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.149981635T>A | CA361709687 | SLC26A2 | c.2042T>A (p.Val681Asp) c.372+3284T>A (n.372+3284T>A) | ClinVar dbSNP |
| 5 | g.149981635T>C | CA361709688 | SLC26A2 | c.2042T>C (p.Val681Ala) c.372+3284T>C (n.372+3284T>C) | |
| 5 | g.149981635T>G | CA361709689 | SLC26A2 | c.2042T>G (p.Val681Gly) c.372+3284T>G (n.372+3284T>G) | gnomAD v4 |
| 5 | g.149981635T= | CA1590738868 | SLC26A2 | c.2042T= (p.Val681=) c.372+3284T= (n.372+3284T=) | |
| 5 | g.149981636T>A | CA447149100 | SLC26A2 | c.2043T>A (p.Val681=) c.372+3285T>A (n.372+3285T>A) | |
| 5 | g.149981636T>C | CA447149106 | SLC26A2 | c.2043T>C (p.Val681=) c.372+3285T>C (n.372+3285T>C) | |
| 5 | g.149981636T>G | CA447149109 | SLC26A2 | c.2043T>G (p.Val681=) c.372+3285T>G (n.372+3285T>G) | |
| 5 | g.149981637C>A | CA361709690 | SLC26A2 | c.2044C>A (p.Leu682Met) c.372+3286C>A (n.372+3286C>A) | |
| 5 | g.149981637C= | CA1590738869 | SLC26A2 | c.2044C= (p.Leu682=) c.372+3286C= (n.372+3286C=) | |
| 5 | g.149981637C>G | CA3505541 | SLC26A2 | c.2044C>G (p.Leu682Val) c.372+3286C>G (n.372+3286C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981637C>T | CA447149110 | SLC26A2 | c.2044C>T (p.Leu682=) c.372+3286C>T (n.372+3286C>T) | |
| 5 | g.149981638T>A | CA361709691 | SLC26A2 | c.2045T>A (p.Leu682Gln) c.372+3287T>A (n.372+3287T>A) | |
| 5 | g.149981638T>C | CA361709692 | SLC26A2 | c.2045T>C (p.Leu682Pro) c.372+3287T>C (n.372+3287T>C) | |
| 5 | g.149981638T>G | CA361709693 | SLC26A2 | c.2045T>G (p.Leu682Arg) c.372+3287T>G (n.372+3287T>G) | |
| 5 | g.149981639G>A | CA3505542 | SLC26A2 | c.2046G>A (p.Leu682=) c.372+3288G>A (n.372+3288G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981639G>C | CA447149111 | SLC26A2 | c.2046G>C (p.Leu682=) c.372+3288G>C (n.372+3288G>C) | |
| 5 | g.149981639G= | CA1590738870 | SLC26A2 | c.2046G= (p.Leu682=) c.372+3288G= (n.372+3288G=) | |
| 5 | g.149981639G>T | CA129084834 | SLC26A2 | c.2046G>T (p.Leu682=) c.372+3288G>T (n.372+3288G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981640C>A | CA361709694 | SLC26A2 | c.2047C>A (p.Leu683Met) c.372+3289C>A (n.372+3289C>A) | |
| 5 | g.149981640C>G | CA361709695 | SLC26A2 | c.2047C>G (p.Leu683Val) c.372+3289C>G (n.372+3289C>G) | |
| 5 | g.149981640C>T | CA447149116 | SLC26A2 | c.2047C>T (p.Leu683=) c.372+3289C>T (n.372+3289C>T) | |
| 5 | g.149981641T>A | CA361709696 | SLC26A2 | c.2048T>A (p.Leu683Gln) c.372+3290T>A (n.372+3290T>A) | |
| 5 | g.149981641T>C | CA361709697 | SLC26A2 | c.2048T>C (p.Leu683Pro) c.372+3290T>C (n.372+3290T>C) | |
| 5 | g.149981641T>G | CA361709698 | SLC26A2 | c.2048T>G (p.Leu683Arg) c.372+3290T>G (n.372+3290T>G) | |
| 5 | g.149981642G>A | CA447149122 | SLC26A2 | c.2049G>A (p.Leu683=) c.372+3291G>A (n.372+3291G>A) | gnomAD v4 |
| 5 | g.149981642G>C | CA447149125 | SLC26A2 | c.2049G>C (p.Leu683=) c.372+3291G>C (n.372+3291G>C) | gnomAD v4 |
| 5 | g.149981642G>T | CA447149126 | SLC26A2 | c.2049G>T (p.Leu683=) c.372+3291G>T (n.372+3291G>T) | ClinVar dbSNP |
| 5 | g.149981643G>A | CA361709700 | SLC26A2 | c.2050G>A (p.Ala684Thr) c.372+3292G>A (n.372+3292G>A) | |
| 5 | g.149981643G>C | CA3505543 | SLC26A2 | c.2050G>C (p.Ala684Pro) c.372+3292G>C (n.372+3292G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981643G= | CA1590738871 | SLC26A2 | c.2050G= (p.Ala684=) c.372+3292G= (n.372+3292G=) | |
| 5 | g.149981643G>T | CA361709699 | SLC26A2 | c.2050G>T (p.Ala684Ser) c.372+3292G>T (n.372+3292G>T) | |
| 5 | g.149981644C>A | CA361709701 | SLC26A2 | c.2051C>A (p.Ala684Asp) c.372+3293C>A (n.372+3293C>A) | |
| 5 | g.149981644C= | CA1590738872 | SLC26A2 | c.2051C= (p.Ala684=) c.372+3293C= (n.372+3293C=) | |
| 5 | g.149981644C>G | CA361709702 | SLC26A2 | c.2051C>G (p.Ala684Gly) c.372+3293C>G (n.372+3293C>G) | |
| 5 | g.149981644C>T | CA3505544 | SLC26A2 | c.2051C>T (p.Ala684Val) c.372+3293C>T (n.372+3293C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981645T>A | CA447149143 | SLC26A2 | c.2052T>A (p.Ala684=) c.372+3294T>A (n.372+3294T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981645T>C | CA447149142 | SLC26A2 | c.2052T>C (p.Ala684=) c.372+3294T>C (n.372+3294T>C) | |
| 5 | g.149981645T>G | CA447149140 | SLC26A2 | c.2052T>G (p.Ala684=) c.372+3294T>G (n.372+3294T>G) | |
| 5 | g.149981645T= | CA1590738873 | SLC26A2 | c.2052T= (p.Ala684=) c.372+3294T= (n.372+3294T=) | |
| 5 | g.149981646C>A | CA361709703 | SLC26A2 | c.2053C>A (p.Gln685Lys) c.372+3295C>A (n.372+3295C>A) | |
| 5 | g.149981646C>G | CA361709704 | SLC26A2 | c.2053C>G (p.Gln685Glu) c.372+3295C>G (n.372+3295C>G) | |
| 5 | g.149981646C>T | CA361709705 | SLC26A2 | c.2053C>T (p.Gln685Ter) c.372+3295C>T (n.372+3295C>T) | |
| 5 | g.149981647A= | CA1590738874 | SLC26A2 | c.2054A= (p.Gln685=) c.372+3296A= (n.372+3296A=) | |
| 5 | g.149981647A>C | CA361709708 | SLC26A2 | c.2054A>C (p.Gln685Pro) c.372+3296A>C (n.372+3296A>C) | |
| 5 | g.149981647A>G | CA361709706 | SLC26A2 | c.2054A>G (p.Gln685Arg) c.372+3296A>G (n.372+3296A>G) | dbSNP |
| 5 | g.149981647A>T | CA361709707 | SLC26A2 | c.2054A>T (p.Gln685Leu) c.372+3296A>T (n.372+3296A>T) | dbSNP |
| 5 | g.149981648G>A | CA447149154 | SLC26A2 | c.2055G>A (p.Gln685=) c.372+3297G>A (n.372+3297G>A) | ClinVar dbSNP |
| 5 | g.149981648G>C | CA361709709 | SLC26A2 | c.2055G>C (p.Gln685His) c.372+3297G>C (n.372+3297G>C) | |
| 5 | g.149981648G>T | CA361709710 | SLC26A2 | c.2055G>T (p.Gln685His) c.372+3297G>T (n.372+3297G>T) | |
| 5 | g.149981649del | CA2695198768 | SLC26A2 | c.2056del (p.Cys686AlafsTer5) c.372+3298del (n.372+3298del) | ClinVar |
| 5 | g.149981649T>A | CA361709711 | SLC26A2 | c.2056T>A (p.Cys686Ser) c.372+3298T>A (n.372+3298T>A) | |
| 5 | g.149981649T>C | CA361709712 | SLC26A2 | c.2056T>C (p.Cys686Arg) c.372+3298T>C (n.372+3298T>C) | |
| 5 | g.149981649T>G | CA361709713 | SLC26A2 | c.2056T>G (p.Cys686Gly) c.372+3298T>G (n.372+3298T>G) | gnomAD v4 |
| 5 | g.149981650G>A | CA361709714 | SLC26A2 | c.2057G>A (p.Cys686Tyr) c.372+3299G>A (n.372+3299G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981650G>C | CA361709716 | SLC26A2 | c.2057G>C (p.Cys686Ser) c.372+3299G>C (n.372+3299G>C) | |
| 5 | g.149981650G= | CA1590738875 | SLC26A2 | c.2057G= (p.Cys686=) c.372+3299G= (n.372+3299G=) | |
| 5 | g.149981650G>T | CA361709715 | SLC26A2 | c.2057G>T (p.Cys686Phe) c.372+3299G>T (n.372+3299G>T) | |
| 5 | g.149981651C>A | CA361709717 | SLC26A2 | c.2058C>A (p.Cys686Ter) c.372+3300C>A (n.372+3300C>A) | |
| 5 | g.149981651C= | CA1590738876 | SLC26A2 | c.2058C= (p.Cys686=) c.372+3300C= (n.372+3300C=) | |
| 5 | g.149981651C>G | CA361709718 | SLC26A2 | c.2058C>G (p.Cys686Trp) c.372+3300C>G (n.372+3300C>G) | gnomAD v4 |
| 5 | g.149981651C>T | CA3505545 | SLC26A2 | c.2058C>T (p.Cys686=) c.372+3300C>T (n.372+3300C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981652A= | CA1590738877 | SLC26A2 | c.2059A= (p.Asn687=) c.372+3301A= (n.372+3301A=) | |
| 5 | g.149981652A>C | CA361709719 | SLC26A2 | c.2059A>C (p.Asn687His) c.372+3301A>C (n.372+3301A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981652A>G | CA361709720 | SLC26A2 | c.2059A>G (p.Asn687Asp) c.372+3301A>G (n.372+3301A>G) | |
| 5 | g.149981652A>T | CA361709721 | SLC26A2 | c.2059A>T (p.Asn687Tyr) c.372+3301A>T (n.372+3301A>T) | |
| 5 | g.149981653A= | CA1590738878 | SLC26A2 | c.2060A= (p.Asn687=) c.372+3302A= (n.372+3302A=) | |
| 5 | g.149981653A>C | CA361709722 | SLC26A2 | c.2060A>C (p.Asn687Thr) c.372+3302A>C (n.372+3302A>C) | |
| 5 | g.149981653A>G | CA361709723 | SLC26A2 | c.2060A>G (p.Asn687Ser) c.372+3302A>G (n.372+3302A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981653A>T | CA361709724 | SLC26A2 | c.2060A>T (p.Asn687Ile) c.372+3302A>T (n.372+3302A>T) | |
| 5 | g.149981654del | CA2675943659 | SLC26A2 | c.2061del (p.Thr689LeufsTer2) c.372+3303del (n.372+3303del) | gnomAD v4 |
| 5 | g.149981654T>A | CA361709725 | SLC26A2 | c.2061T>A (p.Asn687Lys) c.372+3303T>A (n.372+3303T>A) | |
| 5 | g.149981654T>C | CA447149181 | SLC26A2 | c.2061T>C (p.Asn687=) c.372+3303T>C (n.372+3303T>C) | |
| 5 | g.149981654T>G | CA361709726 | SLC26A2 | c.2061T>G (p.Asn687Lys) c.372+3303T>G (n.372+3303T>G) | gnomAD v4 |
| 5 | g.149981655C>A | CA361709727 | SLC26A2 | c.2062C>A (p.Pro688Thr) c.372+3304C>A (n.372+3304C>A) | |
| 5 | g.149981655C= | CA1590738879 | SLC26A2 | c.2062C= (p.Pro688=) c.372+3304C= (n.372+3304C=) | |
| 5 | g.149981655C>G | CA3505546 | SLC26A2 | c.2062C>G (p.Pro688Ala) c.372+3304C>G (n.372+3304C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981655C>T | CA3505547 | SLC26A2 | c.2062C>T (p.Pro688Ser) c.372+3304C>T (n.372+3304C>T) | dbSNP ExAC gnomAD v2 |
| 5 | g.149981656C>A | CA361709728 | SLC26A2 | c.2063C>A (p.Pro688His) c.372+3305C>A (n.372+3305C>A) | |
| 5 | g.149981656C= | CA1590738881 | SLC26A2 | c.2063C= (p.Pro688=) c.372+3305C= (n.372+3305C=) | |
| 5 | g.149981656C>G | CA361709730 | SLC26A2 | c.2063C>G (p.Pro688Arg) c.372+3305C>G (n.372+3305C>G) | |
| 5 | g.149981656C>T | CA361709729 | SLC26A2 | c.2063C>T (p.Pro688Leu) c.372+3305C>T (n.372+3305C>T) | dbSNP |
| 5 | g.149981656_149981658delinsCCA | CA1590738880 | SLC26A2 | c.2063_2065delinsCCA (p.Pro688=) c.372+3305_372+3307delinsCCA (n.372+3305_372+3307delinsCCA) | |
| 5 | g.149981657C>A | CA447149192 | SLC26A2 | c.2064C>A (p.Pro688=) c.372+3306C>A (n.372+3306C>A) | |
| 5 | g.149981657C>G | CA447149193 | SLC26A2 | c.2064C>G (p.Pro688=) c.372+3306C>G (n.372+3306C>G) | ClinVar |
| 5 | g.149981657C>T | CA447149195 | SLC26A2 | c.2064C>T (p.Pro688=) c.372+3306C>T (n.372+3306C>T) | |
| 5 | g.149981657_149981658insTC | CA2675943660 | SLC26A2 | c.2064_2065insTC (p.Thr689SerfsTer3) c.372+3306_372+3307insTC (n.372+3306_372+3307insTC) | gnomAD v4 |
| 5 | g.149981658_149981659del | CA3505548 | SLC26A2 | c.2065_2066del (p.Thr689CysfsTer22) c.372+3307_372+3308del (n.372+3307_372+3308del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981658A= | CA1590738882 | SLC26A2 | c.2065A= (p.Thr689=) c.372+3307A= (n.372+3307A=) | |
| 5 | g.149981658A>C | CA361709731 | SLC26A2 | c.2065A>C (p.Thr689Pro) c.372+3307A>C (n.372+3307A>C) | |
| 5 | g.149981658A>G | CA3505549 | SLC26A2 | c.2065A>G (p.Thr689Ala) c.372+3307A>G (n.372+3307A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981658A>T | CA202201 | SLC26A2 | c.2065A>T (p.Thr689Ser) c.372+3307A>T (n.372+3307A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981658_149981661delinsTC | CA2695198769 | SLC26A2 | c.2065_2068delinsTC (p.Thr689SerfsTer22) c.372+3307_372+3310delinsTC (n.372+3307_372+3310delinsTC) | ClinVar |
| 5 | g.149981659C>A | CA361709732 | SLC26A2 | c.2066C>A (p.Thr689Asn) c.372+3308C>A (n.372+3308C>A) | |
| 5 | g.149981659C>G | CA361709733 | SLC26A2 | c.2066C>G (p.Thr689Ser) c.372+3308C>G (n.372+3308C>G) | |
| 5 | g.149981659C>T | CA361709734 | SLC26A2 | c.2066C>T (p.Thr689Ile) c.372+3308C>T (n.372+3308C>T) | |
| 5 | g.149981659_149981661delinsCTG | CA1590738883 | SLC26A2 | c.2066_2068delinsCTG (p.Thr689=) c.372+3308_372+3310delinsCTG (n.372+3308_372+3310delinsCTG) | |
| 5 | g.149981660T>A | CA447149209 | SLC26A2 | c.2067T>A (p.Thr689=) c.372+3309T>A (n.372+3309T>A) | |
| 5 | g.149981660T>C | CA129084860 | SLC26A2 | c.2067T>C (p.Thr689=) c.372+3309T>C (n.372+3309T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981660T>G | CA447149211 | SLC26A2 | c.2067T>G (p.Thr689=) c.372+3309T>G (n.372+3309T>G) | |
| 5 | g.149981660T= | CA1590738884 | SLC26A2 | c.2067T= (p.Thr689=) c.372+3309T= (n.372+3309T=) | |
| 5 | g.149981662_149981663del | CA1590738885 | SLC26A2 | c.2069_2070del (p.Val690GlufsTer21) c.372+3311_372+3312del (n.372+3311_372+3312del) | ClinVar dbSNP |
| 5 | g.149981661G>A | CA361709735 | SLC26A2 | c.2068G>A (p.Val690Met) c.372+3310G>A (n.372+3310G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981661G>C | CA3505550 | SLC26A2 | c.2068G>C (p.Val690Leu) c.372+3310G>C (n.372+3310G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981661G= | CA1590738886 | SLC26A2 | c.2068G= (p.Val690=) c.372+3310G= (n.372+3310G=) | |
| 5 | g.149981661G>T | CA361709736 | SLC26A2 | c.2068G>T (p.Val690Leu) c.372+3310G>T (n.372+3310G>T) | |
| 5 | g.149981662T>A | CA361709737 | SLC26A2 | c.2069T>A (p.Val690Glu) c.372+3311T>A (n.372+3311T>A) | |
| 5 | g.149981662T>C | CA361709738 | SLC26A2 | c.2069T>C (p.Val690Ala) c.372+3311T>C (n.372+3311T>C) | |
| 5 | g.149981662T>G | CA361709739 | SLC26A2 | c.2069T>G (p.Val690Gly) c.372+3311T>G (n.372+3311T>G) | |
| 5 | g.149981663G>A | CA447149222 | SLC26A2 | c.2070G>A (p.Val690=) c.372+3312G>A (n.372+3312G>A) | |
| 5 | g.149981663G>C | CA447149224 | SLC26A2 | c.2070G>C (p.Val690=) c.372+3312G>C (n.372+3312G>C) | |
| 5 | g.149981663G>T | CA447149226 | SLC26A2 | c.2070G>T (p.Val690=) c.372+3312G>T (n.372+3312G>T) | |
| 5 | g.149981664A>C | CA447149229 | SLC26A2 | c.2071A>C (p.Arg691=) c.372+3313A>C (n.372+3313A>C) | |
| 5 | g.149981664A>G | CA361709740 | SLC26A2 | c.2071A>G (p.Arg691Gly) c.372+3313A>G (n.372+3313A>G) | |
| 5 | g.149981664A>T | CA361709741 | SLC26A2 | c.2071A>T (p.Arg691Trp) c.372+3313A>T (n.372+3313A>T) | |
| 5 | g.149981665G>A | CA361709742 | SLC26A2 | c.2072G>A (p.Arg691Lys) c.372+3314G>A (n.372+3314G>A) | |
| 5 | g.149981665G>C | CA361709743 | SLC26A2 | c.2072G>C (p.Arg691Thr) c.372+3314G>C (n.372+3314G>C) | |
| 5 | g.149981665G>T | CA361709744 | SLC26A2 | c.2072G>T (p.Arg691Met) c.372+3314G>T (n.372+3314G>T) | |
| 5 | g.149981666G>A | CA447149239 | SLC26A2 | c.2073G>A (p.Arg691=) c.372+3315G>A (n.372+3315G>A) | dbSNP |
| 5 | g.149981666G>C | CA361709745 | SLC26A2 | c.2073G>C (p.Arg691Ser) c.372+3315G>C (n.372+3315G>C) | |
| 5 | g.149981666G= | CA1590738887 | SLC26A2 | c.2073G= (p.Arg691=) c.372+3315G= (n.372+3315G=) | |
| 5 | g.149981666G>T | CA361709746 | SLC26A2 | c.2073G>T (p.Arg691Ser) c.372+3315G>T (n.372+3315G>T) | |
| 5 | g.149981667G>A | CA361709747 | SLC26A2 | c.2074G>A (p.Asp692Asn) c.372+3316G>A (n.372+3316G>A) | |
| 5 | g.149981667G>C | CA361709748 | SLC26A2 | c.2074G>C (p.Asp692His) c.372+3316G>C (n.372+3316G>C) | |
| 5 | g.149981667G>T | CA361709749 | SLC26A2 | c.2074G>T (p.Asp692Tyr) c.372+3316G>T (n.372+3316G>T) | gnomAD v4 |
| 5 | g.149981668A>C | CA361709750 | SLC26A2 | c.2075A>C (p.Asp692Ala) c.372+3317A>C (n.372+3317A>C) | |
| 5 | g.149981668A>G | CA361709751 | SLC26A2 | c.2075A>G (p.Asp692Gly) c.372+3317A>G (n.372+3317A>G) | |
| 5 | g.149981668A>T | CA361709752 | SLC26A2 | c.2075A>T (p.Asp692Val) c.372+3317A>T (n.372+3317A>T) | |
| 5 | g.149981669T>A | CA361709753 | SLC26A2 | c.2076T>A (p.Asp692Glu) c.372+3318T>A (n.372+3318T>A) | |
| 5 | g.149981669T>C | CA447149252 | SLC26A2 | c.2076T>C (p.Asp692=) c.372+3318T>C (n.372+3318T>C) | |
| 5 | g.149981669T>G | CA361709754 | SLC26A2 | c.2076T>G (p.Asp692Glu) c.372+3318T>G (n.372+3318T>G) | |
| 5 | g.149981670T>A | CA361709757 | SLC26A2 | c.2077T>A (p.Ser693Thr) c.372+3319T>A (n.372+3319T>A) | |
| 5 | g.149981670T>C | CA361709755 | SLC26A2 | c.2077T>C (p.Ser693Pro) c.372+3319T>C (n.372+3319T>C) | |
| 5 | g.149981670T>G | CA361709756 | SLC26A2 | c.2077T>G (p.Ser693Ala) c.372+3319T>G (n.372+3319T>G) | |
| 5 | g.149981671C>A | CA361709758 | SLC26A2 | c.2078C>A (p.Ser693Tyr) c.372+3320C>A (n.372+3320C>A) | |
| 5 | g.149981671C>G | CA361709759 | SLC26A2 | c.2078C>G (p.Ser693Cys) c.372+3320C>G (n.372+3320C>G) | gnomAD v4 |
| 5 | g.149981671C>T | CA361709760 | SLC26A2 | c.2078C>T (p.Ser693Phe) c.372+3320C>T (n.372+3320C>T) | |
| 5 | g.149981672C>A | CA447149261 | SLC26A2 | c.2079C>A (p.Ser693=) c.372+3321C>A (n.372+3321C>A) | |
| 5 | g.149981672C>G | CA447149263 | SLC26A2 | c.2079C>G (p.Ser693=) c.372+3321C>G (n.372+3321C>G) | |
| 5 | g.149981672C>T | CA447149264 | SLC26A2 | c.2079C>T (p.Ser693=) c.372+3321C>T (n.372+3321C>T) | COSMIC |
| 5 | g.149981673C>A | CA361709761 | SLC26A2 | c.2080C>A (p.Leu694Ile) c.372+3322C>A (n.372+3322C>A) | COSMIC |
| 5 | g.149981673C>G | CA361709762 | SLC26A2 | c.2080C>G (p.Leu694Val) c.372+3322C>G (n.372+3322C>G) | gnomAD v4 |
| 5 | g.149981673C>T | CA447149268 | SLC26A2 | c.2080C>T (p.Leu694=) c.372+3322C>T (n.372+3322C>T) | ClinVar |
| 5 | g.149981674T>A | CA361709765 | SLC26A2 | c.2081T>A (p.Leu694Gln) c.372+3323T>A (n.372+3323T>A) | |
| 5 | g.149981674T>C | CA361709764 | SLC26A2 | c.2081T>C (p.Leu694Pro) c.372+3323T>C (n.372+3323T>C) | |
| 5 | g.149981674T>G | CA361709763 | SLC26A2 | c.2081T>G (p.Leu694Arg) c.372+3323T>G (n.372+3323T>G) | |
| 5 | g.149981675A= | CA1590738888 | SLC26A2 | c.2082A= (p.Leu694=) c.372+3324A= (n.372+3324A=) | |
| 5 | g.149981675A>C | CA447149271 | SLC26A2 | c.2082A>C (p.Leu694=) c.372+3324A>C (n.372+3324A>C) | gnomAD v4 |
| 5 | g.149981675A>G | CA447149273 | SLC26A2 | c.2082A>G (p.Leu694=) c.372+3324A>G (n.372+3324A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981675A>T | CA447149275 | SLC26A2 | c.2082A>T (p.Leu694=) c.372+3324A>T (n.372+3324A>T) | |
| 5 | g.149981676A>C | CA361709766 | SLC26A2 | c.2083A>C (p.Thr695Pro) c.372+3325A>C (n.372+3325A>C) | |
| 5 | g.149981676A>G | CA361709767 | SLC26A2 | c.2083A>G (p.Thr695Ala) c.372+3325A>G (n.372+3325A>G) | |
| 5 | g.149981676A>T | CA361709768 | SLC26A2 | c.2083A>T (p.Thr695Ser) c.372+3325A>T (n.372+3325A>T) | |
| 5 | g.149981677C>A | CA361709769 | SLC26A2 | c.2084C>A (p.Thr695Asn) c.372+3326C>A (n.372+3326C>A) | |
| 5 | g.149981677C>G | CA361709770 | SLC26A2 | c.2084C>G (p.Thr695Ser) c.372+3326C>G (n.372+3326C>G) | |
| 5 | g.149981677C>T | CA361709771 | SLC26A2 | c.2084C>T (p.Thr695Ile) c.372+3326C>T (n.372+3326C>T) | dbSNP |
| 5 | g.149981678del | CA2740094151 | SLC26A2 | c.2085del (p.Asn696ThrfsTer?) c.372+3327del (n.372+3327del) | ClinVar |
| 5 | g.149981678C>A | CA447149290 | SLC26A2 | c.2085C>A (p.Thr695=) c.372+3327C>A (n.372+3327C>A) | |
| 5 | g.149981678C= | CA1590738889 | SLC26A2 | c.2085C= (p.Thr695=) c.372+3327C= (n.372+3327C=) | |
| 5 | g.149981678C>G | CA447149289 | SLC26A2 | c.2085C>G (p.Thr695=) c.372+3327C>G (n.372+3327C>G) | ClinVar dbSNP |
| 5 | g.149981678C>T | CA447149286 | SLC26A2 | c.2085C>T (p.Thr695=) c.372+3327C>T (n.372+3327C>T) | |
| 5 | g.149981679A>C | CA361709774 | SLC26A2 | c.2086A>C (p.Asn696His) c.372+3328A>C (n.372+3328A>C) | |
| 5 | g.149981679A>G | CA361709772 | SLC26A2 | c.2086A>G (p.Asn696Asp) c.372+3328A>G (n.372+3328A>G) | |
| 5 | g.149981679A>T | CA361709773 | SLC26A2 | c.2086A>T (p.Asn696Tyr) c.372+3328A>T (n.372+3328A>T) | |
| 5 | g.149981680dup | CA2580073969 | SLC26A2 | c.2087dup (p.Asn696LysfsTer16) c.372+3329dup (n.372+3329dup) | ClinVar |
| 5 | g.149981680A= | CA1590738890 | SLC26A2 | c.2087A= (p.Asn696=) c.372+3329A= (n.372+3329A=) | |
| 5 | g.149981680A>C | CA361709775 | SLC26A2 | c.2087A>C (p.Asn696Thr) c.372+3329A>C (n.372+3329A>C) | |
| 5 | g.149981680A>G | CA3505551 | SLC26A2 | c.2087A>G (p.Asn696Ser) c.372+3329A>G (n.372+3329A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981680A>T | CA361709776 | SLC26A2 | c.2087A>T (p.Asn696Ile) c.372+3329A>T (n.372+3329A>T) | |
| 5 | g.149981681C>A | CA3505553 | SLC26A2 | c.2088C>A (p.Asn696Lys) c.372+3330C>A (n.372+3330C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981681C= | CA1590738891 | SLC26A2 | c.2088C= (p.Asn696=) c.372+3330C= (n.372+3330C=) | |
| 5 | g.149981681C>G | CA361709777 | SLC26A2 | c.2088C>G (p.Asn696Lys) c.372+3330C>G (n.372+3330C>G) | |
| 5 | g.149981681C>T | CA3505552 | SLC26A2 | c.2088C>T (p.Asn696=) c.372+3330C>T (n.372+3330C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.149981681_149981682delinsGT | CA2740094152 | SLC26A2 | c.2088_2089delinsGT (p.Asn696LysfsTer2) c.372+3330_372+3331delinsGT (n.372+3330_372+3331delinsGT) | ClinVar |
| 5 | g.149981681_149981683del | CA2675943662 | SLC26A2 | c.2088_2090del (p.Asn696_Gly697delinsLys) c.372+3330_372+3332del (n.372+3330_372+3332del) | gnomAD v4 |
| 5 | g.149981682G>A | CA3505554 | SLC26A2 | c.2089G>A (p.Gly697Arg) c.372+3331G>A (n.372+3331G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981682G>C | CA361709778 | SLC26A2 | c.2089G>C (p.Gly697Arg) c.372+3331G>C (n.372+3331G>C) | |
| 5 | g.149981682G= | CA1590738892 | SLC26A2 | c.2089G= (p.Gly697=) c.372+3331G= (n.372+3331G=) | |
| 5 | g.149981682G>T | CA361709779 | SLC26A2 | c.2089G>T (p.Gly697Ter) c.372+3331G>T (n.372+3331G>T) | |
| 5 | g.149981682_149981683del | CA2675943658 | SLC26A2 | c.2089_2090del (p.Gly697ArgfsTer14) c.372+3331_372+3332del (n.372+3331_372+3332del) | gnomAD v4 |
| 5 | g.149981683G>A | CA361709780 | SLC26A2 | c.2090G>A (p.Gly697Glu) c.372+3332G>A (n.372+3332G>A) | gnomAD v4 |
| 5 | g.149981683G>C | CA361709781 | SLC26A2 | c.2090G>C (p.Gly697Ala) c.372+3332G>C (n.372+3332G>C) | |
| 5 | g.149981683G>T | CA361709782 | SLC26A2 | c.2090G>T (p.Gly697Val) c.372+3332G>T (n.372+3332G>T) | |
| 5 | g.149981684A= | CA1590738893 | SLC26A2 | c.2091A= (p.Gly697=) c.372+3333A= (n.372+3333A=) | |
| 5 | g.149981684A>C | CA447149312 | SLC26A2 | c.2091A>C (p.Gly697=) c.372+3333A>C (n.372+3333A>C) | dbSNP |
| 5 | g.149981684A>G | CA447149317 | SLC26A2 | c.2091A>G (p.Gly697=) c.372+3333A>G (n.372+3333A>G) | |
| 5 | g.149981684A>T | CA447149314 | SLC26A2 | c.2091A>T (p.Gly697=) c.372+3333A>T (n.372+3333A>T) | |
| 5 | g.149981685G>A | CA361709783 | SLC26A2 | c.2092G>A (p.Glu698Lys) c.372+3334G>A (n.372+3334G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981685G>C | CA361709785 | SLC26A2 | c.2092G>C (p.Glu698Gln) c.372+3334G>C (n.372+3334G>C) | |
| 5 | g.149981685G= | CA1590738894 | SLC26A2 | c.2092G= (p.Glu698=) c.372+3334G= (n.372+3334G=) | |
| 5 | g.149981685G>T | CA361709784 | SLC26A2 | c.2092G>T (p.Glu698Ter) c.372+3334G>T (n.372+3334G>T) | COSMIC |
| 5 | g.149981686A>C | CA361709786 | SLC26A2 | c.2093A>C (p.Glu698Ala) c.372+3335A>C (n.372+3335A>C) | |
| 5 | g.149981686A>G | CA361709788 | SLC26A2 | c.2093A>G (p.Glu698Gly) c.372+3335A>G (n.372+3335A>G) | gnomAD v4 |
| 5 | g.149981686A>T | CA361709787 | SLC26A2 | c.2093A>T (p.Glu698Val) c.372+3335A>T (n.372+3335A>T) | |
| 5 | g.149981687A= | CA1590738895 | SLC26A2 | c.2094A= (p.Glu698=) c.372+3336A= (n.372+3336A=) | |
| 5 | g.149981687A>C | CA129084880 | SLC26A2 | c.2094A>C (p.Glu698Asp) c.372+3336A>C (n.372+3336A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981687A>G | CA3505555 | SLC26A2 | c.2094A>G (p.Glu698=) c.372+3336A>G (n.372+3336A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981687A>T | CA361709789 | SLC26A2 | c.2094A>T (p.Glu698Asp) c.372+3336A>T (n.372+3336A>T) | |
| 5 | g.149981688del | CA2580073970 | SLC26A2 | c.2095del (p.Tyr699IlefsTer?) c.372+3337del (n.372+3337del) | ClinVar gnomAD v4 |
| 5 | g.149981688T>A | CA361709790 | SLC26A2 | c.2095T>A (p.Tyr699Asn) c.372+3337T>A (n.372+3337T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981688T>C | CA361709791 | SLC26A2 | c.2095T>C (p.Tyr699His) c.372+3337T>C (n.372+3337T>C) | |
| 5 | g.149981688T>G | CA361709792 | SLC26A2 | c.2095T>G (p.Tyr699Asp) c.372+3337T>G (n.372+3337T>G) | |
| 5 | g.149981688T= | CA1590738896 | SLC26A2 | c.2095T= (p.Tyr699=) c.372+3337T= (n.372+3337T=) | |
| 5 | g.149981689A>C | CA361709793 | SLC26A2 | c.2096A>C (p.Tyr699Ser) c.372+3338A>C (n.372+3338A>C) | |
| 5 | g.149981689A>G | CA361709794 | SLC26A2 | c.2096A>G (p.Tyr699Cys) c.372+3338A>G (n.372+3338A>G) | gnomAD v4 |
| 5 | g.149981689A>T | CA361709795 | SLC26A2 | c.2096A>T (p.Tyr699Phe) c.372+3338A>T (n.372+3338A>T) | |
| 5 | g.149981689_149981693delinsATTGC | CA1590738897 | SLC26A2 | c.2096_2100delinsATTGC (p.Tyr699=) c.372+3338_372+3342delinsATTGC (n.372+3338_372+3342delinsATTGC) | |
| 5 | g.149981690T>A | CA361709796 | SLC26A2 | c.2097T>A (p.Tyr699Ter) c.372+3339T>A (n.372+3339T>A) | ClinVar dbSNP COSMIC |
| 5 | g.149981690T>C | CA3505556 | SLC26A2 | c.2097T>C (p.Tyr699=) c.372+3339T>C (n.372+3339T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981690T>G | CA361709797 | SLC26A2 | c.2097T>G (p.Tyr699Ter) c.372+3339T>G (n.372+3339T>G) | |
| 5 | g.149981690T= | CA1590738898 | SLC26A2 | c.2097T= (p.Tyr699=) c.372+3339T= (n.372+3339T=) | |
| 5 | g.149981690_149981693del | CA563955743 | SLC26A2 | c.2097_2100del (p.Tyr699Ter) c.372+3339_372+3342del (n.372+3339_372+3342del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981691T>A | CA361709800 | SLC26A2 | c.2098T>A (p.Cys700Ser) c.372+3340T>A (n.372+3340T>A) | |
| 5 | g.149981691T>C | CA361709798 | SLC26A2 | c.2098T>C (p.Cys700Arg) c.372+3340T>C (n.372+3340T>C) | |
| 5 | g.149981691T>G | CA361709799 | SLC26A2 | c.2098T>G (p.Cys700Gly) c.372+3340T>G (n.372+3340T>G) | |
| 5 | g.149981692G>A | CA361709801 | SLC26A2 | c.2099G>A (p.Cys700Tyr) c.372+3341G>A (n.372+3341G>A) | |
| 5 | g.149981692G>C | CA361709802 | SLC26A2 | c.2099G>C (p.Cys700Ser) c.372+3341G>C (n.372+3341G>C) | |
| 5 | g.149981692G>T | CA361709803 | SLC26A2 | c.2099G>T (p.Cys700Phe) c.372+3341G>T (n.372+3341G>T) | |
| 5 | g.149981692_149981693delinsGC | CA1590738899 | SLC26A2 | c.2099_2100delinsGC (p.Cys700=) c.372+3341_372+3342delinsGC (n.372+3341_372+3342delinsGC) | |
| 5 | g.149981693del | CA917607713 | SLC26A2 | c.2100del (p.Cys700Ter) c.372+3342del (n.372+3342del) | dbSNP |
| 5 | g.149981693C>A | CA361709804 | SLC26A2 | c.2100C>A (p.Cys700Ter) c.372+3342C>A (n.372+3342C>A) | COSMIC |
| 5 | g.149981693C= | CA1590738900 | SLC26A2 | c.2100C= (p.Cys700=) c.372+3342C= (n.372+3342C=) | |
| 5 | g.149981693C>G | CA361709805 | SLC26A2 | c.2100C>G (p.Cys700Trp) c.372+3342C>G (n.372+3342C>G) | |
| 5 | g.149981693C>T | CA3505557 | SLC26A2 | c.2100C>T (p.Cys700=) c.372+3342C>T (n.372+3342C>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149981694A= | CA1590738901 | SLC26A2 | c.2101A= (p.Lys701=) c.372+3343A= (n.372+3343A=) | |
| 5 | g.149981694A>C | CA361709806 | SLC26A2 | c.2101A>C (p.Lys701Gln) c.372+3343A>C (n.372+3343A>C) | gnomAD v4 |
| 5 | g.149981694A>G | CA361709807 | SLC26A2 | c.2101A>G (p.Lys701Glu) c.372+3343A>G (n.372+3343A>G) | |
| 5 | g.149981694A>T | CA361709808 | SLC26A2 | c.2101A>T (p.Lys701Ter) c.372+3343A>T (n.372+3343A>T) | dbSNP |
| 5 | g.149981698_149981699insAAAAAA | CA2768879752 | SLC26A2 | c.2105_2106insAAAAAA (p.Lys702_Glu703insLysLys) c.372+3347_372+3348insAAAAAA (n.372+3347_372+3348insAAAAAA) | |
| 5 | g.149981698_149981699insAAAAAAA | CA2768879755 | SLC26A2 | c.2105_2106insAAAAAAA (p.Glu703LysfsTer11) c.372+3347_372+3348insAAAAAAA (n.372+3347_372+3348insAAAAAAA) | |
| 5 | g.149981698dup | CA2573139283 | SLC26A2 | c.2105dup (p.Glu703GlyfsTer9) c.372+3347dup (n.372+3347dup) | ClinVar dbSNP |
| 5 | g.149981695_149981698dup | CA563955744 | SLC26A2 | c.2102_2105dup (p.Glu703LysfsTer10) c.372+3344_372+3347dup (n.372+3344_372+3347dup) | dbSNP gnomAD v2 |
| 5 | g.149981695A= | CA1590738902 | SLC26A2 | c.2102A= (p.Lys701=) c.372+3344A= (n.372+3344A=) | |
| 5 | g.149981695A>C | CA361709809 | SLC26A2 | c.2102A>C (p.Lys701Thr) c.372+3344A>C (n.372+3344A>C) | |
| 5 | g.149981695A>G | CA361709810 | SLC26A2 | c.2102A>G (p.Lys701Arg) c.372+3344A>G (n.372+3344A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981695A>T | CA361709811 | SLC26A2 | c.2102A>T (p.Lys701Ile) c.372+3344A>T (n.372+3344A>T) | |
| 5 | g.149981696A>C | CA361709812 | SLC26A2 | c.2103A>C (p.Lys701Asn) c.372+3345A>C (n.372+3345A>C) | |
| 5 | g.149981696A>G | CA447149360 | SLC26A2 | c.2103A>G (p.Lys701=) c.372+3345A>G (n.372+3345A>G) | |
| 5 | g.149981696A>T | CA361709813 | SLC26A2 | c.2103A>T (p.Lys701Asn) c.372+3345A>T (n.372+3345A>T) | |
| 5 | g.149981697A>C | CA361709814 | SLC26A2 | c.2104A>C (p.Lys702Gln) c.372+3346A>C (n.372+3346A>C) | |
| 5 | g.149981697A>G | CA361709815 | SLC26A2 | c.2104A>G (p.Lys702Glu) c.372+3346A>G (n.372+3346A>G) | |
| 5 | g.149981697A>T | CA361709816 | SLC26A2 | c.2104A>T (p.Lys702Ter) c.372+3346A>T (n.372+3346A>T) | |
| 5 | g.149981698A>C | CA361709817 | SLC26A2 | c.2105A>C (p.Lys702Thr) c.372+3347A>C (n.372+3347A>C) | |
| 5 | g.149981698A>G | CA361709818 | SLC26A2 | c.2105A>G (p.Lys702Arg) c.372+3347A>G (n.372+3347A>G) | |
| 5 | g.149981698A>T | CA361709819 | SLC26A2 | c.2105A>T (p.Lys702Met) c.372+3347A>T (n.372+3347A>T) | |
| 5 | g.149981699G>A | CA447149363 | SLC26A2 | c.2106G>A (p.Lys702=) c.372+3348G>A (n.372+3348G>A) | |
| 5 | g.149981699G>C | CA361709820 | SLC26A2 | c.2106G>C (p.Lys702Asn) c.372+3348G>C (n.372+3348G>C) | |
| 5 | g.149981699G>T | CA361709821 | SLC26A2 | c.2106G>T (p.Lys702Asn) c.372+3348G>T (n.372+3348G>T) | gnomAD v4 |
| 5 | g.149981700G>A | CA361709822 | SLC26A2 | c.2107G>A (p.Glu703Lys) c.372+3349G>A (n.372+3349G>A) | gnomAD v4 |
| 5 | g.149981700G>C | CA361709823 | SLC26A2 | c.2107G>C (p.Glu703Gln) c.372+3349G>C (n.372+3349G>C) | |
| 5 | g.149981700G>T | CA361709824 | SLC26A2 | c.2107G>T (p.Glu703Ter) c.372+3349G>T (n.372+3349G>T) | |
| 5 | g.149981706_149981708del | CA2675943661 | SLC26A2 | c.2113_2115del (p.Glu705del) c.372+3355_372+3357del (n.372+3355_372+3357del) | gnomAD v4 |
| 5 | g.149981701A>C | CA361709825 | SLC26A2 | c.2108A>C (p.Glu703Ala) c.372+3350A>C (n.372+3350A>C) | |
| 5 | g.149981701A>G | CA361709826 | SLC26A2 | c.2108A>G (p.Glu703Gly) c.372+3350A>G (n.372+3350A>G) | |
| 5 | g.149981701A>T | CA361709827 | SLC26A2 | c.2108A>T (p.Glu703Val) c.372+3350A>T (n.372+3350A>T) | |
| 5 | g.149981702del | CA2580073971 | SLC26A2 | c.2109del (p.Glu704LysfsTer?) c.372+3351del (n.372+3351del) | ClinVar |
| 5 | g.149981702A>C | CA361709828 | SLC26A2 | c.2109A>C (p.Glu703Asp) c.372+3351A>C (n.372+3351A>C) | |
| 5 | g.149981702A>G | CA447149371 | SLC26A2 | c.2109A>G (p.Glu703=) c.372+3351A>G (n.372+3351A>G) | |
| 5 | g.149981702A>T | CA361709829 | SLC26A2 | c.2109A>T (p.Glu703Asp) c.372+3351A>T (n.372+3351A>T) | |
| 5 | g.149981703G>A | CA361709830 | SLC26A2 | c.2110G>A (p.Glu704Lys) c.372+3352G>A (n.372+3352G>A) | gnomAD v4 |
| 5 | g.149981703G>C | CA361709831 | SLC26A2 | c.2110G>C (p.Glu704Gln) c.372+3352G>C (n.372+3352G>C) | |
| 5 | g.149981703G>T | CA361709832 | SLC26A2 | c.2110G>T (p.Glu704Ter) c.372+3352G>T (n.372+3352G>T) | |
| 5 | g.149981704A>C | CA361709833 | SLC26A2 | c.2111A>C (p.Glu704Ala) c.372+3353A>C (n.372+3353A>C) | |
| 5 | g.149981704A>G | CA361709834 | SLC26A2 | c.2111A>G (p.Glu704Gly) c.372+3353A>G (n.372+3353A>G) | |
| 5 | g.149981704A>T | CA361709835 | SLC26A2 | c.2111A>T (p.Glu704Val) c.372+3353A>T (n.372+3353A>T) | |
| 5 | g.149981705A>C | CA361709836 | SLC26A2 | c.2112A>C (p.Glu704Asp) c.372+3354A>C (n.372+3354A>C) | |
| 5 | g.149981705A>G | CA447149382 | SLC26A2 | c.2112A>G (p.Glu704=) c.372+3354A>G (n.372+3354A>G) | |
| 5 | g.149981705A>T | CA361709837 | SLC26A2 | c.2112A>T (p.Glu704Asp) c.372+3354A>T (n.372+3354A>T) | |
| 5 | g.149981706G>A | CA361709838 | SLC26A2 | c.2113G>A (p.Glu705Lys) c.372+3355G>A (n.372+3355G>A) | |
| 5 | g.149981706G>C | CA361709839 | SLC26A2 | c.2113G>C (p.Glu705Gln) c.372+3355G>C (n.372+3355G>C) | |
| 5 | g.149981706G= | CA1590738903 | SLC26A2 | c.2113G= (p.Glu705=) c.372+3355G= (n.372+3355G=) | |
| 5 | g.149981706G>T | CA361709840 | SLC26A2 | c.2113G>T (p.Glu705Ter) c.372+3355G>T (n.372+3355G>T) | |
| 5 | g.149981707A= | CA1590738904 | SLC26A2 | c.2114A= (p.Glu705=) c.372+3356A= (n.372+3356A=) | |
| 5 | g.149981707A>C | CA361709841 | SLC26A2 | c.2114A>C (p.Glu705Ala) c.372+3356A>C (n.372+3356A>C) | |
| 5 | g.149981707A>G | CA361709843 | SLC26A2 | c.2114A>G (p.Glu705Gly) c.372+3356A>G (n.372+3356A>G) | |
| 5 | g.149981707A>T | CA361709842 | SLC26A2 | c.2114A>T (p.Glu705Val) c.372+3356A>T (n.372+3356A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981710dup | CA1590738905 | SLC26A2 | c.2117dup (p.Asn706LysfsTer6) c.372+3359dup (n.372+3359dup) | dbSNP |
| 5 | g.149981708A= | CA1590738906 | SLC26A2 | c.2115A= (p.Glu705=) c.372+3357A= (n.372+3357A=) | |
| 5 | g.149981708A>C | CA361709844 | SLC26A2 | c.2115A>C (p.Glu705Asp) c.372+3357A>C (n.372+3357A>C) | |
| 5 | g.149981708A>G | CA447149401 | SLC26A2 | c.2115A>G (p.Glu705=) c.372+3357A>G (n.372+3357A>G) | dbSNP gnomAD v4 |
| 5 | g.149981708A>T | CA361709845 | SLC26A2 | c.2115A>T (p.Glu705Asp) c.372+3357A>T (n.372+3357A>T) | |
| 5 | g.149981709A>C | CA361709846 | SLC26A2 | c.2116A>C (p.Asn706His) c.372+3358A>C (n.372+3358A>C) | |
| 5 | g.149981709A>G | CA361709847 | SLC26A2 | c.2116A>G (p.Asn706Asp) c.372+3358A>G (n.372+3358A>G) | |
| 5 | g.149981709A>T | CA361709848 | SLC26A2 | c.2116A>T (p.Asn706Tyr) c.372+3358A>T (n.372+3358A>T) | |
| 5 | g.149981710A>C | CA361709849 | SLC26A2 | c.2117A>C (p.Asn706Thr) c.372+3359A>C (n.372+3359A>C) | |
| 5 | g.149981710A>G | CA361709850 | SLC26A2 | c.2117A>G (p.Asn706Ser) c.372+3359A>G (n.372+3359A>G) | |
| 5 | g.149981710A>T | CA361709851 | SLC26A2 | c.2117A>T (p.Asn706Ile) c.372+3359A>T (n.372+3359A>T) | |
| 5 | g.149981711C>A | CA361709852 | SLC26A2 | c.2118C>A (p.Asn706Lys) c.372+3360C>A (n.372+3360C>A) | gnomAD v4 |
| 5 | g.149981711C>G | CA361709853 | SLC26A2 | c.2118C>G (p.Asn706Lys) c.372+3360C>G (n.372+3360C>G) | |
| 5 | g.149981711C>T | CA447149413 | SLC26A2 | c.2118C>T (p.Asn706=) c.372+3360C>T (n.372+3360C>T) | |
| 5 | g.149981711_149981714delinsCCTT | CA1590738908 | SLC26A2 | c.2118_2121delinsCCTT (p.Asn706=) c.372+3360_372+3363delinsCCTT (n.372+3360_372+3363delinsCCTT) | |
| 5 | g.149981712_149981715del | CA913108434 | SLC26A2 | c.2119_2122del (p.Leu707SerfsTer27) c.372+3361_372+3364del (n.372+3361_372+3364del) | |
| 5 | g.149981711_149981716delinsCCTTCT | CA1590738907 | SLC26A2 | c.2118_2123delinsCCTTCT (p.Asn706=) c.372+3360_372+3365delinsCCTTCT (n.372+3360_372+3365delinsCCTTCT) | |
| 5 | g.149981712C>A | CA361709854 | SLC26A2 | c.2119C>A (p.Leu707Ile) c.372+3361C>A (n.372+3361C>A) | |
| 5 | g.149981712C= | CA1590738910 | SLC26A2 | c.2119C= (p.Leu707=) c.372+3361C= (n.372+3361C=) | |
| 5 | g.149981712C>G | CA361709856 | SLC26A2 | c.2119C>G (p.Leu707Val) c.372+3361C>G (n.372+3361C>G) | gnomAD v4 |
| 5 | g.149981712C>T | CA361709855 | SLC26A2 | c.2119C>T (p.Leu707Phe) c.372+3361C>T (n.372+3361C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981712_149981713dup | CA2695205563 | SLC26A2 | c.2119_2120dup (p.Leu708PhefsTer28) c.372+3361_372+3362dup (n.372+3361_372+3362dup) | |
| 5 | g.149981712_149981714delinsCTT | CA1590738909 | SLC26A2 | c.2119_2121delinsCTT (p.Leu707=) c.372+3361_372+3363delinsCTT (n.372+3361_372+3363delinsCTT) | |
| 5 | g.149981714_149981716del | CA658823317 | SLC26A2 | c.2121_2123del (p.Leu708del) c.372+3363_372+3365del (n.372+3363_372+3365del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981717_149981721del | CA805532574 | SLC26A2 | c.2124_2128del (p.Phe709Ter) c.372+3366_372+3370del (n.372+3366_372+3370del) | dbSNP |
| 5 | g.149981713T>A | CA361709857 | SLC26A2 | c.2120T>A (p.Leu707His) c.372+3362T>A (n.372+3362T>A) | |
| 5 | g.149981713T>C | CA361709858 | SLC26A2 | c.2120T>C (p.Leu707Pro) c.372+3362T>C (n.372+3362T>C) | |
| 5 | g.149981713T>G | CA361709859 | SLC26A2 | c.2120T>G (p.Leu707Arg) c.372+3362T>G (n.372+3362T>G) | |
| 5 | g.149981713T= | CA1590738911 | SLC26A2 | c.2120T= (p.Leu707=) c.372+3362T= (n.372+3362T=) | |
| 5 | g.149981713_149981714del | CA263258 | SLC26A2 | c.2120_2121del (p.Leu707ProfsTer4) c.372+3362_372+3363del (n.372+3362_372+3363del) | ClinVar dbSNP |
| 5 | g.149981714T>A | CA447149425 | SLC26A2 | c.2121T>A (p.Leu707=) c.372+3363T>A (n.372+3363T>A) | |
| 5 | g.149981714T>C | CA447149427 | SLC26A2 | c.2121T>C (p.Leu707=) c.372+3363T>C (n.372+3363T>C) | |
| 5 | g.149981714T>G | CA447149429 | SLC26A2 | c.2121T>G (p.Leu707=) c.372+3363T>G (n.372+3363T>G) | |
| 5 | g.149981717_149981718dup | CA563955745 | SLC26A2 | c.2124_2125dup (p.Phe709SerfsTer27) c.372+3366_372+3367dup (n.372+3366_372+3367dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981715C>A | CA361709860 | SLC26A2 | c.2122C>A (p.Leu708Ile) c.372+3364C>A (n.372+3364C>A) | |
| 5 | g.149981715C>G | CA361709862 | SLC26A2 | c.2122C>G (p.Leu708Val) c.372+3364C>G (n.372+3364C>G) | |
| 5 | g.149981715C>T | CA361709861 | SLC26A2 | c.2122C>T (p.Leu708Phe) c.372+3364C>T (n.372+3364C>T) | |
| 5 | g.149981716T>A | CA361709863 | SLC26A2 | c.2123T>A (p.Leu708His) c.372+3365T>A (n.372+3365T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981716T>C | CA361709864 | SLC26A2 | c.2123T>C (p.Leu708Pro) c.372+3365T>C (n.372+3365T>C) | dbSNP gnomAD v4 |
| 5 | g.149981716T>G | CA361709865 | SLC26A2 | c.2123T>G (p.Leu708Arg) c.372+3365T>G (n.372+3365T>G) | |
| 5 | g.149981716T= | CA1590738912 | SLC26A2 | c.2123T= (p.Leu708=) c.372+3365T= (n.372+3365T=) | |
| 5 | g.149981717C>A | CA447149438 | SLC26A2 | c.2124C>A (p.Leu708=) c.372+3366C>A (n.372+3366C>A) | |
| 5 | g.149981717C>G | CA447149439 | SLC26A2 | c.2124C>G (p.Leu708=) c.372+3366C>G (n.372+3366C>G) | |
| 5 | g.149981717C>T | CA447149441 | SLC26A2 | c.2124C>T (p.Leu708=) c.372+3366C>T (n.372+3366C>T) | ClinVar gnomAD v4 |
| 5 | g.149981717_149981719delinsCTT | CA1590738913 | SLC26A2 | c.2124_2126delinsCTT (p.Leu708=) c.372+3366_372+3368delinsCTT (n.372+3366_372+3368delinsCTT) | |
| 5 | g.149981718T>A | CA361709866 | SLC26A2 | c.2125T>A (p.Phe709Ile) c.372+3367T>A (n.372+3367T>A) | dbSNP |
| 5 | g.149981718T>C | CA361709867 | SLC26A2 | c.2125T>C (p.Phe709Leu) c.372+3367T>C (n.372+3367T>C) | gnomAD v4 |
| 5 | g.149981718T>G | CA361709868 | SLC26A2 | c.2125T>G (p.Phe709Val) c.372+3367T>G (n.372+3367T>G) | |
| 5 | g.149981718T= | CA1590738914 | SLC26A2 | c.2125T= (p.Phe709=) c.372+3367T= (n.372+3367T=) | |
| 5 | g.149981718_149981719del | CA563955746 | SLC26A2 | c.2125_2126del (p.Phe709LeufsTer2) c.372+3367_372+3368del (n.372+3367_372+3368del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981719T>A | CA361709869 | SLC26A2 | c.2126T>A (p.Phe709Tyr) c.372+3368T>A (n.372+3368T>A) | |
| 5 | g.149981719T>C | CA361709870 | SLC26A2 | c.2126T>C (p.Phe709Ser) c.372+3368T>C (n.372+3368T>C) | |
| 5 | g.149981719T>G | CA361709871 | SLC26A2 | c.2126T>G (p.Phe709Cys) c.372+3368T>G (n.372+3368T>G) | |
| 5 | g.149981720C>A | CA361709872 | SLC26A2 | c.2127C>A (p.Phe709Leu) c.372+3369C>A (n.372+3369C>A) | |
| 5 | g.149981720C= | CA1590738915 | SLC26A2 | c.2127C= (p.Phe709=) c.372+3369C= (n.372+3369C=) | |
| 5 | g.149981720C>G | CA361709873 | SLC26A2 | c.2127C>G (p.Phe709Leu) c.372+3369C>G (n.372+3369C>G) | |
| 5 | g.149981720C>T | CA447149450 | SLC26A2 | c.2127C>T (p.Phe709=) c.372+3369C>T (n.372+3369C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981721T>A | CA361709874 | SLC26A2 | c.2128T>A (p.Tyr710Asn) c.372+3370T>A (n.372+3370T>A) | |
| 5 | g.149981721T>C | CA361709876 | SLC26A2 | c.2128T>C (p.Tyr710His) c.372+3370T>C (n.372+3370T>C) | |
| 5 | g.149981721T>G | CA361709875 | SLC26A2 | c.2128T>G (p.Tyr710Asp) c.372+3370T>G (n.372+3370T>G) | |
| 5 | g.149981722A= | CA1590738916 | SLC26A2 | c.2129A= (p.Tyr710=) c.372+3371A= (n.372+3371A=) | |
| 5 | g.149981722A>C | CA361709877 | SLC26A2 | c.2129A>C (p.Tyr710Ser) c.372+3371A>C (n.372+3371A>C) | |
| 5 | g.149981722A>G | CA3505558 | SLC26A2 | c.2129A>G (p.Tyr710Cys) c.372+3371A>G (n.372+3371A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981722A>T | CA361709878 | SLC26A2 | c.2129A>T (p.Tyr710Phe) c.372+3371A>T (n.372+3371A>T) | |
| 5 | g.149981723T>A | CA361709879 | SLC26A2 | c.2130T>A (p.Tyr710Ter) c.372+3372T>A (n.372+3372T>A) | |
| 5 | g.149981723T>C | CA447149460 | SLC26A2 | c.2130T>C (p.Tyr710=) c.372+3372T>C (n.372+3372T>C) | ClinVar gnomAD v4 |
| 5 | g.149981723T>G | CA361709880 | SLC26A2 | c.2130T>G (p.Tyr710Ter) c.372+3372T>G (n.372+3372T>G) | |
| 5 | g.149981724A>C | CA361709881 | SLC26A2 | c.2131A>C (p.Ser711Arg) c.372+3373A>C (n.372+3373A>C) | |
| 5 | g.149981724A>G | CA361709882 | SLC26A2 | c.2131A>G (p.Ser711Gly) c.372+3373A>G (n.372+3373A>G) | |
| 5 | g.149981724A>T | CA361709883 | SLC26A2 | c.2131A>T (p.Ser711Cys) c.372+3373A>T (n.372+3373A>T) | |
| 5 | g.149981725G>A | CA361709884 | SLC26A2 | c.2132G>A (p.Ser711Asn) c.372+3374G>A (n.372+3374G>A) | |
| 5 | g.149981725G>C | CA361709885 | SLC26A2 | c.2132G>C (p.Ser711Thr) c.372+3374G>C (n.372+3374G>C) | |
| 5 | g.149981725G>T | CA361709886 | SLC26A2 | c.2132G>T (p.Ser711Ile) c.372+3374G>T (n.372+3374G>T) | |
| 5 | g.149981726T>A | CA361709887 | SLC26A2 | c.2133T>A (p.Ser711Arg) c.372+3375T>A (n.372+3375T>A) | |
| 5 | g.149981726T>C | CA447149480 | SLC26A2 | c.2133T>C (p.Ser711=) c.372+3375T>C (n.372+3375T>C) | COSMIC |
| 5 | g.149981726T>G | CA129084901 | SLC26A2 | c.2133T>G (p.Ser711Arg) c.372+3375T>G (n.372+3375T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981726T= | CA1590738917 | SLC26A2 | c.2133T= (p.Ser711=) c.372+3375T= (n.372+3375T=) | |
| 5 | g.149981727G>A | CA361709888 | SLC26A2 | c.2134G>A (p.Val712Met) c.372+3376G>A (n.372+3376G>A) | |
| 5 | g.149981727G>C | CA361709890 | SLC26A2 | c.2134G>C (p.Val712Leu) c.372+3376G>C (n.372+3376G>C) | |
| 5 | g.149981727G>T | CA361709889 | SLC26A2 | c.2134G>T (p.Val712Leu) c.372+3376G>T (n.372+3376G>T) | |
| 5 | g.149981728T>A | CA361709891 | SLC26A2 | c.2135T>A (p.Val712Glu) c.372+3377T>A (n.372+3377T>A) | |
| 5 | g.149981728T>C | CA361709892 | SLC26A2 | c.2135T>C (p.Val712Ala) c.372+3377T>C (n.372+3377T>C) | |
| 5 | g.149981728T>G | CA361709893 | SLC26A2 | c.2135T>G (p.Val712Gly) c.372+3377T>G (n.372+3377T>G) | |
| 5 | g.149981729G>A | CA447149490 | SLC26A2 | c.2136G>A (p.Val712=) c.372+3378G>A (n.372+3378G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981729G>C | CA447149491 | SLC26A2 | c.2136G>C (p.Val712=) c.372+3378G>C (n.372+3378G>C) | gnomAD v4 |
| 5 | g.149981729G= | CA1590738918 | SLC26A2 | c.2136G= (p.Val712=) c.372+3378G= (n.372+3378G=) | |
| 5 | g.149981729G>T | CA447149493 | SLC26A2 | c.2136G>T (p.Val712=) c.372+3378G>T (n.372+3378G>T) | |
| 5 | g.149981730T>A | CA361709894 | SLC26A2 | c.2137T>A (p.Tyr713Asn) c.372+3379T>A (n.372+3379T>A) | |
| 5 | g.149981730T>C | CA361709895 | SLC26A2 | c.2137T>C (p.Tyr713His) c.372+3379T>C (n.372+3379T>C) | |
| 5 | g.149981730T>G | CA361709896 | SLC26A2 | c.2137T>G (p.Tyr713Asp) c.372+3379T>G (n.372+3379T>G) | |
| 5 | g.149981731A>C | CA361709897 | SLC26A2 | c.2138A>C (p.Tyr713Ser) c.372+3380A>C (n.372+3380A>C) | |
| 5 | g.149981731A>G | CA361709898 | SLC26A2 | c.2138A>G (p.Tyr713Cys) c.372+3380A>G (n.372+3380A>G) | |
| 5 | g.149981731A>T | CA361709899 | SLC26A2 | c.2138A>T (p.Tyr713Phe) c.372+3380A>T (n.372+3380A>T) | |
| 5 | g.149981732T>A | CA361709900 | SLC26A2 | c.2139T>A (p.Tyr713Ter) c.372+3381T>A (n.372+3381T>A) | |
| 5 | g.149981732T>C | CA447149504 | SLC26A2 | c.2139T>C (p.Tyr713=) c.372+3381T>C (n.372+3381T>C) | |
| 5 | g.149981732T>G | CA129084905 | SLC26A2 | c.2139T>G (p.Tyr713Ter) c.372+3381T>G (n.372+3381T>G) | dbSNP |
| 5 | g.149981732T= | CA1590738919 | SLC26A2 | c.2139T= (p.Tyr713=) c.372+3381T= (n.372+3381T=) | |
| 5 | g.149981733G>A | CA361709903 | SLC26A2 | c.2140G>A (p.Glu714Lys) c.372+3382G>A (n.372+3382G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981733G>C | CA361709902 | SLC26A2 | c.2140G>C (p.Glu714Gln) c.372+3382G>C (n.372+3382G>C) | |
| 5 | g.149981733G= | CA1590738920 | SLC26A2 | c.2140G= (p.Glu714=) c.372+3382G= (n.372+3382G=) | |
| 5 | g.149981733G>T | CA361709901 | SLC26A2 | c.2140G>T (p.Glu714Ter) c.372+3382G>T (n.372+3382G>T) | |
| 5 | g.149981734A>C | CA361709905 | SLC26A2 | c.2141A>C (p.Glu714Ala) c.372+3383A>C (n.372+3383A>C) | |
| 5 | g.149981734A>G | CA361709904 | SLC26A2 | c.2141A>G (p.Glu714Gly) c.372+3383A>G (n.372+3383A>G) | |
| 5 | g.149981734A>T | CA361709906 | SLC26A2 | c.2141A>T (p.Glu714Val) c.372+3383A>T (n.372+3383A>T) | |
| 5 | g.149981735A>C | CA361709907 | SLC26A2 | c.2142A>C (p.Glu714Asp) c.372+3384A>C (n.372+3384A>C) | |
| 5 | g.149981735A>G | CA447149516 | SLC26A2 | c.2142A>G (p.Glu714=) c.372+3384A>G (n.372+3384A>G) | |
| 5 | g.149981735A>T | CA361709908 | SLC26A2 | c.2142A>T (p.Glu714Asp) c.372+3384A>T (n.372+3384A>T) |