Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149981042T>A | CA447402643 | SLC26A2 | c.1449T>A (p.Leu483=) c.372+2691T>A (n.372+2691T>A) | |
5 | g.149981042T>C | CA447402644 | SLC26A2 | c.1449T>C (p.Leu483=) c.372+2691T>C (n.372+2691T>C) | |
5 | g.149981042T>G | CA447402645 | SLC26A2 | c.1449T>G (p.Leu483=) c.372+2691T>G (n.372+2691T>G) | |
5 | g.149981043G>A | CA361707895 | SLC26A2 | c.1450G>A (p.Gly484Ser) c.372+2692G>A (n.372+2692G>A) | gnomAD v4 |
5 | g.149981043G>C | CA361707896 | SLC26A2 | c.1450G>C (p.Gly484Arg) c.372+2692G>C (n.372+2692G>C) | |
5 | g.149981043G>T | CA361707894 | SLC26A2 | c.1450G>T (p.Gly484Cys) c.372+2692G>T (n.372+2692G>T) | |
5 | g.149981044G>A | CA263252 | SLC26A2 | c.1451G>A (p.Gly484Asp) c.372+2693G>A (n.372+2693G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149981044G>C | CA361707897 | SLC26A2 | c.1451G>C (p.Gly484Ala) c.372+2693G>C (n.372+2693G>C) | |
5 | g.149981044G= | CA1590738626 | SLC26A2 | c.1451G= (p.Gly484=) c.372+2693G= (n.372+2693G=) | |
5 | g.149981044G>T | CA361707898 | SLC26A2 | c.1451G>T (p.Gly484Val) c.372+2693G>T (n.372+2693G>T) | |
5 | g.149981045T>A | CA447402650 | SLC26A2 | c.1452T>A (p.Gly484=) c.372+2694T>A (n.372+2694T>A) | |
5 | g.149981045T>C | CA447402652 | SLC26A2 | c.1452T>C (p.Gly484=) c.372+2694T>C (n.372+2694T>C) | ClinVar |
5 | g.149981045T>G | CA447402653 | SLC26A2 | c.1452T>G (p.Gly484=) c.372+2694T>G (n.372+2694T>G) | |
5 | g.149981046G>A | CA361707899 | SLC26A2 | c.1453G>A (p.Val485Met) c.372+2695G>A (n.372+2695G>A) | |
5 | g.149981046G>C | CA361707900 | SLC26A2 | c.1453G>C (p.Val485Leu) c.372+2695G>C (n.372+2695G>C) | |
5 | g.149981046G>T | CA361707901 | SLC26A2 | c.1453G>T (p.Val485Leu) c.372+2695G>T (n.372+2695G>T) | |
5 | g.149981047T>A | CA361707902 | SLC26A2 | c.1454T>A (p.Val485Glu) c.372+2696T>A (n.372+2696T>A) | |
5 | g.149981047T>C | CA361707903 | SLC26A2 | c.1454T>C (p.Val485Ala) c.372+2696T>C (n.372+2696T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981047T>G | CA361707904 | SLC26A2 | c.1454T>G (p.Val485Gly) c.372+2696T>G (n.372+2696T>G) | |
5 | g.149981047T= | CA1590738627 | SLC26A2 | c.1454T= (p.Val485=) c.372+2696T= (n.372+2696T=) | |
5 | g.149981047_149981052dup | CA2768879541 | SLC26A2 | c.1454_1459dup (p.Ile486_Thr487insMetIle) c.372+2696_372+2701dup (n.372+2696_372+2701dup) | |
5 | g.149981048G>A | CA447402655 | SLC26A2 | c.1455G>A (p.Val485=) c.372+2697G>A (n.372+2697G>A) | |
5 | g.149981048G>C | CA447402656 | SLC26A2 | c.1455G>C (p.Val485=) c.372+2697G>C (n.372+2697G>C) | |
5 | g.149981048G>T | CA447402657 | SLC26A2 | c.1455G>T (p.Val485=) c.372+2697G>T (n.372+2697G>T) | |
5 | g.149981049A= | CA1590738628 | SLC26A2 | c.1456A= (p.Ile486=) c.372+2698A= (n.372+2698A=) | |
5 | g.149981049A>C | CA361707905 | SLC26A2 | c.1456A>C (p.Ile486Leu) c.372+2698A>C (n.372+2698A>C) | |
5 | g.149981049A>G | CA3505441 | SLC26A2 | c.1456A>G (p.Ile486Val) c.372+2698A>G (n.372+2698A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981049A>T | CA361707906 | SLC26A2 | c.1456A>T (p.Ile486Phe) c.372+2698A>T (n.372+2698A>T) | |
5 | g.149981050T>A | CA361707907 | SLC26A2 | c.1457T>A (p.Ile486Asn) c.372+2699T>A (n.372+2699T>A) | |
5 | g.149981050T>C | CA361707908 | SLC26A2 | c.1457T>C (p.Ile486Thr) c.372+2699T>C (n.372+2699T>C) | gnomAD v4 |
5 | g.149981050T>G | CA361707909 | SLC26A2 | c.1457T>G (p.Ile486Ser) c.372+2699T>G (n.372+2699T>G) | |
5 | g.149981051C>A | CA447402660 | SLC26A2 | c.1458C>A (p.Ile486=) c.372+2700C>A (n.372+2700C>A) | ClinVar |
5 | g.149981051C= | CA1590738629 | SLC26A2 | c.1458C= (p.Ile486=) c.372+2700C= (n.372+2700C=) | |
5 | g.149981051C>G | CA361707910 | SLC26A2 | c.1458C>G (p.Ile486Met) c.372+2700C>G (n.372+2700C>G) | gnomAD v4 |
5 | g.149981051C>T | CA447402661 | SLC26A2 | c.1458C>T (p.Ile486=) c.372+2700C>T (n.372+2700C>T) | dbSNP gnomAD v4 |
5 | g.149981052A>C | CA361707911 | SLC26A2 | c.1459A>C (p.Thr487Pro) c.372+2701A>C (n.372+2701A>C) | |
5 | g.149981052A>G | CA361707912 | SLC26A2 | c.1459A>G (p.Thr487Ala) c.372+2701A>G (n.372+2701A>G) | |
5 | g.149981052A>T | CA361707913 | SLC26A2 | c.1459A>T (p.Thr487Ser) c.372+2701A>T (n.372+2701A>T) | |
5 | g.149981053C>A | CA361707914 | SLC26A2 | c.1460C>A (p.Thr487Lys) c.372+2702C>A (n.372+2702C>A) | |
5 | g.149981053C= | CA1590738630 | SLC26A2 | c.1460C= (p.Thr487=) c.372+2702C= (n.372+2702C=) | |
5 | g.149981053C>G | CA361707915 | SLC26A2 | c.1460C>G (p.Thr487Arg) c.372+2702C>G (n.372+2702C>G) | |
5 | g.149981053C>T | CA3505442 | SLC26A2 | c.1460C>T (p.Thr487Ile) c.372+2702C>T (n.372+2702C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981054A>C | CA447402664 | SLC26A2 | c.1461A>C (p.Thr487=) c.372+2703A>C (n.372+2703A>C) | |
5 | g.149981054A>G | CA447402665 | SLC26A2 | c.1461A>G (p.Thr487=) c.372+2703A>G (n.372+2703A>G) | gnomAD v4 |
5 | g.149981054A>T | CA447402663 | SLC26A2 | c.1461A>T (p.Thr487=) c.372+2703A>T (n.372+2703A>T) | |
5 | g.149981055A= | CA1590738631 | SLC26A2 | c.1462A= (p.Ile488=) c.372+2704A= (n.372+2704A=) | |
5 | g.149981055A>C | CA361707916 | SLC26A2 | c.1462A>C (p.Ile488Leu) c.372+2704A>C (n.372+2704A>C) | |
5 | g.149981055A>G | CA243094 | SLC26A2 | c.1462A>G (p.Ile488Val) c.372+2704A>G (n.372+2704A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981055A>T | CA361707917 | SLC26A2 | c.1462A>T (p.Ile488Phe) c.372+2704A>T (n.372+2704A>T) | |
5 | g.149981056T>A | CA361707918 | SLC26A2 | c.1463T>A (p.Ile488Asn) c.372+2705T>A (n.372+2705T>A) |