Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.113588292_113588303delinsAGGCCAGGGGTC | CA1937429178 | HABP2 | c.1606_1617delinsAGGCCAGGGGTC (p.Arg536=) c.1528_1539delinsAGGCCAGGGGTC (p.Arg510=) | |
10 | g.113588293_113588303del | CA660072758 | HABP2 | c.1607_1617del (p.Arg536IlefsTer18) c.1529_1539del (p.Arg510IlefsTer18) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113588294G>A | CA471516925 | HABP2 | c.1608G>A (p.Arg536=) c.1530G>A (p.Arg510=) | |
10 | g.113588294G>C | CA378422230 | HABP2 | c.1608G>C (p.Arg536Ser) c.1530G>C (p.Arg510Ser) | |
10 | g.113588294G>T | CA378422233 | HABP2 | c.1608G>T (p.Arg536Ser) c.1530G>T (p.Arg510Ser) | |
10 | g.113588295C>A | CA378422240 | HABP2 | c.1609C>A (p.Pro537Thr) c.1531C>A (p.Pro511Thr) | |
10 | g.113588295C= | CA1937429180 | HABP2 | c.1609C= (p.Pro537=) c.1531C= (p.Pro511=) | |
10 | g.113588295C>G | CA214443809 | HABP2 | c.1609C>G (p.Pro537Ala) c.1531C>G (p.Pro511Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588295C>T | CA378422235 | HABP2 | c.1609C>T (p.Pro537Ser) c.1531C>T (p.Pro511Ser) | |
10 | g.113588296C>A | CA378422242 | HABP2 | c.1610C>A (p.Pro537Gln) c.1532C>A (p.Pro511Gln) | dbSNP |
10 | g.113588296C= | CA1937429181 | HABP2 | c.1610C= (p.Pro537=) c.1532C= (p.Pro511=) | |
10 | g.113588296C>G | CA378422246 | HABP2 | c.1610C>G (p.Pro537Arg) c.1532C>G (p.Pro511Arg) | |
10 | g.113588296C>T | CA378422247 | HABP2 | c.1610C>T (p.Pro537Leu) c.1532C>T (p.Pro511Leu) | |
10 | g.113588297A>C | CA471516942 | HABP2 | c.1611A>C (p.Pro537=) c.1533A>C (p.Pro511=) | |
10 | g.113588297A>G | CA471516944 | HABP2 | c.1611A>G (p.Pro537=) c.1533A>G (p.Pro511=) | |
10 | g.113588297A>T | CA471516946 | HABP2 | c.1611A>T (p.Pro537=) c.1533A>T (p.Pro511=) | |
10 | g.113588298G>A | CA378422250 | HABP2 | c.1612G>A (p.Gly538Arg) c.1534G>A (p.Gly512Arg) | |
10 | g.113588298G>C | CA378422253 | HABP2 | c.1612G>C (p.Gly538Arg) c.1534G>C (p.Gly512Arg) | |
10 | g.113588298G>T | CA378422255 | HABP2 | c.1612G>T (p.Gly538Trp) c.1534G>T (p.Gly512Trp) | gnomAD v4 |
10 | g.113588301del | CA2521013447 | HABP2 | c.1615del (p.Val539SerfsTer9) c.1537del (p.Val513SerfsTer9) | |
10 | g.113588299G>A | CA378422258 | HABP2 | c.1613G>A (p.Gly538Glu) c.1535G>A (p.Gly512Glu) | gnomAD v4 |
10 | g.113588299G>C | CA378422262 | HABP2 | c.1613G>C (p.Gly538Ala) c.1535G>C (p.Gly512Ala) | |
10 | g.113588299G>T | CA378422260 | HABP2 | c.1613G>T (p.Gly538Val) c.1535G>T (p.Gly512Val) | |
10 | g.113588300G>A | CA471516954 | HABP2 | c.1614G>A (p.Gly538=) c.1536G>A (p.Gly512=) | dbSNP gnomAD v2 |
10 | g.113588300G>C | CA471516955 | HABP2 | c.1614G>C (p.Gly538=) c.1536G>C (p.Gly512=) | |
10 | g.113588300G= | CA1937429182 | HABP2 | c.1614G= (p.Gly538=) c.1536G= (p.Gly512=) | |
10 | g.113588300G>T | CA471516957 | HABP2 | c.1614G>T (p.Gly538=) c.1536G>T (p.Gly512=) | gnomAD v4 |
10 | g.113588301G>A | CA378422264 | HABP2 | c.1615G>A (p.Val539Ile) c.1537G>A (p.Val513Ile) | |
10 | g.113588301G>C | CA378422267 | HABP2 | c.1615G>C (p.Val539Leu) c.1537G>C (p.Val513Leu) | |
10 | g.113588301G>T | CA378422269 | HABP2 | c.1615G>T (p.Val539Phe) c.1537G>T (p.Val513Phe) | |
10 | g.113588302T>A | CA378422272 | HABP2 | c.1616T>A (p.Val539Asp) c.1538T>A (p.Val513Asp) | |
10 | g.113588302T>C | CA378422274 | HABP2 | c.1616T>C (p.Val539Ala) c.1538T>C (p.Val513Ala) | |
10 | g.113588302T>G | CA378422276 | HABP2 | c.1616T>G (p.Val539Gly) c.1538T>G (p.Val513Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588302T= | CA1937429183 | HABP2 | c.1616T= (p.Val539=) c.1538T= (p.Val513=) | |
10 | g.113588303C>A | CA471516964 | HABP2 | c.1617C>A (p.Val539=) c.1539C>A (p.Val513=) | |
10 | g.113588303C= | CA1937429184 | HABP2 | c.1617C= (p.Val539=) c.1539C= (p.Val513=) | |
10 | g.113588303C>G | CA471516965 | HABP2 | c.1617C>G (p.Val539=) c.1539C>G (p.Val513=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588303C>T | CA471516966 | HABP2 | c.1617C>T (p.Val539=) c.1539C>T (p.Val513=) | |
10 | g.113588304T>A | CA378422279 | HABP2 | c.1618T>A (p.Tyr540Asn) c.1540T>A (p.Tyr514Asn) | |
10 | g.113588304T>C | CA378422282 | HABP2 | c.1618T>C (p.Tyr540His) c.1540T>C (p.Tyr514His) | |
10 | g.113588304T>G | CA378422284 | HABP2 | c.1618T>G (p.Tyr540Asp) c.1540T>G (p.Tyr514Asp) | |
10 | g.113588305A>C | CA378422286 | HABP2 | c.1619A>C (p.Tyr540Ser) c.1541A>C (p.Tyr514Ser) | |
10 | g.113588305A>G | CA378422288 | HABP2 | c.1619A>G (p.Tyr540Cys) c.1541A>G (p.Tyr514Cys) | |
10 | g.113588305A>T | CA378422290 | HABP2 | c.1619A>T (p.Tyr540Phe) c.1541A>T (p.Tyr514Phe) | |
10 | g.113588306C>A | CA378422293 | HABP2 | c.1620C>A (p.Tyr540Ter) c.1542C>A (p.Tyr514Ter) | |
10 | g.113588306C= | CA1937429185 | HABP2 | c.1620C= (p.Tyr540=) c.1542C= (p.Tyr514=) | |
10 | g.113588306C>G | CA378422296 | HABP2 | c.1620C>G (p.Tyr540Ter) c.1542C>G (p.Tyr514Ter) | |
10 | g.113588306C>T | CA471516977 | HABP2 | c.1620C>T (p.Tyr540=) c.1542C>T (p.Tyr514=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588307A= | CA1937429186 | HABP2 | c.1621A= (p.Thr541=) c.1543A= (p.Thr515=) | |
10 | g.113588307A>C | CA378422299 | HABP2 | c.1621A>C (p.Thr541Pro) c.1543A>C (p.Thr515Pro) | dbSNP |
10 | g.113588307A>G | CA378422304 | HABP2 | c.1621A>G (p.Thr541Ala) c.1543A>G (p.Thr515Ala) | |
10 | g.113588307A>T | CA378422301 | HABP2 | c.1621A>T (p.Thr541Ser) c.1543A>T (p.Thr515Ser) | |
10 | g.113588308C>A | CA378422307 | HABP2 | c.1622C>A (p.Thr541Asn) c.1544C>A (p.Thr515Asn) | gnomAD v4 |
10 | g.113588308C= | CA1937429187 | HABP2 | c.1622C= (p.Thr541=) c.1544C= (p.Thr515=) | |
10 | g.113588308C>G | CA378422309 | HABP2 | c.1622C>G (p.Thr541Ser) c.1544C>G (p.Thr515Ser) | |
10 | g.113588308C>T | CA378422312 | HABP2 | c.1622C>T (p.Thr541Ile) c.1544C>T (p.Thr515Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.113588309C>A | CA471516984 | HABP2 | c.1623C>A (p.Thr541=) c.1545C>A (p.Thr515=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588309C= | CA1937429188 | HABP2 | c.1623C= (p.Thr541=) c.1545C= (p.Thr515=) | |
10 | g.113588309C>G | CA471516985 | HABP2 | c.1623C>G (p.Thr541=) c.1545C>G (p.Thr515=) | |
10 | g.113588309C>T | CA471516986 | HABP2 | c.1623C>T (p.Thr541=) c.1545C>T (p.Thr515=) | |
10 | g.113588310C>A | CA378422315 | HABP2 | c.1624C>A (p.Gln542Lys) c.1546C>A (p.Gln516Lys) | dbSNP |
10 | g.113588310C= | CA1937429190 | HABP2 | c.1624C= (p.Gln542=) c.1546C= (p.Gln516=) | |
10 | g.113588310C>G | CA378422317 | HABP2 | c.1624C>G (p.Gln542Glu) c.1546C>G (p.Gln516Glu) | |
10 | g.113588310C>T | CA378422320 | HABP2 | c.1624C>T (p.Gln542Ter) c.1546C>T (p.Gln516Ter) | |
10 | g.113588310_113588312delinsCAA | CA1937429189 | HABP2 | c.1624_1626delinsCAA (p.Gln542=) c.1546_1548delinsCAA (p.Gln516=) | |
10 | g.113588311A>C | CA378422323 | HABP2 | c.1625A>C (p.Gln542Pro) c.1547A>C (p.Gln516Pro) | |
10 | g.113588311A>G | CA378422325 | HABP2 | c.1625A>G (p.Gln542Arg) c.1547A>G (p.Gln516Arg) | |
10 | g.113588311A>T | CA378422327 | HABP2 | c.1625A>T (p.Gln542Leu) c.1547A>T (p.Gln516Leu) | |
10 | g.113588311_113588312del | CA596112887 | HABP2 | c.1625_1626del (p.Gln542ArgfsTer15) c.1547_1548del (p.Gln516ArgfsTer15) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588312A= | CA1937429191 | HABP2 | c.1626A= (p.Gln542=) c.1548A= (p.Gln516=) | |
10 | g.113588312A>C | CA378422331 | HABP2 | c.1626A>C (p.Gln542His) c.1548A>C (p.Gln516His) | gnomAD v4 COSMIC |
10 | g.113588312A>G | CA471516993 | HABP2 | c.1626A>G (p.Gln542=) c.1548A>G (p.Gln516=) | dbSNP gnomAD v4 |
10 | g.113588312A>T | CA378422332 | HABP2 | c.1626A>T (p.Gln542His) c.1548A>T (p.Gln516His) | |
10 | g.113588313G>A | CA378422340 | HABP2 | c.1627G>A (p.Val543Ile) c.1549G>A (p.Val517Ile) | gnomAD v4 |
10 | g.113588313G>C | CA378422338 | HABP2 | c.1627G>C (p.Val543Leu) c.1549G>C (p.Val517Leu) | |
10 | g.113588313G= | CA1937429192 | HABP2 | c.1627G= (p.Val543=) c.1549G= (p.Val517=) | |
10 | g.113588313G>T | CA378422336 | HABP2 | c.1627G>T (p.Val543Phe) c.1549G>T (p.Val517Phe) | dbSNP gnomAD v4 |
10 | g.113588314T>A | CA378422342 | HABP2 | c.1628T>A (p.Val543Asp) c.1550T>A (p.Val517Asp) | |
10 | g.113588314T>C | CA378422345 | HABP2 | c.1628T>C (p.Val543Ala) c.1550T>C (p.Val517Ala) | |
10 | g.113588314T>G | CA378422347 | HABP2 | c.1628T>G (p.Val543Gly) c.1550T>G (p.Val517Gly) | |
10 | g.113588315T>A | CA471516996 | HABP2 | c.1629T>A (p.Val543=) c.1551T>A (p.Val517=) | |
10 | g.113588315T>C | CA471516997 | HABP2 | c.1629T>C (p.Val543=) c.1551T>C (p.Val517=) | |
10 | g.113588315T>G | CA471516998 | HABP2 | c.1629T>G (p.Val543=) c.1551T>G (p.Val517=) | |
10 | g.113588316A>C | CA378422350 | HABP2 | c.1630A>C (p.Thr544Pro) c.1552A>C (p.Thr518Pro) | |
10 | g.113588316A>G | CA378422352 | HABP2 | c.1630A>G (p.Thr544Ala) c.1552A>G (p.Thr518Ala) | |
10 | g.113588316A>T | CA378422354 | HABP2 | c.1630A>T (p.Thr544Ser) c.1552A>T (p.Thr518Ser) | |
10 | g.113588317C>A | CA378422357 | HABP2 | c.1631C>A (p.Thr544Asn) c.1553C>A (p.Thr518Asn) | |
10 | g.113588317C>G | CA378422361 | HABP2 | c.1631C>G (p.Thr544Ser) c.1553C>G (p.Thr518Ser) | |
10 | g.113588317C>T | CA378422363 | HABP2 | c.1631C>T (p.Thr544Ile) c.1553C>T (p.Thr518Ile) | |
10 | g.113588318C>A | CA471517009 | HABP2 | c.1632C>A (p.Thr544=) c.1554C>A (p.Thr518=) | |
10 | g.113588318C>G | CA471517008 | HABP2 | c.1632C>G (p.Thr544=) c.1554C>G (p.Thr518=) | gnomAD v4 |
10 | g.113588318C>T | CA471517010 | HABP2 | c.1632C>T (p.Thr544=) c.1554C>T (p.Thr518=) | |
10 | g.113588319A= | CA1937429193 | HABP2 | c.1633A= (p.Lys545=) c.1555A= (p.Lys519=) | |
10 | g.113588319A>C | CA214443813 | HABP2 | c.1633A>C (p.Lys545Gln) c.1555A>C (p.Lys519Gln) | dbSNP |
10 | g.113588319A>G | CA214443816 | HABP2 | c.1633A>G (p.Lys545Glu) c.1555A>G (p.Lys519Glu) | dbSNP |
10 | g.113588319A>T | CA378422369 | HABP2 | c.1633A>T (p.Lys545Ter) c.1555A>T (p.Lys519Ter) | |
10 | g.113588320A>C | CA378422375 | HABP2 | c.1634A>C (p.Lys545Thr) c.1556A>C (p.Lys519Thr) | |
10 | g.113588320A>G | CA378422373 | HABP2 | c.1634A>G (p.Lys545Arg) c.1556A>G (p.Lys519Arg) | gnomAD v4 |
10 | g.113588320A>T | CA378422371 | HABP2 | c.1634A>T (p.Lys545Ile) c.1556A>T (p.Lys519Ile) | |
10 | g.113588321A>C | CA378422379 | HABP2 | c.1635A>C (p.Lys545Asn) c.1557A>C (p.Lys519Asn) | |
10 | g.113588321A>G | CA471517018 | HABP2 | c.1635A>G (p.Lys545=) c.1557A>G (p.Lys519=) | |
10 | g.113588321A>T | CA378422381 | HABP2 | c.1635A>T (p.Lys545Asn) c.1557A>T (p.Lys519Asn) | |
10 | g.113588322T>A | CA378422383 | HABP2 | c.1636T>A (p.Phe546Ile) c.1558T>A (p.Phe520Ile) | |
10 | g.113588322T>C | CA378422385 | HABP2 | c.1636T>C (p.Phe546Leu) c.1558T>C (p.Phe520Leu) | |
10 | g.113588322T>G | CA5694089 | HABP2 | c.1636T>G (p.Phe546Val) c.1558T>G (p.Phe520Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588322T= | CA1937429194 | HABP2 | c.1636T= (p.Phe546=) c.1558T= (p.Phe520=) | |
10 | g.113588323T>A | CA378422395 | HABP2 | c.1637T>A (p.Phe546Tyr) c.1559T>A (p.Phe520Tyr) | |
10 | g.113588323T>C | CA5694090 | HABP2 | c.1637T>C (p.Phe546Ser) c.1559T>C (p.Phe520Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588323T>G | CA378422400 | HABP2 | c.1637T>G (p.Phe546Cys) c.1559T>G (p.Phe520Cys) | |
10 | g.113588323T= | CA1937429195 | HABP2 | c.1637T= (p.Phe546=) c.1559T= (p.Phe520=) | |
10 | g.113588324C>A | CA378422402 | HABP2 | c.1638C>A (p.Phe546Leu) c.1560C>A (p.Phe520Leu) | |
10 | g.113588324C= | CA1937429196 | HABP2 | c.1638C= (p.Phe546=) c.1560C= (p.Phe520=) | |
10 | g.113588324C>G | CA378422404 | HABP2 | c.1638C>G (p.Phe546Leu) c.1560C>G (p.Phe520Leu) | |
10 | g.113588324C>T | CA471517026 | HABP2 | c.1638C>T (p.Phe546=) c.1560C>T (p.Phe520=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588325C>A | CA378422407 | HABP2 | c.1639C>A (p.Leu547Met) c.1561C>A (p.Leu521Met) | |
10 | g.113588325C= | CA1937429197 | HABP2 | c.1639C= (p.Leu547=) c.1561C= (p.Leu521=) | |
10 | g.113588325C>G | CA378422408 | HABP2 | c.1639C>G (p.Leu547Val) c.1561C>G (p.Leu521Val) | |
10 | g.113588325C>T | CA214443831 | HABP2 | c.1639C>T (p.Leu547=) c.1561C>T (p.Leu521=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113588326T>A | CA378422417 | HABP2 | c.1640T>A (p.Leu547Gln) c.1562T>A (p.Leu521Gln) | |
10 | g.113588326T>C | CA378422414 | HABP2 | c.1640T>C (p.Leu547Pro) c.1562T>C (p.Leu521Pro) | |
10 | g.113588326T>G | CA378422411 | HABP2 | c.1640T>G (p.Leu547Arg) c.1562T>G (p.Leu521Arg) | |
10 | g.113588327G>A | CA471517032 | HABP2 | c.1641G>A (p.Leu547=) c.1563G>A (p.Leu521=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588327G>C | CA471517039 | HABP2 | c.1641G>C (p.Leu547=) c.1563G>C (p.Leu521=) | |
10 | g.113588327G= | CA1937429198 | HABP2 | c.1641G= (p.Leu547=) c.1563G= (p.Leu521=) | |
10 | g.113588327G>T | CA471517041 | HABP2 | c.1641G>T (p.Leu547=) c.1563G>T (p.Leu521=) | |
10 | g.113588328A>C | CA378422420 | HABP2 | c.1642A>C (p.Asn548His) c.1564A>C (p.Asn522His) | |
10 | g.113588328A>G | CA378422423 | HABP2 | c.1642A>G (p.Asn548Asp) c.1564A>G (p.Asn522Asp) | gnomAD v4 |
10 | g.113588328A>T | CA378422430 | HABP2 | c.1642A>T (p.Asn548Tyr) c.1564A>T (p.Asn522Tyr) | |
10 | g.113588329A= | CA1937429199 | HABP2 | c.1643A= (p.Asn548=) c.1565A= (p.Asn522=) | |
10 | g.113588329A>C | CA378422433 | HABP2 | c.1643A>C (p.Asn548Thr) c.1565A>C (p.Asn522Thr) | |
10 | g.113588329A>G | CA214443833 | HABP2 | c.1643A>G (p.Asn548Ser) c.1565A>G (p.Asn522Ser) | dbSNP gnomAD v4 |
10 | g.113588329A>T | CA378422438 | HABP2 | c.1643A>T (p.Asn548Ile) c.1565A>T (p.Asn522Ile) | gnomAD v4 |
10 | g.113588330T>A | CA378422441 | HABP2 | c.1644T>A (p.Asn548Lys) c.1566T>A (p.Asn522Lys) | gnomAD v4 |
10 | g.113588330T>C | CA5694091 | HABP2 | c.1644T>C (p.Asn548=) c.1566T>C (p.Asn522=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588330T>G | CA378422446 | HABP2 | c.1644T>G (p.Asn548Lys) c.1566T>G (p.Asn522Lys) | |
10 | g.113588330T= | CA1937429200 | HABP2 | c.1644T= (p.Asn548=) c.1566T= (p.Asn522=) | |
10 | g.113588331T>A | CA378422449 | HABP2 | c.1645T>A (p.Trp549Arg) c.1567T>A (p.Trp523Arg) | |
10 | g.113588331T>C | CA378422451 | HABP2 | c.1645T>C (p.Trp549Arg) c.1567T>C (p.Trp523Arg) | |
10 | g.113588331T>G | CA378422454 | HABP2 | c.1645T>G (p.Trp549Gly) c.1567T>G (p.Trp523Gly) | |
10 | g.113588332G>A | CA5694092 | HABP2 | c.1646G>A (p.Trp549Ter) c.1568G>A (p.Trp523Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588332G>C | CA378422463 | HABP2 | c.1646G>C (p.Trp549Ser) c.1568G>C (p.Trp523Ser) | |
10 | g.113588332G= | CA1937429201 | HABP2 | c.1646G= (p.Trp549=) c.1568G= (p.Trp523=) | |
10 | g.113588332G>T | CA378422459 | HABP2 | c.1646G>T (p.Trp549Leu) c.1568G>T (p.Trp523Leu) | gnomAD v4 |
10 | g.113588333G>A | CA378422467 | HABP2 | c.1647G>A (p.Trp549Ter) c.1569G>A (p.Trp523Ter) | gnomAD v4 COSMIC |
10 | g.113588333G>C | CA378422472 | HABP2 | c.1647G>C (p.Trp549Cys) c.1569G>C (p.Trp523Cys) | |
10 | g.113588333G>T | CA378422470 | HABP2 | c.1647G>T (p.Trp549Cys) c.1569G>T (p.Trp523Cys) | |
10 | g.113588334del | CA2741130563 | HABP2 | c.1648del (p.Ile550SerfsTer27) c.1570del (p.Ile524SerfsTer27) | |
10 | g.113588334A>C | CA378422475 | HABP2 | c.1648A>C (p.Ile550Leu) c.1570A>C (p.Ile524Leu) | |
10 | g.113588334A>G | CA378422478 | HABP2 | c.1648A>G (p.Ile550Val) c.1570A>G (p.Ile524Val) | |
10 | g.113588334A>T | CA378422480 | HABP2 | c.1648A>T (p.Ile550Phe) c.1570A>T (p.Ile524Phe) | |
10 | g.113588335T>A | CA378422483 | HABP2 | c.1649T>A (p.Ile550Asn) c.1571T>A (p.Ile524Asn) | |
10 | g.113588335T>C | CA378422485 | HABP2 | c.1649T>C (p.Ile550Thr) c.1571T>C (p.Ile524Thr) | |
10 | g.113588335T>G | CA378422486 | HABP2 | c.1649T>G (p.Ile550Ser) c.1571T>G (p.Ile524Ser) | |
10 | g.113588336C>A | CA471517069 | HABP2 | c.1650C>A (p.Ile550=) c.1572C>A (p.Ile524=) | |
10 | g.113588336C>G | CA378422490 | HABP2 | c.1650C>G (p.Ile550Met) c.1572C>G (p.Ile524Met) | gnomAD v4 |
10 | g.113588336C>T | CA471517071 | HABP2 | c.1650C>T (p.Ile550=) c.1572C>T (p.Ile524=) | |
10 | g.113588337A= | CA1937429202 | HABP2 | c.1651A= (p.Lys551=) c.1573A= (p.Lys525=) | |
10 | g.113588337A>C | CA378422503 | HABP2 | c.1651A>C (p.Lys551Gln) c.1573A>C (p.Lys525Gln) | |
10 | g.113588337A>G | CA214443838 | HABP2 | c.1651A>G (p.Lys551Glu) c.1573A>G (p.Lys525Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113588337A>T | CA378422494 | HABP2 | c.1651A>T (p.Lys551Ter) c.1573A>T (p.Lys525Ter) | |
10 | g.113588338A>C | CA378422507 | HABP2 | c.1652A>C (p.Lys551Thr) c.1574A>C (p.Lys525Thr) | |
10 | g.113588338A>G | CA378422508 | HABP2 | c.1652A>G (p.Lys551Arg) c.1574A>G (p.Lys525Arg) | |
10 | g.113588338A>T | CA378422509 | HABP2 | c.1652A>T (p.Lys551Ile) c.1574A>T (p.Lys525Ile) | |
10 | g.113588339A>C | CA378422511 | HABP2 | c.1653A>C (p.Lys551Asn) c.1575A>C (p.Lys525Asn) | |
10 | g.113588339A>G | CA471517074 | HABP2 | c.1653A>G (p.Lys551=) c.1575A>G (p.Lys525=) | gnomAD v4 |
10 | g.113588339A>T | CA378422512 | HABP2 | c.1653A>T (p.Lys551Asn) c.1575A>T (p.Lys525Asn) | |
10 | g.113588340G>A | CA378422519 | HABP2 | c.1654G>A (p.Ala552Thr) c.1576G>A (p.Ala526Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588340G>C | CA378422514 | HABP2 | c.1654G>C (p.Ala552Pro) c.1576G>C (p.Ala526Pro) | |
10 | g.113588340G= | CA1937429204 | HABP2 | c.1654G= (p.Ala552=) c.1576G= (p.Ala526=) | |
10 | g.113588340G>T | CA378422517 | HABP2 | c.1654G>T (p.Ala552Ser) c.1576G>T (p.Ala526Ser) | |
10 | g.113588340_113588343delinsGCCA | CA1937429203 | HABP2 | c.1654_1657delinsGCCA (p.Ala552=) c.1576_1579delinsGCCA (p.Ala526=) | |
10 | g.113588341C>A | CA378422521 | HABP2 | c.1655C>A (p.Ala552Asp) c.1577C>A (p.Ala526Asp) | |
10 | g.113588341C>G | CA378422523 | HABP2 | c.1655C>G (p.Ala552Gly) c.1577C>G (p.Ala526Gly) | |
10 | g.113588341C>T | CA378422524 | HABP2 | c.1655C>T (p.Ala552Val) c.1577C>T (p.Ala526Val) | |
10 | g.113588344_113588346del | CA5694093 | HABP2 | c.1658_1660del (p.Thr553del) c.1580_1582del (p.Thr527del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588342C>A | CA471517078 | HABP2 | c.1656C>A (p.Ala552=) c.1578C>A (p.Ala526=) | |
10 | g.113588342C= | CA1937429205 | HABP2 | c.1656C= (p.Ala552=) c.1578C= (p.Ala526=) | |
10 | g.113588342C>G | CA471517081 | HABP2 | c.1656C>G (p.Ala552=) c.1578C>G (p.Ala526=) | COSMIC |
10 | g.113588342C>T | CA471517084 | HABP2 | c.1656C>T (p.Ala552=) c.1578C>T (p.Ala526=) | dbSNP |
10 | g.113588343A>C | CA378422525 | HABP2 | c.1657A>C (p.Thr553Pro) c.1579A>C (p.Thr527Pro) | |
10 | g.113588343A>G | CA378422526 | HABP2 | c.1657A>G (p.Thr553Ala) c.1579A>G (p.Thr527Ala) | |
10 | g.113588343A>T | CA378422527 | HABP2 | c.1657A>T (p.Thr553Ser) c.1579A>T (p.Thr527Ser) | |
10 | g.113588344C>A | CA378422528 | HABP2 | c.1658C>A (p.Thr553Asn) c.1580C>A (p.Thr527Asn) | |
10 | g.113588344C= | CA1937429206 | HABP2 | c.1658C= (p.Thr553=) c.1580C= (p.Thr527=) | |
10 | g.113588344C>G | CA5694094 | HABP2 | c.1658C>G (p.Thr553Ser) c.1580C>G (p.Thr527Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588344C>T | CA378422529 | HABP2 | c.1658C>T (p.Thr553Ile) c.1580C>T (p.Thr527Ile) | |
10 | g.113588345C>A | CA471517091 | HABP2 | c.1659C>A (p.Thr553=) c.1581C>A (p.Thr527=) | |
10 | g.113588345C>G | CA471517094 | HABP2 | c.1659C>G (p.Thr553=) c.1581C>G (p.Thr527=) | |
10 | g.113588345C>T | CA471517093 | HABP2 | c.1659C>T (p.Thr553=) c.1581C>T (p.Thr527=) | gnomAD v4 |
10 | g.113588347_113588349dup | CA596112888 | HABP2 | c.1661_1663dup (p.Ile554_Lys555insIle) c.1583_1585dup (p.Ile528_Lys529insIle) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588346A= | CA1937429207 | HABP2 | c.1660A= (p.Ile554=) c.1582A= (p.Ile528=) | |
10 | g.113588346A>C | CA378422531 | HABP2 | c.1660A>C (p.Ile554Leu) c.1582A>C (p.Ile528Leu) | |
10 | g.113588346A>G | CA5694095 | HABP2 | c.1660A>G (p.Ile554Val) c.1582A>G (p.Ile528Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588346A>T | CA378422535 | HABP2 | c.1660A>T (p.Ile554Phe) c.1582A>T (p.Ile528Phe) | |
10 | g.113588347T>A | CA378422538 | HABP2 | c.1661T>A (p.Ile554Asn) c.1583T>A (p.Ile528Asn) | |
10 | g.113588347T>C | CA5694096 | HABP2 | c.1661T>C (p.Ile554Thr) c.1583T>C (p.Ile528Thr) | dbSNP ExAC gnomAD v2 |
10 | g.113588347T>G | CA378422540 | HABP2 | c.1661T>G (p.Ile554Ser) c.1583T>G (p.Ile528Ser) | |
10 | g.113588347T= | CA1937429208 | HABP2 | c.1661T= (p.Ile554=) c.1583T= (p.Ile528=) | |
10 | g.113588347_113588348delinsTC | CA1937429209 | HABP2 | c.1661_1662delinsTC (p.Ile554=) c.1583_1584delinsTC (p.Ile528=) | |
10 | g.113588348del | CA596112889 | HABP2 | c.1662del (p.Ser556ValfsTer21) c.1584del (p.Ser530ValfsTer21) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588348C>A | CA471517106 | HABP2 | c.1662C>A (p.Ile554=) c.1584C>A (p.Ile528=) | |
10 | g.113588348C= | CA1937429210 | HABP2 | c.1662C= (p.Ile554=) c.1584C= (p.Ile528=) | |
10 | g.113588348C>G | CA378422543 | HABP2 | c.1662C>G (p.Ile554Met) c.1584C>G (p.Ile528Met) | |
10 | g.113588348C>T | CA5694097 | HABP2 | c.1662C>T (p.Ile554=) c.1584C>T (p.Ile528=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588349A= | CA1937429211 | HABP2 | c.1663A= (p.Lys555=) c.1585A= (p.Lys529=) | |
10 | g.113588349A>C | CA378422548 | HABP2 | c.1663A>C (p.Lys555Gln) c.1585A>C (p.Lys529Gln) | |
10 | g.113588349A>G | CA378422550 | HABP2 | c.1663A>G (p.Lys555Glu) c.1585A>G (p.Lys529Glu) | gnomAD v4 |
10 | g.113588349A>T | CA378422552 | HABP2 | c.1663A>T (p.Lys555Ter) c.1585A>T (p.Lys529Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588350A>C | CA378422554 | HABP2 | c.1664A>C (p.Lys555Thr) c.1586A>C (p.Lys529Thr) | |
10 | g.113588350A>G | CA378422556 | HABP2 | c.1664A>G (p.Lys555Arg) c.1586A>G (p.Lys529Arg) | |
10 | g.113588350A>T | CA378422557 | HABP2 | c.1664A>T (p.Lys555Ile) c.1586A>T (p.Lys529Ile) | |
10 | g.113588351A>C | CA378422558 | HABP2 | c.1665A>C (p.Lys555Asn) c.1587A>C (p.Lys529Asn) | |
10 | g.113588351A>G | CA471517133 | HABP2 | c.1665A>G (p.Lys555=) c.1587A>G (p.Lys529=) | |
10 | g.113588351A>T | CA378422560 | HABP2 | c.1665A>T (p.Lys555Asn) c.1587A>T (p.Lys529Asn) | |
10 | g.113588351_113588353dup | CA2610952450 | HABP2 | c.1665_1667dup (p.Lys555_Ser556insArg) c.1587_1589dup (p.Lys529_Ser530insArg) | gnomAD v4 |
10 | g.113588352A>C | CA378422562 | HABP2 | c.1666A>C (p.Ser556Arg) c.1588A>C (p.Ser530Arg) | |
10 | g.113588352A>G | CA378422564 | HABP2 | c.1666A>G (p.Ser556Gly) c.1588A>G (p.Ser530Gly) | |
10 | g.113588352A>T | CA378422565 | HABP2 | c.1666A>T (p.Ser556Cys) c.1588A>T (p.Ser530Cys) | |
10 | g.113588353del | CA2574672126 | HABP2 | c.1667del (p.Ser556MetfsTer21) c.1589del (p.Ser530MetfsTer21) | gnomAD v4 |
10 | g.113588353G>A | CA378422570 | HABP2 | c.1667G>A (p.Ser556Asn) c.1589G>A (p.Ser530Asn) | |
10 | g.113588353G>C | CA378422567 | HABP2 | c.1667G>C (p.Ser556Thr) c.1589G>C (p.Ser530Thr) | |
10 | g.113588353G>T | CA378422568 | HABP2 | c.1667G>T (p.Ser556Ile) c.1589G>T (p.Ser530Ile) | |
10 | g.113588354T>A | CA378422572 | HABP2 | c.1668T>A (p.Ser556Arg) c.1590T>A (p.Ser530Arg) | |
10 | g.113588354T>C | CA471517147 | HABP2 | c.1668T>C (p.Ser556=) c.1590T>C (p.Ser530=) | |
10 | g.113588354T>G | CA378422574 | HABP2 | c.1668T>G (p.Ser556Arg) c.1590T>G (p.Ser530Arg) | |
10 | g.113588355G>A | CA378422576 | HABP2 | c.1669G>A (p.Glu557Lys) c.1591G>A (p.Glu531Lys) | COSMIC |
10 | g.113588355G>C | CA378422578 | HABP2 | c.1669G>C (p.Glu557Gln) c.1591G>C (p.Glu531Gln) | gnomAD v4 |
10 | g.113588355G>T | CA378422580 | HABP2 | c.1669G>T (p.Glu557Ter) c.1591G>T (p.Glu531Ter) | |
10 | g.113588356A= | CA1937429212 | HABP2 | c.1670A= (p.Glu557=) c.1592A= (p.Glu531=) | |
10 | g.113588356A>C | CA378422581 | HABP2 | c.1670A>C (p.Glu557Ala) c.1592A>C (p.Glu531Ala) | |
10 | g.113588356A>G | CA378422583 | HABP2 | c.1670A>G (p.Glu557Gly) c.1592A>G (p.Glu531Gly) | gnomAD v4 |
10 | g.113588356A>T | CA378422584 | HABP2 | c.1670A>T (p.Glu557Val) c.1592A>T (p.Glu531Val) | |
10 | g.113588358del | CA2574672127 | HABP2 | c.1672del (p.Ser558ValfsTer19) c.1594del (p.Ser532ValfsTer19) | |
10 | g.113588357A>C | CA378422587 | HABP2 | c.1671A>C (p.Glu557Asp) c.1593A>C (p.Glu531Asp) | |
10 | g.113588357A>G | CA471517156 | HABP2 | c.1671A>G (p.Glu557=) c.1593A>G (p.Glu531=) | |
10 | g.113588357A>T | CA378422588 | HABP2 | c.1671A>T (p.Glu557Asp) c.1593A>T (p.Glu531Asp) | |
10 | g.113588357_113588360dup | CA5694098 | HABP2 | c.1671_1674dup (p.Gly559LysfsTer?) c.1593_1596dup (p.Gly533LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588358A>C | CA378422591 | HABP2 | c.1672A>C (p.Ser558Arg) c.1594A>C (p.Ser532Arg) | |
10 | g.113588358A>G | CA378422597 | HABP2 | c.1672A>G (p.Ser558Gly) c.1594A>G (p.Ser532Gly) | |
10 | g.113588358A>T | CA378422595 | HABP2 | c.1672A>T (p.Ser558Cys) c.1594A>T (p.Ser532Cys) | |
10 | g.113588359G>A | CA5694099 | HABP2 | c.1673G>A (p.Ser558Asn) c.1595G>A (p.Ser532Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588359G>C | CA378422604 | HABP2 | c.1673G>C (p.Ser558Thr) c.1595G>C (p.Ser532Thr) | |
10 | g.113588359G= | CA1937429213 | HABP2 | c.1673G= (p.Ser558=) c.1595G= (p.Ser532=) | |
10 | g.113588359G>T | CA378422601 | HABP2 | c.1673G>T (p.Ser558Ile) c.1595G>T (p.Ser532Ile) | |
10 | g.113588360T>A | CA378422607 | HABP2 | c.1674T>A (p.Ser558Arg) c.1596T>A (p.Ser532Arg) | |
10 | g.113588360T>C | CA471517165 | HABP2 | c.1674T>C (p.Ser558=) c.1596T>C (p.Ser532=) | dbSNP |
10 | g.113588360T>G | CA378422610 | HABP2 | c.1674T>G (p.Ser558Arg) c.1596T>G (p.Ser532Arg) | |
10 | g.113588361G>A | CA378422614 | HABP2 | c.1675G>A (p.Gly559Ser) c.1597G>A (p.Gly533Ser) | |
10 | g.113588361G>C | CA378422620 | HABP2 | c.1675G>C (p.Gly559Arg) c.1597G>C (p.Gly533Arg) | |
10 | g.113588361G>T | CA378422623 | HABP2 | c.1675G>T (p.Gly559Cys) c.1597G>T (p.Gly533Cys) | |
10 | g.113588362dup | CA2843266134 | HABP2 | c.1676dup (p.Phe560LeufsTer?) c.1598dup (p.Phe534LeufsTer?) | |
10 | g.113588362G>A | CA378422625 | HABP2 | c.1676G>A (p.Gly559Asp) c.1598G>A (p.Gly533Asp) | |
10 | g.113588362G>C | CA378422627 | HABP2 | c.1676G>C (p.Gly559Ala) c.1598G>C (p.Gly533Ala) | |
10 | g.113588362G>T | CA378422628 | HABP2 | c.1676G>T (p.Gly559Val) c.1598G>T (p.Gly533Val) | gnomAD v4 |
10 | g.113588363C>A | CA471517171 | HABP2 | c.1677C>A (p.Gly559=) c.1599C>A (p.Gly533=) | |
10 | g.113588363C>G | CA471517172 | HABP2 | c.1677C>G (p.Gly559=) c.1599C>G (p.Gly533=) | |
10 | g.113588363C>T | CA471517176 | HABP2 | c.1677C>T (p.Gly559=) c.1599C>T (p.Gly533=) | gnomAD v4 |
10 | g.113588364T>A | CA378422632 | HABP2 | c.1678T>A (p.Phe560Ile) c.1600T>A (p.Phe534Ile) | |
10 | g.113588364T>C | CA378422640 | HABP2 | c.1678T>C (p.Phe560Leu) c.1600T>C (p.Phe534Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588364T>G | CA378422641 | HABP2 | c.1678T>G (p.Phe560Val) c.1600T>G (p.Phe534Val) | gnomAD v4 |
10 | g.113588364T= | CA1937429214 | HABP2 | c.1678T= (p.Phe560=) c.1600T= (p.Phe534=) | |
10 | g.113588365T>A | CA378422650 | HABP2 | c.1679T>A (p.Phe560Tyr) c.1601T>A (p.Phe534Tyr) | |
10 | g.113588365T>C | CA378422649 | HABP2 | c.1679T>C (p.Phe560Ser) c.1601T>C (p.Phe534Ser) | |
10 | g.113588365T>G | CA378422646 | HABP2 | c.1679T>G (p.Phe560Cys) c.1601T>G (p.Phe534Cys) | |
10 | g.113588366C>A | CA5694100 | HABP2 | c.1680C>A (p.Phe560Leu) c.1602C>A (p.Phe534Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588366C= | CA1937429215 | HABP2 | c.1680C= (p.Phe560=) c.1602C= (p.Phe534=) | |
10 | g.113588366C>G | CA378422655 | HABP2 | c.1680C>G (p.Phe560Leu) c.1602C>G (p.Phe534Leu) | |
10 | g.113588366C>T | CA471517191 | HABP2 | c.1680C>T (p.Phe560=) c.1602C>T (p.Phe534=) | dbSNP |
10 | g.113588367T>A | CA378422658 | HABP2 | c.1681T>A (p.Ter561Lys) c.1603T>A (p.Ter535Lys) | |
10 | g.113588367T>C | CA378422659 | HABP2 | c.1681T>C (p.Ter561Gln) c.1603T>C (p.Ter535Gln) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588367T>G | CA378422661 | HABP2 | c.1681T>G (p.Ter561Glu) c.1603T>G (p.Ter535Glu) | |
10 | g.113588367T= | CA1937429216 | HABP2 | c.1681T= (p.Ter561=) c.1603T= (p.Ter535=) | |
10 | g.113588368A>C | CA378422663 | HABP2 | c.1682A>C (p.Ter561Ser) c.1604A>C (p.Ter535Ser) | |
10 | g.113588368A>G | CA471517198 | HABP2 | c.1682A>G (p.Ter561=) c.1604A>G (p.Ter535=) | |
10 | g.113588368A>T | CA378422666 | HABP2 | c.1682A>T (p.Ter561Leu) c.1604A>T (p.Ter535Leu) | |
10 | g.113588369A>C | CA378422667 | HABP2 | c.1683A>C (p.Ter561Tyr) c.1605A>C (p.Ter535Tyr) | |
10 | g.113588369A>G | CA471517205 | HABP2 | c.1683A>G (p.Ter561=) c.1605A>G (p.Ter535=) | |
10 | g.113588369A>T | CA378422668 | HABP2 | c.1683A>T (p.Ter561Tyr) c.1605A>T (p.Ter535Tyr) | |
10 | g.113588369_113588370delinsAG | CA1937429217 | HABP2 | c.1683_*1delinsAG (n.[c.1683_*1delinsAG;Ter561=]) c.1605_*1delinsAG (n.[c.1605_*1delinsAG;Ter535=]) | |
10 | g.113588370G>C | CA1937429219 | HABP2 | c.*1G>C (n.*1G>C) | dbSNP |
10 | g.113588370G= | CA1937429218 | HABP2 | c.*1G= (n.*1G=) | |
10 | g.113588371del | CA932715812 | HABP2 | c.*2del (n.*2del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.113588372T>G | CA1937429221 | HABP2 | c.*3T>G (n.*3T>G) | dbSNP |
10 | g.113588372T= | CA1937429220 | HABP2 | c.*3T= (n.*3T=) | |
10 | g.113588374C>A | CA214443855 | HABP2 | c.*5C>A (n.*5C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.113588374C= | CA1937429222 | HABP2 | c.*5C= (n.*5C=) | |
10 | g.113588376_113588379dup | CA2610952451 | HABP2 | c.*7_*10dup (n.*7_*10dup) | gnomAD v4 |
10 | g.113588375T>C | CA5694101 | HABP2 | c.*6T>C (n.*6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588375T= | CA1937429223 | HABP2 | c.*6T= (n.*6T=) | |
10 | g.113588376G>A | CA5694102 | HABP2 | c.*7G>A (n.*7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588376G>C | CA596112890 | HABP2 | c.*7G>C (n.*7G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588376G= | CA1937429224 | HABP2 | c.*7G= (n.*7G=) | |
10 | g.113588377T>A | CA1937429226 | HABP2 | c.*8T>A (n.*8T>A) | dbSNP |
10 | g.113588377T= | CA1937429225 | HABP2 | c.*8T= (n.*8T=) | |
10 | g.113588378C>A | CA5694103 | HABP2 | c.*9C>A (n.*9C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588378C= | CA1937429227 | HABP2 | c.*9C= (n.*9C=) | |
10 | g.113588381del | CA2610952452 | HABP2 | c.*12del (n.*12del) | gnomAD v4 |
10 | g.113588381C>T | CA2610952453 | HABP2 | c.*12C>T (n.*12C>T) | gnomAD v4 |
10 | g.113588382T>A | CA2574672128 | HABP2 | c.*13T>A (n.*13T>A) | gnomAD v4 |
10 | g.113588383G>A | CA2610952454 | HABP2 | c.*14G>A (n.*14G>A) | gnomAD v4 |
10 | g.113588384G>A | CA5694104 | HABP2 | c.*15G>A (n.*15G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588384G= | CA1937429228 | HABP2 | c.*15G= (n.*15G=) | |
10 | g.113588385A= | CA1937429229 | HABP2 | c.*16A= (n.*16A=) | |
10 | g.113588385A>T | CA596112891 | HABP2 | c.*16A>T (n.*16A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588386C>A | CA2610952455 | HABP2 | c.*17C>A (n.*17C>A) | gnomAD v4 |
10 | g.113588386C>T | CA2722899242 | HABP2 | c.*17C>T (n.*17C>T) | dbSNP |
10 | g.113588387del | CA2574672129 | HABP2 | c.*18del (n.*18del) | |
10 | g.113588387C>A | CA5694106 | HABP2 | c.*18C>A (n.*18C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588387C= | CA1937429230 | HABP2 | c.*18C= (n.*18C=) | |
10 | g.113588387C>G | CA5694105 | HABP2 | c.*18C>G (n.*18C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588388T>A | CA5694107 | HABP2 | c.*19T>A (n.*19T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588388T>G | CA5694108 | HABP2 | c.*19T>G (n.*19T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.113588388T= | CA1937429231 | HABP2 | c.*19T= (n.*19T=) | |
10 | g.113588390A>G | CA2610952456 | HABP2 | c.*21A>G (n.*21A>G) | gnomAD v4 |
10 | g.113588392A= | CA1937429232 | HABP2 | c.*23A= (n.*23A=) | |
10 | g.113588392A>C | CA5694109 | HABP2 | c.*23A>C (n.*23A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588393G>A | CA5694111 | HABP2 | c.*24G>A (n.*24G>A) | dbSNP ExAC gnomAD v2 |
10 | g.113588393G= | CA1937429234 | HABP2 | c.*24G= (n.*24G=) | |
10 | g.113588393G>T | CA2843266135 | HABP2 | c.*24G>T (n.*24G>T) | |
10 | g.113588393_113588394delinsGC | CA1937429233 | HABP2 | c.*24_*25delinsGC (n.*24_*25delinsGC) | |
10 | g.113588394C>A | CA2610952457 | HABP2 | c.*25C>A (n.*25C>A) | gnomAD v4 |
10 | g.113588394C= | CA1937429235 | HABP2 | c.*25C= (n.*25C=) | |
10 | g.113588394C>G | CA596112892 | HABP2 | c.*25C>G (n.*25C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.113588394C>T | CA2610952458 | HABP2 | c.*25C>T (n.*25C>T) | gnomAD v4 |
10 | g.113588396dup | CA2839749733 | HABP2 | c.*27dup (n.*27dup) | |
10 | g.113588396del | CA5694110 | HABP2 | c.*27del (n.*27del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |