Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.112913922_112913925delinsCCAT | CA1189548316 | SLC16A1 | c.1469_1472delinsATGG (p.Asp490=) | |
1 | g.112913924_112913926del | CA1011239 | SLC16A1 | c.1469_1471del (p.Asp490del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.112913924A= | CA1139849136 | SLC16A1 | c.1470T= (p.Asp490=) | |
1 | g.112913924A>C | CA341826703 | SLC16A1 | c.1470T>G (p.Asp490Glu) | |
1 | g.112913924A>G | CA419708004 | SLC16A1 | c.1470T>C (p.Asp490=) | dbSNP |
1 | g.112913924A>T | CA155208 | SLC16A1 | c.1470T>A (p.Asp490Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.112913925T>A | CA341826704 | SLC16A1 | c.1469A>T (p.Asp490Val) | |
1 | g.112913925T>C | CA341826705 | SLC16A1 | c.1469A>G (p.Asp490Gly) | |
1 | g.112913925T>G | CA341826706 | SLC16A1 | c.1469A>C (p.Asp490Ala) | |
1 | g.112913926C>A | CA341826707 | SLC16A1 | c.1468G>T (p.Asp490Tyr) | |
1 | g.112913926C>G | CA341826708 | SLC16A1 | c.1468G>C (p.Asp490His) | |
1 | g.112913926C>T | CA341826709 | SLC16A1 | c.1468G>A (p.Asp490Asn) | dbSNP |
1 | g.112913927T>A | CA419708007 | SLC16A1 | c.1467A>T (p.Thr489=) | |
1 | g.112913927T>C | CA419708008 | SLC16A1 | c.1467A>G (p.Thr489=) | dbSNP |
1 | g.112913927T>G | CA419708009 | SLC16A1 | c.1467A>C (p.Thr489=) | |
1 | g.112913930_112913931del | CA2504103734 | SLC16A1 | c.1466_1467del (p.Thr489ArgfsTer17) | |
1 | g.112913928G>A | CA341826710 | SLC16A1 | c.1466C>T (p.Thr489Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.112913928G>C | CA341826711 | SLC16A1 | c.1466C>G (p.Thr489Arg) | |
1 | g.112913928G= | CA1189548318 | SLC16A1 | c.1466C= (p.Thr489=) | |
1 | g.112913928G>T | CA341826712 | SLC16A1 | c.1466C>A (p.Thr489Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.112913929T>A | CA341826713 | SLC16A1 | c.1465A>T (p.Thr489Ser) | |
1 | g.112913929T>C | CA341826715 | SLC16A1 | c.1465A>G (p.Thr489Ala) | gnomAD v4 |
1 | g.112913929T>G | CA341826714 | SLC16A1 | c.1465A>C (p.Thr489Pro) | |
1 | g.112913930G>A | CA419708012 | SLC16A1 | c.1464C>T (p.Asp488=) | gnomAD v4 |
1 | g.112913930G>C | CA341826716 | SLC16A1 | c.1464C>G (p.Asp488Glu) | |
1 | g.112913930G>T | CA341826717 | SLC16A1 | c.1464C>A (p.Asp488Glu) | |
1 | g.112913931T>A | CA341826718 | SLC16A1 | c.1463A>T (p.Asp488Val) | |
1 | g.112913931T>C | CA341826719 | SLC16A1 | c.1463A>G (p.Asp488Gly) | gnomAD v4 |
1 | g.112913931T>G | CA341826720 | SLC16A1 | c.1463A>C (p.Asp488Ala) | |
1 | g.112913932C>A | CA341826721 | SLC16A1 | c.1462G>T (p.Asp488Tyr) | |
1 | g.112913932C>G | CA341826722 | SLC16A1 | c.1462G>C (p.Asp488His) | |
1 | g.112913932C>T | CA341826723 | SLC16A1 | c.1462G>A (p.Asp488Asn) | |
1 | g.112913933T>A | CA341826724 | SLC16A1 | c.1461A>T (p.Lys487Asn) | |
1 | g.112913933T>C | CA419708013 | SLC16A1 | c.1461A>G (p.Lys487=) | dbSNP gnomAD v4 |
1 | g.112913933T>G | CA341826725 | SLC16A1 | c.1461A>C (p.Lys487Asn) | |
1 | g.112913933T= | CA1189548319 | SLC16A1 | c.1461A= (p.Lys487=) | |
1 | g.112913934T>A | CA341826728 | SLC16A1 | c.1460A>T (p.Lys487Ile) | |
1 | g.112913934T>C | CA341826727 | SLC16A1 | c.1460A>G (p.Lys487Arg) | |
1 | g.112913934T>G | CA341826726 | SLC16A1 | c.1460A>C (p.Lys487Thr) | |
1 | g.112913935T>A | CA341826731 | SLC16A1 | c.1459A>T (p.Lys487Ter) | |
1 | g.112913935T>C | CA341826729 | SLC16A1 | c.1459A>G (p.Lys487Glu) | |
1 | g.112913935T>G | CA341826730 | SLC16A1 | c.1459A>C (p.Lys487Gln) | |
1 | g.112913936C>A | CA341826732 | SLC16A1 | c.1458G>T (p.Gln486His) | |
1 | g.112913936C>G | CA341826733 | SLC16A1 | c.1458G>C (p.Gln486His) | |
1 | g.112913936C>T | CA419708015 | SLC16A1 | c.1458G>A (p.Gln486=) | |
1 | g.112913937T>A | CA341826734 | SLC16A1 | c.1457A>T (p.Gln486Leu) | |
1 | g.112913937T>C | CA341826735 | SLC16A1 | c.1457A>G (p.Gln486Arg) | gnomAD v4 |
1 | g.112913937T>G | CA341826736 | SLC16A1 | c.1457A>C (p.Gln486Pro) | |
1 | g.112913937dup | CA1005896138 | SLC16A1 | c.1457dup (p.Lys487GlufsTer20) | gnomAD v3 gnomAD v4 |
1 | g.112913938G>A | CA341826737 | SLC16A1 | c.1456C>T (p.Gln486Ter) | gnomAD v4 |