Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149978051_149978054dup | CA2740094132 | SLC26A2 | n.631_634dup c.399_402dup (p.Gln135TrpfsTer?) c.72_75dup (p.Gln26TrpfsTer?) | ClinVar |
5 | g.149978052G>A | CA361704909 | SLC26A2 | n.632G>A c.400G>A (p.Gly134Ser) c.73G>A (p.Gly25Ser) | |
5 | g.149978052G>C | CA361704910 | SLC26A2 | n.632G>C c.400G>C (p.Gly134Arg) c.73G>C (p.Gly25Arg) | |
5 | g.149978052G>T | CA361704911 | SLC26A2 | n.632G>T c.400G>T (p.Gly134Cys) c.73G>T (p.Gly25Cys) | |
5 | g.149978052_149978055dup | CA1590737383 | SLC26A2 | n.632_635dup c.400_403dup (p.Gln135ArgfsTer?) c.73_76dup (p.Gln26ArgfsTer?) | dbSNP |
5 | g.149978053G>A | CA361704912 | SLC26A2 | n.633G>A c.401G>A (p.Gly134Asp) c.74G>A (p.Gly25Asp) | |
5 | g.149978053G>C | CA361704913 | SLC26A2 | n.633G>C c.401G>C (p.Gly134Ala) c.74G>C (p.Gly25Ala) | |
5 | g.149978053G>T | CA361704914 | SLC26A2 | n.633G>T c.401G>T (p.Gly134Val) c.74G>T (p.Gly25Val) | |
5 | g.149978054C>A | CA447401914 | SLC26A2 | n.634C>A c.402C>A (p.Gly134=) c.75C>A (p.Gly25=) | |
5 | g.149978054C>G | CA447401917 | SLC26A2 | n.634C>G c.402C>G (p.Gly134=) c.75C>G (p.Gly25=) | |
5 | g.149978054C>T | CA447401915 | SLC26A2 | n.634C>T c.402C>T (p.Gly134=) c.75C>T (p.Gly25=) | ClinVar |
5 | g.149978055C>A | CA263263 | SLC26A2 | n.635C>A c.403C>A (p.Gln135Lys) c.76C>A (p.Gln26Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978055C= | CA1590737384 | SLC26A2 | n.635C= c.403C= (p.Gln135=) c.76C= (p.Gln26=) | |
5 | g.149978055C>G | CA361704916 | SLC26A2 | n.635C>G c.403C>G (p.Gln135Glu) c.76C>G (p.Gln26Glu) | |
5 | g.149978055C>T | CA361704915 | SLC26A2 | n.635C>T c.403C>T (p.Gln135Ter) c.76C>T (p.Gln26Ter) | gnomAD v4 |
5 | g.149978056A>C | CA361704917 | SLC26A2 | n.636A>C c.404A>C (p.Gln135Pro) c.77A>C (p.Gln26Pro) | |
5 | g.149978056A>G | CA361704919 | SLC26A2 | n.636A>G c.404A>G (p.Gln135Arg) c.77A>G (p.Gln26Arg) | |
5 | g.149978056A>T | CA361704918 | SLC26A2 | n.636A>T c.404A>T (p.Gln135Leu) c.77A>T (p.Gln26Leu) | |
5 | g.149978057A>C | CA361704920 | SLC26A2 | n.637A>C c.405A>C (p.Gln135His) c.78A>C (p.Gln26His) | |
5 | g.149978057A>G | CA447401925 | SLC26A2 | n.637A>G c.405A>G (p.Gln135=) c.78A>G (p.Gln26=) | |
5 | g.149978057A>T | CA361704921 | SLC26A2 | n.637A>T c.405A>T (p.Gln135His) c.78A>T (p.Gln26His) | |
5 | g.149978058G>A | CA361704922 | SLC26A2 | n.638G>A c.406G>A (p.Glu136Lys) c.79G>A (p.Glu27Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978058G>C | CA361704923 | SLC26A2 | n.638G>C c.406G>C (p.Glu136Gln) c.79G>C (p.Glu27Gln) | |
5 | g.149978058G= | CA1590737385 | SLC26A2 | n.638G= c.406G= (p.Glu136=) c.79G= (p.Glu27=) | |
5 | g.149978058G>T | CA361704924 | SLC26A2 | n.638G>T c.406G>T (p.Glu136Ter) c.79G>T (p.Glu27Ter) | |
5 | g.149978059A>C | CA361704925 | SLC26A2 | n.639A>C c.407A>C (p.Glu136Ala) c.80A>C (p.Glu27Ala) | |
5 | g.149978059A>G | CA361704926 | SLC26A2 | n.639A>G c.407A>G (p.Glu136Gly) c.80A>G (p.Glu27Gly) | |
5 | g.149978059A>T | CA361704927 | SLC26A2 | n.639A>T c.407A>T (p.Glu136Val) c.80A>T (p.Glu27Val) | |
5 | g.149978060A>C | CA361704928 | SLC26A2 | n.640A>C c.408A>C (p.Glu136Asp) c.81A>C (p.Glu27Asp) | |
5 | g.149978060A>G | CA447401933 | SLC26A2 | n.640A>G c.408A>G (p.Glu136=) c.81A>G (p.Glu27=) | ClinVar gnomAD v4 |
5 | g.149978060A>T | CA361704929 | SLC26A2 | n.640A>T c.408A>T (p.Glu136Asp) c.81A>T (p.Glu27Asp) | |
5 | g.149978061C>A | CA361704931 | SLC26A2 | n.641C>A c.409C>A (p.Pro137Thr) c.82C>A (p.Pro28Thr) | |
5 | g.149978061C= | CA1590737386 | SLC26A2 | n.641C= c.409C= (p.Pro137=) c.82C= (p.Pro28=) | |
5 | g.149978061C>G | CA361704930 | SLC26A2 | n.641C>G c.409C>G (p.Pro137Ala) c.82C>G (p.Pro28Ala) | |
5 | g.149978061C>T | CA3505242 | SLC26A2 | n.641C>T c.409C>T (p.Pro137Ser) c.82C>T (p.Pro28Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978062C>A | CA361704932 | SLC26A2 | n.642C>A c.410C>A (p.Pro137His) c.83C>A (p.Pro28His) | |
5 | g.149978062C>G | CA361704933 | SLC26A2 | n.642C>G c.410C>G (p.Pro137Arg) c.83C>G (p.Pro28Arg) | |
5 | g.149978062C>T | CA361704934 | SLC26A2 | n.642C>T c.410C>T (p.Pro137Leu) c.83C>T (p.Pro28Leu) | gnomAD v4 |
5 | g.149978063T>A | CA447401939 | SLC26A2 | n.643T>A c.411T>A (p.Pro137=) c.84T>A (p.Pro28=) | |
5 | g.149978063T>C | CA447401941 | SLC26A2 | n.643T>C c.411T>C (p.Pro137=) c.84T>C (p.Pro28=) | |
5 | g.149978063T>G | CA447401942 | SLC26A2 | n.643T>G c.411T>G (p.Pro137=) c.84T>G (p.Pro28=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978063T= | CA1590737387 | SLC26A2 | n.643T= c.411T= (p.Pro137=) c.84T= (p.Pro28=) | |
5 | g.149978064G>A | CA361704935 | SLC26A2 | n.644G>A c.412G>A (p.Val138Ile) c.85G>A (p.Val29Ile) | gnomAD v4 |
5 | g.149978064G>C | CA361704936 | SLC26A2 | n.644G>C c.412G>C (p.Val138Leu) c.85G>C (p.Val29Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978064G= | CA1590737388 | SLC26A2 | n.644G= c.412G= (p.Val138=) c.85G= (p.Val29=) | |
5 | g.149978064G>T | CA361704937 | SLC26A2 | n.644G>T c.412G>T (p.Val138Phe) c.85G>T (p.Val29Phe) | |
5 | g.149978065T>A | CA361704938 | SLC26A2 | n.645T>A c.413T>A (p.Val138Asp) c.86T>A (p.Val29Asp) | |
5 | g.149978065T>C | CA361704939 | SLC26A2 | n.645T>C c.413T>C (p.Val138Ala) c.86T>C (p.Val29Ala) | |
5 | g.149978065T>G | CA361704940 | SLC26A2 | n.645T>G c.413T>G (p.Val138Gly) c.86T>G (p.Val29Gly) | |
5 | g.149978066C>A | CA447401949 | SLC26A2 | n.646C>A c.414C>A (p.Val138=) c.87C>A (p.Val29=) | ClinVar |
5 | g.149978066C>G | CA447401950 | SLC26A2 | n.646C>G c.414C>G (p.Val138=) c.87C>G (p.Val29=) | |
5 | g.149978066C>T | CA447401951 | SLC26A2 | n.646C>T c.414C>T (p.Val138=) c.87C>T (p.Val29=) | |
5 | g.149978067T>A | CA361704941 | SLC26A2 | n.647T>A c.415T>A (p.Tyr139Asn) c.88T>A (p.Tyr30Asn) | |
5 | g.149978067T>C | CA361704942 | SLC26A2 | n.647T>C c.415T>C (p.Tyr139His) c.88T>C (p.Tyr30His) | |
5 | g.149978067T>G | CA361704943 | SLC26A2 | n.647T>G c.415T>G (p.Tyr139Asp) c.88T>G (p.Tyr30Asp) | |
5 | g.149978068A= | CA1590737389 | SLC26A2 | n.648A= c.416A= (p.Tyr139=) c.89A= (p.Tyr30=) | |
5 | g.149978068A>C | CA361704945 | SLC26A2 | n.648A>C c.416A>C (p.Tyr139Ser) c.89A>C (p.Tyr30Ser) | |
5 | g.149978068A>G | CA361704946 | SLC26A2 | n.648A>G c.416A>G (p.Tyr139Cys) c.89A>G (p.Tyr30Cys) | dbSNP gnomAD v4 |
5 | g.149978068A>T | CA361704944 | SLC26A2 | n.648A>T c.416A>T (p.Tyr139Phe) c.89A>T (p.Tyr30Phe) | |
5 | g.149978069T>A | CA361704947 | SLC26A2 | n.649T>A c.417T>A (p.Tyr139Ter) c.90T>A (p.Tyr30Ter) | |
5 | g.149978069T>C | CA447401959 | SLC26A2 | n.649T>C c.417T>C (p.Tyr139=) c.90T>C (p.Tyr30=) | |
5 | g.149978069T>G | CA361704948 | SLC26A2 | n.649T>G c.417T>G (p.Tyr139Ter) c.90T>G (p.Tyr30Ter) | |
5 | g.149978070G>A | CA361704949 | SLC26A2 | n.650G>A c.418G>A (p.Gly140Ser) c.91G>A (p.Gly31Ser) | |
5 | g.149978070G>C | CA361704950 | SLC26A2 | n.650G>C c.418G>C (p.Gly140Arg) c.91G>C (p.Gly31Arg) | |
5 | g.149978070G>T | CA361704951 | SLC26A2 | n.650G>T c.418G>T (p.Gly140Cys) c.91G>T (p.Gly31Cys) | gnomAD v4 |
5 | g.149978071G>A | CA361704952 | SLC26A2 | n.651G>A c.419G>A (p.Gly140Asp) c.92G>A (p.Gly31Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978071G>C | CA361704953 | SLC26A2 | n.651G>C c.419G>C (p.Gly140Ala) c.92G>C (p.Gly31Ala) | |
5 | g.149978071G= | CA1590737390 | SLC26A2 | n.651G= c.419G= (p.Gly140=) c.92G= (p.Gly31=) | |
5 | g.149978071G>T | CA361704954 | SLC26A2 | n.651G>T c.419G>T (p.Gly140Val) c.92G>T (p.Gly31Val) | gnomAD v4 |
5 | g.149978072T>A | CA447401965 | SLC26A2 | n.652T>A c.420T>A (p.Gly140=) c.93T>A (p.Gly31=) | |
5 | g.149978072T>C | CA447401967 | SLC26A2 | n.652T>C c.420T>C (p.Gly140=) c.93T>C (p.Gly31=) | ClinVar |
5 | g.149978072T>G | CA447401966 | SLC26A2 | n.652T>G c.420T>G (p.Gly140=) c.93T>G (p.Gly31=) | |
5 | g.149978073C>A | CA361704955 | SLC26A2 | n.653C>A c.421C>A (p.Leu141Met) c.94C>A (p.Leu32Met) | |
5 | g.149978073C= | CA1590737391 | SLC26A2 | n.653C= c.421C= (p.Leu141=) c.94C= (p.Leu32=) | |
5 | g.149978073C>G | CA361704956 | SLC26A2 | n.653C>G c.421C>G (p.Leu141Val) c.94C>G (p.Leu32Val) | |
5 | g.149978073C>T | CA447401970 | SLC26A2 | n.653C>T c.421C>T (p.Leu141=) c.94C>T (p.Leu32=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978074T>A | CA361704957 | SLC26A2 | n.654T>A c.422T>A (p.Leu141Gln) c.95T>A (p.Leu32Gln) | |
5 | g.149978074T>C | CA3505243 | SLC26A2 | n.654T>C c.422T>C (p.Leu141Pro) c.95T>C (p.Leu32Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978074T>G | CA361704958 | SLC26A2 | n.654T>G c.422T>G (p.Leu141Arg) c.95T>G (p.Leu32Arg) | |
5 | g.149978074T= | CA1590737392 | SLC26A2 | n.654T= c.422T= (p.Leu141=) c.95T= (p.Leu32=) | |
5 | g.149978075G>A | CA3505245 | SLC26A2 | n.655G>A c.423G>A (p.Leu141=) c.96G>A (p.Leu32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978075G>C | CA3505244 | SLC26A2 | n.655G>C c.423G>C (p.Leu141=) c.96G>C (p.Leu32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978075G= | CA1590737393 | SLC26A2 | n.655G= c.423G= (p.Leu141=) c.96G= (p.Leu32=) | |
5 | g.149978075G>T | CA447401976 | SLC26A2 | n.655G>T c.423G>T (p.Leu141=) c.96G>T (p.Leu32=) | gnomAD v4 |
5 | g.149978076T>A | CA361704959 | SLC26A2 | n.656T>A c.424T>A (p.Tyr142Asn) c.97T>A (p.Tyr33Asn) | |
5 | g.149978076T>C | CA361704960 | SLC26A2 | n.656T>C c.424T>C (p.Tyr142His) c.97T>C (p.Tyr33His) | COSMIC |
5 | g.149978076T>G | CA361704961 | SLC26A2 | n.656T>G c.424T>G (p.Tyr142Asp) c.97T>G (p.Tyr33Asp) | |
5 | g.149978077A>C | CA361704962 | SLC26A2 | n.657A>C c.425A>C (p.Tyr142Ser) c.98A>C (p.Tyr33Ser) | |
5 | g.149978077A>G | CA361704963 | SLC26A2 | n.657A>G c.425A>G (p.Tyr142Cys) c.98A>G (p.Tyr33Cys) | |
5 | g.149978077A>T | CA361704964 | SLC26A2 | n.657A>T c.425A>T (p.Tyr142Phe) c.98A>T (p.Tyr33Phe) | |
5 | g.149978077_149978078insTTGAT | CA2543984931 | SLC26A2 | n.657_658insTTGAT c.425_426insTTGAT (p.Thr143Ter) c.98_99insTTGAT (p.Thr34Ter) | |
5 | g.149978078C>A | CA361704966 | SLC26A2 | n.658C>A c.426C>A (p.Tyr142Ter) c.99C>A (p.Tyr33Ter) | ClinVar |
5 | g.149978078C>G | CA361704965 | SLC26A2 | n.658C>G c.426C>G (p.Tyr142Ter) c.99C>G (p.Tyr33Ter) | |
5 | g.149978078C>T | CA447401978 | SLC26A2 | n.658C>T c.426C>T (p.Tyr142=) c.99C>T (p.Tyr33=) | ClinVar dbSNP |
5 | g.149978079A= | CA1590737394 | SLC26A2 | n.659A= c.427A= (p.Thr143=) c.100A= (p.Thr34=) | |
5 | g.149978079A>C | CA361704967 | SLC26A2 | n.659A>C c.427A>C (p.Thr143Pro) c.100A>C (p.Thr34Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978079A>G | CA361704968 | SLC26A2 | n.659A>G c.427A>G (p.Thr143Ala) c.100A>G (p.Thr34Ala) | gnomAD v4 |
5 | g.149978079A>T | CA361704969 | SLC26A2 | n.659A>T c.427A>T (p.Thr143Ser) c.100A>T (p.Thr34Ser) | |
5 | g.149978080C>A | CA3505246 | SLC26A2 | n.660C>A c.428C>A (p.Thr143Lys) c.101C>A (p.Thr34Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978080C= | CA1590737395 | SLC26A2 | n.660C= c.428C= (p.Thr143=) c.101C= (p.Thr34=) | |
5 | g.149978080C>G | CA361704970 | SLC26A2 | n.660C>G c.428C>G (p.Thr143Arg) c.101C>G (p.Thr34Arg) | |
5 | g.149978080C>T | CA361704971 | SLC26A2 | n.660C>T c.428C>T (p.Thr143Ile) c.101C>T (p.Thr34Ile) | gnomAD v4 |
5 | g.149978081A= | CA1590737396 | SLC26A2 | n.661A= c.429A= (p.Thr143=) c.102A= (p.Thr34=) | |
5 | g.149978081A>C | CA447401982 | SLC26A2 | n.661A>C c.429A>C (p.Thr143=) c.102A>C (p.Thr34=) | |
5 | g.149978081A>G | CA447401983 | SLC26A2 | n.661A>G c.429A>G (p.Thr143=) c.102A>G (p.Thr34=) | |
5 | g.149978081A>T | CA447401984 | SLC26A2 | n.661A>T c.429A>T (p.Thr143=) c.102A>T (p.Thr34=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978082T>A | CA361704972 | SLC26A2 | n.662T>A c.430T>A (p.Ser144Thr) c.103T>A (p.Ser35Thr) | gnomAD v4 |
5 | g.149978082T>C | CA361704974 | SLC26A2 | n.662T>C c.430T>C (p.Ser144Pro) c.103T>C (p.Ser35Pro) | gnomAD v4 |
5 | g.149978082T>G | CA361704973 | SLC26A2 | n.662T>G c.430T>G (p.Ser144Ala) c.103T>G (p.Ser35Ala) | |
5 | g.149978083_149978084del | CA913108442 | SLC26A2 | n.663_664del c.431_432del (p.Ser144PhefsTer30) c.104_105del (p.Ser35PhefsTer30) | |
5 | g.149978083C>A | CA361704975 | SLC26A2 | n.663C>A c.431C>A (p.Ser144Tyr) c.104C>A (p.Ser35Tyr) | ClinVar dbSNP gnomAD v2 |
5 | g.149978083C= | CA1590737398 | SLC26A2 | n.663C= c.431C= (p.Ser144=) c.104C= (p.Ser35=) | |
5 | g.149978083C>G | CA361704977 | SLC26A2 | n.663C>G c.431C>G (p.Ser144Cys) c.104C>G (p.Ser35Cys) | |
5 | g.149978083C>T | CA361704976 | SLC26A2 | n.663C>T c.431C>T (p.Ser144Phe) c.104C>T (p.Ser35Phe) | |
5 | g.149978083_149978084delinsCT | CA1590737397 | SLC26A2 | n.663_664delinsCT c.431_432delinsCT (p.Ser144=) c.104_105delinsCT (p.Ser35=) | |
5 | g.149978084T>A | CA447401985 | SLC26A2 | n.664T>A c.432T>A (p.Ser144=) c.105T>A (p.Ser35=) | |
5 | g.149978084T>C | CA447401986 | SLC26A2 | n.664T>C c.432T>C (p.Ser144=) c.105T>C (p.Ser35=) | |
5 | g.149978084T>G | CA447401987 | SLC26A2 | n.664T>G c.432T>G (p.Ser144=) c.105T>G (p.Ser35=) | |
5 | g.149978090dup | CA3505247 | SLC26A2 | n.670dup c.438dup (p.Ala147CysfsTer28) c.111dup (p.Ala38CysfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978090del | CA447401988 | SLC26A2 | n.670del c.438del (p.Phe146LeufsTer26) c.111del (p.Phe37LeufsTer26) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.149978085T>A | CA361704979 | SLC26A2 | n.665T>A c.433T>A (p.Phe145Ile) c.106T>A (p.Phe36Ile) | |
5 | g.149978085T>C | CA361704978 | SLC26A2 | n.665T>C c.433T>C (p.Phe145Leu) c.106T>C (p.Phe36Leu) | |
5 | g.149978085T>G | CA361704980 | SLC26A2 | n.665T>G c.433T>G (p.Phe145Val) c.106T>G (p.Phe36Val) | |
5 | g.149978086T>A | CA361704981 | SLC26A2 | n.666T>A c.434T>A (p.Phe145Tyr) c.107T>A (p.Phe36Tyr) | |
5 | g.149978086T>C | CA361704982 | SLC26A2 | n.666T>C c.434T>C (p.Phe145Ser) c.107T>C (p.Phe36Ser) | |
5 | g.149978086T>G | CA361704983 | SLC26A2 | n.666T>G c.434T>G (p.Phe145Cys) c.107T>G (p.Phe36Cys) | |
5 | g.149978087T>A | CA361704984 | SLC26A2 | n.667T>A c.435T>A (p.Phe145Leu) c.108T>A (p.Phe36Leu) | |
5 | g.149978087T>C | CA447401989 | SLC26A2 | n.667T>C c.435T>C (p.Phe145=) c.108T>C (p.Phe36=) | |
5 | g.149978087T>G | CA361704985 | SLC26A2 | n.667T>G c.435T>G (p.Phe145Leu) c.108T>G (p.Phe36Leu) | |
5 | g.149978088T>A | CA361704986 | SLC26A2 | n.668T>A c.436T>A (p.Phe146Ile) c.109T>A (p.Phe37Ile) | |
5 | g.149978088T>C | CA361704987 | SLC26A2 | n.668T>C c.436T>C (p.Phe146Leu) c.109T>C (p.Phe37Leu) | |
5 | g.149978088T>G | CA361704988 | SLC26A2 | n.668T>G c.436T>G (p.Phe146Val) c.109T>G (p.Phe37Val) | |
5 | g.149978089T>A | CA361704989 | SLC26A2 | n.669T>A c.437T>A (p.Phe146Tyr) c.110T>A (p.Phe37Tyr) | |
5 | g.149978089T>C | CA361704990 | SLC26A2 | n.669T>C c.437T>C (p.Phe146Ser) c.110T>C (p.Phe37Ser) | |
5 | g.149978089T>G | CA361704991 | SLC26A2 | n.669T>G c.437T>G (p.Phe146Cys) c.110T>G (p.Phe37Cys) | |
5 | g.149978090T>A | CA361704993 | SLC26A2 | n.670T>A c.438T>A (p.Phe146Leu) c.111T>A (p.Phe37Leu) | |
5 | g.149978090T>C | CA447401990 | SLC26A2 | n.670T>C c.438T>C (p.Phe146=) c.111T>C (p.Phe37=) | |
5 | g.149978090T>G | CA361704992 | SLC26A2 | n.670T>G c.438T>G (p.Phe146Leu) c.111T>G (p.Phe37Leu) | |
5 | g.149978090_149978100delinsTGCCAGCATCA | CA1590737399 | SLC26A2 | n.670_680delinsTGCCAGCATCA c.438_448delinsTGCCAGCATCA (p.Phe146=) c.111_121delinsTGCCAGCATCA (p.Phe37=) | |
5 | g.149978091G>A | CA361704994 | SLC26A2 | n.671G>A c.439G>A (p.Ala147Thr) c.112G>A (p.Ala38Thr) | |
5 | g.149978091G>C | CA361704995 | SLC26A2 | n.671G>C c.439G>C (p.Ala147Pro) c.112G>C (p.Ala38Pro) | |
5 | g.149978091G= | CA1590737400 | SLC26A2 | n.671G= c.439G= (p.Ala147=) c.112G= (p.Ala38=) | |
5 | g.149978091G>T | CA3505248 | SLC26A2 | n.671G>T c.439G>T (p.Ala147Ser) c.112G>T (p.Ala38Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978091_149978100del | CA563955678 | SLC26A2 | n.671_680del c.439_448del (p.Ala147PhefsTer22) c.112_121del (p.Ala38PhefsTer22) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978092C>A | CA361704996 | SLC26A2 | n.672C>A c.440C>A (p.Ala147Asp) c.113C>A (p.Ala38Asp) | |
5 | g.149978092C>G | CA361704997 | SLC26A2 | n.672C>G c.440C>G (p.Ala147Gly) c.113C>G (p.Ala38Gly) | |
5 | g.149978092C>T | CA361704998 | SLC26A2 | n.672C>T c.440C>T (p.Ala147Val) c.113C>T (p.Ala38Val) | gnomAD v4 |
5 | g.149978093del | CA2578449447 | SLC26A2 | n.673del c.441del (p.Ser148AlafsTer24) c.114del (p.Ser39AlafsTer24) | |
5 | g.149978093C>A | CA447401991 | SLC26A2 | n.673C>A c.441C>A (p.Ala147=) c.114C>A (p.Ala38=) | |
5 | g.149978093C>G | CA447401992 | SLC26A2 | n.673C>G c.441C>G (p.Ala147=) c.114C>G (p.Ala38=) | ClinVar |
5 | g.149978093C>T | CA447401993 | SLC26A2 | n.673C>T c.441C>T (p.Ala147=) c.114C>T (p.Ala38=) | |
5 | g.149978094A>C | CA361704999 | SLC26A2 | n.674A>C c.442A>C (p.Ser148Arg) c.115A>C (p.Ser39Arg) | |
5 | g.149978094A>G | CA361705000 | SLC26A2 | n.674A>G c.442A>G (p.Ser148Gly) c.115A>G (p.Ser39Gly) | gnomAD v4 |
5 | g.149978094A>T | CA361705001 | SLC26A2 | n.674A>T c.442A>T (p.Ser148Cys) c.115A>T (p.Ser39Cys) | |
5 | g.149978095G>A | CA361705002 | SLC26A2 | n.675G>A c.443G>A (p.Ser148Asn) c.116G>A (p.Ser39Asn) | |
5 | g.149978095G>C | CA361705003 | SLC26A2 | n.675G>C c.443G>C (p.Ser148Thr) c.116G>C (p.Ser39Thr) | dbSNP |
5 | g.149978095G= | CA1590737401 | SLC26A2 | n.675G= c.443G= (p.Ser148=) c.116G= (p.Ser39=) | |
5 | g.149978095G>T | CA361705004 | SLC26A2 | n.675G>T c.443G>T (p.Ser148Ile) c.116G>T (p.Ser39Ile) | gnomAD v4 |
5 | g.149978096C>A | CA361705006 | SLC26A2 | n.676C>A c.444C>A (p.Ser148Arg) c.117C>A (p.Ser39Arg) | |
5 | g.149978096C>G | CA361705005 | SLC26A2 | n.676C>G c.444C>G (p.Ser148Arg) c.117C>G (p.Ser39Arg) | |
5 | g.149978096C>T | CA447401994 | SLC26A2 | n.676C>T c.444C>T (p.Ser148=) c.117C>T (p.Ser39=) | |
5 | g.149978097A>C | CA361705007 | SLC26A2 | n.677A>C c.445A>C (p.Ile149Leu) c.118A>C (p.Ile40Leu) | |
5 | g.149978097A>G | CA361705008 | SLC26A2 | n.677A>G c.445A>G (p.Ile149Val) c.118A>G (p.Ile40Val) | |
5 | g.149978097A>T | CA361705009 | SLC26A2 | n.677A>T c.445A>T (p.Ile149Phe) c.118A>T (p.Ile40Phe) | |
5 | g.149978098T>A | CA361705010 | SLC26A2 | n.678T>A c.446T>A (p.Ile149Asn) c.119T>A (p.Ile40Asn) | |
5 | g.149978098T>C | CA361705011 | SLC26A2 | n.678T>C c.446T>C (p.Ile149Thr) c.119T>C (p.Ile40Thr) | dbSNP gnomAD v4 |
5 | g.149978098T>G | CA361705012 | SLC26A2 | n.678T>G c.446T>G (p.Ile149Ser) c.119T>G (p.Ile40Ser) | |
5 | g.149978098T= | CA1590737402 | SLC26A2 | n.678T= c.446T= (p.Ile149=) c.119T= (p.Ile40=) | |
5 | g.149978099C>A | CA447401995 | SLC26A2 | n.679C>A c.447C>A (p.Ile149=) c.120C>A (p.Ile40=) | |
5 | g.149978099C= | CA1590737403 | SLC26A2 | n.679C= c.447C= (p.Ile149=) c.120C= (p.Ile40=) | |
5 | g.149978099C>G | CA361705013 | SLC26A2 | n.679C>G c.447C>G (p.Ile149Met) c.120C>G (p.Ile40Met) | |
5 | g.149978099C>T | CA447401996 | SLC26A2 | n.679C>T c.447C>T (p.Ile149=) c.120C>T (p.Ile40=) | dbSNP gnomAD v4 COSMIC |
5 | g.149978100A= | CA1590737404 | SLC26A2 | n.680A= c.448A= (p.Ile150=) c.121A= (p.Ile41=) | |
5 | g.149978100A>C | CA361705014 | SLC26A2 | n.680A>C c.448A>C (p.Ile150Leu) c.121A>C (p.Ile41Leu) | |
5 | g.149978100A>G | CA3505249 | SLC26A2 | n.680A>G c.448A>G (p.Ile150Val) c.121A>G (p.Ile41Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978100A>T | CA361705015 | SLC26A2 | n.680A>T c.448A>T (p.Ile150Phe) c.121A>T (p.Ile41Phe) | |
5 | g.149978100_149978101delinsAT | CA1590737405 | SLC26A2 | n.680_681delinsAT c.448_449delinsAT (p.Ile150=) c.121_122delinsAT (p.Ile41=) | |
5 | g.149978101T>A | CA361705018 | SLC26A2 | n.681T>A c.449T>A (p.Ile150Asn) c.122T>A (p.Ile41Asn) | |
5 | g.149978101T>C | CA361705017 | SLC26A2 | n.681T>C c.449T>C (p.Ile150Thr) c.122T>C (p.Ile41Thr) | dbSNP gnomAD v4 |
5 | g.149978101T>G | CA361705016 | SLC26A2 | n.681T>G c.449T>G (p.Ile150Ser) c.122T>G (p.Ile41Ser) | |
5 | g.149978101T= | CA1590737406 | SLC26A2 | n.681T= c.449T= (p.Ile150=) c.122T= (p.Ile41=) | |
5 | g.149978103del | CA274352 | SLC26A2 | n.683del c.451del (p.Tyr151IlefsTer21) c.124del (p.Tyr42IlefsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978102T>A | CA447401997 | SLC26A2 | n.682T>A c.450T>A (p.Ile150=) c.123T>A (p.Ile41=) | |
5 | g.149978102T>C | CA447401998 | SLC26A2 | n.682T>C c.450T>C (p.Ile150=) c.123T>C (p.Ile41=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978102T>G | CA361705019 | SLC26A2 | n.682T>G c.450T>G (p.Ile150Met) c.123T>G (p.Ile41Met) | |
5 | g.149978102T= | CA1590737407 | SLC26A2 | n.682T= c.450T= (p.Ile150=) c.123T= (p.Ile41=) | |
5 | g.149978103T>A | CA361705020 | SLC26A2 | n.683T>A c.451T>A (p.Tyr151Asn) c.124T>A (p.Tyr42Asn) | |
5 | g.149978103T>C | CA361705021 | SLC26A2 | n.683T>C c.451T>C (p.Tyr151His) c.124T>C (p.Tyr42His) | |
5 | g.149978103T>G | CA361705022 | SLC26A2 | n.683T>G c.451T>G (p.Tyr151Asp) c.124T>G (p.Tyr42Asp) | |
5 | g.149978104A>C | CA361705023 | SLC26A2 | n.684A>C c.452A>C (p.Tyr151Ser) c.125A>C (p.Tyr42Ser) | |
5 | g.149978104A>G | CA361705024 | SLC26A2 | n.684A>G c.452A>G (p.Tyr151Cys) c.125A>G (p.Tyr42Cys) | gnomAD v4 |
5 | g.149978104A>T | CA361705025 | SLC26A2 | n.684A>T c.452A>T (p.Tyr151Phe) c.125A>T (p.Tyr42Phe) | |
5 | g.149978105T>A | CA361705026 | SLC26A2 | n.685T>A c.453T>A (p.Tyr151Ter) c.126T>A (p.Tyr42Ter) | |
5 | g.149978105T>C | CA447401999 | SLC26A2 | n.685T>C c.453T>C (p.Tyr151=) c.126T>C (p.Tyr42=) | |
5 | g.149978105T>G | CA361705027 | SLC26A2 | n.685T>G c.453T>G (p.Tyr151Ter) c.126T>G (p.Tyr42Ter) | |
5 | g.149978106T>A | CA361705028 | SLC26A2 | n.686T>A c.454T>A (p.Phe152Ile) c.127T>A (p.Phe43Ile) | gnomAD v4 |
5 | g.149978106T>C | CA361705029 | SLC26A2 | n.686T>C c.454T>C (p.Phe152Leu) c.127T>C (p.Phe43Leu) | |
5 | g.149978106T>G | CA361705030 | SLC26A2 | n.686T>G c.454T>G (p.Phe152Val) c.127T>G (p.Phe43Val) | |
5 | g.149978107T>A | CA361705032 | SLC26A2 | n.687T>A c.455T>A (p.Phe152Tyr) c.128T>A (p.Phe43Tyr) | |
5 | g.149978107T>C | CA361705033 | SLC26A2 | n.687T>C c.455T>C (p.Phe152Ser) c.128T>C (p.Phe43Ser) | |
5 | g.149978107T>G | CA361705031 | SLC26A2 | n.687T>G c.455T>G (p.Phe152Cys) c.128T>G (p.Phe43Cys) | |
5 | g.149978108T>A | CA361705035 | SLC26A2 | n.688T>A c.456T>A (p.Phe152Leu) c.129T>A (p.Phe43Leu) | |
5 | g.149978108T>C | CA447402000 | SLC26A2 | n.688T>C c.456T>C (p.Phe152=) c.129T>C (p.Phe43=) | |
5 | g.149978108T>G | CA361705034 | SLC26A2 | n.688T>G c.456T>G (p.Phe152Leu) c.129T>G (p.Phe43Leu) | |
5 | g.149978109C>A | CA361705036 | SLC26A2 | n.689C>A c.457C>A (p.Leu153Ile) c.130C>A (p.Leu44Ile) | gnomAD v4 |
5 | g.149978109C>G | CA361705037 | SLC26A2 | n.689C>G c.457C>G (p.Leu153Val) c.130C>G (p.Leu44Val) | |
5 | g.149978109C>T | CA361705038 | SLC26A2 | n.689C>T c.457C>T (p.Leu153Phe) c.130C>T (p.Leu44Phe) | |
5 | g.149978110T>A | CA361705039 | SLC26A2 | n.690T>A c.458T>A (p.Leu153His) c.131T>A (p.Leu44His) | |
5 | g.149978110T>C | CA361705040 | SLC26A2 | n.690T>C c.458T>C (p.Leu153Pro) c.131T>C (p.Leu44Pro) | gnomAD v4 |
5 | g.149978110T>G | CA361705041 | SLC26A2 | n.690T>G c.458T>G (p.Leu153Arg) c.131T>G (p.Leu44Arg) | |
5 | g.149978111C>A | CA447402003 | SLC26A2 | n.691C>A c.459C>A (p.Leu153=) c.132C>A (p.Leu44=) | |
5 | g.149978111C= | CA1590737408 | SLC26A2 | n.691C= c.459C= (p.Leu153=) c.132C= (p.Leu44=) | |
5 | g.149978111C>G | CA447402002 | SLC26A2 | n.691C>G c.459C>G (p.Leu153=) c.132C>G (p.Leu44=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978111C>T | CA447402001 | SLC26A2 | n.691C>T c.459C>T (p.Leu153=) c.132C>T (p.Leu44=) | |
5 | g.149978112T>A | CA361705042 | SLC26A2 | n.692T>A c.460T>A (p.Leu154Met) c.133T>A (p.Leu45Met) | |
5 | g.149978112T>C | CA447402004 | SLC26A2 | n.692T>C c.460T>C (p.Leu154=) c.133T>C (p.Leu45=) | gnomAD v4 |
5 | g.149978112T>G | CA361705043 | SLC26A2 | n.692T>G c.460T>G (p.Leu154Val) c.133T>G (p.Leu45Val) | |
5 | g.149978113T>A | CA361705044 | SLC26A2 | n.693T>A c.461T>A (p.Leu154Ter) c.134T>A (p.Leu45Ter) | |
5 | g.149978113T>C | CA361705045 | SLC26A2 | n.693T>C c.461T>C (p.Leu154Ser) c.134T>C (p.Leu45Ser) | |
5 | g.149978113T>G | CA361705046 | SLC26A2 | n.693T>G c.461T>G (p.Leu154Trp) c.134T>G (p.Leu45Trp) | |
5 | g.149978114G>A | CA447402005 | SLC26A2 | n.694G>A c.462G>A (p.Leu154=) c.135G>A (p.Leu45=) | dbSNP |
5 | g.149978114G>C | CA3505250 | SLC26A2 | n.694G>C c.462G>C (p.Leu154Phe) c.135G>C (p.Leu45Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978114G= | CA1590737409 | SLC26A2 | n.694G= c.462G= (p.Leu154=) c.135G= (p.Leu45=) | |
5 | g.149978114G>T | CA361705047 | SLC26A2 | n.694G>T c.462G>T (p.Leu154Phe) c.135G>T (p.Leu45Phe) | |
5 | g.149978115G>A | CA361705048 | SLC26A2 | n.695G>A c.463G>A (p.Gly155Ser) c.136G>A (p.Gly46Ser) | |
5 | g.149978115G>C | CA361705050 | SLC26A2 | n.695G>C c.463G>C (p.Gly155Arg) c.136G>C (p.Gly46Arg) | |
5 | g.149978115G>T | CA361705049 | SLC26A2 | n.695G>T c.463G>T (p.Gly155Cys) c.136G>T (p.Gly46Cys) | |
5 | g.149978116G>A | CA361705051 | SLC26A2 | n.696G>A c.464G>A (p.Gly155Asp) c.137G>A (p.Gly46Asp) | dbSNP gnomAD v4 |
5 | g.149978116G>C | CA361705052 | SLC26A2 | n.696G>C c.464G>C (p.Gly155Ala) c.137G>C (p.Gly46Ala) | |
5 | g.149978116G= | CA1590737410 | SLC26A2 | n.696G= c.464G= (p.Gly155=) c.137G= (p.Gly46=) | |
5 | g.149978116G>T | CA361705053 | SLC26A2 | n.696G>T c.464G>T (p.Gly155Val) c.137G>T (p.Gly46Val) | |
5 | g.149978117T>A | CA447402008 | SLC26A2 | n.697T>A c.465T>A (p.Gly155=) c.138T>A (p.Gly46=) | |
5 | g.149978117T>C | CA447402006 | SLC26A2 | n.697T>C c.465T>C (p.Gly155=) c.138T>C (p.Gly46=) | COSMIC |
5 | g.149978117T>G | CA447402007 | SLC26A2 | n.697T>G c.465T>G (p.Gly155=) c.138T>G (p.Gly46=) | |
5 | g.149978118A= | CA1590737411 | SLC26A2 | n.698A= c.466A= (p.Thr156=) c.139A= (p.Thr47=) | |
5 | g.149978118A>C | CA361705054 | SLC26A2 | n.698A>C c.466A>C (p.Thr156Pro) c.139A>C (p.Thr47Pro) | |
5 | g.149978118A>G | CA361705055 | SLC26A2 | n.698A>G c.466A>G (p.Thr156Ala) c.139A>G (p.Thr47Ala) | dbSNP |
5 | g.149978118A>T | CA361705056 | SLC26A2 | n.698A>T c.466A>T (p.Thr156Ser) c.139A>T (p.Thr47Ser) | |
5 | g.149978119C>A | CA3505251 | SLC26A2 | n.699C>A c.467C>A (p.Thr156Asn) c.140C>A (p.Thr47Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978119C= | CA1590737412 | SLC26A2 | n.699C= c.467C= (p.Thr156=) c.140C= (p.Thr47=) | |
5 | g.149978119C>G | CA361705057 | SLC26A2 | n.699C>G c.467C>G (p.Thr156Ser) c.140C>G (p.Thr47Ser) | |
5 | g.149978119C>T | CA129082524 | SLC26A2 | n.699C>T c.467C>T (p.Thr156Ile) c.140C>T (p.Thr47Ile) | dbSNP |
5 | g.149978120C>A | CA447402009 | SLC26A2 | n.700C>A c.468C>A (p.Thr156=) c.141C>A (p.Thr47=) | |
5 | g.149978120C= | CA1590737413 | SLC26A2 | n.700C= c.468C= (p.Thr156=) c.141C= (p.Thr47=) | |
5 | g.149978120C>G | CA447402010 | SLC26A2 | n.700C>G c.468C>G (p.Thr156=) c.141C>G (p.Thr47=) | |
5 | g.149978120C>T | CA3505252 | SLC26A2 | n.700C>T c.468C>T (p.Thr156=) c.141C>T (p.Thr47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978121T>A | CA361705059 | SLC26A2 | n.701T>A c.469T>A (p.Ser157Thr) c.142T>A (p.Ser48Thr) | ClinVar gnomAD v4 |
5 | g.149978121T>C | CA3505253 | SLC26A2 | n.701T>C c.469T>C (p.Ser157Pro) c.142T>C (p.Ser48Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978121T>G | CA361705058 | SLC26A2 | n.701T>G c.469T>G (p.Ser157Ala) c.142T>G (p.Ser48Ala) | |
5 | g.149978121T= | CA1590737414 | SLC26A2 | n.701T= c.469T= (p.Ser157=) c.142T= (p.Ser48=) | |
5 | g.149978122C>A | CA361705060 | SLC26A2 | n.702C>A c.470C>A (p.Ser157Tyr) c.143C>A (p.Ser48Tyr) | |
5 | g.149978122C= | CA1590737415 | SLC26A2 | n.702C= c.470C= (p.Ser157=) c.143C= (p.Ser48=) | |
5 | g.149978122C>G | CA361705061 | SLC26A2 | n.702C>G c.470C>G (p.Ser157Cys) c.143C>G (p.Ser48Cys) | |
5 | g.149978122C>T | CA361705062 | SLC26A2 | n.702C>T c.470C>T (p.Ser157Phe) c.143C>T (p.Ser48Phe) | dbSNP COSMIC |
5 | g.149978123C>A | CA447402013 | SLC26A2 | n.703C>A c.471C>A (p.Ser157=) c.144C>A (p.Ser48=) | |
5 | g.149978123C>G | CA447402011 | SLC26A2 | n.703C>G c.471C>G (p.Ser157=) c.144C>G (p.Ser48=) | |
5 | g.149978123C>T | CA447402012 | SLC26A2 | n.703C>T c.471C>T (p.Ser157=) c.144C>T (p.Ser48=) | |
5 | g.149978124C>A | CA361705063 | SLC26A2 | n.704C>A c.472C>A (p.Arg158Ser) c.145C>A (p.Arg49Ser) | |
5 | g.149978124C= | CA1590737416 | SLC26A2 | n.704C= c.472C= (p.Arg158=) c.145C= (p.Arg49=) | |
5 | g.149978124C>G | CA361705064 | SLC26A2 | n.704C>G c.472C>G (p.Arg158Gly) c.145C>G (p.Arg49Gly) | |
5 | g.149978124C>T | CA3505254 | SLC26A2 | n.704C>T c.472C>T (p.Arg158Cys) c.145C>T (p.Arg49Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978125G>A | CA3505255 | SLC26A2 | n.705G>A c.473G>A (p.Arg158His) c.146G>A (p.Arg49His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978125G>C | CA361705065 | SLC26A2 | n.705G>C c.473G>C (p.Arg158Pro) c.146G>C (p.Arg49Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978125G= | CA1590737417 | SLC26A2 | n.705G= c.473G= (p.Arg158=) c.146G= (p.Arg49=) | |
5 | g.149978125G>T | CA361705066 | SLC26A2 | n.705G>T c.473G>T (p.Arg158Leu) c.146G>T (p.Arg49Leu) | ClinVar dbSNP |
5 | g.149978126T>A | CA447402014 | SLC26A2 | n.706T>A c.474T>A (p.Arg158=) c.147T>A (p.Arg49=) | |
5 | g.149978126T>C | CA3505256 | SLC26A2 | n.706T>C c.474T>C (p.Arg158=) c.147T>C (p.Arg49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978126T>G | CA447402015 | SLC26A2 | n.706T>G c.474T>G (p.Arg158=) c.147T>G (p.Arg49=) | |
5 | g.149978126T= | CA1590737418 | SLC26A2 | n.706T= c.474T= (p.Arg158=) c.147T= (p.Arg49=) | |
5 | g.149978127C>A | CA361705067 | SLC26A2 | n.707C>A c.475C>A (p.His159Asn) c.148C>A (p.His50Asn) | |
5 | g.149978127C>G | CA361705068 | SLC26A2 | n.707C>G c.475C>G (p.His159Asp) c.148C>G (p.His50Asp) | |
5 | g.149978127C>T | CA361705069 | SLC26A2 | n.707C>T c.475C>T (p.His159Tyr) c.148C>T (p.His50Tyr) | |
5 | g.149978128A>C | CA361705072 | SLC26A2 | n.708A>C c.476A>C (p.His159Pro) c.149A>C (p.His50Pro) | |
5 | g.149978128A>G | CA361705070 | SLC26A2 | n.708A>G c.476A>G (p.His159Arg) c.149A>G (p.His50Arg) | |
5 | g.149978128A>T | CA361705071 | SLC26A2 | n.708A>T c.476A>T (p.His159Leu) c.149A>T (p.His50Leu) | |
5 | g.149978129C>A | CA361705073 | SLC26A2 | n.709C>A c.477C>A (p.His159Gln) c.150C>A (p.His50Gln) | gnomAD v4 |
5 | g.149978129C= | CA1590737419 | SLC26A2 | n.709C= c.477C= (p.His159=) c.150C= (p.His50=) | |
5 | g.149978129C>G | CA361705074 | SLC26A2 | n.709C>G c.477C>G (p.His159Gln) c.150C>G (p.His50Gln) | |
5 | g.149978129C>T | CA3505257 | SLC26A2 | n.709C>T c.477C>T (p.His159=) c.150C>T (p.His50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978130A= | CA1590737420 | SLC26A2 | n.710A= c.478A= (p.Ile160=) c.151A= (p.Ile51=) | |
5 | g.149978130A>C | CA361705075 | SLC26A2 | n.710A>C c.478A>C (p.Ile160Leu) c.151A>C (p.Ile51Leu) | |
5 | g.149978130A>G | CA3505258 | SLC26A2 | n.710A>G c.478A>G (p.Ile160Val) c.151A>G (p.Ile51Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978130A>T | CA361705076 | SLC26A2 | n.710A>T c.478A>T (p.Ile160Phe) c.151A>T (p.Ile51Phe) | |
5 | g.149978131T>A | CA361705077 | SLC26A2 | n.711T>A c.479T>A (p.Ile160Asn) c.152T>A (p.Ile51Asn) | |
5 | g.149978131T>C | CA361705078 | SLC26A2 | n.711T>C c.479T>C (p.Ile160Thr) c.152T>C (p.Ile51Thr) | |
5 | g.149978131T>G | CA361705079 | SLC26A2 | n.711T>G c.479T>G (p.Ile160Ser) c.152T>G (p.Ile51Ser) | |
5 | g.149978132C>A | CA447402016 | SLC26A2 | n.712C>A c.480C>A (p.Ile160=) c.153C>A (p.Ile51=) | ClinVar |
5 | g.149978132C>G | CA361705080 | SLC26A2 | n.712C>G c.480C>G (p.Ile160Met) c.153C>G (p.Ile51Met) | |
5 | g.149978132C>T | CA447402017 | SLC26A2 | n.712C>T c.480C>T (p.Ile160=) c.153C>T (p.Ile51=) | |
5 | g.149978133T>A | CA361705081 | SLC26A2 | n.713T>A c.481T>A (p.Ser161Thr) c.154T>A (p.Ser52Thr) | |
5 | g.149978133T>C | CA361705082 | SLC26A2 | n.713T>C c.481T>C (p.Ser161Pro) c.154T>C (p.Ser52Pro) | dbSNP gnomAD v4 |
5 | g.149978133T>G | CA361705083 | SLC26A2 | n.713T>G c.481T>G (p.Ser161Ala) c.154T>G (p.Ser52Ala) | |
5 | g.149978134C>A | CA361705085 | SLC26A2 | n.714C>A c.482C>A (p.Ser161Tyr) c.155C>A (p.Ser52Tyr) | |
5 | g.149978134C>G | CA361705086 | SLC26A2 | n.714C>G c.482C>G (p.Ser161Cys) c.155C>G (p.Ser52Cys) | |
5 | g.149978134C>T | CA361705084 | SLC26A2 | n.714C>T c.482C>T (p.Ser161Phe) c.155C>T (p.Ser52Phe) | COSMIC |
5 | g.149978134_149978136delinsCTG | CA1590737421 | SLC26A2 | n.714_716delinsCTG c.482_484delinsCTG (p.Ser161=) c.155_157delinsCTG (p.Ser52=) | |
5 | g.149978135T>A | CA447402018 | SLC26A2 | n.715T>A c.483T>A (p.Ser161=) c.156T>A (p.Ser52=) | |
5 | g.149978135T>C | CA447402019 | SLC26A2 | n.715T>C c.483T>C (p.Ser161=) c.156T>C (p.Ser52=) | |
5 | g.149978135T>G | CA447402020 | SLC26A2 | n.715T>G c.483T>G (p.Ser161=) c.156T>G (p.Ser52=) | |
5 | g.149978137_149978138del | CA3505259 | SLC26A2 | n.717_718del c.485_486del (p.Val162GlyfsTer12) c.158_159del (p.Val53GlyfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978136G>A | CA361705087 | SLC26A2 | n.716G>A c.484G>A (p.Val162Met) c.157G>A (p.Val53Met) | |
5 | g.149978136G>C | CA361705088 | SLC26A2 | n.716G>C c.484G>C (p.Val162Leu) c.157G>C (p.Val53Leu) | |
5 | g.149978136G= | CA1590737422 | SLC26A2 | n.716G= c.484G= (p.Val162=) c.157G= (p.Val53=) | |
5 | g.149978136G>T | CA3505260 | SLC26A2 | n.716G>T c.484G>T (p.Val162Leu) c.157G>T (p.Val53Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978137T>A | CA361705089 | SLC26A2 | n.717T>A c.485T>A (p.Val162Glu) c.158T>A (p.Val53Glu) | |
5 | g.149978137T>C | CA3505261 | SLC26A2 | n.717T>C c.485T>C (p.Val162Ala) c.158T>C (p.Val53Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978137T>G | CA361705090 | SLC26A2 | n.717T>G c.485T>G (p.Val162Gly) c.158T>G (p.Val53Gly) | |
5 | g.149978137T= | CA1590737423 | SLC26A2 | n.717T= c.485T= (p.Val162=) c.158T= (p.Val53=) | |
5 | g.149978138G>A | CA447402023 | SLC26A2 | n.718G>A c.486G>A (p.Val162=) c.159G>A (p.Val53=) | |
5 | g.149978138G>C | CA447402021 | SLC26A2 | n.718G>C c.486G>C (p.Val162=) c.159G>C (p.Val53=) | |
5 | g.149978138G>T | CA447402022 | SLC26A2 | n.718G>T c.486G>T (p.Val162=) c.159G>T (p.Val53=) | |
5 | g.149978139G>A | CA361705091 | SLC26A2 | n.719G>A c.487G>A (p.Gly163Ser) c.160G>A (p.Gly54Ser) | |
5 | g.149978139G>C | CA361705092 | SLC26A2 | n.719G>C c.487G>C (p.Gly163Arg) c.160G>C (p.Gly54Arg) | |
5 | g.149978139G>T | CA361705093 | SLC26A2 | n.719G>T c.487G>T (p.Gly163Cys) c.160G>T (p.Gly54Cys) | |
5 | g.149978140G>A | CA3505262 | SLC26A2 | n.720G>A c.488G>A (p.Gly163Asp) c.161G>A (p.Gly54Asp) | dbSNP ExAC gnomAD v2 |
5 | g.149978140G>C | CA361705094 | SLC26A2 | n.720G>C c.488G>C (p.Gly163Ala) c.161G>C (p.Gly54Ala) | |
5 | g.149978140G= | CA1590737424 | SLC26A2 | n.720G= c.488G= (p.Gly163=) c.161G= (p.Gly54=) | |
5 | g.149978140G>T | CA361705095 | SLC26A2 | n.720G>T c.488G>T (p.Gly163Val) c.161G>T (p.Gly54Val) | |
5 | g.149978141C>A | CA447402024 | SLC26A2 | n.721C>A c.489C>A (p.Gly163=) c.162C>A (p.Gly54=) | |
5 | g.149978141C>G | CA447402025 | SLC26A2 | n.721C>G c.489C>G (p.Gly163=) c.162C>G (p.Gly54=) | |
5 | g.149978141C>T | CA447402026 | SLC26A2 | n.721C>T c.489C>T (p.Gly163=) c.162C>T (p.Gly54=) | |
5 | g.149978142A= | CA1590737425 | SLC26A2 | n.722A= c.490A= (p.Ile164=) c.163A= (p.Ile55=) | |
5 | g.149978142A>C | CA361705097 | SLC26A2 | n.722A>C c.490A>C (p.Ile164Leu) c.163A>C (p.Ile55Leu) | |
5 | g.149978142A>G | CA3505263 | SLC26A2 | n.722A>G c.490A>G (p.Ile164Val) c.163A>G (p.Ile55Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978142A>T | CA361705096 | SLC26A2 | n.722A>T c.490A>T (p.Ile164Phe) c.163A>T (p.Ile55Phe) | gnomAD v4 |
5 | g.149978143T>A | CA361705098 | SLC26A2 | n.723T>A c.491T>A (p.Ile164Asn) c.164T>A (p.Ile55Asn) | |
5 | g.149978143T>C | CA361705099 | SLC26A2 | n.723T>C c.491T>C (p.Ile164Thr) c.164T>C (p.Ile55Thr) | gnomAD v4 |
5 | g.149978143T>G | CA361705100 | SLC26A2 | n.723T>G c.491T>G (p.Ile164Ser) c.164T>G (p.Ile55Ser) | |
5 | g.149978144T>A | CA447402027 | SLC26A2 | n.724T>A c.492T>A (p.Ile164=) c.165T>A (p.Ile55=) | gnomAD v4 |
5 | g.149978144T>C | CA447402028 | SLC26A2 | n.724T>C c.492T>C (p.Ile164=) c.165T>C (p.Ile55=) | gnomAD v4 |
5 | g.149978144T>G | CA361705101 | SLC26A2 | n.724T>G c.492T>G (p.Ile164Met) c.165T>G (p.Ile55Met) | |
5 | g.149978145T>A | CA361705102 | SLC26A2 | n.725T>A c.493T>A (p.Phe165Ile) c.166T>A (p.Phe56Ile) | |
5 | g.149978145T>C | CA361705103 | SLC26A2 | n.725T>C c.493T>C (p.Phe165Leu) c.166T>C (p.Phe56Leu) | |
5 | g.149978145T>G | CA361705104 | SLC26A2 | n.725T>G c.493T>G (p.Phe165Val) c.166T>G (p.Phe56Val) | gnomAD v4 |
5 | g.149978146T>A | CA361705105 | SLC26A2 | n.726T>A c.494T>A (p.Phe165Tyr) c.167T>A (p.Phe56Tyr) | |
5 | g.149978146T>C | CA361705106 | SLC26A2 | n.726T>C c.494T>C (p.Phe165Ser) c.167T>C (p.Phe56Ser) | |
5 | g.149978146T>G | CA361705107 | SLC26A2 | n.726T>G c.494T>G (p.Phe165Cys) c.167T>G (p.Phe56Cys) | |
5 | g.149978147T>A | CA361705108 | SLC26A2 | n.727T>A c.495T>A (p.Phe165Leu) c.168T>A (p.Phe56Leu) | |
5 | g.149978147T>C | CA447402029 | SLC26A2 | n.727T>C c.495T>C (p.Phe165=) c.168T>C (p.Phe56=) | |
5 | g.149978147T>G | CA361705109 | SLC26A2 | n.727T>G c.495T>G (p.Phe165Leu) c.168T>G (p.Phe56Leu) | |
5 | g.149978148G>A | CA263269 | SLC26A2 | n.728G>A c.496G>A (p.Gly166Arg) c.169G>A (p.Gly57Arg) | ClinVar dbSNP gnomAD v4 |
5 | g.149978148G>C | CA361705111 | SLC26A2 | n.728G>C c.496G>C (p.Gly166Arg) c.169G>C (p.Gly57Arg) | |
5 | g.149978148G= | CA1590737426 | SLC26A2 | n.728G= c.496G= (p.Gly166=) c.169G= (p.Gly57=) | |
5 | g.149978148G>T | CA361705110 | SLC26A2 | n.728G>T c.496G>T (p.Gly166Ter) c.169G>T (p.Gly57Ter) | |
5 | g.149978149G>A | CA361705112 | SLC26A2 | n.729G>A c.497G>A (p.Gly166Glu) c.170G>A (p.Gly57Glu) | |
5 | g.149978149G>C | CA361705113 | SLC26A2 | n.729G>C c.497G>C (p.Gly166Ala) c.170G>C (p.Gly57Ala) | |
5 | g.149978149G>T | CA361705114 | SLC26A2 | n.729G>T c.497G>T (p.Gly166Val) c.170G>T (p.Gly57Val) | |
5 | g.149978150_149978151del | CA913108443 | SLC26A2 | n.730_731del c.498_499del (p.Val167ThrfsTer7) c.171_172del (p.Val58ThrfsTer7) | |
5 | g.149978150A>C | CA447402030 | SLC26A2 | n.730A>C c.498A>C (p.Gly166=) c.171A>C (p.Gly57=) | |
5 | g.149978150A>G | CA447402031 | SLC26A2 | n.730A>G c.498A>G (p.Gly166=) c.171A>G (p.Gly57=) | |
5 | g.149978150A>T | CA447402032 | SLC26A2 | n.730A>T c.498A>T (p.Gly166=) c.171A>T (p.Gly57=) | |
5 | g.149978150_149978151delinsAG | CA1590737427 | SLC26A2 | n.730_731delinsAG c.498_499delinsAG (p.Gly166=) c.171_172delinsAG (p.Gly57=) | |
5 | g.149978151del | CA658822213 | SLC26A2 | n.731del c.499del (p.Val167TyrfsTer5) c.172del (p.Val58TyrfsTer5) | ClinVar dbSNP |
5 | g.149978151G>A | CA361705115 | SLC26A2 | n.731G>A c.499G>A (p.Val167Ile) c.172G>A (p.Val58Ile) | dbSNP gnomAD v2 |
5 | g.149978151G>C | CA361705116 | SLC26A2 | n.731G>C c.499G>C (p.Val167Leu) c.172G>C (p.Val58Leu) | |
5 | g.149978151G= | CA1590737428 | SLC26A2 | n.731G= c.499G= (p.Val167=) c.172G= (p.Val58=) | |
5 | g.149978151G>T | CA361705117 | SLC26A2 | n.731G>T c.499G>T (p.Val167Leu) c.172G>T (p.Val58Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978152T>A | CA361705118 | SLC26A2 | n.732T>A c.500T>A (p.Val167Glu) c.173T>A (p.Val58Glu) | |
5 | g.149978152T>C | CA361705119 | SLC26A2 | n.732T>C c.500T>C (p.Val167Ala) c.173T>C (p.Val58Ala) | |
5 | g.149978152T>G | CA361705120 | SLC26A2 | n.732T>G c.500T>G (p.Val167Gly) c.173T>G (p.Val58Gly) |