Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42900992T>A | CA399650632 | G6PC1 | c.116T>A (p.Leu39His) n.181T>A | |
17 | g.42900992T>C | CA399650635 | G6PC1 | c.116T>C (p.Leu39Pro) n.181T>C | |
17 | g.42900992T>G | CA399650640 | G6PC1 | c.116T>G (p.Leu39Arg) n.181T>G | gnomAD v4 |
17 | g.42900993C>A | CA500229351 | G6PC1 | c.117C>A (p.Leu39=) n.182C>A | |
17 | g.42900993C>G | CA500229349 | G6PC1 | c.117C>G (p.Leu39=) n.182C>G | |
17 | g.42900993C>T | CA500229350 | G6PC1 | c.117C>T (p.Leu39=) n.182C>T | gnomAD v4 |
17 | g.42900994A= | CA2260692882 | G6PC1 | c.118A= (p.Arg40=) n.183A= | |
17 | g.42900994A>C | CA500229352 | G6PC1 | c.118A>C (p.Arg40=) n.183A>C | |
17 | g.42900994A>G | CA290783707 | G6PC1 | c.118A>G (p.Arg40Gly) n.183A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42900994A>T | CA399650645 | G6PC1 | c.118A>T (p.Arg40Trp) n.183A>T | |
17 | g.42900995G>A | CA399650648 | G6PC1 | c.119G>A (p.Arg40Lys) n.184G>A | dbSNP gnomAD v4 |
17 | g.42900995G>C | CA399650650 | G6PC1 | c.119G>C (p.Arg40Thr) n.184G>C | |
17 | g.42900995G= | CA2260692883 | G6PC1 | c.119G= (p.Arg40=) n.184G= | |
17 | g.42900995G>T | CA399650652 | G6PC1 | c.119G>T (p.Arg40Met) n.184G>T | |
17 | g.42900996G>A | CA500229353 | G6PC1 | c.120G>A (p.Arg40=) n.185G>A | |
17 | g.42900996G>C | CA399650657 | G6PC1 | c.120G>C (p.Arg40Ser) n.185G>C | |
17 | g.42900996G>T | CA399650661 | G6PC1 | c.120G>T (p.Arg40Ser) n.185G>T | |
17 | g.42900997A= | CA2260692884 | G6PC1 | c.121A= (p.Asn41=) n.186A= | |
17 | g.42900997A>C | CA399650664 | G6PC1 | c.121A>C (p.Asn41His) n.186A>C | |
17 | g.42900997A>G | CA399650662 | G6PC1 | c.121A>G (p.Asn41Asp) n.186A>G | ClinVar |
17 | g.42900997A>T | CA290783710 | G6PC1 | c.121A>T (p.Asn41Tyr) n.186A>T | dbSNP |
17 | g.42900998A>C | CA399650666 | G6PC1 | c.122A>C (p.Asn41Thr) n.187A>C | |
17 | g.42900998A>G | CA399650668 | G6PC1 | c.122A>G (p.Asn41Ser) n.187A>G | |
17 | g.42900998A>T | CA399650670 | G6PC1 | c.122A>T (p.Asn41Ile) n.187A>T | |
17 | g.42900999T>A | CA399650674 | G6PC1 | c.123T>A (p.Asn41Lys) n.188T>A | |
17 | g.42900999T>C | CA500229354 | G6PC1 | c.123T>C (p.Asn41=) n.188T>C | |
17 | g.42900999T>G | CA399650675 | G6PC1 | c.123T>G (p.Asn41Lys) n.188T>G | |
17 | g.42901000G>A | CA399650686 | G6PC1 | c.124G>A (p.Ala42Thr) n.189G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42901000G>C | CA399650684 | G6PC1 | c.124G>C (p.Ala42Pro) n.189G>C | |
17 | g.42901000G= | CA2260692885 | G6PC1 | c.124G= (p.Ala42=) n.189G= | |
17 | g.42901000G>T | CA399650680 | G6PC1 | c.124G>T (p.Ala42Ser) n.189G>T | |
17 | g.42901001C>A | CA399650687 | G6PC1 | c.125C>A (p.Ala42Asp) n.190C>A | |
17 | g.42901001C>G | CA399650689 | G6PC1 | c.125C>G (p.Ala42Gly) n.190C>G | |
17 | g.42901001C>T | CA399650692 | G6PC1 | c.125C>T (p.Ala42Val) n.190C>T | |
17 | g.42901001_42901009delinsACTTCTACA | CA2580093767 | G6PC1 | c.125_133delinsACTTCTACA (p.Ala42_Val45delinsAspPheTyrIle) n.190_198delinsACTTCTACA | ClinVar |
17 | g.42901002C>A | CA500229355 | G6PC1 | c.126C>A (p.Ala42=) n.191C>A | ClinVar |
17 | g.42901002C>G | CA500229356 | G6PC1 | c.126C>G (p.Ala42=) n.191C>G | |
17 | g.42901002C>T | CA500229357 | G6PC1 | c.126C>T (p.Ala42=) n.191C>T | ClinVar |
17 | g.42901003T>A | CA399650696 | G6PC1 | c.127T>A (p.Phe43Ile) n.192T>A | |
17 | g.42901003T>C | CA8587494 | G6PC1 | c.127T>C (p.Phe43Leu) n.192T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42901003T>G | CA399650712 | G6PC1 | c.127T>G (p.Phe43Val) n.192T>G | |
17 | g.42901003T= | CA2260692886 | G6PC1 | c.127T= (p.Phe43=) n.192T= | |
17 | g.42901004T>A | CA399650716 | G6PC1 | c.128T>A (p.Phe43Tyr) n.193T>A | |
17 | g.42901004T>C | CA399650721 | G6PC1 | c.128T>C (p.Phe43Ser) n.193T>C | |
17 | g.42901004T>G | CA399650718 | G6PC1 | c.128T>G (p.Phe43Cys) n.193T>G | |
17 | g.42901005C>A | CA399650726 | G6PC1 | c.129C>A (p.Phe43Leu) n.194C>A | |
17 | g.42901005C>G | CA399650729 | G6PC1 | c.129C>G (p.Phe43Leu) n.194C>G | |
17 | g.42901005C>T | CA500229358 | G6PC1 | c.129C>T (p.Phe43=) n.194C>T | |
17 | g.42901006T>A | CA399650735 | G6PC1 | c.130T>A (p.Tyr44Asn) n.195T>A | |
17 | g.42901006T>C | CA399650743 | G6PC1 | c.130T>C (p.Tyr44His) n.195T>C | |
17 | g.42901006T>G | CA399650745 | G6PC1 | c.130T>G (p.Tyr44Asp) n.195T>G | |
17 | g.42901007A>C | CA399650748 | G6PC1 | c.131A>C (p.Tyr44Ser) n.196A>C | |
17 | g.42901007A>G | CA399650751 | G6PC1 | c.131A>G (p.Tyr44Cys) n.196A>G | |
17 | g.42901007A>T | CA399650754 | G6PC1 | c.131A>T (p.Tyr44Phe) n.196A>T | |
17 | g.42901008C>A | CA399650759 | G6PC1 | c.132C>A (p.Tyr44Ter) n.197C>A | |
17 | g.42901008C= | CA2260692887 | G6PC1 | c.132C= (p.Tyr44=) n.197C= | |
17 | g.42901008C>G | CA399650762 | G6PC1 | c.132C>G (p.Tyr44Ter) n.197C>G | ClinVar |
17 | g.42901008C>T | CA8587495 | G6PC1 | c.132C>T (p.Tyr44=) n.197C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901009G>A | CA290783715 | G6PC1 | c.133G>A (p.Val45Ile) n.198G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42901009G>C | CA399650785 | G6PC1 | c.133G>C (p.Val45Leu) n.198G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901009G= | CA2260692888 | G6PC1 | c.133G= (p.Val45=) n.198G= | |
17 | g.42901009G>T | CA399650782 | G6PC1 | c.133G>T (p.Val45Phe) n.198G>T | COSMIC |
17 | g.42901010T>A | CA399650787 | G6PC1 | c.134T>A (p.Val45Asp) n.199T>A | |
17 | g.42901010T>C | CA399650792 | G6PC1 | c.134T>C (p.Val45Ala) n.199T>C | |
17 | g.42901010T>G | CA399650790 | G6PC1 | c.134T>G (p.Val45Gly) n.199T>G | |
17 | g.42901010_42901011delinsTC | CA2260692889 | G6PC1 | c.134_135delinsTC (p.Val45=) n.199_200delinsTC | |
17 | g.42901011C>A | CA290783724 | G6PC1 | c.135C>A (p.Val45=) n.200C>A | ClinVar dbSNP gnomAD v4 |
17 | g.42901011C= | CA2260692890 | G6PC1 | c.135C= (p.Val45=) n.200C= | |
17 | g.42901011C>G | CA500229359 | G6PC1 | c.135C>G (p.Val45=) n.200C>G | |
17 | g.42901011C>T | CA500229360 | G6PC1 | c.135C>T (p.Val45=) n.200C>T | dbSNP |
17 | g.42901012del | CA16041841 | G6PC1 | c.136del (p.Leu46SerfsTer19) n.201del | ClinVar dbSNP gnomAD v4 |
17 | g.42901012C>A | CA399650798 | G6PC1 | c.136C>A (p.Leu46Ile) n.201C>A | |
17 | g.42901012C= | CA2260692891 | G6PC1 | c.136C= (p.Leu46=) n.201C= | |
17 | g.42901012C>G | CA399650801 | G6PC1 | c.136C>G (p.Leu46Val) n.201C>G | |
17 | g.42901012C>T | CA8587496 | G6PC1 | c.136C>T (p.Leu46Phe) n.201C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901013T>A | CA399650814 | G6PC1 | c.137T>A (p.Leu46His) n.202T>A | |
17 | g.42901013T>C | CA399650811 | G6PC1 | c.137T>C (p.Leu46Pro) n.202T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901013T>G | CA399650812 | G6PC1 | c.137T>G (p.Leu46Arg) n.202T>G | |
17 | g.42901013T= | CA2260692892 | G6PC1 | c.137T= (p.Leu46=) n.202T= | |
17 | g.42901014C>A | CA500229363 | G6PC1 | c.138C>A (p.Leu46=) n.203C>A | |
17 | g.42901014C= | CA2260692893 | G6PC1 | c.138C= (p.Leu46=) n.203C= | |
17 | g.42901014C>G | CA500229361 | G6PC1 | c.138C>G (p.Leu46=) n.203C>G | |
17 | g.42901014C>T | CA500229362 | G6PC1 | c.138C>T (p.Leu46=) n.203C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901015T>A | CA399650818 | G6PC1 | c.139T>A (p.Phe47Ile) n.204T>A | |
17 | g.42901015T>C | CA399650820 | G6PC1 | c.139T>C (p.Phe47Leu) n.204T>C | |
17 | g.42901015T>G | CA399650823 | G6PC1 | c.139T>G (p.Phe47Val) n.204T>G | |
17 | g.42901016T>A | CA399650825 | G6PC1 | c.140T>A (p.Phe47Tyr) n.205T>A | |
17 | g.42901016T>C | CA399650827 | G6PC1 | c.140T>C (p.Phe47Ser) n.205T>C | gnomAD v4 |
17 | g.42901016T>G | CA399650828 | G6PC1 | c.140T>G (p.Phe47Cys) n.205T>G | gnomAD v4 |
17 | g.42901017C>A | CA399650835 | G6PC1 | c.141C>A (p.Phe47Leu) n.206C>A | |
17 | g.42901017C= | CA2260692894 | G6PC1 | c.141C= (p.Phe47=) n.206C= | |
17 | g.42901017C>G | CA399650836 | G6PC1 | c.141C>G (p.Phe47Leu) n.206C>G | ClinVar |
17 | g.42901017C>T | CA500229364 | G6PC1 | c.141C>T (p.Phe47=) n.206C>T | ClinVar dbSNP gnomAD v4 |
17 | g.42901020del | CA2638039655 | G6PC1 | c.144del (p.Ile49SerfsTer16) n.209del | gnomAD v4 |
17 | g.42901018C>A | CA399650839 | G6PC1 | c.142C>A (p.Pro48Thr) n.207C>A | |
17 | g.42901018C= | CA2260692895 | G6PC1 | c.142C= (p.Pro48=) n.207C= | |
17 | g.42901018C>G | CA399650840 | G6PC1 | c.142C>G (p.Pro48Ala) n.207C>G | gnomAD v4 |
17 | g.42901018C>T | CA399650842 | G6PC1 | c.142C>T (p.Pro48Ser) n.207C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901019C>A | CA399650846 | G6PC1 | c.143C>A (p.Pro48His) n.208C>A | |
17 | g.42901019C>G | CA399650849 | G6PC1 | c.143C>G (p.Pro48Arg) n.208C>G | |
17 | g.42901019C>T | CA399650848 | G6PC1 | c.143C>T (p.Pro48Leu) n.208C>T | |
17 | g.42901020C>A | CA500229365 | G6PC1 | c.144C>A (p.Pro48=) n.209C>A | COSMIC |
17 | g.42901020C>G | CA500229366 | G6PC1 | c.144C>G (p.Pro48=) n.209C>G | |
17 | g.42901020C>T | CA500229367 | G6PC1 | c.144C>T (p.Pro48=) n.209C>T | ClinVar dbSNP |
17 | g.42901021A= | CA2260692896 | G6PC1 | c.145A= (p.Ile49=) n.210A= | |
17 | g.42901021A>C | CA399650851 | G6PC1 | c.145A>C (p.Ile49Leu) n.210A>C | gnomAD v4 |
17 | g.42901021A>G | CA399650853 | G6PC1 | c.145A>G (p.Ile49Val) n.210A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901021A>T | CA399650854 | G6PC1 | c.145A>T (p.Ile49Phe) n.210A>T | |
17 | g.42901022T>A | CA290783739 | G6PC1 | c.146T>A (p.Ile49Asn) n.211T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901022T>C | CA399650855 | G6PC1 | c.146T>C (p.Ile49Thr) n.211T>C | |
17 | g.42901022T>G | CA399650856 | G6PC1 | c.146T>G (p.Ile49Ser) n.211T>G | |
17 | g.42901022T= | CA2260692897 | G6PC1 | c.146T= (p.Ile49=) n.211T= | |
17 | g.42901023C>A | CA500229368 | G6PC1 | c.147C>A (p.Ile49=) n.212C>A | gnomAD v4 |
17 | g.42901023C= | CA2260692898 | G6PC1 | c.147C= (p.Ile49=) n.212C= | |
17 | g.42901023C>G | CA399650858 | G6PC1 | c.147C>G (p.Ile49Met) n.212C>G | |
17 | g.42901023C>T | CA500229369 | G6PC1 | c.147C>T (p.Ile49=) n.212C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901024T>A | CA399650860 | G6PC1 | c.148T>A (p.Trp50Arg) n.213T>A | |
17 | g.42901024T>C | CA399650862 | G6PC1 | c.148T>C (p.Trp50Arg) n.213T>C | |
17 | g.42901024T>G | CA399650864 | G6PC1 | c.148T>G (p.Trp50Gly) n.213T>G | gnomAD v4 |
17 | g.42901025G>A | CA399650872 | G6PC1 | c.149G>A (p.Trp50Ter) n.214G>A | gnomAD v4 |
17 | g.42901025G>C | CA399650870 | G6PC1 | c.149G>C (p.Trp50Ser) n.214G>C | |
17 | g.42901025G>T | CA399650867 | G6PC1 | c.149G>T (p.Trp50Leu) n.214G>T | |
17 | g.42901025_42901027delinsGGT | CA2260692899 | G6PC1 | c.149_151delinsGGT (p.Trp50=) n.214_216delinsGGT | |
17 | g.42901026G>A | CA399650873 | G6PC1 | c.150G>A (p.Trp50Ter) n.215G>A | |
17 | g.42901026G>C | CA399650874 | G6PC1 | c.150G>C (p.Trp50Cys) n.215G>C | |
17 | g.42901026G>T | CA399650876 | G6PC1 | c.150G>T (p.Trp50Cys) n.215G>T | gnomAD v4 |
17 | g.42901026_42901027del | CA16041842 | G6PC1 | c.150_151del (p.Trp50CysfsTer10) n.215_216del | ClinVar dbSNP gnomAD v4 |
17 | g.42901027T>A | CA399650882 | G6PC1 | c.151T>A (p.Phe51Ile) n.216T>A | |
17 | g.42901027T>C | CA399650887 | G6PC1 | c.151T>C (p.Phe51Leu) n.216T>C | |
17 | g.42901027T>G | CA399650889 | G6PC1 | c.151T>G (p.Phe51Val) n.216T>G | |
17 | g.42901028T>A | CA399650892 | G6PC1 | c.152T>A (p.Phe51Tyr) n.217T>A | |
17 | g.42901028T>C | CA399650896 | G6PC1 | c.152T>C (p.Phe51Ser) n.217T>C | COSMIC |
17 | g.42901028T>G | CA399650899 | G6PC1 | c.152T>G (p.Phe51Cys) n.217T>G | |
17 | g.42901029C>A | CA399650902 | G6PC1 | c.153C>A (p.Phe51Leu) n.218C>A | |
17 | g.42901029C>G | CA399650905 | G6PC1 | c.153C>G (p.Phe51Leu) n.218C>G | |
17 | g.42901029C>T | CA500229370 | G6PC1 | c.153C>T (p.Phe51=) n.218C>T | |
17 | g.42901030C>A | CA399650913 | G6PC1 | c.154C>A (p.His52Asn) n.219C>A | |
17 | g.42901030C>G | CA399650906 | G6PC1 | c.154C>G (p.His52Asp) n.219C>G | |
17 | g.42901030C>T | CA399650909 | G6PC1 | c.154C>T (p.His52Tyr) n.219C>T | |
17 | g.42901031A= | CA2260692900 | G6PC1 | c.155A= (p.His52=) n.220A= | |
17 | g.42901031A>C | CA399650919 | G6PC1 | c.155A>C (p.His52Pro) n.220A>C | |
17 | g.42901031A>G | CA399650923 | G6PC1 | c.155A>G (p.His52Arg) n.220A>G | dbSNP |
17 | g.42901031A>T | CA399650927 | G6PC1 | c.155A>T (p.His52Leu) n.220A>T | ClinVar |
17 | g.42901032T>A | CA290783742 | G6PC1 | c.156T>A (p.His52Gln) n.221T>A | dbSNP |
17 | g.42901032T>C | CA500229371 | G6PC1 | c.156T>C (p.His52=) n.221T>C | ClinVar gnomAD v4 |
17 | g.42901032T>G | CA399650933 | G6PC1 | c.156T>G (p.His52Gln) n.221T>G | |
17 | g.42901032T= | CA2260692901 | G6PC1 | c.156T= (p.His52=) n.221T= | |
17 | g.42901036_42901100dup | CA2499224334 | G6PC1 | c.160_224dup (p.Lys76ArgfsTer11) n.225_289dup | ClinVar dbSNP |
17 | g.42901033C>A | CA399650937 | G6PC1 | c.157C>A (p.Leu53Ile) n.222C>A | |
17 | g.42901033C>G | CA399650939 | G6PC1 | c.157C>G (p.Leu53Val) n.222C>G | |
17 | g.42901033C>T | CA399650949 | G6PC1 | c.157C>T (p.Leu53Phe) n.222C>T | gnomAD v4 |
17 | g.42901034T>A | CA399650952 | G6PC1 | c.158T>A (p.Leu53His) n.223T>A | |
17 | g.42901034T>C | CA399650954 | G6PC1 | c.158T>C (p.Leu53Pro) n.223T>C | gnomAD v4 |
17 | g.42901034T>G | CA399650957 | G6PC1 | c.158T>G (p.Leu53Arg) n.223T>G | |
17 | g.42901035T>A | CA500229374 | G6PC1 | c.159T>A (p.Leu53=) n.224T>A | |
17 | g.42901035T>C | CA500229372 | G6PC1 | c.159T>C (p.Leu53=) n.224T>C | |
17 | g.42901035T>G | CA500229373 | G6PC1 | c.159T>G (p.Leu53=) n.224T>G | |
17 | g.42901036C>A | CA399650961 | G6PC1 | c.160C>A (p.Gln54Lys) n.225C>A | |
17 | g.42901036C>G | CA399650960 | G6PC1 | c.160C>G (p.Gln54Glu) n.225C>G | |
17 | g.42901036C>T | CA399650959 | G6PC1 | c.160C>T (p.Gln54Ter) n.225C>T | |
17 | g.42901037A= | CA2260692902 | G6PC1 | c.161A= (p.Gln54=) n.226A= | |
17 | g.42901037A>C | CA16041843 | G6PC1 | c.161A>C (p.Gln54Pro) n.226A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901037A>G | CA399650967 | G6PC1 | c.161A>G (p.Gln54Arg) n.226A>G | dbSNP gnomAD v4 |
17 | g.42901037A>T | CA399650964 | G6PC1 | c.161A>T (p.Gln54Leu) n.226A>T | |
17 | g.42901038G>A | CA500229375 | G6PC1 | c.162G>A (p.Gln54=) n.227G>A | gnomAD v4 |
17 | g.42901038G>C | CA399650969 | G6PC1 | c.162G>C (p.Gln54His) n.227G>C | |
17 | g.42901038G>T | CA399650973 | G6PC1 | c.162G>T (p.Gln54His) n.227G>T | |
17 | g.42901039G>A | CA399650976 | G6PC1 | c.163G>A (p.Glu55Lys) n.228G>A | |
17 | g.42901039G>C | CA399650979 | G6PC1 | c.163G>C (p.Glu55Gln) n.228G>C | |
17 | g.42901039G>T | CA399650982 | G6PC1 | c.163G>T (p.Glu55Ter) n.228G>T | |
17 | g.42901040A>C | CA399650986 | G6PC1 | c.164A>C (p.Glu55Ala) n.229A>C | |
17 | g.42901040A>G | CA399650990 | G6PC1 | c.164A>G (p.Glu55Gly) n.229A>G | |
17 | g.42901040A>T | CA399650993 | G6PC1 | c.164A>T (p.Glu55Val) n.229A>T | |
17 | g.42901041A>C | CA399650997 | G6PC1 | c.165A>C (p.Glu55Asp) n.230A>C | |
17 | g.42901041A>G | CA500229376 | G6PC1 | c.165A>G (p.Glu55=) n.230A>G | |
17 | g.42901041A>T | CA399651000 | G6PC1 | c.165A>T (p.Glu55Asp) n.230A>T | |
17 | g.42901042G>A | CA399651017 | G6PC1 | c.166G>A (p.Ala56Thr) n.231G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901042G>C | CA399651020 | G6PC1 | c.166G>C (p.Ala56Pro) n.231G>C | |
17 | g.42901042G= | CA2260692903 | G6PC1 | c.166G= (p.Ala56=) n.231G= | |
17 | g.42901042G>T | CA399651027 | G6PC1 | c.166G>T (p.Ala56Ser) n.231G>T | |
17 | g.42901043C>A | CA399651030 | G6PC1 | c.167C>A (p.Ala56Asp) n.232C>A | ClinVar dbSNP |
17 | g.42901043C= | CA2260692904 | G6PC1 | c.167C= (p.Ala56=) n.232C= | |
17 | g.42901043C>G | CA399651040 | G6PC1 | c.167C>G (p.Ala56Gly) n.232C>G | |
17 | g.42901043C>T | CA399651033 | G6PC1 | c.167C>T (p.Ala56Val) n.232C>T | |
17 | g.42901044T>A | CA500229377 | G6PC1 | c.168T>A (p.Ala56=) n.233T>A | |
17 | g.42901044T>C | CA500229378 | G6PC1 | c.168T>C (p.Ala56=) n.233T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42901044T>G | CA500229379 | G6PC1 | c.168T>G (p.Ala56=) n.233T>G | |
17 | g.42901044T= | CA2260692905 | G6PC1 | c.168T= (p.Ala56=) n.233T= | |
17 | g.42901045G>A | CA399651043 | G6PC1 | c.169G>A (p.Val57Met) n.234G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42901045G>C | CA399651044 | G6PC1 | c.169G>C (p.Val57Leu) n.234G>C | |
17 | g.42901045G= | CA2260692906 | G6PC1 | c.169G= (p.Val57=) n.234G= | |
17 | g.42901045G>T | CA399651046 | G6PC1 | c.169G>T (p.Val57Leu) n.234G>T | |
17 | g.42901046T>A | CA399651050 | G6PC1 | c.170T>A (p.Val57Glu) n.235T>A | |
17 | g.42901046T>C | CA399651053 | G6PC1 | c.170T>C (p.Val57Ala) n.235T>C | |
17 | g.42901046T>G | CA399651056 | G6PC1 | c.170T>G (p.Val57Gly) n.235T>G | |
17 | g.42901047G>A | CA500229382 | G6PC1 | c.171G>A (p.Val57=) n.236G>A | |
17 | g.42901047G>C | CA500229380 | G6PC1 | c.171G>C (p.Val57=) n.236G>C | |
17 | g.42901047G>T | CA500229381 | G6PC1 | c.171G>T (p.Val57=) n.236G>T | |
17 | g.42901048_42901049del | CA2695226076 | G6PC1 | c.172_173del (p.Gly58HisfsTer2) n.237_238del | |
17 | g.42901048G>A | CA399651061 | G6PC1 | c.172G>A (p.Gly58Ser) n.237G>A | ClinVar gnomAD v4 |
17 | g.42901048G>C | CA399651064 | G6PC1 | c.172G>C (p.Gly58Arg) n.237G>C | |
17 | g.42901048G>T | CA399651067 | G6PC1 | c.172G>T (p.Gly58Cys) n.237G>T | gnomAD v4 |
17 | g.42901049G>A | CA399651078 | G6PC1 | c.173G>A (p.Gly58Asp) n.238G>A | |
17 | g.42901049G>C | CA399651075 | G6PC1 | c.173G>C (p.Gly58Ala) n.238G>C | |
17 | g.42901049G>T | CA399651071 | G6PC1 | c.173G>T (p.Gly58Val) n.238G>T | |
17 | g.42901050C>A | CA500229383 | G6PC1 | c.174C>A (p.Gly58=) n.239C>A | |
17 | g.42901050C= | CA2260692907 | G6PC1 | c.174C= (p.Gly58=) n.239C= | |
17 | g.42901050C>G | CA500229384 | G6PC1 | c.174C>G (p.Gly58=) n.239C>G | |
17 | g.42901050C>T | CA500229385 | G6PC1 | c.174C>T (p.Gly58=) n.239C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901051A= | CA2260692908 | G6PC1 | c.175A= (p.Ile59=) n.240A= | |
17 | g.42901051A>C | CA399651083 | G6PC1 | c.175A>C (p.Ile59Leu) n.240A>C | dbSNP gnomAD v2 |
17 | g.42901051A>G | CA8587497 | G6PC1 | c.175A>G (p.Ile59Val) n.240A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901051A>T | CA290783747 | G6PC1 | c.175A>T (p.Ile59Phe) n.240A>T | dbSNP |
17 | g.42901052T>A | CA399651098 | G6PC1 | c.176T>A (p.Ile59Asn) n.241T>A | |
17 | g.42901052T>C | CA399651103 | G6PC1 | c.176T>C (p.Ile59Thr) n.241T>C | |
17 | g.42901052T>G | CA399651104 | G6PC1 | c.176T>G (p.Ile59Ser) n.241T>G | |
17 | g.42901053T>A | CA500229388 | G6PC1 | c.177T>A (p.Ile59=) n.242T>A | |
17 | g.42901053T>C | CA500229389 | G6PC1 | c.177T>C (p.Ile59=) n.242T>C | |
17 | g.42901053T>G | CA399651108 | G6PC1 | c.177T>G (p.Ile59Met) n.242T>G | |
17 | g.42901054A= | CA2260692909 | G6PC1 | c.178A= (p.Lys60=) n.243A= | |
17 | g.42901054A>C | CA399651111 | G6PC1 | c.178A>C (p.Lys60Gln) n.243A>C | dbSNP |
17 | g.42901054A>G | CA399651116 | G6PC1 | c.178A>G (p.Lys60Glu) n.243A>G | |
17 | g.42901054A>T | CA399651119 | G6PC1 | c.178A>T (p.Lys60Ter) n.243A>T | |
17 | g.42901055A= | CA2260692910 | G6PC1 | c.179A= (p.Lys60=) n.244A= | |
17 | g.42901055A>C | CA399651129 | G6PC1 | c.179A>C (p.Lys60Thr) n.244A>C | COSMIC |
17 | g.42901055A>G | CA8587498 | G6PC1 | c.179A>G (p.Lys60Arg) n.244A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42901055A>T | CA399651134 | G6PC1 | c.179A>T (p.Lys60Ile) n.244A>T | |
17 | g.42901056A>C | CA399651142 | G6PC1 | c.180A>C (p.Lys60Asn) n.245A>C | |
17 | g.42901056A>G | CA500229392 | G6PC1 | c.180A>G (p.Lys60=) n.245A>G | |
17 | g.42901056A>T | CA399651139 | G6PC1 | c.180A>T (p.Lys60Asn) n.245A>T | |
17 | g.42901057C>A | CA399651148 | G6PC1 | c.181C>A (p.Leu61Ile) n.246C>A | |
17 | g.42901057C>G | CA399651152 | G6PC1 | c.181C>G (p.Leu61Val) n.246C>G | |
17 | g.42901057C>T | CA399651154 | G6PC1 | c.181C>T (p.Leu61Phe) n.246C>T | ClinVar gnomAD v4 |
17 | g.42901058T>A | CA399651156 | G6PC1 | c.182T>A (p.Leu61His) n.247T>A | |
17 | g.42901058T>C | CA399651158 | G6PC1 | c.182T>C (p.Leu61Pro) n.247T>C | COSMIC |
17 | g.42901058T>G | CA399651160 | G6PC1 | c.182T>G (p.Leu61Arg) n.247T>G | |
17 | g.42901059C>A | CA500229396 | G6PC1 | c.183C>A (p.Leu61=) n.248C>A | |
17 | g.42901059C= | CA2260692911 | G6PC1 | c.183C= (p.Leu61=) n.248C= | |
17 | g.42901059C>G | CA500229394 | G6PC1 | c.183C>G (p.Leu61=) n.248C>G | |
17 | g.42901059C>T | CA500229395 | G6PC1 | c.183C>T (p.Leu61=) n.248C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42901060C>A | CA399651164 | G6PC1 | c.184C>A (p.Leu62Ile) n.249C>A | |
17 | g.42901060C= | CA2260692912 | G6PC1 | c.184C= (p.Leu62=) n.249C= | |
17 | g.42901060C>G | CA399651166 | G6PC1 | c.184C>G (p.Leu62Val) n.249C>G | |
17 | g.42901060C>T | CA8587499 | G6PC1 | c.184C>T (p.Leu62Phe) n.249C>T | dbSNP ExAC gnomAD v2 |
17 | g.42901061T>A | CA399651179 | G6PC1 | c.185T>A (p.Leu62His) n.250T>A | |
17 | g.42901061T>C | CA399651182 | G6PC1 | c.185T>C (p.Leu62Pro) n.250T>C | |
17 | g.42901061T>G | CA399651186 | G6PC1 | c.185T>G (p.Leu62Arg) n.250T>G | dbSNP |
17 | g.42901061T= | CA2260692913 | G6PC1 | c.185T= (p.Leu62=) n.250T= | |
17 | g.42901062T>A | CA500229400 | G6PC1 | c.186T>A (p.Leu62=) n.251T>A | |
17 | g.42901062T>C | CA500229401 | G6PC1 | c.186T>C (p.Leu62=) n.251T>C | dbSNP |
17 | g.42901062T>G | CA500229402 | G6PC1 | c.186T>G (p.Leu62=) n.251T>G | |
17 | g.42901063T>A | CA399651204 | G6PC1 | c.187T>A (p.Trp63Arg) n.252T>A | |
17 | g.42901063T>C | CA399651195 | G6PC1 | c.187T>C (p.Trp63Arg) n.252T>C | |
17 | g.42901063T>G | CA399651189 | G6PC1 | c.187T>G (p.Trp63Gly) n.252T>G | |
17 | g.42901064G>A | CA399651208 | G6PC1 | c.188G>A (p.Trp63Ter) n.253G>A | |
17 | g.42901064G>C | CA399651226 | G6PC1 | c.188G>C (p.Trp63Ser) n.253G>C | |
17 | g.42901064G>T | CA399651212 | G6PC1 | c.188G>T (p.Trp63Leu) n.253G>T | |
17 | g.42901066del | CA2638039656 | G6PC1 | c.190del (p.Val64Ter) n.255del | gnomAD v4 |
17 | g.42901065G>A | CA274195 | G6PC1 | c.189G>A (p.Trp63Ter) n.254G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901065G>C | CA399651240 | G6PC1 | c.189G>C (p.Trp63Cys) n.254G>C | ClinVar |
17 | g.42901065G= | CA2260692914 | G6PC1 | c.189G= (p.Trp63=) n.254G= | |
17 | g.42901065G>T | CA399651252 | G6PC1 | c.189G>T (p.Trp63Cys) n.254G>T | COSMIC |
17 | g.42901066G>A | CA399651256 | G6PC1 | c.190G>A (p.Val64Ile) n.255G>A | gnomAD v4 |
17 | g.42901066G>C | CA399651261 | G6PC1 | c.190G>C (p.Val64Leu) n.255G>C | |
17 | g.42901066G>T | CA399651266 | G6PC1 | c.190G>T (p.Val64Leu) n.255G>T | |
17 | g.42901067T>A | CA399651269 | G6PC1 | c.191T>A (p.Val64Glu) n.256T>A | |
17 | g.42901067T>C | CA399651277 | G6PC1 | c.191T>C (p.Val64Ala) n.256T>C | gnomAD v4 |
17 | g.42901067T>G | CA399651281 | G6PC1 | c.191T>G (p.Val64Gly) n.256T>G | |
17 | g.42901068A>C | CA500229404 | G6PC1 | c.192A>C (p.Val64=) n.257A>C | |
17 | g.42901068A>G | CA500229406 | G6PC1 | c.192A>G (p.Val64=) n.257A>G | |
17 | g.42901068A>T | CA500229405 | G6PC1 | c.192A>T (p.Val64=) n.257A>T | gnomAD v4 |
17 | g.42901069G>A | CA399651285 | G6PC1 | c.193G>A (p.Ala65Thr) n.258G>A | |
17 | g.42901069G>C | CA399651288 | G6PC1 | c.193G>C (p.Ala65Pro) n.258G>C | ClinVar dbSNP |
17 | g.42901069G= | CA2260692915 | G6PC1 | c.193G= (p.Ala65=) n.258G= | |
17 | g.42901069G>T | CA8587500 | G6PC1 | c.193G>T (p.Ala65Ser) n.258G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901070C>A | CA399651293 | G6PC1 | c.194C>A (p.Ala65Asp) n.259C>A | |
17 | g.42901070C>G | CA399651290 | G6PC1 | c.194C>G (p.Ala65Gly) n.259C>G | |
17 | g.42901070C>T | CA399651289 | G6PC1 | c.194C>T (p.Ala65Val) n.259C>T | gnomAD v4 |
17 | g.42901071T>A | CA500229407 | G6PC1 | c.195T>A (p.Ala65=) n.260T>A | ClinVar gnomAD v4 |
17 | g.42901071T>C | CA500229408 | G6PC1 | c.195T>C (p.Ala65=) n.260T>C | |
17 | g.42901071T>G | CA500229409 | G6PC1 | c.195T>G (p.Ala65=) n.260T>G | |
17 | g.42901072G>A | CA399651297 | G6PC1 | c.196G>A (p.Val66Met) n.261G>A | |
17 | g.42901072G>C | CA399651306 | G6PC1 | c.196G>C (p.Val66Leu) n.261G>C | |
17 | g.42901072G>T | CA399651310 | G6PC1 | c.196G>T (p.Val66Leu) n.261G>T | |
17 | g.42901073T>A | CA399651317 | G6PC1 | c.197T>A (p.Val66Glu) n.262T>A | |
17 | g.42901073T>C | CA399651320 | G6PC1 | c.197T>C (p.Val66Ala) n.262T>C | |
17 | g.42901073T>G | CA399651324 | G6PC1 | c.197T>G (p.Val66Gly) n.262T>G | |
17 | g.42901074G>A | CA500229410 | G6PC1 | c.198G>A (p.Val66=) n.263G>A | |
17 | g.42901074G>C | CA500229411 | G6PC1 | c.198G>C (p.Val66=) n.263G>C | |
17 | g.42901074G>T | CA500229412 | G6PC1 | c.198G>T (p.Val66=) n.263G>T | |
17 | g.42901075A>C | CA399651330 | G6PC1 | c.199A>C (p.Ile67Leu) n.264A>C | |
17 | g.42901075A>G | CA399651332 | G6PC1 | c.199A>G (p.Ile67Val) n.264A>G | |
17 | g.42901075A>T | CA399651338 | G6PC1 | c.199A>T (p.Ile67Phe) n.264A>T | gnomAD v4 |
17 | g.42901076T>A | CA399651361 | G6PC1 | c.200T>A (p.Ile67Asn) n.265T>A | |
17 | g.42901076T>C | CA399651363 | G6PC1 | c.200T>C (p.Ile67Thr) n.265T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42901076T>G | CA399651367 | G6PC1 | c.200T>G (p.Ile67Ser) n.265T>G | |
17 | g.42901076T= | CA2260692916 | G6PC1 | c.200T= (p.Ile67=) n.265T= | |
17 | g.42901077T>A | CA500229413 | G6PC1 | c.201T>A (p.Ile67=) n.266T>A | |
17 | g.42901077T>C | CA500229414 | G6PC1 | c.201T>C (p.Ile67=) n.266T>C | gnomAD v4 |
17 | g.42901077T>G | CA290783760 | G6PC1 | c.201T>G (p.Ile67Met) n.266T>G | dbSNP |
17 | g.42901077T= | CA2260692917 | G6PC1 | c.201T= (p.Ile67=) n.266T= | |
17 | g.42901078G>A | CA399651372 | G6PC1 | c.202G>A (p.Gly68Arg) n.267G>A | ClinVar dbSNP |
17 | g.42901078G>C | CA399651375 | G6PC1 | c.202G>C (p.Gly68Arg) n.267G>C | |
17 | g.42901078G= | CA2260692918 | G6PC1 | c.202G= (p.Gly68=) n.267G= | |
17 | g.42901078G>T | CA399651370 | G6PC1 | c.202G>T (p.Gly68Ter) n.267G>T | |
17 | g.42901079G>A | CA399651376 | G6PC1 | c.203G>A (p.Gly68Glu) n.268G>A | |
17 | g.42901079G>C | CA399651377 | G6PC1 | c.203G>C (p.Gly68Ala) n.268G>C | |
17 | g.42901079G>T | CA399651378 | G6PC1 | c.203G>T (p.Gly68Val) n.268G>T | |
17 | g.42901080A>C | CA500229415 | G6PC1 | c.204A>C (p.Gly68=) n.269A>C | |
17 | g.42901080A>G | CA500229417 | G6PC1 | c.204A>G (p.Gly68=) n.269A>G | |
17 | g.42901080A>T | CA500229416 | G6PC1 | c.204A>T (p.Gly68=) n.269A>T | |
17 | g.42901081G>A | CA399651381 | G6PC1 | c.205G>A (p.Asp69Asn) n.270G>A | |
17 | g.42901081G>C | CA399651390 | G6PC1 | c.205G>C (p.Asp69His) n.270G>C | |
17 | g.42901081G>T | CA399651393 | G6PC1 | c.205G>T (p.Asp69Tyr) n.270G>T | gnomAD v4 |
17 | g.42901082A>C | CA399651409 | G6PC1 | c.206A>C (p.Asp69Ala) n.271A>C | |
17 | g.42901082A>G | CA399651416 | G6PC1 | c.206A>G (p.Asp69Gly) n.271A>G | |
17 | g.42901082A>T | CA399651418 | G6PC1 | c.206A>T (p.Asp69Val) n.271A>T | |
17 | g.42901083C>A | CA399651431 | G6PC1 | c.207C>A (p.Asp69Glu) n.272C>A | |
17 | g.42901083C>G | CA399651434 | G6PC1 | c.207C>G (p.Asp69Glu) n.272C>G | |
17 | g.42901083C>T | CA500229418 | G6PC1 | c.207C>T (p.Asp69=) n.272C>T | |
17 | g.42901083_42901084delinsCT | CA2260692919 | G6PC1 | c.207_208delinsCT (p.Asp69=) n.272_273delinsCT | |
17 | g.42901084del | CA2260692920 | G6PC1 | c.208del (p.Trp70GlyfsTer?) n.273del | ClinVar dbSNP |
17 | g.42901084T>A | CA399651445 | G6PC1 | c.208T>A (p.Trp70Arg) n.273T>A | |
17 | g.42901084T>C | CA8587501 | G6PC1 | c.208T>C (p.Trp70Arg) n.273T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42901084T>G | CA399651438 | G6PC1 | c.208T>G (p.Trp70Gly) n.273T>G | gnomAD v4 |
17 | g.42901084T= | CA2260692921 | G6PC1 | c.208T= (p.Trp70=) n.273T= | |
17 | g.42901085G>A | CA399651447 | G6PC1 | c.209G>A (p.Trp70Ter) n.274G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901085G>C | CA399651450 | G6PC1 | c.209G>C (p.Trp70Ser) n.274G>C | ClinVar dbSNP |
17 | g.42901085G= | CA2260692922 | G6PC1 | c.209G= (p.Trp70=) n.274G= | |
17 | g.42901085G>T | CA399651451 | G6PC1 | c.209G>T (p.Trp70Leu) n.274G>T | |
17 | g.42901086G>A | CA399651452 | G6PC1 | c.210G>A (p.Trp70Ter) n.275G>A | |
17 | g.42901086G>C | CA399651453 | G6PC1 | c.210G>C (p.Trp70Cys) n.275G>C | |
17 | g.42901086G>T | CA399651455 | G6PC1 | c.210G>T (p.Trp70Cys) n.275G>T | gnomAD v4 |
17 | g.42901087del | CA2580093769 | G6PC1 | c.211del (p.Leu71SerfsTer?) n.276del | ClinVar |
17 | g.42901087C>A | CA399651458 | G6PC1 | c.211C>A (p.Leu71Ile) n.276C>A | |
17 | g.42901087C>G | CA399651459 | G6PC1 | c.211C>G (p.Leu71Val) n.276C>G | |
17 | g.42901087C>T | CA399651461 | G6PC1 | c.211C>T (p.Leu71Phe) n.276C>T | |
17 | g.42901088T>A | CA399651465 | G6PC1 | c.212T>A (p.Leu71His) n.277T>A | |
17 | g.42901088T>C | CA399651469 | G6PC1 | c.212T>C (p.Leu71Pro) n.277T>C | |
17 | g.42901088T>G | CA399651470 | G6PC1 | c.212T>G (p.Leu71Arg) n.277T>G | |
17 | g.42901089C>A | CA500229386 | G6PC1 | c.213C>A (p.Leu71=) n.278C>A | |
17 | g.42901089C>G | CA500229387 | G6PC1 | c.213C>G (p.Leu71=) n.278C>G | |
17 | g.42901089C>T | CA500229390 | G6PC1 | c.213C>T (p.Leu71=) n.278C>T | gnomAD v4 |
17 | g.42901090A>C | CA399651477 | G6PC1 | c.214A>C (p.Asn72His) n.279A>C | |
17 | g.42901090A>G | CA399651480 | G6PC1 | c.214A>G (p.Asn72Asp) n.279A>G | |
17 | g.42901090A>T | CA399651474 | G6PC1 | c.214A>T (p.Asn72Tyr) n.279A>T | |
17 | g.42901091A= | CA2260692923 | G6PC1 | c.215A= (p.Asn72=) n.280A= | |
17 | g.42901091A>C | CA399651488 | G6PC1 | c.215A>C (p.Asn72Thr) n.280A>C | |
17 | g.42901091A>G | CA8587502 | G6PC1 | c.215A>G (p.Asn72Ser) n.280A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901091A>T | CA399651486 | G6PC1 | c.215A>T (p.Asn72Ile) n.280A>T | |
17 | g.42901092C>A | CA399651492 | G6PC1 | c.216C>A (p.Asn72Lys) n.281C>A | |
17 | g.42901092C>G | CA399651494 | G6PC1 | c.216C>G (p.Asn72Lys) n.281C>G | |
17 | g.42901092C>T | CA500229391 | G6PC1 | c.216C>T (p.Asn72=) n.281C>T | ClinVar dbSNP gnomAD v4 |