Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
5 | g.149978325G>A | CA361705494 | SLC26A2 | n.905G>A c.673G>A (p.Val225Ile) c.346G>A (p.Val116Ile) | dbSNP |
5 | g.149978325G>C | CA361705495 | SLC26A2 | n.905G>C c.673G>C (p.Val225Leu) c.346G>C (p.Val116Leu) | |
5 | g.149978325G= | CA1590737499 | SLC26A2 | n.905G= c.673G= (p.Val225=) c.346G= (p.Val116=) | |
5 | g.149978325G>T | CA361705493 | SLC26A2 | n.905G>T c.673G>T (p.Val225Leu) c.346G>T (p.Val116Leu) | |
5 | g.149978326T>A | CA361705498 | SLC26A2 | n.906T>A c.674T>A (p.Val225Glu) c.347T>A (p.Val116Glu) | |
5 | g.149978326T>C | CA361705496 | SLC26A2 | n.906T>C c.674T>C (p.Val225Ala) c.347T>C (p.Val116Ala) | |
5 | g.149978326T>G | CA361705497 | SLC26A2 | n.906T>G c.674T>G (p.Val225Gly) c.347T>G (p.Val116Gly) | |
5 | g.149978327A>C | CA447402606 | SLC26A2 | n.907A>C c.675A>C (p.Val225=) c.348A>C (p.Val116=) | |
5 | g.149978327A>G | CA447402607 | SLC26A2 | n.907A>G c.675A>G (p.Val225=) c.348A>G (p.Val116=) | |
5 | g.149978327A>T | CA447402608 | SLC26A2 | n.907A>T c.675A>T (p.Val225=) c.348A>T (p.Val116=) | |
5 | g.149978328A>C | CA361705499 | SLC26A2 | n.908A>C c.676A>C (p.Thr226Pro) c.349A>C (p.Thr117Pro) | |
5 | g.149978328A>G | CA361705500 | SLC26A2 | n.908A>G c.676A>G (p.Thr226Ala) c.349A>G (p.Thr117Ala) | |
5 | g.149978328A>T | CA361705501 | SLC26A2 | n.908A>T c.676A>T (p.Thr226Ser) c.349A>T (p.Thr117Ser) | |
5 | g.149978329C>A | CA361705502 | SLC26A2 | n.909C>A c.677C>A (p.Thr226Asn) c.350C>A (p.Thr117Asn) | |
5 | g.149978329C>G | CA361705503 | SLC26A2 | n.909C>G c.677C>G (p.Thr226Ser) c.350C>G (p.Thr117Ser) | |
5 | g.149978329C>T | CA361705504 | SLC26A2 | n.909C>T c.677C>T (p.Thr226Ile) c.350C>T (p.Thr117Ile) | gnomAD v4 |
5 | g.149978330C>A | CA447402614 | SLC26A2 | n.910C>A c.678C>A (p.Thr226=) c.351C>A (p.Thr117=) | ClinVar dbSNP |
5 | g.149978330C= | CA1590737500 | SLC26A2 | n.910C= c.678C= (p.Thr226=) c.351C= (p.Thr117=) | |
5 | g.149978330C>G | CA129082758 | SLC26A2 | n.910C>G c.678C>G (p.Thr226=) c.351C>G (p.Thr117=) | dbSNP gnomAD v4 |
5 | g.149978330C>T | CA447402617 | SLC26A2 | n.910C>T c.678C>T (p.Thr226=) c.351C>T (p.Thr117=) | gnomAD v4 |
5 | g.149978331T>A | CA361705505 | SLC26A2 | n.911T>A c.679T>A (p.Phe227Ile) c.352T>A (p.Phe118Ile) | |
5 | g.149978331T>C | CA361705506 | SLC26A2 | n.911T>C c.679T>C (p.Phe227Leu) c.352T>C (p.Phe118Leu) | |
5 | g.149978331T>G | CA361705507 | SLC26A2 | n.911T>G c.679T>G (p.Phe227Val) c.352T>G (p.Phe118Val) | |
5 | g.149978332T>A | CA361705510 | SLC26A2 | n.912T>A c.680T>A (p.Phe227Tyr) c.353T>A (p.Phe118Tyr) | |
5 | g.149978332T>C | CA361705509 | SLC26A2 | n.912T>C c.680T>C (p.Phe227Ser) c.353T>C (p.Phe118Ser) | |
5 | g.149978332T>G | CA361705508 | SLC26A2 | n.912T>G c.680T>G (p.Phe227Cys) c.353T>G (p.Phe118Cys) | |
5 | g.149978333_149978335dup | CA2675943472 | SLC26A2 | n.913_915dup c.681_683dup (p.Ile228_Ala229insIle) c.354_356dup (p.Ile119_Ala120insIle) | gnomAD v4 |
5 | g.149978333T>A | CA361705511 | SLC26A2 | n.913T>A c.681T>A (p.Phe227Leu) c.354T>A (p.Phe118Leu) | |
5 | g.149978333T>C | CA447402624 | SLC26A2 | n.913T>C c.681T>C (p.Phe227=) c.354T>C (p.Phe118=) | gnomAD v4 |
5 | g.149978333T>G | CA361705512 | SLC26A2 | n.913T>G c.681T>G (p.Phe227Leu) c.354T>G (p.Phe118Leu) | |
5 | g.149978334A>C | CA361705513 | SLC26A2 | n.914A>C c.682A>C (p.Ile228Leu) c.355A>C (p.Ile119Leu) | |
5 | g.149978334A>G | CA361705514 | SLC26A2 | n.914A>G c.682A>G (p.Ile228Val) c.355A>G (p.Ile119Val) | |
5 | g.149978334A>T | CA361705515 | SLC26A2 | n.914A>T c.682A>T (p.Ile228Leu) c.355A>T (p.Ile119Leu) | |
5 | g.149978335T>A | CA361705516 | SLC26A2 | n.915T>A c.683T>A (p.Ile228Lys) c.356T>A (p.Ile119Lys) | |
5 | g.149978335T>C | CA361705517 | SLC26A2 | n.915T>C c.683T>C (p.Ile228Thr) c.356T>C (p.Ile119Thr) | |
5 | g.149978335T>G | CA361705518 | SLC26A2 | n.915T>G c.683T>G (p.Ile228Arg) c.356T>G (p.Ile119Arg) | |
5 | g.149978336A>C | CA447402626 | SLC26A2 | n.916A>C c.684A>C (p.Ile228=) c.357A>C (p.Ile119=) | |
5 | g.149978336A>G | CA361705519 | SLC26A2 | n.916A>G c.684A>G (p.Ile228Met) c.357A>G (p.Ile119Met) | |
5 | g.149978336A>T | CA447402628 | SLC26A2 | n.916A>T c.684A>T (p.Ile228=) c.357A>T (p.Ile119=) | |
5 | g.149978337G>A | CA361705520 | SLC26A2 | n.917G>A c.685G>A (p.Ala229Thr) c.358G>A (p.Ala120Thr) | COSMIC |
5 | g.149978337G>C | CA361705521 | SLC26A2 | n.917G>C c.685G>C (p.Ala229Pro) c.358G>C (p.Ala120Pro) | |
5 | g.149978337G>T | CA361705522 | SLC26A2 | n.917G>T c.685G>T (p.Ala229Ser) c.358G>T (p.Ala120Ser) | |
5 | g.149978338C>A | CA361705524 | SLC26A2 | n.918C>A c.686C>A (p.Ala229Asp) c.359C>A (p.Ala120Asp) | gnomAD v4 |
5 | g.149978338C>G | CA361705525 | SLC26A2 | n.918C>G c.686C>G (p.Ala229Gly) c.359C>G (p.Ala120Gly) | |
5 | g.149978338C>T | CA361705523 | SLC26A2 | n.918C>T c.686C>T (p.Ala229Val) c.359C>T (p.Ala120Val) | |
5 | g.149978339T>A | CA447402631 | SLC26A2 | n.919T>A c.687T>A (p.Ala229=) c.360T>A (p.Ala120=) | |
5 | g.149978339T>C | CA447402632 | SLC26A2 | n.919T>C c.687T>C (p.Ala229=) c.360T>C (p.Ala120=) | |
5 | g.149978339T>G | CA447402630 | SLC26A2 | n.919T>G c.687T>G (p.Ala229=) c.360T>G (p.Ala120=) | ClinVar |
5 | g.149978340G>A | CA361705526 | SLC26A2 | n.920G>A c.688G>A (p.Gly230Arg) c.361G>A (p.Gly121Arg) | gnomAD v4 COSMIC |
5 | g.149978340G>C | CA361705527 | SLC26A2 | n.920G>C c.688G>C (p.Gly230Arg) c.361G>C (p.Gly121Arg) | |
5 | g.149978340G>T | CA361705528 | SLC26A2 | n.920G>T c.688G>T (p.Gly230Ter) c.361G>T (p.Gly121Ter) | |
5 | g.149978341G>A | CA361705529 | SLC26A2 | n.921G>A c.689G>A (p.Gly230Glu) c.362G>A (p.Gly121Glu) | |
5 | g.149978341G>C | CA361705530 | SLC26A2 | n.921G>C c.689G>C (p.Gly230Ala) c.362G>C (p.Gly121Ala) | |
5 | g.149978341G>T | CA361705531 | SLC26A2 | n.921G>T c.689G>T (p.Gly230Val) c.362G>T (p.Gly121Val) | gnomAD v4 |
5 | g.149978342A>C | CA447402634 | SLC26A2 | n.922A>C c.690A>C (p.Gly230=) c.363A>C (p.Gly121=) | |
5 | g.149978342A>G | CA447402636 | SLC26A2 | n.922A>G c.690A>G (p.Gly230=) c.363A>G (p.Gly121=) | |
5 | g.149978342A>T | CA447402635 | SLC26A2 | n.922A>T c.690A>T (p.Gly230=) c.363A>T (p.Gly121=) | |
5 | g.149978343G>A | CA3505290 | SLC26A2 | n.923G>A c.691G>A (p.Val231Ile) c.364G>A (p.Val122Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978343G>C | CA361705532 | SLC26A2 | n.923G>C c.691G>C (p.Val231Leu) c.364G>C (p.Val122Leu) | |
5 | g.149978343G= | CA1590737502 | SLC26A2 | n.923G= c.691G= (p.Val231=) c.364G= (p.Val122=) | |
5 | g.149978343G>T | CA361705533 | SLC26A2 | n.923G>T c.691G>T (p.Val231Phe) c.364G>T (p.Val122Phe) | |
5 | g.149978343_149978344delinsGT | CA1590737501 | SLC26A2 | n.923_924delinsGT c.691_692delinsGT (p.Val231=) c.364_365delinsGT (p.Val122=) | |
5 | g.149978344T>A | CA361705534 | SLC26A2 | n.924T>A c.692T>A (p.Val231Asp) c.365T>A (p.Val122Asp) | |
5 | g.149978344T>C | CA361705535 | SLC26A2 | n.924T>C c.692T>C (p.Val231Ala) c.365T>C (p.Val122Ala) | |
5 | g.149978344T>G | CA361705536 | SLC26A2 | n.924T>G c.692T>G (p.Val231Gly) c.365T>G (p.Val122Gly) | |
5 | g.149978346del | CA3505291 | SLC26A2 | n.926del c.694del (p.Tyr232IlefsTer3) c.367del (p.Tyr123IlefsTer?) | dbSNP ExAC gnomAD v2 |
5 | g.149978345T>A | CA447402649 | SLC26A2 | n.925T>A c.693T>A (p.Val231=) c.366T>A (p.Val122=) | |
5 | g.149978345T>C | CA447402646 | SLC26A2 | n.925T>C c.693T>C (p.Val231=) c.366T>C (p.Val122=) | |
5 | g.149978345T>G | CA447402647 | SLC26A2 | n.925T>G c.693T>G (p.Val231=) c.366T>G (p.Val122=) | |
5 | g.149978346T>A | CA361705537 | SLC26A2 | n.926T>A c.694T>A (p.Tyr232Asn) c.367T>A (p.Tyr123Asn) | |
5 | g.149978346T>C | CA361705539 | SLC26A2 | n.926T>C c.694T>C (p.Tyr232His) c.367T>C (p.Tyr123His) | |
5 | g.149978346T>G | CA361705538 | SLC26A2 | n.926T>G c.694T>G (p.Tyr232Asp) c.367T>G (p.Tyr123Asp) | dbSNP gnomAD v4 |
5 | g.149978346T= | CA1590737503 | SLC26A2 | n.926T= c.694T= (p.Tyr232=) c.367T= (p.Tyr123=) | |
5 | g.149978347A= | CA1590737504 | SLC26A2 | n.927A= c.695A= (p.Tyr232=) c.368A= (p.Tyr123=) | |
5 | g.149978347A>C | CA361705540 | SLC26A2 | n.927A>C c.695A>C (p.Tyr232Ser) c.368A>C (p.Tyr123Ser) | |
5 | g.149978347A>G | CA361705541 | SLC26A2 | n.927A>G c.695A>G (p.Tyr232Cys) c.368A>G (p.Tyr123Cys) | ClinVar dbSNP gnomAD v4 |
5 | g.149978347A>T | CA3505292 | SLC26A2 | n.927A>T c.695A>T (p.Tyr232Phe) c.368A>T (p.Tyr123Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978347dup | CA2740094133 | SLC26A2 | n.927dup c.695dup (p.Tyr232Ter) c.368dup (p.Tyr123Ter) | ClinVar |
5 | g.149978348T>A | CA361705542 | SLC26A2 | n.928T>A c.696T>A (p.Tyr232Ter) c.369T>A (p.Tyr123Ter) | |
5 | g.149978348T>C | CA129082765 | SLC26A2 | n.928T>C c.696T>C (p.Tyr232=) c.369T>C (p.Tyr123=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978348T>G | CA361705543 | SLC26A2 | n.928T>G c.696T>G (p.Tyr232Ter) c.369T>G (p.Tyr123Ter) | |
5 | g.149978348T= | CA1590737505 | SLC26A2 | n.928T= c.696T= (p.Tyr232=) c.369T= (p.Tyr123=) | |
5 | g.149978349C>A | CA361705544 | SLC26A2 | n.929C>A c.697C>A (p.Gln233Lys) c.370C>A (p.Gln124Lys) | |
5 | g.149978349C= | CA1590737506 | SLC26A2 | n.929C= c.697C= (p.Gln233=) c.370C= (p.Gln124=) | |
5 | g.149978349C>G | CA361705545 | SLC26A2 | n.929C>G c.697C>G (p.Gln233Glu) c.370C>G (p.Gln124Glu) | gnomAD v4 |
5 | g.149978349C>T | CA361705546 | SLC26A2 | n.929C>T c.697C>T (p.Gln233Ter) c.370C>T (p.Gln124Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978350A>C | CA361705547 | SLC26A2 | n.930A>C c.698A>C (p.Gln233Pro) c.371A>C (p.Gln124Pro) | |
5 | g.149978350A>G | CA361705548 | SLC26A2 | n.930A>G c.698A>G (p.Gln233Arg) c.371A>G (p.Gln124Arg) | gnomAD v4 COSMIC |
5 | g.149978350A>T | CA361705549 | SLC26A2 | n.930A>T c.698A>T (p.Gln233Leu) c.371A>T (p.Gln124Leu) | |
5 | g.149978351G>A | CA447402662 | SLC26A2 | n.931G>A c.699G>A (p.Gln233=) c.372G>A (p.Gln124=) | |
5 | g.149978351G>C | CA361705550 | SLC26A2 | n.931G>C c.699G>C (p.Gln233His) c.372G>C (p.Gln124His) | dbSNP |
5 | g.149978351G= | CA1590737507 | SLC26A2 | n.931G= c.699G= (p.Gln233=) c.372G= (p.Gln124=) | |
5 | g.149978351G>T | CA361705551 | SLC26A2 | n.931G>T c.699G>T (p.Gln233His) c.372G>T (p.Gln124His) | |
5 | g.149978352G>A | CA361705553 | SLC26A2 | n.932G>A c.699+1G>A (n.699+1G>A) c.372+1G>A (n.372+1G>A) | |
5 | g.149978352G>C | CA361705554 | SLC26A2 | n.932G>C c.699+1G>C (n.699+1G>C) c.372+1G>C (n.372+1G>C) | |
5 | g.149978352G>T | CA361705552 | SLC26A2 | n.932G>T c.699+1G>T (n.699+1G>T) c.372+1G>T (n.372+1G>T) | gnomAD v4 |
5 | g.149978353T>A | CA361705555 | SLC26A2 | n.933T>A c.699+2T>A (n.699+2T>A) c.372+2T>A (n.372+2T>A) | |
5 | g.149978353T>C | CA16040989 | SLC26A2 | n.933T>C c.699+2T>C (n.699+2T>C) c.372+2T>C (n.372+2T>C) | ClinVar dbSNP |
5 | g.149978353T>G | CA361705556 | SLC26A2 | n.933T>G c.699+2T>G (n.699+2T>G) c.372+2T>G (n.372+2T>G) | |
5 | g.149978353T= | CA1590737508 | SLC26A2 | n.933T= c.699+2T= (n.699+2T=) c.372+2T= (n.372+2T=) | |
5 | g.149978354A= | CA1590737509 | SLC26A2 | n.934A= c.699+3A= (n.699+3A=) c.372+3A= (n.372+3A=) | |
5 | g.149978354A>C | CA3505293 | SLC26A2 | n.934A>C c.699+3A>C (n.699+3A>C) c.372+3A>C (n.372+3A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978354A>T | CA2675943473 | SLC26A2 | n.934A>T c.699+3A>T (n.699+3A>T) c.372+3A>T (n.372+3A>T) | gnomAD v4 |
5 | g.149978356G>T | CA2675943474 | SLC26A2 | n.936G>T c.699+5G>T (n.699+5G>T) c.372+5G>T (n.372+5G>T) | gnomAD v4 |
5 | g.149978357C>T | CA2675943475 | SLC26A2 | n.937C>T c.699+6C>T (n.699+6C>T) c.372+6C>T (n.372+6C>T) | gnomAD v4 |
5 | g.149978359G>A | CA3505294 | SLC26A2 | n.939G>A c.699+8G>A (n.699+8G>A) c.372+8G>A (n.372+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978359G= | CA1590737510 | SLC26A2 | n.939G= c.699+8G= (n.699+8G=) c.372+8G= (n.372+8G=) | |
5 | g.149978359G>T | CA2675943476 | SLC26A2 | n.939G>T c.699+8G>T (n.699+8G>T) c.372+8G>T (n.372+8G>T) | gnomAD v4 |
5 | g.149978360C>A | CA563955681 | SLC26A2 | n.940C>A c.699+9C>A (n.699+9C>A) c.372+9C>A (n.372+9C>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978360C= | CA1590737511 | SLC26A2 | n.940C= c.699+9C= (n.699+9C=) c.372+9C= (n.372+9C=) | |
5 | g.149978361A>C | CA2675943477 | SLC26A2 | n.941A>C c.699+10A>C (n.699+10A>C) c.372+10A>C (n.372+10A>C) | gnomAD v4 |
5 | g.149978364_149978393dup | CA3505295 | SLC26A2 | n.944_973dup c.699+13_699+42dup (n.699+13_699+42dup) c.372+13_372+42dup (n.372+13_372+42dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978362A= | CA1590737512 | SLC26A2 | n.942A= c.699+11A= (n.699+11A=) c.372+11A= (n.372+11A=) | |
5 | g.149978362A>G | CA3505296 | SLC26A2 | n.942A>G c.699+11A>G (n.699+11A>G) c.372+11A>G (n.372+11A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978364G>A | CA2675943478 | SLC26A2 | n.944G>A c.699+13G>A (n.699+13G>A) c.372+13G>A (n.372+13G>A) | gnomAD v4 |
5 | g.149978364G= | CA1590737513 | SLC26A2 | n.944G= c.699+13G= (n.699+13G=) c.372+13G= (n.372+13G=) | |
5 | g.149978364G>T | CA10623448 | SLC26A2 | n.944G>T c.699+13G>T (n.699+13G>T) c.372+13G>T (n.372+13G>T) | ClinVar dbSNP gnomAD v4 |
5 | g.149978365A>G | CA2675943479 | SLC26A2 | n.945A>G c.699+14A>G (n.699+14A>G) c.372+14A>G (n.372+14A>G) | gnomAD v4 |
5 | g.149978366A= | CA1590737514 | SLC26A2 | n.946A= c.699+15A= (n.699+15A=) c.372+15A= (n.372+15A=) | |
5 | g.149978366A>G | CA1590737515 | SLC26A2 | n.946A>G c.699+15A>G (n.699+15A>G) c.372+15A>G (n.372+15A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978368C>A | CA2675943480 | SLC26A2 | n.948C>A c.699+17C>A (n.699+17C>A) c.372+17C>A (n.372+17C>A) | gnomAD v4 |
5 | g.149978368C>T | CA2578449456 | SLC26A2 | n.948C>T c.699+17C>T (n.699+17C>T) c.372+17C>T (n.372+17C>T) | ClinVar |
5 | g.149978369A>G | CA2675943481 | SLC26A2 | n.949A>G c.699+18A>G (n.699+18A>G) c.372+18A>G (n.372+18A>G) | gnomAD v4 |
5 | g.149978370A= | CA1590737516 | SLC26A2 | n.950A= c.699+19A= (n.699+19A=) c.372+19A= (n.372+19A=) | |
5 | g.149978370A>G | CA1590737517 | SLC26A2 | n.950A>G c.699+19A>G (n.699+19A>G) c.372+19A>G (n.372+19A>G) | dbSNP |
5 | g.149978371T>C | CA3505297 | SLC26A2 | n.951T>C c.699+20T>C (n.699+20T>C) c.372+20T>C (n.372+20T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978371T= | CA1590737518 | SLC26A2 | n.951T= c.699+20T= (n.699+20T=) c.372+20T= (n.372+20T=) | |
5 | g.149978371_149978376del | CA2675943482 | SLC26A2 | n.951_956del c.699+20_699+25del (n.699+20_699+25del) c.372+20_372+25del (n.372+20_372+25del) | gnomAD v4 |
5 | g.149978372T>A | CA1590737520 | SLC26A2 | n.952T>A c.699+21T>A (n.699+21T>A) c.372+21T>A (n.372+21T>A) | dbSNP |
5 | g.149978372T= | CA1590737519 | SLC26A2 | n.952T= c.699+21T= (n.699+21T=) c.372+21T= (n.372+21T=) | |
5 | g.149978373G>C | CA1082857729 | SLC26A2 | n.953G>C c.699+22G>C (n.699+22G>C) c.372+22G>C (n.372+22G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978373G= | CA1590737521 | SLC26A2 | n.953G= c.699+22G= (n.699+22G=) c.372+22G= (n.372+22G=) | |
5 | g.149978373G>T | CA2675943483 | SLC26A2 | n.953G>T c.699+22G>T (n.699+22G>T) c.372+22G>T (n.372+22G>T) | gnomAD v4 |
5 | g.149978374G>A | CA2675943484 | SLC26A2 | n.954G>A c.699+23G>A (n.699+23G>A) c.372+23G>A (n.372+23G>A) | gnomAD v4 |
5 | g.149978374G>T | CA2675943485 | SLC26A2 | n.954G>T c.699+23G>T (n.699+23G>T) c.372+23G>T (n.372+23G>T) | gnomAD v4 |
5 | g.149978375T>A | CA563955682 | SLC26A2 | n.955T>A c.699+24T>A (n.699+24T>A) c.372+24T>A (n.372+24T>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978375T>C | CA129082793 | SLC26A2 | n.955T>C c.699+24T>C (n.699+24T>C) c.372+24T>C (n.372+24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978375T= | CA1590737522 | SLC26A2 | n.955T= c.699+24T= (n.699+24T=) c.372+24T= (n.372+24T=) | |
5 | g.149978377A= | CA1590737523 | SLC26A2 | n.957A= c.699+26A= (n.699+26A=) c.372+26A= (n.372+26A=) | |
5 | g.149978377A>G | CA563955683 | SLC26A2 | n.957A>G c.699+26A>G (n.699+26A>G) c.372+26A>G (n.372+26A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978379_149978382del | CA2675943486 | SLC26A2 | n.959_962del c.699+28_699+31del (n.699+28_699+31del) c.372+28_372+31del (n.372+28_372+31del) | gnomAD v4 |
5 | g.149978381C>A | CA2675943487 | SLC26A2 | n.961C>A c.699+30C>A (n.699+30C>A) c.372+30C>A (n.372+30C>A) | gnomAD v4 |
5 | g.149978382T>A | CA2578449457 | SLC26A2 | n.962T>A c.699+31T>A (n.699+31T>A) c.372+31T>A (n.372+31T>A) | |
5 | g.149978382T>C | CA3505298 | SLC26A2 | n.962T>C c.699+31T>C (n.699+31T>C) c.372+31T>C (n.372+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978382T= | CA1590737524 | SLC26A2 | n.962T= c.699+31T= (n.699+31T=) c.372+31T= (n.372+31T=) | |
5 | g.149978383A>G | CA2675943488 | SLC26A2 | n.963A>G c.699+32A>G (n.699+32A>G) c.372+32A>G (n.372+32A>G) | gnomAD v4 |
5 | g.149978384G>A | CA2675943489 | SLC26A2 | n.964G>A c.699+33G>A (n.699+33G>A) c.372+33G>A (n.372+33G>A) | gnomAD v4 |
5 | g.149978385A>C | CA2740693912 | SLC26A2 | n.965A>C c.699+34A>C (n.699+34A>C) c.372+34A>C (n.372+34A>C) | |
5 | g.149978386A= | CA1590737525 | SLC26A2 | n.966A= c.699+35A= (n.699+35A=) c.372+35A= (n.372+35A=) | |
5 | g.149978386A>G | CA3505299 | SLC26A2 | n.966A>G c.699+35A>G (n.699+35A>G) c.372+35A>G (n.372+35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978387A>T | CA2578449458 | SLC26A2 | n.967A>T c.699+36A>T (n.699+36A>T) c.372+36A>T (n.372+36A>T) | |
5 | g.149978389_149978392del | CA2675943490 | SLC26A2 | n.969_972del c.699+38_699+41del (n.699+38_699+41del) c.372+38_372+41del (n.372+38_372+41del) | gnomAD v4 |
5 | g.149978390T>A | CA2675943491 | SLC26A2 | n.970T>A c.699+39T>A (n.699+39T>A) c.372+39T>A (n.372+39T>A) | gnomAD v4 |
5 | g.149978392A= | CA1590737526 | SLC26A2 | n.972A= c.699+41A= (n.699+41A=) c.372+41A= (n.372+41A=) | |
5 | g.149978392A>C | CA563955684 | SLC26A2 | n.972A>C c.699+41A>C (n.699+41A>C) c.372+41A>C (n.372+41A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978393T>A | CA2578449459 | SLC26A2 | n.973T>A c.699+42T>A (n.699+42T>A) c.372+42T>A (n.372+42T>A) | |
5 | g.149978393T>C | CA1590737528 | SLC26A2 | n.973T>C c.699+42T>C (n.699+42T>C) c.372+42T>C (n.372+42T>C) | dbSNP |
5 | g.149978393T= | CA1590737527 | SLC26A2 | n.973T= c.699+42T= (n.699+42T=) c.372+42T= (n.372+42T=) | |
5 | g.149978394C>A | CA2578449460 | SLC26A2 | n.974C>A c.699+43C>A (n.699+43C>A) c.372+43C>A (n.372+43C>A) | gnomAD v4 |
5 | g.149978394C= | CA1590737529 | SLC26A2 | n.974C= c.699+43C= (n.699+43C=) c.372+43C= (n.372+43C=) | |
5 | g.149978394C>G | CA3505301 | SLC26A2 | n.974C>G c.699+43C>G (n.699+43C>G) c.372+43C>G (n.372+43C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978394C>T | CA3505300 | SLC26A2 | n.974C>T c.699+43C>T (n.699+43C>T) c.372+43C>T (n.372+43C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978396A= | CA1590737530 | SLC26A2 | n.976A= c.699+45A= (n.699+45A=) c.372+45A= (n.372+45A=) | |
5 | g.149978396A>G | CA1590737531 | SLC26A2 | n.976A>G c.699+45A>G (n.699+45A>G) c.372+45A>G (n.372+45A>G) | dbSNP gnomAD v4 |
5 | g.149978397G>A | CA2578449461 | SLC26A2 | n.977G>A c.699+46G>A (n.699+46G>A) c.372+46G>A (n.372+46G>A) | |
5 | g.149978397G>C | CA1082857737 | SLC26A2 | n.977G>C c.699+46G>C (n.699+46G>C) c.372+46G>C (n.372+46G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149978397G= | CA1590737532 | SLC26A2 | n.977G= c.699+46G= (n.699+46G=) c.372+46G= (n.372+46G=) | |
5 | g.149978398T>A | CA2675943492 | SLC26A2 | n.978T>A c.699+47T>A (n.699+47T>A) c.372+47T>A (n.372+47T>A) | gnomAD v4 |