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.18868902_18868917dup | CA2583634729 | CERS1,GDF1 | c.*1071_*1086dup (n.*1071_*1086dup) c.802_817dup (p.Tyr273SerfsTer?) c.*1663_*1678dup (n.*1663_*1678dup) | gnomAD v4 |
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.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.18868916C>A | CA404862347 | CERS1,GDF1 | c.*1069G>T (n.*1069G>T) c.800G>T (p.Cys267Phe) c.*1661G>T (n.*1661G>T) | gnomAD v4 |
19 | g.18868916C= | CA2326567613 | CERS1,GDF1 | c.*1069G= (n.*1069G=) c.800G= (p.Cys267=) c.*1661G= (n.*1661G=) | |
19 | g.18868916C>G | CA404862348 | CERS1,GDF1 | c.*1069G>C (n.*1069G>C) c.800G>C (p.Cys267Ser) c.*1661G>C (n.*1661G>C) | |
19 | g.18868916C>T | CA118484 | CERS1,GDF1 | c.*1069G>A (n.*1069G>A) c.800G>A (p.Cys267Tyr) c.*1661G>A (n.*1661G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868917A>C | CA404862349 | CERS1,GDF1 | c.*1068T>G (n.*1068T>G) c.799T>G (p.Cys267Gly) c.*1660T>G (n.*1660T>G) | |
19 | g.18868917A>G | CA404862350 | CERS1,GDF1 | c.*1068T>C (n.*1068T>C) c.799T>C (p.Cys267Arg) c.*1660T>C (n.*1660T>C) | gnomAD v4 |
19 | g.18868917A>T | CA404862351 | CERS1,GDF1 | c.*1068T>A (n.*1068T>A) c.799T>A (p.Cys267Ser) c.*1660T>A (n.*1660T>A) | |
19 | g.18868918A>C | CA506118379 | CERS1,GDF1 | c.*1067T>G (n.*1067T>G) c.798T>G (p.Ala266=) c.*1659T>G (n.*1659T>G) | gnomAD v4 |
19 | g.18868918A>G | CA506118381 | CERS1,GDF1 | c.*1067T>C (n.*1067T>C) c.798T>C (p.Ala266=) c.*1659T>C (n.*1659T>C) | gnomAD v4 |
19 | g.18868918A>T | CA506118383 | CERS1,GDF1 | c.*1067T>A (n.*1067T>A) c.798T>A (p.Ala266=) c.*1659T>A (n.*1659T>A) | |
19 | g.18868919G>A | CA404862352 | CERS1,GDF1 | c.*1066C>T (n.*1066C>T) c.797C>T (p.Ala266Val) c.*1658C>T (n.*1658C>T) | dbSNP gnomAD v4 |
19 | g.18868919G>C | CA404862353 | CERS1,GDF1 | c.*1066C>G (n.*1066C>G) c.797C>G (p.Ala266Gly) c.*1658C>G (n.*1658C>G) | gnomAD v4 |
19 | g.18868919G= | CA2326567614 | CERS1,GDF1 | c.*1066C= (n.*1066C=) c.797C= (p.Ala266=) c.*1658C= (n.*1658C=) | |
19 | g.18868919G>T | CA404862354 | CERS1,GDF1 | c.*1066C>A (n.*1066C>A) c.797C>A (p.Ala266Asp) c.*1658C>A (n.*1658C>A) | gnomAD v4 |
19 | g.18868920C>A | CA404862355 | CERS1,GDF1 | c.*1065G>T (n.*1065G>T) c.796G>T (p.Ala266Ser) c.*1657G>T (n.*1657G>T) | gnomAD v4 |
19 | g.18868920C= | CA2326567615 | CERS1,GDF1 | c.*1065G= (n.*1065G=) c.796G= (p.Ala266=) c.*1657G= (n.*1657G=) | |
19 | g.18868920C>G | CA404862356 | CERS1,GDF1 | c.*1065G>C (n.*1065G>C) c.796G>C (p.Ala266Pro) c.*1657G>C (n.*1657G>C) | gnomAD v4 |
19 | g.18868920C>T | CA9317920 | CERS1,GDF1 | c.*1065G>A (n.*1065G>A) c.796G>A (p.Ala266Thr) c.*1657G>A (n.*1657G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868921del | CA2583634733 | CERS1,GDF1 | c.*1064del (n.*1064del) c.795del (p.Ala266LeufsTer9) c.*1656del (n.*1656del) | gnomAD v4 |
19 | g.18868921G>A | CA506118393 | CERS1,GDF1 | c.*1064C>T (n.*1064C>T) c.795C>T (p.Gly265=) c.*1656C>T (n.*1656C>T) | gnomAD v4 |
19 | g.18868921G>C | CA506118396 | CERS1,GDF1 | c.*1064C>G (n.*1064C>G) c.795C>G (p.Gly265=) c.*1656C>G (n.*1656C>G) | gnomAD v4 |
19 | g.18868921G= | CA2326567616 | CERS1,GDF1 | c.*1064C= (n.*1064C=) c.795C= (p.Gly265=) c.*1656C= (n.*1656C=) | |
19 | g.18868921G>T | CA506118400 | CERS1,GDF1 | c.*1064C>A (n.*1064C>A) c.795C>A (p.Gly265=) c.*1656C>A (n.*1656C>A) | 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 |