Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18868895_18868950del | CA2697556433 | CERS1,GDF1 | c.*1037_*1092del (n.*1037_*1092del) c.768_823del (p.Pro257LeufsTer?) c.*1629_*1684del (n.*1629_*1684del) | ClinVar |
19 | g.18868901_18868929delinsAGCCGCCGCGCGCGACAAGCGCCCCCGGG | CA2326567598 | CERS1,GDF1 | c.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1056_*1084delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT) c.787_815delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (p.Pro263=) c.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT (n.*1648_*1676delinsCCCGGGGGCGCTTGTCGCGCGCGGCGGCT) | |
19 | g.18868910_18868937del | CA632627030 | CERS1,GDF1 | c.*1056_*1083del (n.*1056_*1083del) c.787_814del (p.Pro263CysfsTer3) c.*1648_*1675del (n.*1648_*1675del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868914_18868924del | CA2695228498 | CERS1,GDF1 | c.*1062_*1072del (n.*1062_*1072del) c.793_803del (p.Gly265ArgfsTer?) c.*1654_*1664del (n.*1654_*1664del) | |
19 | g.18868914_18868940delinsGACAAGCGCCCCCGGGGCCGCCGCCCA | CA2326567612 | CERS1,GDF1 | c.*1045_*1071delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (n.*1045_*1071delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC) c.776_802delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (p.Leu259=) c.*1637_*1663delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC (n.*1637_*1663delinsTGGGCGGCGGCCCCGGGGGCGCTTGTC) | |
19 | g.18868914_18868941dup | CA2813841589 | CERS1,GDF1 | c.*1044_*1071dup (n.*1044_*1071dup) c.775_802dup (p.Arg268LeufsTer?) c.*1636_*1663dup (n.*1636_*1663dup) | |
19 | g.18868918_18868943del | CA16620816 | CERS1,GDF1 | c.*1045_*1070del (n.*1045_*1070del) c.776_801del (p.Leu259SerfsTer?) c.*1637_*1662del (n.*1637_*1662del) | ClinVar dbSNP gnomAD v4 |
19 | g.18868922C>A | CA404862357 | CERS1,GDF1 | c.*1063G>T (n.*1063G>T) c.794G>T (p.Gly265Val) c.*1655G>T (n.*1655G>T) | gnomAD v4 |
19 | g.18868922C= | CA2326567617 | CERS1,GDF1 | c.*1063G= (n.*1063G=) c.794G= (p.Gly265=) c.*1655G= (n.*1655G=) | |
19 | g.18868922C>G | CA404862358 | CERS1,GDF1 | c.*1063G>C (n.*1063G>C) c.794G>C (p.Gly265Ala) c.*1655G>C (n.*1655G>C) | gnomAD v4 |
19 | g.18868922C>T | CA9317921 | CERS1,GDF1 | c.*1063G>A (n.*1063G>A) c.794G>A (p.Gly265Asp) c.*1655G>A (n.*1655G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868926dup | CA632627047 | CERS1,GDF1 | c.*1063dup (n.*1063dup) c.794dup (p.Ala266ArgfsTer?) c.*1655dup (n.*1655dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868926del | CA632627048 | CERS1,GDF1 | c.*1063del (n.*1063del) c.794del (p.Gly265AlafsTer10) c.*1655del (n.*1655del) | gnomAD v2 gnomAD v4 |
19 | g.18868923C>A | CA404862361 | CERS1,GDF1 | c.*1062G>T (n.*1062G>T) c.793G>T (p.Gly265Cys) c.*1654G>T (n.*1654G>T) | gnomAD v4 |
19 | g.18868923C>G | CA404862360 | CERS1,GDF1 | c.*1062G>C (n.*1062G>C) c.793G>C (p.Gly265Arg) c.*1654G>C (n.*1654G>C) | |
19 | g.18868923C>T | CA404862359 | CERS1,GDF1 | c.*1062G>A (n.*1062G>A) c.793G>A (p.Gly265Ser) c.*1654G>A (n.*1654G>A) | gnomAD v4 |
19 | g.18868924C>A | CA506118407 | CERS1,GDF1 | c.*1061G>T (n.*1061G>T) c.792G>T (p.Gly264=) c.*1653G>T (n.*1653G>T) | gnomAD v4 |
19 | g.18868924C= | CA2326567618 | CERS1,GDF1 | c.*1061G= (n.*1061G=) c.792G= (p.Gly264=) c.*1653G= (n.*1653G=) | |
19 | g.18868924C>G | CA506118408 | CERS1,GDF1 | c.*1061G>C (n.*1061G>C) c.792G>C (p.Gly264=) c.*1653G>C (n.*1653G>C) | gnomAD v4 |
19 | g.18868924C>T | CA506118409 | CERS1,GDF1 | c.*1061G>A (n.*1061G>A) c.792G>A (p.Gly264=) c.*1653G>A (n.*1653G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868925C>A | CA404862362 | CERS1,GDF1 | c.*1060G>T (n.*1060G>T) c.791G>T (p.Gly264Val) c.*1652G>T (n.*1652G>T) | gnomAD v4 |
19 | g.18868925C>G | CA404862363 | CERS1,GDF1 | c.*1060G>C (n.*1060G>C) c.791G>C (p.Gly264Ala) c.*1652G>C (n.*1652G>C) | |
19 | g.18868925C>T | CA404862364 | CERS1,GDF1 | c.*1060G>A (n.*1060G>A) c.791G>A (p.Gly264Glu) c.*1652G>A (n.*1652G>A) | gnomAD v4 |
19 | g.18868926C>A | CA404862365 | CERS1,GDF1 | c.*1059G>T (n.*1059G>T) c.790G>T (p.Gly264Trp) c.*1651G>T (n.*1651G>T) | dbSNP gnomAD v4 |
19 | g.18868926C= | CA2326567620 | CERS1,GDF1 | c.*1059G= (n.*1059G=) c.790G= (p.Gly264=) c.*1651G= (n.*1651G=) | |
19 | g.18868926C>G | CA404862366 | CERS1,GDF1 | c.*1059G>C (n.*1059G>C) c.790G>C (p.Gly264Arg) c.*1651G>C (n.*1651G>C) | gnomAD v4 |
19 | g.18868926C>T | CA306231647 | CERS1,GDF1 | c.*1059G>A (n.*1059G>A) c.790G>A (p.Gly264Arg) c.*1651G>A (n.*1651G>A) | dbSNP gnomAD v4 |
19 | g.18868926_18868927delinsCG | CA2326567619 | CERS1,GDF1 | c.*1058_*1059delinsCG (n.*1058_*1059delinsCG) c.789_790delinsCG (p.Pro263=) c.*1650_*1651delinsCG (n.*1650_*1651delinsCG) | |
19 | g.18868926_18868927insT | CA2583634734 | CERS1,GDF1 | c.*1058_*1059insA (n.*1058_*1059insA) c.789_790insA (p.Gly264ArgfsTer?) c.*1650_*1651insA (n.*1650_*1651insA) | gnomAD v4 |
19 | g.18868927G>A | CA9317922 | CERS1,GDF1 | c.*1058C>T (n.*1058C>T) c.789C>T (p.Pro263=) c.*1650C>T (n.*1650C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868927G>C | CA506118427 | CERS1,GDF1 | c.*1058C>G (n.*1058C>G) c.789C>G (p.Pro263=) c.*1650C>G (n.*1650C>G) | gnomAD v4 |
19 | g.18868927G= | CA2326567621 | CERS1,GDF1 | c.*1058C= (n.*1058C=) c.789C= (p.Pro263=) c.*1650C= (n.*1650C=) | |
19 | g.18868927G>T | CA506118431 | CERS1,GDF1 | c.*1058C>A (n.*1058C>A) c.789C>A (p.Pro263=) c.*1650C>A (n.*1650C>A) | gnomAD v4 |
19 | g.18868930dup | CA2583634735 | CERS1,GDF1 | c.*1058dup (n.*1058dup) c.789dup (p.Gly264ArgfsTer?) c.*1650dup (n.*1650dup) | gnomAD v4 |
19 | g.18868930del | CA632627049 | CERS1,GDF1 | c.*1058del (n.*1058del) c.789del (p.Gly265AlafsTer10) c.*1650del (n.*1650del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868928G>A | CA404862367 | CERS1,GDF1 | c.*1057C>T (n.*1057C>T) c.788C>T (p.Pro263Leu) c.*1649C>T (n.*1649C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.18868928G>C | CA404862368 | CERS1,GDF1 | c.*1057C>G (n.*1057C>G) c.788C>G (p.Pro263Arg) c.*1649C>G (n.*1649C>G) | dbSNP gnomAD v4 |
19 | g.18868928G= | CA2326567622 | CERS1,GDF1 | c.*1057C= (n.*1057C=) c.788C= (p.Pro263=) c.*1649C= (n.*1649C=) | |
19 | g.18868928G>T | CA404862369 | CERS1,GDF1 | c.*1057C>A (n.*1057C>A) c.788C>A (p.Pro263His) c.*1649C>A (n.*1649C>A) | gnomAD v4 |
19 | g.18868929G>A | CA404862370 | CERS1,GDF1 | c.*1056C>T (n.*1056C>T) c.787C>T (p.Pro263Ser) c.*1648C>T (n.*1648C>T) | gnomAD v4 |
19 | g.18868929G>C | CA404862371 | CERS1,GDF1 | c.*1056C>G (n.*1056C>G) c.787C>G (p.Pro263Ala) c.*1648C>G (n.*1648C>G) | |
19 | g.18868929G>T | CA404862372 | CERS1,GDF1 | c.*1056C>A (n.*1056C>A) c.787C>A (p.Pro263Thr) c.*1648C>A (n.*1648C>A) | gnomAD v4 |
19 | g.18868930G>A | CA506118436 | CERS1,GDF1 | c.*1055C>T (n.*1055C>T) c.786C>T (p.Gly262=) c.*1647C>T (n.*1647C>T) | dbSNP gnomAD v4 |
19 | g.18868930G>C | CA506118438 | CERS1,GDF1 | c.*1055C>G (n.*1055C>G) c.786C>G (p.Gly262=) c.*1647C>G (n.*1647C>G) | gnomAD v4 |
19 | g.18868930G= | CA2326567623 | CERS1,GDF1 | c.*1055C= (n.*1055C=) c.786C= (p.Gly262=) c.*1647C= (n.*1647C=) | |
19 | g.18868930G>T | CA506118441 | CERS1,GDF1 | c.*1055C>A (n.*1055C>A) c.786C>A (p.Gly262=) c.*1647C>A (n.*1647C>A) | gnomAD v4 |
19 | g.18868931C>A | CA404862374 | CERS1,GDF1 | c.*1054G>T (n.*1054G>T) c.785G>T (p.Gly262Val) c.*1646G>T (n.*1646G>T) | gnomAD v4 |
19 | g.18868931C>G | CA404862375 | CERS1,GDF1 | c.*1054G>C (n.*1054G>C) c.785G>C (p.Gly262Ala) c.*1646G>C (n.*1646G>C) | gnomAD v4 |
19 | g.18868931C>T | CA404862373 | CERS1,GDF1 | c.*1054G>A (n.*1054G>A) c.785G>A (p.Gly262Asp) c.*1646G>A (n.*1646G>A) | gnomAD v4 |
19 | g.18868932C>A | CA404862378 | CERS1,GDF1 | c.*1053G>T (n.*1053G>T) c.784G>T (p.Gly262Cys) c.*1645G>T (n.*1645G>T) | gnomAD v4 |
19 | g.18868932C= | CA2326567624 | CERS1,GDF1 | c.*1053G= (n.*1053G=) c.784G= (p.Gly262=) c.*1645G= (n.*1645G=) | |
19 | g.18868932C>G | CA404862376 | CERS1,GDF1 | c.*1053G>C (n.*1053G>C) c.784G>C (p.Gly262Arg) c.*1645G>C (n.*1645G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868932C>T | CA404862377 | CERS1,GDF1 | c.*1053G>A (n.*1053G>A) c.784G>A (p.Gly262Ser) c.*1645G>A (n.*1645G>A) | gnomAD v4 |
19 | g.18868933G>A | CA506118443 | CERS1,GDF1 | c.*1052C>T (n.*1052C>T) c.783C>T (p.Gly261=) c.*1644C>T (n.*1644C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868933G>C | CA506118448 | CERS1,GDF1 | c.*1052C>G (n.*1052C>G) c.783C>G (p.Gly261=) c.*1644C>G (n.*1644C>G) | gnomAD v4 |
19 | g.18868933G= | CA2326567625 | CERS1,GDF1 | c.*1052C= (n.*1052C=) c.783C= (p.Gly261=) c.*1644C= (n.*1644C=) | |
19 | g.18868933G>T | CA506118445 | CERS1,GDF1 | c.*1052C>A (n.*1052C>A) c.783C>A (p.Gly261=) c.*1644C>A (n.*1644C>A) | gnomAD v4 |
19 | g.18868934C>A | CA404862379 | CERS1,GDF1 | c.*1051G>T (n.*1051G>T) c.782G>T (p.Gly261Val) c.*1643G>T (n.*1643G>T) | gnomAD v4 |
19 | g.18868934C>G | CA404862380 | CERS1,GDF1 | c.*1051G>C (n.*1051G>C) c.782G>C (p.Gly261Ala) c.*1643G>C (n.*1643G>C) | gnomAD v4 |
19 | g.18868934C>T | CA404862381 | CERS1,GDF1 | c.*1051G>A (n.*1051G>A) c.782G>A (p.Gly261Asp) c.*1643G>A (n.*1643G>A) | gnomAD v4 |
19 | g.18868935C>A | CA404862382 | CERS1,GDF1 | c.*1050G>T (n.*1050G>T) c.781G>T (p.Gly261Cys) c.*1642G>T (n.*1642G>T) | gnomAD v4 |
19 | g.18868935C>G | CA404862383 | CERS1,GDF1 | c.*1050G>C (n.*1050G>C) c.781G>C (p.Gly261Arg) c.*1642G>C (n.*1642G>C) | |
19 | g.18868935C>T | CA404862384 | CERS1,GDF1 | c.*1050G>A (n.*1050G>A) c.781G>A (p.Gly261Ser) c.*1642G>A (n.*1642G>A) | gnomAD v4 |
19 | g.18868936G>A | CA10603930 | CERS1,GDF1 | c.*1049C>T (n.*1049C>T) c.780C>T (p.Gly260=) c.*1641C>T (n.*1641C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868936G>C | CA506118452 | CERS1,GDF1 | c.*1049C>G (n.*1049C>G) c.780C>G (p.Gly260=) c.*1641C>G (n.*1641C>G) | gnomAD v4 |
19 | g.18868936G= | CA2326567626 | CERS1,GDF1 | c.*1049C= (n.*1049C=) c.780C= (p.Gly260=) c.*1641C= (n.*1641C=) | |
19 | g.18868936G>T | CA506118453 | CERS1,GDF1 | c.*1049C>A (n.*1049C>A) c.780C>A (p.Gly260=) c.*1641C>A (n.*1641C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868936_18868937delinsGC | CA2326567627 | CERS1,GDF1 | c.*1048_*1049delinsGC (n.*1048_*1049delinsGC) c.779_780delinsGC (p.Gly260=) c.*1640_*1641delinsGC (n.*1640_*1641delinsGC) | |
19 | g.18868937C>A | CA9317923 | CERS1,GDF1 | c.*1048G>T (n.*1048G>T) c.779G>T (p.Gly260Val) c.*1640G>T (n.*1640G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18868937C= | CA2326567628 | CERS1,GDF1 | c.*1048G= (n.*1048G=) c.779G= (p.Gly260=) c.*1640G= (n.*1640G=) | |
19 | g.18868937C>G | CA404862385 | CERS1,GDF1 | c.*1048G>C (n.*1048G>C) c.779G>C (p.Gly260Ala) c.*1640G>C (n.*1640G>C) | gnomAD v4 |
19 | g.18868937C>T | CA404862386 | CERS1,GDF1 | c.*1048G>A (n.*1048G>A) c.779G>A (p.Gly260Asp) c.*1640G>A (n.*1640G>A) | gnomAD v4 |
19 | g.18868939del | CA994235610 | CERS1,GDF1 | c.*1048del (n.*1048del) c.779del (p.Gly260AlafsTer15) c.*1640del (n.*1640del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868938C>A | CA404862389 | CERS1,GDF1 | c.*1047G>T (n.*1047G>T) c.778G>T (p.Gly260Cys) c.*1639G>T (n.*1639G>T) | gnomAD v4 |
19 | g.18868938C= | CA2326567629 | CERS1,GDF1 | c.*1047G= (n.*1047G=) c.778G= (p.Gly260=) c.*1639G= (n.*1639G=) | |
19 | g.18868938C>G | CA404862388 | CERS1,GDF1 | c.*1047G>C (n.*1047G>C) c.778G>C (p.Gly260Arg) c.*1639G>C (n.*1639G>C) | dbSNP gnomAD v4 |
19 | g.18868938C>T | CA404862387 | CERS1,GDF1 | c.*1047G>A (n.*1047G>A) c.778G>A (p.Gly260Ser) c.*1639G>A (n.*1639G>A) | gnomAD v4 |
19 | g.18868939C>A | CA404862390 | CERS1,GDF1 | c.*1046G>T (n.*1046G>T) c.777G>T (p.Leu259Phe) c.*1638G>T (n.*1638G>T) | gnomAD v4 |
19 | g.18868939C= | CA2326567630 | CERS1,GDF1 | c.*1046G= (n.*1046G=) c.777G= (p.Leu259=) c.*1638G= (n.*1638G=) | |
19 | g.18868939C>G | CA404862391 | CERS1,GDF1 | c.*1046G>C (n.*1046G>C) c.777G>C (p.Leu259Phe) c.*1638G>C (n.*1638G>C) | dbSNP gnomAD v4 |
19 | g.18868939C>T | CA506118457 | CERS1,GDF1 | c.*1046G>A (n.*1046G>A) c.777G>A (p.Leu259=) c.*1638G>A (n.*1638G>A) | gnomAD v4 |
19 | g.18868940A>C | CA404862392 | CERS1,GDF1 | c.*1045T>G (n.*1045T>G) c.776T>G (p.Leu259Trp) c.*1637T>G (n.*1637T>G) | gnomAD v4 |
19 | g.18868940A>G | CA404862393 | CERS1,GDF1 | c.*1045T>C (n.*1045T>C) c.776T>C (p.Leu259Ser) c.*1637T>C (n.*1637T>C) | gnomAD v4 |
19 | g.18868940A>T | CA404862394 | CERS1,GDF1 | c.*1045T>A (n.*1045T>A) c.776T>A (p.Leu259Ter) c.*1637T>A (n.*1637T>A) | gnomAD v4 |
19 | g.18868941A>C | CA404862395 | CERS1,GDF1 | c.*1044T>G (n.*1044T>G) c.775T>G (p.Leu259Val) c.*1636T>G (n.*1636T>G) | gnomAD v4 |
19 | g.18868941A>G | CA506118461 | CERS1,GDF1 | c.*1044T>C (n.*1044T>C) c.775T>C (p.Leu259=) c.*1636T>C (n.*1636T>C) | gnomAD v4 |
19 | g.18868941A>T | CA404862396 | CERS1,GDF1 | c.*1044T>A (n.*1044T>A) c.775T>A (p.Leu259Met) c.*1636T>A (n.*1636T>A) | gnomAD v4 |
19 | g.18868942C>A | CA506118462 | CERS1,GDF1 | c.*1043G>T (n.*1043G>T) c.774G>T (p.Val258=) c.*1635G>T (n.*1635G>T) | gnomAD v4 |
19 | g.18868942C>G | CA506118463 | CERS1,GDF1 | c.*1043G>C (n.*1043G>C) c.774G>C (p.Val258=) c.*1635G>C (n.*1635G>C) | gnomAD v4 |
19 | g.18868942C>T | CA506118465 | CERS1,GDF1 | c.*1043G>A (n.*1043G>A) c.774G>A (p.Val258=) c.*1635G>A (n.*1635G>A) | gnomAD v4 |
19 | g.18868943A>C | CA404862397 | CERS1,GDF1 | c.*1042T>G (n.*1042T>G) c.773T>G (p.Val258Gly) c.*1634T>G (n.*1634T>G) | |
19 | g.18868943A>G | CA404862398 | CERS1,GDF1 | c.*1042T>C (n.*1042T>C) c.773T>C (p.Val258Ala) c.*1634T>C (n.*1634T>C) | gnomAD v4 |
19 | g.18868943A>T | CA404862399 | CERS1,GDF1 | c.*1042T>A (n.*1042T>A) c.773T>A (p.Val258Glu) c.*1634T>A (n.*1634T>A) | gnomAD v4 |
19 | g.18868944C>A | CA404862400 | CERS1,GDF1 | c.*1041G>T (n.*1041G>T) c.772G>T (p.Val258Leu) c.*1633G>T (n.*1633G>T) | gnomAD v4 |
19 | g.18868944C= | CA2326567631 | CERS1,GDF1 | c.*1041G= (n.*1041G=) c.772G= (p.Val258=) c.*1633G= (n.*1633G=) | |
19 | g.18868944C>G | CA404862401 | CERS1,GDF1 | c.*1041G>C (n.*1041G>C) c.772G>C (p.Val258Leu) c.*1633G>C (n.*1633G>C) | |
19 | g.18868944C>T | CA404862402 | CERS1,GDF1 | c.*1041G>A (n.*1041G>A) c.772G>A (p.Val258Met) c.*1633G>A (n.*1633G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.18868945G>A | CA506118469 | CERS1,GDF1 | c.*1040C>T (n.*1040C>T) c.771C>T (p.Pro257=) c.*1632C>T (n.*1632C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868945G>C | CA506118471 | CERS1,GDF1 | c.*1040C>G (n.*1040C>G) c.771C>G (p.Pro257=) c.*1632C>G (n.*1632C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868945G= | CA2326567632 | CERS1,GDF1 | c.*1040C= (n.*1040C=) c.771C= (p.Pro257=) c.*1632C= (n.*1632C=) | |
19 | g.18868945G>T | CA506118470 | CERS1,GDF1 | c.*1040C>A (n.*1040C>A) c.771C>A (p.Pro257=) c.*1632C>A (n.*1632C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868947del | CA2583634736 | CERS1,GDF1 | c.*1040del (n.*1040del) c.771del (p.Val258CysfsTer17) c.*1632del (n.*1632del) | gnomAD v4 |
19 | g.18868946G>A | CA404862405 | CERS1,GDF1 | c.*1039C>T (n.*1039C>T) c.770C>T (p.Pro257Leu) c.*1631C>T (n.*1631C>T) | dbSNP gnomAD v4 |
19 | g.18868946G>C | CA404862404 | CERS1,GDF1 | c.*1039C>G (n.*1039C>G) c.770C>G (p.Pro257Arg) c.*1631C>G (n.*1631C>G) | |
19 | g.18868946G= | CA2326567633 | CERS1,GDF1 | c.*1039C= (n.*1039C=) c.770C= (p.Pro257=) c.*1631C= (n.*1631C=) | |
19 | g.18868946G>T | CA404862403 | CERS1,GDF1 | c.*1039C>A (n.*1039C>A) c.770C>A (p.Pro257His) c.*1631C>A (n.*1631C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868947G>A | CA404862408 | CERS1,GDF1 | c.*1038C>T (n.*1038C>T) c.769C>T (p.Pro257Ser) c.*1630C>T (n.*1630C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868947G>C | CA404862406 | CERS1,GDF1 | c.*1038C>G (n.*1038C>G) c.769C>G (p.Pro257Ala) c.*1630C>G (n.*1630C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868947G= | CA2326567634 | CERS1,GDF1 | c.*1038C= (n.*1038C=) c.769C= (p.Pro257=) c.*1630C= (n.*1630C=) | |
19 | g.18868947G>T | CA404862407 | CERS1,GDF1 | c.*1038C>A (n.*1038C>A) c.769C>A (p.Pro257Thr) c.*1630C>A (n.*1630C>A) | gnomAD v4 |
19 | g.18868948T>A | CA404862409 | CERS1,GDF1 | c.*1037A>T (n.*1037A>T) c.768A>T (p.Glu256Asp) c.*1629A>T (n.*1629A>T) | gnomAD v4 |
19 | g.18868948T>C | CA506118475 | CERS1,GDF1 | c.*1037A>G (n.*1037A>G) c.768A>G (p.Glu256=) c.*1629A>G (n.*1629A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868948T>G | CA404862410 | CERS1,GDF1 | c.*1037A>C (n.*1037A>C) c.768A>C (p.Glu256Asp) c.*1629A>C (n.*1629A>C) | |
19 | g.18868948T= | CA2326567635 | CERS1,GDF1 | c.*1037A= (n.*1037A=) c.768A= (p.Glu256=) c.*1629A= (n.*1629A=) | |
19 | g.18868949T>A | CA404862411 | CERS1,GDF1 | c.*1036A>T (n.*1036A>T) c.767A>T (p.Glu256Val) c.*1628A>T (n.*1628A>T) | gnomAD v4 |
19 | g.18868949T>C | CA306231673 | CERS1,GDF1 | c.*1036A>G (n.*1036A>G) c.767A>G (p.Glu256Gly) c.*1628A>G (n.*1628A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868949T>G | CA404862412 | CERS1,GDF1 | c.*1036A>C (n.*1036A>C) c.767A>C (p.Glu256Ala) c.*1628A>C (n.*1628A>C) | |
19 | g.18868949T= | CA2326567636 | CERS1,GDF1 | c.*1036A= (n.*1036A=) c.767A= (p.Glu256=) c.*1628A= (n.*1628A=) | |
19 | g.18868950del | CA2583634737 | CERS1,GDF1 | c.*1035del (n.*1035del) c.766del (p.Glu256AsnfsTer19) c.*1627del (n.*1627del) | gnomAD v4 |
19 | g.18868950C>A | CA404862413 | CERS1,GDF1 | c.*1035G>T (n.*1035G>T) c.766G>T (p.Glu256Ter) c.*1627G>T (n.*1627G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868950C= | CA2326567637 | CERS1,GDF1 | c.*1035G= (n.*1035G=) c.766G= (p.Glu256=) c.*1627G= (n.*1627G=) | |
19 | g.18868950C>G | CA404862414 | CERS1,GDF1 | c.*1035G>C (n.*1035G>C) c.766G>C (p.Glu256Gln) c.*1627G>C (n.*1627G>C) | gnomAD v4 |
19 | g.18868950C>T | CA306231677 | CERS1,GDF1 | c.*1035G>A (n.*1035G>A) c.766G>A (p.Glu256Lys) c.*1627G>A (n.*1627G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868951G>A | CA506118479 | CERS1,GDF1 | c.*1034C>T (n.*1034C>T) c.765C>T (p.Ala255=) c.*1626C>T (n.*1626C>T) | gnomAD v4 |
19 | g.18868951G>C | CA506118481 | CERS1,GDF1 | c.*1034C>G (n.*1034C>G) c.765C>G (p.Ala255=) c.*1626C>G (n.*1626C>G) | |
19 | g.18868951G= | CA2326567638 | CERS1,GDF1 | c.*1034C= (n.*1034C=) c.765C= (p.Ala255=) c.*1626C= (n.*1626C=) | |
19 | g.18868951G>T | CA506118480 | CERS1,GDF1 | c.*1034C>A (n.*1034C>A) c.765C>A (p.Ala255=) c.*1626C>A (n.*1626C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18868951_18868956delinsGGCGTC | CA2326567639 | CERS1,GDF1 | c.*1029_*1034delinsGACGCC (n.*1029_*1034delinsGACGCC) c.760_765delinsGACGCC (p.Asp254=) c.*1621_*1626delinsGACGCC (n.*1621_*1626delinsGACGCC) | |
19 | g.18868956_18869059del | CA2583634738 | CERS1,GDF1 | c.*931_*1034del (n.*931_*1034del) c.662_765del (p.Pro221ArgfsTer?) c.*1523_*1626del (n.*1523_*1626del) | gnomAD v4 |
19 | g.18868952G>A | CA404862415 | CERS1,GDF1 | c.*1033C>T (n.*1033C>T) c.764C>T (p.Ala255Val) c.*1625C>T (n.*1625C>T) | gnomAD v4 |
19 | g.18868952G>C | CA404862416 | CERS1,GDF1 | c.*1033C>G (n.*1033C>G) c.764C>G (p.Ala255Gly) c.*1625C>G (n.*1625C>G) | dbSNP |
19 | g.18868952G= | CA2326567641 | CERS1,GDF1 | c.*1033C= (n.*1033C=) c.764C= (p.Ala255=) c.*1625C= (n.*1625C=) | |
19 | g.18868952G>T | CA404862417 | CERS1,GDF1 | c.*1033C>A (n.*1033C>A) c.764C>A (p.Ala255Asp) c.*1625C>A (n.*1625C>A) | gnomAD v4 |
19 | g.18868955_18868959del | CA2326567640 | CERS1,GDF1 | c.*1029_*1033del (n.*1029_*1033del) c.760_764del (p.Asp254ArgfsTer?) c.*1621_*1625del (n.*1621_*1625del) | dbSNP |
19 | g.18868953C>A | CA404862418 | CERS1,GDF1 | c.*1032G>T (n.*1032G>T) c.763G>T (p.Ala255Ser) c.*1624G>T (n.*1624G>T) | gnomAD v4 |
19 | g.18868953C= | CA2326567642 | CERS1,GDF1 | c.*1032G= (n.*1032G=) c.763G= (p.Ala255=) c.*1624G= (n.*1624G=) | |
19 | g.18868953C>G | CA404862419 | CERS1,GDF1 | c.*1032G>C (n.*1032G>C) c.763G>C (p.Ala255Pro) c.*1624G>C (n.*1624G>C) | gnomAD v4 |
19 | g.18868953C>T | CA306231681 | CERS1,GDF1 | c.*1032G>A (n.*1032G>A) c.763G>A (p.Ala255Thr) c.*1624G>A (n.*1624G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868954G>A | CA506118487 | CERS1,GDF1 | c.*1031C>T (n.*1031C>T) c.762C>T (p.Asp254=) c.*1623C>T (n.*1623C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868954G>C | CA404862420 | CERS1,GDF1 | c.*1031C>G (n.*1031C>G) c.762C>G (p.Asp254Glu) c.*1623C>G (n.*1623C>G) | gnomAD v4 |
19 | g.18868954G= | CA2326567643 | CERS1,GDF1 | c.*1031C= (n.*1031C=) c.762C= (p.Asp254=) c.*1623C= (n.*1623C=) | |
19 | g.18868954G>T | CA404862421 | CERS1,GDF1 | c.*1031C>A (n.*1031C>A) c.762C>A (p.Asp254Glu) c.*1623C>A (n.*1623C>A) | dbSNP gnomAD v4 |
19 | g.18868955T>A | CA404862422 | CERS1,GDF1 | c.*1030A>T (n.*1030A>T) c.761A>T (p.Asp254Val) c.*1622A>T (n.*1622A>T) | |
19 | g.18868955T>C | CA404862423 | CERS1,GDF1 | c.*1030A>G (n.*1030A>G) c.761A>G (p.Asp254Gly) c.*1622A>G (n.*1622A>G) | gnomAD v4 |
19 | g.18868955T>G | CA404862424 | CERS1,GDF1 | c.*1030A>C (n.*1030A>C) c.761A>C (p.Asp254Ala) c.*1622A>C (n.*1622A>C) | ClinVar |
19 | g.18868956C>A | CA404862427 | CERS1,GDF1 | c.*1029G>T (n.*1029G>T) c.760G>T (p.Asp254Tyr) c.*1621G>T (n.*1621G>T) | gnomAD v4 |
19 | g.18868956C>G | CA404862425 | CERS1,GDF1 | c.*1029G>C (n.*1029G>C) c.760G>C (p.Asp254His) c.*1621G>C (n.*1621G>C) | gnomAD v4 |
19 | g.18868956C>T | CA404862426 | CERS1,GDF1 | c.*1029G>A (n.*1029G>A) c.760G>A (p.Asp254Asn) c.*1621G>A (n.*1621G>A) | gnomAD v3 gnomAD v4 |
19 | g.18868957G>A | CA506118493 | CERS1,GDF1 | c.*1028C>T (n.*1028C>T) c.759C>T (p.Arg253=) c.*1620C>T (n.*1620C>T) | gnomAD v4 |
19 | g.18868957G>C | CA506118494 | CERS1,GDF1 | c.*1028C>G (n.*1028C>G) c.759C>G (p.Arg253=) c.*1620C>G (n.*1620C>G) | |
19 | g.18868957G= | CA2326567644 | CERS1,GDF1 | c.*1028C= (n.*1028C=) c.759C= (p.Arg253=) c.*1620C= (n.*1620C=) | |
19 | g.18868957G>T | CA506118495 | CERS1,GDF1 | c.*1028C>A (n.*1028C>A) c.759C>A (p.Arg253=) c.*1620C>A (n.*1620C>A) | dbSNP gnomAD v4 |
19 | g.18868958C>A | CA404862428 | CERS1,GDF1 | c.*1027G>T (n.*1027G>T) c.758G>T (p.Arg253Leu) c.*1619G>T (n.*1619G>T) | gnomAD v4 |
19 | g.18868958C>G | CA404862429 | CERS1,GDF1 | c.*1027G>C (n.*1027G>C) c.758G>C (p.Arg253Pro) c.*1619G>C (n.*1619G>C) | |
19 | g.18868958C>T | CA404862430 | CERS1,GDF1 | c.*1027G>A (n.*1027G>A) c.758G>A (p.Arg253His) c.*1619G>A (n.*1619G>A) | gnomAD v4 |
19 | g.18868959G>A | CA404862431 | CERS1,GDF1 | c.*1026C>T (n.*1026C>T) c.757C>T (p.Arg253Cys) c.*1618C>T (n.*1618C>T) | gnomAD v4 |
19 | g.18868959G>C | CA404862432 | CERS1,GDF1 | c.*1026C>G (n.*1026C>G) c.757C>G (p.Arg253Gly) c.*1618C>G (n.*1618C>G) | gnomAD v4 |
19 | g.18868959G>T | CA404862433 | CERS1,GDF1 | c.*1026C>A (n.*1026C>A) c.757C>A (p.Arg253Ser) c.*1618C>A (n.*1618C>A) | gnomAD v4 |
19 | g.18868960C>A | CA506118501 | CERS1,GDF1 | c.*1025G>T (n.*1025G>T) c.756G>T (p.Arg252=) c.*1617G>T (n.*1617G>T) | gnomAD v4 |
19 | g.18868960C>G | CA506118502 | CERS1,GDF1 | c.*1025G>C (n.*1025G>C) c.756G>C (p.Arg252=) c.*1617G>C (n.*1617G>C) | gnomAD v4 |
19 | g.18868960C>T | CA506118503 | CERS1,GDF1 | c.*1025G>A (n.*1025G>A) c.756G>A (p.Arg252=) c.*1617G>A (n.*1617G>A) | gnomAD v4 |
19 | g.18868961C>A | CA404862435 | CERS1,GDF1 | c.*1024G>T (n.*1024G>T) c.755G>T (p.Arg252Leu) c.*1616G>T (n.*1616G>T) | gnomAD v4 |
19 | g.18868961C>G | CA404862436 | CERS1,GDF1 | c.*1024G>C (n.*1024G>C) c.755G>C (p.Arg252Pro) c.*1616G>C (n.*1616G>C) | |
19 | g.18868961C>T | CA404862434 | CERS1,GDF1 | c.*1024G>A (n.*1024G>A) c.755G>A (p.Arg252Gln) c.*1616G>A (n.*1616G>A) | gnomAD v4 |
19 | g.18868961_18868962insTGTC | CA2583634739 | CERS1,GDF1 | c.*1024_*1025insACAG (n.*1024_*1025insACAG) c.755_756insACAG (p.Arg253GlnfsTer?) c.*1616_*1617insACAG (n.*1616_*1617insACAG) | gnomAD v4 |
19 | g.18868962G>A | CA404862437 | CERS1,GDF1 | c.*1023C>T (n.*1023C>T) c.754C>T (p.Arg252Trp) c.*1615C>T (n.*1615C>T) | gnomAD v4 |
19 | g.18868962G>C | CA404862438 | CERS1,GDF1 | c.*1023C>G (n.*1023C>G) c.754C>G (p.Arg252Gly) c.*1615C>G (n.*1615C>G) | |
19 | g.18868962G>T | CA506118504 | CERS1,GDF1 | c.*1023C>A (n.*1023C>A) c.754C>A (p.Arg252=) c.*1615C>A (n.*1615C>A) | gnomAD v4 |
19 | g.18868963C>A | CA506118506 | CERS1,GDF1 | c.*1022G>T (n.*1022G>T) c.753G>T (p.Pro251=) c.*1614G>T (n.*1614G>T) | gnomAD v4 |
19 | g.18868963C= | CA2326567645 | CERS1,GDF1 | c.*1022G= (n.*1022G=) c.753G= (p.Pro251=) c.*1614G= (n.*1614G=) | |
19 | g.18868963C>G | CA506118508 | CERS1,GDF1 | c.*1022G>C (n.*1022G>C) c.753G>C (p.Pro251=) c.*1614G>C (n.*1614G>C) | |
19 | g.18868963C>T | CA506118510 | CERS1,GDF1 | c.*1022G>A (n.*1022G>A) c.753G>A (p.Pro251=) c.*1614G>A (n.*1614G>A) | dbSNP gnomAD v4 |
19 | g.18868964G>A | CA404862439 | CERS1,GDF1 | c.*1021C>T (n.*1021C>T) c.752C>T (p.Pro251Leu) c.*1613C>T (n.*1613C>T) | gnomAD v4 |
19 | g.18868964G>C | CA404862440 | CERS1,GDF1 | c.*1021C>G (n.*1021C>G) c.752C>G (p.Pro251Arg) c.*1613C>G (n.*1613C>G) | dbSNP |
19 | g.18868964G= | CA2326567646 | CERS1,GDF1 | c.*1021C= (n.*1021C=) c.752C= (p.Pro251=) c.*1613C= (n.*1613C=) | |
19 | g.18868964G>T | CA404862441 | CERS1,GDF1 | c.*1021C>A (n.*1021C>A) c.752C>A (p.Pro251Gln) c.*1613C>A (n.*1613C>A) | gnomAD v4 |
19 | g.18868965G>A | CA404862442 | CERS1,GDF1 | c.*1020C>T (n.*1020C>T) c.751C>T (p.Pro251Ser) c.*1612C>T (n.*1612C>T) | gnomAD v4 |
19 | g.18868965G>C | CA404862443 | CERS1,GDF1 | c.*1020C>G (n.*1020C>G) c.751C>G (p.Pro251Ala) c.*1612C>G (n.*1612C>G) | gnomAD v4 |
19 | g.18868965G>T | CA404862444 | CERS1,GDF1 | c.*1020C>A (n.*1020C>A) c.751C>A (p.Pro251Thr) c.*1612C>A (n.*1612C>A) | gnomAD v4 |
19 | g.18868966C>A | CA506118511 | CERS1,GDF1 | c.*1019G>T (n.*1019G>T) c.750G>T (p.Arg250=) c.*1611G>T (n.*1611G>T) | gnomAD v4 |
19 | g.18868966C>G | CA506118514 | CERS1,GDF1 | c.*1019G>C (n.*1019G>C) c.750G>C (p.Arg250=) c.*1611G>C (n.*1611G>C) | |
19 | g.18868966C>T | CA506118512 | CERS1,GDF1 | c.*1019G>A (n.*1019G>A) c.750G>A (p.Arg250=) c.*1611G>A (n.*1611G>A) | gnomAD v4 |
19 | g.18868967C>A | CA404862447 | CERS1,GDF1 | c.*1018G>T (n.*1018G>T) c.749G>T (p.Arg250Leu) c.*1610G>T (n.*1610G>T) | gnomAD v4 |
19 | g.18868967C= | CA2326567647 | CERS1,GDF1 | c.*1018G= (n.*1018G=) c.749G= (p.Arg250=) c.*1610G= (n.*1610G=) | |
19 | g.18868967C>G | CA404862445 | CERS1,GDF1 | c.*1018G>C (n.*1018G>C) c.749G>C (p.Arg250Pro) c.*1610G>C (n.*1610G>C) | |
19 | g.18868967C>T | CA404862446 | CERS1,GDF1 | c.*1018G>A (n.*1018G>A) c.749G>A (p.Arg250Gln) c.*1610G>A (n.*1610G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868968G>A | CA404862448 | CERS1,GDF1 | c.*1017C>T (n.*1017C>T) c.748C>T (p.Arg250Trp) c.*1609C>T (n.*1609C>T) | gnomAD v4 |
19 | g.18868968G>C | CA404862449 | CERS1,GDF1 | c.*1017C>G (n.*1017C>G) c.748C>G (p.Arg250Gly) c.*1609C>G (n.*1609C>G) | |
19 | g.18868968G>T | CA506118516 | CERS1,GDF1 | c.*1017C>A (n.*1017C>A) c.748C>A (p.Arg250=) c.*1609C>A (n.*1609C>A) | gnomAD v4 |
19 | g.18868969G>A | CA506118517 | CERS1,GDF1 | c.*1016C>T (n.*1016C>T) c.747C>T (p.Ala249=) c.*1608C>T (n.*1608C>T) | gnomAD v4 |
19 | g.18868969G>C | CA506118519 | CERS1,GDF1 | c.*1016C>G (n.*1016C>G) c.747C>G (p.Ala249=) c.*1608C>G (n.*1608C>G) | gnomAD v4 |
19 | g.18868969G>T | CA506118521 | CERS1,GDF1 | c.*1016C>A (n.*1016C>A) c.747C>A (p.Ala249=) c.*1608C>A (n.*1608C>A) | gnomAD v4 |
19 | g.18868970G>A | CA404862450 | CERS1,GDF1 | c.*1015C>T (n.*1015C>T) c.746C>T (p.Ala249Val) c.*1607C>T (n.*1607C>T) | gnomAD v4 |
19 | g.18868970G>C | CA404862451 | CERS1,GDF1 | c.*1015C>G (n.*1015C>G) c.746C>G (p.Ala249Gly) c.*1607C>G (n.*1607C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868970G= | CA2326567648 | CERS1,GDF1 | c.*1015C= (n.*1015C=) c.746C= (p.Ala249=) c.*1607C= (n.*1607C=) | |
19 | g.18868970G>T | CA404862452 | CERS1,GDF1 | c.*1015C>A (n.*1015C>A) c.746C>A (p.Ala249Asp) c.*1607C>A (n.*1607C>A) | gnomAD v4 |
19 | g.18868971C>A | CA404862453 | CERS1,GDF1 | c.*1014G>T (n.*1014G>T) c.745G>T (p.Ala249Ser) c.*1606G>T (n.*1606G>T) | gnomAD v4 |
19 | g.18868971C>G | CA404862455 | CERS1,GDF1 | c.*1014G>C (n.*1014G>C) c.745G>C (p.Ala249Pro) c.*1606G>C (n.*1606G>C) | |
19 | g.18868971C>T | CA404862454 | CERS1,GDF1 | c.*1014G>A (n.*1014G>A) c.745G>A (p.Ala249Thr) c.*1606G>A (n.*1606G>A) | gnomAD v4 |
19 | g.18868972C>A | CA506118523 | CERS1,GDF1 | c.*1013G>T (n.*1013G>T) c.744G>T (p.Leu248=) c.*1605G>T (n.*1605G>T) | gnomAD v4 |
19 | g.18868972C>G | CA506118526 | CERS1,GDF1 | c.*1013G>C (n.*1013G>C) c.744G>C (p.Leu248=) c.*1605G>C (n.*1605G>C) | |
19 | g.18868972C>T | CA506118524 | CERS1,GDF1 | c.*1013G>A (n.*1013G>A) c.744G>A (p.Leu248=) c.*1605G>A (n.*1605G>A) | gnomAD v4 |
19 | g.18868973del | CA2576726648 | CERS1,GDF1 | c.*1012del (n.*1012del) c.743del (p.Leu248ArgfsTer27) c.*1604del (n.*1604del) | |
19 | g.18868973A>C | CA404862456 | CERS1,GDF1 | c.*1012T>G (n.*1012T>G) c.743T>G (p.Leu248Arg) c.*1604T>G (n.*1604T>G) | |
19 | g.18868973A>G | CA404862457 | CERS1,GDF1 | c.*1012T>C (n.*1012T>C) c.743T>C (p.Leu248Pro) c.*1604T>C (n.*1604T>C) | gnomAD v4 |
19 | g.18868973A>T | CA404862458 | CERS1,GDF1 | c.*1012T>A (n.*1012T>A) c.743T>A (p.Leu248Gln) c.*1604T>A (n.*1604T>A) | |
19 | g.18868973_18868974delinsAG | CA2326567649 | CERS1,GDF1 | c.*1011_*1012delinsCT (n.*1011_*1012delinsCT) c.742_743delinsCT (p.Leu248=) c.*1603_*1604delinsCT (n.*1603_*1604delinsCT) | |
19 | g.18868974G>A | CA506118529 | CERS1,GDF1 | c.*1011C>T (n.*1011C>T) c.742C>T (p.Leu248=) c.*1603C>T (n.*1603C>T) | gnomAD v4 |
19 | g.18868974G>C | CA404862459 | CERS1,GDF1 | c.*1011C>G (n.*1011C>G) c.742C>G (p.Leu248Val) c.*1603C>G (n.*1603C>G) | dbSNP gnomAD v4 |
19 | g.18868974G>T | CA404862460 | CERS1,GDF1 | c.*1011C>A (n.*1011C>A) c.742C>A (p.Leu248Met) c.*1603C>A (n.*1603C>A) | gnomAD v4 |
19 | g.18868978dup | CA632627050 | CERS1,GDF1 | c.*1011dup (n.*1011dup) c.742dup (p.Leu248ProfsTer?) c.*1603dup (n.*1603dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868978del | CA306231690 | CERS1,GDF1 | c.*1011del (n.*1011del) c.742del (p.Leu248TrpfsTer27) c.*1603del (n.*1603del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868975G>A | CA506118530 | CERS1,GDF1 | c.*1010C>T (n.*1010C>T) c.741C>T (p.Pro247=) c.*1602C>T (n.*1602C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.18868975G>C | CA506118531 | CERS1,GDF1 | c.*1010C>G (n.*1010C>G) c.741C>G (p.Pro247=) c.*1602C>G (n.*1602C>G) | |
19 | g.18868975G= | CA2326567650 | CERS1,GDF1 | c.*1010C= (n.*1010C=) c.741C= (p.Pro247=) c.*1602C= (n.*1602C=) | |
19 | g.18868975G>T | CA506118533 | CERS1,GDF1 | c.*1010C>A (n.*1010C>A) c.741C>A (p.Pro247=) c.*1602C>A (n.*1602C>A) | gnomAD v4 |
19 | g.18868976G>A | CA404862461 | CERS1,GDF1 | c.*1009C>T (n.*1009C>T) c.740C>T (p.Pro247Leu) c.*1601C>T (n.*1601C>T) | dbSNP gnomAD v4 |
19 | g.18868976G>C | CA404862462 | CERS1,GDF1 | c.*1009C>G (n.*1009C>G) c.740C>G (p.Pro247Arg) c.*1601C>G (n.*1601C>G) | |
19 | g.18868976G= | CA2326567651 | CERS1,GDF1 | c.*1009C= (n.*1009C=) c.740C= (p.Pro247=) c.*1601C= (n.*1601C=) | |
19 | g.18868976G>T | CA404862463 | CERS1,GDF1 | c.*1009C>A (n.*1009C>A) c.740C>A (p.Pro247His) c.*1601C>A (n.*1601C>A) | dbSNP gnomAD v4 |
19 | g.18868977G>A | CA404862464 | CERS1,GDF1 | c.*1008C>T (n.*1008C>T) c.739C>T (p.Pro247Ser) c.*1600C>T (n.*1600C>T) | gnomAD v4 |
19 | g.18868977G>C | CA404862465 | CERS1,GDF1 | c.*1008C>G (n.*1008C>G) c.739C>G (p.Pro247Ala) c.*1600C>G (n.*1600C>G) | |
19 | g.18868977G>T | CA404862466 | CERS1,GDF1 | c.*1008C>A (n.*1008C>A) c.739C>A (p.Pro247Thr) c.*1600C>A (n.*1600C>A) | gnomAD v4 |
19 | g.18868978G>A | CA506118536 | CERS1,GDF1 | c.*1007C>T (n.*1007C>T) c.738C>T (p.His246=) c.*1599C>T (n.*1599C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.18868978G>C | CA404862467 | CERS1,GDF1 | c.*1007C>G (n.*1007C>G) c.738C>G (p.His246Gln) c.*1599C>G (n.*1599C>G) | |
19 | g.18868978G= | CA2326567652 | CERS1,GDF1 | c.*1007C= (n.*1007C=) c.738C= (p.His246=) c.*1599C= (n.*1599C=) | |
19 | g.18868978G>T | CA404862468 | CERS1,GDF1 | c.*1007C>A (n.*1007C>A) c.738C>A (p.His246Gln) c.*1599C>A (n.*1599C>A) | gnomAD v4 |
19 | g.18868979del | CA2813841590 | CERS1,GDF1 | c.*1006del (n.*1006del) c.737del (p.His246ProfsTer29) c.*1598del (n.*1598del) | |
19 | g.18868979T>A | CA404862469 | CERS1,GDF1 | c.*1006A>T (n.*1006A>T) c.737A>T (p.His246Leu) c.*1598A>T (n.*1598A>T) | |
19 | g.18868979T>C | CA404862470 | CERS1,GDF1 | c.*1006A>G (n.*1006A>G) c.737A>G (p.His246Arg) c.*1598A>G (n.*1598A>G) | gnomAD v4 |
19 | g.18868979T>G | CA404862471 | CERS1,GDF1 | c.*1006A>C (n.*1006A>C) c.737A>C (p.His246Pro) c.*1598A>C (n.*1598A>C) | dbSNP |
19 | g.18868980G>A | CA404862472 | CERS1,GDF1 | c.*1005C>T (n.*1005C>T) c.736C>T (p.His246Tyr) c.*1597C>T (n.*1597C>T) | gnomAD v4 |
19 | g.18868980G>C | CA404862473 | CERS1,GDF1 | c.*1005C>G (n.*1005C>G) c.736C>G (p.His246Asp) c.*1597C>G (n.*1597C>G) | |
19 | g.18868980G>T | CA404862474 | CERS1,GDF1 | c.*1005C>A (n.*1005C>A) c.736C>A (p.His246Asn) c.*1597C>A (n.*1597C>A) | gnomAD v4 |
19 | g.18868981G>A | CA506118542 | CERS1,GDF1 | c.*1004C>T (n.*1004C>T) c.735C>T (p.Cys245=) c.*1596C>T (n.*1596C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868981G>C | CA404862476 | CERS1,GDF1 | c.*1004C>G (n.*1004C>G) c.735C>G (p.Cys245Trp) c.*1596C>G (n.*1596C>G) | |
19 | g.18868981G= | CA2326567653 | CERS1,GDF1 | c.*1004C= (n.*1004C=) c.735C= (p.Cys245=) c.*1596C= (n.*1596C=) | |
19 | g.18868981G>T | CA404862475 | CERS1,GDF1 | c.*1004C>A (n.*1004C>A) c.735C>A (p.Cys245Ter) c.*1596C>A (n.*1596C>A) | gnomAD v4 |
19 | g.18868982C>A | CA404862477 | CERS1,GDF1 | c.*1003G>T (n.*1003G>T) c.734G>T (p.Cys245Phe) c.*1595G>T (n.*1595G>T) | gnomAD v4 |
19 | g.18868982C= | CA2326567654 | CERS1,GDF1 | c.*1003G= (n.*1003G=) c.734G= (p.Cys245=) c.*1595G= (n.*1595G=) | |
19 | g.18868982C>G | CA404862478 | CERS1,GDF1 | c.*1003G>C (n.*1003G>C) c.734G>C (p.Cys245Ser) c.*1595G>C (n.*1595G>C) | |
19 | g.18868982C>T | CA404862479 | CERS1,GDF1 | c.*1003G>A (n.*1003G>A) c.734G>A (p.Cys245Tyr) c.*1595G>A (n.*1595G>A) | dbSNP gnomAD v4 |
19 | g.18868983A= | CA2326567655 | CERS1,GDF1 | c.*1002T= (n.*1002T=) c.733T= (p.Cys245=) c.*1594T= (n.*1594T=) | |
19 | g.18868983A>C | CA404862480 | CERS1,GDF1 | c.*1002T>G (n.*1002T>G) c.733T>G (p.Cys245Gly) c.*1594T>G (n.*1594T>G) | |
19 | g.18868983A>G | CA404862481 | CERS1,GDF1 | c.*1002T>C (n.*1002T>C) c.733T>C (p.Cys245Arg) c.*1594T>C (n.*1594T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868983A>T | CA404862482 | CERS1,GDF1 | c.*1002T>A (n.*1002T>A) c.733T>A (p.Cys245Ser) c.*1594T>A (n.*1594T>A) | |
19 | g.18868984C>A | CA506118545 | CERS1,GDF1 | c.*1001G>T (n.*1001G>T) c.732G>T (p.Leu244=) c.*1593G>T (n.*1593G>T) | gnomAD v4 |
19 | g.18868984C>G | CA506118547 | CERS1,GDF1 | c.*1001G>C (n.*1001G>C) c.732G>C (p.Leu244=) c.*1593G>C (n.*1593G>C) | gnomAD v4 |
19 | g.18868984C>T | CA506118549 | CERS1,GDF1 | c.*1001G>A (n.*1001G>A) c.732G>A (p.Leu244=) c.*1593G>A (n.*1593G>A) | gnomAD v4 |
19 | g.18868985A>C | CA404862483 | CERS1,GDF1 | c.*1000T>G (n.*1000T>G) c.731T>G (p.Leu244Arg) c.*1592T>G (n.*1592T>G) | gnomAD v4 |
19 | g.18868985A>G | CA404862485 | CERS1,GDF1 | c.*1000T>C (n.*1000T>C) c.731T>C (p.Leu244Pro) c.*1592T>C (n.*1592T>C) | gnomAD v4 |
19 | g.18868985A>T | CA404862484 | CERS1,GDF1 | c.*1000T>A (n.*1000T>A) c.731T>A (p.Leu244Gln) c.*1592T>A (n.*1592T>A) | gnomAD v4 |
19 | g.18868986G>A | CA506118555 | CERS1,GDF1 | c.*999C>T (n.*999C>T) c.730C>T (p.Leu244=) c.*1591C>T (n.*1591C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868986G>C | CA404862486 | CERS1,GDF1 | c.*999C>G (n.*999C>G) c.730C>G (p.Leu244Val) c.*1591C>G (n.*1591C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868986G= | CA2326567656 | CERS1,GDF1 | c.*999C= (n.*999C=) c.730C= (p.Leu244=) c.*1591C= (n.*1591C=) | |
19 | g.18868986G>T | CA404862487 | CERS1,GDF1 | c.*999C>A (n.*999C>A) c.730C>A (p.Leu244Met) c.*1591C>A (n.*1591C>A) | gnomAD v4 |
19 | g.18868987del | CA2576726649 | CERS1,GDF1 | c.*999del (n.*999del) c.730del (p.Leu244CysfsTer?) c.*1591del (n.*1591del) | |
19 | g.18868987G>A | CA506118559 | CERS1,GDF1 | c.*998C>T (n.*998C>T) c.729C>T (p.Arg243=) c.*1590C>T (n.*1590C>T) | gnomAD v4 |
19 | g.18868987G>C | CA506118558 | CERS1,GDF1 | c.*998C>G (n.*998C>G) c.729C>G (p.Arg243=) c.*1590C>G (n.*1590C>G) | |
19 | g.18868987G>T | CA506118560 | CERS1,GDF1 | c.*998C>A (n.*998C>A) c.729C>A (p.Arg243=) c.*1590C>A (n.*1590C>A) | gnomAD v4 |
19 | g.18868988del | CA2583634740 | CERS1,GDF1 | c.*997del (n.*997del) c.728del (p.Arg243ProfsTer?) c.*1589del (n.*1589del) | gnomAD v4 |
19 | g.18868988C>A | CA404862488 | CERS1,GDF1 | c.*997G>T (n.*997G>T) c.728G>T (p.Arg243Leu) c.*1589G>T (n.*1589G>T) | gnomAD v4 |
19 | g.18868988C>G | CA404862489 | CERS1,GDF1 | c.*997G>C (n.*997G>C) c.728G>C (p.Arg243Pro) c.*1589G>C (n.*1589G>C) | gnomAD v4 |
19 | g.18868988C>T | CA404862490 | CERS1,GDF1 | c.*997G>A (n.*997G>A) c.728G>A (p.Arg243His) c.*1589G>A (n.*1589G>A) | gnomAD v4 |
19 | g.18868989G>A | CA404862491 | CERS1,GDF1 | c.*996C>T (n.*996C>T) c.727C>T (p.Arg243Cys) c.*1588C>T (n.*1588C>T) | gnomAD v4 |
19 | g.18868989G>C | CA404862492 | CERS1,GDF1 | c.*996C>G (n.*996C>G) c.727C>G (p.Arg243Gly) c.*1588C>G (n.*1588C>G) | |
19 | g.18868989G>T | CA404862493 | CERS1,GDF1 | c.*996C>A (n.*996C>A) c.727C>A (p.Arg243Ser) c.*1588C>A (n.*1588C>A) | gnomAD v4 |
19 | g.18868990C>A | CA506118562 | CERS1,GDF1 | c.*995G>T (n.*995G>T) c.726G>T (p.Pro242=) c.*1587G>T (n.*1587G>T) | gnomAD v4 |
19 | g.18868990C= | CA2326567657 | CERS1,GDF1 | c.*995G= (n.*995G=) c.726G= (p.Pro242=) c.*1587G= (n.*1587G=) | |
19 | g.18868990C>G | CA506118563 | CERS1,GDF1 | c.*995G>C (n.*995G>C) c.726G>C (p.Pro242=) c.*1587G>C (n.*1587G>C) | |
19 | g.18868990C>T | CA306231695 | CERS1,GDF1 | c.*995G>A (n.*995G>A) c.726G>A (p.Pro242=) c.*1587G>A (n.*1587G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868991G>A | CA404862494 | CERS1,GDF1 | c.*994C>T (n.*994C>T) c.725C>T (p.Pro242Leu) c.*1586C>T (n.*1586C>T) | gnomAD v4 |
19 | g.18868991G>C | CA404862495 | CERS1,GDF1 | c.*994C>G (n.*994C>G) c.725C>G (p.Pro242Arg) c.*1586C>G (n.*1586C>G) | |
19 | g.18868991G>T | CA404862496 | CERS1,GDF1 | c.*994C>A (n.*994C>A) c.725C>A (p.Pro242Gln) c.*1586C>A (n.*1586C>A) | gnomAD v4 |
19 | g.18868992G>A | CA404862499 | CERS1,GDF1 | c.*993C>T (n.*993C>T) c.724C>T (p.Pro242Ser) c.*1585C>T (n.*1585C>T) | gnomAD v4 |
19 | g.18868992G>C | CA404862497 | CERS1,GDF1 | c.*993C>G (n.*993C>G) c.724C>G (p.Pro242Ala) c.*1585C>G (n.*1585C>G) | |
19 | g.18868992G>T | CA404862498 | CERS1,GDF1 | c.*993C>A (n.*993C>A) c.724C>A (p.Pro242Thr) c.*1585C>A (n.*1585C>A) | gnomAD v4 |
19 | g.18868993G>A | CA506118566 | CERS1,GDF1 | c.*992C>T (n.*992C>T) c.723C>T (p.Asp241=) c.*1584C>T (n.*1584C>T) | gnomAD v4 |
19 | g.18868993G>C | CA404862500 | CERS1,GDF1 | c.*992C>G (n.*992C>G) c.723C>G (p.Asp241Glu) c.*1584C>G (n.*1584C>G) | |
19 | g.18868993G>T | CA404862501 | CERS1,GDF1 | c.*992C>A (n.*992C>A) c.723C>A (p.Asp241Glu) c.*1584C>A (n.*1584C>A) | gnomAD v4 |
19 | g.18868994T>A | CA404862502 | CERS1,GDF1 | c.*991A>T (n.*991A>T) c.722A>T (p.Asp241Val) c.*1583A>T (n.*1583A>T) | |
19 | g.18868994T>C | CA404862503 | CERS1,GDF1 | c.*991A>G (n.*991A>G) c.722A>G (p.Asp241Gly) c.*1583A>G (n.*1583A>G) | gnomAD v4 |
19 | g.18868994T>G | CA404862504 | CERS1,GDF1 | c.*991A>C (n.*991A>C) c.722A>C (p.Asp241Ala) c.*1583A>C (n.*1583A>C) | |
19 | g.18868995C>A | CA404862505 | CERS1,GDF1 | c.*990G>T (n.*990G>T) c.721G>T (p.Asp241Tyr) c.*1582G>T (n.*1582G>T) | gnomAD v4 |
19 | g.18868995C= | CA2326567658 | CERS1,GDF1 | c.*990G= (n.*990G=) c.721G= (p.Asp241=) c.*1582G= (n.*1582G=) | |
19 | g.18868995C>G | CA404862506 | CERS1,GDF1 | c.*990G>C (n.*990G>C) c.721G>C (p.Asp241His) c.*1582G>C (n.*1582G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18868995C>T | CA404862507 | CERS1,GDF1 | c.*990G>A (n.*990G>A) c.721G>A (p.Asp241Asn) c.*1582G>A (n.*1582G>A) | gnomAD v4 |
19 | g.18868996G>A | CA506118570 | CERS1,GDF1 | c.*989C>T (n.*989C>T) c.720C>T (p.Leu240=) c.*1581C>T (n.*1581C>T) | gnomAD v4 |
19 | g.18868996G>C | CA506118571 | CERS1,GDF1 | c.*989C>G (n.*989C>G) c.720C>G (p.Leu240=) c.*1581C>G (n.*1581C>G) | |
19 | g.18868996G>T | CA506118572 | CERS1,GDF1 | c.*989C>A (n.*989C>A) c.720C>A (p.Leu240=) c.*1581C>A (n.*1581C>A) | gnomAD v4 |
19 | g.18868997A>C | CA404862508 | CERS1,GDF1 | c.*988T>G (n.*988T>G) c.719T>G (p.Leu240Arg) c.*1580T>G (n.*1580T>G) | |
19 | g.18868997A>G | CA404862509 | CERS1,GDF1 | c.*988T>C (n.*988T>C) c.719T>C (p.Leu240Pro) c.*1580T>C (n.*1580T>C) | gnomAD v4 |
19 | g.18868997A>T | CA404862510 | CERS1,GDF1 | c.*988T>A (n.*988T>A) c.719T>A (p.Leu240His) c.*1580T>A (n.*1580T>A) | gnomAD v4 |
19 | g.18868998G>A | CA404862511 | CERS1,GDF1 | c.*987C>T (n.*987C>T) c.718C>T (p.Leu240Phe) c.*1579C>T (n.*1579C>T) | gnomAD v4 |
19 | g.18868998G>C | CA404862512 | CERS1,GDF1 | c.*987C>G (n.*987C>G) c.718C>G (p.Leu240Val) c.*1579C>G (n.*1579C>G) | gnomAD v4 |
19 | g.18868998G= | CA2326567659 | CERS1,GDF1 | c.*987C= (n.*987C=) c.718C= (p.Leu240=) c.*1579C= (n.*1579C=) | |
19 | g.18868998G>T | CA404862513 | CERS1,GDF1 | c.*987C>A (n.*987C>A) c.718C>A (p.Leu240Ile) c.*1579C>A (n.*1579C>A) | gnomAD v4 |
19 | g.18868999G>A | CA506118575 | CERS1,GDF1 | c.*986C>T (n.*986C>T) c.717C>T (p.Thr239=) c.*1578C>T (n.*1578C>T) | gnomAD v4 |
19 | g.18868999G>C | CA506118576 | CERS1,GDF1 | c.*986C>G (n.*986C>G) c.717C>G (p.Thr239=) c.*1578C>G (n.*1578C>G) | |
19 | g.18868999G>T | CA506118577 | CERS1,GDF1 | c.*986C>A (n.*986C>A) c.717C>A (p.Thr239=) c.*1578C>A (n.*1578C>A) | gnomAD v4 |
19 | g.18869000_18869010dup | CA994235647 | CERS1,GDF1 | c.*976_*986dup (n.*976_*986dup) c.707_717dup (p.Leu240CysfsTer3) c.*1568_*1578dup (n.*1568_*1578dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869000G>A | CA404862516 | CERS1,GDF1 | c.*985C>T (n.*985C>T) c.716C>T (p.Thr239Ile) c.*1577C>T (n.*1577C>T) | gnomAD v4 |
19 | g.18869000G>C | CA404862515 | CERS1,GDF1 | c.*985C>G (n.*985C>G) c.716C>G (p.Thr239Ser) c.*1577C>G (n.*1577C>G) | |
19 | g.18869000G>T | CA404862514 | CERS1,GDF1 | c.*985C>A (n.*985C>A) c.716C>A (p.Thr239Asn) c.*1577C>A (n.*1577C>A) | gnomAD v4 |
19 | g.18869001T>A | CA404862517 | CERS1,GDF1 | c.*984A>T (n.*984A>T) c.715A>T (p.Thr239Ser) c.*1576A>T (n.*1576A>T) | |
19 | g.18869001T>C | CA404862518 | CERS1,GDF1 | c.*984A>G (n.*984A>G) c.715A>G (p.Thr239Ala) c.*1576A>G (n.*1576A>G) | gnomAD v4 |
19 | g.18869001T>G | CA404862519 | CERS1,GDF1 | c.*984A>C (n.*984A>C) c.715A>C (p.Thr239Pro) c.*1576A>C (n.*1576A>C) | |
19 | g.18869002C>A | CA506118583 | CERS1,GDF1 | c.*983G>T (n.*983G>T) c.714G>T (p.Val238=) c.*1575G>T (n.*1575G>T) | gnomAD v4 |
19 | g.18869002C>G | CA506118581 | CERS1,GDF1 | c.*983G>C (n.*983G>C) c.714G>C (p.Val238=) c.*1575G>C (n.*1575G>C) | |
19 | g.18869002C>T | CA506118579 | CERS1,GDF1 | c.*983G>A (n.*983G>A) c.714G>A (p.Val238=) c.*1575G>A (n.*1575G>A) | |
19 | g.18869003A>C | CA404862520 | CERS1,GDF1 | c.*982T>G (n.*982T>G) c.713T>G (p.Val238Gly) c.*1574T>G (n.*1574T>G) | |
19 | g.18869003A>G | CA404862521 | CERS1,GDF1 | c.*982T>C (n.*982T>C) c.713T>C (p.Val238Ala) c.*1574T>C (n.*1574T>C) | gnomAD v4 |
19 | g.18869003A>T | CA404862522 | CERS1,GDF1 | c.*982T>A (n.*982T>A) c.713T>A (p.Val238Glu) c.*1574T>A (n.*1574T>A) | |
19 | g.18869004C>A | CA404862523 | CERS1,GDF1 | c.*981G>T (n.*981G>T) c.712G>T (p.Val238Leu) c.*1573G>T (n.*1573G>T) | gnomAD v4 |
19 | g.18869004C>G | CA404862524 | CERS1,GDF1 | c.*981G>C (n.*981G>C) c.712G>C (p.Val238Leu) c.*1573G>C (n.*1573G>C) | |
19 | g.18869004C>T | CA404862525 | CERS1,GDF1 | c.*981G>A (n.*981G>A) c.712G>A (p.Val238Met) c.*1573G>A (n.*1573G>A) | |
19 | g.18869005del | CA2583634741 | CERS1,GDF1 | c.*981del (n.*981del) c.712del (p.Val238Ter) c.*1573del (n.*1573del) | gnomAD v4 |
19 | g.18869005_18869043del | CA2582001794 | CERS1,GDF1 | c.*943_*981del (n.*943_*981del) c.674_712del (p.Ala225_Leu237del) c.*1535_*1573del (n.*1535_*1573del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869005C>A | CA506118587 | CERS1,GDF1 | c.*980G>T (n.*980G>T) c.711G>T (p.Leu237=) c.*1572G>T (n.*1572G>T) | gnomAD v4 |
19 | g.18869005C= | CA2326567660 | CERS1,GDF1 | c.*980G= (n.*980G=) c.711G= (p.Leu237=) c.*1572G= (n.*1572G=) | |
19 | g.18869005C>G | CA506118589 | CERS1,GDF1 | c.*980G>C (n.*980G>C) c.711G>C (p.Leu237=) c.*1572G>C (n.*1572G>C) | |
19 | g.18869005C>T | CA306231697 | CERS1,GDF1 | c.*980G>A (n.*980G>A) c.711G>A (p.Leu237=) c.*1572G>A (n.*1572G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869012_18869014del | CA994235673 | CERS1,GDF1 | c.*978_*980del (n.*978_*980del) c.709_711del (p.Leu237del) c.*1570_*1572del (n.*1570_*1572del) | gnomAD v3 gnomAD v4 |
19 | g.18869006A>C | CA404862526 | CERS1,GDF1 | c.*979T>G (n.*979T>G) c.710T>G (p.Leu237Arg) c.*1571T>G (n.*1571T>G) | gnomAD v4 |
19 | g.18869006A>G | CA404862527 | CERS1,GDF1 | c.*979T>C (n.*979T>C) c.710T>C (p.Leu237Pro) c.*1571T>C (n.*1571T>C) | gnomAD v4 |
19 | g.18869006A>T | CA404862528 | CERS1,GDF1 | c.*979T>A (n.*979T>A) c.710T>A (p.Leu237Gln) c.*1571T>A (n.*1571T>A) | gnomAD v4 |
19 | g.18869007G>A | CA506118591 | CERS1,GDF1 | c.*978C>T (n.*978C>T) c.709C>T (p.Leu237=) c.*1570C>T (n.*1570C>T) | gnomAD v4 |
19 | g.18869007G>C | CA404862530 | CERS1,GDF1 | c.*978C>G (n.*978C>G) c.709C>G (p.Leu237Val) c.*1570C>G (n.*1570C>G) | gnomAD v4 |
19 | g.18869007G>T | CA404862529 | CERS1,GDF1 | c.*978C>A (n.*978C>A) c.709C>A (p.Leu237Met) c.*1570C>A (n.*1570C>A) | gnomAD v4 |
19 | g.18869008C>A | CA506118594 | CERS1,GDF1 | c.*977G>T (n.*977G>T) c.708G>T (p.Leu236=) c.*1569G>T (n.*1569G>T) | gnomAD v3 gnomAD v4 |
19 | g.18869008C>G | CA506118595 | CERS1,GDF1 | c.*977G>C (n.*977G>C) c.708G>C (p.Leu236=) c.*1569G>C (n.*1569G>C) | gnomAD v4 |
19 | g.18869008C>T | CA506118600 | CERS1,GDF1 | c.*977G>A (n.*977G>A) c.708G>A (p.Leu236=) c.*1569G>A (n.*1569G>A) | gnomAD v4 |
19 | g.18869009A>C | CA404862531 | CERS1,GDF1 | c.*976T>G (n.*976T>G) c.707T>G (p.Leu236Arg) c.*1568T>G (n.*1568T>G) | |
19 | g.18869009A>G | CA404862532 | CERS1,GDF1 | c.*976T>C (n.*976T>C) c.707T>C (p.Leu236Pro) c.*1568T>C (n.*1568T>C) | gnomAD v4 |
19 | g.18869009A>T | CA404862533 | CERS1,GDF1 | c.*976T>A (n.*976T>A) c.707T>A (p.Leu236Gln) c.*1568T>A (n.*1568T>A) | |
19 | g.18869010G>A | CA506118605 | CERS1,GDF1 | c.*975C>T (n.*975C>T) c.706C>T (p.Leu236=) c.*1567C>T (n.*1567C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869010G>C | CA404862534 | CERS1,GDF1 | c.*975C>G (n.*975C>G) c.706C>G (p.Leu236Val) c.*1567C>G (n.*1567C>G) | |
19 | g.18869010G= | CA2326567661 | CERS1,GDF1 | c.*975C= (n.*975C=) c.706C= (p.Leu236=) c.*1567C= (n.*1567C=) | |
19 | g.18869010G>T | CA404862535 | CERS1,GDF1 | c.*975C>A (n.*975C>A) c.706C>A (p.Leu236Met) c.*1567C>A (n.*1567C>A) | gnomAD v4 |
19 | g.18869011C>A | CA506118607 | CERS1,GDF1 | c.*974G>T (n.*974G>T) c.705G>T (p.Leu235=) c.*1566G>T (n.*1566G>T) | gnomAD v3 gnomAD v4 |
19 | g.18869011C= | CA2326567662 | CERS1,GDF1 | c.*974G= (n.*974G=) c.705G= (p.Leu235=) c.*1566G= (n.*1566G=) | |
19 | g.18869011C>G | CA506118609 | CERS1,GDF1 | c.*974G>C (n.*974G>C) c.705G>C (p.Leu235=) c.*1566G>C (n.*1566G>C) | |
19 | g.18869011C>T | CA506118610 | CERS1,GDF1 | c.*974G>A (n.*974G>A) c.705G>A (p.Leu235=) c.*1566G>A (n.*1566G>A) | gnomAD v4 |
19 | g.18869012A>C | CA404862536 | CERS1,GDF1 | c.*973T>G (n.*973T>G) c.704T>G (p.Leu235Arg) c.*1565T>G (n.*1565T>G) | |
19 | g.18869012A>G | CA404862537 | CERS1,GDF1 | c.*973T>C (n.*973T>C) c.704T>C (p.Leu235Pro) c.*1565T>C (n.*1565T>C) | gnomAD v4 |
19 | g.18869012A>T | CA404862538 | CERS1,GDF1 | c.*973T>A (n.*973T>A) c.704T>A (p.Leu235Gln) c.*1565T>A (n.*1565T>A) | |
19 | g.18869012_18869013del | CA2583634742 | CERS1,GDF1 | c.*972_*973del (n.*972_*973del) c.703_704del (p.Leu235AlafsTer?) c.*1564_*1565del (n.*1564_*1565del) | gnomAD v4 |
19 | g.18869014_18869017dup | CA783968700 | CERS1,GDF1 | c.*970_*973dup (n.*970_*973dup) c.701_704dup (p.Leu236AlafsTer?) c.*1562_*1565dup (n.*1562_*1565dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869013G>A | CA506118611 | CERS1,GDF1 | c.*972C>T (n.*972C>T) c.703C>T (p.Leu235=) c.*1564C>T (n.*1564C>T) | dbSNP gnomAD v4 |
19 | g.18869013G>C | CA404862539 | CERS1,GDF1 | c.*972C>G (n.*972C>G) c.703C>G (p.Leu235Val) c.*1564C>G (n.*1564C>G) | gnomAD v4 |
19 | g.18869013G= | CA2326567663 | CERS1,GDF1 | c.*972C= (n.*972C=) c.703C= (p.Leu235=) c.*1564C= (n.*1564C=) | |
19 | g.18869013G>T | CA404862540 | CERS1,GDF1 | c.*972C>A (n.*972C>A) c.703C>A (p.Leu235Met) c.*1564C>A (n.*1564C>A) | gnomAD v4 |
19 | g.18869014C>A | CA506118613 | CERS1,GDF1 | c.*971G>T (n.*971G>T) c.702G>T (p.Ser234=) c.*1563G>T (n.*1563G>T) | gnomAD v4 |
19 | g.18869014C>G | CA506118614 | CERS1,GDF1 | c.*971G>C (n.*971G>C) c.702G>C (p.Ser234=) c.*1563G>C (n.*1563G>C) | |
19 | g.18869014C>T | CA506118615 | CERS1,GDF1 | c.*971G>A (n.*971G>A) c.702G>A (p.Ser234=) c.*1563G>A (n.*1563G>A) | gnomAD v4 |
19 | g.18869015G>A | CA404862541 | CERS1,GDF1 | c.*970C>T (n.*970C>T) c.701C>T (p.Ser234Leu) c.*1562C>T (n.*1562C>T) | gnomAD v4 |
19 | g.18869015G>C | CA404862542 | CERS1,GDF1 | c.*970C>G (n.*970C>G) c.701C>G (p.Ser234Trp) c.*1562C>G (n.*1562C>G) | gnomAD v4 |
19 | g.18869015G= | CA2326567664 | CERS1,GDF1 | c.*970C= (n.*970C=) c.701C= (p.Ser234=) c.*1562C= (n.*1562C=) | |
19 | g.18869015G>T | CA404862543 | CERS1,GDF1 | c.*970C>A (n.*970C>A) c.701C>A (p.Ser234Ter) c.*1562C>A (n.*1562C>A) | dbSNP gnomAD v4 |
19 | g.18869016A>C | CA404862546 | CERS1,GDF1 | c.*969T>G (n.*969T>G) c.700T>G (p.Ser234Ala) c.*1561T>G (n.*1561T>G) | gnomAD v3 gnomAD v4 |
19 | g.18869016A>G | CA404862545 | CERS1,GDF1 | c.*969T>C (n.*969T>C) c.700T>C (p.Ser234Pro) c.*1561T>C (n.*1561T>C) | gnomAD v4 |
19 | g.18869016A>T | CA404862544 | CERS1,GDF1 | c.*969T>A (n.*969T>A) c.700T>A (p.Ser234Thr) c.*1561T>A (n.*1561T>A) | |
19 | g.18869017G>A | CA506118623 | CERS1,GDF1 | c.*968C>T (n.*968C>T) c.699C>T (p.Ala233=) c.*1560C>T (n.*1560C>T) | gnomAD v4 |
19 | g.18869017G>C | CA506118626 | CERS1,GDF1 | c.*968C>G (n.*968C>G) c.699C>G (p.Ala233=) c.*1560C>G (n.*1560C>G) | |
19 | g.18869017G>T | CA506118628 | CERS1,GDF1 | c.*968C>A (n.*968C>A) c.699C>A (p.Ala233=) c.*1560C>A (n.*1560C>A) | gnomAD v4 |
19 | g.18869018G>A | CA404862547 | CERS1,GDF1 | c.*967C>T (n.*967C>T) c.698C>T (p.Ala233Val) c.*1559C>T (n.*1559C>T) | gnomAD v4 |
19 | g.18869018G>C | CA404862548 | CERS1,GDF1 | c.*967C>G (n.*967C>G) c.698C>G (p.Ala233Gly) c.*1559C>G (n.*1559C>G) | |
19 | g.18869018G>T | CA404862549 | CERS1,GDF1 | c.*967C>A (n.*967C>A) c.698C>A (p.Ala233Asp) c.*1559C>A (n.*1559C>A) | gnomAD v4 |
19 | g.18869019C>A | CA404862550 | CERS1,GDF1 | c.*966G>T (n.*966G>T) c.697G>T (p.Ala233Ser) c.*1558G>T (n.*1558G>T) | gnomAD v4 |
19 | g.18869019C>G | CA404862551 | CERS1,GDF1 | c.*966G>C (n.*966G>C) c.697G>C (p.Ala233Pro) c.*1558G>C (n.*1558G>C) | |
19 | g.18869019C>T | CA404862552 | CERS1,GDF1 | c.*966G>A (n.*966G>A) c.697G>A (p.Ala233Thr) c.*1558G>A (n.*1558G>A) | gnomAD v4 |
19 | g.18869020C>A | CA404862553 | CERS1,GDF1 | c.*965G>T (n.*965G>T) c.696G>T (p.Glu232Asp) c.*1557G>T (n.*1557G>T) | gnomAD v4 |
19 | g.18869020C>G | CA404862554 | CERS1,GDF1 | c.*965G>C (n.*965G>C) c.696G>C (p.Glu232Asp) c.*1557G>C (n.*1557G>C) | |
19 | g.18869020C>T | CA506118633 | CERS1,GDF1 | c.*965G>A (n.*965G>A) c.696G>A (p.Glu232=) c.*1557G>A (n.*1557G>A) | gnomAD v4 |
19 | g.18869021T>A | CA404862555 | CERS1,GDF1 | c.*964A>T (n.*964A>T) c.695A>T (p.Glu232Val) c.*1556A>T (n.*1556A>T) | |
19 | g.18869021T>C | CA404862556 | CERS1,GDF1 | c.*964A>G (n.*964A>G) c.695A>G (p.Glu232Gly) c.*1556A>G (n.*1556A>G) | gnomAD v4 |
19 | g.18869021T>G | CA404862557 | CERS1,GDF1 | c.*964A>C (n.*964A>C) c.695A>C (p.Glu232Ala) c.*1556A>C (n.*1556A>C) | |
19 | g.18869022C>A | CA404862558 | CERS1,GDF1 | c.*963G>T (n.*963G>T) c.694G>T (p.Glu232Ter) c.*1555G>T (n.*1555G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869022C= | CA2326567665 | CERS1,GDF1 | c.*963G= (n.*963G=) c.694G= (p.Glu232=) c.*1555G= (n.*1555G=) | |
19 | g.18869022C>G | CA404862559 | CERS1,GDF1 | c.*963G>C (n.*963G>C) c.694G>C (p.Glu232Gln) c.*1555G>C (n.*1555G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18869022C>T | CA404862560 | CERS1,GDF1 | c.*963G>A (n.*963G>A) c.694G>A (p.Glu232Lys) c.*1555G>A (n.*1555G>A) | gnomAD v4 |