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.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.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) | |
| 5 | g.149981252G= | CA1590738706 | SLC26A2 | c.1659G= (p.Leu553=) c.372+2901G= (n.372+2901G=) | |
| 5 | g.149981252G>T | CA447402829 | SLC26A2 | c.1659G>T (p.Leu553=) c.372+2901G>T (n.372+2901G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981253C>A | CA361708335 | SLC26A2 | c.1660C>A (p.Leu554Ile) c.372+2902C>A (n.372+2902C>A) | |
| 5 | g.149981253C>G | CA361708336 | SLC26A2 | c.1660C>G (p.Leu554Val) c.372+2902C>G (n.372+2902C>G) | |
| 5 | g.149981253C>T | CA361708337 | SLC26A2 | c.1660C>T (p.Leu554Phe) c.372+2902C>T (n.372+2902C>T) | gnomAD v4 |
| 5 | g.149981254T>A | CA361708338 | SLC26A2 | c.1661T>A (p.Leu554His) c.372+2903T>A (n.372+2903T>A) | |
| 5 | g.149981254T>C | CA361708339 | SLC26A2 | c.1661T>C (p.Leu554Pro) c.372+2903T>C (n.372+2903T>C) | |
| 5 | g.149981254T>G | CA361708340 | SLC26A2 | c.1661T>G (p.Leu554Arg) c.372+2903T>G (n.372+2903T>G) | |
| 5 | g.149981255T>A | CA3505473 | SLC26A2 | c.1662T>A (p.Leu554=) c.372+2904T>A (n.372+2904T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981255T>C | CA447402832 | SLC26A2 | c.1662T>C (p.Leu554=) c.372+2904T>C (n.372+2904T>C) | |
| 5 | g.149981255T>G | CA447402831 | SLC26A2 | c.1662T>G (p.Leu554=) c.372+2904T>G (n.372+2904T>G) | |
| 5 | g.149981255T= | CA1590738707 | SLC26A2 | c.1662T= (p.Leu554=) c.372+2904T= (n.372+2904T=) | |
| 5 | g.149981256G>A | CA361708345 | SLC26A2 | c.1663G>A (p.Gly555Ser) c.372+2905G>A (n.372+2905G>A) | |
| 5 | g.149981256G>C | CA361708344 | SLC26A2 | c.1663G>C (p.Gly555Arg) c.372+2905G>C (n.372+2905G>C) | |
| 5 | g.149981256G>T | CA361708341 | SLC26A2 | c.1663G>T (p.Gly555Cys) c.372+2905G>T (n.372+2905G>T) | |
| 5 | g.149981257G>A | CA361708348 | SLC26A2 | c.1664G>A (p.Gly555Asp) c.372+2906G>A (n.372+2906G>A) | gnomAD v4 |
| 5 | g.149981257G>C | CA361708349 | SLC26A2 | c.1664G>C (p.Gly555Ala) c.372+2906G>C (n.372+2906G>C) | |
| 5 | g.149981257G= | CA1590738708 | SLC26A2 | c.1664G= (p.Gly555=) c.372+2906G= (n.372+2906G=) | |
| 5 | g.149981257G>T | CA361708352 | SLC26A2 | c.1664G>T (p.Gly555Val) c.372+2906G>T (n.372+2906G>T) | dbSNP |
| 5 | g.149981258C>A | CA447402836 | SLC26A2 | c.1665C>A (p.Gly555=) c.372+2907C>A (n.372+2907C>A) | |
| 5 | g.149981258C>G | CA447402835 | SLC26A2 | c.1665C>G (p.Gly555=) c.372+2907C>G (n.372+2907C>G) | gnomAD v4 |
| 5 | g.149981258C>T | CA447402834 | SLC26A2 | c.1665C>T (p.Gly555=) c.372+2907C>T (n.372+2907C>T) | |
| 5 | g.149981259T>A | CA361708354 | SLC26A2 | c.1666T>A (p.Leu556Met) c.372+2908T>A (n.372+2908T>A) | ClinVar dbSNP |
| 5 | g.149981259T>C | CA447402838 | SLC26A2 | c.1666T>C (p.Leu556=) c.372+2908T>C (n.372+2908T>C) | |
| 5 | g.149981259T>G | CA361708356 | SLC26A2 | c.1666T>G (p.Leu556Val) c.372+2908T>G (n.372+2908T>G) | |
| 5 | g.149981259T= | CA1590738709 | SLC26A2 | c.1666T= (p.Leu556=) c.372+2908T= (n.372+2908T=) | |
| 5 | g.149981260T>A | CA361708358 | SLC26A2 | c.1667T>A (p.Leu556Ter) c.372+2909T>A (n.372+2909T>A) | |
| 5 | g.149981260T>C | CA361708359 | SLC26A2 | c.1667T>C (p.Leu556Ser) c.372+2909T>C (n.372+2909T>C) | dbSNP |
| 5 | g.149981260T>G | CA361708361 | SLC26A2 | c.1667T>G (p.Leu556Trp) c.372+2909T>G (n.372+2909T>G) | |
| 5 | g.149981261G>A | CA447402839 | SLC26A2 | c.1668G>A (p.Leu556=) c.372+2910G>A (n.372+2910G>A) | |
| 5 | g.149981261G>C | CA361708363 | SLC26A2 | c.1668G>C (p.Leu556Phe) c.372+2910G>C (n.372+2910G>C) | |
| 5 | g.149981261G>T | CA361708365 | SLC26A2 | c.1668G>T (p.Leu556Phe) c.372+2910G>T (n.372+2910G>T) | ClinVar dbSNP |
| 5 | g.149981262G>A | CA361708367 | SLC26A2 | c.1669G>A (p.Val557Met) c.372+2911G>A (n.372+2911G>A) | |
| 5 | g.149981262G>C | CA361708369 | SLC26A2 | c.1669G>C (p.Val557Leu) c.372+2911G>C (n.372+2911G>C) | |
| 5 | g.149981262G>T | CA361708371 | SLC26A2 | c.1669G>T (p.Val557Leu) c.372+2911G>T (n.372+2911G>T) | gnomAD v4 |
| 5 | g.149981263T>A | CA361708375 | SLC26A2 | c.1670T>A (p.Val557Glu) c.372+2912T>A (n.372+2912T>A) | |
| 5 | g.149981263T>C | CA3505474 | SLC26A2 | c.1670T>C (p.Val557Ala) c.372+2912T>C (n.372+2912T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981263T>G | CA361708373 | SLC26A2 | c.1670T>G (p.Val557Gly) c.372+2912T>G (n.372+2912T>G) | |
| 5 | g.149981263T= | CA1590738710 | SLC26A2 | c.1670T= (p.Val557=) c.372+2912T= (n.372+2912T=) | |
| 5 | g.149981264G>A | CA447402842 | SLC26A2 | c.1671G>A (p.Val557=) c.372+2913G>A (n.372+2913G>A) | gnomAD v4 |
| 5 | g.149981264G>C | CA447402843 | SLC26A2 | c.1671G>C (p.Val557=) c.372+2913G>C (n.372+2913G>C) | |
| 5 | g.149981264G>T | CA447402844 | SLC26A2 | c.1671G>T (p.Val557=) c.372+2913G>T (n.372+2913G>T) | |
| 5 | g.149981265del | CA2578449468 | SLC26A2 | c.1672del (p.Glu558LysfsTer27) c.372+2914del (n.372+2914del) | |
| 5 | g.149981265G>A | CA361708378 | SLC26A2 | c.1672G>A (p.Glu558Lys) c.372+2914G>A (n.372+2914G>A) | dbSNP |
| 5 | g.149981265G>C | CA361708380 | SLC26A2 | c.1672G>C (p.Glu558Gln) c.372+2914G>C (n.372+2914G>C) | |
| 5 | g.149981265G= | CA1590738711 | SLC26A2 | c.1672G= (p.Glu558=) c.372+2914G= (n.372+2914G=) | |
| 5 | g.149981265G>T | CA361708382 | SLC26A2 | c.1672G>T (p.Glu558Ter) c.372+2914G>T (n.372+2914G>T) | |
| 5 | g.149981266A>C | CA361708384 | SLC26A2 | c.1673A>C (p.Glu558Ala) c.372+2915A>C (n.372+2915A>C) | |
| 5 | g.149981266A>G | CA361708386 | SLC26A2 | c.1673A>G (p.Glu558Gly) c.372+2915A>G (n.372+2915A>G) | gnomAD v4 |
| 5 | g.149981266A>T | CA361708388 | SLC26A2 | c.1673A>T (p.Glu558Val) c.372+2915A>T (n.372+2915A>T) | |
| 5 | g.149981266_149981268delinsAAG | CA1590738712 | SLC26A2 | c.1673_1675delinsAAG (p.Glu558=) c.372+2915_372+2917delinsAAG (n.372+2915_372+2917delinsAAG) | |
| 5 | g.149981267A>C | CA361708389 | SLC26A2 | c.1674A>C (p.Glu558Asp) c.372+2916A>C (n.372+2916A>C) | |
| 5 | g.149981267A>G | CA447402846 | SLC26A2 | c.1674A>G (p.Glu558=) c.372+2916A>G (n.372+2916A>G) | |
| 5 | g.149981267A>T | CA361708391 | SLC26A2 | c.1674A>T (p.Glu558Asp) c.372+2916A>T (n.372+2916A>T) | |
| 5 | g.149981269_149981270del | CA1590738713 | SLC26A2 | c.1676_1677del (p.Glu559ValfsTer2) c.372+2918_372+2919del (n.372+2918_372+2919del) | dbSNP |
| 5 | g.149981268G>A | CA361708394 | SLC26A2 | c.1675G>A (p.Glu559Lys) c.372+2917G>A (n.372+2917G>A) | |
| 5 | g.149981268G>C | CA361708395 | SLC26A2 | c.1675G>C (p.Glu559Gln) c.372+2917G>C (n.372+2917G>C) | |
| 5 | g.149981268G>T | CA361708397 | SLC26A2 | c.1675G>T (p.Glu559Ter) c.372+2917G>T (n.372+2917G>T) | |
| 5 | g.149981269A>C | CA361708400 | SLC26A2 | c.1676A>C (p.Glu559Ala) c.372+2918A>C (n.372+2918A>C) | |
| 5 | g.149981269A>G | CA361708402 | SLC26A2 | c.1676A>G (p.Glu559Gly) c.372+2918A>G (n.372+2918A>G) | gnomAD v4 |
| 5 | g.149981269A>T | CA361708404 | SLC26A2 | c.1676A>T (p.Glu559Val) c.372+2918A>T (n.372+2918A>T) | |
| 5 | g.149981270G>A | CA447402848 | SLC26A2 | c.1677G>A (p.Glu559=) c.372+2919G>A (n.372+2919G>A) | |
| 5 | g.149981270G>C | CA361708409 | SLC26A2 | c.1677G>C (p.Glu559Asp) c.372+2919G>C (n.372+2919G>C) | |
| 5 | g.149981270G>T | CA361708406 | SLC26A2 | c.1677G>T (p.Glu559Asp) c.372+2919G>T (n.372+2919G>T) | |
| 5 | g.149981271T>A | CA361708411 | SLC26A2 | c.1678T>A (p.Ser560Thr) c.372+2920T>A (n.372+2920T>A) | |
| 5 | g.149981271T>C | CA361708413 | SLC26A2 | c.1678T>C (p.Ser560Pro) c.372+2920T>C (n.372+2920T>C) | |
| 5 | g.149981271T>G | CA361708415 | SLC26A2 | c.1678T>G (p.Ser560Ala) c.372+2920T>G (n.372+2920T>G) | |
| 5 | g.149981272C>A | CA361708416 | SLC26A2 | c.1679C>A (p.Ser560Tyr) c.372+2921C>A (n.372+2921C>A) | |
| 5 | g.149981272C= | CA1590738714 | SLC26A2 | c.1679C= (p.Ser560=) c.372+2921C= (n.372+2921C=) | |
| 5 | g.149981272C>G | CA3505475 | SLC26A2 | c.1679C>G (p.Ser560Cys) c.372+2921C>G (n.372+2921C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981272C>T | CA361708418 | SLC26A2 | c.1679C>T (p.Ser560Phe) c.372+2921C>T (n.372+2921C>T) | |
| 5 | g.149981273T>A | CA447402850 | SLC26A2 | c.1680T>A (p.Ser560=) c.372+2922T>A (n.372+2922T>A) | |
| 5 | g.149981273T>C | CA129084558 | SLC26A2 | c.1680T>C (p.Ser560=) c.372+2922T>C (n.372+2922T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981273T>G | CA447402851 | SLC26A2 | c.1680T>G (p.Ser560=) c.372+2922T>G (n.372+2922T>G) | |
| 5 | g.149981273T= | CA1590738715 | SLC26A2 | c.1680T= (p.Ser560=) c.372+2922T= (n.372+2922T=) | |
| 5 | g.149981274G>A | CA361708424 | SLC26A2 | c.1681G>A (p.Glu561Lys) c.372+2923G>A (n.372+2923G>A) | |
| 5 | g.149981274G>C | CA361708421 | SLC26A2 | c.1681G>C (p.Glu561Gln) c.372+2923G>C (n.372+2923G>C) | |
| 5 | g.149981274G>T | CA361708422 | SLC26A2 | c.1681G>T (p.Glu561Ter) c.372+2923G>T (n.372+2923G>T) | |
| 5 | g.149981275A>C | CA361708427 | SLC26A2 | c.1682A>C (p.Glu561Ala) c.372+2924A>C (n.372+2924A>C) | |
| 5 | g.149981275A>G | CA361708429 | SLC26A2 | c.1682A>G (p.Glu561Gly) c.372+2924A>G (n.372+2924A>G) | gnomAD v4 |
| 5 | g.149981275A>T | CA361708431 | SLC26A2 | c.1682A>T (p.Glu561Val) c.372+2924A>T (n.372+2924A>T) | |
| 5 | g.149981276G>A | CA447402855 | SLC26A2 | c.1683G>A (p.Glu561=) c.372+2925G>A (n.372+2925G>A) | gnomAD v4 |
| 5 | g.149981276G>C | CA361708434 | SLC26A2 | c.1683G>C (p.Glu561Asp) c.372+2925G>C (n.372+2925G>C) | |
| 5 | g.149981276G>T | CA361708436 | SLC26A2 | c.1683G>T (p.Glu561Asp) c.372+2925G>T (n.372+2925G>T) | |
| 5 | g.149981277G>A | CA361708438 | SLC26A2 | c.1684G>A (p.Val562Ile) c.372+2926G>A (n.372+2926G>A) | |
| 5 | g.149981277G>C | CA361708441 | SLC26A2 | c.1684G>C (p.Val562Leu) c.372+2926G>C (n.372+2926G>C) | |
| 5 | g.149981277G>T | CA361708439 | SLC26A2 | c.1684G>T (p.Val562Phe) c.372+2926G>T (n.372+2926G>T) | |
| 5 | g.149981278T>A | CA361708443 | SLC26A2 | c.1685T>A (p.Val562Asp) c.372+2927T>A (n.372+2927T>A) | |
| 5 | g.149981278T>C | CA361708444 | SLC26A2 | c.1685T>C (p.Val562Ala) c.372+2927T>C (n.372+2927T>C) | ClinVar |
| 5 | g.149981278T>G | CA361708446 | SLC26A2 | c.1685T>G (p.Val562Gly) c.372+2927T>G (n.372+2927T>G) | |
| 5 | g.149981279C>A | CA447402859 | SLC26A2 | c.1686C>A (p.Val562=) c.372+2928C>A (n.372+2928C>A) | |
| 5 | g.149981279C>G | CA447402860 | SLC26A2 | c.1686C>G (p.Val562=) c.372+2928C>G (n.372+2928C>G) | gnomAD v4 |
| 5 | g.149981279C>T | CA447402862 | SLC26A2 | c.1686C>T (p.Val562=) c.372+2928C>T (n.372+2928C>T) | |
| 5 | g.149981280T>A | CA361708449 | SLC26A2 | c.1687T>A (p.Phe563Ile) c.372+2929T>A (n.372+2929T>A) | |
| 5 | g.149981280T>C | CA361708451 | SLC26A2 | c.1687T>C (p.Phe563Leu) c.372+2929T>C (n.372+2929T>C) | |
| 5 | g.149981280T>G | CA361708453 | SLC26A2 | c.1687T>G (p.Phe563Val) c.372+2929T>G (n.372+2929T>G) | dbSNP gnomAD v4 COSMIC |
| 5 | g.149981280T= | CA1590738716 | SLC26A2 | c.1687T= (p.Phe563=) c.372+2929T= (n.372+2929T=) | |
| 5 | g.149981281T>A | CA361708455 | SLC26A2 | c.1688T>A (p.Phe563Tyr) c.372+2930T>A (n.372+2930T>A) | |
| 5 | g.149981281T>C | CA361708456 | SLC26A2 | c.1688T>C (p.Phe563Ser) c.372+2930T>C (n.372+2930T>C) | |
| 5 | g.149981281T>G | CA361708459 | SLC26A2 | c.1688T>G (p.Phe563Cys) c.372+2930T>G (n.372+2930T>G) | |
| 5 | g.149981282T>A | CA361708461 | SLC26A2 | c.1689T>A (p.Phe563Leu) c.372+2931T>A (n.372+2931T>A) | dbSNP |
| 5 | g.149981282T>C | CA3505476 | SLC26A2 | c.1689T>C (p.Phe563=) c.372+2931T>C (n.372+2931T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981282T>G | CA361708464 | SLC26A2 | c.1689T>G (p.Phe563Leu) c.372+2931T>G (n.372+2931T>G) | |
| 5 | g.149981282T= | CA1590738717 | SLC26A2 | c.1689T= (p.Phe563=) c.372+2931T= (n.372+2931T=) | |
| 5 | g.149981283G>A | CA361708470 | SLC26A2 | c.1690G>A (p.Glu564Lys) c.372+2932G>A (n.372+2932G>A) | |
| 5 | g.149981283G>C | CA361708466 | SLC26A2 | c.1690G>C (p.Glu564Gln) c.372+2932G>C (n.372+2932G>C) | gnomAD v4 |
| 5 | g.149981283G>T | CA361708468 | SLC26A2 | c.1690G>T (p.Glu564Ter) c.372+2932G>T (n.372+2932G>T) | |
| 5 | g.149981284A>C | CA361708472 | SLC26A2 | c.1691A>C (p.Glu564Ala) c.372+2933A>C (n.372+2933A>C) | |
| 5 | g.149981284A>G | CA361708474 | SLC26A2 | c.1691A>G (p.Glu564Gly) c.372+2933A>G (n.372+2933A>G) | |
| 5 | g.149981284A>T | CA361708476 | SLC26A2 | c.1691A>T (p.Glu564Val) c.372+2933A>T (n.372+2933A>T) | |
| 5 | g.149981285A>C | CA361708479 | SLC26A2 | c.1692A>C (p.Glu564Asp) c.372+2934A>C (n.372+2934A>C) | |
| 5 | g.149981285A>G | CA447402868 | SLC26A2 | c.1692A>G (p.Glu564=) c.372+2934A>G (n.372+2934A>G) | |
| 5 | g.149981285A>T | CA361708481 | SLC26A2 | c.1692A>T (p.Glu564Asp) c.372+2934A>T (n.372+2934A>T) | |
| 5 | g.149981286T>A | CA361708483 | SLC26A2 | c.1693T>A (p.Ser565Thr) c.372+2935T>A (n.372+2935T>A) | |
| 5 | g.149981286T>C | CA361708484 | SLC26A2 | c.1693T>C (p.Ser565Pro) c.372+2935T>C (n.372+2935T>C) | |
| 5 | g.149981286T>G | CA361708487 | SLC26A2 | c.1693T>G (p.Ser565Ala) c.372+2935T>G (n.372+2935T>G) | |
| 5 | g.149981287C>A | CA3505477 | SLC26A2 | c.1694C>A (p.Ser565Tyr) c.372+2936C>A (n.372+2936C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981287C= | CA1590738718 | SLC26A2 | c.1694C= (p.Ser565=) c.372+2936C= (n.372+2936C=) | |
| 5 | g.149981287C>G | CA3505478 | SLC26A2 | c.1694C>G (p.Ser565Cys) c.372+2936C>G (n.372+2936C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981287C>T | CA361708489 | SLC26A2 | c.1694C>T (p.Ser565Phe) c.372+2936C>T (n.372+2936C>T) | COSMIC |
| 5 | g.149981288T>A | CA447402872 | SLC26A2 | c.1695T>A (p.Ser565=) c.372+2937T>A (n.372+2937T>A) | |
| 5 | g.149981288T>C | CA447402875 | SLC26A2 | c.1695T>C (p.Ser565=) c.372+2937T>C (n.372+2937T>C) | |
| 5 | g.149981288T>G | CA447402873 | SLC26A2 | c.1695T>G (p.Ser565=) c.372+2937T>G (n.372+2937T>G) | |
| 5 | g.149981289G>A | CA361708491 | SLC26A2 | c.1696G>A (p.Val566Met) c.372+2938G>A (n.372+2938G>A) | gnomAD v4 |
| 5 | g.149981289G>C | CA361708494 | SLC26A2 | c.1696G>C (p.Val566Leu) c.372+2938G>C (n.372+2938G>C) | |
| 5 | g.149981289G>T | CA361708492 | SLC26A2 | c.1696G>T (p.Val566Leu) c.372+2938G>T (n.372+2938G>T) | |
| 5 | g.149981290T>A | CA361708496 | SLC26A2 | c.1697T>A (p.Val566Glu) c.372+2939T>A (n.372+2939T>A) | |
| 5 | g.149981290T>C | CA361708499 | SLC26A2 | c.1697T>C (p.Val566Ala) c.372+2939T>C (n.372+2939T>C) | |
| 5 | g.149981290T>G | CA361708497 | SLC26A2 | c.1697T>G (p.Val566Gly) c.372+2939T>G (n.372+2939T>G) | |
| 5 | g.149981291G>A | CA129084574 | SLC26A2 | c.1698G>A (p.Val566=) c.372+2940G>A (n.372+2940G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981291G>C | CA447402878 | SLC26A2 | c.1698G>C (p.Val566=) c.372+2940G>C (n.372+2940G>C) | |
| 5 | g.149981291G= | CA1590738719 | SLC26A2 | c.1698G= (p.Val566=) c.372+2940G= (n.372+2940G=) | |
| 5 | g.149981291G>T | CA447402880 | SLC26A2 | c.1698G>T (p.Val566=) c.372+2940G>T (n.372+2940G>T) | |
| 5 | g.149981292T>A | CA361708502 | SLC26A2 | c.1699T>A (p.Ser567Thr) c.372+2941T>A (n.372+2941T>A) | |
| 5 | g.149981292T>C | CA361708505 | SLC26A2 | c.1699T>C (p.Ser567Pro) c.372+2941T>C (n.372+2941T>C) | |
| 5 | g.149981292T>G | CA361708503 | SLC26A2 | c.1699T>G (p.Ser567Ala) c.372+2941T>G (n.372+2941T>G) | |
| 5 | g.149981293C>A | CA361708507 | SLC26A2 | c.1700C>A (p.Ser567Tyr) c.372+2942C>A (n.372+2942C>A) | |
| 5 | g.149981293C= | CA1590738720 | SLC26A2 | c.1700C= (p.Ser567=) c.372+2942C= (n.372+2942C=) | |
| 5 | g.149981293C>G | CA129084580 | SLC26A2 | c.1700C>G (p.Ser567Cys) c.372+2942C>G (n.372+2942C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981293C>T | CA361708509 | SLC26A2 | c.1700C>T (p.Ser567Phe) c.372+2942C>T (n.372+2942C>T) | COSMIC |
| 5 | g.149981294T>A | CA447402882 | SLC26A2 | c.1701T>A (p.Ser567=) c.372+2943T>A (n.372+2943T>A) | |
| 5 | g.149981294T>C | CA447402884 | SLC26A2 | c.1701T>C (p.Ser567=) c.372+2943T>C (n.372+2943T>C) | |
| 5 | g.149981294T>G | CA447402883 | SLC26A2 | c.1701T>G (p.Ser567=) c.372+2943T>G (n.372+2943T>G) | |
| 5 | g.149981295G>A | CA361708512 | SLC26A2 | c.1702G>A (p.Ala568Thr) c.372+2944G>A (n.372+2944G>A) | |
| 5 | g.149981295G>C | CA361708514 | SLC26A2 | c.1702G>C (p.Ala568Pro) c.372+2944G>C (n.372+2944G>C) | |
| 5 | g.149981295G>T | CA361708516 | SLC26A2 | c.1702G>T (p.Ala568Ser) c.372+2944G>T (n.372+2944G>T) | |
| 5 | g.149981296C>A | CA361708519 | SLC26A2 | c.1703C>A (p.Ala568Asp) c.372+2945C>A (n.372+2945C>A) | |
| 5 | g.149981296C>G | CA361708521 | SLC26A2 | c.1703C>G (p.Ala568Gly) c.372+2945C>G (n.372+2945C>G) | |
| 5 | g.149981296C>T | CA361708523 | SLC26A2 | c.1703C>T (p.Ala568Val) c.372+2945C>T (n.372+2945C>T) | |
| 5 | g.149981297T>A | CA447402885 | SLC26A2 | c.1704T>A (p.Ala568=) c.372+2946T>A (n.372+2946T>A) | |
| 5 | g.149981297T>C | CA447402886 | SLC26A2 | c.1704T>C (p.Ala568=) c.372+2946T>C (n.372+2946T>C) | dbSNP gnomAD v2 |
| 5 | g.149981297T>G | CA447402887 | SLC26A2 | c.1704T>G (p.Ala568=) c.372+2946T>G (n.372+2946T>G) | |
| 5 | g.149981297T= | CA1590738721 | SLC26A2 | c.1704T= (p.Ala568=) c.372+2946T= (n.372+2946T=) | |
| 5 | g.149981298T>A | CA361708525 | SLC26A2 | c.1705T>A (p.Tyr569Asn) c.372+2947T>A (n.372+2947T>A) | |
| 5 | g.149981298T>C | CA361708527 | SLC26A2 | c.1705T>C (p.Tyr569His) c.372+2947T>C (n.372+2947T>C) | gnomAD v4 |
| 5 | g.149981298T>G | CA361708529 | SLC26A2 | c.1705T>G (p.Tyr569Asp) c.372+2947T>G (n.372+2947T>G) | |
| 5 | g.149981299A>C | CA361708536 | SLC26A2 | c.1706A>C (p.Tyr569Ser) c.372+2948A>C (n.372+2948A>C) | |
| 5 | g.149981299A>G | CA361708534 | SLC26A2 | c.1706A>G (p.Tyr569Cys) c.372+2948A>G (n.372+2948A>G) | |
| 5 | g.149981299A>T | CA361708532 | SLC26A2 | c.1706A>T (p.Tyr569Phe) c.372+2948A>T (n.372+2948A>T) | |
| 5 | g.149981300C>A | CA361708538 | SLC26A2 | c.1707C>A (p.Tyr569Ter) c.372+2949C>A (n.372+2949C>A) | |
| 5 | g.149981300C= | CA1590738722 | SLC26A2 | c.1707C= (p.Tyr569=) c.372+2949C= (n.372+2949C=) | |
| 5 | g.149981300C>G | CA361708540 | SLC26A2 | c.1707C>G (p.Tyr569Ter) c.372+2949C>G (n.372+2949C>G) | ClinVar dbSNP |
| 5 | g.149981300C>T | CA3505479 | SLC26A2 | c.1707C>T (p.Tyr569=) c.372+2949C>T (n.372+2949C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981301A= | CA1590738723 | SLC26A2 | c.1708A= (p.Lys570=) c.372+2950A= (n.372+2950A=) | |
| 5 | g.149981301A>C | CA361708542 | SLC26A2 | c.1708A>C (p.Lys570Gln) c.372+2950A>C (n.372+2950A>C) | |
| 5 | g.149981301A>G | CA361708544 | SLC26A2 | c.1708A>G (p.Lys570Glu) c.372+2950A>G (n.372+2950A>G) | dbSNP gnomAD v4 |
| 5 | g.149981301A>T | CA361708547 | SLC26A2 | c.1708A>T (p.Lys570Ter) c.372+2950A>T (n.372+2950A>T) | |
| 5 | g.149981302A= | CA1590738724 | SLC26A2 | c.1709A= (p.Lys570=) c.372+2951A= (n.372+2951A=) | |
| 5 | g.149981302A>C | CA361708549 | SLC26A2 | c.1709A>C (p.Lys570Thr) c.372+2951A>C (n.372+2951A>C) | |
| 5 | g.149981302A>G | CA361708550 | SLC26A2 | c.1709A>G (p.Lys570Arg) c.372+2951A>G (n.372+2951A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981302A>T | CA361708551 | SLC26A2 | c.1709A>T (p.Lys570Met) c.372+2951A>T (n.372+2951A>T) | |
| 5 | g.149981303G>A | CA447402888 | SLC26A2 | c.1710G>A (p.Lys570=) c.372+2952G>A (n.372+2952G>A) | |
| 5 | g.149981303G>C | CA361708552 | SLC26A2 | c.1710G>C (p.Lys570Asn) c.372+2952G>C (n.372+2952G>C) | |
| 5 | g.149981303G>T | CA361708554 | SLC26A2 | c.1710G>T (p.Lys570Asn) c.372+2952G>T (n.372+2952G>T) | |
| 5 | g.149981304A>C | CA361708557 | SLC26A2 | c.1711A>C (p.Asn571His) c.372+2953A>C (n.372+2953A>C) | |
| 5 | g.149981304A>G | CA361708558 | SLC26A2 | c.1711A>G (p.Asn571Asp) c.372+2953A>G (n.372+2953A>G) | |
| 5 | g.149981304A>T | CA361708556 | SLC26A2 | c.1711A>T (p.Asn571Tyr) c.372+2953A>T (n.372+2953A>T) | |
| 5 | g.149981305A>C | CA361708560 | SLC26A2 | c.1712A>C (p.Asn571Thr) c.372+2954A>C (n.372+2954A>C) | |
| 5 | g.149981305A>G | CA361708561 | SLC26A2 | c.1712A>G (p.Asn571Ser) c.372+2954A>G (n.372+2954A>G) | |
| 5 | g.149981305A>T | CA361708562 | SLC26A2 | c.1712A>T (p.Asn571Ile) c.372+2954A>T (n.372+2954A>T) | |
| 5 | g.149981306C>A | CA361708563 | SLC26A2 | c.1713C>A (p.Asn571Lys) c.372+2955C>A (n.372+2955C>A) | |
| 5 | g.149981306C>G | CA361708564 | SLC26A2 | c.1713C>G (p.Asn571Lys) c.372+2955C>G (n.372+2955C>G) | |
| 5 | g.149981306C>T | CA447402889 | SLC26A2 | c.1713C>T (p.Asn571=) c.372+2955C>T (n.372+2955C>T) | |
| 5 | g.149981307del | CA2499217724 | SLC26A2 | c.1714del (p.Leu572PhefsTer13) c.372+2956del (n.372+2956del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981307C>A | CA361708565 | SLC26A2 | c.1714C>A (p.Leu572Ile) c.372+2956C>A (n.372+2956C>A) | |
| 5 | g.149981307C>G | CA361708566 | SLC26A2 | c.1714C>G (p.Leu572Val) c.372+2956C>G (n.372+2956C>G) | |
| 5 | g.149981307C>T | CA361708568 | SLC26A2 | c.1714C>T (p.Leu572Phe) c.372+2956C>T (n.372+2956C>T) | gnomAD v4 |
| 5 | g.149981308T>A | CA361708570 | SLC26A2 | c.1715T>A (p.Leu572His) c.372+2957T>A (n.372+2957T>A) | |
| 5 | g.149981308T>C | CA361708571 | SLC26A2 | c.1715T>C (p.Leu572Pro) c.372+2957T>C (n.372+2957T>C) | |
| 5 | g.149981308T>G | CA361708572 | SLC26A2 | c.1715T>G (p.Leu572Arg) c.372+2957T>G (n.372+2957T>G) | |
| 5 | g.149981309T>A | CA447402890 | SLC26A2 | c.1716T>A (p.Leu572=) c.372+2958T>A (n.372+2958T>A) | |
| 5 | g.149981309T>C | CA447402892 | SLC26A2 | c.1716T>C (p.Leu572=) c.372+2958T>C (n.372+2958T>C) | |
| 5 | g.149981309T>G | CA447402891 | SLC26A2 | c.1716T>G (p.Leu572=) c.372+2958T>G (n.372+2958T>G) | |
| 5 | g.149981310C>A | CA361708579 | SLC26A2 | c.1717C>A (p.Gln573Lys) c.372+2959C>A (n.372+2959C>A) | |
| 5 | g.149981310C>G | CA361708577 | SLC26A2 | c.1717C>G (p.Gln573Glu) c.372+2959C>G (n.372+2959C>G) | |
| 5 | g.149981310C>T | CA361708575 | SLC26A2 | c.1717C>T (p.Gln573Ter) c.372+2959C>T (n.372+2959C>T) | |
| 5 | g.149981313_149981314insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA | CA2740094149 | SLC26A2 | c.1720_1721insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA (p.Ile574ThrfsTer28) c.372+2962_372+2963insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA (n.372+2962_372+2963insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA) | ClinVar |
| 5 | g.149981311A>C | CA361708581 | SLC26A2 | c.1718A>C (p.Gln573Pro) c.372+2960A>C (n.372+2960A>C) | |
| 5 | g.149981311A>G | CA361708583 | SLC26A2 | c.1718A>G (p.Gln573Arg) c.372+2960A>G (n.372+2960A>G) | |
| 5 | g.149981311A>T | CA361708584 | SLC26A2 | c.1718A>T (p.Gln573Leu) c.372+2960A>T (n.372+2960A>T) | |
| 5 | g.149981312G>A | CA447402893 | SLC26A2 | c.1719G>A (p.Gln573=) c.372+2961G>A (n.372+2961G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981312G>C | CA361708586 | SLC26A2 | c.1719G>C (p.Gln573His) c.372+2961G>C (n.372+2961G>C) | |
| 5 | g.149981312G= | CA1590738725 | SLC26A2 | c.1719G= (p.Gln573=) c.372+2961G= (n.372+2961G=) | |
| 5 | g.149981312G>T | CA361708588 | SLC26A2 | c.1719G>T (p.Gln573His) c.372+2961G>T (n.372+2961G>T) | |
| 5 | g.149981313del | CA2573139280 | SLC26A2 | c.1720del (p.Ile574LeufsTer11) c.372+2962del (n.372+2962del) | ClinVar dbSNP |
| 5 | g.149981313A>C | CA361708590 | SLC26A2 | c.1720A>C (p.Ile574Leu) c.372+2962A>C (n.372+2962A>C) | |
| 5 | g.149981313A>G | CA361708591 | SLC26A2 | c.1720A>G (p.Ile574Val) c.372+2962A>G (n.372+2962A>G) | |
| 5 | g.149981313A>T | CA361708592 | SLC26A2 | c.1720A>T (p.Ile574Phe) c.372+2962A>T (n.372+2962A>T) | |
| 5 | g.149981314T>A | CA361708593 | SLC26A2 | c.1721T>A (p.Ile574Asn) c.372+2963T>A (n.372+2963T>A) | dbSNP |
| 5 | g.149981314T>C | CA202204 | SLC26A2 | c.1721T>C (p.Ile574Thr) c.372+2963T>C (n.372+2963T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981314T>G | CA361708595 | SLC26A2 | c.1721T>G (p.Ile574Ser) c.372+2963T>G (n.372+2963T>G) | dbSNP |
| 5 | g.149981314T= | CA1590738726 | SLC26A2 | c.1721T= (p.Ile574=) c.372+2963T= (n.372+2963T=) | |
| 5 | g.149981315del | CA2768879585 | SLC26A2 | c.1722del (p.Lys575SerfsTer10) c.372+2964del (n.372+2964del) | |
| 5 | g.149981315T>A | CA447402894 | SLC26A2 | c.1722T>A (p.Ile574=) c.372+2964T>A (n.372+2964T>A) | |
| 5 | g.149981315T>C | CA447402895 | SLC26A2 | c.1722T>C (p.Ile574=) c.372+2964T>C (n.372+2964T>C) | |
| 5 | g.149981315T>G | CA361708597 | SLC26A2 | c.1722T>G (p.Ile574Met) c.372+2964T>G (n.372+2964T>G) | |
| 5 | g.149981315_149981316delinsTA | CA1590738727 | SLC26A2 | c.1722_1723delinsTA (p.Ile574=) c.372+2964_372+2965delinsTA (n.372+2964_372+2965delinsTA) | |
| 5 | g.149981316A>C | CA361708605 | SLC26A2 | c.1723A>C (p.Lys575Gln) c.372+2965A>C (n.372+2965A>C) | |
| 5 | g.149981316A>G | CA361708603 | SLC26A2 | c.1723A>G (p.Lys575Glu) c.372+2965A>G (n.372+2965A>G) | |
| 5 | g.149981316A>T | CA361708604 | SLC26A2 | c.1723A>T (p.Lys575Ter) c.372+2965A>T (n.372+2965A>T) | |
| 5 | g.149981317del | CA252988 | SLC26A2 | c.1724del (p.Lys575SerfsTer10) c.372+2966del (n.372+2966del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981317A= | CA1590738728 | SLC26A2 | c.1724A= (p.Lys575=) c.372+2966A= (n.372+2966A=) | |
| 5 | g.149981317A>C | CA361708610 | SLC26A2 | c.1724A>C (p.Lys575Thr) c.372+2966A>C (n.372+2966A>C) | |
| 5 | g.149981317A>G | CA361708611 | SLC26A2 | c.1724A>G (p.Lys575Arg) c.372+2966A>G (n.372+2966A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981317A>T | CA361708608 | SLC26A2 | c.1724A>T (p.Lys575Met) c.372+2966A>T (n.372+2966A>T) | |
| 5 | g.149981318G>A | CA447402896 | SLC26A2 | c.1725G>A (p.Lys575=) c.372+2967G>A (n.372+2967G>A) | gnomAD v4 |
| 5 | g.149981318G>C | CA361708613 | SLC26A2 | c.1725G>C (p.Lys575Asn) c.372+2967G>C (n.372+2967G>C) | |
| 5 | g.149981318G>T | CA361708615 | SLC26A2 | c.1725G>T (p.Lys575Asn) c.372+2967G>T (n.372+2967G>T) | |
| 5 | g.149981319C>A | CA361708617 | SLC26A2 | c.1726C>A (p.Pro576Thr) c.372+2968C>A (n.372+2968C>A) | |
| 5 | g.149981319C>G | CA361708619 | SLC26A2 | c.1726C>G (p.Pro576Ala) c.372+2968C>G (n.372+2968C>G) | |
| 5 | g.149981319C>T | CA361708621 | SLC26A2 | c.1726C>T (p.Pro576Ser) c.372+2968C>T (n.372+2968C>T) | |
| 5 | g.149981320C>A | CA361708623 | SLC26A2 | c.1727C>A (p.Pro576Gln) c.372+2969C>A (n.372+2969C>A) | |
| 5 | g.149981320C= | CA1590738729 | SLC26A2 | c.1727C= (p.Pro576=) c.372+2969C= (n.372+2969C=) | |
| 5 | g.149981320C>G | CA361708625 | SLC26A2 | c.1727C>G (p.Pro576Arg) c.372+2969C>G (n.372+2969C>G) | dbSNP gnomAD v2 |
| 5 | g.149981320C>T | CA361708628 | SLC26A2 | c.1727C>T (p.Pro576Leu) c.372+2969C>T (n.372+2969C>T) | |
| 5 | g.149981321A= | CA1590738730 | SLC26A2 | c.1728A= (p.Pro576=) c.372+2970A= (n.372+2970A=) | |
| 5 | g.149981321A>C | CA3505480 | SLC26A2 | c.1728A>C (p.Pro576=) c.372+2970A>C (n.372+2970A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981321A>G | CA447402897 | SLC26A2 | c.1728A>G (p.Pro576=) c.372+2970A>G (n.372+2970A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981321A>T | CA447402898 | SLC26A2 | c.1728A>T (p.Pro576=) c.372+2970A>T (n.372+2970A>T) | |
| 5 | g.149981321_149981323del | CA2675943653 | SLC26A2 | c.1728_1730del (p.Gly577del) c.372+2970_372+2972del (n.372+2970_372+2972del) | gnomAD v4 |
| 5 | g.149981322G>A | CA361708635 | SLC26A2 | c.1729G>A (p.Gly577Ser) c.372+2971G>A (n.372+2971G>A) | |
| 5 | g.149981322G>C | CA361708631 | SLC26A2 | c.1729G>C (p.Gly577Arg) c.372+2971G>C (n.372+2971G>C) | |
| 5 | g.149981322G>T | CA361708633 | SLC26A2 | c.1729G>T (p.Gly577Cys) c.372+2971G>T (n.372+2971G>T) | |
| 5 | g.149981323G>A | CA361708637 | SLC26A2 | c.1730G>A (p.Gly577Asp) c.372+2972G>A (n.372+2972G>A) | |
| 5 | g.149981323G>C | CA361708639 | SLC26A2 | c.1730G>C (p.Gly577Ala) c.372+2972G>C (n.372+2972G>C) | |
| 5 | g.149981323G>T | CA361708641 | SLC26A2 | c.1730G>T (p.Gly577Val) c.372+2972G>T (n.372+2972G>T) | gnomAD v4 |
| 5 | g.149981324C>A | CA447402899 | SLC26A2 | c.1731C>A (p.Gly577=) c.372+2973C>A (n.372+2973C>A) | ClinVar gnomAD v4 |
| 5 | g.149981324C>G | CA447402900 | SLC26A2 | c.1731C>G (p.Gly577=) c.372+2973C>G (n.372+2973C>G) | |
| 5 | g.149981324C>T | CA447402901 | SLC26A2 | c.1731C>T (p.Gly577=) c.372+2973C>T (n.372+2973C>T) | ClinVar |
| 5 | g.149981325A= | CA1590738731 | SLC26A2 | c.1732A= (p.Ile578=) c.372+2974A= (n.372+2974A=) | |
| 5 | g.149981325A>C | CA361708642 | SLC26A2 | c.1732A>C (p.Ile578Leu) c.372+2974A>C (n.372+2974A>C) | gnomAD v4 |
| 5 | g.149981325A>G | CA361708644 | SLC26A2 | c.1732A>G (p.Ile578Val) c.372+2974A>G (n.372+2974A>G) | gnomAD v4 |
| 5 | g.149981325A>T | CA129084583 | SLC26A2 | c.1732A>T (p.Ile578Phe) c.372+2974A>T (n.372+2974A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981326T>A | CA361708647 | SLC26A2 | c.1733T>A (p.Ile578Asn) c.372+2975T>A (n.372+2975T>A) | |
| 5 | g.149981326T>C | CA361708649 | SLC26A2 | c.1733T>C (p.Ile578Thr) c.372+2975T>C (n.372+2975T>C) | |
| 5 | g.149981326T>G | CA361708650 | SLC26A2 | c.1733T>G (p.Ile578Ser) c.372+2975T>G (n.372+2975T>G) | |
| 5 | g.149981327del | CA2697546549 | SLC26A2 | c.1734del (p.Lys579ArgfsTer6) c.372+2976del (n.372+2976del) | ClinVar |
| 5 | g.149981327C>A | CA3505481 | SLC26A2 | c.1734C>A (p.Ile578=) c.372+2976C>A (n.372+2976C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981327C= | CA1590738732 | SLC26A2 | c.1734C= (p.Ile578=) c.372+2976C= (n.372+2976C=) | |
| 5 | g.149981327C>G | CA361708652 | SLC26A2 | c.1734C>G (p.Ile578Met) c.372+2976C>G (n.372+2976C>G) | |
| 5 | g.149981327C>T | CA447402902 | SLC26A2 | c.1734C>T (p.Ile578=) c.372+2976C>T (n.372+2976C>T) | gnomAD v4 |
| 5 | g.149981327_149981328insTCTACT | CA2675943654 | SLC26A2 | c.1734_1735insTCTACT (p.Ile578_Lys579insSerThr) c.372+2976_372+2977insTCTACT (n.372+2976_372+2977insTCTACT) | gnomAD v4 |
| 5 | g.149981328A= | CA1590738733 | SLC26A2 | c.1735A= (p.Lys579=) c.372+2977A= (n.372+2977A=) | |
| 5 | g.149981328A>C | CA361708656 | SLC26A2 | c.1735A>C (p.Lys579Gln) c.372+2977A>C (n.372+2977A>C) | |
| 5 | g.149981328A>G | CA3505482 | SLC26A2 | c.1735A>G (p.Lys579Glu) c.372+2977A>G (n.372+2977A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981328A>T | CA361708654 | SLC26A2 | c.1735A>T (p.Lys579Ter) c.372+2977A>T (n.372+2977A>T) | |
| 5 | g.149981329A>C | CA361708658 | SLC26A2 | c.1736A>C (p.Lys579Thr) c.372+2978A>C (n.372+2978A>C) | |
| 5 | g.149981329A>G | CA361708661 | SLC26A2 | c.1736A>G (p.Lys579Arg) c.372+2978A>G (n.372+2978A>G) | |
| 5 | g.149981329A>T | CA361708662 | SLC26A2 | c.1736A>T (p.Lys579Met) c.372+2978A>T (n.372+2978A>T) | |
| 5 | g.149981330G>A | CA447402903 | SLC26A2 | c.1737G>A (p.Lys579=) c.372+2979G>A (n.372+2979G>A) | gnomAD v4 |
| 5 | g.149981330G>C | CA361708666 | SLC26A2 | c.1737G>C (p.Lys579Asn) c.372+2979G>C (n.372+2979G>C) | |
| 5 | g.149981330G>T | CA361708667 | SLC26A2 | c.1737G>T (p.Lys579Asn) c.372+2979G>T (n.372+2979G>T) | |
| 5 | g.149981331A>C | CA361708670 | SLC26A2 | c.1738A>C (p.Ile580Leu) c.372+2980A>C (n.372+2980A>C) | |
| 5 | g.149981331A>G | CA361708672 | SLC26A2 | c.1738A>G (p.Ile580Val) c.372+2980A>G (n.372+2980A>G) | |
| 5 | g.149981331A>T | CA361708674 | SLC26A2 | c.1738A>T (p.Ile580Phe) c.372+2980A>T (n.372+2980A>T) | |
| 5 | g.149981332T>A | CA361708676 | SLC26A2 | c.1739T>A (p.Ile580Asn) c.372+2981T>A (n.372+2981T>A) | |
| 5 | g.149981332T>C | CA129084587 | SLC26A2 | c.1739T>C (p.Ile580Thr) c.372+2981T>C (n.372+2981T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981332T>G | CA361708678 | SLC26A2 | c.1739T>G (p.Ile580Ser) c.372+2981T>G (n.372+2981T>G) | |
| 5 | g.149981332T= | CA1590738734 | SLC26A2 | c.1739T= (p.Ile580=) c.372+2981T= (n.372+2981T=) | |
| 5 | g.149981333T>A | CA447402905 | SLC26A2 | c.1740T>A (p.Ile580=) c.372+2982T>A (n.372+2982T>A) | |
| 5 | g.149981333T>C | CA447402904 | SLC26A2 | c.1740T>C (p.Ile580=) c.372+2982T>C (n.372+2982T>C) | ClinVar dbSNP |
| 5 | g.149981333T>G | CA361708679 | SLC26A2 | c.1740T>G (p.Ile580Met) c.372+2982T>G (n.372+2982T>G) | |
| 5 | g.149981334T>A | CA361708681 | SLC26A2 | c.1741T>A (p.Phe581Ile) c.372+2983T>A (n.372+2983T>A) | |
| 5 | g.149981334T>C | CA361708682 | SLC26A2 | c.1741T>C (p.Phe581Leu) c.372+2983T>C (n.372+2983T>C) | |
| 5 | g.149981334T>G | CA361708680 | SLC26A2 | c.1741T>G (p.Phe581Val) c.372+2983T>G (n.372+2983T>G) | |
| 5 | g.149981335T>A | CA361708683 | SLC26A2 | c.1742T>A (p.Phe581Tyr) c.372+2984T>A (n.372+2984T>A) | |
| 5 | g.149981335T>C | CA361708684 | SLC26A2 | c.1742T>C (p.Phe581Ser) c.372+2984T>C (n.372+2984T>C) | |
| 5 | g.149981335T>G | CA361708685 | SLC26A2 | c.1742T>G (p.Phe581Cys) c.372+2984T>G (n.372+2984T>G) | |
| 5 | g.149981336C>A | CA361708686 | SLC26A2 | c.1743C>A (p.Phe581Leu) c.372+2985C>A (n.372+2985C>A) | |
| 5 | g.149981336C>G | CA361708687 | SLC26A2 | c.1743C>G (p.Phe581Leu) c.372+2985C>G (n.372+2985C>G) | |
| 5 | g.149981336C>T | CA447402906 | SLC26A2 | c.1743C>T (p.Phe581=) c.372+2985C>T (n.372+2985C>T) | |
| 5 | g.149981337C>A | CA361708689 | SLC26A2 | c.1744C>A (p.Arg582Ser) c.372+2986C>A (n.372+2986C>A) | |
| 5 | g.149981337C= | CA1590738735 | SLC26A2 | c.1744C= (p.Arg582=) c.372+2986C= (n.372+2986C=) | |
| 5 | g.149981337C>G | CA361708688 | SLC26A2 | c.1744C>G (p.Arg582Gly) c.372+2986C>G (n.372+2986C>G) | |
| 5 | g.149981337C>T | CA3505483 | SLC26A2 | c.1744C>T (p.Arg582Cys) c.372+2986C>T (n.372+2986C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981338G>A | CA3505484 | SLC26A2 | c.1745G>A (p.Arg582His) c.372+2987G>A (n.372+2987G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981338G>C | CA361708690 | SLC26A2 | c.1745G>C (p.Arg582Pro) c.372+2987G>C (n.372+2987G>C) | |
| 5 | g.149981338G= | CA1590738736 | SLC26A2 | c.1745G= (p.Arg582=) c.372+2987G= (n.372+2987G=) | |
| 5 | g.149981338G>T | CA129084606 | SLC26A2 | c.1745G>T (p.Arg582Leu) c.372+2987G>T (n.372+2987G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981339C>A | CA447402907 | SLC26A2 | c.1746C>A (p.Arg582=) c.372+2988C>A (n.372+2988C>A) | |
| 5 | g.149981339C= | CA1590738737 | SLC26A2 | c.1746C= (p.Arg582=) c.372+2988C= (n.372+2988C=) | |
| 5 | g.149981339C>G | CA447402908 | SLC26A2 | c.1746C>G (p.Arg582=) c.372+2988C>G (n.372+2988C>G) | |
| 5 | g.149981339C>T | CA447402909 | SLC26A2 | c.1746C>T (p.Arg582=) c.372+2988C>T (n.372+2988C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981340T>A | CA361708691 | SLC26A2 | c.1747T>A (p.Phe583Ile) c.372+2989T>A (n.372+2989T>A) | |
| 5 | g.149981340T>C | CA361708692 | SLC26A2 | c.1747T>C (p.Phe583Leu) c.372+2989T>C (n.372+2989T>C) | |
| 5 | g.149981340T>G | CA361708693 | SLC26A2 | c.1747T>G (p.Phe583Val) c.372+2989T>G (n.372+2989T>G) | |
| 5 | g.149981341T>A | CA361708696 | SLC26A2 | c.1748T>A (p.Phe583Tyr) c.372+2990T>A (n.372+2990T>A) | |
| 5 | g.149981341T>C | CA361708695 | SLC26A2 | c.1748T>C (p.Phe583Ser) c.372+2990T>C (n.372+2990T>C) | |
| 5 | g.149981341T>G | CA361708694 | SLC26A2 | c.1748T>G (p.Phe583Cys) c.372+2990T>G (n.372+2990T>G) | gnomAD v4 |
| 5 | g.149981342T>A | CA361708697 | SLC26A2 | c.1749T>A (p.Phe583Leu) c.372+2991T>A (n.372+2991T>A) | gnomAD v4 |
| 5 | g.149981342T>C | CA447402910 | SLC26A2 | c.1749T>C (p.Phe583=) c.372+2991T>C (n.372+2991T>C) | |
| 5 | g.149981342T>G | CA361708698 | SLC26A2 | c.1749T>G (p.Phe583Leu) c.372+2991T>G (n.372+2991T>G) | |
| 5 | g.149981343G>A | CA361708699 | SLC26A2 | c.1750G>A (p.Val584Ile) c.372+2992G>A (n.372+2992G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981343G>C | CA361708701 | SLC26A2 | c.1750G>C (p.Val584Leu) c.372+2992G>C (n.372+2992G>C) | dbSNP |
| 5 | g.149981343G= | CA1590738738 | SLC26A2 | c.1750G= (p.Val584=) c.372+2992G= (n.372+2992G=) | |
| 5 | g.149981343G>T | CA361708700 | SLC26A2 | c.1750G>T (p.Val584Leu) c.372+2992G>T (n.372+2992G>T) |