Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
16 | g.56833321G>A | CA495600394 | NUP93 | c.1452G>A (p.Arg484=) c.1083G>A (p.Arg361=) n.694G>A | gnomAD v4 |
16 | g.56833321G>C | CA495600393 | NUP93 | c.1452G>C (p.Arg484=) c.1083G>C (p.Arg361=) n.694G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833321G= | CA2224332237 | NUP93 | c.1452G= (p.Arg484=) c.1083G= (p.Arg361=) n.694G= | |
16 | g.56833321G>T | CA495600392 | NUP93 | c.1452G>T (p.Arg484=) c.1083G>T (p.Arg361=) n.694G>T | gnomAD v4 |
16 | g.56833322C>A | CA395990161 | NUP93 | c.1453C>A (p.Leu485Met) c.1084C>A (p.Leu362Met) n.695C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833322C= | CA2224332238 | NUP93 | c.1453C= (p.Leu485=) c.1084C= (p.Leu362=) n.695C= | |
16 | g.56833322C>G | CA395990162 | NUP93 | c.1453C>G (p.Leu485Val) c.1084C>G (p.Leu362Val) n.695C>G | |
16 | g.56833322C>T | CA495600395 | NUP93 | c.1453C>T (p.Leu485=) c.1084C>T (p.Leu362=) n.695C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833323T>A | CA395990163 | NUP93 | c.1454T>A (p.Leu485Gln) c.1085T>A (p.Leu362Gln) n.696T>A | |
16 | g.56833323T>C | CA395990164 | NUP93 | c.1454T>C (p.Leu485Pro) c.1085T>C (p.Leu362Pro) n.696T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833323T>G | CA395990165 | NUP93 | c.1454T>G (p.Leu485Arg) c.1085T>G (p.Leu362Arg) n.696T>G | |
16 | g.56833323T= | CA2224332239 | NUP93 | c.1454T= (p.Leu485=) c.1085T= (p.Leu362=) n.696T= | |
16 | g.56833324G>A | CA495600396 | NUP93 | c.1455G>A (p.Leu485=) c.1086G>A (p.Leu362=) n.697G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833324G>C | CA495600397 | NUP93 | c.1455G>C (p.Leu485=) c.1086G>C (p.Leu362=) n.697G>C | |
16 | g.56833324G= | CA2224332240 | NUP93 | c.1455G= (p.Leu485=) c.1086G= (p.Leu362=) n.697G= | |
16 | g.56833324G>T | CA495600398 | NUP93 | c.1455G>T (p.Leu485=) c.1086G>T (p.Leu362=) n.697G>T | |
16 | g.56833325C>A | CA395990168 | NUP93 | c.1456C>A (p.Arg486Ser) c.1087C>A (p.Arg363Ser) n.698C>A | |
16 | g.56833325C= | CA2224332241 | NUP93 | c.1456C= (p.Arg486=) c.1087C= (p.Arg363=) n.698C= | |
16 | g.56833325C>G | CA395990166 | NUP93 | c.1456C>G (p.Arg486Gly) c.1087C>G (p.Arg363Gly) n.698C>G | |
16 | g.56833325C>T | CA8068431 | NUP93 | c.1456C>T (p.Arg486Cys) c.1087C>T (p.Arg363Cys) n.698C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56833326G>A | CA8068432 | NUP93 | c.1457G>A (p.Arg486His) c.1088G>A (p.Arg363His) n.699G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56833326G>C | CA395990172 | NUP93 | c.1457G>C (p.Arg486Pro) c.1088G>C (p.Arg363Pro) n.699G>C | |
16 | g.56833326G= | CA2224332242 | NUP93 | c.1457G= (p.Arg486=) c.1088G= (p.Arg363=) n.699G= | |
16 | g.56833326G>T | CA395990174 | NUP93 | c.1457G>T (p.Arg486Leu) c.1088G>T (p.Arg363Leu) n.699G>T | |
16 | g.56833327C>A | CA495600399 | NUP93 | c.1458C>A (p.Arg486=) c.1089C>A (p.Arg363=) n.700C>A | |
16 | g.56833327C= | CA2224332243 | NUP93 | c.1458C= (p.Arg486=) c.1089C= (p.Arg363=) n.700C= | |
16 | g.56833327C>G | CA495600400 | NUP93 | c.1458C>G (p.Arg486=) c.1089C>G (p.Arg363=) n.700C>G | |
16 | g.56833327C>T | CA8068433 | NUP93 | c.1458C>T (p.Arg486=) c.1089C>T (p.Arg363=) n.700C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833328T>A | CA395990178 | NUP93 | c.1459T>A (p.Cys487Ser) c.1090T>A (p.Cys364Ser) n.701T>A | |
16 | g.56833328T>C | CA395990180 | NUP93 | c.1459T>C (p.Cys487Arg) c.1090T>C (p.Cys364Arg) n.701T>C | gnomAD v4 |
16 | g.56833328T>G | CA395990182 | NUP93 | c.1459T>G (p.Cys487Gly) c.1090T>G (p.Cys364Gly) n.701T>G | |
16 | g.56833329G>A | CA395990184 | NUP93 | c.1460G>A (p.Cys487Tyr) c.1091G>A (p.Cys364Tyr) n.702G>A | gnomAD v4 |
16 | g.56833329G>C | CA395990186 | NUP93 | c.1460G>C (p.Cys487Ser) c.1091G>C (p.Cys364Ser) n.702G>C | |
16 | g.56833329G>T | CA395990187 | NUP93 | c.1460G>T (p.Cys487Phe) c.1091G>T (p.Cys364Phe) n.702G>T | |
16 | g.56833330C>A | CA395990190 | NUP93 | c.1461C>A (p.Cys487Ter) c.1092C>A (p.Cys364Ter) n.703C>A | |
16 | g.56833330C= | CA2224332244 | NUP93 | c.1461C= (p.Cys487=) c.1092C= (p.Cys364=) n.703C= | |
16 | g.56833330C>G | CA395990191 | NUP93 | c.1461C>G (p.Cys487Trp) c.1092C>G (p.Cys364Trp) n.703C>G | gnomAD v4 |
16 | g.56833330C>T | CA8068434 | NUP93 | c.1461C>T (p.Cys487=) c.1092C>T (p.Cys364=) n.703C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833331C>A | CA395990197 | NUP93 | c.1462C>A (p.His488Asn) c.1093C>A (p.His365Asn) n.704C>A | |
16 | g.56833331C= | CA2224332245 | NUP93 | c.1462C= (p.His488=) c.1093C= (p.His365=) n.704C= | |
16 | g.56833331C>G | CA395990200 | NUP93 | c.1462C>G (p.His488Asp) c.1093C>G (p.His365Asp) n.704C>G | |
16 | g.56833331C>T | CA8068435 | NUP93 | c.1462C>T (p.His488Tyr) c.1093C>T (p.His365Tyr) n.704C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833332A= | CA2224332246 | NUP93 | c.1463A= (p.His488=) c.1094A= (p.His365=) n.705A= | |
16 | g.56833332A>C | CA395990208 | NUP93 | c.1463A>C (p.His488Pro) c.1094A>C (p.His365Pro) n.705A>C | gnomAD v4 |
16 | g.56833332A>G | CA395990204 | NUP93 | c.1463A>G (p.His488Arg) c.1094A>G (p.His365Arg) n.705A>G | ClinVar dbSNP gnomAD v4 |
16 | g.56833332A>T | CA395990206 | NUP93 | c.1463A>T (p.His488Leu) c.1094A>T (p.His365Leu) n.705A>T | |
16 | g.56833333T>A | CA281497210 | NUP93 | c.1464T>A (p.His488Gln) c.1095T>A (p.His365Gln) n.706T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833333T>C | CA495600401 | NUP93 | c.1464T>C (p.His488=) c.1095T>C (p.His365=) n.706T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833333T>G | CA395990210 | NUP93 | c.1464T>G (p.His488Gln) c.1095T>G (p.His365Gln) n.706T>G | |
16 | g.56833333T= | CA2224332247 | NUP93 | c.1464T= (p.His488=) c.1095T= (p.His365=) n.706T= | |
16 | g.56833334G>A | CA395990211 | NUP93 | c.1465G>A (p.Ala489Thr) c.1096G>A (p.Ala366Thr) n.707G>A | |
16 | g.56833334G>C | CA395990212 | NUP93 | c.1465G>C (p.Ala489Pro) c.1096G>C (p.Ala366Pro) n.707G>C | gnomAD v4 |
16 | g.56833334G>T | CA395990213 | NUP93 | c.1465G>T (p.Ala489Ser) c.1096G>T (p.Ala366Ser) n.707G>T | |
16 | g.56833335C>A | CA395990214 | NUP93 | c.1466C>A (p.Ala489Asp) c.1097C>A (p.Ala366Asp) n.708C>A | |
16 | g.56833335C= | CA2224332248 | NUP93 | c.1466C= (p.Ala489=) c.1097C= (p.Ala366=) n.708C= | |
16 | g.56833335C>G | CA395990215 | NUP93 | c.1466C>G (p.Ala489Gly) c.1097C>G (p.Ala366Gly) n.708C>G | |
16 | g.56833335C>T | CA395990216 | NUP93 | c.1466C>T (p.Ala489Val) c.1097C>T (p.Ala366Val) n.708C>T | gnomAD v4 |
16 | g.56833336T>A | CA495600404 | NUP93 | c.1467T>A (p.Ala489=) c.1098T>A (p.Ala366=) n.709T>A | |
16 | g.56833336T>C | CA495600403 | NUP93 | c.1467T>C (p.Ala489=) c.1098T>C (p.Ala366=) n.709T>C | gnomAD v4 |
16 | g.56833336T>G | CA495600402 | NUP93 | c.1467T>G (p.Ala489=) c.1098T>G (p.Ala366=) n.709T>G | |
16 | g.56833339_56833344dup | CA622338436 | NUP93 | c.1470_1475dup (p.Val492_Ala493insHisVal) c.1101_1106dup (p.Val369_Ala370insHisVal) n.712_717dup | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833337G>A | CA395990217 | NUP93 | c.1468G>A (p.Val490Ile) c.1099G>A (p.Val367Ile) n.710G>A | gnomAD v4 |
16 | g.56833337G>C | CA395990218 | NUP93 | c.1468G>C (p.Val490Leu) c.1099G>C (p.Val367Leu) n.710G>C | gnomAD v4 |
16 | g.56833337G>T | CA395990219 | NUP93 | c.1468G>T (p.Val490Phe) c.1099G>T (p.Val367Phe) n.710G>T | |
16 | g.56833338T>A | CA395990220 | NUP93 | c.1469T>A (p.Val490Asp) c.1100T>A (p.Val367Asp) n.711T>A | |
16 | g.56833338T>C | CA395990222 | NUP93 | c.1469T>C (p.Val490Ala) c.1100T>C (p.Val367Ala) n.711T>C | gnomAD v4 |
16 | g.56833338T>G | CA395990221 | NUP93 | c.1469T>G (p.Val490Gly) c.1100T>G (p.Val367Gly) n.711T>G | |
16 | g.56833339C>A | CA495600407 | NUP93 | c.1470C>A (p.Val490=) c.1101C>A (p.Val367=) n.712C>A | |
16 | g.56833339C= | CA2224332249 | NUP93 | c.1470C= (p.Val490=) c.1101C= (p.Val367=) n.712C= | |
16 | g.56833339C>G | CA495600406 | NUP93 | c.1470C>G (p.Val490=) c.1101C>G (p.Val367=) n.712C>G | gnomAD v4 |
16 | g.56833339C>T | CA495600405 | NUP93 | c.1470C>T (p.Val490=) c.1101C>T (p.Val367=) n.712C>T | dbSNP COSMIC |
16 | g.56833340C>A | CA395990223 | NUP93 | c.1471C>A (p.His491Asn) c.1102C>A (p.His368Asn) n.713C>A | |
16 | g.56833340C= | CA2224332250 | NUP93 | c.1471C= (p.His491=) c.1102C= (p.His368=) n.713C= | |
16 | g.56833340C>G | CA395990224 | NUP93 | c.1471C>G (p.His491Asp) c.1102C>G (p.His368Asp) n.713C>G | dbSNP |
16 | g.56833340C>T | CA395990225 | NUP93 | c.1471C>T (p.His491Tyr) c.1102C>T (p.His368Tyr) n.713C>T | |
16 | g.56833341A= | CA2224332251 | NUP93 | c.1472A= (p.His491=) c.1103A= (p.His368=) n.714A= | |
16 | g.56833341A>C | CA395990226 | NUP93 | c.1472A>C (p.His491Pro) c.1103A>C (p.His368Pro) n.714A>C | |
16 | g.56833341A>G | CA395990228 | NUP93 | c.1472A>G (p.His491Arg) c.1103A>G (p.His368Arg) n.714A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833341A>T | CA395990230 | NUP93 | c.1472A>T (p.His491Leu) c.1103A>T (p.His368Leu) n.714A>T | |
16 | g.56833342T>A | CA395990232 | NUP93 | c.1473T>A (p.His491Gln) c.1104T>A (p.His368Gln) n.715T>A | |
16 | g.56833342T>C | CA495600408 | NUP93 | c.1473T>C (p.His491=) c.1104T>C (p.His368=) n.715T>C | |
16 | g.56833342T>G | CA395990234 | NUP93 | c.1473T>G (p.His491Gln) c.1104T>G (p.His368Gln) n.715T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833342T= | CA2224332252 | NUP93 | c.1473T= (p.His491=) c.1104T= (p.His368=) n.715T= | |
16 | g.56833343G>A | CA395990237 | NUP93 | c.1474G>A (p.Val492Ile) c.1105G>A (p.Val369Ile) n.716G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833343G>C | CA395990238 | NUP93 | c.1474G>C (p.Val492Leu) c.1105G>C (p.Val369Leu) n.716G>C | |
16 | g.56833343G= | CA2224332253 | NUP93 | c.1474G= (p.Val492=) c.1105G= (p.Val369=) n.716G= | |
16 | g.56833343G>T | CA395990240 | NUP93 | c.1474G>T (p.Val492Leu) c.1105G>T (p.Val369Leu) n.716G>T | |
16 | g.56833344T>A | CA395990244 | NUP93 | c.1475T>A (p.Val492Glu) c.1106T>A (p.Val369Glu) n.717T>A | |
16 | g.56833344T>C | CA395990246 | NUP93 | c.1475T>C (p.Val492Ala) c.1106T>C (p.Val369Ala) n.717T>C | |
16 | g.56833344T>G | CA395990243 | NUP93 | c.1475T>G (p.Val492Gly) c.1106T>G (p.Val369Gly) n.717T>G | |
16 | g.56833345A= | CA2224332254 | NUP93 | c.1476A= (p.Val492=) c.1107A= (p.Val369=) n.718A= | |
16 | g.56833345A>C | CA495600409 | NUP93 | c.1476A>C (p.Val492=) c.1107A>C (p.Val369=) n.718A>C | gnomAD v4 |
16 | g.56833345A>G | CA8068437 | NUP93 | c.1476A>G (p.Val492=) c.1107A>G (p.Val369=) n.718A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833345A>T | CA8068436 | NUP93 | c.1476A>T (p.Val492=) c.1107A>T (p.Val369=) n.718A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833346G>A | CA395990252 | NUP93 | c.1477G>A (p.Ala493Thr) c.1108G>A (p.Ala370Thr) n.719G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833346G>C | CA395990253 | NUP93 | c.1477G>C (p.Ala493Pro) c.1108G>C (p.Ala370Pro) n.719G>C | |
16 | g.56833346G= | CA2224332255 | NUP93 | c.1477G= (p.Ala493=) c.1108G= (p.Ala370=) n.719G= | |
16 | g.56833346G>T | CA395990255 | NUP93 | c.1477G>T (p.Ala493Ser) c.1108G>T (p.Ala370Ser) n.719G>T | |
16 | g.56833347C>A | CA395990258 | NUP93 | c.1478C>A (p.Ala493Glu) c.1109C>A (p.Ala370Glu) n.720C>A | |
16 | g.56833347C= | CA2224332256 | NUP93 | c.1478C= (p.Ala493=) c.1109C= (p.Ala370=) n.720C= | |
16 | g.56833347C>G | CA395990259 | NUP93 | c.1478C>G (p.Ala493Gly) c.1109C>G (p.Ala370Gly) n.720C>G | |
16 | g.56833347C>T | CA395990261 | NUP93 | c.1478C>T (p.Ala493Val) c.1109C>T (p.Ala370Val) n.720C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833348A= | CA2224332257 | NUP93 | c.1479A= (p.Ala493=) c.1110A= (p.Ala370=) n.721A= | |
16 | g.56833348A>C | CA495600410 | NUP93 | c.1479A>C (p.Ala493=) c.1110A>C (p.Ala370=) n.721A>C | |
16 | g.56833348A>G | CA8068438 | NUP93 | c.1479A>G (p.Ala493=) c.1110A>G (p.Ala370=) n.721A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833348A>T | CA495600411 | NUP93 | c.1479A>T (p.Ala493=) c.1110A>T (p.Ala370=) n.721A>T | gnomAD v4 |
16 | g.56833349C>A | CA395990265 | NUP93 | c.1480C>A (p.Leu494Met) c.1111C>A (p.Leu371Met) n.722C>A | |
16 | g.56833349C>G | CA395990266 | NUP93 | c.1480C>G (p.Leu494Val) c.1111C>G (p.Leu371Val) n.722C>G | |
16 | g.56833349C>T | CA495600412 | NUP93 | c.1480C>T (p.Leu494=) c.1111C>T (p.Leu371=) n.722C>T | |
16 | g.56833350T>A | CA395990268 | NUP93 | c.1481T>A (p.Leu494Gln) c.1112T>A (p.Leu371Gln) n.723T>A | |
16 | g.56833350T>C | CA395990269 | NUP93 | c.1481T>C (p.Leu494Pro) c.1112T>C (p.Leu371Pro) n.723T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833350T>G | CA395990271 | NUP93 | c.1481T>G (p.Leu494Arg) c.1112T>G (p.Leu371Arg) n.723T>G | |
16 | g.56833350T= | CA2224332258 | NUP93 | c.1481T= (p.Leu494=) c.1112T= (p.Leu371=) n.723T= | |
16 | g.56833351G>A | CA495600413 | NUP93 | c.1482G>A (p.Leu494=) c.1113G>A (p.Leu371=) n.724G>A | COSMIC |
16 | g.56833351G>C | CA495600414 | NUP93 | c.1482G>C (p.Leu494=) c.1113G>C (p.Leu371=) n.724G>C | |
16 | g.56833351G>T | CA495600415 | NUP93 | c.1482G>T (p.Leu494=) c.1113G>T (p.Leu371=) n.724G>T | |
16 | g.56833352G>A | CA395990275 | NUP93 | c.1483G>A (p.Val495Met) c.1114G>A (p.Val372Met) n.725G>A | gnomAD v4 |
16 | g.56833352G>C | CA395990274 | NUP93 | c.1483G>C (p.Val495Leu) c.1114G>C (p.Val372Leu) n.725G>C | |
16 | g.56833352G>T | CA395990273 | NUP93 | c.1483G>T (p.Val495Leu) c.1114G>T (p.Val372Leu) n.725G>T | |
16 | g.56833353T>A | CA395990278 | NUP93 | c.1484T>A (p.Val495Glu) c.1115T>A (p.Val372Glu) n.726T>A | |
16 | g.56833353T>C | CA395990280 | NUP93 | c.1484T>C (p.Val495Ala) c.1115T>C (p.Val372Ala) n.726T>C | |
16 | g.56833353T>G | CA395990282 | NUP93 | c.1484T>G (p.Val495Gly) c.1115T>G (p.Val372Gly) n.726T>G | |
16 | g.56833354G>A | CA495600416 | NUP93 | c.1485G>A (p.Val495=) c.1116G>A (p.Val372=) n.727G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833354G>C | CA495600417 | NUP93 | c.1485G>C (p.Val495=) c.1116G>C (p.Val372=) n.727G>C | |
16 | g.56833354G= | CA2224332259 | NUP93 | c.1485G= (p.Val495=) c.1116G= (p.Val372=) n.727G= | |
16 | g.56833354G>T | CA495600418 | NUP93 | c.1485G>T (p.Val495=) c.1116G>T (p.Val372=) n.727G>T | |
16 | g.56833355C>A | CA395990284 | NUP93 | c.1486C>A (p.Leu496Met) c.1117C>A (p.Leu373Met) n.728C>A | |
16 | g.56833355C>G | CA395990286 | NUP93 | c.1486C>G (p.Leu496Val) c.1117C>G (p.Leu373Val) n.728C>G | |
16 | g.56833355C>T | CA495600419 | NUP93 | c.1486C>T (p.Leu496=) c.1117C>T (p.Leu373=) n.728C>T | |
16 | g.56833356T>A | CA395990289 | NUP93 | c.1487T>A (p.Leu496Gln) c.1118T>A (p.Leu373Gln) n.729T>A | |
16 | g.56833356T>C | CA395990290 | NUP93 | c.1487T>C (p.Leu496Pro) c.1118T>C (p.Leu373Pro) n.729T>C | gnomAD v4 |
16 | g.56833356T>G | CA395990291 | NUP93 | c.1487T>G (p.Leu496Arg) c.1118T>G (p.Leu373Arg) n.729T>G | |
16 | g.56833357G>A | CA8068439 | NUP93 | c.1488G>A (p.Leu496=) c.1119G>A (p.Leu373=) n.730G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833357G>C | CA8068440 | NUP93 | c.1488G>C (p.Leu496=) c.1119G>C (p.Leu373=) n.730G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833357G= | CA2224332260 | NUP93 | c.1488G= (p.Leu496=) c.1119G= (p.Leu373=) n.730G= | |
16 | g.56833357G>T | CA495600420 | NUP93 | c.1488G>T (p.Leu496=) c.1119G>T (p.Leu373=) n.730G>T | |
16 | g.56833358T>A | CA395990296 | NUP93 | c.1489T>A (p.Phe497Ile) c.1120T>A (p.Phe374Ile) n.731T>A | |
16 | g.56833358T>C | CA395990298 | NUP93 | c.1489T>C (p.Phe497Leu) c.1120T>C (p.Phe374Leu) n.731T>C | |
16 | g.56833358T>G | CA395990300 | NUP93 | c.1489T>G (p.Phe497Val) c.1120T>G (p.Phe374Val) n.731T>G | |
16 | g.56833359T>A | CA395990304 | NUP93 | c.1490T>A (p.Phe497Tyr) c.1121T>A (p.Phe374Tyr) n.732T>A | gnomAD v4 |
16 | g.56833359T>C | CA395990303 | NUP93 | c.1490T>C (p.Phe497Ser) c.1121T>C (p.Phe374Ser) n.732T>C | |
16 | g.56833359T>G | CA395990302 | NUP93 | c.1490T>G (p.Phe497Cys) c.1121T>G (p.Phe374Cys) n.732T>G | |
16 | g.56833360T>A | CA395990305 | NUP93 | c.1491T>A (p.Phe497Leu) c.1122T>A (p.Phe374Leu) n.733T>A | |
16 | g.56833360T>C | CA495600421 | NUP93 | c.1491T>C (p.Phe497=) c.1122T>C (p.Phe374=) n.733T>C | |
16 | g.56833360T>G | CA395990306 | NUP93 | c.1491T>G (p.Phe497Leu) c.1122T>G (p.Phe374Leu) n.733T>G | |
16 | g.56833361G>A | CA395990308 | NUP93 | c.1492G>A (p.Glu498Lys) c.1123G>A (p.Glu375Lys) n.734G>A | |
16 | g.56833361G>C | CA395990311 | NUP93 | c.1492G>C (p.Glu498Gln) c.1123G>C (p.Glu375Gln) n.734G>C | |
16 | g.56833361G>T | CA395990309 | NUP93 | c.1492G>T (p.Glu498Ter) c.1123G>T (p.Glu375Ter) n.734G>T | |
16 | g.56833362A>C | CA395990314 | NUP93 | c.1493A>C (p.Glu498Ala) c.1124A>C (p.Glu375Ala) n.735A>C | |
16 | g.56833362A>G | CA395990318 | NUP93 | c.1493A>G (p.Glu498Gly) c.1124A>G (p.Glu375Gly) n.735A>G | |
16 | g.56833362A>T | CA395990316 | NUP93 | c.1493A>T (p.Glu498Val) c.1124A>T (p.Glu375Val) n.735A>T | |
16 | g.56833363G>A | CA495600422 | NUP93 | c.1494G>A (p.Glu498=) c.1125G>A (p.Glu375=) n.736G>A | gnomAD v4 |
16 | g.56833363G>C | CA395990320 | NUP93 | c.1494G>C (p.Glu498Asp) c.1125G>C (p.Glu375Asp) n.736G>C | |
16 | g.56833363G= | CA2224332261 | NUP93 | c.1494G= (p.Glu498=) c.1125G= (p.Glu375=) n.736G= | |
16 | g.56833363G>T | CA8068441 | NUP93 | c.1494G>T (p.Glu498Asp) c.1125G>T (p.Glu375Asp) n.736G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833364C>A | CA395990324 | NUP93 | c.1495C>A (p.Leu499Met) c.1126C>A (p.Leu376Met) n.737C>A | |
16 | g.56833364C>G | CA395990325 | NUP93 | c.1495C>G (p.Leu499Val) c.1126C>G (p.Leu376Val) n.737C>G | |
16 | g.56833364C>T | CA495600423 | NUP93 | c.1495C>T (p.Leu499=) c.1126C>T (p.Leu376=) n.737C>T | |
16 | g.56833365T>A | CA395990327 | NUP93 | c.1496T>A (p.Leu499Gln) c.1127T>A (p.Leu376Gln) n.738T>A | |
16 | g.56833365T>C | CA395990329 | NUP93 | c.1496T>C (p.Leu499Pro) c.1127T>C (p.Leu376Pro) n.738T>C | gnomAD v4 |
16 | g.56833365T>G | CA395990330 | NUP93 | c.1496T>G (p.Leu499Arg) c.1127T>G (p.Leu376Arg) n.738T>G | |
16 | g.56833366G>A | CA495600424 | NUP93 | c.1497G>A (p.Leu499=) c.1128G>A (p.Leu376=) n.739G>A | gnomAD v4 |
16 | g.56833366G>C | CA495600425 | NUP93 | c.1497G>C (p.Leu499=) c.1128G>C (p.Leu376=) n.739G>C | |
16 | g.56833366G>T | CA495600426 | NUP93 | c.1497G>T (p.Leu499=) c.1128G>T (p.Leu376=) n.739G>T | |
16 | g.56833367A= | CA2224332262 | NUP93 | c.1498A= (p.Lys500=) c.1129A= (p.Lys377=) n.740A= | |
16 | g.56833367A>C | CA281497239 | NUP93 | c.1498A>C (p.Lys500Gln) c.1129A>C (p.Lys377Gln) n.740A>C | dbSNP |
16 | g.56833367A>G | CA395990333 | NUP93 | c.1498A>G (p.Lys500Glu) c.1129A>G (p.Lys377Glu) n.740A>G | |
16 | g.56833367A>T | CA395990335 | NUP93 | c.1498A>T (p.Lys500Ter) c.1129A>T (p.Lys377Ter) n.740A>T | |
16 | g.56833368A>C | CA395990338 | NUP93 | c.1499A>C (p.Lys500Thr) c.1130A>C (p.Lys377Thr) n.741A>C | |
16 | g.56833368A>G | CA395990340 | NUP93 | c.1499A>G (p.Lys500Arg) c.1130A>G (p.Lys377Arg) n.741A>G | |
16 | g.56833368A>T | CA395990341 | NUP93 | c.1499A>T (p.Lys500Met) c.1130A>T (p.Lys377Met) n.741A>T | |
16 | g.56833369G>A | CA495600427 | NUP93 | c.1500G>A (p.Lys500=) c.1131G>A (p.Lys377=) n.742G>A | |
16 | g.56833369G>C | CA395990345 | NUP93 | c.1500G>C (p.Lys500Asn) c.1131G>C (p.Lys377Asn) n.742G>C | |
16 | g.56833369G>T | CA395990344 | NUP93 | c.1500G>T (p.Lys500Asn) c.1131G>T (p.Lys377Asn) n.742G>T | |
16 | g.56833370C>A | CA395990347 | NUP93 | c.1501C>A (p.Leu501Met) c.1132C>A (p.Leu378Met) n.743C>A | gnomAD v4 |
16 | g.56833370C>G | CA395990349 | NUP93 | c.1501C>G (p.Leu501Val) c.1132C>G (p.Leu378Val) n.743C>G | |
16 | g.56833370C>T | CA495600428 | NUP93 | c.1501C>T (p.Leu501=) c.1132C>T (p.Leu378=) n.743C>T | |
16 | g.56833371T>A | CA395990351 | NUP93 | c.1502T>A (p.Leu501Gln) c.1133T>A (p.Leu378Gln) n.744T>A | |
16 | g.56833371T>C | CA395990353 | NUP93 | c.1502T>C (p.Leu501Pro) c.1133T>C (p.Leu378Pro) n.744T>C | |
16 | g.56833371T>G | CA395990355 | NUP93 | c.1502T>G (p.Leu501Arg) c.1133T>G (p.Leu378Arg) n.744T>G | |
16 | g.56833372G>A | CA495600429 | NUP93 | c.1503G>A (p.Leu501=) c.1134G>A (p.Leu378=) n.745G>A | |
16 | g.56833372G>C | CA495600430 | NUP93 | c.1503G>C (p.Leu501=) c.1134G>C (p.Leu378=) n.745G>C | |
16 | g.56833372G>T | CA495600431 | NUP93 | c.1503G>T (p.Leu501=) c.1134G>T (p.Leu378=) n.745G>T | |
16 | g.56833373C>A | CA395990357 | NUP93 | c.1504C>A (p.Leu502Ile) c.1135C>A (p.Leu379Ile) n.746C>A | |
16 | g.56833373C>G | CA395990358 | NUP93 | c.1504C>G (p.Leu502Val) c.1135C>G (p.Leu379Val) n.746C>G | |
16 | g.56833373C>T | CA395990360 | NUP93 | c.1504C>T (p.Leu502Phe) c.1135C>T (p.Leu379Phe) n.746C>T | |
16 | g.56833374T>A | CA395990362 | NUP93 | c.1505T>A (p.Leu502His) c.1136T>A (p.Leu379His) n.747T>A | |
16 | g.56833374T>C | CA395990364 | NUP93 | c.1505T>C (p.Leu502Pro) c.1136T>C (p.Leu379Pro) n.747T>C | gnomAD v4 |
16 | g.56833374T>G | CA395990366 | NUP93 | c.1505T>G (p.Leu502Arg) c.1136T>G (p.Leu379Arg) n.747T>G | |
16 | g.56833375T>A | CA495600432 | NUP93 | c.1506T>A (p.Leu502=) c.1137T>A (p.Leu379=) n.748T>A | |
16 | g.56833375T>C | CA495600433 | NUP93 | c.1506T>C (p.Leu502=) c.1137T>C (p.Leu379=) n.748T>C | |
16 | g.56833375T>G | CA495600434 | NUP93 | c.1506T>G (p.Leu502=) c.1137T>G (p.Leu379=) n.748T>G | |
16 | g.56833376T>A | CA395990367 | NUP93 | c.1507T>A (p.Leu503Ile) c.1138T>A (p.Leu380Ile) n.749T>A | |
16 | g.56833376T>C | CA495600435 | NUP93 | c.1507T>C (p.Leu503=) c.1138T>C (p.Leu380=) n.749T>C | |
16 | g.56833376T>G | CA395990369 | NUP93 | c.1507T>G (p.Leu503Val) c.1138T>G (p.Leu380Val) n.749T>G | |
16 | g.56833377T>A | CA395990372 | NUP93 | c.1508T>A (p.Leu503Ter) c.1139T>A (p.Leu380Ter) n.750T>A | |
16 | g.56833377T>C | CA395990376 | NUP93 | c.1508T>C (p.Leu503Ser) c.1139T>C (p.Leu380Ser) n.750T>C | |
16 | g.56833377T>G | CA395990374 | NUP93 | c.1508T>G (p.Leu503Ter) c.1139T>G (p.Leu380Ter) n.750T>G | |
16 | g.56833378A>C | CA395990378 | NUP93 | c.1509A>C (p.Leu503Phe) c.1140A>C (p.Leu380Phe) n.751A>C | |
16 | g.56833378A>G | CA495600436 | NUP93 | c.1509A>G (p.Leu503=) c.1140A>G (p.Leu380=) n.751A>G | |
16 | g.56833378A>T | CA395990380 | NUP93 | c.1509A>T (p.Leu503Phe) c.1140A>T (p.Leu380Phe) n.751A>T | |
16 | g.56833379A>C | CA395990382 | NUP93 | c.1510A>C (p.Lys504Gln) c.1141A>C (p.Lys381Gln) n.752A>C | |
16 | g.56833379A>G | CA395990384 | NUP93 | c.1510A>G (p.Lys504Glu) c.1141A>G (p.Lys381Glu) n.752A>G | |
16 | g.56833379A>T | CA395990386 | NUP93 | c.1510A>T (p.Lys504Ter) c.1141A>T (p.Lys381Ter) n.752A>T | |
16 | g.56833380A>C | CA395990388 | NUP93 | c.1511A>C (p.Lys504Thr) c.1142A>C (p.Lys381Thr) n.753A>C | |
16 | g.56833380A>G | CA395990390 | NUP93 | c.1511A>G (p.Lys504Arg) c.1142A>G (p.Lys381Arg) n.753A>G | |
16 | g.56833380A>T | CA395990391 | NUP93 | c.1511A>T (p.Lys504Met) c.1142A>T (p.Lys381Met) n.753A>T | |
16 | g.56833381G>A | CA495600437 | NUP93 | c.1512G>A (p.Lys504=) c.1143G>A (p.Lys381=) n.754G>A | |
16 | g.56833381G>C | CA395990393 | NUP93 | c.1512G>C (p.Lys504Asn) c.1143G>C (p.Lys381Asn) n.754G>C | |
16 | g.56833381G>T | CA395990395 | NUP93 | c.1512G>T (p.Lys504Asn) c.1143G>T (p.Lys381Asn) n.754G>T | |
16 | g.56833382T>A | CA395990401 | NUP93 | c.1513T>A (p.Ser505Thr) c.1144T>A (p.Ser382Thr) n.755T>A | |
16 | g.56833382T>C | CA395990399 | NUP93 | c.1513T>C (p.Ser505Pro) c.1144T>C (p.Ser382Pro) n.755T>C | |
16 | g.56833382T>G | CA395990397 | NUP93 | c.1513T>G (p.Ser505Ala) c.1144T>G (p.Ser382Ala) n.755T>G | gnomAD v4 |
16 | g.56833383C>A | CA395990403 | NUP93 | c.1514C>A (p.Ser505Tyr) c.1145C>A (p.Ser382Tyr) n.756C>A | |
16 | g.56833383C>G | CA395990405 | NUP93 | c.1514C>G (p.Ser505Cys) c.1145C>G (p.Ser382Cys) n.756C>G | |
16 | g.56833383C>T | CA395990407 | NUP93 | c.1514C>T (p.Ser505Phe) c.1145C>T (p.Ser382Phe) n.756C>T | |
16 | g.56833384del | CA2576001280 | NUP93 | c.1515del (p.Ser506LeufsTer21) c.1146del (p.Ser383LeufsTer21) n.757del | |
16 | g.56833384C>A | CA495600439 | NUP93 | c.1515C>A (p.Ser505=) c.1146C>A (p.Ser382=) n.757C>A | |
16 | g.56833384C>G | CA495600440 | NUP93 | c.1515C>G (p.Ser505=) c.1146C>G (p.Ser382=) n.757C>G | gnomAD v4 |
16 | g.56833384C>T | CA495600441 | NUP93 | c.1515C>T (p.Ser505=) c.1146C>T (p.Ser382=) n.757C>T | |
16 | g.56833385T>A | CA395990409 | NUP93 | c.1516T>A (p.Ser506Thr) c.1147T>A (p.Ser383Thr) n.758T>A | |
16 | g.56833385T>C | CA395990412 | NUP93 | c.1516T>C (p.Ser506Pro) c.1147T>C (p.Ser383Pro) n.758T>C | gnomAD v4 |
16 | g.56833385T>G | CA395990415 | NUP93 | c.1516T>G (p.Ser506Ala) c.1147T>G (p.Ser383Ala) n.758T>G | |
16 | g.56833386C>A | CA395990418 | NUP93 | c.1517C>A (p.Ser506Tyr) c.1148C>A (p.Ser383Tyr) n.759C>A | gnomAD v4 |
16 | g.56833386C= | CA2224332263 | NUP93 | c.1517C= (p.Ser506=) c.1148C= (p.Ser383=) n.759C= | |
16 | g.56833386C>G | CA395990420 | NUP93 | c.1517C>G (p.Ser506Cys) c.1148C>G (p.Ser383Cys) n.759C>G | dbSNP |
16 | g.56833386C>T | CA395990423 | NUP93 | c.1517C>T (p.Ser506Phe) c.1148C>T (p.Ser383Phe) n.759C>T | |
16 | g.56833387T>A | CA495600444 | NUP93 | c.1518T>A (p.Ser506=) c.1149T>A (p.Ser383=) n.760T>A | |
16 | g.56833387T>C | CA495600445 | NUP93 | c.1518T>C (p.Ser506=) c.1149T>C (p.Ser383=) n.760T>C | |
16 | g.56833387T>G | CA495600446 | NUP93 | c.1518T>G (p.Ser506=) c.1149T>G (p.Ser383=) n.760T>G | |
16 | g.56833388G>A | CA395990426 | NUP93 | c.1519G>A (p.Gly507Arg) c.1150G>A (p.Gly384Arg) n.761G>A | ClinVar |
16 | g.56833388G>C | CA395990429 | NUP93 | c.1519G>C (p.Gly507Arg) c.1150G>C (p.Gly384Arg) n.761G>C | |
16 | g.56833388G>T | CA395990431 | NUP93 | c.1519G>T (p.Gly507Ter) c.1150G>T (p.Gly384Ter) n.761G>T | |
16 | g.56833389G>A | CA395990438 | NUP93 | c.1520G>A (p.Gly507Glu) c.1151G>A (p.Gly384Glu) n.762G>A | |
16 | g.56833389G>C | CA395990441 | NUP93 | c.1520G>C (p.Gly507Ala) c.1151G>C (p.Gly384Ala) n.762G>C | |
16 | g.56833389G>T | CA395990436 | NUP93 | c.1520G>T (p.Gly507Val) c.1151G>T (p.Gly384Val) n.762G>T | |
16 | g.56833390A>C | CA495600449 | NUP93 | c.1521A>C (p.Gly507=) c.1152A>C (p.Gly384=) | |
16 | g.56833390A>G | CA495600451 | NUP93 | c.1521A>G (p.Gly507=) c.1152A>G (p.Gly384=) | |
16 | g.56833390A>T | CA495600450 | NUP93 | c.1521A>T (p.Gly507=) c.1152A>T (p.Gly384=) | |
16 | g.56833391C>A | CA395990450 | NUP93 | c.1522C>A (p.Gln508Lys) c.1153C>A (p.Gln385Lys) | gnomAD v4 |
16 | g.56833391C= | CA2224332265 | NUP93 | c.1522C= (p.Gln508=) c.1153C= (p.Gln385=) | |
16 | g.56833391C>G | CA395990444 | NUP93 | c.1522C>G (p.Gln508Glu) c.1153C>G (p.Gln385Glu) | gnomAD v4 |
16 | g.56833391C>T | CA8068443 | NUP93 | c.1522C>T (p.Gln508Ter) c.1153C>T (p.Gln385Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833391_56833392delinsCA | CA2224332264 | NUP93 | c.1522_1523delinsCA (p.Gln508=) c.1153_1154delinsCA (p.Gln385=) | |
16 | g.56833392del | CA8068442 | NUP93 | c.1523del (p.Gln508ArgfsTer19) c.1154del (p.Gln385ArgfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833392A= | CA2224332266 | NUP93 | c.1523A= (p.Gln508=) c.1154A= (p.Gln385=) | |
16 | g.56833392A>C | CA395990454 | NUP93 | c.1523A>C (p.Gln508Pro) c.1154A>C (p.Gln385Pro) | |
16 | g.56833392A>G | CA8068444 | NUP93 | c.1523A>G (p.Gln508Arg) c.1154A>G (p.Gln385Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833392A>T | CA395990460 | NUP93 | c.1523A>T (p.Gln508Leu) c.1154A>T (p.Gln385Leu) | |
16 | g.56833393del | CA395990483 | NUP93 | c.1524del (p.Ser509ValfsTer18) c.1155del (p.Ser386ValfsTer18) | |
16 | g.56833393G>A | CA495600452 | NUP93 | c.1524G>A (p.Gln508=) c.1155G>A (p.Gln385=) | |
16 | g.56833393G>C | CA395990471 | NUP93 | c.1524G>C (p.Gln508His) c.1155G>C (p.Gln385His) | |
16 | g.56833393G>T | CA395990480 | NUP93 | c.1524G>T (p.Gln508His) c.1155G>T (p.Gln385His) | gnomAD v4 COSMIC |
16 | g.56833394A>C | CA395990487 | NUP93 | c.1525A>C (p.Ser509Arg) c.1156A>C (p.Ser386Arg) | |
16 | g.56833394A>G | CA395990489 | NUP93 | c.1525A>G (p.Ser509Gly) c.1156A>G (p.Ser386Gly) | gnomAD v4 |
16 | g.56833394A>T | CA395990492 | NUP93 | c.1525A>T (p.Ser509Cys) c.1156A>T (p.Ser386Cys) | |
16 | g.56833395G>A | CA395990501 | NUP93 | c.1526G>A (p.Ser509Asn) c.1157G>A (p.Ser386Asn) | gnomAD v4 |
16 | g.56833395G>C | CA395990498 | NUP93 | c.1526G>C (p.Ser509Thr) c.1157G>C (p.Ser386Thr) | |
16 | g.56833395G>T | CA395990495 | NUP93 | c.1526G>T (p.Ser509Ile) c.1157G>T (p.Ser386Ile) | |
16 | g.56833396T>A | CA395990506 | NUP93 | c.1527T>A (p.Ser509Arg) c.1158T>A (p.Ser386Arg) | |
16 | g.56833396T>C | CA495600453 | NUP93 | c.1527T>C (p.Ser509=) c.1158T>C (p.Ser386=) | |
16 | g.56833396T>G | CA281497254 | NUP93 | c.1527T>G (p.Ser509Arg) c.1158T>G (p.Ser386Arg) | dbSNP |
16 | g.56833396T= | CA2224332267 | NUP93 | c.1527T= (p.Ser509=) c.1158T= (p.Ser386=) | |
16 | g.56833397G>A | CA395990514 | NUP93 | c.1528G>A (p.Ala510Thr) c.1159G>A (p.Ala387Thr) | |
16 | g.56833397G>C | CA395990516 | NUP93 | c.1528G>C (p.Ala510Pro) c.1159G>C (p.Ala387Pro) | |
16 | g.56833397G>T | CA395990519 | NUP93 | c.1528G>T (p.Ala510Ser) c.1159G>T (p.Ala387Ser) | |
16 | g.56833398C>A | CA395990522 | NUP93 | c.1529C>A (p.Ala510Asp) c.1160C>A (p.Ala387Asp) | gnomAD v4 |
16 | g.56833398C>G | CA395990525 | NUP93 | c.1529C>G (p.Ala510Gly) c.1160C>G (p.Ala387Gly) | |
16 | g.56833398C>T | CA395990528 | NUP93 | c.1529C>T (p.Ala510Val) c.1160C>T (p.Ala387Val) | |
16 | g.56833399T>A | CA495600455 | NUP93 | c.1530T>A (p.Ala510=) c.1161T>A (p.Ala387=) | |
16 | g.56833399T>C | CA495600456 | NUP93 | c.1530T>C (p.Ala510=) c.1161T>C (p.Ala387=) | dbSNP gnomAD v4 |
16 | g.56833399T>G | CA8068445 | NUP93 | c.1530T>G (p.Ala510=) c.1161T>G (p.Ala387=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833399T= | CA2224332268 | NUP93 | c.1530T= (p.Ala510=) c.1161T= (p.Ala387=) | |
16 | g.56833400del | CA2633366392 | NUP93 | c.1531del (p.Gln511SerfsTer16) c.1162del (p.Gln388SerfsTer16) | gnomAD v4 |
16 | g.56833400C>A | CA281497255 | NUP93 | c.1531C>A (p.Gln511Lys) c.1162C>A (p.Gln388Lys) | dbSNP |
16 | g.56833400C= | CA2224332269 | NUP93 | c.1531C= (p.Gln511=) c.1162C= (p.Gln388=) | |
16 | g.56833400C>G | CA395990536 | NUP93 | c.1531C>G (p.Gln511Glu) c.1162C>G (p.Gln388Glu) | gnomAD v4 |
16 | g.56833400C>T | CA395990539 | NUP93 | c.1531C>T (p.Gln511Ter) c.1162C>T (p.Gln388Ter) | |
16 | g.56833401A>C | CA395990549 | NUP93 | c.1532A>C (p.Gln511Pro) c.1163A>C (p.Gln388Pro) | |
16 | g.56833401A>G | CA395990547 | NUP93 | c.1532A>G (p.Gln511Arg) c.1163A>G (p.Gln388Arg) | |
16 | g.56833401A>T | CA395990544 | NUP93 | c.1532A>T (p.Gln511Leu) c.1163A>T (p.Gln388Leu) | |
16 | g.56833402G>A | CA495600457 | NUP93 | c.1533G>A (p.Gln511=) c.1164G>A (p.Gln388=) | gnomAD v4 |
16 | g.56833402G>C | CA395990552 | NUP93 | c.1533G>C (p.Gln511His) c.1164G>C (p.Gln388His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56833402G= | CA2224332270 | NUP93 | c.1533G= (p.Gln511=) c.1164G= (p.Gln388=) | |
16 | g.56833402G>T | CA395990555 | NUP93 | c.1533G>T (p.Gln511His) c.1164G>T (p.Gln388His) | |
16 | g.56833403C>A | CA395990559 | NUP93 | c.1534C>A (p.Leu512Ile) c.1165C>A (p.Leu389Ile) | gnomAD v4 |
16 | g.56833403C>G | CA395990562 | NUP93 | c.1534C>G (p.Leu512Val) c.1165C>G (p.Leu389Val) | |
16 | g.56833403C>T | CA395990565 | NUP93 | c.1534C>T (p.Leu512Phe) c.1165C>T (p.Leu389Phe) | gnomAD v4 |
16 | g.56833404T>A | CA395990571 | NUP93 | c.1535T>A (p.Leu512His) c.1166T>A (p.Leu389His) | |
16 | g.56833404T>C | CA8068446 | NUP93 | c.1535T>C (p.Leu512Pro) c.1166T>C (p.Leu389Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56833404T>G | CA395990568 | NUP93 | c.1535T>G (p.Leu512Arg) c.1166T>G (p.Leu389Arg) | |
16 | g.56833404T= | CA2224332271 | NUP93 | c.1535T= (p.Leu512=) c.1166T= (p.Leu389=) | |
16 | g.56833405C>A | CA495600458 | NUP93 | c.1536C>A (p.Leu512=) c.1167C>A (p.Leu389=) | |
16 | g.56833405C= | CA2224332272 | NUP93 | c.1536C= (p.Leu512=) c.1167C= (p.Leu389=) | |
16 | g.56833405C>G | CA495600459 | NUP93 | c.1536C>G (p.Leu512=) c.1167C>G (p.Leu389=) | |
16 | g.56833405C>T | CA495600460 | NUP93 | c.1536C>T (p.Leu512=) c.1167C>T (p.Leu389=) | dbSNP |
16 | g.56833406dup | CA622338452 | NUP93 | c.1537dup (p.Leu513ProfsTer7) c.1168dup (p.Leu390ProfsTer7) | dbSNP gnomAD v2 |
16 | g.56833406C>A | CA395990574 | NUP93 | c.1537C>A (p.Leu513Ile) c.1168C>A (p.Leu390Ile) | |
16 | g.56833406C= | CA2224332273 | NUP93 | c.1537C= (p.Leu513=) c.1168C= (p.Leu390=) | |
16 | g.56833406C>G | CA395990577 | NUP93 | c.1537C>G (p.Leu513Val) c.1168C>G (p.Leu390Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56833406C>T | CA281497265 | NUP93 | c.1537C>T (p.Leu513Phe) c.1168C>T (p.Leu390Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56833407G>A | CA357849 | NUP93 | c.1537+1G>A (n.1537+1G>A) c.1168+1G>A (n.1168+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56833407G>C | CA395990585 | NUP93 | c.1537+1G>C (n.1537+1G>C) c.1168+1G>C (n.1168+1G>C) | |
16 | g.56833407G= | CA2224332274 | NUP93 | c.1537+1G= (n.1537+1G=) c.1168+1G= (n.1168+1G=) | |
16 | g.56833407G>T | CA395990586 | NUP93 | c.1537+1G>T (n.1537+1G>T) c.1168+1G>T (n.1168+1G>T) | gnomAD v4 |
16 | g.56833408T>A | CA395990590 | NUP93 | c.1537+2T>A (n.1537+2T>A) c.1168+2T>A (n.1168+2T>A) | |
16 | g.56833408T>C | CA395990595 | NUP93 | c.1537+2T>C (n.1537+2T>C) c.1168+2T>C (n.1168+2T>C) | |
16 | g.56833408T>G | CA395990592 | NUP93 | c.1537+2T>G (n.1537+2T>G) c.1168+2T>G (n.1168+2T>G) | |
16 | g.56833409G>A | CA2633366401 | NUP93 | c.1537+3G>A (n.1537+3G>A) c.1168+3G>A (n.1168+3G>A) | gnomAD v4 |
16 | g.56833409G>T | CA2633366400 | NUP93 | c.1537+3G>T (n.1537+3G>T) c.1168+3G>T (n.1168+3G>T) | gnomAD v4 |