Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107779672T>A | CA144055 | SLC26A3 | c.1403A>T (p.Asp468Val) c.*1194A>T (n.*1194A>T) | ClinVar dbSNP |
7 | g.107779672T>C | CA368851323 | SLC26A3 | c.1403A>G (p.Asp468Gly) c.*1194A>G (n.*1194A>G) | gnomAD v4 |
7 | g.107779672T>G | CA368851324 | SLC26A3 | c.1403A>C (p.Asp468Ala) c.*1194A>C (n.*1194A>C) | |
7 | g.107779672T= | CA1732787480 | SLC26A3 | c.1403A= (p.Asp468=) c.*1194A= (n.*1194A=) | |
7 | g.107779673C>A | CA368851325 | SLC26A3 | c.1402G>T (p.Asp468Tyr) c.*1193G>T (n.*1193G>T) | gnomAD v4 |
7 | g.107779673C= | CA1732787489 | SLC26A3 | c.1402G= (p.Asp468=) c.*1193G= (n.*1193G=) | |
7 | g.107779673C>G | CA368851326 | SLC26A3 | c.1402G>C (p.Asp468His) c.*1193G>C (n.*1193G>C) | |
7 | g.107779673C>T | CA10627955 | SLC26A3 | c.1402G>A (p.Asp468Asn) c.*1193G>A (n.*1193G>A) | ClinVar dbSNP |
7 | g.107779673_107779675delinsCAT | CA1732787485 | SLC26A3 | c.1400_1402delinsATG (p.Tyr467=) c.*1191_*1193delinsATG (n.*1191_*1193delinsATG) | |
7 | g.107779674A= | CA1732787493 | SLC26A3 | c.1401T= (p.Tyr467=) c.*1192T= (n.*1192T=) | |
7 | g.107779674A>C | CA368851327 | SLC26A3 | c.1401T>G (p.Tyr467Ter) c.*1192T>G (n.*1192T>G) | |
7 | g.107779674A>G | CA457107548 | SLC26A3 | c.1401T>C (p.Tyr467=) c.*1192T>C (n.*1192T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107779674A>T | CA368851328 | SLC26A3 | c.1401T>A (p.Tyr467Ter) c.*1192T>A (n.*1192T>A) | |
7 | g.107779676_107779677del | CA4433845 | SLC26A3 | c.1400_1401del (p.Tyr467Ter) c.*1191_*1192del (n.*1191_*1192del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107779675T>A | CA368851329 | SLC26A3 | c.1400A>T (p.Tyr467Phe) c.*1191A>T (n.*1191A>T) | gnomAD v4 |
7 | g.107779675T>C | CA164238424 | SLC26A3 | c.1400A>G (p.Tyr467Cys) c.*1191A>G (n.*1191A>G) | dbSNP |
7 | g.107779675T>G | CA368851330 | SLC26A3 | c.1400A>C (p.Tyr467Ser) c.*1191A>C (n.*1191A>C) | gnomAD v4 |
7 | g.107779675T= | CA1732787495 | SLC26A3 | c.1400A= (p.Tyr467=) c.*1191A= (n.*1191A=) | |
7 | g.107779676A>C | CA368851331 | SLC26A3 | c.1399T>G (p.Tyr467Asp) c.*1190T>G (n.*1190T>G) | |
7 | g.107779676A>G | CA368851333 | SLC26A3 | c.1399T>C (p.Tyr467His) c.*1190T>C (n.*1190T>C) | |
7 | g.107779676A>T | CA368851332 | SLC26A3 | c.1399T>A (p.Tyr467Asn) c.*1190T>A (n.*1190T>A) | |
7 | g.107779677T>A | CA368851334 | SLC26A3 | c.1398A>T (p.Lys466Asn) c.*1189A>T (n.*1189A>T) | |
7 | g.107779677T>C | CA457107549 | SLC26A3 | c.1398A>G (p.Lys466=) c.*1189A>G (n.*1189A>G) | |
7 | g.107779677T>G | CA368851335 | SLC26A3 | c.1398A>C (p.Lys466Asn) c.*1189A>C (n.*1189A>C) | |
7 | g.107779678T>A | CA368851337 | SLC26A3 | c.1397A>T (p.Lys466Ile) c.*1188A>T (n.*1188A>T) | |
7 | g.107779678T>C | CA368851339 | SLC26A3 | c.1397A>G (p.Lys466Arg) c.*1188A>G (n.*1188A>G) | |
7 | g.107779678T>G | CA368851340 | SLC26A3 | c.1397A>C (p.Lys466Thr) c.*1188A>C (n.*1188A>C) | |
7 | g.107779679T>A | CA368851341 | SLC26A3 | c.1396A>T (p.Lys466Ter) c.*1187A>T (n.*1187A>T) | |
7 | g.107779679T>C | CA368851342 | SLC26A3 | c.1396A>G (p.Lys466Glu) c.*1187A>G (n.*1187A>G) | |
7 | g.107779679T>G | CA368851343 | SLC26A3 | c.1396A>C (p.Lys466Gln) c.*1187A>C (n.*1187A>C) | |
7 | g.107779680G>A | CA457107550 | SLC26A3 | c.1395C>T (p.Asp465=) c.*1186C>T (n.*1186C>T) | |
7 | g.107779680G>C | CA368851344 | SLC26A3 | c.1395C>G (p.Asp465Glu) c.*1186C>G (n.*1186C>G) | |
7 | g.107779680G>T | CA368851345 | SLC26A3 | c.1395C>A (p.Asp465Glu) c.*1186C>A (n.*1186C>A) | |
7 | g.107779681T>A | CA368851347 | SLC26A3 | c.1394A>T (p.Asp465Val) c.*1185A>T (n.*1185A>T) | |
7 | g.107779681T>C | CA368851348 | SLC26A3 | c.1394A>G (p.Asp465Gly) c.*1185A>G (n.*1185A>G) | |
7 | g.107779681T>G | CA368851346 | SLC26A3 | c.1394A>C (p.Asp465Ala) c.*1185A>C (n.*1185A>C) | |
7 | g.107779682C>A | CA368851349 | SLC26A3 | c.1393G>T (p.Asp465Tyr) c.*1184G>T (n.*1184G>T) | |
7 | g.107779682C= | CA1732787498 | SLC26A3 | c.1393G= (p.Asp465=) c.*1184G= (n.*1184G=) | |
7 | g.107779682C>G | CA368851350 | SLC26A3 | c.1393G>C (p.Asp465His) c.*1184G>C (n.*1184G>C) | |
7 | g.107779682C>T | CA368851351 | SLC26A3 | c.1393G>A (p.Asp465Asn) c.*1184G>A (n.*1184G>A) | dbSNP gnomAD v4 |
7 | g.107779683C>A | CA368851352 | SLC26A3 | c.1392G>T (p.Lys464Asn) c.*1183G>T (n.*1183G>T) | dbSNP |
7 | g.107779683C= | CA1732787502 | SLC26A3 | c.1392G= (p.Lys464=) c.*1183G= (n.*1183G=) | |
7 | g.107779683C>G | CA368851353 | SLC26A3 | c.1392G>C (p.Lys464Asn) c.*1183G>C (n.*1183G>C) | |
7 | g.107779683C>T | CA457107551 | SLC26A3 | c.1392G>A (p.Lys464=) c.*1183G>A (n.*1183G>A) | dbSNP |
7 | g.107779684T>A | CA368851354 | SLC26A3 | c.1391A>T (p.Lys464Met) c.*1182A>T (n.*1182A>T) | |
7 | g.107779684T>C | CA4433846 | SLC26A3 | c.1391A>G (p.Lys464Arg) c.*1182A>G (n.*1182A>G) | dbSNP ExAC gnomAD v2 |
7 | g.107779684T>G | CA368851355 | SLC26A3 | c.1391A>C (p.Lys464Thr) c.*1182A>C (n.*1182A>C) | |
7 | g.107779684T= | CA1732787504 | SLC26A3 | c.1391A= (p.Lys464=) c.*1182A= (n.*1182A=) | |
7 | g.107779685T>A | CA368851356 | SLC26A3 | c.1390A>T (p.Lys464Ter) c.*1181A>T (n.*1181A>T) | |
7 | g.107779685T>C | CA368851357 | SLC26A3 | c.1390A>G (p.Lys464Glu) c.*1181A>G (n.*1181A>G) |