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.107689042_107689044del | CA2684466367 | SLC26A4 | c.1002-11_1002-9del (n.1002-11_1002-9del) | gnomAD v4 |
| 7 | g.107689041A= | CA1732747167 | SLC26A4 | c.1002-12A= (n.1002-12A=) | |
| 7 | g.107689041A>G | CA658796988 | SLC26A4 | c.1002-12A>G (n.1002-12A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107689044A= | CA1732747169 | SLC26A4 | c.1002-9A= (n.1002-9A=) | |
| 7 | g.107689044A>C | CA132651 | SLC26A4 | c.1002-9A>C (n.1002-9A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689044A>G | CA2508952083 | SLC26A4 | c.1002-9A>G (n.1002-9A>G) | |
| 7 | g.107689045C>G | CA2695203095 | SLC26A4 | c.1002-8C>G (n.1002-8C>G) | |
| 7 | g.107689046T>C | CA2684466368 | SLC26A4 | c.1002-7T>C (n.1002-7T>C) | gnomAD v4 |
| 7 | g.107689048A= | CA1732747171 | SLC26A4 | c.1002-5A= (n.1002-5A=) | |
| 7 | g.107689048A>G | CA164210105 | SLC26A4 | c.1002-5A>G (n.1002-5A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689049C>G | CA2573052786 | SLC26A4 | c.1002-4C>G (n.1002-4C>G) | ClinVar dbSNP |
| 7 | g.107689049C>T | CA2684466369 | SLC26A4 | c.1002-4C>T (n.1002-4C>T) | gnomAD v4 |
| 7 | g.107689050T>C | CA577029356 | SLC26A4 | c.1002-3T>C (n.1002-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689050T= | CA1732747172 | SLC26A4 | c.1002-3T= (n.1002-3T=) | |
| 7 | g.107689051A>C | CA368838293 | SLC26A4 | c.1002-2A>C (n.1002-2A>C) | |
| 7 | g.107689051A>G | CA368838295 | SLC26A4 | c.1002-2A>G (n.1002-2A>G) | ClinVar |
| 7 | g.107689051A>T | CA368838296 | SLC26A4 | c.1002-2A>T (n.1002-2A>T) | |
| 7 | g.107689052G>A | CA368838298 | SLC26A4 | c.1002-1G>A (n.1002-1G>A) | |
| 7 | g.107689052G>C | CA368838299 | SLC26A4 | c.1002-1G>C (n.1002-1G>C) | dbSNP |
| 7 | g.107689052G= | CA1732747174 | SLC26A4 | c.1002-1G= (n.1002-1G=) | |
| 7 | g.107689052G>T | CA368838300 | SLC26A4 | c.1002-1G>T (n.1002-1G>T) | |
| 7 | g.107689053del | CA2695198368 | SLC26A4 | c.1002del | ClinVar |
| 7 | g.107689053G>A | CA457088019 | SLC26A4 | c.1002G>A (p.Gly334=) | COSMIC |
| 7 | g.107689053G>C | CA457088024 | SLC26A4 | c.1002G>C (p.Gly334=) | |
| 7 | g.107689053G= | CA1732747176 | SLC26A4 | c.1002G= (p.Gly334=) | |
| 7 | g.107689053G>T | CA457088030 | SLC26A4 | c.1002G>T (p.Gly334=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689054T>A | CA4432661 | SLC26A4 | c.1003T>A (p.Phe335Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689054T>C | CA253316 | SLC26A4 | c.1003T>C (p.Phe335Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689054T>G | CA368838305 | SLC26A4 | c.1003T>G (p.Phe335Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107689054T= | CA1732747177 | SLC26A4 | c.1003T= (p.Phe335=) | |
| 7 | g.107689058del | CA2684466370 | SLC26A4 | c.1007del (p.Leu336CysfsTer8) | gnomAD v4 |
| 7 | g.107689055T>A | CA368838310 | SLC26A4 | c.1004T>A (p.Phe335Tyr) | |
| 7 | g.107689055T>C | CA368838308 | SLC26A4 | c.1004T>C (p.Phe335Ser) | |
| 7 | g.107689055T>G | CA368838307 | SLC26A4 | c.1004T>G (p.Phe335Cys) | |
| 7 | g.107689056T>A | CA368838312 | SLC26A4 | c.1005T>A (p.Phe335Leu) | |
| 7 | g.107689056T>C | CA457088049 | SLC26A4 | c.1005T>C (p.Phe335=) | |
| 7 | g.107689056T>G | CA368838314 | SLC26A4 | c.1005T>G (p.Phe335Leu) | |
| 7 | g.107689057T>A | CA368838316 | SLC26A4 | c.1006T>A (p.Leu336Met) | |
| 7 | g.107689057T>C | CA457088064 | SLC26A4 | c.1006T>C (p.Leu336=) | |
| 7 | g.107689057T>G | CA368838317 | SLC26A4 | c.1006T>G (p.Leu336Val) | |
| 7 | g.107689058T>A | CA368838320 | SLC26A4 | c.1007T>A (p.Leu336Ter) | |
| 7 | g.107689058T>C | CA368838321 | SLC26A4 | c.1007T>C (p.Leu336Ser) | |
| 7 | g.107689058T>G | CA368838323 | SLC26A4 | c.1007T>G (p.Leu336Trp) | |
| 7 | g.107689059G>A | CA457088077 | SLC26A4 | c.1008G>A (p.Leu336=) | |
| 7 | g.107689059G>C | CA368838325 | SLC26A4 | c.1008G>C (p.Leu336Phe) | |
| 7 | g.107689059G>T | CA368838326 | SLC26A4 | c.1008G>T (p.Leu336Phe) | |
| 7 | g.107689060C>A | CA368838328 | SLC26A4 | c.1009C>A (p.Pro337Thr) | |
| 7 | g.107689060C>G | CA368838330 | SLC26A4 | c.1009C>G (p.Pro337Ala) | |
| 7 | g.107689060C>T | CA368838333 | SLC26A4 | c.1009C>T (p.Pro337Ser) | |
| 7 | g.107689061C>A | CA368838339 | SLC26A4 | c.1010C>A (p.Pro337His) | |
| 7 | g.107689061C>G | CA368838337 | SLC26A4 | c.1010C>G (p.Pro337Arg) | |
| 7 | g.107689061C>T | CA368838335 | SLC26A4 | c.1010C>T (p.Pro337Leu) | gnomAD v4 |
| 7 | g.107689062del | CA2573141441 | SLC26A4 | c.1011del (p.Pro338LeufsTer6) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107689062T>A | CA457088091 | SLC26A4 | c.1011T>A (p.Pro337=) | |
| 7 | g.107689062T>C | CA457088093 | SLC26A4 | c.1011T>C (p.Pro337=) | |
| 7 | g.107689062T>G | CA457088099 | SLC26A4 | c.1011T>G (p.Pro337=) | |
| 7 | g.107689063C>A | CA368838341 | SLC26A4 | c.1012C>A (p.Pro338Thr) | |
| 7 | g.107689063C>G | CA368838345 | SLC26A4 | c.1012C>G (p.Pro338Ala) | |
| 7 | g.107689063C>T | CA368838343 | SLC26A4 | c.1012C>T (p.Pro338Ser) | |
| 7 | g.107689064C>A | CA368838349 | SLC26A4 | c.1013C>A (p.Pro338His) | |
| 7 | g.107689064C>G | CA368838350 | SLC26A4 | c.1013C>G (p.Pro338Arg) | |
| 7 | g.107689064C>T | CA368838353 | SLC26A4 | c.1013C>T (p.Pro338Leu) | |
| 7 | g.107689065del | CA2684466371 | SLC26A4 | c.1014del (p.Glu339AsnfsTer5) | gnomAD v4 |
| 7 | g.107689065T>A | CA457088120 | SLC26A4 | c.1014T>A (p.Pro338=) | |
| 7 | g.107689065T>C | CA457088121 | SLC26A4 | c.1014T>C (p.Pro338=) | dbSNP |
| 7 | g.107689065T>G | CA457088125 | SLC26A4 | c.1014T>G (p.Pro338=) | ClinVar dbSNP |
| 7 | g.107689065T= | CA1732747179 | SLC26A4 | c.1014T= (p.Pro338=) | |
| 7 | g.107689066del | CA2580076139 | SLC26A4 | c.1015del (p.Glu339AsnfsTer5) | ClinVar |
| 7 | g.107689066G>A | CA368838357 | SLC26A4 | c.1015G>A (p.Glu339Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689066G>C | CA368838359 | SLC26A4 | c.1015G>C (p.Glu339Gln) | |
| 7 | g.107689066G= | CA1732747182 | SLC26A4 | c.1015G= (p.Glu339=) | |
| 7 | g.107689066G>T | CA368838361 | SLC26A4 | c.1015G>T (p.Glu339Ter) | |
| 7 | g.107689067A>C | CA368838367 | SLC26A4 | c.1016A>C (p.Glu339Ala) | |
| 7 | g.107689067A>G | CA368838363 | SLC26A4 | c.1016A>G (p.Glu339Gly) | |
| 7 | g.107689067A>T | CA368838365 | SLC26A4 | c.1016A>T (p.Glu339Val) | |
| 7 | g.107689068A= | CA1732747184 | SLC26A4 | c.1017A= (p.Glu339=) | |
| 7 | g.107689068A>C | CA368838370 | SLC26A4 | c.1017A>C (p.Glu339Asp) | gnomAD v4 |
| 7 | g.107689068A>G | CA457088145 | SLC26A4 | c.1017A>G (p.Glu339=) | ClinVar dbSNP |
| 7 | g.107689068A>T | CA368838376 | SLC26A4 | c.1017A>T (p.Glu339Asp) | |
| 7 | g.107689069C>A | CA368838380 | SLC26A4 | c.1018C>A (p.Leu340Ile) | |
| 7 | g.107689069C= | CA1732747186 | SLC26A4 | c.1018C= (p.Leu340=) | |
| 7 | g.107689069C>G | CA368838382 | SLC26A4 | c.1018C>G (p.Leu340Val) | |
| 7 | g.107689069C>T | CA368838384 | SLC26A4 | c.1018C>T (p.Leu340Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689070T>A | CA368838393 | SLC26A4 | c.1019T>A (p.Leu340His) | |
| 7 | g.107689070T>C | CA368838387 | SLC26A4 | c.1019T>C (p.Leu340Pro) | |
| 7 | g.107689070T>G | CA368838390 | SLC26A4 | c.1019T>G (p.Leu340Arg) | |
| 7 | g.107689071del | CA2695203101 | SLC26A4 | c.1020del (p.Pro341HisfsTer3) | |
| 7 | g.107689071T>A | CA457088166 | SLC26A4 | c.1020T>A (p.Leu340=) | gnomAD v4 |
| 7 | g.107689071T>C | CA457088172 | SLC26A4 | c.1020T>C (p.Leu340=) | |
| 7 | g.107689071T>G | CA457088169 | SLC26A4 | c.1020T>G (p.Leu340=) | |
| 7 | g.107689072C>A | CA368838395 | SLC26A4 | c.1021C>A (p.Pro341Thr) | |
| 7 | g.107689072C= | CA1732747188 | SLC26A4 | c.1021C= (p.Pro341=) | |
| 7 | g.107689072C>G | CA164210112 | SLC26A4 | c.1021C>G (p.Pro341Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689072C>T | CA368838399 | SLC26A4 | c.1021C>T (p.Pro341Ser) | |
| 7 | g.107689073dup | CA2695198369 | SLC26A4 | c.1022dup (p.Pro342ThrfsTer?) | ClinVar |
| 7 | g.107689073C>A | CA368838402 | SLC26A4 | c.1022C>A (p.Pro341Gln) | |
| 7 | g.107689073C= | CA1732747191 | SLC26A4 | c.1022C= (p.Pro341=) | |
| 7 | g.107689073C>G | CA368838405 | SLC26A4 | c.1022C>G (p.Pro341Arg) | |
| 7 | g.107689073C>T | CA164210117 | SLC26A4 | c.1022C>T (p.Pro341Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689074A>C | CA457088197 | SLC26A4 | c.1023A>C (p.Pro341=) | |
| 7 | g.107689074A>G | CA457088198 | SLC26A4 | c.1023A>G (p.Pro341=) | |
| 7 | g.107689074A>T | CA457088199 | SLC26A4 | c.1023A>T (p.Pro341=) | |
| 7 | g.107689075C>A | CA368838409 | SLC26A4 | c.1024C>A (p.Pro342Thr) | COSMIC |
| 7 | g.107689075C= | CA1732747195 | SLC26A4 | c.1024C= (p.Pro342=) | |
| 7 | g.107689075C>G | CA368838412 | SLC26A4 | c.1024C>G (p.Pro342Ala) | |
| 7 | g.107689075C>T | CA4432662 | SLC26A4 | c.1024C>T (p.Pro342Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689076C>A | CA368838416 | SLC26A4 | c.1025C>A (p.Pro342His) | COSMIC |
| 7 | g.107689076C= | CA1732747199 | SLC26A4 | c.1025C= (p.Pro342=) | |
| 7 | g.107689076C>G | CA368838418 | SLC26A4 | c.1025C>G (p.Pro342Arg) | gnomAD v4 |
| 7 | g.107689076C>T | CA164210125 | SLC26A4 | c.1025C>T (p.Pro342Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689077T>A | CA457088220 | SLC26A4 | c.1026T>A (p.Pro342=) | |
| 7 | g.107689077T>C | CA457088225 | SLC26A4 | c.1026T>C (p.Pro342=) | gnomAD v4 |
| 7 | g.107689077T>G | CA457088228 | SLC26A4 | c.1026T>G (p.Pro342=) | |
| 7 | g.107689078G>A | CA368838426 | SLC26A4 | c.1027G>A (p.Val343Met) | gnomAD v4 |
| 7 | g.107689078G>C | CA368838432 | SLC26A4 | c.1027G>C (p.Val343Leu) | ClinVar |
| 7 | g.107689078G>T | CA368838428 | SLC26A4 | c.1027G>T (p.Val343Leu) | |
| 7 | g.107689079T>A | CA368838436 | SLC26A4 | c.1028T>A (p.Val343Glu) | |
| 7 | g.107689079T>C | CA368838439 | SLC26A4 | c.1028T>C (p.Val343Ala) | |
| 7 | g.107689079T>G | CA368838444 | SLC26A4 | c.1028T>G (p.Val343Gly) | gnomAD v4 |
| 7 | g.107689080G>A | CA457088256 | SLC26A4 | c.1029G>A (p.Val343=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689080G>C | CA457088258 | SLC26A4 | c.1029G>C (p.Val343=) | |
| 7 | g.107689080G= | CA1732747204 | SLC26A4 | c.1029G= (p.Val343=) | |
| 7 | g.107689080G>T | CA457088259 | SLC26A4 | c.1029G>T (p.Val343=) | |
| 7 | g.107689081A= | CA1732747206 | SLC26A4 | c.1030A= (p.Ser344=) | |
| 7 | g.107689081A>C | CA368838446 | SLC26A4 | c.1030A>C (p.Ser344Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689081A>G | CA368838447 | SLC26A4 | c.1030A>G (p.Ser344Gly) | gnomAD v4 |
| 7 | g.107689081A>T | CA368838449 | SLC26A4 | c.1030A>T (p.Ser344Cys) | |
| 7 | g.107689082G>A | CA4432663 | SLC26A4 | c.1031G>A (p.Ser344Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689082G>C | CA368838453 | SLC26A4 | c.1031G>C (p.Ser344Thr) | |
| 7 | g.107689082G= | CA1732747210 | SLC26A4 | c.1031G= (p.Ser344=) | |
| 7 | g.107689082G>T | CA368838455 | SLC26A4 | c.1031G>T (p.Ser344Ile) | |
| 7 | g.107689083C>A | CA368838456 | SLC26A4 | c.1032C>A (p.Ser344Arg) | |
| 7 | g.107689083C= | CA1732747214 | SLC26A4 | c.1032C= (p.Ser344=) | |
| 7 | g.107689083C>G | CA368838458 | SLC26A4 | c.1032C>G (p.Ser344Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689083C>T | CA457088275 | SLC26A4 | c.1032C>T (p.Ser344=) | |
| 7 | g.107689084T>A | CA368838461 | SLC26A4 | c.1033T>A (p.Leu345Met) | |
| 7 | g.107689084T>C | CA457088282 | SLC26A4 | c.1033T>C (p.Leu345=) | |
| 7 | g.107689084T>G | CA368838464 | SLC26A4 | c.1033T>G (p.Leu345Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689084T= | CA1732747218 | SLC26A4 | c.1033T= (p.Leu345=) | |
| 7 | g.107689085T>A | CA368838466 | SLC26A4 | c.1034T>A (p.Leu345Ter) | ClinVar dbSNP |
| 7 | g.107689085T>C | CA368838470 | SLC26A4 | c.1034T>C (p.Leu345Ser) | |
| 7 | g.107689085T>G | CA368838468 | SLC26A4 | c.1034T>G (p.Leu345Trp) | |
| 7 | g.107689085T= | CA1732747220 | SLC26A4 | c.1034T= (p.Leu345=) | |
| 7 | g.107689086G>A | CA457088298 | SLC26A4 | c.1035G>A (p.Leu345=) | gnomAD v4 |
| 7 | g.107689086G>C | CA4432664 | SLC26A4 | c.1035G>C (p.Leu345Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689086G= | CA1732747222 | SLC26A4 | c.1035G= (p.Leu345=) | |
| 7 | g.107689086G>T | CA368838472 | SLC26A4 | c.1035G>T (p.Leu345Phe) | |
| 7 | g.107689087T>A | CA368838475 | SLC26A4 | c.1036T>A (p.Phe346Ile) | ClinVar dbSNP |
| 7 | g.107689087T>C | CA368838477 | SLC26A4 | c.1036T>C (p.Phe346Leu) | dbSNP |
| 7 | g.107689087T>G | CA368838479 | SLC26A4 | c.1036T>G (p.Phe346Val) | |
| 7 | g.107689087T= | CA1732747224 | SLC26A4 | c.1036T= (p.Phe346=) | |
| 7 | g.107689088T>A | CA368838481 | SLC26A4 | c.1037T>A (p.Phe346Tyr) | |
| 7 | g.107689088T>C | CA4432665 | SLC26A4 | c.1037T>C (p.Phe346Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689088T>G | CA368838484 | SLC26A4 | c.1037T>G (p.Phe346Cys) | |
| 7 | g.107689088T= | CA1732747226 | SLC26A4 | c.1037T= (p.Phe346=) | |
| 7 | g.107689089C>A | CA368838486 | SLC26A4 | c.1038C>A (p.Phe346Leu) | |
| 7 | g.107689089C>G | CA368838489 | SLC26A4 | c.1038C>G (p.Phe346Leu) | ClinVar |
| 7 | g.107689089C>T | CA457088320 | SLC26A4 | c.1038C>T (p.Phe346=) | |
| 7 | g.107689090T>A | CA368838495 | SLC26A4 | c.1039T>A (p.Ser347Thr) | |
| 7 | g.107689090T>C | CA368838493 | SLC26A4 | c.1039T>C (p.Ser347Pro) | |
| 7 | g.107689090T>G | CA368838491 | SLC26A4 | c.1039T>G (p.Ser347Ala) | |
| 7 | g.107689091C>A | CA368838497 | SLC26A4 | c.1040C>A (p.Ser347Ter) | |
| 7 | g.107689091C= | CA1732747229 | SLC26A4 | c.1040C= (p.Ser347=) | |
| 7 | g.107689091C>G | CA368838500 | SLC26A4 | c.1040C>G (p.Ser347Trp) | gnomAD v4 |
| 7 | g.107689091C>T | CA247979 | SLC26A4 | c.1040C>T (p.Ser347Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107689092G>A | CA4432666 | SLC26A4 | c.1041G>A (p.Ser347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107689092G>C | CA457088341 | SLC26A4 | c.1041G>C (p.Ser347=) | |
| 7 | g.107689092G= | CA1732747237 | SLC26A4 | c.1041G= (p.Ser347=) | |
| 7 | g.107689092G>T | CA457088338 | SLC26A4 | c.1041G>T (p.Ser347=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107689093G>A | CA368838504 | SLC26A4 | c.1042G>A (p.Glu348Lys) | gnomAD v4 COSMIC |
| 7 | g.107689093G>C | CA368838505 | SLC26A4 | c.1042G>C (p.Glu348Gln) | |
| 7 | g.107689093G>T | CA368838506 | SLC26A4 | c.1042G>T (p.Glu348Ter) | ClinVar gnomAD v4 |
| 7 | g.107689094A>C | CA368838510 | SLC26A4 | c.1043A>C (p.Glu348Ala) | |
| 7 | g.107689094A>G | CA368838507 | SLC26A4 | c.1043A>G (p.Glu348Gly) | |
| 7 | g.107689094A>T | CA368838508 | SLC26A4 | c.1043A>T (p.Glu348Val) | |
| 7 | g.107689095G>A | CA457088363 | SLC26A4 | c.1044G>A (p.Glu348=) | gnomAD v4 |
| 7 | g.107689095G>C | CA368838511 | SLC26A4 | c.1044G>C (p.Glu348Asp) | |
| 7 | g.107689095G>T | CA368838513 | SLC26A4 | c.1044G>T (p.Glu348Asp) | |
| 7 | g.107689096A>C | CA368838516 | SLC26A4 | c.1045A>C (p.Met349Leu) | |
| 7 | g.107689096A>G | CA368838517 | SLC26A4 | c.1045A>G (p.Met349Val) | |
| 7 | g.107689096A>T | CA368838518 | SLC26A4 | c.1045A>T (p.Met349Leu) | |
| 7 | g.107689097T>A | CA368838520 | SLC26A4 | c.1046T>A (p.Met349Lys) | |
| 7 | g.107689097T>C | CA368838524 | SLC26A4 | c.1046T>C (p.Met349Thr) | dbSNP COSMIC |
| 7 | g.107689097T>G | CA368838522 | SLC26A4 | c.1046T>G (p.Met349Arg) | |
| 7 | g.107689097T= | CA1732747242 | SLC26A4 | c.1046T= (p.Met349=) | |
| 7 | g.107689098G>A | CA4432667 | SLC26A4 | c.1047G>A (p.Met349Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689098G>C | CA368838529 | SLC26A4 | c.1047G>C (p.Met349Ile) | gnomAD v4 |
| 7 | g.107689098G= | CA1732747244 | SLC26A4 | c.1047G= (p.Met349=) | |
| 7 | g.107689098G>T | CA368838531 | SLC26A4 | c.1047G>T (p.Met349Ile) | gnomAD v4 |
| 7 | g.107689099C>A | CA368838534 | SLC26A4 | c.1048C>A (p.Leu350Met) | |
| 7 | g.107689099C>G | CA368838536 | SLC26A4 | c.1048C>G (p.Leu350Val) | |
| 7 | g.107689099C>T | CA457088402 | SLC26A4 | c.1048C>T (p.Leu350=) | ClinVar |
| 7 | g.107689100T>A | CA368838539 | SLC26A4 | c.1049T>A (p.Leu350Gln) | |
| 7 | g.107689100T>C | CA368838541 | SLC26A4 | c.1049T>C (p.Leu350Pro) | gnomAD v4 |
| 7 | g.107689100T>G | CA368838542 | SLC26A4 | c.1049T>G (p.Leu350Arg) | |
| 7 | g.107689101G>A | CA184789 | SLC26A4 | c.1050G>A (p.Leu350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689101G>C | CA457088419 | SLC26A4 | c.1050G>C (p.Leu350=) | |
| 7 | g.107689101G= | CA1732747248 | SLC26A4 | c.1050G= (p.Leu350=) | |
| 7 | g.107689101G>T | CA457088423 | SLC26A4 | c.1050G>T (p.Leu350=) | |
| 7 | g.107689102G>A | CA368838547 | SLC26A4 | c.1051G>A (p.Ala351Thr) | |
| 7 | g.107689102G>C | CA368838549 | SLC26A4 | c.1051G>C (p.Ala351Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689102G= | CA1732747251 | SLC26A4 | c.1051G= (p.Ala351=) | |
| 7 | g.107689102G>T | CA368838550 | SLC26A4 | c.1051G>T (p.Ala351Ser) | gnomAD v4 |
| 7 | g.107689103C>A | CA368838554 | SLC26A4 | c.1052C>A (p.Ala351Asp) | COSMIC |
| 7 | g.107689103C= | CA1732747255 | SLC26A4 | c.1052C= (p.Ala351=) | |
| 7 | g.107689103C>G | CA4432668 | SLC26A4 | c.1052C>G (p.Ala351Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689103C>T | CA368838555 | SLC26A4 | c.1052C>T (p.Ala351Val) | |
| 7 | g.107689104T>A | CA457088440 | SLC26A4 | c.1053T>A (p.Ala351=) | |
| 7 | g.107689104T>C | CA457088441 | SLC26A4 | c.1053T>C (p.Ala351=) | ClinVar |
| 7 | g.107689104T>G | CA457088445 | SLC26A4 | c.1053T>G (p.Ala351=) | |
| 7 | g.107689105del | CA2573052787 | SLC26A4 | c.1054del (p.Ala352HisfsTer16) | ClinVar dbSNP |
| 7 | g.107689105G>A | CA132652 | SLC26A4 | c.1054G>A (p.Ala352Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689105G>C | CA368838556 | SLC26A4 | c.1054G>C (p.Ala352Pro) | |
| 7 | g.107689105G= | CA1732747319 | SLC26A4 | c.1054G= (p.Ala352=) | |
| 7 | g.107689105G>T | CA368838557 | SLC26A4 | c.1054G>T (p.Ala352Ser) | |
| 7 | g.107689106C>A | CA368838559 | SLC26A4 | c.1055C>A (p.Ala352Glu) | |
| 7 | g.107689106C>G | CA368838560 | SLC26A4 | c.1055C>G (p.Ala352Gly) | gnomAD v4 |
| 7 | g.107689106C>T | CA368838562 | SLC26A4 | c.1055C>T (p.Ala352Val) | |
| 7 | g.107689107A= | CA1732747322 | SLC26A4 | c.1056A= (p.Ala352=) | |
| 7 | g.107689107A>C | CA457088462 | SLC26A4 | c.1056A>C (p.Ala352=) | |
| 7 | g.107689107A>G | CA457088465 | SLC26A4 | c.1056A>G (p.Ala352=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689107A>T | CA457088468 | SLC26A4 | c.1056A>T (p.Ala352=) | |
| 7 | g.107689108T>A | CA368838564 | SLC26A4 | c.1057T>A (p.Ser353Thr) | |
| 7 | g.107689108T>C | CA368838565 | SLC26A4 | c.1057T>C (p.Ser353Pro) | |
| 7 | g.107689108T>G | CA4432669 | SLC26A4 | c.1057T>G (p.Ser353Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689108T= | CA1732747327 | SLC26A4 | c.1057T= (p.Ser353=) | |
| 7 | g.107689109C>A | CA368838568 | SLC26A4 | c.1058C>A (p.Ser353Ter) | |
| 7 | g.107689109C>G | CA368838569 | SLC26A4 | c.1058C>G (p.Ser353Ter) | ClinVar COSMIC |
| 7 | g.107689109C>T | CA368838572 | SLC26A4 | c.1058C>T (p.Ser353Leu) | |
| 7 | g.107689110A= | CA1732747330 | SLC26A4 | c.1059A= (p.Ser353=) | |
| 7 | g.107689110A>C | CA457088486 | SLC26A4 | c.1059A>C (p.Ser353=) | |
| 7 | g.107689110A>G | CA457088489 | SLC26A4 | c.1059A>G (p.Ser353=) | |
| 7 | g.107689110A>T | CA457088492 | SLC26A4 | c.1059A>T (p.Ser353=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689111T>A | CA368838580 | SLC26A4 | c.1060T>A (p.Phe354Ile) | |
| 7 | g.107689111T>C | CA368838575 | SLC26A4 | c.1060T>C (p.Phe354Leu) | |
| 7 | g.107689111T>G | CA368838577 | SLC26A4 | c.1060T>G (p.Phe354Val) | |
| 7 | g.107689112T>A | CA368838582 | SLC26A4 | c.1061T>A (p.Phe354Tyr) | |
| 7 | g.107689112T>C | CA132656 | SLC26A4 | c.1061T>C (p.Phe354Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689112T>G | CA368838583 | SLC26A4 | c.1061T>G (p.Phe354Cys) | |
| 7 | g.107689112T= | CA1732747337 | SLC26A4 | c.1061T= (p.Phe354=) | |
| 7 | g.107689113T>A | CA368838585 | SLC26A4 | c.1062T>A (p.Phe354Leu) | |
| 7 | g.107689113T>C | CA457088514 | SLC26A4 | c.1062T>C (p.Phe354=) | |
| 7 | g.107689113T>G | CA368838588 | SLC26A4 | c.1062T>G (p.Phe354Leu) | |
| 7 | g.107689114T>A | CA368838589 | SLC26A4 | c.1063T>A (p.Ser355Thr) | |
| 7 | g.107689114T>C | CA4432670 | SLC26A4 | c.1063T>C (p.Ser355Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689114T>G | CA368838590 | SLC26A4 | c.1063T>G (p.Ser355Ala) | |
| 7 | g.107689114T= | CA1732747341 | SLC26A4 | c.1063T= (p.Ser355=) | |
| 7 | g.107689115C>A | CA368838591 | SLC26A4 | c.1064C>A (p.Ser355Tyr) | |
| 7 | g.107689115C= | CA1732747344 | SLC26A4 | c.1064C= (p.Ser355=) | |
| 7 | g.107689115C>G | CA368838592 | SLC26A4 | c.1064C>G (p.Ser355Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689115C>T | CA368838593 | SLC26A4 | c.1064C>T (p.Ser355Phe) | |
| 7 | g.107689116C>A | CA457088542 | SLC26A4 | c.1065C>A (p.Ser355=) | ClinVar dbSNP |
| 7 | g.107689116C>G | CA457088540 | SLC26A4 | c.1065C>G (p.Ser355=) | |
| 7 | g.107689116C>T | CA457088536 | SLC26A4 | c.1065C>T (p.Ser355=) | |
| 7 | g.107689117A= | CA1732747346 | SLC26A4 | c.1066A= (p.Ile356=) | |
| 7 | g.107689117A>C | CA368838597 | SLC26A4 | c.1066A>C (p.Ile356Leu) | dbSNP |
| 7 | g.107689117A>G | CA4432671 | SLC26A4 | c.1066A>G (p.Ile356Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689117A>T | CA368838595 | SLC26A4 | c.1066A>T (p.Ile356Phe) | |
| 7 | g.107689118T>A | CA368838599 | SLC26A4 | c.1067T>A (p.Ile356Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107689118T>C | CA4432672 | SLC26A4 | c.1067T>C (p.Ile356Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689118T>G | CA4432673 | SLC26A4 | c.1067T>G (p.Ile356Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689118T= | CA1732747348 | SLC26A4 | c.1067T= (p.Ile356=) | |
| 7 | g.107689119C>A | CA457088565 | SLC26A4 | c.1068C>A (p.Ile356=) | |
| 7 | g.107689119C= | CA1732747354 | SLC26A4 | c.1068C= (p.Ile356=) | |
| 7 | g.107689119C>G | CA368838605 | SLC26A4 | c.1068C>G (p.Ile356Met) | |
| 7 | g.107689119C>T | CA10627913 | SLC26A4 | c.1068C>T (p.Ile356=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689120G>A | CA132654 | SLC26A4 | c.1069G>A (p.Ala357Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689120G>C | CA368838618 | SLC26A4 | c.1069G>C (p.Ala357Pro) | |
| 7 | g.107689120G= | CA1732747359 | SLC26A4 | c.1069G= (p.Ala357=) | |
| 7 | g.107689120G>T | CA368838610 | SLC26A4 | c.1069G>T (p.Ala357Ser) | gnomAD v4 |
| 7 | g.107689121C>A | CA368838620 | SLC26A4 | c.1070C>A (p.Ala357Asp) | |
| 7 | g.107689121C>G | CA368838623 | SLC26A4 | c.1070C>G (p.Ala357Gly) | gnomAD v4 |
| 7 | g.107689121C>T | CA368838625 | SLC26A4 | c.1070C>T (p.Ala357Val) | |
| 7 | g.107689122T>A | CA457088590 | SLC26A4 | c.1071T>A (p.Ala357=) | gnomAD v4 |
| 7 | g.107689122T>C | CA457088594 | SLC26A4 | c.1071T>C (p.Ala357=) | dbSNP |
| 7 | g.107689122T>G | CA457088599 | SLC26A4 | c.1071T>G (p.Ala357=) | |
| 7 | g.107689123G>A | CA368838626 | SLC26A4 | c.1072G>A (p.Val358Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689123G>C | CA368838628 | SLC26A4 | c.1072G>C (p.Val358Leu) | |
| 7 | g.107689123G= | CA1732747362 | SLC26A4 | c.1072G= (p.Val358=) | |
| 7 | g.107689123G>T | CA368838631 | SLC26A4 | c.1072G>T (p.Val358Leu) | |
| 7 | g.107689124T>A | CA368838633 | SLC26A4 | c.1073T>A (p.Val358Glu) | |
| 7 | g.107689124T>C | CA4432674 | SLC26A4 | c.1073T>C (p.Val358Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689124T>G | CA368838638 | SLC26A4 | c.1073T>G (p.Val358Gly) | |
| 7 | g.107689124T= | CA1732747369 | SLC26A4 | c.1073T= (p.Val358=) | |
| 7 | g.107689125G>A | CA457088627 | SLC26A4 | c.1074G>A (p.Val358=) | gnomAD v4 |
| 7 | g.107689125G>C | CA457088629 | SLC26A4 | c.1074G>C (p.Val358=) | |
| 7 | g.107689125G>T | CA457088630 | SLC26A4 | c.1074G>T (p.Val358=) | |
| 7 | g.107689126G>A | CA368838641 | SLC26A4 | c.1075G>A (p.Val359Met) | gnomAD v4 COSMIC |
| 7 | g.107689126G>C | CA368838642 | SLC26A4 | c.1075G>C (p.Val359Leu) | |
| 7 | g.107689126G>T | CA368838645 | SLC26A4 | c.1075G>T (p.Val359Leu) | |
| 7 | g.107689127T>A | CA4432675 | SLC26A4 | c.1076T>A (p.Val359Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107689127T>C | CA368838653 | SLC26A4 | c.1076T>C (p.Val359Ala) | dbSNP |
| 7 | g.107689127T>G | CA368838650 | SLC26A4 | c.1076T>G (p.Val359Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689127T= | CA1732747370 | SLC26A4 | c.1076T= (p.Val359=) | |
| 7 | g.107689128G>A | CA457088650 | SLC26A4 | c.1077G>A (p.Val359=) | gnomAD v4 |
| 7 | g.107689128G>C | CA457088652 | SLC26A4 | c.1077G>C (p.Val359=) | |
| 7 | g.107689128G>T | CA457088654 | SLC26A4 | c.1077G>T (p.Val359=) | |
| 7 | g.107689129G>A | CA368838656 | SLC26A4 | c.1078G>A (p.Ala360Thr) | |
| 7 | g.107689129G>C | CA368838658 | SLC26A4 | c.1078G>C (p.Ala360Pro) | |
| 7 | g.107689129G>T | CA368838660 | SLC26A4 | c.1078G>T (p.Ala360Ser) | |
| 7 | g.107689130C>A | CA368838662 | SLC26A4 | c.1079C>A (p.Ala360Asp) | |
| 7 | g.107689130C= | CA1732747371 | SLC26A4 | c.1079C= (p.Ala360=) | |
| 7 | g.107689130C>G | CA368838665 | SLC26A4 | c.1079C>G (p.Ala360Gly) | |
| 7 | g.107689130C>T | CA273966 | SLC26A4 | c.1079C>T (p.Ala360Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689131T>A | CA457088676 | SLC26A4 | c.1080T>A (p.Ala360=) | |
| 7 | g.107689131T>C | CA457088679 | SLC26A4 | c.1080T>C (p.Ala360=) | |
| 7 | g.107689131T>G | CA457088681 | SLC26A4 | c.1080T>G (p.Ala360=) | |
| 7 | g.107689132del | CA2684466372 | SLC26A4 | c.1081del (p.Tyr361MetfsTer7) | gnomAD v4 |
| 7 | g.107689132T>A | CA368838667 | SLC26A4 | c.1081T>A (p.Tyr361Asn) | |
| 7 | g.107689132T>C | CA368838670 | SLC26A4 | c.1081T>C (p.Tyr361His) | |
| 7 | g.107689132T>G | CA368838673 | SLC26A4 | c.1081T>G (p.Tyr361Asp) | |
| 7 | g.107689133A>C | CA368838677 | SLC26A4 | c.1082A>C (p.Tyr361Ser) | |
| 7 | g.107689133A>G | CA368838680 | SLC26A4 | c.1082A>G (p.Tyr361Cys) | |
| 7 | g.107689133A>T | CA368838675 | SLC26A4 | c.1082A>T (p.Tyr361Phe) | |
| 7 | g.107689134T>A | CA368838682 | SLC26A4 | c.1083T>A (p.Tyr361Ter) | |
| 7 | g.107689134T>C | CA457088702 | SLC26A4 | c.1083T>C (p.Tyr361=) | ClinVar dbSNP |
| 7 | g.107689134T>G | CA368838685 | SLC26A4 | c.1083T>G (p.Tyr361Ter) | |
| 7 | g.107689135G>A | CA368838688 | SLC26A4 | c.1084G>A (p.Ala362Thr) | dbSNP gnomAD v2 |
| 7 | g.107689135G>C | CA368838690 | SLC26A4 | c.1084G>C (p.Ala362Pro) | |
| 7 | g.107689135G= | CA1732747372 | SLC26A4 | c.1084G= (p.Ala362=) | |
| 7 | g.107689135G>T | CA368838693 | SLC26A4 | c.1084G>T (p.Ala362Ser) | |
| 7 | g.107689136C>A | CA16042657 | SLC26A4 | c.1085C>A (p.Ala362Asp) | ClinVar dbSNP |
| 7 | g.107689136C= | CA1732747373 | SLC26A4 | c.1085C= (p.Ala362=) | |
| 7 | g.107689136C>G | CA368838694 | SLC26A4 | c.1085C>G (p.Ala362Gly) | |
| 7 | g.107689136C>T | CA368838696 | SLC26A4 | c.1085C>T (p.Ala362Val) | |
| 7 | g.107689137T>A | CA457088724 | SLC26A4 | c.1086T>A (p.Ala362=) | |
| 7 | g.107689137T>C | CA457088726 | SLC26A4 | c.1086T>C (p.Ala362=) | |
| 7 | g.107689137T>G | CA457088730 | SLC26A4 | c.1086T>G (p.Ala362=) | |
| 7 | g.107689137dup | CA2695203107 | SLC26A4 | c.1086dup (p.Ile363TyrfsTer14) | |
| 7 | g.107689138A= | CA1732747374 | SLC26A4 | c.1087A= (p.Ile363=) | |
| 7 | g.107689138A>C | CA368838700 | SLC26A4 | c.1087A>C (p.Ile363Leu) | ClinVar dbSNP |
| 7 | g.107689138A>G | CA4432676 | SLC26A4 | c.1087A>G (p.Ile363Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107689138A>T | CA368838703 | SLC26A4 | c.1087A>T (p.Ile363Phe) | |
| 7 | g.107689139T>A | CA368838707 | SLC26A4 | c.1088T>A (p.Ile363Asn) | |
| 7 | g.107689139T>C | CA368838709 | SLC26A4 | c.1088T>C (p.Ile363Thr) | |
| 7 | g.107689139T>G | CA368838705 | SLC26A4 | c.1088T>G (p.Ile363Ser) | |
| 7 | g.107689140T>A | CA457088756 | SLC26A4 | c.1089T>A (p.Ile363=) | |
| 7 | g.107689140T>C | CA457088753 | SLC26A4 | c.1089T>C (p.Ile363=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107689140T>G | CA368838711 | SLC26A4 | c.1089T>G (p.Ile363Met) | |
| 7 | g.107689140T= | CA1732747375 | SLC26A4 | c.1089T= (p.Ile363=) | |
| 7 | g.107689141G>A | CA368838712 | SLC26A4 | c.1090G>A (p.Ala364Thr) | |
| 7 | g.107689141G>C | CA368838715 | SLC26A4 | c.1090G>C (p.Ala364Pro) | |
| 7 | g.107689141G>T | CA368838718 | SLC26A4 | c.1090G>T (p.Ala364Ser) | gnomAD v4 |