Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.99851551G>A | CA212872977 | ABCC2 | c.4558G>A (p.Glu1520Lys) c.628G>A c.3862G>A (p.Glu1288Lys) | dbSNP |
10 | g.99851551G>C | CA378130750 | ABCC2 | c.4558G>C (p.Glu1520Gln) c.628G>C c.3862G>C (p.Glu1288Gln) | |
10 | g.99851551G= | CA1931484705 | ABCC2 | c.4558G= (p.Glu1520=) c.628G= c.3862G= (p.Glu1288=) | |
10 | g.99851551G>T | CA378130752 | ABCC2 | c.4558G>T (p.Glu1520Ter) c.628G>T c.3862G>T (p.Glu1288Ter) | |
10 | g.99851552A>C | CA378130755 | ABCC2 | c.4559A>C (p.Glu1520Ala) c.629A>C c.3863A>C (p.Glu1288Ala) | |
10 | g.99851552A>G | CA378130756 | ABCC2 | c.4559A>G (p.Glu1520Gly) c.629A>G c.3863A>G (p.Glu1288Gly) | |
10 | g.99851552A>T | CA378130759 | ABCC2 | c.4559A>T (p.Glu1520Val) c.629A>T c.3863A>T (p.Glu1288Val) | |
10 | g.99851553A>C | CA378130761 | ABCC2 | c.4560A>C (p.Glu1520Asp) c.630A>C c.3864A>C (p.Glu1288Asp) | gnomAD v4 |
10 | g.99851553A>G | CA471136060 | ABCC2 | c.4560A>G (p.Glu1520=) c.630A>G c.3864A>G (p.Glu1288=) | |
10 | g.99851553A>T | CA378130763 | ABCC2 | c.4560A>T (p.Glu1520Asp) c.630A>T c.3864A>T (p.Glu1288Asp) | |
10 | g.99851553_99851554delinsAC | CA1931484712 | ABCC2 | c.4560_4561delinsAC (p.Glu1520=) c.630_631delinsAC c.3864_3865delinsAC (p.Glu1288=) | |
10 | g.99851553_99851556delinsACTG | CA1931484711 | ABCC2 | c.4560_4563delinsACTG (p.Glu1520=) c.630_633delinsACTG c.3864_3867delinsACTG (p.Glu1288=) | |
10 | g.99851554del | CA658797522 | ABCC2 | c.4561del (p.Leu1521CysfsTer20) c.631del c.3865del (p.Leu1289CysfsTer20) | ClinVar dbSNP |
10 | g.99851554C>A | CA378130765 | ABCC2 | c.4561C>A (p.Leu1521Met) c.631C>A c.3865C>A (p.Leu1289Met) | |
10 | g.99851554C>G | CA378130767 | ABCC2 | c.4561C>G (p.Leu1521Val) c.631C>G c.3865C>G (p.Leu1289Val) | |
10 | g.99851554C>T | CA471136061 | ABCC2 | c.4561C>T (p.Leu1521=) c.631C>T c.3865C>T (p.Leu1289=) | |
10 | g.99851556_99851558del | CA595453942 | ABCC2 | c.4563_4565del (p.Leu1522del) c.633_635del c.3867_3869del (p.Leu1290del) | dbSNP gnomAD v2 |
10 | g.99851555T>A | CA378130769 | ABCC2 | c.4562T>A (p.Leu1521Gln) c.632T>A c.3866T>A (p.Leu1289Gln) | |
10 | g.99851555T>C | CA378130772 | ABCC2 | c.4562T>C (p.Leu1521Pro) c.632T>C c.3866T>C (p.Leu1289Pro) | |
10 | g.99851555T>G | CA5644189 | ABCC2 | c.4562T>G (p.Leu1521Arg) c.632T>G c.3866T>G (p.Leu1289Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.99851555T= | CA1931484727 | ABCC2 | c.4562T= (p.Leu1521=) c.632T= c.3866T= (p.Leu1289=) | |
10 | g.99851556G>A | CA471136062 | ABCC2 | c.4563G>A (p.Leu1521=) c.633G>A c.3867G>A (p.Leu1289=) | |
10 | g.99851556G>C | CA471136063 | ABCC2 | c.4563G>C (p.Leu1521=) c.633G>C c.3867G>C (p.Leu1289=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.99851556G= | CA1931484734 | ABCC2 | c.4563G= (p.Leu1521=) c.633G= c.3867G= (p.Leu1289=) | |
10 | g.99851556G>T | CA471136064 | ABCC2 | c.4563G>T (p.Leu1521=) c.633G>T c.3867G>T (p.Leu1289=) | gnomAD v4 |
10 | g.99851557C>A | CA378130774 | ABCC2 | c.4564C>A (p.Leu1522Ile) c.634C>A c.3868C>A (p.Leu1290Ile) | |
10 | g.99851557C>G | CA378130775 | ABCC2 | c.4564C>G (p.Leu1522Val) c.634C>G c.3868C>G (p.Leu1290Val) | |
10 | g.99851557C>T | CA471136065 | ABCC2 | c.4564C>T (p.Leu1522=) c.634C>T c.3868C>T (p.Leu1290=) | |
10 | g.99851558T>A | CA378130777 | ABCC2 | c.4565T>A (p.Leu1522Gln) c.635T>A c.3869T>A (p.Leu1290Gln) | gnomAD v4 |
10 | g.99851558T>C | CA5644190 | ABCC2 | c.4565T>C (p.Leu1522Pro) c.635T>C c.3869T>C (p.Leu1290Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.99851558T>G | CA378130780 | ABCC2 | c.4565T>G (p.Leu1522Arg) c.635T>G c.3869T>G (p.Leu1290Arg) | |
10 | g.99851558T= | CA1931484740 | ABCC2 | c.4565T= (p.Leu1522=) c.635T= c.3869T= (p.Leu1290=) | |
10 | g.99851559del | CA2610498398 | ABCC2 | c.4566del (p.Gln1523LysfsTer18) c.636del c.3870del (p.Gln1291LysfsTer18) | gnomAD v4 |
10 | g.99851559A= | CA1931484743 | ABCC2 | c.4566A= (p.Leu1522=) c.636A= c.3870A= (p.Leu1290=) | |
10 | g.99851559A>C | CA471136066 | ABCC2 | c.4566A>C (p.Leu1522=) c.636A>C c.3870A>C (p.Leu1290=) | ClinVar dbSNP |
10 | g.99851559A>G | CA5644191 | ABCC2 | c.4566A>G (p.Leu1522=) c.636A>G c.3870A>G (p.Leu1290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.99851559A>T | CA471136067 | ABCC2 | c.4566A>T (p.Leu1522=) c.636A>T c.3870A>T (p.Leu1290=) | |
10 | g.99851560C>A | CA378130782 | ABCC2 | c.4567C>A (p.Gln1523Lys) c.637C>A c.3871C>A (p.Gln1291Lys) | |
10 | g.99851560C= | CA1931484753 | ABCC2 | c.4567C= (p.Gln1523=) c.637C= c.3871C= (p.Gln1291=) | |
10 | g.99851560C>G | CA378130785 | ABCC2 | c.4567C>G (p.Gln1523Glu) c.637C>G c.3871C>G (p.Gln1291Glu) | |
10 | g.99851560C>T | CA378130786 | ABCC2 | c.4567C>T (p.Gln1523Ter) c.637C>T c.3871C>T (p.Gln1291Ter) | |
10 | g.99851561A= | CA1931484765 | ABCC2 | c.4568A= (p.Gln1523=) c.638A= c.3872A= (p.Gln1291=) | |
10 | g.99851561A>C | CA5644192 | ABCC2 | c.4568A>C (p.Gln1523Pro) c.638A>C c.3872A>C (p.Gln1291Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.99851561A>G | CA378130792 | ABCC2 | c.4568A>G (p.Gln1523Arg) c.638A>G c.3872A>G (p.Gln1291Arg) | |
10 | g.99851561A>T | CA378130789 | ABCC2 | c.4568A>T (p.Gln1523Leu) c.638A>T c.3872A>T (p.Gln1291Leu) | gnomAD v4 COSMIC |
10 | g.99851561_99851562insTTTGTA | CA1931484761 | ABCC2 | c.4568_4569insTTTGTA (p.Gln1523HisfsTer3) c.638_639insTTTGTA c.3872_3873insTTTGTA (p.Gln1291HisfsTer3) | dbSNP |
10 | g.99851563_99851564insGCAGTGAAAA | CA2722455281 | ABCC2 | c.4570_4571insGCAGTGAAAA (p.Ile1524SerfsTer13) c.640_641insGCAGTGAAAA c.3874_3875insGCAGTGAAAA (p.Ile1292SerfsTer13) | dbSNP |
10 | g.99851561_99851562insTTTGT | CA595453943 | ABCC2 | c.4568_4569insTTTGT (p.Gln1523HisfsTer3) c.638_639insTTTGT c.3872_3873insTTTGT (p.Gln1291HisfsTer3) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.99851562A>C | CA378130794 | ABCC2 | c.4569A>C (p.Gln1523His) c.639A>C c.3873A>C (p.Gln1291His) | |
10 | g.99851562A>G | CA471136068 | ABCC2 | c.4569A>G (p.Gln1523=) c.639A>G c.3873A>G (p.Gln1291=) |