OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977661A>C | CA447401520 | SLC26A2 | n.241A>C c.9A>C (p.Ser3=) | |
| 5 | g.149977661A>G | CA447401521 | SLC26A2 | n.241A>G c.9A>G (p.Ser3=) | |
| 5 | g.149977661A>T | CA447401522 | SLC26A2 | n.241A>T c.9A>T (p.Ser3=) | gnomAD v4 |
| 5 | g.149977662G>A | CA361703768 | SLC26A2 | n.242G>A c.10G>A (p.Glu4Lys) | |
| 5 | g.149977662G>C | CA361703770 | SLC26A2 | n.242G>C c.10G>C (p.Glu4Gln) | |
| 5 | g.149977662G>T | CA361703769 | SLC26A2 | n.242G>T c.10G>T (p.Glu4Ter) | |
| 5 | g.149977662_149977667delinsGAAAGT | CA1590737232 | SLC26A2 | n.242_247delinsGAAAGT c.10_15delinsGAAAGT (p.Glu4=) | |
| 5 | g.149977663A>C | CA361703771 | SLC26A2 | n.243A>C c.11A>C (p.Glu4Ala) | |
| 5 | g.149977663A>G | CA361703773 | SLC26A2 | n.243A>G c.11A>G (p.Glu4Gly) | gnomAD v4 |
| 5 | g.149977663A>T | CA361703772 | SLC26A2 | n.243A>T c.11A>T (p.Glu4Val) | |
| 5 | g.149977667_149977671del | CA563955667 | SLC26A2 | n.247_251del c.15_19del (p.Ser5ArgfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977664A>C | CA361703774 | SLC26A2 | n.244A>C c.12A>C (p.Glu4Asp) | |
| 5 | g.149977664A>G | CA447401526 | SLC26A2 | n.244A>G c.12A>G (p.Glu4=) | ClinVar dbSNP |
| 5 | g.149977664A>T | CA361703775 | SLC26A2 | n.244A>T c.12A>T (p.Glu4Asp) | |
| 5 | g.149977665A>C | CA361703776 | SLC26A2 | n.245A>C c.13A>C (p.Ser5Arg) | |
| 5 | g.149977665A>G | CA361703778 | SLC26A2 | n.245A>G c.13A>G (p.Ser5Gly) | gnomAD v4 |
| 5 | g.149977665A>T | CA361703777 | SLC26A2 | n.245A>T c.13A>T (p.Ser5Cys) | |
| 5 | g.149977666G>A | CA3505185 | SLC26A2 | n.246G>A c.14G>A (p.Ser5Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977666G>C | CA361703779 | SLC26A2 | n.246G>C c.14G>C (p.Ser5Thr) | |
| 5 | g.149977666G= | CA1590737233 | SLC26A2 | n.246G= c.14G= (p.Ser5=) | |
| 5 | g.149977666G>T | CA361703780 | SLC26A2 | n.246G>T c.14G>T (p.Ser5Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977667T>A | CA361703781 | SLC26A2 | n.247T>A c.15T>A (p.Ser5Arg) | |
| 5 | g.149977667T>C | CA3505186 | SLC26A2 | n.247T>C c.15T>C (p.Ser5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977667T>G | CA361703782 | SLC26A2 | n.247T>G c.15T>G (p.Ser5Arg) | |
| 5 | g.149977667T= | CA1590737234 | SLC26A2 | n.247T= c.15T= (p.Ser5=) | |
| 5 | g.149977668A>C | CA361703783 | SLC26A2 | n.248A>C c.16A>C (p.Lys6Gln) | |
| 5 | g.149977668A>G | CA361703784 | SLC26A2 | n.248A>G c.16A>G (p.Lys6Glu) | |
| 5 | g.149977668A>T | CA361703785 | SLC26A2 | n.248A>T c.16A>T (p.Lys6Ter) | |
| 5 | g.149977669A>C | CA361703786 | SLC26A2 | n.249A>C c.17A>C (p.Lys6Thr) | |
| 5 | g.149977669A>G | CA361703787 | SLC26A2 | n.249A>G c.17A>G (p.Lys6Arg) | |
| 5 | g.149977669A>T | CA361703788 | SLC26A2 | n.249A>T c.17A>T (p.Lys6Ile) | |
| 5 | g.149977670A>C | CA361703789 | SLC26A2 | n.250A>C c.18A>C (p.Lys6Asn) | |
| 5 | g.149977670A>G | CA447401531 | SLC26A2 | n.250A>G c.18A>G (p.Lys6=) | |
| 5 | g.149977670A>T | CA361703790 | SLC26A2 | n.250A>T c.18A>T (p.Lys6Asn) | |
| 5 | g.149977671G>A | CA361703791 | SLC26A2 | n.251G>A c.19G>A (p.Glu7Lys) | dbSNP gnomAD v4 |
| 5 | g.149977671G>C | CA361703792 | SLC26A2 | n.251G>C c.19G>C (p.Glu7Gln) | |
| 5 | g.149977671G= | CA1590737235 | SLC26A2 | n.251G= c.19G= (p.Glu7=) | |
| 5 | g.149977671G>T | CA361703793 | SLC26A2 | n.251G>T c.19G>T (p.Glu7Ter) | |
| 5 | g.149977672A= | CA1590737236 | SLC26A2 | n.252A= c.20A= (p.Glu7=) | |
| 5 | g.149977672A>C | CA361703794 | SLC26A2 | n.252A>C c.20A>C (p.Glu7Ala) | |
| 5 | g.149977672A>G | CA361703795 | SLC26A2 | n.252A>G c.20A>G (p.Glu7Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.149977672A>T | CA361703796 | SLC26A2 | n.252A>T c.20A>T (p.Glu7Val) | |
| 5 | g.149977673G>A | CA3505187 | SLC26A2 | n.253G>A c.21G>A (p.Glu7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977673G>C | CA361703797 | SLC26A2 | n.253G>C c.21G>C (p.Glu7Asp) | |
| 5 | g.149977673G= | CA1590737237 | SLC26A2 | n.253G= c.21G= (p.Glu7=) | |
| 5 | g.149977673G>T | CA361703798 | SLC26A2 | n.253G>T c.21G>T (p.Glu7Asp) | |
| 5 | g.149977674C>A | CA361703799 | SLC26A2 | n.254C>A c.22C>A (p.Gln8Lys) | |
| 5 | g.149977674C>G | CA361703800 | SLC26A2 | n.254C>G c.22C>G (p.Gln8Glu) | |
| 5 | g.149977674C>T | CA361703801 | SLC26A2 | n.254C>T c.22C>T (p.Gln8Ter) | |
| 5 | g.149977675A>C | CA361703802 | SLC26A2 | n.255A>C c.23A>C (p.Gln8Pro) | |
| 5 | g.149977675A>G | CA361703804 | SLC26A2 | n.255A>G c.23A>G (p.Gln8Arg) | |
| 5 | g.149977675A>T | CA361703803 | SLC26A2 | n.255A>T c.23A>T (p.Gln8Leu) | |
| 5 | g.149977675_149977683dup | CA2675943459 | SLC26A2 | n.255_263dup c.23_31dup (p.Asn10_Val11insGluHisAsn) | gnomAD v4 |
| 5 | g.149977676A= | CA1590737238 | SLC26A2 | n.256A= c.24A= (p.Gln8=) | |
| 5 | g.149977676A>C | CA361703805 | SLC26A2 | n.256A>C c.24A>C (p.Gln8His) | |
| 5 | g.149977676A>G | CA241280 | SLC26A2 | n.256A>G c.24A>G (p.Gln8=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977676A>T | CA361703806 | SLC26A2 | n.256A>T c.24A>T (p.Gln8His) | |
| 5 | g.149977677C>A | CA361703807 | SLC26A2 | n.257C>A c.25C>A (p.His9Asn) | |
| 5 | g.149977677C= | CA1590737239 | SLC26A2 | n.257C= c.25C= (p.His9=) | |
| 5 | g.149977677C>G | CA3505188 | SLC26A2 | n.257C>G c.25C>G (p.His9Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977677C>T | CA129082160 | SLC26A2 | n.257C>T c.25C>T (p.His9Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977678A= | CA1590737240 | SLC26A2 | n.258A= c.26A= (p.His9=) | |
| 5 | g.149977678A>C | CA361703808 | SLC26A2 | n.258A>C c.26A>C (p.His9Pro) | dbSNP |
| 5 | g.149977678A>G | CA129082168 | SLC26A2 | n.258A>G c.26A>G (p.His9Arg) | dbSNP gnomAD v4 |
| 5 | g.149977678A>T | CA361703809 | SLC26A2 | n.258A>T c.26A>T (p.His9Leu) | |
| 5 | g.149977679T>A | CA361703810 | SLC26A2 | n.259T>A c.27T>A (p.His9Gln) | |
| 5 | g.149977679T>C | CA447401541 | SLC26A2 | n.259T>C c.27T>C (p.His9=) | |
| 5 | g.149977679T>G | CA361703811 | SLC26A2 | n.259T>G c.27T>G (p.His9Gln) | |
| 5 | g.149977680A>C | CA361703814 | SLC26A2 | n.260A>C c.28A>C (p.Asn10His) | |
| 5 | g.149977680A>G | CA361703813 | SLC26A2 | n.260A>G c.28A>G (p.Asn10Asp) | dbSNP gnomAD v4 |
| 5 | g.149977680A>T | CA361703812 | SLC26A2 | n.260A>T c.28A>T (p.Asn10Tyr) | |
| 5 | g.149977681A>C | CA361703815 | SLC26A2 | n.261A>C c.29A>C (p.Asn10Thr) | |
| 5 | g.149977681A>G | CA361703816 | SLC26A2 | n.261A>G c.29A>G (p.Asn10Ser) | |
| 5 | g.149977681A>T | CA361703817 | SLC26A2 | n.261A>T c.29A>T (p.Asn10Ile) | |
| 5 | g.149977682C>A | CA361703818 | SLC26A2 | n.262C>A c.30C>A (p.Asn10Lys) | |
| 5 | g.149977682C= | CA1590737241 | SLC26A2 | n.262C= c.30C= (p.Asn10=) | |
| 5 | g.149977682C>G | CA361703819 | SLC26A2 | n.262C>G c.30C>G (p.Asn10Lys) | |
| 5 | g.149977682C>T | CA3505189 | SLC26A2 | n.262C>T c.30C>T (p.Asn10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977683G>A | CA3505190 | SLC26A2 | n.263G>A c.31G>A (p.Val11Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977683G>C | CA361703820 | SLC26A2 | n.263G>C c.31G>C (p.Val11Leu) | |
| 5 | g.149977683G= | CA1590737242 | SLC26A2 | n.263G= c.31G= (p.Val11=) | |
| 5 | g.149977683G>T | CA3505191 | SLC26A2 | n.263G>T c.31G>T (p.Val11Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977684T>A | CA361703821 | SLC26A2 | n.264T>A c.32T>A (p.Val11Asp) | |
| 5 | g.149977684T>C | CA361703822 | SLC26A2 | n.264T>C c.32T>C (p.Val11Ala) | |
| 5 | g.149977684T>G | CA3505192 | SLC26A2 | n.264T>G c.32T>G (p.Val11Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977684T= | CA1590737243 | SLC26A2 | n.264T= c.32T= (p.Val11=) | |
| 5 | g.149977685T>A | CA447401546 | SLC26A2 | n.265T>A c.33T>A (p.Val11=) | |
| 5 | g.149977685T>C | CA447401548 | SLC26A2 | n.265T>C c.33T>C (p.Val11=) | |
| 5 | g.149977685T>G | CA447401549 | SLC26A2 | n.265T>G c.33T>G (p.Val11=) | |
| 5 | g.149977686T>A | CA361703825 | SLC26A2 | n.266T>A c.34T>A (p.Ser12Thr) | |
| 5 | g.149977686T>C | CA361703824 | SLC26A2 | n.266T>C c.34T>C (p.Ser12Pro) | |
| 5 | g.149977686T>G | CA361703823 | SLC26A2 | n.266T>G c.34T>G (p.Ser12Ala) | gnomAD v4 |
| 5 | g.149977687C>A | CA361703826 | SLC26A2 | n.267C>A c.35C>A (p.Ser12Ter) | |
| 5 | g.149977687C>G | CA361703827 | SLC26A2 | n.267C>G c.35C>G (p.Ser12Ter) | |
| 5 | g.149977687C>T | CA361703828 | SLC26A2 | n.267C>T c.35C>T (p.Ser12Leu) | |
| 5 | g.149977688A= | CA1590737244 | SLC26A2 | n.268A= c.36A= (p.Ser12=) | |
| 5 | g.149977688A>C | CA447401551 | SLC26A2 | n.268A>C c.36A>C (p.Ser12=) | |
| 5 | g.149977688A>G | CA447401552 | SLC26A2 | n.268A>G c.36A>G (p.Ser12=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977688A>T | CA447401553 | SLC26A2 | n.268A>T c.36A>T (p.Ser12=) | |
| 5 | g.149977689C>A | CA361703829 | SLC26A2 | n.269C>A c.37C>A (p.Pro13Thr) | |
| 5 | g.149977689C>G | CA361703830 | SLC26A2 | n.269C>G c.37C>G (p.Pro13Ala) | |
| 5 | g.149977689C>T | CA361703831 | SLC26A2 | n.269C>T c.37C>T (p.Pro13Ser) | gnomAD v4 |
| 5 | g.149977690C>A | CA361703832 | SLC26A2 | n.270C>A c.38C>A (p.Pro13His) | |
| 5 | g.149977690C= | CA1590737245 | SLC26A2 | n.270C= c.38C= (p.Pro13=) | |
| 5 | g.149977690C>G | CA361703833 | SLC26A2 | n.270C>G c.38C>G (p.Pro13Arg) | dbSNP |
| 5 | g.149977690C>T | CA3505193 | SLC26A2 | n.270C>T c.38C>T (p.Pro13Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977691C>A | CA447401557 | SLC26A2 | n.271C>A c.39C>A (p.Pro13=) | |
| 5 | g.149977691C>G | CA447401561 | SLC26A2 | n.271C>G c.39C>G (p.Pro13=) | |
| 5 | g.149977691C>T | CA447401558 | SLC26A2 | n.271C>T c.39C>T (p.Pro13=) | |
| 5 | g.149977692del | CA2675943460 | SLC26A2 | n.272del c.40del (p.Arg14GlufsTer?) | gnomAD v4 |
| 5 | g.149977692A>C | CA447401562 | SLC26A2 | n.272A>C c.40A>C (p.Arg14=) | |
| 5 | g.149977692A>G | CA361703834 | SLC26A2 | n.272A>G c.40A>G (p.Arg14Gly) | gnomAD v4 |
| 5 | g.149977692A>T | CA361703835 | SLC26A2 | n.272A>T c.40A>T (p.Arg14Ter) | |
| 5 | g.149977693G>A | CA361703836 | SLC26A2 | n.273G>A c.41G>A (p.Arg14Lys) | |
| 5 | g.149977693G>C | CA361703837 | SLC26A2 | n.273G>C c.41G>C (p.Arg14Thr) | |
| 5 | g.149977693G>T | CA361703838 | SLC26A2 | n.273G>T c.41G>T (p.Arg14Ile) | |
| 5 | g.149977694A>C | CA361703840 | SLC26A2 | n.274A>C c.42A>C (p.Arg14Ser) | |
| 5 | g.149977694A>G | CA447401565 | SLC26A2 | n.274A>G c.42A>G (p.Arg14=) | |
| 5 | g.149977694A>T | CA361703839 | SLC26A2 | n.274A>T c.42A>T (p.Arg14Ser) | |
| 5 | g.149977695G>A | CA361703841 | SLC26A2 | n.275G>A c.43G>A (p.Asp15Asn) | |
| 5 | g.149977695G>C | CA361703842 | SLC26A2 | n.275G>C c.43G>C (p.Asp15His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977695G= | CA1590737246 | SLC26A2 | n.275G= c.43G= (p.Asp15=) | |
| 5 | g.149977695G>T | CA361703843 | SLC26A2 | n.275G>T c.43G>T (p.Asp15Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977696A>C | CA361703844 | SLC26A2 | n.276A>C c.44A>C (p.Asp15Ala) | |
| 5 | g.149977696A>G | CA361703845 | SLC26A2 | n.276A>G c.44A>G (p.Asp15Gly) | |
| 5 | g.149977696A>T | CA361703846 | SLC26A2 | n.276A>T c.44A>T (p.Asp15Val) | gnomAD v4 |
| 5 | g.149977697C>A | CA361703848 | SLC26A2 | n.277C>A c.45C>A (p.Asp15Glu) | |
| 5 | g.149977697C>G | CA361703847 | SLC26A2 | n.277C>G c.45C>G (p.Asp15Glu) | |
| 5 | g.149977697C>T | CA447401569 | SLC26A2 | n.277C>T c.45C>T (p.Asp15=) | |
| 5 | g.149977698T>A | CA361703849 | SLC26A2 | n.278T>A c.46T>A (p.Ser16Thr) | |
| 5 | g.149977698T>C | CA361703850 | SLC26A2 | n.278T>C c.46T>C (p.Ser16Pro) | |
| 5 | g.149977698T>G | CA361703851 | SLC26A2 | n.278T>G c.46T>G (p.Ser16Ala) | gnomAD v4 |
| 5 | g.149977699C>A | CA361703852 | SLC26A2 | n.279C>A c.47C>A (p.Ser16Ter) | |
| 5 | g.149977699C= | CA1590737247 | SLC26A2 | n.279C= c.47C= (p.Ser16=) | |
| 5 | g.149977699C>G | CA263266 | SLC26A2 | n.279C>G c.47C>G (p.Ser16Ter) | ClinVar dbSNP |
| 5 | g.149977699C>T | CA361703853 | SLC26A2 | n.279C>T c.47C>T (p.Ser16Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977700A>C | CA447401575 | SLC26A2 | n.280A>C c.48A>C (p.Ser16=) | |
| 5 | g.149977700A>G | CA447401574 | SLC26A2 | n.280A>G c.48A>G (p.Ser16=) | |
| 5 | g.149977700A>T | CA447401573 | SLC26A2 | n.280A>T c.48A>T (p.Ser16=) | |
| 5 | g.149977701G>A | CA361703854 | SLC26A2 | n.281G>A c.49G>A (p.Ala17Thr) | |
| 5 | g.149977701G>C | CA361703856 | SLC26A2 | n.281G>C c.49G>C (p.Ala17Pro) | |
| 5 | g.149977701G>T | CA361703855 | SLC26A2 | n.281G>T c.49G>T (p.Ala17Ser) | |
| 5 | g.149977702C>A | CA361703857 | SLC26A2 | n.282C>A c.50C>A (p.Ala17Asp) | |
| 5 | g.149977702C>G | CA361703858 | SLC26A2 | n.282C>G c.50C>G (p.Ala17Gly) | |
| 5 | g.149977702C>T | CA361703859 | SLC26A2 | n.282C>T c.50C>T (p.Ala17Val) | |
| 5 | g.149977703T>A | CA447401581 | SLC26A2 | n.283T>A c.51T>A (p.Ala17=) | |
| 5 | g.149977703T>C | CA129082180 | SLC26A2 | n.283T>C c.51T>C (p.Ala17=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977703T>G | CA447401582 | SLC26A2 | n.283T>G c.51T>G (p.Ala17=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977703T= | CA1590737248 | SLC26A2 | n.283T= c.51T= (p.Ala17=) | |
| 5 | g.149977704G>A | CA361703860 | SLC26A2 | n.284G>A c.52G>A (p.Glu18Lys) | |
| 5 | g.149977704G>C | CA361703861 | SLC26A2 | n.284G>C c.52G>C (p.Glu18Gln) | |
| 5 | g.149977704G>T | CA361703862 | SLC26A2 | n.284G>T c.52G>T (p.Glu18Ter) | |
| 5 | g.149977705A>C | CA361703863 | SLC26A2 | n.285A>C c.53A>C (p.Glu18Ala) | |
| 5 | g.149977705A>G | CA361703864 | SLC26A2 | n.285A>G c.53A>G (p.Glu18Gly) | |
| 5 | g.149977705A>T | CA361703865 | SLC26A2 | n.285A>T c.53A>T (p.Glu18Val) | |
| 5 | g.149977706A>C | CA361703866 | SLC26A2 | n.286A>C c.54A>C (p.Glu18Asp) | |
| 5 | g.149977706A>G | CA447401584 | SLC26A2 | n.286A>G c.54A>G (p.Glu18=) | |
| 5 | g.149977706A>T | CA361703867 | SLC26A2 | n.286A>T c.54A>T (p.Glu18Asp) | |
| 5 | g.149977707G>A | CA361703869 | SLC26A2 | n.287G>A c.55G>A (p.Gly19Arg) | |
| 5 | g.149977707G>C | CA361703868 | SLC26A2 | n.287G>C c.55G>C (p.Gly19Arg) | |
| 5 | g.149977707G= | CA1590737249 | SLC26A2 | n.287G= c.55G= (p.Gly19=) | |
| 5 | g.149977707G>T | CA263272 | SLC26A2 | n.287G>T c.55G>T (p.Gly19Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977708G>A | CA361703870 | SLC26A2 | n.288G>A c.56G>A (p.Gly19Glu) | |
| 5 | g.149977708G>C | CA361703871 | SLC26A2 | n.288G>C c.56G>C (p.Gly19Ala) | |
| 5 | g.149977708G>T | CA361703872 | SLC26A2 | n.288G>T c.56G>T (p.Gly19Val) | |
| 5 | g.149977710_149977714dup | CA2573139270 | SLC26A2 | n.290_294dup c.58_62dup (p.Asp21GlufsTer?) | ClinVar dbSNP |
| 5 | g.149977709A>C | CA447401586 | SLC26A2 | n.289A>C c.57A>C (p.Gly19=) | |
| 5 | g.149977709A>G | CA447401587 | SLC26A2 | n.289A>G c.57A>G (p.Gly19=) | ClinVar dbSNP |
| 5 | g.149977709A>T | CA447401588 | SLC26A2 | n.289A>T c.57A>T (p.Gly19=) | |
| 5 | g.149977710A>C | CA361703873 | SLC26A2 | n.290A>C c.58A>C (p.Asn20His) | |
| 5 | g.149977710A>G | CA361703874 | SLC26A2 | n.290A>G c.58A>G (p.Asn20Asp) | |
| 5 | g.149977710A>T | CA361703875 | SLC26A2 | n.290A>T c.58A>T (p.Asn20Tyr) | |
| 5 | g.149977711A>C | CA361703876 | SLC26A2 | n.291A>C c.59A>C (p.Asn20Thr) | |
| 5 | g.149977711A>G | CA361703877 | SLC26A2 | n.291A>G c.59A>G (p.Asn20Ser) | gnomAD v4 |
| 5 | g.149977711A>T | CA361703878 | SLC26A2 | n.291A>T c.59A>T (p.Asn20Ile) | gnomAD v4 |
| 5 | g.149977712T>A | CA361703879 | SLC26A2 | n.292T>A c.60T>A (p.Asn20Lys) | |
| 5 | g.149977712T>C | CA447401594 | SLC26A2 | n.292T>C c.60T>C (p.Asn20=) | |
| 5 | g.149977712T>G | CA361703880 | SLC26A2 | n.292T>G c.60T>G (p.Asn20Lys) | |
| 5 | g.149977713G>A | CA361703883 | SLC26A2 | n.293G>A c.61G>A (p.Asp21Asn) | |
| 5 | g.149977713G>C | CA361703882 | SLC26A2 | n.293G>C c.61G>C (p.Asp21His) | |
| 5 | g.149977713G>T | CA361703881 | SLC26A2 | n.293G>T c.61G>T (p.Asp21Tyr) | |
| 5 | g.149977713_149977715del | CA913108438 | SLC26A2 | n.293_295del c.61_63del (p.Asp21del) | |
| 5 | g.149977713_149977715delinsGAC | CA1590737250 | SLC26A2 | n.293_295delinsGAC c.61_63delinsGAC (p.Asp21=) | |
| 5 | g.149977714A>C | CA361703884 | SLC26A2 | n.294A>C c.62A>C (p.Asp21Ala) | |
| 5 | g.149977714A>G | CA361703886 | SLC26A2 | n.294A>G c.62A>G (p.Asp21Gly) | dbSNP |
| 5 | g.149977714A>T | CA361703885 | SLC26A2 | n.294A>T c.62A>T (p.Asp21Val) | |
| 5 | g.149977715_149977716del | CA658822209 | SLC26A2 | n.295_296del c.63_64del (p.Asp21GlufsTer17) c.63_64del (p.Asp21GlufsTer?) | ClinVar dbSNP |
| 5 | g.149977715C>A | CA361703887 | SLC26A2 | n.295C>A c.63C>A (p.Asp21Glu) | |
| 5 | g.149977715C= | CA1590737251 | SLC26A2 | n.295C= c.63C= (p.Asp21=) | |
| 5 | g.149977715C>G | CA361703888 | SLC26A2 | n.295C>G c.63C>G (p.Asp21Glu) | |
| 5 | g.149977715C>T | CA447401600 | SLC26A2 | n.295C>T c.63C>T (p.Asp21=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977716A= | CA1590737252 | SLC26A2 | n.296A= c.64A= (p.Ser22=) | |
| 5 | g.149977716A>C | CA361703889 | SLC26A2 | n.296A>C c.64A>C (p.Ser22Arg) | |
| 5 | g.149977716A>G | CA361703890 | SLC26A2 | n.296A>G c.64A>G (p.Ser22Gly) | dbSNP gnomAD v4 |
| 5 | g.149977716A>T | CA361703891 | SLC26A2 | n.296A>T c.64A>T (p.Ser22Cys) | |
| 5 | g.149977717G>A | CA361703892 | SLC26A2 | n.297G>A c.65G>A (p.Ser22Asn) | dbSNP |
| 5 | g.149977717G>C | CA361703893 | SLC26A2 | n.297G>C c.65G>C (p.Ser22Thr) | |
| 5 | g.149977717G= | CA1590737253 | SLC26A2 | n.297G= c.65G= (p.Ser22=) | |
| 5 | g.149977717G>T | CA129082201 | SLC26A2 | n.297G>T c.65G>T (p.Ser22Ile) | dbSNP gnomAD v4 |
| 5 | g.149977718T>A | CA361703894 | SLC26A2 | n.298T>A c.66T>A (p.Ser22Arg) | |
| 5 | g.149977718T>C | CA447401604 | SLC26A2 | n.298T>C c.66T>C (p.Ser22=) | |
| 5 | g.149977718T>G | CA361703895 | SLC26A2 | n.298T>G c.66T>G (p.Ser22Arg) | |
| 5 | g.149977719T>A | CA361703896 | SLC26A2 | n.299T>A c.67T>A (p.Tyr23Asn) | |
| 5 | g.149977719T>C | CA3505194 | SLC26A2 | n.299T>C c.67T>C (p.Tyr23His) | dbSNP ExAC gnomAD v2 |
| 5 | g.149977719T>G | CA361703897 | SLC26A2 | n.299T>G c.67T>G (p.Tyr23Asp) | |
| 5 | g.149977719T= | CA1590737254 | SLC26A2 | n.299T= c.67T= (p.Tyr23=) | |
| 5 | g.149977720A>C | CA361703900 | SLC26A2 | n.300A>C c.68A>C (p.Tyr23Ser) | |
| 5 | g.149977720A>G | CA361703899 | SLC26A2 | n.300A>G c.68A>G (p.Tyr23Cys) | |
| 5 | g.149977720A>T | CA361703898 | SLC26A2 | n.300A>T c.68A>T (p.Tyr23Phe) | |
| 5 | g.149977730_149977740dup | CA2573139271 | SLC26A2 | n.310_320dup c.78_88dup (p.Glu30GlyfsTer?) | ClinVar dbSNP |
| 5 | g.149977721del | CA2580073853 | SLC26A2 | n.301del c.69del (p.Pro24HisfsTer?) c.69del (p.Tyr23=) | ClinVar |
| 5 | g.149977721T>A | CA361703901 | SLC26A2 | n.301T>A c.69T>A (p.Tyr23Ter) | |
| 5 | g.149977721T>C | CA447401606 | SLC26A2 | n.301T>C c.69T>C (p.Tyr23=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977721T>G | CA361703902 | SLC26A2 | n.301T>G c.69T>G (p.Tyr23Ter) | |
| 5 | g.149977721T= | CA1590737255 | SLC26A2 | n.301T= c.69T= (p.Tyr23=) | |
| 5 | g.149977722C>A | CA361703903 | SLC26A2 | n.302C>A c.70C>A (p.Pro24Thr) c.70C>A | |
| 5 | g.149977722C>G | CA361703904 | SLC26A2 | n.302C>G c.70C>G (p.Pro24Ala) c.70C>G | |
| 5 | g.149977722C>T | CA361703905 | SLC26A2 | n.302C>T c.70C>T (p.Pro24Ser) c.70C>T | |
| 5 | g.149977723C>A | CA361703906 | SLC26A2 | n.303C>A c.71C>A (p.Pro24Gln) | |
| 5 | g.149977723C= | CA1590737256 | SLC26A2 | n.303C= c.71C= (p.Pro24=) | |
| 5 | g.149977723C>G | CA361703907 | SLC26A2 | n.303C>G c.71C>G (p.Pro24Arg) | gnomAD v4 |
| 5 | g.149977723C>T | CA361703908 | SLC26A2 | n.303C>T c.71C>T (p.Pro24Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977724A= | CA1590737257 | SLC26A2 | n.304A= c.72A= (p.Pro24=) | |
| 5 | g.149977724A>C | CA447401610 | SLC26A2 | n.304A>C c.72A>C (p.Pro24=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.149977724A>G | CA3505195 | SLC26A2 | n.304A>G c.72A>G (p.Pro24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977724A>T | CA447401613 | SLC26A2 | n.304A>T c.72A>T (p.Pro24=) | |
| 5 | g.149977725T>A | CA361703909 | SLC26A2 | n.305T>A c.73T>A (p.Ser25Thr) | |
| 5 | g.149977725T>C | CA361703910 | SLC26A2 | n.305T>C c.73T>C (p.Ser25Pro) | |
| 5 | g.149977725T>G | CA361703911 | SLC26A2 | n.305T>G c.73T>G (p.Ser25Ala) | |
| 5 | g.149977726C>A | CA361703913 | SLC26A2 | n.306C>A c.74C>A (p.Ser25Tyr) | |
| 5 | g.149977726C= | CA1590737258 | SLC26A2 | n.306C= c.74C= (p.Ser25=) | |
| 5 | g.149977726C>G | CA129082207 | SLC26A2 | n.306C>G c.74C>G (p.Ser25Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977726C>T | CA361703912 | SLC26A2 | n.306C>T c.74C>T (p.Ser25Phe) | gnomAD v4 |
| 5 | g.149977727T>A | CA447401615 | SLC26A2 | n.307T>A c.75T>A (p.Ser25=) | ClinVar |
| 5 | g.149977727T>C | CA447401616 | SLC26A2 | n.307T>C c.75T>C (p.Ser25=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977727T>G | CA447401617 | SLC26A2 | n.307T>G c.75T>G (p.Ser25=) | |
| 5 | g.149977727T= | CA1590737259 | SLC26A2 | n.307T= c.75T= (p.Ser25=) | |
| 5 | g.149977728G>A | CA361703914 | SLC26A2 | n.308G>A c.76G>A (p.Gly26Arg) | gnomAD v4 |
| 5 | g.149977728G>C | CA361703915 | SLC26A2 | n.308G>C c.76G>C (p.Gly26Arg) | |
| 5 | g.149977728G>T | CA361703916 | SLC26A2 | n.308G>T c.76G>T (p.Gly26Trp) | |
| 5 | g.149977729G>A | CA361703917 | SLC26A2 | n.309G>A c.77G>A (p.Gly26Glu) | |
| 5 | g.149977729G>C | CA361703918 | SLC26A2 | n.309G>C c.77G>C (p.Gly26Ala) | |
| 5 | g.149977729G>T | CA361703919 | SLC26A2 | n.309G>T c.77G>T (p.Gly26Val) | gnomAD v4 |
| 5 | g.149977730G>A | CA3505196 | SLC26A2 | n.310G>A c.78G>A (p.Gly26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977730G>C | CA447401619 | SLC26A2 | n.310G>C c.78G>C (p.Gly26=) | |
| 5 | g.149977730G= | CA1590737260 | SLC26A2 | n.310G= c.78G= (p.Gly26=) | |
| 5 | g.149977730G>T | CA447401620 | SLC26A2 | n.310G>T c.78G>T (p.Gly26=) | ClinVar |
| 5 | g.149977731A= | CA1590737261 | SLC26A2 | n.311A= c.79A= (p.Ile27=) | |
| 5 | g.149977731A>C | CA361703920 | SLC26A2 | n.311A>C c.79A>C (p.Ile27Leu) | |
| 5 | g.149977731A>G | CA3505197 | SLC26A2 | n.311A>G c.79A>G (p.Ile27Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977731A>T | CA361703921 | SLC26A2 | n.311A>T c.79A>T (p.Ile27Phe) | |
| 5 | g.149977732T>A | CA361703922 | SLC26A2 | n.312T>A c.80T>A (p.Ile27Asn) | |
| 5 | g.149977732T>C | CA361703923 | SLC26A2 | n.312T>C c.80T>C (p.Ile27Thr) | |
| 5 | g.149977732T>G | CA361703924 | SLC26A2 | n.312T>G c.80T>G (p.Ile27Ser) | |
| 5 | g.149977733C>A | CA447401622 | SLC26A2 | n.313C>A c.81C>A (p.Ile27=) | |
| 5 | g.149977733C= | CA1590737262 | SLC26A2 | n.313C= c.81C= (p.Ile27=) | |
| 5 | g.149977733C>G | CA216028 | SLC26A2 | n.313C>G c.81C>G (p.Ile27Met) | ClinVar dbSNP |
| 5 | g.149977733C>T | CA447401623 | SLC26A2 | n.313C>T c.81C>T (p.Ile27=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977734C>A | CA361703925 | SLC26A2 | n.314C>A c.82C>A (p.His28Asn) | |
| 5 | g.149977734C>G | CA361703927 | SLC26A2 | n.314C>G c.82C>G (p.His28Asp) | |
| 5 | g.149977734C>T | CA361703926 | SLC26A2 | n.314C>T c.82C>T (p.His28Tyr) | COSMIC |
| 5 | g.149977735A>C | CA361703928 | SLC26A2 | n.315A>C c.83A>C (p.His28Pro) | |
| 5 | g.149977735A>G | CA361703929 | SLC26A2 | n.315A>G c.83A>G (p.His28Arg) | ClinVar |
| 5 | g.149977735A>T | CA361703930 | SLC26A2 | n.315A>T c.83A>T (p.His28Leu) | |
| 5 | g.149977736T>A | CA361703931 | SLC26A2 | n.316T>A c.84T>A (p.His28Gln) | |
| 5 | g.149977736T>C | CA447401625 | SLC26A2 | n.316T>C c.84T>C (p.His28=) | dbSNP |
| 5 | g.149977736T>G | CA361703932 | SLC26A2 | n.316T>G c.84T>G (p.His28Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977736T= | CA1590737263 | SLC26A2 | n.316T= c.84T= (p.His28=) | |
| 5 | g.149977737C>A | CA361703933 | SLC26A2 | n.317C>A c.85C>A (p.Leu29Met) | |
| 5 | g.149977737C= | CA1590737264 | SLC26A2 | n.317C= c.85C= (p.Leu29=) | |
| 5 | g.149977737C>G | CA361703934 | SLC26A2 | n.317C>G c.85C>G (p.Leu29Val) | |
| 5 | g.149977737C>T | CA447401627 | SLC26A2 | n.317C>T c.85C>T (p.Leu29=) | dbSNP gnomAD v2 |
| 5 | g.149977738T>A | CA361703935 | SLC26A2 | n.318T>A c.86T>A (p.Leu29Gln) | |
| 5 | g.149977738T>C | CA361703936 | SLC26A2 | n.318T>C c.86T>C (p.Leu29Pro) | |
| 5 | g.149977738T>G | CA361703937 | SLC26A2 | n.318T>G c.86T>G (p.Leu29Arg) | |
| 5 | g.149977739G>A | CA447401628 | SLC26A2 | n.319G>A c.87G>A (p.Leu29=) | |
| 5 | g.149977739G>C | CA447401629 | SLC26A2 | n.319G>C c.87G>C (p.Leu29=) | |
| 5 | g.149977739G>T | CA447401630 | SLC26A2 | n.319G>T c.87G>T (p.Leu29=) | |
| 5 | g.149977740G>A | CA361703940 | SLC26A2 | n.320G>A c.88G>A (p.Glu30Lys) | dbSNP gnomAD v2 |
| 5 | g.149977740G>C | CA361703939 | SLC26A2 | n.320G>C c.88G>C (p.Glu30Gln) | |
| 5 | g.149977740G= | CA1590737265 | SLC26A2 | n.320G= c.88G= (p.Glu30=) | |
| 5 | g.149977740G>T | CA361703938 | SLC26A2 | n.320G>T c.88G>T (p.Glu30Ter) | |
| 5 | g.149977741A>C | CA361703941 | SLC26A2 | n.321A>C c.89A>C (p.Glu30Ala) | |
| 5 | g.149977741A>G | CA361703942 | SLC26A2 | n.321A>G c.89A>G (p.Glu30Gly) | gnomAD v4 |
| 5 | g.149977741A>T | CA361703943 | SLC26A2 | n.321A>T c.89A>T (p.Glu30Val) | |
| 5 | g.149977742A>C | CA361703944 | SLC26A2 | n.322A>C c.90A>C (p.Glu30Asp) | |
| 5 | g.149977742A>G | CA447401633 | SLC26A2 | n.322A>G c.90A>G (p.Glu30=) | ClinVar gnomAD v4 |
| 5 | g.149977742A>T | CA361703945 | SLC26A2 | n.322A>T c.90A>T (p.Glu30Asp) | |
| 5 | g.149977743C>A | CA361703948 | SLC26A2 | n.323C>A c.91C>A (p.Leu31Ile) | |
| 5 | g.149977743C>G | CA361703947 | SLC26A2 | n.323C>G c.91C>G (p.Leu31Val) | |
| 5 | g.149977743C>T | CA361703946 | SLC26A2 | n.323C>T c.91C>T (p.Leu31Phe) | |
| 5 | g.149977744T>A | CA361703949 | SLC26A2 | n.324T>A c.92T>A (p.Leu31His) | |
| 5 | g.149977744T>C | CA361703950 | SLC26A2 | n.324T>C c.92T>C (p.Leu31Pro) | |
| 5 | g.149977744T>G | CA361703951 | SLC26A2 | n.324T>G c.92T>G (p.Leu31Arg) | |
| 5 | g.149977745T>A | CA447401637 | SLC26A2 | n.325T>A c.93T>A (p.Leu31=) | ClinVar |
| 5 | g.149977745T>C | CA447401639 | SLC26A2 | n.325T>C c.93T>C (p.Leu31=) | |
| 5 | g.149977745T>G | CA447401638 | SLC26A2 | n.325T>G c.93T>G (p.Leu31=) | |
| 5 | g.149977746C>A | CA361703952 | SLC26A2 | n.326C>A c.94C>A (p.Gln32Lys) | |
| 5 | g.149977746C>G | CA361703953 | SLC26A2 | n.326C>G c.94C>G (p.Gln32Glu) | |
| 5 | g.149977746C>T | CA361703954 | SLC26A2 | n.326C>T c.94C>T (p.Gln32Ter) | COSMIC |
| 5 | g.149977747A= | CA1590737266 | SLC26A2 | n.327A= c.95A= (p.Gln32=) | |
| 5 | g.149977747A>C | CA361703956 | SLC26A2 | n.327A>C c.95A>C (p.Gln32Pro) | |
| 5 | g.149977747A>G | CA361703955 | SLC26A2 | n.327A>G c.95A>G (p.Gln32Arg) | |
| 5 | g.149977747A>T | CA129082222 | SLC26A2 | n.327A>T c.95A>T (p.Gln32Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977748A= | CA1590737267 | SLC26A2 | n.328A= c.96A= (p.Gln32=) | |
| 5 | g.149977748A>C | CA361703957 | SLC26A2 | n.328A>C c.96A>C (p.Gln32His) | |
| 5 | g.149977748A>G | CA3505198 | SLC26A2 | n.328A>G c.96A>G (p.Gln32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977748A>T | CA361703958 | SLC26A2 | n.328A>T c.96A>T (p.Gln32His) | |
| 5 | g.149977749A>C | CA447401642 | SLC26A2 | n.329A>C c.97A>C (p.Arg33=) | |
| 5 | g.149977749A>G | CA361703959 | SLC26A2 | n.329A>G c.97A>G (p.Arg33Gly) | |
| 5 | g.149977749A>T | CA361703960 | SLC26A2 | n.329A>T c.97A>T (p.Arg33Trp) | gnomAD v4 |
| 5 | g.149977750G>A | CA361703962 | SLC26A2 | n.330G>A c.98G>A (p.Arg33Lys) | dbSNP |
| 5 | g.149977750G>C | CA361703963 | SLC26A2 | n.330G>C c.98G>C (p.Arg33Thr) | |
| 5 | g.149977750G= | CA1590737268 | SLC26A2 | n.330G= c.98G= (p.Arg33=) | |
| 5 | g.149977750G>T | CA361703966 | SLC26A2 | n.330G>T c.98G>T (p.Arg33Met) | |
| 5 | g.149977752del | CA2573139272 | SLC26A2 | n.332del c.100del (p.Glu34AsnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977751G>A | CA447401643 | SLC26A2 | n.331G>A c.99G>A (p.Arg33=) | |
| 5 | g.149977751G>C | CA361703969 | SLC26A2 | n.331G>C c.99G>C (p.Arg33Ser) | |
| 5 | g.149977751G>T | CA361703971 | SLC26A2 | n.331G>T c.99G>T (p.Arg33Ser) | |
| 5 | g.149977752G>A | CA361703972 | SLC26A2 | n.332G>A c.100G>A (p.Glu34Lys) | |
| 5 | g.149977752G>C | CA361703973 | SLC26A2 | n.332G>C c.100G>C (p.Glu34Gln) | |
| 5 | g.149977752G>T | CA361703974 | SLC26A2 | n.332G>T c.100G>T (p.Glu34Ter) | |
| 5 | g.149977753A>C | CA361703975 | SLC26A2 | n.333A>C c.101A>C (p.Glu34Ala) | |
| 5 | g.149977753A>G | CA361703979 | SLC26A2 | n.333A>G c.101A>G (p.Glu34Gly) | |
| 5 | g.149977753A>T | CA361703977 | SLC26A2 | n.333A>T c.101A>T (p.Glu34Val) | |
| 5 | g.149977754A= | CA1590737269 | SLC26A2 | n.334A= c.102A= (p.Glu34=) | |
| 5 | g.149977754A>C | CA361703980 | SLC26A2 | n.334A>C c.102A>C (p.Glu34Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977754A>G | CA447401645 | SLC26A2 | n.334A>G c.102A>G (p.Glu34=) | |
| 5 | g.149977754A>T | CA361703982 | SLC26A2 | n.334A>T c.102A>T (p.Glu34Asp) | |
| 5 | g.149977755T>A | CA361703984 | SLC26A2 | n.335T>A c.103T>A (p.Ser35Thr) | gnomAD v4 |
| 5 | g.149977755T>C | CA361703986 | SLC26A2 | n.335T>C c.103T>C (p.Ser35Pro) | |
| 5 | g.149977755T>G | CA361703987 | SLC26A2 | n.335T>G c.103T>G (p.Ser35Ala) | |
| 5 | g.149977756C>A | CA361703989 | SLC26A2 | n.336C>A c.104C>A (p.Ser35Ter) | |
| 5 | g.149977756C= | CA1590737270 | SLC26A2 | n.336C= c.104C= (p.Ser35=) | |
| 5 | g.149977756C>G | CA361703990 | SLC26A2 | n.336C>G c.104C>G (p.Ser35Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977756C>T | CA361703992 | SLC26A2 | n.336C>T c.104C>T (p.Ser35Leu) | |
| 5 | g.149977757A= | CA1590737271 | SLC26A2 | n.337A= c.105A= (p.Ser35=) | |
| 5 | g.149977757A>C | CA447401649 | SLC26A2 | n.337A>C c.105A>C (p.Ser35=) | |
| 5 | g.149977757A>G | CA3505199 | SLC26A2 | n.337A>G c.105A>G (p.Ser35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977757A>T | CA447401650 | SLC26A2 | n.337A>T c.105A>T (p.Ser35=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977758A>C | CA361703995 | SLC26A2 | n.338A>C c.106A>C (p.Ser36Arg) | |
| 5 | g.149977758A>G | CA361703997 | SLC26A2 | n.338A>G c.106A>G (p.Ser36Gly) | gnomAD v4 |
| 5 | g.149977758A>T | CA361703998 | SLC26A2 | n.338A>T c.106A>T (p.Ser36Cys) | |
| 5 | g.149977759G>A | CA361704003 | SLC26A2 | n.339G>A c.107G>A (p.Ser36Asn) | dbSNP |
| 5 | g.149977759G>C | CA361704000 | SLC26A2 | n.339G>C c.107G>C (p.Ser36Thr) | |
| 5 | g.149977759G= | CA1590737272 | SLC26A2 | n.339G= c.107G= (p.Ser36=) | |
| 5 | g.149977759G>T | CA361704001 | SLC26A2 | n.339G>T c.107G>T (p.Ser36Ile) | |
| 5 | g.149977760T>A | CA3505200 | SLC26A2 | n.340T>A c.108T>A (p.Ser36Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977760T>C | CA447401653 | SLC26A2 | n.340T>C c.108T>C (p.Ser36=) | |
| 5 | g.149977760T>G | CA361704004 | SLC26A2 | n.340T>G c.108T>G (p.Ser36Arg) | |
| 5 | g.149977760T= | CA1590737273 | SLC26A2 | n.340T= c.108T= (p.Ser36=) | |
| 5 | g.149977761A= | CA1590737274 | SLC26A2 | n.341A= c.109A= (p.Thr37=) | |
| 5 | g.149977761A>C | CA361704006 | SLC26A2 | n.341A>C c.109A>C (p.Thr37Pro) | |
| 5 | g.149977761A>G | CA361704008 | SLC26A2 | n.341A>G c.109A>G (p.Thr37Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977761A>T | CA361704010 | SLC26A2 | n.341A>T c.109A>T (p.Thr37Ser) | gnomAD v4 |