UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar 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) | |
| 5 | g.149980425C= | CA1590738353 | SLC26A2 | c.832C= (p.Pro278=) c.372+2074C= (n.372+2074C=) | |
| 5 | g.149980425C>G | CA361706389 | SLC26A2 | c.832C>G (p.Pro278Ala) c.372+2074C>G (n.372+2074C>G) | |
| 5 | g.149980425C>T | CA3505332 | SLC26A2 | c.832C>T (p.Pro278Ser) c.372+2074C>T (n.372+2074C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980426C>A | CA361706390 | SLC26A2 | c.833C>A (p.Pro278His) c.372+2075C>A (n.372+2075C>A) | |
| 5 | g.149980426C= | CA1590738354 | SLC26A2 | c.833C= (p.Pro278=) c.372+2075C= (n.372+2075C=) | |
| 5 | g.149980426C>G | CA361706391 | SLC26A2 | c.833C>G (p.Pro278Arg) c.372+2075C>G (n.372+2075C>G) | |
| 5 | g.149980426C>T | CA361706392 | SLC26A2 | c.833C>T (p.Pro278Leu) c.372+2075C>T (n.372+2075C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980427T>A | CA447402174 | SLC26A2 | c.834T>A (p.Pro278=) c.372+2076T>A (n.372+2076T>A) | |
| 5 | g.149980427T>C | CA447402175 | SLC26A2 | c.834T>C (p.Pro278=) c.372+2076T>C (n.372+2076T>C) | dbSNP gnomAD v4 |
| 5 | g.149980427T>G | CA447402177 | SLC26A2 | c.834T>G (p.Pro278=) c.372+2076T>G (n.372+2076T>G) | |
| 5 | g.149980428C>A | CA447402178 | SLC26A2 | c.835C>A (p.Arg279=) c.372+2077C>A (n.372+2077C>A) | ClinVar |
| 5 | g.149980428C= | CA1139771935 | SLC26A2 | c.835C= (p.Arg279=) c.372+2077C= (n.372+2077C=) | |
| 5 | g.149980428C>G | CA361706393 | SLC26A2 | c.835C>G (p.Arg279Gly) c.372+2077C>G (n.372+2077C>G) | |
| 5 | g.149980428C>T | CA252990 | SLC26A2 | c.835C>T (p.Arg279Trp) c.372+2077C>T (n.372+2077C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980429G>A | CA3505333 | SLC26A2 | c.836G>A (p.Arg279Gln) c.372+2078G>A (n.372+2078G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980429G>C | CA361706395 | SLC26A2 | c.836G>C (p.Arg279Pro) c.372+2078G>C (n.372+2078G>C) | ClinVar dbSNP |
| 5 | g.149980429G= | CA1590738355 | SLC26A2 | c.836G= (p.Arg279=) c.372+2078G= (n.372+2078G=) | |
| 5 | g.149980429G>T | CA361706394 | SLC26A2 | c.836G>T (p.Arg279Leu) c.372+2078G>T (n.372+2078G>T) | |
| 5 | g.149980430G>A | CA447402179 | SLC26A2 | c.837G>A (p.Arg279=) c.372+2079G>A (n.372+2079G>A) | |
| 5 | g.149980430G>C | CA447402180 | SLC26A2 | c.837G>C (p.Arg279=) c.372+2079G>C (n.372+2079G>C) | |
| 5 | g.149980430G= | CA1590738356 | SLC26A2 | c.837G= (p.Arg279=) c.372+2079G= (n.372+2079G=) | |
| 5 | g.149980430G>T | CA447402181 | SLC26A2 | c.837G>T (p.Arg279=) c.372+2079G>T (n.372+2079G>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980431A>C | CA361706396 | SLC26A2 | c.838A>C (p.Thr280Pro) c.372+2080A>C (n.372+2080A>C) | |
| 5 | g.149980431A>G | CA361706397 | SLC26A2 | c.838A>G (p.Thr280Ala) c.372+2080A>G (n.372+2080A>G) | |
| 5 | g.149980431A>T | CA361706398 | SLC26A2 | c.838A>T (p.Thr280Ser) c.372+2080A>T (n.372+2080A>T) | |
| 5 | g.149980435_149980458del | CA2573139274 | SLC26A2 | c.842_865del (p.Asn281_Thr288del) c.372+2084_372+2107del (n.372+2084_372+2107del) | ClinVar dbSNP |
| 5 | g.149980432C>A | CA361706399 | SLC26A2 | c.839C>A (p.Thr280Asn) c.372+2081C>A (n.372+2081C>A) | |
| 5 | g.149980432C= | CA1590738357 | SLC26A2 | c.839C= (p.Thr280=) c.372+2081C= (n.372+2081C=) | |
| 5 | g.149980432C>G | CA361706400 | SLC26A2 | c.839C>G (p.Thr280Ser) c.372+2081C>G (n.372+2081C>G) | |
| 5 | g.149980432C>T | CA361706401 | SLC26A2 | c.839C>T (p.Thr280Ile) c.372+2081C>T (n.372+2081C>T) | dbSNP gnomAD v4 |
| 5 | g.149980433T>A | CA447402183 | SLC26A2 | c.840T>A (p.Thr280=) c.372+2082T>A (n.372+2082T>A) | |
| 5 | g.149980433T>C | CA447402184 | SLC26A2 | c.840T>C (p.Thr280=) c.372+2082T>C (n.372+2082T>C) | |
| 5 | g.149980433T>G | CA447402185 | SLC26A2 | c.840T>G (p.Thr280=) c.372+2082T>G (n.372+2082T>G) | |
| 5 | g.149980433dup | CA2580073910 | SLC26A2 | c.840dup (p.Asn281Ter) c.372+2082dup (n.372+2082dup) | ClinVar |
| 5 | g.149980434A= | CA1590738358 | SLC26A2 | c.841A= (p.Asn281=) c.372+2083A= (n.372+2083A=) | |
| 5 | g.149980434A>C | CA361706402 | SLC26A2 | c.841A>C (p.Asn281His) c.372+2083A>C (n.372+2083A>C) | ClinVar dbSNP |
| 5 | g.149980434A>G | CA361706403 | SLC26A2 | c.841A>G (p.Asn281Asp) c.372+2083A>G (n.372+2083A>G) | gnomAD v4 |
| 5 | g.149980434A>T | CA361706404 | SLC26A2 | c.841A>T (p.Asn281Tyr) c.372+2083A>T (n.372+2083A>T) | |
| 5 | g.149980435A= | CA1590738359 | SLC26A2 | c.842A= (p.Asn281=) c.372+2084A= (n.372+2084A=) | |
| 5 | g.149980435A>C | CA361706405 | SLC26A2 | c.842A>C (p.Asn281Thr) c.372+2084A>C (n.372+2084A>C) | |
| 5 | g.149980435A>G | CA129083824 | SLC26A2 | c.842A>G (p.Asn281Ser) c.372+2084A>G (n.372+2084A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980435A>T | CA361706406 | SLC26A2 | c.842A>T (p.Asn281Ile) c.372+2084A>T (n.372+2084A>T) | |
| 5 | g.149980436T>A | CA361706408 | SLC26A2 | c.843T>A (p.Asn281Lys) c.372+2085T>A (n.372+2085T>A) | |
| 5 | g.149980436T>C | CA447402187 | SLC26A2 | c.843T>C (p.Asn281=) c.372+2085T>C (n.372+2085T>C) | dbSNP |
| 5 | g.149980436T>G | CA361706407 | SLC26A2 | c.843T>G (p.Asn281Lys) c.372+2085T>G (n.372+2085T>G) | |
| 5 | g.149980436T= | CA1590738360 | SLC26A2 | c.843T= (p.Asn281=) c.372+2085T= (n.372+2085T=) | |
| 5 | g.149980437G>A | CA361706409 | SLC26A2 | c.844G>A (p.Gly282Ser) c.372+2086G>A (n.372+2086G>A) | |
| 5 | g.149980437G>C | CA3505334 | SLC26A2 | c.844G>C (p.Gly282Arg) c.372+2086G>C (n.372+2086G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980437G= | CA1590738361 | SLC26A2 | c.844G= (p.Gly282=) c.372+2086G= (n.372+2086G=) | |
| 5 | g.149980437G>T | CA129083833 | SLC26A2 | c.844G>T (p.Gly282Cys) c.372+2086G>T (n.372+2086G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980438G>A | CA361706410 | SLC26A2 | c.845G>A (p.Gly282Asp) c.372+2087G>A (n.372+2087G>A) | ClinVar gnomAD v4 |
| 5 | g.149980438G>C | CA361706411 | SLC26A2 | c.845G>C (p.Gly282Ala) c.372+2087G>C (n.372+2087G>C) | |
| 5 | g.149980438G= | CA1590738362 | SLC26A2 | c.845G= (p.Gly282=) c.372+2087G= (n.372+2087G=) | |
| 5 | g.149980438G>T | CA361706412 | SLC26A2 | c.845G>T (p.Gly282Val) c.372+2087G>T (n.372+2087G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980439T>A | CA447402193 | SLC26A2 | c.846T>A (p.Gly282=) c.372+2088T>A (n.372+2088T>A) | |
| 5 | g.149980439T>C | CA447402195 | SLC26A2 | c.846T>C (p.Gly282=) c.372+2088T>C (n.372+2088T>C) | ClinVar |
| 5 | g.149980439T>G | CA447402196 | SLC26A2 | c.846T>G (p.Gly282=) c.372+2088T>G (n.372+2088T>G) | gnomAD v4 |
| 5 | g.149980440G>A | CA361706413 | SLC26A2 | c.847G>A (p.Val283Met) c.372+2089G>A (n.372+2089G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980440G>C | CA361706414 | SLC26A2 | c.847G>C (p.Val283Leu) c.372+2089G>C (n.372+2089G>C) | |
| 5 | g.149980440G= | CA1590738363 | SLC26A2 | c.847G= (p.Val283=) c.372+2089G= (n.372+2089G=) | |
| 5 | g.149980440G>T | CA361706415 | SLC26A2 | c.847G>T (p.Val283Leu) c.372+2089G>T (n.372+2089G>T) | |
| 5 | g.149980441T>A | CA361706416 | SLC26A2 | c.848T>A (p.Val283Glu) c.372+2090T>A (n.372+2090T>A) | |
| 5 | g.149980441T>C | CA361706417 | SLC26A2 | c.848T>C (p.Val283Ala) c.372+2090T>C (n.372+2090T>C) | dbSNP |
| 5 | g.149980441T>G | CA361706418 | SLC26A2 | c.848T>G (p.Val283Gly) c.372+2090T>G (n.372+2090T>G) | |
| 5 | g.149980441T= | CA1590738365 | SLC26A2 | c.848T= (p.Val283=) c.372+2090T= (n.372+2090T=) | |
| 5 | g.149980441_149980442delinsTG | CA1590738364 | SLC26A2 | c.848_849delinsTG (p.Val283=) c.372+2090_372+2091delinsTG (n.372+2090_372+2091delinsTG) | |
| 5 | g.149980442G>A | CA447402202 | SLC26A2 | c.849G>A (p.Val283=) c.372+2091G>A (n.372+2091G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980442G>C | CA447402199 | SLC26A2 | c.849G>C (p.Val283=) c.372+2091G>C (n.372+2091G>C) | |
| 5 | g.149980442G= | CA1590738366 | SLC26A2 | c.849G= (p.Val283=) c.372+2091G= (n.372+2091G=) | |
| 5 | g.149980442G>T | CA447402200 | SLC26A2 | c.849G>T (p.Val283=) c.372+2091G>T (n.372+2091G>T) | |
| 5 | g.149980444del | CA3505335 | SLC26A2 | c.851del (p.Gly284AlafsTer?) c.372+2093del (n.372+2093del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980443G>A | CA361706420 | SLC26A2 | c.850G>A (p.Gly284Ser) c.372+2092G>A (n.372+2092G>A) | |
| 5 | g.149980443G>C | CA361706421 | SLC26A2 | c.850G>C (p.Gly284Arg) c.372+2092G>C (n.372+2092G>C) | |
| 5 | g.149980443G>T | CA361706419 | SLC26A2 | c.850G>T (p.Gly284Cys) c.372+2092G>T (n.372+2092G>T) | |
| 5 | g.149980444G>A | CA3505336 | SLC26A2 | c.851G>A (p.Gly284Asp) c.372+2093G>A (n.372+2093G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980444G>C | CA361706422 | SLC26A2 | c.851G>C (p.Gly284Ala) c.372+2093G>C (n.372+2093G>C) | |
| 5 | g.149980444G= | CA1590738367 | SLC26A2 | c.851G= (p.Gly284=) c.372+2093G= (n.372+2093G=) | |
| 5 | g.149980444G>T | CA361706423 | SLC26A2 | c.851G>T (p.Gly284Val) c.372+2093G>T (n.372+2093G>T) | |
| 5 | g.149980445C>A | CA447402203 | SLC26A2 | c.852C>A (p.Gly284=) c.372+2094C>A (n.372+2094C>A) | |
| 5 | g.149980445C>G | CA447402204 | SLC26A2 | c.852C>G (p.Gly284=) c.372+2094C>G (n.372+2094C>G) | |
| 5 | g.149980445C>T | CA447402205 | SLC26A2 | c.852C>T (p.Gly284=) c.372+2094C>T (n.372+2094C>T) | |
| 5 | g.149980446T>A | CA361706424 | SLC26A2 | c.853T>A (p.Ser285Thr) c.372+2095T>A (n.372+2095T>A) | |
| 5 | g.149980446T>C | CA361706425 | SLC26A2 | c.853T>C (p.Ser285Pro) c.372+2095T>C (n.372+2095T>C) | |
| 5 | g.149980446T>G | CA361706426 | SLC26A2 | c.853T>G (p.Ser285Ala) c.372+2095T>G (n.372+2095T>G) | |
| 5 | g.149980447C>A | CA3505337 | SLC26A2 | c.854C>A (p.Ser285Ter) c.372+2096C>A (n.372+2096C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980447C= | CA1590738368 | SLC26A2 | c.854C= (p.Ser285=) c.372+2096C= (n.372+2096C=) | |
| 5 | g.149980447C>G | CA361706427 | SLC26A2 | c.854C>G (p.Ser285Ter) c.372+2096C>G (n.372+2096C>G) | |
| 5 | g.149980447C>T | CA361706428 | SLC26A2 | c.854C>T (p.Ser285Leu) c.372+2096C>T (n.372+2096C>T) | ClinVar dbSNP |
| 5 | g.149980448A= | CA1590738369 | SLC26A2 | c.855A= (p.Ser285=) c.372+2097A= (n.372+2097A=) | |
| 5 | g.149980448A>C | CA3505338 | SLC26A2 | c.855A>C (p.Ser285=) c.372+2097A>C (n.372+2097A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980448A>G | CA447402208 | SLC26A2 | c.855A>G (p.Ser285=) c.372+2097A>G (n.372+2097A>G) | |
| 5 | g.149980448A>T | CA447402209 | SLC26A2 | c.855A>T (p.Ser285=) c.372+2097A>T (n.372+2097A>T) | |
| 5 | g.149980449C>A | CA361706429 | SLC26A2 | c.856C>A (p.Leu286Ile) c.372+2098C>A (n.372+2098C>A) | |
| 5 | g.149980449C= | CA1590738370 | SLC26A2 | c.856C= (p.Leu286=) c.372+2098C= (n.372+2098C=) | |
| 5 | g.149980449C>G | CA361706430 | SLC26A2 | c.856C>G (p.Leu286Val) c.372+2098C>G (n.372+2098C>G) | |
| 5 | g.149980449C>T | CA3505339 | SLC26A2 | c.856C>T (p.Leu286Phe) c.372+2098C>T (n.372+2098C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980450_149980451del | CA2605374086 | SLC26A2 | c.857_858del (p.Leu286HisfsTer13) c.372+2099_372+2100del (n.372+2099_372+2100del) | gnomAD v3 gnomAD v4 |
| 5 | g.149980449_149980452delinsCTCA | CA1590738371 | SLC26A2 | c.856_859delinsCTCA (p.Leu286=) c.372+2098_372+2101delinsCTCA (n.372+2098_372+2101delinsCTCA) | |
| 5 | g.149980450T>A | CA361706433 | SLC26A2 | c.857T>A (p.Leu286His) c.372+2099T>A (n.372+2099T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980450T>C | CA361706432 | SLC26A2 | c.857T>C (p.Leu286Pro) c.372+2099T>C (n.372+2099T>C) | |
| 5 | g.149980450T>G | CA361706431 | SLC26A2 | c.857T>G (p.Leu286Arg) c.372+2099T>G (n.372+2099T>G) | |
| 5 | g.149980450T= | CA1590738372 | SLC26A2 | c.857T= (p.Leu286=) c.372+2099T= (n.372+2099T=) | |
| 5 | g.149980453_149980455del | CA805557743 | SLC26A2 | c.860_862del (p.Ile287del) c.372+2102_372+2104del (n.372+2102_372+2104del) | dbSNP |
| 5 | g.149980451C>A | CA447402211 | SLC26A2 | c.858C>A (p.Leu286=) c.372+2100C>A (n.372+2100C>A) | ClinVar gnomAD v4 |
| 5 | g.149980451C= | CA1590738373 | SLC26A2 | c.858C= (p.Leu286=) c.372+2100C= (n.372+2100C=) | |
| 5 | g.149980451C>G | CA447402212 | SLC26A2 | c.858C>G (p.Leu286=) c.372+2100C>G (n.372+2100C>G) | |
| 5 | g.149980451C>T | CA3505340 | SLC26A2 | c.858C>T (p.Leu286=) c.372+2100C>T (n.372+2100C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980452A= | CA1590738374 | SLC26A2 | c.859A= (p.Ile287=) c.372+2101A= (n.372+2101A=) | |
| 5 | g.149980452A>C | CA3505341 | SLC26A2 | c.859A>C (p.Ile287Leu) c.372+2101A>C (n.372+2101A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980452A>G | CA361706434 | SLC26A2 | c.859A>G (p.Ile287Val) c.372+2101A>G (n.372+2101A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980452A>T | CA361706435 | SLC26A2 | c.859A>T (p.Ile287Phe) c.372+2101A>T (n.372+2101A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980453del | CA2605374087 | SLC26A2 | c.860del (p.Ile287ThrfsTer?) c.372+2102del (n.372+2102del) | gnomAD v3 gnomAD v4 |
| 5 | g.149980453T>A | CA129083851 | SLC26A2 | c.860T>A (p.Ile287Asn) c.372+2102T>A (n.372+2102T>A) | dbSNP |
| 5 | g.149980453T>C | CA3505342 | SLC26A2 | c.860T>C (p.Ile287Thr) c.372+2102T>C (n.372+2102T>C) | dbSNP ExAC gnomAD v2 |
| 5 | g.149980453T>G | CA361706436 | SLC26A2 | c.860T>G (p.Ile287Ser) c.372+2102T>G (n.372+2102T>G) | |
| 5 | g.149980453T= | CA1590738375 | SLC26A2 | c.860T= (p.Ile287=) c.372+2102T= (n.372+2102T=) | |
| 5 | g.149980454C>A | CA447402215 | SLC26A2 | c.861C>A (p.Ile287=) c.372+2103C>A (n.372+2103C>A) | |
| 5 | g.149980454C>G | CA361706437 | SLC26A2 | c.861C>G (p.Ile287Met) c.372+2103C>G (n.372+2103C>G) | |
| 5 | g.149980454C>T | CA447402216 | SLC26A2 | c.861C>T (p.Ile287=) c.372+2103C>T (n.372+2103C>T) | |
| 5 | g.149980455A= | CA1590738376 | SLC26A2 | c.862A= (p.Thr288=) c.372+2104A= (n.372+2104A=) | |
| 5 | g.149980455A>C | CA361706438 | SLC26A2 | c.862A>C (p.Thr288Pro) c.372+2104A>C (n.372+2104A>C) | |
| 5 | g.149980455A>G | CA3505343 | SLC26A2 | c.862A>G (p.Thr288Ala) c.372+2104A>G (n.372+2104A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980455A>T | CA361706439 | SLC26A2 | c.862A>T (p.Thr288Ser) c.372+2104A>T (n.372+2104A>T) | |
| 5 | g.149980456C>A | CA361706440 | SLC26A2 | c.863C>A (p.Thr288Asn) c.372+2105C>A (n.372+2105C>A) | |
| 5 | g.149980456C>G | CA361706441 | SLC26A2 | c.863C>G (p.Thr288Ser) c.372+2105C>G (n.372+2105C>G) | |
| 5 | g.149980456C>T | CA361706442 | SLC26A2 | c.863C>T (p.Thr288Ile) c.372+2105C>T (n.372+2105C>T) | |
| 5 | g.149980457T>A | CA447402222 | SLC26A2 | c.864T>A (p.Thr288=) c.372+2106T>A (n.372+2106T>A) | |
| 5 | g.149980457T>C | CA447402221 | SLC26A2 | c.864T>C (p.Thr288=) c.372+2106T>C (n.372+2106T>C) | ClinVar |
| 5 | g.149980457T>G | CA447402220 | SLC26A2 | c.864T>G (p.Thr288=) c.372+2106T>G (n.372+2106T>G) | |
| 5 | g.149980458A= | CA1590738377 | SLC26A2 | c.865A= (p.Thr289=) c.372+2107A= (n.372+2107A=) | |
| 5 | g.149980458A>C | CA361706444 | SLC26A2 | c.865A>C (p.Thr289Pro) c.372+2107A>C (n.372+2107A>C) | |
| 5 | g.149980458A>G | CA361706445 | SLC26A2 | c.865A>G (p.Thr289Ala) c.372+2107A>G (n.372+2107A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980458A>T | CA361706443 | SLC26A2 | c.865A>T (p.Thr289Ser) c.372+2107A>T (n.372+2107A>T) | |
| 5 | g.149980459C>A | CA361706446 | SLC26A2 | c.866C>A (p.Thr289Asn) c.372+2108C>A (n.372+2108C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980459C= | CA1590738378 | SLC26A2 | c.866C= (p.Thr289=) c.372+2108C= (n.372+2108C=) | |
| 5 | g.149980459C>G | CA361706447 | SLC26A2 | c.866C>G (p.Thr289Ser) c.372+2108C>G (n.372+2108C>G) | gnomAD v4 |
| 5 | g.149980459C>T | CA361706448 | SLC26A2 | c.866C>T (p.Thr289Ile) c.372+2108C>T (n.372+2108C>T) | gnomAD v4 |
| 5 | g.149980460C>A | CA447402226 | SLC26A2 | c.867C>A (p.Thr289=) c.372+2109C>A (n.372+2109C>A) | |
| 5 | g.149980460C= | CA1590738379 | SLC26A2 | c.867C= (p.Thr289=) c.372+2109C= (n.372+2109C=) | |
| 5 | g.149980460C>G | CA447402227 | SLC26A2 | c.867C>G (p.Thr289=) c.372+2109C>G (n.372+2109C>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980460C>T | CA447402229 | SLC26A2 | c.867C>T (p.Thr289=) c.372+2109C>T (n.372+2109C>T) | |
| 5 | g.149980461T>A | CA361706449 | SLC26A2 | c.868T>A (p.Trp290Arg) c.372+2110T>A (n.372+2110T>A) | |
| 5 | g.149980461T>C | CA361706450 | SLC26A2 | c.868T>C (p.Trp290Arg) c.372+2110T>C (n.372+2110T>C) | |
| 5 | g.149980461T>G | CA361706451 | SLC26A2 | c.868T>G (p.Trp290Gly) c.372+2110T>G (n.372+2110T>G) | |
| 5 | g.149980461_149980462del | CA913108446 | SLC26A2 | c.868_869del (p.Trp290AspfsTer9) c.372+2110_372+2111del (n.372+2110_372+2111del) | |
| 5 | g.149980461_149980462delinsTG | CA1590738380 | SLC26A2 | c.868_869delinsTG (p.Trp290=) c.372+2110_372+2111delinsTG (n.372+2110_372+2111delinsTG) | |
| 5 | g.149980462G>A | CA361706452 | SLC26A2 | c.869G>A (p.Trp290Ter) c.372+2111G>A (n.372+2111G>A) | |
| 5 | g.149980462G>C | CA361706453 | SLC26A2 | c.869G>C (p.Trp290Ser) c.372+2111G>C (n.372+2111G>C) | |
| 5 | g.149980462G>T | CA361706454 | SLC26A2 | c.869G>T (p.Trp290Leu) c.372+2111G>T (n.372+2111G>T) | |
| 5 | g.149980463del | CA658822216 | SLC26A2 | c.870del (p.Trp290Ter) c.372+2112del (n.372+2112del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980463G>A | CA3505344 | SLC26A2 | c.870G>A (p.Trp290Ter) c.372+2112G>A (n.372+2112G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980463G>C | CA361706455 | SLC26A2 | c.870G>C (p.Trp290Cys) c.372+2112G>C (n.372+2112G>C) | |
| 5 | g.149980463G= | CA1590738381 | SLC26A2 | c.870G= (p.Trp290=) c.372+2112G= (n.372+2112G=) | |
| 5 | g.149980463G>T | CA361706456 | SLC26A2 | c.870G>T (p.Trp290Cys) c.372+2112G>T (n.372+2112G>T) | |
| 5 | g.149980464A= | CA1590738382 | SLC26A2 | c.871A= (p.Ile291=) c.372+2113A= (n.372+2113A=) | |
| 5 | g.149980464A>C | CA361706458 | SLC26A2 | c.871A>C (p.Ile291Leu) c.372+2113A>C (n.372+2113A>C) | |
| 5 | g.149980464A>G | CA361706459 | SLC26A2 | c.871A>G (p.Ile291Val) c.372+2113A>G (n.372+2113A>G) | dbSNP gnomAD v4 |
| 5 | g.149980464A>T | CA361706457 | SLC26A2 | c.871A>T (p.Ile291Leu) c.372+2113A>T (n.372+2113A>T) | |
| 5 | g.149980464_149980465insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT | CA3505345 | SLC26A2 | c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT (p.Ile291LysfsTer?) c.372+2113_372+2114insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT (n.372+2113_372+2114insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT) | dbSNP ExAC |
| 5 | g.149980465T>A | CA361706460 | SLC26A2 | c.872T>A (p.Ile291Lys) c.372+2114T>A (n.372+2114T>A) | |
| 5 | g.149980465T>C | CA361706461 | SLC26A2 | c.872T>C (p.Ile291Thr) c.372+2114T>C (n.372+2114T>C) | |
| 5 | g.149980465T>G | CA361706462 | SLC26A2 | c.872T>G (p.Ile291Arg) c.372+2114T>G (n.372+2114T>G) | |
| 5 | g.149980466A= | CA1590738383 | SLC26A2 | c.873A= (p.Ile291=) c.372+2115A= (n.372+2115A=) | |
| 5 | g.149980466A>C | CA447402233 | SLC26A2 | c.873A>C (p.Ile291=) c.372+2115A>C (n.372+2115A>C) | |
| 5 | g.149980466A>G | CA361706463 | SLC26A2 | c.873A>G (p.Ile291Met) c.372+2115A>G (n.372+2115A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980466A>T | CA447402235 | SLC26A2 | c.873A>T (p.Ile291=) c.372+2115A>T (n.372+2115A>T) | |
| 5 | g.149980467C>A | CA361706465 | SLC26A2 | c.874C>A (p.His292Asn) c.372+2116C>A (n.372+2116C>A) | |
| 5 | g.149980467C= | CA1590738384 | SLC26A2 | c.874C= (p.His292=) c.372+2116C= (n.372+2116C=) | |
| 5 | g.149980467C>G | CA361706464 | SLC26A2 | c.874C>G (p.His292Asp) c.372+2116C>G (n.372+2116C>G) | |
| 5 | g.149980467C>T | CA3505346 | SLC26A2 | c.874C>T (p.His292Tyr) c.372+2116C>T (n.372+2116C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980468A= | CA1590738385 | SLC26A2 | c.875A= (p.His292=) c.372+2117A= (n.372+2117A=) | |
| 5 | g.149980468A>C | CA361706466 | SLC26A2 | c.875A>C (p.His292Pro) c.372+2117A>C (n.372+2117A>C) | |
| 5 | g.149980468A>G | CA3505347 | SLC26A2 | c.875A>G (p.His292Arg) c.372+2117A>G (n.372+2117A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980468A>T | CA361706467 | SLC26A2 | c.875A>T (p.His292Leu) c.372+2117A>T (n.372+2117A>T) | dbSNP |
| 5 | g.149980469T>A | CA361706468 | SLC26A2 | c.876T>A (p.His292Gln) c.372+2118T>A (n.372+2118T>A) | |
| 5 | g.149980469T>C | CA447402238 | SLC26A2 | c.876T>C (p.His292=) c.372+2118T>C (n.372+2118T>C) | ClinVar dbSNP |
| 5 | g.149980469T>G | CA361706469 | SLC26A2 | c.876T>G (p.His292Gln) c.372+2118T>G (n.372+2118T>G) | |
| 5 | g.149980469T= | CA1590738386 | SLC26A2 | c.876T= (p.His292=) c.372+2118T= (n.372+2118T=) | |
| 5 | g.149980470G>A | CA129083881 | SLC26A2 | c.877G>A (p.Val293Ile) c.372+2119G>A (n.372+2119G>A) | dbSNP |
| 5 | g.149980470G>C | CA361706471 | SLC26A2 | c.877G>C (p.Val293Leu) c.372+2119G>C (n.372+2119G>C) | |
| 5 | g.149980470G= | CA1590738387 | SLC26A2 | c.877G= (p.Val293=) c.372+2119G= (n.372+2119G=) | |
| 5 | g.149980470G>T | CA361706470 | SLC26A2 | c.877G>T (p.Val293Phe) c.372+2119G>T (n.372+2119G>T) | |
| 5 | g.149980471T>A | CA361706472 | SLC26A2 | c.878T>A (p.Val293Asp) c.372+2120T>A (n.372+2120T>A) | |
| 5 | g.149980471T>C | CA361706474 | SLC26A2 | c.878T>C (p.Val293Ala) c.372+2120T>C (n.372+2120T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980471T>G | CA361706473 | SLC26A2 | c.878T>G (p.Val293Gly) c.372+2120T>G (n.372+2120T>G) | |
| 5 | g.149980471T= | CA1590738388 | SLC26A2 | c.878T= (p.Val293=) c.372+2120T= (n.372+2120T=) | |
| 5 | g.149980472C>A | CA447402241 | SLC26A2 | c.879C>A (p.Val293=) c.372+2121C>A (n.372+2121C>A) | |
| 5 | g.149980472C>G | CA447402242 | SLC26A2 | c.879C>G (p.Val293=) c.372+2121C>G (n.372+2121C>G) | |
| 5 | g.149980472C>T | CA447402243 | SLC26A2 | c.879C>T (p.Val293=) c.372+2121C>T (n.372+2121C>T) | |
| 5 | g.149980473T>A | CA361706475 | SLC26A2 | c.880T>A (p.Phe294Ile) c.372+2122T>A (n.372+2122T>A) | |
| 5 | g.149980473T>C | CA361706477 | SLC26A2 | c.880T>C (p.Phe294Leu) c.372+2122T>C (n.372+2122T>C) | |
| 5 | g.149980473T>G | CA361706476 | SLC26A2 | c.880T>G (p.Phe294Val) c.372+2122T>G (n.372+2122T>G) | |
| 5 | g.149980474T>A | CA361706478 | SLC26A2 | c.881T>A (p.Phe294Tyr) c.372+2123T>A (n.372+2123T>A) | |
| 5 | g.149980474T>C | CA361706479 | SLC26A2 | c.881T>C (p.Phe294Ser) c.372+2123T>C (n.372+2123T>C) | gnomAD v4 |
| 5 | g.149980474T>G | CA361706480 | SLC26A2 | c.881T>G (p.Phe294Cys) c.372+2123T>G (n.372+2123T>G) | |
| 5 | g.149980475C>A | CA361706481 | SLC26A2 | c.882C>A (p.Phe294Leu) c.372+2124C>A (n.372+2124C>A) | |
| 5 | g.149980475C= | CA1590738389 | SLC26A2 | c.882C= (p.Phe294=) c.372+2124C= (n.372+2124C=) | |
| 5 | g.149980475C>G | CA361706482 | SLC26A2 | c.882C>G (p.Phe294Leu) c.372+2124C>G (n.372+2124C>G) | |
| 5 | g.149980475C>T | CA3505348 | SLC26A2 | c.882C>T (p.Phe294=) c.372+2124C>T (n.372+2124C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149980476A>C | CA447402244 | SLC26A2 | c.883A>C (p.Arg295=) c.372+2125A>C (n.372+2125A>C) | |
| 5 | g.149980476A>G | CA361706483 | SLC26A2 | c.883A>G (p.Arg295Gly) c.372+2125A>G (n.372+2125A>G) | |
| 5 | g.149980476A>T | CA361706484 | SLC26A2 | c.883A>T (p.Arg295Ter) c.372+2125A>T (n.372+2125A>T) | |
| 5 | g.149980477G>A | CA361706485 | SLC26A2 | c.884G>A (p.Arg295Lys) c.372+2126G>A (n.372+2126G>A) | |
| 5 | g.149980477G>C | CA361706486 | SLC26A2 | c.884G>C (p.Arg295Thr) c.372+2126G>C (n.372+2126G>C) | |
| 5 | g.149980477G>T | CA361706487 | SLC26A2 | c.884G>T (p.Arg295Ile) c.372+2126G>T (n.372+2126G>T) | |
| 5 | g.149980478A>C | CA361706489 | SLC26A2 | c.885A>C (p.Arg295Ser) c.372+2127A>C (n.372+2127A>C) | |
| 5 | g.149980478A>G | CA447402248 | SLC26A2 | c.885A>G (p.Arg295=) c.372+2127A>G (n.372+2127A>G) | |
| 5 | g.149980478A>T | CA361706488 | SLC26A2 | c.885A>T (p.Arg295Ser) c.372+2127A>T (n.372+2127A>T) | |
| 5 | g.149980479A>C | CA361706490 | SLC26A2 | c.886A>C (p.Asn296His) c.372+2128A>C (n.372+2128A>C) | |
| 5 | g.149980479A>G | CA361706491 | SLC26A2 | c.886A>G (p.Asn296Asp) c.372+2128A>G (n.372+2128A>G) | COSMIC |
| 5 | g.149980479A>T | CA361706492 | SLC26A2 | c.886A>T (p.Asn296Tyr) c.372+2128A>T (n.372+2128A>T) | |
| 5 | g.149980480A>C | CA361706493 | SLC26A2 | c.887A>C (p.Asn296Thr) c.372+2129A>C (n.372+2129A>C) | |
| 5 | g.149980480A>G | CA361706494 | SLC26A2 | c.887A>G (p.Asn296Ser) c.372+2129A>G (n.372+2129A>G) | |
| 5 | g.149980480A>T | CA361706495 | SLC26A2 | c.887A>T (p.Asn296Ile) c.372+2129A>T (n.372+2129A>T) | |
| 5 | g.149980481C>A | CA361706496 | SLC26A2 | c.888C>A (p.Asn296Lys) c.372+2130C>A (n.372+2130C>A) | |
| 5 | g.149980481C= | CA1590738390 | SLC26A2 | c.888C= (p.Asn296=) c.372+2130C= (n.372+2130C=) | |
| 5 | g.149980481C>G | CA361706497 | SLC26A2 | c.888C>G (p.Asn296Lys) c.372+2130C>G (n.372+2130C>G) | |
| 5 | g.149980481C>T | CA447402252 | SLC26A2 | c.888C>T (p.Asn296=) c.372+2130C>T (n.372+2130C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980482A>C | CA361706498 | SLC26A2 | c.889A>C (p.Ile297Leu) c.372+2131A>C (n.372+2131A>C) | |
| 5 | g.149980482A>G | CA361706499 | SLC26A2 | c.889A>G (p.Ile297Val) c.372+2131A>G (n.372+2131A>G) | |
| 5 | g.149980482A>T | CA361706500 | SLC26A2 | c.889A>T (p.Ile297Phe) c.372+2131A>T (n.372+2131A>T) | |
| 5 | g.149980483T>A | CA361706503 | SLC26A2 | c.890T>A (p.Ile297Asn) c.372+2132T>A (n.372+2132T>A) | |
| 5 | g.149980483T>C | CA361706502 | SLC26A2 | c.890T>C (p.Ile297Thr) c.372+2132T>C (n.372+2132T>C) | dbSNP gnomAD v4 |
| 5 | g.149980483T>G | CA361706501 | SLC26A2 | c.890T>G (p.Ile297Ser) c.372+2132T>G (n.372+2132T>G) | |
| 5 | g.149980483T= | CA1590738391 | SLC26A2 | c.890T= (p.Ile297=) c.372+2132T= (n.372+2132T=) | |
| 5 | g.149980484C>A | CA447402257 | SLC26A2 | c.891C>A (p.Ile297=) c.372+2133C>A (n.372+2133C>A) | |
| 5 | g.149980484C>G | CA361706504 | SLC26A2 | c.891C>G (p.Ile297Met) c.372+2133C>G (n.372+2133C>G) | |
| 5 | g.149980484C>T | CA447402258 | SLC26A2 | c.891C>T (p.Ile297=) c.372+2133C>T (n.372+2133C>T) | COSMIC |
| 5 | g.149980485del | CA2695198772 | SLC26A2 | c.892del (p.His298IlefsTer?) c.372+2134del (n.372+2134del) | ClinVar |
| 5 | g.149980485C>A | CA129083884 | SLC26A2 | c.892C>A (p.His298Asn) c.372+2134C>A (n.372+2134C>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980485C= | CA1590738392 | SLC26A2 | c.892C= (p.His298=) c.372+2134C= (n.372+2134C=) | |
| 5 | g.149980485C>G | CA361706505 | SLC26A2 | c.892C>G (p.His298Asp) c.372+2134C>G (n.372+2134C>G) | |
| 5 | g.149980485C>T | CA129083889 | SLC26A2 | c.892C>T (p.His298Tyr) c.372+2134C>T (n.372+2134C>T) | dbSNP COSMIC |
| 5 | g.149980486A= | CA1590738393 | SLC26A2 | c.893A= (p.His298=) c.372+2135A= (n.372+2135A=) | |
| 5 | g.149980486A>C | CA361706506 | SLC26A2 | c.893A>C (p.His298Pro) c.372+2135A>C (n.372+2135A>C) | |
| 5 | g.149980486A>G | CA3505349 | SLC26A2 | c.893A>G (p.His298Arg) c.372+2135A>G (n.372+2135A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980486A>T | CA361706507 | SLC26A2 | c.893A>T (p.His298Leu) c.372+2135A>T (n.372+2135A>T) | |
| 5 | g.149980487T>A | CA361706508 | SLC26A2 | c.894T>A (p.His298Gln) c.372+2136T>A (n.372+2136T>A) | |
| 5 | g.149980487T>C | CA447402260 | SLC26A2 | c.894T>C (p.His298=) c.372+2136T>C (n.372+2136T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980487T>G | CA361706509 | SLC26A2 | c.894T>G (p.His298Gln) c.372+2136T>G (n.372+2136T>G) | gnomAD v4 |
| 5 | g.149980487T= | CA1590738395 | SLC26A2 | c.894T= (p.His298=) c.372+2136T= (n.372+2136T=) | |
| 5 | g.149980487_149980488delinsTA | CA1590738394 | SLC26A2 | c.894_895delinsTA (p.His298=) c.372+2136_372+2137delinsTA (n.372+2136_372+2137delinsTA) | |
| 5 | g.149980488A>C | CA361706510 | SLC26A2 | c.895A>C (p.Lys299Gln) c.372+2137A>C (n.372+2137A>C) | |
| 5 | g.149980488A>G | CA361706511 | SLC26A2 | c.895A>G (p.Lys299Glu) c.372+2137A>G (n.372+2137A>G) | ClinVar |
| 5 | g.149980488A>T | CA361706512 | SLC26A2 | c.895A>T (p.Lys299Ter) c.372+2137A>T (n.372+2137A>T) | |
| 5 | g.149980489del | CA563955701 | SLC26A2 | c.896del (p.Lys299ArgfsTer?) c.372+2138del (n.372+2138del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980489A>C | CA361706515 | SLC26A2 | c.896A>C (p.Lys299Thr) c.372+2138A>C (n.372+2138A>C) | |
| 5 | g.149980489A>G | CA361706513 | SLC26A2 | c.896A>G (p.Lys299Arg) c.372+2138A>G (n.372+2138A>G) | gnomAD v4 |
| 5 | g.149980489A>T | CA361706514 | SLC26A2 | c.896A>T (p.Lys299Met) c.372+2138A>T (n.372+2138A>T) | |
| 5 | g.149980490G>A | CA3505350 | SLC26A2 | c.897G>A (p.Lys299=) c.372+2139G>A (n.372+2139G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980490G>C | CA361706516 | SLC26A2 | c.897G>C (p.Lys299Asn) c.372+2139G>C (n.372+2139G>C) | |
| 5 | g.149980490G= | CA1590738396 | SLC26A2 | c.897G= (p.Lys299=) c.372+2139G= (n.372+2139G=) | |
| 5 | g.149980490G>T | CA129083906 | SLC26A2 | c.897G>T (p.Lys299Asn) c.372+2139G>T (n.372+2139G>T) | dbSNP gnomAD v4 |
| 5 | g.149980491A>C | CA361706517 | SLC26A2 | c.898A>C (p.Thr300Pro) c.372+2140A>C (n.372+2140A>C) | |
| 5 | g.149980491A>G | CA361706518 | SLC26A2 | c.898A>G (p.Thr300Ala) c.372+2140A>G (n.372+2140A>G) | |
| 5 | g.149980491A>T | CA361706519 | SLC26A2 | c.898A>T (p.Thr300Ser) c.372+2140A>T (n.372+2140A>T) | |
| 5 | g.149980492C>A | CA361706520 | SLC26A2 | c.899C>A (p.Thr300Asn) c.372+2141C>A (n.372+2141C>A) | |
| 5 | g.149980492C>G | CA361706521 | SLC26A2 | c.899C>G (p.Thr300Ser) c.372+2141C>G (n.372+2141C>G) | |
| 5 | g.149980492C>T | CA361706522 | SLC26A2 | c.899C>T (p.Thr300Ile) c.372+2141C>T (n.372+2141C>T) | COSMIC |
| 5 | g.149980493C>A | CA447402267 | SLC26A2 | c.900C>A (p.Thr300=) c.372+2142C>A (n.372+2142C>A) | |
| 5 | g.149980493C>G | CA447402268 | SLC26A2 | c.900C>G (p.Thr300=) c.372+2142C>G (n.372+2142C>G) | |
| 5 | g.149980493C>T | CA447402269 | SLC26A2 | c.900C>T (p.Thr300=) c.372+2142C>T (n.372+2142C>T) | |
| 5 | g.149980494A= | CA1590738397 | SLC26A2 | c.901A= (p.Asn301=) c.372+2143A= (n.372+2143A=) | |
| 5 | g.149980494A>C | CA3505351 | SLC26A2 | c.901A>C (p.Asn301His) c.372+2143A>C (n.372+2143A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980494A>G | CA361706523 | SLC26A2 | c.901A>G (p.Asn301Asp) c.372+2143A>G (n.372+2143A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980494A>T | CA361706524 | SLC26A2 | c.901A>T (p.Asn301Tyr) c.372+2143A>T (n.372+2143A>T) | |
| 5 | g.149980495A= | CA1590738398 | SLC26A2 | c.902A= (p.Asn301=) c.372+2144A= (n.372+2144A=) | |
| 5 | g.149980495A>C | CA361706526 | SLC26A2 | c.902A>C (p.Asn301Thr) c.372+2144A>C (n.372+2144A>C) | |
| 5 | g.149980495A>G | CA3505352 | SLC26A2 | c.902A>G (p.Asn301Ser) c.372+2144A>G (n.372+2144A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980495A>T | CA361706525 | SLC26A2 | c.902A>T (p.Asn301Ile) c.372+2144A>T (n.372+2144A>T) | |
| 5 | g.149980495_149980497delinsATC | CA1590738399 | SLC26A2 | c.902_904delinsATC (p.Asn301=) c.372+2144_372+2146delinsATC (n.372+2144_372+2146delinsATC) | |
| 5 | g.149980496T>A | CA361706527 | SLC26A2 | c.903T>A (p.Asn301Lys) c.372+2145T>A (n.372+2145T>A) | |
| 5 | g.149980496T>C | CA3505353 | SLC26A2 | c.903T>C (p.Asn301=) c.372+2145T>C (n.372+2145T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980496T>G | CA361706528 | SLC26A2 | c.903T>G (p.Asn301Lys) c.372+2145T>G (n.372+2145T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980496T= | CA1590738400 | SLC26A2 | c.903T= (p.Asn301=) c.372+2145T= (n.372+2145T=) | |
| 5 | g.149980499_149980500del | CA263277 | SLC26A2 | c.906_907del (p.Cys303Ter) c.372+2148_372+2149del (n.372+2148_372+2149del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980497C>A | CA361706529 | SLC26A2 | c.904C>A (p.Leu302Ile) c.372+2146C>A (n.372+2146C>A) | dbSNP |
| 5 | g.149980497C= | CA1590738401 | SLC26A2 | c.904C= (p.Leu302=) c.372+2146C= (n.372+2146C=) | |
| 5 | g.149980497C>G | CA361706530 | SLC26A2 | c.904C>G (p.Leu302Val) c.372+2146C>G (n.372+2146C>G) | gnomAD v4 |
| 5 | g.149980497C>T | CA361706531 | SLC26A2 | c.904C>T (p.Leu302Phe) c.372+2146C>T (n.372+2146C>T) | COSMIC |
| 5 | g.149980498T>A | CA361706532 | SLC26A2 | c.905T>A (p.Leu302His) c.372+2147T>A (n.372+2147T>A) | |
| 5 | g.149980498T>C | CA361706534 | SLC26A2 | c.905T>C (p.Leu302Pro) c.372+2147T>C (n.372+2147T>C) | |
| 5 | g.149980498T>G | CA361706533 | SLC26A2 | c.905T>G (p.Leu302Arg) c.372+2147T>G (n.372+2147T>G) | |
| 5 | g.149980499C>A | CA447402275 | SLC26A2 | c.906C>A (p.Leu302=) c.372+2148C>A (n.372+2148C>A) | |
| 5 | g.149980499C>G | CA447402276 | SLC26A2 | c.906C>G (p.Leu302=) c.372+2148C>G (n.372+2148C>G) | |
| 5 | g.149980499C>T | CA447402277 | SLC26A2 | c.906C>T (p.Leu302=) c.372+2148C>T (n.372+2148C>T) | |
| 5 | g.149980500T>A | CA361706535 | SLC26A2 | c.907T>A (p.Cys303Ser) c.372+2149T>A (n.372+2149T>A) | |
| 5 | g.149980500T>C | CA361706536 | SLC26A2 | c.907T>C (p.Cys303Arg) c.372+2149T>C (n.372+2149T>C) | |
| 5 | g.149980500T>G | CA361706537 | SLC26A2 | c.907T>G (p.Cys303Gly) c.372+2149T>G (n.372+2149T>G) | |
| 5 | g.149980501G>A | CA361706540 | SLC26A2 | c.908G>A (p.Cys303Tyr) c.372+2150G>A (n.372+2150G>A) | |
| 5 | g.149980501G>C | CA361706538 | SLC26A2 | c.908G>C (p.Cys303Ser) c.372+2150G>C (n.372+2150G>C) | |
| 5 | g.149980501G>T | CA361706539 | SLC26A2 | c.908G>T (p.Cys303Phe) c.372+2150G>T (n.372+2150G>T) | |
| 5 | g.149980502T>A | CA361706541 | SLC26A2 | c.909T>A (p.Cys303Ter) c.372+2151T>A (n.372+2151T>A) | ClinVar dbSNP |
| 5 | g.149980502T>C | CA447402279 | SLC26A2 | c.909T>C (p.Cys303=) c.372+2151T>C (n.372+2151T>C) | |
| 5 | g.149980502T>G | CA361706542 | SLC26A2 | c.909T>G (p.Cys303Trp) c.372+2151T>G (n.372+2151T>G) | |
| 5 | g.149980502T= | CA1590738402 | SLC26A2 | c.909T= (p.Cys303=) c.372+2151T= (n.372+2151T=) | |
| 5 | g.149980503G>A | CA361706543 | SLC26A2 | c.910G>A (p.Asp304Asn) c.372+2152G>A (n.372+2152G>A) | COSMIC |
| 5 | g.149980503G>C | CA361706544 | SLC26A2 | c.910G>C (p.Asp304His) c.372+2152G>C (n.372+2152G>C) | |
| 5 | g.149980503G>T | CA361706545 | SLC26A2 | c.910G>T (p.Asp304Tyr) c.372+2152G>T (n.372+2152G>T) | |
| 5 | g.149980504A>C | CA361706546 | SLC26A2 | c.911A>C (p.Asp304Ala) c.372+2153A>C (n.372+2153A>C) | |
| 5 | g.149980504A>G | CA361706547 | SLC26A2 | c.911A>G (p.Asp304Gly) c.372+2153A>G (n.372+2153A>G) | |
| 5 | g.149980504A>T | CA361706548 | SLC26A2 | c.911A>T (p.Asp304Val) c.372+2153A>T (n.372+2153A>T) | |
| 5 | g.149980505T>A | CA361706549 | SLC26A2 | c.912T>A (p.Asp304Glu) c.372+2154T>A (n.372+2154T>A) | |
| 5 | g.149980505T>C | CA447402283 | SLC26A2 | c.912T>C (p.Asp304=) c.372+2154T>C (n.372+2154T>C) | |
| 5 | g.149980505T>G | CA361706550 | SLC26A2 | c.912T>G (p.Asp304Glu) c.372+2154T>G (n.372+2154T>G) | |
| 5 | g.149980506C>A | CA361706551 | SLC26A2 | c.913C>A (p.Leu305Ile) c.372+2155C>A (n.372+2155C>A) | |
| 5 | g.149980506C= | CA1590738403 | SLC26A2 | c.913C= (p.Leu305=) c.372+2155C= (n.372+2155C=) | |
| 5 | g.149980506C>G | CA361706552 | SLC26A2 | c.913C>G (p.Leu305Val) c.372+2155C>G (n.372+2155C>G) | |
| 5 | g.149980506C>T | CA361706553 | SLC26A2 | c.913C>T (p.Leu305Phe) c.372+2155C>T (n.372+2155C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980507T>A | CA361706554 | SLC26A2 | c.914T>A (p.Leu305His) c.372+2156T>A (n.372+2156T>A) | |
| 5 | g.149980507T>C | CA361706556 | SLC26A2 | c.914T>C (p.Leu305Pro) c.372+2156T>C (n.372+2156T>C) | |
| 5 | g.149980507T>G | CA361706555 | SLC26A2 | c.914T>G (p.Leu305Arg) c.372+2156T>G (n.372+2156T>G) | |
| 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.149980508T>A | CA447402284 | SLC26A2 | c.915T>A (p.Leu305=) c.372+2157T>A (n.372+2157T>A) | |
| 5 | g.149980508T>C | CA447402285 | SLC26A2 | c.915T>C (p.Leu305=) c.372+2157T>C (n.372+2157T>C) | |
| 5 | g.149980508T>G | CA447402286 | SLC26A2 | c.915T>G (p.Leu305=) c.372+2157T>G (n.372+2157T>G) | |
| 5 | g.149980509A= | CA1590738404 | SLC26A2 | c.916A= (p.Ile306=) c.372+2158A= (n.372+2158A=) | |
| 5 | g.149980509A>C | CA361706557 | SLC26A2 | c.916A>C (p.Ile306Leu) c.372+2158A>C (n.372+2158A>C) | |
| 5 | g.149980509A>G | CA361706558 | SLC26A2 | c.916A>G (p.Ile306Val) c.372+2158A>G (n.372+2158A>G) | |
| 5 | g.149980509A>T | CA361706559 | SLC26A2 | c.916A>T (p.Ile306Phe) c.372+2158A>T (n.372+2158A>T) | 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) |