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 |
|---|---|---|---|---|---|
| 7 | g.107683434_107683467del | CA913111806 | SLC26A4 | c.919-21_931del | |
| 7 | g.107683433_107683466delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT | CA1732741820 | SLC26A4 | c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT | |
| 7 | g.107683436_107683468del | CA658821802 | SLC26A4 | c.919-19_932del | ClinVar dbSNP |
| 7 | g.107683448A>C | CA2580076164 | SLC26A4 | c.919-7A>C (n.919-7A>C) | ClinVar |
| 7 | g.107683449T>C | CA1732741842 | SLC26A4 | c.919-6T>C (n.919-6T>C) | dbSNP |
| 7 | g.107683449T= | CA1732741840 | SLC26A4 | c.919-6T= (n.919-6T=) | |
| 7 | g.107683452C= | CA1732741844 | SLC26A4 | c.919-3C= (n.919-3C=) | |
| 7 | g.107683452C>T | CA577198877 | SLC26A4 | c.919-3C>T (n.919-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683453A= | CA1732741850 | SLC26A4 | c.919-2A= (n.919-2A=) | |
| 7 | g.107683453A>C | CA368835558 | SLC26A4 | c.919-2A>C (n.919-2A>C) | ClinVar |
| 7 | g.107683453A>G | CA261445 | SLC26A4 | c.919-2A>G (n.919-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683453A>T | CA368835561 | SLC26A4 | c.919-2A>T (n.919-2A>T) | |
| 7 | g.107683454G>A | CA368835564 | SLC26A4 | c.919-1G>A (n.919-1G>A) | |
| 7 | g.107683454G>C | CA368835566 | SLC26A4 | c.919-1G>C (n.919-1G>C) | |
| 7 | g.107683454G>T | CA368835568 | SLC26A4 | c.919-1G>T (n.919-1G>T) | |
| 7 | g.107683455A= | CA1732741858 | SLC26A4 | c.919A= (p.Thr307=) | |
| 7 | g.107683455A>C | CA368835573 | SLC26A4 | c.919A>C (p.Thr307Pro) | gnomAD v4 |
| 7 | g.107683455A>G | CA368835575 | SLC26A4 | c.919A>G (p.Thr307Ala) | ClinVar dbSNP |
| 7 | g.107683455A>T | CA368835571 | SLC26A4 | c.919A>T (p.Thr307Ser) | |
| 7 | g.107683455_107683472delinsCCCCA | CA2695208351 | SLC26A4 | c.919_936delinsCCCCA (p.Thr307ProfsTer?) | |
| 7 | g.107683456C>A | CA368835581 | SLC26A4 | c.920C>A (p.Thr307Lys) | |
| 7 | g.107683456C= | CA1732741868 | SLC26A4 | c.920C= (p.Thr307=) | |
| 7 | g.107683456C>G | CA368835578 | SLC26A4 | c.920C>G (p.Thr307Arg) | |
| 7 | g.107683456C>T | CA4432628 | SLC26A4 | c.920C>T (p.Thr307Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683457G>A | CA4432629 | SLC26A4 | c.921G>A (p.Thr307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107683457G>C | CA457205280 | SLC26A4 | c.921G>C (p.Thr307=) | COSMIC |
| 7 | g.107683457G= | CA1732741870 | SLC26A4 | c.921G= (p.Thr307=) | |
| 7 | g.107683457G>T | CA457205281 | SLC26A4 | c.921G>T (p.Thr307=) | dbSNP gnomAD v4 |
| 7 | g.107683458A>C | CA368835584 | SLC26A4 | c.922A>C (p.Ile308Leu) | |
| 7 | g.107683458A>G | CA368835587 | SLC26A4 | c.922A>G (p.Ile308Val) | gnomAD v4 |
| 7 | g.107683458A>T | CA368835589 | SLC26A4 | c.922A>T (p.Ile308Leu) | |
| 7 | g.107683459T>A | CA368835592 | SLC26A4 | c.923T>A (p.Ile308Lys) | |
| 7 | g.107683459T>C | CA368835595 | SLC26A4 | c.923T>C (p.Ile308Thr) | |
| 7 | g.107683459T>G | CA368835598 | SLC26A4 | c.923T>G (p.Ile308Arg) | |
| 7 | g.107683461_107683467del | CA2695208352 | SLC26A4 | c.925_931del (p.Ile309LeufsTer?) | |
| 7 | g.107683460A>C | CA457205287 | SLC26A4 | c.924A>C (p.Ile308=) | |
| 7 | g.107683460A>G | CA368835601 | SLC26A4 | c.924A>G (p.Ile308Met) | |
| 7 | g.107683460A>T | CA457205288 | SLC26A4 | c.924A>T (p.Ile308=) | |
| 7 | g.107683461A>C | CA368835612 | SLC26A4 | c.925A>C (p.Ile309Leu) | |
| 7 | g.107683461A>G | CA368835613 | SLC26A4 | c.925A>G (p.Ile309Val) | |
| 7 | g.107683461A>T | CA368835615 | SLC26A4 | c.925A>T (p.Ile309Phe) | gnomAD v4 |
| 7 | g.107683462T>A | CA368835616 | SLC26A4 | c.926T>A (p.Ile309Asn) | |
| 7 | g.107683462T>C | CA164205691 | SLC26A4 | c.926T>C (p.Ile309Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683462T>G | CA368835618 | SLC26A4 | c.926T>G (p.Ile309Ser) | |
| 7 | g.107683462T= | CA1732741873 | SLC26A4 | c.926T= (p.Ile309=) | |
| 7 | g.107683463T>A | CA457205291 | SLC26A4 | c.927T>A (p.Ile309=) | |
| 7 | g.107683463T>C | CA457205293 | SLC26A4 | c.927T>C (p.Ile309=) | |
| 7 | g.107683463T>G | CA368835622 | SLC26A4 | c.927T>G (p.Ile309Met) | |
| 7 | g.107683464G>A | CA368835626 | SLC26A4 | c.928G>A (p.Ala310Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683464G>C | CA368835629 | SLC26A4 | c.928G>C (p.Ala310Pro) | gnomAD v4 |
| 7 | g.107683464G= | CA1732741876 | SLC26A4 | c.928G= (p.Ala310=) | |
| 7 | g.107683464G>T | CA4432630 | SLC26A4 | c.928G>T (p.Ala310Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683464_107683465delinsGC | CA1732741877 | SLC26A4 | c.928_929delinsGC (p.Ala310=) | |
| 7 | g.107683465del | CA577198878 | SLC26A4 | c.929del (p.Ala310ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683465C>A | CA368835635 | SLC26A4 | c.929C>A (p.Ala310Asp) | |
| 7 | g.107683465C= | CA1732741886 | SLC26A4 | c.929C= (p.Ala310=) | |
| 7 | g.107683465C>G | CA368835638 | SLC26A4 | c.929C>G (p.Ala310Gly) | gnomAD v4 |
| 7 | g.107683465C>T | CA4432631 | SLC26A4 | c.929C>T (p.Ala310Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683466T>A | CA457205301 | SLC26A4 | c.930T>A (p.Ala310=) | |
| 7 | g.107683466T>C | CA457205303 | SLC26A4 | c.930T>C (p.Ala310=) | |
| 7 | g.107683466T>G | CA457205305 | SLC26A4 | c.930T>G (p.Ala310=) | |
| 7 | g.107683467A>C | CA368835643 | SLC26A4 | c.931A>C (p.Thr311Pro) | |
| 7 | g.107683467A>G | CA368835644 | SLC26A4 | c.931A>G (p.Thr311Ala) | |
| 7 | g.107683467A>T | CA368835647 | SLC26A4 | c.931A>T (p.Thr311Ser) | |
| 7 | g.107683468C>A | CA368835654 | SLC26A4 | c.932C>A (p.Thr311Asn) | |
| 7 | g.107683468C>G | CA368835657 | SLC26A4 | c.932C>G (p.Thr311Ser) | |
| 7 | g.107683468C>T | CA368835652 | SLC26A4 | c.932C>T (p.Thr311Ile) | |
| 7 | g.107683469T>A | CA457205308 | SLC26A4 | c.933T>A (p.Thr311=) | dbSNP |
| 7 | g.107683469T>C | CA457205313 | SLC26A4 | c.933T>C (p.Thr311=) | gnomAD v4 |
| 7 | g.107683469T>G | CA457205310 | SLC26A4 | c.933T>G (p.Thr311=) | |
| 7 | g.107683469T= | CA1732741892 | SLC26A4 | c.933T= (p.Thr311=) | |
| 7 | g.107683470G>A | CA368835659 | SLC26A4 | c.934G>A (p.Ala312Thr) | |
| 7 | g.107683470G>C | CA368835661 | SLC26A4 | c.934G>C (p.Ala312Pro) | |
| 7 | g.107683470G>T | CA368835664 | SLC26A4 | c.934G>T (p.Ala312Ser) | |
| 7 | g.107683471C>A | CA368835667 | SLC26A4 | c.935C>A (p.Ala312Asp) | |
| 7 | g.107683471C= | CA1732741895 | SLC26A4 | c.935C= (p.Ala312=) | |
| 7 | g.107683471C>G | CA368835669 | SLC26A4 | c.935C>G (p.Ala312Gly) | |
| 7 | g.107683471C>T | CA368835672 | SLC26A4 | c.935C>T (p.Ala312Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683472C>A | CA457205314 | SLC26A4 | c.936C>A (p.Ala312=) | |
| 7 | g.107683472C>G | CA457205315 | SLC26A4 | c.936C>G (p.Ala312=) | |
| 7 | g.107683472C>T | CA457205317 | SLC26A4 | c.936C>T (p.Ala312=) | |
| 7 | g.107683473A= | CA1732741900 | SLC26A4 | c.937A= (p.Ile313=) | |
| 7 | g.107683473A>C | CA368835676 | SLC26A4 | c.937A>C (p.Ile313Leu) | |
| 7 | g.107683473A>G | CA4432632 | SLC26A4 | c.937A>G (p.Ile313Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683473A>T | CA368835679 | SLC26A4 | c.937A>T (p.Ile313Phe) | |
| 7 | g.107683474T>A | CA368835683 | SLC26A4 | c.938T>A (p.Ile313Asn) | |
| 7 | g.107683474T>C | CA368835684 | SLC26A4 | c.938T>C (p.Ile313Thr) | gnomAD v4 |
| 7 | g.107683474T>G | CA368835686 | SLC26A4 | c.938T>G (p.Ile313Ser) | |
| 7 | g.107683475T>A | CA457205321 | SLC26A4 | c.939T>A (p.Ile313=) | |
| 7 | g.107683475T>C | CA457205322 | SLC26A4 | c.939T>C (p.Ile313=) | |
| 7 | g.107683475T>G | CA368835689 | SLC26A4 | c.939T>G (p.Ile313Met) | |
| 7 | g.107683476T>A | CA368835697 | SLC26A4 | c.940T>A (p.Ser314Thr) | |
| 7 | g.107683476T>C | CA368835694 | SLC26A4 | c.940T>C (p.Ser314Pro) | |
| 7 | g.107683476T>G | CA368835692 | SLC26A4 | c.940T>G (p.Ser314Ala) | |
| 7 | g.107683477C>A | CA368835701 | SLC26A4 | c.941C>A (p.Ser314Ter) | |
| 7 | g.107683477C= | CA1732741903 | SLC26A4 | c.941C= (p.Ser314=) | |
| 7 | g.107683477C>G | CA368835702 | SLC26A4 | c.941C>G (p.Ser314Ter) | ClinVar dbSNP |
| 7 | g.107683477C>T | CA368835705 | SLC26A4 | c.941C>T (p.Ser314Leu) | |
| 7 | g.107683478A>C | CA457205328 | SLC26A4 | c.942A>C (p.Ser314=) | |
| 7 | g.107683478A>G | CA457205330 | SLC26A4 | c.942A>G (p.Ser314=) | ClinVar |
| 7 | g.107683478A>T | CA457205331 | SLC26A4 | c.942A>T (p.Ser314=) | |
| 7 | g.107683479T>A | CA368835709 | SLC26A4 | c.943T>A (p.Tyr315Asn) | |
| 7 | g.107683479T>C | CA368835721 | SLC26A4 | c.943T>C (p.Tyr315His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683479T>G | CA368835722 | SLC26A4 | c.943T>G (p.Tyr315Asp) | |
| 7 | g.107683479T= | CA1732741907 | SLC26A4 | c.943T= (p.Tyr315=) | |
| 7 | g.107683480A= | CA1732741909 | SLC26A4 | c.944A= (p.Tyr315=) | |
| 7 | g.107683480A>C | CA368835723 | SLC26A4 | c.944A>C (p.Tyr315Ser) | gnomAD v4 |
| 7 | g.107683480A>G | CA368835729 | SLC26A4 | c.944A>G (p.Tyr315Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683480A>T | CA368835732 | SLC26A4 | c.944A>T (p.Tyr315Phe) | |
| 7 | g.107683481T>A | CA368835735 | SLC26A4 | c.945T>A (p.Tyr315Ter) | dbSNP |
| 7 | g.107683481T>C | CA457205332 | SLC26A4 | c.945T>C (p.Tyr315=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683481T>G | CA368835739 | SLC26A4 | c.945T>G (p.Tyr315Ter) | |
| 7 | g.107683481T= | CA1732741912 | SLC26A4 | c.945T= (p.Tyr315=) | |
| 7 | g.107683482G>A | CA368835743 | SLC26A4 | c.946G>A (p.Gly316Arg) | dbSNP |
| 7 | g.107683482G>C | CA368835746 | SLC26A4 | c.946G>C (p.Gly316Arg) | |
| 7 | g.107683482G= | CA1732741919 | SLC26A4 | c.946G= (p.Gly316=) | |
| 7 | g.107683482G>T | CA368835748 | SLC26A4 | c.946G>T (p.Gly316Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683483G>A | CA368835756 | SLC26A4 | c.947G>A (p.Gly316Glu) | |
| 7 | g.107683483G>C | CA368835753 | SLC26A4 | c.947G>C (p.Gly316Ala) | |
| 7 | g.107683483G>T | CA368835751 | SLC26A4 | c.947G>T (p.Gly316Val) | |
| 7 | g.107683484A= | CA1732741924 | SLC26A4 | c.948A= (p.Gly316=) | |
| 7 | g.107683484A>C | CA10576712 | SLC26A4 | c.948A>C (p.Gly316=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107683484A>G | CA457205338 | SLC26A4 | c.948A>G (p.Gly316=) | |
| 7 | g.107683484A>T | CA457205339 | SLC26A4 | c.948A>T (p.Gly316=) | |
| 7 | g.107683485G>A | CA368835763 | SLC26A4 | c.949G>A (p.Ala317Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683485G>C | CA368835768 | SLC26A4 | c.949G>C (p.Ala317Pro) | |
| 7 | g.107683485G= | CA1732741931 | SLC26A4 | c.949G= (p.Ala317=) | |
| 7 | g.107683485G>T | CA368835765 | SLC26A4 | c.949G>T (p.Ala317Ser) | |
| 7 | g.107683486C>A | CA4432633 | SLC26A4 | c.950C>A (p.Ala317Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683486C= | CA1732741934 | SLC26A4 | c.950C= (p.Ala317=) | |
| 7 | g.107683486C>G | CA368835776 | SLC26A4 | c.950C>G (p.Ala317Gly) | |
| 7 | g.107683486C>T | CA368835774 | SLC26A4 | c.950C>T (p.Ala317Val) | |
| 7 | g.107683487C>A | CA457205345 | SLC26A4 | c.951C>A (p.Ala317=) | |
| 7 | g.107683487C>G | CA457205346 | SLC26A4 | c.951C>G (p.Ala317=) | |
| 7 | g.107683487C>T | CA457205347 | SLC26A4 | c.951C>T (p.Ala317=) | |
| 7 | g.107683488A>C | CA368835780 | SLC26A4 | c.952A>C (p.Asn318His) | |
| 7 | g.107683488A>G | CA368835784 | SLC26A4 | c.952A>G (p.Asn318Asp) | |
| 7 | g.107683488A>T | CA368835786 | SLC26A4 | c.952A>T (p.Asn318Tyr) | |
| 7 | g.107683489A>C | CA368835792 | SLC26A4 | c.953A>C (p.Asn318Thr) | |
| 7 | g.107683489A>G | CA368835794 | SLC26A4 | c.953A>G (p.Asn318Ser) | |
| 7 | g.107683489A>T | CA368835798 | SLC26A4 | c.953A>T (p.Asn318Ile) | |
| 7 | g.107683490C>A | CA368835804 | SLC26A4 | c.954C>A (p.Asn318Lys) | |
| 7 | g.107683490C= | CA1732741936 | SLC26A4 | c.954C= (p.Asn318=) | |
| 7 | g.107683490C>G | CA368835808 | SLC26A4 | c.954C>G (p.Asn318Lys) | |
| 7 | g.107683490C>T | CA457205353 | SLC26A4 | c.954C>T (p.Asn318=) | dbSNP gnomAD v4 |
| 7 | g.107683491C>A | CA368835809 | SLC26A4 | c.955C>A (p.Leu319Met) | |
| 7 | g.107683491C= | CA1732741940 | SLC26A4 | c.955C= (p.Leu319=) | |
| 7 | g.107683491C>G | CA368835810 | SLC26A4 | c.955C>G (p.Leu319Val) | dbSNP |
| 7 | g.107683491C>T | CA457205354 | SLC26A4 | c.955C>T (p.Leu319=) | |
| 7 | g.107683492T>A | CA368835811 | SLC26A4 | c.956T>A (p.Leu319Gln) | |
| 7 | g.107683492T>C | CA368835812 | SLC26A4 | c.956T>C (p.Leu319Pro) | |
| 7 | g.107683492T>G | CA368835813 | SLC26A4 | c.956T>G (p.Leu319Arg) | |
| 7 | g.107683493G>A | CA457205359 | SLC26A4 | c.957G>A (p.Leu319=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683493G>C | CA457205360 | SLC26A4 | c.957G>C (p.Leu319=) | |
| 7 | g.107683493G= | CA1732741941 | SLC26A4 | c.957G= (p.Leu319=) | |
| 7 | g.107683493G>T | CA457205361 | SLC26A4 | c.957G>T (p.Leu319=) | |
| 7 | g.107683494G>A | CA368835816 | SLC26A4 | c.958G>A (p.Glu320Lys) | COSMIC |
| 7 | g.107683494G>C | CA368835821 | SLC26A4 | c.958G>C (p.Glu320Gln) | |
| 7 | g.107683494G>T | CA368835817 | SLC26A4 | c.958G>T (p.Glu320Ter) | |
| 7 | g.107683494_107683495delinsGA | CA1732741943 | SLC26A4 | c.958_959delinsGA (p.Glu320=) | |
| 7 | g.107683495A>C | CA368835823 | SLC26A4 | c.959A>C (p.Glu320Ala) | |
| 7 | g.107683495A>G | CA368835824 | SLC26A4 | c.959A>G (p.Glu320Gly) | |
| 7 | g.107683495A>T | CA368835825 | SLC26A4 | c.959A>T (p.Glu320Val) | |
| 7 | g.107683501dup | CA1732741947 | SLC26A4 | c.965dup (p.Asn322LysfsTer8) | ClinVar dbSNP |
| 7 | g.107683501del | CA4432634 | SLC26A4 | c.965del (p.Asn322IlefsTer22) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107683496A>C | CA368835826 | SLC26A4 | c.960A>C (p.Glu320Asp) | |
| 7 | g.107683496A>G | CA457205363 | SLC26A4 | c.960A>G (p.Glu320=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683496A>T | CA368835828 | SLC26A4 | c.960A>T (p.Glu320Asp) | |
| 7 | g.107683497A= | CA1732741951 | SLC26A4 | c.961A= (p.Lys321=) | |
| 7 | g.107683497A>C | CA368835831 | SLC26A4 | c.961A>C (p.Lys321Gln) | |
| 7 | g.107683497A>G | CA368835842 | SLC26A4 | c.961A>G (p.Lys321Glu) | |
| 7 | g.107683497A>T | CA368835845 | SLC26A4 | c.961A>T (p.Lys321Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683498A>C | CA368835853 | SLC26A4 | c.962A>C (p.Lys321Thr) | |
| 7 | g.107683498A>G | CA368835849 | SLC26A4 | c.962A>G (p.Lys321Arg) | |
| 7 | g.107683498A>T | CA368835848 | SLC26A4 | c.962A>T (p.Lys321Ile) | |
| 7 | g.107683499A>C | CA368835855 | SLC26A4 | c.963A>C (p.Lys321Asn) | |
| 7 | g.107683499A>G | CA457205365 | SLC26A4 | c.963A>G (p.Lys321=) | |
| 7 | g.107683499A>T | CA368835857 | SLC26A4 | c.963A>T (p.Lys321Asn) | |
| 7 | g.107683500A= | CA1732741955 | SLC26A4 | c.964A= (p.Asn322=) | |
| 7 | g.107683500A>C | CA368835862 | SLC26A4 | c.964A>C (p.Asn322His) | dbSNP |
| 7 | g.107683500A>G | CA132742 | SLC26A4 | c.964A>G (p.Asn322Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683500A>T | CA368835870 | SLC26A4 | c.964A>T (p.Asn322Tyr) | |
| 7 | g.107683501A= | CA1732741963 | SLC26A4 | c.965A= (p.Asn322=) | |
| 7 | g.107683501A>C | CA368835872 | SLC26A4 | c.965A>C (p.Asn322Thr) | |
| 7 | g.107683501A>G | CA4432635 | SLC26A4 | c.965A>G (p.Asn322Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683501A>T | CA368835874 | SLC26A4 | c.965A>T (p.Asn322Ile) | gnomAD v4 |
| 7 | g.107683502T>A | CA368835877 | SLC26A4 | c.966T>A (p.Asn322Lys) | |
| 7 | g.107683502T>C | CA457205370 | SLC26A4 | c.966T>C (p.Asn322=) | |
| 7 | g.107683502T>G | CA368835879 | SLC26A4 | c.966T>G (p.Asn322Lys) | |
| 7 | g.107683502_107683503del | CA2777355556 | SLC26A4 | c.966_967del (p.Asn322LysfsTer7) | |
| 7 | g.107683503T>A | CA368835880 | SLC26A4 | c.967T>A (p.Tyr323Asn) | |
| 7 | g.107683503T>C | CA368835881 | SLC26A4 | c.967T>C (p.Tyr323His) | gnomAD v4 |
| 7 | g.107683503T>G | CA368835897 | SLC26A4 | c.967T>G (p.Tyr323Asp) | |
| 7 | g.107683504A>C | CA368835920 | SLC26A4 | c.968A>C (p.Tyr323Ser) | |
| 7 | g.107683504A>G | CA368835914 | SLC26A4 | c.968A>G (p.Tyr323Cys) | gnomAD v4 |
| 7 | g.107683504A>T | CA368835916 | SLC26A4 | c.968A>T (p.Tyr323Phe) | |
| 7 | g.107683505C>A | CA368835923 | SLC26A4 | c.969C>A (p.Tyr323Ter) | |
| 7 | g.107683505C= | CA1732741967 | SLC26A4 | c.969C= (p.Tyr323=) | |
| 7 | g.107683505C>G | CA368835924 | SLC26A4 | c.969C>G (p.Tyr323Ter) | |
| 7 | g.107683505C>T | CA4432636 | SLC26A4 | c.969C>T (p.Tyr323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107683506A= | CA1732741970 | SLC26A4 | c.970A= (p.Asn324=) | |
| 7 | g.107683506A>C | CA368835925 | SLC26A4 | c.970A>C (p.Asn324His) | |
| 7 | g.107683506A>G | CA368835928 | SLC26A4 | c.970A>G (p.Asn324Asp) | |
| 7 | g.107683506A>T | CA132744 | SLC26A4 | c.970A>T (p.Asn324Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683507A>C | CA368835934 | SLC26A4 | c.971A>C (p.Asn324Thr) | |
| 7 | g.107683507A>G | CA368835935 | SLC26A4 | c.971A>G (p.Asn324Ser) | gnomAD v4 |
| 7 | g.107683507A>T | CA368835945 | SLC26A4 | c.971A>T (p.Asn324Ile) | |
| 7 | g.107683508T>A | CA368835947 | SLC26A4 | c.972T>A (p.Asn324Lys) | |
| 7 | g.107683508T>C | CA457205374 | SLC26A4 | c.972T>C (p.Asn324=) | |
| 7 | g.107683508T>G | CA368835950 | SLC26A4 | c.972T>G (p.Asn324Lys) | |
| 7 | g.107683509G>A | CA368835959 | SLC26A4 | c.973G>A (p.Ala325Thr) | COSMIC |
| 7 | g.107683509G>C | CA368835956 | SLC26A4 | c.973G>C (p.Ala325Pro) | dbSNP |
| 7 | g.107683509G= | CA1732741974 | SLC26A4 | c.973G= (p.Ala325=) | |
| 7 | g.107683509G>T | CA368835953 | SLC26A4 | c.973G>T (p.Ala325Ser) | dbSNP |
| 7 | g.107683509_107683510insTTAA | CA2695208353 | SLC26A4 | c.973_974insTTAA (p.Ala325ValfsTer6) | |
| 7 | g.107683510C>A | CA368835963 | SLC26A4 | c.974C>A (p.Ala325Asp) | |
| 7 | g.107683510C>G | CA368835973 | SLC26A4 | c.974C>G (p.Ala325Gly) | |
| 7 | g.107683510C>T | CA368835967 | SLC26A4 | c.974C>T (p.Ala325Val) | |
| 7 | g.107683510_107683513delinsTTAAATTA | CA2695208354 | SLC26A4 | c.974_977delinsTTAAATTA (p.Ala325ValfsTer6) | |
| 7 | g.107683511T>A | CA457205378 | SLC26A4 | c.975T>A (p.Ala325=) | |
| 7 | g.107683511T>C | CA457205380 | SLC26A4 | c.975T>C (p.Ala325=) | |
| 7 | g.107683511T>G | CA457205382 | SLC26A4 | c.975T>G (p.Ala325=) | |
| 7 | g.107683512G>A | CA4432637 | SLC26A4 | c.976G>A (p.Gly326Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683512G>C | CA368836003 | SLC26A4 | c.976G>C (p.Gly326Arg) | |
| 7 | g.107683512G= | CA1732741977 | SLC26A4 | c.976G= (p.Gly326=) | |
| 7 | g.107683512G>T | CA368836008 | SLC26A4 | c.976G>T (p.Gly326Cys) | |
| 7 | g.107683513G>A | CA368836009 | SLC26A4 | c.977G>A (p.Gly326Asp) | |
| 7 | g.107683513G>C | CA368836010 | SLC26A4 | c.977G>C (p.Gly326Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683513G= | CA1732741983 | SLC26A4 | c.977G= (p.Gly326=) | |
| 7 | g.107683513G>T | CA368836011 | SLC26A4 | c.977G>T (p.Gly326Val) | |
| 7 | g.107683514C>A | CA457205384 | SLC26A4 | c.978C>A (p.Gly326=) | |
| 7 | g.107683514C= | CA1732741986 | SLC26A4 | c.978C= (p.Gly326=) | |
| 7 | g.107683514C>G | CA457205386 | SLC26A4 | c.978C>G (p.Gly326=) | |
| 7 | g.107683514C>T | CA457205387 | SLC26A4 | c.978C>T (p.Gly326=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107683515A>C | CA368836012 | SLC26A4 | c.979A>C (p.Ile327Leu) | COSMIC |
| 7 | g.107683515A>G | CA368836015 | SLC26A4 | c.979A>G (p.Ile327Val) | |
| 7 | g.107683515A>T | CA368836019 | SLC26A4 | c.979A>T (p.Ile327Phe) | |
| 7 | g.107683516T>A | CA368836021 | SLC26A4 | c.980T>A (p.Ile327Asn) | |
| 7 | g.107683516T>C | CA4432638 | SLC26A4 | c.980T>C (p.Ile327Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683516T>G | CA368836029 | SLC26A4 | c.980T>G (p.Ile327Ser) | |
| 7 | g.107683516T= | CA1732741989 | SLC26A4 | c.980T= (p.Ile327=) | |
| 7 | g.107683517T>A | CA457205391 | SLC26A4 | c.981T>A (p.Ile327=) | gnomAD v4 |
| 7 | g.107683517T>C | CA457205390 | SLC26A4 | c.981T>C (p.Ile327=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683517T>G | CA368836033 | SLC26A4 | c.981T>G (p.Ile327Met) | |
| 7 | g.107683518G>A | CA368836037 | SLC26A4 | c.982G>A (p.Val328Ile) | |
| 7 | g.107683518G>C | CA368836041 | SLC26A4 | c.982G>C (p.Val328Leu) | |
| 7 | g.107683518G>T | CA368836046 | SLC26A4 | c.982G>T (p.Val328Phe) | |
| 7 | g.107683519T>A | CA368836050 | SLC26A4 | c.983T>A (p.Val328Asp) | |
| 7 | g.107683519T>C | CA368836062 | SLC26A4 | c.983T>C (p.Val328Ala) | |
| 7 | g.107683519T>G | CA368836066 | SLC26A4 | c.983T>G (p.Val328Gly) | |
| 7 | g.107683520T>A | CA457205393 | SLC26A4 | c.984T>A (p.Val328=) | |
| 7 | g.107683520T>C | CA457205395 | SLC26A4 | c.984T>C (p.Val328=) | |
| 7 | g.107683520T>G | CA457205396 | SLC26A4 | c.984T>G (p.Val328=) | |
| 7 | g.107683521A>C | CA368836072 | SLC26A4 | c.985A>C (p.Lys329Gln) | |
| 7 | g.107683521A>G | CA368836083 | SLC26A4 | c.985A>G (p.Lys329Glu) | |
| 7 | g.107683521A>T | CA368836087 | SLC26A4 | c.985A>T (p.Lys329Ter) | |
| 7 | g.107683522A>C | CA368836092 | SLC26A4 | c.986A>C (p.Lys329Thr) | |
| 7 | g.107683522A>G | CA368836095 | SLC26A4 | c.986A>G (p.Lys329Arg) | |
| 7 | g.107683522A>T | CA368836105 | SLC26A4 | c.986A>T (p.Lys329Ile) | gnomAD v4 |
| 7 | g.107683523A>C | CA368836108 | SLC26A4 | c.987A>C (p.Lys329Asn) | |
| 7 | g.107683523A>G | CA457205403 | SLC26A4 | c.987A>G (p.Lys329=) | ClinVar dbSNP COSMIC |
| 7 | g.107683523A>T | CA368836113 | SLC26A4 | c.987A>T (p.Lys329Asn) | |
| 7 | g.107683524T>A | CA368836120 | SLC26A4 | c.988T>A (p.Ser330Thr) | |
| 7 | g.107683524T>C | CA368836130 | SLC26A4 | c.988T>C (p.Ser330Pro) | |
| 7 | g.107683524T>G | CA368836125 | SLC26A4 | c.988T>G (p.Ser330Ala) | |
| 7 | g.107683525C>A | CA368836133 | SLC26A4 | c.989C>A (p.Ser330Tyr) | |
| 7 | g.107683525C>G | CA368836135 | SLC26A4 | c.989C>G (p.Ser330Cys) | gnomAD v4 |
| 7 | g.107683525C>T | CA368836151 | SLC26A4 | c.989C>T (p.Ser330Phe) | |
| 7 | g.107683526C>A | CA457205408 | SLC26A4 | c.990C>A (p.Ser330=) | |
| 7 | g.107683526C= | CA1732741994 | SLC26A4 | c.990C= (p.Ser330=) | |
| 7 | g.107683526C>G | CA457205410 | SLC26A4 | c.990C>G (p.Ser330=) | |
| 7 | g.107683526C>T | CA4432639 | SLC26A4 | c.990C>T (p.Ser330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107683527del | CA2684466180 | SLC26A4 | c.991del (p.Ile331SerfsTer13) | gnomAD v4 |
| 7 | g.107683527A= | CA1732741997 | SLC26A4 | c.991A= (p.Ile331=) | |
| 7 | g.107683527A>C | CA368836159 | SLC26A4 | c.991A>C (p.Ile331Leu) | dbSNP |
| 7 | g.107683527A>G | CA368836174 | SLC26A4 | c.991A>G (p.Ile331Val) | gnomAD v4 |
| 7 | g.107683527A>T | CA368836176 | SLC26A4 | c.991A>T (p.Ile331Phe) | |
| 7 | g.107683527_107683528del | CA2578988724 | SLC26A4 | c.991_992del (p.Ile331ProfsTer8) | |
| 7 | g.107683528T>A | CA164205756 | SLC26A4 | c.992T>A (p.Ile331Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683528T>C | CA368836182 | SLC26A4 | c.992T>C (p.Ile331Thr) | dbSNP gnomAD v4 |
| 7 | g.107683528T>G | CA368836184 | SLC26A4 | c.992T>G (p.Ile331Ser) | |
| 7 | g.107683528T= | CA1732741999 | SLC26A4 | c.992T= (p.Ile331=) | |
| 7 | g.107683529C>A | CA457205416 | SLC26A4 | c.993C>A (p.Ile331=) | |
| 7 | g.107683529C= | CA1732742003 | SLC26A4 | c.993C= (p.Ile331=) | |
| 7 | g.107683529C>G | CA368836188 | SLC26A4 | c.993C>G (p.Ile331Met) | |
| 7 | g.107683529C>T | CA4432640 | SLC26A4 | c.993C>T (p.Ile331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107683530C>A | CA368836207 | SLC26A4 | c.994C>A (p.Pro332Thr) | |
| 7 | g.107683530C= | CA1732742005 | SLC26A4 | c.994C= (p.Pro332=) | |
| 7 | g.107683530C>G | CA368836202 | SLC26A4 | c.994C>G (p.Pro332Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683530C>T | CA368836196 | SLC26A4 | c.994C>T (p.Pro332Ser) | gnomAD v4 |
| 7 | g.107683531C>A | CA368836211 | SLC26A4 | c.995C>A (p.Pro332Gln) | |
| 7 | g.107683531C= | CA1732742007 | SLC26A4 | c.995C= (p.Pro332=) | |
| 7 | g.107683531C>G | CA368836213 | SLC26A4 | c.995C>G (p.Pro332Arg) | COSMIC |
| 7 | g.107683531C>T | CA368836215 | SLC26A4 | c.995C>T (p.Pro332Leu) | |
| 7 | g.107683532A= | CA1732742009 | SLC26A4 | c.996A= (p.Pro332=) | |
| 7 | g.107683532A>C | CA457205421 | SLC26A4 | c.996A>C (p.Pro332=) | |
| 7 | g.107683532A>G | CA457205422 | SLC26A4 | c.996A>G (p.Pro332=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683532A>T | CA457205423 | SLC26A4 | c.996A>T (p.Pro332=) | |
| 7 | g.107683533dup | CA267506 | SLC26A4 | c.997dup (p.Arg333LysfsTer7) | ClinVar dbSNP |
| 7 | g.107683533A= | CA1732742013 | SLC26A4 | c.997A= (p.Arg333=) | |
| 7 | g.107683533A>C | CA457205425 | SLC26A4 | c.997A>C (p.Arg333=) | |
| 7 | g.107683533A>G | CA368836216 | SLC26A4 | c.997A>G (p.Arg333Gly) | |
| 7 | g.107683533A>T | CA368836218 | SLC26A4 | c.997A>T (p.Arg333Trp) | |
| 7 | g.107683533_107683544del | CA2684466181 | SLC26A4 | c.997_1001+7del | gnomAD v4 |
| 7 | g.107683534G>A | CA368836223 | SLC26A4 | c.998G>A (p.Arg333Lys) | dbSNP gnomAD v4 COSMIC |
| 7 | g.107683534G>C | CA368836245 | SLC26A4 | c.998G>C (p.Arg333Thr) | gnomAD v4 |
| 7 | g.107683534G= | CA1732742018 | SLC26A4 | c.998G= (p.Arg333=) | |
| 7 | g.107683534G>T | CA368836250 | SLC26A4 | c.998G>T (p.Arg333Met) | |
| 7 | g.107683538dup | CA1732742017 | SLC26A4 | c.1001+1dup | dbSNP |
| 7 | g.107683534_107683544del | CA2578988731 | SLC26A4 | c.998_1001+7del | |
| 7 | g.107683535G>A | CA457205429 | SLC26A4 | c.999G>A (p.Arg333=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683535G>C | CA368836252 | SLC26A4 | c.999G>C (p.Arg333Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107683535G= | CA1732742022 | SLC26A4 | c.999G= (p.Arg333=) | |
| 7 | g.107683535G>T | CA368836256 | SLC26A4 | c.999G>T (p.Arg333Ser) | |
| 7 | g.107683536G>A | CA368836276 | SLC26A4 | c.1000G>A (p.Gly334Arg) | gnomAD v4 |
| 7 | g.107683536G>C | CA368836282 | SLC26A4 | c.1000G>C (p.Gly334Arg) | |
| 7 | g.107683536G= | CA1732742024 | SLC26A4 | c.1000G= (p.Gly334=) | |
| 7 | g.107683536G>T | CA4432641 | SLC26A4 | c.1000G>T (p.Gly334Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107683537G>A | CA164205791 | SLC26A4 | c.1001G>A (p.Gly334Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683537G>C | CA4432642 | SLC26A4 | c.1001G>C (p.Gly334Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107683537G= | CA1732742030 | SLC26A4 | c.1001G= (p.Gly334=) | |
| 7 | g.107683537G>T | CA274302 | SLC26A4 | c.1001G>T (p.Gly334Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683538G>A | CA261396 | SLC26A4 | c.1001+1G>A (n.1001+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683538G>C | CA368836315 | SLC26A4 | c.1001+1G>C (n.1001+1G>C) | ClinVar |
| 7 | g.107683538G= | CA1732742042 | SLC26A4 | c.1001+1G= (n.1001+1G=) | |
| 7 | g.107683538G>T | CA4432643 | SLC26A4 | c.1001+1G>T (n.1001+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107683539T>A | CA368836320 | SLC26A4 | c.1001+2T>A (n.1001+2T>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683539T>C | CA368836336 | SLC26A4 | c.1001+2T>C (n.1001+2T>C) | |
| 7 | g.107683539T>G | CA368836323 | SLC26A4 | c.1001+2T>G (n.1001+2T>G) | |
| 7 | g.107683540G>A | CA2684466182 | SLC26A4 | c.1001+3G>A (n.1001+3G>A) | gnomAD v4 |
| 7 | g.107683541A= | CA1732742048 | SLC26A4 | c.1001+4A= (n.1001+4A=) | |
| 7 | g.107683541A>C | CA831174513 | SLC26A4 | c.1001+4A>C (n.1001+4A>C) | dbSNP |
| 7 | g.107683541A>G | CA658821803 | SLC26A4 | c.1001+4A>G (n.1001+4A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107683542G>A | CA1732742054 | SLC26A4 | c.1001+5G>A (n.1001+5G>A) | dbSNP gnomAD v4 |
| 7 | g.107683542G>C | CA2695208355 | SLC26A4 | c.1001+5G>C (n.1001+5G>C) | |
| 7 | g.107683542G= | CA1732742055 | SLC26A4 | c.1001+5G= (n.1001+5G=) | |
| 7 | g.107683542G>T | CA164205833 | SLC26A4 | c.1001+5G>T (n.1001+5G>T) | ClinVar dbSNP |
| 7 | g.107683546_107683550dup | CA2684466183 | SLC26A4 | c.1001+9_1001+13dup (n.1001+9_1001+13dup) | gnomAD v4 |
| 7 | g.107683544G>C | CA577198882 | SLC26A4 | c.1001+7G>C (n.1001+7G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107683544G= | CA1732742060 | SLC26A4 | c.1001+7G= (n.1001+7G=) | |
| 7 | g.107683546G>A | CA1732742064 | SLC26A4 | c.1001+9G>A (n.1001+9G>A) | dbSNP gnomAD v4 |
| 7 | g.107683546G= | CA1732742062 | SLC26A4 | c.1001+9G= (n.1001+9G=) | |
| 7 | g.107683547G>C | CA2580076171 | SLC26A4 | c.1001+10G>C (n.1001+10G>C) | ClinVar gnomAD v4 |