| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44254516G>A | CA500285325 | SLC4A1 | c.2037C>T (p.Phe679=) c.939C>T (p.Phe313=) c.1842C>T (p.Phe614=) c.1947C>T (p.Phe649=) | |
| 17 | g.44254516G>C | CA399782609 | SLC4A1 | c.2037C>G (p.Phe679Leu) c.939C>G (p.Phe313Leu) c.1842C>G (p.Phe614Leu) c.1947C>G (p.Phe649Leu) | |
| 17 | g.44254516G>T | CA399782611 | SLC4A1 | c.2037C>A (p.Phe679Leu) c.939C>A (p.Phe313Leu) c.1842C>A (p.Phe614Leu) c.1947C>A (p.Phe649Leu) | |
| 17 | g.44254517A= | CA2261308255 | SLC4A1 | c.2036T= (p.Phe679=) c.938T= (p.Phe313=) c.1841T= (p.Phe614=) c.1946T= (p.Phe649=) | |
| 17 | g.44254517A>C | CA399782614 | SLC4A1 | c.2036T>G (p.Phe679Cys) c.938T>G (p.Phe313Cys) c.1841T>G (p.Phe614Cys) c.1946T>G (p.Phe649Cys) | dbSNP gnomAD v4 |
| 17 | g.44254517A>G | CA399782616 | SLC4A1 | c.2036T>C (p.Phe679Ser) c.938T>C (p.Phe313Ser) c.1841T>C (p.Phe614Ser) c.1946T>C (p.Phe649Ser) | |
| 17 | g.44254517A>T | CA399782618 | SLC4A1 | c.2036T>A (p.Phe679Tyr) c.938T>A (p.Phe313Tyr) c.1841T>A (p.Phe614Tyr) c.1946T>A (p.Phe649Tyr) | |
| 17 | g.44254518A= | CA2261308256 | SLC4A1 | c.2035T= (p.Phe679=) c.937T= (p.Phe313=) c.1840T= (p.Phe614=) c.1945T= (p.Phe649=) | |
| 17 | g.44254518A>C | CA399782620 | SLC4A1 | c.2035T>G (p.Phe679Val) c.937T>G (p.Phe313Val) c.1840T>G (p.Phe614Val) c.1945T>G (p.Phe649Val) | |
| 17 | g.44254518A>G | CA8600145 | SLC4A1 | c.2035T>C (p.Phe679Leu) c.937T>C (p.Phe313Leu) c.1840T>C (p.Phe614Leu) c.1945T>C (p.Phe649Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254518A>T | CA399782624 | SLC4A1 | c.2035T>A (p.Phe679Ile) c.937T>A (p.Phe313Ile) c.1840T>A (p.Phe614Ile) c.1945T>A (p.Phe649Ile) | |
| 17 | g.44254519T>A | CA500285330 | SLC4A1 | c.2034A>T (p.Ile678=) c.936A>T (p.Ile312=) c.1839A>T (p.Ile613=) c.1944A>T (p.Ile648=) | |
| 17 | g.44254519T>C | CA399782625 | SLC4A1 | c.2034A>G (p.Ile678Met) c.936A>G (p.Ile312Met) c.1839A>G (p.Ile613Met) c.1944A>G (p.Ile648Met) | |
| 17 | g.44254519T>G | CA500285333 | SLC4A1 | c.2034A>C (p.Ile678=) c.936A>C (p.Ile312=) c.1839A>C (p.Ile613=) c.1944A>C (p.Ile648=) | |
| 17 | g.44254520A= | CA2261308257 | SLC4A1 | c.2033T= (p.Ile678=) c.935T= (p.Ile312=) c.1838T= (p.Ile613=) c.1943T= (p.Ile648=) | |
| 17 | g.44254520A>C | CA399782629 | SLC4A1 | c.2033T>G (p.Ile678Arg) c.935T>G (p.Ile312Arg) c.1838T>G (p.Ile613Arg) c.1943T>G (p.Ile648Arg) | |
| 17 | g.44254520A>G | CA399782628 | SLC4A1 | c.2033T>C (p.Ile678Thr) c.935T>C (p.Ile312Thr) c.1838T>C (p.Ile613Thr) c.1943T>C (p.Ile648Thr) | dbSNP gnomAD v4 |
| 17 | g.44254520A>T | CA399782627 | SLC4A1 | c.2033T>A (p.Ile678Lys) c.935T>A (p.Ile312Lys) c.1838T>A (p.Ile613Lys) c.1943T>A (p.Ile648Lys) | |
| 17 | g.44254521T>A | CA399782630 | SLC4A1 | c.2032A>T (p.Ile678Leu) c.934A>T (p.Ile312Leu) c.1837A>T (p.Ile613Leu) c.1942A>T (p.Ile648Leu) | |
| 17 | g.44254521T>C | CA399782631 | SLC4A1 | c.2032A>G (p.Ile678Val) c.934A>G (p.Ile312Val) c.1837A>G (p.Ile613Val) c.1942A>G (p.Ile648Val) | gnomAD v4 |
| 17 | g.44254521T>G | CA399782633 | SLC4A1 | c.2032A>C (p.Ile678Leu) c.934A>C (p.Ile312Leu) c.1837A>C (p.Ile613Leu) c.1942A>C (p.Ile648Leu) | gnomAD v4 |
| 17 | g.44254522G>A | CA500285338 | SLC4A1 | c.2031C>T (p.Leu677=) c.933C>T (p.Leu311=) c.1836C>T (p.Leu612=) c.1941C>T (p.Leu647=) | COSMIC |
| 17 | g.44254522G>C | CA500285339 | SLC4A1 | c.2031C>G (p.Leu677=) c.933C>G (p.Leu311=) c.1836C>G (p.Leu612=) c.1941C>G (p.Leu647=) | |
| 17 | g.44254522G>T | CA500285340 | SLC4A1 | c.2031C>A (p.Leu677=) c.933C>A (p.Leu311=) c.1836C>A (p.Leu612=) c.1941C>A (p.Leu647=) | |
| 17 | g.44254523A>C | CA399782634 | SLC4A1 | c.2030T>G (p.Leu677Arg) c.932T>G (p.Leu311Arg) c.1835T>G (p.Leu612Arg) c.1940T>G (p.Leu647Arg) | |
| 17 | g.44254523A>G | CA399782635 | SLC4A1 | c.2030T>C (p.Leu677Pro) c.932T>C (p.Leu311Pro) c.1835T>C (p.Leu612Pro) c.1940T>C (p.Leu647Pro) | |
| 17 | g.44254523A>T | CA399782636 | SLC4A1 | c.2030T>A (p.Leu677His) c.932T>A (p.Leu311His) c.1835T>A (p.Leu612His) c.1940T>A (p.Leu647His) | |
| 17 | g.44254524G>A | CA8600146 | SLC4A1 | c.2029C>T (p.Leu677Phe) c.931C>T (p.Leu311Phe) c.1834C>T (p.Leu612Phe) c.1939C>T (p.Leu647Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44254524G>C | CA399782637 | SLC4A1 | c.2029C>G (p.Leu677Val) c.931C>G (p.Leu311Val) c.1834C>G (p.Leu612Val) c.1939C>G (p.Leu647Val) | |
| 17 | g.44254524G= | CA2261308258 | SLC4A1 | c.2029C= (p.Leu677=) c.931C= (p.Leu311=) c.1834C= (p.Leu612=) c.1939C= (p.Leu647=) | |
| 17 | g.44254524G>T | CA399782638 | SLC4A1 | c.2029C>A (p.Leu677Ile) c.931C>A (p.Leu311Ile) c.1834C>A (p.Leu612Ile) c.1939C>A (p.Leu647Ile) | |
| 17 | g.44254525G>A | CA500285343 | SLC4A1 | c.2028C>T (p.Ile676=) c.930C>T (p.Ile310=) c.1833C>T (p.Ile611=) c.1938C>T (p.Ile646=) | |
| 17 | g.44254525G>C | CA399782640 | SLC4A1 | c.2028C>G (p.Ile676Met) c.930C>G (p.Ile310Met) c.1833C>G (p.Ile611Met) c.1938C>G (p.Ile646Met) | |
| 17 | g.44254525G>T | CA500285348 | SLC4A1 | c.2028C>A (p.Ile676=) c.930C>A (p.Ile310=) c.1833C>A (p.Ile611=) c.1938C>A (p.Ile646=) | |
| 17 | g.44254526A>C | CA399782641 | SLC4A1 | c.2027T>G (p.Ile676Ser) c.929T>G (p.Ile310Ser) c.1832T>G (p.Ile611Ser) c.1937T>G (p.Ile646Ser) | |
| 17 | g.44254526A>G | CA399782642 | SLC4A1 | c.2027T>C (p.Ile676Thr) c.929T>C (p.Ile310Thr) c.1832T>C (p.Ile611Thr) c.1937T>C (p.Ile646Thr) | |
| 17 | g.44254526A>T | CA399782643 | SLC4A1 | c.2027T>A (p.Ile676Asn) c.929T>A (p.Ile310Asn) c.1832T>A (p.Ile611Asn) c.1937T>A (p.Ile646Asn) | |
| 17 | g.44254527T>A | CA399782646 | SLC4A1 | c.2026A>T (p.Ile676Phe) c.928A>T (p.Ile310Phe) c.1831A>T (p.Ile611Phe) c.1936A>T (p.Ile646Phe) | |
| 17 | g.44254527T>C | CA399782645 | SLC4A1 | c.2026A>G (p.Ile676Val) c.928A>G (p.Ile310Val) c.1831A>G (p.Ile611Val) c.1936A>G (p.Ile646Val) | |
| 17 | g.44254527T>G | CA399782644 | SLC4A1 | c.2026A>C (p.Ile676Leu) c.928A>C (p.Ile310Leu) c.1831A>C (p.Ile611Leu) c.1936A>C (p.Ile646Leu) | |
| 17 | g.44254527dup | CA2697559954 | SLC4A1 | c.2026dup (p.Ile676AsnfsTer18) c.928dup (p.Ile310AsnfsTer18) c.1831dup (p.Ile611AsnfsTer18) c.1936dup (p.Ile646AsnfsTer18) c.2026dup (p.Ile676AsnfsTer?) | ClinVar |
| 17 | g.44254528G>A | CA500285355 | SLC4A1 | c.2025C>T (p.Phe675=) c.927C>T (p.Phe309=) c.1830C>T (p.Phe610=) c.1935C>T (p.Phe645=) | |
| 17 | g.44254528G>C | CA399782647 | SLC4A1 | c.2025C>G (p.Phe675Leu) c.927C>G (p.Phe309Leu) c.1830C>G (p.Phe610Leu) c.1935C>G (p.Phe645Leu) | |
| 17 | g.44254528G>T | CA399782648 | SLC4A1 | c.2025C>A (p.Phe675Leu) c.927C>A (p.Phe309Leu) c.1830C>A (p.Phe610Leu) c.1935C>A (p.Phe645Leu) | |
| 17 | g.44254529A>C | CA399782650 | SLC4A1 | c.2024T>G (p.Phe675Cys) c.926T>G (p.Phe309Cys) c.1829T>G (p.Phe610Cys) c.1934T>G (p.Phe645Cys) | |
| 17 | g.44254529A>G | CA399782652 | SLC4A1 | c.2024T>C (p.Phe675Ser) c.926T>C (p.Phe309Ser) c.1829T>C (p.Phe610Ser) c.1934T>C (p.Phe645Ser) | |
| 17 | g.44254529A>T | CA399782653 | SLC4A1 | c.2024T>A (p.Phe675Tyr) c.926T>A (p.Phe309Tyr) c.1829T>A (p.Phe610Tyr) c.1934T>A (p.Phe645Tyr) | |
| 17 | g.44254530A>C | CA399782654 | SLC4A1 | c.2023T>G (p.Phe675Val) c.925T>G (p.Phe309Val) c.1828T>G (p.Phe610Val) c.1933T>G (p.Phe645Val) | |
| 17 | g.44254530A>G | CA399782655 | SLC4A1 | c.2023T>C (p.Phe675Leu) c.925T>C (p.Phe309Leu) c.1828T>C (p.Phe610Leu) c.1933T>C (p.Phe645Leu) | |
| 17 | g.44254530A>T | CA399782656 | SLC4A1 | c.2023T>A (p.Phe675Ile) c.925T>A (p.Phe309Ile) c.1828T>A (p.Phe610Ile) c.1933T>A (p.Phe645Ile) |