G>T (p.Ser34Ile) c.275G>T (p.Ser92Ile) c.212G>T (p.Ser71Ile) n.830G>T n.857G>T | gnomAD v4 |
| 14 | g.103100321C>A | CA391081002 | EXOC3L4 | c.102C>A (p.Ser34Arg) c.276C>A (p.Ser92Arg) c.213C>A (p.Ser71Arg) n.831C>A n.858C>A | gnomAD v4 |
| 14 | g.103100321C= | CA2160140011 | EXOC3L4 | c.102C= (p.Ser34=) c.276C= (p.Ser92=) c.213C= (p.Ser71=) n.831C= n.858C= | |
| 14 | g.103100321C>G | CA391081003 | EXOC3L4 | c.102C>G (p.Ser34Arg) c.276C>G (p.Ser92Arg) c.213C>G (p.Ser71Arg) n.831C>G n.858C>G | |
| 14 | g.103100321C>T | CA488193580 | EXOC3L4 | c.102C>T (p.Ser34=) c.276C>T (p.Ser92=) c.213C>T (p.Ser71=) n.831C>T n.858C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100322A>C | CA488193581 | EXOC3L4 | c.103A>C (p.Arg35=) c.277A>C (p.Arg93=) c.214A>C (p.Arg72=) n.832A>C n.859A>C | |
| 14 | g.103100322A>G | CA391081004 | EXOC3L4 | c.103A>G (p.Arg35Gly) c.277A>G (p.Arg93Gly) c.214A>G (p.Arg72Gly) n.832A>G n.859A>G | |
| 14 | g.103100322A>T | CA391081005 | EXOC3L4 | c.103A>T (p.Arg35Trp) c.277A>T (p.Arg93Trp) c.214A>T (p.Arg72Trp) n.832A>T n.859A>T | gnomAD v4 |
| 14 | g.103100323G>A | CA391081006 | EXOC3L4 | c.104G>A (p.Arg35Lys) c.278G>A (p.Arg93Lys) c.215G>A (p.Arg72Lys) n.833G>A n.860G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100323G>C | CA391081008 | EXOC3L4 | c.104G>C (p.Arg35Thr) c.278G>C (p.Arg93Thr) c.215G>C (p.Arg72Thr) n.833G>C n.860G>C | |
| 14 | g.103100323G= | CA2160140012 | EXOC3L4 | c.104G= (p.Arg35=) c.278G= (p.Arg93=) c.215G= (p.Arg72=) n.833G= n.860G= | |
| 14 | g.103100323G>T | CA391081007 | EXOC3L4 | c.104G>T (p.Arg35Met) c.278G>T (p.Arg93Met) c.215G>T (p.Arg72Met) n.833G>T n.860G>T | |
| 14 | g.103100324G>A | CA488193586 | EXOC3L4 | c.105G>A (p.Arg35=) c.279G>A (p.Arg93=) c.216G>A (p.Arg72=) n.834G>A n.861G>A | |
| 14 | g.103100324G>C | CA391081009 | EXOC3L4 | c.105G>C (p.Arg35Ser) c.279G>C (p.Arg93Ser) c.216G>C (p.Arg72Ser) n.834G>C n.861G>C | |
| 14 | g.103100324G>T | CA391081010 | EXOC3L4 | c.105G>T (p.Arg35Ser) c.279G>T (p.Arg93Ser) c.216G>T (p.Arg72Ser) n.834G>T n.861G>T | gnomAD v4 |