Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149980479A>C | CA361706490 | SLC26A2 | c.886A>C (p.Asn296His) c.372+2128A>C (n.372+2128A>C) | |
5 | g.149980479A>G | CA361706491 | SLC26A2 | c.886A>G (p.Asn296Asp) c.372+2128A>G (n.372+2128A>G) | COSMIC |
5 | g.149980479A>T | CA361706492 | SLC26A2 | c.886A>T (p.Asn296Tyr) c.372+2128A>T (n.372+2128A>T) | |
5 | g.149980480A>C | CA361706493 | SLC26A2 | c.887A>C (p.Asn296Thr) c.372+2129A>C (n.372+2129A>C) | |
5 | g.149980480A>G | CA361706494 | SLC26A2 | c.887A>G (p.Asn296Ser) c.372+2129A>G (n.372+2129A>G) | |
5 | g.149980480A>T | CA361706495 | SLC26A2 | c.887A>T (p.Asn296Ile) c.372+2129A>T (n.372+2129A>T) | |
5 | g.149980481C>A | CA361706496 | SLC26A2 | c.888C>A (p.Asn296Lys) c.372+2130C>A (n.372+2130C>A) | |
5 | g.149980481C= | CA1590738390 | SLC26A2 | c.888C= (p.Asn296=) c.372+2130C= (n.372+2130C=) | |
5 | g.149980481C>G | CA361706497 | SLC26A2 | c.888C>G (p.Asn296Lys) c.372+2130C>G (n.372+2130C>G) | |
5 | g.149980481C>T | CA447402252 | SLC26A2 | c.888C>T (p.Asn296=) c.372+2130C>T (n.372+2130C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980482A>C | CA361706498 | SLC26A2 | c.889A>C (p.Ile297Leu) c.372+2131A>C (n.372+2131A>C) | |
5 | g.149980482A>G | CA361706499 | SLC26A2 | c.889A>G (p.Ile297Val) c.372+2131A>G (n.372+2131A>G) | |
5 | g.149980482A>T | CA361706500 | SLC26A2 | c.889A>T (p.Ile297Phe) c.372+2131A>T (n.372+2131A>T) | |
5 | g.149980483T>A | CA361706503 | SLC26A2 | c.890T>A (p.Ile297Asn) c.372+2132T>A (n.372+2132T>A) | |
5 | g.149980483T>C | CA361706502 | SLC26A2 | c.890T>C (p.Ile297Thr) c.372+2132T>C (n.372+2132T>C) | dbSNP gnomAD v4 |
5 | g.149980483T>G | CA361706501 | SLC26A2 | c.890T>G (p.Ile297Ser) c.372+2132T>G (n.372+2132T>G) | |
5 | g.149980483T= | CA1590738391 | SLC26A2 | c.890T= (p.Ile297=) c.372+2132T= (n.372+2132T=) | |
5 | g.149980484C>A | CA447402257 | SLC26A2 | c.891C>A (p.Ile297=) c.372+2133C>A (n.372+2133C>A) | |
5 | g.149980484C>G | CA361706504 | SLC26A2 | c.891C>G (p.Ile297Met) c.372+2133C>G (n.372+2133C>G) | |
5 | g.149980484C>T | CA447402258 | SLC26A2 | c.891C>T (p.Ile297=) c.372+2133C>T (n.372+2133C>T) | COSMIC |
5 | g.149980485del | CA2695198772 | SLC26A2 | c.892del (p.His298IlefsTer?) c.372+2134del (n.372+2134del) | ClinVar |
5 | g.149980485C>A | CA129083884 | SLC26A2 | c.892C>A (p.His298Asn) c.372+2134C>A (n.372+2134C>A) | ClinVar dbSNP gnomAD v4 |
5 | g.149980485C= | CA1590738392 | SLC26A2 | c.892C= (p.His298=) c.372+2134C= (n.372+2134C=) | |
5 | g.149980485C>G | CA361706505 | SLC26A2 | c.892C>G (p.His298Asp) c.372+2134C>G (n.372+2134C>G) | |
5 | g.149980485C>T | CA129083889 | SLC26A2 | c.892C>T (p.His298Tyr) c.372+2134C>T (n.372+2134C>T) | dbSNP COSMIC |
5 | g.149980486A= | CA1590738393 | SLC26A2 | c.893A= (p.His298=) c.372+2135A= (n.372+2135A=) | |
5 | g.149980486A>C | CA361706506 | SLC26A2 | c.893A>C (p.His298Pro) c.372+2135A>C (n.372+2135A>C) | |
5 | g.149980486A>G | CA3505349 | SLC26A2 | c.893A>G (p.His298Arg) c.372+2135A>G (n.372+2135A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980486A>T | CA361706507 | SLC26A2 | c.893A>T (p.His298Leu) c.372+2135A>T (n.372+2135A>T) | |
5 | g.149980487T>A | CA361706508 | SLC26A2 | c.894T>A (p.His298Gln) c.372+2136T>A (n.372+2136T>A) | |
5 | g.149980487T>C | CA447402260 | SLC26A2 | c.894T>C (p.His298=) c.372+2136T>C (n.372+2136T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149980487T>G | CA361706509 | SLC26A2 | c.894T>G (p.His298Gln) c.372+2136T>G (n.372+2136T>G) | gnomAD v4 |
5 | g.149980487T= | CA1590738395 | SLC26A2 | c.894T= (p.His298=) c.372+2136T= (n.372+2136T=) | |
5 | g.149980487_149980488delinsTA | CA1590738394 | SLC26A2 | c.894_895delinsTA (p.His298=) c.372+2136_372+2137delinsTA (n.372+2136_372+2137delinsTA) | |
5 | g.149980488A>C | CA361706510 | SLC26A2 | c.895A>C (p.Lys299Gln) c.372+2137A>C (n.372+2137A>C) | |
5 | g.149980488A>G | CA361706511 | SLC26A2 | c.895A>G (p.Lys299Glu) c.372+2137A>G (n.372+2137A>G) | ClinVar |
5 | g.149980488A>T | CA361706512 | SLC26A2 | c.895A>T (p.Lys299Ter) c.372+2137A>T (n.372+2137A>T) | |
5 | g.149980489del | CA563955701 | SLC26A2 | c.896del (p.Lys299ArgfsTer?) c.372+2138del (n.372+2138del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980489A>C | CA361706515 | SLC26A2 | c.896A>C (p.Lys299Thr) c.372+2138A>C (n.372+2138A>C) | |
5 | g.149980489A>G | CA361706513 | SLC26A2 | c.896A>G (p.Lys299Arg) c.372+2138A>G (n.372+2138A>G) | gnomAD v4 |
5 | g.149980489A>T | CA361706514 | SLC26A2 | c.896A>T (p.Lys299Met) c.372+2138A>T (n.372+2138A>T) | |
5 | g.149980490G>A | CA3505350 | SLC26A2 | c.897G>A (p.Lys299=) c.372+2139G>A (n.372+2139G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980490G>C | CA361706516 | SLC26A2 | c.897G>C (p.Lys299Asn) c.372+2139G>C (n.372+2139G>C) | |
5 | g.149980490G= | CA1590738396 | SLC26A2 | c.897G= (p.Lys299=) c.372+2139G= (n.372+2139G=) | |
5 | g.149980490G>T | CA129083906 | SLC26A2 | c.897G>T (p.Lys299Asn) c.372+2139G>T (n.372+2139G>T) | dbSNP gnomAD v4 |
5 | g.149980491A>C | CA361706517 | SLC26A2 | c.898A>C (p.Thr300Pro) c.372+2140A>C (n.372+2140A>C) | |
5 | g.149980491A>G | CA361706518 | SLC26A2 | c.898A>G (p.Thr300Ala) c.372+2140A>G (n.372+2140A>G) | |
5 | g.149980491A>T | CA361706519 | SLC26A2 | c.898A>T (p.Thr300Ser) c.372+2140A>T (n.372+2140A>T) | |
5 | g.149980492C>A | CA361706520 | SLC26A2 | c.899C>A (p.Thr300Asn) c.372+2141C>A (n.372+2141C>A) | |
5 | g.149980492C>G | CA361706521 | SLC26A2 | c.899C>G (p.Thr300Ser) c.372+2141C>G (n.372+2141C>G) | |
5 | g.149980492C>T | CA361706522 | SLC26A2 | c.899C>T (p.Thr300Ile) c.372+2141C>T (n.372+2141C>T) | COSMIC |
5 | g.149980493C>A | CA447402267 | SLC26A2 | c.900C>A (p.Thr300=) c.372+2142C>A (n.372+2142C>A) | |
5 | g.149980493C>G | CA447402268 | SLC26A2 | c.900C>G (p.Thr300=) c.372+2142C>G (n.372+2142C>G) | |
5 | g.149980493C>T | CA447402269 | SLC26A2 | c.900C>T (p.Thr300=) c.372+2142C>T (n.372+2142C>T) | |
5 | g.149980494A= | CA1590738397 | SLC26A2 | c.901A= (p.Asn301=) c.372+2143A= (n.372+2143A=) | |
5 | g.149980494A>C | CA3505351 | SLC26A2 | c.901A>C (p.Asn301His) c.372+2143A>C (n.372+2143A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980494A>G | CA361706523 | SLC26A2 | c.901A>G (p.Asn301Asp) c.372+2143A>G (n.372+2143A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149980494A>T | CA361706524 | SLC26A2 | c.901A>T (p.Asn301Tyr) c.372+2143A>T (n.372+2143A>T) | |
5 | g.149980495A= | CA1590738398 | SLC26A2 | c.902A= (p.Asn301=) c.372+2144A= (n.372+2144A=) | |
5 | g.149980495A>C | CA361706526 | SLC26A2 | c.902A>C (p.Asn301Thr) c.372+2144A>C (n.372+2144A>C) | |
5 | g.149980495A>G | CA3505352 | SLC26A2 | c.902A>G (p.Asn301Ser) c.372+2144A>G (n.372+2144A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980495A>T | CA361706525 | SLC26A2 | c.902A>T (p.Asn301Ile) c.372+2144A>T (n.372+2144A>T) | |
5 | g.149980495_149980497delinsATC | CA1590738399 | SLC26A2 | c.902_904delinsATC (p.Asn301=) c.372+2144_372+2146delinsATC (n.372+2144_372+2146delinsATC) | |
5 | g.149980496T>A | CA361706527 | SLC26A2 | c.903T>A (p.Asn301Lys) c.372+2145T>A (n.372+2145T>A) | |
5 | g.149980496T>C | CA3505353 | SLC26A2 | c.903T>C (p.Asn301=) c.372+2145T>C (n.372+2145T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980496T>G | CA361706528 | SLC26A2 | c.903T>G (p.Asn301Lys) c.372+2145T>G (n.372+2145T>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980496T= | CA1590738400 | SLC26A2 | c.903T= (p.Asn301=) c.372+2145T= (n.372+2145T=) | |
5 | g.149980499_149980500del | CA263277 | SLC26A2 | c.906_907del (p.Cys303Ter) c.372+2148_372+2149del (n.372+2148_372+2149del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980497C>A | CA361706529 | SLC26A2 | c.904C>A (p.Leu302Ile) c.372+2146C>A (n.372+2146C>A) | dbSNP |
5 | g.149980497C= | CA1590738401 | SLC26A2 | c.904C= (p.Leu302=) c.372+2146C= (n.372+2146C=) | |
5 | g.149980497C>G | CA361706530 | SLC26A2 | c.904C>G (p.Leu302Val) c.372+2146C>G (n.372+2146C>G) | gnomAD v4 |
5 | g.149980497C>T | CA361706531 | SLC26A2 | c.904C>T (p.Leu302Phe) c.372+2146C>T (n.372+2146C>T) | COSMIC |
5 | g.149980498T>A | CA361706532 | SLC26A2 | c.905T>A (p.Leu302His) c.372+2147T>A (n.372+2147T>A) | |
5 | g.149980498T>C | CA361706534 | SLC26A2 | c.905T>C (p.Leu302Pro) c.372+2147T>C (n.372+2147T>C) | |
5 | g.149980498T>G | CA361706533 | SLC26A2 | c.905T>G (p.Leu302Arg) c.372+2147T>G (n.372+2147T>G) | |
5 | g.149980499C>A | CA447402275 | SLC26A2 | c.906C>A (p.Leu302=) c.372+2148C>A (n.372+2148C>A) | |
5 | g.149980499C>G | CA447402276 | SLC26A2 | c.906C>G (p.Leu302=) c.372+2148C>G (n.372+2148C>G) | |
5 | g.149980499C>T | CA447402277 | SLC26A2 | c.906C>T (p.Leu302=) c.372+2148C>T (n.372+2148C>T) | |
5 | g.149980500T>A | CA361706535 | SLC26A2 | c.907T>A (p.Cys303Ser) c.372+2149T>A (n.372+2149T>A) | |
5 | g.149980500T>C | CA361706536 | SLC26A2 | c.907T>C (p.Cys303Arg) c.372+2149T>C (n.372+2149T>C) | |
5 | g.149980500T>G | CA361706537 | SLC26A2 | c.907T>G (p.Cys303Gly) c.372+2149T>G (n.372+2149T>G) | |
5 | g.149980501G>A | CA361706540 | SLC26A2 | c.908G>A (p.Cys303Tyr) c.372+2150G>A (n.372+2150G>A) | |
5 | g.149980501G>C | CA361706538 | SLC26A2 | c.908G>C (p.Cys303Ser) c.372+2150G>C (n.372+2150G>C) | |
5 | g.149980501G>T | CA361706539 | SLC26A2 | c.908G>T (p.Cys303Phe) c.372+2150G>T (n.372+2150G>T) | |
5 | g.149980502T>A | CA361706541 | SLC26A2 | c.909T>A (p.Cys303Ter) c.372+2151T>A (n.372+2151T>A) | ClinVar dbSNP |
5 | g.149980502T>C | CA447402279 | SLC26A2 | c.909T>C (p.Cys303=) c.372+2151T>C (n.372+2151T>C) | |
5 | g.149980502T>G | CA361706542 | SLC26A2 | c.909T>G (p.Cys303Trp) c.372+2151T>G (n.372+2151T>G) | |
5 | g.149980502T= | CA1590738402 | SLC26A2 | c.909T= (p.Cys303=) c.372+2151T= (n.372+2151T=) | |
5 | g.149980503G>A | CA361706543 | SLC26A2 | c.910G>A (p.Asp304Asn) c.372+2152G>A (n.372+2152G>A) | COSMIC |
5 | g.149980503G>C | CA361706544 | SLC26A2 | c.910G>C (p.Asp304His) c.372+2152G>C (n.372+2152G>C) | |
5 | g.149980503G>T | CA361706545 | SLC26A2 | c.910G>T (p.Asp304Tyr) c.372+2152G>T (n.372+2152G>T) | |
5 | g.149980504A>C | CA361706546 | SLC26A2 | c.911A>C (p.Asp304Ala) c.372+2153A>C (n.372+2153A>C) | |
5 | g.149980504A>G | CA361706547 | SLC26A2 | c.911A>G (p.Asp304Gly) c.372+2153A>G (n.372+2153A>G) | |
5 | g.149980504A>T | CA361706548 | SLC26A2 | c.911A>T (p.Asp304Val) c.372+2153A>T (n.372+2153A>T) | |
5 | g.149980505T>A | CA361706549 | SLC26A2 | c.912T>A (p.Asp304Glu) c.372+2154T>A (n.372+2154T>A) | |
5 | g.149980505T>C | CA447402283 | SLC26A2 | c.912T>C (p.Asp304=) c.372+2154T>C (n.372+2154T>C) | |
5 | g.149980505T>G | CA361706550 | SLC26A2 | c.912T>G (p.Asp304Glu) c.372+2154T>G (n.372+2154T>G) | |
5 | g.149980506C>A | CA361706551 | SLC26A2 | c.913C>A (p.Leu305Ile) c.372+2155C>A (n.372+2155C>A) | |
5 | g.149980506C= | CA1590738403 | SLC26A2 | c.913C= (p.Leu305=) c.372+2155C= (n.372+2155C=) | |
5 | g.149980506C>G | CA361706552 | SLC26A2 | c.913C>G (p.Leu305Val) c.372+2155C>G (n.372+2155C>G) | |
5 | g.149980506C>T | CA361706553 | SLC26A2 | c.913C>T (p.Leu305Phe) c.372+2155C>T (n.372+2155C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149980507T>A | CA361706554 | SLC26A2 | c.914T>A (p.Leu305His) c.372+2156T>A (n.372+2156T>A) | |
5 | g.149980507T>C | CA361706556 | SLC26A2 | c.914T>C (p.Leu305Pro) c.372+2156T>C (n.372+2156T>C) | |
5 | g.149980507T>G | CA361706555 | SLC26A2 | c.914T>G (p.Leu305Arg) c.372+2156T>G (n.372+2156T>G) | |
5 | g.149980509_149980522dup | CA563955702 | SLC26A2 | c.916_929dup (p.Cys311SerfsTer?) c.372+2158_372+2171dup (n.372+2158_372+2171dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980508T>A | CA447402284 | SLC26A2 | c.915T>A (p.Leu305=) c.372+2157T>A (n.372+2157T>A) | |
5 | g.149980508T>C | CA447402285 | SLC26A2 | c.915T>C (p.Leu305=) c.372+2157T>C (n.372+2157T>C) | |
5 | g.149980508T>G | CA447402286 | SLC26A2 | c.915T>G (p.Leu305=) c.372+2157T>G (n.372+2157T>G) | |
5 | g.149980509A= | CA1590738404 | SLC26A2 | c.916A= (p.Ile306=) c.372+2158A= (n.372+2158A=) | |
5 | g.149980509A>C | CA361706557 | SLC26A2 | c.916A>C (p.Ile306Leu) c.372+2158A>C (n.372+2158A>C) | |
5 | g.149980509A>G | CA361706558 | SLC26A2 | c.916A>G (p.Ile306Val) c.372+2158A>G (n.372+2158A>G) | |
5 | g.149980509A>T | CA361706559 | SLC26A2 | c.916A>T (p.Ile306Phe) c.372+2158A>T (n.372+2158A>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980510T>A | CA361706560 | SLC26A2 | c.917T>A (p.Ile306Asn) c.372+2159T>A (n.372+2159T>A) | |
5 | g.149980510T>C | CA361706561 | SLC26A2 | c.917T>C (p.Ile306Thr) c.372+2159T>C (n.372+2159T>C) | dbSNP gnomAD v4 |
5 | g.149980510T>G | CA361706562 | SLC26A2 | c.917T>G (p.Ile306Ser) c.372+2159T>G (n.372+2159T>G) | |
5 | g.149980510T= | CA1590738406 | SLC26A2 | c.917T= (p.Ile306=) c.372+2159T= (n.372+2159T=) | |
5 | g.149980510_149980511delinsTC | CA1590738405 | SLC26A2 | c.917_918delinsTC (p.Ile306=) c.372+2159_372+2160delinsTC (n.372+2159_372+2160delinsTC) | |
5 | g.149980511del | CA16040992 | SLC26A2 | c.918del (p.Thr307ProfsTer?) c.372+2160del (n.372+2160del) | ClinVar dbSNP |
5 | g.149980511C>A | CA447402287 | SLC26A2 | c.918C>A (p.Ile306=) c.372+2160C>A (n.372+2160C>A) | |
5 | g.149980511C>G | CA361706563 | SLC26A2 | c.918C>G (p.Ile306Met) c.372+2160C>G (n.372+2160C>G) | |
5 | g.149980511C>T | CA447402289 | SLC26A2 | c.918C>T (p.Ile306=) c.372+2160C>T (n.372+2160C>T) | gnomAD v4 |
5 | g.149980512A>C | CA361706564 | SLC26A2 | c.919A>C (p.Thr307Pro) c.372+2161A>C (n.372+2161A>C) | |
5 | g.149980512A>G | CA361706565 | SLC26A2 | c.919A>G (p.Thr307Ala) c.372+2161A>G (n.372+2161A>G) | gnomAD v4 |
5 | g.149980512A>T | CA361706566 | SLC26A2 | c.919A>T (p.Thr307Ser) c.372+2161A>T (n.372+2161A>T) | |
5 | g.149980513C>A | CA361706567 | SLC26A2 | c.920C>A (p.Thr307Asn) c.372+2162C>A (n.372+2162C>A) | |
5 | g.149980513C>G | CA361706568 | SLC26A2 | c.920C>G (p.Thr307Ser) c.372+2162C>G (n.372+2162C>G) | |
5 | g.149980513C>T | CA361706569 | SLC26A2 | c.920C>T (p.Thr307Ile) c.372+2162C>T (n.372+2162C>T) | |
5 | g.149980514C>A | CA447402293 | SLC26A2 | c.921C>A (p.Thr307=) c.372+2163C>A (n.372+2163C>A) | |
5 | g.149980514C>G | CA447402292 | SLC26A2 | c.921C>G (p.Thr307=) c.372+2163C>G (n.372+2163C>G) | |
5 | g.149980514C>T | CA447402291 | SLC26A2 | c.921C>T (p.Thr307=) c.372+2163C>T (n.372+2163C>T) | |
5 | g.149980514_149980515delinsCA | CA1590738407 | SLC26A2 | c.921_922delinsCA (p.Thr307=) c.372+2163_372+2164delinsCA (n.372+2163_372+2164delinsCA) | |
5 | g.149980515del | CA16040993 | SLC26A2 | c.922del (p.Ser308AlafsTer?) c.372+2164del (n.372+2164del) | ClinVar dbSNP |
5 | g.149980515A>C | CA361706570 | SLC26A2 | c.922A>C (p.Ser308Arg) c.372+2164A>C (n.372+2164A>C) | COSMIC |
5 | g.149980515A>G | CA361706572 | SLC26A2 | c.922A>G (p.Ser308Gly) c.372+2164A>G (n.372+2164A>G) | |
5 | g.149980515A>T | CA361706571 | SLC26A2 | c.922A>T (p.Ser308Cys) c.372+2164A>T (n.372+2164A>T) | |
5 | g.149980516G>A | CA361706573 | SLC26A2 | c.923G>A (p.Ser308Asn) c.372+2165G>A (n.372+2165G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980516G>C | CA361706574 | SLC26A2 | c.923G>C (p.Ser308Thr) c.372+2165G>C (n.372+2165G>C) | |
5 | g.149980516G= | CA1590738409 | SLC26A2 | c.923G= (p.Ser308=) c.372+2165G= (n.372+2165G=) | |
5 | g.149980516G>T | CA361706575 | SLC26A2 | c.923G>T (p.Ser308Ile) c.372+2165G>T (n.372+2165G>T) | |
5 | g.149980516_149980517del | CA913108447 | SLC26A2 | c.923_924del (p.Ser308ThrfsTer15) c.372+2165_372+2166del (n.372+2165_372+2166del) | |
5 | g.149980516_149980517delinsGC | CA1590738408 | SLC26A2 | c.923_924delinsGC (p.Ser308=) c.372+2165_372+2166delinsGC (n.372+2165_372+2166delinsGC) | |
5 | g.149980517C>A | CA3505354 | SLC26A2 | c.924C>A (p.Ser308Arg) c.372+2166C>A (n.372+2166C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980517C= | CA1590738410 | SLC26A2 | c.924C= (p.Ser308=) c.372+2166C= (n.372+2166C=) | |
5 | g.149980517C>G | CA361706576 | SLC26A2 | c.924C>G (p.Ser308Arg) c.372+2166C>G (n.372+2166C>G) | ClinVar dbSNP gnomAD v4 |
5 | g.149980517C>T | CA447402295 | SLC26A2 | c.924C>T (p.Ser308=) c.372+2166C>T (n.372+2166C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149980518del | CA658822217 | SLC26A2 | c.925del (p.Leu309PhefsTer?) c.372+2167del (n.372+2167del) | ClinVar dbSNP |
5 | g.149980518C>A | CA361706577 | SLC26A2 | c.925C>A (p.Leu309Ile) c.372+2167C>A (n.372+2167C>A) | |
5 | g.149980518C= | CA1590738411 | SLC26A2 | c.925C= (p.Leu309=) c.372+2167C= (n.372+2167C=) | |
5 | g.149980518C>G | CA361706578 | SLC26A2 | c.925C>G (p.Leu309Val) c.372+2167C>G (n.372+2167C>G) | |
5 | g.149980518C>T | CA129083951 | SLC26A2 | c.925C>T (p.Leu309Phe) c.372+2167C>T (n.372+2167C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980519T>A | CA361706579 | SLC26A2 | c.926T>A (p.Leu309His) c.372+2168T>A (n.372+2168T>A) | |
5 | g.149980519T>C | CA361706580 | SLC26A2 | c.926T>C (p.Leu309Pro) c.372+2168T>C (n.372+2168T>C) | gnomAD v4 |
5 | g.149980519T>G | CA361706581 | SLC26A2 | c.926T>G (p.Leu309Arg) c.372+2168T>G (n.372+2168T>G) | |
5 | g.149980520T>A | CA447402297 | SLC26A2 | c.927T>A (p.Leu309=) c.372+2169T>A (n.372+2169T>A) | |
5 | g.149980520T>C | CA447402298 | SLC26A2 | c.927T>C (p.Leu309=) c.372+2169T>C (n.372+2169T>C) | |
5 | g.149980520T>G | CA447402299 | SLC26A2 | c.927T>G (p.Leu309=) c.372+2169T>G (n.372+2169T>G) | |
5 | g.149980521T>A | CA361706583 | SLC26A2 | c.928T>A (p.Leu310Met) c.372+2170T>A (n.372+2170T>A) | |
5 | g.149980521T>C | CA447402300 | SLC26A2 | c.928T>C (p.Leu310=) c.372+2170T>C (n.372+2170T>C) | |
5 | g.149980521T>G | CA361706582 | SLC26A2 | c.928T>G (p.Leu310Val) c.372+2170T>G (n.372+2170T>G) | |
5 | g.149980522T>A | CA361706584 | SLC26A2 | c.929T>A (p.Leu310Ter) c.372+2171T>A (n.372+2171T>A) | |
5 | g.149980522T>C | CA361706586 | SLC26A2 | c.929T>C (p.Leu310Ser) c.372+2171T>C (n.372+2171T>C) | |
5 | g.149980522T>G | CA361706585 | SLC26A2 | c.929T>G (p.Leu310Trp) c.372+2171T>G (n.372+2171T>G) | |
5 | g.149980523G>A | CA447402304 | SLC26A2 | c.930G>A (p.Leu310=) c.372+2172G>A (n.372+2172G>A) | gnomAD v4 |
5 | g.149980523G>C | CA361706587 | SLC26A2 | c.930G>C (p.Leu310Phe) c.372+2172G>C (n.372+2172G>C) | |
5 | g.149980523G>T | CA361706588 | SLC26A2 | c.930G>T (p.Leu310Phe) c.372+2172G>T (n.372+2172G>T) | |
5 | g.149980524T>A | CA361706589 | SLC26A2 | c.931T>A (p.Cys311Ser) c.372+2173T>A (n.372+2173T>A) | |
5 | g.149980524T>C | CA3505355 | SLC26A2 | c.931T>C (p.Cys311Arg) c.372+2173T>C (n.372+2173T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980524T>G | CA361706590 | SLC26A2 | c.931T>G (p.Cys311Gly) c.372+2173T>G (n.372+2173T>G) | dbSNP |
5 | g.149980524T= | CA1590738412 | SLC26A2 | c.931T= (p.Cys311=) c.372+2173T= (n.372+2173T=) | |
5 | g.149980525G>A | CA361706591 | SLC26A2 | c.932G>A (p.Cys311Tyr) c.372+2174G>A (n.372+2174G>A) | gnomAD v4 |
5 | g.149980525G>C | CA361706592 | SLC26A2 | c.932G>C (p.Cys311Ser) c.372+2174G>C (n.372+2174G>C) | |
5 | g.149980525G>T | CA361706593 | SLC26A2 | c.932G>T (p.Cys311Phe) c.372+2174G>T (n.372+2174G>T) | |
5 | g.149980526C>A | CA361706594 | SLC26A2 | c.933C>A (p.Cys311Ter) c.372+2175C>A (n.372+2175C>A) | |
5 | g.149980526C= | CA1590738413 | SLC26A2 | c.933C= (p.Cys311=) c.372+2175C= (n.372+2175C=) | |
5 | g.149980526C>G | CA361706595 | SLC26A2 | c.933C>G (p.Cys311Trp) c.372+2175C>G (n.372+2175C>G) | |
5 | g.149980526C>T | CA3505356 | SLC26A2 | c.933C>T (p.Cys311=) c.372+2175C>T (n.372+2175C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980527C>A | CA361706598 | SLC26A2 | c.934C>A (p.Leu312Ile) c.372+2176C>A (n.372+2176C>A) | |
5 | g.149980527C>G | CA361706596 | SLC26A2 | c.934C>G (p.Leu312Val) c.372+2176C>G (n.372+2176C>G) | |
5 | g.149980527C>T | CA361706597 | SLC26A2 | c.934C>T (p.Leu312Phe) c.372+2176C>T (n.372+2176C>T) | gnomAD v4 |
5 | g.149980528T>A | CA361706599 | SLC26A2 | c.935T>A (p.Leu312His) c.372+2177T>A (n.372+2177T>A) | |
5 | g.149980528T>C | CA361706600 | SLC26A2 | c.935T>C (p.Leu312Pro) c.372+2177T>C (n.372+2177T>C) | |
5 | g.149980528T>G | CA361706601 | SLC26A2 | c.935T>G (p.Leu312Arg) c.372+2177T>G (n.372+2177T>G) | |
5 | g.149980529T>A | CA447402308 | SLC26A2 | c.936T>A (p.Leu312=) c.372+2178T>A (n.372+2178T>A) | |
5 | g.149980529T>C | CA447402309 | SLC26A2 | c.936T>C (p.Leu312=) c.372+2178T>C (n.372+2178T>C) | |
5 | g.149980529T>G | CA447402310 | SLC26A2 | c.936T>G (p.Leu312=) c.372+2178T>G (n.372+2178T>G) | |
5 | g.149980530T>A | CA361706602 | SLC26A2 | c.937T>A (p.Leu313Met) c.372+2179T>A (n.372+2179T>A) | |
5 | g.149980530T>C | CA447402311 | SLC26A2 | c.937T>C (p.Leu313=) c.372+2179T>C (n.372+2179T>C) | |
5 | g.149980530T>G | CA361706603 | SLC26A2 | c.937T>G (p.Leu313Val) c.372+2179T>G (n.372+2179T>G) | |
5 | g.149980531T>A | CA361706604 | SLC26A2 | c.938T>A (p.Leu313Ter) c.372+2180T>A (n.372+2180T>A) | |
5 | g.149980531T>C | CA361706606 | SLC26A2 | c.938T>C (p.Leu313Ser) c.372+2180T>C (n.372+2180T>C) | |
5 | g.149980531T>G | CA361706605 | SLC26A2 | c.938T>G (p.Leu313Trp) c.372+2180T>G (n.372+2180T>G) | |
5 | g.149980532G>A | CA447402314 | SLC26A2 | c.939G>A (p.Leu313=) c.372+2181G>A (n.372+2181G>A) | gnomAD v4 |
5 | g.149980532G>C | CA361706607 | SLC26A2 | c.939G>C (p.Leu313Phe) c.372+2181G>C (n.372+2181G>C) | |
5 | g.149980532G= | CA1590738414 | SLC26A2 | c.939G= (p.Leu313=) c.372+2181G= (n.372+2181G=) | |
5 | g.149980532G>T | CA361706608 | SLC26A2 | c.939G>T (p.Leu313Phe) c.372+2181G>T (n.372+2181G>T) | dbSNP |
5 | g.149980533G>A | CA3505357 | SLC26A2 | c.940G>A (p.Val314Ile) c.372+2182G>A (n.372+2182G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980533G>C | CA361706609 | SLC26A2 | c.940G>C (p.Val314Leu) c.372+2182G>C (n.372+2182G>C) | |
5 | g.149980533G= | CA1590738415 | SLC26A2 | c.940G= (p.Val314=) c.372+2182G= (n.372+2182G=) | |
5 | g.149980533G>T | CA361706610 | SLC26A2 | c.940G>T (p.Val314Phe) c.372+2182G>T (n.372+2182G>T) | |
5 | g.149980534T>A | CA361706611 | SLC26A2 | c.941T>A (p.Val314Asp) c.372+2183T>A (n.372+2183T>A) | |
5 | g.149980534T>C | CA361706612 | SLC26A2 | c.941T>C (p.Val314Ala) c.372+2183T>C (n.372+2183T>C) | |
5 | g.149980534T>G | CA361706613 | SLC26A2 | c.941T>G (p.Val314Gly) c.372+2183T>G (n.372+2183T>G) | |
5 | g.149980535T>A | CA447402321 | SLC26A2 | c.942T>A (p.Val314=) c.372+2184T>A (n.372+2184T>A) | |
5 | g.149980535T>C | CA447402320 | SLC26A2 | c.942T>C (p.Val314=) c.372+2184T>C (n.372+2184T>C) | |
5 | g.149980535T>G | CA447402319 | SLC26A2 | c.942T>G (p.Val314=) c.372+2184T>G (n.372+2184T>G) | |
5 | g.149980536C>A | CA3505358 | SLC26A2 | c.943C>A (p.Leu315Ile) c.372+2185C>A (n.372+2185C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980536C= | CA1590738416 | SLC26A2 | c.943C= (p.Leu315=) c.372+2185C= (n.372+2185C=) | |
5 | g.149980536C>G | CA361706614 | SLC26A2 | c.943C>G (p.Leu315Val) c.372+2185C>G (n.372+2185C>G) | |
5 | g.149980536C>T | CA361706615 | SLC26A2 | c.943C>T (p.Leu315Phe) c.372+2185C>T (n.372+2185C>T) | |
5 | g.149980537T>A | CA361706616 | SLC26A2 | c.944T>A (p.Leu315His) c.372+2186T>A (n.372+2186T>A) | |
5 | g.149980537T>C | CA3505359 | SLC26A2 | c.944T>C (p.Leu315Pro) c.372+2186T>C (n.372+2186T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980537T>G | CA361706617 | SLC26A2 | c.944T>G (p.Leu315Arg) c.372+2186T>G (n.372+2186T>G) | gnomAD v4 |
5 | g.149980537T= | CA1590738417 | SLC26A2 | c.944T= (p.Leu315=) c.372+2186T= (n.372+2186T=) | |
5 | g.149980540del | CA2675943642 | SLC26A2 | c.947del (p.Leu316CysfsTer26) c.372+2189del (n.372+2189del) | gnomAD v4 |
5 | g.149980538T>A | CA447402325 | SLC26A2 | c.945T>A (p.Leu315=) c.372+2187T>A (n.372+2187T>A) | |
5 | g.149980538T>C | CA447402324 | SLC26A2 | c.945T>C (p.Leu315=) c.372+2187T>C (n.372+2187T>C) | |
5 | g.149980538T>G | CA447402323 | SLC26A2 | c.945T>G (p.Leu315=) c.372+2187T>G (n.372+2187T>G) | |
5 | g.149980539T>A | CA361706618 | SLC26A2 | c.946T>A (p.Leu316Met) c.372+2188T>A (n.372+2188T>A) | |
5 | g.149980539T>C | CA447402326 | SLC26A2 | c.946T>C (p.Leu316=) c.372+2188T>C (n.372+2188T>C) | |
5 | g.149980539T>G | CA361706619 | SLC26A2 | c.946T>G (p.Leu316Val) c.372+2188T>G (n.372+2188T>G) | |
5 | g.149980540T>A | CA361706620 | SLC26A2 | c.947T>A (p.Leu316Ter) c.372+2189T>A (n.372+2189T>A) | |
5 | g.149980540T>C | CA361706621 | SLC26A2 | c.947T>C (p.Leu316Ser) c.372+2189T>C (n.372+2189T>C) | gnomAD v4 |
5 | g.149980540T>G | CA361706622 | SLC26A2 | c.947T>G (p.Leu316Trp) c.372+2189T>G (n.372+2189T>G) | |
5 | g.149980541G>A | CA447402329 | SLC26A2 | c.948G>A (p.Leu316=) c.372+2190G>A (n.372+2190G>A) | |
5 | g.149980541G>C | CA361706623 | SLC26A2 | c.948G>C (p.Leu316Phe) c.372+2190G>C (n.372+2190G>C) | dbSNP |
5 | g.149980541G>T | CA361706624 | SLC26A2 | c.948G>T (p.Leu316Phe) c.372+2190G>T (n.372+2190G>T) | |
5 | g.149980542C>A | CA129083988 | SLC26A2 | c.949C>A (p.Pro317Thr) c.372+2191C>A (n.372+2191C>A) | dbSNP |
5 | g.149980542C= | CA1590738418 | SLC26A2 | c.949C= (p.Pro317=) c.372+2191C= (n.372+2191C=) | |
5 | g.149980542C>G | CA361706625 | SLC26A2 | c.949C>G (p.Pro317Ala) c.372+2191C>G (n.372+2191C>G) | |
5 | g.149980542C>T | CA361706626 | SLC26A2 | c.949C>T (p.Pro317Ser) c.372+2191C>T (n.372+2191C>T) | |
5 | g.149980543C>A | CA361706629 | SLC26A2 | c.950C>A (p.Pro317Gln) c.372+2192C>A (n.372+2192C>A) | |
5 | g.149980543C= | CA1590738419 | SLC26A2 | c.950C= (p.Pro317=) c.372+2192C= (n.372+2192C=) | |
5 | g.149980543C>G | CA361706628 | SLC26A2 | c.950C>G (p.Pro317Arg) c.372+2192C>G (n.372+2192C>G) | |
5 | g.149980543C>T | CA361706627 | SLC26A2 | c.950C>T (p.Pro317Leu) c.372+2192C>T (n.372+2192C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980544A>C | CA447402332 | SLC26A2 | c.951A>C (p.Pro317=) c.372+2193A>C (n.372+2193A>C) | |
5 | g.149980544A>G | CA447402334 | SLC26A2 | c.951A>G (p.Pro317=) c.372+2193A>G (n.372+2193A>G) | ClinVar |
5 | g.149980544A>T | CA447402335 | SLC26A2 | c.951A>T (p.Pro317=) c.372+2193A>T (n.372+2193A>T) | |
5 | g.149980545A>C | CA361706630 | SLC26A2 | c.952A>C (p.Thr318Pro) c.372+2194A>C (n.372+2194A>C) | |
5 | g.149980545A>G | CA361706631 | SLC26A2 | c.952A>G (p.Thr318Ala) c.372+2194A>G (n.372+2194A>G) | |
5 | g.149980545A>T | CA361706632 | SLC26A2 | c.952A>T (p.Thr318Ser) c.372+2194A>T (n.372+2194A>T) | |
5 | g.149980546C>A | CA361706633 | SLC26A2 | c.953C>A (p.Thr318Asn) c.372+2195C>A (n.372+2195C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980546C= | CA1590738420 | SLC26A2 | c.953C= (p.Thr318=) c.372+2195C= (n.372+2195C=) | |
5 | g.149980546C>G | CA361706634 | SLC26A2 | c.953C>G (p.Thr318Ser) c.372+2195C>G (n.372+2195C>G) | |
5 | g.149980546C>T | CA361706635 | SLC26A2 | c.953C>T (p.Thr318Ile) c.372+2195C>T (n.372+2195C>T) | ClinVar gnomAD v4 |
5 | g.149980547C>A | CA447402336 | SLC26A2 | c.954C>A (p.Thr318=) c.372+2196C>A (n.372+2196C>A) | |
5 | g.149980547C>G | CA447402338 | SLC26A2 | c.954C>G (p.Thr318=) c.372+2196C>G (n.372+2196C>G) | |
5 | g.149980547C>T | CA447402340 | SLC26A2 | c.954C>T (p.Thr318=) c.372+2196C>T (n.372+2196C>T) | |
5 | g.149980548A= | CA1590738421 | SLC26A2 | c.955A= (p.Lys319=) c.372+2197A= (n.372+2197A=) | |
5 | g.149980548A>C | CA361706636 | SLC26A2 | c.955A>C (p.Lys319Gln) c.372+2197A>C (n.372+2197A>C) | |
5 | g.149980548A>G | CA361706637 | SLC26A2 | c.955A>G (p.Lys319Glu) c.372+2197A>G (n.372+2197A>G) | dbSNP |
5 | g.149980548A>T | CA361706638 | SLC26A2 | c.955A>T (p.Lys319Ter) c.372+2197A>T (n.372+2197A>T) | |
5 | g.149980549A= | CA1590738422 | SLC26A2 | c.956A= (p.Lys319=) c.372+2198A= (n.372+2198A=) | |
5 | g.149980549A>C | CA361706639 | SLC26A2 | c.956A>C (p.Lys319Thr) c.372+2198A>C (n.372+2198A>C) | |
5 | g.149980549A>G | CA3505360 | SLC26A2 | c.956A>G (p.Lys319Arg) c.372+2198A>G (n.372+2198A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980549A>T | CA361706640 | SLC26A2 | c.956A>T (p.Lys319Ile) c.372+2198A>T (n.372+2198A>T) | |
5 | g.149980550A>C | CA361706642 | SLC26A2 | c.957A>C (p.Lys319Asn) c.372+2199A>C (n.372+2199A>C) | |
5 | g.149980550A>G | CA447402342 | SLC26A2 | c.957A>G (p.Lys319=) c.372+2199A>G (n.372+2199A>G) | |
5 | g.149980550A>T | CA361706641 | SLC26A2 | c.957A>T (p.Lys319Asn) c.372+2199A>T (n.372+2199A>T) | |
5 | g.149980551G>A | CA361706643 | SLC26A2 | c.958G>A (p.Glu320Lys) c.372+2200G>A (n.372+2200G>A) | |
5 | g.149980551G>C | CA361706644 | SLC26A2 | c.958G>C (p.Glu320Gln) c.372+2200G>C (n.372+2200G>C) | |
5 | g.149980551G>T | CA361706645 | SLC26A2 | c.958G>T (p.Glu320Ter) c.372+2200G>T (n.372+2200G>T) | COSMIC |
5 | g.149980552A>C | CA361706646 | SLC26A2 | c.959A>C (p.Glu320Ala) c.372+2201A>C (n.372+2201A>C) | |
5 | g.149980552A>G | CA361706647 | SLC26A2 | c.959A>G (p.Glu320Gly) c.372+2201A>G (n.372+2201A>G) | |
5 | g.149980552A>T | CA361706648 | SLC26A2 | c.959A>T (p.Glu320Val) c.372+2201A>T (n.372+2201A>T) | |
5 | g.149980553A>C | CA361706650 | SLC26A2 | c.960A>C (p.Glu320Asp) c.372+2202A>C (n.372+2202A>C) | |
5 | g.149980553A>G | CA447402345 | SLC26A2 | c.960A>G (p.Glu320=) c.372+2202A>G (n.372+2202A>G) | |
5 | g.149980553A>T | CA361706649 | SLC26A2 | c.960A>T (p.Glu320Asp) c.372+2202A>T (n.372+2202A>T) | gnomAD v4 |
5 | g.149980554del | CA2740094146 | SLC26A2 | c.961del (p.Leu321SerfsTer21) c.372+2203del (n.372+2203del) | ClinVar |
5 | g.149980554C>A | CA361706651 | SLC26A2 | c.961C>A (p.Leu321Ile) c.372+2203C>A (n.372+2203C>A) | |
5 | g.149980554C>G | CA361706652 | SLC26A2 | c.961C>G (p.Leu321Val) c.372+2203C>G (n.372+2203C>G) | |
5 | g.149980554C>T | CA361706653 | SLC26A2 | c.961C>T (p.Leu321Phe) c.372+2203C>T (n.372+2203C>T) | |
5 | g.149980555T>A | CA361706654 | SLC26A2 | c.962T>A (p.Leu321His) c.372+2204T>A (n.372+2204T>A) | |
5 | g.149980555T>C | CA361706655 | SLC26A2 | c.962T>C (p.Leu321Pro) c.372+2204T>C (n.372+2204T>C) | gnomAD v4 |
5 | g.149980555T>G | CA361706656 | SLC26A2 | c.962T>G (p.Leu321Arg) c.372+2204T>G (n.372+2204T>G) | gnomAD v4 |
5 | g.149980556C>A | CA447402347 | SLC26A2 | c.963C>A (p.Leu321=) c.372+2205C>A (n.372+2205C>A) | |
5 | g.149980556C>G | CA447402348 | SLC26A2 | c.963C>G (p.Leu321=) c.372+2205C>G (n.372+2205C>G) | |
5 | g.149980556C>T | CA447402349 | SLC26A2 | c.963C>T (p.Leu321=) c.372+2205C>T (n.372+2205C>T) | ClinVar |
5 | g.149980557A>C | CA361706659 | SLC26A2 | c.964A>C (p.Asn322His) c.372+2206A>C (n.372+2206A>C) | |
5 | g.149980557A>G | CA361706657 | SLC26A2 | c.964A>G (p.Asn322Asp) c.372+2206A>G (n.372+2206A>G) | |
5 | g.149980557A>T | CA361706658 | SLC26A2 | c.964A>T (p.Asn322Tyr) c.372+2206A>T (n.372+2206A>T) | |
5 | g.149980558A>C | CA361706660 | SLC26A2 | c.965A>C (p.Asn322Thr) c.372+2207A>C (n.372+2207A>C) | |
5 | g.149980558A>G | CA361706661 | SLC26A2 | c.965A>G (p.Asn322Ser) c.372+2207A>G (n.372+2207A>G) | ClinVar dbSNP gnomAD v4 |
5 | g.149980558A>T | CA361706662 | SLC26A2 | c.965A>T (p.Asn322Ile) c.372+2207A>T (n.372+2207A>T) | |
5 | g.149980559T>A | CA361706663 | SLC26A2 | c.966T>A (p.Asn322Lys) c.372+2208T>A (n.372+2208T>A) | |
5 | g.149980559T>C | CA447402350 | SLC26A2 | c.966T>C (p.Asn322=) c.372+2208T>C (n.372+2208T>C) | |
5 | g.149980559T>G | CA361706664 | SLC26A2 | c.966T>G (p.Asn322Lys) c.372+2208T>G (n.372+2208T>G) | |
5 | g.149980560G>A | CA361706665 | SLC26A2 | c.967G>A (p.Glu323Lys) c.372+2209G>A (n.372+2209G>A) | |
5 | g.149980560G>C | CA361706666 | SLC26A2 | c.967G>C (p.Glu323Gln) c.372+2209G>C (n.372+2209G>C) | |
5 | g.149980560G>T | CA361706667 | SLC26A2 | c.967G>T (p.Glu323Ter) c.372+2209G>T (n.372+2209G>T) | COSMIC |
5 | g.149980561A>C | CA361706668 | SLC26A2 | c.968A>C (p.Glu323Ala) c.372+2210A>C (n.372+2210A>C) | |
5 | g.149980561A>G | CA361706669 | SLC26A2 | c.968A>G (p.Glu323Gly) c.372+2210A>G (n.372+2210A>G) | |
5 | g.149980561A>T | CA361706670 | SLC26A2 | c.968A>T (p.Glu323Val) c.372+2210A>T (n.372+2210A>T) | |
5 | g.149980562A>C | CA361706671 | SLC26A2 | c.969A>C (p.Glu323Asp) c.372+2211A>C (n.372+2211A>C) | |
5 | g.149980562A>G | CA447402354 | SLC26A2 | c.969A>G (p.Glu323=) c.372+2211A>G (n.372+2211A>G) | |
5 | g.149980562A>T | CA361706672 | SLC26A2 | c.969A>T (p.Glu323Asp) c.372+2211A>T (n.372+2211A>T) | gnomAD v4 |
5 | g.149980563C>A | CA361706673 | SLC26A2 | c.970C>A (p.His324Asn) c.372+2212C>A (n.372+2212C>A) | |
5 | g.149980563C= | CA1590738423 | SLC26A2 | c.970C= (p.His324=) c.372+2212C= (n.372+2212C=) | |
5 | g.149980563C>G | CA361706675 | SLC26A2 | c.970C>G (p.His324Asp) c.372+2212C>G (n.372+2212C>G) | |
5 | g.149980563C>T | CA361706674 | SLC26A2 | c.970C>T (p.His324Tyr) c.372+2212C>T (n.372+2212C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980564A>C | CA361706676 | SLC26A2 | c.971A>C (p.His324Pro) c.372+2213A>C (n.372+2213A>C) | |
5 | g.149980564A>G | CA361706677 | SLC26A2 | c.971A>G (p.His324Arg) c.372+2213A>G (n.372+2213A>G) | |
5 | g.149980564A>T | CA361706678 | SLC26A2 | c.971A>T (p.His324Leu) c.372+2213A>T (n.372+2213A>T) | |
5 | g.149980565C>A | CA361706679 | SLC26A2 | c.972C>A (p.His324Gln) c.372+2214C>A (n.372+2214C>A) | dbSNP gnomAD v4 |
5 | g.149980565C= | CA1590738424 | SLC26A2 | c.972C= (p.His324=) c.372+2214C= (n.372+2214C=) | |
5 | g.149980565C>G | CA361706680 | SLC26A2 | c.972C>G (p.His324Gln) c.372+2214C>G (n.372+2214C>G) | |
5 | g.149980565C>T | CA447402358 | SLC26A2 | c.972C>T (p.His324=) c.372+2214C>T (n.372+2214C>T) | dbSNP |
5 | g.149980566T>A | CA361706681 | SLC26A2 | c.973T>A (p.Phe325Ile) c.372+2215T>A (n.372+2215T>A) | |
5 | g.149980566T>C | CA361706682 | SLC26A2 | c.973T>C (p.Phe325Leu) c.372+2215T>C (n.372+2215T>C) | |
5 | g.149980566T>G | CA361706683 | SLC26A2 | c.973T>G (p.Phe325Val) c.372+2215T>G (n.372+2215T>G) | |
5 | g.149980567T>A | CA361706684 | SLC26A2 | c.974T>A (p.Phe325Tyr) c.372+2216T>A (n.372+2216T>A) | |
5 | g.149980567T>C | CA361706685 | SLC26A2 | c.974T>C (p.Phe325Ser) c.372+2216T>C (n.372+2216T>C) | |
5 | g.149980567T>G | CA361706686 | SLC26A2 | c.974T>G (p.Phe325Cys) c.372+2216T>G (n.372+2216T>G) | |
5 | g.149980568C>A | CA361706687 | SLC26A2 | c.975C>A (p.Phe325Leu) c.372+2217C>A (n.372+2217C>A) | gnomAD v4 |
5 | g.149980568C>G | CA361706688 | SLC26A2 | c.975C>G (p.Phe325Leu) c.372+2217C>G (n.372+2217C>G) | |
5 | g.149980568C>T | CA447402360 | SLC26A2 | c.975C>T (p.Phe325=) c.372+2217C>T (n.372+2217C>T) | |
5 | g.149980569A>C | CA361706689 | SLC26A2 | c.976A>C (p.Lys326Gln) c.372+2218A>C (n.372+2218A>C) | |
5 | g.149980569A>G | CA361706691 | SLC26A2 | c.976A>G (p.Lys326Glu) c.372+2218A>G (n.372+2218A>G) | |
5 | g.149980569A>T | CA361706690 | SLC26A2 | c.976A>T (p.Lys326Ter) c.372+2218A>T (n.372+2218A>T) | |
5 | g.149980570A>C | CA361706692 | SLC26A2 | c.977A>C (p.Lys326Thr) c.372+2219A>C (n.372+2219A>C) | |
5 | g.149980570A>G | CA361706693 | SLC26A2 | c.977A>G (p.Lys326Arg) c.372+2219A>G (n.372+2219A>G) | |
5 | g.149980570A>T | CA361706694 | SLC26A2 | c.977A>T (p.Lys326Ile) c.372+2219A>T (n.372+2219A>T) | |
5 | g.149980571A= | CA1590738425 | SLC26A2 | c.978A= (p.Lys326=) c.372+2220A= (n.372+2220A=) | |
5 | g.149980571A>C | CA361706695 | SLC26A2 | c.978A>C (p.Lys326Asn) c.372+2220A>C (n.372+2220A>C) | |
5 | g.149980571A>G | CA447402364 | SLC26A2 | c.978A>G (p.Lys326=) c.372+2220A>G (n.372+2220A>G) | |
5 | g.149980571A>T | CA361706696 | SLC26A2 | c.978A>T (p.Lys326Asn) c.372+2220A>T (n.372+2220A>T) | dbSNP |
5 | g.149980572T>A | CA361706697 | SLC26A2 | c.979T>A (p.Ser327Thr) c.372+2221T>A (n.372+2221T>A) | |
5 | g.149980572T>C | CA361706698 | SLC26A2 | c.979T>C (p.Ser327Pro) c.372+2221T>C (n.372+2221T>C) | |
5 | g.149980572T>G | CA361706699 | SLC26A2 | c.979T>G (p.Ser327Ala) c.372+2221T>G (n.372+2221T>G) | |
5 | g.149980573C>A | CA361706700 | SLC26A2 | c.980C>A (p.Ser327Tyr) c.372+2222C>A (n.372+2222C>A) | |
5 | g.149980573C= | CA1590738426 | SLC26A2 | c.980C= (p.Ser327=) c.372+2222C= (n.372+2222C=) | |
5 | g.149980573C>G | CA361706701 | SLC26A2 | c.980C>G (p.Ser327Cys) c.372+2222C>G (n.372+2222C>G) | |
5 | g.149980573C>T | CA129083993 | SLC26A2 | c.980C>T (p.Ser327Phe) c.372+2222C>T (n.372+2222C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149980574C>A | CA447402368 | SLC26A2 | c.981C>A (p.Ser327=) c.372+2223C>A (n.372+2223C>A) | |
5 | g.149980574C>G | CA447402369 | SLC26A2 | c.981C>G (p.Ser327=) c.372+2223C>G (n.372+2223C>G) | |
5 | g.149980574C>T | CA447402370 | SLC26A2 | c.981C>T (p.Ser327=) c.372+2223C>T (n.372+2223C>T) | |
5 | g.149980575A= | CA1590738427 | SLC26A2 | c.982A= (p.Lys328=) c.372+2224A= (n.372+2224A=) | |
5 | g.149980575A>C | CA361706703 | SLC26A2 | c.982A>C (p.Lys328Gln) c.372+2224A>C (n.372+2224A>C) | |
5 | g.149980575A>G | CA3505361 | SLC26A2 | c.982A>G (p.Lys328Glu) c.372+2224A>G (n.372+2224A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980575A>T | CA361706702 | SLC26A2 | c.982A>T (p.Lys328Ter) c.372+2224A>T (n.372+2224A>T) | |
5 | g.149980576A>C | CA361706706 | SLC26A2 | c.983A>C (p.Lys328Thr) c.372+2225A>C (n.372+2225A>C) | |
5 | g.149980576A>G | CA361706704 | SLC26A2 | c.983A>G (p.Lys328Arg) c.372+2225A>G (n.372+2225A>G) | gnomAD v4 |
5 | g.149980576A>T | CA361706705 | SLC26A2 | c.983A>T (p.Lys328Met) c.372+2225A>T (n.372+2225A>T) | |
5 | g.149980577G>A | CA447402372 | SLC26A2 | c.984G>A (p.Lys328=) c.372+2226G>A (n.372+2226G>A) | ClinVar dbSNP |
5 | g.149980577G>C | CA361706707 | SLC26A2 | c.984G>C (p.Lys328Asn) c.372+2226G>C (n.372+2226G>C) | |
5 | g.149980577G= | CA1590738428 | SLC26A2 | c.984G= (p.Lys328=) c.372+2226G= (n.372+2226G=) | |
5 | g.149980577G>T | CA361706708 | SLC26A2 | c.984G>T (p.Lys328Asn) c.372+2226G>T (n.372+2226G>T) | |
5 | g.149980578C>A | CA361706709 | SLC26A2 | c.985C>A (p.Leu329Ile) c.372+2227C>A (n.372+2227C>A) | gnomAD v4 |
5 | g.149980578C>G | CA361706710 | SLC26A2 | c.985C>G (p.Leu329Val) c.372+2227C>G (n.372+2227C>G) | |
5 | g.149980578C>T | CA361706711 | SLC26A2 | c.985C>T (p.Leu329Phe) c.372+2227C>T (n.372+2227C>T) | |
5 | g.149980579T>A | CA361706714 | SLC26A2 | c.986T>A (p.Leu329His) c.372+2228T>A (n.372+2228T>A) | |
5 | g.149980579T>C | CA361706712 | SLC26A2 | c.986T>C (p.Leu329Pro) c.372+2228T>C (n.372+2228T>C) | |
5 | g.149980579T>G | CA361706713 | SLC26A2 | c.986T>G (p.Leu329Arg) c.372+2228T>G (n.372+2228T>G) |