Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107683434_107683467del | CA913111806 | SLC26A4 | c.919-21_931del | |
7 | g.107683433_107683466delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT | CA1732741820 | SLC26A4 | c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT | |
7 | g.107683436_107683468del | CA658821802 | SLC26A4 | c.919-19_932del | ClinVar dbSNP |
7 | g.107683437T>G | CA4432626 | SLC26A4 | c.919-18T>G (n.919-18T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107683437T= | CA1732741830 | SLC26A4 | c.919-18T= (n.919-18T=) | |
7 | g.107683438C>A | CA2684466179 | SLC26A4 | c.919-17C>A (n.919-17C>A) | gnomAD v4 |
7 | g.107683438C= | CA1732741833 | SLC26A4 | c.919-17C= (n.919-17C=) | |
7 | g.107683438C>T | CA831174323 | SLC26A4 | c.919-17C>T (n.919-17C>T) | ClinVar dbSNP |
7 | g.107683438_107683440delinsCTT | CA1732741834 | SLC26A4 | c.919-17_919-15delinsCTT (n.919-17_919-15delinsCTT) | |
7 | g.107683439T>C | CA2578988685 | SLC26A4 | c.919-16T>C (n.919-16T>C) | ClinVar gnomAD v4 |
7 | g.107683441_107683442del | CA4432627 | SLC26A4 | c.919-14_919-13del (n.919-14_919-13del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107683440T>C | CA2558754573 | SLC26A4 | c.919-15T>C (n.919-15T>C) | |
7 | g.107683440T>G | CA1732741838 | SLC26A4 | c.919-15T>G (n.919-15T>G) | dbSNP |
7 | g.107683440T= | CA1732741837 | SLC26A4 | c.919-15T= (n.919-15T=) | |
7 | g.107683445T>A | CA2578988686 | SLC26A4 | c.919-10T>A (n.919-10T>A) | |
7 | g.107683445T>C | CA2739278393 | SLC26A4 | c.919-10T>C (n.919-10T>C) | ClinVar |
7 | g.107683446T>A | CA457205269 | SLC26A4 | c.919-9T>A (n.919-9T>A) | COSMIC |
7 | g.107683446T>G | CA2697557492 | SLC26A4 | c.919-9T>G (n.919-9T>G) | ClinVar |
7 | g.107683448A>C | CA2580076164 | SLC26A4 | c.919-7A>C (n.919-7A>C) | ClinVar |
7 | g.107683449T>C | CA1732741842 | SLC26A4 | c.919-6T>C (n.919-6T>C) | dbSNP |
7 | g.107683449T= | CA1732741840 | SLC26A4 | c.919-6T= (n.919-6T=) | |
7 | g.107683452C= | CA1732741844 | SLC26A4 | c.919-3C= (n.919-3C=) | |
7 | g.107683452C>T | CA577198877 | SLC26A4 | c.919-3C>T (n.919-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107683453A= | CA1732741850 | SLC26A4 | c.919-2A= (n.919-2A=) | |
7 | g.107683453A>C | CA368835558 | SLC26A4 | c.919-2A>C (n.919-2A>C) | ClinVar |
7 | g.107683453A>G | CA261445 | SLC26A4 | c.919-2A>G (n.919-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107683453A>T | CA368835561 | SLC26A4 | c.919-2A>T (n.919-2A>T) | |
7 | g.107683454G>A | CA368835564 | SLC26A4 | c.919-1G>A (n.919-1G>A) | |
7 | g.107683454G>C | CA368835566 | SLC26A4 | c.919-1G>C (n.919-1G>C) | |
7 | g.107683454G>T | CA368835568 | SLC26A4 | c.919-1G>T (n.919-1G>T) | |
7 | g.107683455A= | CA1732741858 | SLC26A4 | c.919A= (p.Thr307=) | |
7 | g.107683455A>C | CA368835573 | SLC26A4 | c.919A>C (p.Thr307Pro) | gnomAD v4 |
7 | g.107683455A>G | CA368835575 | SLC26A4 | c.919A>G (p.Thr307Ala) | ClinVar dbSNP |
7 | g.107683455A>T | CA368835571 | SLC26A4 | c.919A>T (p.Thr307Ser) | |
7 | g.107683455_107683472delinsCCCCA | CA2695208351 | SLC26A4 | c.919_936delinsCCCCA (p.Thr307ProfsTer?) | |
7 | g.107683456C>A | CA368835581 | SLC26A4 | c.920C>A (p.Thr307Lys) | |
7 | g.107683456C= | CA1732741868 | SLC26A4 | c.920C= (p.Thr307=) | |
7 | g.107683456C>G | CA368835578 | SLC26A4 | c.920C>G (p.Thr307Arg) | |
7 | g.107683456C>T | CA4432628 | SLC26A4 | c.920C>T (p.Thr307Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107683457G>A | CA4432629 | SLC26A4 | c.921G>A (p.Thr307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107683457G>C | CA457205280 | SLC26A4 | c.921G>C (p.Thr307=) | COSMIC |
7 | g.107683457G= | CA1732741870 | SLC26A4 | c.921G= (p.Thr307=) | |
7 | g.107683457G>T | CA457205281 | SLC26A4 | c.921G>T (p.Thr307=) | dbSNP gnomAD v4 |
7 | g.107683458A>C | CA368835584 | SLC26A4 | c.922A>C (p.Ile308Leu) | |
7 | g.107683458A>G | CA368835587 | SLC26A4 | c.922A>G (p.Ile308Val) | gnomAD v4 |
7 | g.107683458A>T | CA368835589 | SLC26A4 | c.922A>T (p.Ile308Leu) | |
7 | g.107683459T>A | CA368835592 | SLC26A4 | c.923T>A (p.Ile308Lys) | |
7 | g.107683459T>C | CA368835595 | SLC26A4 | c.923T>C (p.Ile308Thr) | |
7 | g.107683459T>G | CA368835598 | SLC26A4 | c.923T>G (p.Ile308Arg) | |
7 | g.107683461_107683467del | CA2695208352 | SLC26A4 | c.925_931del (p.Ile309LeufsTer?) |