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.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 |
| 7 | g.107674294T>A | CA368848262 | SLC26A4 | c.546T>A (p.Asp182Glu) | |
| 7 | g.107674294T>C | CA457105418 | SLC26A4 | c.546T>C (p.Asp182=) | |
| 7 | g.107674294T>G | CA368848270 | SLC26A4 | c.546T>G (p.Asp182Glu) | |
| 7 | g.107674295A>C | CA368848275 | SLC26A4 | c.547A>C (p.Thr183Pro) | gnomAD v4 |
| 7 | g.107674295A>G | CA368848277 | SLC26A4 | c.547A>G (p.Thr183Ala) | |
| 7 | g.107674295A>T | CA368848278 | SLC26A4 | c.547A>T (p.Thr183Ser) | |
| 7 | g.107674296C>A | CA368848281 | SLC26A4 | c.548C>A (p.Thr183Lys) | |
| 7 | g.107674296C>G | CA368848282 | SLC26A4 | c.548C>G (p.Thr183Arg) | |
| 7 | g.107674296C>T | CA368848283 | SLC26A4 | c.548C>T (p.Thr183Ile) | |
| 7 | g.107674296_107674297delinsCA | CA1732746163 | SLC26A4 | c.548_549delinsCA (p.Thr183=) | |
| 7 | g.107674297del | CA831175431 | SLC26A4 | c.549del (p.Ala184LeufsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674297A>C | CA457105422 | SLC26A4 | c.549A>C (p.Thr183=) | |
| 7 | g.107674297A>G | CA457105423 | SLC26A4 | c.549A>G (p.Thr183=) | gnomAD v4 |
| 7 | g.107674297A>T | CA457105424 | SLC26A4 | c.549A>T (p.Thr183=) | |
| 7 | g.107674298G>A | CA368848286 | SLC26A4 | c.550G>A (p.Ala184Thr) | |
| 7 | g.107674298G>C | CA368848289 | SLC26A4 | c.550G>C (p.Ala184Pro) | |
| 7 | g.107674298G>T | CA368848288 | SLC26A4 | c.550G>T (p.Ala184Ser) | |
| 7 | g.107674299C>A | CA368848292 | SLC26A4 | c.551C>A (p.Ala184Asp) | |
| 7 | g.107674299C= | CA1732746171 | SLC26A4 | c.551C= (p.Ala184=) | |
| 7 | g.107674299C>G | CA368848295 | SLC26A4 | c.551C>G (p.Ala184Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674299C>T | CA368848293 | SLC26A4 | c.551C>T (p.Ala184Val) | |
| 7 | g.107674300T>A | CA457105432 | SLC26A4 | c.552T>A (p.Ala184=) | |
| 7 | g.107674300T>C | CA457105434 | SLC26A4 | c.552T>C (p.Ala184=) | dbSNP |
| 7 | g.107674300T>G | CA457105435 | SLC26A4 | c.552T>G (p.Ala184=) | |
| 7 | g.107674300T= | CA1732746175 | SLC26A4 | c.552T= (p.Ala184=) | |
| 7 | g.107674301A>C | CA457105437 | SLC26A4 | c.553A>C (p.Arg185=) | |
| 7 | g.107674301A>G | CA368848298 | SLC26A4 | c.553A>G (p.Arg185Gly) | |
| 7 | g.107674301A>T | CA368848299 | SLC26A4 | c.553A>T (p.Arg185Ter) | ClinVar |
| 7 | g.107674303_107674304del | CA2580617073 | SLC26A4 | c.555_556del (p.Arg185SerfsTer?) | ClinVar |
| 7 | g.107674302G>A | CA368848301 | SLC26A4 | c.554G>A (p.Arg185Lys) | |
| 7 | g.107674302G>C | CA274070 | SLC26A4 | c.554G>C (p.Arg185Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674302G= | CA1732746180 | SLC26A4 | c.554G= (p.Arg185=) | |
| 7 | g.107674302G>T | CA368848304 | SLC26A4 | c.554G>T (p.Arg185Ile) | |
| 7 | g.107674304_107674310del | CA2684461708 | SLC26A4 | c.556_562del (p.Val186LeufsTer5) | ClinVar gnomAD v4 |
| 7 | g.107674303A= | CA1732746187 | SLC26A4 | c.555A= (p.Arg185=) | |
| 7 | g.107674303A>C | CA368848306 | SLC26A4 | c.555A>C (p.Arg185Ser) | |
| 7 | g.107674303A>G | CA457105444 | SLC26A4 | c.555A>G (p.Arg185=) | |
| 7 | g.107674303A>T | CA368848307 | SLC26A4 | c.555A>T (p.Arg185Ser) | dbSNP |
| 7 | g.107674304G>A | CA368848310 | SLC26A4 | c.556G>A (p.Val186Ile) | |
| 7 | g.107674304G>C | CA368848311 | SLC26A4 | c.556G>C (p.Val186Leu) | |
| 7 | g.107674304G= | CA1732746190 | SLC26A4 | c.556G= (p.Val186=) | |
| 7 | g.107674304G>T | CA4432505 | SLC26A4 | c.556G>T (p.Val186Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674305T>A | CA368848313 | SLC26A4 | c.557T>A (p.Val186Asp) | |
| 7 | g.107674305T>C | CA368848315 | SLC26A4 | c.557T>C (p.Val186Ala) | |
| 7 | g.107674305T>G | CA368848316 | SLC26A4 | c.557T>G (p.Val186Gly) | |
| 7 | g.107674306C>A | CA457105451 | SLC26A4 | c.558C>A (p.Val186=) | |
| 7 | g.107674306C>G | CA457105453 | SLC26A4 | c.558C>G (p.Val186=) | |
| 7 | g.107674306C>T | CA457105455 | SLC26A4 | c.558C>T (p.Val186=) | |
| 7 | g.107674307C>A | CA368848317 | SLC26A4 | c.559C>A (p.Leu187Met) | |
| 7 | g.107674307C>G | CA368848319 | SLC26A4 | c.559C>G (p.Leu187Val) | |
| 7 | g.107674307C>T | CA457105457 | SLC26A4 | c.559C>T (p.Leu187=) | |
| 7 | g.107674308T>A | CA368848321 | SLC26A4 | c.560T>A (p.Leu187Gln) | |
| 7 | g.107674308T>C | CA368848324 | SLC26A4 | c.560T>C (p.Leu187Pro) | |
| 7 | g.107674308T>G | CA368848323 | SLC26A4 | c.560T>G (p.Leu187Arg) | gnomAD v4 |
| 7 | g.107674309G>A | CA457105461 | SLC26A4 | c.561G>A (p.Leu187=) | |
| 7 | g.107674309G>C | CA457105464 | SLC26A4 | c.561G>C (p.Leu187=) | gnomAD v4 |
| 7 | g.107674309G= | CA1732746198 | SLC26A4 | c.561G= (p.Leu187=) | |
| 7 | g.107674309G>T | CA4432506 | SLC26A4 | c.561G>T (p.Leu187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674310del | CA2684461736 | SLC26A4 | c.562del (p.Ile188LeufsTer5) | gnomAD v4 |
| 7 | g.107674310A= | CA1732746202 | SLC26A4 | c.562A= (p.Ile188=) | |
| 7 | g.107674310A>C | CA368848328 | SLC26A4 | c.562A>C (p.Ile188Leu) | |
| 7 | g.107674310A>G | CA4432507 | SLC26A4 | c.562A>G (p.Ile188Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674310A>T | CA368848330 | SLC26A4 | c.562A>T (p.Ile188Phe) | |
| 7 | g.107674311T>A | CA368848332 | SLC26A4 | c.563T>A (p.Ile188Asn) | |
| 7 | g.107674311T>C | CA368848334 | SLC26A4 | c.563T>C (p.Ile188Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674311T>G | CA368848336 | SLC26A4 | c.563T>G (p.Ile188Ser) | |
| 7 | g.107674311T= | CA1732746207 | SLC26A4 | c.563T= (p.Ile188=) | |
| 7 | g.107674312dup | CA2684461743 | SLC26A4 | c.564dup (p.Ala189CysfsTer?) | gnomAD v4 |
| 7 | g.107674312T>A | CA457105471 | SLC26A4 | c.564T>A (p.Ile188=) | |
| 7 | g.107674312T>C | CA457105472 | SLC26A4 | c.564T>C (p.Ile188=) | |
| 7 | g.107674312T>G | CA368848337 | SLC26A4 | c.564T>G (p.Ile188Met) | |
| 7 | g.107674313G>A | CA4432508 | SLC26A4 | c.565G>A (p.Ala189Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674313G>C | CA368848342 | SLC26A4 | c.565G>C (p.Ala189Pro) | |
| 7 | g.107674313G= | CA1732746217 | SLC26A4 | c.565G= (p.Ala189=) | |
| 7 | g.107674313G>T | CA132732 | SLC26A4 | c.565G>T (p.Ala189Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674313_107674314delinsGC | CA1732746219 | SLC26A4 | c.565_566delinsGC (p.Ala189=) | |
| 7 | g.107674314C>A | CA368848349 | SLC26A4 | c.566C>A (p.Ala189Asp) | |
| 7 | g.107674314C= | CA1732746225 | SLC26A4 | c.566C= (p.Ala189=) | |
| 7 | g.107674314C>G | CA368848347 | SLC26A4 | c.566C>G (p.Ala189Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674314C>T | CA368848346 | SLC26A4 | c.566C>T (p.Ala189Val) | |
| 7 | g.107674315del | CA1105627796 | SLC26A4 | c.567del (p.Ser190ValfsTer3) | ClinVar dbSNP |
| 7 | g.107674315C>A | CA457105481 | SLC26A4 | c.567C>A (p.Ala189=) | |
| 7 | g.107674315C= | CA1732746229 | SLC26A4 | c.567C= (p.Ala189=) | |
| 7 | g.107674315C>G | CA457105485 | SLC26A4 | c.567C>G (p.Ala189=) | ClinVar dbSNP |
| 7 | g.107674315C>T | CA457105483 | SLC26A4 | c.567C>T (p.Ala189=) | |
| 7 | g.107674316A= | CA1732746232 | SLC26A4 | c.568A= (p.Ser190=) | |
| 7 | g.107674316A>C | CA368848353 | SLC26A4 | c.568A>C (p.Ser190Arg) | |
| 7 | g.107674316A>G | CA368848351 | SLC26A4 | c.568A>G (p.Ser190Gly) | gnomAD v4 COSMIC |
| 7 | g.107674316A>T | CA4432509 | SLC26A4 | c.568A>T (p.Ser190Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674317G>A | CA368848355 | SLC26A4 | c.569G>A (p.Ser190Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674317G>C | CA368848357 | SLC26A4 | c.569G>C (p.Ser190Thr) | |
| 7 | g.107674317G= | CA1732746234 | SLC26A4 | c.569G= (p.Ser190=) | |
| 7 | g.107674317G>T | CA368848358 | SLC26A4 | c.569G>T (p.Ser190Ile) | |
| 7 | g.107674318T>A | CA368848361 | SLC26A4 | c.570T>A (p.Ser190Arg) | |
| 7 | g.107674318T>C | CA457105493 | SLC26A4 | c.570T>C (p.Ser190=) | |
| 7 | g.107674318T>G | CA368848362 | SLC26A4 | c.570T>G (p.Ser190Arg) | |
| 7 | g.107674319G>A | CA368848364 | SLC26A4 | c.571G>A (p.Ala191Thr) | gnomAD v4 |
| 7 | g.107674319G>C | CA368848365 | SLC26A4 | c.571G>C (p.Ala191Pro) | |
| 7 | g.107674319G>T | CA368848367 | SLC26A4 | c.571G>T (p.Ala191Ser) | |
| 7 | g.107674320C>A | CA368848369 | SLC26A4 | c.572C>A (p.Ala191Asp) | |
| 7 | g.107674320C= | CA1732746241 | SLC26A4 | c.572C= (p.Ala191=) | |
| 7 | g.107674320C>G | CA368848371 | SLC26A4 | c.572C>G (p.Ala191Gly) | dbSNP |
| 7 | g.107674320C>T | CA132734 | SLC26A4 | c.572C>T (p.Ala191Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674322del | CA2695199610 | SLC26A4 | c.574del (p.Leu192Ter) | ClinVar |
| 7 | g.107674321C>A | CA457105501 | SLC26A4 | c.573C>A (p.Ala191=) | |
| 7 | g.107674321C>G | CA457105503 | SLC26A4 | c.573C>G (p.Ala191=) | gnomAD v4 |
| 7 | g.107674321C>T | CA457105505 | SLC26A4 | c.573C>T (p.Ala191=) | |
| 7 | g.107674322C>A | CA368848376 | SLC26A4 | c.574C>A (p.Leu192Met) | |
| 7 | g.107674322C= | CA1732746247 | SLC26A4 | c.574C= (p.Leu192=) | |
| 7 | g.107674322C>G | CA368848374 | SLC26A4 | c.574C>G (p.Leu192Val) | |
| 7 | g.107674322C>T | CA4432510 | SLC26A4 | c.574C>T (p.Leu192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674323T>A | CA368848378 | SLC26A4 | c.575T>A (p.Leu192Gln) | |
| 7 | g.107674323T>C | CA368848380 | SLC26A4 | c.575T>C (p.Leu192Pro) | |
| 7 | g.107674323T>G | CA368848382 | SLC26A4 | c.575T>G (p.Leu192Arg) | |
| 7 | g.107674324G>A | CA4432511 | SLC26A4 | c.576G>A (p.Leu192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674324G>C | CA457105512 | SLC26A4 | c.576G>C (p.Leu192=) | |
| 7 | g.107674324G= | CA1732746250 | SLC26A4 | c.576G= (p.Leu192=) | |
| 7 | g.107674324G>T | CA457105514 | SLC26A4 | c.576G>T (p.Leu192=) | |
| 7 | g.107674325A>C | CA368848385 | SLC26A4 | c.577A>C (p.Thr193Pro) | |
| 7 | g.107674325A>G | CA368848386 | SLC26A4 | c.577A>G (p.Thr193Ala) | |
| 7 | g.107674325A>T | CA368848387 | SLC26A4 | c.577A>T (p.Thr193Ser) | |
| 7 | g.107674326C>A | CA368848389 | SLC26A4 | c.578C>A (p.Thr193Asn) | |
| 7 | g.107674326C= | CA1732746254 | SLC26A4 | c.578C= (p.Thr193=) | |
| 7 | g.107674326C>G | CA368848391 | SLC26A4 | c.578C>G (p.Thr193Ser) | |
| 7 | g.107674326C>T | CA253310 | SLC26A4 | c.578C>T (p.Thr193Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674327T>A | CA457105521 | SLC26A4 | c.579T>A (p.Thr193=) | dbSNP |
| 7 | g.107674327T>C | CA457105523 | SLC26A4 | c.579T>C (p.Thr193=) | |
| 7 | g.107674327T>G | CA457105525 | SLC26A4 | c.579T>G (p.Thr193=) | |
| 7 | g.107674327T= | CA1732746260 | SLC26A4 | c.579T= (p.Thr193=) | |
| 7 | g.107674328C>A | CA368848393 | SLC26A4 | c.580C>A (p.Leu194Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674328C= | CA1732746265 | SLC26A4 | c.580C= (p.Leu194=) | |
| 7 | g.107674328C>G | CA368848395 | SLC26A4 | c.580C>G (p.Leu194Val) | dbSNP |
| 7 | g.107674328C>T | CA457105528 | SLC26A4 | c.580C>T (p.Leu194=) | COSMIC |
| 7 | g.107674329T>A | CA368848399 | SLC26A4 | c.581T>A (p.Leu194Gln) | |
| 7 | g.107674329T>C | CA368848401 | SLC26A4 | c.581T>C (p.Leu194Pro) | gnomAD v4 |
| 7 | g.107674329T>G | CA368848397 | SLC26A4 | c.581T>G (p.Leu194Arg) | |
| 7 | g.107674330G>A | CA457105532 | SLC26A4 | c.582G>A (p.Leu194=) | ClinVar dbSNP |
| 7 | g.107674330G>C | CA457105535 | SLC26A4 | c.582G>C (p.Leu194=) | |
| 7 | g.107674330G= | CA1732746269 | SLC26A4 | c.582G= (p.Leu194=) | |
| 7 | g.107674330G>T | CA457105534 | SLC26A4 | c.582G>T (p.Leu194=) | |
| 7 | g.107674331C>A | CA368848402 | SLC26A4 | c.583C>A (p.Leu195Met) | |
| 7 | g.107674331C>G | CA368848404 | SLC26A4 | c.583C>G (p.Leu195Val) | gnomAD v4 |
| 7 | g.107674331C>T | CA457105538 | SLC26A4 | c.583C>T (p.Leu195=) | |
| 7 | g.107674332del | CA2697557483 | SLC26A4 | c.584del (p.Leu195ArgfsTer7) | ClinVar |
| 7 | g.107674332T>A | CA368848406 | SLC26A4 | c.584T>A (p.Leu195Gln) | |
| 7 | g.107674332T>C | CA368848408 | SLC26A4 | c.584T>C (p.Leu195Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674332T>G | CA368848410 | SLC26A4 | c.584T>G (p.Leu195Arg) | |
| 7 | g.107674332T= | CA1732746273 | SLC26A4 | c.584T= (p.Leu195=) |