Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149981217_149981243delinsGTCATCCTCCGCACTCAGAAGCCAAAG | CA1590738688 | SLC26A2 | c.1624_1650delinsGTCATCCTCCGCACTCAGAAGCCAAAG (p.Val542=) c.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG (n.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG) | |
5 | g.149981218_149981243delinsAACACCA | CA1139659141 | SLC26A2 | c.1625_1650delinsAACACCA (p.Val542GlufsTer?) c.372+2867_372+2892delinsAACACCA (n.372+2867_372+2892delinsAACACCA) | ClinVar dbSNP |
5 | g.149981239_149981240delinsCA | CA1590738699 | SLC26A2 | c.1646_1647delinsCA (p.Pro549=) c.372+2888_372+2889delinsCA (n.372+2888_372+2889delinsCA) | |
5 | g.149981240A= | CA1590738700 | SLC26A2 | c.1647A= (p.Pro549=) c.372+2889A= (n.372+2889A=) | |
5 | g.149981240A>C | CA447402814 | SLC26A2 | c.1647A>C (p.Pro549=) c.372+2889A>C (n.372+2889A>C) | |
5 | g.149981240A>G | CA3505472 | SLC26A2 | c.1647A>G (p.Pro549=) c.372+2889A>G (n.372+2889A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981240A>T | CA447402813 | SLC26A2 | c.1647A>T (p.Pro549=) c.372+2889A>T (n.372+2889A>T) | |
5 | g.149981242del | CA16040998 | SLC26A2 | c.1649del (p.Lys550ArgfsTer?) c.372+2891del (n.372+2891del) | ClinVar dbSNP gnomAD v4 |
5 | g.149981241A>C | CA361708310 | SLC26A2 | c.1648A>C (p.Lys550Gln) c.372+2890A>C (n.372+2890A>C) | gnomAD v4 |
5 | g.149981241A>G | CA361708308 | SLC26A2 | c.1648A>G (p.Lys550Glu) c.372+2890A>G (n.372+2890A>G) | gnomAD v4 |
5 | g.149981241A>T | CA361708309 | SLC26A2 | c.1648A>T (p.Lys550Ter) c.372+2890A>T (n.372+2890A>T) | |
5 | g.149981242A= | CA1590738702 | SLC26A2 | c.1649A= (p.Lys550=) c.372+2891A= (n.372+2891A=) | |
5 | g.149981242A>C | CA361708311 | SLC26A2 | c.1649A>C (p.Lys550Thr) c.372+2891A>C (n.372+2891A>C) | dbSNP gnomAD v4 |
5 | g.149981242A>G | CA361708312 | SLC26A2 | c.1649A>G (p.Lys550Arg) c.372+2891A>G (n.372+2891A>G) | gnomAD v4 |
5 | g.149981242A>T | CA361708313 | SLC26A2 | c.1649A>T (p.Lys550Met) c.372+2891A>T (n.372+2891A>T) | |
5 | g.149981242_149981243delinsAG | CA1590738701 | SLC26A2 | c.1649_1650delinsAG (p.Lys550=) c.372+2891_372+2892delinsAG (n.372+2891_372+2892delinsAG) | |
5 | g.149981243del | CA263255 | SLC26A2 | c.1650del (p.Ser551ValfsTer?) c.372+2892del (n.372+2892del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981243G>A | CA447402816 | SLC26A2 | c.1650G>A (p.Lys550=) c.372+2892G>A (n.372+2892G>A) | |
5 | g.149981243G>C | CA361708314 | SLC26A2 | c.1650G>C (p.Lys550Asn) c.372+2892G>C (n.372+2892G>C) | |
5 | g.149981243G>T | CA361708315 | SLC26A2 | c.1650G>T (p.Lys550Asn) c.372+2892G>T (n.372+2892G>T) | gnomAD v4 |
5 | g.149981244A>C | CA361708318 | SLC26A2 | c.1651A>C (p.Ser551Arg) c.372+2893A>C (n.372+2893A>C) | |
5 | g.149981244A>G | CA361708316 | SLC26A2 | c.1651A>G (p.Ser551Gly) c.372+2893A>G (n.372+2893A>G) | |
5 | g.149981244A>T | CA361708317 | SLC26A2 | c.1651A>T (p.Ser551Cys) c.372+2893A>T (n.372+2893A>T) | gnomAD v4 |
5 | g.149981245G>A | CA361708319 | SLC26A2 | c.1652G>A (p.Ser551Asn) c.372+2894G>A (n.372+2894G>A) | |
5 | g.149981245G>C | CA361708320 | SLC26A2 | c.1652G>C (p.Ser551Thr) c.372+2894G>C (n.372+2894G>C) | |
5 | g.149981245G>T | CA361708321 | SLC26A2 | c.1652G>T (p.Ser551Ile) c.372+2894G>T (n.372+2894G>T) | |
5 | g.149981246T>A | CA361708322 | SLC26A2 | c.1653T>A (p.Ser551Arg) c.372+2895T>A (n.372+2895T>A) | |
5 | g.149981246T>C | CA447402817 | SLC26A2 | c.1653T>C (p.Ser551=) c.372+2895T>C (n.372+2895T>C) | gnomAD v4 |
5 | g.149981246T>G | CA361708323 | SLC26A2 | c.1653T>G (p.Ser551Arg) c.372+2895T>G (n.372+2895T>G) | |
5 | g.149981247del | CA2675943652 | SLC26A2 | c.1654del (p.Ser552HisfsTer?) c.372+2896del (n.372+2896del) | gnomAD v4 |
5 | g.149981247T>A | CA361708324 | SLC26A2 | c.1654T>A (p.Ser552Thr) c.372+2896T>A (n.372+2896T>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149981247T>C | CA361708325 | SLC26A2 | c.1654T>C (p.Ser552Pro) c.372+2896T>C (n.372+2896T>C) | |
5 | g.149981247T>G | CA361708326 | SLC26A2 | c.1654T>G (p.Ser552Ala) c.372+2896T>G (n.372+2896T>G) | |
5 | g.149981247T= | CA1590738703 | SLC26A2 | c.1654T= (p.Ser552=) c.372+2896T= (n.372+2896T=) | |
5 | g.149981248C>A | CA361708329 | SLC26A2 | c.1655C>A (p.Ser552Ter) c.372+2897C>A (n.372+2897C>A) | ClinVar dbSNP |
5 | g.149981248C= | CA1590738704 | SLC26A2 | c.1655C= (p.Ser552=) c.372+2897C= (n.372+2897C=) | |
5 | g.149981248C>G | CA361708327 | SLC26A2 | c.1655C>G (p.Ser552Ter) c.372+2897C>G (n.372+2897C>G) | gnomAD v4 |
5 | g.149981248C>T | CA361708328 | SLC26A2 | c.1655C>T (p.Ser552Leu) c.372+2897C>T (n.372+2897C>T) | ClinVar dbSNP gnomAD v4 |
5 | g.149981249A= | CA1590738705 | SLC26A2 | c.1656A= (p.Ser552=) c.372+2898A= (n.372+2898A=) | |
5 | g.149981249A>C | CA447402821 | SLC26A2 | c.1656A>C (p.Ser552=) c.372+2898A>C (n.372+2898A>C) | |
5 | g.149981249A>G | CA129084549 | SLC26A2 | c.1656A>G (p.Ser552=) c.372+2898A>G (n.372+2898A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.149981249A>T | CA447402823 | SLC26A2 | c.1656A>T (p.Ser552=) c.372+2898A>T (n.372+2898A>T) | |
5 | g.149981250C>A | CA361708330 | SLC26A2 | c.1657C>A (p.Leu553Met) c.372+2899C>A (n.372+2899C>A) | |
5 | g.149981250C>G | CA361708331 | SLC26A2 | c.1657C>G (p.Leu553Val) c.372+2899C>G (n.372+2899C>G) | |
5 | g.149981250C>T | CA447402826 | SLC26A2 | c.1657C>T (p.Leu553=) c.372+2899C>T (n.372+2899C>T) | dbSNP |
5 | g.149981251T>A | CA361708332 | SLC26A2 | c.1658T>A (p.Leu553Gln) c.372+2900T>A (n.372+2900T>A) | |
5 | g.149981251T>C | CA361708333 | SLC26A2 | c.1658T>C (p.Leu553Pro) c.372+2900T>C (n.372+2900T>C) | |
5 | g.149981251T>G | CA361708334 | SLC26A2 | c.1658T>G (p.Leu553Arg) c.372+2900T>G (n.372+2900T>G) | |
5 | g.149981252G>A | CA447402827 | SLC26A2 | c.1659G>A (p.Leu553=) c.372+2901G>A (n.372+2901G>A) | |
5 | g.149981252G>C | CA447402828 | SLC26A2 | c.1659G>C (p.Leu553=) c.372+2901G>C (n.372+2901G>C) |