| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.56565191C>A | CA10430148 | UBQLN2 | c.1318C>A (p.Pro440Thr) c.273+1451C>A (n.273+1451C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565191C= | CA2431031012 | UBQLN2 | c.1318C= (p.Pro440=) c.273+1451C= (n.273+1451C=) | |
| X | g.56565191C>G | CA413380324 | UBQLN2 | c.1318C>G (p.Pro440Ala) c.273+1451C>G (n.273+1451C>G) | |
| X | g.56565191C>T | CA10430149 | UBQLN2 | c.1318C>T (p.Pro440Ser) c.273+1451C>T (n.273+1451C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.56565192C>A | CA10430151 | UBQLN2 | c.1319C>A (p.Pro440Gln) c.273+1452C>A (n.273+1452C>A) | dbSNP ExAC gnomAD v2 |
| X | g.56565192C= | CA2431031013 | UBQLN2 | c.1319C= (p.Pro440=) c.273+1452C= (n.273+1452C=) | |
| X | g.56565192C>G | CA413380325 | UBQLN2 | c.1319C>G (p.Pro440Arg) c.273+1452C>G (n.273+1452C>G) | |
| X | g.56565192C>T | CA10430150 | UBQLN2 | c.1319C>T (p.Pro440Leu) c.273+1452C>T (n.273+1452C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565193A>C | CA516701299 | UBQLN2 | c.1320A>C (p.Pro440=) c.273+1453A>C (n.273+1453A>C) | |
| X | g.56565193A>G | CA516701301 | UBQLN2 | c.1320A>G (p.Pro440=) c.273+1453A>G (n.273+1453A>G) | gnomAD v4 |
| X | g.56565193A>T | CA516701300 | UBQLN2 | c.1320A>T (p.Pro440=) c.273+1453A>T (n.273+1453A>T) | |
| X | g.56565194G>A | CA413380328 | UBQLN2 | c.1321G>A (p.Asp441Asn) c.273+1454G>A (n.273+1454G>A) | |
| X | g.56565194G>C | CA413380326 | UBQLN2 | c.1321G>C (p.Asp441His) c.273+1454G>C (n.273+1454G>C) | |
| X | g.56565194G>T | CA413380327 | UBQLN2 | c.1321G>T (p.Asp441Tyr) c.273+1454G>T (n.273+1454G>T) | COSMIC |
| X | g.56565195A>C | CA413380329 | UBQLN2 | c.1322A>C (p.Asp441Ala) c.273+1455A>C (n.273+1455A>C) | |
| X | g.56565195A>G | CA413380330 | UBQLN2 | c.1322A>G (p.Asp441Gly) c.273+1455A>G (n.273+1455A>G) | |
| X | g.56565195A>T | CA413380331 | UBQLN2 | c.1322A>T (p.Asp441Val) c.273+1455A>T (n.273+1455A>T) | |
| X | g.56565196C>A | CA413380332 | UBQLN2 | c.1323C>A (p.Asp441Glu) c.273+1456C>A (n.273+1456C>A) | |
| X | g.56565196C= | CA2431031014 | UBQLN2 | c.1323C= (p.Asp441=) c.273+1456C= (n.273+1456C=) | |
| X | g.56565196C>G | CA413380333 | UBQLN2 | c.1323C>G (p.Asp441Glu) c.273+1456C>G (n.273+1456C>G) | |
| X | g.56565196C>T | CA330041888 | UBQLN2 | c.1323C>T (p.Asp441=) c.273+1456C>T (n.273+1456C>T) | dbSNP |
| X | g.56565197A>C | CA413380336 | UBQLN2 | c.1324A>C (p.Thr442Pro) c.273+1457A>C (n.273+1457A>C) | |
| X | g.56565197A>G | CA413380334 | UBQLN2 | c.1324A>G (p.Thr442Ala) c.273+1457A>G (n.273+1457A>G) | |
| X | g.56565197A>T | CA413380335 | UBQLN2 | c.1324A>T (p.Thr442Ser) c.273+1457A>T (n.273+1457A>T) | |
| X | g.56565198C>A | CA413380337 | UBQLN2 | c.1325C>A (p.Thr442Lys) c.273+1458C>A (n.273+1458C>A) | |
| X | g.56565198C>G | CA413380338 | UBQLN2 | c.1325C>G (p.Thr442Arg) c.273+1458C>G (n.273+1458C>G) | |
| X | g.56565198C>T | CA413380339 | UBQLN2 | c.1325C>T (p.Thr442Ile) c.273+1458C>T (n.273+1458C>T) | |
| X | g.56565199A>C | CA516701364 | UBQLN2 | c.1326A>C (p.Thr442=) c.273+1459A>C (n.273+1459A>C) | |
| X | g.56565199A>G | CA516701365 | UBQLN2 | c.1326A>G (p.Thr442=) c.273+1459A>G (n.273+1459A>G) | gnomAD v4 |
| X | g.56565199A>T | CA516701366 | UBQLN2 | c.1326A>T (p.Thr442=) c.273+1459A>T (n.273+1459A>T) | |
| X | g.56565200C>A | CA413380340 | UBQLN2 | c.1327C>A (p.Leu443Ile) c.273+1460C>A (n.273+1460C>A) | |
| X | g.56565200C>G | CA413380341 | UBQLN2 | c.1327C>G (p.Leu443Val) c.273+1460C>G (n.273+1460C>G) | |
| X | g.56565200C>T | CA516701367 | UBQLN2 | c.1327C>T (p.Leu443=) c.273+1460C>T (n.273+1460C>T) | |
| X | g.56565200_56565202delinsCTA | CA2431031015 | UBQLN2 | c.1327_1329delinsCTA (p.Leu443=) c.273+1460_273+1462delinsCTA (n.273+1460_273+1462delinsCTA) | |
| X | g.56565201T>A | CA413380342 | UBQLN2 | c.1328T>A (p.Leu443Gln) c.273+1461T>A (n.273+1461T>A) | gnomAD v4 |
| X | g.56565201T>C | CA413380343 | UBQLN2 | c.1328T>C (p.Leu443Pro) c.273+1461T>C (n.273+1461T>C) | |
| X | g.56565201T>G | CA413380344 | UBQLN2 | c.1328T>G (p.Leu443Arg) c.273+1461T>G (n.273+1461T>G) | |
| X | g.56565202_56565203del | CA2431031016 | UBQLN2 | c.1329_1330del (p.Ala445HisfsTer23) c.273+1462_273+1463del (n.273+1462_273+1463del) | dbSNP |
| X | g.56565202A= | CA2431031017 | UBQLN2 | c.1329A= (p.Leu443=) c.273+1462A= (n.273+1462A=) | |
| X | g.56565202A>C | CA516701368 | UBQLN2 | c.1329A>C (p.Leu443=) c.273+1462A>C (n.273+1462A>C) | |
| X | g.56565202A>G | CA10430152 | UBQLN2 | c.1329A>G (p.Leu443=) c.273+1462A>G (n.273+1462A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565202A>T | CA516701369 | UBQLN2 | c.1329A>T (p.Leu443=) c.273+1462A>T (n.273+1462A>T) | |
| X | g.56565203T>A | CA413380345 | UBQLN2 | c.1330T>A (p.Ser444Thr) c.273+1463T>A (n.273+1463T>A) | |
| X | g.56565203T>C | CA413380346 | UBQLN2 | c.1330T>C (p.Ser444Pro) c.273+1463T>C (n.273+1463T>C) | |
| X | g.56565203T>G | CA413380347 | UBQLN2 | c.1330T>G (p.Ser444Ala) c.273+1463T>G (n.273+1463T>G) | |
| X | g.56565204C>A | CA413380348 | UBQLN2 | c.1331C>A (p.Ser444Ter) c.273+1464C>A (n.273+1464C>A) | |
| X | g.56565204C>G | CA413380350 | UBQLN2 | c.1331C>G (p.Ser444Ter) c.273+1464C>G (n.273+1464C>G) | |
| X | g.56565204C>T | CA413380349 | UBQLN2 | c.1331C>T (p.Ser444Leu) c.273+1464C>T (n.273+1464C>T) | gnomAD v4 COSMIC |
| X | g.56565205A>C | CA516701370 | UBQLN2 | c.1332A>C (p.Ser444=) c.273+1465A>C (n.273+1465A>C) | |
| X | g.56565205A>G | CA516701372 | UBQLN2 | c.1332A>G (p.Ser444=) c.273+1465A>G (n.273+1465A>G) | |
| X | g.56565205A>T | CA516701371 | UBQLN2 | c.1332A>T (p.Ser444=) c.273+1465A>T (n.273+1465A>T) | |
| X | g.56565206G>A | CA413380351 | UBQLN2 | c.1333G>A (p.Ala445Thr) c.273+1466G>A (n.273+1466G>A) | |
| X | g.56565206G>C | CA413380352 | UBQLN2 | c.1333G>C (p.Ala445Pro) c.273+1466G>C (n.273+1466G>C) | |
| X | g.56565206G>T | CA413380353 | UBQLN2 | c.1333G>T (p.Ala445Ser) c.273+1466G>T (n.273+1466G>T) | |
| X | g.56565207C>A | CA413380354 | UBQLN2 | c.1334C>A (p.Ala445Asp) c.273+1467C>A (n.273+1467C>A) | gnomAD v4 |
| X | g.56565207C= | CA2431031018 | UBQLN2 | c.1334C= (p.Ala445=) c.273+1467C= (n.273+1467C=) | |
| X | g.56565207C>G | CA413380355 | UBQLN2 | c.1334C>G (p.Ala445Gly) c.273+1467C>G (n.273+1467C>G) | |
| X | g.56565207C>T | CA10430153 | UBQLN2 | c.1334C>T (p.Ala445Val) c.273+1467C>T (n.273+1467C>T) | dbSNP ExAC gnomAD v4 |
| X | g.56565208C>A | CA516701373 | UBQLN2 | c.1335C>A (p.Ala445=) c.273+1468C>A (n.273+1468C>A) | |
| X | g.56565208C>G | CA516701374 | UBQLN2 | c.1335C>G (p.Ala445=) c.273+1468C>G (n.273+1468C>G) | |
| X | g.56565208C>T | CA516701375 | UBQLN2 | c.1335C>T (p.Ala445=) c.273+1468C>T (n.273+1468C>T) | |
| X | g.56565209A>C | CA413380356 | UBQLN2 | c.1336A>C (p.Met446Leu) c.273+1469A>C (n.273+1469A>C) | |
| X | g.56565209A>G | CA413380357 | UBQLN2 | c.1336A>G (p.Met446Val) c.273+1469A>G (n.273+1469A>G) | |
| X | g.56565209A>T | CA413380358 | UBQLN2 | c.1336A>T (p.Met446Leu) c.273+1469A>T (n.273+1469A>T) | gnomAD v4 |
| X | g.56565210T>A | CA413380359 | UBQLN2 | c.1337T>A (p.Met446Lys) c.273+1470T>A (n.273+1470T>A) | |
| X | g.56565210T>C | CA413380360 | UBQLN2 | c.1337T>C (p.Met446Thr) c.273+1470T>C (n.273+1470T>C) | |
| X | g.56565210T>G | CA413380361 | UBQLN2 | c.1337T>G (p.Met446Arg) c.273+1470T>G (n.273+1470T>G) | dbSNP |
| X | g.56565210T= | CA2431031019 | UBQLN2 | c.1337T= (p.Met446=) c.273+1470T= (n.273+1470T=) | |
| X | g.56565211G>A | CA413380364 | UBQLN2 | c.1338G>A (p.Met446Ile) c.273+1471G>A (n.273+1471G>A) | |
| X | g.56565211G>C | CA413380362 | UBQLN2 | c.1338G>C (p.Met446Ile) c.273+1471G>C (n.273+1471G>C) | |
| X | g.56565211G>T | CA413380363 | UBQLN2 | c.1338G>T (p.Met446Ile) c.273+1471G>T (n.273+1471G>T) | |
| X | g.56565212T>A | CA413380365 | UBQLN2 | c.1339T>A (p.Ser447Thr) c.273+1472T>A (n.273+1472T>A) | dbSNP |
| X | g.56565212T>C | CA413380366 | UBQLN2 | c.1339T>C (p.Ser447Pro) c.273+1472T>C (n.273+1472T>C) | |
| X | g.56565212T>G | CA413380367 | UBQLN2 | c.1339T>G (p.Ser447Ala) c.273+1472T>G (n.273+1472T>G) | dbSNP |
| X | g.56565212T= | CA2431031020 | UBQLN2 | c.1339T= (p.Ser447=) c.273+1472T= (n.273+1472T=) | |
| X | g.56565213C>A | CA413380368 | UBQLN2 | c.1340C>A (p.Ser447Ter) c.273+1473C>A (n.273+1473C>A) | |
| X | g.56565213C= | CA2431031021 | UBQLN2 | c.1340C= (p.Ser447=) c.273+1473C= (n.273+1473C=) | |
| X | g.56565213C>G | CA413380369 | UBQLN2 | c.1340C>G (p.Ser447Ter) c.273+1473C>G (n.273+1473C>G) | |
| X | g.56565213C>T | CA10430154 | UBQLN2 | c.1340C>T (p.Ser447Leu) c.273+1473C>T (n.273+1473C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.56565214A>C | CA516701376 | UBQLN2 | c.1341A>C (p.Ser447=) c.273+1474A>C (n.273+1474A>C) | |
| X | g.56565214A>G | CA516701377 | UBQLN2 | c.1341A>G (p.Ser447=) c.273+1474A>G (n.273+1474A>G) | |
| X | g.56565214A>T | CA516701378 | UBQLN2 | c.1341A>T (p.Ser447=) c.273+1474A>T (n.273+1474A>T) | |
| X | g.56565215A>C | CA413380370 | UBQLN2 | c.1342A>C (p.Asn448His) c.273+1475A>C (n.273+1475A>C) | |
| X | g.56565215A>G | CA413380371 | UBQLN2 | c.1342A>G (p.Asn448Asp) c.273+1475A>G (n.273+1475A>G) | |
| X | g.56565215A>T | CA413380372 | UBQLN2 | c.1342A>T (p.Asn448Tyr) c.273+1475A>T (n.273+1475A>T) | |
| X | g.56565216A>C | CA413380373 | UBQLN2 | c.1343A>C (p.Asn448Thr) c.273+1476A>C (n.273+1476A>C) | |
| X | g.56565216A>G | CA413380374 | UBQLN2 | c.1343A>G (p.Asn448Ser) c.273+1476A>G (n.273+1476A>G) | |
| X | g.56565216A>T | CA413380375 | UBQLN2 | c.1343A>T (p.Asn448Ile) c.273+1476A>T (n.273+1476A>T) | |
| X | g.56565217C>A | CA413380377 | UBQLN2 | c.1344C>A (p.Asn448Lys) c.273+1477C>A (n.273+1477C>A) | |
| X | g.56565217C= | CA2431031022 | UBQLN2 | c.1344C= (p.Asn448=) c.273+1477C= (n.273+1477C=) | |
| X | g.56565217C>G | CA413380376 | UBQLN2 | c.1344C>G (p.Asn448Lys) c.273+1477C>G (n.273+1477C>G) | |
| X | g.56565217C>T | CA516701379 | UBQLN2 | c.1344C>T (p.Asn448=) c.273+1477C>T (n.273+1477C>T) | dbSNP |
| X | g.56565218C>A | CA413380378 | UBQLN2 | c.1345C>A (p.Pro449Thr) c.273+1478C>A (n.273+1478C>A) | |
| X | g.56565218C= | CA2431031023 | UBQLN2 | c.1345C= (p.Pro449=) c.273+1478C= (n.273+1478C=) | |
| X | g.56565218C>G | CA10430155 | UBQLN2 | c.1345C>G (p.Pro449Ala) c.273+1478C>G (n.273+1478C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565218C>T | CA413380379 | UBQLN2 | c.1345C>T (p.Pro449Ser) c.273+1478C>T (n.273+1478C>T) | |
| X | g.56565219C>A | CA413380380 | UBQLN2 | c.1346C>A (p.Pro449Gln) c.273+1479C>A (n.273+1479C>A) | |
| X | g.56565219C>G | CA413380381 | UBQLN2 | c.1346C>G (p.Pro449Arg) c.273+1479C>G (n.273+1479C>G) | |
| X | g.56565219C>T | CA413380382 | UBQLN2 | c.1346C>T (p.Pro449Leu) c.273+1479C>T (n.273+1479C>T) | |
| X | g.56565220A= | CA2431031024 | UBQLN2 | c.1347A= (p.Pro449=) c.273+1480A= (n.273+1480A=) | |
| X | g.56565220A>C | CA516701380 | UBQLN2 | c.1347A>C (p.Pro449=) c.273+1480A>C (n.273+1480A>C) | |
| X | g.56565220A>G | CA516701381 | UBQLN2 | c.1347A>G (p.Pro449=) c.273+1480A>G (n.273+1480A>G) | dbSNP gnomAD v4 |
| X | g.56565220A>T | CA516701382 | UBQLN2 | c.1347A>T (p.Pro449=) c.273+1480A>T (n.273+1480A>T) | |
| X | g.56565221A>C | CA516701383 | UBQLN2 | c.1348A>C (p.Arg450=) c.273+1481A>C (n.273+1481A>C) | |
| X | g.56565221A>G | CA413380383 | UBQLN2 | c.1348A>G (p.Arg450Gly) c.273+1481A>G (n.273+1481A>G) | |
| X | g.56565221A>T | CA413380384 | UBQLN2 | c.1348A>T (p.Arg450Ter) c.273+1481A>T (n.273+1481A>T) | |
| X | g.56565222G>A | CA413380385 | UBQLN2 | c.1349G>A (p.Arg450Lys) c.273+1482G>A (n.273+1482G>A) | |
| X | g.56565222G>C | CA413380387 | UBQLN2 | c.1349G>C (p.Arg450Thr) c.273+1482G>C (n.273+1482G>C) | |
| X | g.56565222G>T | CA413380386 | UBQLN2 | c.1349G>T (p.Arg450Ile) c.273+1482G>T (n.273+1482G>T) | |
| X | g.56565223A>C | CA413380388 | UBQLN2 | c.1350A>C (p.Arg450Ser) c.273+1483A>C (n.273+1483A>C) | |
| X | g.56565223A>G | CA516701384 | UBQLN2 | c.1350A>G (p.Arg450=) c.273+1483A>G (n.273+1483A>G) | |
| X | g.56565223A>T | CA413380389 | UBQLN2 | c.1350A>T (p.Arg450Ser) c.273+1483A>T (n.273+1483A>T) | |
| X | g.56565224G>A | CA413380390 | UBQLN2 | c.1351G>A (p.Ala451Thr) c.273+1484G>A (n.273+1484G>A) | |
| X | g.56565224G>C | CA413380391 | UBQLN2 | c.1351G>C (p.Ala451Pro) c.273+1484G>C (n.273+1484G>C) | |
| X | g.56565224G>T | CA413380392 | UBQLN2 | c.1351G>T (p.Ala451Ser) c.273+1484G>T (n.273+1484G>T) | |
| X | g.56565225C>A | CA413380393 | UBQLN2 | c.1352C>A (p.Ala451Glu) c.273+1485C>A (n.273+1485C>A) | gnomAD v4 |
| X | g.56565225C>G | CA413380395 | UBQLN2 | c.1352C>G (p.Ala451Gly) c.273+1485C>G (n.273+1485C>G) | |
| X | g.56565225C>T | CA413380394 | UBQLN2 | c.1352C>T (p.Ala451Val) c.273+1485C>T (n.273+1485C>T) | |
| X | g.56565226A= | CA2431031025 | UBQLN2 | c.1353A= (p.Ala451=) c.273+1486A= (n.273+1486A=) | |
| X | g.56565226A>C | CA516701385 | UBQLN2 | c.1353A>C (p.Ala451=) c.273+1486A>C (n.273+1486A>C) | |
| X | g.56565226A>G | CA516701386 | UBQLN2 | c.1353A>G (p.Ala451=) c.273+1486A>G (n.273+1486A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.56565226A>T | CA516701387 | UBQLN2 | c.1353A>T (p.Ala451=) c.273+1486A>T (n.273+1486A>T) | |
| X | g.56565227A= | CA2431031026 | UBQLN2 | c.1354A= (p.Met452=) c.273+1487A= (n.273+1487A=) | |
| X | g.56565227A>C | CA413380396 | UBQLN2 | c.1354A>C (p.Met452Leu) c.273+1487A>C (n.273+1487A>C) | |
| X | g.56565227A>G | CA10430156 | UBQLN2 | c.1354A>G (p.Met452Val) c.273+1487A>G (n.273+1487A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.56565227A>T | CA413380397 | UBQLN2 | c.1354A>T (p.Met452Leu) c.273+1487A>T (n.273+1487A>T) | |
| X | g.56565227_56565228insACACACCCAACACA | CA2821061399 | UBQLN2 | c.1354_1355insACACACCCAACACA (p.Met452AsnfsTer9) c.273+1487_273+1488insACACACCCAACACA (n.273+1487_273+1488insACACACCCAACACA) | |
| X | g.56565228T>A | CA413380398 | UBQLN2 | c.1355T>A (p.Met452Lys) c.273+1488T>A (n.273+1488T>A) | |
| X | g.56565228T>C | CA413380399 | UBQLN2 | c.1355T>C (p.Met452Thr) c.273+1488T>C (n.273+1488T>C) | |
| X | g.56565228T>G | CA413380400 | UBQLN2 | c.1355T>G (p.Met452Arg) c.273+1488T>G (n.273+1488T>G) | |
| X | g.56565229G>A | CA413380401 | UBQLN2 | c.1356G>A (p.Met452Ile) c.273+1489G>A (n.273+1489G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.56565229G>C | CA413380402 | UBQLN2 | c.1356G>C (p.Met452Ile) c.273+1489G>C (n.273+1489G>C) | |
| X | g.56565229G= | CA2431031027 | UBQLN2 | c.1356G= (p.Met452=) c.273+1489G= (n.273+1489G=) | |
| X | g.56565229G>T | CA413380403 | UBQLN2 | c.1356G>T (p.Met452Ile) c.273+1489G>T (n.273+1489G>T) | |
| X | g.56565230C>A | CA413380404 | UBQLN2 | c.1357C>A (p.Gln453Lys) c.273+1490C>A (n.273+1490C>A) | |
| X | g.56565230C>G | CA413380405 | UBQLN2 | c.1357C>G (p.Gln453Glu) c.273+1490C>G (n.273+1490C>G) | |
| X | g.56565230C>T | CA413380406 | UBQLN2 | c.1357C>T (p.Gln453Ter) c.273+1490C>T (n.273+1490C>T) | |
| X | g.56565231del | CA2579625944 | UBQLN2 | c.1358del (p.Gln453ArgfsTer3) c.273+1491del (n.273+1491del) | |
| X | g.56565231A>C | CA413380407 | UBQLN2 | c.1358A>C (p.Gln453Pro) c.273+1491A>C (n.273+1491A>C) | |
| X | g.56565231A>G | CA413380409 | UBQLN2 | c.1358A>G (p.Gln453Arg) c.273+1491A>G (n.273+1491A>G) | |
| X | g.56565231A>T | CA413380408 | UBQLN2 | c.1358A>T (p.Gln453Leu) c.273+1491A>T (n.273+1491A>T) | |
| X | g.56565232G>A | CA516701388 | UBQLN2 | c.1359G>A (p.Gln453=) c.273+1492G>A (n.273+1492G>A) | |
| X | g.56565232G>C | CA413380410 | UBQLN2 | c.1359G>C (p.Gln453His) c.273+1492G>C (n.273+1492G>C) | |
| X | g.56565232G>T | CA413380411 | UBQLN2 | c.1359G>T (p.Gln453His) c.273+1492G>T (n.273+1492G>T) | |
| X | g.56565233G>A | CA413380412 | UBQLN2 | c.1360G>A (p.Ala454Thr) c.273+1493G>A (n.273+1493G>A) | |
| X | g.56565233G>C | CA413380413 | UBQLN2 | c.1360G>C (p.Ala454Pro) c.273+1493G>C (n.273+1493G>C) | |
| X | g.56565233G>T | CA413380414 | UBQLN2 | c.1360G>T (p.Ala454Ser) c.273+1493G>T (n.273+1493G>T) | |
| X | g.56565234C>A | CA413380415 | UBQLN2 | c.1361C>A (p.Ala454Asp) c.273+1494C>A (n.273+1494C>A) | |
| X | g.56565234C>G | CA413380416 | UBQLN2 | c.1361C>G (p.Ala454Gly) c.273+1494C>G (n.273+1494C>G) | |
| X | g.56565234C>T | CA413380417 | UBQLN2 | c.1361C>T (p.Ala454Val) c.273+1494C>T (n.273+1494C>T) | |
| X | g.56565235T>A | CA516701390 | UBQLN2 | c.1362T>A (p.Ala454=) c.273+1495T>A (n.273+1495T>A) | |
| X | g.56565235T>C | CA516701391 | UBQLN2 | c.1362T>C (p.Ala454=) c.273+1495T>C (n.273+1495T>C) | |
| X | g.56565235T>G | CA516701389 | UBQLN2 | c.1362T>G (p.Ala454=) c.273+1495T>G (n.273+1495T>G) | |
| X | g.56565236T>A | CA413380418 | UBQLN2 | c.1363T>A (p.Leu455Ile) c.273+1496T>A (n.273+1496T>A) | |
| X | g.56565236T>C | CA516701392 | UBQLN2 | c.1363T>C (p.Leu455=) c.273+1496T>C (n.273+1496T>C) | |
| X | g.56565236T>G | CA413380419 | UBQLN2 | c.1363T>G (p.Leu455Val) c.273+1496T>G (n.273+1496T>G) | |
| X | g.56565237T>A | CA413380420 | UBQLN2 | c.1364T>A (p.Leu455Ter) c.273+1497T>A (n.273+1497T>A) | |
| X | g.56565237T>C | CA413380421 | UBQLN2 | c.1364T>C (p.Leu455Ser) c.273+1497T>C (n.273+1497T>C) | |
| X | g.56565237T>G | CA413380422 | UBQLN2 | c.1364T>G (p.Leu455Ter) c.273+1497T>G (n.273+1497T>G) | |
| X | g.56565238A= | CA2431031028 | UBQLN2 | c.1365A= (p.Leu455=) c.273+1498A= (n.273+1498A=) | |
| X | g.56565238A>C | CA413380424 | UBQLN2 | c.1365A>C (p.Leu455Phe) c.273+1498A>C (n.273+1498A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.56565238A>G | CA516701393 | UBQLN2 | c.1365A>G (p.Leu455=) c.273+1498A>G (n.273+1498A>G) | gnomAD v4 |
| X | g.56565238A>T | CA413380423 | UBQLN2 | c.1365A>T (p.Leu455Phe) c.273+1498A>T (n.273+1498A>T) | |
| X | g.56565239A>C | CA413380425 | UBQLN2 | c.1366A>C (p.Met456Leu) c.273+1499A>C (n.273+1499A>C) | |
| X | g.56565239A>G | CA413380426 | UBQLN2 | c.1366A>G (p.Met456Val) c.273+1499A>G (n.273+1499A>G) | |
| X | g.56565239A>T | CA413380427 | UBQLN2 | c.1366A>T (p.Met456Leu) c.273+1499A>T (n.273+1499A>T) | |
| X | g.56565240T>A | CA413380428 | UBQLN2 | c.1367T>A (p.Met456Lys) c.273+1500T>A (n.273+1500T>A) | |
| X | g.56565240T>C | CA413380429 | UBQLN2 | c.1367T>C (p.Met456Thr) c.273+1500T>C (n.273+1500T>C) | |
| X | g.56565240T>G | CA413380430 | UBQLN2 | c.1367T>G (p.Met456Arg) c.273+1500T>G (n.273+1500T>G) | |
| X | g.56565241G>A | CA413380431 | UBQLN2 | c.1368G>A (p.Met456Ile) c.273+1501G>A (n.273+1501G>A) | |
| X | g.56565241G>C | CA413380432 | UBQLN2 | c.1368G>C (p.Met456Ile) c.273+1501G>C (n.273+1501G>C) | |
| X | g.56565241G>T | CA413380433 | UBQLN2 | c.1368G>T (p.Met456Ile) c.273+1501G>T (n.273+1501G>T) | |
| X | g.56565242C>A | CA413380434 | UBQLN2 | c.1369C>A (p.Gln457Lys) c.273+1502C>A (n.273+1502C>A) | |
| X | g.56565242C>G | CA413380435 | UBQLN2 | c.1369C>G (p.Gln457Glu) c.273+1502C>G (n.273+1502C>G) | |
| X | g.56565242C>T | CA413380436 | UBQLN2 | c.1369C>T (p.Gln457Ter) c.273+1502C>T (n.273+1502C>T) | |
| X | g.56565243A>C | CA413380437 | UBQLN2 | c.1370A>C (p.Gln457Pro) c.273+1503A>C (n.273+1503A>C) | |
| X | g.56565243A>G | CA413380439 | UBQLN2 | c.1370A>G (p.Gln457Arg) c.273+1503A>G (n.273+1503A>G) | |
| X | g.56565243A>T | CA413380438 | UBQLN2 | c.1370A>T (p.Gln457Leu) c.273+1503A>T (n.273+1503A>T) | |
| X | g.56565244G>A | CA516701394 | UBQLN2 | c.1371G>A (p.Gln457=) c.273+1504G>A (n.273+1504G>A) | |
| X | g.56565244G>C | CA413380440 | UBQLN2 | c.1371G>C (p.Gln457His) c.273+1504G>C (n.273+1504G>C) | gnomAD v4 |
| X | g.56565244G>T | CA413380441 | UBQLN2 | c.1371G>T (p.Gln457His) c.273+1504G>T (n.273+1504G>T) | |
| X | g.56565245A>C | CA413380442 | UBQLN2 | c.1372A>C (p.Ile458Leu) c.273+1505A>C (n.273+1505A>C) | |
| X | g.56565245A>G | CA413380444 | UBQLN2 | c.1372A>G (p.Ile458Val) c.273+1505A>G (n.273+1505A>G) | |
| X | g.56565245A>T | CA413380443 | UBQLN2 | c.1372A>T (p.Ile458Phe) c.273+1505A>T (n.273+1505A>T) | |
| X | g.56565246T>A | CA413380445 | UBQLN2 | c.1373T>A (p.Ile458Asn) c.273+1506T>A (n.273+1506T>A) | |
| X | g.56565246T>C | CA413380446 | UBQLN2 | c.1373T>C (p.Ile458Thr) c.273+1506T>C (n.273+1506T>C) | |
| X | g.56565246T>G | CA413380447 | UBQLN2 | c.1373T>G (p.Ile458Ser) c.273+1506T>G (n.273+1506T>G) | |
| X | g.56565247C>A | CA516701395 | UBQLN2 | c.1374C>A (p.Ile458=) c.273+1507C>A (n.273+1507C>A) | |
| X | g.56565247C= | CA2431031029 | UBQLN2 | c.1374C= (p.Ile458=) c.273+1507C= (n.273+1507C=) | |
| X | g.56565247C>G | CA330041889 | UBQLN2 | c.1374C>G (p.Ile458Met) c.273+1507C>G (n.273+1507C>G) | dbSNP |
| X | g.56565247C>T | CA516701396 | UBQLN2 | c.1374C>T (p.Ile458=) c.273+1507C>T (n.273+1507C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.56565248C>A | CA413380448 | UBQLN2 | c.1375C>A (p.Gln459Lys) c.273+1508C>A (n.273+1508C>A) | |
| X | g.56565248C>G | CA413380449 | UBQLN2 | c.1375C>G (p.Gln459Glu) c.273+1508C>G (n.273+1508C>G) | |
| X | g.56565248C>T | CA413380450 | UBQLN2 | c.1375C>T (p.Gln459Ter) c.273+1508C>T (n.273+1508C>T) | |
| X | g.56565249A>C | CA413380451 | UBQLN2 | c.1376A>C (p.Gln459Pro) c.273+1509A>C (n.273+1509A>C) | |
| X | g.56565249A>G | CA413380452 | UBQLN2 | c.1376A>G (p.Gln459Arg) c.273+1509A>G (n.273+1509A>G) | |
| X | g.56565249A>T | CA413380453 | UBQLN2 | c.1376A>T (p.Gln459Leu) c.273+1509A>T (n.273+1509A>T) | |
| X | g.56565250G>A | CA516701397 | UBQLN2 | c.1377G>A (p.Gln459=) c.273+1510G>A (n.273+1510G>A) | |
| X | g.56565250G>C | CA413380454 | UBQLN2 | c.1377G>C (p.Gln459His) c.273+1510G>C (n.273+1510G>C) | |
| X | g.56565250G= | CA2431031030 | UBQLN2 | c.1377G= (p.Gln459=) c.273+1510G= (n.273+1510G=) | |
| X | g.56565250G>T | CA10430157 | UBQLN2 | c.1377G>T (p.Gln459His) c.273+1510G>T (n.273+1510G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565251C>A | CA413380457 | UBQLN2 | c.1378C>A (p.Gln460Lys) c.273+1511C>A (n.273+1511C>A) | |
| X | g.56565251C>G | CA413380455 | UBQLN2 | c.1378C>G (p.Gln460Glu) c.273+1511C>G (n.273+1511C>G) | |
| X | g.56565251C>T | CA413380456 | UBQLN2 | c.1378C>T (p.Gln460Ter) c.273+1511C>T (n.273+1511C>T) | |
| X | g.56565252A>C | CA413380458 | UBQLN2 | c.1379A>C (p.Gln460Pro) c.273+1512A>C (n.273+1512A>C) | |
| X | g.56565252A>G | CA413380459 | UBQLN2 | c.1379A>G (p.Gln460Arg) c.273+1512A>G (n.273+1512A>G) | |
| X | g.56565252A>T | CA413380460 | UBQLN2 | c.1379A>T (p.Gln460Leu) c.273+1512A>T (n.273+1512A>T) | |
| X | g.56565253G>A | CA516701398 | UBQLN2 | c.1380G>A (p.Gln460=) c.273+1513G>A (n.273+1513G>A) | |
| X | g.56565253G>C | CA413380461 | UBQLN2 | c.1380G>C (p.Gln460His) c.273+1513G>C (n.273+1513G>C) | dbSNP |
| X | g.56565253G= | CA2431031031 | UBQLN2 | c.1380G= (p.Gln460=) c.273+1513G= (n.273+1513G=) | |
| X | g.56565253G>T | CA413380462 | UBQLN2 | c.1380G>T (p.Gln460His) c.273+1513G>T (n.273+1513G>T) | |
| X | g.56565254G>A | CA413380463 | UBQLN2 | c.1381G>A (p.Gly461Arg) c.273+1514G>A (n.273+1514G>A) | |
| X | g.56565254G>C | CA413380464 | UBQLN2 | c.1381G>C (p.Gly461Arg) c.273+1514G>C (n.273+1514G>C) | |
| X | g.56565254G>T | CA413380465 | UBQLN2 | c.1381G>T (p.Gly461Trp) c.273+1514G>T (n.273+1514G>T) | |
| X | g.56565255G>A | CA413380466 | UBQLN2 | c.1382G>A (p.Gly461Glu) c.273+1515G>A (n.273+1515G>A) | |
| X | g.56565255G>C | CA413380467 | UBQLN2 | c.1382G>C (p.Gly461Ala) c.273+1515G>C (n.273+1515G>C) | |
| X | g.56565255G>T | CA413380468 | UBQLN2 | c.1382G>T (p.Gly461Val) c.273+1515G>T (n.273+1515G>T) | |
| X | g.56565256G>A | CA10430158 | UBQLN2 | c.1383G>A (p.Gly461=) c.273+1516G>A (n.273+1516G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.56565256G>C | CA516701400 | UBQLN2 | c.1383G>C (p.Gly461=) c.273+1516G>C (n.273+1516G>C) | |
| X | g.56565256G= | CA2431031032 | UBQLN2 | c.1383G= (p.Gly461=) c.273+1516G= (n.273+1516G=) | |
| X | g.56565256G>T | CA516701399 | UBQLN2 | c.1383G>T (p.Gly461=) c.273+1516G>T (n.273+1516G>T) | |
| X | g.56565257C>A | CA413380470 | UBQLN2 | c.1384C>A (p.Leu462Ile) c.273+1517C>A (n.273+1517C>A) | |
| X | g.56565257C= | CA2431031033 | UBQLN2 | c.1384C= (p.Leu462=) c.273+1517C= (n.273+1517C=) | |
| X | g.56565257C>G | CA413380469 | UBQLN2 | c.1384C>G (p.Leu462Val) c.273+1517C>G (n.273+1517C>G) | |
| X | g.56565257C>T | CA516701401 | UBQLN2 | c.1384C>T (p.Leu462=) c.273+1517C>T (n.273+1517C>T) | dbSNP gnomAD v4 |
| X | g.56565258T>A | CA413380471 | UBQLN2 | c.1385T>A (p.Leu462Gln) c.273+1518T>A (n.273+1518T>A) | |
| X | g.56565258T>C | CA413380472 | UBQLN2 | c.1385T>C (p.Leu462Pro) c.273+1518T>C (n.273+1518T>C) | gnomAD v4 |
| X | g.56565258T>G | CA413380473 | UBQLN2 | c.1385T>G (p.Leu462Arg) c.273+1518T>G (n.273+1518T>G) | |
| X | g.56565259A>C | CA516701404 | UBQLN2 | c.1386A>C (p.Leu462=) c.273+1519A>C (n.273+1519A>C) | |
| X | g.56565259A>G | CA516701403 | UBQLN2 | c.1386A>G (p.Leu462=) c.273+1519A>G (n.273+1519A>G) | |
| X | g.56565259A>T | CA516701402 | UBQLN2 | c.1386A>T (p.Leu462=) c.273+1519A>T (n.273+1519A>T) | |
| X | g.56565260C>A | CA413380474 | UBQLN2 | c.1387C>A (p.Gln463Lys) c.273+1520C>A (n.273+1520C>A) | |
| X | g.56565260C>G | CA413380475 | UBQLN2 | c.1387C>G (p.Gln463Glu) c.273+1520C>G (n.273+1520C>G) | |
| X | g.56565260C>T | CA413380476 | UBQLN2 | c.1387C>T (p.Gln463Ter) c.273+1520C>T (n.273+1520C>T) | |
| X | g.56565261A>C | CA413380479 | UBQLN2 | c.1388A>C (p.Gln463Pro) c.273+1521A>C (n.273+1521A>C) | |
| X | g.56565261A>G | CA413380477 | UBQLN2 | c.1388A>G (p.Gln463Arg) c.273+1521A>G (n.273+1521A>G) | |
| X | g.56565261A>T | CA413380478 | UBQLN2 | c.1388A>T (p.Gln463Leu) c.273+1521A>T (n.273+1521A>T) | |
| X | g.56565262G>A | CA516701405 | UBQLN2 | c.1389G>A (p.Gln463=) c.273+1522G>A (n.273+1522G>A) | |
| X | g.56565262G>C | CA413380480 | UBQLN2 | c.1389G>C (p.Gln463His) c.273+1522G>C (n.273+1522G>C) | |
| X | g.56565262G>T | CA413380481 | UBQLN2 | c.1389G>T (p.Gln463His) c.273+1522G>T (n.273+1522G>T) | |
| X | g.56565263A>C | CA413380482 | UBQLN2 | c.1390A>C (p.Thr464Pro) c.273+1523A>C (n.273+1523A>C) | |
| X | g.56565263A>G | CA413380483 | UBQLN2 | c.1390A>G (p.Thr464Ala) c.273+1523A>G (n.273+1523A>G) | |
| X | g.56565263A>T | CA413380484 | UBQLN2 | c.1390A>T (p.Thr464Ser) c.273+1523A>T (n.273+1523A>T) | |
| X | g.56565264C>A | CA413380486 | UBQLN2 | c.1391C>A (p.Thr464Lys) c.273+1524C>A (n.273+1524C>A) | |
| X | g.56565264C= | CA2431031034 | UBQLN2 | c.1391C= (p.Thr464=) c.273+1524C= (n.273+1524C=) | |
| X | g.56565264C>G | CA413380485 | UBQLN2 | c.1391C>G (p.Thr464Arg) c.273+1524C>G (n.273+1524C>G) | |
| X | g.56565264C>T | CA10430159 | UBQLN2 | c.1391C>T (p.Thr464Ile) c.273+1524C>T (n.273+1524C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.56565265A>C | CA516701406 | UBQLN2 | c.1392A>C (p.Thr464=) c.273+1525A>C (n.273+1525A>C) | gnomAD v4 |
| X | g.56565265A>G | CA516701407 | UBQLN2 | c.1392A>G (p.Thr464=) c.273+1525A>G (n.273+1525A>G) | |
| X | g.56565265A>T | CA516701408 | UBQLN2 | c.1392A>T (p.Thr464=) c.273+1525A>T (n.273+1525A>T) | |
| X | g.56565266T>A | CA413380487 | UBQLN2 | c.1393T>A (p.Leu465Ile) c.273+1526T>A (n.273+1526T>A) | |
| X | g.56565266T>C | CA516701409 | UBQLN2 | c.1393T>C (p.Leu465=) c.273+1526T>C (n.273+1526T>C) | |
| X | g.56565266T>G | CA413380488 | UBQLN2 | c.1393T>G (p.Leu465Val) c.273+1526T>G (n.273+1526T>G) | |
| X | g.56565267del | CA2821061406 | UBQLN2 | c.1394del (p.Leu465Ter) c.273+1527del (n.273+1527del) | |
| X | g.56565267T>A | CA413380489 | UBQLN2 | c.1394T>A (p.Leu465Ter) c.273+1527T>A (n.273+1527T>A) | |
| X | g.56565267T>C | CA413380490 | UBQLN2 | c.1394T>C (p.Leu465Ser) c.273+1527T>C (n.273+1527T>C) | |
| X | g.56565267T>G | CA413380491 | UBQLN2 | c.1394T>G (p.Leu465Ter) c.273+1527T>G (n.273+1527T>G) | |
| X | g.56565268A>C | CA413380492 | UBQLN2 | c.1395A>C (p.Leu465Phe) c.273+1528A>C (n.273+1528A>C) | |
| X | g.56565268A>G | CA516701410 | UBQLN2 | c.1395A>G (p.Leu465=) c.273+1528A>G (n.273+1528A>G) | |
| X | g.56565268A>T | CA413380493 | UBQLN2 | c.1395A>T (p.Leu465Phe) c.273+1528A>T (n.273+1528A>T) | |
| X | g.56565269G>A | CA413380494 | UBQLN2 | c.1396G>A (p.Ala466Thr) c.273+1529G>A (n.273+1529G>A) | gnomAD v4 |
| X | g.56565269G>C | CA413380495 | UBQLN2 | c.1396G>C (p.Ala466Pro) c.273+1529G>C (n.273+1529G>C) | |
| X | g.56565269G>T | CA413380496 | UBQLN2 | c.1396G>T (p.Ala466Ser) c.273+1529G>T (n.273+1529G>T) | |
| X | g.56565270C>A | CA413380497 | UBQLN2 | c.1397C>A (p.Ala466Asp) c.273+1530C>A (n.273+1530C>A) | |
| X | g.56565270C= | CA2431031035 | UBQLN2 | c.1397C= (p.Ala466=) c.273+1530C= (n.273+1530C=) | |
| X | g.56565270C>G | CA10430160 | UBQLN2 | c.1397C>G (p.Ala466Gly) c.273+1530C>G (n.273+1530C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.56565270C>T | CA413380498 | UBQLN2 | c.1397C>T (p.Ala466Val) c.273+1530C>T (n.273+1530C>T) | |
| X | g.56565271C>A | CA516701411 | UBQLN2 | c.1398C>A (p.Ala466=) c.273+1531C>A (n.273+1531C>A) | |
| X | g.56565271C>G | CA516701412 | UBQLN2 | c.1398C>G (p.Ala466=) c.273+1531C>G (n.273+1531C>G) | |
| X | g.56565271C>T | CA516701413 | UBQLN2 | c.1398C>T (p.Ala466=) c.273+1531C>T (n.273+1531C>T) | |
| X | g.56565272A>C | CA413380499 | UBQLN2 | c.1399A>C (p.Thr467Pro) c.273+1532A>C (n.273+1532A>C) | |
| X | g.56565272A>G | CA413380501 | UBQLN2 | c.1399A>G (p.Thr467Ala) c.273+1532A>G (n.273+1532A>G) | |
| X | g.56565272A>T | CA413380500 | UBQLN2 | c.1399A>T (p.Thr467Ser) c.273+1532A>T (n.273+1532A>T) | |
| X | g.56565273C>A | CA413380502 | UBQLN2 | c.1400C>A (p.Thr467Asn) c.273+1533C>A (n.273+1533C>A) | |
| X | g.56565273C= | CA2431031036 | UBQLN2 | c.1400C= (p.Thr467=) c.273+1533C= (n.273+1533C=) | |
| X | g.56565273C>G | CA413380504 | UBQLN2 | c.1400C>G (p.Thr467Ser) c.273+1533C>G (n.273+1533C>G) | gnomAD v4 |
| X | g.56565273C>T | CA413380503 | UBQLN2 | c.1400C>T (p.Thr467Ile) c.273+1533C>T (n.273+1533C>T) | dbSNP |
| X | g.56565274T>A | CA516701414 | UBQLN2 | c.1401T>A (p.Thr467=) c.273+1534T>A (n.273+1534T>A) | |
| X | g.56565274T>C | CA516701415 | UBQLN2 | c.1401T>C (p.Thr467=) c.273+1534T>C (n.273+1534T>C) | gnomAD v4 |
| X | g.56565274T>G | CA516701416 | UBQLN2 | c.1401T>G (p.Thr467=) c.273+1534T>G (n.273+1534T>G) | |
| X | g.56565275G>A | CA413380505 | UBQLN2 | c.1402G>A (p.Glu468Lys) c.273+1535G>A (n.273+1535G>A) | |
| X | g.56565275G>C | CA413380506 | UBQLN2 | c.1402G>C (p.Glu468Gln) c.273+1535G>C (n.273+1535G>C) | |
| X | g.56565275G>T | CA413380507 | UBQLN2 | c.1402G>T (p.Glu468Ter) c.273+1535G>T (n.273+1535G>T) | |
| X | g.56565276A>C | CA413380508 | UBQLN2 | c.1403A>C (p.Glu468Ala) c.273+1536A>C (n.273+1536A>C) | |
| X | g.56565276A>G | CA413380509 | UBQLN2 | c.1403A>G (p.Glu468Gly) c.273+1536A>G (n.273+1536A>G) | |
| X | g.56565276A>T | CA413380510 | UBQLN2 | c.1403A>T (p.Glu468Val) c.273+1536A>T (n.273+1536A>T) | |
| X | g.56565277A>C | CA413380511 | UBQLN2 | c.1404A>C (p.Glu468Asp) c.273+1537A>C (n.273+1537A>C) | |
| X | g.56565277A>G | CA516701417 | UBQLN2 | c.1404A>G (p.Glu468=) c.273+1537A>G (n.273+1537A>G) | |
| X | g.56565277A>T | CA413380512 | UBQLN2 | c.1404A>T (p.Glu468Asp) c.273+1537A>T (n.273+1537A>T) | |
| X | g.56565278G>A | CA330041890 | UBQLN2 | c.1405G>A (p.Ala469Thr) c.273+1538G>A (n.273+1538G>A) | dbSNP gnomAD v2 |
| X | g.56565278G>C | CA413380513 | UBQLN2 | c.1405G>C (p.Ala469Pro) c.273+1538G>C (n.273+1538G>C) | |
| X | g.56565278G= | CA2431031037 | UBQLN2 | c.1405G= (p.Ala469=) c.273+1538G= (n.273+1538G=) | |
| X | g.56565278G>T | CA413380514 | UBQLN2 | c.1405G>T (p.Ala469Ser) c.273+1538G>T (n.273+1538G>T) | |
| X | g.56565279C>A | CA413380517 | UBQLN2 | c.1406C>A (p.Ala469Glu) c.273+1539C>A (n.273+1539C>A) | |
| X | g.56565279C>G | CA413380516 | UBQLN2 | c.1406C>G (p.Ala469Gly) c.273+1539C>G (n.273+1539C>G) | |
| X | g.56565279C>T | CA413380515 | UBQLN2 | c.1406C>T (p.Ala469Val) c.273+1539C>T (n.273+1539C>T) | |
| X | g.56565280A>C | CA516701418 | UBQLN2 | c.1407A>C (p.Ala469=) c.273+1540A>C (n.273+1540A>C) | |
| X | g.56565280A>G | CA516701419 | UBQLN2 | c.1407A>G (p.Ala469=) c.273+1540A>G (n.273+1540A>G) | dbSNP gnomAD v4 |
| X | g.56565280A>T | CA516701420 | UBQLN2 | c.1407A>T (p.Ala469=) c.273+1540A>T (n.273+1540A>T) | ClinVar |
| X | g.56565281C>A | CA413380518 | UBQLN2 | c.1408C>A (p.Pro470Thr) c.273+1541C>A (n.273+1541C>A) | |
| X | g.56565281C>G | CA413380519 | UBQLN2 | c.1408C>G (p.Pro470Ala) c.273+1541C>G (n.273+1541C>G) | |
| X | g.56565281C>T | CA413380520 | UBQLN2 | c.1408C>T (p.Pro470Ser) c.273+1541C>T (n.273+1541C>T) | |
| X | g.56565282C>A | CA413380521 | UBQLN2 | c.1409C>A (p.Pro470His) c.273+1542C>A (n.273+1542C>A) | |
| X | g.56565282C>G | CA413380522 | UBQLN2 | c.1409C>G (p.Pro470Arg) c.273+1542C>G (n.273+1542C>G) | |
| X | g.56565282C>T | CA413380523 | UBQLN2 | c.1409C>T (p.Pro470Leu) c.273+1542C>T (n.273+1542C>T) | |
| X | g.56565283T>A | CA516701421 | UBQLN2 | c.1410T>A (p.Pro470=) c.273+1543T>A (n.273+1543T>A) | |
| X | g.56565283T>C | CA516701422 | UBQLN2 | c.1410T>C (p.Pro470=) c.273+1543T>C (n.273+1543T>C) | |
| X | g.56565283T>G | CA516701423 | UBQLN2 | c.1410T>G (p.Pro470=) c.273+1543T>G (n.273+1543T>G) | |
| X | g.56565284G>A | CA413380524 | UBQLN2 | c.1411G>A (p.Gly471Ser) c.273+1544G>A (n.273+1544G>A) | |
| X | g.56565284G>C | CA413380525 | UBQLN2 | c.1411G>C (p.Gly471Arg) c.273+1544G>C (n.273+1544G>C) | |
| X | g.56565284G>T | CA413380526 | UBQLN2 | c.1411G>T (p.Gly471Cys) c.273+1544G>T (n.273+1544G>T) | |
| X | g.56565285del | CA2535926968 | UBQLN2 | c.1412del (p.Gly471AlafsTer2) c.273+1545del (n.273+1545del) | gnomAD v4 |
| X | g.56565285G>A | CA413380527 | UBQLN2 | c.1412G>A (p.Gly471Asp) c.273+1545G>A (n.273+1545G>A) | |
| X | g.56565285G>C | CA413380528 | UBQLN2 | c.1412G>C (p.Gly471Ala) c.273+1545G>C (n.273+1545G>C) | |
| X | g.56565285G>T | CA413380529 | UBQLN2 | c.1412G>T (p.Gly471Val) c.273+1545G>T (n.273+1545G>T) | |
| X | g.56565286C>A | CA516701424 | UBQLN2 | c.1413C>A (p.Gly471=) c.273+1546C>A (n.273+1546C>A) | |
| X | g.56565286C>G | CA516701425 | UBQLN2 | c.1413C>G (p.Gly471=) c.273+1546C>G (n.273+1546C>G) | |
| X | g.56565286C>T | CA516701426 | UBQLN2 | c.1413C>T (p.Gly471=) c.273+1546C>T (n.273+1546C>T) | |
| X | g.56565287C>A | CA413380530 | UBQLN2 | c.1414C>A (p.Leu472Met) c.273+1547C>A (n.273+1547C>A) | |
| X | g.56565287C= | CA2431031038 | UBQLN2 | c.1414C= (p.Leu472=) c.273+1547C= (n.273+1547C=) | |
| X | g.56565287C>G | CA413380531 | UBQLN2 | c.1414C>G (p.Leu472Val) c.273+1547C>G (n.273+1547C>G) | dbSNP |
| X | g.56565287C>T | CA516701427 | UBQLN2 | c.1414C>T (p.Leu472=) c.273+1547C>T (n.273+1547C>T) | |
| X | g.56565288T>A | CA413380532 | UBQLN2 | c.1415T>A (p.Leu472Gln) c.273+1548T>A (n.273+1548T>A) | |
| X | g.56565288T>C | CA413380533 | UBQLN2 | c.1415T>C (p.Leu472Pro) c.273+1548T>C (n.273+1548T>C) | |
| X | g.56565288T>G | CA413380534 | UBQLN2 | c.1415T>G (p.Leu472Arg) c.273+1548T>G (n.273+1548T>G) | |
| X | g.56565289G>A | CA10430161 | UBQLN2 | c.1416G>A (p.Leu472=) c.273+1549G>A (n.273+1549G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.56565289G>C | CA516701429 | UBQLN2 | c.1416G>C (p.Leu472=) c.273+1549G>C (n.273+1549G>C) | ClinVar |
| X | g.56565289G= | CA2431031039 | UBQLN2 | c.1416G= (p.Leu472=) c.273+1549G= (n.273+1549G=) | |
| X | g.56565289G>T | CA516701428 | UBQLN2 | c.1416G>T (p.Leu472=) c.273+1549G>T (n.273+1549G>T) | |
| X | g.56565290A>C | CA413380535 | UBQLN2 | c.1417A>C (p.Ile473Leu) c.273+1550A>C (n.273+1550A>C) | |
| X | g.56565290A>G | CA413380536 | UBQLN2 | c.1417A>G (p.Ile473Val) c.273+1550A>G (n.273+1550A>G) | ClinVar dbSNP |
| X | g.56565290A>T | CA413380537 | UBQLN2 | c.1417A>T (p.Ile473Phe) c.273+1550A>T (n.273+1550A>T) | |
| X | g.56565291T>A | CA413380538 | UBQLN2 | c.1418T>A (p.Ile473Asn) c.273+1551T>A (n.273+1551T>A) | |
| X | g.56565291T>C | CA413380539 | UBQLN2 | c.1418T>C (p.Ile473Thr) c.273+1551T>C (n.273+1551T>C) | |
| X | g.56565291T>G | CA413380540 | UBQLN2 | c.1418T>G (p.Ile473Ser) c.273+1551T>G (n.273+1551T>G) | |
| X | g.56565292dup | CA516701430 | UBQLN2 | c.1419dup (p.Pro474SerfsTer?) c.273+1552dup (n.273+1552dup) | COSMIC |