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.107674193G>A | CA4432484 | SLC26A4 | c.445G>A (p.Gly149Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674193G>C | CA368847889 | SLC26A4 | c.445G>C (p.Gly149Arg) | |
| 7 | g.107674193G= | CA1732745929 | SLC26A4 | c.445G= (p.Gly149=) | |
| 7 | g.107674193G>T | CA368847891 | SLC26A4 | c.445G>T (p.Gly149Ter) | |
| 7 | g.107674194G>A | CA164216304 | SLC26A4 | c.446G>A (p.Gly149Glu) | dbSNP |
| 7 | g.107674194G>C | CA368847893 | SLC26A4 | c.446G>C (p.Gly149Ala) | dbSNP |
| 7 | g.107674194G= | CA1732745935 | SLC26A4 | c.446G= (p.Gly149=) | |
| 7 | g.107674194G>T | CA368847895 | SLC26A4 | c.446G>T (p.Gly149Val) | |
| 7 | g.107674195A>C | CA457105345 | SLC26A4 | c.447A>C (p.Gly149=) | |
| 7 | g.107674195A>G | CA457105346 | SLC26A4 | c.447A>G (p.Gly149=) | |
| 7 | g.107674195A>T | CA457105347 | SLC26A4 | c.447A>T (p.Gly149=) | |
| 7 | g.107674196T>A | CA368847897 | SLC26A4 | c.448T>A (p.Ser150Thr) | gnomAD v4 |
| 7 | g.107674196T>C | CA368847898 | SLC26A4 | c.448T>C (p.Ser150Pro) | dbSNP |
| 7 | g.107674196T>G | CA368847900 | SLC26A4 | c.448T>G (p.Ser150Ala) | |
| 7 | g.107674196T= | CA1732745938 | SLC26A4 | c.448T= (p.Ser150=) | |
| 7 | g.107674197C>A | CA368847905 | SLC26A4 | c.449C>A (p.Ser150Tyr) | |
| 7 | g.107674197C= | CA1732745941 | SLC26A4 | c.449C= (p.Ser150=) | |
| 7 | g.107674197C>G | CA368847903 | SLC26A4 | c.449C>G (p.Ser150Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674197C>T | CA368847901 | SLC26A4 | c.449C>T (p.Ser150Phe) | |
| 7 | g.107674198T>A | CA457105349 | SLC26A4 | c.450T>A (p.Ser150=) | |
| 7 | g.107674198T>C | CA457105350 | SLC26A4 | c.450T>C (p.Ser150=) | |
| 7 | g.107674198T>G | CA457105351 | SLC26A4 | c.450T>G (p.Ser150=) | |
| 7 | g.107674202_107674204del | CA2715528550 | SLC26A4 | c.454_456del (p.Val152del) | dbSNP |
| 7 | g.107674199del | CA658820729 | SLC26A4 | c.451del (p.Val151LeufsTer3) | |
| 7 | g.107674199G>A | CA368847907 | SLC26A4 | c.451G>A (p.Val151Ile) | gnomAD v4 |
| 7 | g.107674199G>C | CA4432485 | SLC26A4 | c.451G>C (p.Val151Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674199G= | CA1732745945 | SLC26A4 | c.451G= (p.Val151=) | |
| 7 | g.107674199G>T | CA368847910 | SLC26A4 | c.451G>T (p.Val151Phe) | dbSNP |
| 7 | g.107674200T>A | CA368847912 | SLC26A4 | c.452T>A (p.Val151Asp) | |
| 7 | g.107674200T>C | CA368847913 | SLC26A4 | c.452T>C (p.Val151Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674200T>G | CA368847914 | SLC26A4 | c.452T>G (p.Val151Gly) | |
| 7 | g.107674200T= | CA1732745950 | SLC26A4 | c.452T= (p.Val151=) | |
| 7 | g.107674201T>A | CA457105352 | SLC26A4 | c.453T>A (p.Val151=) | |
| 7 | g.107674201T>C | CA457105353 | SLC26A4 | c.453T>C (p.Val151=) | |
| 7 | g.107674201T>G | CA457105354 | SLC26A4 | c.453T>G (p.Val151=) | ClinVar |
| 7 | g.107674201_107674202delinsTG | CA1732745952 | SLC26A4 | c.453_454delinsTG (p.Val151=) | |
| 7 | g.107674202_107674203del | CA913111818 | SLC26A4 | c.454_455del (p.Val152SerfsTer29) | |
| 7 | g.107674202del | CA658821333 | SLC26A4 | c.454del (p.Val152PhefsTer2) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674202G>A | CA164216313 | SLC26A4 | c.454G>A (p.Val152Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674202G>C | CA368847916 | SLC26A4 | c.454G>C (p.Val152Leu) | |
| 7 | g.107674202G= | CA1732745956 | SLC26A4 | c.454G= (p.Val152=) | |
| 7 | g.107674202G>T | CA368847918 | SLC26A4 | c.454G>T (p.Val152Phe) | |
| 7 | g.107674203T>A | CA368847920 | SLC26A4 | c.455T>A (p.Val152Asp) | |
| 7 | g.107674203T>C | CA368847922 | SLC26A4 | c.455T>C (p.Val152Ala) | gnomAD v4 COSMIC |
| 7 | g.107674203T>G | CA368847924 | SLC26A4 | c.455T>G (p.Val152Gly) | |
| 7 | g.107674204T>A | CA457105355 | SLC26A4 | c.456T>A (p.Val152=) | |
| 7 | g.107674204T>C | CA457105356 | SLC26A4 | c.456T>C (p.Val152=) | |
| 7 | g.107674204T>G | CA457105357 | SLC26A4 | c.456T>G (p.Val152=) | |
| 7 | g.107674205C>A | CA368847927 | SLC26A4 | c.457C>A (p.Leu153Met) | |
| 7 | g.107674205C>G | CA368847926 | SLC26A4 | c.457C>G (p.Leu153Val) | |
| 7 | g.107674205C>T | CA457105358 | SLC26A4 | c.457C>T (p.Leu153=) | |
| 7 | g.107674206T>A | CA368847930 | SLC26A4 | c.458T>A (p.Leu153Gln) | |
| 7 | g.107674206T>C | CA368847932 | SLC26A4 | c.458T>C (p.Leu153Pro) | |
| 7 | g.107674206T>G | CA368847933 | SLC26A4 | c.458T>G (p.Leu153Arg) | |
| 7 | g.107674207G>A | CA457105359 | SLC26A4 | c.459G>A (p.Leu153=) | |
| 7 | g.107674207G>C | CA457105360 | SLC26A4 | c.459G>C (p.Leu153=) | |
| 7 | g.107674207G>T | CA457105361 | SLC26A4 | c.459G>T (p.Leu153=) | |
| 7 | g.107674208_107674209del | CA2580076167 | SLC26A4 | c.460_461del (p.Ser154HisfsTer27) | ClinVar |
| 7 | g.107674208A>C | CA368847934 | SLC26A4 | c.460A>C (p.Ser154Arg) | |
| 7 | g.107674208A>G | CA368847935 | SLC26A4 | c.460A>G (p.Ser154Gly) | |
| 7 | g.107674208A>T | CA368847938 | SLC26A4 | c.460A>T (p.Ser154Cys) | gnomAD v4 |
| 7 | g.107674209G>A | CA368847945 | SLC26A4 | c.461G>A (p.Ser154Asn) | |
| 7 | g.107674209G>C | CA368847942 | SLC26A4 | c.461G>C (p.Ser154Thr) | |
| 7 | g.107674209G>T | CA368847944 | SLC26A4 | c.461G>T (p.Ser154Ile) | |
| 7 | g.107674210C>A | CA368847947 | SLC26A4 | c.462C>A (p.Ser154Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674210C= | CA1732745959 | SLC26A4 | c.462C= (p.Ser154=) | |
| 7 | g.107674210C>G | CA368847948 | SLC26A4 | c.462C>G (p.Ser154Arg) | |
| 7 | g.107674210C>T | CA457105362 | SLC26A4 | c.462C>T (p.Ser154=) | ClinVar COSMIC |
| 7 | g.107674211A= | CA1732745964 | SLC26A4 | c.463A= (p.Met155=) | |
| 7 | g.107674211A>C | CA368847950 | SLC26A4 | c.463A>C (p.Met155Leu) | |
| 7 | g.107674211A>G | CA4432486 | SLC26A4 | c.463A>G (p.Met155Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674211A>T | CA368847953 | SLC26A4 | c.463A>T (p.Met155Leu) | |
| 7 | g.107674212T>A | CA368847955 | SLC26A4 | c.464T>A (p.Met155Lys) | |
| 7 | g.107674212T>C | CA368847958 | SLC26A4 | c.464T>C (p.Met155Thr) | gnomAD v4 |
| 7 | g.107674212T>G | CA368847957 | SLC26A4 | c.464T>G (p.Met155Arg) | |
| 7 | g.107674213G>A | CA368847959 | SLC26A4 | c.465G>A (p.Met155Ile) | |
| 7 | g.107674213G>C | CA368847960 | SLC26A4 | c.465G>C (p.Met155Ile) | |
| 7 | g.107674213G>T | CA368847961 | SLC26A4 | c.465G>T (p.Met155Ile) | |
| 7 | g.107674214G>A | CA368847962 | SLC26A4 | c.466G>A (p.Ala156Thr) | |
| 7 | g.107674214G>C | CA4432487 | SLC26A4 | c.466G>C (p.Ala156Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674214G= | CA1732745971 | SLC26A4 | c.466G= (p.Ala156=) | |
| 7 | g.107674214G>T | CA368847963 | SLC26A4 | c.466G>T (p.Ala156Ser) | |
| 7 | g.107674214_107674224delinsGCCCCCGACGA | CA1732745972 | SLC26A4 | c.466_476delinsGCCCCCGACGA (p.Ala156=) | |
| 7 | g.107674215C>A | CA368847964 | SLC26A4 | c.467C>A (p.Ala156Asp) | gnomAD v4 |
| 7 | g.107674215C= | CA1732745975 | SLC26A4 | c.467C= (p.Ala156=) | |
| 7 | g.107674215C>G | CA368847965 | SLC26A4 | c.467C>G (p.Ala156Gly) | |
| 7 | g.107674215C>T | CA368847966 | SLC26A4 | c.467C>T (p.Ala156Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674215_107674224del | CA1732745976 | SLC26A4 | c.467_476del (p.Ala156AspfsTer13) | dbSNP |
| 7 | g.107674216C>A | CA457105366 | SLC26A4 | c.468C>A (p.Ala156=) | dbSNP |
| 7 | g.107674216C>G | CA457105365 | SLC26A4 | c.468C>G (p.Ala156=) | |
| 7 | g.107674216C>T | CA457105364 | SLC26A4 | c.468C>T (p.Ala156=) | |
| 7 | g.107674217C>A | CA368847968 | SLC26A4 | c.469C>A (p.Pro157Thr) | |
| 7 | g.107674217C= | CA1732745978 | SLC26A4 | c.469C= (p.Pro157=) | |
| 7 | g.107674217C>G | CA368847970 | SLC26A4 | c.469C>G (p.Pro157Ala) | |
| 7 | g.107674217C>T | CA368847972 | SLC26A4 | c.469C>T (p.Pro157Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107674218C>A | CA368847981 | SLC26A4 | c.470C>A (p.Pro157His) | |
| 7 | g.107674218C>G | CA368847979 | SLC26A4 | c.470C>G (p.Pro157Arg) | |
| 7 | g.107674218C>T | CA368847977 | SLC26A4 | c.470C>T (p.Pro157Leu) | gnomAD v4 COSMIC |
| 7 | g.107674219C>A | CA457105367 | SLC26A4 | c.471C>A (p.Pro157=) | |
| 7 | g.107674219C= | CA1732745981 | SLC26A4 | c.471C= (p.Pro157=) | |
| 7 | g.107674219C>G | CA457105368 | SLC26A4 | c.471C>G (p.Pro157=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674219C>T | CA4432488 | SLC26A4 | c.471C>T (p.Pro157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107674220G>A | CA4432489 | SLC26A4 | c.472G>A (p.Asp158Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674220G>C | CA368847986 | SLC26A4 | c.472G>C (p.Asp158His) | dbSNP gnomAD v4 |
| 7 | g.107674220G= | CA1732745982 | SLC26A4 | c.472G= (p.Asp158=) | |
| 7 | g.107674220G>T | CA368847985 | SLC26A4 | c.472G>T (p.Asp158Tyr) | |
| 7 | g.107674221A>C | CA368847988 | SLC26A4 | c.473A>C (p.Asp158Ala) | |
| 7 | g.107674221A>G | CA368847989 | SLC26A4 | c.473A>G (p.Asp158Gly) | |
| 7 | g.107674221A>T | CA368847990 | SLC26A4 | c.473A>T (p.Asp158Val) | |
| 7 | g.107674222C>A | CA368847991 | SLC26A4 | c.474C>A (p.Asp158Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674222C= | CA1732745984 | SLC26A4 | c.474C= (p.Asp158=) | |
| 7 | g.107674222C>G | CA368847992 | SLC26A4 | c.474C>G (p.Asp158Glu) | |
| 7 | g.107674222C>T | CA457105370 | SLC26A4 | c.474C>T (p.Asp158=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.107674223G>A | CA368847994 | SLC26A4 | c.475G>A (p.Glu159Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.107674223G>C | CA368847995 | SLC26A4 | c.475G>C (p.Glu159Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674223G= | CA1732745990 | SLC26A4 | c.475G= (p.Glu159=) | |
| 7 | g.107674223G>T | CA368847997 | SLC26A4 | c.475G>T (p.Glu159Ter) | |
| 7 | g.107674223_107674224delinsGA | CA1732745996 | SLC26A4 | c.475_476delinsGA (p.Glu159=) | |
| 7 | g.107674224A>C | CA368847998 | SLC26A4 | c.476A>C (p.Glu159Ala) | gnomAD v4 |
| 7 | g.107674224A>G | CA368847999 | SLC26A4 | c.476A>G (p.Glu159Gly) | gnomAD v4 |
| 7 | g.107674224A>T | CA368848000 | SLC26A4 | c.476A>T (p.Glu159Val) | |
| 7 | g.107674225del | CA4432490 | SLC26A4 | c.477del (p.Glu159AspfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674225A>C | CA368848001 | SLC26A4 | c.477A>C (p.Glu159Asp) | |
| 7 | g.107674225A>G | CA457105371 | SLC26A4 | c.477A>G (p.Glu159=) | |
| 7 | g.107674225A>T | CA368848002 | SLC26A4 | c.477A>T (p.Glu159Asp) | gnomAD v4 |
| 7 | g.107674226C>A | CA368848003 | SLC26A4 | c.478C>A (p.His160Asn) | |
| 7 | g.107674226C>G | CA368848004 | SLC26A4 | c.478C>G (p.His160Asp) | |
| 7 | g.107674226C>T | CA368848005 | SLC26A4 | c.478C>T (p.His160Tyr) | |
| 7 | g.107674227A= | CA1732746001 | SLC26A4 | c.479A= (p.His160=) | |
| 7 | g.107674227A>C | CA368848006 | SLC26A4 | c.479A>C (p.His160Pro) | |
| 7 | g.107674227A>G | CA368848007 | SLC26A4 | c.479A>G (p.His160Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674227A>T | CA368848008 | SLC26A4 | c.479A>T (p.His160Leu) | |
| 7 | g.107674228C>A | CA368848009 | SLC26A4 | c.480C>A (p.His160Gln) | |
| 7 | g.107674228C>G | CA368848010 | SLC26A4 | c.480C>G (p.His160Gln) | |
| 7 | g.107674228C>T | CA457105372 | SLC26A4 | c.480C>T (p.His160=) | gnomAD v4 |
| 7 | g.107674229T>A | CA368848011 | SLC26A4 | c.481T>A (p.Phe161Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674229T>C | CA368848012 | SLC26A4 | c.481T>C (p.Phe161Leu) | |
| 7 | g.107674229T>G | CA368848014 | SLC26A4 | c.481T>G (p.Phe161Val) | |
| 7 | g.107674229T= | CA1732746003 | SLC26A4 | c.481T= (p.Phe161=) | |
| 7 | g.107674230T>A | CA368848018 | SLC26A4 | c.482T>A (p.Phe161Tyr) | |
| 7 | g.107674230T>C | CA368848020 | SLC26A4 | c.482T>C (p.Phe161Ser) | |
| 7 | g.107674230T>G | CA368848016 | SLC26A4 | c.482T>G (p.Phe161Cys) | |
| 7 | g.107674231T>A | CA368848022 | SLC26A4 | c.483T>A (p.Phe161Leu) | |
| 7 | g.107674231T>C | CA457105373 | SLC26A4 | c.483T>C (p.Phe161=) | |
| 7 | g.107674231T>G | CA368848023 | SLC26A4 | c.483T>G (p.Phe161Leu) | |
| 7 | g.107674232C>A | CA368848025 | SLC26A4 | c.484C>A (p.Leu162Ile) | dbSNP |
| 7 | g.107674232C>G | CA368848027 | SLC26A4 | c.484C>G (p.Leu162Val) | |
| 7 | g.107674232C>T | CA368848029 | SLC26A4 | c.484C>T (p.Leu162Phe) | |
| 7 | g.107674233T>A | CA368848031 | SLC26A4 | c.485T>A (p.Leu162His) | |
| 7 | g.107674233T>C | CA368848033 | SLC26A4 | c.485T>C (p.Leu162Pro) | |
| 7 | g.107674233T>G | CA368848039 | SLC26A4 | c.485T>G (p.Leu162Arg) | |
| 7 | g.107674234C>A | CA457105374 | SLC26A4 | c.486C>A (p.Leu162=) | gnomAD v4 |
| 7 | g.107674234C= | CA1732746008 | SLC26A4 | c.486C= (p.Leu162=) | |
| 7 | g.107674234C>G | CA4432492 | SLC26A4 | c.486C>G (p.Leu162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674234C>T | CA4432491 | SLC26A4 | c.486C>T (p.Leu162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107674234_107674235delinsCG | CA1732746012 | SLC26A4 | c.486_487delinsCG (p.Leu162=) | |
| 7 | g.107674235del | CA577198874 | SLC26A4 | c.487del (p.Val163TyrfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674235G>A | CA4432494 | SLC26A4 | c.487G>A (p.Val163Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107674235G>C | CA4432493 | SLC26A4 | c.487G>C (p.Val163Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674235G= | CA1732746020 | SLC26A4 | c.487G= (p.Val163=) | |
| 7 | g.107674235G>T | CA368848043 | SLC26A4 | c.487G>T (p.Val163Leu) | |
| 7 | g.107674236T>A | CA368848052 | SLC26A4 | c.488T>A (p.Val163Glu) | |
| 7 | g.107674236T>C | CA4432495 | SLC26A4 | c.488T>C (p.Val163Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674236T>G | CA368848046 | SLC26A4 | c.488T>G (p.Val163Gly) | |
| 7 | g.107674236T= | CA1732746026 | SLC26A4 | c.488T= (p.Val163=) | |
| 7 | g.107674237A= | CA1732746028 | SLC26A4 | c.489A= (p.Val163=) | |
| 7 | g.107674237A>C | CA457105375 | SLC26A4 | c.489A>C (p.Val163=) | |
| 7 | g.107674237A>G | CA457105376 | SLC26A4 | c.489A>G (p.Val163=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674237A>T | CA457105377 | SLC26A4 | c.489A>T (p.Val163=) | dbSNP |
| 7 | g.107674238T>A | CA368848054 | SLC26A4 | c.490T>A (p.Ser164Thr) | |
| 7 | g.107674238T>C | CA368848056 | SLC26A4 | c.490T>C (p.Ser164Pro) | gnomAD v4 |
| 7 | g.107674238T>G | CA368848058 | SLC26A4 | c.490T>G (p.Ser164Ala) | dbSNP |
| 7 | g.107674238T= | CA1732746033 | SLC26A4 | c.490T= (p.Ser164=) | |
| 7 | g.107674239C>A | CA368848059 | SLC26A4 | c.491C>A (p.Ser164Tyr) | |
| 7 | g.107674239C>G | CA368848066 | SLC26A4 | c.491C>G (p.Ser164Cys) | |
| 7 | g.107674239C>T | CA368848068 | SLC26A4 | c.491C>T (p.Ser164Phe) | gnomAD v4 |
| 7 | g.107674240C>A | CA457105378 | SLC26A4 | c.492C>A (p.Ser164=) | |
| 7 | g.107674240C>G | CA457105379 | SLC26A4 | c.492C>G (p.Ser164=) | |
| 7 | g.107674240C>T | CA457105380 | SLC26A4 | c.492C>T (p.Ser164=) | |
| 7 | g.107674241A= | CA1732746036 | SLC26A4 | c.493A= (p.Ser165=) | |
| 7 | g.107674241A>C | CA368848070 | SLC26A4 | c.493A>C (p.Ser165Arg) | |
| 7 | g.107674241A>G | CA368848072 | SLC26A4 | c.493A>G (p.Ser165Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674241A>T | CA368848074 | SLC26A4 | c.493A>T (p.Ser165Cys) | |
| 7 | g.107674242G>A | CA368848076 | SLC26A4 | c.494G>A (p.Ser165Asn) | |
| 7 | g.107674242G>C | CA368848078 | SLC26A4 | c.494G>C (p.Ser165Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674242G= | CA1732746039 | SLC26A4 | c.494G= (p.Ser165=) | |
| 7 | g.107674242G>T | CA368848080 | SLC26A4 | c.494G>T (p.Ser165Ile) | |
| 7 | g.107674243C>A | CA368848083 | SLC26A4 | c.495C>A (p.Ser165Arg) | gnomAD v4 |
| 7 | g.107674243C>G | CA368848085 | SLC26A4 | c.495C>G (p.Ser165Arg) | gnomAD v4 |
| 7 | g.107674243C>T | CA457105381 | SLC26A4 | c.495C>T (p.Ser165=) | |
| 7 | g.107674244del | CA2684461505 | SLC26A4 | c.496del (p.Ser166AlafsTer6) | gnomAD v4 |
| 7 | g.107674244A= | CA1732746041 | SLC26A4 | c.496A= (p.Ser166=) | |
| 7 | g.107674244A>C | CA368848089 | SLC26A4 | c.496A>C (p.Ser166Arg) | |
| 7 | g.107674244A>G | CA4432496 | SLC26A4 | c.496A>G (p.Ser166Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674244A>T | CA368848087 | SLC26A4 | c.496A>T (p.Ser166Cys) | |
| 7 | g.107674245G>A | CA368848092 | SLC26A4 | c.497G>A (p.Ser166Asn) | ClinVar |
| 7 | g.107674245G>C | CA368848096 | SLC26A4 | c.497G>C (p.Ser166Thr) | |
| 7 | g.107674245G>T | CA368848094 | SLC26A4 | c.497G>T (p.Ser166Ile) | |
| 7 | g.107674246C>A | CA368848098 | SLC26A4 | c.498C>A (p.Ser166Arg) | |
| 7 | g.107674246C>G | CA368848100 | SLC26A4 | c.498C>G (p.Ser166Arg) | |
| 7 | g.107674246C>T | CA457105382 | SLC26A4 | c.498C>T (p.Ser166=) | |
| 7 | g.107674247A= | CA1732746043 | SLC26A4 | c.499A= (p.Asn167=) | |
| 7 | g.107674247A>C | CA368848101 | SLC26A4 | c.499A>C (p.Asn167His) | |
| 7 | g.107674247A>G | CA368848103 | SLC26A4 | c.499A>G (p.Asn167Asp) | dbSNP gnomAD v4 |
| 7 | g.107674247A>T | CA368848105 | SLC26A4 | c.499A>T (p.Asn167Tyr) | |
| 7 | g.107674248A>C | CA368848106 | SLC26A4 | c.500A>C (p.Asn167Thr) | |
| 7 | g.107674248A>G | CA368848107 | SLC26A4 | c.500A>G (p.Asn167Ser) | |
| 7 | g.107674248A>T | CA368848110 | SLC26A4 | c.500A>T (p.Asn167Ile) | |
| 7 | g.107674249T>A | CA368848111 | SLC26A4 | c.501T>A (p.Asn167Lys) | dbSNP gnomAD v4 |
| 7 | g.107674249T>C | CA457105383 | SLC26A4 | c.501T>C (p.Asn167=) | ClinVar dbSNP |
| 7 | g.107674249T>G | CA368848112 | SLC26A4 | c.501T>G (p.Asn167Lys) | |
| 7 | g.107674249T= | CA1732746045 | SLC26A4 | c.501T= (p.Asn167=) | |
| 7 | g.107674249_107674250insCAA | CA4432497 | SLC26A4 | c.501_502insCAA (p.Asn167_Gly168insGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674250G>A | CA368848113 | SLC26A4 | c.502G>A (p.Gly168Arg) | |
| 7 | g.107674250G>C | CA368848114 | SLC26A4 | c.502G>C (p.Gly168Arg) | |
| 7 | g.107674250G>T | CA368848115 | SLC26A4 | c.502G>T (p.Gly168Ter) | |
| 7 | g.107674251G>A | CA368848117 | SLC26A4 | c.503G>A (p.Gly168Glu) | gnomAD v4 |
| 7 | g.107674251G>C | CA368848120 | SLC26A4 | c.503G>C (p.Gly168Ala) | |
| 7 | g.107674251G>T | CA368848119 | SLC26A4 | c.503G>T (p.Gly168Val) | |
| 7 | g.107674252A>C | CA457105386 | SLC26A4 | c.504A>C (p.Gly168=) | |
| 7 | g.107674252A>G | CA457105387 | SLC26A4 | c.504A>G (p.Gly168=) | |
| 7 | g.107674252A>T | CA457105388 | SLC26A4 | c.504A>T (p.Gly168=) | gnomAD v4 |
| 7 | g.107674253del | CA2695208343 | SLC26A4 | c.505del (p.Thr169LeufsTer3) | |
| 7 | g.107674253A>C | CA368848122 | SLC26A4 | c.505A>C (p.Thr169Pro) | |
| 7 | g.107674253A>G | CA368848124 | SLC26A4 | c.505A>G (p.Thr169Ala) | |
| 7 | g.107674253A>T | CA368848125 | SLC26A4 | c.505A>T (p.Thr169Ser) | |
| 7 | g.107674254C>A | CA368848128 | SLC26A4 | c.506C>A (p.Thr169Asn) | |
| 7 | g.107674254C= | CA1732746055 | SLC26A4 | c.506C= (p.Thr169=) | |
| 7 | g.107674254C>G | CA368848129 | SLC26A4 | c.506C>G (p.Thr169Ser) | |
| 7 | g.107674254C>T | CA368848131 | SLC26A4 | c.506C>T (p.Thr169Ile) | dbSNP gnomAD v4 |
| 7 | g.107674255T>A | CA457105391 | SLC26A4 | c.507T>A (p.Thr169=) | |
| 7 | g.107674255T>C | CA457105390 | SLC26A4 | c.507T>C (p.Thr169=) | |
| 7 | g.107674255T>G | CA457105389 | SLC26A4 | c.507T>G (p.Thr169=) | |
| 7 | g.107674256G>A | CA368848133 | SLC26A4 | c.508G>A (p.Val170Ile) | |
| 7 | g.107674256G>C | CA368848134 | SLC26A4 | c.508G>C (p.Val170Leu) | dbSNP |
| 7 | g.107674256G= | CA1732746056 | SLC26A4 | c.508G= (p.Val170=) | |
| 7 | g.107674256G>T | CA368848135 | SLC26A4 | c.508G>T (p.Val170Leu) | |
| 7 | g.107674257T>A | CA368848137 | SLC26A4 | c.509T>A (p.Val170Glu) | |
| 7 | g.107674257T>C | CA368848139 | SLC26A4 | c.509T>C (p.Val170Ala) | |
| 7 | g.107674257T>G | CA368848136 | SLC26A4 | c.509T>G (p.Val170Gly) | |
| 7 | g.107674258del | CA2684461580 | SLC26A4 | c.510del (p.Leu171Ter) | gnomAD v4 |
| 7 | g.107674258A= | CA1732746058 | SLC26A4 | c.510A= (p.Val170=) | |
| 7 | g.107674258A>C | CA457105392 | SLC26A4 | c.510A>C (p.Val170=) | |
| 7 | g.107674258A>G | CA164216344 | SLC26A4 | c.510A>G (p.Val170=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674258A>T | CA457105393 | SLC26A4 | c.510A>T (p.Val170=) | |
| 7 | g.107674259T>A | CA368848141 | SLC26A4 | c.511T>A (p.Leu171Ile) | |
| 7 | g.107674259T>C | CA457105394 | SLC26A4 | c.511T>C (p.Leu171=) | |
| 7 | g.107674259T>G | CA368848143 | SLC26A4 | c.511T>G (p.Leu171Val) | |
| 7 | g.107674260T>A | CA368848145 | SLC26A4 | c.512T>A (p.Leu171Ter) | |
| 7 | g.107674260T>C | CA4432498 | SLC26A4 | c.512T>C (p.Leu171Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674260T>G | CA368848149 | SLC26A4 | c.512T>G (p.Leu171Ter) | |
| 7 | g.107674260T= | CA1732746063 | SLC26A4 | c.512T= (p.Leu171=) | |
| 7 | g.107674261A>C | CA368848150 | SLC26A4 | c.513A>C (p.Leu171Phe) | |
| 7 | g.107674261A>G | CA457105395 | SLC26A4 | c.513A>G (p.Leu171=) | |
| 7 | g.107674261A>T | CA368848152 | SLC26A4 | c.513A>T (p.Leu171Phe) | |
| 7 | g.107674262A>C | CA368848154 | SLC26A4 | c.514A>C (p.Asn172His) | |
| 7 | g.107674262A>G | CA368848156 | SLC26A4 | c.514A>G (p.Asn172Asp) | |
| 7 | g.107674262A>T | CA368848158 | SLC26A4 | c.514A>T (p.Asn172Tyr) | |
| 7 | g.107674263A= | CA1732746066 | SLC26A4 | c.515A= (p.Asn172=) | |
| 7 | g.107674263A>C | CA368848160 | SLC26A4 | c.515A>C (p.Asn172Thr) | |
| 7 | g.107674263A>G | CA4432499 | SLC26A4 | c.515A>G (p.Asn172Ser) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.107674263A>T | CA368848162 | SLC26A4 | c.515A>T (p.Asn172Ile) | |
| 7 | g.107674264T>A | CA368848164 | SLC26A4 | c.516T>A (p.Asn172Lys) | |
| 7 | g.107674264T>C | CA457105397 | SLC26A4 | c.516T>C (p.Asn172=) | |
| 7 | g.107674264T>G | CA368848165 | SLC26A4 | c.516T>G (p.Asn172Lys) | |
| 7 | g.107674265A>C | CA368848166 | SLC26A4 | c.517A>C (p.Thr173Pro) | |
| 7 | g.107674265A>G | CA368848167 | SLC26A4 | c.517A>G (p.Thr173Ala) | |
| 7 | g.107674265A>T | CA368848168 | SLC26A4 | c.517A>T (p.Thr173Ser) | |
| 7 | g.107674266C>A | CA368848169 | SLC26A4 | c.518C>A (p.Thr173Asn) | |
| 7 | g.107674266C>G | CA368848170 | SLC26A4 | c.518C>G (p.Thr173Ser) | |
| 7 | g.107674266C>T | CA368848171 | SLC26A4 | c.518C>T (p.Thr173Ile) | |
| 7 | g.107674266dup | CA2580076172 | SLC26A4 | c.518dup (p.Thr174TyrfsTer8) | ClinVar |
| 7 | g.107674267T>A | CA457105398 | SLC26A4 | c.519T>A (p.Thr173=) | |
| 7 | g.107674267T>C | CA457105399 | SLC26A4 | c.519T>C (p.Thr173=) | gnomAD v4 |
| 7 | g.107674267T>G | CA457105400 | SLC26A4 | c.519T>G (p.Thr173=) | |
| 7 | g.107674268A>C | CA368848172 | SLC26A4 | c.520A>C (p.Thr174Pro) | |
| 7 | g.107674268A>G | CA368848173 | SLC26A4 | c.520A>G (p.Thr174Ala) | gnomAD v4 |
| 7 | g.107674268A>T | CA368848174 | SLC26A4 | c.520A>T (p.Thr174Ser) | |
| 7 | g.107674269C>A | CA368848175 | SLC26A4 | c.521C>A (p.Thr174Asn) | |
| 7 | g.107674269C= | CA1732746071 | SLC26A4 | c.521C= (p.Thr174=) | |
| 7 | g.107674269C>G | CA10576711 | SLC26A4 | c.521C>G (p.Thr174Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674269C>T | CA368848177 | SLC26A4 | c.521C>T (p.Thr174Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674270T>A | CA457105402 | SLC26A4 | c.522T>A (p.Thr174=) | gnomAD v4 |
| 7 | g.107674270T>C | CA457105403 | SLC26A4 | c.522T>C (p.Thr174=) | ClinVar dbSNP gnomAD v2 |
| 7 | g.107674270T>G | CA4432500 | SLC26A4 | c.522T>G (p.Thr174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674270T= | CA1732746074 | SLC26A4 | c.522T= (p.Thr174=) | |
| 7 | g.107674271A= | CA1732746079 | SLC26A4 | c.523A= (p.Met175=) | |
| 7 | g.107674271A>C | CA368848184 | SLC26A4 | c.523A>C (p.Met175Leu) | |
| 7 | g.107674271A>G | CA4432501 | SLC26A4 | c.523A>G (p.Met175Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674271A>T | CA368848182 | SLC26A4 | c.523A>T (p.Met175Leu) | |
| 7 | g.107674272T>A | CA368848185 | SLC26A4 | c.524T>A (p.Met175Lys) | |
| 7 | g.107674272T>C | CA368848186 | SLC26A4 | c.524T>C (p.Met175Thr) | dbSNP gnomAD v4 |
| 7 | g.107674272T>G | CA368848187 | SLC26A4 | c.524T>G (p.Met175Arg) | |
| 7 | g.107674272T= | CA1732746083 | SLC26A4 | c.524T= (p.Met175=) | |
| 7 | g.107674273G>A | CA164216355 | SLC26A4 | c.525G>A (p.Met175Ile) | dbSNP COSMIC |
| 7 | g.107674273G>C | CA368848190 | SLC26A4 | c.525G>C (p.Met175Ile) | COSMIC |
| 7 | g.107674273G= | CA1732746084 | SLC26A4 | c.525G= (p.Met175=) | |
| 7 | g.107674273G>T | CA368848191 | SLC26A4 | c.525G>T (p.Met175Ile) | gnomAD v4 |
| 7 | g.107674274A>C | CA368848192 | SLC26A4 | c.526A>C (p.Ile176Leu) | |
| 7 | g.107674274A>G | CA368848193 | SLC26A4 | c.526A>G (p.Ile176Val) | |
| 7 | g.107674274A>T | CA368848194 | SLC26A4 | c.526A>T (p.Ile176Leu) | |
| 7 | g.107674275T>A | CA368848197 | SLC26A4 | c.527T>A (p.Ile176Lys) | |
| 7 | g.107674275T>C | CA4432502 | SLC26A4 | c.527T>C (p.Ile176Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674275T>G | CA368848198 | SLC26A4 | c.527T>G (p.Ile176Arg) | |
| 7 | g.107674275T= | CA1732746092 | SLC26A4 | c.527T= (p.Ile176=) | |
| 7 | g.107674276A>C | CA457105404 | SLC26A4 | c.528A>C (p.Ile176=) | |
| 7 | g.107674276A>G | CA368848201 | SLC26A4 | c.528A>G (p.Ile176Met) | |
| 7 | g.107674276A>T | CA457105405 | SLC26A4 | c.528A>T (p.Ile176=) | |
| 7 | g.107674277G>A | CA368848206 | SLC26A4 | c.529G>A (p.Asp177Asn) | |
| 7 | g.107674277G>C | CA368848204 | SLC26A4 | c.529G>C (p.Asp177His) | |
| 7 | g.107674277G>T | CA368848203 | SLC26A4 | c.529G>T (p.Asp177Tyr) | |
| 7 | g.107674278A= | CA1732746095 | SLC26A4 | c.530A= (p.Asp177=) | |
| 7 | g.107674278A>C | CA368848208 | SLC26A4 | c.530A>C (p.Asp177Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674278A>G | CA368848210 | SLC26A4 | c.530A>G (p.Asp177Gly) | |
| 7 | g.107674278A>T | CA368848211 | SLC26A4 | c.530A>T (p.Asp177Val) | |
| 7 | g.107674279C>A | CA368848212 | SLC26A4 | c.531C>A (p.Asp177Glu) | |
| 7 | g.107674279C= | CA1732746099 | SLC26A4 | c.531C= (p.Asp177=) | |
| 7 | g.107674279C>G | CA368848214 | SLC26A4 | c.531C>G (p.Asp177Glu) | |
| 7 | g.107674279C>T | CA457105406 | SLC26A4 | c.531C>T (p.Asp177=) | ClinVar dbSNP |
| 7 | g.107674280A= | CA1732746102 | SLC26A4 | c.532A= (p.Thr178=) | |
| 7 | g.107674280A>C | CA4432503 | SLC26A4 | c.532A>C (p.Thr178Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674280A>G | CA368848215 | SLC26A4 | c.532A>G (p.Thr178Ala) | |
| 7 | g.107674280A>T | CA368848216 | SLC26A4 | c.532A>T (p.Thr178Ser) | |
| 7 | g.107674281C>A | CA368848217 | SLC26A4 | c.533C>A (p.Thr178Asn) | dbSNP |
| 7 | g.107674281C= | CA1732746105 | SLC26A4 | c.533C= (p.Thr178=) | |
| 7 | g.107674281C>G | CA368848219 | SLC26A4 | c.533C>G (p.Thr178Ser) | |
| 7 | g.107674281C>T | CA368848220 | SLC26A4 | c.533C>T (p.Thr178Ile) | COSMIC |
| 7 | g.107674282T>A | CA457105407 | SLC26A4 | c.534T>A (p.Thr178=) | |
| 7 | g.107674282T>C | CA457105408 | SLC26A4 | c.534T>C (p.Thr178=) | gnomAD v4 |
| 7 | g.107674282T>G | CA457105409 | SLC26A4 | c.534T>G (p.Thr178=) | |
| 7 | g.107674283_107674294dup | CA1732746109 | SLC26A4 | c.535_546dup (p.Asp182_Thr183insAlaAlaArgAsp) | dbSNP gnomAD v4 |
| 7 | g.107674283G>A | CA4432504 | SLC26A4 | c.535G>A (p.Ala179Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674283G>C | CA368848221 | SLC26A4 | c.535G>C (p.Ala179Pro) | |
| 7 | g.107674283G= | CA1732746112 | SLC26A4 | c.535G= (p.Ala179=) | |
| 7 | g.107674283G>T | CA368848222 | SLC26A4 | c.535G>T (p.Ala179Ser) | dbSNP gnomAD v4 |
| 7 | g.107674284C>A | CA368848224 | SLC26A4 | c.536C>A (p.Ala179Glu) | gnomAD v4 |
| 7 | g.107674284C= | CA1732746120 | SLC26A4 | c.536C= (p.Ala179=) | |
| 7 | g.107674284C>G | CA368848226 | SLC26A4 | c.536C>G (p.Ala179Gly) | |
| 7 | g.107674284C>T | CA368848223 | SLC26A4 | c.536C>T (p.Ala179Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674284_107674285delinsCA | CA1732746118 | SLC26A4 | c.536_537delinsCA (p.Ala179=) | |
| 7 | g.107674284_107674286delinsCAG | CA1732746119 | SLC26A4 | c.536_538delinsCAG (p.Ala179=) | |
| 7 | g.107674285del | CA831175392 | SLC26A4 | c.537del (p.Ala180LeufsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674285A= | CA1732746124 | SLC26A4 | c.537A= (p.Ala179=) | |
| 7 | g.107674285A>C | CA457105410 | SLC26A4 | c.537A>C (p.Ala179=) | |
| 7 | g.107674285A>G | CA457105411 | SLC26A4 | c.537A>G (p.Ala179=) | gnomAD v4 |
| 7 | g.107674285A>T | CA457105412 | SLC26A4 | c.537A>T (p.Ala179=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674285_107674286delinsC | CA915945412 | SLC26A4 | c.537_538delinsC (p.Ala180LeufsTer8) | ClinVar dbSNP |
| 7 | g.107674286G>A | CA368848228 | SLC26A4 | c.538G>A (p.Ala180Thr) | |
| 7 | g.107674286G>C | CA368848230 | SLC26A4 | c.538G>C (p.Ala180Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674286G= | CA1732746128 | SLC26A4 | c.538G= (p.Ala180=) | |
| 7 | g.107674286G>T | CA368848231 | SLC26A4 | c.538G>T (p.Ala180Ser) | |
| 7 | g.107674287C>A | CA368848232 | SLC26A4 | c.539C>A (p.Ala180Asp) | dbSNP |
| 7 | g.107674287C= | CA1732746131 | SLC26A4 | c.539C= (p.Ala180=) | |
| 7 | g.107674287C>G | CA368848233 | SLC26A4 | c.539C>G (p.Ala180Gly) | |
| 7 | g.107674287C>T | CA368848235 | SLC26A4 | c.539C>T (p.Ala180Val) | |
| 7 | g.107674288T>A | CA457105413 | SLC26A4 | c.540T>A (p.Ala180=) | gnomAD v4 |
| 7 | g.107674288T>C | CA457105415 | SLC26A4 | c.540T>C (p.Ala180=) | gnomAD v4 |
| 7 | g.107674288T>G | CA457105414 | SLC26A4 | c.540T>G (p.Ala180=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674288T= | CA1732746134 | SLC26A4 | c.540T= (p.Ala180=) | |
| 7 | g.107674289A= | CA1732746138 | SLC26A4 | c.541A= (p.Arg181=) | |
| 7 | g.107674289A>C | CA457105416 | SLC26A4 | c.541A>C (p.Arg181=) | |
| 7 | g.107674289A>G | CA368848236 | SLC26A4 | c.541A>G (p.Arg181Gly) | dbSNP |
| 7 | g.107674289A>T | CA368848238 | SLC26A4 | c.541A>T (p.Arg181Ter) | |
| 7 | g.107674290G>A | CA368848240 | SLC26A4 | c.542G>A (p.Arg181Lys) | dbSNP |
| 7 | g.107674290G>C | CA368848241 | SLC26A4 | c.542G>C (p.Arg181Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674290G= | CA1732746142 | SLC26A4 | c.542G= (p.Arg181=) | |
| 7 | g.107674290G>T | CA368848242 | SLC26A4 | c.542G>T (p.Arg181Ile) | gnomAD v4 |
| 7 | g.107674291A= | CA1732746146 | SLC26A4 | c.543A= (p.Arg181=) | |
| 7 | g.107674291A>C | CA368848244 | SLC26A4 | c.543A>C (p.Arg181Ser) | |
| 7 | g.107674291A>G | CA457105417 | SLC26A4 | c.543A>G (p.Arg181=) | |
| 7 | g.107674291A>T | CA164216363 | SLC26A4 | c.543A>T (p.Arg181Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674292G>A | CA368848256 | SLC26A4 | c.544G>A (p.Asp182Asn) | |
| 7 | g.107674292G>C | CA164216364 | SLC26A4 | c.544G>C (p.Asp182His) | dbSNP gnomAD v4 |
| 7 | g.107674292G= | CA1732746150 | SLC26A4 | c.544G= (p.Asp182=) | |
| 7 | g.107674292G>T | CA368848253 | SLC26A4 | c.544G>T (p.Asp182Tyr) | |
| 7 | g.107674293A= | CA1732746159 | SLC26A4 | c.545A= (p.Asp182=) | |
| 7 | g.107674293A>C | CA368848258 | SLC26A4 | c.545A>C (p.Asp182Ala) | |
| 7 | g.107674293A>G | CA368848259 | SLC26A4 | c.545A>G (p.Asp182Gly) | |
| 7 | g.107674293A>T | CA132730 | SLC26A4 | c.545A>T (p.Asp182Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |