Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18869241_18869249dup | CA632627053 | CERS1,GDF1 | c.*739_*747dup (n.*739_*747dup) c.470_478dup (p.Pro159_Glu160insAlaAlaPro) c.*1331_*1339dup (n.*1331_*1339dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869241_18869246dup | CA994235820 | CERS1,GDF1 | c.*740_*745dup (n.*740_*745dup) c.471_476dup (p.Pro159_Glu160insAlaPro) c.*1332_*1337dup (n.*1332_*1337dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869245_18869247dup | CA2583634788 | CERS1,GDF1 | c.*740_*742dup (n.*740_*742dup) c.471_473dup (p.Ala158_Pro159insAla) c.*1332_*1334dup (n.*1332_*1334dup) | gnomAD v4 |
19 | g.18869245_18869250dup | CA2583634789 | CERS1,GDF1 | c.*737_*742dup (n.*737_*742dup) c.468_473dup (p.Ala158_Pro159insAlaAla) c.*1329_*1334dup (n.*1329_*1334dup) | gnomAD v4 |
19 | g.18869245_18869253dup | CA632627054 | CERS1,GDF1 | c.*734_*742dup (n.*734_*742dup) c.465_473dup (p.Ala158_Pro159insAlaAlaAla) c.*1326_*1334dup (n.*1326_*1334dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869245T>A | CA506118726 | CERS1,GDF1 | c.*740A>T (n.*740A>T) c.471A>T (p.Ala157=) c.*1332A>T (n.*1332A>T) | |
19 | g.18869245T>C | CA506118727 | CERS1,GDF1 | c.*740A>G (n.*740A>G) c.471A>G (p.Ala157=) c.*1332A>G (n.*1332A>G) | dbSNP gnomAD v4 |
19 | g.18869245T>G | CA506118728 | CERS1,GDF1 | c.*740A>C (n.*740A>C) c.471A>C (p.Ala157=) c.*1332A>C (n.*1332A>C) | |
19 | g.18869245T= | CA2326567785 | CERS1,GDF1 | c.*740A= (n.*740A=) c.471A= (p.Ala157=) c.*1332A= (n.*1332A=) | |
19 | g.18869245_18869254delinsTGCCGCCGCC | CA2326567784 | CERS1,GDF1 | c.*731_*740delinsGGCGGCGGCA (n.*731_*740delinsGGCGGCGGCA) c.462_471delinsGGCGGCGGCA (p.Ala154=) c.*1323_*1332delinsGGCGGCGGCA (n.*1323_*1332delinsGGCGGCGGCA) | |
19 | g.18869245_18869246insACC | CA2583634790 | CERS1,GDF1 | c.*739_*740insGGT (n.*739_*740insGGT) c.470_471insGGT (p.Ala157_Ala158insVal) c.*1331_*1332insGGT (n.*1331_*1332insGGT) | gnomAD v4 |
19 | g.18869246G>A | CA404863212 | CERS1,GDF1 | c.*739C>T (n.*739C>T) c.470C>T (p.Ala157Val) c.*1331C>T (n.*1331C>T) | gnomAD v4 |
19 | g.18869246G>C | CA404863211 | CERS1,GDF1 | c.*739C>G (n.*739C>G) c.470C>G (p.Ala157Gly) c.*1331C>G (n.*1331C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869246G= | CA2326567786 | CERS1,GDF1 | c.*739C= (n.*739C=) c.470C= (p.Ala157=) c.*1331C= (n.*1331C=) | |
19 | g.18869246G>T | CA404863213 | CERS1,GDF1 | c.*739C>A (n.*739C>A) c.470C>A (p.Ala157Glu) c.*1331C>A (n.*1331C>A) | |
19 | g.18869260_18869262dup | CA203599 | CERS1,GDF1 | c.*737_*739dup (n.*737_*739dup) c.468_470dup (p.Ala157_Ala158insAla) c.*1329_*1331dup (n.*1329_*1331dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.18869257_18869262dup | CA920074481 | CERS1,GDF1 | c.*734_*739dup (n.*734_*739dup) c.465_470dup (p.Ala157_Ala158insAlaAla) c.*1326_*1331dup (n.*1326_*1331dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869254_18869262dup | CA632627055 | CERS1,GDF1 | c.*731_*739dup (n.*731_*739dup) c.462_470dup (p.Ala157_Ala158insAlaAlaAla) c.*1323_*1331dup (n.*1323_*1331dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869251_18869262dup | CA2583634791 | CERS1,GDF1 | c.*728_*739dup (n.*728_*739dup) c.459_470dup (p.Ala157_Ala158insAlaAlaAlaAla) c.*1320_*1331dup (n.*1320_*1331dup) | gnomAD v4 |
19 | g.18869260_18869262del | CA9317926 | CERS1,GDF1 | c.*737_*739del (n.*737_*739del) c.468_470del (p.Ala157del) c.*1329_*1331del (n.*1329_*1331del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869257_18869262del | CA632627056 | CERS1,GDF1 | c.*734_*739del (n.*734_*739del) c.465_470del (p.Ala156_Ala157del) c.*1326_*1331del (n.*1326_*1331del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869254_18869262del | CA9317927 | CERS1,GDF1 | c.*731_*739del (n.*731_*739del) c.462_470del (p.Ala155_Ala157del) c.*1323_*1331del (n.*1323_*1331del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869247C>A | CA404863214 | CERS1,GDF1 | c.*738G>T (n.*738G>T) c.469G>T (p.Ala157Ser) c.*1330G>T (n.*1330G>T) | gnomAD v4 |
19 | g.18869247C>G | CA404863215 | CERS1,GDF1 | c.*738G>C (n.*738G>C) c.469G>C (p.Ala157Pro) c.*1330G>C (n.*1330G>C) | |
19 | g.18869247C>T | CA404863216 | CERS1,GDF1 | c.*738G>A (n.*738G>A) c.469G>A (p.Ala157Thr) c.*1330G>A (n.*1330G>A) | gnomAD v4 |
19 | g.18869247_18869248insGCC | CA2499225424 | CERS1,GDF1 | c.*738_*739insGCG (n.*738_*739insGCG) c.469_470insGCG (p.Ala156_Ala157insGly) c.*1330_*1331insGCG (n.*1330_*1331insGCG) | ClinVar dbSNP |
19 | g.18869248C>A | CA506118741 | CERS1,GDF1 | c.*737G>T (n.*737G>T) c.468G>T (p.Ala156=) c.*1329G>T (n.*1329G>T) | gnomAD v4 |
19 | g.18869248C= | CA2326567787 | CERS1,GDF1 | c.*737G= (n.*737G=) c.468G= (p.Ala156=) c.*1329G= (n.*1329G=) | |
19 | g.18869248C>G | CA506118743 | CERS1,GDF1 | c.*737G>C (n.*737G>C) c.468G>C (p.Ala156=) c.*1329G>C (n.*1329G>C) | |
19 | g.18869248C>T | CA506118744 | CERS1,GDF1 | c.*737G>A (n.*737G>A) c.468G>A (p.Ala156=) c.*1329G>A (n.*1329G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869249G>A | CA404863218 | CERS1,GDF1 | c.*736C>T (n.*736C>T) c.467C>T (p.Ala156Val) c.*1328C>T (n.*1328C>T) | gnomAD v4 |
19 | g.18869249G>C | CA9317928 | CERS1,GDF1 | c.*736C>G (n.*736C>G) c.467C>G (p.Ala156Gly) c.*1328C>G (n.*1328C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869249G= | CA2326567788 | CERS1,GDF1 | c.*736C= (n.*736C=) c.467C= (p.Ala156=) c.*1328C= (n.*1328C=) | |
19 | g.18869249G>T | CA404863217 | CERS1,GDF1 | c.*736C>A (n.*736C>A) c.467C>A (p.Ala156Glu) c.*1328C>A (n.*1328C>A) | |
19 | g.18869250C>A | CA404863219 | CERS1,GDF1 | c.*735G>T (n.*735G>T) c.466G>T (p.Ala156Ser) c.*1327G>T (n.*1327G>T) | gnomAD v4 |
19 | g.18869250C>G | CA404863220 | CERS1,GDF1 | c.*735G>C (n.*735G>C) c.466G>C (p.Ala156Pro) c.*1327G>C (n.*1327G>C) | |
19 | g.18869250C>T | CA404863221 | CERS1,GDF1 | c.*735G>A (n.*735G>A) c.466G>A (p.Ala156Thr) c.*1327G>A (n.*1327G>A) | gnomAD v4 |
19 | g.18869251_18869252insCCC | CA2735826574 | CERS1,GDF1 | c.*735_*736insGGG (n.*735_*736insGGG) c.466_467insGGG (p.Ala155_Ala156insGly) c.*1327_*1328insGGG (n.*1327_*1328insGGG) | dbSNP |
19 | g.18869251_18869252insTCC | CA2735826461 | CERS1,GDF1 | c.*735_*736insAGG (n.*735_*736insAGG) c.466_467insAGG (p.Ala155_Ala156insGlu) c.*1327_*1328insAGG (n.*1327_*1328insAGG) | dbSNP |
19 | g.18869251C>A | CA506118751 | CERS1,GDF1 | c.*734G>T (n.*734G>T) c.465G>T (p.Ala155=) c.*1326G>T (n.*1326G>T) | |
19 | g.18869251C= | CA2326567789 | CERS1,GDF1 | c.*734G= (n.*734G=) c.465G= (p.Ala155=) c.*1326G= (n.*1326G=) | |
19 | g.18869251C>G | CA506118747 | CERS1,GDF1 | c.*734G>C (n.*734G>C) c.465G>C (p.Ala155=) c.*1326G>C (n.*1326G>C) | gnomAD v4 |
19 | g.18869251C>T | CA506118749 | CERS1,GDF1 | c.*734G>A (n.*734G>A) c.465G>A (p.Ala155=) c.*1326G>A (n.*1326G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869252G>A | CA306231798 | CERS1,GDF1 | c.*733C>T (n.*733C>T) c.464C>T (p.Ala155Val) c.*1325C>T (n.*1325C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869252G>C | CA404863222 | CERS1,GDF1 | c.*733C>G (n.*733C>G) c.464C>G (p.Ala155Gly) c.*1325C>G (n.*1325C>G) | |
19 | g.18869252G= | CA2326567790 | CERS1,GDF1 | c.*733C= (n.*733C=) c.464C= (p.Ala155=) c.*1325C= (n.*1325C=) | |
19 | g.18869252G>T | CA404863223 | CERS1,GDF1 | c.*733C>A (n.*733C>A) c.464C>A (p.Ala155Glu) c.*1325C>A (n.*1325C>A) | |
19 | g.18869253C>A | CA404863224 | CERS1,GDF1 | c.*732G>T (n.*732G>T) c.463G>T (p.Ala155Ser) c.*1324G>T (n.*1324G>T) | gnomAD v4 |
19 | g.18869253C>G | CA404863226 | CERS1,GDF1 | c.*732G>C (n.*732G>C) c.463G>C (p.Ala155Pro) c.*1324G>C (n.*1324G>C) | |
19 | g.18869253C>T | CA404863225 | CERS1,GDF1 | c.*732G>A (n.*732G>A) c.463G>A (p.Ala155Thr) c.*1324G>A (n.*1324G>A) |