Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18868713_18868728delinsGCAGGTCGGCGGCTCC | CA2326567498 | CERS1,GDF1 | c.*1257_*1272delinsGGAGCCGCCGACCTGC (n.*1257_*1272delinsGGAGCCGCCGACCTGC) c.988_1003delinsGGAGCCGCCGACCTGC (p.Gly330=) c.*1849_*1864delinsGGAGCCGCCGACCTGC (n.*1849_*1864delinsGGAGCCGCCGACCTGC) | |
19 | g.18868715_18868776del | CA2583634700 | CERS1,GDF1 | c.*1211_*1272del (n.*1211_*1272del) c.942_1003del (p.Asn316LeufsTer15) c.*1803_*1864del (n.*1803_*1864del) | gnomAD v4 |
19 | g.18868715_18868729del | CA994235450 | CERS1,GDF1 | c.*1257_*1271del (n.*1257_*1271del) c.988_1002del (p.Gly330_Leu334del) c.*1849_*1863del (n.*1849_*1863del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868718_18868775del | CA2583634701 | CERS1,GDF1 | c.*1211_*1268del (n.*1211_*1268del) c.942_999del (p.Leu315CysfsTer?) c.*1803_*1860del (n.*1803_*1860del) | gnomAD v4 |
19 | g.18868726_18868783del | CA2583634702 | CERS1,GDF1 | c.*1209_*1266del (n.*1209_*1266del) c.940_997del (p.Ala314ThrfsTer?) c.*1801_*1858del (n.*1801_*1858del) | gnomAD v4 |
19 | g.18868727C>A | CA404861946 | CERS1,GDF1 | c.*1258G>T (n.*1258G>T) c.989G>T (p.Gly330Val) c.*1850G>T (n.*1850G>T) | |
19 | g.18868727C>G | CA404861947 | CERS1,GDF1 | c.*1258G>C (n.*1258G>C) c.989G>C (p.Gly330Ala) c.*1850G>C (n.*1850G>C) | |
19 | g.18868727C>T | CA404861948 | CERS1,GDF1 | c.*1258G>A (n.*1258G>A) c.989G>A (p.Gly330Glu) c.*1850G>A (n.*1850G>A) | gnomAD v4 |
19 | g.18868729del | CA2583634703 | CERS1,GDF1 | c.*1258del (n.*1258del) c.989del (p.Gly330GlufsTer?) c.*1850del (n.*1850del) | gnomAD v4 |
19 | g.18868728_18868729del | CA2583634704 | CERS1,GDF1 | c.*1257_*1258del (n.*1257_*1258del) c.988_989del (p.Gly330SerfsTer21) c.*1849_*1850del (n.*1849_*1850del) | gnomAD v4 |
19 | g.18868728C>A | CA404861949 | CERS1,GDF1 | c.*1257G>T (n.*1257G>T) c.988G>T (p.Gly330Ter) c.*1849G>T (n.*1849G>T) | |
19 | g.18868728C>G | CA404861950 | CERS1,GDF1 | c.*1257G>C (n.*1257G>C) c.988G>C (p.Gly330Arg) c.*1849G>C (n.*1849G>C) | |
19 | g.18868728C>T | CA404861951 | CERS1,GDF1 | c.*1257G>A (n.*1257G>A) c.988G>A (p.Gly330Arg) c.*1849G>A (n.*1849G>A) | |
19 | g.18868729C>A | CA506118283 | CERS1,GDF1 | c.*1256G>T (n.*1256G>T) c.987G>T (p.Pro329=) c.*1848G>T (n.*1848G>T) | gnomAD v4 |
19 | g.18868729C= | CA2326567505 | CERS1,GDF1 | c.*1256G= (n.*1256G=) c.987G= (p.Pro329=) c.*1848G= (n.*1848G=) | |
19 | g.18868729C>G | CA506118284 | CERS1,GDF1 | c.*1256G>C (n.*1256G>C) c.987G>C (p.Pro329=) c.*1848G>C (n.*1848G>C) | |
19 | g.18868729C>T | CA9317910 | CERS1,GDF1 | c.*1256G>A (n.*1256G>A) c.987G>A (p.Pro329=) c.*1848G>A (n.*1848G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868730G>A | CA404861953 | CERS1,GDF1 | c.*1255C>T (n.*1255C>T) c.986C>T (p.Pro329Leu) c.*1847C>T (n.*1847C>T) | gnomAD v4 |
19 | g.18868730G>C | CA404861954 | CERS1,GDF1 | c.*1255C>G (n.*1255C>G) c.986C>G (p.Pro329Arg) c.*1847C>G (n.*1847C>G) | gnomAD v4 |
19 | g.18868730G>T | CA404861952 | CERS1,GDF1 | c.*1255C>A (n.*1255C>A) c.986C>A (p.Pro329Gln) c.*1847C>A (n.*1847C>A) | gnomAD v4 |
19 | g.18868733del | CA2583634705 | CERS1,GDF1 | c.*1255del (n.*1255del) c.986del (p.Pro329ArgfsTer?) c.*1847del (n.*1847del) | gnomAD v4 |
19 | g.18868731G>A | CA9317911 | CERS1,GDF1 | c.*1254C>T (n.*1254C>T) c.985C>T (p.Pro329Ser) c.*1846C>T (n.*1846C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868731G>C | CA404861955 | CERS1,GDF1 | c.*1254C>G (n.*1254C>G) c.985C>G (p.Pro329Ala) c.*1846C>G (n.*1846C>G) | gnomAD v4 |
19 | g.18868731G= | CA2326567506 | CERS1,GDF1 | c.*1254C= (n.*1254C=) c.985C= (p.Pro329=) c.*1846C= (n.*1846C=) | |
19 | g.18868731G>T | CA404861956 | CERS1,GDF1 | c.*1254C>A (n.*1254C>A) c.985C>A (p.Pro329Thr) c.*1846C>A (n.*1846C>A) | dbSNP gnomAD v4 |
19 | g.18868732G>A | CA506118287 | CERS1,GDF1 | c.*1253C>T (n.*1253C>T) c.984C>T (p.Ala328=) c.*1845C>T (n.*1845C>T) | |
19 | g.18868732G>C | CA9317912 | CERS1,GDF1 | c.*1253C>G (n.*1253C>G) c.984C>G (p.Ala328=) c.*1845C>G (n.*1845C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868732G= | CA2326567507 | CERS1,GDF1 | c.*1253C= (n.*1253C=) c.984C= (p.Ala328=) c.*1845C= (n.*1845C=) | |
19 | g.18868732G>T | CA506118288 | CERS1,GDF1 | c.*1253C>A (n.*1253C>A) c.984C>A (p.Ala328=) c.*1845C>A (n.*1845C>A) | |
19 | g.18868733G>A | CA404861957 | CERS1,GDF1 | c.*1252C>T (n.*1252C>T) c.983C>T (p.Ala328Val) c.*1844C>T (n.*1844C>T) | |
19 | g.18868733G>C | CA404861958 | CERS1,GDF1 | c.*1252C>G (n.*1252C>G) c.983C>G (p.Ala328Gly) c.*1844C>G (n.*1844C>G) | |
19 | g.18868733G= | CA2326567508 | CERS1,GDF1 | c.*1252C= (n.*1252C=) c.983C= (p.Ala328=) c.*1844C= (n.*1844C=) | |
19 | g.18868733G>T | CA404861959 | CERS1,GDF1 | c.*1252C>A (n.*1252C>A) c.983C>A (p.Ala328Asp) c.*1844C>A (n.*1844C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868734C>A | CA404861960 | CERS1,GDF1 | c.*1251G>T (n.*1251G>T) c.982G>T (p.Ala328Ser) c.*1843G>T (n.*1843G>T) | gnomAD v4 |
19 | g.18868734C>G | CA404861961 | CERS1,GDF1 | c.*1251G>C (n.*1251G>C) c.982G>C (p.Ala328Pro) c.*1843G>C (n.*1843G>C) | |
19 | g.18868734C>T | CA404861962 | CERS1,GDF1 | c.*1251G>A (n.*1251G>A) c.982G>A (p.Ala328Thr) c.*1843G>A (n.*1843G>A) | gnomAD v4 |
19 | g.18868735G>A | CA506118291 | CERS1,GDF1 | c.*1250C>T (n.*1250C>T) c.981C>T (p.Ala327=) c.*1842C>T (n.*1842C>T) | gnomAD v4 |
19 | g.18868735G>C | CA506118293 | CERS1,GDF1 | c.*1250C>G (n.*1250C>G) c.981C>G (p.Ala327=) c.*1842C>G (n.*1842C>G) | |
19 | g.18868735G>T | CA506118296 | CERS1,GDF1 | c.*1250C>A (n.*1250C>A) c.981C>A (p.Ala327=) c.*1842C>A (n.*1842C>A) | |
19 | g.18868736G>A | CA404861963 | CERS1,GDF1 | c.*1249C>T (n.*1249C>T) c.980C>T (p.Ala327Val) c.*1841C>T (n.*1841C>T) | dbSNP gnomAD v4 |
19 | g.18868736G>C | CA404861964 | CERS1,GDF1 | c.*1249C>G (n.*1249C>G) c.980C>G (p.Ala327Gly) c.*1841C>G (n.*1841C>G) | |
19 | g.18868736G= | CA2326567509 | CERS1,GDF1 | c.*1249C= (n.*1249C=) c.980C= (p.Ala327=) c.*1841C= (n.*1841C=) | |
19 | g.18868736G>T | CA404861965 | CERS1,GDF1 | c.*1249C>A (n.*1249C>A) c.980C>A (p.Ala327Asp) c.*1841C>A (n.*1841C>A) | |
19 | g.18868737C>A | CA404861968 | CERS1,GDF1 | c.*1248G>T (n.*1248G>T) c.979G>T (p.Ala327Ser) c.*1840G>T (n.*1840G>T) | |
19 | g.18868737C= | CA2326567510 | CERS1,GDF1 | c.*1248G= (n.*1248G=) c.979G= (p.Ala327=) c.*1840G= (n.*1840G=) | |
19 | g.18868737C>G | CA404861966 | CERS1,GDF1 | c.*1248G>C (n.*1248G>C) c.979G>C (p.Ala327Pro) c.*1840G>C (n.*1840G>C) | dbSNP |
19 | g.18868737C>T | CA404861967 | CERS1,GDF1 | c.*1248G>A (n.*1248G>A) c.979G>A (p.Ala327Thr) c.*1840G>A (n.*1840G>A) | gnomAD v4 |
19 | g.18868738C>A | CA506118298 | CERS1,GDF1 | c.*1247G>T (n.*1247G>T) c.978G>T (p.Ala326=) c.*1839G>T (n.*1839G>T) | |
19 | g.18868738C>G | CA506118300 | CERS1,GDF1 | c.*1247G>C (n.*1247G>C) c.978G>C (p.Ala326=) c.*1839G>C (n.*1839G>C) | |
19 | g.18868738C>T | CA506118299 | CERS1,GDF1 | c.*1247G>A (n.*1247G>A) c.978G>A (p.Ala326=) c.*1839G>A (n.*1839G>A) | gnomAD v4 |
19 | g.18868739G>A | CA404861969 | CERS1,GDF1 | c.*1246C>T (n.*1246C>T) c.977C>T (p.Ala326Val) c.*1838C>T (n.*1838C>T) | gnomAD v4 |
19 | g.18868739G>C | CA404861970 | CERS1,GDF1 | c.*1246C>G (n.*1246C>G) c.977C>G (p.Ala326Gly) c.*1838C>G (n.*1838C>G) | ClinVar |
19 | g.18868739G>T | CA404861971 | CERS1,GDF1 | c.*1246C>A (n.*1246C>A) c.977C>A (p.Ala326Glu) c.*1838C>A (n.*1838C>A) | |
19 | g.18868740C>A | CA404861972 | CERS1,GDF1 | c.*1245G>T (n.*1245G>T) c.976G>T (p.Ala326Ser) c.*1837G>T (n.*1837G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868740C= | CA2326567511 | CERS1,GDF1 | c.*1245G= (n.*1245G=) c.976G= (p.Ala326=) c.*1837G= (n.*1837G=) | |
19 | g.18868740C>G | CA404861973 | CERS1,GDF1 | c.*1245G>C (n.*1245G>C) c.976G>C (p.Ala326Pro) c.*1837G>C (n.*1837G>C) | |
19 | g.18868740C>T | CA306231578 | CERS1,GDF1 | c.*1245G>A (n.*1245G>A) c.976G>A (p.Ala326Thr) c.*1837G>A (n.*1837G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868741G>A | CA506118305 | CERS1,GDF1 | c.*1244C>T (n.*1244C>T) c.975C>T (p.His325=) c.*1836C>T (n.*1836C>T) | gnomAD v4 |
19 | g.18868741G>C | CA404861974 | CERS1,GDF1 | c.*1244C>G (n.*1244C>G) c.975C>G (p.His325Gln) c.*1836C>G (n.*1836C>G) | dbSNP |
19 | g.18868741G= | CA2326567512 | CERS1,GDF1 | c.*1244C= (n.*1244C=) c.975C= (p.His325=) c.*1836C= (n.*1836C=) | |
19 | g.18868741G>T | CA404861975 | CERS1,GDF1 | c.*1244C>A (n.*1244C>A) c.975C>A (p.His325Gln) c.*1836C>A (n.*1836C>A) | |
19 | g.18868742T>A | CA404861976 | CERS1,GDF1 | c.*1243A>T (n.*1243A>T) c.974A>T (p.His325Leu) c.*1835A>T (n.*1835A>T) | gnomAD v4 |
19 | g.18868742T>C | CA404861977 | CERS1,GDF1 | c.*1243A>G (n.*1243A>G) c.974A>G (p.His325Arg) c.*1835A>G (n.*1835A>G) | |
19 | g.18868742T>G | CA404861978 | CERS1,GDF1 | c.*1243A>C (n.*1243A>C) c.974A>C (p.His325Pro) c.*1835A>C (n.*1835A>C) | dbSNP |
19 | g.18868742T= | CA2326567513 | CERS1,GDF1 | c.*1243A= (n.*1243A=) c.974A= (p.His325=) c.*1835A= (n.*1835A=) | |
19 | g.18868743G>A | CA404861980 | CERS1,GDF1 | c.*1242C>T (n.*1242C>T) c.973C>T (p.His325Tyr) c.*1834C>T (n.*1834C>T) | |
19 | g.18868743G>C | CA404861981 | CERS1,GDF1 | c.*1242C>G (n.*1242C>G) c.973C>G (p.His325Asp) c.*1834C>G (n.*1834C>G) | |
19 | g.18868743G>T | CA404861979 | CERS1,GDF1 | c.*1242C>A (n.*1242C>A) c.973C>A (p.His325Asn) c.*1834C>A (n.*1834C>A) | gnomAD v4 |
19 | g.18868744C>A | CA404861982 | CERS1,GDF1 | c.*1241G>T (n.*1241G>T) c.972G>T (p.Met324Ile) c.*1833G>T (n.*1833G>T) | |
19 | g.18868744C>G | CA404861983 | CERS1,GDF1 | c.*1241G>C (n.*1241G>C) c.972G>C (p.Met324Ile) c.*1833G>C (n.*1833G>C) | |
19 | g.18868744C>T | CA404861984 | CERS1,GDF1 | c.*1241G>A (n.*1241G>A) c.972G>A (p.Met324Ile) c.*1833G>A (n.*1833G>A) | |
19 | g.18868745A= | CA2326567514 | CERS1,GDF1 | c.*1240T= (n.*1240T=) c.971T= (p.Met324=) c.*1832T= (n.*1832T=) | |
19 | g.18868745A>C | CA404861985 | CERS1,GDF1 | c.*1240T>G (n.*1240T>G) c.971T>G (p.Met324Arg) c.*1832T>G (n.*1832T>G) | |
19 | g.18868745A>G | CA404861986 | CERS1,GDF1 | c.*1240T>C (n.*1240T>C) c.971T>C (p.Met324Thr) c.*1832T>C (n.*1832T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868745A>T | CA404861987 | CERS1,GDF1 | c.*1240T>A (n.*1240T>A) c.971T>A (p.Met324Lys) c.*1832T>A (n.*1832T>A) | |
19 | g.18868746T>A | CA404861988 | CERS1,GDF1 | c.*1239A>T (n.*1239A>T) c.970A>T (p.Met324Leu) c.*1831A>T (n.*1831A>T) | |
19 | g.18868746T>C | CA404861989 | CERS1,GDF1 | c.*1239A>G (n.*1239A>G) c.970A>G (p.Met324Val) c.*1831A>G (n.*1831A>G) | dbSNP |
19 | g.18868746T>G | CA404861990 | CERS1,GDF1 | c.*1239A>C (n.*1239A>C) c.970A>C (p.Met324Leu) c.*1831A>C (n.*1831A>C) | |
19 | g.18868746T= | CA2326567515 | CERS1,GDF1 | c.*1239A= (n.*1239A=) c.970A= (p.Met324=) c.*1831A= (n.*1831A=) | |
19 | g.18868746_18868747del | CA2842543600 | CERS1,GDF1 | c.*1238_*1239del (n.*1238_*1239del) c.969_970del (p.Met324AlafsTer27) c.*1830_*1831del (n.*1830_*1831del) | |
19 | g.18868747G>A | CA506118329 | CERS1,GDF1 | c.*1238C>T (n.*1238C>T) c.969C>T (p.Leu323=) c.*1830C>T (n.*1830C>T) | |
19 | g.18868747G>C | CA506118323 | CERS1,GDF1 | c.*1238C>G (n.*1238C>G) c.969C>G (p.Leu323=) c.*1830C>G (n.*1830C>G) | |
19 | g.18868747G>T | CA506118327 | CERS1,GDF1 | c.*1238C>A (n.*1238C>A) c.969C>A (p.Leu323=) c.*1830C>A (n.*1830C>A) | gnomAD v4 |
19 | g.18868748_18868749dup | CA632627114 | CERS1,GDF1 | c.*1237_*1238dup (n.*1237_*1238dup) c.968_969dup (p.Met324SerfsTer?) c.*1829_*1830dup (n.*1829_*1830dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868748A>C | CA404861991 | CERS1,GDF1 | c.*1237T>G (n.*1237T>G) c.968T>G (p.Leu323Arg) c.*1829T>G (n.*1829T>G) | |
19 | g.18868748A>G | CA404861992 | CERS1,GDF1 | c.*1237T>C (n.*1237T>C) c.968T>C (p.Leu323Pro) c.*1829T>C (n.*1829T>C) | |
19 | g.18868748A>T | CA404861993 | CERS1,GDF1 | c.*1237T>A (n.*1237T>A) c.968T>A (p.Leu323His) c.*1829T>A (n.*1829T>A) | |
19 | g.18868749G>A | CA404861995 | CERS1,GDF1 | c.*1236C>T (n.*1236C>T) c.967C>T (p.Leu323Phe) c.*1828C>T (n.*1828C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868749G>C | CA404861996 | CERS1,GDF1 | c.*1236C>G (n.*1236C>G) c.967C>G (p.Leu323Val) c.*1828C>G (n.*1828C>G) | gnomAD v4 |
19 | g.18868749G= | CA2326567516 | CERS1,GDF1 | c.*1236C= (n.*1236C=) c.967C= (p.Leu323=) c.*1828C= (n.*1828C=) | |
19 | g.18868749G>T | CA404861994 | CERS1,GDF1 | c.*1236C>A (n.*1236C>A) c.967C>A (p.Leu323Ile) c.*1828C>A (n.*1828C>A) | |
19 | g.18868750C>A | CA506118335 | CERS1,GDF1 | c.*1235G>T (n.*1235G>T) c.966G>T (p.Ala322=) c.*1827G>T (n.*1827G>T) | |
19 | g.18868750C>G | CA506118337 | CERS1,GDF1 | c.*1235G>C (n.*1235G>C) c.966G>C (p.Ala322=) c.*1827G>C (n.*1827G>C) | |
19 | g.18868750C>T | CA506118338 | CERS1,GDF1 | c.*1235G>A (n.*1235G>A) c.966G>A (p.Ala322=) c.*1827G>A (n.*1827G>A) | gnomAD v4 |
19 | g.18868751G>A | CA404861997 | CERS1,GDF1 | c.*1234C>T (n.*1234C>T) c.965C>T (p.Ala322Val) c.*1826C>T (n.*1826C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868751G>C | CA404861998 | CERS1,GDF1 | c.*1234C>G (n.*1234C>G) c.965C>G (p.Ala322Gly) c.*1826C>G (n.*1826C>G) | |
19 | g.18868751G= | CA2326567517 | CERS1,GDF1 | c.*1234C= (n.*1234C=) c.965C= (p.Ala322=) c.*1826C= (n.*1826C=) | |
19 | g.18868751G>T | CA404861999 | CERS1,GDF1 | c.*1234C>A (n.*1234C>A) c.965C>A (p.Ala322Glu) c.*1826C>A (n.*1826C>A) | |
19 | g.18868752C>A | CA404862000 | CERS1,GDF1 | c.*1233G>T (n.*1233G>T) c.964G>T (p.Ala322Ser) c.*1825G>T (n.*1825G>T) | |
19 | g.18868752C= | CA2326567518 | CERS1,GDF1 | c.*1233G= (n.*1233G=) c.964G= (p.Ala322=) c.*1825G= (n.*1825G=) | |
19 | g.18868752C>G | CA404862001 | CERS1,GDF1 | c.*1233G>C (n.*1233G>C) c.964G>C (p.Ala322Pro) c.*1825G>C (n.*1825G>C) | |
19 | g.18868752C>T | CA404862002 | CERS1,GDF1 | c.*1233G>A (n.*1233G>A) c.964G>A (p.Ala322Thr) c.*1825G>A (n.*1825G>A) | dbSNP gnomAD v4 |
19 | g.18868753G>A | CA506118350 | CERS1,GDF1 | c.*1232C>T (n.*1232C>T) c.963C>T (p.Arg321=) c.*1824C>T (n.*1824C>T) | gnomAD v4 |
19 | g.18868753G>C | CA506118351 | CERS1,GDF1 | c.*1232C>G (n.*1232C>G) c.963C>G (p.Arg321=) c.*1824C>G (n.*1824C>G) | |
19 | g.18868753G= | CA2326567519 | CERS1,GDF1 | c.*1232C= (n.*1232C=) c.963C= (p.Arg321=) c.*1824C= (n.*1824C=) | |
19 | g.18868753G>T | CA506118353 | CERS1,GDF1 | c.*1232C>A (n.*1232C>A) c.963C>A (p.Arg321=) c.*1824C>A (n.*1824C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.18868754C>A | CA404862005 | CERS1,GDF1 | c.*1231G>T (n.*1231G>T) c.962G>T (p.Arg321Leu) c.*1823G>T (n.*1823G>T) | gnomAD v4 |
19 | g.18868754C>G | CA404862003 | CERS1,GDF1 | c.*1231G>C (n.*1231G>C) c.962G>C (p.Arg321Pro) c.*1823G>C (n.*1823G>C) | |
19 | g.18868754C>T | CA404862004 | CERS1,GDF1 | c.*1231G>A (n.*1231G>A) c.962G>A (p.Arg321His) c.*1823G>A (n.*1823G>A) | gnomAD v4 |
19 | g.18868755G>A | CA404862006 | CERS1,GDF1 | c.*1230C>T (n.*1230C>T) c.961C>T (p.Arg321Cys) c.*1822C>T (n.*1822C>T) | dbSNP |
19 | g.18868755G>C | CA404862007 | CERS1,GDF1 | c.*1230C>G (n.*1230C>G) c.961C>G (p.Arg321Gly) c.*1822C>G (n.*1822C>G) | |
19 | g.18868755G>T | CA404862008 | CERS1,GDF1 | c.*1230C>A (n.*1230C>A) c.961C>A (p.Arg321Ser) c.*1822C>A (n.*1822C>A) | |
19 | g.18868756C>A | CA506118359 | CERS1,GDF1 | c.*1229G>T (n.*1229G>T) c.960G>T (p.Leu320=) c.*1821G>T (n.*1821G>T) | gnomAD v4 |
19 | g.18868756C>G | CA506118361 | CERS1,GDF1 | c.*1229G>C (n.*1229G>C) c.960G>C (p.Leu320=) c.*1821G>C (n.*1821G>C) | |
19 | g.18868756C>T | CA506118362 | CERS1,GDF1 | c.*1229G>A (n.*1229G>A) c.960G>A (p.Leu320=) c.*1821G>A (n.*1821G>A) | |
19 | g.18868757A= | CA2326567520 | CERS1,GDF1 | c.*1228T= (n.*1228T=) c.959T= (p.Leu320=) c.*1820T= (n.*1820T=) | |
19 | g.18868757A>C | CA404862009 | CERS1,GDF1 | c.*1228T>G (n.*1228T>G) c.959T>G (p.Leu320Arg) c.*1820T>G (n.*1820T>G) | |
19 | g.18868757A>G | CA9317913 | CERS1,GDF1 | c.*1228T>C (n.*1228T>C) c.959T>C (p.Leu320Pro) c.*1820T>C (n.*1820T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868757A>T | CA404862010 | CERS1,GDF1 | c.*1228T>A (n.*1228T>A) c.959T>A (p.Leu320Gln) c.*1820T>A (n.*1820T>A) | |
19 | g.18868758G>A | CA506118363 | CERS1,GDF1 | c.*1227C>T (n.*1227C>T) c.958C>T (p.Leu320=) c.*1819C>T (n.*1819C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868758G>C | CA404862012 | CERS1,GDF1 | c.*1227C>G (n.*1227C>G) c.958C>G (p.Leu320Val) c.*1819C>G (n.*1819C>G) | |
19 | g.18868758G= | CA2326567521 | CERS1,GDF1 | c.*1227C= (n.*1227C=) c.958C= (p.Leu320=) c.*1819C= (n.*1819C=) | |
19 | g.18868758G>T | CA404862011 | CERS1,GDF1 | c.*1227C>A (n.*1227C>A) c.958C>A (p.Leu320Met) c.*1819C>A (n.*1819C>A) | gnomAD v4 |
19 | g.18868759C>A | CA506118364 | CERS1,GDF1 | c.*1226G>T (n.*1226G>T) c.957G>T (p.Val319=) c.*1818G>T (n.*1818G>T) | gnomAD v4 |
19 | g.18868759C>G | CA506118365 | CERS1,GDF1 | c.*1226G>C (n.*1226G>C) c.957G>C (p.Val319=) c.*1818G>C (n.*1818G>C) | |
19 | g.18868759C>T | CA506118366 | CERS1,GDF1 | c.*1226G>A (n.*1226G>A) c.957G>A (p.Val319=) c.*1818G>A (n.*1818G>A) | gnomAD v4 |
19 | g.18868760A>C | CA404862013 | CERS1,GDF1 | c.*1225T>G (n.*1225T>G) c.956T>G (p.Val319Gly) c.*1817T>G (n.*1817T>G) | |
19 | g.18868760A>G | CA404862015 | CERS1,GDF1 | c.*1225T>C (n.*1225T>C) c.956T>C (p.Val319Ala) c.*1817T>C (n.*1817T>C) | |
19 | g.18868760A>T | CA404862014 | CERS1,GDF1 | c.*1225T>A (n.*1225T>A) c.956T>A (p.Val319Glu) c.*1817T>A (n.*1817T>A) | |
19 | g.18868761C>A | CA404862016 | CERS1,GDF1 | c.*1224G>T (n.*1224G>T) c.955G>T (p.Val319Leu) c.*1816G>T (n.*1816G>T) | |
19 | g.18868761C>G | CA404862018 | CERS1,GDF1 | c.*1224G>C (n.*1224G>C) c.955G>C (p.Val319Leu) c.*1816G>C (n.*1816G>C) | |
19 | g.18868761C>T | CA404862017 | CERS1,GDF1 | c.*1224G>A (n.*1224G>A) c.955G>A (p.Val319Met) c.*1816G>A (n.*1816G>A) | gnomAD v4 |
19 | g.18868762A>C | CA506118374 | CERS1,GDF1 | c.*1223T>G (n.*1223T>G) c.954T>G (p.Ala318=) c.*1815T>G (n.*1815T>G) | gnomAD v3 gnomAD v4 |
19 | g.18868762A>G | CA506118375 | CERS1,GDF1 | c.*1223T>C (n.*1223T>C) c.954T>C (p.Ala318=) c.*1815T>C (n.*1815T>C) | |
19 | g.18868762A>T | CA506118376 | CERS1,GDF1 | c.*1223T>A (n.*1223T>A) c.954T>A (p.Ala318=) c.*1815T>A (n.*1815T>A) | |
19 | g.18868763G>A | CA404862019 | CERS1,GDF1 | c.*1222C>T (n.*1222C>T) c.953C>T (p.Ala318Val) c.*1814C>T (n.*1814C>T) | gnomAD v4 |
19 | g.18868763G>C | CA404862020 | CERS1,GDF1 | c.*1222C>G (n.*1222C>G) c.953C>G (p.Ala318Gly) c.*1814C>G (n.*1814C>G) | |
19 | g.18868763G= | CA2326567522 | CERS1,GDF1 | c.*1222C= (n.*1222C=) c.953C= (p.Ala318=) c.*1814C= (n.*1814C=) | |
19 | g.18868763G>T | CA404862021 | CERS1,GDF1 | c.*1222C>A (n.*1222C>A) c.953C>A (p.Ala318Asp) c.*1814C>A (n.*1814C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868764C>A | CA404862022 | CERS1,GDF1 | c.*1221G>T (n.*1221G>T) c.952G>T (p.Ala318Ser) c.*1813G>T (n.*1813G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868764C= | CA2326567523 | CERS1,GDF1 | c.*1221G= (n.*1221G=) c.952G= (p.Ala318=) c.*1813G= (n.*1813G=) | |
19 | g.18868764C>G | CA404862023 | CERS1,GDF1 | c.*1221G>C (n.*1221G>C) c.952G>C (p.Ala318Pro) c.*1813G>C (n.*1813G>C) | |
19 | g.18868764C>T | CA16620815 | CERS1,GDF1 | c.*1221G>A (n.*1221G>A) c.952G>A (p.Ala318Thr) c.*1813G>A (n.*1813G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868765G>A | CA306231583 | CERS1,GDF1 | c.*1220C>T (n.*1220C>T) c.951C>T (p.His317=) c.*1812C>T (n.*1812C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868765G>C | CA404862024 | CERS1,GDF1 | c.*1220C>G (n.*1220C>G) c.951C>G (p.His317Gln) c.*1812C>G (n.*1812C>G) | |
19 | g.18868765G= | CA2326567524 | CERS1,GDF1 | c.*1220C= (n.*1220C=) c.951C= (p.His317=) c.*1812C= (n.*1812C=) | |
19 | g.18868765G>T | CA404862025 | CERS1,GDF1 | c.*1220C>A (n.*1220C>A) c.951C>A (p.His317Gln) c.*1812C>A (n.*1812C>A) | |
19 | g.18868766T>A | CA404862026 | CERS1,GDF1 | c.*1219A>T (n.*1219A>T) c.950A>T (p.His317Leu) c.*1811A>T (n.*1811A>T) | |
19 | g.18868766T>C | CA404862027 | CERS1,GDF1 | c.*1219A>G (n.*1219A>G) c.950A>G (p.His317Arg) c.*1811A>G (n.*1811A>G) | |
19 | g.18868766T>G | CA404862028 | CERS1,GDF1 | c.*1219A>C (n.*1219A>C) c.950A>C (p.His317Pro) c.*1811A>C (n.*1811A>C) | |
19 | g.18868766_18868767insC | CA2583634706 | CERS1,GDF1 | c.*1218_*1219insG (n.*1218_*1219insG) c.949_950insG (p.His317ArgfsTer?) c.*1810_*1811insG (n.*1810_*1811insG) | gnomAD v4 |
19 | g.18868767G>A | CA404862031 | CERS1,GDF1 | c.*1218C>T (n.*1218C>T) c.949C>T (p.His317Tyr) c.*1810C>T (n.*1810C>T) | |
19 | g.18868767G>C | CA404862030 | CERS1,GDF1 | c.*1218C>G (n.*1218C>G) c.949C>G (p.His317Asp) c.*1810C>G (n.*1810C>G) | |
19 | g.18868767G>T | CA404862029 | CERS1,GDF1 | c.*1218C>A (n.*1218C>A) c.949C>A (p.His317Asn) c.*1810C>A (n.*1810C>A) | gnomAD v4 |
19 | g.18868768dup | CA2839243538 | CERS1,GDF1 | c.*1218dup (n.*1218dup) c.949dup (p.His317ProfsTer?) c.*1810dup (n.*1810dup) | |
19 | g.18868769_18868790del | CA2583634707 | CERS1,GDF1 | c.*1197_*1218del (n.*1197_*1218del) c.928_949del (p.Gly310ThrfsTer?) c.*1789_*1810del (n.*1789_*1810del) | gnomAD v4 |
19 | g.18868768G>A | CA506118384 | CERS1,GDF1 | c.*1217C>T (n.*1217C>T) c.948C>T (p.Asn316=) c.*1809C>T (n.*1809C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868768G>C | CA404862032 | CERS1,GDF1 | c.*1217C>G (n.*1217C>G) c.948C>G (p.Asn316Lys) c.*1809C>G (n.*1809C>G) | gnomAD v4 |
19 | g.18868768G= | CA2326567525 | CERS1,GDF1 | c.*1217C= (n.*1217C=) c.948C= (p.Asn316=) c.*1809C= (n.*1809C=) | |
19 | g.18868768G>T | CA404862033 | CERS1,GDF1 | c.*1217C>A (n.*1217C>A) c.948C>A (p.Asn316Lys) c.*1809C>A (n.*1809C>A) | gnomAD v4 |
19 | g.18868769T>A | CA404862034 | CERS1,GDF1 | c.*1216A>T (n.*1216A>T) c.947A>T (p.Asn316Ile) c.*1808A>T (n.*1808A>T) | |
19 | g.18868769T>C | CA306231585 | CERS1,GDF1 | c.*1216A>G (n.*1216A>G) c.947A>G (p.Asn316Ser) c.*1808A>G (n.*1808A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868769T>G | CA404862035 | CERS1,GDF1 | c.*1216A>C (n.*1216A>C) c.947A>C (p.Asn316Thr) c.*1808A>C (n.*1808A>C) | |
19 | g.18868769T= | CA2326567526 | CERS1,GDF1 | c.*1216A= (n.*1216A=) c.947A= (p.Asn316=) c.*1808A= (n.*1808A=) | |
19 | g.18868770T>A | CA404862036 | CERS1,GDF1 | c.*1215A>T (n.*1215A>T) c.946A>T (p.Asn316Tyr) c.*1807A>T (n.*1807A>T) | |
19 | g.18868770T>C | CA404862037 | CERS1,GDF1 | c.*1215A>G (n.*1215A>G) c.946A>G (p.Asn316Asp) c.*1807A>G (n.*1807A>G) | gnomAD v4 |
19 | g.18868770T>G | CA404862038 | CERS1,GDF1 | c.*1215A>C (n.*1215A>C) c.946A>C (p.Asn316His) c.*1807A>C (n.*1807A>C) | |
19 | g.18868771G>A | CA506118395 | CERS1,GDF1 | c.*1214C>T (n.*1214C>T) c.945C>T (p.Leu315=) c.*1806C>T (n.*1806C>T) | dbSNP gnomAD v4 |
19 | g.18868771G>C | CA506118398 | CERS1,GDF1 | c.*1214C>G (n.*1214C>G) c.945C>G (p.Leu315=) c.*1806C>G (n.*1806C>G) | |
19 | g.18868771G= | CA2326567527 | CERS1,GDF1 | c.*1214C= (n.*1214C=) c.945C= (p.Leu315=) c.*1806C= (n.*1806C=) | |
19 | g.18868771G>T | CA506118401 | CERS1,GDF1 | c.*1214C>A (n.*1214C>A) c.945C>A (p.Leu315=) c.*1806C>A (n.*1806C>A) | gnomAD v4 |
19 | g.18868772A>C | CA404862039 | CERS1,GDF1 | c.*1213T>G (n.*1213T>G) c.944T>G (p.Leu315Arg) c.*1805T>G (n.*1805T>G) | |
19 | g.18868772A>G | CA404862040 | CERS1,GDF1 | c.*1213T>C (n.*1213T>C) c.944T>C (p.Leu315Pro) c.*1805T>C (n.*1805T>C) | gnomAD v4 |
19 | g.18868772A>T | CA404862041 | CERS1,GDF1 | c.*1213T>A (n.*1213T>A) c.944T>A (p.Leu315His) c.*1805T>A (n.*1805T>A) | gnomAD v4 |
19 | g.18868773G>A | CA404862044 | CERS1,GDF1 | c.*1212C>T (n.*1212C>T) c.943C>T (p.Leu315Phe) c.*1804C>T (n.*1804C>T) | gnomAD v4 |
19 | g.18868773G>C | CA404862043 | CERS1,GDF1 | c.*1212C>G (n.*1212C>G) c.943C>G (p.Leu315Val) c.*1804C>G (n.*1804C>G) | dbSNP gnomAD v4 |
19 | g.18868773G= | CA2326567528 | CERS1,GDF1 | c.*1212C= (n.*1212C=) c.943C= (p.Leu315=) c.*1804C= (n.*1804C=) | |
19 | g.18868773G>T | CA404862042 | CERS1,GDF1 | c.*1212C>A (n.*1212C>A) c.943C>A (p.Leu315Ile) c.*1804C>A (n.*1804C>A) | |
19 | g.18868774C>A | CA506118410 | CERS1,GDF1 | c.*1211G>T (n.*1211G>T) c.942G>T (p.Ala314=) c.*1803G>T (n.*1803G>T) | gnomAD v4 |
19 | g.18868774C>G | CA506118412 | CERS1,GDF1 | c.*1211G>C (n.*1211G>C) c.942G>C (p.Ala314=) c.*1803G>C (n.*1803G>C) | |
19 | g.18868774C>T | CA506118411 | CERS1,GDF1 | c.*1211G>A (n.*1211G>A) c.942G>A (p.Ala314=) c.*1803G>A (n.*1803G>A) | gnomAD v4 |
19 | g.18868775G>A | CA404862045 | CERS1,GDF1 | c.*1210C>T (n.*1210C>T) c.941C>T (p.Ala314Val) c.*1802C>T (n.*1802C>T) | gnomAD v4 |
19 | g.18868775G>C | CA404862046 | CERS1,GDF1 | c.*1210C>G (n.*1210C>G) c.941C>G (p.Ala314Gly) c.*1802C>G (n.*1802C>G) | |
19 | g.18868775G>T | CA404862047 | CERS1,GDF1 | c.*1210C>A (n.*1210C>A) c.941C>A (p.Ala314Glu) c.*1802C>A (n.*1802C>A) | gnomAD v4 |
19 | g.18868776C>A | CA404862048 | CERS1,GDF1 | c.*1209G>T (n.*1209G>T) c.940G>T (p.Ala314Ser) c.*1801G>T (n.*1801G>T) | gnomAD v4 |
19 | g.18868776C= | CA2326567529 | CERS1,GDF1 | c.*1209G= (n.*1209G=) c.940G= (p.Ala314=) c.*1801G= (n.*1801G=) | |
19 | g.18868776C>G | CA404862049 | CERS1,GDF1 | c.*1209G>C (n.*1209G>C) c.940G>C (p.Ala314Pro) c.*1801G>C (n.*1801G>C) | |
19 | g.18868776C>T | CA404862050 | CERS1,GDF1 | c.*1209G>A (n.*1209G>A) c.940G>A (p.Ala314Thr) c.*1801G>A (n.*1801G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868777C>A | CA506118415 | CERS1,GDF1 | c.*1208G>T (n.*1208G>T) c.939G>T (p.Pro313=) c.*1800G>T (n.*1800G>T) | gnomAD v4 |
19 | g.18868777C>G | CA506118416 | CERS1,GDF1 | c.*1208G>C (n.*1208G>C) c.939G>C (p.Pro313=) c.*1800G>C (n.*1800G>C) | |
19 | g.18868777C>T | CA506118417 | CERS1,GDF1 | c.*1208G>A (n.*1208G>A) c.939G>A (p.Pro313=) c.*1800G>A (n.*1800G>A) | gnomAD v4 |
19 | g.18868778G>A | CA404862051 | CERS1,GDF1 | c.*1207C>T (n.*1207C>T) c.938C>T (p.Pro313Leu) c.*1799C>T (n.*1799C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868778G>C | CA404862052 | CERS1,GDF1 | c.*1207C>G (n.*1207C>G) c.938C>G (p.Pro313Arg) c.*1799C>G (n.*1799C>G) | gnomAD v4 |
19 | g.18868778G= | CA2326567530 | CERS1,GDF1 | c.*1207C= (n.*1207C=) c.938C= (p.Pro313=) c.*1799C= (n.*1799C=) | |
19 | g.18868778G>T | CA404862053 | CERS1,GDF1 | c.*1207C>A (n.*1207C>A) c.938C>A (p.Pro313Gln) c.*1799C>A (n.*1799C>A) | gnomAD v4 |
19 | g.18868778_18868779del | CA2813841585 | CERS1,GDF1 | c.*1206_*1207del (n.*1206_*1207del) c.937_938del (p.Pro313GlyfsTer?) c.*1798_*1799del (n.*1798_*1799del) | |
19 | g.18868779G>A | CA404862054 | CERS1,GDF1 | c.*1206C>T (n.*1206C>T) c.937C>T (p.Pro313Ser) c.*1798C>T (n.*1798C>T) | gnomAD v4 |
19 | g.18868779G>C | CA404862055 | CERS1,GDF1 | c.*1206C>G (n.*1206C>G) c.937C>G (p.Pro313Ala) c.*1798C>G (n.*1798C>G) | gnomAD v4 |
19 | g.18868779G>T | CA404862056 | CERS1,GDF1 | c.*1206C>A (n.*1206C>A) c.937C>A (p.Pro313Thr) c.*1798C>A (n.*1798C>A) | gnomAD v4 |
19 | g.18868780C>A | CA506118429 | CERS1,GDF1 | c.*1205G>T (n.*1205G>T) c.936G>T (p.Pro312=) c.*1797G>T (n.*1797G>T) | gnomAD v4 |
19 | g.18868780C= | CA2326567531 | CERS1,GDF1 | c.*1205G= (n.*1205G=) c.936G= (p.Pro312=) c.*1797G= (n.*1797G=) | |
19 | g.18868780C>G | CA506118425 | CERS1,GDF1 | c.*1205G>C (n.*1205G>C) c.936G>C (p.Pro312=) c.*1797G>C (n.*1797G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868780C>T | CA506118426 | CERS1,GDF1 | c.*1205G>A (n.*1205G>A) c.936G>A (p.Pro312=) c.*1797G>A (n.*1797G>A) | dbSNP gnomAD v4 |
19 | g.18868781G>A | CA9317914 | CERS1,GDF1 | c.*1204C>T (n.*1204C>T) c.935C>T (p.Pro312Leu) c.*1796C>T (n.*1796C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868781G>C | CA404862058 | CERS1,GDF1 | c.*1204C>G (n.*1204C>G) c.935C>G (p.Pro312Arg) c.*1796C>G (n.*1796C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868781G= | CA2326567532 | CERS1,GDF1 | c.*1204C= (n.*1204C=) c.935C= (p.Pro312=) c.*1796C= (n.*1796C=) | |
19 | g.18868781G>T | CA404862057 | CERS1,GDF1 | c.*1204C>A (n.*1204C>A) c.935C>A (p.Pro312Gln) c.*1796C>A (n.*1796C>A) | gnomAD v4 |
19 | g.18868782G>A | CA404862059 | CERS1,GDF1 | c.*1203C>T (n.*1203C>T) c.934C>T (p.Pro312Ser) c.*1795C>T (n.*1795C>T) | gnomAD v4 |
19 | g.18868782G>C | CA404862060 | CERS1,GDF1 | c.*1203C>G (n.*1203C>G) c.934C>G (p.Pro312Ala) c.*1795C>G (n.*1795C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868782G= | CA2326567534 | CERS1,GDF1 | c.*1203C= (n.*1203C=) c.934C= (p.Pro312=) c.*1795C= (n.*1795C=) | |
19 | g.18868782G>T | CA404862061 | CERS1,GDF1 | c.*1203C>A (n.*1203C>A) c.934C>A (p.Pro312Thr) c.*1795C>A (n.*1795C>A) | gnomAD v4 |
19 | g.18868782_18868783delinsGC | CA2326567533 | CERS1,GDF1 | c.*1202_*1203delinsGC (n.*1202_*1203delinsGC) c.933_934delinsGC (p.Gly311=) c.*1794_*1795delinsGC (n.*1794_*1795delinsGC) | |
19 | g.18868783C>A | CA506118437 | CERS1,GDF1 | c.*1202G>T (n.*1202G>T) c.933G>T (p.Gly311=) c.*1794G>T (n.*1794G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868783C= | CA2326567535 | CERS1,GDF1 | c.*1202G= (n.*1202G=) c.933G= (p.Gly311=) c.*1794G= (n.*1794G=) | |
19 | g.18868783C>G | CA506118439 | CERS1,GDF1 | c.*1202G>C (n.*1202G>C) c.933G>C (p.Gly311=) c.*1794G>C (n.*1794G>C) | |
19 | g.18868783C>T | CA506118440 | CERS1,GDF1 | c.*1202G>A (n.*1202G>A) c.933G>A (p.Gly311=) c.*1794G>A (n.*1794G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868788dup | CA632627117 | CERS1,GDF1 | c.*1202dup (n.*1202dup) c.933dup (p.Pro312AlafsTer?) c.*1794dup (n.*1794dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868787_18868788dup | CA2813841586 | CERS1,GDF1 | c.*1201_*1202dup (n.*1201_*1202dup) c.932_933dup (p.Pro312GlyfsTer?) c.*1793_*1794dup (n.*1793_*1794dup) | |
19 | g.18868788del | CA632627116 | CERS1,GDF1 | c.*1202del (n.*1202del) c.933del (p.Pro312ArgfsTer?) c.*1794del (n.*1794del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868787_18868788del | CA2583634708 | CERS1,GDF1 | c.*1201_*1202del (n.*1201_*1202del) c.932_933del (p.Gly311AlafsTer?) c.*1793_*1794del (n.*1793_*1794del) | gnomAD v4 |
19 | g.18868784C>A | CA404862062 | CERS1,GDF1 | c.*1201G>T (n.*1201G>T) c.932G>T (p.Gly311Val) c.*1793G>T (n.*1793G>T) | dbSNP gnomAD v4 |
19 | g.18868784C= | CA2326567536 | CERS1,GDF1 | c.*1201G= (n.*1201G=) c.932G= (p.Gly311=) c.*1793G= (n.*1793G=) | |
19 | g.18868784C>G | CA404862063 | CERS1,GDF1 | c.*1201G>C (n.*1201G>C) c.932G>C (p.Gly311Ala) c.*1793G>C (n.*1793G>C) | |
19 | g.18868784C>T | CA404862064 | CERS1,GDF1 | c.*1201G>A (n.*1201G>A) c.932G>A (p.Gly311Glu) c.*1793G>A (n.*1793G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868785C>A | CA404862065 | CERS1,GDF1 | c.*1200G>T (n.*1200G>T) c.931G>T (p.Gly311Trp) c.*1792G>T (n.*1792G>T) | dbSNP gnomAD v4 |
19 | g.18868785C= | CA2326567537 | CERS1,GDF1 | c.*1200G= (n.*1200G=) c.931G= (p.Gly311=) c.*1792G= (n.*1792G=) | |
19 | g.18868785C>G | CA404862066 | CERS1,GDF1 | c.*1200G>C (n.*1200G>C) c.931G>C (p.Gly311Arg) c.*1792G>C (n.*1792G>C) | |
19 | g.18868785C>T | CA404862067 | CERS1,GDF1 | c.*1200G>A (n.*1200G>A) c.931G>A (p.Gly311Arg) c.*1792G>A (n.*1792G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868786C>A | CA506118098 | CERS1,GDF1 | c.*1199G>T (n.*1199G>T) c.930G>T (p.Gly310=) c.*1791G>T (n.*1791G>T) | gnomAD v4 |
19 | g.18868786C>G | CA506118096 | CERS1,GDF1 | c.*1199G>C (n.*1199G>C) c.930G>C (p.Gly310=) c.*1791G>C (n.*1791G>C) | |
19 | g.18868786C>T | CA506118097 | CERS1,GDF1 | c.*1199G>A (n.*1199G>A) c.930G>A (p.Gly310=) c.*1791G>A (n.*1791G>A) | gnomAD v4 |
19 | g.18868787C>A | CA404862068 | CERS1,GDF1 | c.*1198G>T (n.*1198G>T) c.929G>T (p.Gly310Val) c.*1790G>T (n.*1790G>T) | gnomAD v4 |
19 | g.18868787C>G | CA404862069 | CERS1,GDF1 | c.*1198G>C (n.*1198G>C) c.929G>C (p.Gly310Ala) c.*1790G>C (n.*1790G>C) | gnomAD v4 |
19 | g.18868787C>T | CA404862070 | CERS1,GDF1 | c.*1198G>A (n.*1198G>A) c.929G>A (p.Gly310Glu) c.*1790G>A (n.*1790G>A) | gnomAD v4 |
19 | g.18868788C>A | CA404862072 | CERS1,GDF1 | c.*1197G>T (n.*1197G>T) c.928G>T (p.Gly310Trp) c.*1789G>T (n.*1789G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868788C= | CA2326567538 | CERS1,GDF1 | c.*1197G= (n.*1197G=) c.928G= (p.Gly310=) c.*1789G= (n.*1789G=) | |
19 | g.18868788C>G | CA404862071 | CERS1,GDF1 | c.*1197G>C (n.*1197G>C) c.928G>C (p.Gly310Arg) c.*1789G>C (n.*1789G>C) | dbSNP gnomAD v4 |
19 | g.18868788C>T | CA306231587 | CERS1,GDF1 | c.*1197G>A (n.*1197G>A) c.928G>A (p.Gly310Arg) c.*1789G>A (n.*1789G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868788_18868789insA | CA2583634709 | CERS1,GDF1 | c.*1196_*1197insT (n.*1196_*1197insT) c.927_928insT (p.Gly310TrpfsTer?) c.*1788_*1789insT (n.*1788_*1789insT) | gnomAD v4 |
19 | g.18868789G>A | CA506118103 | CERS1,GDF1 | c.*1196C>T (n.*1196C>T) c.927C>T (p.Ser309=) c.*1788C>T (n.*1788C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868789G>C | CA506118104 | CERS1,GDF1 | c.*1196C>G (n.*1196C>G) c.927C>G (p.Ser309=) c.*1788C>G (n.*1788C>G) | |
19 | g.18868789G= | CA2326567539 | CERS1,GDF1 | c.*1196C= (n.*1196C=) c.927C= (p.Ser309=) c.*1788C= (n.*1788C=) | |
19 | g.18868789G>T | CA506118105 | CERS1,GDF1 | c.*1196C>A (n.*1196C>A) c.927C>A (p.Ser309=) c.*1788C>A (n.*1788C>A) | gnomAD v4 |
19 | g.18868790G>A | CA404862073 | CERS1,GDF1 | c.*1195C>T (n.*1195C>T) c.926C>T (p.Ser309Phe) c.*1787C>T (n.*1787C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868790G>C | CA404862074 | CERS1,GDF1 | c.*1195C>G (n.*1195C>G) c.926C>G (p.Ser309Cys) c.*1787C>G (n.*1787C>G) | |
19 | g.18868790G= | CA2326567540 | CERS1,GDF1 | c.*1195C= (n.*1195C=) c.926C= (p.Ser309=) c.*1787C= (n.*1787C=) | |
19 | g.18868790G>T | CA404862075 | CERS1,GDF1 | c.*1195C>A (n.*1195C>A) c.926C>A (p.Ser309Tyr) c.*1787C>A (n.*1787C>A) | gnomAD v4 |
19 | g.18868790_18868791insTTC | CA2813841587 | CERS1,GDF1 | c.*1194_*1195insGAA (n.*1194_*1195insGAA) c.925_926insGAA (p.Ser309Ter) c.*1786_*1787insGAA (n.*1786_*1787insGAA) | |
19 | g.18868791A= | CA2326567541 | CERS1,GDF1 | c.*1194T= (n.*1194T=) c.925T= (p.Ser309=) c.*1786T= (n.*1786T=) | |
19 | g.18868791A>C | CA404862076 | CERS1,GDF1 | c.*1194T>G (n.*1194T>G) c.925T>G (p.Ser309Ala) c.*1786T>G (n.*1786T>G) | |
19 | g.18868791A>G | CA349718 | CERS1,GDF1 | c.*1194T>C (n.*1194T>C) c.925T>C (p.Ser309Pro) c.*1786T>C (n.*1786T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868791A>T | CA404862077 | CERS1,GDF1 | c.*1194T>A (n.*1194T>A) c.925T>A (p.Ser309Thr) c.*1786T>A (n.*1786T>A) | |
19 | g.18868792C>A | CA506118109 | CERS1,GDF1 | c.*1193G>T (n.*1193G>T) c.924G>T (p.Gly308=) c.*1785G>T (n.*1785G>T) | gnomAD v4 |
19 | g.18868792C>G | CA506118110 | CERS1,GDF1 | c.*1193G>C (n.*1193G>C) c.924G>C (p.Gly308=) c.*1785G>C (n.*1785G>C) | |
19 | g.18868792C>T | CA506118111 | CERS1,GDF1 | c.*1193G>A (n.*1193G>A) c.924G>A (p.Gly308=) c.*1785G>A (n.*1785G>A) | dbSNP gnomAD v4 |
19 | g.18868795del | CA2583634710 | CERS1,GDF1 | c.*1193del (n.*1193del) c.924del (p.Ser309ProfsTer?) c.*1785del (n.*1785del) | gnomAD v4 |
19 | g.18868793C>A | CA404862080 | CERS1,GDF1 | c.*1192G>T (n.*1192G>T) c.923G>T (p.Gly308Val) c.*1784G>T (n.*1784G>T) | gnomAD v4 |
19 | g.18868793C>G | CA404862079 | CERS1,GDF1 | c.*1192G>C (n.*1192G>C) c.923G>C (p.Gly308Ala) c.*1784G>C (n.*1784G>C) | gnomAD v4 |
19 | g.18868793C>T | CA404862078 | CERS1,GDF1 | c.*1192G>A (n.*1192G>A) c.923G>A (p.Gly308Glu) c.*1784G>A (n.*1784G>A) | gnomAD v4 |
19 | g.18868794C>A | CA404862081 | CERS1,GDF1 | c.*1191G>T (n.*1191G>T) c.922G>T (p.Gly308Trp) c.*1783G>T (n.*1783G>T) | gnomAD v4 |
19 | g.18868794C= | CA2326567542 | CERS1,GDF1 | c.*1191G= (n.*1191G=) c.922G= (p.Gly308=) c.*1783G= (n.*1783G=) | |
19 | g.18868794C>G | CA404862082 | CERS1,GDF1 | c.*1191G>C (n.*1191G>C) c.922G>C (p.Gly308Arg) c.*1783G>C (n.*1783G>C) | |
19 | g.18868794C>T | CA404862083 | CERS1,GDF1 | c.*1191G>A (n.*1191G>A) c.922G>A (p.Gly308Arg) c.*1783G>A (n.*1783G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868795_18868806del | CA2583634711 | CERS1,GDF1 | c.*1180_*1191del (n.*1180_*1191del) c.911_922del (p.Val304_Ser307del) c.*1772_*1783del (n.*1772_*1783del) | gnomAD v4 |
19 | g.18868795C>A | CA506118112 | CERS1,GDF1 | c.*1190G>T (n.*1190G>T) c.921G>T (p.Ser307=) c.*1782G>T (n.*1782G>T) | gnomAD v4 |
19 | g.18868795C= | CA2326567543 | CERS1,GDF1 | c.*1190G= (n.*1190G=) c.921G= (p.Ser307=) c.*1782G= (n.*1782G=) | |
19 | g.18868795C>G | CA506118113 | CERS1,GDF1 | c.*1190G>C (n.*1190G>C) c.921G>C (p.Ser307=) c.*1782G>C (n.*1782G>C) | gnomAD v4 |
19 | g.18868795C>T | CA506118115 | CERS1,GDF1 | c.*1190G>A (n.*1190G>A) c.921G>A (p.Ser307=) c.*1782G>A (n.*1782G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.18868796G>A | CA9317915 | CERS1,GDF1 | c.*1189C>T (n.*1189C>T) c.920C>T (p.Ser307Leu) c.*1781C>T (n.*1781C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868796G>C | CA404862084 | CERS1,GDF1 | c.*1189C>G (n.*1189C>G) c.920C>G (p.Ser307Trp) c.*1781C>G (n.*1781C>G) | |
19 | g.18868796G= | CA2326567544 | CERS1,GDF1 | c.*1189C= (n.*1189C=) c.920C= (p.Ser307=) c.*1781C= (n.*1781C=) | |
19 | g.18868796G>T | CA404862085 | CERS1,GDF1 | c.*1189C>A (n.*1189C>A) c.920C>A (p.Ser307Ter) c.*1781C>A (n.*1781C>A) | gnomAD v4 |
19 | g.18868797A>C | CA404862086 | CERS1,GDF1 | c.*1188T>G (n.*1188T>G) c.919T>G (p.Ser307Ala) c.*1780T>G (n.*1780T>G) | |
19 | g.18868797A>G | CA404862088 | CERS1,GDF1 | c.*1188T>C (n.*1188T>C) c.919T>C (p.Ser307Pro) c.*1780T>C (n.*1780T>C) | gnomAD v4 |
19 | g.18868797A>T | CA404862087 | CERS1,GDF1 | c.*1188T>A (n.*1188T>A) c.919T>A (p.Ser307Thr) c.*1780T>A (n.*1780T>A) | |
19 | g.18868797_18868798insT | CA2583634712 | CERS1,GDF1 | c.*1187_*1188insA (n.*1187_*1188insA) c.918_919insA (p.Ser307IlefsTer?) c.*1779_*1780insA (n.*1779_*1780insA) | gnomAD v4 |
19 | g.18868798C>A | CA506118117 | CERS1,GDF1 | c.*1187G>T (n.*1187G>T) c.918G>T (p.Leu306=) c.*1779G>T (n.*1779G>T) | dbSNP gnomAD v4 |
19 | g.18868798C= | CA2326567545 | CERS1,GDF1 | c.*1187G= (n.*1187G=) c.918G= (p.Leu306=) c.*1779G= (n.*1779G=) | |
19 | g.18868798C>G | CA506118118 | CERS1,GDF1 | c.*1187G>C (n.*1187G>C) c.918G>C (p.Leu306=) c.*1779G>C (n.*1779G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868798C>T | CA506118119 | CERS1,GDF1 | c.*1187G>A (n.*1187G>A) c.918G>A (p.Leu306=) c.*1779G>A (n.*1779G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868799A>C | CA404862089 | CERS1,GDF1 | c.*1186T>G (n.*1186T>G) c.917T>G (p.Leu306Arg) c.*1778T>G (n.*1778T>G) | |
19 | g.18868799A>G | CA404862090 | CERS1,GDF1 | c.*1186T>C (n.*1186T>C) c.917T>C (p.Leu306Pro) c.*1778T>C (n.*1778T>C) | gnomAD v4 |
19 | g.18868799A>T | CA404862091 | CERS1,GDF1 | c.*1186T>A (n.*1186T>A) c.917T>A (p.Leu306Gln) c.*1778T>A (n.*1778T>A) | |
19 | g.18868800G>A | CA506118121 | CERS1,GDF1 | c.*1185C>T (n.*1185C>T) c.916C>T (p.Leu306=) c.*1777C>T (n.*1777C>T) | gnomAD v4 |
19 | g.18868800G>C | CA404862092 | CERS1,GDF1 | c.*1185C>G (n.*1185C>G) c.916C>G (p.Leu306Val) c.*1777C>G (n.*1777C>G) | |
19 | g.18868800G>T | CA404862093 | CERS1,GDF1 | c.*1185C>A (n.*1185C>A) c.916C>A (p.Leu306Met) c.*1777C>A (n.*1777C>A) | gnomAD v4 |
19 | g.18868803_18868804del | CA2583634713 | CERS1,GDF1 | c.*1184_*1185del (n.*1184_*1185del) c.915_916del (p.Leu306ValfsTer?) c.*1776_*1777del (n.*1776_*1777del) | gnomAD v4 |
19 | g.18868801C>A | CA506118122 | CERS1,GDF1 | c.*1184G>T (n.*1184G>T) c.915G>T (p.Ala305=) c.*1776G>T (n.*1776G>T) | gnomAD v4 |
19 | g.18868801C= | CA2326567546 | CERS1,GDF1 | c.*1184G= (n.*1184G=) c.915G= (p.Ala305=) c.*1776G= (n.*1776G=) | |
19 | g.18868801C>G | CA506118123 | CERS1,GDF1 | c.*1184G>C (n.*1184G>C) c.915G>C (p.Ala305=) c.*1776G>C (n.*1776G>C) | gnomAD v4 |
19 | g.18868801C>T | CA506118124 | CERS1,GDF1 | c.*1184G>A (n.*1184G>A) c.915G>A (p.Ala305=) c.*1776G>A (n.*1776G>A) | dbSNP gnomAD v4 |
19 | g.18868802G>A | CA404862094 | CERS1,GDF1 | c.*1183C>T (n.*1183C>T) c.914C>T (p.Ala305Val) c.*1775C>T (n.*1775C>T) | gnomAD v4 COSMIC COSMIC |
19 | g.18868802G>C | CA404862095 | CERS1,GDF1 | c.*1183C>G (n.*1183C>G) c.914C>G (p.Ala305Gly) c.*1775C>G (n.*1775C>G) | |
19 | g.18868802G>T | CA404862096 | CERS1,GDF1 | c.*1183C>A (n.*1183C>A) c.914C>A (p.Ala305Glu) c.*1775C>A (n.*1775C>A) | gnomAD v4 |
19 | g.18868803C>A | CA404862097 | CERS1,GDF1 | c.*1182G>T (n.*1182G>T) c.913G>T (p.Ala305Ser) c.*1774G>T (n.*1774G>T) | gnomAD v4 |
19 | g.18868803C= | CA2326567547 | CERS1,GDF1 | c.*1182G= (n.*1182G=) c.913G= (p.Ala305=) c.*1774G= (n.*1774G=) | |
19 | g.18868803C>G | CA404862098 | CERS1,GDF1 | c.*1182G>C (n.*1182G>C) c.913G>C (p.Ala305Pro) c.*1774G>C (n.*1774G>C) | |
19 | g.18868803C>T | CA404862099 | CERS1,GDF1 | c.*1182G>A (n.*1182G>A) c.913G>A (p.Ala305Thr) c.*1774G>A (n.*1774G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868804G>A | CA506118128 | CERS1,GDF1 | c.*1181C>T (n.*1181C>T) c.912C>T (p.Val304=) c.*1773C>T (n.*1773C>T) | gnomAD v4 COSMIC COSMIC |
19 | g.18868804G>C | CA9317916 | CERS1,GDF1 | c.*1181C>G (n.*1181C>G) c.912C>G (p.Val304=) c.*1773C>G (n.*1773C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868804G= | CA2326567548 | CERS1,GDF1 | c.*1181C= (n.*1181C=) c.912C= (p.Val304=) c.*1773C= (n.*1773C=) | |
19 | g.18868804G>T | CA506118129 | CERS1,GDF1 | c.*1181C>A (n.*1181C>A) c.912C>A (p.Val304=) c.*1773C>A (n.*1773C>A) | gnomAD v4 |
19 | g.18868804_18868805del | CA2813841588 | CERS1,GDF1 | c.*1180_*1181del (n.*1180_*1181del) c.911_912del (p.Val304GlyfsTer?) c.*1772_*1773del (n.*1772_*1773del) | |
19 | g.18868805A= | CA2326567549 | CERS1,GDF1 | c.*1180T= (n.*1180T=) c.911T= (p.Val304=) c.*1772T= (n.*1772T=) | |
19 | g.18868805A>C | CA404862100 | CERS1,GDF1 | c.*1180T>G (n.*1180T>G) c.911T>G (p.Val304Gly) c.*1772T>G (n.*1772T>G) | |
19 | g.18868805A>G | CA404862102 | CERS1,GDF1 | c.*1180T>C (n.*1180T>C) c.911T>C (p.Val304Ala) c.*1772T>C (n.*1772T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868805A>T | CA404862101 | CERS1,GDF1 | c.*1180T>A (n.*1180T>A) c.911T>A (p.Val304Asp) c.*1772T>A (n.*1772T>A) | |
19 | g.18868805_18868806delinsAC | CA2326567550 | CERS1,GDF1 | c.*1179_*1180delinsGT (n.*1179_*1180delinsGT) c.910_911delinsGT (p.Val304=) c.*1771_*1772delinsGT (n.*1771_*1772delinsGT) | |
19 | g.18868806del | CA632627028 | CERS1,GDF1 | c.*1179del (n.*1179del) c.910del (p.Val304SerfsTer?) c.*1771del (n.*1771del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868806C>A | CA404862103 | CERS1,GDF1 | c.*1179G>T (n.*1179G>T) c.910G>T (p.Val304Phe) c.*1771G>T (n.*1771G>T) | dbSNP gnomAD v4 |
19 | g.18868806C= | CA2326567551 | CERS1,GDF1 | c.*1179G= (n.*1179G=) c.910G= (p.Val304=) c.*1771G= (n.*1771G=) | |
19 | g.18868806C>G | CA404862104 | CERS1,GDF1 | c.*1179G>C (n.*1179G>C) c.910G>C (p.Val304Leu) c.*1771G>C (n.*1771G>C) | dbSNP gnomAD v4 |
19 | g.18868806C>T | CA404862105 | CERS1,GDF1 | c.*1179G>A (n.*1179G>A) c.910G>A (p.Val304Ile) c.*1771G>A (n.*1771G>A) | dbSNP gnomAD v4 |
19 | g.18868807G>A | CA506118135 | CERS1,GDF1 | c.*1178C>T (n.*1178C>T) c.909C>T (p.Pro303=) c.*1770C>T (n.*1770C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868807G>C | CA506118138 | CERS1,GDF1 | c.*1178C>G (n.*1178C>G) c.909C>G (p.Pro303=) c.*1770C>G (n.*1770C>G) | |
19 | g.18868807G= | CA2326567552 | CERS1,GDF1 | c.*1178C= (n.*1178C=) c.909C= (p.Pro303=) c.*1770C= (n.*1770C=) | |
19 | g.18868807G>T | CA506118136 | CERS1,GDF1 | c.*1178C>A (n.*1178C>A) c.909C>A (p.Pro303=) c.*1770C>A (n.*1770C>A) | dbSNP gnomAD v4 |
19 | g.18868809dup | CA213081 | CERS1,GDF1 | c.*1178dup (n.*1178dup) c.909dup (p.Val304ArgfsTer?) c.*1770dup (n.*1770dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868809del | CA2583634714 | CERS1,GDF1 | c.*1178del (n.*1178del) c.909del (p.Val304SerfsTer?) c.*1770del (n.*1770del) | gnomAD v4 |
19 | g.18868807_18868808insCA | CA2552721949 | CERS1,GDF1 | c.*1177_*1178insTG (n.*1177_*1178insTG) c.908_909insTG (p.Val304AlafsTer?) c.*1769_*1770insTG (n.*1769_*1770insTG) | |
19 | g.18868808G>A | CA404862106 | CERS1,GDF1 | c.*1177C>T (n.*1177C>T) c.908C>T (p.Pro303Leu) c.*1769C>T (n.*1769C>T) | gnomAD v4 |
19 | g.18868808G>C | CA404862107 | CERS1,GDF1 | c.*1177C>G (n.*1177C>G) c.908C>G (p.Pro303Arg) c.*1769C>G (n.*1769C>G) | |
19 | g.18868808G>T | CA404862108 | CERS1,GDF1 | c.*1177C>A (n.*1177C>A) c.908C>A (p.Pro303His) c.*1769C>A (n.*1769C>A) | gnomAD v4 |
19 | g.18868809G>A | CA404862109 | CERS1,GDF1 | c.*1176C>T (n.*1176C>T) c.907C>T (p.Pro303Ser) c.*1768C>T (n.*1768C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868809G>C | CA404862110 | CERS1,GDF1 | c.*1176C>G (n.*1176C>G) c.907C>G (p.Pro303Ala) c.*1768C>G (n.*1768C>G) | gnomAD v4 |
19 | g.18868809G= | CA2326567553 | CERS1,GDF1 | c.*1176C= (n.*1176C=) c.907C= (p.Pro303=) c.*1768C= (n.*1768C=) | |
19 | g.18868809G>T | CA404862111 | CERS1,GDF1 | c.*1176C>A (n.*1176C>A) c.907C>A (p.Pro303Thr) c.*1768C>A (n.*1768C>A) | gnomAD v4 |
19 | g.18868810C>A | CA506118144 | CERS1,GDF1 | c.*1175G>T (n.*1175G>T) c.906G>T (p.Leu302=) c.*1767G>T (n.*1767G>T) | gnomAD v4 |
19 | g.18868810C>G | CA506118145 | CERS1,GDF1 | c.*1175G>C (n.*1175G>C) c.906G>C (p.Leu302=) c.*1767G>C (n.*1767G>C) | |
19 | g.18868810C>T | CA506118146 | CERS1,GDF1 | c.*1175G>A (n.*1175G>A) c.906G>A (p.Leu302=) c.*1767G>A (n.*1767G>A) | gnomAD v4 |
19 | g.18868811A>C | CA404862112 | CERS1,GDF1 | c.*1174T>G (n.*1174T>G) c.905T>G (p.Leu302Arg) c.*1766T>G (n.*1766T>G) | |
19 | g.18868811A>G | CA404862113 | CERS1,GDF1 | c.*1174T>C (n.*1174T>C) c.905T>C (p.Leu302Pro) c.*1766T>C (n.*1766T>C) | gnomAD v4 |
19 | g.18868811A>T | CA404862114 | CERS1,GDF1 | c.*1174T>A (n.*1174T>A) c.905T>A (p.Leu302Gln) c.*1766T>A (n.*1766T>A) | gnomAD v4 |
19 | g.18868812G>A | CA506118148 | CERS1,GDF1 | c.*1173C>T (n.*1173C>T) c.904C>T (p.Leu302=) c.*1765C>T (n.*1765C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868812G>C | CA404862115 | CERS1,GDF1 | c.*1173C>G (n.*1173C>G) c.904C>G (p.Leu302Val) c.*1765C>G (n.*1765C>G) | |
19 | g.18868812G= | CA2326567554 | CERS1,GDF1 | c.*1173C= (n.*1173C=) c.904C= (p.Leu302=) c.*1765C= (n.*1765C=) | |
19 | g.18868812G>T | CA404862116 | CERS1,GDF1 | c.*1173C>A (n.*1173C>A) c.904C>A (p.Leu302Met) c.*1765C>A (n.*1765C>A) | gnomAD v4 |
19 | g.18868812dup | CA2576726647 | CERS1,GDF1 | c.*1173dup (n.*1173dup) c.904dup (p.Leu302ProfsTer?) c.*1765dup (n.*1765dup) | |
19 | g.18868813C>A | CA506118149 | CERS1,GDF1 | c.*1172G>T (n.*1172G>T) c.903G>T (p.Ala301=) c.*1764G>T (n.*1764G>T) | gnomAD v4 |
19 | g.18868813C>G | CA506118150 | CERS1,GDF1 | c.*1172G>C (n.*1172G>C) c.903G>C (p.Ala301=) c.*1764G>C (n.*1764G>C) | |
19 | g.18868813C>T | CA506118151 | CERS1,GDF1 | c.*1172G>A (n.*1172G>A) c.903G>A (p.Ala301=) c.*1764G>A (n.*1764G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.18868814G>A | CA404862117 | CERS1,GDF1 | c.*1171C>T (n.*1171C>T) c.902C>T (p.Ala301Val) c.*1763C>T (n.*1763C>T) | gnomAD v4 |
19 | g.18868814G>C | CA404862118 | CERS1,GDF1 | c.*1171C>G (n.*1171C>G) c.902C>G (p.Ala301Gly) c.*1763C>G (n.*1763C>G) | |
19 | g.18868814G>T | CA404862119 | CERS1,GDF1 | c.*1171C>A (n.*1171C>A) c.902C>A (p.Ala301Glu) c.*1763C>A (n.*1763C>A) | gnomAD v4 |
19 | g.18868815C>A | CA404862120 | CERS1,GDF1 | c.*1170G>T (n.*1170G>T) c.901G>T (p.Ala301Ser) c.*1762G>T (n.*1762G>T) | gnomAD v4 |
19 | g.18868815C= | CA2326567555 | CERS1,GDF1 | c.*1170G= (n.*1170G=) c.901G= (p.Ala301=) c.*1762G= (n.*1762G=) | |
19 | g.18868815C>G | CA404862121 | CERS1,GDF1 | c.*1170G>C (n.*1170G>C) c.901G>C (p.Ala301Pro) c.*1762G>C (n.*1762G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868815C>T | CA404862122 | CERS1,GDF1 | c.*1170G>A (n.*1170G>A) c.901G>A (p.Ala301Thr) c.*1762G>A (n.*1762G>A) | gnomAD v4 |
19 | g.18868816G>A | CA306231607 | CERS1,GDF1 | c.*1169C>T (n.*1169C>T) c.900C>T (p.Cys300=) c.*1761C>T (n.*1761C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.18868816G>C | CA404862123 | CERS1,GDF1 | c.*1169C>G (n.*1169C>G) c.900C>G (p.Cys300Trp) c.*1761C>G (n.*1761C>G) | gnomAD v4 |
19 | g.18868816G= | CA2326567556 | CERS1,GDF1 | c.*1169C= (n.*1169C=) c.900C= (p.Cys300=) c.*1761C= (n.*1761C=) | |
19 | g.18868816G>T | CA404862124 | CERS1,GDF1 | c.*1169C>A (n.*1169C>A) c.900C>A (p.Cys300Ter) c.*1761C>A (n.*1761C>A) | gnomAD v4 |
19 | g.18868817C>A | CA404862125 | CERS1,GDF1 | c.*1168G>T (n.*1168G>T) c.899G>T (p.Cys300Phe) c.*1760G>T (n.*1760G>T) | gnomAD v4 |
19 | g.18868817C>G | CA404862126 | CERS1,GDF1 | c.*1168G>C (n.*1168G>C) c.899G>C (p.Cys300Ser) c.*1760G>C (n.*1760G>C) | |
19 | g.18868817C>T | CA404862127 | CERS1,GDF1 | c.*1168G>A (n.*1168G>A) c.899G>A (p.Cys300Tyr) c.*1760G>A (n.*1760G>A) | gnomAD v4 |
19 | g.18868818A>C | CA404862130 | CERS1,GDF1 | c.*1167T>G (n.*1167T>G) c.898T>G (p.Cys300Gly) c.*1759T>G (n.*1759T>G) | |
19 | g.18868818A>G | CA404862129 | CERS1,GDF1 | c.*1167T>C (n.*1167T>C) c.898T>C (p.Cys300Arg) c.*1759T>C (n.*1759T>C) | gnomAD v4 |
19 | g.18868818A>T | CA404862128 | CERS1,GDF1 | c.*1167T>A (n.*1167T>A) c.898T>A (p.Cys300Ser) c.*1759T>A (n.*1759T>A) | gnomAD v4 |
19 | g.18868819C>A | CA404862131 | CERS1,GDF1 | c.*1166G>T (n.*1166G>T) c.897G>T (p.Gln299His) c.*1758G>T (n.*1758G>T) | gnomAD v4 |
19 | g.18868819C>G | CA404862132 | CERS1,GDF1 | c.*1166G>C (n.*1166G>C) c.897G>C (p.Gln299His) c.*1758G>C (n.*1758G>C) | |
19 | g.18868819C>T | CA506118154 | CERS1,GDF1 | c.*1166G>A (n.*1166G>A) c.897G>A (p.Gln299=) c.*1758G>A (n.*1758G>A) | gnomAD v4 |
19 | g.18868820T>A | CA404862133 | CERS1,GDF1 | c.*1165A>T (n.*1165A>T) c.896A>T (p.Gln299Leu) c.*1757A>T (n.*1757A>T) | |
19 | g.18868820T>C | CA404862134 | CERS1,GDF1 | c.*1165A>G (n.*1165A>G) c.896A>G (p.Gln299Arg) c.*1757A>G (n.*1757A>G) | gnomAD v4 |
19 | g.18868820T>G | CA404862135 | CERS1,GDF1 | c.*1165A>C (n.*1165A>C) c.896A>C (p.Gln299Pro) c.*1757A>C (n.*1757A>C) | |
19 | g.18868821G>A | CA404862136 | CERS1,GDF1 | c.*1164C>T (n.*1164C>T) c.895C>T (p.Gln299Ter) c.*1756C>T (n.*1756C>T) | gnomAD v4 |
19 | g.18868821G>C | CA404862137 | CERS1,GDF1 | c.*1164C>G (n.*1164C>G) c.895C>G (p.Gln299Glu) c.*1756C>G (n.*1756C>G) | gnomAD v4 |
19 | g.18868821G>T | CA404862138 | CERS1,GDF1 | c.*1164C>A (n.*1164C>A) c.895C>A (p.Gln299Lys) c.*1756C>A (n.*1756C>A) | gnomAD v4 |
19 | g.18868822A>C | CA506118159 | CERS1,GDF1 | c.*1163T>G (n.*1163T>G) c.894T>G (p.Gly298=) c.*1755T>G (n.*1755T>G) | |
19 | g.18868822A>G | CA506118160 | CERS1,GDF1 | c.*1163T>C (n.*1163T>C) c.894T>C (p.Gly298=) c.*1755T>C (n.*1755T>C) | gnomAD v4 |
19 | g.18868822A>T | CA506118161 | CERS1,GDF1 | c.*1163T>A (n.*1163T>A) c.894T>A (p.Gly298=) c.*1755T>A (n.*1755T>A) | |
19 | g.18868823C>A | CA404862141 | CERS1,GDF1 | c.*1162G>T (n.*1162G>T) c.893G>T (p.Gly298Val) c.*1754G>T (n.*1754G>T) | gnomAD v4 |
19 | g.18868823C= | CA2326567557 | CERS1,GDF1 | c.*1162G= (n.*1162G=) c.893G= (p.Gly298=) c.*1754G= (n.*1754G=) | |
19 | g.18868823C>G | CA404862139 | CERS1,GDF1 | c.*1162G>C (n.*1162G>C) c.893G>C (p.Gly298Ala) c.*1754G>C (n.*1754G>C) | gnomAD v4 |
19 | g.18868823C>T | CA404862140 | CERS1,GDF1 | c.*1162G>A (n.*1162G>A) c.893G>A (p.Gly298Asp) c.*1754G>A (n.*1754G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868824C>A | CA404862142 | CERS1,GDF1 | c.*1161G>T (n.*1161G>T) c.892G>T (p.Gly298Cys) c.*1753G>T (n.*1753G>T) | gnomAD v4 |
19 | g.18868824C= | CA2326567558 | CERS1,GDF1 | c.*1161G= (n.*1161G=) c.892G= (p.Gly298=) c.*1753G= (n.*1753G=) | |
19 | g.18868824C>G | CA404862143 | CERS1,GDF1 | c.*1161G>C (n.*1161G>C) c.892G>C (p.Gly298Arg) c.*1753G>C (n.*1753G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868824C>T | CA404862144 | CERS1,GDF1 | c.*1161G>A (n.*1161G>A) c.892G>A (p.Gly298Ser) c.*1753G>A (n.*1753G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868825C>A | CA404862145 | CERS1,GDF1 | c.*1160G>T (n.*1160G>T) c.891G>T (p.Gln297His) c.*1752G>T (n.*1752G>T) | gnomAD v4 |
19 | g.18868825C= | CA2326567559 | CERS1,GDF1 | c.*1160G= (n.*1160G=) c.891G= (p.Gln297=) c.*1752G= (n.*1752G=) | |
19 | g.18868825C>G | CA404862146 | CERS1,GDF1 | c.*1160G>C (n.*1160G>C) c.891G>C (p.Gln297His) c.*1752G>C (n.*1752G>C) | ClinVar dbSNP gnomAD v4 |
19 | g.18868825C>T | CA306231609 | CERS1,GDF1 | c.*1160G>A (n.*1160G>A) c.891G>A (p.Gln297=) c.*1752G>A (n.*1752G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868826T>A | CA404862147 | CERS1,GDF1 | c.*1159A>T (n.*1159A>T) c.890A>T (p.Gln297Leu) c.*1751A>T (n.*1751A>T) | |
19 | g.18868826T>C | CA404862149 | CERS1,GDF1 | c.*1159A>G (n.*1159A>G) c.890A>G (p.Gln297Arg) c.*1751A>G (n.*1751A>G) | dbSNP gnomAD v4 |
19 | g.18868826T>G | CA404862148 | CERS1,GDF1 | c.*1159A>C (n.*1159A>C) c.890A>C (p.Gln297Pro) c.*1751A>C (n.*1751A>C) | |
19 | g.18868826T= | CA2326567560 | CERS1,GDF1 | c.*1159A= (n.*1159A=) c.890A= (p.Gln297=) c.*1751A= (n.*1751A=) | |
19 | g.18868827G>A | CA404862150 | CERS1,GDF1 | c.*1158C>T (n.*1158C>T) c.889C>T (p.Gln297Ter) c.*1750C>T (n.*1750C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868827G>C | CA404862151 | CERS1,GDF1 | c.*1158C>G (n.*1158C>G) c.889C>G (p.Gln297Glu) c.*1750C>G (n.*1750C>G) | gnomAD v4 |
19 | g.18868827G= | CA2326567561 | CERS1,GDF1 | c.*1158C= (n.*1158C=) c.889C= (p.Gln297=) c.*1750C= (n.*1750C=) | |
19 | g.18868827G>T | CA404862152 | CERS1,GDF1 | c.*1158C>A (n.*1158C>A) c.889C>A (p.Gln297Lys) c.*1750C>A (n.*1750C>A) | gnomAD v4 |
19 | g.18868828del | CA2583634715 | CERS1,GDF1 | c.*1158del (n.*1158del) c.889del (p.Gln297ArgfsTer?) c.*1750del (n.*1750del) | gnomAD v4 |