Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) |