Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
16 | g.67940222T>A | CA496384074 | LCAT | c.1005A>T (p.Val335=) c.156-148A>T c.743A>T (n.743A>T) | |
16 | g.67940222T>C | CA496384075 | LCAT | c.1005A>G (p.Val335=) c.156-148A>G c.743A>G (n.743A>G) | |
16 | g.67940222T>G | CA8120919 | LCAT | c.1005A>C (p.Val335=) c.156-148A>C c.743A>C (n.743A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940222T= | CA2229563269 | LCAT | c.1005A= (p.Val335=) c.156-148A= c.743A= (n.743A=) | |
16 | g.67940223A>C | CA396375884 | LCAT | c.1004T>G (p.Val335Gly) c.156-149T>G c.742T>G (n.742T>G) | |
16 | g.67940223A>G | CA396375882 | LCAT | c.1004T>C (p.Val335Ala) c.156-149T>C c.742T>C (n.742T>C) | |
16 | g.67940223A>T | CA396375883 | LCAT | c.1004T>A (p.Val335Glu) c.156-149T>A c.742T>A (n.742T>A) | |
16 | g.67940224C>A | CA396375885 | LCAT | c.1003G>T (p.Val335Leu) c.156-150G>T c.741G>T (n.741G>T) | |
16 | g.67940224C>G | CA396375886 | LCAT | c.1003G>C (p.Val335Leu) c.156-150G>C c.741G>C (n.741G>C) | |
16 | g.67940224C>T | CA396375887 | LCAT | c.1003G>A (p.Val335Ile) c.156-150G>A c.741G>A (n.741G>A) | gnomAD v4 |
16 | g.67940225T>A | CA396375888 | LCAT | c.1002A>T (p.Glu334Asp) c.156-151A>T c.740A>T (n.740A>T) | |
16 | g.67940225T>C | CA496384076 | LCAT | c.1002A>G (p.Glu334=) c.156-151A>G c.740A>G (n.740A>G) | dbSNP |
16 | g.67940225T>G | CA396375889 | LCAT | c.1002A>C (p.Glu334Asp) c.156-151A>C c.740A>C (n.740A>C) | |
16 | g.67940225T= | CA2229563270 | LCAT | c.1002A= (p.Glu334=) c.156-151A= c.740A= (n.740A=) | |
16 | g.67940226T>A | CA396375890 | LCAT | c.1001A>T (p.Glu334Val) c.156-152A>T c.739A>T (n.739A>T) | |
16 | g.67940226T>C | CA396375892 | LCAT | c.1001A>G (p.Glu334Gly) c.156-152A>G c.739A>G (n.739A>G) | |
16 | g.67940226T>G | CA396375891 | LCAT | c.1001A>C (p.Glu334Ala) c.156-152A>C c.739A>C (n.739A>C) | |
16 | g.67940227C>A | CA396375893 | LCAT | c.1000G>T (p.Glu334Ter) c.156-153G>T c.738G>T (n.738G>T) | |
16 | g.67940227C>G | CA396375894 | LCAT | c.1000G>C (p.Glu334Gln) c.156-153G>C c.738G>C (n.738G>C) | |
16 | g.67940227C>T | CA396375895 | LCAT | c.1000G>A (p.Glu334Lys) c.156-153G>A c.738G>A (n.738G>A) | |
16 | g.67940228C>A | CA496384077 | LCAT | c.999G>T (p.Val333=) c.156-154G>T c.737G>T (n.737G>T) | |
16 | g.67940228C>G | CA496384079 | LCAT | c.999G>C (p.Val333=) c.156-154G>C c.737G>C (n.737G>C) | |
16 | g.67940228C>T | CA496384078 | LCAT | c.999G>A (p.Val333=) c.156-154G>A c.737G>A (n.737G>A) | |
16 | g.67940229A>C | CA396375896 | LCAT | c.998T>G (p.Val333Gly) c.156-155T>G c.736T>G (n.736T>G) | |
16 | g.67940229A>G | CA396375897 | LCAT | c.998T>C (p.Val333Ala) c.156-155T>C c.736T>C (n.736T>C) | |
16 | g.67940229A>T | CA396375898 | LCAT | c.998T>A (p.Val333Glu) c.156-155T>A c.736T>A (n.736T>A) | |
16 | g.67940230C>A | CA396375899 | LCAT | c.997G>T (p.Val333Leu) c.156-156G>T c.735G>T (n.735G>T) | |
16 | g.67940230C= | CA2229563271 | LCAT | c.997G= (p.Val333=) c.156-156G= c.735G= (n.735G=) | |
16 | g.67940230C>G | CA396375900 | LCAT | c.997G>C (p.Val333Leu) c.156-156G>C c.735G>C (n.735G>C) | |
16 | g.67940230C>T | CA8120920 | LCAT | c.997G>A (p.Val333Met) c.156-156G>A c.735G>A (n.735G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940231A>C | CA496384080 | LCAT | c.996T>G (p.Gly332=) c.156-157T>G c.734T>G (n.734T>G) | |
16 | g.67940231A>G | CA496384082 | LCAT | c.996T>C (p.Gly332=) c.156-157T>C c.734T>C (n.734T>C) | |
16 | g.67940231A>T | CA496384081 | LCAT | c.996T>A (p.Gly332=) c.156-157T>A c.734T>A (n.734T>A) | |
16 | g.67940232C>A | CA396375901 | LCAT | c.995G>T (p.Gly332Val) c.156-158G>T c.733G>T (n.733G>T) | |
16 | g.67940232C>G | CA396375902 | LCAT | c.995G>C (p.Gly332Ala) c.156-158G>C c.733G>C (n.733G>C) | |
16 | g.67940232C>T | CA396375903 | LCAT | c.995G>A (p.Gly332Asp) c.156-158G>A c.733G>A (n.733G>A) | |
16 | g.67940233C>A | CA396375905 | LCAT | c.994G>T (p.Gly332Cys) c.156-159G>T c.732G>T (n.732G>T) | |
16 | g.67940233C= | CA2229563272 | LCAT | c.994G= (p.Gly332=) c.156-159G= c.732G= (n.732G=) | |
16 | g.67940233C>G | CA396375904 | LCAT | c.994G>C (p.Gly332Arg) c.156-159G>C c.732G>C (n.732G>C) | gnomAD v4 |
16 | g.67940233C>T | CA283160801 | LCAT | c.994G>A (p.Gly332Ser) c.156-159G>A c.732G>A (n.732G>A) | dbSNP |
16 | g.67940234A>C | CA496384083 | LCAT | c.993T>G (p.Pro331=) c.156-160T>G c.731T>G (n.731T>G) | gnomAD v4 |
16 | g.67940234A>G | CA496384084 | LCAT | c.993T>C (p.Pro331=) c.156-160T>C c.731T>C (n.731T>C) | gnomAD v4 |
16 | g.67940234A>T | CA496384085 | LCAT | c.993T>A (p.Pro331=) c.156-160T>A c.731T>A (n.731T>A) | |
16 | g.67940235G>A | CA396375906 | LCAT | c.992C>T (p.Pro331Leu) c.156-161C>T c.730C>T (n.730C>T) | dbSNP gnomAD v4 |
16 | g.67940235G>C | CA396375908 | LCAT | c.992C>G (p.Pro331Arg) c.156-161C>G c.730C>G (n.730C>G) | |
16 | g.67940235G= | CA2229563273 | LCAT | c.992C= (p.Pro331=) c.156-161C= c.730C= (n.730C=) | |
16 | g.67940235G>T | CA396375907 | LCAT | c.992C>A (p.Pro331His) c.156-161C>A c.730C>A (n.730C>A) | |
16 | g.67940236G>A | CA396375909 | LCAT | c.991C>T (p.Pro331Ser) c.156-162C>T c.729C>T (n.729C>T) | |
16 | g.67940236G>C | CA396375910 | LCAT | c.991C>G (p.Pro331Ala) c.156-162C>G c.729C>G (n.729C>G) | |
16 | g.67940236G>T | CA396375911 | LCAT | c.991C>A (p.Pro331Thr) c.156-162C>A c.729C>A (n.729C>A) | |
16 | g.67940236_67940247dup | CA723097401 | LCAT | c.980_991dup (p.Ala330_Pro331insArgLeuProAla) c.156-173_156-162dup c.718_729dup (n.718_729dup) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940237T>A | CA496384086 | LCAT | c.990A>T (p.Ala330=) c.156-163A>T c.728A>T (n.728A>T) | |
16 | g.67940237T>C | CA496384088 | LCAT | c.990A>G (p.Ala330=) c.156-163A>G c.728A>G (n.728A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940237T>G | CA496384087 | LCAT | c.990A>C (p.Ala330=) c.156-163A>C c.728A>C (n.728A>C) | |
16 | g.67940237T= | CA2229563274 | LCAT | c.990A= (p.Ala330=) c.156-163A= c.728A= (n.728A=) | |
16 | g.67940238G>A | CA396375912 | LCAT | c.989C>T (p.Ala330Val) c.156-164C>T c.727C>T (n.727C>T) | COSMIC |
16 | g.67940238G>C | CA396375913 | LCAT | c.989C>G (p.Ala330Gly) c.156-164C>G c.727C>G (n.727C>G) | |
16 | g.67940238G>T | CA396375914 | LCAT | c.989C>A (p.Ala330Glu) c.156-164C>A c.727C>A (n.727C>A) | gnomAD v4 |
16 | g.67940239C>A | CA396375915 | LCAT | c.988G>T (p.Ala330Ser) c.156-165G>T c.726G>T (n.726G>T) | |
16 | g.67940239C= | CA2229563275 | LCAT | c.988G= (p.Ala330=) c.156-165G= c.726G= (n.726G=) | |
16 | g.67940239C>G | CA396375916 | LCAT | c.988G>C (p.Ala330Pro) c.156-165G>C c.726G>C (n.726G>C) | gnomAD v4 |
16 | g.67940239C>T | CA8120921 | LCAT | c.988G>A (p.Ala330Thr) c.156-165G>A c.726G>A (n.726G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940240T>A | CA496384089 | LCAT | c.987A>T (p.Pro329=) c.156-166A>T c.725A>T (n.725A>T) | |
16 | g.67940240T>C | CA496384090 | LCAT | c.987A>G (p.Pro329=) c.156-166A>G c.725A>G (n.725A>G) | |
16 | g.67940240T>G | CA496384091 | LCAT | c.987A>C (p.Pro329=) c.156-166A>C c.725A>C (n.725A>C) | |
16 | g.67940241G>A | CA396375917 | LCAT | c.986C>T (p.Pro329Leu) c.156-167C>T c.724C>T (n.724C>T) | dbSNP gnomAD v4 |
16 | g.67940241G>C | CA396375918 | LCAT | c.986C>G (p.Pro329Arg) c.156-167C>G c.724C>G (n.724C>G) | |
16 | g.67940241G= | CA2229563276 | LCAT | c.986C= (p.Pro329=) c.156-167C= c.724C= (n.724C=) | |
16 | g.67940241G>T | CA396375919 | LCAT | c.986C>A (p.Pro329Gln) c.156-167C>A c.724C>A (n.724C>A) | |
16 | g.67940242G>A | CA396375920 | LCAT | c.985C>T (p.Pro329Ser) c.156-168C>T c.723C>T (n.723C>T) | |
16 | g.67940242G>C | CA396375922 | LCAT | c.985C>G (p.Pro329Ala) c.156-168C>G c.723C>G (n.723C>G) | |
16 | g.67940242G>T | CA396375921 | LCAT | c.985C>A (p.Pro329Thr) c.156-168C>A c.723C>A (n.723C>A) | |
16 | g.67940243G>A | CA283160815 | LCAT | c.984C>T (p.Leu328=) c.156-169C>T c.722C>T (n.722C>T) | dbSNP |
16 | g.67940243G>C | CA496384092 | LCAT | c.984C>G (p.Leu328=) c.156-169C>G c.722C>G (n.722C>G) | dbSNP |
16 | g.67940243G= | CA2229563277 | LCAT | c.984C= (p.Leu328=) c.156-169C= c.722C= (n.722C=) | |
16 | g.67940243G>T | CA496384093 | LCAT | c.984C>A (p.Leu328=) c.156-169C>A c.722C>A (n.722C>A) | |
16 | g.67940244A>C | CA396375923 | LCAT | c.983T>G (p.Leu328Arg) c.156-170T>G c.721T>G (n.721T>G) | |
16 | g.67940244A>G | CA396375924 | LCAT | c.983T>C (p.Leu328Pro) c.156-170T>C c.721T>C (n.721T>C) | |
16 | g.67940244A>T | CA396375925 | LCAT | c.983T>A (p.Leu328His) c.156-170T>A c.721T>A (n.721T>A) | |
16 | g.67940245G>A | CA396375926 | LCAT | c.982C>T (p.Leu328Phe) c.156-171C>T c.720C>T (n.720C>T) | dbSNP gnomAD v4 |
16 | g.67940245G>C | CA396375927 | LCAT | c.982C>G (p.Leu328Val) c.156-171C>G c.720C>G (n.720C>G) | |
16 | g.67940245G= | CA2229563278 | LCAT | c.982C= (p.Leu328=) c.156-171C= c.720C= (n.720C=) | |
16 | g.67940245G>T | CA396375928 | LCAT | c.982C>A (p.Leu328Ile) c.156-171C>A c.720C>A (n.720C>A) | |
16 | g.67940246T>A | CA496384095 | LCAT | c.981A>T (p.Gly327=) c.156-172A>T c.765A>T (p.Gly255=) c.719A>T (n.719A>T) | |
16 | g.67940246T>C | CA496384094 | LCAT | c.981A>G (p.Gly327=) c.156-172A>G c.765A>G (p.Gly255=) c.719A>G (n.719A>G) | |
16 | g.67940246T>G | CA8120922 | LCAT | c.981A>C (p.Gly327=) c.156-172A>C c.765A>C (p.Gly255=) c.719A>C (n.719A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940246T= | CA2229563279 | LCAT | c.981A= (p.Gly327=) c.156-172A= c.765A= (p.Gly255=) c.719A= (n.719A=) | |
16 | g.67940247C>A | CA8120923 | LCAT | c.980G>T (p.Gly327Val) c.156-173G>T c.764G>T (p.Gly255Val) c.718G>T (n.718G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940247C= | CA2229563280 | LCAT | c.980G= (p.Gly327=) c.156-173G= c.764G= (p.Gly255=) c.718G= (n.718G=) | |
16 | g.67940247C>G | CA396375929 | LCAT | c.980G>C (p.Gly327Ala) c.156-173G>C c.764G>C (p.Gly255Ala) c.718G>C (n.718G>C) | |
16 | g.67940247C>T | CA396375930 | LCAT | c.980G>A (p.Gly327Glu) c.156-173G>A c.764G>A (p.Gly255Glu) c.718G>A (n.718G>A) | |
16 | g.67940248C>A | CA396375933 | LCAT | c.979G>T (p.Gly327Ter) c.156-174G>T c.763G>T (p.Gly255Ter) c.717G>T (n.717G>T) | |
16 | g.67940248C= | CA2229563281 | LCAT | c.979G= (p.Gly327=) c.156-174G= c.763G= (p.Gly255=) c.717G= (n.717G=) | |
16 | g.67940248C>G | CA396375932 | LCAT | c.979G>C (p.Gly327Arg) c.156-174G>C c.763G>C (p.Gly255Arg) c.717G>C (n.717G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940248C>T | CA396375931 | LCAT | c.979G>A (p.Gly327Arg) c.156-174G>A c.763G>A (p.Gly255Arg) c.717G>A (n.717G>A) | gnomAD v4 |
16 | g.67940249T>A | CA496384096 | LCAT | c.978A>T (p.Ala326=) c.156-175A>T c.762A>T (p.Ala254=) c.716A>T (n.716A>T) | |
16 | g.67940249T>C | CA496384097 | LCAT | c.978A>G (p.Ala326=) c.156-175A>G c.762A>G (p.Ala254=) c.716A>G (n.716A>G) | dbSNP |
16 | g.67940249T>G | CA496384098 | LCAT | c.978A>C (p.Ala326=) c.156-175A>C c.762A>C (p.Ala254=) c.716A>C (n.716A>C) | gnomAD v4 |
16 | g.67940249T= | CA2229563282 | LCAT | c.978A= (p.Ala326=) c.156-175A= c.762A= (p.Ala254=) c.716A= (n.716A=) | |
16 | g.67940250G>A | CA396375936 | LCAT | c.977C>T (p.Ala326Val) c.156-176C>T c.761C>T (p.Ala254Val) c.715C>T (n.715C>T) | |
16 | g.67940250G>C | CA396375934 | LCAT | c.977C>G (p.Ala326Gly) c.156-176C>G c.761C>G (p.Ala254Gly) c.715C>G (n.715C>G) | |
16 | g.67940250G>T | CA396375935 | LCAT | c.977C>A (p.Ala326Glu) c.156-176C>A c.761C>A (p.Ala254Glu) c.715C>A (n.715C>A) | |
16 | g.67940251_67940263del | CA2633850947 | LCAT | c.965_977del (p.Arg322GlnfsTer?) c.156-188_156-176del c.749_761del (p.Arg250GlnfsTer?) c.703_715del (n.703_715del) | gnomAD v4 |
16 | g.67940251C>A | CA396375937 | LCAT | c.976G>T (p.Ala326Ser) c.156-177G>T c.760G>T (p.Ala254Ser) c.714G>T (n.714G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940251C= | CA2229563283 | LCAT | c.976G= (p.Ala326=) c.156-177G= c.760G= (p.Ala254=) c.714G= (n.714G=) | |
16 | g.67940251C>G | CA396375938 | LCAT | c.976G>C (p.Ala326Pro) c.156-177G>C c.760G>C (p.Ala254Pro) c.714G>C (n.714G>C) | |
16 | g.67940251C>T | CA8120924 | LCAT | c.976G>A (p.Ala326Thr) c.156-177G>A c.760G>A (p.Ala254Thr) c.714G>A (n.714G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940252C>A | CA496384099 | LCAT | c.975G>T (p.Leu325=) c.156-178G>T c.759G>T (p.Leu253=) c.713G>T (n.713G>T) | |
16 | g.67940252C>G | CA496384101 | LCAT | c.975G>C (p.Leu325=) c.156-178G>C c.759G>C (p.Leu253=) c.713G>C (n.713G>C) | |
16 | g.67940252C>T | CA496384100 | LCAT | c.975G>A (p.Leu325=) c.156-178G>A c.759G>A (p.Leu253=) c.713G>A (n.713G>A) | gnomAD v4 |
16 | g.67940252_67940255delinsCAGG | CA2229563284 | LCAT | c.972_975delinsCCTG (p.Leu324=) c.156-181_156-178delinsCCTG c.756_759delinsCCTG (p.Leu252=) c.710_713delinsCCTG (n.710_713delinsCCTG) | |
16 | g.67940253A= | CA2229563285 | LCAT | c.974T= (p.Leu325=) c.156-179T= c.758T= (p.Leu253=) c.712T= (n.712T=) | |
16 | g.67940253A>C | CA396375941 | LCAT | c.974T>G (p.Leu325Arg) c.156-179T>G c.758T>G (p.Leu253Arg) c.712T>G (n.712T>G) | |
16 | g.67940253A>G | CA396375940 | LCAT | c.974T>C (p.Leu325Pro) c.156-179T>C c.758T>C (p.Leu253Pro) c.712T>C (n.712T>C) | dbSNP gnomAD v2 |
16 | g.67940253A>T | CA396375939 | LCAT | c.974T>A (p.Leu325Gln) c.156-179T>A c.758T>A (p.Leu253Gln) c.712T>A (n.712T>A) | |
16 | g.67940256_67940258del | CA116428 | LCAT | c.972_974del (p.Leu325del) c.156-181_156-179del c.756_758del (p.Leu253del) c.710_712del (n.710_712del) | ClinVar dbSNP gnomAD v4 |
16 | g.67940254G>A | CA496384102 | LCAT | c.973C>T (p.Leu325=) c.156-180C>T c.757C>T (p.Leu253=) c.711C>T (n.711C>T) | COSMIC |
16 | g.67940254G>C | CA396375942 | LCAT | c.973C>G (p.Leu325Val) c.156-180C>G c.757C>G (p.Leu253Val) c.711C>G (n.711C>G) | |
16 | g.67940254G>T | CA396375943 | LCAT | c.973C>A (p.Leu325Met) c.156-180C>A c.757C>A (p.Leu253Met) c.711C>A (n.711C>A) | |
16 | g.67940255G>A | CA283160834 | LCAT | c.972C>T (p.Leu324=) c.156-181C>T c.756C>T (p.Leu252=) c.710C>T (n.710C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940255G>C | CA496384103 | LCAT | c.972C>G (p.Leu324=) c.156-181C>G c.756C>G (p.Leu252=) c.710C>G (n.710C>G) | |
16 | g.67940255G= | CA2229563286 | LCAT | c.972C= (p.Leu324=) c.156-181C= c.756C= (p.Leu252=) c.710C= (n.710C=) | |
16 | g.67940255G>T | CA496384104 | LCAT | c.972C>A (p.Leu324=) c.156-181C>A c.756C>A (p.Leu252=) c.710C>A (n.710C>A) | |
16 | g.67940256A>C | CA396375944 | LCAT | c.971T>G (p.Leu324Arg) c.156-182T>G c.755T>G (p.Leu252Arg) c.709T>G (n.709T>G) | |
16 | g.67940256A>G | CA396375945 | LCAT | c.971T>C (p.Leu324Pro) c.156-182T>C c.755T>C (p.Leu252Pro) c.709T>C (n.709T>C) | |
16 | g.67940256A>T | CA396375946 | LCAT | c.971T>A (p.Leu324His) c.156-182T>A c.755T>A (p.Leu252His) c.709T>A (n.709T>A) | dbSNP |
16 | g.67940257G>A | CA396375947 | LCAT | c.970C>T (p.Leu324Phe) c.156-183C>T c.754C>T (p.Leu252Phe) c.708C>T (n.708C>T) | gnomAD v4 |
16 | g.67940257G>C | CA396375949 | LCAT | c.970C>G (p.Leu324Val) c.156-183C>G c.754C>G (p.Leu252Val) c.708C>G (n.708C>G) | dbSNP gnomAD v4 |
16 | g.67940257G>T | CA396375948 | LCAT | c.970C>A (p.Leu324Ile) c.156-183C>A c.754C>A (p.Leu252Ile) c.708C>A (n.708C>A) | COSMIC |
16 | g.67940258G>A | CA496384105 | LCAT | c.969C>T (p.Asp323=) c.156-184C>T c.753C>T (p.Asp251=) c.707C>T (n.707C>T) | gnomAD v4 |
16 | g.67940258G>C | CA396375950 | LCAT | c.969C>G (p.Asp323Glu) c.156-184C>G c.753C>G (p.Asp251Glu) c.707C>G (n.707C>G) | |
16 | g.67940258G= | CA2229563287 | LCAT | c.969C= (p.Asp323=) c.156-184C= c.753C= (p.Asp251=) c.707C= (n.707C=) | |
16 | g.67940258G>T | CA396375951 | LCAT | c.969C>A (p.Asp323Glu) c.156-184C>A c.753C>A (p.Asp251Glu) c.707C>A (n.707C>A) | dbSNP |
16 | g.67940259T>A | CA396375952 | LCAT | c.968A>T (p.Asp323Val) c.156-185A>T c.752A>T (p.Asp251Val) c.706A>T (n.706A>T) | |
16 | g.67940259T>C | CA8120925 | LCAT | c.968A>G (p.Asp323Gly) c.156-185A>G c.752A>G (p.Asp251Gly) c.706A>G (n.706A>G) | dbSNP ExAC |
16 | g.67940259T>G | CA396375953 | LCAT | c.968A>C (p.Asp323Ala) c.156-185A>C c.752A>C (p.Asp251Ala) c.706A>C (n.706A>C) | |
16 | g.67940259T= | CA2229563288 | LCAT | c.968A= (p.Asp323=) c.156-185A= c.752A= (p.Asp251=) c.706A= (n.706A=) | |
16 | g.67940260C>A | CA396375954 | LCAT | c.967G>T (p.Asp323Tyr) c.156-186G>T c.751G>T (p.Asp251Tyr) c.705G>T (n.705G>T) | |
16 | g.67940260C>G | CA396375955 | LCAT | c.967G>C (p.Asp323His) c.156-186G>C c.751G>C (p.Asp251His) c.705G>C (n.705G>C) | |
16 | g.67940260C>T | CA396375956 | LCAT | c.967G>A (p.Asp323Asn) c.156-186G>A c.751G>A (p.Asp251Asn) c.705G>A (n.705G>A) | |
16 | g.67940261A>C | CA496384108 | LCAT | c.966T>G (p.Arg322=) c.156-187T>G c.750T>G (p.Arg250=) c.704T>G (n.704T>G) | |
16 | g.67940261A>G | CA496384107 | LCAT | c.966T>C (p.Arg322=) c.156-187T>C c.750T>C (p.Arg250=) c.704T>C (n.704T>C) | |
16 | g.67940261A>T | CA496384106 | LCAT | c.966T>A (p.Arg322=) c.156-187T>A c.750T>A (p.Arg250=) c.704T>A (n.704T>A) | |
16 | g.67940262C>A | CA396375957 | LCAT | c.965G>T (p.Arg322Leu) c.156-188G>T c.749G>T (p.Arg250Leu) c.703G>T (n.703G>T) | |
16 | g.67940262C= | CA2229563289 | LCAT | c.965G= (p.Arg322=) c.156-188G= c.749G= (p.Arg250=) c.703G= (n.703G=) | |
16 | g.67940262C>G | CA396375958 | LCAT | c.965G>C (p.Arg322Pro) c.156-188G>C c.749G>C (p.Arg250Pro) c.703G>C (n.703G>C) | |
16 | g.67940262C>T | CA8120926 | LCAT | c.965G>A (p.Arg322His) c.156-188G>A c.749G>A (p.Arg250His) c.703G>A (n.703G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940263G>A | CA396375960 | LCAT | c.964C>T (p.Arg322Cys) c.156-189C>T c.748C>T (p.Arg250Cys) c.702C>T (n.702C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940263G>C | CA396375961 | LCAT | c.964C>G (p.Arg322Gly) c.156-189C>G c.748C>G (p.Arg250Gly) c.702C>G (n.702C>G) | |
16 | g.67940263G= | CA2229563290 | LCAT | c.964C= (p.Arg322=) c.156-189C= c.748C= (p.Arg250=) c.702C= (n.702C=) | |
16 | g.67940263G>T | CA396375959 | LCAT | c.964C>A (p.Arg322Ser) c.156-189C>A c.748C>A (p.Arg250Ser) c.702C>A (n.702C>A) | |
16 | g.67940264T>A | CA496384109 | LCAT | c.963A>T (p.Ser321=) c.156-190A>T c.747A>T (p.Ser249=) c.701A>T (n.701A>T) | |
16 | g.67940264T>C | CA496384110 | LCAT | c.963A>G (p.Ser321=) c.156-190A>G c.747A>G (p.Ser249=) c.701A>G (n.701A>G) | |
16 | g.67940264T>G | CA496384111 | LCAT | c.963A>C (p.Ser321=) c.156-190A>C c.747A>C (p.Ser249=) c.701A>C (n.701A>C) | |
16 | g.67940264_67940266del | CA2576033448 | LCAT | c.961_963del (p.Ser321del) c.156-192_156-190del c.745_747del (p.Ser249del) c.699_701del (n.699_701del) | |
16 | g.67940265G>A | CA396375962 | LCAT | c.962C>T (p.Ser321Leu) c.156-191C>T c.746C>T (p.Ser249Leu) c.700C>T (n.700C>T) | COSMIC |
16 | g.67940265G>C | CA396375963 | LCAT | c.962C>G (p.Ser321Ter) c.156-191C>G c.746C>G (p.Ser249Ter) c.700C>G (n.700C>G) | |
16 | g.67940265G>T | CA396375964 | LCAT | c.962C>A (p.Ser321Ter) c.156-191C>A c.746C>A (p.Ser249Ter) c.700C>A (n.700C>A) | |
16 | g.67940266A>C | CA396375965 | LCAT | c.961T>G (p.Ser321Ala) c.156-192T>G c.745T>G (p.Ser249Ala) c.699T>G (n.699T>G) | |
16 | g.67940266A>G | CA396375966 | LCAT | c.961T>C (p.Ser321Pro) c.156-192T>C c.745T>C (p.Ser249Pro) c.699T>C (n.699T>C) | |
16 | g.67940266A>T | CA396375967 | LCAT | c.961T>A (p.Ser321Thr) c.156-192T>A c.745T>A (p.Ser249Thr) c.699T>A (n.699T>A) | |
16 | g.67940267C>A | CA396375968 | LCAT | c.960G>T (p.Gln320His) c.156-193G>T c.744G>T (p.Gln248His) c.698G>T (n.698G>T) | |
16 | g.67940267C>G | CA396375969 | LCAT | c.960G>C (p.Gln320His) c.156-193G>C c.744G>C (p.Gln248His) c.698G>C (n.698G>C) | |
16 | g.67940267C>T | CA496384112 | LCAT | c.960G>A (p.Gln320=) c.156-193G>A c.744G>A (p.Gln248=) c.698G>A (n.698G>A) | |
16 | g.67940268T>A | CA396375970 | LCAT | c.959A>T (p.Gln320Leu) c.156-194A>T c.743A>T (p.Gln248Leu) c.697A>T (n.697A>T) | |
16 | g.67940268T>C | CA396375971 | LCAT | c.959A>G (p.Gln320Arg) c.156-194A>G c.743A>G (p.Gln248Arg) c.697A>G (n.697A>G) | |
16 | g.67940268T>G | CA396375972 | LCAT | c.959A>C (p.Gln320Pro) c.156-194A>C c.743A>C (p.Gln248Pro) c.697A>C (n.697A>C) | |
16 | g.67940269G>A | CA396375973 | LCAT | c.958C>T (p.Gln320Ter) c.156-195C>T c.742C>T (p.Gln248Ter) c.696C>T (n.696C>T) | gnomAD v4 |
16 | g.67940269G>C | CA396375974 | LCAT | c.958C>G (p.Gln320Glu) c.156-195C>G c.742C>G (p.Gln248Glu) c.696C>G (n.696C>G) | |
16 | g.67940269G>T | CA396375975 | LCAT | c.958C>A (p.Gln320Lys) c.156-195C>A c.742C>A (p.Gln248Lys) c.696C>A (n.696C>A) | |
16 | g.67940270C>A | CA496384113 | LCAT | c.957G>T (p.Leu319=) c.156-196G>T c.741G>T (p.Leu247=) c.695G>T (n.695G>T) | |
16 | g.67940270C>G | CA496384114 | LCAT | c.957G>C (p.Leu319=) c.156-196G>C c.741G>C (p.Leu247=) c.695G>C (n.695G>C) | |
16 | g.67940270C>T | CA496384115 | LCAT | c.957G>A (p.Leu319=) c.156-196G>A c.741G>A (p.Leu247=) c.695G>A (n.695G>A) | gnomAD v4 |
16 | g.67940271A>C | CA396375978 | LCAT | c.956T>G (p.Leu319Arg) c.156-197T>G c.740T>G (p.Leu247Arg) c.694T>G (n.694T>G) | |
16 | g.67940271A>G | CA396375977 | LCAT | c.956T>C (p.Leu319Pro) c.156-197T>C c.740T>C (p.Leu247Pro) c.694T>C (n.694T>C) | dbSNP |
16 | g.67940271A>T | CA396375976 | LCAT | c.956T>A (p.Leu319Gln) c.156-197T>A c.740T>A (p.Leu247Gln) c.694T>A (n.694T>A) | |
16 | g.67940272G>A | CA496384116 | LCAT | c.955C>T (p.Leu319=) c.156-198C>T c.739C>T (p.Leu247=) c.693C>T (n.693C>T) | |
16 | g.67940272G>C | CA396375979 | LCAT | c.955C>G (p.Leu319Val) c.156-198C>G c.739C>G (p.Leu247Val) c.693C>G (n.693C>G) | |
16 | g.67940272G>T | CA396375980 | LCAT | c.955C>A (p.Leu319Met) c.156-198C>A c.739C>A (p.Leu247Met) c.693C>A (n.693C>A) | |
16 | g.67940273C>A | CA396375981 | LCAT | c.954G>T (p.Trp318Cys) c.156-199G>T c.738G>T (p.Trp246Cys) c.692G>T (n.692G>T) | |
16 | g.67940273C>G | CA396375982 | LCAT | c.954G>C (p.Trp318Cys) c.156-199G>C c.738G>C (p.Trp246Cys) c.692G>C (n.692G>C) | |
16 | g.67940273C>T | CA396375983 | LCAT | c.954G>A (p.Trp318Ter) c.156-199G>A c.738G>A (p.Trp246Ter) c.692G>A (n.692G>A) | |
16 | g.67940274C>A | CA396375984 | LCAT | c.953G>T (p.Trp318Leu) c.156-200G>T c.737G>T (p.Trp246Leu) c.691G>T (n.691G>T) | |
16 | g.67940274C>G | CA396375985 | LCAT | c.953G>C (p.Trp318Ser) c.156-200G>C c.737G>C (p.Trp246Ser) c.691G>C (n.691G>C) | |
16 | g.67940274C>T | CA396375986 | LCAT | c.953G>A (p.Trp318Ter) c.156-200G>A c.737G>A (p.Trp246Ter) c.691G>A (n.691G>A) | |
16 | g.67940275A>C | CA396375987 | LCAT | c.952T>G (p.Trp318Gly) c.156-201T>G c.736T>G (p.Trp246Gly) c.690T>G (n.690T>G) | |
16 | g.67940275A>G | CA396375988 | LCAT | c.952T>C (p.Trp318Arg) c.156-201T>C c.736T>C (p.Trp246Arg) c.690T>C (n.690T>C) | |
16 | g.67940275A>T | CA396375989 | LCAT | c.952T>A (p.Trp318Arg) c.156-201T>A c.736T>A (p.Trp246Arg) c.690T>A (n.690T>A) | |
16 | g.67940276C>A | CA396375990 | LCAT | c.951G>T (p.Met317Ile) c.156-202G>T c.735G>T (p.Met245Ile) c.689G>T (n.689G>T) | |
16 | g.67940276C= | CA2229563291 | LCAT | c.951G= (p.Met317=) c.156-202G= c.735G= (p.Met245=) c.689G= (n.689G=) | |
16 | g.67940276C>G | CA396375991 | LCAT | c.951G>C (p.Met317Ile) c.156-202G>C c.735G>C (p.Met245Ile) c.689G>C (n.689G>C) | |
16 | g.67940276C>T | CA116414 | LCAT | c.951G>A (p.Met317Ile) c.156-202G>A c.735G>A (p.Met245Ile) c.689G>A (n.689G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.67940277A= | CA2229563292 | LCAT | c.950T= (p.Met317=) c.156-203T= c.734T= (p.Met245=) c.688T= (n.688T=) | |
16 | g.67940277A>C | CA8120927 | LCAT | c.950T>G (p.Met317Arg) c.156-203T>G c.734T>G (p.Met245Arg) c.688T>G (n.688T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940277A>G | CA396375993 | LCAT | c.950T>C (p.Met317Thr) c.156-203T>C c.734T>C (p.Met245Thr) c.688T>C (n.688T>C) | gnomAD v4 |
16 | g.67940277A>T | CA396375992 | LCAT | c.950T>A (p.Met317Lys) c.156-203T>A c.734T>A (p.Met245Lys) c.688T>A (n.688T>A) | |
16 | g.67940278T>A | CA396375994 | LCAT | c.949A>T (p.Met317Leu) c.156-204A>T c.733A>T (p.Met245Leu) c.687A>T (n.687A>T) | |
16 | g.67940278T>C | CA396375995 | LCAT | c.949A>G (p.Met317Val) c.156-204A>G c.733A>G (p.Met245Val) c.687A>G (n.687A>G) | gnomAD v4 |
16 | g.67940278T>G | CA8120928 | LCAT | c.949A>C (p.Met317Leu) c.156-204A>C c.733A>C (p.Met245Leu) c.687A>C (n.687A>C) | dbSNP ExAC gnomAD v2 |
16 | g.67940278T= | CA2229563293 | LCAT | c.949A= (p.Met317=) c.156-204A= c.733A= (p.Met245=) c.687A= (n.687A=) | |
16 | g.67940279G>A | CA496384117 | LCAT | c.948C>T (p.Tyr316=) c.156-205C>T c.732C>T (p.Tyr244=) c.686C>T (n.686C>T) | gnomAD v4 |
16 | g.67940279G>C | CA396375996 | LCAT | c.948C>G (p.Tyr316Ter) c.156-205C>G c.732C>G (p.Tyr244Ter) c.686C>G (n.686C>G) | |
16 | g.67940279G>T | CA396375997 | LCAT | c.948C>A (p.Tyr316Ter) c.156-205C>A c.732C>A (p.Tyr244Ter) c.686C>A (n.686C>A) | |
16 | g.67940280T>A | CA396376000 | LCAT | c.947A>T (p.Tyr316Phe) c.156-206A>T c.731A>T (p.Tyr244Phe) c.685A>T (n.685A>T) | |
16 | g.67940280T>C | CA396375999 | LCAT | c.947A>G (p.Tyr316Cys) c.156-206A>G c.731A>G (p.Tyr244Cys) c.685A>G (n.685A>G) | |
16 | g.67940280T>G | CA396375998 | LCAT | c.947A>C (p.Tyr316Ser) c.156-206A>C c.731A>C (p.Tyr244Ser) c.685A>C (n.685A>C) | |
16 | g.67940281A>C | CA396376001 | LCAT | c.946T>G (p.Tyr316Asp) c.156-207T>G c.730T>G (p.Tyr244Asp) c.684T>G (n.684T>G) | |
16 | g.67940281A>G | CA396376002 | LCAT | c.946T>C (p.Tyr316His) c.156-207T>C c.730T>C (p.Tyr244His) c.684T>C (n.684T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940281A>T | CA396376003 | LCAT | c.946T>A (p.Tyr316Asn) c.156-207T>A c.730T>A (p.Tyr244Asn) c.684T>A (n.684T>A) |