Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.125057608A= | CA1817263406 | WASHC5 | c.1823T= (p.Leu608=) c.1379T= (p.Leu460=) | |
8 | g.125057608A>C | CA372191344 | WASHC5 | c.1823T>G (p.Leu608Arg) c.1379T>G (p.Leu460Arg) | |
8 | g.125057608A>G | CA372191345 | WASHC5 | c.1823T>C (p.Leu608Pro) c.1379T>C (p.Leu460Pro) | |
8 | g.125057608A>T | CA4873714 | WASHC5 | c.1823T>A (p.Leu608Gln) c.1379T>A (p.Leu460Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057609G>A | CA462769572 | WASHC5 | c.1822C>T (p.Leu608=) c.1378C>T (p.Leu460=) | |
8 | g.125057609G>C | CA372191346 | WASHC5 | c.1822C>G (p.Leu608Val) c.1378C>G (p.Leu460Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057609G= | CA1817263409 | WASHC5 | c.1822C= (p.Leu608=) c.1378C= (p.Leu460=) | |
8 | g.125057609G>T | CA372191347 | WASHC5 | c.1822C>A (p.Leu608Met) c.1378C>A (p.Leu460Met) | gnomAD v4 |
8 | g.125057610G>A | CA462769575 | WASHC5 | c.1821C>T (p.Asp607=) c.1377C>T (p.Asp459=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057610G>C | CA372191348 | WASHC5 | c.1821C>G (p.Asp607Glu) c.1377C>G (p.Asp459Glu) | |
8 | g.125057610G= | CA1817263412 | WASHC5 | c.1821C= (p.Asp607=) c.1377C= (p.Asp459=) | |
8 | g.125057610G>T | CA372191349 | WASHC5 | c.1821C>A (p.Asp607Glu) c.1377C>A (p.Asp459Glu) | |
8 | g.125057611T>A | CA372191350 | WASHC5 | c.1820A>T (p.Asp607Val) c.1376A>T (p.Asp459Val) | |
8 | g.125057611T>C | CA372191351 | WASHC5 | c.1820A>G (p.Asp607Gly) c.1376A>G (p.Asp459Gly) | |
8 | g.125057611T>G | CA372191352 | WASHC5 | c.1820A>C (p.Asp607Ala) c.1376A>C (p.Asp459Ala) | |
8 | g.125057612C>A | CA372191355 | WASHC5 | c.1819G>T (p.Asp607Tyr) c.1375G>T (p.Asp459Tyr) | gnomAD v4 |
8 | g.125057612C>G | CA372191353 | WASHC5 | c.1819G>C (p.Asp607His) c.1375G>C (p.Asp459His) | |
8 | g.125057612C>T | CA372191354 | WASHC5 | c.1819G>A (p.Asp607Asn) c.1375G>A (p.Asp459Asn) | |
8 | g.125057613G>A | CA4873715 | WASHC5 | c.1818C>T (p.Pro606=) c.1374C>T (p.Pro458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057613G>C | CA462769581 | WASHC5 | c.1818C>G (p.Pro606=) c.1374C>G (p.Pro458=) | |
8 | g.125057613G= | CA1817263417 | WASHC5 | c.1818C= (p.Pro606=) c.1374C= (p.Pro458=) | |
8 | g.125057613G>T | CA462769582 | WASHC5 | c.1818C>A (p.Pro606=) c.1374C>A (p.Pro458=) | dbSNP |
8 | g.125057614G>A | CA372191356 | WASHC5 | c.1817C>T (p.Pro606Leu) c.1373C>T (p.Pro458Leu) | dbSNP gnomAD v2 |
8 | g.125057614G>C | CA372191357 | WASHC5 | c.1817C>G (p.Pro606Arg) c.1373C>G (p.Pro458Arg) | COSMIC |
8 | g.125057614G= | CA1817263421 | WASHC5 | c.1817C= (p.Pro606=) c.1373C= (p.Pro458=) | |
8 | g.125057614G>T | CA372191358 | WASHC5 | c.1817C>A (p.Pro606His) c.1373C>A (p.Pro458His) | |
8 | g.125057615G>A | CA372191359 | WASHC5 | c.1816C>T (p.Pro606Ser) c.1372C>T (p.Pro458Ser) | |
8 | g.125057615G>C | CA372191360 | WASHC5 | c.1816C>G (p.Pro606Ala) c.1372C>G (p.Pro458Ala) | |
8 | g.125057615G>T | CA372191361 | WASHC5 | c.1816C>A (p.Pro606Thr) c.1372C>A (p.Pro458Thr) | |
8 | g.125057615_125057617del | CA2688510124 | WASHC5 | c.1814_1816del (p.Ser605_Pro606delinsThr) c.1370_1372del (p.Ser457_Pro458delinsThr) | gnomAD v4 |
8 | g.125057616G>A | CA462769590 | WASHC5 | c.1815C>T (p.Ser605=) c.1371C>T (p.Ser457=) | gnomAD v4 |
8 | g.125057616G>C | CA372191362 | WASHC5 | c.1815C>G (p.Ser605Arg) c.1371C>G (p.Ser457Arg) | |
8 | g.125057616G>T | CA372191363 | WASHC5 | c.1815C>A (p.Ser605Arg) c.1371C>A (p.Ser457Arg) | gnomAD v4 |
8 | g.125057617C>A | CA372191364 | WASHC5 | c.1814G>T (p.Ser605Ile) c.1370G>T (p.Ser457Ile) | |
8 | g.125057617C>G | CA372191365 | WASHC5 | c.1814G>C (p.Ser605Thr) c.1370G>C (p.Ser457Thr) | |
8 | g.125057617C>T | CA372191366 | WASHC5 | c.1814G>A (p.Ser605Asn) c.1370G>A (p.Ser457Asn) | |
8 | g.125057618T>A | CA372191368 | WASHC5 | c.1813A>T (p.Ser605Cys) c.1369A>T (p.Ser457Cys) | |
8 | g.125057618T>C | CA372191369 | WASHC5 | c.1813A>G (p.Ser605Gly) c.1369A>G (p.Ser457Gly) | |
8 | g.125057618T>G | CA372191367 | WASHC5 | c.1813A>C (p.Ser605Arg) c.1369A>C (p.Ser457Arg) | |
8 | g.125057619A= | CA1817263423 | WASHC5 | c.1812T= (p.Asn604=) c.1368T= (p.Asn456=) | |
8 | g.125057619A>C | CA372191370 | WASHC5 | c.1812T>G (p.Asn604Lys) c.1368T>G (p.Asn456Lys) | |
8 | g.125057619A>G | CA462769596 | WASHC5 | c.1812T>C (p.Asn604=) c.1368T>C (p.Asn456=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057619A>T | CA372191371 | WASHC5 | c.1812T>A (p.Asn604Lys) c.1368T>A (p.Asn456Lys) | |
8 | g.125057620T>A | CA372191372 | WASHC5 | c.1811A>T (p.Asn604Ile) c.1367A>T (p.Asn456Ile) | |
8 | g.125057620T>C | CA372191373 | WASHC5 | c.1811A>G (p.Asn604Ser) c.1367A>G (p.Asn456Ser) | gnomAD v4 |
8 | g.125057620T>G | CA372191374 | WASHC5 | c.1811A>C (p.Asn604Thr) c.1367A>C (p.Asn456Thr) | |
8 | g.125057621T>A | CA372191375 | WASHC5 | c.1810A>T (p.Asn604Tyr) c.1366A>T (p.Asn456Tyr) | |
8 | g.125057621T>C | CA4873716 | WASHC5 | c.1810A>G (p.Asn604Asp) c.1366A>G (p.Asn456Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057621T>G | CA372191376 | WASHC5 | c.1810A>C (p.Asn604His) c.1366A>C (p.Asn456His) | |
8 | g.125057621T= | CA1817263427 | WASHC5 | c.1810A= (p.Asn604=) c.1366A= (p.Asn456=) | |
8 | g.125057622T>A | CA462769606 | WASHC5 | c.1809A>T (p.Ala603=) c.1365A>T (p.Ala455=) | |
8 | g.125057622T>C | CA462769602 | WASHC5 | c.1809A>G (p.Ala603=) c.1365A>G (p.Ala455=) | gnomAD v4 |
8 | g.125057622T>G | CA462769604 | WASHC5 | c.1809A>C (p.Ala603=) c.1365A>C (p.Ala455=) | |
8 | g.125057623G>A | CA372191377 | WASHC5 | c.1808C>T (p.Ala603Val) c.1364C>T (p.Ala455Val) | gnomAD v4 |
8 | g.125057623G>C | CA372191378 | WASHC5 | c.1808C>G (p.Ala603Gly) c.1364C>G (p.Ala455Gly) | |
8 | g.125057623G= | CA1817263431 | WASHC5 | c.1808C= (p.Ala603=) c.1364C= (p.Ala455=) | |
8 | g.125057623G>T | CA372191379 | WASHC5 | c.1808C>A (p.Ala603Glu) c.1364C>A (p.Ala455Glu) | dbSNP |
8 | g.125057624C>A | CA372191380 | WASHC5 | c.1807G>T (p.Ala603Ser) c.1363G>T (p.Ala455Ser) | |
8 | g.125057624C= | CA1817263433 | WASHC5 | c.1807G= (p.Ala603=) c.1363G= (p.Ala455=) | |
8 | g.125057624C>G | CA372191381 | WASHC5 | c.1807G>C (p.Ala603Pro) c.1363G>C (p.Ala455Pro) | |
8 | g.125057624C>T | CA372191382 | WASHC5 | c.1807G>A (p.Ala603Thr) c.1363G>A (p.Ala455Thr) | dbSNP gnomAD v4 |
8 | g.125057625C>A | CA372191383 | WASHC5 | c.1806G>T (p.Gln602His) c.1362G>T (p.Gln454His) | |
8 | g.125057625C>G | CA372191384 | WASHC5 | c.1806G>C (p.Gln602His) c.1362G>C (p.Gln454His) | |
8 | g.125057625C>T | CA462769612 | WASHC5 | c.1806G>A (p.Gln602=) c.1362G>A (p.Gln454=) | |
8 | g.125057626T>A | CA372191385 | WASHC5 | c.1805A>T (p.Gln602Leu) c.1361A>T (p.Gln454Leu) | |
8 | g.125057626T>C | CA372191386 | WASHC5 | c.1805A>G (p.Gln602Arg) c.1361A>G (p.Gln454Arg) | COSMIC |
8 | g.125057626T>G | CA372191387 | WASHC5 | c.1805A>C (p.Gln602Pro) c.1361A>C (p.Gln454Pro) | |
8 | g.125057627G>A | CA372191388 | WASHC5 | c.1804C>T (p.Gln602Ter) c.1360C>T (p.Gln454Ter) | |
8 | g.125057627G>C | CA372191389 | WASHC5 | c.1804C>G (p.Gln602Glu) c.1360C>G (p.Gln454Glu) | |
8 | g.125057627G>T | CA372191390 | WASHC5 | c.1804C>A (p.Gln602Lys) c.1360C>A (p.Gln454Lys) | |
8 | g.125057628A>C | CA372191391 | WASHC5 | c.1803T>G (p.Asn601Lys) c.1359T>G (p.Asn453Lys) | |
8 | g.125057628A>G | CA462769616 | WASHC5 | c.1803T>C (p.Asn601=) c.1359T>C (p.Asn453=) | |
8 | g.125057628A>T | CA372191392 | WASHC5 | c.1803T>A (p.Asn601Lys) c.1359T>A (p.Asn453Lys) | |
8 | g.125057629T>A | CA372191393 | WASHC5 | c.1802A>T (p.Asn601Ile) c.1358A>T (p.Asn453Ile) | gnomAD v4 |
8 | g.125057629T>C | CA372191394 | WASHC5 | c.1802A>G (p.Asn601Ser) c.1358A>G (p.Asn453Ser) | dbSNP gnomAD v2 |
8 | g.125057629T>G | CA372191395 | WASHC5 | c.1802A>C (p.Asn601Thr) c.1358A>C (p.Asn453Thr) | gnomAD v4 |
8 | g.125057629T= | CA1817263435 | WASHC5 | c.1802A= (p.Asn601=) c.1358A= (p.Asn453=) | |
8 | g.125057630T>A | CA372191396 | WASHC5 | c.1801A>T (p.Asn601Tyr) c.1357A>T (p.Asn453Tyr) | |
8 | g.125057630T>C | CA372191397 | WASHC5 | c.1801A>G (p.Asn601Asp) c.1357A>G (p.Asn453Asp) | |
8 | g.125057630T>G | CA372191398 | WASHC5 | c.1801A>C (p.Asn601His) c.1357A>C (p.Asn453His) | |
8 | g.125057631A>C | CA372191399 | WASHC5 | c.1800T>G (p.Ile600Met) c.1356T>G (p.Ile452Met) | |
8 | g.125057631A>G | CA462769620 | WASHC5 | c.1800T>C (p.Ile600=) c.1356T>C (p.Ile452=) | |
8 | g.125057631A>T | CA462769622 | WASHC5 | c.1800T>A (p.Ile600=) c.1356T>A (p.Ile452=) | |
8 | g.125057632A>C | CA372191401 | WASHC5 | c.1799T>G (p.Ile600Ser) c.1355T>G (p.Ile452Ser) | |
8 | g.125057632A>G | CA372191400 | WASHC5 | c.1799T>C (p.Ile600Thr) c.1355T>C (p.Ile452Thr) | |
8 | g.125057632A>T | CA372191402 | WASHC5 | c.1799T>A (p.Ile600Asn) c.1355T>A (p.Ile452Asn) | |
8 | g.125057633T>A | CA372191403 | WASHC5 | c.1798A>T (p.Ile600Phe) c.1354A>T (p.Ile452Phe) | gnomAD v4 |
8 | g.125057633T>C | CA372191405 | WASHC5 | c.1798A>G (p.Ile600Val) c.1354A>G (p.Ile452Val) | gnomAD v4 |
8 | g.125057633T>G | CA372191404 | WASHC5 | c.1798A>C (p.Ile600Leu) c.1354A>C (p.Ile452Leu) | |
8 | g.125057634A>C | CA462769627 | WASHC5 | c.1797T>G (p.Arg599=) c.1353T>G (p.Arg451=) | |
8 | g.125057634A>G | CA462769628 | WASHC5 | c.1797T>C (p.Arg599=) c.1353T>C (p.Arg451=) | |
8 | g.125057634A>T | CA462769630 | WASHC5 | c.1797T>A (p.Arg599=) c.1353T>A (p.Arg451=) | |
8 | g.125057635C>A | CA372191406 | WASHC5 | c.1796G>T (p.Arg599Leu) c.1352G>T (p.Arg451Leu) | |
8 | g.125057635C= | CA1817263437 | WASHC5 | c.1796G= (p.Arg599=) c.1352G= (p.Arg451=) | |
8 | g.125057635C>G | CA372191407 | WASHC5 | c.1796G>C (p.Arg599Pro) c.1352G>C (p.Arg451Pro) | |
8 | g.125057635C>T | CA4873717 | WASHC5 | c.1796G>A (p.Arg599His) c.1352G>A (p.Arg451His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125057636G>A | CA4873718 | WASHC5 | c.1795C>T (p.Arg599Cys) c.1351C>T (p.Arg451Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057636G>C | CA372191408 | WASHC5 | c.1795C>G (p.Arg599Gly) c.1351C>G (p.Arg451Gly) | |
8 | g.125057636G= | CA1817263439 | WASHC5 | c.1795C= (p.Arg599=) c.1351C= (p.Arg451=) | |
8 | g.125057636G>T | CA372191409 | WASHC5 | c.1795C>A (p.Arg599Ser) c.1351C>A (p.Arg451Ser) | |
8 | g.125057640_125057642del | CA2688510125 | WASHC5 | c.1793_1795del (p.Leu598del) c.1349_1351del (p.Leu450del) | gnomAD v4 |
8 | g.125057637A>C | CA462769635 | WASHC5 | c.1794T>G (p.Leu598=) c.1350T>G (p.Leu450=) | |
8 | g.125057637A>G | CA462769636 | WASHC5 | c.1794T>C (p.Leu598=) c.1350T>C (p.Leu450=) | |
8 | g.125057637A>T | CA462769637 | WASHC5 | c.1794T>A (p.Leu598=) c.1350T>A (p.Leu450=) | |
8 | g.125057638A>C | CA372191410 | WASHC5 | c.1793T>G (p.Leu598Arg) c.1349T>G (p.Leu450Arg) | |
8 | g.125057638A>G | CA372191411 | WASHC5 | c.1793T>C (p.Leu598Pro) c.1349T>C (p.Leu450Pro) | |
8 | g.125057638A>T | CA372191412 | WASHC5 | c.1793T>A (p.Leu598His) c.1349T>A (p.Leu450His) | |
8 | g.125057639G>A | CA372191413 | WASHC5 | c.1792C>T (p.Leu598Phe) c.1348C>T (p.Leu450Phe) | |
8 | g.125057639G>C | CA372191414 | WASHC5 | c.1792C>G (p.Leu598Val) c.1348C>G (p.Leu450Val) | |
8 | g.125057639G>T | CA372191415 | WASHC5 | c.1792C>A (p.Leu598Ile) c.1348C>A (p.Leu450Ile) | |
8 | g.125057640A>C | CA462769642 | WASHC5 | c.1791T>G (p.Leu597=) c.1347T>G (p.Leu449=) | |
8 | g.125057640A>G | CA462769643 | WASHC5 | c.1791T>C (p.Leu597=) c.1347T>C (p.Leu449=) | |
8 | g.125057640A>T | CA462769644 | WASHC5 | c.1791T>A (p.Leu597=) c.1347T>A (p.Leu449=) | |
8 | g.125057641A>C | CA372191416 | WASHC5 | c.1790T>G (p.Leu597Arg) c.1346T>G (p.Leu449Arg) | |
8 | g.125057641A>G | CA372191417 | WASHC5 | c.1790T>C (p.Leu597Pro) c.1346T>C (p.Leu449Pro) | |
8 | g.125057641A>T | CA372191418 | WASHC5 | c.1790T>A (p.Leu597His) c.1346T>A (p.Leu449His) | |
8 | g.125057643_125057648dup | CA2688510126 | WASHC5 | c.1785_1790dup (p.Leu597_Leu598insProLeu) c.1341_1346dup (p.Leu449_Leu450insProLeu) | gnomAD v4 |
8 | g.125057642G>A | CA372191419 | WASHC5 | c.1789C>T (p.Leu597Phe) c.1345C>T (p.Leu449Phe) | |
8 | g.125057642G>C | CA372191421 | WASHC5 | c.1789C>G (p.Leu597Val) c.1345C>G (p.Leu449Val) | |
8 | g.125057642G>T | CA372191420 | WASHC5 | c.1789C>A (p.Leu597Ile) c.1345C>A (p.Leu449Ile) | |
8 | g.125057645del | CA2688510127 | WASHC5 | c.1789del (p.Leu597PhefsTer27) c.1345del (p.Leu449PhefsTer27) | gnomAD v4 |
8 | g.125057643G>A | CA462769650 | WASHC5 | c.1788C>T (p.Pro596=) c.1344C>T (p.Pro448=) | |
8 | g.125057643G>C | CA4873719 | WASHC5 | c.1788C>G (p.Pro596=) c.1344C>G (p.Pro448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125057643G= | CA1817263440 | WASHC5 | c.1788C= (p.Pro596=) c.1344C= (p.Pro448=) | |
8 | g.125057643G>T | CA462769652 | WASHC5 | c.1788C>A (p.Pro596=) c.1344C>A (p.Pro448=) | |
8 | g.125057644G>A | CA372191422 | WASHC5 | c.1787C>T (p.Pro596Leu) c.1343C>T (p.Pro448Leu) | gnomAD v4 |
8 | g.125057644G>C | CA372191423 | WASHC5 | c.1787C>G (p.Pro596Arg) c.1343C>G (p.Pro448Arg) | |
8 | g.125057644G>T | CA372191424 | WASHC5 | c.1787C>A (p.Pro596His) c.1343C>A (p.Pro448His) | |
8 | g.125057645G>A | CA372191425 | WASHC5 | c.1786C>T (p.Pro596Ser) c.1342C>T (p.Pro448Ser) | |
8 | g.125057645G>C | CA372191426 | WASHC5 | c.1786C>G (p.Pro596Ala) c.1342C>G (p.Pro448Ala) | |
8 | g.125057645G>T | CA372191427 | WASHC5 | c.1786C>A (p.Pro596Thr) c.1342C>A (p.Pro448Thr) | |
8 | g.125057646C>A | CA185306013 | WASHC5 | c.1785G>T (p.Leu595=) c.1341G>T (p.Leu447=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057646C= | CA1817263443 | WASHC5 | c.1785G= (p.Leu595=) c.1341G= (p.Leu447=) | |
8 | g.125057646C>G | CA462769657 | WASHC5 | c.1785G>C (p.Leu595=) c.1341G>C (p.Leu447=) | gnomAD v4 |
8 | g.125057646C>T | CA462769658 | WASHC5 | c.1785G>A (p.Leu595=) c.1341G>A (p.Leu447=) | |
8 | g.125057647A>C | CA372191428 | WASHC5 | c.1784T>G (p.Leu595Arg) c.1340T>G (p.Leu447Arg) | |
8 | g.125057647A>G | CA372191429 | WASHC5 | c.1784T>C (p.Leu595Pro) c.1340T>C (p.Leu447Pro) | |
8 | g.125057647A>T | CA372191430 | WASHC5 | c.1784T>A (p.Leu595Gln) c.1340T>A (p.Leu447Gln) | |
8 | g.125057648G>A | CA462769662 | WASHC5 | c.1783C>T (p.Leu595=) c.1339C>T (p.Leu447=) | gnomAD v4 |
8 | g.125057648G>C | CA372191432 | WASHC5 | c.1783C>G (p.Leu595Val) c.1339C>G (p.Leu447Val) | |
8 | g.125057648G>T | CA372191431 | WASHC5 | c.1783C>A (p.Leu595Met) c.1339C>A (p.Leu447Met) | |
8 | g.125057650_125057653del | CA2688510128 | WASHC5 | c.1780_1783del (p.Asp594CysfsTer29) c.1336_1339del (p.Asp446CysfsTer29) | gnomAD v4 |
8 | g.125057649A>C | CA372191433 | WASHC5 | c.1782T>G (p.Asp594Glu) c.1338T>G (p.Asp446Glu) | |
8 | g.125057649A>G | CA462769665 | WASHC5 | c.1782T>C (p.Asp594=) c.1338T>C (p.Asp446=) | |
8 | g.125057649A>T | CA372191434 | WASHC5 | c.1782T>A (p.Asp594Glu) c.1338T>A (p.Asp446Glu) | |
8 | g.125057650T>A | CA372191435 | WASHC5 | c.1781A>T (p.Asp594Val) c.1337A>T (p.Asp446Val) | gnomAD v4 |
8 | g.125057650T>C | CA372191436 | WASHC5 | c.1781A>G (p.Asp594Gly) c.1337A>G (p.Asp446Gly) | |
8 | g.125057650T>G | CA372191437 | WASHC5 | c.1781A>C (p.Asp594Ala) c.1337A>C (p.Asp446Ala) | |
8 | g.125057651C>A | CA372191438 | WASHC5 | c.1780G>T (p.Asp594Tyr) c.1336G>T (p.Asp446Tyr) | gnomAD v4 |
8 | g.125057651C= | CA1817263445 | WASHC5 | c.1780G= (p.Asp594=) c.1336G= (p.Asp446=) | |
8 | g.125057651C>G | CA372191439 | WASHC5 | c.1780G>C (p.Asp594His) c.1336G>C (p.Asp446His) | |
8 | g.125057651C>T | CA4873720 | WASHC5 | c.1780G>A (p.Asp594Asn) c.1336G>A (p.Asp446Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057652G>A | CA4873721 | WASHC5 | c.1779C>T (p.Leu593=) c.1335C>T (p.Leu445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057652G>C | CA4873722 | WASHC5 | c.1779C>G (p.Leu593=) c.1335C>G (p.Leu445=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.125057652G= | CA1817263449 | WASHC5 | c.1779C= (p.Leu593=) c.1335C= (p.Leu445=) | |
8 | g.125057652G>T | CA462769672 | WASHC5 | c.1779C>A (p.Leu593=) c.1335C>A (p.Leu445=) | |
8 | g.125057653A>C | CA372191440 | WASHC5 | c.1778T>G (p.Leu593Arg) c.1334T>G (p.Leu445Arg) | |
8 | g.125057653A>G | CA372191441 | WASHC5 | c.1778T>C (p.Leu593Pro) c.1334T>C (p.Leu445Pro) | |
8 | g.125057653A>T | CA372191442 | WASHC5 | c.1778T>A (p.Leu593His) c.1334T>A (p.Leu445His) | |
8 | g.125057654G>A | CA372191445 | WASHC5 | c.1777C>T (p.Leu593Phe) c.1333C>T (p.Leu445Phe) | |
8 | g.125057654G>C | CA372191443 | WASHC5 | c.1777C>G (p.Leu593Val) c.1333C>G (p.Leu445Val) | |
8 | g.125057654G>T | CA372191444 | WASHC5 | c.1777C>A (p.Leu593Ile) c.1333C>A (p.Leu445Ile) | |
8 | g.125057655G>A | CA462769677 | WASHC5 | c.1776C>T (p.Ala592=) c.1332C>T (p.Ala444=) | gnomAD v4 |
8 | g.125057655G>C | CA462769678 | WASHC5 | c.1776C>G (p.Ala592=) c.1332C>G (p.Ala444=) | dbSNP |
8 | g.125057655G= | CA1817263451 | WASHC5 | c.1776C= (p.Ala592=) c.1332C= (p.Ala444=) | |
8 | g.125057655G>T | CA462769680 | WASHC5 | c.1776C>A (p.Ala592=) c.1332C>A (p.Ala444=) | |
8 | g.125057656G>A | CA372191446 | WASHC5 | c.1775C>T (p.Ala592Val) c.1331C>T (p.Ala444Val) | |
8 | g.125057656G>C | CA372191447 | WASHC5 | c.1775C>G (p.Ala592Gly) c.1331C>G (p.Ala444Gly) | |
8 | g.125057656G>T | CA372191448 | WASHC5 | c.1775C>A (p.Ala592Asp) c.1331C>A (p.Ala444Asp) | gnomAD v4 |
8 | g.125057657C>A | CA372191449 | WASHC5 | c.1774G>T (p.Ala592Ser) c.1330G>T (p.Ala444Ser) | |
8 | g.125057657C>G | CA372191450 | WASHC5 | c.1774G>C (p.Ala592Pro) c.1330G>C (p.Ala444Pro) | |
8 | g.125057657C>T | CA372191451 | WASHC5 | c.1774G>A (p.Ala592Thr) c.1330G>A (p.Ala444Thr) | |
8 | g.125057658A= | CA1817263454 | WASHC5 | c.1773T= (p.Ser591=) c.1329T= (p.Ser443=) | |
8 | g.125057658A>C | CA462769685 | WASHC5 | c.1773T>G (p.Ser591=) c.1329T>G (p.Ser443=) | |
8 | g.125057658A>G | CA462769686 | WASHC5 | c.1773T>C (p.Ser591=) c.1329T>C (p.Ser443=) | dbSNP |
8 | g.125057658A>T | CA462769687 | WASHC5 | c.1773T>A (p.Ser591=) c.1329T>A (p.Ser443=) | |
8 | g.125057659G>A | CA372191452 | WASHC5 | c.1772C>T (p.Ser591Phe) c.1328C>T (p.Ser443Phe) | ClinVar dbSNP |
8 | g.125057659G>C | CA372191453 | WASHC5 | c.1772C>G (p.Ser591Cys) c.1328C>G (p.Ser443Cys) | |
8 | g.125057659G= | CA1817263456 | WASHC5 | c.1772C= (p.Ser591=) c.1328C= (p.Ser443=) | |
8 | g.125057659G>T | CA372191454 | WASHC5 | c.1772C>A (p.Ser591Tyr) c.1328C>A (p.Ser443Tyr) | |
8 | g.125057660A= | CA1817263459 | WASHC5 | c.1771T= (p.Ser591=) c.1327T= (p.Ser443=) | |
8 | g.125057660A>C | CA372191455 | WASHC5 | c.1771T>G (p.Ser591Ala) c.1327T>G (p.Ser443Ala) | |
8 | g.125057660A>G | CA372191456 | WASHC5 | c.1771T>C (p.Ser591Pro) c.1327T>C (p.Ser443Pro) | ClinVar dbSNP |
8 | g.125057660A>T | CA372191457 | WASHC5 | c.1771T>A (p.Ser591Thr) c.1327T>A (p.Ser443Thr) | |
8 | g.125057661G>A | CA462769692 | WASHC5 | c.1770C>T (p.Ala590=) c.1326C>T (p.Ala442=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057661G>C | CA462769696 | WASHC5 | c.1770C>G (p.Ala590=) c.1326C>G (p.Ala442=) | |
8 | g.125057661G= | CA1817263463 | WASHC5 | c.1770C= (p.Ala590=) c.1326C= (p.Ala442=) | |
8 | g.125057661G>T | CA462769694 | WASHC5 | c.1770C>A (p.Ala590=) c.1326C>A (p.Ala442=) | gnomAD v4 |
8 | g.125057662G>A | CA372191460 | WASHC5 | c.1769C>T (p.Ala590Val) c.1325C>T (p.Ala442Val) | gnomAD v4 |
8 | g.125057662G>C | CA372191459 | WASHC5 | c.1769C>G (p.Ala590Gly) c.1325C>G (p.Ala442Gly) | |
8 | g.125057662G>T | CA372191458 | WASHC5 | c.1769C>A (p.Ala590Asp) c.1325C>A (p.Ala442Asp) | |
8 | g.125057663C>A | CA372191461 | WASHC5 | c.1768G>T (p.Ala590Ser) c.1324G>T (p.Ala442Ser) | |
8 | g.125057663C= | CA1817263465 | WASHC5 | c.1768G= (p.Ala590=) c.1324G= (p.Ala442=) | |
8 | g.125057663C>G | CA372191463 | WASHC5 | c.1768G>C (p.Ala590Pro) c.1324G>C (p.Ala442Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057663C>T | CA372191462 | WASHC5 | c.1768G>A (p.Ala590Thr) c.1324G>A (p.Ala442Thr) | |
8 | g.125057664A>C | CA462769700 | WASHC5 | c.1767T>G (p.Leu589=) c.1323T>G (p.Leu441=) | |
8 | g.125057664A>G | CA462769702 | WASHC5 | c.1767T>C (p.Leu589=) c.1323T>C (p.Leu441=) | |
8 | g.125057664A>T | CA462769703 | WASHC5 | c.1767T>A (p.Leu589=) c.1323T>A (p.Leu441=) | |
8 | g.125057665A>C | CA372191464 | WASHC5 | c.1766T>G (p.Leu589Arg) c.1322T>G (p.Leu441Arg) | |
8 | g.125057665A>G | CA372191465 | WASHC5 | c.1766T>C (p.Leu589Pro) c.1322T>C (p.Leu441Pro) | |
8 | g.125057665A>T | CA372191466 | WASHC5 | c.1766T>A (p.Leu589His) c.1322T>A (p.Leu441His) | |
8 | g.125057666G>A | CA372191467 | WASHC5 | c.1765C>T (p.Leu589Phe) c.1321C>T (p.Leu441Phe) | gnomAD v4 |
8 | g.125057666G>C | CA372191468 | WASHC5 | c.1765C>G (p.Leu589Val) c.1321C>G (p.Leu441Val) | |
8 | g.125057666G>T | CA372191469 | WASHC5 | c.1765C>A (p.Leu589Ile) c.1321C>A (p.Leu441Ile) | gnomAD v4 |
8 | g.125057667C>A | CA372191470 | WASHC5 | c.1765-1G>T (n.1765-1G>T) c.1321-1G>T (n.1321-1G>T) | |
8 | g.125057667C>G | CA372191471 | WASHC5 | c.1765-1G>C (n.1765-1G>C) c.1321-1G>C (n.1321-1G>C) | |
8 | g.125057667C>T | CA372191472 | WASHC5 | c.1765-1G>A (n.1765-1G>A) c.1321-1G>A (n.1321-1G>A) | |
8 | g.125057668T>A | CA372191473 | WASHC5 | c.1765-2A>T (n.1765-2A>T) c.1321-2A>T (n.1321-2A>T) | |
8 | g.125057668T>C | CA372191474 | WASHC5 | c.1765-2A>G (n.1765-2A>G) c.1321-2A>G (n.1321-2A>G) | dbSNP |
8 | g.125057668T>G | CA372191475 | WASHC5 | c.1765-2A>C (n.1765-2A>C) c.1321-2A>C (n.1321-2A>C) | |
8 | g.125057668T= | CA1817263472 | WASHC5 | c.1765-2A= (n.1765-2A=) c.1321-2A= (n.1321-2A=) | |
8 | g.125057669G>A | CA2688510129 | WASHC5 | c.1765-3C>T (n.1765-3C>T) c.1321-3C>T (n.1321-3C>T) | gnomAD v4 |
8 | g.125057669G>T | CA2688510130 | WASHC5 | c.1765-3C>A (n.1765-3C>A) c.1321-3C>A (n.1321-3C>A) | gnomAD v4 |
8 | g.125057670dup | CA2580078577 | WASHC5 | c.1765-3dup (n.1765-3dup) c.1321-3dup (n.1321-3dup) | ClinVar |
8 | g.125057670G>A | CA1118829652 | WASHC5 | c.1765-4C>T (n.1765-4C>T) c.1321-4C>T (n.1321-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057670G= | CA1817263474 | WASHC5 | c.1765-4C= (n.1765-4C=) c.1321-4C= (n.1321-4C=) | |
8 | g.125057670G>T | CA2688510131 | WASHC5 | c.1765-4C>A (n.1765-4C>A) c.1321-4C>A (n.1321-4C>A) | gnomAD v4 |
8 | g.125057673G>A | CA4873723 | WASHC5 | c.1765-7C>T (n.1765-7C>T) c.1321-7C>T (n.1321-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125057673G= | CA1817263476 | WASHC5 | c.1765-7C= (n.1765-7C=) c.1321-7C= (n.1321-7C=) | |
8 | g.125057673G>T | CA2688510132 | WASHC5 | c.1765-7C>A (n.1765-7C>A) c.1321-7C>A (n.1321-7C>A) | gnomAD v4 |
8 | g.125057676A>G | CA2688510133 | WASHC5 | c.1765-10T>C (n.1765-10T>C) c.1321-10T>C (n.1321-10T>C) | gnomAD v4 |
8 | g.125057677A= | CA1817263478 | WASHC5 | c.1765-11T= (n.1765-11T=) c.1321-11T= (n.1321-11T=) | |
8 | g.125057677A>G | CA4873724 | WASHC5 | c.1765-11T>C (n.1765-11T>C) c.1321-11T>C (n.1321-11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057679T>A | CA2579247176 | WASHC5 | c.1765-13A>T (n.1765-13A>T) c.1321-13A>T (n.1321-13A>T) | |
8 | g.125057679T>G | CA584877145 | WASHC5 | c.1765-13A>C (n.1765-13A>C) c.1321-13A>C (n.1321-13A>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057679T= | CA1817263480 | WASHC5 | c.1765-13A= (n.1765-13A=) c.1321-13A= (n.1321-13A=) | |
8 | g.125057680A>G | CA2688510135 | WASHC5 | c.1765-14T>C (n.1765-14T>C) c.1321-14T>C (n.1321-14T>C) | gnomAD v4 |
8 | g.125057680A>T | CA2688510136 | WASHC5 | c.1765-14T>A (n.1765-14T>A) c.1321-14T>A (n.1321-14T>A) | gnomAD v4 |
8 | g.125057681del | CA2579247177 | WASHC5 | c.1765-14del (n.1765-14del) c.1321-14del (n.1321-14del) | |
8 | g.125057681A= | CA1817263482 | WASHC5 | c.1765-15T= (n.1765-15T=) c.1321-15T= (n.1321-15T=) | |
8 | g.125057681A>G | CA2688510137 | WASHC5 | c.1765-15T>C (n.1765-15T>C) c.1321-15T>C (n.1321-15T>C) | gnomAD v4 |
8 | g.125057682G>A | CA2782073557 | WASHC5 | c.1765-16C>T (n.1765-16C>T) c.1321-16C>T (n.1321-16C>T) | |
8 | g.125057682G= | CA1817263484 | WASHC5 | c.1765-16C= (n.1765-16C=) c.1321-16C= (n.1321-16C=) | |
8 | g.125057682G>T | CA2688510138 | WASHC5 | c.1765-16C>A (n.1765-16C>A) c.1321-16C>A (n.1321-16C>A) | gnomAD v4 |
8 | g.125057682_125057683insAAATGCATCAGG | CA4873725 | WASHC5 | c.1765-16_1765-15insCTGATGCATTTC (n.1765-16_1765-15insCTGATGCATTTC) c.1321-16_1321-15insCTGATGCATTTC (n.1321-16_1321-15insCTGATGCATTTC) | dbSNP ExAC |
8 | g.125057682_125057683insAAAT | CA1817263487 | WASHC5 | c.1765-17_1765-16insATTT (n.1765-17_1765-16insATTT) c.1321-17_1321-16insATTT (n.1321-17_1321-16insATTT) | dbSNP |
8 | g.125057683G>A | CA846905370 | WASHC5 | c.1765-17C>T (n.1765-17C>T) c.1321-17C>T (n.1321-17C>T) | dbSNP gnomAD v4 |
8 | g.125057683G= | CA1817263489 | WASHC5 | c.1765-17C= (n.1765-17C=) c.1321-17C= (n.1321-17C=) | |
8 | g.125057683G>T | CA2688510139 | WASHC5 | c.1765-17C>A (n.1765-17C>A) c.1321-17C>A (n.1321-17C>A) | gnomAD v4 |
8 | g.125057683_125057685delinsGTA | CA1817263490 | WASHC5 | c.1765-19_1765-17delinsTAC (n.1765-19_1765-17delinsTAC) c.1321-19_1321-17delinsTAC (n.1321-19_1321-17delinsTAC) | |
8 | g.125057684T>C | CA1817263493 | WASHC5 | c.1765-18A>G (n.1765-18A>G) c.1321-18A>G (n.1321-18A>G) | dbSNP gnomAD v4 |
8 | g.125057684T= | CA1817263492 | WASHC5 | c.1765-18A= (n.1765-18A=) c.1321-18A= (n.1321-18A=) | |
8 | g.125057687_125057688del | CA4873726 | WASHC5 | c.1765-19_1765-18del (n.1765-19_1765-18del) c.1321-19_1321-18del (n.1321-19_1321-18del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057685A= | CA1817263495 | WASHC5 | c.1765-19T= (n.1765-19T=) c.1321-19T= (n.1321-19T=) | |
8 | g.125057685A>G | CA584877148 | WASHC5 | c.1765-19T>C (n.1765-19T>C) c.1321-19T>C (n.1321-19T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057685A>T | CA4873727 | WASHC5 | c.1765-19T>A (n.1765-19T>A) c.1321-19T>A (n.1321-19T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057686T>A | CA2579247178 | WASHC5 | c.1765-20A>T (n.1765-20A>T) c.1321-20A>T (n.1321-20A>T) | |
8 | g.125057686T>C | CA4873728 | WASHC5 | c.1765-20A>G (n.1765-20A>G) c.1321-20A>G (n.1321-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057686T= | CA1817263497 | WASHC5 | c.1765-20A= (n.1765-20A=) c.1321-20A= (n.1321-20A=) | |
8 | g.125057686_125057687insCAGGGTG | CA1817263499 | WASHC5 | c.1765-21_1765-20insCACCCTG (n.1765-21_1765-20insCACCCTG) c.1321-21_1321-20insCACCCTG (n.1321-21_1321-20insCACCCTG) | dbSNP |
8 | g.125057687A>G | CA2688510140 | WASHC5 | c.1765-21T>C (n.1765-21T>C) c.1321-21T>C (n.1321-21T>C) | gnomAD v4 |
8 | g.125057688T>C | CA185306061 | WASHC5 | c.1765-22A>G (n.1765-22A>G) c.1321-22A>G (n.1321-22A>G) | dbSNP gnomAD v4 |
8 | g.125057688T= | CA1817263500 | WASHC5 | c.1765-22A= (n.1765-22A=) c.1321-22A= (n.1321-22A=) | |
8 | g.125057689C>A | CA2688510141 | WASHC5 | c.1765-23G>T (n.1765-23G>T) c.1321-23G>T (n.1321-23G>T) | gnomAD v4 |
8 | g.125057689C= | CA1817263503 | WASHC5 | c.1765-23G= (n.1765-23G=) c.1321-23G= (n.1321-23G=) | |
8 | g.125057689C>T | CA584877153 | WASHC5 | c.1765-23G>A (n.1765-23G>A) c.1321-23G>A (n.1321-23G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057690T>A | CA2579247179 | WASHC5 | c.1765-24A>T (n.1765-24A>T) c.1321-24A>T (n.1321-24A>T) | gnomAD v4 |
8 | g.125057690T>C | CA2688510142 | WASHC5 | c.1765-24A>G (n.1765-24A>G) c.1321-24A>G (n.1321-24A>G) | gnomAD v4 |
8 | g.125057691G>T | CA2579247180 | WASHC5 | c.1765-25C>A (n.1765-25C>A) c.1321-25C>A (n.1321-25C>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057692T>C | CA2688510143 | WASHC5 | c.1765-26A>G (n.1765-26A>G) c.1321-26A>G (n.1321-26A>G) | gnomAD v4 |
8 | g.125057694T>C | CA2688510144 | WASHC5 | c.1765-28A>G (n.1765-28A>G) c.1321-28A>G (n.1321-28A>G) | gnomAD v4 |
8 | g.125057695C>A | CA2688510145 | WASHC5 | c.1765-29G>T (n.1765-29G>T) c.1321-29G>T (n.1321-29G>T) | gnomAD v4 |
8 | g.125057698G>A | CA584877154 | WASHC5 | c.1765-32C>T (n.1765-32C>T) c.1321-32C>T (n.1321-32C>T) | dbSNP gnomAD v2 |
8 | g.125057698G= | CA1817263505 | WASHC5 | c.1765-32C= (n.1765-32C=) c.1321-32C= (n.1321-32C=) | |
8 | g.125057698G>T | CA584877155 | WASHC5 | c.1765-32C>A (n.1765-32C>A) c.1321-32C>A (n.1321-32C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057699T>A | CA2688510146 | WASHC5 | c.1765-33A>T (n.1765-33A>T) c.1321-33A>T (n.1321-33A>T) | gnomAD v4 |
8 | g.125057703A= | CA1817263507 | WASHC5 | c.1765-37T= (n.1765-37T=) c.1321-37T= (n.1321-37T=) | |
8 | g.125057703A>T | CA1118829659 | WASHC5 | c.1765-37T>A (n.1765-37T>A) c.1321-37T>A (n.1321-37T>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125057706_125057707del | CA2579247181 | WASHC5 | c.1765-38_1765-37del (n.1765-38_1765-37del) c.1321-38_1321-37del (n.1321-38_1321-37del) | gnomAD v4 |
8 | g.125057704_125057707del | CA2688510147 | WASHC5 | c.1765-40_1765-37del (n.1765-40_1765-37del) c.1321-40_1321-37del (n.1321-40_1321-37del) | gnomAD v4 |
8 | g.125057704A>G | CA2688510148 | WASHC5 | c.1765-38T>C (n.1765-38T>C) c.1321-38T>C (n.1321-38T>C) | gnomAD v4 |
8 | g.125057704A>T | CA2579247182 | WASHC5 | c.1765-38T>A (n.1765-38T>A) c.1321-38T>A (n.1321-38T>A) | gnomAD v4 |
8 | g.125057705A= | CA1817263510 | WASHC5 | c.1765-39T= (n.1765-39T=) c.1321-39T= (n.1321-39T=) | |
8 | g.125057705A>C | CA2688510149 | WASHC5 | c.1765-39T>G (n.1765-39T>G) c.1321-39T>G (n.1321-39T>G) | gnomAD v4 |
8 | g.125057705A>G | CA4873729 | WASHC5 | c.1765-39T>C (n.1765-39T>C) c.1321-39T>C (n.1321-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125057706A>G | CA2688510150 | WASHC5 | c.1765-40T>C (n.1765-40T>C) c.1321-40T>C (n.1321-40T>C) | gnomAD v4 |
8 | g.125057707A= | CA1817263515 | WASHC5 | c.1765-41T= (n.1765-41T=) c.1321-41T= (n.1321-41T=) | |
8 | g.125057707A>G | CA4873730 | WASHC5 | c.1765-41T>C (n.1765-41T>C) c.1321-41T>C (n.1321-41T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125057707A>T | CA1817263513 | WASHC5 | c.1765-41T>A (n.1765-41T>A) c.1321-41T>A (n.1321-41T>A) | dbSNP |
8 | g.125057708G>C | CA584877162 | WASHC5 | c.1765-42C>G (n.1765-42C>G) c.1321-42C>G (n.1321-42C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125057708G= | CA1817263518 | WASHC5 | c.1765-42C= (n.1765-42C=) c.1321-42C= (n.1321-42C=) | |
8 | g.125057708G>T | CA2579247183 | WASHC5 | c.1765-42C>A (n.1765-42C>A) c.1321-42C>A (n.1321-42C>A) |