| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56833308del | CA2633366288 | NUP93 | c.1439del (p.Phe480SerfsTer13) c.1070del (p.Phe357SerfsTer13) n.681del | gnomAD v4 |
| 16 | g.56833307T>A | CA395990085 | NUP93 | c.1438T>A (p.Phe480Ile) c.1069T>A (p.Phe357Ile) n.680T>A | |
| 16 | g.56833307T>C | CA395990089 | NUP93 | c.1438T>C (p.Phe480Leu) c.1069T>C (p.Phe357Leu) n.680T>C | |
| 16 | g.56833307T>G | CA395990087 | NUP93 | c.1438T>G (p.Phe480Val) c.1069T>G (p.Phe357Val) n.680T>G | |
| 16 | g.56833308T>A | CA395990092 | NUP93 | c.1439T>A (p.Phe480Tyr) c.1070T>A (p.Phe357Tyr) n.681T>A | |
| 16 | g.56833308T>C | CA395990093 | NUP93 | c.1439T>C (p.Phe480Ser) c.1070T>C (p.Phe357Ser) n.681T>C | |
| 16 | g.56833308T>G | CA395990096 | NUP93 | c.1439T>G (p.Phe480Cys) c.1070T>G (p.Phe357Cys) n.681T>G | |
| 16 | g.56833309C>A | CA395990100 | NUP93 | c.1440C>A (p.Phe480Leu) c.1071C>A (p.Phe357Leu) n.682C>A | |
| 16 | g.56833309C= | CA2224332230 | NUP93 | c.1440C= (p.Phe480=) c.1071C= (p.Phe357=) n.682C= | |
| 16 | g.56833309C>G | CA395990102 | NUP93 | c.1440C>G (p.Phe480Leu) c.1071C>G (p.Phe357Leu) n.682C>G | |
| 16 | g.56833309C>T | CA495600384 | NUP93 | c.1440C>T (p.Phe480=) c.1071C>T (p.Phe357=) n.682C>T | dbSNP |
| 16 | g.56833310C>A | CA395990104 | NUP93 | c.1441C>A (p.Arg481Ser) c.1072C>A (p.Arg358Ser) n.683C>A | gnomAD v4 |
| 16 | g.56833310C= | CA2224332231 | NUP93 | c.1441C= (p.Arg481=) c.1072C= (p.Arg358=) n.683C= | |
| 16 | g.56833310C>G | CA395990106 | NUP93 | c.1441C>G (p.Arg481Gly) c.1072C>G (p.Arg358Gly) n.683C>G | |
| 16 | g.56833310C>T | CA8068428 | NUP93 | c.1441C>T (p.Arg481Cys) c.1072C>T (p.Arg358Cys) n.683C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56833311G>A | CA8068429 | NUP93 | c.1442G>A (p.Arg481His) c.1073G>A (p.Arg358His) n.684G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56833311G>C | CA395990112 | NUP93 | c.1442G>C (p.Arg481Pro) c.1073G>C (p.Arg358Pro) n.684G>C | |
| 16 | g.56833311G= | CA2224332232 | NUP93 | c.1442G= (p.Arg481=) c.1073G= (p.Arg358=) n.684G= | |
| 16 | g.56833311G>T | CA395990114 | NUP93 | c.1442G>T (p.Arg481Leu) c.1073G>T (p.Arg358Leu) n.684G>T | gnomAD v4 |
| 16 | g.56833312C>A | CA495600386 | NUP93 | c.1443C>A (p.Arg481=) c.1074C>A (p.Arg358=) n.685C>A | |
| 16 | g.56833312C>G | CA495600387 | NUP93 | c.1443C>G (p.Arg481=) c.1074C>G (p.Arg358=) n.685C>G | |
| 16 | g.56833312C>T | CA495600388 | NUP93 | c.1443C>T (p.Arg481=) c.1074C>T (p.Arg358=) n.685C>T | |
| 16 | g.56833313A= | CA2224332233 | NUP93 | c.1444A= (p.Met482=) c.1075A= (p.Met359=) n.686A= | |
| 16 | g.56833313A>C | CA395990116 | NUP93 | c.1444A>C (p.Met482Leu) c.1075A>C (p.Met359Leu) n.686A>C | |
| 16 | g.56833313A>G | CA395990121 | NUP93 | c.1444A>G (p.Met482Val) c.1075A>G (p.Met359Val) n.686A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56833313A>T | CA395990119 | NUP93 | c.1444A>T (p.Met482Leu) c.1075A>T (p.Met359Leu) n.686A>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56833314T>A | CA395990124 | NUP93 | c.1445T>A (p.Met482Lys) c.1076T>A (p.Met359Lys) n.687T>A | |
| 16 | g.56833314T>C | CA281497190 | NUP93 | c.1445T>C (p.Met482Thr) c.1076T>C (p.Met359Thr) n.687T>C | dbSNP gnomAD v4 |
| 16 | g.56833314T>G | CA395990126 | NUP93 | c.1445T>G (p.Met482Arg) c.1076T>G (p.Met359Arg) n.687T>G | |
| 16 | g.56833314T= | CA2224332234 | NUP93 | c.1445T= (p.Met482=) c.1076T= (p.Met359=) n.687T= | |
| 16 | g.56833315G>A | CA395990129 | NUP93 | c.1446G>A (p.Met482Ile) c.1077G>A (p.Met359Ile) n.688G>A | |
| 16 | g.56833315G>C | CA395990131 | NUP93 | c.1446G>C (p.Met482Ile) c.1077G>C (p.Met359Ile) n.688G>C | |
| 16 | g.56833315G>T | CA395990132 | NUP93 | c.1446G>T (p.Met482Ile) c.1077G>T (p.Met359Ile) n.688G>T | |
| 16 | g.56833316G>A | CA395990133 | NUP93 | c.1447G>A (p.Glu483Lys) c.1078G>A (p.Glu360Lys) n.689G>A | |
| 16 | g.56833316G>C | CA395990134 | NUP93 | c.1447G>C (p.Glu483Gln) c.1078G>C (p.Glu360Gln) n.689G>C | |
| 16 | g.56833316G>T | CA395990135 | NUP93 | c.1447G>T (p.Glu483Ter) c.1078G>T (p.Glu360Ter) n.689G>T | |
| 16 | g.56833317A>C | CA395990140 | NUP93 | c.1448A>C (p.Glu483Ala) c.1079A>C (p.Glu360Ala) n.690A>C | |
| 16 | g.56833317A>G | CA395990142 | NUP93 | c.1448A>G (p.Glu483Gly) c.1079A>G (p.Glu360Gly) n.690A>G | |
| 16 | g.56833317A>T | CA395990138 | NUP93 | c.1448A>T (p.Glu483Val) c.1079A>T (p.Glu360Val) n.690A>T | |
| 16 | g.56833318G>A | CA495600389 | NUP93 | c.1449G>A (p.Glu483=) c.1080G>A (p.Glu360=) n.691G>A | |
| 16 | g.56833318G>C | CA395990145 | NUP93 | c.1449G>C (p.Glu483Asp) c.1080G>C (p.Glu360Asp) n.691G>C | |
| 16 | g.56833318G>T | CA395990146 | NUP93 | c.1449G>T (p.Glu483Asp) c.1080G>T (p.Glu360Asp) n.691G>T | |
| 16 | g.56833319C>A | CA495600390 | NUP93 | c.1450C>A (p.Arg484=) c.1081C>A (p.Arg361=) n.692C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56833319C= | CA2224332235 | NUP93 | c.1450C= (p.Arg484=) c.1081C= (p.Arg361=) n.692C= | |
| 16 | g.56833319C>G | CA395990149 | NUP93 | c.1450C>G (p.Arg484Gly) c.1081C>G (p.Arg361Gly) n.692C>G | |
| 16 | g.56833319C>T | CA8068430 | NUP93 | c.1450C>T (p.Arg484Trp) c.1081C>T (p.Arg361Trp) n.692C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56833320G>A | CA395990155 | NUP93 | c.1451G>A (p.Arg484Gln) c.1082G>A (p.Arg361Gln) n.693G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56833320G>C | CA395990157 | NUP93 | c.1451G>C (p.Arg484Pro) c.1082G>C (p.Arg361Pro) n.693G>C | |
| 16 | g.56833320G= | CA2224332236 | NUP93 | c.1451G= (p.Arg484=) c.1082G= (p.Arg361=) n.693G= | |
| 16 | g.56833320G>T | CA395990159 | NUP93 | c.1451G>T (p.Arg484Leu) c.1082G>T (p.Arg361Leu) n.693G>T |