Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44253327C>A | CA399781806 | SLC4A1 | c.2102G>T (p.Gly701Val) c.1004G>T (p.Gly335Val) c.1907G>T (p.Gly636Val) c.2012G>T (p.Gly671Val) | |
17 | g.44253327C= | CA2261307710 | SLC4A1 | c.2102G= (p.Gly701=) c.1004G= (p.Gly335=) c.1907G= (p.Gly636=) c.2012G= (p.Gly671=) | |
17 | g.44253327C>G | CA399781807 | SLC4A1 | c.2102G>C (p.Gly701Ala) c.1004G>C (p.Gly335Ala) c.1907G>C (p.Gly636Ala) c.2012G>C (p.Gly671Ala) | |
17 | g.44253327C>T | CA127391 | SLC4A1 | c.2102G>A (p.Gly701Asp) c.1004G>A (p.Gly335Asp) c.1907G>A (p.Gly636Asp) c.2012G>A (p.Gly671Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44253328C>A | CA399781808 | SLC4A1 | c.2101G>T (p.Gly701Cys) c.1003G>T (p.Gly335Cys) c.1906G>T (p.Gly636Cys) c.2011G>T (p.Gly671Cys) | dbSNP gnomAD v2 |
17 | g.44253328C= | CA2261307711 | SLC4A1 | c.2101G= (p.Gly701=) c.1003G= (p.Gly335=) c.1906G= (p.Gly636=) c.2011G= (p.Gly671=) | |
17 | g.44253328C>G | CA399781809 | SLC4A1 | c.2101G>C (p.Gly701Arg) c.1003G>C (p.Gly335Arg) c.1906G>C (p.Gly636Arg) c.2011G>C (p.Gly671Arg) | |
17 | g.44253328C>T | CA8600116 | SLC4A1 | c.2101G>A (p.Gly701Ser) c.1003G>A (p.Gly335Ser) c.1906G>A (p.Gly636Ser) c.2011G>A (p.Gly671Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44253329G>A | CA8600117 | SLC4A1 | c.2100C>T (p.Ser700=) c.1002C>T (p.Ser334=) c.1905C>T (p.Ser635=) c.2010C>T (p.Ser670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44253329G>C | CA500618903 | SLC4A1 | c.2100C>G (p.Ser700=) c.1002C>G (p.Ser334=) c.1905C>G (p.Ser635=) c.2010C>G (p.Ser670=) | |
17 | g.44253329G= | CA2261307712 | SLC4A1 | c.2100C= (p.Ser700=) c.1002C= (p.Ser334=) c.1905C= (p.Ser635=) c.2010C= (p.Ser670=) | |
17 | g.44253329G>T | CA500618904 | SLC4A1 | c.2100C>A (p.Ser700=) c.1002C>A (p.Ser334=) c.1905C>A (p.Ser635=) c.2010C>A (p.Ser670=) | gnomAD v4 |
17 | g.44253330del | CA2573153930 | SLC4A1 | c.2100del (p.Gly701AlafsTer9) c.1002del (p.Gly335AlafsTer9) c.1905del (p.Gly636AlafsTer9) c.2010del (p.Gly671AlafsTer9) | ClinVar dbSNP |
17 | g.44253330G>A | CA399781812 | SLC4A1 | c.2099C>T (p.Ser700Phe) c.1001C>T (p.Ser334Phe) c.1904C>T (p.Ser635Phe) c.2009C>T (p.Ser670Phe) | |
17 | g.44253330G>C | CA399781811 | SLC4A1 | c.2099C>G (p.Ser700Cys) c.1001C>G (p.Ser334Cys) c.1904C>G (p.Ser635Cys) c.2009C>G (p.Ser670Cys) | |
17 | g.44253330G>T | CA399781810 | SLC4A1 | c.2099C>A (p.Ser700Tyr) c.1001C>A (p.Ser334Tyr) c.1904C>A (p.Ser635Tyr) c.2009C>A (p.Ser670Tyr) | |
17 | g.44253331A>C | CA399781813 | SLC4A1 | c.2098T>G (p.Ser700Ala) c.1000T>G (p.Ser334Ala) c.1903T>G (p.Ser635Ala) c.2008T>G (p.Ser670Ala) | |
17 | g.44253331A>G | CA399781814 | SLC4A1 | c.2098T>C (p.Ser700Pro) c.1000T>C (p.Ser334Pro) c.1903T>C (p.Ser635Pro) c.2008T>C (p.Ser670Pro) | |
17 | g.44253331A>T | CA399781815 | SLC4A1 | c.2098T>A (p.Ser700Thr) c.1000T>A (p.Ser334Thr) c.1903T>A (p.Ser635Thr) c.2008T>A (p.Ser670Thr) | |
17 | g.44253332G>A | CA8600118 | SLC4A1 | c.2097C>T (p.Gly699=) c.999C>T (p.Gly333=) c.1902C>T (p.Gly634=) c.2007C>T (p.Gly669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44253332G>C | CA500618905 | SLC4A1 | c.2097C>G (p.Gly699=) c.999C>G (p.Gly333=) c.1902C>G (p.Gly634=) c.2007C>G (p.Gly669=) | gnomAD v4 |
17 | g.44253332G= | CA2261307713 | SLC4A1 | c.2097C= (p.Gly699=) c.999C= (p.Gly333=) c.1902C= (p.Gly634=) c.2007C= (p.Gly669=) | |
17 | g.44253332G>T | CA500618906 | SLC4A1 | c.2097C>A (p.Gly699=) c.999C>A (p.Gly333=) c.1902C>A (p.Gly634=) c.2007C>A (p.Gly669=) | |
17 | g.44253333C>A | CA399781816 | SLC4A1 | c.2096G>T (p.Gly699Val) c.998G>T (p.Gly333Val) c.1901G>T (p.Gly634Val) c.2006G>T (p.Gly669Val) | |
17 | g.44253333C>G | CA399781817 | SLC4A1 | c.2096G>C (p.Gly699Ala) c.998G>C (p.Gly333Ala) c.1901G>C (p.Gly634Ala) c.2006G>C (p.Gly669Ala) | |
17 | g.44253333C>T | CA399781818 | SLC4A1 | c.2096G>A (p.Gly699Asp) c.998G>A (p.Gly333Asp) c.1901G>A (p.Gly634Asp) c.2006G>A (p.Gly669Asp) | gnomAD v4 |
17 | g.44253334C>A | CA399781819 | SLC4A1 | c.2095G>T (p.Gly699Cys) c.997G>T (p.Gly333Cys) c.1900G>T (p.Gly634Cys) c.2005G>T (p.Gly669Cys) | |
17 | g.44253334C>G | CA399781820 | SLC4A1 | c.2095G>C (p.Gly699Arg) c.997G>C (p.Gly333Arg) c.1900G>C (p.Gly634Arg) c.2005G>C (p.Gly669Arg) | |
17 | g.44253334C>T | CA399781821 | SLC4A1 | c.2095G>A (p.Gly699Ser) c.997G>A (p.Gly333Ser) c.1900G>A (p.Gly634Ser) c.2005G>A (p.Gly669Ser) | |
17 | g.44253335C>A | CA399781822 | SLC4A1 | c.2094G>T (p.Lys698Asn) c.996G>T (p.Lys332Asn) c.1899G>T (p.Lys633Asn) c.2004G>T (p.Lys668Asn) | |
17 | g.44253335C= | CA2261307714 | SLC4A1 | c.2094G= (p.Lys698=) c.996G= (p.Lys332=) c.1899G= (p.Lys633=) c.2004G= (p.Lys668=) | |
17 | g.44253335C>G | CA399781823 | SLC4A1 | c.2094G>C (p.Lys698Asn) c.996G>C (p.Lys332Asn) c.1899G>C (p.Lys633Asn) c.2004G>C (p.Lys668Asn) | dbSNP |
17 | g.44253335C>T | CA500618910 | SLC4A1 | c.2094G>A (p.Lys698=) c.996G>A (p.Lys332=) c.1899G>A (p.Lys633=) c.2004G>A (p.Lys668=) | |
17 | g.44253336T>A | CA399781825 | SLC4A1 | c.2093A>T (p.Lys698Met) c.995A>T (p.Lys332Met) c.1898A>T (p.Lys633Met) c.2003A>T (p.Lys668Met) | dbSNP |
17 | g.44253336T>C | CA399781826 | SLC4A1 | c.2093A>G (p.Lys698Arg) c.995A>G (p.Lys332Arg) c.1898A>G (p.Lys633Arg) c.2003A>G (p.Lys668Arg) | |
17 | g.44253336T>G | CA399781824 | SLC4A1 | c.2093A>C (p.Lys698Thr) c.995A>C (p.Lys332Thr) c.1898A>C (p.Lys633Thr) c.2003A>C (p.Lys668Thr) | |
17 | g.44253336T= | CA2261307715 | SLC4A1 | c.2093A= (p.Lys698=) c.995A= (p.Lys332=) c.1898A= (p.Lys633=) c.2003A= (p.Lys668=) | |
17 | g.44253337T>A | CA399781827 | SLC4A1 | c.2092A>T (p.Lys698Ter) c.994A>T (p.Lys332Ter) c.1897A>T (p.Lys633Ter) c.2002A>T (p.Lys668Ter) | |
17 | g.44253337T>C | CA399781828 | SLC4A1 | c.2092A>G (p.Lys698Glu) c.994A>G (p.Lys332Glu) c.1897A>G (p.Lys633Glu) c.2002A>G (p.Lys668Glu) | |
17 | g.44253337T>G | CA399781829 | SLC4A1 | c.2092A>C (p.Lys698Gln) c.994A>C (p.Lys332Gln) c.1897A>C (p.Lys633Gln) c.2002A>C (p.Lys668Gln) | |
17 | g.44253338G>A | CA500618915 | SLC4A1 | c.2091C>T (p.Val697=) c.993C>T (p.Val331=) c.1896C>T (p.Val632=) c.2001C>T (p.Val667=) | |
17 | g.44253338G>C | CA500618913 | SLC4A1 | c.2091C>G (p.Val697=) c.993C>G (p.Val331=) c.1896C>G (p.Val632=) c.2001C>G (p.Val667=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44253338G= | CA2261307716 | SLC4A1 | c.2091C= (p.Val697=) c.993C= (p.Val331=) c.1896C= (p.Val632=) c.2001C= (p.Val667=) | |
17 | g.44253338G>T | CA500618914 | SLC4A1 | c.2091C>A (p.Val697=) c.993C>A (p.Val331=) c.1896C>A (p.Val632=) c.2001C>A (p.Val667=) | |
17 | g.44253339A= | CA2261307717 | SLC4A1 | c.2090T= (p.Val697=) c.992T= (p.Val331=) c.1895T= (p.Val632=) c.2000T= (p.Val667=) | |
17 | g.44253339A>C | CA399781830 | SLC4A1 | c.2090T>G (p.Val697Gly) c.992T>G (p.Val331Gly) c.1895T>G (p.Val632Gly) c.2000T>G (p.Val667Gly) | |
17 | g.44253339A>G | CA399781831 | SLC4A1 | c.2090T>C (p.Val697Ala) c.992T>C (p.Val331Ala) c.1895T>C (p.Val632Ala) c.2000T>C (p.Val667Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44253339A>T | CA399781832 | SLC4A1 | c.2090T>A (p.Val697Asp) c.992T>A (p.Val331Asp) c.1895T>A (p.Val632Asp) c.2000T>A (p.Val667Asp) | |
17 | g.44253340C>A | CA399781833 | SLC4A1 | c.2089G>T (p.Val697Phe) c.991G>T (p.Val331Phe) c.1894G>T (p.Val632Phe) c.1999G>T (p.Val667Phe) | |
17 | g.44253340C>G | CA399781834 | SLC4A1 | c.2089G>C (p.Val697Leu) c.991G>C (p.Val331Leu) c.1894G>C (p.Val632Leu) c.1999G>C (p.Val667Leu) |