| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004739G>A | CA385293838 | SUOX | c.1350G>A (p.Trp450Ter) c.1371G>A (p.Trp457Ter) | |
| 12 | g.56004739G>C | CA385293848 | SUOX | c.1350G>C (p.Trp450Cys) c.1371G>C (p.Trp457Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004739G= | CA2038198013 | SUOX | c.1350G= (p.Trp450=) c.1371G= (p.Trp457=) | |
| 12 | g.56004739G>T | CA385293852 | SUOX | c.1350G>T (p.Trp450Cys) c.1371G>T (p.Trp457Cys) | |
| 12 | g.56004740A>C | CA385293854 | SUOX | c.1351A>C (p.Ser451Arg) c.1372A>C (p.Ser458Arg) | gnomAD v4 |
| 12 | g.56004740A>G | CA385293856 | SUOX | c.1351A>G (p.Ser451Gly) c.1372A>G (p.Ser458Gly) | |
| 12 | g.56004740A>T | CA385293861 | SUOX | c.1351A>T (p.Ser451Cys) c.1372A>T (p.Ser458Cys) | |
| 12 | g.56004741G>A | CA385293865 | SUOX | c.1352G>A (p.Ser451Asn) c.1373G>A (p.Ser458Asn) | |
| 12 | g.56004741G>C | CA385293868 | SUOX | c.1352G>C (p.Ser451Thr) c.1373G>C (p.Ser458Thr) | |
| 12 | g.56004741G>T | CA385293870 | SUOX | c.1352G>T (p.Ser451Ile) c.1373G>T (p.Ser458Ile) | |
| 12 | g.56004742T>A | CA385293875 | SUOX | c.1353T>A (p.Ser451Arg) c.1374T>A (p.Ser458Arg) | |
| 12 | g.56004742T>C | CA480366487 | SUOX | c.1353T>C (p.Ser451=) c.1374T>C (p.Ser458=) | |
| 12 | g.56004742T>G | CA385293883 | SUOX | c.1353T>G (p.Ser451Arg) c.1374T>G (p.Ser458Arg) | |
| 12 | g.56004743G>A | CA385293903 | SUOX | c.1354G>A (p.Gly452Ser) c.1375G>A (p.Gly459Ser) | |
| 12 | g.56004743G>C | CA385293899 | SUOX | c.1354G>C (p.Gly452Arg) c.1375G>C (p.Gly459Arg) | |
| 12 | g.56004743G>T | CA385293895 | SUOX | c.1354G>T (p.Gly452Cys) c.1375G>T (p.Gly459Cys) | |
| 12 | g.56004744G>A | CA385293914 | SUOX | c.1355G>A (p.Gly452Asp) c.1376G>A (p.Gly459Asp) | dbSNP gnomAD v2 |
| 12 | g.56004744G>C | CA385293910 | SUOX | c.1355G>C (p.Gly452Ala) c.1376G>C (p.Gly459Ala) | |
| 12 | g.56004744G= | CA2038198014 | SUOX | c.1355G= (p.Gly452=) c.1376G= (p.Gly459=) | |
| 12 | g.56004744G>T | CA385293913 | SUOX | c.1355G>T (p.Gly452Val) c.1376G>T (p.Gly459Val) | |
| 12 | g.56004745T>A | CA480366489 | SUOX | c.1356T>A (p.Gly452=) c.1377T>A (p.Gly459=) | |
| 12 | g.56004745T>C | CA480366490 | SUOX | c.1356T>C (p.Gly452=) c.1377T>C (p.Gly459=) | |
| 12 | g.56004745T>G | CA480366491 | SUOX | c.1356T>G (p.Gly452=) c.1377T>G (p.Gly459=) | dbSNP |
| 12 | g.56004745T= | CA2038198015 | SUOX | c.1356T= (p.Gly452=) c.1377T= (p.Gly459=) | |
| 12 | g.56004746G>A | CA385293915 | SUOX | c.1357G>A (p.Gly453Ser) c.1378G>A (p.Gly460Ser) | |
| 12 | g.56004746G>C | CA385293919 | SUOX | c.1357G>C (p.Gly453Arg) c.1378G>C (p.Gly460Arg) | |
| 12 | g.56004746G>T | CA385293920 | SUOX | c.1357G>T (p.Gly453Cys) c.1378G>T (p.Gly460Cys) | |
| 12 | g.56004747G>A | CA208735 | SUOX | c.1358G>A (p.Gly453Asp) c.1379G>A (p.Gly460Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004747G>C | CA385293924 | SUOX | c.1358G>C (p.Gly453Ala) c.1379G>C (p.Gly460Ala) | |
| 12 | g.56004747G= | CA2038198016 | SUOX | c.1358G= (p.Gly453=) c.1379G= (p.Gly460=) | |
| 12 | g.56004747G>T | CA385293925 | SUOX | c.1358G>T (p.Gly453Val) c.1379G>T (p.Gly460Val) | |
| 12 | g.56004748T>A | CA480366500 | SUOX | c.1359T>A (p.Gly453=) c.1380T>A (p.Gly460=) | |
| 12 | g.56004748T>C | CA480366501 | SUOX | c.1359T>C (p.Gly453=) c.1380T>C (p.Gly460=) | |
| 12 | g.56004748T>G | CA480366502 | SUOX | c.1359T>G (p.Gly453=) c.1380T>G (p.Gly460=) | dbSNP |
| 12 | g.56004748T= | CA2038198017 | SUOX | c.1359T= (p.Gly453=) c.1380T= (p.Gly460=) | |
| 12 | g.56004749G>A | CA237605336 | SUOX | c.1360G>A (p.Gly454Ser) c.1381G>A (p.Gly461Ser) | dbSNP |
| 12 | g.56004749G>C | CA385293932 | SUOX | c.1360G>C (p.Gly454Arg) c.1381G>C (p.Gly461Arg) | |
| 12 | g.56004749G= | CA2038198018 | SUOX | c.1360G= (p.Gly454=) c.1381G= (p.Gly461=) | |
| 12 | g.56004749G>T | CA385293934 | SUOX | c.1360G>T (p.Gly454Cys) c.1381G>T (p.Gly461Cys) | |
| 12 | g.56004750G>A | CA385293937 | SUOX | c.1361G>A (p.Gly454Asp) c.1382G>A (p.Gly461Asp) | gnomAD v4 |
| 12 | g.56004750G>C | CA385293938 | SUOX | c.1361G>C (p.Gly454Ala) c.1382G>C (p.Gly461Ala) | |
| 12 | g.56004750G>T | CA385293939 | SUOX | c.1361G>T (p.Gly454Val) c.1382G>T (p.Gly461Val) | |
| 12 | g.56004751C>A | CA480366508 | SUOX | c.1362C>A (p.Gly454=) c.1383C>A (p.Gly461=) | |
| 12 | g.56004751C>G | CA480366509 | SUOX | c.1362C>G (p.Gly454=) c.1383C>G (p.Gly461=) | |
| 12 | g.56004751C>T | CA480366510 | SUOX | c.1362C>T (p.Gly454=) c.1383C>T (p.Gly461=) | |
| 12 | g.56004752A>C | CA480366512 | SUOX | c.1363A>C (p.Arg455=) c.1384A>C (p.Arg462=) | |
| 12 | g.56004752A>G | CA385293952 | SUOX | c.1363A>G (p.Arg455Gly) c.1384A>G (p.Arg462Gly) | gnomAD v4 |
| 12 | g.56004752A>T | CA385293950 | SUOX | c.1363A>T (p.Arg455Trp) c.1384A>T (p.Arg462Trp) | |
| 12 | g.56004753G>A | CA385293971 | SUOX | c.1364G>A (p.Arg455Lys) c.1385G>A (p.Arg462Lys) | |
| 12 | g.56004753G>C | CA385293975 | SUOX | c.1364G>C (p.Arg455Thr) c.1385G>C (p.Arg462Thr) | |
| 12 | g.56004753G>T | CA385293978 | SUOX | c.1364G>T (p.Arg455Met) c.1385G>T (p.Arg462Met) | |
| 12 | g.56004754G>A | CA480366516 | SUOX | c.1365G>A (p.Arg455=) c.1386G>A (p.Arg462=) | |
| 12 | g.56004754G>C | CA385293995 | SUOX | c.1365G>C (p.Arg455Ser) c.1386G>C (p.Arg462Ser) | |
| 12 | g.56004754G>T | CA385294004 | SUOX | c.1365G>T (p.Arg455Ser) c.1386G>T (p.Arg462Ser) | |
| 12 | g.56004755G>A | CA385294011 | SUOX | c.1366G>A (p.Ala456Thr) c.1387G>A (p.Ala463Thr) | |
| 12 | g.56004755G>C | CA385294010 | SUOX | c.1366G>C (p.Ala456Pro) c.1387G>C (p.Ala463Pro) | |
| 12 | g.56004755G>T | CA385294009 | SUOX | c.1366G>T (p.Ala456Ser) c.1387G>T (p.Ala463Ser) | |
| 12 | g.56004756C>A | CA385294016 | SUOX | c.1367C>A (p.Ala456Asp) c.1388C>A (p.Ala463Asp) | |
| 12 | g.56004756C>G | CA385294031 | SUOX | c.1367C>G (p.Ala456Gly) c.1388C>G (p.Ala463Gly) | |
| 12 | g.56004756C>T | CA385294032 | SUOX | c.1367C>T (p.Ala456Val) c.1388C>T (p.Ala463Val) | |
| 12 | g.56004757T>A | CA480366525 | SUOX | c.1368T>A (p.Ala456=) c.1389T>A (p.Ala463=) | |
| 12 | g.56004757T>C | CA237605337 | SUOX | c.1368T>C (p.Ala456=) c.1389T>C (p.Ala463=) | ClinVar dbSNP |
| 12 | g.56004757T>G | CA480366523 | SUOX | c.1368T>G (p.Ala456=) c.1389T>G (p.Ala463=) | |
| 12 | g.56004757T= | CA2038198019 | SUOX | c.1368T= (p.Ala456=) c.1389T= (p.Ala463=) | |
| 12 | g.56004758G>A | CA385294035 | SUOX | c.1369G>A (p.Val457Met) c.1390G>A (p.Val464Met) | |
| 12 | g.56004758G>C | CA385294040 | SUOX | c.1369G>C (p.Val457Leu) c.1390G>C (p.Val464Leu) | |
| 12 | g.56004758G>T | CA385294042 | SUOX | c.1369G>T (p.Val457Leu) c.1390G>T (p.Val464Leu) | |
| 12 | g.56004759T>A | CA385294054 | SUOX | c.1370T>A (p.Val457Glu) c.1391T>A (p.Val464Glu) | |
| 12 | g.56004759T>C | CA385294043 | SUOX | c.1370T>C (p.Val457Ala) c.1391T>C (p.Val464Ala) | |
| 12 | g.56004759T>G | CA385294050 | SUOX | c.1370T>G (p.Val457Gly) c.1391T>G (p.Val464Gly) | |
| 12 | g.56004760G>A | CA480366529 | SUOX | c.1371G>A (p.Val457=) c.1392G>A (p.Val464=) | dbSNP gnomAD v2 |
| 12 | g.56004760G>C | CA480366530 | SUOX | c.1371G>C (p.Val457=) c.1392G>C (p.Val464=) | |
| 12 | g.56004760G= | CA2038198020 | SUOX | c.1371G= (p.Val457=) c.1392G= (p.Val464=) | |
| 12 | g.56004760G>T | CA480366531 | SUOX | c.1371G>T (p.Val457=) c.1392G>T (p.Val464=) | |
| 12 | g.56004761A= | CA2038198021 | SUOX | c.1372A= (p.Ile458=) c.1393A= (p.Ile465=) | |
| 12 | g.56004761A>C | CA385294061 | SUOX | c.1372A>C (p.Ile458Leu) c.1393A>C (p.Ile465Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004761A>G | CA385294068 | SUOX | c.1372A>G (p.Ile458Val) c.1393A>G (p.Ile465Val) | |
| 12 | g.56004761A>T | CA385294072 | SUOX | c.1372A>T (p.Ile458Phe) c.1393A>T (p.Ile465Phe) | |
| 12 | g.56004762T>A | CA385294079 | SUOX | c.1373T>A (p.Ile458Asn) c.1394T>A (p.Ile465Asn) | |
| 12 | g.56004762T>C | CA385294080 | SUOX | c.1373T>C (p.Ile458Thr) c.1394T>C (p.Ile465Thr) | |
| 12 | g.56004762T>G | CA385294081 | SUOX | c.1373T>G (p.Ile458Ser) c.1394T>G (p.Ile465Ser) | |
| 12 | g.56004763C>A | CA480366533 | SUOX | c.1374C>A (p.Ile458=) c.1395C>A (p.Ile465=) | |
| 12 | g.56004763C>G | CA385294084 | SUOX | c.1374C>G (p.Ile458Met) c.1395C>G (p.Ile465Met) | |
| 12 | g.56004763C>T | CA480366535 | SUOX | c.1374C>T (p.Ile458=) c.1395C>T (p.Ile465=) | |
| 12 | g.56004764C>A | CA480366537 | SUOX | c.1375C>A (p.Arg459=) c.1396C>A (p.Arg466=) | gnomAD v4 |
| 12 | g.56004764C= | CA2038198022 | SUOX | c.1375C= (p.Arg459=) c.1396C= (p.Arg466=) | |
| 12 | g.56004764C>G | CA385294120 | SUOX | c.1375C>G (p.Arg459Gly) c.1396C>G (p.Arg466Gly) | |
| 12 | g.56004764C>T | CA385294094 | SUOX | c.1375C>T (p.Arg459Trp) c.1396C>T (p.Arg466Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004765G>A | CA6621160 | SUOX | c.1376G>A (p.Arg459Gln) c.1397G>A (p.Arg466Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004765G>C | CA385294130 | SUOX | c.1376G>C (p.Arg459Pro) c.1397G>C (p.Arg466Pro) | |
| 12 | g.56004765G= | CA2038198023 | SUOX | c.1376G= (p.Arg459=) c.1397G= (p.Arg466=) | |
| 12 | g.56004765G>T | CA385294135 | SUOX | c.1376G>T (p.Arg459Leu) c.1397G>T (p.Arg466Leu) | |
| 12 | g.56004766G>A | CA480366539 | SUOX | c.1377G>A (p.Arg459=) c.1398G>A (p.Arg466=) | ClinVar |
| 12 | g.56004766G>C | CA480366540 | SUOX | c.1377G>C (p.Arg459=) c.1398G>C (p.Arg466=) | |
| 12 | g.56004766G>T | CA480366541 | SUOX | c.1377G>T (p.Arg459=) c.1398G>T (p.Arg466=) | |
| 12 | g.56004767G>A | CA385294140 | SUOX | c.1378G>A (p.Val460Met) c.1399G>A (p.Val467Met) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004767G>C | CA385294142 | SUOX | c.1378G>C (p.Val460Leu) c.1399G>C (p.Val467Leu) | |
| 12 | g.56004767G= | CA2038198024 | SUOX | c.1378G= (p.Val460=) c.1399G= (p.Val467=) | |
| 12 | g.56004767G>T | CA385294145 | SUOX | c.1378G>T (p.Val460Leu) c.1399G>T (p.Val467Leu) | |
| 12 | g.56004768T>A | CA385294151 | SUOX | c.1379T>A (p.Val460Glu) c.1400T>A (p.Val467Glu) | |
| 12 | g.56004768T>C | CA385294170 | SUOX | c.1379T>C (p.Val460Ala) c.1400T>C (p.Val467Ala) | |
| 12 | g.56004768T>G | CA385294159 | SUOX | c.1379T>G (p.Val460Gly) c.1400T>G (p.Val467Gly) | dbSNP |
| 12 | g.56004768T= | CA2038198025 | SUOX | c.1379T= (p.Val460=) c.1400T= (p.Val467=) | |
| 12 | g.56004768dup | CA2739272083 | SUOX | c.1379dup (p.Asp461GlyfsTer14) c.1400dup (p.Asp468GlyfsTer14) | ClinVar |
| 12 | g.56004769G>A | CA480366543 | SUOX | c.1380G>A (p.Val460=) c.1401G>A (p.Val467=) | |
| 12 | g.56004769G>C | CA480366544 | SUOX | c.1380G>C (p.Val460=) c.1401G>C (p.Val467=) | |
| 12 | g.56004769G>T | CA480366545 | SUOX | c.1380G>T (p.Val460=) c.1401G>T (p.Val467=) | |
| 12 | g.56004770G>A | CA385294183 | SUOX | c.1381G>A (p.Asp461Asn) c.1402G>A (p.Asp468Asn) | |
| 12 | g.56004770G>C | CA385294184 | SUOX | c.1381G>C (p.Asp461His) c.1402G>C (p.Asp468His) | gnomAD v4 COSMIC |
| 12 | g.56004770G>T | CA385294187 | SUOX | c.1381G>T (p.Asp461Tyr) c.1402G>T (p.Asp468Tyr) | |
| 12 | g.56004771A= | CA2038198026 | SUOX | c.1382A= (p.Asp461=) c.1403A= (p.Asp468=) | |
| 12 | g.56004771A>C | CA385294201 | SUOX | c.1382A>C (p.Asp461Ala) c.1403A>C (p.Asp468Ala) | |
| 12 | g.56004771A>G | CA385294205 | SUOX | c.1382A>G (p.Asp461Gly) c.1403A>G (p.Asp468Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004771A>T | CA6621161 | SUOX | c.1382A>T (p.Asp461Val) c.1403A>T (p.Asp468Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004772T>A | CA385294212 | SUOX | c.1383T>A (p.Asp461Glu) c.1404T>A (p.Asp468Glu) | |
| 12 | g.56004772T>C | CA480366547 | SUOX | c.1383T>C (p.Asp461=) c.1404T>C (p.Asp468=) | dbSNP |
| 12 | g.56004772T>G | CA385294213 | SUOX | c.1383T>G (p.Asp461Glu) c.1404T>G (p.Asp468Glu) | |
| 12 | g.56004772T= | CA2038198027 | SUOX | c.1383T= (p.Asp461=) c.1404T= (p.Asp468=) | |
| 12 | g.56004773G>A | CA385294218 | SUOX | c.1384G>A (p.Val462Met) c.1405G>A (p.Val469Met) | |
| 12 | g.56004773G>C | CA385294221 | SUOX | c.1384G>C (p.Val462Leu) c.1405G>C (p.Val469Leu) | dbSNP |
| 12 | g.56004773G= | CA2038198028 | SUOX | c.1384G= (p.Val462=) c.1405G= (p.Val469=) | |
| 12 | g.56004773G>T | CA385294235 | SUOX | c.1384G>T (p.Val462Leu) c.1405G>T (p.Val469Leu) | |
| 12 | g.56004774T>A | CA385294245 | SUOX | c.1385T>A (p.Val462Glu) c.1406T>A (p.Val469Glu) | |
| 12 | g.56004774T>C | CA385294259 | SUOX | c.1385T>C (p.Val462Ala) c.1406T>C (p.Val469Ala) | gnomAD v4 |
| 12 | g.56004774T>G | CA385294248 | SUOX | c.1385T>G (p.Val462Gly) c.1406T>G (p.Val469Gly) | |
| 12 | g.56004775G>A | CA480366549 | SUOX | c.1386G>A (p.Val462=) c.1407G>A (p.Val469=) | gnomAD v4 |
| 12 | g.56004775G>C | CA480366550 | SUOX | c.1386G>C (p.Val462=) c.1407G>C (p.Val469=) | |
| 12 | g.56004775G>T | CA480366551 | SUOX | c.1386G>T (p.Val462=) c.1407G>T (p.Val469=) | |
| 12 | g.56004775_56004777delinsGTC | CA2038198029 | SUOX | c.1386_1388delinsGTC (p.Val462=) c.1407_1409delinsGTC (p.Val469=) | |
| 12 | g.56004776T>A | CA385294265 | SUOX | c.1387T>A (p.Ser463Thr) c.1408T>A (p.Ser470Thr) | |
| 12 | g.56004776T>C | CA385294277 | SUOX | c.1387T>C (p.Ser463Pro) c.1408T>C (p.Ser470Pro) | dbSNP |
| 12 | g.56004776T>G | CA385294269 | SUOX | c.1387T>G (p.Ser463Ala) c.1408T>G (p.Ser470Ala) | |
| 12 | g.56004776T= | CA2038198030 | SUOX | c.1387T= (p.Ser463=) c.1408T= (p.Ser470=) | |
| 12 | g.56004779_56004780del | CA915948433 | SUOX | c.1390_1391del (p.Leu464GlyfsTer10) c.1411_1412del (p.Leu471GlyfsTer10) | ClinVar dbSNP |
| 12 | g.56004777C>A | CA385294286 | SUOX | c.1388C>A (p.Ser463Tyr) c.1409C>A (p.Ser470Tyr) | |
| 12 | g.56004777C= | CA2038198031 | SUOX | c.1388C= (p.Ser463=) c.1409C= (p.Ser470=) | |
| 12 | g.56004777C>G | CA385294296 | SUOX | c.1388C>G (p.Ser463Cys) c.1409C>G (p.Ser470Cys) | |
| 12 | g.56004777C>T | CA385294306 | SUOX | c.1388C>T (p.Ser463Phe) c.1409C>T (p.Ser470Phe) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004778T>A | CA480366554 | SUOX | c.1389T>A (p.Ser463=) c.1410T>A (p.Ser470=) | |
| 12 | g.56004778T>C | CA6621162 | SUOX | c.1389T>C (p.Ser463=) c.1410T>C (p.Ser470=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004778T>G | CA480366555 | SUOX | c.1389T>G (p.Ser463=) c.1410T>G (p.Ser470=) | |
| 12 | g.56004778T= | CA2038198032 | SUOX | c.1389T= (p.Ser463=) c.1410T= (p.Ser470=) | |
| 12 | g.56004779C>A | CA385294319 | SUOX | c.1390C>A (p.Leu464Met) c.1411C>A (p.Leu471Met) | |
| 12 | g.56004779C>G | CA385294327 | SUOX | c.1390C>G (p.Leu464Val) c.1411C>G (p.Leu471Val) | |
| 12 | g.56004779C>T | CA480366556 | SUOX | c.1390C>T (p.Leu464=) c.1411C>T (p.Leu471=) | |
| 12 | g.56004780T>A | CA385294342 | SUOX | c.1391T>A (p.Leu464Gln) c.1412T>A (p.Leu471Gln) | |
| 12 | g.56004780T>C | CA385294345 | SUOX | c.1391T>C (p.Leu464Pro) c.1412T>C (p.Leu471Pro) | |
| 12 | g.56004780T>G | CA385294352 | SUOX | c.1391T>G (p.Leu464Arg) c.1412T>G (p.Leu471Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004780T= | CA2038198033 | SUOX | c.1391T= (p.Leu464=) c.1412T= (p.Leu471=) | |
| 12 | g.56004781G>A | CA480366557 | SUOX | c.1392G>A (p.Leu464=) c.1413G>A (p.Leu471=) | |
| 12 | g.56004781G>C | CA480366558 | SUOX | c.1392G>C (p.Leu464=) c.1413G>C (p.Leu471=) | |
| 12 | g.56004781G>T | CA480366559 | SUOX | c.1392G>T (p.Leu464=) c.1413G>T (p.Leu471=) | gnomAD v4 |
| 12 | g.56004782G>A | CA385294357 | SUOX | c.1393G>A (p.Asp465Asn) c.1414G>A (p.Asp472Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004782G>C | CA385294361 | SUOX | c.1393G>C (p.Asp465His) c.1414G>C (p.Asp472His) | |
| 12 | g.56004782G= | CA2038198034 | SUOX | c.1393G= (p.Asp465=) c.1414G= (p.Asp472=) | |
| 12 | g.56004782G>T | CA385294367 | SUOX | c.1393G>T (p.Asp465Tyr) c.1414G>T (p.Asp472Tyr) | gnomAD v4 |
| 12 | g.56004783A>C | CA385294373 | SUOX | c.1394A>C (p.Asp465Ala) c.1415A>C (p.Asp472Ala) | |
| 12 | g.56004783A>G | CA385294371 | SUOX | c.1394A>G (p.Asp465Gly) c.1415A>G (p.Asp472Gly) | |
| 12 | g.56004783A>T | CA385294372 | SUOX | c.1394A>T (p.Asp465Val) c.1415A>T (p.Asp472Val) | |
| 12 | g.56004784T>A | CA385294377 | SUOX | c.1395T>A (p.Asp465Glu) c.1416T>A (p.Asp472Glu) | |
| 12 | g.56004784T>C | CA480366562 | SUOX | c.1395T>C (p.Asp465=) c.1416T>C (p.Asp472=) | |
| 12 | g.56004784T>G | CA385294379 | SUOX | c.1395T>G (p.Asp465Glu) c.1416T>G (p.Asp472Glu) | |
| 12 | g.56004785G>A | CA385294385 | SUOX | c.1396G>A (p.Gly466Arg) c.1417G>A (p.Gly473Arg) | gnomAD v4 |
| 12 | g.56004785G>C | CA385294394 | SUOX | c.1396G>C (p.Gly466Arg) c.1417G>C (p.Gly473Arg) | |
| 12 | g.56004785G>T | CA385294404 | SUOX | c.1396G>T (p.Gly466Trp) c.1417G>T (p.Gly473Trp) | |
| 12 | g.56004786G>A | CA385294408 | SUOX | c.1397G>A (p.Gly466Glu) c.1418G>A (p.Gly473Glu) | |
| 12 | g.56004786G>C | CA385294409 | SUOX | c.1397G>C (p.Gly466Ala) c.1418G>C (p.Gly473Ala) | |
| 12 | g.56004786G>T | CA385294411 | SUOX | c.1397G>T (p.Gly466Val) c.1418G>T (p.Gly473Val) | |
| 12 | g.56004787G>A | CA480366568 | SUOX | c.1398G>A (p.Gly466=) c.1419G>A (p.Gly473=) | |
| 12 | g.56004787G>C | CA480366569 | SUOX | c.1398G>C (p.Gly466=) c.1419G>C (p.Gly473=) | gnomAD v4 |
| 12 | g.56004787G>T | CA480366570 | SUOX | c.1398G>T (p.Gly466=) c.1419G>T (p.Gly473=) | |
| 12 | g.56004788G>A | CA385294415 | SUOX | c.1399G>A (p.Gly467Ser) c.1420G>A (p.Gly474Ser) | |
| 12 | g.56004788G>C | CA385294418 | SUOX | c.1399G>C (p.Gly467Arg) c.1420G>C (p.Gly474Arg) | |
| 12 | g.56004788G>T | CA385294421 | SUOX | c.1399G>T (p.Gly467Cys) c.1420G>T (p.Gly474Cys) | gnomAD v4 |
| 12 | g.56004789G>A | CA385294428 | SUOX | c.1400G>A (p.Gly467Asp) c.1421G>A (p.Gly474Asp) | |
| 12 | g.56004789G>C | CA385294426 | SUOX | c.1400G>C (p.Gly467Ala) c.1421G>C (p.Gly474Ala) | |
| 12 | g.56004789G>T | CA385294425 | SUOX | c.1400G>T (p.Gly467Val) c.1421G>T (p.Gly474Val) | |
| 12 | g.56004790C>A | CA480366572 | SUOX | c.1401C>A (p.Gly467=) c.1422C>A (p.Gly474=) | |
| 12 | g.56004790C>G | CA480366573 | SUOX | c.1401C>G (p.Gly467=) c.1422C>G (p.Gly474=) | |
| 12 | g.56004790C>T | CA480366574 | SUOX | c.1401C>T (p.Gly467=) c.1422C>T (p.Gly474=) | |
| 12 | g.56004790_56004806delinsCCTAACCTGGCAGGTGG | CA2038198035 | SUOX | c.1401_1417delinsCCTAACCTGGCAGGTGG (p.Gly467=) c.1422_1438delinsCCTAACCTGGCAGGTGG (p.Gly474=) | |
| 12 | g.56004791C>A | CA385294433 | SUOX | c.1402C>A (p.Leu468Ile) c.1423C>A (p.Leu475Ile) | |
| 12 | g.56004791C>G | CA385294435 | SUOX | c.1402C>G (p.Leu468Val) c.1423C>G (p.Leu475Val) | |
| 12 | g.56004791C>T | CA480366576 | SUOX | c.1402C>T (p.Leu468=) c.1423C>T (p.Leu475=) | |
| 12 | g.56004795_56004810del | CA605403833 | SUOX | c.1406_1421del (p.Thr469SerfsTer20) c.1427_1442del (p.Thr476SerfsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004792T>A | CA385294440 | SUOX | c.1403T>A (p.Leu468Gln) c.1424T>A (p.Leu475Gln) | dbSNP |
| 12 | g.56004792T>C | CA385294441 | SUOX | c.1403T>C (p.Leu468Pro) c.1424T>C (p.Leu475Pro) | |
| 12 | g.56004792T>G | CA385294442 | SUOX | c.1403T>G (p.Leu468Arg) c.1424T>G (p.Leu475Arg) | gnomAD v4 |
| 12 | g.56004792T= | CA2038198036 | SUOX | c.1403T= (p.Leu468=) c.1424T= (p.Leu475=) | |
| 12 | g.56004793A>C | CA480366579 | SUOX | c.1404A>C (p.Leu468=) c.1425A>C (p.Leu475=) | |
| 12 | g.56004793A>G | CA480366578 | SUOX | c.1404A>G (p.Leu468=) c.1425A>G (p.Leu475=) | |
| 12 | g.56004793A>T | CA480366577 | SUOX | c.1404A>T (p.Leu468=) c.1425A>T (p.Leu475=) | |
| 12 | g.56004794del | CA2619249630 | SUOX | c.1405del (p.Thr469ProfsTer25) c.1426del (p.Thr476ProfsTer25) | gnomAD v4 |
| 12 | g.56004794A>C | CA385294456 | SUOX | c.1405A>C (p.Thr469Pro) c.1426A>C (p.Thr476Pro) | |
| 12 | g.56004794A>G | CA385294448 | SUOX | c.1405A>G (p.Thr469Ala) c.1426A>G (p.Thr476Ala) | |
| 12 | g.56004794A>T | CA385294444 | SUOX | c.1405A>T (p.Thr469Ser) c.1426A>T (p.Thr476Ser) | |
| 12 | g.56004795C>A | CA385294460 | SUOX | c.1406C>A (p.Thr469Asn) c.1427C>A (p.Thr476Asn) | |
| 12 | g.56004795C= | CA2038198037 | SUOX | c.1406C= (p.Thr469=) c.1427C= (p.Thr476=) | |
| 12 | g.56004795C>G | CA385294471 | SUOX | c.1406C>G (p.Thr469Ser) c.1427C>G (p.Thr476Ser) | |
| 12 | g.56004795C>T | CA385294475 | SUOX | c.1406C>T (p.Thr469Ile) c.1427C>T (p.Thr476Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004796C>A | CA480366580 | SUOX | c.1407C>A (p.Thr469=) c.1428C>A (p.Thr476=) | |
| 12 | g.56004796C>G | CA480366581 | SUOX | c.1407C>G (p.Thr469=) c.1428C>G (p.Thr476=) | ClinVar gnomAD v4 |
| 12 | g.56004796C>T | CA480366582 | SUOX | c.1407C>T (p.Thr469=) c.1428C>T (p.Thr476=) | |
| 12 | g.56004797T>A | CA385294476 | SUOX | c.1408T>A (p.Trp470Arg) c.1429T>A (p.Trp477Arg) | |
| 12 | g.56004797T>C | CA385294477 | SUOX | c.1408T>C (p.Trp470Arg) c.1429T>C (p.Trp477Arg) | gnomAD v4 |
| 12 | g.56004797T>G | CA385294497 | SUOX | c.1408T>G (p.Trp470Gly) c.1429T>G (p.Trp477Gly) | |
| 12 | g.56004798G>A | CA385294502 | SUOX | c.1409G>A (p.Trp470Ter) c.1430G>A (p.Trp477Ter) | |
| 12 | g.56004798G>C | CA385294508 | SUOX | c.1409G>C (p.Trp470Ser) c.1430G>C (p.Trp477Ser) | |
| 12 | g.56004798G>T | CA385294506 | SUOX | c.1409G>T (p.Trp470Leu) c.1430G>T (p.Trp477Leu) | |
| 12 | g.56004799G>A | CA385294517 | SUOX | c.1410G>A (p.Trp470Ter) c.1431G>A (p.Trp477Ter) | |
| 12 | g.56004799G>C | CA385294521 | SUOX | c.1410G>C (p.Trp470Cys) c.1431G>C (p.Trp477Cys) | |
| 12 | g.56004799G>T | CA385294528 | SUOX | c.1410G>T (p.Trp470Cys) c.1431G>T (p.Trp477Cys) | |
| 12 | g.56004800del | CA2739272084 | SUOX | c.1411del (p.Gln471ArgfsTer23) c.1432del (p.Gln478ArgfsTer23) | ClinVar |
| 12 | g.56004800C>A | CA385294534 | SUOX | c.1411C>A (p.Gln471Lys) c.1432C>A (p.Gln478Lys) | |
| 12 | g.56004800C>G | CA385294541 | SUOX | c.1411C>G (p.Gln471Glu) c.1432C>G (p.Gln478Glu) | |
| 12 | g.56004800C>T | CA385294552 | SUOX | c.1411C>T (p.Gln471Ter) c.1432C>T (p.Gln478Ter) | |
| 12 | g.56004801A>C | CA385294562 | SUOX | c.1412A>C (p.Gln471Pro) c.1433A>C (p.Gln478Pro) | |
| 12 | g.56004801A>G | CA385294571 | SUOX | c.1412A>G (p.Gln471Arg) c.1433A>G (p.Gln478Arg) | gnomAD v4 |
| 12 | g.56004801A>T | CA385294574 | SUOX | c.1412A>T (p.Gln471Leu) c.1433A>T (p.Gln478Leu) | gnomAD v4 |
| 12 | g.56004802G>A | CA480366583 | SUOX | c.1413G>A (p.Gln471=) c.1434G>A (p.Gln478=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004802G>C | CA385294579 | SUOX | c.1413G>C (p.Gln471His) c.1434G>C (p.Gln478His) | |
| 12 | g.56004802G= | CA2038198038 | SUOX | c.1413G= (p.Gln471=) c.1434G= (p.Gln478=) | |
| 12 | g.56004802G>T | CA385294581 | SUOX | c.1413G>T (p.Gln471His) c.1434G>T (p.Gln478His) | |
| 12 | g.56004803G>A | CA385294587 | SUOX | c.1414G>A (p.Val472Met) c.1435G>A (p.Val479Met) | |
| 12 | g.56004803G>C | CA385294588 | SUOX | c.1414G>C (p.Val472Leu) c.1435G>C (p.Val479Leu) | |
| 12 | g.56004803G>T | CA385294586 | SUOX | c.1414G>T (p.Val472Leu) c.1435G>T (p.Val479Leu) | |
| 12 | g.56004804T>A | CA385294594 | SUOX | c.1415T>A (p.Val472Glu) c.1436T>A (p.Val479Glu) | |
| 12 | g.56004804T>C | CA385294610 | SUOX | c.1415T>C (p.Val472Ala) c.1436T>C (p.Val479Ala) | |
| 12 | g.56004804T>G | CA385294598 | SUOX | c.1415T>G (p.Val472Gly) c.1436T>G (p.Val479Gly) | dbSNP |
| 12 | g.56004804T= | CA2038198039 | SUOX | c.1415T= (p.Val472=) c.1436T= (p.Val479=) | |
| 12 | g.56004805G>A | CA480366584 | SUOX | c.1416G>A (p.Val472=) c.1437G>A (p.Val479=) | gnomAD v4 |
| 12 | g.56004805G>C | CA480366585 | SUOX | c.1416G>C (p.Val472=) c.1437G>C (p.Val479=) | |
| 12 | g.56004805G>T | CA480366586 | SUOX | c.1416G>T (p.Val472=) c.1437G>T (p.Val479=) | |
| 12 | g.56004806G>A | CA385294615 | SUOX | c.1417G>A (p.Ala473Thr) c.1438G>A (p.Ala480Thr) | |
| 12 | g.56004806G>C | CA385294622 | SUOX | c.1417G>C (p.Ala473Pro) c.1438G>C (p.Ala480Pro) | |
| 12 | g.56004806G>T | CA385294618 | SUOX | c.1417G>T (p.Ala473Ser) c.1438G>T (p.Ala480Ser) | |
| 12 | g.56004807C>A | CA385294626 | SUOX | c.1418C>A (p.Ala473Asp) c.1439C>A (p.Ala480Asp) | |
| 12 | g.56004807C>G | CA385294628 | SUOX | c.1418C>G (p.Ala473Gly) c.1439C>G (p.Ala480Gly) | |
| 12 | g.56004807C>T | CA385294627 | SUOX | c.1418C>T (p.Ala473Val) c.1439C>T (p.Ala480Val) | gnomAD v4 |
| 12 | g.56004808T>A | CA480366587 | SUOX | c.1419T>A (p.Ala473=) c.1440T>A (p.Ala480=) | |
| 12 | g.56004808T>C | CA480366588 | SUOX | c.1419T>C (p.Ala473=) c.1440T>C (p.Ala480=) | |
| 12 | g.56004808T>G | CA480366589 | SUOX | c.1419T>G (p.Ala473=) c.1440T>G (p.Ala480=) | |
| 12 | g.56004809A>C | CA385294629 | SUOX | c.1420A>C (p.Lys474Gln) c.1441A>C (p.Lys481Gln) | |
| 12 | g.56004809A>G | CA385294634 | SUOX | c.1420A>G (p.Lys474Glu) c.1441A>G (p.Lys481Glu) | |
| 12 | g.56004809A>T | CA385294641 | SUOX | c.1420A>T (p.Lys474Ter) c.1441A>T (p.Lys481Ter) | |
| 12 | g.56004810A>C | CA385294648 | SUOX | c.1421A>C (p.Lys474Thr) c.1442A>C (p.Lys481Thr) | |
| 12 | g.56004810A>G | CA385294649 | SUOX | c.1421A>G (p.Lys474Arg) c.1442A>G (p.Lys481Arg) | |
| 12 | g.56004810A>T | CA385294652 | SUOX | c.1421A>T (p.Lys474Met) c.1442A>T (p.Lys481Met) | |
| 12 | g.56004811G>A | CA480366590 | SUOX | c.1422G>A (p.Lys474=) c.1443G>A (p.Lys481=) | |
| 12 | g.56004811G>C | CA385294657 | SUOX | c.1422G>C (p.Lys474Asn) c.1443G>C (p.Lys481Asn) | |
| 12 | g.56004811G>T | CA385294661 | SUOX | c.1422G>T (p.Lys474Asn) c.1443G>T (p.Lys481Asn) | |
| 12 | g.56004812C>A | CA385294681 | SUOX | c.1423C>A (p.Leu475Met) c.1444C>A (p.Leu482Met) | |
| 12 | g.56004812C>G | CA385294686 | SUOX | c.1423C>G (p.Leu475Val) c.1444C>G (p.Leu482Val) | |
| 12 | g.56004812C>T | CA480366591 | SUOX | c.1423C>T (p.Leu475=) c.1444C>T (p.Leu482=) | |
| 12 | g.56004813T>A | CA385294715 | SUOX | c.1424T>A (p.Leu475Gln) c.1445T>A (p.Leu482Gln) | |
| 12 | g.56004813T>C | CA385294689 | SUOX | c.1424T>C (p.Leu475Pro) c.1445T>C (p.Leu482Pro) | |
| 12 | g.56004813T>G | CA385294688 | SUOX | c.1424T>G (p.Leu475Arg) c.1445T>G (p.Leu482Arg) | |
| 12 | g.56004814G>A | CA480366592 | SUOX | c.1425G>A (p.Leu475=) c.1446G>A (p.Leu482=) | gnomAD v4 |
| 12 | g.56004814G>C | CA480366594 | SUOX | c.1425G>C (p.Leu475=) c.1446G>C (p.Leu482=) | |
| 12 | g.56004814G>T | CA480366593 | SUOX | c.1425G>T (p.Leu475=) c.1446G>T (p.Leu482=) | |
| 12 | g.56004815G>A | CA6621163 | SUOX | c.1426G>A (p.Asp476Asn) c.1447G>A (p.Asp483Asn) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004815G>C | CA385294724 | SUOX | c.1426G>C (p.Asp476His) c.1447G>C (p.Asp483His) | ClinVar |
| 12 | g.56004815G= | CA2038198040 | SUOX | c.1426G= (p.Asp476=) c.1447G= (p.Asp483=) | |
| 12 | g.56004815G>T | CA385294743 | SUOX | c.1426G>T (p.Asp476Tyr) c.1447G>T (p.Asp483Tyr) | |
| 12 | g.56004816A>C | CA385294752 | SUOX | c.1427A>C (p.Asp476Ala) c.1448A>C (p.Asp483Ala) | |
| 12 | g.56004816A>G | CA385294756 | SUOX | c.1427A>G (p.Asp476Gly) c.1448A>G (p.Asp483Gly) | |
| 12 | g.56004816A>T | CA385294769 | SUOX | c.1427A>T (p.Asp476Val) c.1448A>T (p.Asp483Val) | |
| 12 | g.56004817T>A | CA385294770 | SUOX | c.1428T>A (p.Asp476Glu) c.1449T>A (p.Asp483Glu) | ClinVar |
| 12 | g.56004817T>C | CA480366595 | SUOX | c.1428T>C (p.Asp476=) c.1449T>C (p.Asp483=) | |
| 12 | g.56004817T>G | CA237605341 | SUOX | c.1428T>G (p.Asp476Glu) c.1449T>G (p.Asp483Glu) | dbSNP |
| 12 | g.56004817T= | CA2038198041 | SUOX | c.1428T= (p.Asp476=) c.1449T= (p.Asp483=) | |
| 12 | g.56004818G>A | CA385294773 | SUOX | c.1429G>A (p.Gly477Arg) c.1450G>A (p.Gly484Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004818G>C | CA385294774 | SUOX | c.1429G>C (p.Gly477Arg) c.1450G>C (p.Gly484Arg) | |
| 12 | g.56004818G= | CA2038198042 | SUOX | c.1429G= (p.Gly477=) c.1450G= (p.Gly484=) | |
| 12 | g.56004818G>T | CA385294776 | SUOX | c.1429G>T (p.Gly477Ter) c.1450G>T (p.Gly484Ter) | |
| 12 | g.56004819G>A | CA385294797 | SUOX | c.1430G>A (p.Gly477Glu) c.1451G>A (p.Gly484Glu) | |
| 12 | g.56004819G>C | CA385294815 | SUOX | c.1430G>C (p.Gly477Ala) c.1451G>C (p.Gly484Ala) | |
| 12 | g.56004819G>T | CA385294784 | SUOX | c.1430G>T (p.Gly477Val) c.1451G>T (p.Gly484Val) | gnomAD v4 |
| 12 | g.56004820A>C | CA480366596 | SUOX | c.1431A>C (p.Gly477=) c.1452A>C (p.Gly484=) | |
| 12 | g.56004820A>G | CA480366597 | SUOX | c.1431A>G (p.Gly477=) c.1452A>G (p.Gly484=) | |
| 12 | g.56004820A>T | CA480366598 | SUOX | c.1431A>T (p.Gly477=) c.1452A>T (p.Gly484=) | |
| 12 | g.56004821G>A | CA385294816 | SUOX | c.1432G>A (p.Glu478Lys) c.1453G>A (p.Glu485Lys) | dbSNP gnomAD v4 |
| 12 | g.56004821G>C | CA385294817 | SUOX | c.1432G>C (p.Glu478Gln) c.1453G>C (p.Glu485Gln) | |
| 12 | g.56004821G= | CA2038198043 | SUOX | c.1432G= (p.Glu478=) c.1453G= (p.Glu485=) | |
| 12 | g.56004821G>T | CA385294822 | SUOX | c.1432G>T (p.Glu478Ter) c.1453G>T (p.Glu485Ter) | |
| 12 | g.56004822A>C | CA385294825 | SUOX | c.1433A>C (p.Glu478Ala) c.1454A>C (p.Glu485Ala) | |
| 12 | g.56004822A>G | CA385294828 | SUOX | c.1433A>G (p.Glu478Gly) c.1454A>G (p.Glu485Gly) | |
| 12 | g.56004822A>T | CA385294851 | SUOX | c.1433A>T (p.Glu478Val) c.1454A>T (p.Glu485Val) | |
| 12 | g.56004823G>A | CA480366599 | SUOX | c.1434G>A (p.Glu478=) c.1455G>A (p.Glu485=) | |
| 12 | g.56004823G>C | CA385294854 | SUOX | c.1434G>C (p.Glu478Asp) c.1455G>C (p.Glu485Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004823G>T | CA385294859 | SUOX | c.1434G>T (p.Glu478Asp) c.1455G>T (p.Glu485Asp) | COSMIC |
| 12 | g.56004824G>A | CA385294863 | SUOX | c.1435G>A (p.Glu479Lys) c.1456G>A (p.Glu486Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004824G>C | CA385294869 | SUOX | c.1435G>C (p.Glu479Gln) c.1456G>C (p.Glu486Gln) | |
| 12 | g.56004824G= | CA2038198044 | SUOX | c.1435G= (p.Glu479=) c.1456G= (p.Glu486=) | |
| 12 | g.56004824G>T | CA385294874 | SUOX | c.1435G>T (p.Glu479Ter) c.1456G>T (p.Glu486Ter) | |
| 12 | g.56004825A>C | CA385294876 | SUOX | c.1436A>C (p.Glu479Ala) c.1457A>C (p.Glu486Ala) | |
| 12 | g.56004825A>G | CA385294880 | SUOX | c.1436A>G (p.Glu479Gly) c.1457A>G (p.Glu486Gly) | |
| 12 | g.56004825A>T | CA385294875 | SUOX | c.1436A>T (p.Glu479Val) c.1457A>T (p.Glu486Val) | |
| 12 | g.56004826A>C | CA385294884 | SUOX | c.1437A>C (p.Glu479Asp) c.1458A>C (p.Glu486Asp) | |
| 12 | g.56004826A>G | CA480366600 | SUOX | c.1437A>G (p.Glu479=) c.1458A>G (p.Glu486=) | |
| 12 | g.56004826A>T | CA385294888 | SUOX | c.1437A>T (p.Glu479Asp) c.1458A>T (p.Glu486Asp) | |
| 12 | g.56004827C>A | CA385294893 | SUOX | c.1438C>A (p.Gln480Lys) c.1459C>A (p.Gln487Lys) | |
| 12 | g.56004827C= | CA2038198045 | SUOX | c.1438C= (p.Gln480=) c.1459C= (p.Gln487=) | |
| 12 | g.56004827C>G | CA385294908 | SUOX | c.1438C>G (p.Gln480Glu) c.1459C>G (p.Gln487Glu) | dbSNP |
| 12 | g.56004827C>T | CA385294914 | SUOX | c.1438C>T (p.Gln480Ter) c.1459C>T (p.Gln487Ter) | |
| 12 | g.56004828A>C | CA385294932 | SUOX | c.1439A>C (p.Gln480Pro) c.1460A>C (p.Gln487Pro) | |
| 12 | g.56004828A>G | CA385294922 | SUOX | c.1439A>G (p.Gln480Arg) c.1460A>G (p.Gln487Arg) | gnomAD v4 |
| 12 | g.56004828A>T | CA385294926 | SUOX | c.1439A>T (p.Gln480Leu) c.1460A>T (p.Gln487Leu) | |
| 12 | g.56004829G>A | CA480366601 | SUOX | c.1440G>A (p.Gln480=) c.1461G>A (p.Gln487=) | |
| 12 | g.56004829G>C | CA385294942 | SUOX | c.1440G>C (p.Gln480His) c.1461G>C (p.Gln487His) | |
| 12 | g.56004829G>T | CA385294944 | SUOX | c.1440G>T (p.Gln480His) c.1461G>T (p.Gln487His) | |
| 12 | g.56004830C>A | CA385294953 | SUOX | c.1441C>A (p.Arg481Ser) c.1462C>A (p.Arg488Ser) | |
| 12 | g.56004830C= | CA2038198046 | SUOX | c.1441C= (p.Arg481=) c.1462C= (p.Arg488=) | |
| 12 | g.56004830C>G | CA385294957 | SUOX | c.1441C>G (p.Arg481Gly) c.1462C>G (p.Arg488Gly) | |
| 12 | g.56004830C>T | CA6621164 | SUOX | c.1441C>T (p.Arg481Cys) c.1462C>T (p.Arg488Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.56004831G>A | CA6621165 | SUOX | c.1442G>A (p.Arg481His) c.1463G>A (p.Arg488His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004831G>C | CA385294969 | SUOX | c.1442G>C (p.Arg481Pro) c.1463G>C (p.Arg488Pro) | |
| 12 | g.56004831G= | CA2038198047 | SUOX | c.1442G= (p.Arg481=) c.1463G= (p.Arg488=) | |
| 12 | g.56004831G>T | CA385294966 | SUOX | c.1442G>T (p.Arg481Leu) c.1463G>T (p.Arg488Leu) | |
| 12 | g.56004831_56004832insTG | CA2572739459 | SUOX | c.1442_1443insTG (p.Pro482AlafsTer13) c.1463_1464insTG (p.Pro489AlafsTer13) | |
| 12 | g.56004832C>A | CA480366602 | SUOX | c.1443C>A (p.Arg481=) c.1464C>A (p.Arg488=) | |
| 12 | g.56004832C= | CA2038198048 | SUOX | c.1443C= (p.Arg481=) c.1464C= (p.Arg488=) | |
| 12 | g.56004832C>G | CA480366604 | SUOX | c.1443C>G (p.Arg481=) c.1464C>G (p.Arg488=) | |
| 12 | g.56004832C>T | CA480366603 | SUOX | c.1443C>T (p.Arg481=) c.1464C>T (p.Arg488=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004833C>A | CA385294978 | SUOX | c.1444C>A (p.Pro482Thr) c.1465C>A (p.Pro489Thr) | |
| 12 | g.56004833C>G | CA385294981 | SUOX | c.1444C>G (p.Pro482Ala) c.1465C>G (p.Pro489Ala) | |
| 12 | g.56004833C>T | CA385294990 | SUOX | c.1444C>T (p.Pro482Ser) c.1465C>T (p.Pro489Ser) | gnomAD v4 |
| 12 | g.56004834C>A | CA385294995 | SUOX | c.1445C>A (p.Pro482His) c.1466C>A (p.Pro489His) | |
| 12 | g.56004834C>G | CA385295000 | SUOX | c.1445C>G (p.Pro482Arg) c.1466C>G (p.Pro489Arg) | |
| 12 | g.56004834C>T | CA385295012 | SUOX | c.1445C>T (p.Pro482Leu) c.1466C>T (p.Pro489Leu) | |
| 12 | g.56004835C>A | CA480366605 | SUOX | c.1446C>A (p.Pro482=) c.1467C>A (p.Pro489=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004835C= | CA2038198049 | SUOX | c.1446C= (p.Pro482=) c.1467C= (p.Pro489=) | |
| 12 | g.56004835C>G | CA480366606 | SUOX | c.1446C>G (p.Pro482=) c.1467C>G (p.Pro489=) | |
| 12 | g.56004835C>T | CA480366607 | SUOX | c.1446C>T (p.Pro482=) c.1467C>T (p.Pro489=) | |
| 12 | g.56004835_56004836del | CA2504617342 | SUOX | c.1446_1447del (p.Arg483GlufsTer26) c.1467_1468del (p.Arg490GlufsTer26) | |
| 12 | g.56004836A>C | CA480366608 | SUOX | c.1447A>C (p.Arg483=) c.1468A>C (p.Arg490=) | |
| 12 | g.56004836A>G | CA385295035 | SUOX | c.1447A>G (p.Arg483Gly) c.1468A>G (p.Arg490Gly) | |
| 12 | g.56004836A>T | CA385295038 | SUOX | c.1447A>T (p.Arg483Trp) c.1468A>T (p.Arg490Trp) | |
| 12 | g.56004837G>A | CA385295044 | SUOX | c.1448G>A (p.Arg483Lys) c.1469G>A (p.Arg490Lys) | |
| 12 | g.56004837G>C | CA385295050 | SUOX | c.1448G>C (p.Arg483Thr) c.1469G>C (p.Arg490Thr) | |
| 12 | g.56004837G>T | CA385295052 | SUOX | c.1448G>T (p.Arg483Met) c.1469G>T (p.Arg490Met) | |
| 12 | g.56004838G>A | CA480366609 | SUOX | c.1449G>A (p.Arg483=) c.1470G>A (p.Arg490=) | |
| 12 | g.56004838G>C | CA385295057 | SUOX | c.1449G>C (p.Arg483Ser) c.1470G>C (p.Arg490Ser) | |
| 12 | g.56004838G>T | CA385295058 | SUOX | c.1449G>T (p.Arg483Ser) c.1470G>T (p.Arg490Ser) | |
| 12 | g.56004839A>C | CA385295070 | SUOX | c.1450A>C (p.Lys484Gln) c.1471A>C (p.Lys491Gln) | |
| 12 | g.56004839A>G | CA385295063 | SUOX | c.1450A>G (p.Lys484Glu) c.1471A>G (p.Lys491Glu) | |
| 12 | g.56004839A>T | CA385295061 | SUOX | c.1450A>T (p.Lys484Ter) c.1471A>T (p.Lys491Ter) |