Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
7 | g.151064336A>C | CA458875868 | SLC4A2 | c.186A>C (p.Pro62=) c.52-269A>C (n.52-269A>C) c.159A>C (p.Pro53=) c.144A>C (p.Pro48=) n.421A>C | gnomAD v4 |
7 | g.151064336A>G | CA458875869 | SLC4A2 | c.186A>G (p.Pro62=) c.52-269A>G (n.52-269A>G) c.159A>G (p.Pro53=) c.144A>G (p.Pro48=) n.421A>G | |
7 | g.151064336A>T | CA458875870 | SLC4A2 | c.186A>T (p.Pro62=) c.52-269A>T (n.52-269A>T) c.159A>T (p.Pro53=) c.144A>T (p.Pro48=) n.421A>T | |
7 | g.151064337G>A | CA370007995 | SLC4A2 | c.187G>A (p.Gly63Ser) c.52-268G>A (n.52-268G>A) c.160G>A (p.Gly54Ser) c.145G>A (p.Gly49Ser) n.422G>A | gnomAD v4 |
7 | g.151064337G>C | CA370007996 | SLC4A2 | c.187G>C (p.Gly63Arg) c.52-268G>C (n.52-268G>C) c.160G>C (p.Gly54Arg) c.145G>C (p.Gly49Arg) n.422G>C | |
7 | g.151064337G>T | CA370007994 | SLC4A2 | c.187G>T (p.Gly63Cys) c.52-268G>T (n.52-268G>T) c.160G>T (p.Gly54Cys) c.145G>T (p.Gly49Cys) n.422G>T | COSMIC |
7 | g.151064338G>A | CA370007997 | SLC4A2 | c.188G>A (p.Gly63Asp) c.52-267G>A (n.52-267G>A) c.161G>A (p.Gly54Asp) c.146G>A (p.Gly49Asp) n.423G>A | |
7 | g.151064338G>C | CA370007998 | SLC4A2 | c.188G>C (p.Gly63Ala) c.52-267G>C (n.52-267G>C) c.161G>C (p.Gly54Ala) c.146G>C (p.Gly49Ala) n.423G>C | |
7 | g.151064338G>T | CA370007999 | SLC4A2 | c.188G>T (p.Gly63Val) c.52-267G>T (n.52-267G>T) c.161G>T (p.Gly54Val) c.146G>T (p.Gly49Val) n.423G>T | |
7 | g.151064339C>A | CA458875871 | SLC4A2 | c.189C>A (p.Gly63=) c.52-266C>A (n.52-266C>A) c.162C>A (p.Gly54=) c.147C>A (p.Gly49=) n.424C>A | |
7 | g.151064339C>G | CA458875872 | SLC4A2 | c.189C>G (p.Gly63=) c.52-266C>G (n.52-266C>G) c.162C>G (p.Gly54=) c.147C>G (p.Gly49=) n.424C>G | |
7 | g.151064339C>T | CA458875873 | SLC4A2 | c.189C>T (p.Gly63=) c.52-266C>T (n.52-266C>T) c.162C>T (p.Gly54=) c.147C>T (p.Gly49=) n.424C>T | |
7 | g.151064340C>A | CA370008000 | SLC4A2 | c.190C>A (p.Arg64Ser) c.52-265C>A (n.52-265C>A) c.163C>A (p.Arg55Ser) c.148C>A (p.Arg50Ser) n.425C>A | |
7 | g.151064340C= | CA1752500347 | SLC4A2 | c.190C= (p.Arg64=) c.52-265C= (n.52-265C=) c.163C= (p.Arg55=) c.148C= (p.Arg50=) n.425C= | |
7 | g.151064340C>G | CA370008001 | SLC4A2 | c.190C>G (p.Arg64Gly) c.52-265C>G (n.52-265C>G) c.163C>G (p.Arg55Gly) c.148C>G (p.Arg50Gly) n.425C>G | |
7 | g.151064340C>T | CA370008002 | SLC4A2 | c.190C>T (p.Arg64Cys) c.52-265C>T (n.52-265C>T) c.163C>T (p.Arg55Cys) c.148C>T (p.Arg50Cys) n.425C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064340_151064341insACCCCCCACCAAACACACCCAAC | CA2778429264 | SLC4A2 | c.190_191insACCCCCCACCAAACACACCCAAC (p.Arg64HisfsTer?) c.52-265_52-264insACCCCCCACCAAACACACCCAAC (n.52-265_52-264insACCCCCCACCAAACACACCCAAC) c.163_164insACCCCCCACCAAACACACCCAAC (p.Arg55HisfsTer?) c.148_149insACCCCCCACCAAACACACCCAAC (p.Arg50HisfsTer?) n.425_426insACCCCCCACCAAACACACCCAAC | |
7 | g.151064341G>A | CA370008003 | SLC4A2 | c.191G>A (p.Arg64His) c.52-264G>A (n.52-264G>A) c.164G>A (p.Arg55His) c.149G>A (p.Arg50His) n.426G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.151064341G>C | CA370008004 | SLC4A2 | c.191G>C (p.Arg64Pro) c.52-264G>C (n.52-264G>C) c.164G>C (p.Arg55Pro) c.149G>C (p.Arg50Pro) n.426G>C | |
7 | g.151064341G= | CA1752500348 | SLC4A2 | c.191G= (p.Arg64=) c.52-264G= (n.52-264G=) c.164G= (p.Arg55=) c.149G= (p.Arg50=) n.426G= | |
7 | g.151064341G>T | CA370008005 | SLC4A2 | c.191G>T (p.Arg64Leu) c.52-264G>T (n.52-264G>T) c.164G>T (p.Arg55Leu) c.149G>T (p.Arg50Leu) n.426G>T | |
7 | g.151064342C>A | CA4570745 | SLC4A2 | c.192C>A (p.Arg64=) c.52-263C>A (n.52-263C>A) c.165C>A (p.Arg55=) c.150C>A (p.Arg50=) n.427C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064342C= | CA1752500349 | SLC4A2 | c.192C= (p.Arg64=) c.52-263C= (n.52-263C=) c.165C= (p.Arg55=) c.150C= (p.Arg50=) n.427C= | |
7 | g.151064342C>G | CA458875875 | SLC4A2 | c.192C>G (p.Arg64=) c.52-263C>G (n.52-263C>G) c.165C>G (p.Arg55=) c.150C>G (p.Arg50=) n.427C>G | |
7 | g.151064342C>T | CA458875874 | SLC4A2 | c.192C>T (p.Arg64=) c.52-263C>T (n.52-263C>T) c.165C>T (p.Arg55=) c.150C>T (p.Arg50=) n.427C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064343A>C | CA370008006 | SLC4A2 | c.193A>C (p.Ser65Arg) c.52-262A>C (n.52-262A>C) c.166A>C (p.Ser56Arg) c.151A>C (p.Ser51Arg) n.428A>C | |
7 | g.151064343A>G | CA370008007 | SLC4A2 | c.193A>G (p.Ser65Gly) c.52-262A>G (n.52-262A>G) c.166A>G (p.Ser56Gly) c.151A>G (p.Ser51Gly) n.428A>G | |
7 | g.151064343A>T | CA370008008 | SLC4A2 | c.193A>T (p.Ser65Cys) c.52-262A>T (n.52-262A>T) c.166A>T (p.Ser56Cys) c.151A>T (p.Ser51Cys) n.428A>T | |
7 | g.151064344G>A | CA370008010 | SLC4A2 | c.194G>A (p.Ser65Asn) c.52-261G>A (n.52-261G>A) c.167G>A (p.Ser56Asn) c.152G>A (p.Ser51Asn) n.429G>A | |
7 | g.151064344G>C | CA370008011 | SLC4A2 | c.194G>C (p.Ser65Thr) c.52-261G>C (n.52-261G>C) c.167G>C (p.Ser56Thr) c.152G>C (p.Ser51Thr) n.429G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064344G= | CA1752500350 | SLC4A2 | c.194G= (p.Ser65=) c.52-261G= (n.52-261G=) c.167G= (p.Ser56=) c.152G= (p.Ser51=) n.429G= | |
7 | g.151064344G>T | CA370008009 | SLC4A2 | c.194G>T (p.Ser65Ile) c.52-261G>T (n.52-261G>T) c.167G>T (p.Ser56Ile) c.152G>T (p.Ser51Ile) n.429G>T | |
7 | g.151064345C>A | CA370008012 | SLC4A2 | c.195C>A (p.Ser65Arg) c.52-260C>A (n.52-260C>A) c.168C>A (p.Ser56Arg) c.153C>A (p.Ser51Arg) n.430C>A | |
7 | g.151064345C>G | CA370008013 | SLC4A2 | c.195C>G (p.Ser65Arg) c.52-260C>G (n.52-260C>G) c.168C>G (p.Ser56Arg) c.153C>G (p.Ser51Arg) n.430C>G | |
7 | g.151064345C>T | CA458875876 | SLC4A2 | c.195C>T (p.Ser65=) c.52-260C>T (n.52-260C>T) c.168C>T (p.Ser56=) c.153C>T (p.Ser51=) n.430C>T | |
7 | g.151064346T>A | CA370008014 | SLC4A2 | c.196T>A (p.Tyr66Asn) c.52-259T>A (n.52-259T>A) c.169T>A (p.Tyr57Asn) c.154T>A (p.Tyr52Asn) n.431T>A | |
7 | g.151064346T>C | CA370008015 | SLC4A2 | c.196T>C (p.Tyr66His) c.52-259T>C (n.52-259T>C) c.169T>C (p.Tyr57His) c.154T>C (p.Tyr52His) n.431T>C | |
7 | g.151064346T>G | CA370008016 | SLC4A2 | c.196T>G (p.Tyr66Asp) c.52-259T>G (n.52-259T>G) c.169T>G (p.Tyr57Asp) c.154T>G (p.Tyr52Asp) n.431T>G | |
7 | g.151064347A>C | CA370008019 | SLC4A2 | c.197A>C (p.Tyr66Ser) c.52-258A>C (n.52-258A>C) c.170A>C (p.Tyr57Ser) c.155A>C (p.Tyr52Ser) n.432A>C | |
7 | g.151064347A>G | CA370008018 | SLC4A2 | c.197A>G (p.Tyr66Cys) c.52-258A>G (n.52-258A>G) c.170A>G (p.Tyr57Cys) c.155A>G (p.Tyr52Cys) n.432A>G | |
7 | g.151064347A>T | CA370008017 | SLC4A2 | c.197A>T (p.Tyr66Phe) c.52-258A>T (n.52-258A>T) c.170A>T (p.Tyr57Phe) c.155A>T (p.Tyr52Phe) n.432A>T | |
7 | g.151064348T>A | CA370008020 | SLC4A2 | c.198T>A (p.Tyr66Ter) c.52-257T>A (n.52-257T>A) c.171T>A (p.Tyr57Ter) c.156T>A (p.Tyr52Ter) n.433T>A | |
7 | g.151064348T>C | CA458875877 | SLC4A2 | c.198T>C (p.Tyr66=) c.52-257T>C (n.52-257T>C) c.171T>C (p.Tyr57=) c.156T>C (p.Tyr52=) n.433T>C | |
7 | g.151064348T>G | CA370008021 | SLC4A2 | c.198T>G (p.Tyr66Ter) c.52-257T>G (n.52-257T>G) c.171T>G (p.Tyr57Ter) c.156T>G (p.Tyr52Ter) n.433T>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064348T= | CA1752500351 | SLC4A2 | c.198T= (p.Tyr66=) c.52-257T= (n.52-257T=) c.171T= (p.Tyr57=) c.156T= (p.Tyr52=) n.433T= | |
7 | g.151064349G>A | CA370008022 | SLC4A2 | c.199G>A (p.Gly67Arg) c.52-256G>A (n.52-256G>A) c.172G>A (p.Gly58Arg) c.157G>A (p.Gly53Arg) n.434G>A | |
7 | g.151064349G>C | CA370008023 | SLC4A2 | c.199G>C (p.Gly67Arg) c.52-256G>C (n.52-256G>C) c.172G>C (p.Gly58Arg) c.157G>C (p.Gly53Arg) n.434G>C | |
7 | g.151064349G>T | CA370008024 | SLC4A2 | c.199G>T (p.Gly67Trp) c.52-256G>T (n.52-256G>T) c.172G>T (p.Gly58Trp) c.157G>T (p.Gly53Trp) n.434G>T | |
7 | g.151064353_151064375dup | CA4570746 | SLC4A2 | c.203_217+8dup c.52-252_52-230dup (n.52-252_52-230dup) c.176_190+8dup c.161_175+8dup n.438_460dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064350G>A | CA370008027 | SLC4A2 | c.200G>A (p.Gly67Glu) c.52-255G>A (n.52-255G>A) c.173G>A (p.Gly58Glu) c.158G>A (p.Gly53Glu) n.435G>A | dbSNP |
7 | g.151064350G>C | CA370008026 | SLC4A2 | c.200G>C (p.Gly67Ala) c.52-255G>C (n.52-255G>C) c.173G>C (p.Gly58Ala) c.158G>C (p.Gly53Ala) n.435G>C | |
7 | g.151064350G= | CA1752500352 | SLC4A2 | c.200G= (p.Gly67=) c.52-255G= (n.52-255G=) c.173G= (p.Gly58=) c.158G= (p.Gly53=) n.435G= | |
7 | g.151064350G>T | CA370008025 | SLC4A2 | c.200G>T (p.Gly67Val) c.52-255G>T (n.52-255G>T) c.173G>T (p.Gly58Val) c.158G>T (p.Gly53Val) n.435G>T | |
7 | g.151064351G>A | CA458875880 | SLC4A2 | c.201G>A (p.Gly67=) c.52-254G>A (n.52-254G>A) c.174G>A (p.Gly58=) c.159G>A (p.Gly53=) n.436G>A | |
7 | g.151064351G>C | CA458875878 | SLC4A2 | c.201G>C (p.Gly67=) c.52-254G>C (n.52-254G>C) c.174G>C (p.Gly58=) c.159G>C (p.Gly53=) n.436G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064351G= | CA1752500353 | SLC4A2 | c.201G= (p.Gly67=) c.52-254G= (n.52-254G=) c.174G= (p.Gly58=) c.159G= (p.Gly53=) n.436G= | |
7 | g.151064351G>T | CA458875879 | SLC4A2 | c.201G>T (p.Gly67=) c.52-254G>T (n.52-254G>T) c.174G>T (p.Gly58=) c.159G>T (p.Gly53=) n.436G>T | |
7 | g.151064352G>A | CA370008028 | SLC4A2 | c.202G>A (p.Glu68Lys) c.52-253G>A (n.52-253G>A) c.175G>A (p.Glu59Lys) c.160G>A (p.Glu54Lys) n.437G>A | dbSNP |
7 | g.151064352G>C | CA370008030 | SLC4A2 | c.202G>C (p.Glu68Gln) c.52-253G>C (n.52-253G>C) c.175G>C (p.Glu59Gln) c.160G>C (p.Glu54Gln) n.437G>C | |
7 | g.151064352G= | CA1752500354 | SLC4A2 | c.202G= (p.Glu68=) c.52-253G= (n.52-253G=) c.175G= (p.Glu59=) c.160G= (p.Glu54=) n.437G= | |
7 | g.151064352G>T | CA370008029 | SLC4A2 | c.202G>T (p.Glu68Ter) c.52-253G>T (n.52-253G>T) c.175G>T (p.Glu59Ter) c.160G>T (p.Glu54Ter) n.437G>T | |
7 | g.151064353A>C | CA370008031 | SLC4A2 | c.203A>C (p.Glu68Ala) c.52-252A>C (n.52-252A>C) c.176A>C (p.Glu59Ala) c.161A>C (p.Glu54Ala) n.438A>C | |
7 | g.151064353A>G | CA370008033 | SLC4A2 | c.203A>G (p.Glu68Gly) c.52-252A>G (n.52-252A>G) c.176A>G (p.Glu59Gly) c.161A>G (p.Glu54Gly) n.438A>G | gnomAD v4 |
7 | g.151064353A>T | CA370008032 | SLC4A2 | c.203A>T (p.Glu68Val) c.52-252A>T (n.52-252A>T) c.176A>T (p.Glu59Val) c.161A>T (p.Glu54Val) n.438A>T | |
7 | g.151064354G>A | CA458875881 | SLC4A2 | c.204G>A (p.Glu68=) c.52-251G>A (n.52-251G>A) c.177G>A (p.Glu59=) c.162G>A (p.Glu54=) n.439G>A | gnomAD v4 |
7 | g.151064354G>C | CA370008034 | SLC4A2 | c.204G>C (p.Glu68Asp) c.52-251G>C (n.52-251G>C) c.177G>C (p.Glu59Asp) c.162G>C (p.Glu54Asp) n.439G>C | |
7 | g.151064354G>T | CA370008035 | SLC4A2 | c.204G>T (p.Glu68Asp) c.52-251G>T (n.52-251G>T) c.177G>T (p.Glu59Asp) c.162G>T (p.Glu54Asp) n.439G>T | gnomAD v4 |
7 | g.151064355G>A | CA370008036 | SLC4A2 | c.205G>A (p.Glu69Lys) c.52-250G>A (n.52-250G>A) c.178G>A (p.Glu60Lys) c.163G>A (p.Glu55Lys) n.440G>A | gnomAD v4 |
7 | g.151064355G>C | CA370008038 | SLC4A2 | c.205G>C (p.Glu69Gln) c.52-250G>C (n.52-250G>C) c.178G>C (p.Glu60Gln) c.163G>C (p.Glu55Gln) n.440G>C | |
7 | g.151064355G>T | CA370008037 | SLC4A2 | c.205G>T (p.Glu69Ter) c.52-250G>T (n.52-250G>T) c.178G>T (p.Glu60Ter) c.163G>T (p.Glu55Ter) n.440G>T | |
7 | g.151064356A>C | CA370008039 | SLC4A2 | c.206A>C (p.Glu69Ala) c.52-249A>C (n.52-249A>C) c.179A>C (p.Glu60Ala) c.164A>C (p.Glu55Ala) n.441A>C | gnomAD v3 gnomAD v4 |
7 | g.151064356A>G | CA370008041 | SLC4A2 | c.206A>G (p.Glu69Gly) c.52-249A>G (n.52-249A>G) c.179A>G (p.Glu60Gly) c.164A>G (p.Glu55Gly) n.441A>G | |
7 | g.151064356A>T | CA370008040 | SLC4A2 | c.206A>T (p.Glu69Val) c.52-249A>T (n.52-249A>T) c.179A>T (p.Glu60Val) c.164A>T (p.Glu55Val) n.441A>T | |
7 | g.151064357A>C | CA370008042 | SLC4A2 | c.207A>C (p.Glu69Asp) c.52-248A>C (n.52-248A>C) c.180A>C (p.Glu60Asp) c.165A>C (p.Glu55Asp) n.442A>C | |
7 | g.151064357A>G | CA458875882 | SLC4A2 | c.207A>G (p.Glu69=) c.52-248A>G (n.52-248A>G) c.180A>G (p.Glu60=) c.165A>G (p.Glu55=) n.442A>G | |
7 | g.151064357A>T | CA370008043 | SLC4A2 | c.207A>T (p.Glu69Asp) c.52-248A>T (n.52-248A>T) c.180A>T (p.Glu60Asp) c.165A>T (p.Glu55Asp) n.442A>T | |
7 | g.151064358G>A | CA370008044 | SLC4A2 | c.208G>A (p.Asp70Asn) c.52-247G>A (n.52-247G>A) c.181G>A (p.Asp61Asn) c.166G>A (p.Asp56Asn) n.443G>A | |
7 | g.151064358G>C | CA370008045 | SLC4A2 | c.208G>C (p.Asp70His) c.52-247G>C (n.52-247G>C) c.181G>C (p.Asp61His) c.166G>C (p.Asp56His) n.443G>C | |
7 | g.151064358G>T | CA370008046 | SLC4A2 | c.208G>T (p.Asp70Tyr) c.52-247G>T (n.52-247G>T) c.181G>T (p.Asp61Tyr) c.166G>T (p.Asp56Tyr) n.443G>T | |
7 | g.151064359A= | CA1752500355 | SLC4A2 | c.209A= (p.Asp70=) c.52-246A= (n.52-246A=) c.182A= (p.Asp61=) c.167A= (p.Asp56=) n.444A= | |
7 | g.151064359A>C | CA370008047 | SLC4A2 | c.209A>C (p.Asp70Ala) c.52-246A>C (n.52-246A>C) c.182A>C (p.Asp61Ala) c.167A>C (p.Asp56Ala) n.444A>C | |
7 | g.151064359A>G | CA370008048 | SLC4A2 | c.209A>G (p.Asp70Gly) c.52-246A>G (n.52-246A>G) c.182A>G (p.Asp61Gly) c.167A>G (p.Asp56Gly) n.444A>G | dbSNP gnomAD v4 |
7 | g.151064359A>T | CA370008049 | SLC4A2 | c.209A>T (p.Asp70Val) c.52-246A>T (n.52-246A>T) c.182A>T (p.Asp61Val) c.167A>T (p.Asp56Val) n.444A>T | |
7 | g.151064360C>A | CA370008050 | SLC4A2 | c.210C>A (p.Asp70Glu) c.52-245C>A (n.52-245C>A) c.183C>A (p.Asp61Glu) c.168C>A (p.Asp56Glu) n.445C>A | gnomAD v4 |
7 | g.151064360C>G | CA370008051 | SLC4A2 | c.210C>G (p.Asp70Glu) c.52-245C>G (n.52-245C>G) c.183C>G (p.Asp61Glu) c.168C>G (p.Asp56Glu) n.445C>G | |
7 | g.151064360C>T | CA458875883 | SLC4A2 | c.210C>T (p.Asp70=) c.52-245C>T (n.52-245C>T) c.183C>T (p.Asp61=) c.168C>T (p.Asp56=) n.445C>T | |
7 | g.151064361T>A | CA370008052 | SLC4A2 | c.211T>A (p.Phe71Ile) c.52-244T>A (n.52-244T>A) c.184T>A (p.Phe62Ile) c.169T>A (p.Phe57Ile) c.211T>A n.446T>A | |
7 | g.151064361T>C | CA370008053 | SLC4A2 | c.211T>C (p.Phe71Leu) c.52-244T>C (n.52-244T>C) c.184T>C (p.Phe62Leu) c.169T>C (p.Phe57Leu) c.211T>C n.446T>C | |
7 | g.151064361T>G | CA370008054 | SLC4A2 | c.211T>G (p.Phe71Val) c.52-244T>G (n.52-244T>G) c.184T>G (p.Phe62Val) c.169T>G (p.Phe57Val) c.211T>G n.446T>G | |
7 | g.151064362T>A | CA370008057 | SLC4A2 | c.212T>A (p.Phe71Tyr) c.52-243T>A (n.52-243T>A) c.185T>A (p.Phe62Tyr) c.170T>A (p.Phe57Tyr) n.447T>A | gnomAD v4 |
7 | g.151064362T>C | CA370008055 | SLC4A2 | c.212T>C (p.Phe71Ser) c.52-243T>C (n.52-243T>C) c.185T>C (p.Phe62Ser) c.170T>C (p.Phe57Ser) n.447T>C | |
7 | g.151064362T>G | CA370008056 | SLC4A2 | c.212T>G (p.Phe71Cys) c.52-243T>G (n.52-243T>G) c.185T>G (p.Phe62Cys) c.170T>G (p.Phe57Cys) n.447T>G | |
7 | g.151064363T>A | CA370008058 | SLC4A2 | c.213T>A (p.Phe71Leu) c.52-242T>A (n.52-242T>A) c.186T>A (p.Phe62Leu) c.171T>A (p.Phe57Leu) n.448T>A | |
7 | g.151064363T>C | CA458875884 | SLC4A2 | c.213T>C (p.Phe71=) c.52-242T>C (n.52-242T>C) c.186T>C (p.Phe62=) c.171T>C (p.Phe57=) n.448T>C | gnomAD v4 |
7 | g.151064363T>G | CA370008059 | SLC4A2 | c.213T>G (p.Phe71Leu) c.52-242T>G (n.52-242T>G) c.186T>G (p.Phe62Leu) c.171T>G (p.Phe57Leu) n.448T>G | gnomAD v4 |
7 | g.151064364G>A | CA370008060 | SLC4A2 | c.214G>A (p.Glu72Lys) c.52-241G>A (n.52-241G>A) c.187G>A (p.Glu63Lys) c.172G>A (p.Glu58Lys) n.449G>A | |
7 | g.151064364G>C | CA370008061 | SLC4A2 | c.214G>C (p.Glu72Gln) c.52-241G>C (n.52-241G>C) c.187G>C (p.Glu63Gln) c.172G>C (p.Glu58Gln) n.449G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064364G= | CA1752500356 | SLC4A2 | c.214G= (p.Glu72=) c.52-241G= (n.52-241G=) c.187G= (p.Glu63=) c.172G= (p.Glu58=) n.449G= | |
7 | g.151064364G>T | CA370008062 | SLC4A2 | c.214G>T (p.Glu72Ter) c.52-241G>T (n.52-241G>T) c.187G>T (p.Glu63Ter) c.172G>T (p.Glu58Ter) n.449G>T | |
7 | g.151064365A>C | CA370008063 | SLC4A2 | c.215A>C (p.Glu72Ala) c.52-240A>C (n.52-240A>C) c.188A>C (p.Glu63Ala) c.173A>C (p.Glu58Ala) n.450A>C | |
7 | g.151064365A>G | CA370008064 | SLC4A2 | c.215A>G (p.Glu72Gly) c.52-240A>G (n.52-240A>G) c.188A>G (p.Glu63Gly) c.173A>G (p.Glu58Gly) n.450A>G | gnomAD v3 gnomAD v4 |
7 | g.151064365A>T | CA370008065 | SLC4A2 | c.215A>T (p.Glu72Val) c.52-240A>T (n.52-240A>T) c.188A>T (p.Glu63Val) c.173A>T (p.Glu58Val) n.450A>T | gnomAD v4 |
7 | g.151064366G>A | CA458875885 | SLC4A2 | c.216G>A (p.Glu72=) c.52-239G>A (n.52-239G>A) c.189G>A (p.Glu63=) c.174G>A (p.Glu58=) n.451G>A | |
7 | g.151064366G>C | CA370008067 | SLC4A2 | c.216G>C (p.Glu72Asp) c.52-239G>C (n.52-239G>C) c.189G>C (p.Glu63Asp) c.174G>C (p.Glu58Asp) n.451G>C | |
7 | g.151064366G>T | CA370008069 | SLC4A2 | c.216G>T (p.Glu72Asp) c.52-239G>T (n.52-239G>T) c.189G>T (p.Glu63Asp) c.174G>T (p.Glu58Asp) n.451G>T | |
7 | g.151064369_151064370del | CA2685635446 | SLC4A2 | c.217+2_217+3del c.52-236_52-235del (n.52-236_52-235del) c.190+2_190+3del c.175+2_175+3del n.454_455del | gnomAD v4 |