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.107690099C>A | CA2578988723 | SLC26A4 | c.1150-25C>A (n.1150-25C>A) | gnomAD v4 |
| 7 | g.107690099C= | CA1732748176 | SLC26A4 | c.1150-25C= (n.1150-25C=) | |
| 7 | g.107690099C>T | CA4432708 | SLC26A4 | c.1150-25C>T (n.1150-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690100G>A | CA4432709 | SLC26A4 | c.1150-24G>A (n.1150-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690100G= | CA1732748178 | SLC26A4 | c.1150-24G= (n.1150-24G=) | |
| 7 | g.107690101T>C | CA2777355061 | SLC26A4 | c.1150-23T>C (n.1150-23T>C) | |
| 7 | g.107690101T>G | CA2578988728 | SLC26A4 | c.1150-23T>G (n.1150-23T>G) | dbSNP gnomAD v4 |
| 7 | g.107690103G>A | CA2777355064 | SLC26A4 | c.1150-21G>A (n.1150-21G>A) | |
| 7 | g.107690103G>C | CA164211001 | SLC26A4 | c.1150-21G>C (n.1150-21G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690103G= | CA1732748180 | SLC26A4 | c.1150-21G= (n.1150-21G=) | |
| 7 | g.107690104T>C | CA2777355065 | SLC26A4 | c.1150-20T>C (n.1150-20T>C) | |
| 7 | g.107690105C>A | CA2684466505 | SLC26A4 | c.1150-19C>A (n.1150-19C>A) | gnomAD v4 |
| 7 | g.107690106A>G | CA2578988729 | SLC26A4 | c.1150-18A>G (n.1150-18A>G) | |
| 7 | g.107690108C>A | CA2684466507 | SLC26A4 | c.1150-16C>A (n.1150-16C>A) | gnomAD v4 |
| 7 | g.107690108C>T | CA2684466506 | SLC26A4 | c.1150-16C>T (n.1150-16C>T) | gnomAD v4 |
| 7 | g.107690109del | CA2684466508 | SLC26A4 | c.1150-15del (n.1150-15del) | gnomAD v4 |
| 7 | g.107690109C>A | CA2578988730 | SLC26A4 | c.1150-15C>A (n.1150-15C>A) | gnomAD v4 |
| 7 | g.107690110A>G | CA2684466509 | SLC26A4 | c.1150-14A>G (n.1150-14A>G) | gnomAD v4 |
| 7 | g.107690110A>T | CA2684466510 | SLC26A4 | c.1150-14A>T (n.1150-14A>T) | dbSNP gnomAD v4 |
| 7 | g.107690111G>A | CA1732748183 | SLC26A4 | c.1150-13G>A (n.1150-13G>A) | dbSNP gnomAD v4 |
| 7 | g.107690111G= | CA1732748182 | SLC26A4 | c.1150-13G= (n.1150-13G=) | |
| 7 | g.107690112T>C | CA2684466511 | SLC26A4 | c.1150-12T>C (n.1150-12T>C) | gnomAD v4 |
| 7 | g.107690113C>A | CA2578988733 | SLC26A4 | c.1150-11C>A (n.1150-11C>A) | gnomAD v4 |
| 7 | g.107690114T>C | CA2684466512 | SLC26A4 | c.1150-10T>C (n.1150-10T>C) | gnomAD v4 |
| 7 | g.107690115C>A | CA2684466513 | SLC26A4 | c.1150-9C>A (n.1150-9C>A) | gnomAD v4 |
| 7 | g.107690115C= | CA1732748186 | SLC26A4 | c.1150-9C= (n.1150-9C=) | |
| 7 | g.107690115C>G | CA1732748188 | SLC26A4 | c.1150-9C>G (n.1150-9C>G) | dbSNP |
| 7 | g.107690115C>T | CA4432710 | SLC26A4 | c.1150-9C>T (n.1150-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690116T>C | CA2684466514 | SLC26A4 | c.1150-8T>C (n.1150-8T>C) | gnomAD v4 |
| 7 | g.107690117del | CA2578988735 | SLC26A4 | c.1150-7del (n.1150-7del) | |
| 7 | g.107690117T>C | CA2684466515 | SLC26A4 | c.1150-7T>C (n.1150-7T>C) | gnomAD v4 |
| 7 | g.107690117T>G | CA2684466516 | SLC26A4 | c.1150-7T>G (n.1150-7T>G) | gnomAD v4 |
| 7 | g.107690118C>A | CA2684466517 | SLC26A4 | c.1150-6C>A (n.1150-6C>A) | gnomAD v4 |
| 7 | g.107690118C>T | CA2777355070 | SLC26A4 | c.1150-6C>T (n.1150-6C>T) | |
| 7 | g.107690119C>A | CA2684466518 | SLC26A4 | c.1150-5C>A (n.1150-5C>A) | gnomAD v4 |
| 7 | g.107690119C>T | CA2684466519 | SLC26A4 | c.1150-5C>T (n.1150-5C>T) | gnomAD v4 |
| 7 | g.107690121del | CA2684466520 | SLC26A4 | c.1150-3del (n.1150-3del) | gnomAD v4 |
| 7 | g.107690121T>C | CA1732748190 | SLC26A4 | c.1150-3T>C (n.1150-3T>C) | dbSNP |
| 7 | g.107690121T= | CA1732748189 | SLC26A4 | c.1150-3T= (n.1150-3T=) | |
| 7 | g.107690122A= | CA1732748192 | SLC26A4 | c.1150-2A= (n.1150-2A=) | |
| 7 | g.107690122A>C | CA368839066 | SLC26A4 | c.1150-2A>C (n.1150-2A>C) | |
| 7 | g.107690122A>G | CA368839068 | SLC26A4 | c.1150-2A>G (n.1150-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690122A>T | CA368839070 | SLC26A4 | c.1150-2A>T (n.1150-2A>T) | |
| 7 | g.107690123G>A | CA368839073 | SLC26A4 | c.1150-1G>A (n.1150-1G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690123G>C | CA368839074 | SLC26A4 | c.1150-1G>C (n.1150-1G>C) | ClinVar |
| 7 | g.107690123G= | CA1732748199 | SLC26A4 | c.1150-1G= (n.1150-1G=) | |
| 7 | g.107690123G>T | CA368839076 | SLC26A4 | c.1150-1G>T (n.1150-1G>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690124G>A | CA368839079 | SLC26A4 | c.1150G>A (p.Glu384Lys) | |
| 7 | g.107690124G>C | CA368839080 | SLC26A4 | c.1150G>C (p.Glu384Gln) | |
| 7 | g.107690124G>T | CA368839082 | SLC26A4 | c.1150G>T (p.Glu384Ter) | |
| 7 | g.107690125A= | CA1732748202 | SLC26A4 | c.1151A= (p.Glu384=) | |
| 7 | g.107690125A>C | CA368839085 | SLC26A4 | c.1151A>C (p.Glu384Ala) | |
| 7 | g.107690125A>G | CA261398 | SLC26A4 | c.1151A>G (p.Glu384Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690125A>T | CA368839086 | SLC26A4 | c.1151A>T (p.Glu384Val) | |
| 7 | g.107690126A>C | CA368839091 | SLC26A4 | c.1152A>C (p.Glu384Asp) | |
| 7 | g.107690126A>G | CA457090175 | SLC26A4 | c.1152A>G (p.Glu384=) | ClinVar dbSNP |
| 7 | g.107690126A>T | CA368839092 | SLC26A4 | c.1152A>T (p.Glu384Asp) | |
| 7 | g.107690127T>A | CA368839095 | SLC26A4 | c.1153T>A (p.Phe385Ile) | |
| 7 | g.107690127T>C | CA368839096 | SLC26A4 | c.1153T>C (p.Phe385Leu) | |
| 7 | g.107690127T>G | CA368839098 | SLC26A4 | c.1153T>G (p.Phe385Val) | |
| 7 | g.107690128dup | CA2580076151 | SLC26A4 | c.1154dup (p.Ile386HisfsTer?) | ClinVar |
| 7 | g.107690128del | CA2684466521 | SLC26A4 | c.1154del (p.Phe385SerfsTer?) | gnomAD v4 |
| 7 | g.107690128T>A | CA368839101 | SLC26A4 | c.1154T>A (p.Phe385Tyr) | |
| 7 | g.107690128T>C | CA368839103 | SLC26A4 | c.1154T>C (p.Phe385Ser) | |
| 7 | g.107690128T>G | CA368839105 | SLC26A4 | c.1154T>G (p.Phe385Cys) | |
| 7 | g.107690128_107690130delinsCAGCAACATCTTCTCAGGATTCTTCTC | CA2580617072 | SLC26A4 | c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu) | ClinVar |
| 7 | g.107690129C>A | CA368839108 | SLC26A4 | c.1155C>A (p.Phe385Leu) | gnomAD v4 |
| 7 | g.107690129C>G | CA368839110 | SLC26A4 | c.1155C>G (p.Phe385Leu) | |
| 7 | g.107690129C>T | CA457090196 | SLC26A4 | c.1155C>T (p.Phe385=) | ClinVar gnomAD v4 |
| 7 | g.107690130A= | CA1732748205 | SLC26A4 | c.1156A= (p.Ile386=) | |
| 7 | g.107690130A>C | CA368839113 | SLC26A4 | c.1156A>C (p.Ile386Leu) | |
| 7 | g.107690130A>G | CA4432711 | SLC26A4 | c.1156A>G (p.Ile386Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690130A>T | CA368839112 | SLC26A4 | c.1156A>T (p.Ile386Phe) | |
| 7 | g.107690131T>A | CA368839117 | SLC26A4 | c.1157T>A (p.Ile386Asn) | |
| 7 | g.107690131T>C | CA368839118 | SLC26A4 | c.1157T>C (p.Ile386Thr) | |
| 7 | g.107690131T>G | CA368839120 | SLC26A4 | c.1157T>G (p.Ile386Ser) | |
| 7 | g.107690132T>A | CA457090207 | SLC26A4 | c.1158T>A (p.Ile386=) | |
| 7 | g.107690132T>C | CA457090205 | SLC26A4 | c.1158T>C (p.Ile386=) | |
| 7 | g.107690132T>G | CA368839122 | SLC26A4 | c.1158T>G (p.Ile386Met) | |
| 7 | g.107690133G>A | CA368839123 | SLC26A4 | c.1159G>A (p.Ala387Thr) | |
| 7 | g.107690133G>C | CA368839127 | SLC26A4 | c.1159G>C (p.Ala387Pro) | |
| 7 | g.107690133G>T | CA368839129 | SLC26A4 | c.1159G>T (p.Ala387Ser) | ClinVar |
| 7 | g.107690134C>A | CA4432712 | SLC26A4 | c.1160C>A (p.Ala387Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107690134C= | CA1732748209 | SLC26A4 | c.1160C= (p.Ala387=) | |
| 7 | g.107690134C>G | CA368839130 | SLC26A4 | c.1160C>G (p.Ala387Gly) | |
| 7 | g.107690134C>T | CA4432713 | SLC26A4 | c.1160C>T (p.Ala387Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690135C>A | CA457090231 | SLC26A4 | c.1161C>A (p.Ala387=) | gnomAD v4 |
| 7 | g.107690135C= | CA1732748214 | SLC26A4 | c.1161C= (p.Ala387=) | |
| 7 | g.107690135C>G | CA457090229 | SLC26A4 | c.1161C>G (p.Ala387=) | |
| 7 | g.107690135C>T | CA457090221 | SLC26A4 | c.1161C>T (p.Ala387=) | |
| 7 | g.107690136T>A | CA368839131 | SLC26A4 | c.1162T>A (p.Phe388Ile) | |
| 7 | g.107690136T>C | CA368839132 | SLC26A4 | c.1162T>C (p.Phe388Leu) | |
| 7 | g.107690136T>G | CA368839133 | SLC26A4 | c.1162T>G (p.Phe388Val) | |
| 7 | g.107690138dup | CA645372448 | SLC26A4 | c.1164dup (p.Gly389TrpfsTer?) | ClinVar dbSNP |
| 7 | g.107690137T>A | CA368839136 | SLC26A4 | c.1163T>A (p.Phe388Tyr) | |
| 7 | g.107690137T>C | CA368839135 | SLC26A4 | c.1163T>C (p.Phe388Ser) | |
| 7 | g.107690137T>G | CA368839134 | SLC26A4 | c.1163T>G (p.Phe388Cys) | |
| 7 | g.107690138T>A | CA368839137 | SLC26A4 | c.1164T>A (p.Phe388Leu) | |
| 7 | g.107690138T>C | CA457090257 | SLC26A4 | c.1164T>C (p.Phe388=) | |
| 7 | g.107690138T>G | CA368839138 | SLC26A4 | c.1164T>G (p.Phe388Leu) | |
| 7 | g.107690139G>A | CA368839139 | SLC26A4 | c.1165G>A (p.Gly389Arg) | dbSNP gnomAD v4 COSMIC |
| 7 | g.107690139G>C | CA368839140 | SLC26A4 | c.1165G>C (p.Gly389Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690139G= | CA1732748223 | SLC26A4 | c.1165G= (p.Gly389=) | |
| 7 | g.107690139G>T | CA368839141 | SLC26A4 | c.1165G>T (p.Gly389Trp) | dbSNP gnomAD v4 |
| 7 | g.107690140G>A | CA368839142 | SLC26A4 | c.1166G>A (p.Gly389Glu) | |
| 7 | g.107690140G>C | CA368839143 | SLC26A4 | c.1166G>C (p.Gly389Ala) | |
| 7 | g.107690140G>T | CA368839144 | SLC26A4 | c.1166G>T (p.Gly389Val) | |
| 7 | g.107690141G>A | CA457090281 | SLC26A4 | c.1167G>A (p.Gly389=) | dbSNP |
| 7 | g.107690141G>C | CA457090283 | SLC26A4 | c.1167G>C (p.Gly389=) | gnomAD v4 |
| 7 | g.107690141G= | CA1732748227 | SLC26A4 | c.1167G= (p.Gly389=) | |
| 7 | g.107690141G>T | CA457090288 | SLC26A4 | c.1167G>T (p.Gly389=) | |
| 7 | g.107690142A>C | CA368839145 | SLC26A4 | c.1168A>C (p.Ile390Leu) | |
| 7 | g.107690142A>G | CA368839146 | SLC26A4 | c.1168A>G (p.Ile390Val) | |
| 7 | g.107690142A>T | CA368839147 | SLC26A4 | c.1168A>T (p.Ile390Phe) | |
| 7 | g.107690143T>A | CA368839148 | SLC26A4 | c.1169T>A (p.Ile390Asn) | dbSNP |
| 7 | g.107690143T>C | CA368839149 | SLC26A4 | c.1169T>C (p.Ile390Thr) | |
| 7 | g.107690143T>G | CA368839150 | SLC26A4 | c.1169T>G (p.Ile390Ser) | |
| 7 | g.107690143T= | CA1732748230 | SLC26A4 | c.1169T= (p.Ile390=) | |
| 7 | g.107690144C>A | CA457090313 | SLC26A4 | c.1170C>A (p.Ile390=) | |
| 7 | g.107690144C= | CA1732748233 | SLC26A4 | c.1170C= (p.Ile390=) | |
| 7 | g.107690144C>G | CA368839151 | SLC26A4 | c.1170C>G (p.Ile390Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690144C>T | CA457090318 | SLC26A4 | c.1170C>T (p.Ile390=) | COSMIC |
| 7 | g.107690145A= | CA1732748238 | SLC26A4 | c.1171A= (p.Ser391=) | |
| 7 | g.107690145A>C | CA368839153 | SLC26A4 | c.1171A>C (p.Ser391Arg) | ClinVar dbSNP |
| 7 | g.107690145A>G | CA368839152 | SLC26A4 | c.1171A>G (p.Ser391Gly) | gnomAD v4 |
| 7 | g.107690145A>T | CA368839154 | SLC26A4 | c.1171A>T (p.Ser391Cys) | |
| 7 | g.107690146G>A | CA368839155 | SLC26A4 | c.1172G>A (p.Ser391Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690146G>C | CA368839156 | SLC26A4 | c.1172G>C (p.Ser391Thr) | |
| 7 | g.107690146G= | CA1732748241 | SLC26A4 | c.1172G= (p.Ser391=) | |
| 7 | g.107690146G>T | CA368839157 | SLC26A4 | c.1172G>T (p.Ser391Ile) | |
| 7 | g.107690147C>A | CA16041107 | SLC26A4 | c.1173C>A (p.Ser391Arg) | ClinVar dbSNP |
| 7 | g.107690147C= | CA1732748246 | SLC26A4 | c.1173C= (p.Ser391=) | |
| 7 | g.107690147C>G | CA368839158 | SLC26A4 | c.1173C>G (p.Ser391Arg) | |
| 7 | g.107690147C>T | CA457090340 | SLC26A4 | c.1173C>T (p.Ser391=) | |
| 7 | g.107690148A= | CA1732748254 | SLC26A4 | c.1174A= (p.Asn392=) | |
| 7 | g.107690148A>C | CA368839159 | SLC26A4 | c.1174A>C (p.Asn392His) | |
| 7 | g.107690148A>G | CA368839160 | SLC26A4 | c.1174A>G (p.Asn392Asp) | |
| 7 | g.107690148A>T | CA4432714 | SLC26A4 | c.1174A>T (p.Asn392Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690149A>C | CA368839161 | SLC26A4 | c.1175A>C (p.Asn392Thr) | |
| 7 | g.107690149A>G | CA368839162 | SLC26A4 | c.1175A>G (p.Asn392Ser) | |
| 7 | g.107690149A>T | CA368839163 | SLC26A4 | c.1175A>T (p.Asn392Ile) | |
| 7 | g.107690150C>A | CA368839164 | SLC26A4 | c.1176C>A (p.Asn392Lys) | gnomAD v4 |
| 7 | g.107690150C>G | CA368839165 | SLC26A4 | c.1176C>G (p.Asn392Lys) | |
| 7 | g.107690150C>T | CA457090360 | SLC26A4 | c.1176C>T (p.Asn392=) | |
| 7 | g.107690151A= | CA1732748260 | SLC26A4 | c.1177A= (p.Ile393=) | |
| 7 | g.107690151A>C | CA368839166 | SLC26A4 | c.1177A>C (p.Ile393Leu) | gnomAD v4 |
| 7 | g.107690151A>G | CA4432716 | SLC26A4 | c.1177A>G (p.Ile393Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690151A>T | CA164211017 | SLC26A4 | c.1177A>T (p.Ile393Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690151_107690154delinsATCT | CA1732748262 | SLC26A4 | c.1177_1180delinsATCT (p.Ile393=) | |
| 7 | g.107690152T>A | CA368839167 | SLC26A4 | c.1178T>A (p.Ile393Asn) | |
| 7 | g.107690152T>C | CA368839168 | SLC26A4 | c.1178T>C (p.Ile393Thr) | gnomAD v4 |
| 7 | g.107690152T>G | CA368839169 | SLC26A4 | c.1178T>G (p.Ile393Ser) | |
| 7 | g.107690155_107690157del | CA4432715 | SLC26A4 | c.1181_1183del (p.Phe394del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690153C>A | CA457090401 | SLC26A4 | c.1179C>A (p.Ile393=) | gnomAD v4 |
| 7 | g.107690153C>G | CA368839170 | SLC26A4 | c.1179C>G (p.Ile393Met) | |
| 7 | g.107690153C>T | CA457090403 | SLC26A4 | c.1179C>T (p.Ile393=) | |
| 7 | g.107690154T>A | CA368839171 | SLC26A4 | c.1180T>A (p.Phe394Ile) | |
| 7 | g.107690154T>C | CA368839172 | SLC26A4 | c.1180T>C (p.Phe394Leu) | |
| 7 | g.107690154T>G | CA368839173 | SLC26A4 | c.1180T>G (p.Phe394Val) | |
| 7 | g.107690155del | CA2739278395 | SLC26A4 | c.1181del (p.Phe394SerfsTer?) | ClinVar |
| 7 | g.107690155T>A | CA368839174 | SLC26A4 | c.1181T>A (p.Phe394Tyr) | |
| 7 | g.107690155T>C | CA368839175 | SLC26A4 | c.1181T>C (p.Phe394Ser) | |
| 7 | g.107690155T>G | CA368839176 | SLC26A4 | c.1181T>G (p.Phe394Cys) | |
| 7 | g.107690156C>A | CA368839177 | SLC26A4 | c.1182C>A (p.Phe394Leu) | |
| 7 | g.107690156C>G | CA368839178 | SLC26A4 | c.1182C>G (p.Phe394Leu) | |
| 7 | g.107690156C>T | CA457090429 | SLC26A4 | c.1182C>T (p.Phe394=) | |
| 7 | g.107690157T>A | CA368839179 | SLC26A4 | c.1183T>A (p.Ser395Thr) | |
| 7 | g.107690157T>C | CA368839180 | SLC26A4 | c.1183T>C (p.Ser395Pro) | gnomAD v4 |
| 7 | g.107690157T>G | CA368839181 | SLC26A4 | c.1183T>G (p.Ser395Ala) | |
| 7 | g.107690158C>A | CA368839182 | SLC26A4 | c.1184C>A (p.Ser395Ter) | |
| 7 | g.107690158C>G | CA368839183 | SLC26A4 | c.1184C>G (p.Ser395Ter) | |
| 7 | g.107690158C>T | CA368839184 | SLC26A4 | c.1184C>T (p.Ser395Leu) | |
| 7 | g.107690159A>C | CA457090457 | SLC26A4 | c.1185A>C (p.Ser395=) | ClinVar gnomAD v4 |
| 7 | g.107690159A>G | CA457090471 | SLC26A4 | c.1185A>G (p.Ser395=) | gnomAD v4 |
| 7 | g.107690159A>T | CA457090460 | SLC26A4 | c.1185A>T (p.Ser395=) | |
| 7 | g.107690160G>A | CA368839185 | SLC26A4 | c.1186G>A (p.Gly396Arg) | |
| 7 | g.107690160G>C | CA368839186 | SLC26A4 | c.1186G>C (p.Gly396Arg) | |
| 7 | g.107690160G>T | CA368839187 | SLC26A4 | c.1186G>T (p.Gly396Ter) | |
| 7 | g.107690161G>A | CA368839188 | SLC26A4 | c.1187G>A (p.Gly396Glu) | |
| 7 | g.107690161G>C | CA368839189 | SLC26A4 | c.1187G>C (p.Gly396Ala) | |
| 7 | g.107690161G>T | CA368839190 | SLC26A4 | c.1187G>T (p.Gly396Val) | COSMIC |
| 7 | g.107690162A= | CA1732748272 | SLC26A4 | c.1188A= (p.Gly396=) | |
| 7 | g.107690162A>C | CA457090490 | SLC26A4 | c.1188A>C (p.Gly396=) | |
| 7 | g.107690162A>G | CA457090493 | SLC26A4 | c.1188A>G (p.Gly396=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690162A>T | CA457090495 | SLC26A4 | c.1188A>T (p.Gly396=) | |
| 7 | g.107690163T>A | CA368839192 | SLC26A4 | c.1189T>A (p.Phe397Ile) | |
| 7 | g.107690163T>C | CA368839193 | SLC26A4 | c.1189T>C (p.Phe397Leu) | |
| 7 | g.107690163T>G | CA368839191 | SLC26A4 | c.1189T>G (p.Phe397Val) | |
| 7 | g.107690164T>A | CA368839194 | SLC26A4 | c.1190T>A (p.Phe397Tyr) | |
| 7 | g.107690164T>C | CA368839195 | SLC26A4 | c.1190T>C (p.Phe397Ser) | |
| 7 | g.107690164T>G | CA368839196 | SLC26A4 | c.1190T>G (p.Phe397Cys) | |
| 7 | g.107690168_107690172del | CA2499218633 | SLC26A4 | c.1194_1198del (p.Phe398LeufsTer?) | ClinVar dbSNP |
| 7 | g.107690165del | CA2580076155 | SLC26A4 | c.1191del (p.Phe398SerfsTer?) | ClinVar |
| 7 | g.107690165C>A | CA368839197 | SLC26A4 | c.1191C>A (p.Phe397Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690165C= | CA1732748275 | SLC26A4 | c.1191C= (p.Phe397=) | |
| 7 | g.107690165C>G | CA368839198 | SLC26A4 | c.1191C>G (p.Phe397Leu) | |
| 7 | g.107690165C>T | CA457090527 | SLC26A4 | c.1191C>T (p.Phe397=) | |
| 7 | g.107690166T>A | CA368839201 | SLC26A4 | c.1192T>A (p.Phe398Ile) | |
| 7 | g.107690166T>C | CA368839199 | SLC26A4 | c.1192T>C (p.Phe398Leu) | |
| 7 | g.107690166T>G | CA368839200 | SLC26A4 | c.1192T>G (p.Phe398Val) | |
| 7 | g.107690167T>A | CA368839202 | SLC26A4 | c.1193T>A (p.Phe398Tyr) | |
| 7 | g.107690167T>C | CA368839203 | SLC26A4 | c.1193T>C (p.Phe398Ser) | |
| 7 | g.107690167T>G | CA368839204 | SLC26A4 | c.1193T>G (p.Phe398Cys) | gnomAD v4 |
| 7 | g.107690168C>A | CA368839205 | SLC26A4 | c.1194C>A (p.Phe398Leu) | |
| 7 | g.107690168C= | CA1732748282 | SLC26A4 | c.1194C= (p.Phe398=) | |
| 7 | g.107690168C>G | CA368839206 | SLC26A4 | c.1194C>G (p.Phe398Leu) | |
| 7 | g.107690168C>T | CA457090542 | SLC26A4 | c.1194C>T (p.Phe398=) | ClinVar dbSNP |
| 7 | g.107690169T>A | CA368839207 | SLC26A4 | c.1195T>A (p.Ser399Thr) | |
| 7 | g.107690169T>C | CA4432717 | SLC26A4 | c.1195T>C (p.Ser399Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690169T>G | CA368839208 | SLC26A4 | c.1195T>G (p.Ser399Ala) | |
| 7 | g.107690169T= | CA1732748289 | SLC26A4 | c.1195T= (p.Ser399=) | |
| 7 | g.107690170C>A | CA368839209 | SLC26A4 | c.1196C>A (p.Ser399Tyr) | |
| 7 | g.107690170C= | CA1732748298 | SLC26A4 | c.1196C= (p.Ser399=) | |
| 7 | g.107690170C>G | CA368839210 | SLC26A4 | c.1196C>G (p.Ser399Cys) | |
| 7 | g.107690170C>T | CA4432718 | SLC26A4 | c.1196C>T (p.Ser399Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690170_107690171delinsCT | CA1732748295 | SLC26A4 | c.1196_1197delinsCT (p.Ser399=) | |
| 7 | g.107690171T>A | CA457090564 | SLC26A4 | c.1197T>A (p.Ser399=) | |
| 7 | g.107690171T>C | CA457090567 | SLC26A4 | c.1197T>C (p.Ser399=) | ClinVar dbSNP |
| 7 | g.107690171T>G | CA457090571 | SLC26A4 | c.1197T>G (p.Ser399=) | |
| 7 | g.107690171_107690172del | CA2695203120 | SLC26A4 | c.1197_1198del (p.Cys400PhefsTer?) | |
| 7 | g.107690172dup | CA2695203119 | SLC26A4 | c.1198dup (p.Cys400LeufsTer?) | |
| 7 | g.107690172del | CA261399 | SLC26A4 | c.1198del (p.Cys400ValfsTer?) c.1198del (p.Cys400ValfsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690172T>A | CA368839211 | SLC26A4 | c.1198T>A (p.Cys400Ser) | |
| 7 | g.107690172T>C | CA368839212 | SLC26A4 | c.1198T>C (p.Cys400Arg) | dbSNP |
| 7 | g.107690172T>G | CA368839213 | SLC26A4 | c.1198T>G (p.Cys400Gly) | |
| 7 | g.107690173G>A | CA368839214 | SLC26A4 | c.1199G>A (p.Cys400Tyr) | gnomAD v4 |
| 7 | g.107690173G>C | CA368839215 | SLC26A4 | c.1199G>C (p.Cys400Ser) | |
| 7 | g.107690173G>T | CA368839216 | SLC26A4 | c.1199G>T (p.Cys400Phe) | |
| 7 | g.107690173_107690174delinsGT | CA1732748309 | SLC26A4 | c.1199_1200delinsGT (p.Cys400=) | |
| 7 | g.107690174T>A | CA368839217 | SLC26A4 | c.1200T>A (p.Cys400Ter) | |
| 7 | g.107690174T>C | CA457090580 | SLC26A4 | c.1200T>C (p.Cys400=) | |
| 7 | g.107690174T>G | CA368839218 | SLC26A4 | c.1200T>G (p.Cys400Trp) | |
| 7 | g.107690177del | CA1732748312 | SLC26A4 | c.1203del (p.Phe401LeufsTer?) c.1203del (p.Phe401LeufsTer28) | dbSNP |
| 7 | g.107690175T>A | CA368839221 | SLC26A4 | c.1201T>A (p.Phe401Ile) | |
| 7 | g.107690175T>C | CA368839220 | SLC26A4 | c.1201T>C (p.Phe401Leu) | |
| 7 | g.107690175T>G | CA368839219 | SLC26A4 | c.1201T>G (p.Phe401Val) | |
| 7 | g.107690176T>A | CA368839222 | SLC26A4 | c.1202T>A (p.Phe401Tyr) | |
| 7 | g.107690176T>C | CA4432719 | SLC26A4 | c.1202T>C (p.Phe401Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690176T>G | CA368839223 | SLC26A4 | c.1202T>G (p.Phe401Cys) | |
| 7 | g.107690176T= | CA1732748315 | SLC26A4 | c.1202T= (p.Phe401=) | |
| 7 | g.107690177T>A | CA368839224 | SLC26A4 | c.1203T>A (p.Phe401Leu) | |
| 7 | g.107690177T>C | CA457090608 | SLC26A4 | c.1203T>C (p.Phe401=) | gnomAD v4 |
| 7 | g.107690177T>G | CA368839225 | SLC26A4 | c.1203T>G (p.Phe401Leu) | |
| 7 | g.107690178G>A | CA261400 | SLC26A4 | c.1204G>A (p.Val402Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690178G>C | CA368839226 | SLC26A4 | c.1204G>C (p.Val402Leu) | |
| 7 | g.107690178G= | CA1732748321 | SLC26A4 | c.1204G= (p.Val402=) | |
| 7 | g.107690178G>T | CA368839227 | SLC26A4 | c.1204G>T (p.Val402Leu) | |
| 7 | g.107690179T>A | CA368839228 | SLC26A4 | c.1205T>A (p.Val402Glu) | |
| 7 | g.107690179T>C | CA368839229 | SLC26A4 | c.1205T>C (p.Val402Ala) | gnomAD v4 |
| 7 | g.107690179T>G | CA368839230 | SLC26A4 | c.1205T>G (p.Val402Gly) | |
| 7 | g.107690180G>A | CA164211034 | SLC26A4 | c.1206G>A (p.Val402=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690180G>C | CA457090637 | SLC26A4 | c.1206G>C (p.Val402=) | |
| 7 | g.107690180G= | CA1732748325 | SLC26A4 | c.1206G= (p.Val402=) | |
| 7 | g.107690180G>T | CA457090635 | SLC26A4 | c.1206G>T (p.Val402=) | ClinVar |
| 7 | g.107690181G>A | CA368839231 | SLC26A4 | c.1207G>A (p.Ala403Thr) | |
| 7 | g.107690181G>C | CA368839232 | SLC26A4 | c.1207G>C (p.Ala403Pro) | |
| 7 | g.107690181G= | CA1732748330 | SLC26A4 | c.1207G= (p.Ala403=) | |
| 7 | g.107690181G>T | CA368839233 | SLC26A4 | c.1207G>T (p.Ala403Ser) | dbSNP gnomAD v4 |
| 7 | g.107690182C>A | CA368839236 | SLC26A4 | c.1208C>A (p.Ala403Asp) | gnomAD v4 |
| 7 | g.107690182C>G | CA368839235 | SLC26A4 | c.1208C>G (p.Ala403Gly) | |
| 7 | g.107690182C>T | CA368839234 | SLC26A4 | c.1208C>T (p.Ala403Val) | |
| 7 | g.107690183C>A | CA457090656 | SLC26A4 | c.1209C>A (p.Ala403=) | |
| 7 | g.107690183C= | CA1732748332 | SLC26A4 | c.1209C= (p.Ala403=) | |
| 7 | g.107690183C>G | CA457090658 | SLC26A4 | c.1209C>G (p.Ala403=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690183C>T | CA457090661 | SLC26A4 | c.1209C>T (p.Ala403=) | |
| 7 | g.107690184A>C | CA368839237 | SLC26A4 | c.1210A>C (p.Thr404Pro) | |
| 7 | g.107690184A>G | CA368839238 | SLC26A4 | c.1210A>G (p.Thr404Ala) | COSMIC |
| 7 | g.107690184A>T | CA368839239 | SLC26A4 | c.1210A>T (p.Thr404Ser) | |
| 7 | g.107690185C>A | CA368839240 | SLC26A4 | c.1211C>A (p.Thr404Asn) | |
| 7 | g.107690185C= | CA1732748335 | SLC26A4 | c.1211C= (p.Thr404=) | |
| 7 | g.107690185C>G | CA368839241 | SLC26A4 | c.1211C>G (p.Thr404Ser) | |
| 7 | g.107690185C>T | CA164211035 | SLC26A4 | c.1211C>T (p.Thr404Ile) | dbSNP gnomAD v4 |
| 7 | g.107690186C>A | CA457090684 | SLC26A4 | c.1212C>A (p.Thr404=) | ClinVar dbSNP |
| 7 | g.107690186C>G | CA457090687 | SLC26A4 | c.1212C>G (p.Thr404=) | |
| 7 | g.107690186C>T | CA457090691 | SLC26A4 | c.1212C>T (p.Thr404=) | gnomAD v4 |
| 7 | g.107690187A>C | CA368839242 | SLC26A4 | c.1213A>C (p.Thr405Pro) | gnomAD v4 |
| 7 | g.107690187A>G | CA368839243 | SLC26A4 | c.1213A>G (p.Thr405Ala) | gnomAD v4 |
| 7 | g.107690187A>T | CA368839244 | SLC26A4 | c.1213A>T (p.Thr405Ser) | |
| 7 | g.107690188C>A | CA4432720 | SLC26A4 | c.1214C>A (p.Thr405Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690188C= | CA1732748337 | SLC26A4 | c.1214C= (p.Thr405=) | |
| 7 | g.107690188C>G | CA368839245 | SLC26A4 | c.1214C>G (p.Thr405Ser) | |
| 7 | g.107690188C>T | CA368839246 | SLC26A4 | c.1214C>T (p.Thr405Ile) | |
| 7 | g.107690190_107690194del | CA2739278396 | SLC26A4 | c.1216_1220del (p.Ala406PhefsTer?) | ClinVar |
| 7 | g.107690189T>A | CA457090706 | SLC26A4 | c.1215T>A (p.Thr405=) | |
| 7 | g.107690189T>C | CA457090701 | SLC26A4 | c.1215T>C (p.Thr405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690189T>G | CA457090704 | SLC26A4 | c.1215T>G (p.Thr405=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690189T= | CA1732748340 | SLC26A4 | c.1215T= (p.Thr405=) | |
| 7 | g.107690190del | CA2684466522 | SLC26A4 | c.1216del (p.Ala406LeufsTer26) c.1216del (p.Ala406LeufsTer?) c.1216del (p.Ala406LeufsTer23) | gnomAD v4 |
| 7 | g.107690190G>A | CA368839249 | SLC26A4 | c.1216G>A (p.Ala406Thr) | |
| 7 | g.107690190G>C | CA368839248 | SLC26A4 | c.1216G>C (p.Ala406Pro) | dbSNP |
| 7 | g.107690190G= | CA1732748344 | SLC26A4 | c.1216G= (p.Ala406=) | |
| 7 | g.107690190G>T | CA368839247 | SLC26A4 | c.1216G>T (p.Ala406Ser) | |
| 7 | g.107690190_107690192delinsC | CA2695198373 | SLC26A4 | c.1216_1218delinsC (p.Ala406ProfsTer?) | ClinVar |
| 7 | g.107690191C>A | CA368839250 | SLC26A4 | c.1217C>A (p.Ala406Asp) | |
| 7 | g.107690191C>G | CA368839251 | SLC26A4 | c.1217C>G (p.Ala406Gly) | |
| 7 | g.107690191C>T | CA368839252 | SLC26A4 | c.1217C>T (p.Ala406Val) | |
| 7 | g.107690193_107690194del | CA2695203122 | SLC26A4 | c.1219_1220del (p.Leu407PhefsTer?) | |
| 7 | g.107690192T>A | CA457090723 | SLC26A4 | c.1218T>A (p.Ala406=) | |
| 7 | g.107690192T>C | CA457090734 | SLC26A4 | c.1218T>C (p.Ala406=) | dbSNP gnomAD v4 |
| 7 | g.107690192T>G | CA457090738 | SLC26A4 | c.1218T>G (p.Ala406=) | |
| 7 | g.107690192T= | CA1732748347 | SLC26A4 | c.1218T= (p.Ala406=) | |
| 7 | g.107690193C>A | CA368839253 | SLC26A4 | c.1219C>A (p.Leu407Ile) | gnomAD v4 |
| 7 | g.107690193C>G | CA368839254 | SLC26A4 | c.1219C>G (p.Leu407Val) | |
| 7 | g.107690193C>T | CA368839255 | SLC26A4 | c.1219C>T (p.Leu407Phe) | |
| 7 | g.107690193_107690194delinsCT | CA1732748350 | SLC26A4 | c.1219_1220delinsCT (p.Leu407=) | |
| 7 | g.107690194T>A | CA368839256 | SLC26A4 | c.1220T>A (p.Leu407His) | |
| 7 | g.107690194T>C | CA368839257 | SLC26A4 | c.1220T>C (p.Leu407Pro) | |
| 7 | g.107690194T>G | CA368839258 | SLC26A4 | c.1220T>G (p.Leu407Arg) | |
| 7 | g.107690196del | CA10605055 | SLC26A4 | c.1222del (p.Ser408ProfsTer24) c.1222del (p.Ser408ProfsTer?) c.1222del (p.Ser408ProfsTer21) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690195T>A | CA457090761 | SLC26A4 | c.1221T>A (p.Leu407=) | |
| 7 | g.107690195T>C | CA457090765 | SLC26A4 | c.1221T>C (p.Leu407=) | ClinVar dbSNP |
| 7 | g.107690195T>G | CA457090767 | SLC26A4 | c.1221T>G (p.Leu407=) | dbSNP |
| 7 | g.107690195T= | CA1732748356 | SLC26A4 | c.1221T= (p.Leu407=) | |
| 7 | g.107690196T>A | CA368839259 | SLC26A4 | c.1222T>A (p.Ser408Thr) | |
| 7 | g.107690196T>C | CA368839260 | SLC26A4 | c.1222T>C (p.Ser408Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690196T>G | CA368839261 | SLC26A4 | c.1222T>G (p.Ser408Ala) | |
| 7 | g.107690196T= | CA1732748359 | SLC26A4 | c.1222T= (p.Ser408=) | |
| 7 | g.107690196_107690198delinsTCC | CA1732748362 | SLC26A4 | c.1222_1224delinsTCC (p.Ser408=) | |
| 7 | g.107690197C>A | CA368839263 | SLC26A4 | c.1223C>A (p.Ser408Tyr) | |
| 7 | g.107690197C= | CA1732748367 | SLC26A4 | c.1223C= (p.Ser408=) | |
| 7 | g.107690197C>G | CA368839264 | SLC26A4 | c.1223C>G (p.Ser408Cys) | |
| 7 | g.107690197C>T | CA368839262 | SLC26A4 | c.1223C>T (p.Ser408Phe) | ClinVar dbSNP |
| 7 | g.107690198_107690199del | CA1732748366 | SLC26A4 | c.1224_1225del (p.Arg409HisfsTer?) | dbSNP |
| 7 | g.107690198C>A | CA457090792 | SLC26A4 | c.1224C>A (p.Ser408=) | |
| 7 | g.107690198C= | CA1732748371 | SLC26A4 | c.1224C= (p.Ser408=) | |
| 7 | g.107690198C>G | CA457090795 | SLC26A4 | c.1224C>G (p.Ser408=) | |
| 7 | g.107690198C>T | CA4432721 | SLC26A4 | c.1224C>T (p.Ser408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690199C>A | CA368839266 | SLC26A4 | c.1225C>A (p.Arg409Ser) | |
| 7 | g.107690199C= | CA1732748375 | SLC26A4 | c.1225C= (p.Arg409=) | |
| 7 | g.107690199C>G | CA368839265 | SLC26A4 | c.1225C>G (p.Arg409Gly) | |
| 7 | g.107690199C>T | CA4432722 | SLC26A4 | c.1225C>T (p.Arg409Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |