Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67940121_67940123del | CA623122337 | LCAT | c.1107_1109del (p.Asp370del) c.156-46_156-44del c.845_847del (n.845_847del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940121T>A | CA396375673 | LCAT | c.1106A>T (p.Asp369Val) c.156-47A>T c.844A>T (n.844A>T) | |
16 | g.67940121T>C | CA396375674 | LCAT | c.1106A>G (p.Asp369Gly) c.156-47A>G c.844A>G (n.844A>G) | gnomAD v4 |
16 | g.67940121T>G | CA396375675 | LCAT | c.1106A>C (p.Asp369Ala) c.156-47A>C c.844A>C (n.844A>C) | |
16 | g.67940121_67940124delinsTCAC | CA2229563218 | LCAT | c.1103_1106delinsGTGA (p.Gly368=) c.156-50_156-47delinsGTGA c.841_844delinsGTGA (n.841_844delinsGTGA) | |
16 | g.67940122C>A | CA396375676 | LCAT | c.1105G>T (p.Asp369Tyr) c.156-48G>T c.843G>T (n.843G>T) | |
16 | g.67940122C>G | CA396375677 | LCAT | c.1105G>C (p.Asp369His) c.156-48G>C c.843G>C (n.843G>C) | |
16 | g.67940122C>T | CA396375678 | LCAT | c.1105G>A (p.Asp369Asn) c.156-48G>A c.843G>A (n.843G>A) | gnomAD v4 |
16 | g.67940124_67940126del | CA8120891 | LCAT | c.1103_1105del (p.Gly368del) c.156-50_156-48del c.841_843del (n.841_843del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940123A>C | CA496383877 | LCAT | c.1104T>G (p.Gly368=) c.156-49T>G c.842T>G (n.842T>G) | |
16 | g.67940123A>G | CA496383876 | LCAT | c.1104T>C (p.Gly368=) c.156-49T>C c.842T>C (n.842T>C) | dbSNP gnomAD v4 |
16 | g.67940123A>T | CA496383875 | LCAT | c.1104T>A (p.Gly368=) c.156-49T>A c.842T>A (n.842T>A) | |
16 | g.67940124C>A | CA8120892 | LCAT | c.1103G>T (p.Gly368Val) c.156-50G>T c.841G>T (n.841G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940124C= | CA2229563219 | LCAT | c.1103G= (p.Gly368=) c.156-50G= c.841G= (n.841G=) | |
16 | g.67940124C>G | CA396375679 | LCAT | c.1103G>C (p.Gly368Ala) c.156-50G>C c.841G>C (n.841G>C) | |
16 | g.67940124C>T | CA396375680 | LCAT | c.1103G>A (p.Gly368Asp) c.156-50G>A c.841G>A (n.841G>A) | |
16 | g.67940125C>A | CA396375681 | LCAT | c.1102G>T (p.Gly368Cys) c.156-51G>T c.840G>T (n.840G>T) | |
16 | g.67940125C= | CA2229563220 | LCAT | c.1102G= (p.Gly368=) c.156-51G= c.840G= (n.840G=) | |
16 | g.67940125C>G | CA396375682 | LCAT | c.1102G>C (p.Gly368Arg) c.156-51G>C c.840G>C (n.840G>C) | |
16 | g.67940125C>T | CA8120893 | LCAT | c.1102G>A (p.Gly368Ser) c.156-51G>A c.840G>A (n.840G>A) | dbSNP ExAC gnomAD v4 |
16 | g.67940126A= | CA2229563221 | LCAT | c.1101T= (p.Asp367=) c.156-52T= c.839T= (n.839T=) | |
16 | g.67940126A>C | CA396375683 | LCAT | c.1101T>G (p.Asp367Glu) c.156-52T>G c.839T>G (n.839T>G) | |
16 | g.67940126A>G | CA8120894 | LCAT | c.1101T>C (p.Asp367=) c.156-52T>C c.839T>C (n.839T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940126A>T | CA396375684 | LCAT | c.1101T>A (p.Asp367Glu) c.156-52T>A c.839T>A (n.839T>A) | |
16 | g.67940127T>A | CA396375685 | LCAT | c.1100A>T (p.Asp367Val) c.156-53A>T c.838A>T (n.838A>T) | |
16 | g.67940127T>C | CA396375686 | LCAT | c.1100A>G (p.Asp367Gly) c.156-53A>G c.838A>G (n.838A>G) | |
16 | g.67940127T>G | CA396375687 | LCAT | c.1100A>C (p.Asp367Ala) c.156-53A>C c.838A>C (n.838A>C) | |
16 | g.67940128C>A | CA396375688 | LCAT | c.1099G>T (p.Asp367Tyr) c.156-54G>T c.837G>T (n.837G>T) | |
16 | g.67940128C>G | CA396375689 | LCAT | c.1099G>C (p.Asp367His) c.156-54G>C c.837G>C (n.837G>C) | COSMIC |
16 | g.67940128C>T | CA396375690 | LCAT | c.1099G>A (p.Asp367Asn) c.156-54G>A c.837G>A (n.837G>A) | gnomAD v4 |
16 | g.67940129C>A | CA396375691 | LCAT | c.1098G>T (p.Glu366Asp) c.156-55G>T c.836G>T (n.836G>T) | |
16 | g.67940129C= | CA2229563222 | LCAT | c.1098G= (p.Glu366=) c.156-55G= c.836G= (n.836G=) | |
16 | g.67940129C>G | CA396375692 | LCAT | c.1098G>C (p.Glu366Asp) c.156-55G>C c.836G>C (n.836G>C) | |
16 | g.67940129C>T | CA496383884 | LCAT | c.1098G>A (p.Glu366=) c.156-55G>A c.836G>A (n.836G>A) | ClinVar dbSNP |
16 | g.67940130T>A | CA396375693 | LCAT | c.1097A>T (p.Glu366Val) c.156-56A>T c.835A>T (n.835A>T) | |
16 | g.67940130T>C | CA396375694 | LCAT | c.1097A>G (p.Glu366Gly) c.156-56A>G c.835A>G (n.835A>G) | gnomAD v4 |
16 | g.67940130T>G | CA396375695 | LCAT | c.1097A>C (p.Glu366Ala) c.156-56A>C c.835A>C (n.835A>C) | |
16 | g.67940131C>A | CA396375697 | LCAT | c.1096G>T (p.Glu366Ter) c.156-57G>T c.834G>T (n.834G>T) | |
16 | g.67940131C= | CA2229563223 | LCAT | c.1096G= (p.Glu366=) c.156-57G= c.834G= (n.834G=) | |
16 | g.67940131C>G | CA396375696 | LCAT | c.1096G>C (p.Glu366Gln) c.156-57G>C c.834G>C (n.834G>C) | |
16 | g.67940131C>T | CA8120895 | LCAT | c.1096G>A (p.Glu366Lys) c.156-57G>A c.834G>A (n.834G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940132A= | CA2229563224 | LCAT | c.1095T= (p.Tyr365=) c.156-58T= c.833T= (n.833T=) | |
16 | g.67940132A>C | CA396375698 | LCAT | c.1095T>G (p.Tyr365Ter) c.156-58T>G c.833T>G (n.833T>G) | |
16 | g.67940132A>G | CA496383888 | LCAT | c.1095T>C (p.Tyr365=) c.156-58T>C c.833T>C (n.833T>C) | dbSNP |
16 | g.67940132A>T | CA396375699 | LCAT | c.1095T>A (p.Tyr365Ter) c.156-58T>A c.833T>A (n.833T>A) | |
16 | g.67940133del | CA2576033439 | LCAT | c.1094del (p.Tyr365LeufsTer?) c.156-59del c.832del (n.832del) | |
16 | g.67940133T>A | CA396375700 | LCAT | c.1094A>T (p.Tyr365Phe) c.156-59A>T c.832A>T (n.832A>T) | |
16 | g.67940133T>C | CA396375701 | LCAT | c.1094A>G (p.Tyr365Cys) c.156-59A>G c.832A>G (n.832A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940133T>G | CA396375702 | LCAT | c.1094A>C (p.Tyr365Ser) c.156-59A>C c.832A>C (n.832A>C) | |
16 | g.67940133T= | CA2229563225 | LCAT | c.1094A= (p.Tyr365=) c.156-59A= c.832A= (n.832A=) | |
16 | g.67940134A= | CA2229563226 | LCAT | c.1093T= (p.Tyr365=) c.156-60T= c.831T= (n.831T=) | |
16 | g.67940134A>C | CA396375703 | LCAT | c.1093T>G (p.Tyr365Asp) c.156-60T>G c.831T>G (n.831T>G) | |
16 | g.67940134A>G | CA8120896 | LCAT | c.1093T>C (p.Tyr365His) c.156-60T>C c.831T>C (n.831T>C) | dbSNP ExAC gnomAD v4 |
16 | g.67940134A>T | CA396375704 | LCAT | c.1093T>A (p.Tyr365Asn) c.156-60T>A c.831T>A (n.831T>A) | |
16 | g.67940135G>A | CA496383891 | LCAT | c.1092C>T (p.Leu364=) c.156-61C>T c.830C>T (n.830C>T) | |
16 | g.67940135G>C | CA496383892 | LCAT | c.1092C>G (p.Leu364=) c.156-61C>G c.830C>G (n.830C>G) | |
16 | g.67940135G>T | CA496383893 | LCAT | c.1092C>A (p.Leu364=) c.156-61C>A c.830C>A (n.830C>A) | |
16 | g.67940136A>C | CA396375705 | LCAT | c.1091T>G (p.Leu364Arg) c.156-62T>G c.829T>G (n.829T>G) | |
16 | g.67940136A>G | CA396375706 | LCAT | c.1091T>C (p.Leu364Pro) c.156-62T>C c.829T>C (n.829T>C) | |
16 | g.67940136A>T | CA396375707 | LCAT | c.1091T>A (p.Leu364His) c.156-62T>A c.829T>A (n.829T>A) | |
16 | g.67940137G>A | CA396375709 | LCAT | c.1090C>T (p.Leu364Phe) c.156-63C>T c.828C>T (n.828C>T) | gnomAD v4 |
16 | g.67940137G>C | CA396375710 | LCAT | c.1090C>G (p.Leu364Val) c.156-63C>G c.828C>G (n.828C>G) | |
16 | g.67940137G>T | CA396375708 | LCAT | c.1090C>A (p.Leu364Ile) c.156-63C>A c.828C>A (n.828C>A) | |
16 | g.67940138C>A | CA496383896 | LCAT | c.1089G>T (p.Val363=) c.156-64G>T c.827G>T (n.827G>T) | |
16 | g.67940138C>G | CA496383897 | LCAT | c.1089G>C (p.Val363=) c.156-64G>C c.827G>C (n.827G>C) | gnomAD v4 |
16 | g.67940138C>T | CA496383898 | LCAT | c.1089G>A (p.Val363=) c.156-64G>A c.827G>A (n.827G>A) | |
16 | g.67940139A>C | CA396375711 | LCAT | c.1088T>G (p.Val363Gly) c.156-65T>G c.826T>G (n.826T>G) | |
16 | g.67940139A>G | CA396375712 | LCAT | c.1088T>C (p.Val363Ala) c.156-65T>C c.826T>C (n.826T>C) | |
16 | g.67940139A>T | CA396375713 | LCAT | c.1088T>A (p.Val363Glu) c.156-65T>A c.826T>A (n.826T>A) | ClinVar |
16 | g.67940140C>A | CA396375714 | LCAT | c.1087G>T (p.Val363Leu) c.156-66G>T c.825G>T (n.825G>T) | |
16 | g.67940140C>G | CA396375715 | LCAT | c.1087G>C (p.Val363Leu) c.156-66G>C c.825G>C (n.825G>C) | |
16 | g.67940140C>T | CA396375716 | LCAT | c.1087G>A (p.Val363Met) c.156-66G>A c.825G>A (n.825G>A) | |
16 | g.67940141A= | CA2229563227 | LCAT | c.1086T= (p.Gly362=) c.156-67T= c.824T= (n.824T=) | |
16 | g.67940141A>C | CA496383902 | LCAT | c.1086T>G (p.Gly362=) c.156-67T>G c.824T>G (n.824T>G) | dbSNP |
16 | g.67940141A>G | CA496383903 | LCAT | c.1086T>C (p.Gly362=) c.156-67T>C c.824T>C (n.824T>C) | |
16 | g.67940141A>T | CA496383904 | LCAT | c.1086T>A (p.Gly362=) c.156-67T>A c.824T>A (n.824T>A) | |
16 | g.67940142C>A | CA396375717 | LCAT | c.1085G>T (p.Gly362Val) c.156-68G>T c.823G>T (n.823G>T) | dbSNP |
16 | g.67940142C= | CA2229563228 | LCAT | c.1085G= (p.Gly362=) c.156-68G= c.823G= (n.823G=) | |
16 | g.67940142C>G | CA8120897 | LCAT | c.1085G>C (p.Gly362Ala) c.156-68G>C c.823G>C (n.823G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940142C>T | CA396375718 | LCAT | c.1085G>A (p.Gly362Asp) c.156-68G>A c.823G>A (n.823G>A) | ClinVar dbSNP |
16 | g.67940143C>A | CA396375719 | LCAT | c.1084G>T (p.Gly362Cys) c.156-69G>T c.822G>T (n.822G>T) | |
16 | g.67940143C>G | CA396375720 | LCAT | c.1084G>C (p.Gly362Arg) c.156-69G>C c.822G>C (n.822G>C) | |
16 | g.67940143C>T | CA396375721 | LCAT | c.1084G>A (p.Gly362Ser) c.156-69G>A c.822G>A (n.822G>A) | ClinVar |
16 | g.67940144C>A | CA496383910 | LCAT | c.1083G>T (p.Val361=) c.156-70G>T c.821G>T (n.821G>T) | |
16 | g.67940144C= | CA2229563229 | LCAT | c.1083G= (p.Val361=) c.156-70G= c.821G= (n.821G=) | |
16 | g.67940144C>G | CA496383908 | LCAT | c.1083G>C (p.Val361=) c.156-70G>C c.821G>C (n.821G>C) | |
16 | g.67940144C>T | CA496383909 | LCAT | c.1083G>A (p.Val361=) c.156-70G>A c.821G>A (n.821G>A) | ClinVar dbSNP |
16 | g.67940145A>C | CA396375723 | LCAT | c.1082T>G (p.Val361Gly) c.156-71T>G c.820T>G (n.820T>G) | |
16 | g.67940145A>G | CA396375724 | LCAT | c.1082T>C (p.Val361Ala) c.156-71T>C c.820T>C (n.820T>C) | |
16 | g.67940145A>T | CA396375722 | LCAT | c.1082T>A (p.Val361Glu) c.156-71T>A c.820T>A (n.820T>A) | |
16 | g.67940146C>A | CA396375725 | LCAT | c.1081G>T (p.Val361Leu) c.156-72G>T c.819G>T (n.819G>T) | |
16 | g.67940146C>G | CA396375726 | LCAT | c.1081G>C (p.Val361Leu) c.156-72G>C c.819G>C (n.819G>C) | gnomAD v4 |
16 | g.67940146C>T | CA396375727 | LCAT | c.1081G>A (p.Val361Met) c.156-72G>A c.819G>A (n.819G>A) | gnomAD v4 |
16 | g.67940147A>C | CA496383914 | LCAT | c.1080T>G (p.Pro360=) c.156-73T>G c.818T>G (n.818T>G) | gnomAD v4 |
16 | g.67940147A>G | CA496383915 | LCAT | c.1080T>C (p.Pro360=) c.156-73T>C c.818T>C (n.818T>C) | gnomAD v4 |
16 | g.67940147A>T | CA496383916 | LCAT | c.1080T>A (p.Pro360=) c.156-73T>A c.818T>A (n.818T>A) | |
16 | g.67940148G>A | CA396375728 | LCAT | c.1079C>T (p.Pro360Leu) c.156-74C>T c.817C>T (n.817C>T) | |
16 | g.67940148G>C | CA396375729 | LCAT | c.1079C>G (p.Pro360Arg) c.156-74C>G c.817C>G (n.817C>G) | |
16 | g.67940148G>T | CA396375730 | LCAT | c.1079C>A (p.Pro360His) c.156-74C>A c.817C>A (n.817C>A) | |
16 | g.67940150del | CA2633850746 | LCAT | c.1079del (p.Pro360LeufsTer?) c.156-74del c.817del (n.817del) | gnomAD v4 |
16 | g.67940149G>A | CA396375732 | LCAT | c.1078C>T (p.Pro360Ser) c.156-75C>T c.816C>T (n.816C>T) | |
16 | g.67940149G>C | CA396375731 | LCAT | c.1078C>G (p.Pro360Ala) c.156-75C>G c.816C>G (n.816C>G) | |
16 | g.67940149G= | CA2229563230 | LCAT | c.1078C= (p.Pro360=) c.156-75C= c.816C= (n.816C=) | |
16 | g.67940149G>T | CA8120898 | LCAT | c.1078C>A (p.Pro360Thr) c.156-75C>A c.816C>A (n.816C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940150G>A | CA496383919 | LCAT | c.1077C>T (p.Asp359=) c.156-76C>T c.815C>T (n.815C>T) | ClinVar |
16 | g.67940150G>C | CA396375733 | LCAT | c.1077C>G (p.Asp359Glu) c.156-76C>G c.815C>G (n.815C>G) | |
16 | g.67940150G>T | CA396375734 | LCAT | c.1077C>A (p.Asp359Glu) c.156-76C>A c.815C>A (n.815C>A) | |
16 | g.67940151T>A | CA396375735 | LCAT | c.1076A>T (p.Asp359Val) c.156-77A>T c.814A>T (n.814A>T) | |
16 | g.67940151T>C | CA396375736 | LCAT | c.1076A>G (p.Asp359Gly) c.156-77A>G c.814A>G (n.814A>G) | |
16 | g.67940151T>G | CA396375737 | LCAT | c.1076A>C (p.Asp359Ala) c.156-77A>C c.814A>C (n.814A>C) | |
16 | g.67940152C>A | CA396375738 | LCAT | c.1075G>T (p.Asp359Tyr) c.156-78G>T c.813G>T (n.813G>T) | |
16 | g.67940152C>G | CA396375740 | LCAT | c.1075G>C (p.Asp359His) c.156-78G>C c.813G>C (n.813G>C) | |
16 | g.67940152C>T | CA396375739 | LCAT | c.1075G>A (p.Asp359Asn) c.156-78G>A c.813G>A (n.813G>A) | |
16 | g.67940153C>A | CA496383921 | LCAT | c.1074G>T (p.Thr358=) c.156-79G>T c.812G>T (n.812G>T) | |
16 | g.67940153C= | CA2229563231 | LCAT | c.1074G= (p.Thr358=) c.156-79G= c.812G= (n.812G=) | |
16 | g.67940153C>G | CA496383922 | LCAT | c.1074G>C (p.Thr358=) c.156-79G>C c.812G>C (n.812G>C) | gnomAD v4 |
16 | g.67940153C>T | CA8120899 | LCAT | c.1074G>A (p.Thr358=) c.156-79G>A c.812G>A (n.812G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940154G>A | CA8120900 | LCAT | c.1073C>T (p.Thr358Met) c.156-80C>T c.811C>T (n.811C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940154G>C | CA396375741 | LCAT | c.1073C>G (p.Thr358Arg) c.156-80C>G c.811C>G (n.811C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940154G= | CA2229563232 | LCAT | c.1073C= (p.Thr358=) c.156-80C= c.811C= (n.811C=) | |
16 | g.67940154G>T | CA396375742 | LCAT | c.1073C>A (p.Thr358Lys) c.156-80C>A c.811C>A (n.811C>A) | |
16 | g.67940155T>A | CA396375743 | LCAT | c.1072A>T (p.Thr358Ser) c.156-81A>T c.810A>T (n.810A>T) | |
16 | g.67940155T>C | CA396375744 | LCAT | c.1072A>G (p.Thr358Ala) c.156-81A>G c.810A>G (n.810A>G) | dbSNP |
16 | g.67940155T>G | CA396375745 | LCAT | c.1072A>C (p.Thr358Pro) c.156-81A>C c.810A>C (n.810A>C) | |
16 | g.67940155T= | CA2229563233 | LCAT | c.1072A= (p.Thr358=) c.156-81A= c.810A= (n.810A=) | |
16 | g.67940156G>A | CA283160616 | LCAT | c.1071C>T (p.Tyr357=) c.156-82C>T c.809C>T (n.809C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940156G>C | CA396375746 | LCAT | c.1071C>G (p.Tyr357Ter) c.156-82C>G c.809C>G (n.809C>G) | |
16 | g.67940156G= | CA2229563234 | LCAT | c.1071C= (p.Tyr357=) c.156-82C= c.809C= (n.809C=) | |
16 | g.67940156G>T | CA396375747 | LCAT | c.1071C>A (p.Tyr357Ter) c.156-82C>A c.809C>A (n.809C>A) | |
16 | g.67940157T>A | CA396375748 | LCAT | c.1070A>T (p.Tyr357Phe) c.156-83A>T c.808A>T (n.808A>T) | gnomAD v4 |
16 | g.67940157T>C | CA396375749 | LCAT | c.1070A>G (p.Tyr357Cys) c.156-83A>G c.808A>G (n.808A>G) | |
16 | g.67940157T>G | CA396375750 | LCAT | c.1070A>C (p.Tyr357Ser) c.156-83A>C c.808A>C (n.808A>C) | |
16 | g.67940158A>C | CA396375751 | LCAT | c.1069T>G (p.Tyr357Asp) c.156-84T>G c.807T>G (n.807T>G) | |
16 | g.67940158A>G | CA396375752 | LCAT | c.1069T>C (p.Tyr357His) c.156-84T>C c.807T>C (n.807T>C) | |
16 | g.67940158A>T | CA396375753 | LCAT | c.1069T>A (p.Tyr357Asn) c.156-84T>A c.807T>A (n.807T>A) | |
16 | g.67940159G>A | CA283160630 | LCAT | c.1068C>T (p.Pro356=) c.156-85C>T c.806C>T (n.806C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.67940159G>C | CA496383930 | LCAT | c.1068C>G (p.Pro356=) c.156-85C>G c.806C>G (n.806C>G) | |
16 | g.67940159G= | CA2229563235 | LCAT | c.1068C= (p.Pro356=) c.156-85C= c.806C= (n.806C=) | |
16 | g.67940159G>T | CA496383931 | LCAT | c.1068C>A (p.Pro356=) c.156-85C>A c.806C>A (n.806C>A) | |
16 | g.67940160G>A | CA396375754 | LCAT | c.1067C>T (p.Pro356Leu) c.156-86C>T c.805C>T (n.805C>T) | dbSNP |
16 | g.67940160G>C | CA396375755 | LCAT | c.1067C>G (p.Pro356Arg) c.156-86C>G c.805C>G (n.805C>G) | |
16 | g.67940160G= | CA2229563236 | LCAT | c.1067C= (p.Pro356=) c.156-86C= c.805C= (n.805C=) | |
16 | g.67940160G>T | CA396375756 | LCAT | c.1067C>A (p.Pro356His) c.156-86C>A c.805C>A (n.805C>A) | |
16 | g.67940161G>A | CA8120901 | LCAT | c.1066C>T (p.Pro356Ser) c.156-87C>T c.804C>T (n.804C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940161G>C | CA396375757 | LCAT | c.1066C>G (p.Pro356Ala) c.156-87C>G c.804C>G (n.804C>G) | |
16 | g.67940161G= | CA2229563237 | LCAT | c.1066C= (p.Pro356=) c.156-87C= c.804C= (n.804C=) | |
16 | g.67940161G>T | CA396375758 | LCAT | c.1066C>A (p.Pro356Thr) c.156-87C>A c.804C>A (n.804C>A) | |
16 | g.67940162G>A | CA496383933 | LCAT | c.1065C>T (p.Phe355=) c.156-88C>T c.803C>T (n.803C>T) | |
16 | g.67940162G>C | CA396375759 | LCAT | c.1065C>G (p.Phe355Leu) c.156-88C>G c.803C>G (n.803C>G) | |
16 | g.67940162G>T | CA396375760 | LCAT | c.1065C>A (p.Phe355Leu) c.156-88C>A c.803C>A (n.803C>A) | |
16 | g.67940163A= | CA2229563238 | LCAT | c.1064T= (p.Phe355=) c.156-89T= c.802T= (n.802T=) | |
16 | g.67940163A>C | CA396375761 | LCAT | c.1064T>G (p.Phe355Cys) c.156-89T>G c.802T>G (n.802T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940163A>G | CA396375762 | LCAT | c.1064T>C (p.Phe355Ser) c.156-89T>C c.802T>C (n.802T>C) | |
16 | g.67940163A>T | CA396375763 | LCAT | c.1064T>A (p.Phe355Tyr) c.156-89T>A c.802T>A (n.802T>A) | |
16 | g.67940164A>C | CA396375764 | LCAT | c.1063T>G (p.Phe355Val) c.156-90T>G c.801T>G (n.801T>G) | |
16 | g.67940164A>G | CA396375765 | LCAT | c.1063T>C (p.Phe355Leu) c.156-90T>C c.801T>C (n.801T>C) | |
16 | g.67940164A>T | CA396375766 | LCAT | c.1063T>A (p.Phe355Ile) c.156-90T>A c.801T>A (n.801T>A) | |
16 | g.67940165G>A | CA496383936 | LCAT | c.1062C>T (p.Gly354=) c.156-91C>T c.800C>T (n.800C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67940165G>C | CA496383938 | LCAT | c.1062C>G (p.Gly354=) c.156-91C>G c.800C>G (n.800C>G) | |
16 | g.67940165G= | CA2229563239 | LCAT | c.1062C= (p.Gly354=) c.156-91C= c.800C= (n.800C=) | |
16 | g.67940165G>T | CA496383939 | LCAT | c.1062C>A (p.Gly354=) c.156-91C>A c.800C>A (n.800C>A) | |
16 | g.67940166C>A | CA396375769 | LCAT | c.1061G>T (p.Gly354Val) c.156-92G>T c.799G>T (n.799G>T) | |
16 | g.67940166C>G | CA396375767 | LCAT | c.1061G>C (p.Gly354Ala) c.156-92G>C c.799G>C (n.799G>C) | |
16 | g.67940166C>T | CA396375768 | LCAT | c.1061G>A (p.Gly354Asp) c.156-92G>A c.799G>A (n.799G>A) | |
16 | g.67940167C>A | CA396375770 | LCAT | c.1060G>T (p.Gly354Cys) c.156-93G>T c.798G>T (n.798G>T) | |
16 | g.67940167C= | CA2229563240 | LCAT | c.1060G= (p.Gly354=) c.156-93G= c.798G= (n.798G=) | |
16 | g.67940167C>G | CA396375771 | LCAT | c.1060G>C (p.Gly354Arg) c.156-93G>C c.798G>C (n.798G>C) | |
16 | g.67940167C>T | CA8120902 | LCAT | c.1060G>A (p.Gly354Ser) c.156-93G>A c.798G>A (n.798G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940168G>A | CA496383943 | LCAT | c.1059C>T (p.His353=) c.156-94C>T c.797C>T (n.797C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940168G>C | CA396375772 | LCAT | c.1059C>G (p.His353Gln) c.156-94C>G c.797C>G (n.797C>G) | |
16 | g.67940168G= | CA2229563241 | LCAT | c.1059C= (p.His353=) c.156-94C= c.797C= (n.797C=) | |
16 | g.67940168G>T | CA396375773 | LCAT | c.1059C>A (p.His353Gln) c.156-94C>A c.797C>A (n.797C>A) | |
16 | g.67940169T>A | CA396375774 | LCAT | c.1058A>T (p.His353Leu) c.156-95A>T c.796A>T (n.796A>T) | |
16 | g.67940169T>C | CA283160657 | LCAT | c.1058A>G (p.His353Arg) c.156-95A>G c.796A>G (n.796A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940169T>G | CA396375775 | LCAT | c.1058A>C (p.His353Pro) c.156-95A>C c.796A>C (n.796A>C) | |
16 | g.67940169T= | CA2229563242 | LCAT | c.1058A= (p.His353=) c.156-95A= c.796A= (n.796A=) | |
16 | g.67940170G>A | CA396375776 | LCAT | c.1057C>T (p.His353Tyr) c.156-96C>T c.795C>T (n.795C>T) | |
16 | g.67940170G>C | CA396375777 | LCAT | c.1057C>G (p.His353Asp) c.156-96C>G c.795C>G (n.795C>G) | |
16 | g.67940170G>T | CA396375778 | LCAT | c.1057C>A (p.His353Asn) c.156-96C>A c.795C>A (n.795C>A) | |
16 | g.67940171G>A | CA496383947 | LCAT | c.1056C>T (p.Asp352=) c.156-97C>T c.794C>T (n.794C>T) | |
16 | g.67940171G>C | CA396375779 | LCAT | c.1056C>G (p.Asp352Glu) c.156-97C>G c.794C>G (n.794C>G) | |
16 | g.67940171G>T | CA396375780 | LCAT | c.1056C>A (p.Asp352Glu) c.156-97C>A c.794C>A (n.794C>A) | |
16 | g.67940172T>A | CA396375783 | LCAT | c.1055A>T (p.Asp352Val) c.156-98A>T c.793A>T (n.793A>T) | |
16 | g.67940172T>C | CA396375782 | LCAT | c.1055A>G (p.Asp352Gly) c.156-98A>G c.793A>G (n.793A>G) | |
16 | g.67940172T>G | CA396375781 | LCAT | c.1055A>C (p.Asp352Ala) c.156-98A>C c.793A>C (n.793A>C) | |
16 | g.67940173C>A | CA396375784 | LCAT | c.1054G>T (p.Asp352Tyr) c.156-99G>T c.792G>T (n.792G>T) | gnomAD v4 |
16 | g.67940173C= | CA2229563243 | LCAT | c.1054G= (p.Asp352=) c.156-99G= c.792G= (n.792G=) | |
16 | g.67940173C>G | CA283160668 | LCAT | c.1054G>C (p.Asp352His) c.156-99G>C c.792G>C (n.792G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940173C>T | CA8120903 | LCAT | c.1054G>A (p.Asp352Asn) c.156-99G>A c.792G>A (n.792G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940174G>A | CA8120904 | LCAT | c.1053C>T (p.Tyr351=) c.156-100C>T c.791C>T (n.791C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940174G>C | CA396375785 | LCAT | c.1053C>G (p.Tyr351Ter) c.156-100C>G c.791C>G (n.791C>G) | |
16 | g.67940174G= | CA2229563244 | LCAT | c.1053C= (p.Tyr351=) c.156-100C= c.791C= (n.791C=) | |
16 | g.67940174G>T | CA396375786 | LCAT | c.1053C>A (p.Tyr351Ter) c.156-100C>A c.791C>A (n.791C>A) | |
16 | g.67940175T>A | CA396375787 | LCAT | c.1052A>T (p.Tyr351Phe) c.156-101A>T c.790A>T (n.790A>T) | |
16 | g.67940175T>C | CA396375788 | LCAT | c.1052A>G (p.Tyr351Cys) c.156-101A>G c.790A>G (n.790A>G) | gnomAD v4 |
16 | g.67940175T>G | CA396375789 | LCAT | c.1052A>C (p.Tyr351Ser) c.156-101A>C c.790A>C (n.790A>C) | |
16 | g.67940176A>C | CA396375790 | LCAT | c.1051T>G (p.Tyr351Asp) c.156-102T>G c.789T>G (n.789T>G) | |
16 | g.67940176A>G | CA396375791 | LCAT | c.1051T>C (p.Tyr351His) c.156-102T>C c.789T>C (n.789T>C) | |
16 | g.67940176A>T | CA396375792 | LCAT | c.1051T>A (p.Tyr351Asn) c.156-102T>A c.789T>A (n.789T>A) | |
16 | g.67940177G>A | CA496383953 | LCAT | c.1050C>T (p.Ile350=) c.156-103C>T c.788C>T (n.788C>T) | |
16 | g.67940177G>C | CA396375793 | LCAT | c.1050C>G (p.Ile350Met) c.156-103C>G c.788C>G (n.788C>G) | |
16 | g.67940177G>T | CA496383954 | LCAT | c.1050C>A (p.Ile350=) c.156-103C>A c.788C>A (n.788C>A) | |
16 | g.67940178A>C | CA396375796 | LCAT | c.1049T>G (p.Ile350Ser) c.156-104T>G c.787T>G (n.787T>G) | |
16 | g.67940178A>G | CA396375795 | LCAT | c.1049T>C (p.Ile350Thr) c.156-104T>C c.787T>C (n.787T>C) | |
16 | g.67940178A>T | CA396375794 | LCAT | c.1049T>A (p.Ile350Asn) c.156-104T>A c.787T>A (n.787T>A) | |
16 | g.67940179T>A | CA396375797 | LCAT | c.1048A>T (p.Ile350Phe) c.156-105A>T c.786A>T (n.786A>T) | |
16 | g.67940179T>C | CA396375799 | LCAT | c.1048A>G (p.Ile350Val) c.156-105A>G c.786A>G (n.786A>G) | |
16 | g.67940179T>G | CA396375798 | LCAT | c.1048A>C (p.Ile350Leu) c.156-105A>C c.786A>C (n.786A>C) | |
16 | g.67940180G>A | CA496383955 | LCAT | c.1047C>T (p.Tyr349=) c.156-106C>T c.785C>T (n.785C>T) | gnomAD v4 |
16 | g.67940180G>C | CA396375800 | LCAT | c.1047C>G (p.Tyr349Ter) c.156-106C>G c.785C>G (n.785C>G) | |
16 | g.67940180G>T | CA396375801 | LCAT | c.1047C>A (p.Tyr349Ter) c.156-106C>A c.785C>A (n.785C>A) | |
16 | g.67940181T>A | CA396375802 | LCAT | c.1046A>T (p.Tyr349Phe) c.156-107A>T c.784A>T (n.784A>T) | |
16 | g.67940181T>C | CA396375803 | LCAT | c.1046A>G (p.Tyr349Cys) c.156-107A>G c.784A>G (n.784A>G) | |
16 | g.67940181T>G | CA396375804 | LCAT | c.1046A>C (p.Tyr349Ser) c.156-107A>C c.784A>C (n.784A>C) | |
16 | g.67940182A>C | CA396375805 | LCAT | c.1045T>G (p.Tyr349Asp) c.156-108T>G c.783T>G (n.783T>G) | |
16 | g.67940182A>G | CA396375806 | LCAT | c.1045T>C (p.Tyr349His) c.156-108T>C c.783T>C (n.783T>C) | |
16 | g.67940182A>T | CA396375807 | LCAT | c.1045T>A (p.Tyr349Asn) c.156-108T>A c.783T>A (n.783T>A) | |
16 | g.67940183G>A | CA496383959 | LCAT | c.1044C>T (p.Thr348=) c.156-109C>T c.782C>T (n.782C>T) | |
16 | g.67940183G>C | CA496383960 | LCAT | c.1044C>G (p.Thr348=) c.156-109C>G c.782C>G (n.782C>G) | gnomAD v4 |
16 | g.67940183G= | CA2229563245 | LCAT | c.1044C= (p.Thr348=) c.156-109C= c.782C= (n.782C=) | |
16 | g.67940183G>T | CA8120905 | LCAT | c.1044C>A (p.Thr348=) c.156-109C>A c.782C>A (n.782C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940184G>A | CA396375808 | LCAT | c.1043C>T (p.Thr348Ile) c.156-110C>T c.781C>T (n.781C>T) | gnomAD v4 |
16 | g.67940184G>C | CA396375809 | LCAT | c.1043C>G (p.Thr348Ser) c.156-110C>G c.781C>G (n.781C>G) | |
16 | g.67940184G>T | CA396375810 | LCAT | c.1043C>A (p.Thr348Asn) c.156-110C>A c.781C>A (n.781C>A) | |
16 | g.67940185T>A | CA396375813 | LCAT | c.1042A>T (p.Thr348Ser) c.156-111A>T c.780A>T (n.780A>T) | |
16 | g.67940185T>C | CA396375812 | LCAT | c.1042A>G (p.Thr348Ala) c.156-111A>G c.780A>G (n.780A>G) | gnomAD v4 |
16 | g.67940185T>G | CA396375811 | LCAT | c.1042A>C (p.Thr348Pro) c.156-111A>C c.780A>C (n.780A>C) | |
16 | g.67940186G>A | CA496383963 | LCAT | c.1041C>T (p.Arg347=) c.156-112C>T c.779C>T (n.779C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940186G>C | CA496383966 | LCAT | c.1041C>G (p.Arg347=) c.156-112C>G c.779C>G (n.779C>G) | |
16 | g.67940186G= | CA2229563246 | LCAT | c.1041C= (p.Arg347=) c.156-112C= c.779C= (n.779C=) | |
16 | g.67940186G>T | CA496383968 | LCAT | c.1041C>A (p.Arg347=) c.156-112C>A c.779C>A (n.779C>A) | |
16 | g.67940187C>A | CA396375814 | LCAT | c.1040G>T (p.Arg347Leu) c.156-113G>T c.778G>T (n.778G>T) | |
16 | g.67940187C= | CA2229563247 | LCAT | c.1040G= (p.Arg347=) c.156-113G= c.778G= (n.778G=) | |
16 | g.67940187C>G | CA396375815 | LCAT | c.1040G>C (p.Arg347Pro) c.156-113G>C c.778G>C (n.778G>C) | |
16 | g.67940187C>T | CA8120907 | LCAT | c.1040G>A (p.Arg347His) c.156-113G>A c.778G>A (n.778G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940188G>A | CA8120908 | LCAT | c.1039C>T (p.Arg347Cys) c.156-114C>T c.777C>T (n.777C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940188G>C | CA396375816 | LCAT | c.1039C>G (p.Arg347Gly) c.156-114C>G c.777C>G (n.777C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940188G= | CA2229563248 | LCAT | c.1039C= (p.Arg347=) c.156-114C= c.777C= (n.777C=) | |
16 | g.67940188G>T | CA396375817 | LCAT | c.1039C>A (p.Arg347Ser) c.156-114C>A c.777C>A (n.777C>A) | |
16 | g.67940191_67940192insGGGGGG | CA8120906 | LCAT | c.1039_1040insCCCCCC (p.Pro346_Arg347insProPro) c.156-114_156-113insCCCCCC c.777_778insCCCCCC (n.777_778insCCCCCC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940191_67940192insGGGGGGG | CA623122338 | LCAT | c.1039_1040insCCCCCCC (p.Arg347ProfsTer22) c.156-114_156-113insCCCCCCC c.777_778insCCCCCCC (n.777_778insCCCCCCC) | gnomAD v2 |
16 | g.67940191_67940192insGGGGGGGG | CA919730845 | LCAT | c.1039_1040insCCCCCCCC (p.Arg347ProfsTer?) c.156-114_156-113insCCCCCCCC c.777_778insCCCCCCCC (n.777_778insCCCCCCCC) | dbSNP |
16 | g.67940191del | CA645584338 | LCAT | c.1039del (p.Arg347AlafsTer?) c.156-114del c.777del (n.777del) | COSMIC |
16 | g.67940189G>A | CA496383972 | LCAT | c.1038C>T (p.Pro346=) c.156-115C>T c.776C>T (n.776C>T) | |
16 | g.67940189G>C | CA496383974 | LCAT | c.1038C>G (p.Pro346=) c.156-115C>G c.776C>G (n.776C>G) | |
16 | g.67940189G>T | CA496383975 | LCAT | c.1038C>A (p.Pro346=) c.156-115C>A c.776C>A (n.776C>A) | |
16 | g.67940191_67940201del | CA623122339 | LCAT | c.1028_1038del (p.Leu343ProfsTer20) c.156-125_156-115del c.766_776del (n.766_776del) | gnomAD v2 gnomAD v4 |
16 | g.67940190G>A | CA396375818 | LCAT | c.1037C>T (p.Pro346Leu) c.156-116C>T c.775C>T (n.775C>T) | |
16 | g.67940190G>C | CA396375819 | LCAT | c.1037C>G (p.Pro346Arg) c.156-116C>G c.775C>G (n.775C>G) | |
16 | g.67940190G>T | CA396375820 | LCAT | c.1037C>A (p.Pro346His) c.156-116C>A c.775C>A (n.775C>A) | |
16 | g.67940190_67940211del | CA2633850829 | LCAT | c.1016_1037del (p.Tyr339SerfsTer?) c.156-137_156-116del c.754_775del (n.754_775del) | gnomAD v4 |
16 | g.67940191_67940219del | CA2633850830 | LCAT | c.1009_1037del (p.Cys337ProfsTer20) c.156-144_156-116del c.747_775del (n.747_775del) | gnomAD v4 |
16 | g.67940191G>A | CA396375821 | LCAT | c.1036C>T (p.Pro346Ser) c.156-117C>T c.774C>T (n.774C>T) | |
16 | g.67940191G>C | CA396375822 | LCAT | c.1036C>G (p.Pro346Ala) c.156-117C>G c.774C>G (n.774C>G) | |
16 | g.67940191G>T | CA396375823 | LCAT | c.1036C>A (p.Pro346Thr) c.156-117C>A c.774C>A (n.774C>A) | |
16 | g.67940192_67940215del | CA2633850835 | LCAT | c.1013_1036del (p.Leu338_Thr345del) c.156-140_156-117del c.751_774del (n.751_774del) | gnomAD v4 |
16 | g.67940192C>A | CA496383978 | LCAT | c.1035G>T (p.Thr345=) c.156-118G>T c.773G>T (n.773G>T) | |
16 | g.67940192C= | CA2229563249 | LCAT | c.1035G= (p.Thr345=) c.156-118G= c.773G= (n.773G=) | |
16 | g.67940192C>G | CA8120910 | LCAT | c.1035G>C (p.Thr345=) c.156-118G>C c.773G>C (n.773G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940192C>T | CA8120909 | LCAT | c.1035G>A (p.Thr345=) c.156-118G>A c.773G>A (n.773G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940194_67940207del | CA2633850841 | LCAT | c.1022_1035del (p.Val341AlafsTer21) c.156-131_156-118del c.760_773del (n.760_773del) | gnomAD v4 |
16 | g.67940193G>A | CA116425 | LCAT | c.1034C>T (p.Thr345Met) c.156-119C>T c.772C>T (n.772C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940193G>C | CA396375824 | LCAT | c.1034C>G (p.Thr345Arg) c.156-119C>G c.772C>G (n.772C>G) | |
16 | g.67940193G= | CA2229563250 | LCAT | c.1034C= (p.Thr345=) c.156-119C= c.772C= (n.772C=) | |
16 | g.67940193G>T | CA283160725 | LCAT | c.1034C>A (p.Thr345Lys) c.156-119C>A c.772C>A (n.772C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940194_67940201del | CA2633850850 | LCAT | c.1027_1034del (p.Leu343AlafsTer21) c.156-126_156-119del c.765_772del (n.765_772del) | gnomAD v4 |
16 | g.67940194T>A | CA396375825 | LCAT | c.1033A>T (p.Thr345Ser) c.156-120A>T c.771A>T (n.771A>T) | |
16 | g.67940194T>C | CA396375826 | LCAT | c.1033A>G (p.Thr345Ala) c.156-120A>G c.771A>G (n.771A>G) | gnomAD v4 |
16 | g.67940194T>G | CA8120911 | LCAT | c.1033A>C (p.Thr345Pro) c.156-120A>C c.771A>C (n.771A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940194T= | CA2229563251 | LCAT | c.1033A= (p.Thr345=) c.156-120A= c.771A= (n.771A=) | |
16 | g.67940195G>A | CA496383981 | LCAT | c.1032C>T (p.Pro344=) c.156-121C>T c.770C>T (n.770C>T) | dbSNP gnomAD v4 |
16 | g.67940195G>C | CA496383982 | LCAT | c.1032C>G (p.Pro344=) c.156-121C>G c.770C>G (n.770C>G) | |
16 | g.67940195G= | CA2229563252 | LCAT | c.1032C= (p.Pro344=) c.156-121C= c.770C= (n.770C=) | |
16 | g.67940195G>T | CA496383983 | LCAT | c.1032C>A (p.Pro344=) c.156-121C>A c.770C>A (n.770C>A) | |
16 | g.67940196_67940210del | CA2633850859 | LCAT | c.1018_1032del (p.Gly340_Pro344del) c.156-135_156-121del c.756_770del (n.756_770del) | gnomAD v4 |
16 | g.67940196G>A | CA396375827 | LCAT | c.1031C>T (p.Pro344Leu) c.156-122C>T c.769C>T (n.769C>T) | gnomAD v4 |
16 | g.67940196G>C | CA396375828 | LCAT | c.1031C>G (p.Pro344Arg) c.156-122C>G c.769C>G (n.769C>G) | gnomAD v4 |
16 | g.67940196G= | CA2229563253 | LCAT | c.1031C= (p.Pro344=) c.156-122C= c.769C= (n.769C=) | |
16 | g.67940196G>T | CA8120912 | LCAT | c.1031C>A (p.Pro344His) c.156-122C>A c.769C>A (n.769C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940197_67940207del | CA2633850861 | LCAT | c.1021_1031del (p.Val341HisfsTer22) c.156-132_156-122del c.759_769del (n.759_769del) | gnomAD v4 |
16 | g.67940197_67940210del | CA2576033442 | LCAT | c.1018_1031del (p.Gly340HisfsTer22) c.156-135_156-122del c.756_769del (n.756_769del) | |
16 | g.67940197G>A | CA396375829 | LCAT | c.1030C>T (p.Pro344Ser) c.156-123C>T c.768C>T (n.768C>T) | dbSNP gnomAD v4 |
16 | g.67940197G>C | CA396375830 | LCAT | c.1030C>G (p.Pro344Ala) c.156-123C>G c.768C>G (n.768C>G) | |
16 | g.67940197G= | CA2229563256 | LCAT | c.1030C= (p.Pro344=) c.156-123C= c.768C= (n.768C=) | |
16 | g.67940197G>T | CA396375831 | LCAT | c.1030C>A (p.Pro344Thr) c.156-123C>A c.768C>A (n.768C>A) | |
16 | g.67940197_67940199delinsGCA | CA2229563254 | LCAT | c.1028_1030delinsTGC (p.Leu343=) c.156-125_156-123delinsTGC c.766_768delinsTGC (n.766_768delinsTGC) | |
16 | g.67940197_67940204del | CA2633850865 | LCAT | c.1023_1030del (p.Gly342HisfsTer22) c.156-130_156-123del c.761_768del (n.761_768del) | gnomAD v4 |
16 | g.67940197_67940211del | CA2580091816 | LCAT | c.1016_1030del (p.Tyr339_Pro344delinsSer) c.156-137_156-123del c.754_768del (n.754_768del) | ClinVar |
16 | g.67940197_67940246delinsGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGT | CA2229563255 | LCAT | c.981_1030delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC (p.Gly327=) c.156-172_156-123delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC c.719_768delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC (n.719_768delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC) | |
16 | g.67940198del | CA2695223581 | LCAT | c.1029del (p.Thr345ArgfsTer?) c.156-124del c.767del (n.767del) | |
16 | g.67940198C>A | CA496383989 | LCAT | c.1029G>T (p.Leu343=) c.156-124G>T c.767G>T (n.767G>T) | |
16 | g.67940198C= | CA2229563257 | LCAT | c.1029G= (p.Leu343=) c.156-124G= c.767G= (n.767G=) | |
16 | g.67940198C>G | CA496383990 | LCAT | c.1029G>C (p.Leu343=) c.156-124G>C c.767G>C (n.767G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940198C>T | CA496383991 | LCAT | c.1029G>A (p.Leu343=) c.156-124G>A c.767G>A (n.767G>A) | |
16 | g.67940198_67940199del | CA8120913 | LCAT | c.1028_1029del (p.Leu343ProfsTer23) c.156-125_156-124del c.766_767del (n.766_767del) | dbSNP ExAC gnomAD v4 |
16 | g.67940200_67940205del | CA496383988 | LCAT | c.1024_1029del (p.Gly342_Leu343del) c.156-129_156-124del c.762_767del (n.762_767del) | |
16 | g.67940199_67940247del | CA723097333 | LCAT | c.981_1029del (p.Leu328ProfsTer?) c.156-172_156-124del c.719_767del (n.719_767del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940199A= | CA2229563258 | LCAT | c.1028T= (p.Leu343=) c.156-125T= c.766T= (n.766T=) | |
16 | g.67940199A>C | CA396375834 | LCAT | c.1028T>G (p.Leu343Arg) c.156-125T>G c.766T>G (n.766T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940199A>G | CA396375832 | LCAT | c.1028T>C (p.Leu343Pro) c.156-125T>C c.766T>C (n.766T>C) | dbSNP gnomAD v4 |
16 | g.67940199A>T | CA396375833 | LCAT | c.1028T>A (p.Leu343Gln) c.156-125T>A c.766T>A (n.766T>A) | |
16 | g.67940199_67940200delinsCT | CA2573054257 | LCAT | c.1027_1028delinsAG (p.Leu343Arg) c.156-126_156-125delinsAG c.765_766delinsAG (n.765_766delinsAG) | ClinVar |
16 | g.67940200G>A | CA8120914 | LCAT | c.1027C>T (p.Leu343=) c.156-126C>T c.765C>T (n.765C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940200G>C | CA396375835 | LCAT | c.1027C>G (p.Leu343Val) c.156-126C>G c.765C>G (n.765C>G) | |
16 | g.67940200G= | CA2229563259 | LCAT | c.1027C= (p.Leu343=) c.156-126C= c.765C= (n.765C=) | |
16 | g.67940200G>T | CA396375836 | LCAT | c.1027C>A (p.Leu343Met) c.156-126C>A c.765C>A (n.765C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940200_67940202del | CA623122340 | LCAT | c.1025_1027del (p.Gly342_Leu343delinsVal) c.156-128_156-126del c.763_765del (n.763_765del) | gnomAD v2 gnomAD v4 |
16 | g.67940201G>A | CA496383997 | LCAT | c.1026C>T (p.Gly342=) c.156-127C>T c.764C>T (n.764C>T) | |
16 | g.67940201G>C | CA496383998 | LCAT | c.1026C>G (p.Gly342=) c.156-127C>G c.764C>G (n.764C>G) | gnomAD v4 |
16 | g.67940201G>T | CA496383999 | LCAT | c.1026C>A (p.Gly342=) c.156-127C>A c.764C>A (n.764C>A) | |
16 | g.67940202C>A | CA396375837 | LCAT | c.1025G>T (p.Gly342Val) c.156-128G>T c.763G>T (n.763G>T) | gnomAD v4 |
16 | g.67940202C>G | CA396375838 | LCAT | c.1025G>C (p.Gly342Ala) c.156-128G>C c.763G>C (n.763G>C) | |
16 | g.67940202C>T | CA396375839 | LCAT | c.1025G>A (p.Gly342Asp) c.156-128G>A c.763G>A (n.763G>A) | |
16 | g.67940203C>A | CA396375840 | LCAT | c.1024G>T (p.Gly342Cys) c.156-129G>T c.762G>T (n.762G>T) | |
16 | g.67940203C>G | CA396375841 | LCAT | c.1024G>C (p.Gly342Arg) c.156-129G>C c.762G>C (n.762G>C) | COSMIC |
16 | g.67940203C>T | CA396375842 | LCAT | c.1024G>A (p.Gly342Ser) c.156-129G>A c.762G>A (n.762G>A) | |
16 | g.67940204C>A | CA496384002 | LCAT | c.1023G>T (p.Val341=) c.156-130G>T c.761G>T (n.761G>T) | |
16 | g.67940204C>G | CA496384003 | LCAT | c.1023G>C (p.Val341=) c.156-130G>C c.761G>C (n.761G>C) | |
16 | g.67940204C>T | CA496384004 | LCAT | c.1023G>A (p.Val341=) c.156-130G>A c.761G>A (n.761G>A) | COSMIC |
16 | g.67940205A>C | CA396375843 | LCAT | c.1022T>G (p.Val341Gly) c.156-131T>G c.760T>G (n.760T>G) | dbSNP |
16 | g.67940205A>G | CA396375844 | LCAT | c.1022T>C (p.Val341Ala) c.156-131T>C c.760T>C (n.760T>C) | COSMIC |
16 | g.67940205A>T | CA396375845 | LCAT | c.1022T>A (p.Val341Glu) c.156-131T>A c.760T>A (n.760T>A) | |
16 | g.67940206C>A | CA396375847 | LCAT | c.1021G>T (p.Val341Leu) c.156-132G>T c.759G>T (n.759G>T) | |
16 | g.67940206C= | CA2229563260 | LCAT | c.1021G= (p.Val341=) c.156-132G= c.759G= (n.759G=) | |
16 | g.67940206C>G | CA396375846 | LCAT | c.1021G>C (p.Val341Leu) c.156-132G>C c.759G>C (n.759G>C) | COSMIC |
16 | g.67940206C>T | CA8120915 | LCAT | c.1021G>A (p.Val341Met) c.156-132G>A c.759G>A (n.759G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940207G>A | CA8120916 | LCAT | c.1020C>T (p.Gly340=) c.156-133C>T c.758C>T (n.758C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940207G>C | CA496384010 | LCAT | c.1020C>G (p.Gly340=) c.156-133C>G c.758C>G (n.758C>G) | |
16 | g.67940207G= | CA2229563261 | LCAT | c.1020C= (p.Gly340=) c.156-133C= c.758C= (n.758C=) | |
16 | g.67940207G>T | CA496384007 | LCAT | c.1020C>A (p.Gly340=) c.156-133C>A c.758C>A (n.758C>A) | gnomAD v4 |
16 | g.67940208C>A | CA396375850 | LCAT | c.1019G>T (p.Gly340Val) c.156-134G>T c.757G>T (n.757G>T) | |
16 | g.67940208C>G | CA396375848 | LCAT | c.1019G>C (p.Gly340Ala) c.156-134G>C c.757G>C (n.757G>C) | |
16 | g.67940208C>T | CA396375849 | LCAT | c.1019G>A (p.Gly340Asp) c.156-134G>A c.757G>A (n.757G>A) | |
16 | g.67940210_67940233del | CA2633850898 | LCAT | c.996_1019del (p.Val333_Gly340del) c.156-157_156-134del c.734_757del (n.734_757del) | gnomAD v4 |
16 | g.67940209C>A | CA283160762 | LCAT | c.1018G>T (p.Gly340Cys) c.156-135G>T c.756G>T (n.756G>T) | dbSNP |
16 | g.67940209C= | CA2229563262 | LCAT | c.1018G= (p.Gly340=) c.156-135G= c.756G= (n.756G=) | |
16 | g.67940209C>G | CA396375851 | LCAT | c.1018G>C (p.Gly340Arg) c.156-135G>C c.756G>C (n.756G>C) | |
16 | g.67940209C>T | CA396375852 | LCAT | c.1018G>A (p.Gly340Ser) c.156-135G>A c.756G>A (n.756G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940210G>A | CA8120917 | LCAT | c.1017C>T (p.Tyr339=) c.156-136C>T c.755C>T (n.755C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940210G>C | CA396375854 | LCAT | c.1017C>G (p.Tyr339Ter) c.156-136C>G c.755C>G (n.755C>G) | |
16 | g.67940210G= | CA2229563263 | LCAT | c.1017C= (p.Tyr339=) c.156-136C= c.755C= (n.755C=) | |
16 | g.67940210G>T | CA396375853 | LCAT | c.1017C>A (p.Tyr339Ter) c.156-136C>A c.755C>A (n.755C>A) | dbSNP gnomAD v2 |
16 | g.67940211T>A | CA396375855 | LCAT | c.1016A>T (p.Tyr339Phe) c.156-137A>T c.754A>T (n.754A>T) | |
16 | g.67940211T>C | CA396375856 | LCAT | c.1016A>G (p.Tyr339Cys) c.156-137A>G c.754A>G (n.754A>G) | |
16 | g.67940211T>G | CA396375857 | LCAT | c.1016A>C (p.Tyr339Ser) c.156-137A>C c.754A>C (n.754A>C) | |
16 | g.67940212A= | CA2229563264 | LCAT | c.1015T= (p.Tyr339=) c.156-138T= c.753T= (n.753T=) | |
16 | g.67940212A>C | CA396375858 | LCAT | c.1015T>G (p.Tyr339Asp) c.156-138T>G c.753T>G (n.753T>G) | |
16 | g.67940212A>G | CA8120918 | LCAT | c.1015T>C (p.Tyr339His) c.156-138T>C c.753T>C (n.753T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940212A>T | CA396375859 | LCAT | c.1015T>A (p.Tyr339Asn) c.156-138T>A c.753T>A (n.753T>A) | |
16 | g.67940213A>C | CA496384014 | LCAT | c.1014T>G (p.Leu338=) c.156-139T>G c.752T>G (n.752T>G) | |
16 | g.67940213A>G | CA496384016 | LCAT | c.1014T>C (p.Leu338=) c.156-139T>C c.752T>C (n.752T>C) | |
16 | g.67940213A>T | CA496384015 | LCAT | c.1014T>A (p.Leu338=) c.156-139T>A c.752T>A (n.752T>A) | |
16 | g.67940214A= | CA2229563265 | LCAT | c.1013T= (p.Leu338=) c.156-140T= c.751T= (n.751T=) | |
16 | g.67940214A>C | CA396375860 | LCAT | c.1013T>G (p.Leu338Arg) c.156-140T>G c.751T>G (n.751T>G) | |
16 | g.67940214A>G | CA396375862 | LCAT | c.1013T>C (p.Leu338Pro) c.156-140T>C c.751T>C (n.751T>C) | gnomAD v4 |
16 | g.67940214A>T | CA396375861 | LCAT | c.1013T>A (p.Leu338His) c.156-140T>A c.751T>A (n.751T>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940215G>A | CA396375863 | LCAT | c.1012C>T (p.Leu338Phe) c.156-141C>T c.750C>T (n.750C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940215G>C | CA396375864 | LCAT | c.1012C>G (p.Leu338Val) c.156-141C>G c.750C>G (n.750C>G) | |
16 | g.67940215G= | CA2229563266 | LCAT | c.1012C= (p.Leu338=) c.156-141C= c.750C= (n.750C=) | |
16 | g.67940215G>T | CA396375865 | LCAT | c.1012C>A (p.Leu338Ile) c.156-141C>A c.750C>A (n.750C>A) | |
16 | g.67940216A= | CA2229563267 | LCAT | c.1011T= (p.Cys337=) c.156-142T= c.749T= (n.749T=) | |
16 | g.67940216A>C | CA396375866 | LCAT | c.1011T>G (p.Cys337Trp) c.156-142T>G c.749T>G (n.749T>G) | |
16 | g.67940216A>G | CA496384021 | LCAT | c.1011T>C (p.Cys337=) c.156-142T>C c.749T>C (n.749T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940216A>T | CA396375867 | LCAT | c.1011T>A (p.Cys337Ter) c.156-142T>A c.749T>A (n.749T>A) | dbSNP |
16 | g.67940217C>A | CA396375868 | LCAT | c.1010G>T (p.Cys337Phe) c.156-143G>T c.748G>T (n.748G>T) | |
16 | g.67940217C>G | CA396375869 | LCAT | c.1010G>C (p.Cys337Ser) c.156-143G>C c.748G>C (n.748G>C) | |
16 | g.67940217C>T | CA396375870 | LCAT | c.1010G>A (p.Cys337Tyr) c.156-143G>A c.748G>A (n.748G>A) | |
16 | g.67940218A= | CA2229563268 | LCAT | c.1009T= (p.Cys337=) c.156-144T= c.747T= (n.747T=) | |
16 | g.67940218A>C | CA396375871 | LCAT | c.1009T>G (p.Cys337Gly) c.156-144T>G c.747T>G (n.747T>G) | |
16 | g.67940218A>G | CA396375872 | LCAT | c.1009T>C (p.Cys337Arg) c.156-144T>C c.747T>C (n.747T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940218A>T | CA396375873 | LCAT | c.1009T>A (p.Cys337Ser) c.156-144T>A c.747T>A (n.747T>A) | |
16 | g.67940218_67940219del | CA2576033447 | LCAT | c.1008_1009del (p.Tyr336Ter) c.156-145_156-144del c.746_747del (n.746_747del) | |
16 | g.67940219G>A | CA496384026 | LCAT | c.1008C>T (p.Tyr336=) c.156-145C>T c.746C>T (n.746C>T) | |
16 | g.67940219G>C | CA396375875 | LCAT | c.1008C>G (p.Tyr336Ter) c.156-145C>G c.746C>G (n.746C>G) | |
16 | g.67940219G>T | CA396375874 | LCAT | c.1008C>A (p.Tyr336Ter) c.156-145C>A c.746C>A (n.746C>A) | |
16 | g.67940220T>A | CA396375876 | LCAT | c.1007A>T (p.Tyr336Phe) c.156-146A>T c.745A>T (n.745A>T) | |
16 | g.67940220T>C | CA396375877 | LCAT | c.1007A>G (p.Tyr336Cys) c.156-146A>G c.745A>G (n.745A>G) | COSMIC |
16 | g.67940220T>G | CA396375878 | LCAT | c.1007A>C (p.Tyr336Ser) c.156-146A>C c.745A>C (n.745A>C) | |
16 | g.67940222_67940223del | CA2633850912 | LCAT | c.1006_1007del (p.Tyr336LeufsTer30) c.156-147_156-146del c.744_745del (n.744_745del) | gnomAD v4 |
16 | g.67940221A>C | CA396375879 | LCAT | c.1006T>G (p.Tyr336Asp) c.156-147T>G c.744T>G (n.744T>G) | |
16 | g.67940221A>G | CA396375880 | LCAT | c.1006T>C (p.Tyr336His) c.156-147T>C c.744T>C (n.744T>C) | |
16 | g.67940221A>T | CA396375881 | LCAT | c.1006T>A (p.Tyr336Asn) c.156-147T>A c.744T>A (n.744T>A) |