Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.18869245_18869254delinsTGCCGCCGCC | CA2326567784 | CERS1,GDF1 | c.*731_*740delinsGGCGGCGGCA (n.*731_*740delinsGGCGGCGGCA) c.462_471delinsGGCGGCGGCA (p.Ala154=) c.*1323_*1332delinsGGCGGCGGCA (n.*1323_*1332delinsGGCGGCGGCA) | |
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.18869250_18869251insGGC | CA2842543604 | CERS1,GDF1 | c.*736_*737insCGC (n.*736_*737insCGC) c.467_468insCGC (p.Ala156_Ala157insAla) c.*1328_*1329insCGC (n.*1328_*1329insCGC) | |
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) | |
19 | g.18869254C>A | CA506118757 | CERS1,GDF1 | c.*731G>T (n.*731G>T) c.462G>T (p.Ala154=) c.*1323G>T (n.*1323G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869254C= | CA2326567791 | CERS1,GDF1 | c.*731G= (n.*731G=) c.462G= (p.Ala154=) c.*1323G= (n.*1323G=) | |
19 | g.18869254C>G | CA506118758 | CERS1,GDF1 | c.*731G>C (n.*731G>C) c.462G>C (p.Ala154=) c.*1323G>C (n.*1323G>C) | |
19 | g.18869254C>T | CA506118759 | CERS1,GDF1 | c.*731G>A (n.*731G>A) c.462G>A (p.Ala154=) c.*1323G>A (n.*1323G>A) | gnomAD v4 |
19 | g.18869255G>A | CA404863227 | CERS1,GDF1 | c.*730C>T (n.*730C>T) c.461C>T (p.Ala154Val) c.*1322C>T (n.*1322C>T) | gnomAD v4 |
19 | g.18869255G>C | CA404863228 | CERS1,GDF1 | c.*730C>G (n.*730C>G) c.461C>G (p.Ala154Gly) c.*1322C>G (n.*1322C>G) | |
19 | g.18869255G>T | CA404863229 | CERS1,GDF1 | c.*730C>A (n.*730C>A) c.461C>A (p.Ala154Glu) c.*1322C>A (n.*1322C>A) | gnomAD v4 |
19 | g.18869256C>A | CA404863230 | CERS1,GDF1 | c.*729G>T (n.*729G>T) c.460G>T (p.Ala154Ser) c.*1321G>T (n.*1321G>T) | |
19 | g.18869256C>G | CA404863231 | CERS1,GDF1 | c.*729G>C (n.*729G>C) c.460G>C (p.Ala154Pro) c.*1321G>C (n.*1321G>C) | |
19 | g.18869256C>T | CA404863232 | CERS1,GDF1 | c.*729G>A (n.*729G>A) c.460G>A (p.Ala154Thr) c.*1321G>A (n.*1321G>A) | |
19 | g.18869257_18869258insACC | CA2735826591 | CERS1,GDF1 | c.*729_*730insTGG (n.*729_*730insTGG) c.460_461insTGG (p.Ala153_Ala154insVal) c.*1321_*1322insTGG (n.*1321_*1322insTGG) | dbSNP |
19 | g.18869257C>A | CA506118760 | CERS1,GDF1 | c.*728G>T (n.*728G>T) c.459G>T (p.Ala153=) c.*1320G>T (n.*1320G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869257C= | CA2326567792 | CERS1,GDF1 | c.*728G= (n.*728G=) c.459G= (p.Ala153=) c.*1320G= (n.*1320G=) | |
19 | g.18869257C>G | CA506118762 | CERS1,GDF1 | c.*728G>C (n.*728G>C) c.459G>C (p.Ala153=) c.*1320G>C (n.*1320G>C) | |
19 | g.18869257C>T | CA506118763 | CERS1,GDF1 | c.*728G>A (n.*728G>A) c.459G>A (p.Ala153=) c.*1320G>A (n.*1320G>A) | gnomAD v4 |
19 | g.18869258_18869259del | CA2813841593 | CERS1,GDF1 | c.*727_*728del (n.*727_*728del) c.458_459del (p.Ala153GlyfsTer?) c.*1319_*1320del (n.*1319_*1320del) | |
19 | g.18869258del | CA2583634793 | CERS1,GDF1 | c.*727del (n.*727del) c.458del (p.Ala153GlyfsTer13) c.*1319del (n.*1319del) | gnomAD v4 |
19 | g.18869258G>A | CA404863233 | CERS1,GDF1 | c.*727C>T (n.*727C>T) c.458C>T (p.Ala153Val) c.*1319C>T (n.*1319C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869258G>C | CA404863234 | CERS1,GDF1 | c.*727C>G (n.*727C>G) c.458C>G (p.Ala153Gly) c.*1319C>G (n.*1319C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869258G= | CA2326567793 | CERS1,GDF1 | c.*727C= (n.*727C=) c.458C= (p.Ala153=) c.*1319C= (n.*1319C=) | |
19 | g.18869258G>T | CA404863235 | CERS1,GDF1 | c.*727C>A (n.*727C>A) c.458C>A (p.Ala153Glu) c.*1319C>A (n.*1319C>A) | |
19 | g.18869258_18869263dup | CA2583634792 | CERS1,GDF1 | c.*722_*727dup (n.*722_*727dup) c.453_458dup (p.Ala153_Ala154insAlaAla) c.*1314_*1319dup (n.*1314_*1319dup) | gnomAD v4 |
19 | g.18869259C>A | CA404863236 | CERS1,GDF1 | c.*726G>T (n.*726G>T) c.457G>T (p.Ala153Ser) c.*1318G>T (n.*1318G>T) | gnomAD v4 |
19 | g.18869259C= | CA2326567794 | CERS1,GDF1 | c.*726G= (n.*726G=) c.457G= (p.Ala153=) c.*1318G= (n.*1318G=) | |
19 | g.18869259C>G | CA404863237 | CERS1,GDF1 | c.*726G>C (n.*726G>C) c.457G>C (p.Ala153Pro) c.*1318G>C (n.*1318G>C) | |
19 | g.18869259C>T | CA404863238 | CERS1,GDF1 | c.*726G>A (n.*726G>A) c.457G>A (p.Ala153Thr) c.*1318G>A (n.*1318G>A) | gnomAD v4 |
19 | g.18869260C>A | CA506118768 | CERS1,GDF1 | c.*725G>T (n.*725G>T) c.456G>T (p.Ala152=) c.*1317G>T (n.*1317G>T) | gnomAD v4 |
19 | g.18869260C= | CA2326567795 | CERS1,GDF1 | c.*725G= (n.*725G=) c.456G= (p.Ala152=) c.*1317G= (n.*1317G=) | |
19 | g.18869260C>G | CA506118772 | CERS1,GDF1 | c.*725G>C (n.*725G>C) c.456G>C (p.Ala152=) c.*1317G>C (n.*1317G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869260C>T | CA506118770 | CERS1,GDF1 | c.*725G>A (n.*725G>A) c.456G>A (p.Ala152=) c.*1317G>A (n.*1317G>A) | dbSNP gnomAD v4 |
19 | g.18869262_18869263insCTTCGC | CA306231805 | CERS1,GDF1 | c.*725_*726insAAGGCG (n.*725_*726insAAGGCG) c.456_457insAAGGCG (p.Ala152_Ala153insLysAla) c.*1317_*1318insAAGGCG (n.*1317_*1318insAAGGCG) | dbSNP |
19 | g.18869262_18869263del | CA2583634794 | CERS1,GDF1 | c.*724_*725del (n.*724_*725del) c.455_456del (p.Ala152GlyfsTer?) c.*1316_*1317del (n.*1316_*1317del) | gnomAD v4 |
19 | g.18869261G>A | CA404863240 | CERS1,GDF1 | c.*724C>T (n.*724C>T) c.455C>T (p.Ala152Val) c.*1316C>T (n.*1316C>T) | gnomAD v4 |
19 | g.18869261G>C | CA306231810 | CERS1,GDF1 | c.*724C>G (n.*724C>G) c.455C>G (p.Ala152Gly) c.*1316C>G (n.*1316C>G) | dbSNP |
19 | g.18869261G= | CA2326567796 | CERS1,GDF1 | c.*724C= (n.*724C=) c.455C= (p.Ala152=) c.*1316C= (n.*1316C=) | |
19 | g.18869261G>T | CA404863239 | CERS1,GDF1 | c.*724C>A (n.*724C>A) c.455C>A (p.Ala152Glu) c.*1316C>A (n.*1316C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869263_18869272del | CA2583634795 | CERS1,GDF1 | c.*715_*724del (n.*715_*724del) c.446_455del (p.Leu149ArgfsTer14) c.*1307_*1316del (n.*1307_*1316del) | gnomAD v4 |
19 | g.18869262C>A | CA404863241 | CERS1,GDF1 | c.*723G>T (n.*723G>T) c.454G>T (p.Ala152Ser) c.*1315G>T (n.*1315G>T) | gnomAD v4 |
19 | g.18869262C= | CA2326567797 | CERS1,GDF1 | c.*723G= (n.*723G=) c.454G= (p.Ala152=) c.*1315G= (n.*1315G=) | |
19 | g.18869262C>G | CA404863242 | CERS1,GDF1 | c.*723G>C (n.*723G>C) c.454G>C (p.Ala152Pro) c.*1315G>C (n.*1315G>C) | |
19 | g.18869262C>T | CA404863243 | CERS1,GDF1 | c.*723G>A (n.*723G>A) c.454G>A (p.Ala152Thr) c.*1315G>A (n.*1315G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869263G>A | CA506118775 | CERS1,GDF1 | c.*722C>T (n.*722C>T) c.453C>T (p.Phe151=) c.*1314C>T (n.*1314C>T) | gnomAD v4 |
19 | g.18869263G>C | CA404863244 | CERS1,GDF1 | c.*722C>G (n.*722C>G) c.453C>G (p.Phe151Leu) c.*1314C>G (n.*1314C>G) | dbSNP gnomAD v4 |
19 | g.18869263G= | CA2326567798 | CERS1,GDF1 | c.*722C= (n.*722C=) c.453C= (p.Phe151=) c.*1314C= (n.*1314C=) | |
19 | g.18869263G>T | CA404863245 | CERS1,GDF1 | c.*722C>A (n.*722C>A) c.453C>A (p.Phe151Leu) c.*1314C>A (n.*1314C>A) | gnomAD v4 |
19 | g.18869264A>C | CA404863246 | CERS1,GDF1 | c.*721T>G (n.*721T>G) c.452T>G (p.Phe151Cys) c.*1313T>G (n.*1313T>G) | gnomAD v4 |
19 | g.18869264A>G | CA404863247 | CERS1,GDF1 | c.*721T>C (n.*721T>C) c.452T>C (p.Phe151Ser) c.*1313T>C (n.*1313T>C) | |
19 | g.18869264A>T | CA404863248 | CERS1,GDF1 | c.*721T>A (n.*721T>A) c.452T>A (p.Phe151Tyr) c.*1313T>A (n.*1313T>A) | gnomAD v4 |
19 | g.18869265A>C | CA404863249 | CERS1,GDF1 | c.*720T>G (n.*720T>G) c.451T>G (p.Phe151Val) c.*1312T>G (n.*1312T>G) | |
19 | g.18869265A>G | CA404863250 | CERS1,GDF1 | c.*720T>C (n.*720T>C) c.451T>C (p.Phe151Leu) c.*1312T>C (n.*1312T>C) | gnomAD v4 |
19 | g.18869265A>T | CA404863251 | CERS1,GDF1 | c.*720T>A (n.*720T>A) c.451T>A (p.Phe151Ile) c.*1312T>A (n.*1312T>A) | |
19 | g.18869266A>C | CA506118778 | CERS1,GDF1 | c.*719T>G (n.*719T>G) c.450T>G (p.Arg150=) c.*1311T>G (n.*1311T>G) | |
19 | g.18869266A>G | CA506118780 | CERS1,GDF1 | c.*719T>C (n.*719T>C) c.450T>C (p.Arg150=) c.*1311T>C (n.*1311T>C) | gnomAD v4 |
19 | g.18869266A>T | CA506118779 | CERS1,GDF1 | c.*719T>A (n.*719T>A) c.450T>A (p.Arg150=) c.*1311T>A (n.*1311T>A) | |
19 | g.18869267del | CA2583634796 | CERS1,GDF1 | c.*718del (n.*718del) c.449del (p.Arg150LeufsTer16) c.*1310del (n.*1310del) | gnomAD v4 |
19 | g.18869267C>A | CA404863254 | CERS1,GDF1 | c.*718G>T (n.*718G>T) c.449G>T (p.Arg150Leu) c.*1310G>T (n.*1310G>T) | dbSNP gnomAD v4 |
19 | g.18869267C= | CA2326567799 | CERS1,GDF1 | c.*718G= (n.*718G=) c.449G= (p.Arg150=) c.*1310G= (n.*1310G=) | |
19 | g.18869267C>G | CA404863253 | CERS1,GDF1 | c.*718G>C (n.*718G>C) c.449G>C (p.Arg150Pro) c.*1310G>C (n.*1310G>C) | gnomAD v4 |
19 | g.18869267C>T | CA404863252 | CERS1,GDF1 | c.*718G>A (n.*718G>A) c.449G>A (p.Arg150His) c.*1310G>A (n.*1310G>A) | gnomAD v4 |
19 | g.18869268G>A | CA404863256 | CERS1,GDF1 | c.*717C>T (n.*717C>T) c.448C>T (p.Arg150Cys) c.*1309C>T (n.*1309C>T) | gnomAD v4 |
19 | g.18869268G>C | CA404863255 | CERS1,GDF1 | c.*717C>G (n.*717C>G) c.448C>G (p.Arg150Gly) c.*1309C>G (n.*1309C>G) | |
19 | g.18869268G>T | CA404863257 | CERS1,GDF1 | c.*717C>A (n.*717C>A) c.448C>A (p.Arg150Ser) c.*1309C>A (n.*1309C>A) | |
19 | g.18869269C>A | CA506118784 | CERS1,GDF1 | c.*716G>T (n.*716G>T) c.447G>T (p.Leu149=) c.*1308G>T (n.*1308G>T) | dbSNP gnomAD v4 |
19 | g.18869269C= | CA2326567800 | CERS1,GDF1 | c.*716G= (n.*716G=) c.447G= (p.Leu149=) c.*1308G= (n.*1308G=) | |
19 | g.18869269C>G | CA506118785 | CERS1,GDF1 | c.*716G>C (n.*716G>C) c.447G>C (p.Leu149=) c.*1308G>C (n.*1308G>C) | |
19 | g.18869269C>T | CA506118786 | CERS1,GDF1 | c.*716G>A (n.*716G>A) c.447G>A (p.Leu149=) c.*1308G>A (n.*1308G>A) | |
19 | g.18869270A>C | CA404863258 | CERS1,GDF1 | c.*715T>G (n.*715T>G) c.446T>G (p.Leu149Arg) c.*1307T>G (n.*1307T>G) | |
19 | g.18869270A>G | CA404863259 | CERS1,GDF1 | c.*715T>C (n.*715T>C) c.446T>C (p.Leu149Pro) c.*1307T>C (n.*1307T>C) | gnomAD v4 |
19 | g.18869270A>T | CA404863260 | CERS1,GDF1 | c.*715T>A (n.*715T>A) c.446T>A (p.Leu149Gln) c.*1307T>A (n.*1307T>A) | |
19 | g.18869270_18869271insTCGAAACGCCGAAGCCGCTTCCTCGGCGCACCGCGGGCGAAATGCTGGT | CA2741617923 | CERS1,GDF1 | c.*714_*715insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (n.*714_*715insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA) c.445_446insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (p.Leu149HisfsTer?) c.*1306_*1307insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (n.*1306_*1307insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA) | |
19 | g.18869271G>A | CA506118787 | CERS1,GDF1 | c.*714C>T (n.*714C>T) c.445C>T (p.Leu149=) c.*1306C>T (n.*1306C>T) | gnomAD v4 |
19 | g.18869271G>C | CA404863261 | CERS1,GDF1 | c.*714C>G (n.*714C>G) c.445C>G (p.Leu149Val) c.*1306C>G (n.*1306C>G) | |
19 | g.18869271G>T | CA404863262 | CERS1,GDF1 | c.*714C>A (n.*714C>A) c.445C>A (p.Leu149Met) c.*1306C>A (n.*1306C>A) | gnomAD v4 |
19 | g.18869272C>A | CA404863263 | CERS1,GDF1 | c.*713G>T (n.*713G>T) c.444G>T (p.Glu148Asp) c.*1305G>T (n.*1305G>T) | dbSNP gnomAD v4 |
19 | g.18869272C= | CA2326567801 | CERS1,GDF1 | c.*713G= (n.*713G=) c.444G= (p.Glu148=) c.*1305G= (n.*1305G=) | |
19 | g.18869272C>G | CA404863264 | CERS1,GDF1 | c.*713G>C (n.*713G>C) c.444G>C (p.Glu148Asp) c.*1305G>C (n.*1305G>C) | |
19 | g.18869272C>T | CA506118792 | CERS1,GDF1 | c.*713G>A (n.*713G>A) c.444G>A (p.Glu148=) c.*1305G>A (n.*1305G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869273T>A | CA404863265 | CERS1,GDF1 | c.*712A>T (n.*712A>T) c.443A>T (p.Glu148Val) c.*1304A>T (n.*1304A>T) | |
19 | g.18869273T>C | CA404863266 | CERS1,GDF1 | c.*712A>G (n.*712A>G) c.443A>G (p.Glu148Gly) c.*1304A>G (n.*1304A>G) | gnomAD v4 |
19 | g.18869273T>G | CA404863267 | CERS1,GDF1 | c.*712A>C (n.*712A>C) c.443A>C (p.Glu148Ala) c.*1304A>C (n.*1304A>C) | |
19 | g.18869274C>A | CA404863268 | CERS1,GDF1 | c.*711G>T (n.*711G>T) c.442G>T (p.Glu148Ter) c.*1303G>T (n.*1303G>T) | gnomAD v4 |
19 | g.18869274C>G | CA404863269 | CERS1,GDF1 | c.*711G>C (n.*711G>C) c.442G>C (p.Glu148Gln) c.*1303G>C (n.*1303G>C) | |
19 | g.18869274C>T | CA404863270 | CERS1,GDF1 | c.*711G>A (n.*711G>A) c.442G>A (p.Glu148Lys) c.*1303G>A (n.*1303G>A) | |
19 | g.18869275C>A | CA506118797 | CERS1,GDF1 | c.*710G>T (n.*710G>T) c.441G>T (p.Leu147=) c.*1302G>T (n.*1302G>T) | |
19 | g.18869275C= | CA2326567802 | CERS1,GDF1 | c.*710G= (n.*710G=) c.441G= (p.Leu147=) c.*1302G= (n.*1302G=) | |
19 | g.18869275C>G | CA506118798 | CERS1,GDF1 | c.*710G>C (n.*710G>C) c.441G>C (p.Leu147=) c.*1302G>C (n.*1302G>C) | gnomAD v4 |
19 | g.18869275C>T | CA506118800 | CERS1,GDF1 | c.*710G>A (n.*710G>A) c.441G>A (p.Leu147=) c.*1302G>A (n.*1302G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869276A>C | CA404863273 | CERS1,GDF1 | c.*709T>G (n.*709T>G) c.440T>G (p.Leu147Arg) c.*1301T>G (n.*1301T>G) | |
19 | g.18869276A>G | CA404863271 | CERS1,GDF1 | c.*709T>C (n.*709T>C) c.440T>C (p.Leu147Pro) c.*1301T>C (n.*1301T>C) | gnomAD v4 |
19 | g.18869276A>T | CA404863272 | CERS1,GDF1 | c.*709T>A (n.*709T>A) c.440T>A (p.Leu147Gln) c.*1301T>A (n.*1301T>A) | |
19 | g.18869277G>A | CA506118804 | CERS1,GDF1 | c.*708C>T (n.*708C>T) c.439C>T (p.Leu147=) c.*1300C>T (n.*1300C>T) | |
19 | g.18869277G>C | CA404863274 | CERS1,GDF1 | c.*708C>G (n.*708C>G) c.439C>G (p.Leu147Val) c.*1300C>G (n.*1300C>G) | |
19 | g.18869277G>T | CA404863275 | CERS1,GDF1 | c.*708C>A (n.*708C>A) c.439C>A (p.Leu147Met) c.*1300C>A (n.*1300C>A) | gnomAD v4 |
19 | g.18869278G>A | CA506118808 | CERS1,GDF1 | c.*707C>T (n.*707C>T) c.438C>T (p.Arg146=) c.*1299C>T (n.*1299C>T) | gnomAD v4 |
19 | g.18869278G>C | CA506118809 | CERS1,GDF1 | c.*707C>G (n.*707C>G) c.438C>G (p.Arg146=) c.*1299C>G (n.*1299C>G) | |
19 | g.18869278G>T | CA506118811 | CERS1,GDF1 | c.*707C>A (n.*707C>A) c.438C>A (p.Arg146=) c.*1299C>A (n.*1299C>A) | |
19 | g.18869279C>A | CA9317929 | CERS1,GDF1 | c.*706G>T (n.*706G>T) c.437G>T (p.Arg146Leu) c.*1298G>T (n.*1298G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869279C= | CA2326567803 | CERS1,GDF1 | c.*706G= (n.*706G=) c.437G= (p.Arg146=) c.*1298G= (n.*1298G=) | |
19 | g.18869279C>G | CA404863276 | CERS1,GDF1 | c.*706G>C (n.*706G>C) c.437G>C (p.Arg146Pro) c.*1298G>C (n.*1298G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869279C>T | CA404863277 | CERS1,GDF1 | c.*706G>A (n.*706G>A) c.437G>A (p.Arg146His) c.*1298G>A (n.*1298G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.18869280G>A | CA404863278 | CERS1,GDF1 | c.*705C>T (n.*705C>T) c.436C>T (p.Arg146Cys) c.*1297C>T (n.*1297C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869280G>C | CA404863279 | CERS1,GDF1 | c.*705C>G (n.*705C>G) c.436C>G (p.Arg146Gly) c.*1297C>G (n.*1297C>G) | |
19 | g.18869280G= | CA2326567804 | CERS1,GDF1 | c.*705C= (n.*705C=) c.436C= (p.Arg146=) c.*1297C= (n.*1297C=) | |
19 | g.18869280G>T | CA404863280 | CERS1,GDF1 | c.*705C>A (n.*705C>A) c.436C>A (p.Arg146Ser) c.*1297C>A (n.*1297C>A) | |
19 | g.18869282del | CA2583634797 | CERS1,GDF1 | c.*705del (n.*705del) c.436del (p.Arg146AlafsTer20) c.*1297del (n.*1297del) | gnomAD v4 |
19 | g.18869281G>A | CA506118816 | CERS1,GDF1 | c.*704C>T (n.*704C>T) c.435C>T (p.Ala145=) c.*1296C>T (n.*1296C>T) | dbSNP gnomAD v4 |
19 | g.18869281G>C | CA506118817 | CERS1,GDF1 | c.*704C>G (n.*704C>G) c.435C>G (p.Ala145=) c.*1296C>G (n.*1296C>G) | |
19 | g.18869281G= | CA2326567805 | CERS1,GDF1 | c.*704C= (n.*704C=) c.435C= (p.Ala145=) c.*1296C= (n.*1296C=) | |
19 | g.18869281G>T | CA506118815 | CERS1,GDF1 | c.*704C>A (n.*704C>A) c.435C>A (p.Ala145=) c.*1296C>A (n.*1296C>A) | gnomAD v4 |
19 | g.18869282G>A | CA404863281 | CERS1,GDF1 | c.*703C>T (n.*703C>T) c.434C>T (p.Ala145Val) c.*1295C>T (n.*1295C>T) | gnomAD v4 |
19 | g.18869282G>C | CA404863282 | CERS1,GDF1 | c.*703C>G (n.*703C>G) c.434C>G (p.Ala145Gly) c.*1295C>G (n.*1295C>G) | |
19 | g.18869282G>T | CA404863283 | CERS1,GDF1 | c.*703C>A (n.*703C>A) c.434C>A (p.Ala145Asp) c.*1295C>A (n.*1295C>A) | gnomAD v4 |
19 | g.18869283C>A | CA404863286 | CERS1,GDF1 | c.*702G>T (n.*702G>T) c.433G>T (p.Ala145Ser) c.*1294G>T (n.*1294G>T) | dbSNP gnomAD v4 |
19 | g.18869283C= | CA2326567806 | CERS1,GDF1 | c.*702G= (n.*702G=) c.433G= (p.Ala145=) c.*1294G= (n.*1294G=) | |
19 | g.18869283C>G | CA404863285 | CERS1,GDF1 | c.*702G>C (n.*702G>C) c.433G>C (p.Ala145Pro) c.*1294G>C (n.*1294G>C) | |
19 | g.18869283C>T | CA404863284 | CERS1,GDF1 | c.*702G>A (n.*702G>A) c.433G>A (p.Ala145Thr) c.*1294G>A (n.*1294G>A) | gnomAD v4 |
19 | g.18869284C>A | CA506118827 | CERS1,GDF1 | c.*701G>T (n.*701G>T) c.432G>T (p.Arg144=) c.*1293G>T (n.*1293G>T) | |
19 | g.18869284C= | CA2326567807 | CERS1,GDF1 | c.*701G= (n.*701G=) c.432G= (p.Arg144=) c.*1293G= (n.*1293G=) | |
19 | g.18869284C>G | CA506118823 | CERS1,GDF1 | c.*701G>C (n.*701G>C) c.432G>C (p.Arg144=) c.*1293G>C (n.*1293G>C) | |
19 | g.18869284C>T | CA506118824 | CERS1,GDF1 | c.*701G>A (n.*701G>A) c.432G>A (p.Arg144=) c.*1293G>A (n.*1293G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869285C>A | CA404863287 | CERS1,GDF1 | c.*700G>T (n.*700G>T) c.431G>T (p.Arg144Leu) c.*1292G>T (n.*1292G>T) | dbSNP gnomAD v4 |
19 | g.18869285C= | CA2326567808 | CERS1,GDF1 | c.*700G= (n.*700G=) c.431G= (p.Arg144=) c.*1292G= (n.*1292G=) | |
19 | g.18869285C>G | CA404863288 | CERS1,GDF1 | c.*700G>C (n.*700G>C) c.431G>C (p.Arg144Pro) c.*1292G>C (n.*1292G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869285C>T | CA9317930 | CERS1,GDF1 | c.*700G>A (n.*700G>A) c.431G>A (p.Arg144Gln) c.*1292G>A (n.*1292G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869286G>A | CA9317931 | CERS1,GDF1 | c.*699C>T (n.*699C>T) c.430C>T (p.Arg144Trp) c.*1291C>T (n.*1291C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869286G>C | CA404863289 | CERS1,GDF1 | c.*699C>G (n.*699C>G) c.430C>G (p.Arg144Gly) c.*1291C>G (n.*1291C>G) | |
19 | g.18869286G= | CA2326567809 | CERS1,GDF1 | c.*699C= (n.*699C=) c.430C= (p.Arg144=) c.*1291C= (n.*1291C=) | |
19 | g.18869286G>T | CA506118828 | CERS1,GDF1 | c.*699C>A (n.*699C>A) c.430C>A (p.Arg144=) c.*1291C>A (n.*1291C>A) | gnomAD v4 |
19 | g.18869287G>A | CA506118829 | CERS1,GDF1 | c.*698C>T (n.*698C>T) c.429C>T (p.Ser143=) c.*1290C>T (n.*1290C>T) | gnomAD v4 |
19 | g.18869287G>C | CA404863290 | CERS1,GDF1 | c.*698C>G (n.*698C>G) c.429C>G (p.Ser143Arg) c.*1290C>G (n.*1290C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869287G= | CA2326567810 | CERS1,GDF1 | c.*698C= (n.*698C=) c.429C= (p.Ser143=) c.*1290C= (n.*1290C=) | |
19 | g.18869287G>T | CA404863291 | CERS1,GDF1 | c.*698C>A (n.*698C>A) c.429C>A (p.Ser143Arg) c.*1290C>A (n.*1290C>A) | gnomAD v4 |
19 | g.18869288C>A | CA404863292 | CERS1,GDF1 | c.*697G>T (n.*697G>T) c.428G>T (p.Ser143Ile) c.*1289G>T (n.*1289G>T) | gnomAD v4 |
19 | g.18869288C= | CA2326567811 | CERS1,GDF1 | c.*697G= (n.*697G=) c.428G= (p.Ser143=) c.*1289G= (n.*1289G=) | |
19 | g.18869288C>G | CA404863294 | CERS1,GDF1 | c.*697G>C (n.*697G>C) c.428G>C (p.Ser143Thr) c.*1289G>C (n.*1289G>C) | |
19 | g.18869288C>T | CA404863293 | CERS1,GDF1 | c.*697G>A (n.*697G>A) c.428G>A (p.Ser143Asn) c.*1289G>A (n.*1289G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869289T>A | CA404863295 | CERS1,GDF1 | c.*696A>T (n.*696A>T) c.427A>T (p.Ser143Cys) c.*1288A>T (n.*1288A>T) | |
19 | g.18869289T>C | CA404863296 | CERS1,GDF1 | c.*696A>G (n.*696A>G) c.427A>G (p.Ser143Gly) c.*1288A>G (n.*1288A>G) | dbSNP |
19 | g.18869289T>G | CA404863297 | CERS1,GDF1 | c.*696A>C (n.*696A>C) c.427A>C (p.Ser143Arg) c.*1288A>C (n.*1288A>C) | |
19 | g.18869289T= | CA2326567812 | CERS1,GDF1 | c.*696A= (n.*696A=) c.427A= (p.Ser143=) c.*1288A= (n.*1288A=) | |
19 | g.18869290C>A | CA506118834 | CERS1,GDF1 | c.*695G>T (n.*695G>T) c.426G>T (p.Pro142=) c.*1287G>T (n.*1287G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869290C= | CA2326567813 | CERS1,GDF1 | c.*695G= (n.*695G=) c.426G= (p.Pro142=) c.*1287G= (n.*1287G=) | |
19 | g.18869290C>G | CA506118835 | CERS1,GDF1 | c.*695G>C (n.*695G>C) c.426G>C (p.Pro142=) c.*1287G>C (n.*1287G>C) | |
19 | g.18869290C>T | CA9317932 | CERS1,GDF1 | c.*695G>A (n.*695G>A) c.426G>A (p.Pro142=) c.*1287G>A (n.*1287G>A) | dbSNP ExAC gnomAD v4 |
19 | g.18869291G>A | CA404863298 | CERS1,GDF1 | c.*694C>T (n.*694C>T) c.425C>T (p.Pro142Leu) c.*1286C>T (n.*1286C>T) | gnomAD v4 |
19 | g.18869291G>C | CA404863300 | CERS1,GDF1 | c.*694C>G (n.*694C>G) c.425C>G (p.Pro142Arg) c.*1286C>G (n.*1286C>G) | gnomAD v4 |
19 | g.18869291G>T | CA404863299 | CERS1,GDF1 | c.*694C>A (n.*694C>A) c.425C>A (p.Pro142Gln) c.*1286C>A (n.*1286C>A) | gnomAD v4 |
19 | g.18869293del | CA2838490369 | CERS1,GDF1 | c.*694del (n.*694del) c.425del (p.Pro142ArgfsTer24) c.*1286del (n.*1286del) | |
19 | g.18869292G>A | CA306231820 | CERS1,GDF1 | c.*693C>T (n.*693C>T) c.424C>T (p.Pro142Ser) c.*1285C>T (n.*1285C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869292G>C | CA404863301 | CERS1,GDF1 | c.*693C>G (n.*693C>G) c.424C>G (p.Pro142Ala) c.*1285C>G (n.*1285C>G) | |
19 | g.18869292G= | CA2326567814 | CERS1,GDF1 | c.*693C= (n.*693C=) c.424C= (p.Pro142=) c.*1285C= (n.*1285C=) | |
19 | g.18869292G>T | CA404863302 | CERS1,GDF1 | c.*693C>A (n.*693C>A) c.424C>A (p.Pro142Thr) c.*1285C>A (n.*1285C>A) | |
19 | g.18869293G>A | CA506118841 | CERS1,GDF1 | c.*692C>T (n.*692C>T) c.423C>T (p.Arg141=) c.*1284C>T (n.*1284C>T) | dbSNP gnomAD v4 |
19 | g.18869293G>C | CA506118842 | CERS1,GDF1 | c.*692C>G (n.*692C>G) c.423C>G (p.Arg141=) c.*1284C>G (n.*1284C>G) | |
19 | g.18869293G= | CA2326567815 | CERS1,GDF1 | c.*692C= (n.*692C=) c.423C= (p.Arg141=) c.*1284C= (n.*1284C=) | |
19 | g.18869293G>T | CA506118843 | CERS1,GDF1 | c.*692C>A (n.*692C>A) c.423C>A (p.Arg141=) c.*1284C>A (n.*1284C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869294C>A | CA404863303 | CERS1,GDF1 | c.*691G>T (n.*691G>T) c.422G>T (p.Arg141Leu) c.*1283G>T (n.*1283G>T) | gnomAD v4 |
19 | g.18869294C= | CA2326567816 | CERS1,GDF1 | c.*691G= (n.*691G=) c.422G= (p.Arg141=) c.*1283G= (n.*1283G=) | |
19 | g.18869294C>G | CA404863304 | CERS1,GDF1 | c.*691G>C (n.*691G>C) c.422G>C (p.Arg141Pro) c.*1283G>C (n.*1283G>C) | |
19 | g.18869294C>T | CA404863305 | CERS1,GDF1 | c.*691G>A (n.*691G>A) c.422G>A (p.Arg141His) c.*1283G>A (n.*1283G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869295G>A | CA306231841 | CERS1,GDF1 | c.*690C>T (n.*690C>T) c.421C>T (p.Arg141Cys) c.*1282C>T (n.*1282C>T) | dbSNP gnomAD v4 |
19 | g.18869295G>C | CA404863306 | CERS1,GDF1 | c.*690C>G (n.*690C>G) c.421C>G (p.Arg141Gly) c.*1282C>G (n.*1282C>G) | gnomAD v4 |
19 | g.18869295G= | CA2326567817 | CERS1,GDF1 | c.*690C= (n.*690C=) c.421C= (p.Arg141=) c.*1282C= (n.*1282C=) | |
19 | g.18869295G>T | CA404863307 | CERS1,GDF1 | c.*690C>A (n.*690C>A) c.421C>A (p.Arg141Ser) c.*1282C>A (n.*1282C>A) | gnomAD v4 |
19 | g.18869296C>A | CA404863308 | CERS1,GDF1 | c.*689G>T (n.*689G>T) c.420G>T (p.Glu140Asp) c.*1281G>T (n.*1281G>T) | gnomAD v4 |
19 | g.18869296C= | CA2326567818 | CERS1,GDF1 | c.*689G= (n.*689G=) c.420G= (p.Glu140=) c.*1281G= (n.*1281G=) | |
19 | g.18869296C>G | CA404863309 | CERS1,GDF1 | c.*689G>C (n.*689G>C) c.420G>C (p.Glu140Asp) c.*1281G>C (n.*1281G>C) | |
19 | g.18869296C>T | CA506118847 | CERS1,GDF1 | c.*689G>A (n.*689G>A) c.420G>A (p.Glu140=) c.*1281G>A (n.*1281G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869297T>A | CA404863311 | CERS1,GDF1 | c.*688A>T (n.*688A>T) c.419A>T (p.Glu140Val) c.*1280A>T (n.*1280A>T) | |
19 | g.18869297T>C | CA404863312 | CERS1,GDF1 | c.*688A>G (n.*688A>G) c.419A>G (p.Glu140Gly) c.*1280A>G (n.*1280A>G) | gnomAD v4 |
19 | g.18869297T>G | CA404863310 | CERS1,GDF1 | c.*688A>C (n.*688A>C) c.419A>C (p.Glu140Ala) c.*1280A>C (n.*1280A>C) | |
19 | g.18869298C>A | CA404863313 | CERS1,GDF1 | c.*687G>T (n.*687G>T) c.418G>T (p.Glu140Ter) c.*1279G>T (n.*1279G>T) | dbSNP gnomAD v4 |
19 | g.18869298C= | CA2326567819 | CERS1,GDF1 | c.*687G= (n.*687G=) c.418G= (p.Glu140=) c.*1279G= (n.*1279G=) | |
19 | g.18869298C>G | CA404863315 | CERS1,GDF1 | c.*687G>C (n.*687G>C) c.418G>C (p.Glu140Gln) c.*1279G>C (n.*1279G>C) | ClinVar |
19 | g.18869298C>T | CA404863314 | CERS1,GDF1 | c.*687G>A (n.*687G>A) c.418G>A (p.Glu140Lys) c.*1279G>A (n.*1279G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869299A>C | CA506118155 | CERS1,GDF1 | c.*686T>G (n.*686T>G) c.417T>G (p.Ala139=) c.*1278T>G (n.*1278T>G) | |
19 | g.18869299A>G | CA506118156 | CERS1,GDF1 | c.*686T>C (n.*686T>C) c.417T>C (p.Ala139=) c.*1278T>C (n.*1278T>C) | gnomAD v4 |
19 | g.18869299A>T | CA506118157 | CERS1,GDF1 | c.*686T>A (n.*686T>A) c.417T>A (p.Ala139=) c.*1278T>A (n.*1278T>A) | gnomAD v4 |
19 | g.18869300G>A | CA404863316 | CERS1,GDF1 | c.*685C>T (n.*685C>T) c.416C>T (p.Ala139Val) c.*1277C>T (n.*1277C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869300G>C | CA404863318 | CERS1,GDF1 | c.*685C>G (n.*685C>G) c.416C>G (p.Ala139Gly) c.*1277C>G (n.*1277C>G) | |
19 | g.18869300G= | CA2326567820 | CERS1,GDF1 | c.*685C= (n.*685C=) c.416C= (p.Ala139=) c.*1277C= (n.*1277C=) | |
19 | g.18869300G>T | CA404863317 | CERS1,GDF1 | c.*685C>A (n.*685C>A) c.416C>A (p.Ala139Asp) c.*1277C>A (n.*1277C>A) | gnomAD v4 |
19 | g.18869301C>A | CA404863319 | CERS1,GDF1 | c.*684G>T (n.*684G>T) c.415G>T (p.Ala139Ser) c.*1276G>T (n.*1276G>T) | gnomAD v4 |
19 | g.18869301C>G | CA404863321 | CERS1,GDF1 | c.*684G>C (n.*684G>C) c.415G>C (p.Ala139Pro) c.*1276G>C (n.*1276G>C) | |
19 | g.18869301C>T | CA404863320 | CERS1,GDF1 | c.*684G>A (n.*684G>A) c.415G>A (p.Ala139Thr) c.*1276G>A (n.*1276G>A) | gnomAD v4 |
19 | g.18869302G>A | CA306231848 | CERS1,GDF1 | c.*683C>T (n.*683C>T) c.414C>T (p.Pro138=) c.*1275C>T (n.*1275C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869302G>C | CA506118162 | CERS1,GDF1 | c.*683C>G (n.*683C>G) c.414C>G (p.Pro138=) c.*1275C>G (n.*1275C>G) | dbSNP |
19 | g.18869302G= | CA2326567821 | CERS1,GDF1 | c.*683C= (n.*683C=) c.414C= (p.Pro138=) c.*1275C= (n.*1275C=) | |
19 | g.18869302G>T | CA506118164 | CERS1,GDF1 | c.*683C>A (n.*683C>A) c.414C>A (p.Pro138=) c.*1275C>A (n.*1275C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869304dup | CA2813841594 | CERS1,GDF1 | c.*683dup (n.*683dup) c.414dup (p.Ala139ArgfsTer2) c.*1275dup (n.*1275dup) | |
19 | g.18869303G>A | CA404863322 | CERS1,GDF1 | c.*682C>T (n.*682C>T) c.413C>T (p.Pro138Leu) c.*1274C>T (n.*1274C>T) | gnomAD v4 |
19 | g.18869303G>C | CA404863323 | CERS1,GDF1 | c.*682C>G (n.*682C>G) c.413C>G (p.Pro138Arg) c.*1274C>G (n.*1274C>G) | |
19 | g.18869303G>T | CA404863324 | CERS1,GDF1 | c.*682C>A (n.*682C>A) c.413C>A (p.Pro138His) c.*1274C>A (n.*1274C>A) | gnomAD v4 |
19 | g.18869304G>A | CA404863325 | CERS1,GDF1 | c.*681C>T (n.*681C>T) c.412C>T (p.Pro138Ser) c.*1273C>T (n.*1273C>T) | gnomAD v4 |
19 | g.18869304G>C | CA404863326 | CERS1,GDF1 | c.*681C>G (n.*681C>G) c.412C>G (p.Pro138Ala) c.*1273C>G (n.*1273C>G) | |
19 | g.18869304G= | CA2326567822 | CERS1,GDF1 | c.*681C= (n.*681C=) c.412C= (p.Pro138=) c.*1273C= (n.*1273C=) | |
19 | g.18869304G>T | CA9317933 | CERS1,GDF1 | c.*681C>A (n.*681C>A) c.412C>A (p.Pro138Thr) c.*1273C>A (n.*1273C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869305T>A | CA404863327 | CERS1,GDF1 | c.*680A>T (n.*680A>T) c.411A>T (p.Glu137Asp) c.*1272A>T (n.*1272A>T) | |
19 | g.18869305T>C | CA506118166 | CERS1,GDF1 | c.*680A>G (n.*680A>G) c.411A>G (p.Glu137=) c.*1272A>G (n.*1272A>G) | gnomAD v4 |
19 | g.18869305T>G | CA306231859 | CERS1,GDF1 | c.*680A>C (n.*680A>C) c.411A>C (p.Glu137Asp) c.*1272A>C (n.*1272A>C) | dbSNP |
19 | g.18869305T= | CA2326567823 | CERS1,GDF1 | c.*680A= (n.*680A=) c.411A= (p.Glu137=) c.*1272A= (n.*1272A=) | |
19 | g.18869306T>A | CA404863328 | CERS1,GDF1 | c.*679A>T (n.*679A>T) c.410A>T (p.Glu137Val) c.*1271A>T (n.*1271A>T) | |
19 | g.18869306T>C | CA404863329 | CERS1,GDF1 | c.*679A>G (n.*679A>G) c.410A>G (p.Glu137Gly) c.*1271A>G (n.*1271A>G) | dbSNP |
19 | g.18869306T>G | CA404863330 | CERS1,GDF1 | c.*679A>C (n.*679A>C) c.410A>C (p.Glu137Ala) c.*1271A>C (n.*1271A>C) | |
19 | g.18869306T= | CA2326567824 | CERS1,GDF1 | c.*679A= (n.*679A=) c.410A= (p.Glu137=) c.*1271A= (n.*1271A=) | |
19 | g.18869306_18869307delinsTC | CA2326567825 | CERS1,GDF1 | c.*678_*679delinsGA (n.*678_*679delinsGA) c.409_410delinsGA (p.Glu137=) c.*1270_*1271delinsGA (n.*1270_*1271delinsGA) | |
19 | g.18869307C>A | CA404863331 | CERS1,GDF1 | c.*678G>T (n.*678G>T) c.409G>T (p.Glu137Ter) c.*1270G>T (n.*1270G>T) | |
19 | g.18869307C= | CA2326567827 | CERS1,GDF1 | c.*678G= (n.*678G=) c.409G= (p.Glu137=) c.*1270G= (n.*1270G=) | |
19 | g.18869307C>G | CA404863333 | CERS1,GDF1 | c.*678G>C (n.*678G>C) c.409G>C (p.Glu137Gln) c.*1270G>C (n.*1270G>C) | |
19 | g.18869307C>T | CA404863332 | CERS1,GDF1 | c.*678G>A (n.*678G>A) c.409G>A (p.Glu137Lys) c.*1270G>A (n.*1270G>A) | dbSNP |
19 | g.18869308del | CA2326567826 | CERS1,GDF1 | c.*678del (n.*678del) c.409del (p.Glu137AsnfsTer29) c.*1270del (n.*1270del) | dbSNP |
19 | g.18869308_18869314del | CA2583634798 | CERS1,GDF1 | c.*672_*678del (n.*672_*678del) c.403_409del (p.Ala135AsnfsTer29) c.*1264_*1270del (n.*1264_*1270del) | gnomAD v4 |
19 | g.18869308C>A | CA506118172 | CERS1,GDF1 | c.*677G>T (n.*677G>T) c.408G>T (p.Val136=) c.*1269G>T (n.*1269G>T) | gnomAD v4 |
19 | g.18869308C= | CA2326567828 | CERS1,GDF1 | c.*677G= (n.*677G=) c.408G= (p.Val136=) c.*1269G= (n.*1269G=) | |
19 | g.18869308C>G | CA506118173 | CERS1,GDF1 | c.*677G>C (n.*677G>C) c.408G>C (p.Val136=) c.*1269G>C (n.*1269G>C) | |
19 | g.18869308C>T | CA506118174 | CERS1,GDF1 | c.*677G>A (n.*677G>A) c.408G>A (p.Val136=) c.*1269G>A (n.*1269G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869309A= | CA2326567829 | CERS1,GDF1 | c.*676T= (n.*676T=) c.407T= (p.Val136=) c.*1268T= (n.*1268T=) | |
19 | g.18869309A>C | CA404863334 | CERS1,GDF1 | c.*676T>G (n.*676T>G) c.407T>G (p.Val136Gly) c.*1268T>G (n.*1268T>G) | |
19 | g.18869309A>G | CA306231861 | CERS1,GDF1 | c.*676T>C (n.*676T>C) c.407T>C (p.Val136Ala) c.*1268T>C (n.*1268T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869309A>T | CA404863335 | CERS1,GDF1 | c.*676T>A (n.*676T>A) c.407T>A (p.Val136Glu) c.*1268T>A (n.*1268T>A) | |
19 | g.18869310C>A | CA404863336 | CERS1,GDF1 | c.*675G>T (n.*675G>T) c.406G>T (p.Val136Leu) c.*1267G>T (n.*1267G>T) | gnomAD v4 |
19 | g.18869310C>G | CA404863337 | CERS1,GDF1 | c.*675G>C (n.*675G>C) c.406G>C (p.Val136Leu) c.*1267G>C (n.*1267G>C) | |
19 | g.18869310C>T | CA404863338 | CERS1,GDF1 | c.*675G>A (n.*675G>A) c.406G>A (p.Val136Met) c.*1267G>A (n.*1267G>A) | gnomAD v4 |
19 | g.18869311A>C | CA506118182 | CERS1,GDF1 | c.*674T>G (n.*674T>G) c.405T>G (p.Ala135=) c.*1266T>G (n.*1266T>G) | |
19 | g.18869311A>G | CA506118183 | CERS1,GDF1 | c.*674T>C (n.*674T>C) c.405T>C (p.Ala135=) c.*1266T>C (n.*1266T>C) | gnomAD v4 |
19 | g.18869311A>T | CA506118184 | CERS1,GDF1 | c.*674T>A (n.*674T>A) c.405T>A (p.Ala135=) c.*1266T>A (n.*1266T>A) | gnomAD v4 |
19 | g.18869312G>A | CA16616030 | CERS1,GDF1 | c.*673C>T (n.*673C>T) c.404C>T (p.Ala135Val) c.*1265C>T (n.*1265C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869312G>C | CA404863339 | CERS1,GDF1 | c.*673C>G (n.*673C>G) c.404C>G (p.Ala135Gly) c.*1265C>G (n.*1265C>G) | gnomAD v4 |
19 | g.18869312G= | CA2326567830 | CERS1,GDF1 | c.*673C= (n.*673C=) c.404C= (p.Ala135=) c.*1265C= (n.*1265C=) | |
19 | g.18869312G>T | CA404863340 | CERS1,GDF1 | c.*673C>A (n.*673C>A) c.404C>A (p.Ala135Asp) c.*1265C>A (n.*1265C>A) | |
19 | g.18869313C>A | CA404863342 | CERS1,GDF1 | c.*672G>T (n.*672G>T) c.403G>T (p.Ala135Ser) c.*1264G>T (n.*1264G>T) | gnomAD v4 |
19 | g.18869313C= | CA2326567831 | CERS1,GDF1 | c.*672G= (n.*672G=) c.403G= (p.Ala135=) c.*1264G= (n.*1264G=) | |
19 | g.18869313C>G | CA404863343 | CERS1,GDF1 | c.*672G>C (n.*672G>C) c.403G>C (p.Ala135Pro) c.*1264G>C (n.*1264G>C) | |
19 | g.18869313C>T | CA404863341 | CERS1,GDF1 | c.*672G>A (n.*672G>A) c.403G>A (p.Ala135Thr) c.*1264G>A (n.*1264G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869314C>A | CA506118189 | CERS1,GDF1 | c.*671G>T (n.*671G>T) c.402G>T (p.Ser134=) c.*1263G>T (n.*1263G>T) | |
19 | g.18869314C= | CA2326567832 | CERS1,GDF1 | c.*671G= (n.*671G=) c.402G= (p.Ser134=) c.*1263G= (n.*1263G=) | |
19 | g.18869314C>G | CA506118193 | CERS1,GDF1 | c.*671G>C (n.*671G>C) c.402G>C (p.Ser134=) c.*1263G>C (n.*1263G>C) | gnomAD v4 |
19 | g.18869314C>T | CA506118191 | CERS1,GDF1 | c.*671G>A (n.*671G>A) c.402G>A (p.Ser134=) c.*1263G>A (n.*1263G>A) | dbSNP gnomAD v4 |
19 | g.18869315G>A | CA404863344 | CERS1,GDF1 | c.*670C>T (n.*670C>T) c.401C>T (p.Ser134Leu) c.*1262C>T (n.*1262C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869315G>C | CA16620817 | CERS1,GDF1 | c.*670C>G (n.*670C>G) c.401C>G (p.Ser134Trp) c.*1262C>G (n.*1262C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869315G= | CA2326567833 | CERS1,GDF1 | c.*670C= (n.*670C=) c.401C= (p.Ser134=) c.*1262C= (n.*1262C=) | |
19 | g.18869315G>T | CA404863345 | CERS1,GDF1 | c.*670C>A (n.*670C>A) c.401C>A (p.Ser134Ter) c.*1262C>A (n.*1262C>A) | gnomAD v4 |
19 | g.18869315dup | CA2576726652 | CERS1,GDF1 | c.*670dup (n.*670dup) c.401dup (p.Ala135GlyfsTer6) c.*1262dup (n.*1262dup) | |
19 | g.18869316A>C | CA404863346 | CERS1,GDF1 | c.*669T>G (n.*669T>G) c.400T>G (p.Ser134Ala) c.*1261T>G (n.*1261T>G) | |
19 | g.18869316A>G | CA404863347 | CERS1,GDF1 | c.*669T>C (n.*669T>C) c.400T>C (p.Ser134Pro) c.*1261T>C (n.*1261T>C) | gnomAD v4 |
19 | g.18869316A>T | CA404863348 | CERS1,GDF1 | c.*669T>A (n.*669T>A) c.400T>A (p.Ser134Thr) c.*1261T>A (n.*1261T>A) | |
19 | g.18869317C>A | CA506118201 | CERS1,GDF1 | c.*668G>T (n.*668G>T) c.399G>T (p.Leu133=) c.*1260G>T (n.*1260G>T) | gnomAD v4 |
19 | g.18869317C= | CA2326567834 | CERS1,GDF1 | c.*668G= (n.*668G=) c.399G= (p.Leu133=) c.*1260G= (n.*1260G=) | |
19 | g.18869317C>G | CA506118202 | CERS1,GDF1 | c.*668G>C (n.*668G>C) c.399G>C (p.Leu133=) c.*1260G>C (n.*1260G>C) | |
19 | g.18869317C>T | CA506118203 | CERS1,GDF1 | c.*668G>A (n.*668G>A) c.399G>A (p.Leu133=) c.*1260G>A (n.*1260G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869318A= | CA2326567835 | CERS1,GDF1 | c.*667T= (n.*667T=) c.398T= (p.Leu133=) c.*1259T= (n.*1259T=) | |
19 | g.18869318A>C | CA404863349 | CERS1,GDF1 | c.*667T>G (n.*667T>G) c.398T>G (p.Leu133Arg) c.*1259T>G (n.*1259T>G) | |
19 | g.18869318A>G | CA404863351 | CERS1,GDF1 | c.*667T>C (n.*667T>C) c.398T>C (p.Leu133Pro) c.*1259T>C (n.*1259T>C) | |
19 | g.18869318A>T | CA404863350 | CERS1,GDF1 | c.*667T>A (n.*667T>A) c.398T>A (p.Leu133Gln) c.*1259T>A (n.*1259T>A) | dbSNP |
19 | g.18869319G>A | CA506118210 | CERS1,GDF1 | c.*666C>T (n.*666C>T) c.397C>T (p.Leu133=) c.*1258C>T (n.*1258C>T) | |
19 | g.18869319G>C | CA404863352 | CERS1,GDF1 | c.*666C>G (n.*666C>G) c.397C>G (p.Leu133Val) c.*1258C>G (n.*1258C>G) | gnomAD v4 |
19 | g.18869319G>T | CA404863353 | CERS1,GDF1 | c.*666C>A (n.*666C>A) c.397C>A (p.Leu133Met) c.*1258C>A (n.*1258C>A) | gnomAD v4 |
19 | g.18869320G>A | CA506118211 | CERS1,GDF1 | c.*665C>T (n.*665C>T) c.396C>T (p.Asp132=) c.*1257C>T (n.*1257C>T) | dbSNP gnomAD v4 |
19 | g.18869320G>C | CA404863354 | CERS1,GDF1 | c.*665C>G (n.*665C>G) c.396C>G (p.Asp132Glu) c.*1257C>G (n.*1257C>G) | |
19 | g.18869320G= | CA2326567836 | CERS1,GDF1 | c.*665C= (n.*665C=) c.396C= (p.Asp132=) c.*1257C= (n.*1257C=) | |
19 | g.18869320G>T | CA404863355 | CERS1,GDF1 | c.*665C>A (n.*665C>A) c.396C>A (p.Asp132Glu) c.*1257C>A (n.*1257C>A) | gnomAD v4 |
19 | g.18869321T>A | CA404863356 | CERS1,GDF1 | c.*664A>T (n.*664A>T) c.395A>T (p.Asp132Val) c.*1256A>T (n.*1256A>T) | gnomAD v4 |
19 | g.18869321T>C | CA404863358 | CERS1,GDF1 | c.*664A>G (n.*664A>G) c.395A>G (p.Asp132Gly) c.*1256A>G (n.*1256A>G) | gnomAD v4 |
19 | g.18869321T>G | CA404863357 | CERS1,GDF1 | c.*664A>C (n.*664A>C) c.395A>C (p.Asp132Ala) c.*1256A>C (n.*1256A>C) | gnomAD v4 |
19 | g.18869322C>A | CA404863359 | CERS1,GDF1 | c.*663G>T (n.*663G>T) c.394G>T (p.Asp132Tyr) c.*1255G>T (n.*1255G>T) | gnomAD v4 |
19 | g.18869322C= | CA2326567837 | CERS1,GDF1 | c.*663G= (n.*663G=) c.394G= (p.Asp132=) c.*1255G= (n.*1255G=) | |
19 | g.18869322C>G | CA404863360 | CERS1,GDF1 | c.*663G>C (n.*663G>C) c.394G>C (p.Asp132His) c.*1255G>C (n.*1255G>C) | gnomAD v4 |
19 | g.18869322C>T | CA404863361 | CERS1,GDF1 | c.*663G>A (n.*663G>A) c.394G>A (p.Asp132Asn) c.*1255G>A (n.*1255G>A) | dbSNP gnomAD v4 |
19 | g.18869323G>A | CA506118221 | CERS1,GDF1 | c.*662C>T (n.*662C>T) c.393C>T (p.Phe131=) c.*1254C>T (n.*1254C>T) | dbSNP |
19 | g.18869323G>C | CA404863362 | CERS1,GDF1 | c.*662C>G (n.*662C>G) c.393C>G (p.Phe131Leu) c.*1254C>G (n.*1254C>G) | |
19 | g.18869323G= | CA2326567838 | CERS1,GDF1 | c.*662C= (n.*662C=) c.393C= (p.Phe131=) c.*1254C= (n.*1254C=) | |
19 | g.18869323G>T | CA404863363 | CERS1,GDF1 | c.*662C>A (n.*662C>A) c.393C>A (p.Phe131Leu) c.*1254C>A (n.*1254C>A) | dbSNP gnomAD v4 |
19 | g.18869324A>C | CA404863364 | CERS1,GDF1 | c.*661T>G (n.*661T>G) c.392T>G (p.Phe131Cys) c.*1253T>G (n.*1253T>G) | |
19 | g.18869324A>G | CA404863365 | CERS1,GDF1 | c.*661T>C (n.*661T>C) c.392T>C (p.Phe131Ser) c.*1253T>C (n.*1253T>C) | gnomAD v4 |
19 | g.18869324A>T | CA404863366 | CERS1,GDF1 | c.*661T>A (n.*661T>A) c.392T>A (p.Phe131Tyr) c.*1253T>A (n.*1253T>A) | |
19 | g.18869325A>C | CA404863367 | CERS1,GDF1 | c.*660T>G (n.*660T>G) c.391T>G (p.Phe131Val) c.*1252T>G (n.*1252T>G) | |
19 | g.18869325A>G | CA404863368 | CERS1,GDF1 | c.*660T>C (n.*660T>C) c.391T>C (p.Phe131Leu) c.*1252T>C (n.*1252T>C) | |
19 | g.18869325A>T | CA404863369 | CERS1,GDF1 | c.*660T>A (n.*660T>A) c.391T>A (p.Phe131Ile) c.*1252T>A (n.*1252T>A) | gnomAD v4 |
19 | g.18869326G>A | CA506118232 | CERS1,GDF1 | c.*659C>T (n.*659C>T) c.390C>T (p.Val130=) c.*1251C>T (n.*1251C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869326G>C | CA506118234 | CERS1,GDF1 | c.*659C>G (n.*659C>G) c.390C>G (p.Val130=) c.*1251C>G (n.*1251C>G) | |
19 | g.18869326G= | CA2326567839 | CERS1,GDF1 | c.*659C= (n.*659C=) c.390C= (p.Val130=) c.*1251C= (n.*1251C=) | |
19 | g.18869326G>T | CA506118233 | CERS1,GDF1 | c.*659C>A (n.*659C>A) c.390C>A (p.Val130=) c.*1251C>A (n.*1251C>A) | gnomAD v4 |
19 | g.18869327A>C | CA404863372 | CERS1,GDF1 | c.*658T>G (n.*658T>G) c.389T>G (p.Val130Gly) c.*1250T>G (n.*1250T>G) | |
19 | g.18869327A>G | CA404863371 | CERS1,GDF1 | c.*658T>C (n.*658T>C) c.389T>C (p.Val130Ala) c.*1250T>C (n.*1250T>C) | |
19 | g.18869327A>T | CA404863370 | CERS1,GDF1 | c.*658T>A (n.*658T>A) c.389T>A (p.Val130Asp) c.*1250T>A (n.*1250T>A) | |
19 | g.18869328C>A | CA404863373 | CERS1,GDF1 | c.*657G>T (n.*657G>T) c.388G>T (p.Val130Phe) c.*1249G>T (n.*1249G>T) | gnomAD v4 |
19 | g.18869328C= | CA2326567840 | CERS1,GDF1 | c.*657G= (n.*657G=) c.388G= (p.Val130=) c.*1249G= (n.*1249G=) | |
19 | g.18869328C>G | CA404863374 | CERS1,GDF1 | c.*657G>C (n.*657G>C) c.388G>C (p.Val130Leu) c.*1249G>C (n.*1249G>C) | |
19 | g.18869328C>T | CA9317934 | CERS1,GDF1 | c.*657G>A (n.*657G>A) c.388G>A (p.Val130Ile) c.*1249G>A (n.*1249G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869329G>A | CA506118242 | CERS1,GDF1 | c.*656C>T (n.*656C>T) c.387C>T (p.Val129=) c.*1248C>T (n.*1248C>T) | gnomAD v4 |
19 | g.18869329G>C | CA506118243 | CERS1,GDF1 | c.*656C>G (n.*656C>G) c.387C>G (p.Val129=) c.*1248C>G (n.*1248C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869329G= | CA2326567841 | CERS1,GDF1 | c.*656C= (n.*656C=) c.387C= (p.Val129=) c.*1248C= (n.*1248C=) | |
19 | g.18869329G>T | CA506118245 | CERS1,GDF1 | c.*656C>A (n.*656C>A) c.387C>A (p.Val129=) c.*1248C>A (n.*1248C>A) | gnomAD v4 |
19 | g.18869330A= | CA2326567842 | CERS1,GDF1 | c.*655T= (n.*655T=) c.386T= (p.Val129=) c.*1247T= (n.*1247T=) | |
19 | g.18869330A>C | CA404863375 | CERS1,GDF1 | c.*655T>G (n.*655T>G) c.386T>G (p.Val129Gly) c.*1247T>G (n.*1247T>G) | |
19 | g.18869330A>G | CA404863376 | CERS1,GDF1 | c.*655T>C (n.*655T>C) c.386T>C (p.Val129Ala) c.*1247T>C (n.*1247T>C) | dbSNP |
19 | g.18869330A>T | CA404863377 | CERS1,GDF1 | c.*655T>A (n.*655T>A) c.386T>A (p.Val129Asp) c.*1247T>A (n.*1247T>A) | gnomAD v4 |
19 | g.18869331C>A | CA404863380 | CERS1,GDF1 | c.*654G>T (n.*654G>T) c.385G>T (p.Val129Phe) c.*1246G>T (n.*1246G>T) | gnomAD v4 |
19 | g.18869331C= | CA2326567843 | CERS1,GDF1 | c.*654G= (n.*654G=) c.385G= (p.Val129=) c.*1246G= (n.*1246G=) | |
19 | g.18869331C>G | CA404863379 | CERS1,GDF1 | c.*654G>C (n.*654G>C) c.385G>C (p.Val129Leu) c.*1246G>C (n.*1246G>C) | dbSNP gnomAD v4 |
19 | g.18869331C>T | CA404863378 | CERS1,GDF1 | c.*654G>A (n.*654G>A) c.385G>A (p.Val129Ile) c.*1246G>A (n.*1246G>A) | gnomAD v4 |
19 | g.18869332T>A | CA506118247 | CERS1,GDF1 | c.*653A>T (n.*653A>T) c.384A>T (p.Thr128=) c.*1245A>T (n.*1245A>T) | gnomAD v4 |
19 | g.18869332T>C | CA506118248 | CERS1,GDF1 | c.*653A>G (n.*653A>G) c.384A>G (p.Thr128=) c.*1245A>G (n.*1245A>G) | |
19 | g.18869332T>G | CA506118250 | CERS1,GDF1 | c.*653A>C (n.*653A>C) c.384A>C (p.Thr128=) c.*1245A>C (n.*1245A>C) | |
19 | g.18869333G>A | CA404863381 | CERS1,GDF1 | c.*652C>T (n.*652C>T) c.383C>T (p.Thr128Ile) c.*1244C>T (n.*1244C>T) | gnomAD v4 |
19 | g.18869333G>C | CA404863382 | CERS1,GDF1 | c.*652C>G (n.*652C>G) c.383C>G (p.Thr128Arg) c.*1244C>G (n.*1244C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869333G= | CA2326567844 | CERS1,GDF1 | c.*652C= (n.*652C=) c.383C= (p.Thr128=) c.*1244C= (n.*1244C=) | |
19 | g.18869333G>T | CA404863383 | CERS1,GDF1 | c.*652C>A (n.*652C>A) c.383C>A (p.Thr128Lys) c.*1244C>A (n.*1244C>A) | gnomAD v4 |
19 | g.18869334T>A | CA404863384 | CERS1,GDF1 | c.*651A>T (n.*651A>T) c.382A>T (p.Thr128Ser) c.*1243A>T (n.*1243A>T) | gnomAD v4 |
19 | g.18869334T>C | CA404863385 | CERS1,GDF1 | c.*651A>G (n.*651A>G) c.382A>G (p.Thr128Ala) c.*1243A>G (n.*1243A>G) | |
19 | g.18869334T>G | CA9317935 | CERS1,GDF1 | c.*651A>C (n.*651A>C) c.382A>C (p.Thr128Pro) c.*1243A>C (n.*1243A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869334T= | CA2326567845 | CERS1,GDF1 | c.*651A= (n.*651A=) c.382A= (p.Thr128=) c.*1243A= (n.*1243A=) | |
19 | g.18869335C>A | CA404863386 | CERS1,GDF1 | c.*650G>T (n.*650G>T) c.381G>T (p.Trp127Cys) c.*1242G>T (n.*1242G>T) | gnomAD v4 |
19 | g.18869335C>G | CA404863388 | CERS1,GDF1 | c.*650G>C (n.*650G>C) c.381G>C (p.Trp127Cys) c.*1242G>C (n.*1242G>C) | |
19 | g.18869335C>T | CA404863387 | CERS1,GDF1 | c.*650G>A (n.*650G>A) c.381G>A (p.Trp127Ter) c.*1242G>A (n.*1242G>A) | gnomAD v4 |
19 | g.18869336del | CA2813841595 | CERS1,GDF1 | c.*650del (n.*650del) c.381del (p.Trp127Ter) c.*1242del (n.*1242del) | |
19 | g.18869336C>A | CA404863389 | CERS1,GDF1 | c.*649G>T (n.*649G>T) c.380G>T (p.Trp127Leu) c.*1241G>T (n.*1241G>T) | gnomAD v4 |
19 | g.18869336C= | CA2326567846 | CERS1,GDF1 | c.*649G= (n.*649G=) c.380G= (p.Trp127=) c.*1241G= (n.*1241G=) | |
19 | g.18869336C>G | CA404863390 | CERS1,GDF1 | c.*649G>C (n.*649G>C) c.380G>C (p.Trp127Ser) c.*1241G>C (n.*1241G>C) | |
19 | g.18869336C>T | CA306231865 | CERS1,GDF1 | c.*649G>A (n.*649G>A) c.380G>A (p.Trp127Ter) c.*1241G>A (n.*1241G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869337A= | CA2326567847 | CERS1,GDF1 | c.*648T= (n.*648T=) c.379T= (p.Trp127=) c.*1240T= (n.*1240T=) | |
19 | g.18869337A>C | CA404863391 | CERS1,GDF1 | c.*648T>G (n.*648T>G) c.379T>G (p.Trp127Gly) c.*1240T>G (n.*1240T>G) | |
19 | g.18869337A>G | CA404863392 | CERS1,GDF1 | c.*648T>C (n.*648T>C) c.379T>C (p.Trp127Arg) c.*1240T>C (n.*1240T>C) | dbSNP gnomAD v4 |
19 | g.18869337A>T | CA404863393 | CERS1,GDF1 | c.*648T>A (n.*648T>A) c.379T>A (p.Trp127Arg) c.*1240T>A (n.*1240T>A) | gnomAD v4 |
19 | g.18869338C>A | CA404863394 | CERS1,GDF1 | c.*647G>T (n.*647G>T) c.378G>T (p.Glu126Asp) c.*1239G>T (n.*1239G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869338C= | CA2326567848 | CERS1,GDF1 | c.*647G= (n.*647G=) c.378G= (p.Glu126=) c.*1239G= (n.*1239G=) | |
19 | g.18869338C>G | CA404863395 | CERS1,GDF1 | c.*647G>C (n.*647G>C) c.378G>C (p.Glu126Asp) c.*1239G>C (n.*1239G>C) | |
19 | g.18869338C>T | CA506118261 | CERS1,GDF1 | c.*647G>A (n.*647G>A) c.378G>A (p.Glu126=) c.*1239G>A (n.*1239G>A) | gnomAD v4 |
19 | g.18869339T>A | CA404863396 | CERS1,GDF1 | c.*646A>T (n.*646A>T) c.377A>T (p.Glu126Val) c.*1238A>T (n.*1238A>T) | |
19 | g.18869339T>C | CA404863397 | CERS1,GDF1 | c.*646A>G (n.*646A>G) c.377A>G (p.Glu126Gly) c.*1238A>G (n.*1238A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869339T>G | CA404863398 | CERS1,GDF1 | c.*646A>C (n.*646A>C) c.377A>C (p.Glu126Ala) c.*1238A>C (n.*1238A>C) | |
19 | g.18869340C>A | CA9317936 | CERS1,GDF1 | c.*645G>T (n.*645G>T) c.376G>T (p.Glu126Ter) c.*1237G>T (n.*1237G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869340C= | CA2326567849 | CERS1,GDF1 | c.*645G= (n.*645G=) c.376G= (p.Glu126=) c.*1237G= (n.*1237G=) | |
19 | g.18869340C>G | CA404863399 | CERS1,GDF1 | c.*645G>C (n.*645G>C) c.376G>C (p.Glu126Gln) c.*1237G>C (n.*1237G>C) | |
19 | g.18869340C>T | CA9317937 | CERS1,GDF1 | c.*645G>A (n.*645G>A) c.376G>A (p.Glu126Lys) c.*1237G>A (n.*1237G>A) | dbSNP ExAC gnomAD v4 |
19 | g.18869341A>C | CA506118270 | CERS1,GDF1 | c.*644T>G (n.*644T>G) c.375T>G (p.Pro125=) c.*1236T>G (n.*1236T>G) | |
19 | g.18869341A>G | CA506118271 | CERS1,GDF1 | c.*644T>C (n.*644T>C) c.375T>C (p.Pro125=) c.*1236T>C (n.*1236T>C) | gnomAD v4 |
19 | g.18869341A>T | CA506118272 | CERS1,GDF1 | c.*644T>A (n.*644T>A) c.375T>A (p.Pro125=) c.*1236T>A (n.*1236T>A) | gnomAD v4 |
19 | g.18869342G>A | CA404863400 | CERS1,GDF1 | c.*643C>T (n.*643C>T) c.374C>T (p.Pro125Leu) c.*1235C>T (n.*1235C>T) | gnomAD v4 |
19 | g.18869342G>C | CA404863401 | CERS1,GDF1 | c.*643C>G (n.*643C>G) c.374C>G (p.Pro125Arg) c.*1235C>G (n.*1235C>G) | gnomAD v4 |
19 | g.18869342G= | CA2326567850 | CERS1,GDF1 | c.*643C= (n.*643C=) c.374C= (p.Pro125=) c.*1235C= (n.*1235C=) | |
19 | g.18869342G>T | CA404863402 | CERS1,GDF1 | c.*643C>A (n.*643C>A) c.374C>A (p.Pro125His) c.*1235C>A (n.*1235C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869344del | CA2583634799 | CERS1,GDF1 | c.*643del (n.*643del) c.374del (p.Pro125LeufsTer?) c.*1235del (n.*1235del) | gnomAD v4 |
19 | g.18869342_18869365delinsGGGCAATGCCCCGCGGCCGAGGCA | CA2326567851 | CERS1,GDF1 | c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC) c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (p.Pro117=) c.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC (n.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC) | |
19 | g.18869343G>A | CA404863403 | CERS1,GDF1 | c.*642C>T (n.*642C>T) c.373C>T (p.Pro125Ser) c.*1234C>T (n.*1234C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869343G>C | CA404863404 | CERS1,GDF1 | c.*642C>G (n.*642C>G) c.373C>G (p.Pro125Ala) c.*1234C>G (n.*1234C>G) | |
19 | g.18869343G= | CA2326567852 | CERS1,GDF1 | c.*642C= (n.*642C=) c.373C= (p.Pro125=) c.*1234C= (n.*1234C=) | |
19 | g.18869343G>T | CA404863405 | CERS1,GDF1 | c.*642C>A (n.*642C>A) c.373C>A (p.Pro125Thr) c.*1234C>A (n.*1234C>A) | gnomAD v4 |
19 | g.18869346_18869368del | CA9317938 | CERS1,GDF1 | c.*620_*642del (n.*620_*642del) c.351_373del (p.Ala118Ter) c.*1212_*1234del (n.*1212_*1234del) | dbSNP ExAC gnomAD v4 |
19 | g.18869344G>A | CA9317939 | CERS1,GDF1 | c.*641C>T (n.*641C>T) c.372C>T (p.Cys124=) c.*1233C>T (n.*1233C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18869344G>C | CA404863406 | CERS1,GDF1 | c.*641C>G (n.*641C>G) c.372C>G (p.Cys124Trp) c.*1233C>G (n.*1233C>G) | |
19 | g.18869344G= | CA2326567853 | CERS1,GDF1 | c.*641C= (n.*641C=) c.372C= (p.Cys124=) c.*1233C= (n.*1233C=) | |
19 | g.18869344G>T | CA404863407 | CERS1,GDF1 | c.*641C>A (n.*641C>A) c.372C>A (p.Cys124Ter) c.*1233C>A (n.*1233C>A) | dbSNP gnomAD v4 |
19 | g.18869345del | CA2838490374 | CERS1,GDF1 | c.*640del (n.*640del) c.371del (p.Cys124SerfsTer?) c.*1232del (n.*1232del) | |
19 | g.18869345C>A | CA16608982 | CERS1,GDF1 | c.*640G>T (n.*640G>T) c.371G>T (p.Cys124Phe) c.*1232G>T (n.*1232G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869345C= | CA2326567854 | CERS1,GDF1 | c.*640G= (n.*640G=) c.371G= (p.Cys124=) c.*1232G= (n.*1232G=) | |
19 | g.18869345C>G | CA404863408 | CERS1,GDF1 | c.*640G>C (n.*640G>C) c.371G>C (p.Cys124Ser) c.*1232G>C (n.*1232G>C) | |
19 | g.18869345C>T | CA404863409 | CERS1,GDF1 | c.*640G>A (n.*640G>A) c.371G>A (p.Cys124Tyr) c.*1232G>A (n.*1232G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869346A>C | CA404863410 | CERS1,GDF1 | c.*639T>G (n.*639T>G) c.370T>G (p.Cys124Gly) c.*1231T>G (n.*1231T>G) | |
19 | g.18869346A>G | CA404863412 | CERS1,GDF1 | c.*639T>C (n.*639T>C) c.370T>C (p.Cys124Arg) c.*1231T>C (n.*1231T>C) | |
19 | g.18869346A>T | CA404863411 | CERS1,GDF1 | c.*639T>A (n.*639T>A) c.370T>A (p.Cys124Ser) c.*1231T>A (n.*1231T>A) | gnomAD v4 |
19 | g.18869347A>C | CA404863413 | CERS1,GDF1 | c.*638T>G (n.*638T>G) c.369T>G (p.His123Gln) c.*1230T>G (n.*1230T>G) | |
19 | g.18869347A>G | CA506118286 | CERS1,GDF1 | c.*638T>C (n.*638T>C) c.369T>C (p.His123=) c.*1230T>C (n.*1230T>C) | gnomAD v4 |
19 | g.18869347A>T | CA404863414 | CERS1,GDF1 | c.*638T>A (n.*638T>A) c.369T>A (p.His123Gln) c.*1230T>A (n.*1230T>A) | gnomAD v4 |
19 | g.18869348T>A | CA404863415 | CERS1,GDF1 | c.*637A>T (n.*637A>T) c.368A>T (p.His123Leu) c.*1229A>T (n.*1229A>T) | |
19 | g.18869348T>C | CA404863416 | CERS1,GDF1 | c.*637A>G (n.*637A>G) c.368A>G (p.His123Arg) c.*1229A>G (n.*1229A>G) | gnomAD v4 |
19 | g.18869348T>G | CA404863417 | CERS1,GDF1 | c.*637A>C (n.*637A>C) c.368A>C (p.His123Pro) c.*1229A>C (n.*1229A>C) | |
19 | g.18869349G>A | CA404863418 | CERS1,GDF1 | c.*636C>T (n.*636C>T) c.367C>T (p.His123Tyr) c.*1228C>T (n.*1228C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869349G>C | CA404863419 | CERS1,GDF1 | c.*636C>G (n.*636C>G) c.367C>G (p.His123Asp) c.*1228C>G (n.*1228C>G) | |
19 | g.18869349G= | CA2326567855 | CERS1,GDF1 | c.*636C= (n.*636C=) c.367C= (p.His123=) c.*1228C= (n.*1228C=) | |
19 | g.18869349G>T | CA9317940 | CERS1,GDF1 | c.*636C>A (n.*636C>A) c.367C>A (p.His123Asn) c.*1228C>A (n.*1228C>A) | dbSNP ExAC gnomAD v4 |
19 | g.18869350C>A | CA506118290 | CERS1,GDF1 | c.*635G>T (n.*635G>T) c.366G>T (p.Gly122=) c.*1227G>T (n.*1227G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18869350C= | CA2326567856 | CERS1,GDF1 | c.*635G= (n.*635G=) c.366G= (p.Gly122=) c.*1227G= (n.*1227G=) | |
19 | g.18869350C>G | CA506118292 | CERS1,GDF1 | c.*635G>C (n.*635G>C) c.366G>C (p.Gly122=) c.*1227G>C (n.*1227G>C) | |
19 | g.18869350C>T | CA506118295 | CERS1,GDF1 | c.*635G>A (n.*635G>A) c.366G>A (p.Gly122=) c.*1227G>A (n.*1227G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869353del | CA2583634800 | CERS1,GDF1 | c.*635del (n.*635del) c.366del (p.His123IlefsTer?) c.*1227del (n.*1227del) | gnomAD v4 |