| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44254616del | CA2638191307 | SLC4A1 | c.1940del (p.Gly647AlafsTer17) c.842del (p.Gly281AlafsTer17) c.1745del (p.Gly582AlafsTer17) c.1850del (p.Gly617AlafsTer17) | gnomAD v4 |
| 17 | g.44254616C>A | CA399783302 | SLC4A1 | c.1937G>T (p.Arg646Leu) c.839G>T (p.Arg280Leu) c.1742G>T (p.Arg581Leu) c.1847G>T (p.Arg616Leu) | |
| 17 | g.44254616C= | CA2261308290 | SLC4A1 | c.1937G= (p.Arg646=) c.839G= (p.Arg280=) c.1742G= (p.Arg581=) c.1847G= (p.Arg616=) | |
| 17 | g.44254616C>G | CA399783305 | SLC4A1 | c.1937G>C (p.Arg646Pro) c.839G>C (p.Arg280Pro) c.1742G>C (p.Arg581Pro) c.1847G>C (p.Arg616Pro) | gnomAD v4 |
| 17 | g.44254616C>T | CA127408 | SLC4A1 | c.1937G>A (p.Arg646Gln) c.839G>A (p.Arg280Gln) c.1742G>A (p.Arg581Gln) c.1847G>A (p.Arg616Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254617G>A | CA127400 | SLC4A1 | c.1936C>T (p.Arg646Trp) c.838C>T (p.Arg280Trp) c.1741C>T (p.Arg581Trp) c.1846C>T (p.Arg616Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254617G>C | CA399783310 | SLC4A1 | c.1936C>G (p.Arg646Gly) c.838C>G (p.Arg280Gly) c.1741C>G (p.Arg581Gly) c.1846C>G (p.Arg616Gly) | gnomAD v3 gnomAD v4 |
| 17 | g.44254617G= | CA2261308291 | SLC4A1 | c.1936C= (p.Arg646=) c.838C= (p.Arg280=) c.1741C= (p.Arg581=) c.1846C= (p.Arg616=) | |
| 17 | g.44254617G>T | CA290928566 | SLC4A1 | c.1936C>A (p.Arg646=) c.838C>A (p.Arg280=) c.1741C>A (p.Arg581=) c.1846C>A (p.Arg616=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44254618G>A | CA500285735 | SLC4A1 | c.1935C>T (p.Ala645=) c.837C>T (p.Ala279=) c.1740C>T (p.Ala580=) c.1845C>T (p.Ala615=) | |
| 17 | g.44254618G>C | CA8600163 | SLC4A1 | c.1935C>G (p.Ala645=) c.837C>G (p.Ala279=) c.1740C>G (p.Ala580=) c.1845C>G (p.Ala615=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44254618G= | CA2261308292 | SLC4A1 | c.1935C= (p.Ala645=) c.837C= (p.Ala279=) c.1740C= (p.Ala580=) c.1845C= (p.Ala615=) | |
| 17 | g.44254618G>T | CA500285732 | SLC4A1 | c.1935C>A (p.Ala645=) c.837C>A (p.Ala279=) c.1740C>A (p.Ala580=) c.1845C>A (p.Ala615=) | |
| 17 | g.44254619G>A | CA399783321 | SLC4A1 | c.1934C>T (p.Ala645Val) c.836C>T (p.Ala279Val) c.1739C>T (p.Ala580Val) c.1844C>T (p.Ala615Val) | |
| 17 | g.44254619G>C | CA399783324 | SLC4A1 | c.1934C>G (p.Ala645Gly) c.836C>G (p.Ala279Gly) c.1739C>G (p.Ala580Gly) c.1844C>G (p.Ala615Gly) | |
| 17 | g.44254619G>T | CA399783331 | SLC4A1 | c.1934C>A (p.Ala645Asp) c.836C>A (p.Ala279Asp) c.1739C>A (p.Ala580Asp) c.1844C>A (p.Ala615Asp) | |
| 17 | g.44254620C>A | CA399783334 | SLC4A1 | c.1933G>T (p.Ala645Ser) c.835G>T (p.Ala279Ser) c.1738G>T (p.Ala580Ser) c.1843G>T (p.Ala615Ser) | |
| 17 | g.44254620C>G | CA399783349 | SLC4A1 | c.1933G>C (p.Ala645Pro) c.835G>C (p.Ala279Pro) c.1738G>C (p.Ala580Pro) c.1843G>C (p.Ala615Pro) | |
| 17 | g.44254620C>T | CA399783352 | SLC4A1 | c.1933G>A (p.Ala645Thr) c.835G>A (p.Ala279Thr) c.1738G>A (p.Ala580Thr) c.1843G>A (p.Ala615Thr) | |
| 17 | g.44254621T>A | CA500285746 | SLC4A1 | c.1932A>T (p.Ser644=) c.834A>T (p.Ser278=) c.1737A>T (p.Ser579=) c.1842A>T (p.Ser614=) | |
| 17 | g.44254621T>C | CA500285749 | SLC4A1 | c.1932A>G (p.Ser644=) c.834A>G (p.Ser278=) c.1737A>G (p.Ser579=) c.1842A>G (p.Ser614=) | |
| 17 | g.44254621T>G | CA500285748 | SLC4A1 | c.1932A>C (p.Ser644=) c.834A>C (p.Ser278=) c.1737A>C (p.Ser579=) c.1842A>C (p.Ser614=) | |
| 17 | g.44254622G>A | CA399783356 | SLC4A1 | c.1931C>T (p.Ser644Leu) c.833C>T (p.Ser278Leu) c.1736C>T (p.Ser579Leu) c.1841C>T (p.Ser614Leu) | |
| 17 | g.44254622G>C | CA399783358 | SLC4A1 | c.1931C>G (p.Ser644Ter) c.833C>G (p.Ser278Ter) c.1736C>G (p.Ser579Ter) c.1841C>G (p.Ser614Ter) | |
| 17 | g.44254622G>T | CA399783361 | SLC4A1 | c.1931C>A (p.Ser644Ter) c.833C>A (p.Ser278Ter) c.1736C>A (p.Ser579Ter) c.1841C>A (p.Ser614Ter) | |
| 17 | g.44254623A>C | CA399783371 | SLC4A1 | c.1930T>G (p.Ser644Ala) c.832T>G (p.Ser278Ala) c.1735T>G (p.Ser579Ala) c.1840T>G (p.Ser614Ala) | |
| 17 | g.44254623A>G | CA399783366 | SLC4A1 | c.1930T>C (p.Ser644Pro) c.832T>C (p.Ser278Pro) c.1735T>C (p.Ser579Pro) c.1840T>C (p.Ser614Pro) | |
| 17 | g.44254623A>T | CA399783369 | SLC4A1 | c.1930T>A (p.Ser644Thr) c.832T>A (p.Ser278Thr) c.1735T>A (p.Ser579Thr) c.1840T>A (p.Ser614Thr) | |
| 17 | g.44254624G>A | CA500285760 | SLC4A1 | c.1929C>T (p.Ser643=) c.831C>T (p.Ser277=) c.1734C>T (p.Ser578=) c.1839C>T (p.Ser613=) | |
| 17 | g.44254624G>C | CA500285762 | SLC4A1 | c.1929C>G (p.Ser643=) c.831C>G (p.Ser277=) c.1734C>G (p.Ser578=) c.1839C>G (p.Ser613=) | |
| 17 | g.44254624G>T | CA500285764 | SLC4A1 | c.1929C>A (p.Ser643=) c.831C>A (p.Ser277=) c.1734C>A (p.Ser578=) c.1839C>A (p.Ser613=) | |
| 17 | g.44254625G>A | CA8600164 | SLC4A1 | c.1928C>T (p.Ser643Phe) c.830C>T (p.Ser277Phe) c.1733C>T (p.Ser578Phe) c.1838C>T (p.Ser613Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254625G>C | CA399783375 | SLC4A1 | c.1928C>G (p.Ser643Cys) c.830C>G (p.Ser277Cys) c.1733C>G (p.Ser578Cys) c.1838C>G (p.Ser613Cys) | |
| 17 | g.44254625G= | CA2261308293 | SLC4A1 | c.1928C= (p.Ser643=) c.830C= (p.Ser277=) c.1733C= (p.Ser578=) c.1838C= (p.Ser613=) | |
| 17 | g.44254625G>T | CA399783378 | SLC4A1 | c.1928C>A (p.Ser643Tyr) c.830C>A (p.Ser277Tyr) c.1733C>A (p.Ser578Tyr) c.1838C>A (p.Ser613Tyr) | |
| 17 | g.44254626A= | CA2261308294 | SLC4A1 | c.1927T= (p.Ser643=) c.829T= (p.Ser277=) c.1732T= (p.Ser578=) c.1837T= (p.Ser613=) | |
| 17 | g.44254626A>C | CA399783385 | SLC4A1 | c.1927T>G (p.Ser643Ala) c.829T>G (p.Ser277Ala) c.1732T>G (p.Ser578Ala) c.1837T>G (p.Ser613Ala) | |
| 17 | g.44254626A>G | CA399783387 | SLC4A1 | c.1927T>C (p.Ser643Pro) c.829T>C (p.Ser277Pro) c.1732T>C (p.Ser578Pro) c.1837T>C (p.Ser613Pro) | |
| 17 | g.44254626A>T | CA399783389 | SLC4A1 | c.1927T>A (p.Ser643Thr) c.829T>A (p.Ser277Thr) c.1732T>A (p.Ser578Thr) c.1837T>A (p.Ser613Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44254627G>A | CA8600165 | SLC4A1 | c.1926C>T (p.Asn642=) c.828C>T (p.Asn276=) c.1731C>T (p.Asn577=) c.1836C>T (p.Asn612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254627G>C | CA399783392 | SLC4A1 | c.1926C>G (p.Asn642Lys) c.828C>G (p.Asn276Lys) c.1731C>G (p.Asn577Lys) c.1836C>G (p.Asn612Lys) | |
| 17 | g.44254627G= | CA2261308295 | SLC4A1 | c.1926C= (p.Asn642=) c.828C= (p.Asn276=) c.1731C= (p.Asn577=) c.1836C= (p.Asn612=) | |
| 17 | g.44254627G>T | CA399783394 | SLC4A1 | c.1926C>A (p.Asn642Lys) c.828C>A (p.Asn276Lys) c.1731C>A (p.Asn577Lys) c.1836C>A (p.Asn612Lys) | |
| 17 | g.44254628T>A | CA399783400 | SLC4A1 | c.1925A>T (p.Asn642Ile) c.827A>T (p.Asn276Ile) c.1730A>T (p.Asn577Ile) c.1835A>T (p.Asn612Ile) | |
| 17 | g.44254628T>C | CA399783401 | SLC4A1 | c.1925A>G (p.Asn642Ser) c.827A>G (p.Asn276Ser) c.1730A>G (p.Asn577Ser) c.1835A>G (p.Asn612Ser) | gnomAD v4 |
| 17 | g.44254628T>G | CA399783404 | SLC4A1 | c.1925A>C (p.Asn642Thr) c.827A>C (p.Asn276Thr) c.1730A>C (p.Asn577Thr) c.1835A>C (p.Asn612Thr) | |
| 17 | g.44254629T>A | CA399783411 | SLC4A1 | c.1924A>T (p.Asn642Tyr) c.826A>T (p.Asn276Tyr) c.1729A>T (p.Asn577Tyr) c.1834A>T (p.Asn612Tyr) | |
| 17 | g.44254629T>C | CA399783413 | SLC4A1 | c.1924A>G (p.Asn642Asp) c.826A>G (p.Asn276Asp) c.1729A>G (p.Asn577Asp) c.1834A>G (p.Asn612Asp) | |
| 17 | g.44254629T>G | CA399783410 | SLC4A1 | c.1924A>C (p.Asn642His) c.826A>C (p.Asn276His) c.1729A>C (p.Asn577His) c.1834A>C (p.Asn612His) | |
| 17 | g.44254630G>A | CA500285786 | SLC4A1 | c.1923C>T (p.Ser641=) c.825C>T (p.Ser275=) c.1728C>T (p.Ser576=) c.1833C>T (p.Ser611=) |