| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004883A>C | CA480180073 | SUOX | c.1494A>C (p.Pro498=) c.1515A>C (p.Pro505=) | ClinVar gnomAD v4 |
| 12 | g.56004883A>G | CA480180074 | SUOX | c.1494A>G (p.Pro498=) c.1515A>G (p.Pro505=) | |
| 12 | g.56004883A>T | CA480180076 | SUOX | c.1494A>T (p.Pro498=) c.1515A>T (p.Pro505=) | |
| 12 | g.56004884G>A | CA385297422 | SUOX | c.1495G>A (p.Ala499Thr) c.1516G>A (p.Ala506Thr) | dbSNP |
| 12 | g.56004884G>C | CA385297433 | SUOX | c.1495G>C (p.Ala499Pro) c.1516G>C (p.Ala506Pro) | dbSNP gnomAD v4 |
| 12 | g.56004884G= | CA2038198070 | SUOX | c.1495G= (p.Ala499=) c.1516G= (p.Ala506=) | |
| 12 | g.56004884G>T | CA385297440 | SUOX | c.1495G>T (p.Ala499Ser) c.1516G>T (p.Ala506Ser) | |
| 12 | g.56004885C>A | CA385297454 | SUOX | c.1496C>A (p.Ala499Asp) c.1517C>A (p.Ala506Asp) | |
| 12 | g.56004885C>G | CA385297455 | SUOX | c.1496C>G (p.Ala499Gly) c.1517C>G (p.Ala506Gly) | |
| 12 | g.56004885C>T | CA385297449 | SUOX | c.1496C>T (p.Ala499Val) c.1517C>T (p.Ala506Val) | gnomAD v4 |
| 12 | g.56004886T>A | CA480180078 | SUOX | c.1497T>A (p.Ala499=) c.1518T>A (p.Ala506=) | |
| 12 | g.56004886T>C | CA480180079 | SUOX | c.1497T>C (p.Ala499=) c.1518T>C (p.Ala506=) | |
| 12 | g.56004886T>G | CA480180080 | SUOX | c.1497T>G (p.Ala499=) c.1518T>G (p.Ala506=) | |
| 12 | g.56004887G>A | CA237605351 | SUOX | c.1498G>A (p.Gly500Arg) c.1519G>A (p.Gly507Arg) | dbSNP gnomAD v4 |
| 12 | g.56004887G>C | CA385297456 | SUOX | c.1498G>C (p.Gly500Arg) c.1519G>C (p.Gly507Arg) | |
| 12 | g.56004887G= | CA2038198071 | SUOX | c.1498G= (p.Gly500=) c.1519G= (p.Gly507=) | |
| 12 | g.56004887G>T | CA385297458 | SUOX | c.1498G>T (p.Gly500Ter) c.1519G>T (p.Gly507Ter) | |
| 12 | g.56004888G>A | CA385297465 | SUOX | c.1499G>A (p.Gly500Glu) c.1520G>A (p.Gly507Glu) | gnomAD v4 |
| 12 | g.56004888G>C | CA385297468 | SUOX | c.1499G>C (p.Gly500Ala) c.1520G>C (p.Gly507Ala) | |
| 12 | g.56004888G>T | CA385297471 | SUOX | c.1499G>T (p.Gly500Val) c.1520G>T (p.Gly507Val) | |
| 12 | g.56004889A>C | CA480180082 | SUOX | c.1500A>C (p.Gly500=) c.1521A>C (p.Gly507=) | |
| 12 | g.56004889A>G | CA480180083 | SUOX | c.1500A>G (p.Gly500=) c.1521A>G (p.Gly507=) | |
| 12 | g.56004889A>T | CA480180084 | SUOX | c.1500A>T (p.Gly500=) c.1521A>T (p.Gly507=) | |
| 12 | g.56004890C>A | CA385297474 | SUOX | c.1501C>A (p.Gln501Lys) c.1522C>A (p.Gln508Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004890C= | CA2038198072 | SUOX | c.1501C= (p.Gln501=) c.1522C= (p.Gln508=) | |
| 12 | g.56004890C>G | CA385297475 | SUOX | c.1501C>G (p.Gln501Glu) c.1522C>G (p.Gln508Glu) | |
| 12 | g.56004890C>T | CA6621170 | SUOX | c.1501C>T (p.Gln501Ter) c.1522C>T (p.Gln508Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004891A= | CA2038198073 | SUOX | c.1502A= (p.Gln501=) c.1523A= (p.Gln508=) | |
| 12 | g.56004891A>C | CA385297477 | SUOX | c.1502A>C (p.Gln501Pro) c.1523A>C (p.Gln508Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004891A>G | CA385297479 | SUOX | c.1502A>G (p.Gln501Arg) c.1523A>G (p.Gln508Arg) | |
| 12 | g.56004891A>T | CA385297481 | SUOX | c.1502A>T (p.Gln501Leu) c.1523A>T (p.Gln508Leu) | |
| 12 | g.56004894dup | CA2619249755 | SUOX | c.1505dup (p.Glu503GlyfsTer7) c.1526dup (p.Glu510GlyfsTer7) | gnomAD v4 |
| 12 | g.56004892A>C | CA385297484 | SUOX | c.1503A>C (p.Gln501His) c.1524A>C (p.Gln508His) | |
| 12 | g.56004892A>G | CA480180088 | SUOX | c.1503A>G (p.Gln501=) c.1524A>G (p.Gln508=) | |
| 12 | g.56004892A>T | CA385297488 | SUOX | c.1503A>T (p.Gln501His) c.1524A>T (p.Gln508His) | |
| 12 | g.56004893A>C | CA385297494 | SUOX | c.1504A>C (p.Lys502Gln) c.1525A>C (p.Lys509Gln) | |
| 12 | g.56004893A>G | CA385297491 | SUOX | c.1504A>G (p.Lys502Glu) c.1525A>G (p.Lys509Glu) | |
| 12 | g.56004893A>T | CA385297492 | SUOX | c.1504A>T (p.Lys502Ter) c.1525A>T (p.Lys509Ter) | |
| 12 | g.56004894A>C | CA385297502 | SUOX | c.1505A>C (p.Lys502Thr) c.1526A>C (p.Lys509Thr) | |
| 12 | g.56004894A>G | CA385297509 | SUOX | c.1505A>G (p.Lys502Arg) c.1526A>G (p.Lys509Arg) | |
| 12 | g.56004894A>T | CA385297547 | SUOX | c.1505A>T (p.Lys502Met) c.1526A>T (p.Lys509Met) | |
| 12 | g.56004895G>A | CA480180092 | SUOX | c.1506G>A (p.Lys502=) c.1527G>A (p.Lys509=) | |
| 12 | g.56004895G>C | CA385297554 | SUOX | c.1506G>C (p.Lys502Asn) c.1527G>C (p.Lys509Asn) | |
| 12 | g.56004895G>T | CA385297562 | SUOX | c.1506G>T (p.Lys502Asn) c.1527G>T (p.Lys509Asn) | |
| 12 | g.56004896G>A | CA385297563 | SUOX | c.1507G>A (p.Glu503Lys) c.1528G>A (p.Glu510Lys) | dbSNP gnomAD v4 |
| 12 | g.56004896G>C | CA385297564 | SUOX | c.1507G>C (p.Glu503Gln) c.1528G>C (p.Glu510Gln) | |
| 12 | g.56004896G= | CA2038198074 | SUOX | c.1507G= (p.Glu503=) c.1528G= (p.Glu510=) | |
| 12 | g.56004896G>T | CA385297565 | SUOX | c.1507G>T (p.Glu503Ter) c.1528G>T (p.Glu510Ter) | |
| 12 | g.56004897A= | CA2038198075 | SUOX | c.1508A= (p.Glu503=) c.1529A= (p.Glu510=) | |
| 12 | g.56004897A>C | CA385297570 | SUOX | c.1508A>C (p.Glu503Ala) c.1529A>C (p.Glu510Ala) | |
| 12 | g.56004897A>G | CA385297574 | SUOX | c.1508A>G (p.Glu503Gly) c.1529A>G (p.Glu510Gly) | |
| 12 | g.56004897A>T | CA385297579 | SUOX | c.1508A>T (p.Glu503Val) c.1529A>T (p.Glu510Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004898del | CA2619249765 | SUOX | c.1509del (p.Glu503AspfsTer2) c.1530del (p.Glu510AspfsTer2) | gnomAD v4 |
| 12 | g.56004898A= | CA2038198076 | SUOX | c.1509A= (p.Glu503=) c.1530A= (p.Glu510=) | |
| 12 | g.56004898A>C | CA385297589 | SUOX | c.1509A>C (p.Glu503Asp) c.1530A>C (p.Glu510Asp) | |
| 12 | g.56004898A>G | CA480180096 | SUOX | c.1509A>G (p.Glu503=) c.1530A>G (p.Glu510=) | dbSNP |
| 12 | g.56004898A>T | CA385297596 | SUOX | c.1509A>T (p.Glu503Asp) c.1530A>T (p.Glu510Asp) | |
| 12 | g.56004899C>A | CA385297597 | SUOX | c.1510C>A (p.Leu504Met) c.1531C>A (p.Leu511Met) | |
| 12 | g.56004899C= | CA2038198077 | SUOX | c.1510C= (p.Leu504=) c.1531C= (p.Leu511=) | |
| 12 | g.56004899C>G | CA6621171 | SUOX | c.1510C>G (p.Leu504Val) c.1531C>G (p.Leu511Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004899C>T | CA480180097 | SUOX | c.1510C>T (p.Leu504=) c.1531C>T (p.Leu511=) | |
| 12 | g.56004900T>A | CA385297611 | SUOX | c.1511T>A (p.Leu504Gln) c.1532T>A (p.Leu511Gln) | |
| 12 | g.56004900T>C | CA385297612 | SUOX | c.1511T>C (p.Leu504Pro) c.1532T>C (p.Leu511Pro) | |
| 12 | g.56004900T>G | CA385297613 | SUOX | c.1511T>G (p.Leu504Arg) c.1532T>G (p.Leu511Arg) | gnomAD v4 |
| 12 | g.56004901G>A | CA480180099 | SUOX | c.1512G>A (p.Leu504=) c.1533G>A (p.Leu511=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004901G>C | CA480180100 | SUOX | c.1512G>C (p.Leu504=) c.1533G>C (p.Leu511=) | ClinVar |
| 12 | g.56004901G= | CA2038198078 | SUOX | c.1512G= (p.Leu504=) c.1533G= (p.Leu511=) | |
| 12 | g.56004901G>T | CA480180101 | SUOX | c.1512G>T (p.Leu504=) c.1533G>T (p.Leu511=) | |
| 12 | g.56004902A>C | CA385297614 | SUOX | c.1513A>C (p.Asn505His) c.1534A>C (p.Asn512His) | |
| 12 | g.56004902A>G | CA385297616 | SUOX | c.1513A>G (p.Asn505Asp) c.1534A>G (p.Asn512Asp) | gnomAD v4 |
| 12 | g.56004902A>T | CA385297617 | SUOX | c.1513A>T (p.Asn505Tyr) c.1534A>T (p.Asn512Tyr) | |
| 12 | g.56004903A>C | CA385297621 | SUOX | c.1514A>C (p.Asn505Thr) c.1535A>C (p.Asn512Thr) | |
| 12 | g.56004903A>G | CA385297624 | SUOX | c.1514A>G (p.Asn505Ser) c.1535A>G (p.Asn512Ser) | |
| 12 | g.56004903A>T | CA385297629 | SUOX | c.1514A>T (p.Asn505Ile) c.1535A>T (p.Asn512Ile) | |
| 12 | g.56004904C>A | CA385297641 | SUOX | c.1515C>A (p.Asn505Lys) c.1536C>A (p.Asn512Lys) | dbSNP |
| 12 | g.56004904C= | CA2038198079 | SUOX | c.1515C= (p.Asn505=) c.1536C= (p.Asn512=) | |
| 12 | g.56004904C>G | CA385297646 | SUOX | c.1515C>G (p.Asn505Lys) c.1536C>G (p.Asn512Lys) | |
| 12 | g.56004904C>T | CA6621172 | SUOX | c.1515C>T (p.Asn505=) c.1536C>T (p.Asn512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004905A>C | CA385297670 | SUOX | c.1516A>C (p.Ile506Leu) c.1537A>C (p.Ile513Leu) | |
| 12 | g.56004905A>G | CA385297689 | SUOX | c.1516A>G (p.Ile506Val) c.1537A>G (p.Ile513Val) | gnomAD v4 |
| 12 | g.56004905A>T | CA385297664 | SUOX | c.1516A>T (p.Ile506Phe) c.1537A>T (p.Ile513Phe) | |
| 12 | g.56004905_56004909delinsATTGT | CA2038198080 | SUOX | c.1516_1520delinsATTGT (p.Ile506=) c.1537_1541delinsATTGT (p.Ile513=) | |
| 12 | g.56004906T>A | CA385297695 | SUOX | c.1517T>A (p.Ile506Asn) c.1538T>A (p.Ile513Asn) | |
| 12 | g.56004906T>C | CA385297700 | SUOX | c.1517T>C (p.Ile506Thr) c.1538T>C (p.Ile513Thr) | |
| 12 | g.56004906T>G | CA385297705 | SUOX | c.1517T>G (p.Ile506Ser) c.1538T>G (p.Ile513Ser) | |
| 12 | g.56004910_56004913del | CA2038198081 | SUOX | c.1521_1524del (p.Cys508ArgfsTer?) c.1542_1545del (p.Cys515ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004907T>A | CA480180107 | SUOX | c.1518T>A (p.Ile506=) c.1539T>A (p.Ile513=) | gnomAD v4 |
| 12 | g.56004907T>C | CA480180108 | SUOX | c.1518T>C (p.Ile506=) c.1539T>C (p.Ile513=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004907T>G | CA385297710 | SUOX | c.1518T>G (p.Ile506Met) c.1539T>G (p.Ile513Met) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004907T= | CA2038198082 | SUOX | c.1518T= (p.Ile506=) c.1539T= (p.Ile513=) | |
| 12 | g.56004908G>A | CA385297723 | SUOX | c.1519G>A (p.Val507Ile) c.1540G>A (p.Val514Ile) | |
| 12 | g.56004908G>C | CA385297720 | SUOX | c.1519G>C (p.Val507Leu) c.1540G>C (p.Val514Leu) | |
| 12 | g.56004908G>T | CA385297716 | SUOX | c.1519G>T (p.Val507Phe) c.1540G>T (p.Val514Phe) | gnomAD v4 |
| 12 | g.56004909T>A | CA237605355 | SUOX | c.1520T>A (p.Val507Asp) c.1541T>A (p.Val514Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004909T>C | CA385297730 | SUOX | c.1520T>C (p.Val507Ala) c.1541T>C (p.Val514Ala) | |
| 12 | g.56004909T>G | CA385297731 | SUOX | c.1520T>G (p.Val507Gly) c.1541T>G (p.Val514Gly) | |
| 12 | g.56004909T= | CA2038198083 | SUOX | c.1520T= (p.Val507=) c.1541T= (p.Val514=) | |
| 12 | g.56004910T>A | CA480180110 | SUOX | c.1521T>A (p.Val507=) c.1542T>A (p.Val514=) | |
| 12 | g.56004910T>C | CA480180111 | SUOX | c.1521T>C (p.Val507=) c.1542T>C (p.Val514=) | |
| 12 | g.56004910T>G | CA480180112 | SUOX | c.1521T>G (p.Val507=) c.1542T>G (p.Val514=) | |
| 12 | g.56004911T>A | CA385297732 | SUOX | c.1522T>A (p.Cys508Ser) c.1543T>A (p.Cys515Ser) | |
| 12 | g.56004911T>C | CA385297735 | SUOX | c.1522T>C (p.Cys508Arg) c.1543T>C (p.Cys515Arg) | dbSNP gnomAD v4 |
| 12 | g.56004911T>G | CA385297740 | SUOX | c.1522T>G (p.Cys508Gly) c.1543T>G (p.Cys515Gly) | |
| 12 | g.56004911T= | CA2038198084 | SUOX | c.1522T= (p.Cys508=) c.1543T= (p.Cys515=) | |
| 12 | g.56004912G>A | CA385297745 | SUOX | c.1523G>A (p.Cys508Tyr) c.1544G>A (p.Cys515Tyr) | gnomAD v4 |
| 12 | g.56004912G>C | CA385297751 | SUOX | c.1523G>C (p.Cys508Ser) c.1544G>C (p.Cys515Ser) | |
| 12 | g.56004912G= | CA2038198085 | SUOX | c.1523G= (p.Cys508=) c.1544G= (p.Cys515=) | |
| 12 | g.56004912G>T | CA385297750 | SUOX | c.1523G>T (p.Cys508Phe) c.1544G>T (p.Cys515Phe) | dbSNP gnomAD v4 |
| 12 | g.56004913T>A | CA385297752 | SUOX | c.1524T>A (p.Cys508Ter) c.1545T>A (p.Cys515Ter) | |
| 12 | g.56004913T>C | CA480180114 | SUOX | c.1524T>C (p.Cys508=) c.1545T>C (p.Cys515=) | gnomAD v4 |
| 12 | g.56004913T>G | CA385297753 | SUOX | c.1524T>G (p.Cys508Trp) c.1545T>G (p.Cys515Trp) | |
| 12 | g.56004914A= | CA2038198086 | SUOX | c.1525A= (p.Lys509=) c.1546A= (p.Lys516=) | |
| 12 | g.56004914A>C | CA385297757 | SUOX | c.1525A>C (p.Lys509Gln) c.1546A>C (p.Lys516Gln) | |
| 12 | g.56004914A>G | CA6621173 | SUOX | c.1525A>G (p.Lys509Glu) c.1546A>G (p.Lys516Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004914A>T | CA385297765 | SUOX | c.1525A>T (p.Lys509Ter) c.1546A>T (p.Lys516Ter) | |
| 12 | g.56004915A>C | CA385297773 | SUOX | c.1526A>C (p.Lys509Thr) c.1547A>C (p.Lys516Thr) | |
| 12 | g.56004915A>G | CA385297777 | SUOX | c.1526A>G (p.Lys509Arg) c.1547A>G (p.Lys516Arg) | |
| 12 | g.56004915A>T | CA385297787 | SUOX | c.1526A>T (p.Lys509Met) c.1547A>T (p.Lys516Met) | |
| 12 | g.56004916G>A | CA6621174 | SUOX | c.1527G>A (p.Lys509=) c.1548G>A (p.Lys516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004916G>C | CA385297797 | SUOX | c.1527G>C (p.Lys509Asn) c.1548G>C (p.Lys516Asn) | |
| 12 | g.56004916G= | CA2038198087 | SUOX | c.1527G= (p.Lys509=) c.1548G= (p.Lys516=) | |
| 12 | g.56004916G>T | CA385297810 | SUOX | c.1527G>T (p.Lys509Asn) c.1548G>T (p.Lys516Asn) | |
| 12 | g.56004917G>A | CA385297826 | SUOX | c.1528G>A (p.Ala510Thr) c.1549G>A (p.Ala517Thr) | dbSNP |
| 12 | g.56004917G>C | CA385297820 | SUOX | c.1528G>C (p.Ala510Pro) c.1549G>C (p.Ala517Pro) | |
| 12 | g.56004917G= | CA2038198088 | SUOX | c.1528G= (p.Ala510=) c.1549G= (p.Ala517=) | |
| 12 | g.56004917G>T | CA385297819 | SUOX | c.1528G>T (p.Ala510Ser) c.1549G>T (p.Ala517Ser) | |
| 12 | g.56004918del | CA2619249823 | SUOX | c.1529del (p.Ala510ValfsTer?) c.1550del (p.Ala517ValfsTer?) | gnomAD v4 |
| 12 | g.56004918C>A | CA385297831 | SUOX | c.1529C>A (p.Ala510Asp) c.1550C>A (p.Ala517Asp) | |
| 12 | g.56004918C>G | CA385297841 | SUOX | c.1529C>G (p.Ala510Gly) c.1550C>G (p.Ala517Gly) | |
| 12 | g.56004918C>T | CA385297848 | SUOX | c.1529C>T (p.Ala510Val) c.1550C>T (p.Ala517Val) | gnomAD v4 |
| 12 | g.56004919T>A | CA480180119 | SUOX | c.1530T>A (p.Ala510=) c.1551T>A (p.Ala517=) | |
| 12 | g.56004919T>C | CA480180118 | SUOX | c.1530T>C (p.Ala510=) c.1551T>C (p.Ala517=) | |
| 12 | g.56004919T>G | CA480180117 | SUOX | c.1530T>G (p.Ala510=) c.1551T>G (p.Ala517=) | |
| 12 | g.56004920G>A | CA6621175 | SUOX | c.1531G>A (p.Val511Met) c.1552G>A (p.Val518Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004920G>C | CA385297858 | SUOX | c.1531G>C (p.Val511Leu) c.1552G>C (p.Val518Leu) | |
| 12 | g.56004920G= | CA2038198089 | SUOX | c.1531G= (p.Val511=) c.1552G= (p.Val518=) | |
| 12 | g.56004920G>T | CA385297861 | SUOX | c.1531G>T (p.Val511Leu) c.1552G>T (p.Val518Leu) | |
| 12 | g.56004921T>A | CA385297866 | SUOX | c.1532T>A (p.Val511Glu) c.1553T>A (p.Val518Glu) | |
| 12 | g.56004921T>C | CA385297880 | SUOX | c.1532T>C (p.Val511Ala) c.1553T>C (p.Val518Ala) | |
| 12 | g.56004921T>G | CA385297869 | SUOX | c.1532T>G (p.Val511Gly) c.1553T>G (p.Val518Gly) | |
| 12 | g.56004922G>A | CA480180124 | SUOX | c.1533G>A (p.Val511=) c.1554G>A (p.Val518=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004922G>C | CA480180123 | SUOX | c.1533G>C (p.Val511=) c.1554G>C (p.Val518=) | |
| 12 | g.56004922G= | CA2038198090 | SUOX | c.1533G= (p.Val511=) c.1554G= (p.Val518=) | |
| 12 | g.56004922G>T | CA480180122 | SUOX | c.1533G>T (p.Val511=) c.1554G>T (p.Val518=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004923G>A | CA385297884 | SUOX | c.1534G>A (p.Asp512Asn) c.1555G>A (p.Asp519Asn) | |
| 12 | g.56004923G>C | CA385297888 | SUOX | c.1534G>C (p.Asp512His) c.1555G>C (p.Asp519His) | |
| 12 | g.56004923G= | CA2038198091 | SUOX | c.1534G= (p.Asp512=) c.1555G= (p.Asp519=) | |
| 12 | g.56004923G>T | CA6621176 | SUOX | c.1534G>T (p.Asp512Tyr) c.1555G>T (p.Asp519Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004924A>C | CA385297902 | SUOX | c.1535A>C (p.Asp512Ala) c.1556A>C (p.Asp519Ala) | |
| 12 | g.56004924A>G | CA385297908 | SUOX | c.1535A>G (p.Asp512Gly) c.1556A>G (p.Asp519Gly) | |
| 12 | g.56004924A>T | CA385297911 | SUOX | c.1535A>T (p.Asp512Val) c.1556A>T (p.Asp519Val) | gnomAD v4 |
| 12 | g.56004925T>A | CA385297918 | SUOX | c.1536T>A (p.Asp512Glu) c.1557T>A (p.Asp519Glu) | |
| 12 | g.56004925T>C | CA480180128 | SUOX | c.1536T>C (p.Asp512=) c.1557T>C (p.Asp519=) | |
| 12 | g.56004925T>G | CA385297922 | SUOX | c.1536T>G (p.Asp512Glu) c.1557T>G (p.Asp519Glu) | |
| 12 | g.56004926G>A | CA385297931 | SUOX | c.1537G>A (p.Asp513Asn) c.1558G>A (p.Asp520Asn) | |
| 12 | g.56004926G>C | CA385297938 | SUOX | c.1537G>C (p.Asp513His) c.1558G>C (p.Asp520His) | |
| 12 | g.56004926G>T | CA385297940 | SUOX | c.1537G>T (p.Asp513Tyr) c.1558G>T (p.Asp520Tyr) | |
| 12 | g.56004927A>C | CA385297948 | SUOX | c.1538A>C (p.Asp513Ala) c.1559A>C (p.Asp520Ala) | |
| 12 | g.56004927A>G | CA385297956 | SUOX | c.1538A>G (p.Asp513Gly) c.1559A>G (p.Asp520Gly) | |
| 12 | g.56004927A>T | CA385297953 | SUOX | c.1538A>T (p.Asp513Val) c.1559A>T (p.Asp520Val) | |
| 12 | g.56004928T>A | CA385297960 | SUOX | c.1539T>A (p.Asp513Glu) c.1560T>A (p.Asp520Glu) | |
| 12 | g.56004928T>C | CA480180129 | SUOX | c.1539T>C (p.Asp513=) c.1560T>C (p.Asp520=) | |
| 12 | g.56004928T>G | CA385297963 | SUOX | c.1539T>G (p.Asp513Glu) c.1560T>G (p.Asp520Glu) | |
| 12 | g.56004929G>A | CA385297968 | SUOX | c.1540G>A (p.Gly514Ser) c.1561G>A (p.Gly521Ser) | |
| 12 | g.56004929G>C | CA385297985 | SUOX | c.1540G>C (p.Gly514Arg) c.1561G>C (p.Gly521Arg) | |
| 12 | g.56004929G>T | CA385297996 | SUOX | c.1540G>T (p.Gly514Cys) c.1561G>T (p.Gly521Cys) | gnomAD v4 |
| 12 | g.56004930G>A | CA385298008 | SUOX | c.1541G>A (p.Gly514Asp) c.1562G>A (p.Gly521Asp) | |
| 12 | g.56004930G>C | CA385298025 | SUOX | c.1541G>C (p.Gly514Ala) c.1562G>C (p.Gly521Ala) | |
| 12 | g.56004930G>T | CA385298039 | SUOX | c.1541G>T (p.Gly514Val) c.1562G>T (p.Gly521Val) | |
| 12 | g.56004931T>A | CA480180132 | SUOX | c.1542T>A (p.Gly514=) c.1563T>A (p.Gly521=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004931T>C | CA480180133 | SUOX | c.1542T>C (p.Gly514=) c.1563T>C (p.Gly521=) | |
| 12 | g.56004931T>G | CA480180134 | SUOX | c.1542T>G (p.Gly514=) c.1563T>G (p.Gly521=) | |
| 12 | g.56004931T= | CA2038198092 | SUOX | c.1542T= (p.Gly514=) c.1563T= (p.Gly521=) | |
| 12 | g.56004932T>A | CA385298043 | SUOX | c.1543T>A (p.Tyr515Asn) c.1564T>A (p.Tyr522Asn) | |
| 12 | g.56004932T>C | CA385298059 | SUOX | c.1543T>C (p.Tyr515His) c.1564T>C (p.Tyr522His) | dbSNP gnomAD v4 |
| 12 | g.56004932T>G | CA385298065 | SUOX | c.1543T>G (p.Tyr515Asp) c.1564T>G (p.Tyr522Asp) | |
| 12 | g.56004932T= | CA2038198093 | SUOX | c.1543T= (p.Tyr515=) c.1564T= (p.Tyr522=) | |
| 12 | g.56004933A>C | CA385298076 | SUOX | c.1544A>C (p.Tyr515Ser) c.1565A>C (p.Tyr522Ser) | |
| 12 | g.56004933A>G | CA385298074 | SUOX | c.1544A>G (p.Tyr515Cys) c.1565A>G (p.Tyr522Cys) | |
| 12 | g.56004933A>T | CA385298071 | SUOX | c.1544A>T (p.Tyr515Phe) c.1565A>T (p.Tyr522Phe) | |
| 12 | g.56004934C>A | CA385298083 | SUOX | c.1545C>A (p.Tyr515Ter) c.1566C>A (p.Tyr522Ter) | |
| 12 | g.56004934C>G | CA385298089 | SUOX | c.1545C>G (p.Tyr515Ter) c.1566C>G (p.Tyr522Ter) | ClinVar |
| 12 | g.56004934C>T | CA480180138 | SUOX | c.1545C>T (p.Tyr515=) c.1566C>T (p.Tyr522=) | dbSNP gnomAD v4 |
| 12 | g.56004935A>C | CA385298094 | SUOX | c.1546A>C (p.Asn516His) c.1567A>C (p.Asn523His) | |
| 12 | g.56004935A>G | CA385298099 | SUOX | c.1546A>G (p.Asn516Asp) c.1567A>G (p.Asn523Asp) | |
| 12 | g.56004935A>T | CA385298102 | SUOX | c.1546A>T (p.Asn516Tyr) c.1567A>T (p.Asn523Tyr) | |
| 12 | g.56004936A= | CA2038198094 | SUOX | c.1547A= (p.Asn516=) c.1568A= (p.Asn523=) | |
| 12 | g.56004936A>C | CA385298107 | SUOX | c.1547A>C (p.Asn516Thr) c.1568A>C (p.Asn523Thr) | |
| 12 | g.56004936A>G | CA385298112 | SUOX | c.1547A>G (p.Asn516Ser) c.1568A>G (p.Asn523Ser) | dbSNP gnomAD v4 |
| 12 | g.56004936A>T | CA385298117 | SUOX | c.1547A>T (p.Asn516Ile) c.1568A>T (p.Asn523Ile) | |
| 12 | g.56004937T>A | CA385298119 | SUOX | c.1548T>A (p.Asn516Lys) c.1569T>A (p.Asn523Lys) | |
| 12 | g.56004937T>C | CA237605360 | SUOX | c.1548T>C (p.Asn516=) c.1569T>C (p.Asn523=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004937T>G | CA385298121 | SUOX | c.1548T>G (p.Asn516Lys) c.1569T>G (p.Asn523Lys) | |
| 12 | g.56004937T= | CA2038198095 | SUOX | c.1548T= (p.Asn516=) c.1569T= (p.Asn523=) | |
| 12 | g.56004938G>A | CA385298124 | SUOX | c.1549G>A (p.Val517Met) c.1570G>A (p.Val524Met) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004938G>C | CA385298149 | SUOX | c.1549G>C (p.Val517Leu) c.1570G>C (p.Val524Leu) | |
| 12 | g.56004938G= | CA2038198096 | SUOX | c.1549G= (p.Val517=) c.1570G= (p.Val524=) | |
| 12 | g.56004938G>T | CA385298159 | SUOX | c.1549G>T (p.Val517Leu) c.1570G>T (p.Val524Leu) | |
| 12 | g.56004939T>A | CA385298192 | SUOX | c.1550T>A (p.Val517Glu) c.1571T>A (p.Val524Glu) | |
| 12 | g.56004939T>C | CA385298185 | SUOX | c.1550T>C (p.Val517Ala) c.1571T>C (p.Val524Ala) | |
| 12 | g.56004939T>G | CA385298179 | SUOX | c.1550T>G (p.Val517Gly) c.1571T>G (p.Val524Gly) | |
| 12 | g.56004940G>A | CA480180144 | SUOX | c.1551G>A (p.Val517=) c.1572G>A (p.Val524=) | |
| 12 | g.56004940G>C | CA480180146 | SUOX | c.1551G>C (p.Val517=) c.1572G>C (p.Val524=) | |
| 12 | g.56004940G= | CA2038198097 | SUOX | c.1551G= (p.Val517=) c.1572G= (p.Val524=) | |
| 12 | g.56004940G>T | CA480180147 | SUOX | c.1551G>T (p.Val517=) c.1572G>T (p.Val524=) | dbSNP |
| 12 | g.56004941C>A | CA385298203 | SUOX | c.1552C>A (p.Gln518Lys) c.1573C>A (p.Gln525Lys) | |
| 12 | g.56004941C>G | CA385298196 | SUOX | c.1552C>G (p.Gln518Glu) c.1573C>G (p.Gln525Glu) | |
| 12 | g.56004941C>T | CA385298210 | SUOX | c.1552C>T (p.Gln518Ter) c.1573C>T (p.Gln525Ter) | ClinVar |
| 12 | g.56004942A= | CA2038198098 | SUOX | c.1553A= (p.Gln518=) c.1574A= (p.Gln525=) | |
| 12 | g.56004942A>C | CA385298219 | SUOX | c.1553A>C (p.Gln518Pro) c.1574A>C (p.Gln525Pro) | |
| 12 | g.56004942A>G | CA6621177 | SUOX | c.1553A>G (p.Gln518Arg) c.1574A>G (p.Gln525Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004942A>T | CA385298234 | SUOX | c.1553A>T (p.Gln518Leu) c.1574A>T (p.Gln525Leu) | |
| 12 | g.56004943G>A | CA480180148 | SUOX | c.1554G>A (p.Gln518=) c.1575G>A (p.Gln525=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004943G>C | CA385298239 | SUOX | c.1554G>C (p.Gln518His) c.1575G>C (p.Gln525His) | |
| 12 | g.56004943G= | CA2038198099 | SUOX | c.1554G= (p.Gln518=) c.1575G= (p.Gln525=) | |
| 12 | g.56004943G>T | CA385298240 | SUOX | c.1554G>T (p.Gln518His) c.1575G>T (p.Gln525His) | |
| 12 | g.56004944C>A | CA6621178 | SUOX | c.1555C>A (p.Pro519Thr) c.1576C>A (p.Pro526Thr) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004944C= | CA2038198100 | SUOX | c.1555C= (p.Pro519=) c.1576C= (p.Pro526=) | |
| 12 | g.56004944C>G | CA385298248 | SUOX | c.1555C>G (p.Pro519Ala) c.1576C>G (p.Pro526Ala) | |
| 12 | g.56004944C>T | CA385298243 | SUOX | c.1555C>T (p.Pro519Ser) c.1576C>T (p.Pro526Ser) | |
| 12 | g.56004945C>A | CA385298275 | SUOX | c.1556C>A (p.Pro519Gln) c.1577C>A (p.Pro526Gln) | COSMIC |
| 12 | g.56004945C>G | CA385298281 | SUOX | c.1556C>G (p.Pro519Arg) c.1577C>G (p.Pro526Arg) | ClinVar dbSNP |
| 12 | g.56004945C>T | CA385298283 | SUOX | c.1556C>T (p.Pro519Leu) c.1577C>T (p.Pro526Leu) | |
| 12 | g.56004946A>C | CA480180153 | SUOX | c.1557A>C (p.Pro519=) c.1578A>C (p.Pro526=) | |
| 12 | g.56004946A>G | CA480180152 | SUOX | c.1557A>G (p.Pro519=) c.1578A>G (p.Pro526=) | |
| 12 | g.56004946A>T | CA480180151 | SUOX | c.1557A>T (p.Pro519=) c.1578A>T (p.Pro526=) | |
| 12 | g.56004947G>A | CA385298284 | SUOX | c.1558G>A (p.Asp520Asn) c.1579G>A (p.Asp527Asn) | |
| 12 | g.56004947G>C | CA385298285 | SUOX | c.1558G>C (p.Asp520His) c.1579G>C (p.Asp527His) | |
| 12 | g.56004947G>T | CA385298287 | SUOX | c.1558G>T (p.Asp520Tyr) c.1579G>T (p.Asp527Tyr) | |
| 12 | g.56004948A>C | CA385298291 | SUOX | c.1559A>C (p.Asp520Ala) c.1580A>C (p.Asp527Ala) | |
| 12 | g.56004948A>G | CA385298310 | SUOX | c.1559A>G (p.Asp520Gly) c.1580A>G (p.Asp527Gly) | |
| 12 | g.56004948A>T | CA385298302 | SUOX | c.1559A>T (p.Asp520Val) c.1580A>T (p.Asp527Val) | gnomAD v4 |
| 12 | g.56004949C>A | CA385298315 | SUOX | c.1560C>A (p.Asp520Glu) c.1581C>A (p.Asp527Glu) | |
| 12 | g.56004949C= | CA2038198101 | SUOX | c.1560C= (p.Asp520=) c.1581C= (p.Asp527=) | |
| 12 | g.56004949C>G | CA6621179 | SUOX | c.1560C>G (p.Asp520Glu) c.1581C>G (p.Asp527Glu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.56004949C>T | CA480180155 | SUOX | c.1560C>T (p.Asp520=) c.1581C>T (p.Asp527=) | |
| 12 | g.56004950A>C | CA385298323 | SUOX | c.1561A>C (p.Thr521Pro) c.1582A>C (p.Thr528Pro) | |
| 12 | g.56004950A>G | CA385298325 | SUOX | c.1561A>G (p.Thr521Ala) c.1582A>G (p.Thr528Ala) | |
| 12 | g.56004950A>T | CA385298330 | SUOX | c.1561A>T (p.Thr521Ser) c.1582A>T (p.Thr528Ser) | |
| 12 | g.56004951C>A | CA385298337 | SUOX | c.1562C>A (p.Thr521Asn) c.1583C>A (p.Thr528Asn) | gnomAD v4 |
| 12 | g.56004951C>G | CA385298341 | SUOX | c.1562C>G (p.Thr521Ser) c.1583C>G (p.Thr528Ser) | |
| 12 | g.56004951C>T | CA385298342 | SUOX | c.1562C>T (p.Thr521Ile) c.1583C>T (p.Thr528Ile) | |
| 12 | g.56004952C>A | CA6621181 | SUOX | c.1563C>A (p.Thr521=) c.1584C>A (p.Thr528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004952C= | CA2038198102 | SUOX | c.1563C= (p.Thr521=) c.1584C= (p.Thr528=) | |
| 12 | g.56004952C>G | CA480180159 | SUOX | c.1563C>G (p.Thr521=) c.1584C>G (p.Thr528=) | |
| 12 | g.56004952C>T | CA6621180 | SUOX | c.1563C>T (p.Thr521=) c.1584C>T (p.Thr528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.56004953G>A | CA6621182 | SUOX | c.1564G>A (p.Val522Met) c.1585G>A (p.Val529Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004953G>C | CA385298366 | SUOX | c.1564G>C (p.Val522Leu) c.1585G>C (p.Val529Leu) | gnomAD v4 |
| 12 | g.56004953G= | CA2038198103 | SUOX | c.1564G= (p.Val522=) c.1585G= (p.Val529=) | |
| 12 | g.56004953G>T | CA385298361 | SUOX | c.1564G>T (p.Val522Leu) c.1585G>T (p.Val529Leu) | |
| 12 | g.56004954_56004955del | CA2726241797 | SUOX | c.1565_1566del (p.Val522GlyfsTer?) c.1586_1587del (p.Val529GlyfsTer?) | dbSNP |
| 12 | g.56004954T>A | CA385298380 | SUOX | c.1565T>A (p.Val522Glu) c.1586T>A (p.Val529Glu) | |
| 12 | g.56004954T>C | CA385298383 | SUOX | c.1565T>C (p.Val522Ala) c.1586T>C (p.Val529Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004954T>G | CA385298391 | SUOX | c.1565T>G (p.Val522Gly) c.1586T>G (p.Val529Gly) | |
| 12 | g.56004955G>A | CA6621183 | SUOX | c.1566G>A (p.Val522=) c.1587G>A (p.Val529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004955G>C | CA480180162 | SUOX | c.1566G>C (p.Val522=) c.1587G>C (p.Val529=) | |
| 12 | g.56004955G= | CA2038198104 | SUOX | c.1566G= (p.Val522=) c.1587G= (p.Val529=) | |
| 12 | g.56004955G>T | CA480180163 | SUOX | c.1566G>T (p.Val522=) c.1587G>T (p.Val529=) | gnomAD v4 |
| 12 | g.56004956G>A | CA385298413 | SUOX | c.1567G>A (p.Ala523Thr) c.1588G>A (p.Ala530Thr) | gnomAD v4 |
| 12 | g.56004956G>C | CA385298414 | SUOX | c.1567G>C (p.Ala523Pro) c.1588G>C (p.Ala530Pro) | |
| 12 | g.56004956G>T | CA385298428 | SUOX | c.1567G>T (p.Ala523Ser) c.1588G>T (p.Ala530Ser) | |
| 12 | g.56004957C>A | CA385298431 | SUOX | c.1568C>A (p.Ala523Asp) c.1589C>A (p.Ala530Asp) | |
| 12 | g.56004957C>G | CA385298433 | SUOX | c.1568C>G (p.Ala523Gly) c.1589C>G (p.Ala530Gly) | |
| 12 | g.56004957C>T | CA385298437 | SUOX | c.1568C>T (p.Ala523Val) c.1589C>T (p.Ala530Val) | |
| 12 | g.56004958C>A | CA480180164 | SUOX | c.1569C>A (p.Ala523=) c.1590C>A (p.Ala530=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004958C= | CA2038198105 | SUOX | c.1569C= (p.Ala523=) c.1590C= (p.Ala530=) | |
| 12 | g.56004958C>G | CA480180167 | SUOX | c.1569C>G (p.Ala523=) c.1590C>G (p.Ala530=) | gnomAD v4 |
| 12 | g.56004958C>T | CA480180166 | SUOX | c.1569C>T (p.Ala523=) c.1590C>T (p.Ala530=) | |
| 12 | g.56004959C>A | CA385298447 | SUOX | c.1570C>A (p.Pro524Thr) c.1591C>A (p.Pro531Thr) | |
| 12 | g.56004959C>G | CA385298462 | SUOX | c.1570C>G (p.Pro524Ala) c.1591C>G (p.Pro531Ala) | |
| 12 | g.56004959C>T | CA385298481 | SUOX | c.1570C>T (p.Pro524Ser) c.1591C>T (p.Pro531Ser) | gnomAD v4 |
| 12 | g.56004960C>A | CA385298496 | SUOX | c.1571C>A (p.Pro524Gln) c.1592C>A (p.Pro531Gln) | |
| 12 | g.56004960C= | CA2038198106 | SUOX | c.1571C= (p.Pro524=) c.1592C= (p.Pro531=) | |
| 12 | g.56004960C>G | CA385298488 | SUOX | c.1571C>G (p.Pro524Arg) c.1592C>G (p.Pro531Arg) | |
| 12 | g.56004960C>T | CA385298492 | SUOX | c.1571C>T (p.Pro524Leu) c.1592C>T (p.Pro531Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004961A>C | CA480180168 | SUOX | c.1572A>C (p.Pro524=) c.1593A>C (p.Pro531=) | |
| 12 | g.56004961A>G | CA480180169 | SUOX | c.1572A>G (p.Pro524=) c.1593A>G (p.Pro531=) | |
| 12 | g.56004961A>T | CA480180170 | SUOX | c.1572A>T (p.Pro524=) c.1593A>T (p.Pro531=) | gnomAD v4 |
| 12 | g.56004962A= | CA2038198107 | SUOX | c.1573A= (p.Ile525=) c.1594A= (p.Ile532=) | |
| 12 | g.56004962A>C | CA385298501 | SUOX | c.1573A>C (p.Ile525Leu) c.1594A>C (p.Ile532Leu) | |
| 12 | g.56004962A>G | CA237605366 | SUOX | c.1573A>G (p.Ile525Val) c.1594A>G (p.Ile532Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004962A>T | CA385298515 | SUOX | c.1573A>T (p.Ile525Phe) c.1594A>T (p.Ile532Phe) | |
| 12 | g.56004963T>A | CA385298526 | SUOX | c.1574T>A (p.Ile525Asn) c.1595T>A (p.Ile532Asn) | |
| 12 | g.56004963T>C | CA6621184 | SUOX | c.1574T>C (p.Ile525Thr) c.1595T>C (p.Ile532Thr) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004963T>G | CA385298535 | SUOX | c.1574T>G (p.Ile525Ser) c.1595T>G (p.Ile532Ser) | |
| 12 | g.56004963T= | CA2038198108 | SUOX | c.1574T= (p.Ile525=) c.1595T= (p.Ile532=) | |
| 12 | g.56004964C>A | CA480180176 | SUOX | c.1575C>A (p.Ile525=) c.1596C>A (p.Ile532=) | |
| 12 | g.56004964C>G | CA385298538 | SUOX | c.1575C>G (p.Ile525Met) c.1596C>G (p.Ile532Met) | |
| 12 | g.56004964C>T | CA480180179 | SUOX | c.1575C>T (p.Ile525=) c.1596C>T (p.Ile532=) | |
| 12 | g.56004965T>A | CA385298544 | SUOX | c.1576T>A (p.Trp526Arg) c.1597T>A (p.Trp533Arg) | |
| 12 | g.56004965T>C | CA385298553 | SUOX | c.1576T>C (p.Trp526Arg) c.1597T>C (p.Trp533Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004965T>G | CA385298574 | SUOX | c.1576T>G (p.Trp526Gly) c.1597T>G (p.Trp533Gly) | |
| 12 | g.56004965T= | CA2038198109 | SUOX | c.1576T= (p.Trp526=) c.1597T= (p.Trp533=) | |
| 12 | g.56004966G>A | CA385298576 | SUOX | c.1577G>A (p.Trp526Ter) c.1598G>A (p.Trp533Ter) | gnomAD v4 |
| 12 | g.56004966G>C | CA385298577 | SUOX | c.1577G>C (p.Trp526Ser) c.1598G>C (p.Trp533Ser) | |
| 12 | g.56004966G>T | CA385298581 | SUOX | c.1577G>T (p.Trp526Leu) c.1598G>T (p.Trp533Leu) | |
| 12 | g.56004967G>A | CA385298600 | SUOX | c.1578G>A (p.Trp526Ter) c.1599G>A (p.Trp533Ter) | ClinVar |
| 12 | g.56004967G>C | CA385298603 | SUOX | c.1578G>C (p.Trp526Cys) c.1599G>C (p.Trp533Cys) | gnomAD v4 |
| 12 | g.56004967G>T | CA385298591 | SUOX | c.1578G>T (p.Trp526Cys) c.1599G>T (p.Trp533Cys) | |
| 12 | g.56004968A>C | CA385298606 | SUOX | c.1579A>C (p.Asn527His) c.1600A>C (p.Asn534His) | |
| 12 | g.56004968A>G | CA385298608 | SUOX | c.1579A>G (p.Asn527Asp) c.1600A>G (p.Asn534Asp) | |
| 12 | g.56004968A>T | CA385298618 | SUOX | c.1579A>T (p.Asn527Tyr) c.1600A>T (p.Asn534Tyr) | |
| 12 | g.56004969A>C | CA385298623 | SUOX | c.1580A>C (p.Asn527Thr) c.1601A>C (p.Asn534Thr) | |
| 12 | g.56004969A>G | CA385298624 | SUOX | c.1580A>G (p.Asn527Ser) c.1601A>G (p.Asn534Ser) | |
| 12 | g.56004969A>T | CA385298625 | SUOX | c.1580A>T (p.Asn527Ile) c.1601A>T (p.Asn534Ile) | |
| 12 | g.56004970C>A | CA385298634 | SUOX | c.1581C>A (p.Asn527Lys) c.1602C>A (p.Asn534Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004970C= | CA2038198110 | SUOX | c.1581C= (p.Asn527=) c.1602C= (p.Asn534=) | |
| 12 | g.56004970C>G | CA385298638 | SUOX | c.1581C>G (p.Asn527Lys) c.1602C>G (p.Asn534Lys) | |
| 12 | g.56004970C>T | CA480180196 | SUOX | c.1581C>T (p.Asn527=) c.1602C>T (p.Asn534=) | |
| 12 | g.56004971C>A | CA385298656 | SUOX | c.1582C>A (p.Leu528Met) c.1603C>A (p.Leu535Met) | |
| 12 | g.56004971C= | CA2038198111 | SUOX | c.1582C= (p.Leu528=) c.1603C= (p.Leu535=) | |
| 12 | g.56004971C>G | CA385298659 | SUOX | c.1582C>G (p.Leu528Val) c.1603C>G (p.Leu535Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004971C>T | CA480180200 | SUOX | c.1582C>T (p.Leu528=) c.1603C>T (p.Leu535=) | |
| 12 | g.56004972T>A | CA385298669 | SUOX | c.1583T>A (p.Leu528Gln) c.1604T>A (p.Leu535Gln) | |
| 12 | g.56004972T>C | CA385298671 | SUOX | c.1583T>C (p.Leu528Pro) c.1604T>C (p.Leu535Pro) | ClinVar dbSNP |
| 12 | g.56004972T>G | CA385298672 | SUOX | c.1583T>G (p.Leu528Arg) c.1604T>G (p.Leu535Arg) | |
| 12 | g.56004972T= | CA2038198112 | SUOX | c.1583T= (p.Leu528=) c.1604T= (p.Leu535=) | |
| 12 | g.56004973G>A | CA480180206 | SUOX | c.1584G>A (p.Leu528=) c.1605G>A (p.Leu535=) | dbSNP |
| 12 | g.56004973G>C | CA480180205 | SUOX | c.1584G>C (p.Leu528=) c.1605G>C (p.Leu535=) | |
| 12 | g.56004973G= | CA2038198113 | SUOX | c.1584G= (p.Leu528=) c.1605G= (p.Leu535=) | |
| 12 | g.56004973G>T | CA480180208 | SUOX | c.1584G>T (p.Leu528=) c.1605G>T (p.Leu535=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004974C>A | CA480180210 | SUOX | c.1585C>A (p.Arg529=) c.1606C>A (p.Arg536=) | |
| 12 | g.56004974C= | CA2038198114 | SUOX | c.1585C= (p.Arg529=) c.1606C= (p.Arg536=) | |
| 12 | g.56004974C>G | CA385298674 | SUOX | c.1585C>G (p.Arg529Gly) c.1606C>G (p.Arg536Gly) | |
| 12 | g.56004974C>T | CA6621185 | SUOX | c.1585C>T (p.Arg529Ter) c.1606C>T (p.Arg536Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004975G>A | CA6621186 | SUOX | c.1586G>A (p.Arg529Gln) c.1607G>A (p.Arg536Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004975G>C | CA385298694 | SUOX | c.1586G>C (p.Arg529Pro) c.1607G>C (p.Arg536Pro) | |
| 12 | g.56004975G= | CA2038198115 | SUOX | c.1586G= (p.Arg529=) c.1607G= (p.Arg536=) | |
| 12 | g.56004975G>T | CA385298689 | SUOX | c.1586G>T (p.Arg529Leu) c.1607G>T (p.Arg536Leu) | |
| 12 | g.56004976A>C | CA480180219 | SUOX | c.1587A>C (p.Arg529=) c.1608A>C (p.Arg536=) | |
| 12 | g.56004976A>G | CA480180221 | SUOX | c.1587A>G (p.Arg529=) c.1608A>G (p.Arg536=) | |
| 12 | g.56004976A>T | CA480180222 | SUOX | c.1587A>T (p.Arg529=) c.1608A>T (p.Arg536=) | |
| 12 | g.56004977G>A | CA385298707 | SUOX | c.1588G>A (p.Gly530Ser) c.1609G>A (p.Gly537Ser) | gnomAD v4 |
| 12 | g.56004977G>C | CA385298710 | SUOX | c.1588G>C (p.Gly530Arg) c.1609G>C (p.Gly537Arg) | |
| 12 | g.56004977G>T | CA385298712 | SUOX | c.1588G>T (p.Gly530Cys) c.1609G>T (p.Gly537Cys) | |
| 12 | g.56004978G>A | CA116471 | SUOX | c.1589G>A (p.Gly530Asp) c.1610G>A (p.Gly537Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004978G>C | CA385298719 | SUOX | c.1589G>C (p.Gly530Ala) c.1610G>C (p.Gly537Ala) | |
| 12 | g.56004978G= | CA2038198116 | SUOX | c.1589G= (p.Gly530=) c.1610G= (p.Gly537=) | |
| 12 | g.56004978G>T | CA385298720 | SUOX | c.1589G>T (p.Gly530Val) c.1610G>T (p.Gly537Val) | gnomAD v4 |
| 12 | g.56004979T>A | CA480180229 | SUOX | c.1590T>A (p.Gly530=) c.1611T>A (p.Gly537=) | |
| 12 | g.56004979T>C | CA480180231 | SUOX | c.1590T>C (p.Gly530=) c.1611T>C (p.Gly537=) | dbSNP |
| 12 | g.56004979T>G | CA480180232 | SUOX | c.1590T>G (p.Gly530=) c.1611T>G (p.Gly537=) | |
| 12 | g.56004979T= | CA2038198117 | SUOX | c.1590T= (p.Gly530=) c.1611T= (p.Gly537=) | |
| 12 | g.56004980G>A | CA6621187 | SUOX | c.1591G>A (p.Val531Ile) c.1612G>A (p.Val538Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004980G>C | CA385298725 | SUOX | c.1591G>C (p.Val531Leu) c.1612G>C (p.Val538Leu) | |
| 12 | g.56004980G= | CA2038198118 | SUOX | c.1591G= (p.Val531=) c.1612G= (p.Val538=) | |
| 12 | g.56004980G>T | CA385298727 | SUOX | c.1591G>T (p.Val531Phe) c.1612G>T (p.Val538Phe) | |
| 12 | g.56004981T>A | CA6621188 | SUOX | c.1592T>A (p.Val531Asp) c.1613T>A (p.Val538Asp) | dbSNP ExAC |
| 12 | g.56004981T>C | CA385298731 | SUOX | c.1592T>C (p.Val531Ala) c.1613T>C (p.Val538Ala) | |
| 12 | g.56004981T>G | CA385298738 | SUOX | c.1592T>G (p.Val531Gly) c.1613T>G (p.Val538Gly) | |
| 12 | g.56004981T= | CA2038198119 | SUOX | c.1592T= (p.Val531=) c.1613T= (p.Val538=) | |
| 12 | g.56004982T>A | CA480180241 | SUOX | c.1593T>A (p.Val531=) c.1614T>A (p.Val538=) | |
| 12 | g.56004982T>C | CA480180243 | SUOX | c.1593T>C (p.Val531=) c.1614T>C (p.Val538=) | |
| 12 | g.56004982T>G | CA480180244 | SUOX | c.1593T>G (p.Val531=) c.1614T>G (p.Val538=) | ClinVar dbSNP |
| 12 | g.56004982T= | CA2038198120 | SUOX | c.1593T= (p.Val531=) c.1614T= (p.Val538=) | |
| 12 | g.56004983C>A | CA385298760 | SUOX | c.1594C>A (p.Leu532Ile) c.1615C>A (p.Leu539Ile) | gnomAD v4 |
| 12 | g.56004983C= | CA2038198121 | SUOX | c.1594C= (p.Leu532=) c.1615C= (p.Leu539=) | |
| 12 | g.56004983C>G | CA385298745 | SUOX | c.1594C>G (p.Leu532Val) c.1615C>G (p.Leu539Val) | |
| 12 | g.56004983C>T | CA237605372 | SUOX | c.1594C>T (p.Leu532Phe) c.1615C>T (p.Leu539Phe) | dbSNP |