Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149980410_149980411delinsCT | CA1590738348 | SLC26A2 | c.817_818delinsCT (p.Leu273=) c.372+2059_372+2060delinsCT (n.372+2059_372+2060delinsCT) | |
5 | g.149980411T>A | CA361706362 | SLC26A2 | c.818T>A (p.Leu273His) c.372+2060T>A (n.372+2060T>A) | |
5 | g.149980411T>C | CA361706363 | SLC26A2 | c.818T>C (p.Leu273Pro) c.372+2060T>C (n.372+2060T>C) | |
5 | g.149980411T>G | CA361706364 | SLC26A2 | c.818T>G (p.Leu273Arg) c.372+2060T>G (n.372+2060T>G) | |
5 | g.149980412del | CA3505328 | SLC26A2 | c.819del (p.Leu275SerfsTer?) c.372+2061del (n.372+2061del) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.149980412T>A | CA447402154 | SLC26A2 | c.819T>A (p.Leu273=) c.372+2061T>A (n.372+2061T>A) | |
5 | g.149980412T>C | CA447402155 | SLC26A2 | c.819T>C (p.Leu273=) c.372+2061T>C (n.372+2061T>C) | gnomAD v4 |
5 | g.149980412T>G | CA447402156 | SLC26A2 | c.819T>G (p.Leu273=) c.372+2061T>G (n.372+2061T>G) | |
5 | g.149980413G>A | CA361706366 | SLC26A2 | c.820G>A (p.Gly274Arg) c.372+2062G>A (n.372+2062G>A) | |
5 | g.149980413G>C | CA361706367 | SLC26A2 | c.820G>C (p.Gly274Arg) c.372+2062G>C (n.372+2062G>C) | |
5 | g.149980413G>T | CA361706365 | SLC26A2 | c.820G>T (p.Gly274Trp) c.372+2062G>T (n.372+2062G>T) | |
5 | g.149980415del | CA2695198771 | SLC26A2 | c.822del (p.Leu275SerfsTer?) c.372+2064del (n.372+2064del) | ClinVar |
5 | g.149980414G>A | CA361706369 | SLC26A2 | c.821G>A (p.Gly274Glu) c.372+2063G>A (n.372+2063G>A) | |
5 | g.149980414G>C | CA361706368 | SLC26A2 | c.821G>C (p.Gly274Ala) c.372+2063G>C (n.372+2063G>C) | |
5 | g.149980414G>T | CA361706370 | SLC26A2 | c.821G>T (p.Gly274Val) c.372+2063G>T (n.372+2063G>T) | |
5 | g.149980415G>A | CA447402161 | SLC26A2 | c.822G>A (p.Gly274=) c.372+2064G>A (n.372+2064G>A) | |
5 | g.149980415G>C | CA447402159 | SLC26A2 | c.822G>C (p.Gly274=) c.372+2064G>C (n.372+2064G>C) | |
5 | g.149980415G>T | CA447402157 | SLC26A2 | c.822G>T (p.Gly274=) c.372+2064G>T (n.372+2064G>T) | gnomAD v4 |
5 | g.149980416C>A | CA361706371 | SLC26A2 | c.823C>A (p.Leu275Ile) c.372+2065C>A (n.372+2065C>A) | gnomAD v4 |
5 | g.149980416C= | CA1590738349 | SLC26A2 | c.823C= (p.Leu275=) c.372+2065C= (n.372+2065C=) | |
5 | g.149980416C>G | CA361706372 | SLC26A2 | c.823C>G (p.Leu275Val) c.372+2065C>G (n.372+2065C>G) | dbSNP |
5 | g.149980416C>T | CA3505329 | SLC26A2 | c.823C>T (p.Leu275Phe) c.372+2065C>T (n.372+2065C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980417T>A | CA361706373 | SLC26A2 | c.824T>A (p.Leu275His) c.372+2066T>A (n.372+2066T>A) | gnomAD v4 |
5 | g.149980417T>C | CA361706374 | SLC26A2 | c.824T>C (p.Leu275Pro) c.372+2066T>C (n.372+2066T>C) | gnomAD v4 |
5 | g.149980417T>G | CA361706375 | SLC26A2 | c.824T>G (p.Leu275Arg) c.372+2066T>G (n.372+2066T>G) | |
5 | g.149980418C>A | CA447402164 | SLC26A2 | c.825C>A (p.Leu275=) c.372+2067C>A (n.372+2067C>A) | |
5 | g.149980418C= | CA1590738350 | SLC26A2 | c.825C= (p.Leu275=) c.372+2067C= (n.372+2067C=) | |
5 | g.149980418C>G | CA447402165 | SLC26A2 | c.825C>G (p.Leu275=) c.372+2067C>G (n.372+2067C>G) | |
5 | g.149980418C>T | CA447402166 | SLC26A2 | c.825C>T (p.Leu275=) c.372+2067C>T (n.372+2067C>T) | dbSNP gnomAD v4 |
5 | g.149980419A>C | CA361706376 | SLC26A2 | c.826A>C (p.Asn276His) c.372+2068A>C (n.372+2068A>C) | |
5 | g.149980419A>G | CA361706377 | SLC26A2 | c.826A>G (p.Asn276Asp) c.372+2068A>G (n.372+2068A>G) | |
5 | g.149980419A>T | CA361706378 | SLC26A2 | c.826A>T (p.Asn276Tyr) c.372+2068A>T (n.372+2068A>T) | |
5 | g.149980420A= | CA1590738351 | SLC26A2 | c.827A= (p.Asn276=) c.372+2069A= (n.372+2069A=) | |
5 | g.149980420A>C | CA361706379 | SLC26A2 | c.827A>C (p.Asn276Thr) c.372+2069A>C (n.372+2069A>C) | |
5 | g.149980420A>G | CA3505330 | SLC26A2 | c.827A>G (p.Asn276Ser) c.372+2069A>G (n.372+2069A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980420A>T | CA361706380 | SLC26A2 | c.827A>T (p.Asn276Ile) c.372+2069A>T (n.372+2069A>T) | |
5 | g.149980421C>A | CA3505331 | SLC26A2 | c.828C>A (p.Asn276Lys) c.372+2070C>A (n.372+2070C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980421C= | CA1590738352 | SLC26A2 | c.828C= (p.Asn276=) c.372+2070C= (n.372+2070C=) | |
5 | g.149980421C>G | CA361706381 | SLC26A2 | c.828C>G (p.Asn276Lys) c.372+2070C>G (n.372+2070C>G) | |
5 | g.149980421C>T | CA447402169 | SLC26A2 | c.828C>T (p.Asn276=) c.372+2070C>T (n.372+2070C>T) | gnomAD v4 |
5 | g.149980422C>A | CA361706384 | SLC26A2 | c.829C>A (p.Leu277Ile) c.372+2071C>A (n.372+2071C>A) | |
5 | g.149980422C>G | CA361706383 | SLC26A2 | c.829C>G (p.Leu277Val) c.372+2071C>G (n.372+2071C>G) | |
5 | g.149980422C>T | CA361706382 | SLC26A2 | c.829C>T (p.Leu277Phe) c.372+2071C>T (n.372+2071C>T) | |
5 | g.149980423T>A | CA361706385 | SLC26A2 | c.830T>A (p.Leu277His) c.372+2072T>A (n.372+2072T>A) | |
5 | g.149980423T>C | CA361706386 | SLC26A2 | c.830T>C (p.Leu277Pro) c.372+2072T>C (n.372+2072T>C) | |
5 | g.149980423T>G | CA361706387 | SLC26A2 | c.830T>G (p.Leu277Arg) c.372+2072T>G (n.372+2072T>G) | |
5 | g.149980424T>A | CA447402171 | SLC26A2 | c.831T>A (p.Leu277=) c.372+2073T>A (n.372+2073T>A) | |
5 | g.149980424T>C | CA447402172 | SLC26A2 | c.831T>C (p.Leu277=) c.372+2073T>C (n.372+2073T>C) | |
5 | g.149980424T>G | CA447402173 | SLC26A2 | c.831T>G (p.Leu277=) c.372+2073T>G (n.372+2073T>G) | gnomAD v4 |
5 | g.149980425C>A | CA361706388 | SLC26A2 | c.832C>A (p.Pro278Thr) c.372+2074C>A (n.372+2074C>A) |