Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149978200_149978296dup | CA2768879950 | SLC26A2 | n.780_876dup c.548_644dup (p.Cys216TrpfsTer3) c.221_317dup (p.Cys107TrpfsTer3) | |
5 | g.149978270T>A | CA361705372 | SLC26A2 | n.850T>A c.618T>A (p.His206Gln) c.291T>A (p.His97Gln) | |
5 | g.149978270T>C | CA447402182 | SLC26A2 | n.850T>C c.618T>C (p.His206=) c.291T>C (p.His97=) | |
5 | g.149978270T>G | CA3505283 | SLC26A2 | n.850T>G c.618T>G (p.His206Gln) c.291T>G (p.His97Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978270T= | CA1590737479 | SLC26A2 | n.850T= c.618T= (p.His206=) c.291T= (p.His97=) | |
5 | g.149978271A>C | CA361705373 | SLC26A2 | n.851A>C c.619A>C (p.Thr207Pro) c.292A>C (p.Thr98Pro) | |
5 | g.149978271A>G | CA361705374 | SLC26A2 | n.851A>G c.619A>G (p.Thr207Ala) c.292A>G (p.Thr98Ala) | |
5 | g.149978271A>T | CA361705375 | SLC26A2 | n.851A>T c.619A>T (p.Thr207Ser) c.292A>T (p.Thr98Ser) | |
5 | g.149978272C>A | CA361705378 | SLC26A2 | n.852C>A c.620C>A (p.Thr207Lys) c.293C>A (p.Thr98Lys) | |
5 | g.149978272C>G | CA361705377 | SLC26A2 | n.852C>G c.620C>G (p.Thr207Arg) c.293C>G (p.Thr98Arg) | |
5 | g.149978272C>T | CA361705376 | SLC26A2 | n.852C>T c.620C>T (p.Thr207Ile) c.293C>T (p.Thr98Ile) | |
5 | g.149978273A>C | CA447402189 | SLC26A2 | n.853A>C c.621A>C (p.Thr207=) c.294A>C (p.Thr98=) | |
5 | g.149978273A>G | CA447402192 | SLC26A2 | n.853A>G c.621A>G (p.Thr207=) c.294A>G (p.Thr98=) | |
5 | g.149978273A>T | CA447402194 | SLC26A2 | n.853A>T c.621A>T (p.Thr207=) c.294A>T (p.Thr98=) | |
5 | g.149978274T>A | CA361705380 | SLC26A2 | n.854T>A c.622T>A (p.Ser208Thr) c.295T>A (p.Ser99Thr) | |
5 | g.149978274T>C | CA361705379 | SLC26A2 | n.854T>C c.622T>C (p.Ser208Pro) c.295T>C (p.Ser99Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149978274T>G | CA361705381 | SLC26A2 | n.854T>G c.622T>G (p.Ser208Ala) c.295T>G (p.Ser99Ala) | |
5 | g.149978274T= | CA1590737480 | SLC26A2 | n.854T= c.622T= (p.Ser208=) c.295T= (p.Ser99=) | |
5 | g.149978275C>A | CA361705382 | SLC26A2 | n.855C>A c.623C>A (p.Ser208Ter) c.296C>A (p.Ser99Ter) | |
5 | g.149978275C>G | CA361705383 | SLC26A2 | n.855C>G c.623C>G (p.Ser208Ter) c.296C>G (p.Ser99Ter) | |
5 | g.149978275C>T | CA361705384 | SLC26A2 | n.855C>T c.623C>T (p.Ser208Leu) c.296C>T (p.Ser99Leu) | dbSNP gnomAD v4 COSMIC |
5 | g.149978276A>C | CA447402201 | SLC26A2 | n.856A>C c.624A>C (p.Ser208=) c.297A>C (p.Ser99=) | |
5 | g.149978276A>G | CA447402206 | SLC26A2 | n.856A>G c.624A>G (p.Ser208=) c.297A>G (p.Ser99=) | |
5 | g.149978276A>T | CA447402207 | SLC26A2 | n.856A>T c.624A>T (p.Ser208=) c.297A>T (p.Ser99=) | |
5 | g.149978277G>A | CA361705385 | SLC26A2 | n.857G>A c.625G>A (p.Asp209Asn) c.298G>A (p.Asp100Asn) | |
5 | g.149978277G>C | CA361705386 | SLC26A2 | n.857G>C c.625G>C (p.Asp209His) c.298G>C (p.Asp100His) | |
5 | g.149978277G>T | CA361705387 | SLC26A2 | n.857G>T c.625G>T (p.Asp209Tyr) c.298G>T (p.Asp100Tyr) | |
5 | g.149978278A>C | CA361705388 | SLC26A2 | n.858A>C c.626A>C (p.Asp209Ala) c.299A>C (p.Asp100Ala) | |
5 | g.149978278A>G | CA361705389 | SLC26A2 | n.858A>G c.626A>G (p.Asp209Gly) c.299A>G (p.Asp100Gly) | gnomAD v4 |
5 | g.149978278A>T | CA361705390 | SLC26A2 | n.858A>T c.626A>T (p.Asp209Val) c.299A>T (p.Asp100Val) | |
5 | g.149978279C>A | CA3505284 | SLC26A2 | n.859C>A c.627C>A (p.Asp209Glu) c.300C>A (p.Asp100Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978279C= | CA1590737481 | SLC26A2 | n.859C= c.627C= (p.Asp209=) c.300C= (p.Asp100=) | |
5 | g.149978279C>G | CA361705391 | SLC26A2 | n.859C>G c.627C>G (p.Asp209Glu) c.300C>G (p.Asp100Glu) | |
5 | g.149978279C>T | CA447402213 | SLC26A2 | n.859C>T c.627C>T (p.Asp209=) c.300C>T (p.Asp100=) | ClinVar gnomAD v4 |
5 | g.149978280A= | CA1590737482 | SLC26A2 | n.860A= c.628A= (p.Arg210=) c.301A= (p.Arg101=) | |
5 | g.149978280A>C | CA447402214 | SLC26A2 | n.860A>C c.628A>C (p.Arg210=) c.301A>C (p.Arg101=) | |
5 | g.149978280A>G | CA361705392 | SLC26A2 | n.860A>G c.628A>G (p.Arg210Gly) c.301A>G (p.Arg101Gly) | |
5 | g.149978280A>T | CA361705393 | SLC26A2 | n.860A>T c.628A>T (p.Arg210Trp) c.301A>T (p.Arg101Trp) | |
5 | g.149978280_149978281insCTGTT | CA563955679 | SLC26A2 | n.860_861insCTGTT c.628_629insCTGTT (p.Arg210ThrfsTer18) c.301_302insCTGTT (p.Arg101ThrfsTer18) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978281G>A | CA361705394 | SLC26A2 | n.861G>A c.629G>A (p.Arg210Lys) c.302G>A (p.Arg101Lys) | gnomAD v4 |
5 | g.149978281G>C | CA361705396 | SLC26A2 | n.861G>C c.629G>C (p.Arg210Thr) c.302G>C (p.Arg101Thr) | |
5 | g.149978281G>T | CA361705395 | SLC26A2 | n.861G>T c.629G>T (p.Arg210Met) c.302G>T (p.Arg101Met) | |
5 | g.149978282G>A | CA129082727 | SLC26A2 | n.862G>A c.630G>A (p.Arg210=) c.303G>A (p.Arg101=) | ClinVar dbSNP gnomAD v4 |
5 | g.149978282G>C | CA361705397 | SLC26A2 | n.862G>C c.630G>C (p.Arg210Ser) c.303G>C (p.Arg101Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149978282G= | CA1590737483 | SLC26A2 | n.862G= c.630G= (p.Arg210=) c.303G= (p.Arg101=) | |
5 | g.149978282G>T | CA361705398 | SLC26A2 | n.862G>T c.630G>T (p.Arg210Ser) c.303G>T (p.Arg101Ser) | |
5 | g.149978283A= | CA1590737484 | SLC26A2 | n.863A= c.631A= (p.Ile211=) c.304A= (p.Ile102=) | |
5 | g.149978283A>C | CA361705399 | SLC26A2 | n.863A>C c.631A>C (p.Ile211Leu) c.304A>C (p.Ile102Leu) | |
5 | g.149978283A>G | CA3505285 | SLC26A2 | n.863A>G c.631A>G (p.Ile211Val) c.304A>G (p.Ile102Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149978283A>T | CA129082731 | SLC26A2 | n.863A>T c.631A>T (p.Ile211Leu) c.304A>T (p.Ile102Leu) | dbSNP gnomAD v4 |