Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151064235G>A | CA370007775 | SLC4A2 | c.85G>A (p.Gly29Arg) c.52-370G>A (n.52-370G>A) c.58G>A (p.Gly20Arg) c.43G>A (p.Gly15Arg) n.320G>A | |
7 | g.151064235G>C | CA370007776 | SLC4A2 | c.85G>C (p.Gly29Arg) c.52-370G>C (n.52-370G>C) c.58G>C (p.Gly20Arg) c.43G>C (p.Gly15Arg) n.320G>C | |
7 | g.151064235G>T | CA370007777 | SLC4A2 | c.85G>T (p.Gly29Trp) c.52-370G>T (n.52-370G>T) c.58G>T (p.Gly20Trp) c.43G>T (p.Gly15Trp) n.320G>T | |
7 | g.151064236G>A | CA370007778 | SLC4A2 | c.86G>A (p.Gly29Glu) c.52-369G>A (n.52-369G>A) c.59G>A (p.Gly20Glu) c.44G>A (p.Gly15Glu) n.321G>A | COSMIC |
7 | g.151064236G>C | CA4570725 | SLC4A2 | c.86G>C (p.Gly29Ala) c.52-369G>C (n.52-369G>C) c.59G>C (p.Gly20Ala) c.44G>C (p.Gly15Ala) n.321G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064236G= | CA1752500307 | SLC4A2 | c.86G= (p.Gly29=) c.52-369G= (n.52-369G=) c.59G= (p.Gly20=) c.44G= (p.Gly15=) n.321G= | |
7 | g.151064236G>T | CA370007779 | SLC4A2 | c.86G>T (p.Gly29Val) c.52-369G>T (n.52-369G>T) c.59G>T (p.Gly20Val) c.44G>T (p.Gly15Val) n.321G>T | |
7 | g.151064237G>A | CA458644841 | SLC4A2 | c.87G>A (p.Gly29=) c.52-368G>A (n.52-368G>A) c.60G>A (p.Gly20=) c.45G>A (p.Gly15=) n.322G>A | gnomAD v4 |
7 | g.151064237G>C | CA458644842 | SLC4A2 | c.87G>C (p.Gly29=) c.52-368G>C (n.52-368G>C) c.60G>C (p.Gly20=) c.45G>C (p.Gly15=) n.322G>C | |
7 | g.151064237G>T | CA458644843 | SLC4A2 | c.87G>T (p.Gly29=) c.52-368G>T (n.52-368G>T) c.60G>T (p.Gly20=) c.45G>T (p.Gly15=) n.322G>T | dbSNP gnomAD v4 |
7 | g.151064238T>A | CA370007780 | SLC4A2 | c.88T>A (p.Phe30Ile) c.52-367T>A (n.52-367T>A) c.61T>A (p.Phe21Ile) c.46T>A (p.Phe16Ile) n.323T>A | |
7 | g.151064238T>C | CA370007782 | SLC4A2 | c.88T>C (p.Phe30Leu) c.52-367T>C (n.52-367T>C) c.61T>C (p.Phe21Leu) c.46T>C (p.Phe16Leu) n.323T>C | |
7 | g.151064238T>G | CA370007781 | SLC4A2 | c.88T>G (p.Phe30Val) c.52-367T>G (n.52-367T>G) c.61T>G (p.Phe21Val) c.46T>G (p.Phe16Val) n.323T>G | |
7 | g.151064239T>A | CA370007783 | SLC4A2 | c.89T>A (p.Phe30Tyr) c.52-366T>A (n.52-366T>A) c.62T>A (p.Phe21Tyr) c.47T>A (p.Phe16Tyr) n.324T>A | |
7 | g.151064239T>C | CA370007784 | SLC4A2 | c.89T>C (p.Phe30Ser) c.52-366T>C (n.52-366T>C) c.62T>C (p.Phe21Ser) c.47T>C (p.Phe16Ser) n.324T>C | |
7 | g.151064239T>G | CA370007785 | SLC4A2 | c.89T>G (p.Phe30Cys) c.52-366T>G (n.52-366T>G) c.62T>G (p.Phe21Cys) c.47T>G (p.Phe16Cys) n.324T>G | |
7 | g.151064240C>A | CA370007786 | SLC4A2 | c.90C>A (p.Phe30Leu) c.52-365C>A (n.52-365C>A) c.63C>A (p.Phe21Leu) c.48C>A (p.Phe16Leu) n.325C>A | |
7 | g.151064240C>G | CA370007787 | SLC4A2 | c.90C>G (p.Phe30Leu) c.52-365C>G (n.52-365C>G) c.63C>G (p.Phe21Leu) c.48C>G (p.Phe16Leu) n.325C>G | |
7 | g.151064240C>T | CA458644846 | SLC4A2 | c.90C>T (p.Phe30=) c.52-365C>T (n.52-365C>T) c.63C>T (p.Phe21=) c.48C>T (p.Phe16=) n.325C>T | |
7 | g.151064241C>A | CA370007788 | SLC4A2 | c.91C>A (p.Pro31Thr) c.52-364C>A (n.52-364C>A) c.64C>A (p.Pro22Thr) c.49C>A (p.Pro17Thr) n.326C>A | |
7 | g.151064241C>G | CA370007789 | SLC4A2 | c.91C>G (p.Pro31Ala) c.52-364C>G (n.52-364C>G) c.64C>G (p.Pro22Ala) c.49C>G (p.Pro17Ala) n.326C>G | |
7 | g.151064241C>T | CA370007790 | SLC4A2 | c.91C>T (p.Pro31Ser) c.52-364C>T (n.52-364C>T) c.64C>T (p.Pro22Ser) c.49C>T (p.Pro17Ser) n.326C>T | |
7 | g.151064242C>A | CA370007791 | SLC4A2 | c.92C>A (p.Pro31His) c.52-363C>A (n.52-363C>A) c.65C>A (p.Pro22His) c.50C>A (p.Pro17His) n.327C>A | |
7 | g.151064242C>G | CA370007792 | SLC4A2 | c.92C>G (p.Pro31Arg) c.52-363C>G (n.52-363C>G) c.65C>G (p.Pro22Arg) c.50C>G (p.Pro17Arg) n.327C>G | |
7 | g.151064242C>T | CA370007793 | SLC4A2 | c.92C>T (p.Pro31Leu) c.52-363C>T (n.52-363C>T) c.65C>T (p.Pro22Leu) c.50C>T (p.Pro17Leu) n.327C>T | |
7 | g.151064243C>A | CA458644850 | SLC4A2 | c.93C>A (p.Pro31=) c.52-362C>A (n.52-362C>A) c.66C>A (p.Pro22=) c.51C>A (p.Pro17=) n.328C>A | |
7 | g.151064243C= | CA1752500308 | SLC4A2 | c.93C= (p.Pro31=) c.52-362C= (n.52-362C=) c.66C= (p.Pro22=) c.51C= (p.Pro17=) n.328C= | |
7 | g.151064243C>G | CA169084064 | SLC4A2 | c.93C>G (p.Pro31=) c.52-362C>G (n.52-362C>G) c.66C>G (p.Pro22=) c.51C>G (p.Pro17=) n.328C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064243C>T | CA4570726 | SLC4A2 | c.93C>T (p.Pro31=) c.52-362C>T (n.52-362C>T) c.66C>T (p.Pro22=) c.51C>T (p.Pro17=) n.328C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064244G>A | CA216327 | SLC4A2 | c.94G>A (p.Glu32Lys) c.52-361G>A (n.52-361G>A) c.67G>A (p.Glu23Lys) c.52G>A (p.Glu18Lys) n.329G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064244G>C | CA370007795 | SLC4A2 | c.94G>C (p.Glu32Gln) c.52-361G>C (n.52-361G>C) c.67G>C (p.Glu23Gln) c.52G>C (p.Glu18Gln) n.329G>C | |
7 | g.151064244G= | CA1752500309 | SLC4A2 | c.94G= (p.Glu32=) c.52-361G= (n.52-361G=) c.67G= (p.Glu23=) c.52G= (p.Glu18=) n.329G= | |
7 | g.151064244G>T | CA370007794 | SLC4A2 | c.94G>T (p.Glu32Ter) c.52-361G>T (n.52-361G>T) c.67G>T (p.Glu23Ter) c.52G>T (p.Glu18Ter) n.329G>T | |
7 | g.151064245A>C | CA370007796 | SLC4A2 | c.95A>C (p.Glu32Ala) c.52-360A>C (n.52-360A>C) c.68A>C (p.Glu23Ala) c.53A>C (p.Glu18Ala) n.330A>C | |
7 | g.151064245A>G | CA370007798 | SLC4A2 | c.95A>G (p.Glu32Gly) c.52-360A>G (n.52-360A>G) c.68A>G (p.Glu23Gly) c.53A>G (p.Glu18Gly) n.330A>G | |
7 | g.151064245A>T | CA370007797 | SLC4A2 | c.95A>T (p.Glu32Val) c.52-360A>T (n.52-360A>T) c.68A>T (p.Glu23Val) c.53A>T (p.Glu18Val) n.330A>T | |
7 | g.151064246G>A | CA458644857 | SLC4A2 | c.96G>A (p.Glu32=) c.52-359G>A (n.52-359G>A) c.69G>A (p.Glu23=) c.54G>A (p.Glu18=) n.331G>A | |
7 | g.151064246G>C | CA370007799 | SLC4A2 | c.96G>C (p.Glu32Asp) c.52-359G>C (n.52-359G>C) c.69G>C (p.Glu23Asp) c.54G>C (p.Glu18Asp) n.331G>C | |
7 | g.151064246G>T | CA370007800 | SLC4A2 | c.96G>T (p.Glu32Asp) c.52-359G>T (n.52-359G>T) c.69G>T (p.Glu23Asp) c.54G>T (p.Glu18Asp) n.331G>T | |
7 | g.151064247C>A | CA4570727 | SLC4A2 | c.97C>A (p.Gln33Lys) c.52-358C>A (n.52-358C>A) c.70C>A (p.Gln24Lys) c.55C>A (p.Gln19Lys) n.332C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064247C= | CA1752500310 | SLC4A2 | c.97C= (p.Gln33=) c.52-358C= (n.52-358C=) c.70C= (p.Gln24=) c.55C= (p.Gln19=) n.332C= | |
7 | g.151064247C>G | CA370007801 | SLC4A2 | c.97C>G (p.Gln33Glu) c.52-358C>G (n.52-358C>G) c.70C>G (p.Gln24Glu) c.55C>G (p.Gln19Glu) n.332C>G | gnomAD v4 |
7 | g.151064247C>T | CA370007802 | SLC4A2 | c.97C>T (p.Gln33Ter) c.52-358C>T (n.52-358C>T) c.70C>T (p.Gln24Ter) c.55C>T (p.Gln19Ter) n.332C>T | gnomAD v4 |
7 | g.151064248del | CA2579064979 | SLC4A2 | c.98del (p.Gln33ArgfsTer?) c.52-357del (n.52-357del) c.71del (p.Gln24ArgfsTer?) c.56del (p.Gln19ArgfsTer?) n.333del | |
7 | g.151064248A= | CA1752500311 | SLC4A2 | c.98A= (p.Gln33=) c.52-357A= (n.52-357A=) c.71A= (p.Gln24=) c.56A= (p.Gln19=) n.333A= | |
7 | g.151064248A>C | CA370007803 | SLC4A2 | c.98A>C (p.Gln33Pro) c.52-357A>C (n.52-357A>C) c.71A>C (p.Gln24Pro) c.56A>C (p.Gln19Pro) n.333A>C | dbSNP gnomAD v4 |
7 | g.151064248A>G | CA4570728 | SLC4A2 | c.98A>G (p.Gln33Arg) c.52-357A>G (n.52-357A>G) c.71A>G (p.Gln24Arg) c.56A>G (p.Gln19Arg) n.333A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064248A>T | CA370007804 | SLC4A2 | c.98A>T (p.Gln33Leu) c.52-357A>T (n.52-357A>T) c.71A>T (p.Gln24Leu) c.56A>T (p.Gln19Leu) n.333A>T | |
7 | g.151064249G>A | CA458644860 | SLC4A2 | c.99G>A (p.Gln33=) c.52-356G>A (n.52-356G>A) c.72G>A (p.Gln24=) c.57G>A (p.Gln19=) n.334G>A | dbSNP |
7 | g.151064249G>C | CA370007806 | SLC4A2 | c.99G>C (p.Gln33His) c.52-356G>C (n.52-356G>C) c.72G>C (p.Gln24His) c.57G>C (p.Gln19His) n.334G>C | |
7 | g.151064249G= | CA1752500312 | SLC4A2 | c.99G= (p.Gln33=) c.52-356G= (n.52-356G=) c.72G= (p.Gln24=) c.57G= (p.Gln19=) n.334G= | |
7 | g.151064249G>T | CA370007805 | SLC4A2 | c.99G>T (p.Gln33His) c.52-356G>T (n.52-356G>T) c.72G>T (p.Gln24His) c.57G>T (p.Gln19His) n.334G>T | dbSNP |
7 | g.151064250G>A | CA370007807 | SLC4A2 | c.100G>A (p.Glu34Lys) c.52-355G>A (n.52-355G>A) c.73G>A (p.Glu25Lys) c.58G>A (p.Glu20Lys) n.335G>A | |
7 | g.151064250G>C | CA370007808 | SLC4A2 | c.100G>C (p.Glu34Gln) c.52-355G>C (n.52-355G>C) c.73G>C (p.Glu25Gln) c.58G>C (p.Glu20Gln) n.335G>C | dbSNP |
7 | g.151064250G= | CA1752500313 | SLC4A2 | c.100G= (p.Glu34=) c.52-355G= (n.52-355G=) c.73G= (p.Glu25=) c.58G= (p.Glu20=) n.335G= | |
7 | g.151064250G>T | CA370007809 | SLC4A2 | c.100G>T (p.Glu34Ter) c.52-355G>T (n.52-355G>T) c.73G>T (p.Glu25Ter) c.58G>T (p.Glu20Ter) n.335G>T | gnomAD v4 |
7 | g.151064251A= | CA1752500314 | SLC4A2 | c.101A= (p.Glu34=) c.52-354A= (n.52-354A=) c.74A= (p.Glu25=) c.59A= (p.Glu20=) n.336A= | |
7 | g.151064251A>C | CA370007810 | SLC4A2 | c.101A>C (p.Glu34Ala) c.52-354A>C (n.52-354A>C) c.74A>C (p.Glu25Ala) c.59A>C (p.Glu20Ala) n.336A>C | |
7 | g.151064251A>G | CA4570729 | SLC4A2 | c.101A>G (p.Glu34Gly) c.52-354A>G (n.52-354A>G) c.74A>G (p.Glu25Gly) c.59A>G (p.Glu20Gly) n.336A>G | dbSNP ExAC gnomAD v2 |
7 | g.151064251A>T | CA370007811 | SLC4A2 | c.101A>T (p.Glu34Val) c.52-354A>T (n.52-354A>T) c.74A>T (p.Glu25Val) c.59A>T (p.Glu20Val) n.336A>T | |
7 | g.151064252G>A | CA4570730 | SLC4A2 | c.102G>A (p.Glu34=) c.52-353G>A (n.52-353G>A) c.75G>A (p.Glu25=) c.60G>A (p.Glu20=) n.337G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064252G>C | CA370007813 | SLC4A2 | c.102G>C (p.Glu34Asp) c.52-353G>C (n.52-353G>C) c.75G>C (p.Glu25Asp) c.60G>C (p.Glu20Asp) n.337G>C | |
7 | g.151064252G= | CA1752500315 | SLC4A2 | c.102G= (p.Glu34=) c.52-353G= (n.52-353G=) c.75G= (p.Glu25=) c.60G= (p.Glu20=) n.337G= | |
7 | g.151064252G>T | CA370007812 | SLC4A2 | c.102G>T (p.Glu34Asp) c.52-353G>T (n.52-353G>T) c.75G>T (p.Glu25Asp) c.60G>T (p.Glu20Asp) n.337G>T | |
7 | g.151064253G>A | CA370007814 | SLC4A2 | c.103G>A (p.Glu35Lys) c.52-352G>A (n.52-352G>A) c.76G>A (p.Glu26Lys) c.61G>A (p.Glu21Lys) n.338G>A | |
7 | g.151064253G>C | CA370007815 | SLC4A2 | c.103G>C (p.Glu35Gln) c.52-352G>C (n.52-352G>C) c.76G>C (p.Glu26Gln) c.61G>C (p.Glu21Gln) n.338G>C | |
7 | g.151064253G>T | CA370007816 | SLC4A2 | c.103G>T (p.Glu35Ter) c.52-352G>T (n.52-352G>T) c.76G>T (p.Glu26Ter) c.61G>T (p.Glu21Ter) n.338G>T | |
7 | g.151064254A>C | CA370007817 | SLC4A2 | c.104A>C (p.Glu35Ala) c.52-351A>C (n.52-351A>C) c.77A>C (p.Glu26Ala) c.62A>C (p.Glu21Ala) n.339A>C | |
7 | g.151064254A>G | CA370007818 | SLC4A2 | c.104A>G (p.Glu35Gly) c.52-351A>G (n.52-351A>G) c.77A>G (p.Glu26Gly) c.62A>G (p.Glu21Gly) n.339A>G | |
7 | g.151064254A>T | CA370007819 | SLC4A2 | c.104A>T (p.Glu35Val) c.52-351A>T (n.52-351A>T) c.77A>T (p.Glu26Val) c.62A>T (p.Glu21Val) n.339A>T | |
7 | g.151064255A>C | CA370007820 | SLC4A2 | c.105A>C (p.Glu35Asp) c.52-350A>C (n.52-350A>C) c.78A>C (p.Glu26Asp) c.63A>C (p.Glu21Asp) n.340A>C | |
7 | g.151064255A>G | CA458644869 | SLC4A2 | c.105A>G (p.Glu35=) c.52-350A>G (n.52-350A>G) c.78A>G (p.Glu26=) c.63A>G (p.Glu21=) n.340A>G | |
7 | g.151064255A>T | CA370007821 | SLC4A2 | c.105A>T (p.Glu35Asp) c.52-350A>T (n.52-350A>T) c.78A>T (p.Glu26Asp) c.63A>T (p.Glu21Asp) n.340A>T | |
7 | g.151064256G>A | CA370007822 | SLC4A2 | c.106G>A (p.Asp36Asn) c.52-349G>A (n.52-349G>A) c.79G>A (p.Asp27Asn) c.64G>A (p.Asp22Asn) n.341G>A | dbSNP |
7 | g.151064256G>C | CA370007823 | SLC4A2 | c.106G>C (p.Asp36His) c.52-349G>C (n.52-349G>C) c.79G>C (p.Asp27His) c.64G>C (p.Asp22His) n.341G>C | |
7 | g.151064256G= | CA1752500316 | SLC4A2 | c.106G= (p.Asp36=) c.52-349G= (n.52-349G=) c.79G= (p.Asp27=) c.64G= (p.Asp22=) n.341G= | |
7 | g.151064256G>T | CA370007824 | SLC4A2 | c.106G>T (p.Asp36Tyr) c.52-349G>T (n.52-349G>T) c.79G>T (p.Asp27Tyr) c.64G>T (p.Asp22Tyr) n.341G>T | |
7 | g.151064257A= | CA1752500317 | SLC4A2 | c.107A= (p.Asp36=) c.52-348A= (n.52-348A=) c.80A= (p.Asp27=) c.65A= (p.Asp22=) n.342A= | |
7 | g.151064257A>C | CA370007825 | SLC4A2 | c.107A>C (p.Asp36Ala) c.52-348A>C (n.52-348A>C) c.80A>C (p.Asp27Ala) c.65A>C (p.Asp22Ala) n.342A>C | |
7 | g.151064257A>G | CA370007827 | SLC4A2 | c.107A>G (p.Asp36Gly) c.52-348A>G (n.52-348A>G) c.80A>G (p.Asp27Gly) c.65A>G (p.Asp22Gly) n.342A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064257A>T | CA370007826 | SLC4A2 | c.107A>T (p.Asp36Val) c.52-348A>T (n.52-348A>T) c.80A>T (p.Asp27Val) c.65A>T (p.Asp22Val) n.342A>T | |
7 | g.151064258C>A | CA370007828 | SLC4A2 | c.108C>A (p.Asp36Glu) c.52-347C>A (n.52-347C>A) c.81C>A (p.Asp27Glu) c.66C>A (p.Asp22Glu) n.343C>A | |
7 | g.151064258C= | CA1752500318 | SLC4A2 | c.108C= (p.Asp36=) c.52-347C= (n.52-347C=) c.81C= (p.Asp27=) c.66C= (p.Asp22=) n.343C= | |
7 | g.151064258C>G | CA370007829 | SLC4A2 | c.108C>G (p.Asp36Glu) c.52-347C>G (n.52-347C>G) c.81C>G (p.Asp27Glu) c.66C>G (p.Asp22Glu) n.343C>G | gnomAD v4 |
7 | g.151064258C>T | CA4570731 | SLC4A2 | c.108C>T (p.Asp36=) c.52-347C>T (n.52-347C>T) c.81C>T (p.Asp27=) c.66C>T (p.Asp22=) n.343C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064259G>A | CA370007830 | SLC4A2 | c.109G>A (p.Glu37Lys) c.52-346G>A (n.52-346G>A) c.82G>A (p.Glu28Lys) c.67G>A (p.Glu23Lys) n.344G>A | gnomAD v4 |
7 | g.151064259G>C | CA370007831 | SLC4A2 | c.109G>C (p.Glu37Gln) c.52-346G>C (n.52-346G>C) c.82G>C (p.Glu28Gln) c.67G>C (p.Glu23Gln) n.344G>C | |
7 | g.151064259G>T | CA370007832 | SLC4A2 | c.109G>T (p.Glu37Ter) c.52-346G>T (n.52-346G>T) c.82G>T (p.Glu28Ter) c.67G>T (p.Glu23Ter) n.344G>T | |
7 | g.151064260A= | CA1752500319 | SLC4A2 | c.110A= (p.Glu37=) c.52-345A= (n.52-345A=) c.83A= (p.Glu28=) c.68A= (p.Glu23=) n.345A= | |
7 | g.151064260A>C | CA370007833 | SLC4A2 | c.110A>C (p.Glu37Ala) c.52-345A>C (n.52-345A>C) c.83A>C (p.Glu28Ala) c.68A>C (p.Glu23Ala) n.345A>C | |
7 | g.151064260A>G | CA370007834 | SLC4A2 | c.110A>G (p.Glu37Gly) c.52-345A>G (n.52-345A>G) c.83A>G (p.Glu28Gly) c.68A>G (p.Glu23Gly) n.345A>G | dbSNP gnomAD v4 |
7 | g.151064260A>T | CA370007835 | SLC4A2 | c.110A>T (p.Glu37Val) c.52-345A>T (n.52-345A>T) c.83A>T (p.Glu28Val) c.68A>T (p.Glu23Val) n.345A>T | |
7 | g.151064261A>C | CA370007836 | SLC4A2 | c.111A>C (p.Glu37Asp) c.52-344A>C (n.52-344A>C) c.84A>C (p.Glu28Asp) c.69A>C (p.Glu23Asp) n.346A>C | |
7 | g.151064261A>G | CA458644875 | SLC4A2 | c.111A>G (p.Glu37=) c.52-344A>G (n.52-344A>G) c.84A>G (p.Glu28=) c.69A>G (p.Glu23=) n.346A>G | |
7 | g.151064261A>T | CA370007837 | SLC4A2 | c.111A>T (p.Glu37Asp) c.52-344A>T (n.52-344A>T) c.84A>T (p.Glu28Asp) c.69A>T (p.Glu23Asp) n.346A>T | |
7 | g.151064262C>A | CA370007840 | SLC4A2 | c.112C>A (p.Leu38Ile) c.52-343C>A (n.52-343C>A) c.85C>A (p.Leu29Ile) c.70C>A (p.Leu24Ile) n.347C>A | COSMIC |
7 | g.151064262C= | CA1752500320 | SLC4A2 | c.112C= (p.Leu38=) c.52-343C= (n.52-343C=) c.85C= (p.Leu29=) c.70C= (p.Leu24=) n.347C= | |
7 | g.151064262C>G | CA370007838 | SLC4A2 | c.112C>G (p.Leu38Val) c.52-343C>G (n.52-343C>G) c.85C>G (p.Leu29Val) c.70C>G (p.Leu24Val) n.347C>G | |
7 | g.151064262C>T | CA370007839 | SLC4A2 | c.112C>T (p.Leu38Phe) c.52-343C>T (n.52-343C>T) c.85C>T (p.Leu29Phe) c.70C>T (p.Leu24Phe) n.347C>T | dbSNP |
7 | g.151064263T>A | CA370007841 | SLC4A2 | c.113T>A (p.Leu38His) c.52-342T>A (n.52-342T>A) c.86T>A (p.Leu29His) c.71T>A (p.Leu24His) n.348T>A | |
7 | g.151064263T>C | CA370007842 | SLC4A2 | c.113T>C (p.Leu38Pro) c.52-342T>C (n.52-342T>C) c.86T>C (p.Leu29Pro) c.71T>C (p.Leu24Pro) n.348T>C | |
7 | g.151064263T>G | CA370007843 | SLC4A2 | c.113T>G (p.Leu38Arg) c.52-342T>G (n.52-342T>G) c.86T>G (p.Leu29Arg) c.71T>G (p.Leu24Arg) n.348T>G | |
7 | g.151064264T>A | CA458644876 | SLC4A2 | c.114T>A (p.Leu38=) c.52-341T>A (n.52-341T>A) c.87T>A (p.Leu29=) c.72T>A (p.Leu24=) n.349T>A | |
7 | g.151064264T>C | CA458644877 | SLC4A2 | c.114T>C (p.Leu38=) c.52-341T>C (n.52-341T>C) c.87T>C (p.Leu29=) c.72T>C (p.Leu24=) n.349T>C | |
7 | g.151064264T>G | CA458644878 | SLC4A2 | c.114T>G (p.Leu38=) c.52-341T>G (n.52-341T>G) c.87T>G (p.Leu29=) c.72T>G (p.Leu24=) n.349T>G | dbSNP |
7 | g.151064264T= | CA1752500321 | SLC4A2 | c.114T= (p.Leu38=) c.52-341T= (n.52-341T=) c.87T= (p.Leu29=) c.72T= (p.Leu24=) n.349T= | |
7 | g.151064265C>A | CA370007844 | SLC4A2 | c.115C>A (p.His39Asn) c.52-340C>A (n.52-340C>A) c.88C>A (p.His30Asn) c.73C>A (p.His25Asn) n.350C>A | |
7 | g.151064265C>G | CA370007845 | SLC4A2 | c.115C>G (p.His39Asp) c.52-340C>G (n.52-340C>G) c.88C>G (p.His30Asp) c.73C>G (p.His25Asp) n.350C>G | |
7 | g.151064265C>T | CA370007846 | SLC4A2 | c.115C>T (p.His39Tyr) c.52-340C>T (n.52-340C>T) c.88C>T (p.His30Tyr) c.73C>T (p.His25Tyr) n.350C>T | gnomAD v4 |
7 | g.151064266A>C | CA370007847 | SLC4A2 | c.116A>C (p.His39Pro) c.52-339A>C (n.52-339A>C) c.89A>C (p.His30Pro) c.74A>C (p.His25Pro) n.351A>C | |
7 | g.151064266A>G | CA370007848 | SLC4A2 | c.116A>G (p.His39Arg) c.52-339A>G (n.52-339A>G) c.89A>G (p.His30Arg) c.74A>G (p.His25Arg) n.351A>G | |
7 | g.151064266A>T | CA370007849 | SLC4A2 | c.116A>T (p.His39Leu) c.52-339A>T (n.52-339A>T) c.89A>T (p.His30Leu) c.74A>T (p.His25Leu) n.351A>T | |
7 | g.151064267C>A | CA370007850 | SLC4A2 | c.117C>A (p.His39Gln) c.52-338C>A (n.52-338C>A) c.90C>A (p.His30Gln) c.75C>A (p.His25Gln) n.352C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151064267C= | CA1752500322 | SLC4A2 | c.117C= (p.His39=) c.52-338C= (n.52-338C=) c.90C= (p.His30=) c.75C= (p.His25=) n.352C= | |
7 | g.151064267C>G | CA370007851 | SLC4A2 | c.117C>G (p.His39Gln) c.52-338C>G (n.52-338C>G) c.90C>G (p.His30Gln) c.75C>G (p.His25Gln) n.352C>G | gnomAD v4 |
7 | g.151064267C>T | CA458644884 | SLC4A2 | c.117C>T (p.His39=) c.52-338C>T (n.52-338C>T) c.90C>T (p.His30=) c.75C>T (p.His25=) n.352C>T | |
7 | g.151064268C>A | CA370007852 | SLC4A2 | c.118C>A (p.Arg40Ser) c.52-337C>A (n.52-337C>A) c.91C>A (p.Arg31Ser) c.76C>A (p.Arg26Ser) n.353C>A | gnomAD v4 |
7 | g.151064268C= | CA1752500323 | SLC4A2 | c.118C= (p.Arg40=) c.52-337C= (n.52-337C=) c.91C= (p.Arg31=) c.76C= (p.Arg26=) n.353C= | |
7 | g.151064268C>G | CA370007853 | SLC4A2 | c.118C>G (p.Arg40Gly) c.52-337C>G (n.52-337C>G) c.91C>G (p.Arg31Gly) c.76C>G (p.Arg26Gly) n.353C>G | |
7 | g.151064268C>T | CA4570732 | SLC4A2 | c.118C>T (p.Arg40Cys) c.52-337C>T (n.52-337C>T) c.91C>T (p.Arg31Cys) c.76C>T (p.Arg26Cys) n.353C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064269G>A | CA4570733 | SLC4A2 | c.119G>A (p.Arg40His) c.52-336G>A (n.52-336G>A) c.92G>A (p.Arg31His) c.77G>A (p.Arg26His) n.354G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064269G>C | CA370007854 | SLC4A2 | c.119G>C (p.Arg40Pro) c.52-336G>C (n.52-336G>C) c.92G>C (p.Arg31Pro) c.77G>C (p.Arg26Pro) n.354G>C | |
7 | g.151064269G= | CA1752500324 | SLC4A2 | c.119G= (p.Arg40=) c.52-336G= (n.52-336G=) c.92G= (p.Arg31=) c.77G= (p.Arg26=) n.354G= | |
7 | g.151064269G>T | CA370007855 | SLC4A2 | c.119G>T (p.Arg40Leu) c.52-336G>T (n.52-336G>T) c.92G>T (p.Arg31Leu) c.77G>T (p.Arg26Leu) n.354G>T | dbSNP |
7 | g.151064270C>A | CA458644888 | SLC4A2 | c.120C>A (p.Arg40=) c.52-335C>A (n.52-335C>A) c.93C>A (p.Arg31=) c.78C>A (p.Arg26=) n.355C>A | |
7 | g.151064270C= | CA1752500325 | SLC4A2 | c.120C= (p.Arg40=) c.52-335C= (n.52-335C=) c.93C= (p.Arg31=) c.78C= (p.Arg26=) n.355C= | |
7 | g.151064270C>G | CA458644890 | SLC4A2 | c.120C>G (p.Arg40=) c.52-335C>G (n.52-335C>G) c.93C>G (p.Arg31=) c.78C>G (p.Arg26=) n.355C>G | |
7 | g.151064270C>T | CA4570734 | SLC4A2 | c.120C>T (p.Arg40=) c.52-335C>T (n.52-335C>T) c.93C>T (p.Arg31=) c.78C>T (p.Arg26=) n.355C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064271A>C | CA370007856 | SLC4A2 | c.121A>C (p.Thr41Pro) c.52-334A>C (n.52-334A>C) c.94A>C (p.Thr32Pro) c.79A>C (p.Thr27Pro) n.356A>C | |
7 | g.151064271A>G | CA370007857 | SLC4A2 | c.121A>G (p.Thr41Ala) c.52-334A>G (n.52-334A>G) c.94A>G (p.Thr32Ala) c.79A>G (p.Thr27Ala) n.356A>G | gnomAD v4 |
7 | g.151064271A>T | CA370007858 | SLC4A2 | c.121A>T (p.Thr41Ser) c.52-334A>T (n.52-334A>T) c.94A>T (p.Thr32Ser) c.79A>T (p.Thr27Ser) n.356A>T | |
7 | g.151064272C>A | CA370007859 | SLC4A2 | c.122C>A (p.Thr41Asn) c.52-333C>A (n.52-333C>A) c.95C>A (p.Thr32Asn) c.80C>A (p.Thr27Asn) n.357C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064272C= | CA1752500326 | SLC4A2 | c.122C= (p.Thr41=) c.52-333C= (n.52-333C=) c.95C= (p.Thr32=) c.80C= (p.Thr27=) n.357C= | |
7 | g.151064272C>G | CA370007860 | SLC4A2 | c.122C>G (p.Thr41Ser) c.52-333C>G (n.52-333C>G) c.95C>G (p.Thr32Ser) c.80C>G (p.Thr27Ser) n.357C>G | |
7 | g.151064272C>T | CA370007861 | SLC4A2 | c.122C>T (p.Thr41Ile) c.52-333C>T (n.52-333C>T) c.95C>T (p.Thr32Ile) c.80C>T (p.Thr27Ile) n.357C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064273C>A | CA458644893 | SLC4A2 | c.123C>A (p.Thr41=) c.52-332C>A (n.52-332C>A) c.96C>A (p.Thr32=) c.81C>A (p.Thr27=) n.358C>A | |
7 | g.151064273C>G | CA458644894 | SLC4A2 | c.123C>G (p.Thr41=) c.52-332C>G (n.52-332C>G) c.96C>G (p.Thr32=) c.81C>G (p.Thr27=) n.358C>G | |
7 | g.151064273C>T | CA458644895 | SLC4A2 | c.123C>T (p.Thr41=) c.52-332C>T (n.52-332C>T) c.96C>T (p.Thr32=) c.81C>T (p.Thr27=) n.358C>T | |
7 | g.151064274C>A | CA370007862 | SLC4A2 | c.124C>A (p.Leu42Met) c.52-331C>A (n.52-331C>A) c.97C>A (p.Leu33Met) c.82C>A (p.Leu28Met) n.359C>A | |
7 | g.151064274C= | CA1752500327 | SLC4A2 | c.124C= (p.Leu42=) c.52-331C= (n.52-331C=) c.97C= (p.Leu33=) c.82C= (p.Leu28=) n.359C= | |
7 | g.151064274C>G | CA370007863 | SLC4A2 | c.124C>G (p.Leu42Val) c.52-331C>G (n.52-331C>G) c.97C>G (p.Leu33Val) c.82C>G (p.Leu28Val) n.359C>G | |
7 | g.151064274C>T | CA458644896 | SLC4A2 | c.124C>T (p.Leu42=) c.52-331C>T (n.52-331C>T) c.97C>T (p.Leu33=) c.82C>T (p.Leu28=) n.359C>T | dbSNP gnomAD v4 |
7 | g.151064275T>A | CA370007866 | SLC4A2 | c.125T>A (p.Leu42Gln) c.52-330T>A (n.52-330T>A) c.98T>A (p.Leu33Gln) c.83T>A (p.Leu28Gln) n.360T>A | |
7 | g.151064275T>C | CA370007865 | SLC4A2 | c.125T>C (p.Leu42Pro) c.52-330T>C (n.52-330T>C) c.98T>C (p.Leu33Pro) c.83T>C (p.Leu28Pro) n.360T>C | |
7 | g.151064275T>G | CA370007864 | SLC4A2 | c.125T>G (p.Leu42Arg) c.52-330T>G (n.52-330T>G) c.98T>G (p.Leu33Arg) c.83T>G (p.Leu28Arg) n.360T>G | |
7 | g.151064276G>A | CA458644898 | SLC4A2 | c.126G>A (p.Leu42=) c.52-329G>A (n.52-329G>A) c.99G>A (p.Leu33=) c.84G>A (p.Leu28=) n.361G>A | gnomAD v4 |
7 | g.151064276G>C | CA458644900 | SLC4A2 | c.126G>C (p.Leu42=) c.52-329G>C (n.52-329G>C) c.99G>C (p.Leu33=) c.84G>C (p.Leu28=) n.361G>C | |
7 | g.151064276G>T | CA458644902 | SLC4A2 | c.126G>T (p.Leu42=) c.52-329G>T (n.52-329G>T) c.99G>T (p.Leu33=) c.84G>T (p.Leu28=) n.361G>T | |
7 | g.151064277G>A | CA370007867 | SLC4A2 | c.127G>A (p.Gly43Ser) c.52-328G>A (n.52-328G>A) c.100G>A (p.Gly34Ser) c.85G>A (p.Gly29Ser) n.362G>A | |
7 | g.151064277G>C | CA370007868 | SLC4A2 | c.127G>C (p.Gly43Arg) c.52-328G>C (n.52-328G>C) c.100G>C (p.Gly34Arg) c.85G>C (p.Gly29Arg) n.362G>C | |
7 | g.151064277G>T | CA370007869 | SLC4A2 | c.127G>T (p.Gly43Cys) c.52-328G>T (n.52-328G>T) c.100G>T (p.Gly34Cys) c.85G>T (p.Gly29Cys) n.362G>T | |
7 | g.151064278G>A | CA370007870 | SLC4A2 | c.128G>A (p.Gly43Asp) c.52-327G>A (n.52-327G>A) c.101G>A (p.Gly34Asp) c.86G>A (p.Gly29Asp) n.363G>A | gnomAD v4 |
7 | g.151064278G>C | CA370007871 | SLC4A2 | c.128G>C (p.Gly43Ala) c.52-327G>C (n.52-327G>C) c.101G>C (p.Gly34Ala) c.86G>C (p.Gly29Ala) n.363G>C | |
7 | g.151064278G>T | CA370007872 | SLC4A2 | c.128G>T (p.Gly43Val) c.52-327G>T (n.52-327G>T) c.101G>T (p.Gly34Val) c.86G>T (p.Gly29Val) n.363G>T | |
7 | g.151064279C>A | CA458644908 | SLC4A2 | c.129C>A (p.Gly43=) c.52-326C>A (n.52-326C>A) c.102C>A (p.Gly34=) c.87C>A (p.Gly29=) n.364C>A | gnomAD v4 |
7 | g.151064279C= | CA1752500328 | SLC4A2 | c.129C= (p.Gly43=) c.52-326C= (n.52-326C=) c.102C= (p.Gly34=) c.87C= (p.Gly29=) n.364C= | |
7 | g.151064279C>G | CA458644910 | SLC4A2 | c.129C>G (p.Gly43=) c.52-326C>G (n.52-326C>G) c.102C>G (p.Gly34=) c.87C>G (p.Gly29=) n.364C>G | |
7 | g.151064279C>T | CA458644909 | SLC4A2 | c.129C>T (p.Gly43=) c.52-326C>T (n.52-326C>T) c.102C>T (p.Gly34=) c.87C>T (p.Gly29=) n.364C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064280G>A | CA4570735 | SLC4A2 | c.130G>A (p.Val44Met) c.52-325G>A (n.52-325G>A) c.103G>A (p.Val35Met) c.88G>A (p.Val30Met) n.365G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064280G>C | CA370007873 | SLC4A2 | c.130G>C (p.Val44Leu) c.52-325G>C (n.52-325G>C) c.103G>C (p.Val35Leu) c.88G>C (p.Val30Leu) n.365G>C | |
7 | g.151064280G= | CA1752500329 | SLC4A2 | c.130G= (p.Val44=) c.52-325G= (n.52-325G=) c.103G= (p.Val35=) c.88G= (p.Val30=) n.365G= | |
7 | g.151064280G>T | CA370007874 | SLC4A2 | c.130G>T (p.Val44Leu) c.52-325G>T (n.52-325G>T) c.103G>T (p.Val35Leu) c.88G>T (p.Val30Leu) n.365G>T | |
7 | g.151064281T>A | CA370007875 | SLC4A2 | c.131T>A (p.Val44Glu) c.52-324T>A (n.52-324T>A) c.104T>A (p.Val35Glu) c.89T>A (p.Val30Glu) n.366T>A | |
7 | g.151064281T>C | CA370007876 | SLC4A2 | c.131T>C (p.Val44Ala) c.52-324T>C (n.52-324T>C) c.104T>C (p.Val35Ala) c.89T>C (p.Val30Ala) n.366T>C | |
7 | g.151064281T>G | CA370007877 | SLC4A2 | c.131T>G (p.Val44Gly) c.52-324T>G (n.52-324T>G) c.104T>G (p.Val35Gly) c.89T>G (p.Val30Gly) n.366T>G | |
7 | g.151064282G>A | CA458644917 | SLC4A2 | c.132G>A (p.Val44=) c.52-323G>A (n.52-323G>A) c.105G>A (p.Val35=) c.90G>A (p.Val30=) n.367G>A | |
7 | g.151064282G>C | CA458644916 | SLC4A2 | c.132G>C (p.Val44=) c.52-323G>C (n.52-323G>C) c.105G>C (p.Val35=) c.90G>C (p.Val30=) n.367G>C | |
7 | g.151064282G>T | CA458644914 | SLC4A2 | c.132G>T (p.Val44=) c.52-323G>T (n.52-323G>T) c.105G>T (p.Val35=) c.90G>T (p.Val30=) n.367G>T | |
7 | g.151064283G>A | CA4570736 | SLC4A2 | c.133G>A (p.Glu45Lys) c.52-322G>A (n.52-322G>A) c.106G>A (p.Glu36Lys) c.91G>A (p.Glu31Lys) n.368G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064283G>C | CA370007879 | SLC4A2 | c.133G>C (p.Glu45Gln) c.52-322G>C (n.52-322G>C) c.106G>C (p.Glu36Gln) c.91G>C (p.Glu31Gln) n.368G>C | |
7 | g.151064283G= | CA1752500330 | SLC4A2 | c.133G= (p.Glu45=) c.52-322G= (n.52-322G=) c.106G= (p.Glu36=) c.91G= (p.Glu31=) n.368G= | |
7 | g.151064283G>T | CA370007878 | SLC4A2 | c.133G>T (p.Glu45Ter) c.52-322G>T (n.52-322G>T) c.106G>T (p.Glu36Ter) c.91G>T (p.Glu31Ter) n.368G>T | |
7 | g.151064284A>C | CA370007880 | SLC4A2 | c.134A>C (p.Glu45Ala) c.52-321A>C (n.52-321A>C) c.107A>C (p.Glu36Ala) c.92A>C (p.Glu31Ala) n.369A>C | |
7 | g.151064284A>G | CA370007881 | SLC4A2 | c.134A>G (p.Glu45Gly) c.52-321A>G (n.52-321A>G) c.107A>G (p.Glu36Gly) c.92A>G (p.Glu31Gly) n.369A>G | |
7 | g.151064284A>T | CA370007882 | SLC4A2 | c.134A>T (p.Glu45Val) c.52-321A>T (n.52-321A>T) c.107A>T (p.Glu36Val) c.92A>T (p.Glu31Val) n.369A>T | |
7 | g.151064285G>A | CA458644919 | SLC4A2 | c.135G>A (p.Glu45=) c.52-320G>A (n.52-320G>A) c.108G>A (p.Glu36=) c.93G>A (p.Glu31=) n.370G>A | |
7 | g.151064285G>C | CA370007883 | SLC4A2 | c.135G>C (p.Glu45Asp) c.52-320G>C (n.52-320G>C) c.108G>C (p.Glu36Asp) c.93G>C (p.Glu31Asp) n.370G>C | |
7 | g.151064285G>T | CA370007884 | SLC4A2 | c.135G>T (p.Glu45Asp) c.52-320G>T (n.52-320G>T) c.108G>T (p.Glu36Asp) c.93G>T (p.Glu31Asp) n.370G>T | |
7 | g.151064286C>A | CA458644921 | SLC4A2 | c.136C>A (p.Arg46=) c.52-319C>A (n.52-319C>A) c.109C>A (p.Arg37=) c.94C>A (p.Arg32=) n.371C>A | |
7 | g.151064286C= | CA1752500331 | SLC4A2 | c.136C= (p.Arg46=) c.52-319C= (n.52-319C=) c.109C= (p.Arg37=) c.94C= (p.Arg32=) n.371C= | |
7 | g.151064286C>G | CA370007885 | SLC4A2 | c.136C>G (p.Arg46Gly) c.52-319C>G (n.52-319C>G) c.109C>G (p.Arg37Gly) c.94C>G (p.Arg32Gly) n.371C>G | |
7 | g.151064286C>T | CA370007886 | SLC4A2 | c.136C>T (p.Arg46Trp) c.52-319C>T (n.52-319C>T) c.109C>T (p.Arg37Trp) c.94C>T (p.Arg32Trp) n.371C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064287G>A | CA370007887 | SLC4A2 | c.137G>A (p.Arg46Gln) c.52-318G>A (n.52-318G>A) c.110G>A (p.Arg37Gln) c.95G>A (p.Arg32Gln) n.372G>A | dbSNP gnomAD v4 |
7 | g.151064287G>C | CA370007888 | SLC4A2 | c.137G>C (p.Arg46Pro) c.52-318G>C (n.52-318G>C) c.110G>C (p.Arg37Pro) c.95G>C (p.Arg32Pro) n.372G>C | |
7 | g.151064287G= | CA1752500332 | SLC4A2 | c.137G= (p.Arg46=) c.52-318G= (n.52-318G=) c.110G= (p.Arg37=) c.95G= (p.Arg32=) n.372G= | |
7 | g.151064287G>T | CA370007889 | SLC4A2 | c.137G>T (p.Arg46Leu) c.52-318G>T (n.52-318G>T) c.110G>T (p.Arg37Leu) c.95G>T (p.Arg32Leu) n.372G>T | |
7 | g.151064288G>A | CA458644922 | SLC4A2 | c.138G>A (p.Arg46=) c.52-317G>A (n.52-317G>A) c.111G>A (p.Arg37=) c.96G>A (p.Arg32=) n.373G>A | |
7 | g.151064288G>C | CA458644924 | SLC4A2 | c.138G>C (p.Arg46=) c.52-317G>C (n.52-317G>C) c.111G>C (p.Arg37=) c.96G>C (p.Arg32=) n.373G>C | |
7 | g.151064288G>T | CA458644925 | SLC4A2 | c.138G>T (p.Arg46=) c.52-317G>T (n.52-317G>T) c.111G>T (p.Arg37=) c.96G>T (p.Arg32=) n.373G>T | |
7 | g.151064289T>A | CA370007890 | SLC4A2 | c.139T>A (p.Phe47Ile) c.52-316T>A (n.52-316T>A) c.112T>A (p.Phe38Ile) c.97T>A (p.Phe33Ile) n.374T>A | |
7 | g.151064289T>C | CA370007891 | SLC4A2 | c.139T>C (p.Phe47Leu) c.52-316T>C (n.52-316T>C) c.112T>C (p.Phe38Leu) c.97T>C (p.Phe33Leu) n.374T>C | |
7 | g.151064289T>G | CA370007892 | SLC4A2 | c.139T>G (p.Phe47Val) c.52-316T>G (n.52-316T>G) c.112T>G (p.Phe38Val) c.97T>G (p.Phe33Val) n.374T>G | |
7 | g.151064290T>A | CA370007895 | SLC4A2 | c.140T>A (p.Phe47Tyr) c.52-315T>A (n.52-315T>A) c.113T>A (p.Phe38Tyr) c.98T>A (p.Phe33Tyr) n.375T>A | |
7 | g.151064290T>C | CA370007894 | SLC4A2 | c.140T>C (p.Phe47Ser) c.52-315T>C (n.52-315T>C) c.113T>C (p.Phe38Ser) c.98T>C (p.Phe33Ser) n.375T>C | |
7 | g.151064290T>G | CA370007893 | SLC4A2 | c.140T>G (p.Phe47Cys) c.52-315T>G (n.52-315T>G) c.113T>G (p.Phe38Cys) c.98T>G (p.Phe33Cys) n.375T>G | |
7 | g.151064291T>A | CA370007896 | SLC4A2 | c.141T>A (p.Phe47Leu) c.52-314T>A (n.52-314T>A) c.114T>A (p.Phe38Leu) c.99T>A (p.Phe33Leu) n.376T>A | |
7 | g.151064291T>C | CA458644928 | SLC4A2 | c.141T>C (p.Phe47=) c.52-314T>C (n.52-314T>C) c.114T>C (p.Phe38=) c.99T>C (p.Phe33=) n.376T>C | |
7 | g.151064291T>G | CA370007897 | SLC4A2 | c.141T>G (p.Phe47Leu) c.52-314T>G (n.52-314T>G) c.114T>G (p.Phe38Leu) c.99T>G (p.Phe33Leu) n.376T>G | |
7 | g.151064292G>A | CA370007898 | SLC4A2 | c.142G>A (p.Glu48Lys) c.52-313G>A (n.52-313G>A) c.115G>A (p.Glu39Lys) c.100G>A (p.Glu34Lys) n.377G>A | |
7 | g.151064292G>C | CA370007899 | SLC4A2 | c.142G>C (p.Glu48Gln) c.52-313G>C (n.52-313G>C) c.115G>C (p.Glu39Gln) c.100G>C (p.Glu34Gln) n.377G>C | gnomAD v4 |
7 | g.151064292G>T | CA370007900 | SLC4A2 | c.142G>T (p.Glu48Ter) c.52-313G>T (n.52-313G>T) c.115G>T (p.Glu39Ter) c.100G>T (p.Glu34Ter) n.377G>T | |
7 | g.151064293A>C | CA370007901 | SLC4A2 | c.143A>C (p.Glu48Ala) c.52-312A>C (n.52-312A>C) c.116A>C (p.Glu39Ala) c.101A>C (p.Glu34Ala) n.378A>C | |
7 | g.151064293A>G | CA370007902 | SLC4A2 | c.143A>G (p.Glu48Gly) c.52-312A>G (n.52-312A>G) c.116A>G (p.Glu39Gly) c.101A>G (p.Glu34Gly) n.378A>G | |
7 | g.151064293A>T | CA370007903 | SLC4A2 | c.143A>T (p.Glu48Val) c.52-312A>T (n.52-312A>T) c.116A>T (p.Glu39Val) c.101A>T (p.Glu34Val) n.378A>T | |
7 | g.151064294G>A | CA458644934 | SLC4A2 | c.144G>A (p.Glu48=) c.52-311G>A (n.52-311G>A) c.117G>A (p.Glu39=) c.102G>A (p.Glu34=) n.379G>A | |
7 | g.151064294G>C | CA370007904 | SLC4A2 | c.144G>C (p.Glu48Asp) c.52-311G>C (n.52-311G>C) c.117G>C (p.Glu39Asp) c.102G>C (p.Glu34Asp) n.379G>C | |
7 | g.151064294G>T | CA370007905 | SLC4A2 | c.144G>T (p.Glu48Asp) c.52-311G>T (n.52-311G>T) c.117G>T (p.Glu39Asp) c.102G>T (p.Glu34Asp) n.379G>T | |
7 | g.151064295G>A | CA370007906 | SLC4A2 | c.145G>A (p.Glu49Lys) c.52-310G>A (n.52-310G>A) c.118G>A (p.Glu40Lys) c.103G>A (p.Glu35Lys) n.380G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064295G>C | CA370007907 | SLC4A2 | c.145G>C (p.Glu49Gln) c.52-310G>C (n.52-310G>C) c.118G>C (p.Glu40Gln) c.103G>C (p.Glu35Gln) n.380G>C | |
7 | g.151064295G= | CA1752500333 | SLC4A2 | c.145G= (p.Glu49=) c.52-310G= (n.52-310G=) c.118G= (p.Glu40=) c.103G= (p.Glu35=) n.380G= | |
7 | g.151064295G>T | CA370007908 | SLC4A2 | c.145G>T (p.Glu49Ter) c.52-310G>T (n.52-310G>T) c.118G>T (p.Glu40Ter) c.103G>T (p.Glu35Ter) n.380G>T | |
7 | g.151064296A= | CA1752500334 | SLC4A2 | c.146A= (p.Glu49=) c.52-309A= (n.52-309A=) c.119A= (p.Glu40=) c.104A= (p.Glu35=) n.381A= | |
7 | g.151064296A>C | CA370007910 | SLC4A2 | c.146A>C (p.Glu49Ala) c.52-309A>C (n.52-309A>C) c.119A>C (p.Glu40Ala) c.104A>C (p.Glu35Ala) n.381A>C | |
7 | g.151064296A>G | CA4570737 | SLC4A2 | c.146A>G (p.Glu49Gly) c.52-309A>G (n.52-309A>G) c.119A>G (p.Glu40Gly) c.104A>G (p.Glu35Gly) n.381A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064296A>T | CA370007909 | SLC4A2 | c.146A>T (p.Glu49Val) c.52-309A>T (n.52-309A>T) c.119A>T (p.Glu40Val) c.104A>T (p.Glu35Val) n.381A>T | |
7 | g.151064297G>A | CA458644938 | SLC4A2 | c.147G>A (p.Glu49=) c.52-308G>A (n.52-308G>A) c.120G>A (p.Glu40=) c.105G>A (p.Glu35=) n.382G>A | |
7 | g.151064297G>C | CA370007912 | SLC4A2 | c.147G>C (p.Glu49Asp) c.52-308G>C (n.52-308G>C) c.120G>C (p.Glu40Asp) c.105G>C (p.Glu35Asp) n.382G>C | |
7 | g.151064297G>T | CA370007911 | SLC4A2 | c.147G>T (p.Glu49Asp) c.52-308G>T (n.52-308G>T) c.120G>T (p.Glu40Asp) c.105G>T (p.Glu35Asp) n.382G>T | |
7 | g.151064298A>C | CA370007915 | SLC4A2 | c.148A>C (p.Ile50Leu) c.52-307A>C (n.52-307A>C) c.121A>C (p.Ile41Leu) c.106A>C (p.Ile36Leu) n.383A>C | |
7 | g.151064298A>G | CA370007913 | SLC4A2 | c.148A>G (p.Ile50Val) c.52-307A>G (n.52-307A>G) c.121A>G (p.Ile41Val) c.106A>G (p.Ile36Val) n.383A>G | |
7 | g.151064298A>T | CA370007914 | SLC4A2 | c.148A>T (p.Ile50Phe) c.52-307A>T (n.52-307A>T) c.121A>T (p.Ile41Phe) c.106A>T (p.Ile36Phe) n.383A>T | |
7 | g.151064299T>A | CA370007916 | SLC4A2 | c.149T>A (p.Ile50Asn) c.52-306T>A (n.52-306T>A) c.122T>A (p.Ile41Asn) c.107T>A (p.Ile36Asn) n.384T>A | |
7 | g.151064299T>C | CA370007917 | SLC4A2 | c.149T>C (p.Ile50Thr) c.52-306T>C (n.52-306T>C) c.122T>C (p.Ile41Thr) c.107T>C (p.Ile36Thr) n.384T>C | |
7 | g.151064299T>G | CA370007918 | SLC4A2 | c.149T>G (p.Ile50Ser) c.52-306T>G (n.52-306T>G) c.122T>G (p.Ile41Ser) c.107T>G (p.Ile36Ser) n.384T>G | |
7 | g.151064300C>A | CA4570738 | SLC4A2 | c.150C>A (p.Ile50=) c.52-305C>A (n.52-305C>A) c.123C>A (p.Ile41=) c.108C>A (p.Ile36=) n.385C>A | dbSNP ExAC gnomAD v2 |
7 | g.151064300C= | CA1752500335 | SLC4A2 | c.150C= (p.Ile50=) c.52-305C= (n.52-305C=) c.123C= (p.Ile41=) c.108C= (p.Ile36=) n.385C= | |
7 | g.151064300C>G | CA370007919 | SLC4A2 | c.150C>G (p.Ile50Met) c.52-305C>G (n.52-305C>G) c.123C>G (p.Ile41Met) c.108C>G (p.Ile36Met) n.385C>G | |
7 | g.151064300C>T | CA458644943 | SLC4A2 | c.150C>T (p.Ile50=) c.52-305C>T (n.52-305C>T) c.123C>T (p.Ile41=) c.108C>T (p.Ile36=) n.385C>T | |
7 | g.151064301C>A | CA370007920 | SLC4A2 | c.151C>A (p.Leu51Ile) c.52-304C>A (n.52-304C>A) c.124C>A (p.Leu42Ile) c.109C>A (p.Leu37Ile) n.386C>A | |
7 | g.151064301C>G | CA370007921 | SLC4A2 | c.151C>G (p.Leu51Val) c.52-304C>G (n.52-304C>G) c.124C>G (p.Leu42Val) c.109C>G (p.Leu37Val) n.386C>G | |
7 | g.151064301C>T | CA458644944 | SLC4A2 | c.151C>T (p.Leu51=) c.52-304C>T (n.52-304C>T) c.124C>T (p.Leu42=) c.109C>T (p.Leu37=) n.386C>T | |
7 | g.151064302T>A | CA370007922 | SLC4A2 | c.152T>A (p.Leu51Gln) c.52-303T>A (n.52-303T>A) c.125T>A (p.Leu42Gln) c.110T>A (p.Leu37Gln) n.387T>A | |
7 | g.151064302T>C | CA370007923 | SLC4A2 | c.152T>C (p.Leu51Pro) c.52-303T>C (n.52-303T>C) c.125T>C (p.Leu42Pro) c.110T>C (p.Leu37Pro) n.387T>C | |
7 | g.151064302T>G | CA370007924 | SLC4A2 | c.152T>G (p.Leu51Arg) c.52-303T>G (n.52-303T>G) c.125T>G (p.Leu42Arg) c.110T>G (p.Leu37Arg) n.387T>G | |
7 | g.151064303A>C | CA458644945 | SLC4A2 | c.153A>C (p.Leu51=) c.52-302A>C (n.52-302A>C) c.126A>C (p.Leu42=) c.111A>C (p.Leu37=) n.388A>C | |
7 | g.151064303A>G | CA458644947 | SLC4A2 | c.153A>G (p.Leu51=) c.52-302A>G (n.52-302A>G) c.126A>G (p.Leu42=) c.111A>G (p.Leu37=) n.388A>G | gnomAD v4 |
7 | g.151064303A>T | CA458644948 | SLC4A2 | c.153A>T (p.Leu51=) c.52-302A>T (n.52-302A>T) c.126A>T (p.Leu42=) c.111A>T (p.Leu37=) n.388A>T | |
7 | g.151064304C>A | CA370007927 | SLC4A2 | c.154C>A (p.Gln52Lys) c.52-301C>A (n.52-301C>A) c.127C>A (p.Gln43Lys) c.112C>A (p.Gln38Lys) n.389C>A | |
7 | g.151064304C>G | CA370007925 | SLC4A2 | c.154C>G (p.Gln52Glu) c.52-301C>G (n.52-301C>G) c.127C>G (p.Gln43Glu) c.112C>G (p.Gln38Glu) n.389C>G | |
7 | g.151064304C>T | CA370007926 | SLC4A2 | c.154C>T (p.Gln52Ter) c.52-301C>T (n.52-301C>T) c.127C>T (p.Gln43Ter) c.112C>T (p.Gln38Ter) n.389C>T | |
7 | g.151064305A= | CA1752500336 | SLC4A2 | c.155A= (p.Gln52=) c.52-300A= (n.52-300A=) c.128A= (p.Gln43=) c.113A= (p.Gln38=) n.390A= | |
7 | g.151064305A>C | CA370007928 | SLC4A2 | c.155A>C (p.Gln52Pro) c.52-300A>C (n.52-300A>C) c.128A>C (p.Gln43Pro) c.113A>C (p.Gln38Pro) n.390A>C | |
7 | g.151064305A>G | CA4570739 | SLC4A2 | c.155A>G (p.Gln52Arg) c.52-300A>G (n.52-300A>G) c.128A>G (p.Gln43Arg) c.113A>G (p.Gln38Arg) n.390A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064305A>T | CA370007929 | SLC4A2 | c.155A>T (p.Gln52Leu) c.52-300A>T (n.52-300A>T) c.128A>T (p.Gln43Leu) c.113A>T (p.Gln38Leu) n.390A>T | |
7 | g.151064306G>A | CA458875849 | SLC4A2 | c.156G>A (p.Gln52=) c.52-299G>A (n.52-299G>A) c.129G>A (p.Gln43=) c.114G>A (p.Gln38=) n.391G>A | |
7 | g.151064306G>C | CA370007930 | SLC4A2 | c.156G>C (p.Gln52His) c.52-299G>C (n.52-299G>C) c.129G>C (p.Gln43His) c.114G>C (p.Gln38His) n.391G>C | |
7 | g.151064306G>T | CA370007931 | SLC4A2 | c.156G>T (p.Gln52His) c.52-299G>T (n.52-299G>T) c.129G>T (p.Gln43His) c.114G>T (p.Gln38His) n.391G>T | |
7 | g.151064307G>A | CA169084114 | SLC4A2 | c.157G>A (p.Glu53Lys) c.52-298G>A (n.52-298G>A) c.130G>A (p.Glu44Lys) c.115G>A (p.Glu39Lys) n.392G>A | dbSNP |
7 | g.151064307G>C | CA370007932 | SLC4A2 | c.157G>C (p.Glu53Gln) c.52-298G>C (n.52-298G>C) c.130G>C (p.Glu44Gln) c.115G>C (p.Glu39Gln) n.392G>C | |
7 | g.151064307G= | CA1752500337 | SLC4A2 | c.157G= (p.Glu53=) c.52-298G= (n.52-298G=) c.130G= (p.Glu44=) c.115G= (p.Glu39=) n.392G= | |
7 | g.151064307G>T | CA370007933 | SLC4A2 | c.157G>T (p.Glu53Ter) c.52-298G>T (n.52-298G>T) c.130G>T (p.Glu44Ter) c.115G>T (p.Glu39Ter) n.392G>T | |
7 | g.151064308A>C | CA370007934 | SLC4A2 | c.158A>C (p.Glu53Ala) c.52-297A>C (n.52-297A>C) c.131A>C (p.Glu44Ala) c.116A>C (p.Glu39Ala) n.393A>C | |
7 | g.151064308A>G | CA370007935 | SLC4A2 | c.158A>G (p.Glu53Gly) c.52-297A>G (n.52-297A>G) c.131A>G (p.Glu44Gly) c.116A>G (p.Glu39Gly) n.393A>G | |
7 | g.151064308A>T | CA370007936 | SLC4A2 | c.158A>T (p.Glu53Val) c.52-297A>T (n.52-297A>T) c.131A>T (p.Glu44Val) c.116A>T (p.Glu39Val) n.393A>T | |
7 | g.151064309G>A | CA4570740 | SLC4A2 | c.159G>A (p.Glu53=) c.52-296G>A (n.52-296G>A) c.132G>A (p.Glu44=) c.117G>A (p.Glu39=) n.394G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064309G>C | CA370007938 | SLC4A2 | c.159G>C (p.Glu53Asp) c.52-296G>C (n.52-296G>C) c.132G>C (p.Glu44Asp) c.117G>C (p.Glu39Asp) n.394G>C | |
7 | g.151064309G= | CA1752500338 | SLC4A2 | c.159G= (p.Glu53=) c.52-296G= (n.52-296G=) c.132G= (p.Glu44=) c.117G= (p.Glu39=) n.394G= | |
7 | g.151064309G>T | CA370007937 | SLC4A2 | c.159G>T (p.Glu53Asp) c.52-296G>T (n.52-296G>T) c.132G>T (p.Glu44Asp) c.117G>T (p.Glu39Asp) n.394G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064310G>A | CA370007939 | SLC4A2 | c.160G>A (p.Ala54Thr) c.52-295G>A (n.52-295G>A) c.133G>A (p.Ala45Thr) c.118G>A (p.Ala40Thr) n.395G>A | gnomAD v4 |
7 | g.151064310G>C | CA370007940 | SLC4A2 | c.160G>C (p.Ala54Pro) c.52-295G>C (n.52-295G>C) c.133G>C (p.Ala45Pro) c.118G>C (p.Ala40Pro) n.395G>C | |
7 | g.151064310G>T | CA370007941 | SLC4A2 | c.160G>T (p.Ala54Ser) c.52-295G>T (n.52-295G>T) c.133G>T (p.Ala45Ser) c.118G>T (p.Ala40Ser) n.395G>T | gnomAD v4 |
7 | g.151064311C>A | CA370007942 | SLC4A2 | c.161C>A (p.Ala54Asp) c.52-294C>A (n.52-294C>A) c.134C>A (p.Ala45Asp) c.119C>A (p.Ala40Asp) n.396C>A | |
7 | g.151064311C>G | CA370007943 | SLC4A2 | c.161C>G (p.Ala54Gly) c.52-294C>G (n.52-294C>G) c.134C>G (p.Ala45Gly) c.119C>G (p.Ala40Gly) n.396C>G | |
7 | g.151064311C>T | CA370007944 | SLC4A2 | c.161C>T (p.Ala54Val) c.52-294C>T (n.52-294C>T) c.134C>T (p.Ala45Val) c.119C>T (p.Ala40Val) n.396C>T | |
7 | g.151064312C>A | CA458875850 | SLC4A2 | c.162C>A (p.Ala54=) c.52-293C>A (n.52-293C>A) c.135C>A (p.Ala45=) c.120C>A (p.Ala40=) n.397C>A | |
7 | g.151064312C= | CA1752500339 | SLC4A2 | c.162C= (p.Ala54=) c.52-293C= (n.52-293C=) c.135C= (p.Ala45=) c.120C= (p.Ala40=) n.397C= | |
7 | g.151064312C>G | CA458875851 | SLC4A2 | c.162C>G (p.Ala54=) c.52-293C>G (n.52-293C>G) c.135C>G (p.Ala45=) c.120C>G (p.Ala40=) n.397C>G | gnomAD v4 |
7 | g.151064312C>T | CA4570741 | SLC4A2 | c.162C>T (p.Ala54=) c.52-293C>T (n.52-293C>T) c.135C>T (p.Ala45=) c.120C>T (p.Ala40=) n.397C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.151064313G>A | CA370007945 | SLC4A2 | c.163G>A (p.Gly55Arg) c.52-292G>A (n.52-292G>A) c.136G>A (p.Gly46Arg) c.121G>A (p.Gly41Arg) n.398G>A | dbSNP gnomAD v4 |
7 | g.151064313G>C | CA370007946 | SLC4A2 | c.163G>C (p.Gly55Arg) c.52-292G>C (n.52-292G>C) c.136G>C (p.Gly46Arg) c.121G>C (p.Gly41Arg) n.398G>C | |
7 | g.151064313G= | CA1752500340 | SLC4A2 | c.163G= (p.Gly55=) c.52-292G= (n.52-292G=) c.136G= (p.Gly46=) c.121G= (p.Gly41=) n.398G= | |
7 | g.151064313G>T | CA370007947 | SLC4A2 | c.163G>T (p.Gly55Trp) c.52-292G>T (n.52-292G>T) c.136G>T (p.Gly46Trp) c.121G>T (p.Gly41Trp) n.398G>T | |
7 | g.151064314G>A | CA370007948 | SLC4A2 | c.164G>A (p.Gly55Glu) c.52-291G>A (n.52-291G>A) c.137G>A (p.Gly46Glu) c.122G>A (p.Gly41Glu) n.399G>A | |
7 | g.151064314G>C | CA370007949 | SLC4A2 | c.164G>C (p.Gly55Ala) c.52-291G>C (n.52-291G>C) c.137G>C (p.Gly46Ala) c.122G>C (p.Gly41Ala) n.399G>C | |
7 | g.151064314G>T | CA370007950 | SLC4A2 | c.164G>T (p.Gly55Val) c.52-291G>T (n.52-291G>T) c.137G>T (p.Gly46Val) c.122G>T (p.Gly41Val) n.399G>T | |
7 | g.151064315G>A | CA169084124 | SLC4A2 | c.165G>A (p.Gly55=) c.52-290G>A (n.52-290G>A) c.138G>A (p.Gly46=) c.123G>A (p.Gly41=) n.400G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064315G>C | CA458875852 | SLC4A2 | c.165G>C (p.Gly55=) c.52-290G>C (n.52-290G>C) c.138G>C (p.Gly46=) c.123G>C (p.Gly41=) n.400G>C | |
7 | g.151064315G= | CA1752500341 | SLC4A2 | c.165G= (p.Gly55=) c.52-290G= (n.52-290G=) c.138G= (p.Gly46=) c.123G= (p.Gly41=) n.400G= | |
7 | g.151064315G>T | CA458875853 | SLC4A2 | c.165G>T (p.Gly55=) c.52-290G>T (n.52-290G>T) c.138G>T (p.Gly46=) c.123G>T (p.Gly41=) n.400G>T | |
7 | g.151064316T>A | CA370007953 | SLC4A2 | c.166T>A (p.Ser56Thr) c.52-289T>A (n.52-289T>A) c.139T>A (p.Ser47Thr) c.124T>A (p.Ser42Thr) n.401T>A | |
7 | g.151064316T>C | CA370007951 | SLC4A2 | c.166T>C (p.Ser56Pro) c.52-289T>C (n.52-289T>C) c.139T>C (p.Ser47Pro) c.124T>C (p.Ser42Pro) n.401T>C | |
7 | g.151064316T>G | CA370007952 | SLC4A2 | c.166T>G (p.Ser56Ala) c.52-289T>G (n.52-289T>G) c.139T>G (p.Ser47Ala) c.124T>G (p.Ser42Ala) n.401T>G | |
7 | g.151064317C>A | CA370007954 | SLC4A2 | c.167C>A (p.Ser56Tyr) c.52-288C>A (n.52-288C>A) c.140C>A (p.Ser47Tyr) c.125C>A (p.Ser42Tyr) n.402C>A | dbSNP gnomAD v2 |
7 | g.151064317C= | CA1752500342 | SLC4A2 | c.167C= (p.Ser56=) c.52-288C= (n.52-288C=) c.140C= (p.Ser47=) c.125C= (p.Ser42=) n.402C= | |
7 | g.151064317C>G | CA370007955 | SLC4A2 | c.167C>G (p.Ser56Cys) c.52-288C>G (n.52-288C>G) c.140C>G (p.Ser47Cys) c.125C>G (p.Ser42Cys) n.402C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064317C>T | CA370007956 | SLC4A2 | c.167C>T (p.Ser56Phe) c.52-288C>T (n.52-288C>T) c.140C>T (p.Ser47Phe) c.125C>T (p.Ser42Phe) n.402C>T | |
7 | g.151064318T>A | CA458875854 | SLC4A2 | c.168T>A (p.Ser56=) c.52-287T>A (n.52-287T>A) c.141T>A (p.Ser47=) c.126T>A (p.Ser42=) n.403T>A | |
7 | g.151064318T>C | CA458875855 | SLC4A2 | c.168T>C (p.Ser56=) c.52-287T>C (n.52-287T>C) c.141T>C (p.Ser47=) c.126T>C (p.Ser42=) n.403T>C | |
7 | g.151064318T>G | CA458875856 | SLC4A2 | c.168T>G (p.Ser56=) c.52-287T>G (n.52-287T>G) c.141T>G (p.Ser47=) c.126T>G (p.Ser42=) n.403T>G | |
7 | g.151064319C>A | CA370007957 | SLC4A2 | c.169C>A (p.Arg57Ser) c.52-286C>A (n.52-286C>A) c.142C>A (p.Arg48Ser) c.127C>A (p.Arg43Ser) n.404C>A | |
7 | g.151064319C= | CA1752500343 | SLC4A2 | c.169C= (p.Arg57=) c.52-286C= (n.52-286C=) c.142C= (p.Arg48=) c.127C= (p.Arg43=) n.404C= | |
7 | g.151064319C>G | CA370007958 | SLC4A2 | c.169C>G (p.Arg57Gly) c.52-286C>G (n.52-286C>G) c.142C>G (p.Arg48Gly) c.127C>G (p.Arg43Gly) n.404C>G | |
7 | g.151064319C>T | CA4570742 | SLC4A2 | c.169C>T (p.Arg57Cys) c.52-286C>T (n.52-286C>T) c.142C>T (p.Arg48Cys) c.127C>T (p.Arg43Cys) n.404C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.151064320G>A | CA4570743 | SLC4A2 | c.170G>A (p.Arg57His) c.52-285G>A (n.52-285G>A) c.143G>A (p.Arg48His) c.128G>A (p.Arg43His) n.405G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.151064320G>C | CA370007959 | SLC4A2 | c.170G>C (p.Arg57Pro) c.52-285G>C (n.52-285G>C) c.143G>C (p.Arg48Pro) c.128G>C (p.Arg43Pro) n.405G>C | |
7 | g.151064320G= | CA1752500344 | SLC4A2 | c.170G= (p.Arg57=) c.52-285G= (n.52-285G=) c.143G= (p.Arg48=) c.128G= (p.Arg43=) n.405G= | |
7 | g.151064320G>T | CA370007960 | SLC4A2 | c.170G>T (p.Arg57Leu) c.52-285G>T (n.52-285G>T) c.143G>T (p.Arg48Leu) c.128G>T (p.Arg43Leu) n.405G>T | gnomAD v4 |
7 | g.151064321T>A | CA458875858 | SLC4A2 | c.171T>A (p.Arg57=) c.52-284T>A (n.52-284T>A) c.144T>A (p.Arg48=) c.129T>A (p.Arg43=) n.406T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064321T>C | CA458875859 | SLC4A2 | c.171T>C (p.Arg57=) c.52-284T>C (n.52-284T>C) c.144T>C (p.Arg48=) c.129T>C (p.Arg43=) n.406T>C | gnomAD v4 |
7 | g.151064321T>G | CA458875857 | SLC4A2 | c.171T>G (p.Arg57=) c.52-284T>G (n.52-284T>G) c.144T>G (p.Arg48=) c.129T>G (p.Arg43=) n.406T>G | |
7 | g.151064321T= | CA1752500345 | SLC4A2 | c.171T= (p.Arg57=) c.52-284T= (n.52-284T=) c.144T= (p.Arg48=) c.129T= (p.Arg43=) n.406T= | |
7 | g.151064322G>A | CA370007961 | SLC4A2 | c.172G>A (p.Gly58Arg) c.52-283G>A (n.52-283G>A) c.145G>A (p.Gly49Arg) c.130G>A (p.Gly44Arg) n.407G>A | |
7 | g.151064322G>C | CA370007962 | SLC4A2 | c.172G>C (p.Gly58Arg) c.52-283G>C (n.52-283G>C) c.145G>C (p.Gly49Arg) c.130G>C (p.Gly44Arg) n.407G>C | |
7 | g.151064322G>T | CA370007963 | SLC4A2 | c.172G>T (p.Gly58Ter) c.52-283G>T (n.52-283G>T) c.145G>T (p.Gly49Ter) c.130G>T (p.Gly44Ter) n.407G>T | |
7 | g.151064323G>A | CA370007965 | SLC4A2 | c.173G>A (p.Gly58Glu) c.52-282G>A (n.52-282G>A) c.146G>A (p.Gly49Glu) c.131G>A (p.Gly44Glu) n.408G>A | |
7 | g.151064323G>C | CA370007966 | SLC4A2 | c.173G>C (p.Gly58Ala) c.52-282G>C (n.52-282G>C) c.146G>C (p.Gly49Ala) c.131G>C (p.Gly44Ala) n.408G>C | |
7 | g.151064323G>T | CA370007964 | SLC4A2 | c.173G>T (p.Gly58Val) c.52-282G>T (n.52-282G>T) c.146G>T (p.Gly49Val) c.131G>T (p.Gly44Val) n.408G>T | |
7 | g.151064324A>C | CA458875862 | SLC4A2 | c.174A>C (p.Gly58=) c.52-281A>C (n.52-281A>C) c.147A>C (p.Gly49=) c.132A>C (p.Gly44=) n.409A>C | |
7 | g.151064324A>G | CA458875860 | SLC4A2 | c.174A>G (p.Gly58=) c.52-281A>G (n.52-281A>G) c.147A>G (p.Gly49=) c.132A>G (p.Gly44=) n.409A>G | |
7 | g.151064324A>T | CA458875861 | SLC4A2 | c.174A>T (p.Gly58=) c.52-281A>T (n.52-281A>T) c.147A>T (p.Gly49=) c.132A>T (p.Gly44=) n.409A>T | |
7 | g.151064325G>A | CA4570744 | SLC4A2 | c.175G>A (p.Gly59Arg) c.52-280G>A (n.52-280G>A) c.148G>A (p.Gly50Arg) c.133G>A (p.Gly45Arg) n.410G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064325G>C | CA370007967 | SLC4A2 | c.175G>C (p.Gly59Arg) c.52-280G>C (n.52-280G>C) c.148G>C (p.Gly50Arg) c.133G>C (p.Gly45Arg) n.410G>C | |
7 | g.151064325G= | CA1752500346 | SLC4A2 | c.175G= (p.Gly59=) c.52-280G= (n.52-280G=) c.148G= (p.Gly50=) c.133G= (p.Gly45=) n.410G= | |
7 | g.151064325G>T | CA370007968 | SLC4A2 | c.175G>T (p.Gly59Trp) c.52-280G>T (n.52-280G>T) c.148G>T (p.Gly50Trp) c.133G>T (p.Gly45Trp) n.410G>T | |
7 | g.151064326_151064328del | CA2579064980 | SLC4A2 | c.176_178del (p.Gly59del) c.52-279_52-277del (n.52-279_52-277del) c.149_151del (p.Gly50del) c.134_136del (p.Gly45del) n.411_413del | |
7 | g.151064326G>A | CA370007969 | SLC4A2 | c.176G>A (p.Gly59Glu) c.52-279G>A (n.52-279G>A) c.149G>A (p.Gly50Glu) c.134G>A (p.Gly45Glu) n.411G>A | |
7 | g.151064326G>C | CA370007970 | SLC4A2 | c.176G>C (p.Gly59Ala) c.52-279G>C (n.52-279G>C) c.149G>C (p.Gly50Ala) c.134G>C (p.Gly45Ala) n.411G>C | |
7 | g.151064326G>T | CA370007971 | SLC4A2 | c.176G>T (p.Gly59Val) c.52-279G>T (n.52-279G>T) c.149G>T (p.Gly50Val) c.134G>T (p.Gly45Val) n.411G>T | |
7 | g.151064327G>A | CA458875863 | SLC4A2 | c.177G>A (p.Gly59=) c.52-278G>A (n.52-278G>A) c.150G>A (p.Gly50=) c.135G>A (p.Gly45=) n.412G>A | |
7 | g.151064327G>C | CA458875865 | SLC4A2 | c.177G>C (p.Gly59=) c.52-278G>C (n.52-278G>C) c.150G>C (p.Gly50=) c.135G>C (p.Gly45=) n.412G>C | |
7 | g.151064327G>T | CA458875864 | SLC4A2 | c.177G>T (p.Gly59=) c.52-278G>T (n.52-278G>T) c.150G>T (p.Gly50=) c.135G>T (p.Gly45=) n.412G>T | |
7 | g.151064328G>A | CA370007972 | SLC4A2 | c.178G>A (p.Glu60Lys) c.52-277G>A (n.52-277G>A) c.151G>A (p.Glu51Lys) c.136G>A (p.Glu46Lys) n.413G>A | COSMIC |
7 | g.151064328G>C | CA370007973 | SLC4A2 | c.178G>C (p.Glu60Gln) c.52-277G>C (n.52-277G>C) c.151G>C (p.Glu51Gln) c.136G>C (p.Glu46Gln) n.413G>C | |
7 | g.151064328G>T | CA370007974 | SLC4A2 | c.178G>T (p.Glu60Ter) c.52-277G>T (n.52-277G>T) c.151G>T (p.Glu51Ter) c.136G>T (p.Glu46Ter) n.413G>T | |
7 | g.151064329A>C | CA370007975 | SLC4A2 | c.179A>C (p.Glu60Ala) c.52-276A>C (n.52-276A>C) c.152A>C (p.Glu51Ala) c.137A>C (p.Glu46Ala) n.414A>C | |
7 | g.151064329A>G | CA370007976 | SLC4A2 | c.179A>G (p.Glu60Gly) c.52-276A>G (n.52-276A>G) c.152A>G (p.Glu51Gly) c.137A>G (p.Glu46Gly) n.414A>G | |
7 | g.151064329A>T | CA370007977 | SLC4A2 | c.179A>T (p.Glu60Val) c.52-276A>T (n.52-276A>T) c.152A>T (p.Glu51Val) c.137A>T (p.Glu46Val) n.414A>T | |
7 | g.151064330G>A | CA458875866 | SLC4A2 | c.180G>A (p.Glu60=) c.52-275G>A (n.52-275G>A) c.153G>A (p.Glu51=) c.138G>A (p.Glu46=) n.415G>A | |
7 | g.151064330G>C | CA370007978 | SLC4A2 | c.180G>C (p.Glu60Asp) c.52-275G>C (n.52-275G>C) c.153G>C (p.Glu51Asp) c.138G>C (p.Glu46Asp) n.415G>C | |
7 | g.151064330G>T | CA370007979 | SLC4A2 | c.180G>T (p.Glu60Asp) c.52-275G>T (n.52-275G>T) c.153G>T (p.Glu51Asp) c.138G>T (p.Glu46Asp) n.415G>T | |
7 | g.151064331G>A | CA370007980 | SLC4A2 | c.181G>A (p.Glu61Lys) c.52-274G>A (n.52-274G>A) c.154G>A (p.Glu52Lys) c.139G>A (p.Glu47Lys) n.416G>A | |
7 | g.151064331G>C | CA370007982 | SLC4A2 | c.181G>C (p.Glu61Gln) c.52-274G>C (n.52-274G>C) c.154G>C (p.Glu52Gln) c.139G>C (p.Glu47Gln) n.416G>C | |
7 | g.151064331G>T | CA370007981 | SLC4A2 | c.181G>T (p.Glu61Ter) c.52-274G>T (n.52-274G>T) c.154G>T (p.Glu52Ter) c.139G>T (p.Glu47Ter) n.416G>T | |
7 | g.151064332A>C | CA370007983 | SLC4A2 | c.182A>C (p.Glu61Ala) c.52-273A>C (n.52-273A>C) c.155A>C (p.Glu52Ala) c.140A>C (p.Glu47Ala) n.417A>C | |
7 | g.151064332A>G | CA370007984 | SLC4A2 | c.182A>G (p.Glu61Gly) c.52-273A>G (n.52-273A>G) c.155A>G (p.Glu52Gly) c.140A>G (p.Glu47Gly) n.417A>G | |
7 | g.151064332A>T | CA370007985 | SLC4A2 | c.182A>T (p.Glu61Val) c.52-273A>T (n.52-273A>T) c.155A>T (p.Glu52Val) c.140A>T (p.Glu47Val) n.417A>T | |
7 | g.151064333G>A | CA458875867 | SLC4A2 | c.183G>A (p.Glu61=) c.52-272G>A (n.52-272G>A) c.156G>A (p.Glu52=) c.141G>A (p.Glu47=) n.418G>A | gnomAD v4 |
7 | g.151064333G>C | CA370007986 | SLC4A2 | c.183G>C (p.Glu61Asp) c.52-272G>C (n.52-272G>C) c.156G>C (p.Glu52Asp) c.141G>C (p.Glu47Asp) n.418G>C | |
7 | g.151064333G>T | CA370007987 | SLC4A2 | c.183G>T (p.Glu61Asp) c.52-272G>T (n.52-272G>T) c.156G>T (p.Glu52Asp) c.141G>T (p.Glu47Asp) n.418G>T | |
7 | g.151064334C>A | CA370007988 | SLC4A2 | c.184C>A (p.Pro62Thr) c.52-271C>A (n.52-271C>A) c.157C>A (p.Pro53Thr) c.142C>A (p.Pro48Thr) n.419C>A | |
7 | g.151064334C>G | CA370007989 | SLC4A2 | c.184C>G (p.Pro62Ala) c.52-271C>G (n.52-271C>G) c.157C>G (p.Pro53Ala) c.142C>G (p.Pro48Ala) n.419C>G | |
7 | g.151064334C>T | CA370007990 | SLC4A2 | c.184C>T (p.Pro62Ser) c.52-271C>T (n.52-271C>T) c.157C>T (p.Pro53Ser) c.142C>T (p.Pro48Ser) n.419C>T | gnomAD v4 |
7 | g.151064335C>A | CA370007991 | SLC4A2 | c.185C>A (p.Pro62Gln) c.52-270C>A (n.52-270C>A) c.158C>A (p.Pro53Gln) c.143C>A (p.Pro48Gln) n.420C>A | |
7 | g.151064335C>G | CA370007992 | SLC4A2 | c.185C>G (p.Pro62Arg) c.52-270C>G (n.52-270C>G) c.158C>G (p.Pro53Arg) c.143C>G (p.Pro48Arg) n.420C>G | |
7 | g.151064335C>T | CA370007993 | SLC4A2 | c.185C>T (p.Pro62Leu) c.52-270C>T (n.52-270C>T) c.158C>T (p.Pro53Leu) c.143C>T (p.Pro48Leu) n.420C>T | COSMIC |