Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56870702C>A | CA395982255 | SLC12A3 | c.818C>A (p.Ala273Asp) c.815C>A (p.Ala272Asp) | |
16 | g.56870702C>G | CA395982256 | SLC12A3 | c.818C>G (p.Ala273Gly) c.815C>G (p.Ala272Gly) | |
16 | g.56870702C>T | CA395982257 | SLC12A3 | c.818C>T (p.Ala273Val) c.815C>T (p.Ala272Val) | |
16 | g.56870703C>A | CA495603217 | SLC12A3 | c.819C>A (p.Ala273=) c.816C>A (p.Ala272=) | gnomAD v4 |
16 | g.56870703C>G | CA495603218 | SLC12A3 | c.819C>G (p.Ala273=) c.816C>G (p.Ala272=) | |
16 | g.56870703C>T | CA495603219 | SLC12A3 | c.819C>T (p.Ala273=) c.816C>T (p.Ala272=) | |
16 | g.56870704A= | CA2224349566 | SLC12A3 | c.820A= (p.Ile274=) c.817A= (p.Ile273=) | |
16 | g.56870704A>C | CA8069219 | SLC12A3 | c.820A>C (p.Ile274Leu) c.817A>C (p.Ile273Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870704A>G | CA395982258 | SLC12A3 | c.820A>G (p.Ile274Val) c.817A>G (p.Ile273Val) | gnomAD v4 |
16 | g.56870704A>T | CA395982259 | SLC12A3 | c.820A>T (p.Ile274Phe) c.817A>T (p.Ile273Phe) | |
16 | g.56870705T>A | CA395982260 | SLC12A3 | c.821T>A (p.Ile274Asn) c.818T>A (p.Ile273Asn) | |
16 | g.56870705T>C | CA395982261 | SLC12A3 | c.821T>C (p.Ile274Thr) c.818T>C (p.Ile273Thr) | |
16 | g.56870705T>G | CA395982262 | SLC12A3 | c.821T>G (p.Ile274Ser) c.818T>G (p.Ile273Ser) | gnomAD v4 |
16 | g.56870707_56870708dup | CA2697555858 | SLC12A3 | c.823_824dup (p.Leu276ProfsTer27) c.820_821dup (p.Leu275ProfsTer27) | ClinVar |
16 | g.56870706C>A | CA495603220 | SLC12A3 | c.822C>A (p.Ile274=) c.819C>A (p.Ile273=) | ClinVar dbSNP |
16 | g.56870706C= | CA2224349567 | SLC12A3 | c.822C= (p.Ile274=) c.819C= (p.Ile273=) | |
16 | g.56870706C>G | CA395982263 | SLC12A3 | c.822C>G (p.Ile274Met) c.819C>G (p.Ile273Met) | gnomAD v4 |
16 | g.56870706C>T | CA495603221 | SLC12A3 | c.822C>T (p.Ile274=) c.819C>T (p.Ile273=) | |
16 | g.56870707T>A | CA395982266 | SLC12A3 | c.823T>A (p.Ser275Thr) c.820T>A (p.Ser274Thr) | gnomAD v4 |
16 | g.56870707T>C | CA395982264 | SLC12A3 | c.823T>C (p.Ser275Pro) c.820T>C (p.Ser274Pro) | COSMIC |
16 | g.56870707T>G | CA395982265 | SLC12A3 | c.823T>G (p.Ser275Ala) c.820T>G (p.Ser274Ala) | |
16 | g.56870707dup | CA977638335 | SLC12A3 | c.823dup (p.Ser275PhefsTer?) c.820dup (p.Ser274PhefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870708C>A | CA395982267 | SLC12A3 | c.824C>A (p.Ser275Tyr) c.821C>A (p.Ser274Tyr) | gnomAD v4 |
16 | g.56870708C>G | CA395982268 | SLC12A3 | c.824C>G (p.Ser275Cys) c.821C>G (p.Ser274Cys) | |
16 | g.56870708C>T | CA395982269 | SLC12A3 | c.824C>T (p.Ser275Phe) c.821C>T (p.Ser274Phe) | |
16 | g.56870709C>A | CA495603222 | SLC12A3 | c.825C>A (p.Ser275=) c.822C>A (p.Ser274=) | |
16 | g.56870709C= | CA2224349568 | SLC12A3 | c.825C= (p.Ser275=) c.822C= (p.Ser274=) | |
16 | g.56870709C>G | CA8069221 | SLC12A3 | c.825C>G (p.Ser275=) c.822C>G (p.Ser274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870709C>T | CA8069220 | SLC12A3 | c.825C>T (p.Ser275=) c.822C>T (p.Ser274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870710C>A | CA395982270 | SLC12A3 | c.826C>A (p.Leu276Met) c.823C>A (p.Leu275Met) | |
16 | g.56870710C>G | CA395982271 | SLC12A3 | c.826C>G (p.Leu276Val) c.823C>G (p.Leu275Val) | |
16 | g.56870710C>T | CA495603224 | SLC12A3 | c.826C>T (p.Leu276=) c.823C>T (p.Leu275=) | |
16 | g.56870711T>A | CA395982272 | SLC12A3 | c.827T>A (p.Leu276Gln) c.824T>A (p.Leu275Gln) | |
16 | g.56870711T>C | CA395982273 | SLC12A3 | c.827T>C (p.Leu276Pro) c.824T>C (p.Leu275Pro) | |
16 | g.56870711T>G | CA395982274 | SLC12A3 | c.827T>G (p.Leu276Arg) c.824T>G (p.Leu275Arg) | |
16 | g.56870712G>A | CA8069222 | SLC12A3 | c.828G>A (p.Leu276=) c.825G>A (p.Leu275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870712G>C | CA495603226 | SLC12A3 | c.828G>C (p.Leu276=) c.825G>C (p.Leu275=) | |
16 | g.56870712G= | CA2224349569 | SLC12A3 | c.828G= (p.Leu276=) c.825G= (p.Leu275=) | |
16 | g.56870712G>T | CA495603225 | SLC12A3 | c.828G>T (p.Leu276=) c.825G>T (p.Leu275=) | |
16 | g.56870713dup | CA2695223677 | SLC12A3 | c.829dup (p.Ala277GlyfsTer?) c.826dup (p.Ala276GlyfsTer?) | |
16 | g.56870713G>A | CA395982277 | SLC12A3 | c.829G>A (p.Ala277Thr) c.826G>A (p.Ala276Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870713G>C | CA395982276 | SLC12A3 | c.829G>C (p.Ala277Pro) c.826G>C (p.Ala276Pro) | |
16 | g.56870713G= | CA2224349570 | SLC12A3 | c.829G= (p.Ala277=) c.826G= (p.Ala276=) | |
16 | g.56870713G>T | CA395982275 | SLC12A3 | c.829G>T (p.Ala277Ser) c.826G>T (p.Ala276Ser) | |
16 | g.56870714C>A | CA395982278 | SLC12A3 | c.830C>A (p.Ala277Asp) c.827C>A (p.Ala276Asp) | gnomAD v4 |
16 | g.56870714C>G | CA395982279 | SLC12A3 | c.830C>G (p.Ala277Gly) c.827C>G (p.Ala276Gly) | |
16 | g.56870714C>T | CA395982280 | SLC12A3 | c.830C>T (p.Ala277Val) c.827C>T (p.Ala276Val) | gnomAD v4 COSMIC |
16 | g.56870715T>A | CA495603227 | SLC12A3 | c.831T>A (p.Ala277=) c.828T>A (p.Ala276=) | |
16 | g.56870715T>C | CA495603229 | SLC12A3 | c.831T>C (p.Ala277=) c.828T>C (p.Ala276=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870715T>G | CA495603228 | SLC12A3 | c.831T>G (p.Ala277=) c.828T>G (p.Ala276=) | |
16 | g.56870715T= | CA2224349571 | SLC12A3 | c.831T= (p.Ala277=) c.828T= (p.Ala276=) | |
16 | g.56870716G>A | CA395982281 | SLC12A3 | c.832G>A (p.Gly278Ser) c.829G>A (p.Gly277Ser) | |
16 | g.56870716G>C | CA395982282 | SLC12A3 | c.832G>C (p.Gly278Arg) c.829G>C (p.Gly277Arg) | |
16 | g.56870716G>T | CA395982283 | SLC12A3 | c.832G>T (p.Gly278Cys) c.829G>T (p.Gly277Cys) | |
16 | g.56870717G>A | CA395982285 | SLC12A3 | c.833G>A (p.Gly278Asp) c.830G>A (p.Gly277Asp) | |
16 | g.56870717G>C | CA395982284 | SLC12A3 | c.833G>C (p.Gly278Ala) c.830G>C (p.Gly277Ala) | |
16 | g.56870717G= | CA2224349572 | SLC12A3 | c.833G= (p.Gly278=) c.830G= (p.Gly277=) | |
16 | g.56870717G>T | CA281497132 | SLC12A3 | c.833G>T (p.Gly278Val) c.830G>T (p.Gly277Val) | dbSNP |
16 | g.56870718_56870721del | CA2576002069 | SLC12A3 | c.834_837del (p.Met279SerfsTer22) c.831_834del (p.Met278SerfsTer22) | |
16 | g.56870718C>A | CA495603230 | SLC12A3 | c.834C>A (p.Gly278=) c.831C>A (p.Gly277=) | |
16 | g.56870718C>G | CA495603231 | SLC12A3 | c.834C>G (p.Gly278=) c.831C>G (p.Gly277=) | |
16 | g.56870718C>T | CA495603232 | SLC12A3 | c.834C>T (p.Gly278=) c.831C>T (p.Gly277=) | |
16 | g.56870719A= | CA2224349573 | SLC12A3 | c.835A= (p.Met279=) c.832A= (p.Met278=) | |
16 | g.56870719A>C | CA395982286 | SLC12A3 | c.835A>C (p.Met279Leu) c.832A>C (p.Met278Leu) | |
16 | g.56870719A>G | CA395982287 | SLC12A3 | c.835A>G (p.Met279Val) c.832A>G (p.Met278Val) | dbSNP gnomAD v4 |
16 | g.56870719A>T | CA395982288 | SLC12A3 | c.835A>T (p.Met279Leu) c.832A>T (p.Met278Leu) | |
16 | g.56870720T>A | CA395982289 | SLC12A3 | c.836T>A (p.Met279Lys) c.833T>A (p.Met278Lys) | |
16 | g.56870720T>C | CA395982290 | SLC12A3 | c.836T>C (p.Met279Thr) c.833T>C (p.Met278Thr) | gnomAD v4 |
16 | g.56870720T>G | CA395982291 | SLC12A3 | c.836T>G (p.Met279Arg) c.833T>G (p.Met278Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870720T= | CA2224349574 | SLC12A3 | c.836T= (p.Met279=) c.833T= (p.Met278=) | |
16 | g.56870721G>A | CA395982292 | SLC12A3 | c.837G>A (p.Met279Ile) c.834G>A (p.Met278Ile) | COSMIC |
16 | g.56870721G>C | CA395982294 | SLC12A3 | c.837G>C (p.Met279Ile) c.834G>C (p.Met278Ile) | |
16 | g.56870721G= | CA2224349575 | SLC12A3 | c.837G= (p.Met279=) c.834G= (p.Met278=) | |
16 | g.56870721G>T | CA395982293 | SLC12A3 | c.837G>T (p.Met279Ile) c.834G>T (p.Met278Ile) | dbSNP gnomAD v2 |
16 | g.56870722del | CA2843424438 | SLC12A3 | c.838del (p.Glu280SerfsTer22) c.835del (p.Glu279SerfsTer22) | |
16 | g.56870722G>A | CA395982295 | SLC12A3 | c.838G>A (p.Glu280Lys) c.835G>A (p.Glu279Lys) | |
16 | g.56870722G>C | CA395982296 | SLC12A3 | c.838G>C (p.Glu280Gln) c.835G>C (p.Glu279Gln) | |
16 | g.56870722G>T | CA395982297 | SLC12A3 | c.838G>T (p.Glu280Ter) c.835G>T (p.Glu279Ter) | |
16 | g.56870723A>C | CA395982298 | SLC12A3 | c.839A>C (p.Glu280Ala) c.836A>C (p.Glu279Ala) | |
16 | g.56870723A>G | CA395982299 | SLC12A3 | c.839A>G (p.Glu280Gly) c.836A>G (p.Glu279Gly) | |
16 | g.56870723A>T | CA395982300 | SLC12A3 | c.839A>T (p.Glu280Val) c.836A>T (p.Glu279Val) | COSMIC |
16 | g.56870724G>A | CA495603233 | SLC12A3 | c.840G>A (p.Glu280=) c.837G>A (p.Glu279=) | ClinVar dbSNP gnomAD v2 |
16 | g.56870724G>C | CA395982301 | SLC12A3 | c.840G>C (p.Glu280Asp) c.837G>C (p.Glu279Asp) | |
16 | g.56870724G= | CA2224349576 | SLC12A3 | c.840G= (p.Glu280=) c.837G= (p.Glu279=) | |
16 | g.56870724G>T | CA395982302 | SLC12A3 | c.840G>T (p.Glu280Asp) c.837G>T (p.Glu279Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870725T>A | CA395982303 | SLC12A3 | c.841T>A (p.Trp281Arg) c.838T>A (p.Trp280Arg) | |
16 | g.56870725T>C | CA8069223 | SLC12A3 | c.841T>C (p.Trp281Arg) c.838T>C (p.Trp280Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870725T>G | CA395982304 | SLC12A3 | c.841T>G (p.Trp281Gly) c.838T>G (p.Trp280Gly) | |
16 | g.56870725T= | CA2224349577 | SLC12A3 | c.841T= (p.Trp281=) c.838T= (p.Trp280=) | |
16 | g.56870725_56870726insA | CA722005777 | SLC12A3 | c.841_842insA (p.Trp281Ter) c.838_839insA (p.Trp280Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.56870726G>A | CA395982305 | SLC12A3 | c.842G>A (p.Trp281Ter) c.839G>A (p.Trp280Ter) | ClinVar |
16 | g.56870726G>C | CA395982307 | SLC12A3 | c.842G>C (p.Trp281Ser) c.839G>C (p.Trp280Ser) | |
16 | g.56870726G>T | CA395982306 | SLC12A3 | c.842G>T (p.Trp281Leu) c.839G>T (p.Trp280Leu) | |
16 | g.56870728del | CA2633372232 | SLC12A3 | c.844del (p.Glu282SerfsTer20) c.841del (p.Glu281SerfsTer20) | gnomAD v4 |
16 | g.56870727_56870730dup | CA2580613876 | SLC12A3 | c.843_846dup (p.Ser283GlyfsTer29) c.840_843dup (p.Ser282GlyfsTer29) | ClinVar |
16 | g.56870727G>A | CA395982308 | SLC12A3 | c.843G>A (p.Trp281Ter) c.840G>A (p.Trp280Ter) | gnomAD v4 |
16 | g.56870727G>C | CA395982310 | SLC12A3 | c.843G>C (p.Trp281Cys) c.840G>C (p.Trp280Cys) | |
16 | g.56870727G>T | CA395982309 | SLC12A3 | c.843G>T (p.Trp281Cys) c.840G>T (p.Trp280Cys) | |
16 | g.56870728G>A | CA395982311 | SLC12A3 | c.844G>A (p.Glu282Lys) c.841G>A (p.Glu281Lys) | |
16 | g.56870728G>C | CA395982313 | SLC12A3 | c.844G>C (p.Glu282Gln) c.841G>C (p.Glu281Gln) | |
16 | g.56870728G>T | CA395982312 | SLC12A3 | c.844G>T (p.Glu282Ter) c.841G>T (p.Glu281Ter) | |
16 | g.56870729A>C | CA395982314 | SLC12A3 | c.845A>C (p.Glu282Ala) c.842A>C (p.Glu281Ala) | |
16 | g.56870729A>G | CA395982316 | SLC12A3 | c.845A>G (p.Glu282Gly) c.842A>G (p.Glu281Gly) | |
16 | g.56870729A>T | CA395982315 | SLC12A3 | c.845A>T (p.Glu282Val) c.842A>T (p.Glu281Val) | |
16 | g.56870730G>A | CA495603234 | SLC12A3 | c.846G>A (p.Glu282=) c.843G>A (p.Glu281=) | gnomAD v4 |
16 | g.56870730G>C | CA395982317 | SLC12A3 | c.846G>C (p.Glu282Asp) c.843G>C (p.Glu281Asp) | |
16 | g.56870730G>T | CA395982318 | SLC12A3 | c.846G>T (p.Glu282Asp) c.843G>T (p.Glu281Asp) | gnomAD v4 |
16 | g.56870731T>A | CA8069224 | SLC12A3 | c.847T>A (p.Ser283Thr) c.844T>A (p.Ser282Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870731T>C | CA395982319 | SLC12A3 | c.847T>C (p.Ser283Pro) c.844T>C (p.Ser282Pro) | |
16 | g.56870731T>G | CA395982320 | SLC12A3 | c.847T>G (p.Ser283Ala) c.844T>G (p.Ser282Ala) | |
16 | g.56870731T= | CA2224349578 | SLC12A3 | c.847T= (p.Ser283=) c.844T= (p.Ser282=) | |
16 | g.56870732C>A | CA395982321 | SLC12A3 | c.848C>A (p.Ser283Tyr) c.845C>A (p.Ser282Tyr) | dbSNP gnomAD v4 |
16 | g.56870732C= | CA2224349579 | SLC12A3 | c.848C= (p.Ser283=) c.845C= (p.Ser282=) | |
16 | g.56870732C>G | CA395982322 | SLC12A3 | c.848C>G (p.Ser283Cys) c.845C>G (p.Ser282Cys) | |
16 | g.56870732C>T | CA395982323 | SLC12A3 | c.848C>T (p.Ser283Phe) c.845C>T (p.Ser282Phe) | |
16 | g.56870733C>A | CA495603235 | SLC12A3 | c.849C>A (p.Ser283=) c.846C>A (p.Ser282=) | gnomAD v4 |
16 | g.56870733C>G | CA495603236 | SLC12A3 | c.849C>G (p.Ser283=) c.846C>G (p.Ser282=) | |
16 | g.56870733C>T | CA495603237 | SLC12A3 | c.849C>T (p.Ser283=) c.846C>T (p.Ser282=) | |
16 | g.56870734A= | CA2224349580 | SLC12A3 | c.850A= (p.Lys284=) c.847A= (p.Lys283=) | |
16 | g.56870734A>C | CA8069225 | SLC12A3 | c.850A>C (p.Lys284Gln) c.847A>C (p.Lys283Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870734A>G | CA395982324 | SLC12A3 | c.850A>G (p.Lys284Glu) c.847A>G (p.Lys283Glu) | |
16 | g.56870734A>T | CA395982325 | SLC12A3 | c.850A>T (p.Lys284Ter) c.847A>T (p.Lys283Ter) | |
16 | g.56870735A= | CA2224349581 | SLC12A3 | c.851A= (p.Lys284=) c.848A= (p.Lys283=) | |
16 | g.56870735A>C | CA395982326 | SLC12A3 | c.851A>C (p.Lys284Thr) c.848A>C (p.Lys283Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870735A>G | CA395982327 | SLC12A3 | c.851A>G (p.Lys284Arg) c.848A>G (p.Lys283Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870735A>T | CA395982328 | SLC12A3 | c.851A>T (p.Lys284Met) c.848A>T (p.Lys283Met) | gnomAD v4 |
16 | g.56870736G>A | CA495603238 | SLC12A3 | c.852G>A (p.Lys284=) c.849G>A (p.Lys283=) | gnomAD v4 |
16 | g.56870736G>C | CA395982329 | SLC12A3 | c.852G>C (p.Lys284Asn) c.849G>C (p.Lys283Asn) | |
16 | g.56870736G>T | CA395982330 | SLC12A3 | c.852G>T (p.Lys284Asn) c.849G>T (p.Lys283Asn) | |
16 | g.56870737G>A | CA395982331 | SLC12A3 | c.852+1G>A (n.852+1G>A) c.849+1G>A (n.849+1G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.56870737G>C | CA395982332 | SLC12A3 | c.852+1G>C (n.852+1G>C) c.849+1G>C (n.849+1G>C) | |
16 | g.56870737G= | CA2224349582 | SLC12A3 | c.852+1G= (n.852+1G=) c.849+1G= (n.849+1G=) | |
16 | g.56870737G>T | CA395982333 | SLC12A3 | c.852+1G>T (n.852+1G>T) c.849+1G>T (n.849+1G>T) | |
16 | g.56870738T>A | CA395982334 | SLC12A3 | c.852+2T>A (n.852+2T>A) c.849+2T>A (n.849+2T>A) | |
16 | g.56870738T>C | CA395982335 | SLC12A3 | c.852+2T>C (n.852+2T>C) c.849+2T>C (n.849+2T>C) | |
16 | g.56870738T>G | CA395982336 | SLC12A3 | c.852+2T>G (n.852+2T>G) c.849+2T>G (n.849+2T>G) | dbSNP gnomAD v4 |
16 | g.56870738T= | CA2224349584 | SLC12A3 | c.852+2T= (n.852+2T=) c.849+2T= (n.849+2T=) | |
16 | g.56870738_56870741delinsTGAG | CA2224349583 | SLC12A3 | c.852+2_852+5delinsTGAG (n.852+2_852+5delinsTGAG) c.849+2_849+5delinsTGAG (n.849+2_849+5delinsTGAG) | |
16 | g.56870739G>A | CA8069227 | SLC12A3 | c.852+3G>A (n.852+3G>A) c.849+3G>A (n.849+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870739G= | CA2224349585 | SLC12A3 | c.852+3G= (n.852+3G=) c.849+3G= (n.849+3G=) | |
16 | g.56870743_56870745del | CA8069226 | SLC12A3 | c.852+7_852+9del (n.852+7_852+9del) c.849+7_849+9del (n.849+7_849+9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870743_56870757del | CA2633372284 | SLC12A3 | c.852+7_852+21del (n.852+7_852+21del) c.849+7_849+21del (n.849+7_849+21del) | gnomAD v4 |
16 | g.56870740A>G | CA2633372289 | SLC12A3 | c.852+4A>G (n.852+4A>G) c.849+4A>G (n.849+4A>G) | gnomAD v4 |
16 | g.56870741G>A | CA281497164 | SLC12A3 | c.852+5G>A (n.852+5G>A) c.849+5G>A (n.849+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870741G= | CA2224349586 | SLC12A3 | c.852+5G= (n.852+5G=) c.849+5G= (n.849+5G=) | |
16 | g.56870741G>T | CA2224349587 | SLC12A3 | c.852+5G>T (n.852+5G>T) c.849+5G>T (n.849+5G>T) | dbSNP gnomAD v4 |
16 | g.56870742G>A | CA2633372349 | SLC12A3 | c.852+6G>A (n.852+6G>A) c.849+6G>A (n.849+6G>A) | gnomAD v4 |
16 | g.56870743del | CA2633372351 | SLC12A3 | c.852+7del (n.852+7del) c.849+7del (n.849+7del) | gnomAD v4 |
16 | g.56870744G>T | CA2839815747 | SLC12A3 | c.852+8G>T (n.852+8G>T) c.849+8G>T (n.849+8G>T) | |
16 | g.56870745G>A | CA2633372354 | SLC12A3 | c.852+9G>A (n.852+9G>A) c.849+9G>A (n.849+9G>A) | gnomAD v4 |
16 | g.56870745G>T | CA2843424439 | SLC12A3 | c.852+9G>T (n.852+9G>T) c.849+9G>T (n.849+9G>T) | |
16 | g.56870746C>A | CA2576002080 | SLC12A3 | c.852+10C>A (n.852+10C>A) c.849+10C>A (n.849+10C>A) | gnomAD v4 |
16 | g.56870746C>T | CA2633372357 | SLC12A3 | c.852+10C>T (n.852+10C>T) c.849+10C>T (n.849+10C>T) | gnomAD v4 |
16 | g.56870747del | CA2633372361 | SLC12A3 | c.852+11del (n.852+11del) c.849+11del (n.849+11del) | gnomAD v4 |
16 | g.56870747C>A | CA2633372369 | SLC12A3 | c.852+11C>A (n.852+11C>A) c.849+11C>A (n.849+11C>A) | gnomAD v4 |
16 | g.56870755_56870769dup | CA2573152450 | SLC12A3 | c.852+19_852+33dup (n.852+19_852+33dup) c.849+19_849+33dup (n.849+19_849+33dup) | ClinVar dbSNP gnomAD v4 |
16 | g.56870755_56870769del | CA2633372372 | SLC12A3 | c.852+19_852+33del (n.852+19_852+33del) c.849+19_849+33del (n.849+19_849+33del) | gnomAD v4 |
16 | g.56870748A= | CA2224349588 | SLC12A3 | c.852+12A= (n.852+12A=) c.849+12A= (n.849+12A=) | |
16 | g.56870748A>G | CA281497170 | SLC12A3 | c.852+12A>G (n.852+12A>G) c.849+12A>G (n.849+12A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870750G>T | CA2843424440 | SLC12A3 | c.852+14G>T (n.852+14G>T) c.849+14G>T (n.849+14G>T) | |
16 | g.56870751G>A | CA977638355 | SLC12A3 | c.852+15G>A (n.852+15G>A) c.849+15G>A (n.849+15G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870751G= | CA2224349589 | SLC12A3 | c.852+15G= (n.852+15G=) c.849+15G= (n.849+15G=) | |
16 | g.56870752A>G | CA2633372376 | SLC12A3 | c.852+16A>G (n.852+16A>G) c.849+16A>G (n.849+16A>G) | gnomAD v4 |
16 | g.56870753G>A | CA2576002083 | SLC12A3 | c.852+17G>A (n.852+17G>A) c.849+17G>A (n.849+17G>A) | gnomAD v4 |
16 | g.56870754G>A | CA8069228 | SLC12A3 | c.852+18G>A (n.852+18G>A) c.849+18G>A (n.849+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870754G= | CA2224349590 | SLC12A3 | c.852+18G= (n.852+18G=) c.849+18G= (n.849+18G=) | |
16 | g.56870754G>T | CA2633372382 | SLC12A3 | c.852+18G>T (n.852+18G>T) c.849+18G>T (n.849+18G>T) | ClinVar gnomAD v4 |
16 | g.56870755A= | CA2224349591 | SLC12A3 | c.852+19A= (n.852+19A=) c.849+19A= (n.849+19A=) | |
16 | g.56870755A>G | CA2633372384 | SLC12A3 | c.852+19A>G (n.852+19A>G) c.849+19A>G (n.849+19A>G) | gnomAD v4 |
16 | g.56870755A>T | CA722005816 | SLC12A3 | c.852+19A>T (n.852+19A>T) c.849+19A>T (n.849+19A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870756G>C | CA2576002087 | SLC12A3 | c.852+20G>C (n.852+20G>C) c.849+20G>C (n.849+20G>C) | ClinVar gnomAD v4 |
16 | g.56870760del | CA2576002086 | SLC12A3 | c.852+24del (n.852+24del) c.849+24del (n.849+24del) | gnomAD v4 |
16 | g.56870757G>A | CA656443643 | SLC12A3 | c.852+21G>A (n.852+21G>A) c.849+21G>A (n.849+21G>A) | dbSNP gnomAD v4 COSMIC |
16 | g.56870757G= | CA2224349592 | SLC12A3 | c.852+21G= (n.852+21G=) c.849+21G= (n.849+21G=) | |
16 | g.56870757G>T | CA2843424441 | SLC12A3 | c.852+21G>T (n.852+21G>T) c.849+21G>T (n.849+21G>T) | |
16 | g.56870758G>A | CA8069229 | SLC12A3 | c.852+22G>A (n.852+22G>A) c.849+22G>A (n.849+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870758G>C | CA8069230 | SLC12A3 | c.852+22G>C (n.852+22G>C) c.849+22G>C (n.849+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870758G= | CA2224349593 | SLC12A3 | c.852+22G= (n.852+22G=) c.849+22G= (n.849+22G=) | |
16 | g.56870758G>T | CA622334375 | SLC12A3 | c.852+22G>T (n.852+22G>T) c.849+22G>T (n.849+22G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870759G>A | CA2633372414 | SLC12A3 | c.852+23G>A (n.852+23G>A) c.849+23G>A (n.849+23G>A) | dbSNP gnomAD v4 |
16 | g.56870759G>T | CA2633372417 | SLC12A3 | c.852+23G>T (n.852+23G>T) c.849+23G>T (n.849+23G>T) | gnomAD v4 |
16 | g.56870760G>A | CA8069231 | SLC12A3 | c.852+24G>A (n.852+24G>A) c.849+24G>A (n.849+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870760G>C | CA2224349595 | SLC12A3 | c.852+24G>C (n.852+24G>C) c.849+24G>C (n.849+24G>C) | dbSNP gnomAD v4 |
16 | g.56870760G= | CA2224349594 | SLC12A3 | c.852+24G= (n.852+24G=) c.849+24G= (n.849+24G=) | |
16 | g.56870760G>T | CA2633372422 | SLC12A3 | c.852+24G>T (n.852+24G>T) c.849+24G>T (n.849+24G>T) | gnomAD v4 |
16 | g.56870761A= | CA2224349596 | SLC12A3 | c.852+25A= (n.852+25A=) c.849+25A= (n.849+25A=) | |
16 | g.56870761A>G | CA2224349597 | SLC12A3 | c.852+25A>G (n.852+25A>G) c.849+25A>G (n.849+25A>G) | dbSNP gnomAD v4 |
16 | g.56870761A>T | CA2633372438 | SLC12A3 | c.852+25A>T (n.852+25A>T) c.849+25A>T (n.849+25A>T) | gnomAD v4 |
16 | g.56870761dup | CA622334376 | SLC12A3 | c.852+25dup (n.852+25dup) c.849+25dup (n.849+25dup) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870762C>A | CA8069232 | SLC12A3 | c.852+26C>A (n.852+26C>A) c.849+26C>A (n.849+26C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870762C= | CA2224349598 | SLC12A3 | c.852+26C= (n.852+26C=) c.849+26C= (n.849+26C=) | |
16 | g.56870762C>G | CA2732150339 | SLC12A3 | c.852+26C>G (n.852+26C>G) c.849+26C>G (n.849+26C>G) | dbSNP |
16 | g.56870762C>T | CA2843424442 | SLC12A3 | c.852+26C>T (n.852+26C>T) c.849+26C>T (n.849+26C>T) | |
16 | g.56870763A>G | CA2732477236 | SLC12A3 | c.852+27A>G (n.852+27A>G) c.849+27A>G (n.849+27A>G) | dbSNP |
16 | g.56870764T>C | CA2633372443 | SLC12A3 | c.852+28T>C (n.852+28T>C) c.849+28T>C (n.849+28T>C) | gnomAD v4 |
16 | g.56870765G>A | CA2807159869 | SLC12A3 | c.852+29G>A (n.852+29G>A) c.849+29G>A (n.849+29G>A) | |
16 | g.56870766dup | CA2839815748 | SLC12A3 | c.852+30dup (n.852+30dup) c.849+30dup (n.849+30dup) | |
16 | g.56870766G>C | CA2633372444 | SLC12A3 | c.852+30G>C (n.852+30G>C) c.849+30G>C (n.849+30G>C) | gnomAD v4 |
16 | g.56870767A>G | CA2576002090 | SLC12A3 | c.852+31A>G (n.852+31A>G) c.849+31A>G (n.849+31A>G) | |
16 | g.56870768G>A | CA2633372447 | SLC12A3 | c.852+32G>A (n.852+32G>A) c.849+32G>A (n.849+32G>A) | gnomAD v4 |
16 | g.56870769G>A | CA8069233 | SLC12A3 | c.852+33G>A (n.852+33G>A) c.849+33G>A (n.849+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870769G= | CA2224349599 | SLC12A3 | c.852+33G= (n.852+33G=) c.849+33G= (n.849+33G=) | |
16 | g.56870769G>T | CA2633372449 | SLC12A3 | c.852+33G>T (n.852+33G>T) c.849+33G>T (n.849+33G>T) | gnomAD v4 |
16 | g.56870770T>C | CA2633372453 | SLC12A3 | c.852+34T>C (n.852+34T>C) c.849+34T>C (n.849+34T>C) | gnomAD v4 |
16 | g.56870771G>T | CA2633372454 | SLC12A3 | c.852+35G>T (n.852+35G>T) c.849+35G>T (n.849+35G>T) | gnomAD v4 |
16 | g.56870772G>A | CA722005835 | SLC12A3 | c.852+36G>A (n.852+36G>A) c.849+36G>A (n.849+36G>A) | dbSNP gnomAD v4 |
16 | g.56870772G= | CA2224349600 | SLC12A3 | c.852+36G= (n.852+36G=) c.849+36G= (n.849+36G=) | |
16 | g.56870772G>T | CA622334379 | SLC12A3 | c.852+36G>T (n.852+36G>T) c.849+36G>T (n.849+36G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870774C>A | CA2576002093 | SLC12A3 | c.852+38C>A (n.852+38C>A) c.849+38C>A (n.849+38C>A) | gnomAD v4 |
16 | g.56870774C>G | CA2838376341 | SLC12A3 | c.852+38C>G (n.852+38C>G) c.849+38C>G (n.849+38C>G) | |
16 | g.56870774C>T | CA2633372456 | SLC12A3 | c.852+38C>T (n.852+38C>T) c.849+38C>T (n.849+38C>T) | gnomAD v4 |
16 | g.56870775A= | CA2224349601 | SLC12A3 | c.852+39A= (n.852+39A=) c.849+39A= (n.849+39A=) | |
16 | g.56870775A>T | CA8069234 | SLC12A3 | c.852+39A>T (n.852+39A>T) c.849+39A>T (n.849+39A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870776del | CA2843424443 | SLC12A3 | c.852+40del (n.852+40del) c.849+40del (n.849+40del) | |
16 | g.56870776C>A | CA2633372459 | SLC12A3 | c.852+40C>A (n.852+40C>A) c.849+40C>A (n.849+40C>A) | gnomAD v4 |
16 | g.56870776C= | CA2224349602 | SLC12A3 | c.852+40C= (n.852+40C=) c.849+40C= (n.849+40C=) | |
16 | g.56870776C>T | CA8069235 | SLC12A3 | c.852+40C>T (n.852+40C>T) c.849+40C>T (n.849+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870777G>A | CA8069236 | SLC12A3 | c.852+41G>A (n.852+41G>A) c.849+41G>A (n.849+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870777G>C | CA2633372461 | SLC12A3 | c.852+41G>C (n.852+41G>C) c.849+41G>C (n.849+41G>C) | gnomAD v4 |
16 | g.56870777G= | CA2224349603 | SLC12A3 | c.852+41G= (n.852+41G=) c.849+41G= (n.849+41G=) | |
16 | g.56870778T>A | CA2633372464 | SLC12A3 | c.852+42T>A (n.852+42T>A) c.849+42T>A (n.849+42T>A) | gnomAD v4 |
16 | g.56870779G>A | CA2633372465 | SLC12A3 | c.852+43G>A (n.852+43G>A) c.849+43G>A (n.849+43G>A) | gnomAD v4 |
16 | g.56870780del | CA2838361224 | SLC12A3 | c.852+44del (n.852+44del) c.849+44del (n.849+44del) | |
16 | g.56870780G>A | CA2633372469 | SLC12A3 | c.852+44G>A (n.852+44G>A) c.849+44G>A (n.849+44G>A) | gnomAD v4 |
16 | g.56870781A>G | CA2633372473 | SLC12A3 | c.852+45A>G (n.852+45A>G) c.849+45A>G (n.849+45A>G) | gnomAD v4 |
16 | g.56870782G>A | CA2843424444 | SLC12A3 | c.852+46G>A (n.852+46G>A) c.849+46G>A (n.849+46G>A) | |
16 | g.56870782G>T | CA2633372474 | SLC12A3 | c.852+46G>T (n.852+46G>T) c.849+46G>T (n.849+46G>T) | gnomAD v4 |
16 | g.56870784A>C | CA2633372475 | SLC12A3 | c.852+48A>C (n.852+48A>C) c.849+48A>C (n.849+48A>C) | gnomAD v4 |
16 | g.56870785G>T | CA2633372477 | SLC12A3 | c.852+49G>T (n.852+49G>T) c.849+49G>T (n.849+49G>T) | gnomAD v4 |
16 | g.56870786C>A | CA8069238 | SLC12A3 | c.852+50C>A (n.852+50C>A) c.849+50C>A (n.849+50C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.56870786C= | CA2224349604 | SLC12A3 | c.852+50C= (n.852+50C=) c.849+50C= (n.849+50C=) | |
16 | g.56870786C>T | CA8069237 | SLC12A3 | c.852+50C>T (n.852+50C>T) c.849+50C>T (n.849+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870787G>A | CA8069239 | SLC12A3 | c.852+51G>A (n.852+51G>A) c.849+51G>A (n.849+51G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870787G= | CA2224349605 | SLC12A3 | c.852+51G= (n.852+51G=) c.849+51G= (n.849+51G=) | |
16 | g.56870787G>T | CA722005845 | SLC12A3 | c.852+51G>T (n.852+51G>T) c.849+51G>T (n.849+51G>T) | dbSNP gnomAD v4 |
16 | g.56870791del | CA2843424445 | SLC12A3 | c.852+55del (n.852+55del) c.849+55del (n.849+55del) | |
16 | g.56870788G>A | CA8069240 | SLC12A3 | c.852+52G>A (n.852+52G>A) c.849+52G>A (n.849+52G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870788G= | CA2224349606 | SLC12A3 | c.852+52G= (n.852+52G=) c.849+52G= (n.849+52G=) | |
16 | g.56870788G>T | CA2838361237 | SLC12A3 | c.852+52G>T (n.852+52G>T) c.849+52G>T (n.849+52G>T) | |
16 | g.56870789G>A | CA2840054189 | SLC12A3 | c.852+53G>A (n.852+53G>A) c.849+53G>A (n.849+53G>A) | |
16 | g.56870789G>T | CA2633372499 | SLC12A3 | c.852+53G>T (n.852+53G>T) c.849+53G>T (n.849+53G>T) | gnomAD v4 |
16 | g.56870790G>A | CA622334383 | SLC12A3 | c.852+54G>A (n.852+54G>A) c.849+54G>A (n.849+54G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870790G>C | CA281497238 | SLC12A3 | c.852+54G>C (n.852+54G>C) c.849+54G>C (n.849+54G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870790G= | CA2224349607 | SLC12A3 | c.852+54G= (n.852+54G=) c.849+54G= (n.849+54G=) | |
16 | g.56870790G>T | CA722005853 | SLC12A3 | c.852+54G>T (n.852+54G>T) c.849+54G>T (n.849+54G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870791G>A | CA281497243 | SLC12A3 | c.852+55G>A (n.852+55G>A) c.849+55G>A (n.849+55G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870791G= | CA2224349608 | SLC12A3 | c.852+55G= (n.852+55G=) c.849+55G= (n.849+55G=) | |
16 | g.56870791G>T | CA722005857 | SLC12A3 | c.852+55G>T (n.852+55G>T) c.849+55G>T (n.849+55G>T) | dbSNP gnomAD v4 |
16 | g.56870792T>G | CA2224349610 | SLC12A3 | c.852+56T>G (n.852+56T>G) c.849+56T>G (n.849+56T>G) | dbSNP gnomAD v4 |
16 | g.56870792T= | CA2224349609 | SLC12A3 | c.852+56T= (n.852+56T=) c.849+56T= (n.849+56T=) | |
16 | g.56870793dup | CA2524070976 | SLC12A3 | c.852+57dup (n.852+57dup) c.849+57dup (n.849+57dup) | |
16 | g.56870793del | CA2843424446 | SLC12A3 | c.852+57del (n.852+57del) c.849+57del (n.849+57del) | |
16 | g.56870794G>A | CA2633372511 | SLC12A3 | c.852+58G>A (n.852+58G>A) c.849+58G>A (n.849+58G>A) | gnomAD v4 |
16 | g.56870794G>T | CA2633372512 | SLC12A3 | c.852+58G>T (n.852+58G>T) c.849+58G>T (n.849+58G>T) | gnomAD v4 |
16 | g.56870795C>A | CA2633372514 | SLC12A3 | c.852+59C>A (n.852+59C>A) c.849+59C>A (n.849+59C>A) | gnomAD v4 |
16 | g.56870795C>T | CA2633372515 | SLC12A3 | c.852+59C>T (n.852+59C>T) c.849+59C>T (n.849+59C>T) | gnomAD v4 |
16 | g.56870796del | CA2576002099 | SLC12A3 | c.852+60del (n.852+60del) c.849+60del (n.849+60del) | |
16 | g.56870796C>A | CA2224349612 | SLC12A3 | c.852+60C>A (n.852+60C>A) c.849+60C>A (n.849+60C>A) | dbSNP gnomAD v4 |
16 | g.56870796C= | CA2224349611 | SLC12A3 | c.852+60C= (n.852+60C=) c.849+60C= (n.849+60C=) | |
16 | g.56870796C>T | CA622334387 | SLC12A3 | c.852+60C>T (n.852+60C>T) c.849+60C>T (n.849+60C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870797A= | CA2224349613 | SLC12A3 | c.852+61A= (n.852+61A=) c.849+61A= (n.849+61A=) | |
16 | g.56870797A>G | CA2576002102 | SLC12A3 | c.852+61A>G (n.852+61A>G) c.849+61A>G (n.849+61A>G) | gnomAD v4 |
16 | g.56870797A>T | CA977638383 | SLC12A3 | c.852+61A>T (n.852+61A>T) c.849+61A>T (n.849+61A>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870798G>A | CA2633372526 | SLC12A3 | c.852+62G>A (n.852+62G>A) c.849+62G>A (n.849+62G>A) | gnomAD v4 |
16 | g.56870798G>T | CA2633372528 | SLC12A3 | c.852+62G>T (n.852+62G>T) c.849+62G>T (n.849+62G>T) | gnomAD v4 |
16 | g.56870799G>A | CA2633372530 | SLC12A3 | c.852+63G>A (n.852+63G>A) c.849+63G>A (n.849+63G>A) | gnomAD v4 |
16 | g.56870799G>T | CA2633372531 | SLC12A3 | c.852+63G>T (n.852+63G>T) c.849+63G>T (n.849+63G>T) | gnomAD v4 |
16 | g.56870800C>A | CA2633372537 | SLC12A3 | c.852+64C>A (n.852+64C>A) c.849+64C>A (n.849+64C>A) | gnomAD v4 |
16 | g.56870800C= | CA2224349614 | SLC12A3 | c.852+64C= (n.852+64C=) c.849+64C= (n.849+64C=) | |
16 | g.56870800C>T | CA722005861 | SLC12A3 | c.852+64C>T (n.852+64C>T) c.849+64C>T (n.849+64C>T) | dbSNP gnomAD v4 |
16 | g.56870801del | CA2633372533 | SLC12A3 | c.852+65del (n.852+65del) c.849+65del (n.849+65del) | gnomAD v4 |
16 | g.56870805_56870815del | CA2633372536 | SLC12A3 | c.852+69_852+79del (n.852+69_852+79del) c.849+69_849+79del (n.849+69_849+79del) | gnomAD v4 |
16 | g.56870801C= | CA2224349615 | SLC12A3 | c.852+65C= (n.852+65C=) c.849+65C= (n.849+65C=) | |
16 | g.56870801C>T | CA722005862 | SLC12A3 | c.852+65C>T (n.852+65C>T) c.849+65C>T (n.849+65C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870802T>A | CA2633372542 | SLC12A3 | c.852+66T>A (n.852+66T>A) c.849+66T>A (n.849+66T>A) | gnomAD v4 |
16 | g.56870802T>C | CA2633372545 | SLC12A3 | c.852+66T>C (n.852+66T>C) c.849+66T>C (n.849+66T>C) | gnomAD v4 |
16 | g.56870802T>G | CA2633372567 | SLC12A3 | c.852+66T>G (n.852+66T>G) c.849+66T>G (n.849+66T>G) | gnomAD v4 |