Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136673673_136673699dup | CA2692653646 | AGPAT2 | c.*55_*81dup (n.*55_*81dup) | gnomAD v4 |
9 | g.136673693_136673721del | CA2692653662 | AGPAT2 | c.*37_*65del (n.*37_*65del) | gnomAD v4 |
9 | g.136673692del | CA2692653666 | AGPAT2 | c.*62del (n.*62del) | gnomAD v4 |
9 | g.136673692C>A | CA2692653672 | AGPAT2 | c.*60G>T (n.*60G>T) | gnomAD v4 |
9 | g.136673692C>T | CA2692653671 | AGPAT2 | c.*60G>A (n.*60G>A) | gnomAD v4 |
9 | g.136673693A>G | CA2692653673 | AGPAT2 | c.*59T>C (n.*59T>C) | gnomAD v4 |
9 | g.136673694T>A | CA2720854507 | AGPAT2 | c.*58A>T (n.*58A>T) | dbSNP |
9 | g.136673695C>A | CA2692653674 | AGPAT2 | c.*57G>T (n.*57G>T) | gnomAD v4 |
9 | g.136673695C>G | CA2579519870 | AGPAT2 | c.*57G>C (n.*57G>C) | |
9 | g.136673695C>T | CA591183499 | AGPAT2 | c.*57G>A (n.*57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673696C>A | CA2692653675 | AGPAT2 | c.*56G>T (n.*56G>T) | gnomAD v4 |
9 | g.136673696C>T | CA2692653676 | AGPAT2 | c.*56G>A (n.*56G>A) | gnomAD v4 |
9 | g.136673697T>C | CA2692653677 | AGPAT2 | c.*55A>G (n.*55A>G) | gnomAD v4 |
9 | g.136673698C>A | CA2692653678 | AGPAT2 | c.*54G>T (n.*54G>T) | gnomAD v4 |
9 | g.136673698C>T | CA2579519871 | AGPAT2 | c.*54G>A (n.*54G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673699C>A | CA2692653679 | AGPAT2 | c.*53G>T (n.*53G>T) | gnomAD v4 |
9 | g.136673699C>T | CA2692653680 | AGPAT2 | c.*53G>A (n.*53G>A) | gnomAD v4 |
9 | g.136673701G>A | CA201623426 | AGPAT2 | c.*51C>T (n.*51C>T) | dbSNP gnomAD v4 |
9 | g.136673701G>T | CA2692653681 | AGPAT2 | c.*51C>A (n.*51C>A) | gnomAD v4 |
9 | g.136673702C>A | CA2692653682 | AGPAT2 | c.*50G>T (n.*50G>T) | gnomAD v4 |
9 | g.136673702C>T | CA2692653683 | AGPAT2 | c.*50G>A (n.*50G>A) | gnomAD v4 |
9 | g.136673703C>A | CA5342783 | AGPAT2 | c.*49G>T (n.*49G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673703C>T | CA2692653684 | AGPAT2 | c.*49G>A (n.*49G>A) | gnomAD v4 |
9 | g.136673704A>C | CA2720761015 | AGPAT2 | c.*48T>G (n.*48T>G) | dbSNP |
9 | g.136673704A>G | CA5342784 | AGPAT2 | c.*48T>C (n.*48T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673705T>C | CA2692653685 | AGPAT2 | c.*47A>G (n.*47A>G) | gnomAD v4 |
9 | g.136673706C>A | CA2692653686 | AGPAT2 | c.*46G>T (n.*46G>T) | dbSNP gnomAD v4 |
9 | g.136673706C>G | CA2692653687 | AGPAT2 | c.*46G>C (n.*46G>C) | gnomAD v4 |
9 | g.136673706C>T | CA5342786 | AGPAT2 | c.*46G>A (n.*46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673706_136673707dup | CA5342785 | AGPAT2 | c.*45_*46dup (n.*45_*46dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673706_136673707insCA | CA2497275504 | AGPAT2 | c.*45_*46insTG (n.*45_*46insTG) | dbSNP gnomAD v4 |
9 | g.136673707G>A | CA5342787 | AGPAT2 | c.*45C>T (n.*45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673707G>C | CA861080414 | AGPAT2 | c.*45C>G (n.*45C>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673707G>T | CA5342788 | AGPAT2 | c.*45C>A (n.*45C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673708G>A | CA2692653688 | AGPAT2 | c.*44C>T (n.*44C>T) | gnomAD v4 |
9 | g.136673708G>C | CA2692653689 | AGPAT2 | c.*44C>G (n.*44C>G) | gnomAD v4 |
9 | g.136673708G>T | CA2692653690 | AGPAT2 | c.*44C>A (n.*44C>A) | gnomAD v4 |
9 | g.136673709C>A | CA2692653691 | AGPAT2 | c.*43G>T (n.*43G>T) n.808G>T | gnomAD v4 |
9 | g.136673710T>C | CA2692653692 | AGPAT2 | c.*42A>G (n.*42A>G) n.807A>G | gnomAD v4 |
9 | g.136673711dup | CA375576028 | AGPAT2 | c.*42dup (n.*42dup) n.807dup | dbSNP |
9 | g.136673711T>C | CA2692653693 | AGPAT2 | c.*41A>G (n.*41A>G) n.806A>G | gnomAD v4 |
9 | g.136673712C>A | CA2692653694 | AGPAT2 | c.*40G>T (n.*40G>T) n.805G>T | gnomAD v4 |
9 | g.136673712C>T | CA5342789 | AGPAT2 | c.*40G>A (n.*40G>A) n.805G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673713C>A | CA2692653695 | AGPAT2 | c.*39G>T (n.*39G>T) n.804G>T | gnomAD v4 |
9 | g.136673713C>G | CA2720766642 | AGPAT2 | c.*39G>C (n.*39G>C) n.804G>C | dbSNP |
9 | g.136673713C>T | CA5342790 | AGPAT2 | c.*39G>A (n.*39G>A) n.804G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673714A>C | CA5342791 | AGPAT2 | c.*38T>G (n.*38T>G) n.803T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673714A>G | CA2692653696 | AGPAT2 | c.*38T>C (n.*38T>C) n.803T>C | gnomAD v4 |
9 | g.136673715C>A | CA2692653697 | AGPAT2 | c.*37G>T (n.*37G>T) n.802G>T | gnomAD v4 |
9 | g.136673716C>A | CA2692653698 | AGPAT2 | c.*36G>T (n.*36G>T) n.801G>T | gnomAD v4 |
9 | g.136673716C>T | CA1130032996 | AGPAT2 | c.*36G>A (n.*36G>A) n.801G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673717T>C | CA2692653699 | AGPAT2 | c.*35A>G (n.*35A>G) n.800A>G | gnomAD v4 |
9 | g.136673718G>A | CA5342793 | AGPAT2 | c.*34C>T (n.*34C>T) n.799C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673718G>C | CA5342792 | AGPAT2 | c.*34C>G (n.*34C>G) n.799C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673718G>T | CA653636012 | AGPAT2 | c.*34C>A (n.*34C>A) n.799C>A | gnomAD v4 COSMIC |
9 | g.136673719C>A | CA2692653700 | AGPAT2 | c.*33G>T (n.*33G>T) n.798G>T | gnomAD v4 |
9 | g.136673719C>T | CA861080421 | AGPAT2 | c.*33G>A (n.*33G>A) n.798G>A | dbSNP gnomAD v4 |
9 | g.136673721del | CA2692653701 | AGPAT2 | c.*33del (n.*33del) n.798del | gnomAD v4 |
9 | g.136673720C>A | CA2692653702 | AGPAT2 | c.*32G>T (n.*32G>T) n.797G>T | gnomAD v4 |
9 | g.136673720C>T | CA2579519872 | AGPAT2 | c.*32G>A (n.*32G>A) n.797G>A | gnomAD v4 |
9 | g.136673721C>A | CA2692653703 | AGPAT2 | c.*31G>T (n.*31G>T) n.796G>T | gnomAD v4 |
9 | g.136673721C>T | CA5342794 | AGPAT2 | c.*31G>A (n.*31G>A) n.796G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673722T>C | CA2692653704 | AGPAT2 | c.*30A>G (n.*30A>G) n.795A>G | gnomAD v4 |
9 | g.136673723C>A | CA2692653706 | AGPAT2 | c.*29G>T (n.*29G>T) n.794G>T | gnomAD v4 |
9 | g.136673726del | CA2692653705 | AGPAT2 | c.*29del (n.*29del) n.794del | gnomAD v4 |
9 | g.136673724C>A | CA2692653707 | AGPAT2 | c.*28G>T (n.*28G>T) n.793G>T | gnomAD v4 |
9 | g.136673724C>T | CA2692653708 | AGPAT2 | c.*28G>A (n.*28G>A) n.793G>A | gnomAD v4 |
9 | g.136673724_136673727del | CA918577849 | AGPAT2 | c.*25_*28del (n.*25_*28del) n.790_793del | dbSNP gnomAD v4 |
9 | g.136673725C>A | CA2692653709 | AGPAT2 | c.*27G>T (n.*27G>T) n.792G>T | gnomAD v4 |
9 | g.136673725C>G | CA2692653710 | AGPAT2 | c.*27G>C (n.*27G>C) n.792G>C | gnomAD v4 |
9 | g.136673725C>T | CA2692653711 | AGPAT2 | c.*27G>A (n.*27G>A) n.792G>A | gnomAD v4 |
9 | g.136673726C>A | CA2692653712 | AGPAT2 | c.*26G>T (n.*26G>T) n.791G>T | gnomAD v4 |
9 | g.136673726C>G | CA2692653713 | AGPAT2 | c.*26G>C (n.*26G>C) n.791G>C | dbSNP gnomAD v4 |
9 | g.136673726C>T | CA2579519873 | AGPAT2 | c.*26G>A (n.*26G>A) n.791G>A | gnomAD v4 |
9 | g.136673728G>A | CA2692653714 | AGPAT2 | c.*24C>T (n.*24C>T) n.789C>T | gnomAD v4 |
9 | g.136673728G>T | CA2692653715 | AGPAT2 | c.*24C>A (n.*24C>A) n.789C>A | gnomAD v4 |
9 | g.136673729G>A | CA2692653716 | AGPAT2 | c.*23C>T (n.*23C>T) n.788C>T | gnomAD v4 |
9 | g.136673729G>C | CA591183509 | AGPAT2 | c.*23C>G (n.*23C>G) n.788C>G | dbSNP gnomAD v2 |
9 | g.136673729G>T | CA201623469 | AGPAT2 | c.*23C>A (n.*23C>A) n.788C>A | dbSNP |
9 | g.136673730T>A | CA2692653717 | AGPAT2 | c.*22A>T (n.*22A>T) n.787A>T | gnomAD v4 |
9 | g.136673730T>C | CA2692653718 | AGPAT2 | c.*22A>G (n.*22A>G) n.787A>G | gnomAD v4 |
9 | g.136673731C>A | CA2692653719 | AGPAT2 | c.*21G>T (n.*21G>T) n.786G>T | gnomAD v4 |
9 | g.136673731C>G | CA5342795 | AGPAT2 | c.*21G>C (n.*21G>C) n.786G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673732A>G | CA2692653720 | AGPAT2 | c.*20T>C (n.*20T>C) n.785T>C | gnomAD v4 |
9 | g.136673733T>A | CA2692653721 | AGPAT2 | c.*19A>T (n.*19A>T) n.784A>T | gnomAD v4 |
9 | g.136673734G>T | CA2692653723 | AGPAT2 | c.*18C>A (n.*18C>A) n.783C>A | gnomAD v4 |
9 | g.136673734_136673735insGG | CA2692653722 | AGPAT2 | c.*18_*19insCC (n.*18_*19insCC) n.783_784insCC | gnomAD v4 |
9 | g.136673735C>A | CA5342797 | AGPAT2 | c.*17G>T (n.*17G>T) n.782G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673735C>G | CA591183512 | AGPAT2 | c.*17G>C (n.*17G>C) n.782G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673735C>T | CA5342796 | AGPAT2 | c.*17G>A (n.*17G>A) n.782G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673735_136673736insA | CA2692653725 | AGPAT2 | c.*16_*17insT (n.*16_*17insT) n.781_782insT | gnomAD v4 |
9 | g.136673736C>A | CA2692653724 | AGPAT2 | c.*16G>T (n.*16G>T) n.781G>T | gnomAD v4 |
9 | g.136673736C>T | CA2786279652 | AGPAT2 | c.*16G>A (n.*16G>A) n.781G>A | |
9 | g.136673737C>A | CA2579519874 | AGPAT2 | c.*15G>T (n.*15G>T) n.780G>T | gnomAD v4 |
9 | g.136673738T>A | CA1130033008 | AGPAT2 | c.*14A>T (n.*14A>T) n.779A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673738_136673743del | CA2497275505 | AGPAT2 | c.*9_*14del (n.*9_*14del) n.774_779del | dbSNP |
9 | g.136673739G>A | CA2692653726 | AGPAT2 | c.*13C>T (n.*13C>T) n.778C>T | gnomAD v4 |
9 | g.136673739G>T | CA2692653727 | AGPAT2 | c.*13C>A (n.*13C>A) n.778C>A | gnomAD v4 |
9 | g.136673740C>A | CA2692653729 | AGPAT2 | c.*12G>T (n.*12G>T) n.777G>T | gnomAD v4 |
9 | g.136673740C>T | CA2692653728 | AGPAT2 | c.*12G>A (n.*12G>A) n.777G>A | gnomAD v4 |
9 | g.136673740_136673741del | CA1130033011 | AGPAT2 | c.*11_*12del (n.*11_*12del) n.776_777del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673741del | CA5342798 | AGPAT2 | c.*12del (n.*12del) n.777del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673741C>A | CA2692653730 | AGPAT2 | c.*11G>T (n.*11G>T) n.776G>T | gnomAD v4 |
9 | g.136673741C>G | CA2692653731 | AGPAT2 | c.*11G>C (n.*11G>C) n.776G>C | gnomAD v4 |
9 | g.136673741C>T | CA5342799 | AGPAT2 | c.*11G>A (n.*11G>A) n.776G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673742G>A | CA5342800 | AGPAT2 | c.*10C>T (n.*10C>T) n.775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673743T>C | CA1130033030 | AGPAT2 | c.*9A>G (n.*9A>G) n.774A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673743_136673746del | CA1130033021 | AGPAT2 | c.*6_*9del (n.*6_*9del) n.771_774del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673744G>A | CA2692653732 | AGPAT2 | c.*8C>T (n.*8C>T) n.773C>T | dbSNP gnomAD v4 |
9 | g.136673744G>T | CA2692653733 | AGPAT2 | c.*8C>A (n.*8C>A) n.773C>A | gnomAD v4 |
9 | g.136673745G>A | CA2692653735 | AGPAT2 | c.*7C>T (n.*7C>T) n.772C>T | gnomAD v4 |
9 | g.136673745G>T | CA2692653734 | AGPAT2 | c.*7C>A (n.*7C>A) n.772C>A | gnomAD v4 |
9 | g.136673746T>C | CA2692653736 | AGPAT2 | c.*6A>G (n.*6A>G) n.771A>G | gnomAD v4 |
9 | g.136673746T>G | CA2720854538 | AGPAT2 | c.*6A>C (n.*6A>C) n.771A>C | dbSNP |
9 | g.136673747C>A | CA2692653737 | AGPAT2 | c.*5G>T (n.*5G>T) n.770G>T | dbSNP gnomAD v4 |
9 | g.136673747C>G | CA591183518 | AGPAT2 | c.*5G>C (n.*5G>C) n.770G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673753_136673760del | CA2692653738 | AGPAT2 | c.835_*5del (n.[c.835_*5del;Ter279ThrextTer?]) c.739_*5del (n.[c.739_*5del;Ter247ThrextTer?]) n.763_770del | gnomAD v4 |
9 | g.136673748T>A | CA1130033034 | AGPAT2 | c.*4A>T (n.*4A>T) n.769A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673748T>C | CA2692653739 | AGPAT2 | c.*4A>G (n.*4A>G) n.769A>G | gnomAD v4 |
9 | g.136673748T>G | CA591183523 | AGPAT2 | c.*4A>C (n.*4A>C) n.769A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673749G>A | CA1130033049 | AGPAT2 | c.*3C>T (n.*3C>T) n.768C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673749G>T | CA2692653740 | AGPAT2 | c.*3C>A (n.*3C>A) n.768C>A | dbSNP gnomAD v4 |
9 | g.136673750G>A | CA2692653742 | AGPAT2 | c.*2C>T (n.*2C>T) n.767C>T | gnomAD v4 |
9 | g.136673750G>C | CA2692653741 | AGPAT2 | c.*2C>G (n.*2C>G) n.767C>G | dbSNP gnomAD v4 |
9 | g.136673751G>A | CA2692653744 | AGPAT2 | c.*1C>T (n.*1C>T) n.766C>T | dbSNP gnomAD v4 |
9 | g.136673751G>T | CA2692653743 | AGPAT2 | c.*1C>A (n.*1C>A) n.766C>A | gnomAD v4 |
9 | g.136673752C>A | CA375576040 | AGPAT2 | c.837G>T (p.Ter279Tyr) c.741G>T (p.Ter247Tyr) n.765G>T | gnomAD v4 |
9 | g.136673752C>G | CA375576042 | AGPAT2 | c.837G>C (p.Ter279Tyr) c.741G>C (p.Ter247Tyr) n.765G>C | |
9 | g.136673752C>T | CA467736139 | AGPAT2 | c.837G>A (p.Ter279=) c.741G>A (p.Ter247=) n.765G>A | gnomAD v4 |
9 | g.136673753T>A | CA375576044 | AGPAT2 | c.836A>T (p.Ter279Leu) c.740A>T (p.Ter247Leu) n.764A>T | gnomAD v4 |
9 | g.136673753T>C | CA375576046 | AGPAT2 | c.836A>G (p.Ter279Trp) c.740A>G (p.Ter247Trp) n.764A>G | |
9 | g.136673753T>G | CA375576048 | AGPAT2 | c.836A>C (p.Ter279Ser) c.740A>C (p.Ter247Ser) n.764A>C | |
9 | g.136673754A>C | CA375576050 | AGPAT2 | c.835T>G (p.Ter279Glu) c.739T>G (p.Ter247Glu) n.763T>G | |
9 | g.136673754A>G | CA375576052 | AGPAT2 | c.835T>C (p.Ter279Gln) c.739T>C (p.Ter247Gln) n.763T>C | ClinVar dbSNP gnomAD v4 |
9 | g.136673754A>T | CA375576054 | AGPAT2 | c.835T>A (p.Ter279Lys) c.739T>A (p.Ter247Lys) n.763T>A | |
9 | g.136673754_136673761dup | CA2692653745 | AGPAT2 | c.828_835dup (p.Ter279TrpextTer11) c.732_739dup (p.Ter247TrpextTer11) n.756_763dup | gnomAD v4 |
9 | g.136673755C>A | CA375576056 | AGPAT2 | c.834G>T (p.Gln278His) c.738G>T (p.Gln246His) n.762G>T | |
9 | g.136673755C>G | CA375576058 | AGPAT2 | c.834G>C (p.Gln278His) c.738G>C (p.Gln246His) n.762G>C | |
9 | g.136673755C>T | CA467736156 | AGPAT2 | c.834G>A (p.Gln278=) c.738G>A (p.Gln246=) n.762G>A | gnomAD v4 |
9 | g.136673756T>A | CA375576061 | AGPAT2 | c.833A>T (p.Gln278Leu) c.737A>T (p.Gln246Leu) n.761A>T | |
9 | g.136673756T>C | CA375576062 | AGPAT2 | c.833A>G (p.Gln278Arg) c.737A>G (p.Gln246Arg) n.761A>G | gnomAD v4 |
9 | g.136673756T>G | CA375576064 | AGPAT2 | c.833A>C (p.Gln278Pro) c.737A>C (p.Gln246Pro) n.761A>C | |
9 | g.136673756_136673759dup | CA2692653746 | AGPAT2 | c.830_833dup (p.Gln278HisfsTer?) c.734_737dup (p.Gln246HisfsTer?) n.758_761dup | gnomAD v4 |
9 | g.136673757G>A | CA375576066 | AGPAT2 | c.832C>T (p.Gln278Ter) c.736C>T (p.Gln246Ter) n.760C>T | |
9 | g.136673757G>C | CA375576067 | AGPAT2 | c.832C>G (p.Gln278Glu) c.736C>G (p.Gln246Glu) n.760C>G | |
9 | g.136673757G>T | CA375576065 | AGPAT2 | c.832C>A (p.Gln278Lys) c.736C>A (p.Gln246Lys) n.760C>A | gnomAD v4 |
9 | g.136673758G>A | CA467736167 | AGPAT2 | c.831C>T (p.Ala277=) c.735C>T (p.Ala245=) n.759C>T | gnomAD v4 |
9 | g.136673758G>C | CA467736169 | AGPAT2 | c.831C>G (p.Ala277=) c.735C>G (p.Ala245=) n.759C>G | |
9 | g.136673758G>T | CA467736171 | AGPAT2 | c.831C>A (p.Ala277=) c.735C>A (p.Ala245=) n.759C>A | |
9 | g.136673760_136673825del | CA5342801 | AGPAT2 | c.766_831del (p.Phe256_Ala277del) c.670_735del (p.Phe224_Ala245del) n.694_759del | ExAC gnomAD v2 gnomAD v4 |
9 | g.136673759G>A | CA375576069 | AGPAT2 | c.830C>T (p.Ala277Val) c.734C>T (p.Ala245Val) n.758C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673759G>C | CA375576071 | AGPAT2 | c.830C>G (p.Ala277Gly) c.734C>G (p.Ala245Gly) n.758C>G | |
9 | g.136673759G>T | CA375576072 | AGPAT2 | c.830C>A (p.Ala277Asp) c.734C>A (p.Ala245Asp) n.758C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673760C>A | CA375576075 | AGPAT2 | c.829G>T (p.Ala277Ser) c.733G>T (p.Ala245Ser) n.757G>T | gnomAD v4 |
9 | g.136673760C>G | CA375576077 | AGPAT2 | c.829G>C (p.Ala277Pro) c.733G>C (p.Ala245Pro) n.757G>C | |
9 | g.136673760C>T | CA375576078 | AGPAT2 | c.829G>A (p.Ala277Thr) c.733G>A (p.Ala245Thr) n.757G>A | |
9 | g.136673769_136673770insAGCCCGGCTGCAC | CA2579519875 | AGPAT2 | c.829_830insGCTGTGCAGCCGG (p.Ala277GlyfsTer?) c.733_734insGCTGTGCAGCCGG (p.Ala245GlyfsTer?) n.757_758insGCTGTGCAGCCGG | |
9 | g.136673761C>A | CA467736186 | AGPAT2 | c.828G>T (p.Pro276=) c.732G>T (p.Pro244=) n.756G>T | dbSNP gnomAD v4 COSMIC |
9 | g.136673761C>G | CA467736189 | AGPAT2 | c.828G>C (p.Pro276=) c.732G>C (p.Pro244=) n.756G>C | |
9 | g.136673761C>T | CA467736191 | AGPAT2 | c.828G>A (p.Pro276=) c.732G>A (p.Pro244=) n.756G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673762G>A | CA5342802 | AGPAT2 | c.827C>T (p.Pro276Leu) c.731C>T (p.Pro244Leu) n.755C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673762G>C | CA375576080 | AGPAT2 | c.827C>G (p.Pro276Arg) c.731C>G (p.Pro244Arg) n.755C>G | |
9 | g.136673762G>T | CA375576082 | AGPAT2 | c.827C>A (p.Pro276Gln) c.731C>A (p.Pro244Gln) n.755C>A | gnomAD v4 |
9 | g.136673763G>A | CA375576086 | AGPAT2 | c.826C>T (p.Pro276Ser) c.730C>T (p.Pro244Ser) n.754C>T | gnomAD v4 |
9 | g.136673763G>C | CA375576087 | AGPAT2 | c.826C>G (p.Pro276Ala) c.730C>G (p.Pro244Ala) n.754C>G | gnomAD v4 |
9 | g.136673763G>T | CA375576090 | AGPAT2 | c.826C>A (p.Pro276Thr) c.730C>A (p.Pro244Thr) n.754C>A | gnomAD v4 |
9 | g.136673764_136673774dup | CA2579519876 | AGPAT2 | c.816_826dup (p.Pro276LeufsTer15) c.720_730dup (p.Pro244LeufsTer15) n.744_754dup | gnomAD v4 |
9 | g.136673764C>A | CA375576093 | AGPAT2 | c.825G>T (p.Gln275His) c.729G>T (p.Gln243His) n.753G>T | gnomAD v4 |
9 | g.136673764C>G | CA375576094 | AGPAT2 | c.825G>C (p.Gln275His) c.729G>C (p.Gln243His) n.753G>C | |
9 | g.136673764C>T | CA467736208 | AGPAT2 | c.825G>A (p.Gln275=) c.729G>A (p.Gln243=) n.753G>A | gnomAD v4 |
9 | g.136673765T>A | CA375576100 | AGPAT2 | c.824A>T (p.Gln275Leu) c.728A>T (p.Gln243Leu) n.752A>T | |
9 | g.136673765T>C | CA375576097 | AGPAT2 | c.824A>G (p.Gln275Arg) c.728A>G (p.Gln243Arg) n.752A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673765T>G | CA375576098 | AGPAT2 | c.824A>C (p.Gln275Pro) c.728A>C (p.Gln243Pro) n.752A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673766G>A | CA375576103 | AGPAT2 | c.823C>T (p.Gln275Ter) c.727C>T (p.Gln243Ter) n.751C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673766G>C | CA375576104 | AGPAT2 | c.823C>G (p.Gln275Glu) c.727C>G (p.Gln243Glu) n.751C>G | |
9 | g.136673766G>T | CA375576105 | AGPAT2 | c.823C>A (p.Gln275Lys) c.727C>A (p.Gln243Lys) n.751C>A | gnomAD v4 |
9 | g.136673767C>A | CA467736227 | AGPAT2 | c.822G>T (p.Val274=) c.726G>T (p.Val242=) n.750G>T | gnomAD v4 |
9 | g.136673767C>G | CA467736220 | AGPAT2 | c.822G>C (p.Val274=) c.726G>C (p.Val242=) n.750G>C | |
9 | g.136673767C>T | CA467736224 | AGPAT2 | c.822G>A (p.Val274=) c.726G>A (p.Val242=) n.750G>A | gnomAD v4 |
9 | g.136673768A>C | CA375576108 | AGPAT2 | c.821T>G (p.Val274Gly) c.725T>G (p.Val242Gly) n.749T>G | |
9 | g.136673768A>G | CA375576110 | AGPAT2 | c.821T>C (p.Val274Ala) c.725T>C (p.Val242Ala) n.749T>C | gnomAD v4 |
9 | g.136673768A>T | CA375576111 | AGPAT2 | c.821T>A (p.Val274Glu) c.725T>A (p.Val242Glu) n.749T>A | |
9 | g.136673769C>A | CA375576114 | AGPAT2 | c.820G>T (p.Val274Leu) c.724G>T (p.Val242Leu) n.748G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673769C>G | CA375576115 | AGPAT2 | c.820G>C (p.Val274Leu) c.724G>C (p.Val242Leu) n.748G>C | gnomAD v4 |
9 | g.136673769C>T | CA5342803 | AGPAT2 | c.820G>A (p.Val274Met) c.724G>A (p.Val242Met) n.748G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673770G>A | CA5342804 | AGPAT2 | c.819C>T (p.Gly273=) c.723C>T (p.Gly241=) n.747C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673770G>C | CA467736241 | AGPAT2 | c.819C>G (p.Gly273=) c.723C>G (p.Gly241=) n.747C>G | |
9 | g.136673770G>T | CA467736240 | AGPAT2 | c.819C>A (p.Gly273=) c.723C>A (p.Gly241=) n.747C>A | gnomAD v4 |
9 | g.136673771_136673804del | CA2692653747 | AGPAT2 | c.786_819del (p.Pro263CysfsTer13) c.690_723del (p.Pro231CysfsTer13) n.714_747del | gnomAD v4 |
9 | g.136673771C>A | CA375576118 | AGPAT2 | c.818G>T (p.Gly273Val) c.722G>T (p.Gly241Val) n.746G>T | gnomAD v4 |
9 | g.136673771C>G | CA5342805 | AGPAT2 | c.818G>C (p.Gly273Ala) c.722G>C (p.Gly241Ala) n.746G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673771C>T | CA375576121 | AGPAT2 | c.818G>A (p.Gly273Asp) c.722G>A (p.Gly241Asp) n.746G>A | gnomAD v4 |
9 | g.136673772_136673779dup | CA2692653748 | AGPAT2 | c.811_818dup (p.Val274GlyfsTer16) c.715_722dup (p.Val242GlyfsTer16) n.739_746dup | gnomAD v4 |
9 | g.136673772C>A | CA375576124 | AGPAT2 | c.817G>T (p.Gly273Cys) c.721G>T (p.Gly241Cys) n.745G>T | |
9 | g.136673772C>G | CA375576127 | AGPAT2 | c.817G>C (p.Gly273Arg) c.721G>C (p.Gly241Arg) n.745G>C | |
9 | g.136673772C>T | CA375576125 | AGPAT2 | c.817G>A (p.Gly273Ser) c.721G>A (p.Gly241Ser) n.745G>A | dbSNP gnomAD v4 |
9 | g.136673773A>C | CA467736254 | AGPAT2 | c.816T>G (p.Ser272=) c.720T>G (p.Ser240=) n.744T>G | |
9 | g.136673773A>G | CA467736255 | AGPAT2 | c.816T>C (p.Ser272=) c.720T>C (p.Ser240=) n.744T>C | gnomAD v4 |
9 | g.136673773A>T | CA467736253 | AGPAT2 | c.816T>A (p.Ser272=) c.720T>A (p.Ser240=) n.744T>A | |
9 | g.136673774G>A | CA375576128 | AGPAT2 | c.815C>T (p.Ser272Phe) c.719C>T (p.Ser240Phe) n.743C>T | |
9 | g.136673774G>C | CA201623549 | AGPAT2 | c.815C>G (p.Ser272Cys) c.719C>G (p.Ser240Cys) n.743C>G | dbSNP gnomAD v4 |
9 | g.136673774G>T | CA375576131 | AGPAT2 | c.815C>A (p.Ser272Tyr) c.719C>A (p.Ser240Tyr) n.743C>A | gnomAD v4 |
9 | g.136673775A>C | CA375576134 | AGPAT2 | c.814T>G (p.Ser272Ala) c.718T>G (p.Ser240Ala) n.742T>G | |
9 | g.136673775A>G | CA375576136 | AGPAT2 | c.814T>C (p.Ser272Pro) c.718T>C (p.Ser240Pro) n.742T>C | gnomAD v4 |
9 | g.136673775A>T | CA375576137 | AGPAT2 | c.814T>A (p.Ser272Thr) c.718T>A (p.Ser240Thr) n.742T>A | |
9 | g.136673776C>A | CA5342806 | AGPAT2 | c.813G>T (p.Gly271=) c.717G>T (p.Gly239=) n.741G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673776C>G | CA467736906 | AGPAT2 | c.813G>C (p.Gly271=) c.717G>C (p.Gly239=) n.741G>C | |
9 | g.136673776C>T | CA201626747 | AGPAT2 | c.813G>A (p.Gly271=) c.717G>A (p.Gly239=) n.741G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673777C>A | CA375577056 | AGPAT2 | c.812G>T (p.Gly271Val) c.716G>T (p.Gly239Val) n.740G>T | gnomAD v4 |
9 | g.136673777C>G | CA375577058 | AGPAT2 | c.812G>C (p.Gly271Ala) c.716G>C (p.Gly239Ala) n.740G>C | |
9 | g.136673777C>T | CA375577060 | AGPAT2 | c.812G>A (p.Gly271Glu) c.716G>A (p.Gly239Glu) n.740G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673778C>A | CA375577062 | AGPAT2 | c.811G>T (p.Gly271Trp) c.715G>T (p.Gly239Trp) n.739G>T | |
9 | g.136673778C>G | CA375577064 | AGPAT2 | c.811G>C (p.Gly271Arg) c.715G>C (p.Gly239Arg) n.739G>C | |
9 | g.136673778C>T | CA375577066 | AGPAT2 | c.811G>A (p.Gly271Arg) c.715G>A (p.Gly239Arg) n.739G>A | gnomAD v4 |
9 | g.136673779C>A | CA467736922 | AGPAT2 | c.810G>T (p.Ala270=) c.714G>T (p.Ala238=) n.738G>T | gnomAD v4 |
9 | g.136673779C>G | CA467736924 | AGPAT2 | c.810G>C (p.Ala270=) c.714G>C (p.Ala238=) n.738G>C | |
9 | g.136673779C>T | CA5342807 | AGPAT2 | c.810G>A (p.Ala270=) c.714G>A (p.Ala238=) n.738G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673780G>A | CA5342808 | AGPAT2 | c.809C>T (p.Ala270Val) c.713C>T (p.Ala238Val) n.737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673780G>C | CA375577068 | AGPAT2 | c.809C>G (p.Ala270Gly) c.713C>G (p.Ala238Gly) n.737C>G | |
9 | g.136673780G>T | CA375577069 | AGPAT2 | c.809C>A (p.Ala270Glu) c.713C>A (p.Ala238Glu) n.737C>A | |
9 | g.136673781C>A | CA375577071 | AGPAT2 | c.808G>T (p.Ala270Ser) c.712G>T (p.Ala238Ser) n.736G>T | gnomAD v4 |
9 | g.136673781C>G | CA375577072 | AGPAT2 | c.808G>C (p.Ala270Pro) c.712G>C (p.Ala238Pro) n.736G>C | |
9 | g.136673781C>T | CA375577073 | AGPAT2 | c.808G>A (p.Ala270Thr) c.712G>A (p.Ala238Thr) n.736G>A | dbSNP gnomAD v4 |
9 | g.136673782A>C | CA467736942 | AGPAT2 | c.807T>G (p.Thr269=) c.711T>G (p.Thr237=) n.735T>G | |
9 | g.136673782A>G | CA467736944 | AGPAT2 | c.807T>C (p.Thr269=) c.711T>C (p.Thr237=) n.735T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673782A>T | CA467736946 | AGPAT2 | c.807T>A (p.Thr269=) c.711T>A (p.Thr237=) n.735T>A | |
9 | g.136673783G>A | CA375577074 | AGPAT2 | c.806C>T (p.Thr269Ile) c.710C>T (p.Thr237Ile) n.734C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673783G>C | CA375577076 | AGPAT2 | c.806C>G (p.Thr269Ser) c.710C>G (p.Thr237Ser) n.734C>G | |
9 | g.136673783G>T | CA375577077 | AGPAT2 | c.806C>A (p.Thr269Asn) c.710C>A (p.Thr237Asn) n.734C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673784T>A | CA375577079 | AGPAT2 | c.805A>T (p.Thr269Ser) c.709A>T (p.Thr237Ser) n.733A>T | |
9 | g.136673784T>C | CA375577081 | AGPAT2 | c.805A>G (p.Thr269Ala) c.709A>G (p.Thr237Ala) n.733A>G | |
9 | g.136673784T>G | CA375577083 | AGPAT2 | c.805A>C (p.Thr269Pro) c.709A>C (p.Thr237Pro) n.733A>C | |
9 | g.136673787_136673800del | CA2692653749 | AGPAT2 | c.792_805del (p.Gln264HisfsTer?) c.696_709del (p.Gln232HisfsTer?) n.720_733del | gnomAD v4 |
9 | g.136673785G>A | CA467736958 | AGPAT2 | c.804C>T (p.Ala268=) c.708C>T (p.Ala236=) n.732C>T | |
9 | g.136673785G>C | CA467736959 | AGPAT2 | c.804C>G (p.Ala268=) c.708C>G (p.Ala236=) n.732C>G | |
9 | g.136673785G>T | CA467736960 | AGPAT2 | c.804C>A (p.Ala268=) c.708C>A (p.Ala236=) n.732C>A | |
9 | g.136673786G>A | CA5342809 | AGPAT2 | c.803C>T (p.Ala268Val) c.707C>T (p.Ala236Val) n.731C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673786G>C | CA375577087 | AGPAT2 | c.803C>G (p.Ala268Gly) c.707C>G (p.Ala236Gly) n.731C>G | |
9 | g.136673786G>T | CA375577085 | AGPAT2 | c.803C>A (p.Ala268Asp) c.707C>A (p.Ala236Asp) n.731C>A | gnomAD v4 |
9 | g.136673787C>A | CA375577090 | AGPAT2 | c.802G>T (p.Ala268Ser) c.706G>T (p.Ala236Ser) n.730G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673787C>G | CA375577093 | AGPAT2 | c.802G>C (p.Ala268Pro) c.706G>C (p.Ala236Pro) n.730G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673787C>T | CA375577092 | AGPAT2 | c.802G>A (p.Ala268Thr) c.706G>A (p.Ala236Thr) n.730G>A | gnomAD v4 COSMIC |
9 | g.136673790del | CA2692653750 | AGPAT2 | c.802del (p.Ala268ProfsTer19) c.706del (p.Ala236ProfsTer19) n.730del | gnomAD v4 |
9 | g.136673788C>A | CA467736962 | AGPAT2 | c.801G>T (p.Gly267=) c.705G>T (p.Gly235=) n.729G>T | gnomAD v4 |
9 | g.136673788C>G | CA467736963 | AGPAT2 | c.801G>C (p.Gly267=) c.705G>C (p.Gly235=) n.729G>C | |
9 | g.136673788C>T | CA5342810 | AGPAT2 | c.801G>A (p.Gly267=) c.705G>A (p.Gly235=) n.729G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673789C>A | CA375577098 | AGPAT2 | c.800G>T (p.Gly267Val) c.704G>T (p.Gly235Val) n.728G>T | |
9 | g.136673789C>G | CA375577096 | AGPAT2 | c.800G>C (p.Gly267Ala) c.704G>C (p.Gly235Ala) n.728G>C | |
9 | g.136673789C>T | CA375577100 | AGPAT2 | c.800G>A (p.Gly267Glu) c.704G>A (p.Gly235Glu) n.728G>A | gnomAD v4 |
9 | g.136673789_136673792del | CA591367746 | AGPAT2 | c.797_800del (p.Asn266ArgfsTer20) c.701_704del (p.Asn234ArgfsTer20) n.725_728del | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673790C>A | CA375577103 | AGPAT2 | c.799G>T (p.Gly267Trp) c.703G>T (p.Gly235Trp) n.727G>T | gnomAD v4 |
9 | g.136673790C>G | CA375577104 | AGPAT2 | c.799G>C (p.Gly267Arg) c.703G>C (p.Gly235Arg) n.727G>C | dbSNP |
9 | g.136673790C>T | CA5342811 | AGPAT2 | c.799G>A (p.Gly267Arg) c.703G>A (p.Gly235Arg) n.727G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673791G>A | CA5342812 | AGPAT2 | c.798C>T (p.Asn266=) c.702C>T (p.Asn234=) n.726C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673791G>C | CA375577108 | AGPAT2 | c.798C>G (p.Asn266Lys) c.702C>G (p.Asn234Lys) n.726C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673791G>T | CA375577111 | AGPAT2 | c.798C>A (p.Asn266Lys) c.702C>A (p.Asn234Lys) n.726C>A | |
9 | g.136673792T>A | CA375577113 | AGPAT2 | c.797A>T (p.Asn266Ile) c.701A>T (p.Asn234Ile) n.725A>T | |
9 | g.136673792T>C | CA375577114 | AGPAT2 | c.797A>G (p.Asn266Ser) c.701A>G (p.Asn234Ser) n.725A>G | |
9 | g.136673792T>G | CA375577115 | AGPAT2 | c.797A>C (p.Asn266Thr) c.701A>C (p.Asn234Thr) n.725A>C | dbSNP gnomAD v4 |