Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.99851544C>A | CA378130719 | ABCC2 | c.4551C>A (p.Ser1517Arg) c.621C>A c.3855C>A (p.Ser1285Arg) | |
10 | g.99851544C>G | CA378130722 | ABCC2 | c.4551C>G (p.Ser1517Arg) c.621C>G c.3855C>G (p.Ser1285Arg) | |
10 | g.99851544C>T | CA471136055 | ABCC2 | c.4551C>T (p.Ser1517=) c.621C>T c.3855C>T (p.Ser1285=) | dbSNP |
10 | g.99851545C>A | CA378130725 | ABCC2 | c.4552C>A (p.Pro1518Thr) c.622C>A c.3856C>A (p.Pro1286Thr) | |
10 | g.99851545C>G | CA378130727 | ABCC2 | c.4552C>G (p.Pro1518Ala) c.622C>G c.3856C>G (p.Pro1286Ala) | gnomAD v4 |
10 | g.99851545C>T | CA378130728 | ABCC2 | c.4552C>T (p.Pro1518Ser) c.622C>T c.3856C>T (p.Pro1286Ser) | gnomAD v4 |
10 | g.99851546C>A | CA378130730 | ABCC2 | c.4553C>A (p.Pro1518His) c.623C>A c.3857C>A (p.Pro1286His) | |
10 | g.99851546C= | CA1931484673 | ABCC2 | c.4553C= (p.Pro1518=) c.623C= c.3857C= (p.Pro1286=) | |
10 | g.99851546C>G | CA5644187 | ABCC2 | c.4553C>G (p.Pro1518Arg) c.623C>G c.3857C>G (p.Pro1286Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.99851546C>T | CA378130734 | ABCC2 | c.4553C>T (p.Pro1518Leu) c.623C>T c.3857C>T (p.Pro1286Leu) | |
10 | g.99851547T>A | CA471136058 | ABCC2 | c.4554T>A (p.Pro1518=) c.624T>A c.3858T>A (p.Pro1286=) | |
10 | g.99851547T>C | CA471136057 | ABCC2 | c.4554T>C (p.Pro1518=) c.624T>C c.3858T>C (p.Pro1286=) | |
10 | g.99851547T>G | CA471136056 | ABCC2 | c.4554T>G (p.Pro1518=) c.624T>G c.3858T>G (p.Pro1286=) | |
10 | g.99851548G>A | CA378130737 | ABCC2 | c.4555G>A (p.Glu1519Lys) c.625G>A c.3859G>A (p.Glu1287Lys) | ClinVar dbSNP |
10 | g.99851548G>C | CA378130741 | ABCC2 | c.4555G>C (p.Glu1519Gln) c.625G>C c.3859G>C (p.Glu1287Gln) | |
10 | g.99851548G= | CA1931484683 | ABCC2 | c.4555G= (p.Glu1519=) c.625G= c.3859G= (p.Glu1287=) | |
10 | g.99851548G>T | CA378130739 | ABCC2 | c.4555G>T (p.Glu1519Ter) c.625G>T c.3859G>T (p.Glu1287Ter) | |
10 | g.99851549A>C | CA378130743 | ABCC2 | c.4556A>C (p.Glu1519Ala) c.626A>C c.3860A>C (p.Glu1287Ala) | |
10 | g.99851549A>G | CA378130746 | ABCC2 | c.4556A>G (p.Glu1519Gly) c.626A>G c.3860A>G (p.Glu1287Gly) | gnomAD v4 |
10 | g.99851549A>T | CA378130745 | ABCC2 | c.4556A>T (p.Glu1519Val) c.626A>T c.3860A>T (p.Glu1287Val) | |
10 | g.99851550A= | CA1931484698 | ABCC2 | c.4557A= (p.Glu1519=) c.627A= c.3861A= (p.Glu1287=) | |
10 | g.99851550A>C | CA5644188 | ABCC2 | c.4557A>C (p.Glu1519Asp) c.627A>C c.3861A>C (p.Glu1287Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.99851550A>G | CA471136059 | ABCC2 | c.4557A>G (p.Glu1519=) c.627A>G c.3861A>G (p.Glu1287=) | |
10 | g.99851550A>T | CA378130749 | ABCC2 | c.4557A>T (p.Glu1519Asp) c.627A>T c.3861A>T (p.Glu1287Asp) | |
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) |