Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149978200_149978296dup | CA2768879950 | SLC26A2 | n.780_876dup c.548_644dup (p.Cys216TrpfsTer3) c.221_317dup (p.Cys107TrpfsTer3) | |
5 | g.149978223_149978224delinsTT | CA2695205644 | SLC26A2 | n.803_804delinsTT c.571_572delinsTT (p.Ala191Phe) c.244_245delinsTT (p.Ala82Phe) | |
5 | g.149978223_149978226delinsGCTC | CA1590737463 | SLC26A2 | n.803_806delinsGCTC c.571_574delinsGCTC (p.Ala191=) c.244_247delinsGCTC (p.Ala82=) | |
5 | g.149978224C>A | CA361705272 | SLC26A2 | n.804C>A c.572C>A (p.Ala191Asp) c.245C>A (p.Ala82Asp) | |
5 | g.149978224C= | CA1590737465 | SLC26A2 | n.804C= c.572C= (p.Ala191=) c.245C= (p.Ala82=) | |
5 | g.149978224C>G | CA361705271 | SLC26A2 | n.804C>G c.572C>G (p.Ala191Gly) c.245C>G (p.Ala82Gly) | |
5 | g.149978224C>T | CA3505279 | SLC26A2 | n.804C>T c.572C>T (p.Ala191Val) c.245C>T (p.Ala82Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.149978224_149978228del | CA913108444 | SLC26A2 | n.804_808del c.572_576del (p.Ala191ValfsTer21) c.245_249del (p.Ala82ValfsTer21) | |
5 | g.149978224_149978228delinsCTCCT | CA1590737466 | SLC26A2 | n.804_808delinsCTCCT c.572_576delinsCTCCT (p.Ala191=) c.245_249delinsCTCCT (p.Ala82=) | |
5 | g.149978226_149978228del | CA3505278 | SLC26A2 | n.806_808del c.574_576del (p.Pro192del) c.247_249del (p.Pro83del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978225T>A | CA447402102 | SLC26A2 | n.805T>A c.573T>A (p.Ala191=) c.246T>A (p.Ala82=) | |
5 | g.149978225T>C | CA129082682 | SLC26A2 | n.805T>C c.573T>C (p.Ala191=) c.246T>C (p.Ala82=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978225T>G | CA129082685 | SLC26A2 | n.805T>G c.573T>G (p.Ala191=) c.246T>G (p.Ala82=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978225T= | CA1590737467 | SLC26A2 | n.805T= c.573T= (p.Ala191=) c.246T= (p.Ala82=) | |
5 | g.149978230_149978233del | CA658822214 | SLC26A2 | n.810_813del c.578_581del (p.Ser193Ter) c.251_254del (p.Ser84Ter) | ClinVar dbSNP |
5 | g.149978226C>A | CA361705273 | SLC26A2 | n.806C>A c.574C>A (p.Pro192Thr) c.247C>A (p.Pro83Thr) | |
5 | g.149978226C>G | CA361705274 | SLC26A2 | n.806C>G c.574C>G (p.Pro192Ala) c.247C>G (p.Pro83Ala) | |
5 | g.149978226C>T | CA361705275 | SLC26A2 | n.806C>T c.574C>T (p.Pro192Ser) c.247C>T (p.Pro83Ser) | gnomAD v4 |
5 | g.149978227C>A | CA361705276 | SLC26A2 | n.807C>A c.575C>A (p.Pro192His) c.248C>A (p.Pro83His) | |
5 | g.149978227C= | CA1590737468 | SLC26A2 | n.807C= c.575C= (p.Pro192=) c.248C= (p.Pro83=) | |
5 | g.149978227C>G | CA361705277 | SLC26A2 | n.807C>G c.575C>G (p.Pro192Arg) c.248C>G (p.Pro83Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978227C>T | CA361705278 | SLC26A2 | n.807C>T c.575C>T (p.Pro192Leu) c.248C>T (p.Pro83Leu) | gnomAD v4 |
5 | g.149978227_149978228insCATTTGAAACCA | CA2830539955 | SLC26A2 | n.807_808insCATTTGAAACCA c.575_576insCATTTGAAACCA (p.Pro193IlefsTer2) c.248_249insCATTTGAAACCA (p.Pro84IlefsTer2) | |
5 | g.149978228T>A | CA447402108 | SLC26A2 | n.808T>A c.576T>A (p.Pro192=) c.249T>A (p.Pro83=) | |
5 | g.149978228T>C | CA447402110 | SLC26A2 | n.808T>C c.576T>C (p.Pro192=) c.249T>C (p.Pro83=) | gnomAD v4 |
5 | g.149978228T>G | CA447402111 | SLC26A2 | n.808T>G c.576T>G (p.Pro192=) c.249T>G (p.Pro83=) | |
5 | g.149978229T>A | CA361705279 | SLC26A2 | n.809T>A c.577T>A (p.Ser193Thr) c.250T>A (p.Ser84Thr) | |
5 | g.149978229T>C | CA361705280 | SLC26A2 | n.809T>C c.577T>C (p.Ser193Pro) c.250T>C (p.Ser84Pro) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978229T>G | CA361705281 | SLC26A2 | n.809T>G c.577T>G (p.Ser193Ala) c.250T>G (p.Ser84Ala) | |
5 | g.149978229T= | CA1590737469 | SLC26A2 | n.809T= c.577T= (p.Ser193=) c.250T= (p.Ser84=) | |
5 | g.149978230C>A | CA361705282 | SLC26A2 | n.810C>A c.578C>A (p.Ser193Tyr) c.251C>A (p.Ser84Tyr) | |
5 | g.149978230C>G | CA361705283 | SLC26A2 | n.810C>G c.578C>G (p.Ser193Cys) c.251C>G (p.Ser84Cys) | |
5 | g.149978230C>T | CA361705284 | SLC26A2 | n.810C>T c.578C>T (p.Ser193Phe) c.251C>T (p.Ser84Phe) | |
5 | g.149978231C>A | CA447402116 | SLC26A2 | n.811C>A c.579C>A (p.Ser193=) c.252C>A (p.Ser84=) | |
5 | g.149978231C>G | CA447402117 | SLC26A2 | n.811C>G c.579C>G (p.Ser193=) c.252C>G (p.Ser84=) | gnomAD v4 |
5 | g.149978231C>T | CA447402115 | SLC26A2 | n.811C>T c.579C>T (p.Ser193=) c.252C>T (p.Ser84=) | |
5 | g.149978232T>A | CA361705286 | SLC26A2 | n.812T>A c.580T>A (p.Leu194Ile) c.253T>A (p.Leu85Ile) | |
5 | g.149978232T>C | CA447402119 | SLC26A2 | n.812T>C c.580T>C (p.Leu194=) c.253T>C (p.Leu85=) | |
5 | g.149978232T>G | CA361705285 | SLC26A2 | n.812T>G c.580T>G (p.Leu194Val) c.253T>G (p.Leu85Val) | |
5 | g.149978233_149978239del | CA2768879961 | SLC26A2 | n.813_819del c.581_587del (p.Leu194TrpfsTer9) c.254_260del (p.Leu85TrpfsTer9) | |
5 | g.149978233T>A | CA361705287 | SLC26A2 | n.813T>A c.581T>A (p.Leu194Ter) c.254T>A (p.Leu85Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978233T>C | CA361705288 | SLC26A2 | n.813T>C c.581T>C (p.Leu194Ser) c.254T>C (p.Leu85Ser) | |
5 | g.149978233T>G | CA361705289 | SLC26A2 | n.813T>G c.581T>G (p.Leu194Ter) c.254T>G (p.Leu85Ter) | |
5 | g.149978233T= | CA1590737470 | SLC26A2 | n.813T= c.581T= (p.Leu194=) c.254T= (p.Leu85=) | |
5 | g.149978234A>C | CA361705290 | SLC26A2 | n.814A>C c.582A>C (p.Leu194Phe) c.255A>C (p.Leu85Phe) | |
5 | g.149978234A>G | CA447402123 | SLC26A2 | n.814A>G c.582A>G (p.Leu194=) c.255A>G (p.Leu85=) | |
5 | g.149978234A>T | CA361705291 | SLC26A2 | n.814A>T c.582A>T (p.Leu194Phe) c.255A>T (p.Leu85Phe) | |
5 | g.149978235G>A | CA361705294 | SLC26A2 | n.815G>A c.583G>A (p.Gly195Arg) c.256G>A (p.Gly86Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978235G>C | CA361705293 | SLC26A2 | n.815G>C c.583G>C (p.Gly195Arg) c.256G>C (p.Gly86Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978235G= | CA1590737471 | SLC26A2 | n.815G= c.583G= (p.Gly195=) c.256G= (p.Gly86=) | |
5 | g.149978235G>T | CA361705292 | SLC26A2 | n.815G>T c.583G>T (p.Gly195Ter) c.256G>T (p.Gly86Ter) | |
5 | g.149978236G>A | CA361705295 | SLC26A2 | n.816G>A c.584G>A (p.Gly195Glu) c.257G>A (p.Gly86Glu) | |
5 | g.149978236G>C | CA361705296 | SLC26A2 | n.816G>C c.584G>C (p.Gly195Ala) c.257G>C (p.Gly86Ala) | |
5 | g.149978236G>T | CA361705297 | SLC26A2 | n.816G>T c.584G>T (p.Gly195Val) c.257G>T (p.Gly86Val) | |
5 | g.149978237A>C | CA447402127 | SLC26A2 | n.817A>C c.585A>C (p.Gly195=) c.258A>C (p.Gly86=) | |
5 | g.149978237A>G | CA447402128 | SLC26A2 | n.817A>G c.585A>G (p.Gly195=) c.258A>G (p.Gly86=) | |
5 | g.149978237A>T | CA447402126 | SLC26A2 | n.817A>T c.585A>T (p.Gly195=) c.258A>T (p.Gly86=) | |
5 | g.149978238A>C | CA361705298 | SLC26A2 | n.818A>C c.586A>C (p.Met196Leu) c.259A>C (p.Met87Leu) | COSMIC |
5 | g.149978238A>G | CA361705299 | SLC26A2 | n.818A>G c.586A>G (p.Met196Val) c.259A>G (p.Met87Val) | |
5 | g.149978238A>T | CA361705300 | SLC26A2 | n.818A>T c.586A>T (p.Met196Leu) c.259A>T (p.Met87Leu) | |
5 | g.149978239T>A | CA361705303 | SLC26A2 | n.819T>A c.587T>A (p.Met196Lys) c.260T>A (p.Met87Lys) | |
5 | g.149978239T>C | CA361705301 | SLC26A2 | n.819T>C c.587T>C (p.Met196Thr) c.260T>C (p.Met87Thr) | |
5 | g.149978239T>G | CA361705302 | SLC26A2 | n.819T>G c.587T>G (p.Met196Arg) c.260T>G (p.Met87Arg) | |
5 | g.149978239_149978250del | CA2830539956 | SLC26A2 | n.819_830del c.587_598del (p.Met196_Gly200delinsArg) c.260_271del (p.Met87_Gly91delinsArg) | |
5 | g.149978240G>A | CA361705304 | SLC26A2 | n.820G>A c.588G>A (p.Met196Ile) c.261G>A (p.Met87Ile) | |
5 | g.149978240G>C | CA361705305 | SLC26A2 | n.820G>C c.588G>C (p.Met196Ile) c.261G>C (p.Met87Ile) | |
5 | g.149978240G>T | CA361705306 | SLC26A2 | n.820G>T c.588G>T (p.Met196Ile) c.261G>T (p.Met87Ile) | |
5 | g.149978241G>A | CA361705307 | SLC26A2 | n.821G>A c.589G>A (p.Val197Ile) c.262G>A (p.Val88Ile) | |
5 | g.149978241G>C | CA361705308 | SLC26A2 | n.821G>C c.589G>C (p.Val197Leu) c.262G>C (p.Val88Leu) | |
5 | g.149978241G>T | CA361705309 | SLC26A2 | n.821G>T c.589G>T (p.Val197Phe) c.262G>T (p.Val88Phe) | |
5 | g.149978242T>A | CA361705310 | SLC26A2 | n.822T>A c.590T>A (p.Val197Asp) c.263T>A (p.Val88Asp) | |
5 | g.149978242T>C | CA361705311 | SLC26A2 | n.822T>C c.590T>C (p.Val197Ala) c.263T>C (p.Val88Ala) | |
5 | g.149978242T>G | CA361705312 | SLC26A2 | n.822T>G c.590T>G (p.Val197Gly) c.263T>G (p.Val88Gly) | |
5 | g.149978243T>A | CA447402137 | SLC26A2 | n.823T>A c.591T>A (p.Val197=) c.264T>A (p.Val88=) | |
5 | g.149978243T>C | CA447402133 | SLC26A2 | n.823T>C c.591T>C (p.Val197=) c.264T>C (p.Val88=) | |
5 | g.149978243T>G | CA447402135 | SLC26A2 | n.823T>G c.591T>G (p.Val197=) c.264T>G (p.Val88=) | |
5 | g.149978244T>A | CA361705313 | SLC26A2 | n.824T>A c.592T>A (p.Ser198Thr) c.265T>A (p.Ser89Thr) | |
5 | g.149978244T>C | CA361705314 | SLC26A2 | n.824T>C c.592T>C (p.Ser198Pro) c.265T>C (p.Ser89Pro) | |
5 | g.149978244T>G | CA361705315 | SLC26A2 | n.824T>G c.592T>G (p.Ser198Ala) c.265T>G (p.Ser89Ala) | |
5 | g.149978245C>A | CA361705318 | SLC26A2 | n.825C>A c.593C>A (p.Ser198Ter) c.266C>A (p.Ser89Ter) | gnomAD v4 |
5 | g.149978245C>G | CA361705316 | SLC26A2 | n.825C>G c.593C>G (p.Ser198Ter) c.266C>G (p.Ser89Ter) | |
5 | g.149978245C>T | CA361705317 | SLC26A2 | n.825C>T c.593C>T (p.Ser198Leu) c.266C>T (p.Ser89Leu) | |
5 | g.149978246A>C | CA447402142 | SLC26A2 | n.826A>C c.594A>C (p.Ser198=) c.267A>C (p.Ser89=) | |
5 | g.149978246A>G | CA447402143 | SLC26A2 | n.826A>G c.594A>G (p.Ser198=) c.267A>G (p.Ser89=) | |
5 | g.149978246A>T | CA447402144 | SLC26A2 | n.826A>T c.594A>T (p.Ser198=) c.267A>T (p.Ser89=) | |
5 | g.149978247A= | CA1590737472 | SLC26A2 | n.827A= c.595A= (p.Asn199=) c.268A= (p.Asn90=) | |
5 | g.149978247A>C | CA361705319 | SLC26A2 | n.827A>C c.595A>C (p.Asn199His) c.268A>C (p.Asn90His) | |
5 | g.149978247A>G | CA3505280 | SLC26A2 | n.827A>G c.595A>G (p.Asn199Asp) c.268A>G (p.Asn90Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978247A>T | CA361705320 | SLC26A2 | n.827A>T c.595A>T (p.Asn199Tyr) c.268A>T (p.Asn90Tyr) | |
5 | g.149978248A>C | CA361705321 | SLC26A2 | n.828A>C c.596A>C (p.Asn199Thr) c.269A>C (p.Asn90Thr) | |
5 | g.149978248A>G | CA361705323 | SLC26A2 | n.828A>G c.596A>G (p.Asn199Ser) c.269A>G (p.Asn90Ser) | ClinVar dbSNP |
5 | g.149978248A>T | CA361705322 | SLC26A2 | n.828A>T c.596A>T (p.Asn199Ile) c.269A>T (p.Asn90Ile) | |
5 | g.149978249T>A | CA361705324 | SLC26A2 | n.829T>A c.597T>A (p.Asn199Lys) c.270T>A (p.Asn90Lys) | |
5 | g.149978249T>C | CA447402145 | SLC26A2 | n.829T>C c.597T>C (p.Asn199=) c.270T>C (p.Asn90=) | COSMIC |
5 | g.149978249T>G | CA361705325 | SLC26A2 | n.829T>G c.597T>G (p.Asn199Lys) c.270T>G (p.Asn90Lys) | |
5 | g.149978250G>A | CA361705326 | SLC26A2 | n.830G>A c.598G>A (p.Gly200Arg) c.271G>A (p.Gly91Arg) | |
5 | g.149978250G>C | CA361705327 | SLC26A2 | n.830G>C c.598G>C (p.Gly200Arg) c.271G>C (p.Gly91Arg) | |
5 | g.149978250G>T | CA361705328 | SLC26A2 | n.830G>T c.598G>T (p.Gly200Trp) c.271G>T (p.Gly91Trp) | |
5 | g.149978251G>A | CA361705329 | SLC26A2 | n.831G>A c.599G>A (p.Gly200Glu) c.272G>A (p.Gly91Glu) | dbSNP |
5 | g.149978251G>C | CA361705330 | SLC26A2 | n.831G>C c.599G>C (p.Gly200Ala) c.272G>C (p.Gly91Ala) | |
5 | g.149978251G= | CA1590737473 | SLC26A2 | n.831G= c.599G= (p.Gly200=) c.272G= (p.Gly91=) | |
5 | g.149978251G>T | CA3505281 | SLC26A2 | n.831G>T c.599G>T (p.Gly200Val) c.272G>T (p.Gly91Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978252G>A | CA447402147 | SLC26A2 | n.832G>A c.600G>A (p.Gly200=) c.273G>A (p.Gly91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978252G>C | CA447402148 | SLC26A2 | n.832G>C c.600G>C (p.Gly200=) c.273G>C (p.Gly91=) | |
5 | g.149978252G= | CA1590737474 | SLC26A2 | n.832G= c.600G= (p.Gly200=) c.273G= (p.Gly91=) | |
5 | g.149978252G>T | CA447402149 | SLC26A2 | n.832G>T c.600G>T (p.Gly200=) c.273G>T (p.Gly91=) | |
5 | g.149978253A= | CA1590737475 | SLC26A2 | n.833A= c.601A= (p.Ser201=) c.274A= (p.Ser92=) | |
5 | g.149978253A>C | CA361705331 | SLC26A2 | n.833A>C c.601A>C (p.Ser201Arg) c.274A>C (p.Ser92Arg) | |
5 | g.149978253A>G | CA361705332 | SLC26A2 | n.833A>G c.601A>G (p.Ser201Gly) c.274A>G (p.Ser92Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978253A>T | CA361705333 | SLC26A2 | n.833A>T c.601A>T (p.Ser201Cys) c.274A>T (p.Ser92Cys) | |
5 | g.149978254G>A | CA361705336 | SLC26A2 | n.834G>A c.602G>A (p.Ser201Asn) c.275G>A (p.Ser92Asn) | |
5 | g.149978254G>C | CA361705334 | SLC26A2 | n.834G>C c.602G>C (p.Ser201Thr) c.275G>C (p.Ser92Thr) | |
5 | g.149978254G>T | CA361705335 | SLC26A2 | n.834G>T c.602G>T (p.Ser201Ile) c.275G>T (p.Ser92Ile) | |
5 | g.149978255C>A | CA361705337 | SLC26A2 | n.835C>A c.603C>A (p.Ser201Arg) c.276C>A (p.Ser92Arg) | |
5 | g.149978255C>G | CA361705338 | SLC26A2 | n.835C>G c.603C>G (p.Ser201Arg) c.276C>G (p.Ser92Arg) | |
5 | g.149978255C>T | CA447402153 | SLC26A2 | n.835C>T c.603C>T (p.Ser201=) c.276C>T (p.Ser92=) | |
5 | g.149978256A>C | CA361705339 | SLC26A2 | n.836A>C c.604A>C (p.Thr202Pro) c.277A>C (p.Thr93Pro) | |
5 | g.149978256A>G | CA361705340 | SLC26A2 | n.836A>G c.604A>G (p.Thr202Ala) c.277A>G (p.Thr93Ala) | |
5 | g.149978256A>T | CA361705341 | SLC26A2 | n.836A>T c.604A>T (p.Thr202Ser) c.277A>T (p.Thr93Ser) | |
5 | g.149978257C>A | CA361705342 | SLC26A2 | n.837C>A c.605C>A (p.Thr202Lys) c.278C>A (p.Thr93Lys) | |
5 | g.149978257C>G | CA361705343 | SLC26A2 | n.837C>G c.605C>G (p.Thr202Arg) c.278C>G (p.Thr93Arg) | |
5 | g.149978257C>T | CA361705344 | SLC26A2 | n.837C>T c.605C>T (p.Thr202Ile) c.278C>T (p.Thr93Ile) | dbSNP |
5 | g.149978258A= | CA1590737476 | SLC26A2 | n.838A= c.606A= (p.Thr202=) c.279A= (p.Thr93=) | |
5 | g.149978258A>C | CA447402158 | SLC26A2 | n.838A>C c.606A>C (p.Thr202=) c.279A>C (p.Thr93=) | |
5 | g.149978258A>G | CA447402160 | SLC26A2 | n.838A>G c.606A>G (p.Thr202=) c.279A>G (p.Thr93=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978258A>T | CA447402162 | SLC26A2 | n.838A>T c.606A>T (p.Thr202=) c.279A>T (p.Thr93=) | |
5 | g.149978259T>A | CA361705345 | SLC26A2 | n.839T>A c.607T>A (p.Leu203Ile) c.280T>A (p.Leu94Ile) | |
5 | g.149978259T>C | CA447402163 | SLC26A2 | n.839T>C c.607T>C (p.Leu203=) c.280T>C (p.Leu94=) | |
5 | g.149978259T>G | CA361705346 | SLC26A2 | n.839T>G c.607T>G (p.Leu203Val) c.280T>G (p.Leu94Val) | |
5 | g.149978260T>A | CA361705348 | SLC26A2 | n.840T>A c.608T>A (p.Leu203Ter) c.281T>A (p.Leu94Ter) | |
5 | g.149978260T>C | CA361705349 | SLC26A2 | n.840T>C c.608T>C (p.Leu203Ser) c.281T>C (p.Leu94Ser) | gnomAD v4 |
5 | g.149978260T>G | CA361705347 | SLC26A2 | n.840T>G c.608T>G (p.Leu203Ter) c.281T>G (p.Leu94Ter) | |
5 | g.149978261A>C | CA361705350 | SLC26A2 | n.841A>C c.609A>C (p.Leu203Phe) c.282A>C (p.Leu94Phe) | |
5 | g.149978261A>G | CA447402167 | SLC26A2 | n.841A>G c.609A>G (p.Leu203=) c.282A>G (p.Leu94=) | |
5 | g.149978261A>T | CA361705351 | SLC26A2 | n.841A>T c.609A>T (p.Leu203Phe) c.282A>T (p.Leu94Phe) | |
5 | g.149978262T>A | CA361705352 | SLC26A2 | n.842T>A c.610T>A (p.Leu204Ile) c.283T>A (p.Leu95Ile) | |
5 | g.149978262T>C | CA447402168 | SLC26A2 | n.842T>C c.610T>C (p.Leu204=) c.283T>C (p.Leu95=) | |
5 | g.149978262T>G | CA361705353 | SLC26A2 | n.842T>G c.610T>G (p.Leu204Val) c.283T>G (p.Leu95Val) | ClinVar |
5 | g.149978263T>A | CA361705354 | SLC26A2 | n.843T>A c.611T>A (p.Leu204Ter) c.284T>A (p.Leu95Ter) | |
5 | g.149978263T>C | CA361705355 | SLC26A2 | n.843T>C c.611T>C (p.Leu204Ser) c.284T>C (p.Leu95Ser) | |
5 | g.149978263T>G | CA361705356 | SLC26A2 | n.843T>G c.611T>G (p.Leu204Ter) c.284T>G (p.Leu95Ter) | ClinVar dbSNP |
5 | g.149978263T= | CA1590737477 | SLC26A2 | n.843T= c.611T= (p.Leu204=) c.284T= (p.Leu95=) | |
5 | g.149978264A>C | CA361705357 | SLC26A2 | n.844A>C c.612A>C (p.Leu204Phe) c.285A>C (p.Leu95Phe) | |
5 | g.149978264A>G | CA447402170 | SLC26A2 | n.844A>G c.612A>G (p.Leu204=) c.285A>G (p.Leu95=) | |
5 | g.149978264A>T | CA361705358 | SLC26A2 | n.844A>T c.612A>T (p.Leu204Phe) c.285A>T (p.Leu95Phe) | |
5 | g.149978266del | CA2675943469 | SLC26A2 | n.846del c.614del (p.Asn205IlefsTer21) c.287del (p.Asn96IlefsTer21) | gnomAD v4 |
5 | g.149978265_149978269del | CA2675943470 | SLC26A2 | n.845_849del c.613_617del (p.Asn205TyrfsTer7) c.286_290del (p.Asn96TyrfsTer7) | ClinVar gnomAD v4 |
5 | g.149978265A>C | CA361705359 | SLC26A2 | n.845A>C c.613A>C (p.Asn205His) c.286A>C (p.Asn96His) | |
5 | g.149978265A>G | CA361705360 | SLC26A2 | n.845A>G c.613A>G (p.Asn205Asp) c.286A>G (p.Asn96Asp) | |
5 | g.149978265A>T | CA361705361 | SLC26A2 | n.845A>T c.613A>T (p.Asn205Tyr) c.286A>T (p.Asn96Tyr) | |
5 | g.149978266A>C | CA361705364 | SLC26A2 | n.846A>C c.614A>C (p.Asn205Thr) c.287A>C (p.Asn96Thr) | |
5 | g.149978266A>G | CA361705362 | SLC26A2 | n.846A>G c.614A>G (p.Asn205Ser) c.287A>G (p.Asn96Ser) | |
5 | g.149978266A>T | CA361705363 | SLC26A2 | n.846A>T c.614A>T (p.Asn205Ile) c.287A>T (p.Asn96Ile) | |
5 | g.149978267T>A | CA361705365 | SLC26A2 | n.847T>A c.615T>A (p.Asn205Lys) c.288T>A (p.Asn96Lys) | |
5 | g.149978267T>C | CA447402176 | SLC26A2 | n.847T>C c.615T>C (p.Asn205=) c.288T>C (p.Asn96=) | |
5 | g.149978267T>G | CA361705366 | SLC26A2 | n.847T>G c.615T>G (p.Asn205Lys) c.288T>G (p.Asn96Lys) | |
5 | g.149978268C>A | CA361705367 | SLC26A2 | n.848C>A c.616C>A (p.His206Asn) c.289C>A (p.His97Asn) | |
5 | g.149978268C>G | CA361705368 | SLC26A2 | n.848C>G c.616C>G (p.His206Asp) c.289C>G (p.His97Asp) | |
5 | g.149978268C>T | CA361705369 | SLC26A2 | n.848C>T c.616C>T (p.His206Tyr) c.289C>T (p.His97Tyr) | |
5 | g.149978269A= | CA1590737478 | SLC26A2 | n.849A= c.617A= (p.His206=) c.290A= (p.His97=) | |
5 | g.149978269A>C | CA361705370 | SLC26A2 | n.849A>C c.617A>C (p.His206Pro) c.290A>C (p.His97Pro) | |
5 | g.149978269A>G | CA3505282 | SLC26A2 | n.849A>G c.617A>G (p.His206Arg) c.290A>G (p.His97Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978269A>T | CA361705371 | SLC26A2 | n.849A>T c.617A>T (p.His206Leu) c.290A>T (p.His97Leu) | gnomAD v4 |
5 | g.149978270T>A | CA361705372 | SLC26A2 | n.850T>A c.618T>A (p.His206Gln) c.291T>A (p.His97Gln) | |
5 | g.149978270T>C | CA447402182 | SLC26A2 | n.850T>C c.618T>C (p.His206=) c.291T>C (p.His97=) | |
5 | g.149978270T>G | CA3505283 | SLC26A2 | n.850T>G c.618T>G (p.His206Gln) c.291T>G (p.His97Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978270T= | CA1590737479 | SLC26A2 | n.850T= c.618T= (p.His206=) c.291T= (p.His97=) | |
5 | g.149978271A>C | CA361705373 | SLC26A2 | n.851A>C c.619A>C (p.Thr207Pro) c.292A>C (p.Thr98Pro) | |
5 | g.149978271A>G | CA361705374 | SLC26A2 | n.851A>G c.619A>G (p.Thr207Ala) c.292A>G (p.Thr98Ala) | |
5 | g.149978271A>T | CA361705375 | SLC26A2 | n.851A>T c.619A>T (p.Thr207Ser) c.292A>T (p.Thr98Ser) | |
5 | g.149978272C>A | CA361705378 | SLC26A2 | n.852C>A c.620C>A (p.Thr207Lys) c.293C>A (p.Thr98Lys) | |
5 | g.149978272C>G | CA361705377 | SLC26A2 | n.852C>G c.620C>G (p.Thr207Arg) c.293C>G (p.Thr98Arg) | |
5 | g.149978272C>T | CA361705376 | SLC26A2 | n.852C>T c.620C>T (p.Thr207Ile) c.293C>T (p.Thr98Ile) | |
5 | g.149978273A>C | CA447402189 | SLC26A2 | n.853A>C c.621A>C (p.Thr207=) c.294A>C (p.Thr98=) | |
5 | g.149978273A>G | CA447402192 | SLC26A2 | n.853A>G c.621A>G (p.Thr207=) c.294A>G (p.Thr98=) | |
5 | g.149978273A>T | CA447402194 | SLC26A2 | n.853A>T c.621A>T (p.Thr207=) c.294A>T (p.Thr98=) | |
5 | g.149978274T>A | CA361705380 | SLC26A2 | n.854T>A c.622T>A (p.Ser208Thr) c.295T>A (p.Ser99Thr) | |
5 | g.149978274T>C | CA361705379 | SLC26A2 | n.854T>C c.622T>C (p.Ser208Pro) c.295T>C (p.Ser99Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978274T>G | CA361705381 | SLC26A2 | n.854T>G c.622T>G (p.Ser208Ala) c.295T>G (p.Ser99Ala) | |
5 | g.149978274T= | CA1590737480 | SLC26A2 | n.854T= c.622T= (p.Ser208=) c.295T= (p.Ser99=) | |
5 | g.149978275C>A | CA361705382 | SLC26A2 | n.855C>A c.623C>A (p.Ser208Ter) c.296C>A (p.Ser99Ter) | |
5 | g.149978275C>G | CA361705383 | SLC26A2 | n.855C>G c.623C>G (p.Ser208Ter) c.296C>G (p.Ser99Ter) | |
5 | g.149978275C>T | CA361705384 | SLC26A2 | n.855C>T c.623C>T (p.Ser208Leu) c.296C>T (p.Ser99Leu) | dbSNP gnomAD v4 COSMIC |
5 | g.149978276A>C | CA447402201 | SLC26A2 | n.856A>C c.624A>C (p.Ser208=) c.297A>C (p.Ser99=) | |
5 | g.149978276A>G | CA447402206 | SLC26A2 | n.856A>G c.624A>G (p.Ser208=) c.297A>G (p.Ser99=) | |
5 | g.149978276A>T | CA447402207 | SLC26A2 | n.856A>T c.624A>T (p.Ser208=) c.297A>T (p.Ser99=) | |
5 | g.149978277G>A | CA361705385 | SLC26A2 | n.857G>A c.625G>A (p.Asp209Asn) c.298G>A (p.Asp100Asn) | |
5 | g.149978277G>C | CA361705386 | SLC26A2 | n.857G>C c.625G>C (p.Asp209His) c.298G>C (p.Asp100His) | |
5 | g.149978277G>T | CA361705387 | SLC26A2 | n.857G>T c.625G>T (p.Asp209Tyr) c.298G>T (p.Asp100Tyr) | |
5 | g.149978278A>C | CA361705388 | SLC26A2 | n.858A>C c.626A>C (p.Asp209Ala) c.299A>C (p.Asp100Ala) | |
5 | g.149978278A>G | CA361705389 | SLC26A2 | n.858A>G c.626A>G (p.Asp209Gly) c.299A>G (p.Asp100Gly) | gnomAD v4 |
5 | g.149978278A>T | CA361705390 | SLC26A2 | n.858A>T c.626A>T (p.Asp209Val) c.299A>T (p.Asp100Val) | |
5 | g.149978279C>A | CA3505284 | SLC26A2 | n.859C>A c.627C>A (p.Asp209Glu) c.300C>A (p.Asp100Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978279C= | CA1590737481 | SLC26A2 | n.859C= c.627C= (p.Asp209=) c.300C= (p.Asp100=) | |
5 | g.149978279C>G | CA361705391 | SLC26A2 | n.859C>G c.627C>G (p.Asp209Glu) c.300C>G (p.Asp100Glu) | |
5 | g.149978279C>T | CA447402213 | SLC26A2 | n.859C>T c.627C>T (p.Asp209=) c.300C>T (p.Asp100=) | ClinVar gnomAD v4 |
5 | g.149978280A= | CA1590737482 | SLC26A2 | n.860A= c.628A= (p.Arg210=) c.301A= (p.Arg101=) | |
5 | g.149978280A>C | CA447402214 | SLC26A2 | n.860A>C c.628A>C (p.Arg210=) c.301A>C (p.Arg101=) | |
5 | g.149978280A>G | CA361705392 | SLC26A2 | n.860A>G c.628A>G (p.Arg210Gly) c.301A>G (p.Arg101Gly) | |
5 | g.149978280A>T | CA361705393 | SLC26A2 | n.860A>T c.628A>T (p.Arg210Trp) c.301A>T (p.Arg101Trp) | |
5 | g.149978280_149978281insCTGTT | CA563955679 | SLC26A2 | n.860_861insCTGTT c.628_629insCTGTT (p.Arg210ThrfsTer18) c.301_302insCTGTT (p.Arg101ThrfsTer18) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978281G>A | CA361705394 | SLC26A2 | n.861G>A c.629G>A (p.Arg210Lys) c.302G>A (p.Arg101Lys) | gnomAD v4 |
5 | g.149978281G>C | CA361705396 | SLC26A2 | n.861G>C c.629G>C (p.Arg210Thr) c.302G>C (p.Arg101Thr) | |
5 | g.149978281G>T | CA361705395 | SLC26A2 | n.861G>T c.629G>T (p.Arg210Met) c.302G>T (p.Arg101Met) | |
5 | g.149978282G>A | CA129082727 | SLC26A2 | n.862G>A c.630G>A (p.Arg210=) c.303G>A (p.Arg101=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978282G>C | CA361705397 | SLC26A2 | n.862G>C c.630G>C (p.Arg210Ser) c.303G>C (p.Arg101Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978282G= | CA1590737483 | SLC26A2 | n.862G= c.630G= (p.Arg210=) c.303G= (p.Arg101=) | |
5 | g.149978282G>T | CA361705398 | SLC26A2 | n.862G>T c.630G>T (p.Arg210Ser) c.303G>T (p.Arg101Ser) | |
5 | g.149978283A= | CA1590737484 | SLC26A2 | n.863A= c.631A= (p.Ile211=) c.304A= (p.Ile102=) | |
5 | g.149978283A>C | CA361705399 | SLC26A2 | n.863A>C c.631A>C (p.Ile211Leu) c.304A>C (p.Ile102Leu) | |
5 | g.149978283A>G | CA3505285 | SLC26A2 | n.863A>G c.631A>G (p.Ile211Val) c.304A>G (p.Ile102Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978283A>T | CA129082731 | SLC26A2 | n.863A>T c.631A>T (p.Ile211Leu) c.304A>T (p.Ile102Leu) | dbSNP gnomAD v4 |
5 | g.149978284T>A | CA361705400 | SLC26A2 | n.864T>A c.632T>A (p.Ile211Lys) c.305T>A (p.Ile102Lys) | |
5 | g.149978284T>C | CA361705401 | SLC26A2 | n.864T>C c.632T>C (p.Ile211Thr) c.305T>C (p.Ile102Thr) | |
5 | g.149978284T>G | CA361705402 | SLC26A2 | n.864T>G c.632T>G (p.Ile211Arg) c.305T>G (p.Ile102Arg) | |
5 | g.149978285A= | CA1590737485 | SLC26A2 | n.865A= c.633A= (p.Ile211=) c.306A= (p.Ile102=) | |
5 | g.149978285A>C | CA447402228 | SLC26A2 | n.865A>C c.633A>C (p.Ile211=) c.306A>C (p.Ile102=) | |
5 | g.149978285A>G | CA361705403 | SLC26A2 | n.865A>G c.633A>G (p.Ile211Met) c.306A>G (p.Ile102Met) | |
5 | g.149978285A>T | CA447402230 | SLC26A2 | n.865A>T c.633A>T (p.Ile211=) c.306A>T (p.Ile102=) | |
5 | g.149978285_149978286insGCAAC | CA563955680 | SLC26A2 | n.865_866insGCAAC c.633_634insGCAAC (p.Cys212AlafsTer16) c.306_307insGCAAC (p.Cys103AlafsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978286T>A | CA361705405 | SLC26A2 | n.866T>A c.634T>A (p.Cys212Ser) c.307T>A (p.Cys103Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978286T>C | CA361705406 | SLC26A2 | n.866T>C c.634T>C (p.Cys212Arg) c.307T>C (p.Cys103Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978286T>G | CA361705404 | SLC26A2 | n.866T>G c.634T>G (p.Cys212Gly) c.307T>G (p.Cys103Gly) | |
5 | g.149978286T= | CA1590737486 | SLC26A2 | n.866T= c.634T= (p.Cys212=) c.307T= (p.Cys103=) | |
5 | g.149978287G>A | CA361705407 | SLC26A2 | n.867G>A c.635G>A (p.Cys212Tyr) c.308G>A (p.Cys103Tyr) | |
5 | g.149978287G>C | CA361705408 | SLC26A2 | n.867G>C c.635G>C (p.Cys212Ser) c.308G>C (p.Cys103Ser) | |
5 | g.149978287G= | CA1590737487 | SLC26A2 | n.867G= c.635G= (p.Cys212=) c.308G= (p.Cys103=) | |
5 | g.149978287G>T | CA129082733 | SLC26A2 | n.867G>T c.635G>T (p.Cys212Phe) c.308G>T (p.Cys103Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978288T>A | CA361705409 | SLC26A2 | n.868T>A c.636T>A (p.Cys212Ter) c.309T>A (p.Cys103Ter) | |
5 | g.149978288T>C | CA447402532 | SLC26A2 | n.868T>C c.636T>C (p.Cys212=) c.309T>C (p.Cys103=) | ClinVar dbSNP |
5 | g.149978288T>G | CA361705410 | SLC26A2 | n.868T>G c.636T>G (p.Cys212Trp) c.309T>G (p.Cys103Trp) | |
5 | g.149978289G>A | CA361705411 | SLC26A2 | n.869G>A c.637G>A (p.Asp213Asn) c.310G>A (p.Asp104Asn) | |
5 | g.149978289G>C | CA361705412 | SLC26A2 | n.869G>C c.637G>C (p.Asp213His) c.310G>C (p.Asp104His) | |
5 | g.149978289G>T | CA361705413 | SLC26A2 | n.869G>T c.637G>T (p.Asp213Tyr) c.310G>T (p.Asp104Tyr) | |
5 | g.149978290del | CA2831039670 | SLC26A2 | n.870del c.638del (p.Asp213AlafsTer13) c.311del (p.Asp104AlafsTer13) | |
5 | g.149978290A>C | CA361705414 | SLC26A2 | n.870A>C c.638A>C (p.Asp213Ala) c.311A>C (p.Asp104Ala) | |
5 | g.149978290A>G | CA361705415 | SLC26A2 | n.870A>G c.638A>G (p.Asp213Gly) c.311A>G (p.Asp104Gly) | |
5 | g.149978290A>T | CA361705416 | SLC26A2 | n.870A>T c.638A>T (p.Asp213Val) c.311A>T (p.Asp104Val) | |
5 | g.149978291_149978293del | CA913108445 | SLC26A2 | n.871_873del c.639_641del (p.Asp213_Lys214delinsGlu) c.312_314del (p.Asp104_Lys105delinsGlu) | |
5 | g.149978291C>A | CA361705417 | SLC26A2 | n.871C>A c.639C>A (p.Asp213Glu) c.312C>A (p.Asp104Glu) | |
5 | g.149978291C>G | CA361705418 | SLC26A2 | n.871C>G c.639C>G (p.Asp213Glu) c.312C>G (p.Asp104Glu) | |
5 | g.149978291C>T | CA447402537 | SLC26A2 | n.871C>T c.639C>T (p.Asp213=) c.312C>T (p.Asp104=) | |
5 | g.149978291_149978293delinsCAA | CA1590737488 | SLC26A2 | n.871_873delinsCAA c.639_641delinsCAA (p.Asp213=) c.312_314delinsCAA (p.Asp104=) | |
5 | g.149978292A= | CA1590737489 | SLC26A2 | n.872A= c.640A= (p.Lys214=) c.313A= (p.Lys105=) | |
5 | g.149978292A>C | CA361705420 | SLC26A2 | n.872A>C c.640A>C (p.Lys214Gln) c.313A>C (p.Lys105Gln) | |
5 | g.149978292A>G | CA3505286 | SLC26A2 | n.872A>G c.640A>G (p.Lys214Glu) c.313A>G (p.Lys105Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978292A>T | CA361705419 | SLC26A2 | n.872A>T c.640A>T (p.Lys214Ter) c.313A>T (p.Lys105Ter) | |
5 | g.149978294_149978295del | CA658822215 | SLC26A2 | n.874_875del c.642_643del (p.Ser215LeufsTer?) c.315_316del (p.Ser106LeufsTer?) | ClinVar dbSNP |
5 | g.149978293A= | CA1590737490 | SLC26A2 | n.873A= c.641A= (p.Lys214=) c.314A= (p.Lys105=) | |
5 | g.149978293A>C | CA361705421 | SLC26A2 | n.873A>C c.641A>C (p.Lys214Thr) c.314A>C (p.Lys105Thr) | |
5 | g.149978293A>G | CA361705422 | SLC26A2 | n.873A>G c.641A>G (p.Lys214Arg) c.314A>G (p.Lys105Arg) | dbSNP |
5 | g.149978293A>T | CA361705423 | SLC26A2 | n.873A>T c.641A>T (p.Lys214Ile) c.314A>T (p.Lys105Ile) | |
5 | g.149978294A>C | CA361705424 | SLC26A2 | n.874A>C c.642A>C (p.Lys214Asn) c.315A>C (p.Lys105Asn) | |
5 | g.149978294A>G | CA447402544 | SLC26A2 | n.874A>G c.642A>G (p.Lys214=) c.315A>G (p.Lys105=) | |
5 | g.149978294A>T | CA361705425 | SLC26A2 | n.874A>T c.642A>T (p.Lys214Asn) c.315A>T (p.Lys105Asn) | |
5 | g.149978295A>C | CA361705426 | SLC26A2 | n.875A>C c.643A>C (p.Ser215Arg) c.316A>C (p.Ser106Arg) | |
5 | g.149978295A>G | CA361705427 | SLC26A2 | n.875A>G c.643A>G (p.Ser215Gly) c.316A>G (p.Ser106Gly) | |
5 | g.149978295A>T | CA361705428 | SLC26A2 | n.875A>T c.643A>T (p.Ser215Cys) c.316A>T (p.Ser106Cys) | |
5 | g.149978296G>A | CA361705429 | SLC26A2 | n.876G>A c.644G>A (p.Ser215Asn) c.317G>A (p.Ser106Asn) | |
5 | g.149978296G>C | CA361705430 | SLC26A2 | n.876G>C c.644G>C (p.Ser215Thr) c.317G>C (p.Ser106Thr) | |
5 | g.149978296G>T | CA361705431 | SLC26A2 | n.876G>T c.644G>T (p.Ser215Ile) c.317G>T (p.Ser106Ile) | |
5 | g.149978297T>A | CA361705432 | SLC26A2 | n.877T>A c.645T>A (p.Ser215Arg) c.318T>A (p.Ser106Arg) | |
5 | g.149978297T>C | CA447402548 | SLC26A2 | n.877T>C c.645T>C (p.Ser215=) c.318T>C (p.Ser106=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978297T>G | CA361705433 | SLC26A2 | n.877T>G c.645T>G (p.Ser215Arg) c.318T>G (p.Ser106Arg) | |
5 | g.149978297T= | CA1590737491 | SLC26A2 | n.877T= c.645T= (p.Ser215=) c.318T= (p.Ser106=) | |
5 | g.149978298T>A | CA361705435 | SLC26A2 | n.878T>A c.646T>A (p.Cys216Ser) c.319T>A (p.Cys107Ser) | |
5 | g.149978298T>C | CA361705436 | SLC26A2 | n.878T>C c.646T>C (p.Cys216Arg) c.319T>C (p.Cys107Arg) | |
5 | g.149978298T>G | CA361705434 | SLC26A2 | n.878T>G c.646T>G (p.Cys216Gly) c.319T>G (p.Cys107Gly) | |
5 | g.149978299G>A | CA361705437 | SLC26A2 | n.879G>A c.647G>A (p.Cys216Tyr) c.320G>A (p.Cys107Tyr) | gnomAD v4 |
5 | g.149978299G>C | CA361705439 | SLC26A2 | n.879G>C c.647G>C (p.Cys216Ser) c.320G>C (p.Cys107Ser) | |
5 | g.149978299G>T | CA361705438 | SLC26A2 | n.879G>T c.647G>T (p.Cys216Phe) c.320G>T (p.Cys107Phe) | |
5 | g.149978300C>A | CA361705440 | SLC26A2 | n.880C>A c.648C>A (p.Cys216Ter) c.321C>A (p.Cys107Ter) | |
5 | g.149978300C>G | CA361705441 | SLC26A2 | n.880C>G c.648C>G (p.Cys216Trp) c.321C>G (p.Cys107Trp) | |
5 | g.149978300C>T | CA447402556 | SLC26A2 | n.880C>T c.648C>T (p.Cys216=) c.321C>T (p.Cys107=) | |
5 | g.149978301T>A | CA361705442 | SLC26A2 | n.881T>A c.649T>A (p.Tyr217Asn) c.322T>A (p.Tyr108Asn) | gnomAD v4 |
5 | g.149978301T>C | CA361705444 | SLC26A2 | n.881T>C c.649T>C (p.Tyr217His) c.322T>C (p.Tyr108His) | |
5 | g.149978301T>G | CA361705443 | SLC26A2 | n.881T>G c.649T>G (p.Tyr217Asp) c.322T>G (p.Tyr108Asp) | |
5 | g.149978302A= | CA1590737492 | SLC26A2 | n.882A= c.650A= (p.Tyr217=) c.323A= (p.Tyr108=) | |
5 | g.149978302A>C | CA361705445 | SLC26A2 | n.882A>C c.650A>C (p.Tyr217Ser) c.323A>C (p.Tyr108Ser) | |
5 | g.149978302A>G | CA3505287 | SLC26A2 | n.882A>G c.650A>G (p.Tyr217Cys) c.323A>G (p.Tyr108Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978302A>T | CA361705446 | SLC26A2 | n.882A>T c.650A>T (p.Tyr217Phe) c.323A>T (p.Tyr108Phe) | gnomAD v4 |
5 | g.149978303T>A | CA361705447 | SLC26A2 | n.883T>A c.651T>A (p.Tyr217Ter) c.324T>A (p.Tyr108Ter) | |
5 | g.149978303T>C | CA447402562 | SLC26A2 | n.883T>C c.651T>C (p.Tyr217=) c.324T>C (p.Tyr108=) | ClinVar gnomAD v4 |
5 | g.149978303T>G | CA361705448 | SLC26A2 | n.883T>G c.651T>G (p.Tyr217Ter) c.324T>G (p.Tyr108Ter) | |
5 | g.149978304G>A | CA361705449 | SLC26A2 | n.884G>A c.652G>A (p.Ala218Thr) c.325G>A (p.Ala109Thr) | gnomAD v4 |
5 | g.149978304G>C | CA361705450 | SLC26A2 | n.884G>C c.652G>C (p.Ala218Pro) c.325G>C (p.Ala109Pro) | |
5 | g.149978304G>T | CA361705451 | SLC26A2 | n.884G>T c.652G>T (p.Ala218Ser) c.325G>T (p.Ala109Ser) | |
5 | g.149978305C>A | CA361705452 | SLC26A2 | n.885C>A c.653C>A (p.Ala218Glu) c.326C>A (p.Ala109Glu) | |
5 | g.149978305C>G | CA361705453 | SLC26A2 | n.885C>G c.653C>G (p.Ala218Gly) c.326C>G (p.Ala109Gly) | gnomAD v4 |
5 | g.149978305C>T | CA361705454 | SLC26A2 | n.885C>T c.653C>T (p.Ala218Val) c.326C>T (p.Ala109Val) | |
5 | g.149978306A>C | CA447402567 | SLC26A2 | n.886A>C c.654A>C (p.Ala218=) c.327A>C (p.Ala109=) | |
5 | g.149978306A>G | CA447402569 | SLC26A2 | n.886A>G c.654A>G (p.Ala218=) c.327A>G (p.Ala109=) | |
5 | g.149978306A>T | CA447402570 | SLC26A2 | n.886A>T c.654A>T (p.Ala218=) c.327A>T (p.Ala109=) | |
5 | g.149978307A= | CA1590737493 | SLC26A2 | n.887A= c.655A= (p.Ile219=) c.328A= (p.Ile110=) | |
5 | g.149978307A>C | CA361705456 | SLC26A2 | n.887A>C c.655A>C (p.Ile219Leu) c.328A>C (p.Ile110Leu) | |
5 | g.149978307A>G | CA3505288 | SLC26A2 | n.887A>G c.655A>G (p.Ile219Val) c.328A>G (p.Ile110Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978307A>T | CA361705455 | SLC26A2 | n.887A>T c.655A>T (p.Ile219Phe) c.328A>T (p.Ile110Phe) | |
5 | g.149978308T>A | CA361705457 | SLC26A2 | n.888T>A c.656T>A (p.Ile219Asn) c.329T>A (p.Ile110Asn) | |
5 | g.149978308T>C | CA361705458 | SLC26A2 | n.888T>C c.656T>C (p.Ile219Thr) c.329T>C (p.Ile110Thr) | |
5 | g.149978308T>G | CA361705459 | SLC26A2 | n.888T>G c.656T>G (p.Ile219Ser) c.329T>G (p.Ile110Ser) | |
5 | g.149978309T>A | CA447402573 | SLC26A2 | n.889T>A c.657T>A (p.Ile219=) c.330T>A (p.Ile110=) | |
5 | g.149978309T>C | CA447402575 | SLC26A2 | n.889T>C c.657T>C (p.Ile219=) c.330T>C (p.Ile110=) | COSMIC |
5 | g.149978309T>G | CA361705460 | SLC26A2 | n.889T>G c.657T>G (p.Ile219Met) c.330T>G (p.Ile110Met) | |
5 | g.149978309_149978312dup | CA2675943471 | SLC26A2 | n.889_892dup c.657_660dup (p.Val221TyrfsTer?) c.330_333dup (p.Val112TyrfsTer27) | gnomAD v4 |
5 | g.149978310A= | CA1590737494 | SLC26A2 | n.890A= c.658A= (p.Met220=) c.331A= (p.Met111=) | |
5 | g.149978310A>C | CA361705461 | SLC26A2 | n.890A>C c.658A>C (p.Met220Leu) c.331A>C (p.Met111Leu) | |
5 | g.149978310A>G | CA129082739 | SLC26A2 | n.890A>G c.658A>G (p.Met220Val) c.331A>G (p.Met111Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978310A>T | CA361705462 | SLC26A2 | n.890A>T c.658A>T (p.Met220Leu) c.331A>T (p.Met111Leu) | |
5 | g.149978311T>A | CA361705463 | SLC26A2 | n.891T>A c.659T>A (p.Met220Lys) c.332T>A (p.Met111Lys) | |
5 | g.149978311T>C | CA361705464 | SLC26A2 | n.891T>C c.659T>C (p.Met220Thr) c.332T>C (p.Met111Thr) | |
5 | g.149978311T>G | CA361705465 | SLC26A2 | n.891T>G c.659T>G (p.Met220Arg) c.332T>G (p.Met111Arg) | |
5 | g.149978312G>A | CA361705468 | SLC26A2 | n.892G>A c.660G>A (p.Met220Ile) c.333G>A (p.Met111Ile) | |
5 | g.149978312G>C | CA361705467 | SLC26A2 | n.892G>C c.660G>C (p.Met220Ile) c.333G>C (p.Met111Ile) | |
5 | g.149978312G>T | CA361705466 | SLC26A2 | n.892G>T c.660G>T (p.Met220Ile) c.333G>T (p.Met111Ile) | |
5 | g.149978313G>A | CA129082741 | SLC26A2 | n.893G>A c.661G>A (p.Val221Ile) c.334G>A (p.Val112Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978313G>C | CA361705469 | SLC26A2 | n.893G>C c.661G>C (p.Val221Leu) c.334G>C (p.Val112Leu) | |
5 | g.149978313G= | CA1590737495 | SLC26A2 | n.893G= c.661G= (p.Val221=) c.334G= (p.Val112=) | |
5 | g.149978313G>T | CA361705470 | SLC26A2 | n.893G>T c.661G>T (p.Val221Phe) c.334G>T (p.Val112Phe) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978314T>A | CA361705471 | SLC26A2 | n.894T>A c.662T>A (p.Val221Asp) c.335T>A (p.Val112Asp) | |
5 | g.149978314T>C | CA361705472 | SLC26A2 | n.894T>C c.662T>C (p.Val221Ala) c.335T>C (p.Val112Ala) | |
5 | g.149978314T>G | CA361705473 | SLC26A2 | n.894T>G c.662T>G (p.Val221Gly) c.335T>G (p.Val112Gly) | |
5 | g.149978315T>A | CA447402582 | SLC26A2 | n.895T>A c.663T>A (p.Val221=) c.336T>A (p.Val112=) | |
5 | g.149978315T>C | CA447402584 | SLC26A2 | n.895T>C c.663T>C (p.Val221=) c.336T>C (p.Val112=) | |
5 | g.149978315T>G | CA447402585 | SLC26A2 | n.895T>G c.663T>G (p.Val221=) c.336T>G (p.Val112=) | |
5 | g.149978316G>A | CA361705474 | SLC26A2 | n.896G>A c.664G>A (p.Gly222Ser) c.337G>A (p.Gly113Ser) | |
5 | g.149978316G>C | CA361705475 | SLC26A2 | n.896G>C c.664G>C (p.Gly222Arg) c.337G>C (p.Gly113Arg) | |
5 | g.149978316G>T | CA361705476 | SLC26A2 | n.896G>T c.664G>T (p.Gly222Cys) c.337G>T (p.Gly113Cys) | |
5 | g.149978317G>A | CA361705477 | SLC26A2 | n.897G>A c.665G>A (p.Gly222Asp) c.338G>A (p.Gly113Asp) | |
5 | g.149978317G>C | CA361705478 | SLC26A2 | n.897G>C c.665G>C (p.Gly222Ala) c.338G>C (p.Gly113Ala) | |
5 | g.149978317G>T | CA361705479 | SLC26A2 | n.897G>T c.665G>T (p.Gly222Val) c.338G>T (p.Gly113Val) | |
5 | g.149978318C>A | CA447402588 | SLC26A2 | n.898C>A c.666C>A (p.Gly222=) c.339C>A (p.Gly113=) | |
5 | g.149978318C>G | CA447402589 | SLC26A2 | n.898C>G c.666C>G (p.Gly222=) c.339C>G (p.Gly113=) | |
5 | g.149978318C>T | CA447402590 | SLC26A2 | n.898C>T c.666C>T (p.Gly222=) c.339C>T (p.Gly113=) | |
5 | g.149978319A>C | CA361705482 | SLC26A2 | n.899A>C c.667A>C (p.Ser223Arg) c.340A>C (p.Ser114Arg) | COSMIC |
5 | g.149978319A>G | CA361705480 | SLC26A2 | n.899A>G c.667A>G (p.Ser223Gly) c.340A>G (p.Ser114Gly) | |
5 | g.149978319A>T | CA361705481 | SLC26A2 | n.899A>T c.667A>T (p.Ser223Cys) c.340A>T (p.Ser114Cys) | |
5 | g.149978320G>A | CA3505289 | SLC26A2 | n.900G>A c.668G>A (p.Ser223Asn) c.341G>A (p.Ser114Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.149978320G>C | CA361705483 | SLC26A2 | n.900G>C c.668G>C (p.Ser223Thr) c.341G>C (p.Ser114Thr) | |
5 | g.149978320G= | CA1590737496 | SLC26A2 | n.900G= c.668G= (p.Ser223=) c.341G= (p.Ser114=) | |
5 | g.149978320G>T | CA361705484 | SLC26A2 | n.900G>T c.668G>T (p.Ser223Ile) c.341G>T (p.Ser114Ile) | |
5 | g.149978321C>A | CA361705485 | SLC26A2 | n.901C>A c.669C>A (p.Ser223Arg) c.342C>A (p.Ser114Arg) | |
5 | g.149978321C= | CA1590737497 | SLC26A2 | n.901C= c.669C= (p.Ser223=) c.342C= (p.Ser114=) | |
5 | g.149978321C>G | CA361705486 | SLC26A2 | n.901C>G c.669C>G (p.Ser223Arg) c.342C>G (p.Ser114Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978321C>T | CA447402595 | SLC26A2 | n.901C>T c.669C>T (p.Ser223=) c.342C>T (p.Ser114=) | |
5 | g.149978322A>C | CA361705487 | SLC26A2 | n.902A>C c.670A>C (p.Thr224Pro) c.343A>C (p.Thr115Pro) | |
5 | g.149978322A>G | CA361705488 | SLC26A2 | n.902A>G c.670A>G (p.Thr224Ala) c.343A>G (p.Thr115Ala) | |
5 | g.149978322A>T | CA361705489 | SLC26A2 | n.902A>T c.670A>T (p.Thr224Ser) c.343A>T (p.Thr115Ser) | |
5 | g.149978323C>A | CA361705490 | SLC26A2 | n.903C>A c.671C>A (p.Thr224Asn) c.344C>A (p.Thr115Asn) | |
5 | g.149978323C>G | CA361705491 | SLC26A2 | n.903C>G c.671C>G (p.Thr224Ser) c.344C>G (p.Thr115Ser) | |
5 | g.149978323C>T | CA361705492 | SLC26A2 | n.903C>T c.671C>T (p.Thr224Ile) c.344C>T (p.Thr115Ile) | |
5 | g.149978324T>A | CA447402599 | SLC26A2 | n.904T>A c.672T>A (p.Thr224=) c.345T>A (p.Thr115=) | |
5 | g.149978324T>C | CA447402600 | SLC26A2 | n.904T>C c.672T>C (p.Thr224=) c.345T>C (p.Thr115=) | ClinVar dbSNP |
5 | g.149978324T>G | CA447402601 | SLC26A2 | n.904T>G c.672T>G (p.Thr224=) c.345T>G (p.Thr115=) | |
5 | g.149978324T= | CA1590737498 | SLC26A2 | n.904T= c.672T= (p.Thr224=) c.345T= (p.Thr115=) |