Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.149482761C>A | CA414517636 | IDS | c.1638G>T (p.Gln546His) c.1005G>T (p.Gln335His) c.1368G>T (p.Gln456His) | |
X | g.149482761C>G | CA414517637 | IDS | c.1638G>C (p.Gln546His) c.1005G>C (p.Gln335His) c.1368G>C (p.Gln456His) | |
X | g.149482761C>T | CA519057373 | IDS | c.1638G>A (p.Gln546=) c.1005G>A (p.Gln335=) c.1368G>A (p.Gln456=) | |
X | g.149482762T>A | CA414517638 | IDS | c.1637A>T (p.Gln546Leu) c.1004A>T (p.Gln335Leu) c.1367A>T (p.Gln456Leu) | |
X | g.149482762T>C | CA414517640 | IDS | c.1637A>G (p.Gln546Arg) c.1004A>G (p.Gln335Arg) c.1367A>G (p.Gln456Arg) | gnomAD v4 |
X | g.149482762T>G | CA414517639 | IDS | c.1637A>C (p.Gln546Pro) c.1004A>C (p.Gln335Pro) c.1367A>C (p.Gln456Pro) | |
X | g.149482763G>A | CA414517641 | IDS | c.1636C>T (p.Gln546Ter) c.1003C>T (p.Gln335Ter) c.1366C>T (p.Gln456Ter) | dbSNP gnomAD v4 |
X | g.149482763G>C | CA414517642 | IDS | c.1636C>G (p.Gln546Glu) c.1003C>G (p.Gln335Glu) c.1366C>G (p.Gln456Glu) | |
X | g.149482763G= | CA2465003923 | IDS | c.1636C= (p.Gln546=) c.1003C= (p.Gln335=) c.1366C= (p.Gln456=) | |
X | g.149482763G>T | CA414517643 | IDS | c.1636C>A (p.Gln546Lys) c.1003C>A (p.Gln335Lys) c.1366C>A (p.Gln456Lys) | |
X | g.149482764G>A | CA519057374 | IDS | c.1635C>T (p.Phe545=) c.1002C>T (p.Phe334=) c.1365C>T (p.Phe455=) | |
X | g.149482764G>C | CA414517644 | IDS | c.1635C>G (p.Phe545Leu) c.1002C>G (p.Phe334Leu) c.1365C>G (p.Phe455Leu) | |
X | g.149482764G>T | CA414517645 | IDS | c.1635C>A (p.Phe545Leu) c.1002C>A (p.Phe334Leu) c.1365C>A (p.Phe455Leu) | |
X | g.149482765A= | CA2465003924 | IDS | c.1634T= (p.Phe545=) c.1001T= (p.Phe334=) c.1364T= (p.Phe455=) | |
X | g.149482765A>C | CA414517646 | IDS | c.1634T>G (p.Phe545Cys) c.1001T>G (p.Phe334Cys) c.1364T>G (p.Phe455Cys) | |
X | g.149482765A>G | CA337035518 | IDS | c.1634T>C (p.Phe545Ser) c.1001T>C (p.Phe334Ser) c.1364T>C (p.Phe455Ser) | dbSNP |
X | g.149482765A>T | CA414517647 | IDS | c.1634T>A (p.Phe545Tyr) c.1001T>A (p.Phe334Tyr) c.1364T>A (p.Phe455Tyr) | gnomAD v4 |
X | g.149482768del | CA2694908954 | IDS | c.1634del (p.Phe545SerfsTer4) c.1001del (p.Phe334SerfsTer4) c.1364del (p.Phe455SerfsTer4) | gnomAD v4 |
X | g.149482766A>C | CA414517648 | IDS | c.1633T>G (p.Phe545Val) c.1000T>G (p.Phe334Val) c.1363T>G (p.Phe455Val) | |
X | g.149482766A>G | CA414517649 | IDS | c.1633T>C (p.Phe545Leu) c.1000T>C (p.Phe334Leu) c.1363T>C (p.Phe455Leu) | |
X | g.149482766A>T | CA414517650 | IDS | c.1633T>A (p.Phe545Ile) c.1000T>A (p.Phe334Ile) c.1363T>A (p.Phe455Ile) | |
X | g.149482767A>C | CA519057375 | IDS | c.1632T>G (p.Leu544=) c.999T>G (p.Leu333=) c.1362T>G (p.Leu454=) | |
X | g.149482767A>G | CA519057376 | IDS | c.1632T>C (p.Leu544=) c.999T>C (p.Leu333=) c.1362T>C (p.Leu454=) | |
X | g.149482767A>T | CA519057377 | IDS | c.1632T>A (p.Leu544=) c.999T>A (p.Leu333=) c.1362T>A (p.Leu454=) | |
X | g.149482768A>C | CA414517653 | IDS | c.1631T>G (p.Leu544Arg) c.998T>G (p.Leu333Arg) c.1361T>G (p.Leu454Arg) | |
X | g.149482768A>G | CA414517652 | IDS | c.1631T>C (p.Leu544Pro) c.998T>C (p.Leu333Pro) c.1361T>C (p.Leu454Pro) | |
X | g.149482768A>T | CA414517651 | IDS | c.1631T>A (p.Leu544His) c.998T>A (p.Leu333His) c.1361T>A (p.Leu454His) | |
X | g.149482769G>A | CA414517654 | IDS | c.1630C>T (p.Leu544Phe) c.997C>T (p.Leu333Phe) c.1360C>T (p.Leu454Phe) | gnomAD v4 |
X | g.149482769G>C | CA414517655 | IDS | c.1630C>G (p.Leu544Val) c.997C>G (p.Leu333Val) c.1360C>G (p.Leu454Val) | |
X | g.149482769G>T | CA414517656 | IDS | c.1630C>A (p.Leu544Ile) c.997C>A (p.Leu333Ile) c.1360C>A (p.Leu454Ile) | ClinVar |
X | g.149482770A= | CA2465003925 | IDS | c.1629T= (p.Asp543=) c.996T= (p.Asp332=) c.1359T= (p.Asp453=) | |
X | g.149482770A>C | CA414517657 | IDS | c.1629T>G (p.Asp543Glu) c.996T>G (p.Asp332Glu) c.1359T>G (p.Asp453Glu) | |
X | g.149482770A>G | CA10537423 | IDS | c.1629T>C (p.Asp543=) c.996T>C (p.Asp332=) c.1359T>C (p.Asp453=) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.149482770A>T | CA414517658 | IDS | c.1629T>A (p.Asp543Glu) c.996T>A (p.Asp332Glu) c.1359T>A (p.Asp453Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149482771T>A | CA414517659 | IDS | c.1628A>T (p.Asp543Val) c.995A>T (p.Asp332Val) c.1358A>T (p.Asp453Val) | |
X | g.149482771T>C | CA414517660 | IDS | c.1628A>G (p.Asp543Gly) c.995A>G (p.Asp332Gly) c.1358A>G (p.Asp453Gly) | gnomAD v4 |
X | g.149482771T>G | CA414517661 | IDS | c.1628A>C (p.Asp543Ala) c.995A>C (p.Asp332Ala) c.1358A>C (p.Asp453Ala) | |
X | g.149482772C>A | CA414517662 | IDS | c.1627G>T (p.Asp543Tyr) c.994G>T (p.Asp332Tyr) c.1357G>T (p.Asp453Tyr) | |
X | g.149482772C>G | CA414517663 | IDS | c.1627G>C (p.Asp543His) c.994G>C (p.Asp332His) c.1357G>C (p.Asp453His) | gnomAD v4 |
X | g.149482772C>T | CA414517664 | IDS | c.1627G>A (p.Asp543Asn) c.994G>A (p.Asp332Asn) c.1357G>A (p.Asp453Asn) | |
X | g.149482773T>A | CA519057378 | IDS | c.1626A>T (p.Gly542=) c.993A>T (p.Gly331=) c.1356A>T (p.Gly452=) | |
X | g.149482773T>C | CA519057379 | IDS | c.1626A>G (p.Gly542=) c.993A>G (p.Gly331=) c.1356A>G (p.Gly452=) | |
X | g.149482773T>G | CA337035519 | IDS | c.1626A>C (p.Gly542=) c.993A>C (p.Gly331=) c.1356A>C (p.Gly452=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.149482773T= | CA2465003926 | IDS | c.1626A= (p.Gly542=) c.993A= (p.Gly331=) c.1356A= (p.Gly452=) | |
X | g.149482774C>A | CA414517665 | IDS | c.1625G>T (p.Gly542Val) c.992G>T (p.Gly331Val) c.1355G>T (p.Gly452Val) | |
X | g.149482774C>G | CA414517667 | IDS | c.1625G>C (p.Gly542Ala) c.992G>C (p.Gly331Ala) c.1355G>C (p.Gly452Ala) | |
X | g.149482774C>T | CA414517666 | IDS | c.1625G>A (p.Gly542Glu) c.992G>A (p.Gly331Glu) c.1355G>A (p.Gly452Glu) | |
X | g.149482775C>A | CA414517668 | IDS | c.1624G>T (p.Gly542Ter) c.991G>T (p.Gly331Ter) c.1354G>T (p.Gly452Ter) | |
X | g.149482775C= | CA2465003927 | IDS | c.1624G= (p.Gly542=) c.991G= (p.Gly331=) c.1354G= (p.Gly452=) | |
X | g.149482775C>G | CA414517669 | IDS | c.1624G>C (p.Gly542Arg) c.991G>C (p.Gly331Arg) c.1354G>C (p.Gly452Arg) | |
X | g.149482775C>T | CA337035520 | IDS | c.1624G>A (p.Gly542Arg) c.991G>A (p.Gly331Arg) c.1354G>A (p.Gly452Arg) | dbSNP COSMIC |
X | g.149482776A= | CA2465003928 | IDS | c.1623T= (p.Gly541=) c.990T= (p.Gly330=) c.1353T= (p.Gly451=) | |
X | g.149482776A>C | CA519057380 | IDS | c.1623T>G (p.Gly541=) c.990T>G (p.Gly330=) c.1353T>G (p.Gly451=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.149482776A>G | CA519057382 | IDS | c.1623T>C (p.Gly541=) c.990T>C (p.Gly330=) c.1353T>C (p.Gly451=) | |
X | g.149482776A>T | CA519057381 | IDS | c.1623T>A (p.Gly541=) c.990T>A (p.Gly330=) c.1353T>A (p.Gly451=) | |
X | g.149482777C>A | CA414517670 | IDS | c.1622G>T (p.Gly541Val) c.989G>T (p.Gly330Val) c.1352G>T (p.Gly451Val) | |
X | g.149482777C= | CA2465003929 | IDS | c.1622G= (p.Gly541=) c.989G= (p.Gly330=) c.1352G= (p.Gly451=) | |
X | g.149482777C>G | CA414517671 | IDS | c.1622G>C (p.Gly541Ala) c.989G>C (p.Gly330Ala) c.1352G>C (p.Gly451Ala) | |
X | g.149482777C>T | CA10537424 | IDS | c.1622G>A (p.Gly541Asp) c.989G>A (p.Gly330Asp) c.1352G>A (p.Gly451Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149482778C>A | CA10537425 | IDS | c.1621G>T (p.Gly541Cys) c.988G>T (p.Gly330Cys) c.1351G>T (p.Gly451Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149482778C= | CA2465003930 | IDS | c.1621G= (p.Gly541=) c.988G= (p.Gly330=) c.1351G= (p.Gly451=) | |
X | g.149482778C>G | CA414517672 | IDS | c.1621G>C (p.Gly541Arg) c.988G>C (p.Gly330Arg) c.1351G>C (p.Gly451Arg) | |
X | g.149482778C>T | CA414517673 | IDS | c.1621G>A (p.Gly541Ser) c.988G>A (p.Gly330Ser) c.1351G>A (p.Gly451Ser) | |
X | g.149482779T>A | CA414517674 | IDS | c.1620A>T (p.Gln540His) c.987A>T (p.Gln329His) c.1350A>T (p.Gln450His) | |
X | g.149482779T>C | CA519057383 | IDS | c.1620A>G (p.Gln540=) c.987A>G (p.Gln329=) c.1350A>G (p.Gln450=) | |
X | g.149482779T>G | CA414517675 | IDS | c.1620A>C (p.Gln540His) c.987A>C (p.Gln329His) c.1350A>C (p.Gln450His) | |
X | g.149482780dup | CA2824136035 | IDS | c.1620dup (p.Gly541ArgfsTer21) c.987dup (p.Gly330ArgfsTer21) c.1350dup (p.Gly451ArgfsTer21) | |
X | g.149482780T>A | CA414517676 | IDS | c.1619A>T (p.Gln540Leu) c.986A>T (p.Gln329Leu) c.1349A>T (p.Gln450Leu) | |
X | g.149482780T>C | CA414517677 | IDS | c.1619A>G (p.Gln540Arg) c.986A>G (p.Gln329Arg) c.1349A>G (p.Gln450Arg) | |
X | g.149482780T>G | CA414517678 | IDS | c.1619A>C (p.Gln540Pro) c.986A>C (p.Gln329Pro) c.1349A>C (p.Gln450Pro) | |
X | g.149482781G>A | CA414517681 | IDS | c.1618C>T (p.Gln540Ter) c.985C>T (p.Gln329Ter) c.1348C>T (p.Gln450Ter) | gnomAD v4 |
X | g.149482781G>C | CA414517680 | IDS | c.1618C>G (p.Gln540Glu) c.985C>G (p.Gln329Glu) c.1348C>G (p.Gln450Glu) | |
X | g.149482781G>T | CA414517679 | IDS | c.1618C>A (p.Gln540Lys) c.985C>A (p.Gln329Lys) c.1348C>A (p.Gln450Lys) | gnomAD v4 |
X | g.149482782G>A | CA10537426 | IDS | c.1617C>T (p.Ser539=) c.984C>T (p.Ser328=) c.1347C>T (p.Ser449=) | ClinVar dbSNP ExAC gnomAD v4 |
X | g.149482782G>C | CA519057385 | IDS | c.1617C>G (p.Ser539=) c.984C>G (p.Ser328=) c.1347C>G (p.Ser449=) | |
X | g.149482782G= | CA2465003931 | IDS | c.1617C= (p.Ser539=) c.984C= (p.Ser328=) c.1347C= (p.Ser449=) | |
X | g.149482782G>T | CA519057384 | IDS | c.1617C>A (p.Ser539=) c.984C>A (p.Ser328=) c.1347C>A (p.Ser449=) | |
X | g.149482783G>A | CA414517682 | IDS | c.1616C>T (p.Ser539Phe) c.983C>T (p.Ser328Phe) c.1346C>T (p.Ser449Phe) | gnomAD v4 |
X | g.149482783G>C | CA10537427 | IDS | c.1616C>G (p.Ser539Cys) c.983C>G (p.Ser328Cys) c.1346C>G (p.Ser449Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149482783G= | CA2465003932 | IDS | c.1616C= (p.Ser539=) c.983C= (p.Ser328=) c.1346C= (p.Ser449=) | |
X | g.149482783G>T | CA414517683 | IDS | c.1616C>A (p.Ser539Tyr) c.983C>A (p.Ser328Tyr) c.1346C>A (p.Ser449Tyr) | |
X | g.149482784A= | CA2465003933 | IDS | c.1615T= (p.Ser539=) c.982T= (p.Ser328=) c.1345T= (p.Ser449=) | |
X | g.149482784A>C | CA414517684 | IDS | c.1615T>G (p.Ser539Ala) c.982T>G (p.Ser328Ala) c.1345T>G (p.Ser449Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149482784A>G | CA414517685 | IDS | c.1615T>C (p.Ser539Pro) c.982T>C (p.Ser328Pro) c.1345T>C (p.Ser449Pro) | |
X | g.149482784A>T | CA414517686 | IDS | c.1615T>A (p.Ser539Thr) c.982T>A (p.Ser328Thr) c.1345T>A (p.Ser449Thr) | |
X | g.149482785A>C | CA414517687 | IDS | c.1614T>G (p.Asp538Glu) c.981T>G (p.Asp327Glu) c.1344T>G (p.Asp448Glu) | |
X | g.149482785A>G | CA519057386 | IDS | c.1614T>C (p.Asp538=) c.981T>C (p.Asp327=) c.1344T>C (p.Asp448=) | |
X | g.149482785A>T | CA414517688 | IDS | c.1614T>A (p.Asp538Glu) c.981T>A (p.Asp327Glu) c.1344T>A (p.Asp448Glu) | |
X | g.149482786T>A | CA414517689 | IDS | c.1613A>T (p.Asp538Val) c.980A>T (p.Asp327Val) c.1343A>T (p.Asp448Val) | |
X | g.149482786T>C | CA414517690 | IDS | c.1613A>G (p.Asp538Gly) c.980A>G (p.Asp327Gly) c.1343A>G (p.Asp448Gly) | |
X | g.149482786T>G | CA414517691 | IDS | c.1613A>C (p.Asp538Ala) c.980A>C (p.Asp327Ala) c.1343A>C (p.Asp448Ala) | |
X | g.149482787C>A | CA414517694 | IDS | c.1612G>T (p.Asp538Tyr) c.979G>T (p.Asp327Tyr) c.1342G>T (p.Asp448Tyr) | |
X | g.149482787C>G | CA414517693 | IDS | c.1612G>C (p.Asp538His) c.979G>C (p.Asp327His) c.1342G>C (p.Asp448His) | gnomAD v4 |
X | g.149482787C>T | CA414517692 | IDS | c.1612G>A (p.Asp538Asn) c.979G>A (p.Asp327Asn) c.1342G>A (p.Asp448Asn) | |
X | g.149482788del | CA2695236475 | IDS | c.1611del (p.Asn537LysfsTer12) c.978del (p.Asn326LysfsTer12) c.1341del (p.Asn447LysfsTer12) | |
X | g.149482788A>C | CA414517695 | IDS | c.1611T>G (p.Asn537Lys) c.978T>G (p.Asn326Lys) c.1341T>G (p.Asn447Lys) | |
X | g.149482788A>G | CA519057387 | IDS | c.1611T>C (p.Asn537=) c.978T>C (p.Asn326=) c.1341T>C (p.Asn447=) | |
X | g.149482788A>T | CA414517696 | IDS | c.1611T>A (p.Asn537Lys) c.978T>A (p.Asn326Lys) c.1341T>A (p.Asn447Lys) | |
X | g.149482789T>A | CA414517697 | IDS | c.1610A>T (p.Asn537Ile) c.977A>T (p.Asn326Ile) c.1340A>T (p.Asn447Ile) | |
X | g.149482789T>C | CA414517698 | IDS | c.1610A>G (p.Asn537Ser) c.977A>G (p.Asn326Ser) c.1340A>G (p.Asn447Ser) | ClinVar dbSNP |
X | g.149482789T>G | CA414517699 | IDS | c.1610A>C (p.Asn537Thr) c.977A>C (p.Asn326Thr) c.1340A>C (p.Asn447Thr) | |
X | g.149482789T= | CA2465003934 | IDS | c.1610A= (p.Asn537=) c.977A= (p.Asn326=) c.1340A= (p.Asn447=) | |
X | g.149482790T>A | CA414517700 | IDS | c.1609A>T (p.Asn537Tyr) c.976A>T (p.Asn326Tyr) c.1339A>T (p.Asn447Tyr) | |
X | g.149482790T>C | CA414517701 | IDS | c.1609A>G (p.Asn537Asp) c.976A>G (p.Asn326Asp) c.1339A>G (p.Asn447Asp) | |
X | g.149482790T>G | CA414517702 | IDS | c.1609A>C (p.Asn537His) c.976A>C (p.Asn326His) c.1339A>C (p.Asn447His) | |
X | g.149482792_149482793del | CA2830782871 | IDS | c.1608_1609del (p.Tyr536Ter) c.975_976del (p.Tyr325Ter) c.1338_1339del (p.Tyr446Ter) | |
X | g.149482791A= | CA2465003935 | IDS | c.1608T= (p.Tyr536=) c.975T= (p.Tyr325=) c.1338T= (p.Tyr446=) | |
X | g.149482791A>C | CA414517703 | IDS | c.1608T>G (p.Tyr536Ter) c.975T>G (p.Tyr325Ter) c.1338T>G (p.Tyr446Ter) | |
X | g.149482791A>G | CA519057388 | IDS | c.1608T>C (p.Tyr536=) c.975T>C (p.Tyr325=) c.1338T>C (p.Tyr446=) | ClinVar dbSNP |
X | g.149482791A>T | CA414517704 | IDS | c.1608T>A (p.Tyr536Ter) c.975T>A (p.Tyr325Ter) c.1338T>A (p.Tyr446Ter) | |
X | g.149482792T>A | CA414517705 | IDS | c.1607A>T (p.Tyr536Phe) c.974A>T (p.Tyr325Phe) c.1337A>T (p.Tyr446Phe) | |
X | g.149482792T>C | CA414517706 | IDS | c.1607A>G (p.Tyr536Cys) c.974A>G (p.Tyr325Cys) c.1337A>G (p.Tyr446Cys) | |
X | g.149482792T>G | CA414517707 | IDS | c.1607A>C (p.Tyr536Ser) c.974A>C (p.Tyr325Ser) c.1337A>C (p.Tyr446Ser) | |
X | g.149482793A>C | CA414517710 | IDS | c.1606T>G (p.Tyr536Asp) c.973T>G (p.Tyr325Asp) c.1336T>G (p.Tyr446Asp) | |
X | g.149482793A>G | CA414517708 | IDS | c.1606T>C (p.Tyr536His) c.973T>C (p.Tyr325His) c.1336T>C (p.Tyr446His) | |
X | g.149482793A>T | CA414517709 | IDS | c.1606T>A (p.Tyr536Asn) c.973T>A (p.Tyr325Asn) c.1336T>A (p.Tyr446Asn) | |
X | g.149482794C>A | CA414517711 | IDS | c.1605G>T (p.Met535Ile) c.972G>T (p.Met324Ile) c.1335G>T (p.Met445Ile) | |
X | g.149482794C>G | CA414517712 | IDS | c.1605G>C (p.Met535Ile) c.972G>C (p.Met324Ile) c.1335G>C (p.Met445Ile) | |
X | g.149482794C>T | CA414517713 | IDS | c.1605G>A (p.Met535Ile) c.972G>A (p.Met324Ile) c.1335G>A (p.Met445Ile) | |
X | g.149482795A= | CA2465003936 | IDS | c.1604T= (p.Met535=) c.971T= (p.Met324=) c.1334T= (p.Met445=) | |
X | g.149482795A>C | CA414517714 | IDS | c.1604T>G (p.Met535Arg) c.971T>G (p.Met324Arg) c.1334T>G (p.Met445Arg) | |
X | g.149482795A>G | CA10537428 | IDS | c.1604T>C (p.Met535Thr) c.971T>C (p.Met324Thr) c.1334T>C (p.Met445Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149482795A>T | CA10537429 | IDS | c.1604T>A (p.Met535Lys) c.971T>A (p.Met324Lys) c.1334T>A (p.Met445Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149482796T>A | CA414517715 | IDS | c.1603A>T (p.Met535Leu) c.970A>T (p.Met324Leu) c.1333A>T (p.Met445Leu) | |
X | g.149482796T>C | CA414517716 | IDS | c.1603A>G (p.Met535Val) c.970A>G (p.Met324Val) c.1333A>G (p.Met445Val) | |
X | g.149482796T>G | CA414517717 | IDS | c.1603A>C (p.Met535Leu) c.970A>C (p.Met324Leu) c.1333A>C (p.Met445Leu) | |
X | g.149482797A>C | CA414517718 | IDS | c.1602T>G (p.Asn534Lys) c.969T>G (p.Asn323Lys) c.1332T>G (p.Asn444Lys) | |
X | g.149482797A>G | CA519057389 | IDS | c.1602T>C (p.Asn534=) c.969T>C (p.Asn323=) c.1332T>C (p.Asn444=) | |
X | g.149482797A>T | CA414517719 | IDS | c.1602T>A (p.Asn534Lys) c.969T>A (p.Asn323Lys) c.1332T>A (p.Asn444Lys) | |
X | g.149482798T>A | CA414517720 | IDS | c.1601A>T (p.Asn534Ile) c.968A>T (p.Asn323Ile) c.1331A>T (p.Asn444Ile) | |
X | g.149482798T>C | CA414517722 | IDS | c.1601A>G (p.Asn534Ser) c.968A>G (p.Asn323Ser) c.1331A>G (p.Asn444Ser) | |
X | g.149482798T>G | CA414517721 | IDS | c.1601A>C (p.Asn534Thr) c.968A>C (p.Asn323Thr) c.1331A>C (p.Asn444Thr) | |
X | g.149482799T>A | CA414517723 | IDS | c.1600A>T (p.Asn534Tyr) c.967A>T (p.Asn323Tyr) c.1330A>T (p.Asn444Tyr) | |
X | g.149482799T>C | CA414517725 | IDS | c.1600A>G (p.Asn534Asp) c.967A>G (p.Asn323Asp) c.1330A>G (p.Asn444Asp) | |
X | g.149482799T>G | CA414517724 | IDS | c.1600A>C (p.Asn534His) c.967A>C (p.Asn323His) c.1330A>C (p.Asn444His) | |
X | g.149482800G>A | CA519057390 | IDS | c.1599C>T (p.His533=) c.966C>T (p.His322=) c.1329C>T (p.His443=) | |
X | g.149482800G>C | CA414517726 | IDS | c.1599C>G (p.His533Gln) c.966C>G (p.His322Gln) c.1329C>G (p.His443Gln) | |
X | g.149482800G>T | CA414517727 | IDS | c.1599C>A (p.His533Gln) c.966C>A (p.His322Gln) c.1329C>A (p.His443Gln) | |
X | g.149482801T>A | CA414517728 | IDS | c.1598A>T (p.His533Leu) c.965A>T (p.His322Leu) c.1328A>T (p.His443Leu) | ClinVar dbSNP |
X | g.149482801T>C | CA414517729 | IDS | c.1598A>G (p.His533Arg) c.965A>G (p.His322Arg) c.1328A>G (p.His443Arg) | |
X | g.149482801T>G | CA414517730 | IDS | c.1598A>C (p.His533Pro) c.965A>C (p.His322Pro) c.1328A>C (p.His443Pro) | |
X | g.149482801T= | CA2465003937 | IDS | c.1598A= (p.His533=) c.965A= (p.His322=) c.1328A= (p.His443=) | |
X | g.149482802G>A | CA414517731 | IDS | c.1597C>T (p.His533Tyr) c.964C>T (p.His322Tyr) c.1327C>T (p.His443Tyr) | |
X | g.149482802G>C | CA414517732 | IDS | c.1597C>G (p.His533Asp) c.964C>G (p.His322Asp) c.1327C>G (p.His443Asp) | |
X | g.149482802G>T | CA414517733 | IDS | c.1597C>A (p.His533Asn) c.964C>A (p.His322Asn) c.1327C>A (p.His443Asn) | |
X | g.149482803A= | CA2465003938 | IDS | c.1596T= (p.Asp532=) c.963T= (p.Asp321=) c.1326T= (p.Asp442=) | |
X | g.149482803A>C | CA414517734 | IDS | c.1596T>G (p.Asp532Glu) c.963T>G (p.Asp321Glu) c.1326T>G (p.Asp442Glu) | |
X | g.149482803A>G | CA519057391 | IDS | c.1596T>C (p.Asp532=) c.963T>C (p.Asp321=) c.1326T>C (p.Asp442=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149482803A>T | CA414517735 | IDS | c.1596T>A (p.Asp532Glu) c.963T>A (p.Asp321Glu) c.1326T>A (p.Asp442Glu) | |
X | g.149482804T>A | CA10537430 | IDS | c.1595A>T (p.Asp532Val) c.962A>T (p.Asp321Val) c.1325A>T (p.Asp442Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149482804T>C | CA414517736 | IDS | c.1595A>G (p.Asp532Gly) c.962A>G (p.Asp321Gly) c.1325A>G (p.Asp442Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149482804T>G | CA414517737 | IDS | c.1595A>C (p.Asp532Ala) c.962A>C (p.Asp321Ala) c.1325A>C (p.Asp442Ala) | |
X | g.149482804T= | CA2465003939 | IDS | c.1595A= (p.Asp532=) c.962A= (p.Asp321=) c.1325A= (p.Asp442=) | |
X | g.149482805C>A | CA414517740 | IDS | c.1594G>T (p.Asp532Tyr) c.961G>T (p.Asp321Tyr) c.1324G>T (p.Asp442Tyr) | |
X | g.149482805C= | CA2465003940 | IDS | c.1594G= (p.Asp532=) c.961G= (p.Asp321=) c.1324G= (p.Asp442=) | |
X | g.149482805C>G | CA414517738 | IDS | c.1594G>C (p.Asp532His) c.961G>C (p.Asp321His) c.1324G>C (p.Asp442His) | |
X | g.149482805C>T | CA414517739 | IDS | c.1594G>A (p.Asp532Asn) c.961G>A (p.Asp321Asn) c.1324G>A (p.Asp442Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149482806C>A | CA414517741 | IDS | c.1593G>T (p.Gln531His) c.960G>T (p.Gln320His) c.1323G>T (p.Gln441His) | |
X | g.149482806C>G | CA414517742 | IDS | c.1593G>C (p.Gln531His) c.960G>C (p.Gln320His) c.1323G>C (p.Gln441His) | |
X | g.149482806C>T | CA519057393 | IDS | c.1593G>A (p.Gln531=) c.960G>A (p.Gln320=) c.1323G>A (p.Gln441=) | |
X | g.149482807T>A | CA414517743 | IDS | c.1592A>T (p.Gln531Leu) c.959A>T (p.Gln320Leu) c.1322A>T (p.Gln441Leu) | |
X | g.149482807T>C | CA414517744 | IDS | c.1592A>G (p.Gln531Arg) c.959A>G (p.Gln320Arg) c.1322A>G (p.Gln441Arg) | |
X | g.149482807T>G | CA414517745 | IDS | c.1592A>C (p.Gln531Pro) c.959A>C (p.Gln320Pro) c.1322A>C (p.Gln441Pro) | gnomAD v4 |
X | g.149482808G>A | CA10604994 | IDS | c.1591C>T (p.Gln531Ter) c.958C>T (p.Gln320Ter) c.1321C>T (p.Gln441Ter) | ClinVar dbSNP |
X | g.149482808G>C | CA414517746 | IDS | c.1591C>G (p.Gln531Glu) c.958C>G (p.Gln320Glu) c.1321C>G (p.Gln441Glu) | |
X | g.149482808G= | CA2465003941 | IDS | c.1591C= (p.Gln531=) c.958C= (p.Gln320=) c.1321C= (p.Gln441=) | |
X | g.149482808G>T | CA414517747 | IDS | c.1591C>A (p.Gln531Lys) c.958C>A (p.Gln320Lys) c.1321C>A (p.Gln441Lys) | |
X | g.149482809C>A | CA414517748 | IDS | c.1590G>T (p.Leu530Phe) c.957G>T (p.Leu319Phe) c.1320G>T (p.Leu440Phe) | |
X | g.149482809C>G | CA414517749 | IDS | c.1590G>C (p.Leu530Phe) c.957G>C (p.Leu319Phe) c.1320G>C (p.Leu440Phe) | |
X | g.149482809C>T | CA519057394 | IDS | c.1590G>A (p.Leu530=) c.957G>A (p.Leu319=) c.1320G>A (p.Leu440=) | |
X | g.149482810A>C | CA414517751 | IDS | c.1589T>G (p.Leu530Trp) c.956T>G (p.Leu319Trp) c.1319T>G (p.Leu440Trp) | gnomAD v4 |
X | g.149482810A>G | CA414517752 | IDS | c.1589T>C (p.Leu530Ser) c.956T>C (p.Leu319Ser) c.1319T>C (p.Leu440Ser) | |
X | g.149482810A>T | CA414517750 | IDS | c.1589T>A (p.Leu530Ter) c.956T>A (p.Leu319Ter) c.1319T>A (p.Leu440Ter) | ClinVar dbSNP |
X | g.149482811dup | CA2573159286 | IDS | c.1589dup (p.Leu530PhefsTer8) c.956dup (p.Leu319PhefsTer8) c.1319dup (p.Leu440PhefsTer8) | ClinVar dbSNP |
X | g.149482811A= | CA2465003942 | IDS | c.1588T= (p.Leu530=) c.955T= (p.Leu319=) c.1318T= (p.Leu440=) | |
X | g.149482811A>C | CA414517753 | IDS | c.1588T>G (p.Leu530Val) c.955T>G (p.Leu319Val) c.1318T>G (p.Leu440Val) | |
X | g.149482811A>G | CA519057396 | IDS | c.1588T>C (p.Leu530=) c.955T>C (p.Leu319=) c.1318T>C (p.Leu440=) | ClinVar dbSNP gnomAD v4 |
X | g.149482811A>T | CA414517754 | IDS | c.1588T>A (p.Leu530Met) c.955T>A (p.Leu319Met) c.1318T>A (p.Leu440Met) | gnomAD v4 |
X | g.149482812del | CA2695236476 | IDS | c.1587del (p.Leu530CysfsTer19) c.954del (p.Leu319CysfsTer19) c.1317del (p.Leu440CysfsTer19) | |
X | g.149482812T>A | CA519057399 | IDS | c.1587A>T (p.Pro529=) c.954A>T (p.Pro318=) c.1317A>T (p.Pro439=) | |
X | g.149482812T>C | CA519057397 | IDS | c.1587A>G (p.Pro529=) c.954A>G (p.Pro318=) c.1317A>G (p.Pro439=) | ClinVar dbSNP gnomAD v4 |
X | g.149482812T>G | CA519057398 | IDS | c.1587A>C (p.Pro529=) c.954A>C (p.Pro318=) c.1317A>C (p.Pro439=) | |
X | g.149482812T= | CA2465003943 | IDS | c.1587A= (p.Pro529=) c.954A= (p.Pro318=) c.1317A= (p.Pro439=) | |
X | g.149482813G>A | CA414517755 | IDS | c.1586C>T (p.Pro529Leu) c.953C>T (p.Pro318Leu) c.1316C>T (p.Pro439Leu) | |
X | g.149482813G>C | CA414517756 | IDS | c.1586C>G (p.Pro529Arg) c.953C>G (p.Pro318Arg) c.1316C>G (p.Pro439Arg) | |
X | g.149482813G>T | CA414517757 | IDS | c.1586C>A (p.Pro529Gln) c.953C>A (p.Pro318Gln) c.1316C>A (p.Pro439Gln) | |
X | g.149482814G>A | CA414517760 | IDS | c.1585C>T (p.Pro529Ser) c.952C>T (p.Pro318Ser) c.1315C>T (p.Pro439Ser) | dbSNP |
X | g.149482814G>C | CA414517758 | IDS | c.1585C>G (p.Pro529Ala) c.952C>G (p.Pro318Ala) c.1315C>G (p.Pro439Ala) | |
X | g.149482814G= | CA2465003944 | IDS | c.1585C= (p.Pro529=) c.952C= (p.Pro318=) c.1315C= (p.Pro439=) | |
X | g.149482814G>T | CA414517759 | IDS | c.1585C>A (p.Pro529Thr) c.952C>A (p.Pro318Thr) c.1315C>A (p.Pro439Thr) | |
X | g.149482815G>A | CA519057400 | IDS | c.1584C>T (p.Asp528=) c.951C>T (p.Asp317=) c.1314C>T (p.Asp438=) | ClinVar dbSNP gnomAD v4 |
X | g.149482815G>C | CA414517761 | IDS | c.1584C>G (p.Asp528Glu) c.951C>G (p.Asp317Glu) c.1314C>G (p.Asp438Glu) | |
X | g.149482815G>T | CA414517763 | IDS | c.1584C>A (p.Asp528Glu) c.951C>A (p.Asp317Glu) c.1314C>A (p.Asp438Glu) | |
X | g.149482816T>A | CA414517764 | IDS | c.1583A>T (p.Asp528Val) c.950A>T (p.Asp317Val) c.1313A>T (p.Asp438Val) | |
X | g.149482816T>C | CA414517765 | IDS | c.1583A>G (p.Asp528Gly) c.950A>G (p.Asp317Gly) c.1313A>G (p.Asp438Gly) | |
X | g.149482816T>G | CA414517766 | IDS | c.1583A>C (p.Asp528Ala) c.950A>C (p.Asp317Ala) c.1313A>C (p.Asp438Ala) | |
X | g.149482817C>A | CA414517767 | IDS | c.1582G>T (p.Asp528Tyr) c.949G>T (p.Asp317Tyr) c.1312G>T (p.Asp438Tyr) | |
X | g.149482817C>G | CA414517769 | IDS | c.1582G>C (p.Asp528His) c.949G>C (p.Asp317His) c.1312G>C (p.Asp438His) | |
X | g.149482817C>T | CA414517768 | IDS | c.1582G>A (p.Asp528Asn) c.949G>A (p.Asp317Asn) c.1312G>A (p.Asp438Asn) | |
X | g.149482818A>C | CA519057401 | IDS | c.1581T>G (p.Ser527=) c.948T>G (p.Ser316=) c.1311T>G (p.Ser437=) | |
X | g.149482818A>G | CA519057402 | IDS | c.1581T>C (p.Ser527=) c.948T>C (p.Ser316=) c.1311T>C (p.Ser437=) | |
X | g.149482818A>T | CA519057403 | IDS | c.1581T>A (p.Ser527=) c.948T>A (p.Ser316=) c.1311T>A (p.Ser437=) | |
X | g.149482819_149482832dup | CA2695236477 | IDS | c.1568_1581dup (p.Asp528IlefsTer26) c.935_948dup (p.Asp317IlefsTer26) c.1298_1311dup (p.Asp438IlefsTer26) | |
X | g.149482819G>A | CA414517770 | IDS | c.1580C>T (p.Ser527Phe) c.947C>T (p.Ser316Phe) c.1310C>T (p.Ser437Phe) | gnomAD v4 |
X | g.149482819G>C | CA414517771 | IDS | c.1580C>G (p.Ser527Cys) c.947C>G (p.Ser316Cys) c.1310C>G (p.Ser437Cys) | |
X | g.149482819G>T | CA414517772 | IDS | c.1580C>A (p.Ser527Tyr) c.947C>A (p.Ser316Tyr) c.1310C>A (p.Ser437Tyr) | |
X | g.149482820A>C | CA414517773 | IDS | c.1579T>G (p.Ser527Ala) c.946T>G (p.Ser316Ala) c.1309T>G (p.Ser437Ala) | |
X | g.149482820A>G | CA414517774 | IDS | c.1579T>C (p.Ser527Pro) c.946T>C (p.Ser316Pro) c.1309T>C (p.Ser437Pro) | |
X | g.149482820A>T | CA414517775 | IDS | c.1579T>A (p.Ser527Thr) c.946T>A (p.Ser316Thr) c.1309T>A (p.Ser437Thr) | |
X | g.149482821A>C | CA414517776 | IDS | c.1578T>G (p.Asp526Glu) c.945T>G (p.Asp315Glu) c.1308T>G (p.Asp436Glu) | |
X | g.149482821A>G | CA519057404 | IDS | c.1578T>C (p.Asp526=) c.945T>C (p.Asp315=) c.1308T>C (p.Asp436=) | |
X | g.149482821A>T | CA414517777 | IDS | c.1578T>A (p.Asp526Glu) c.945T>A (p.Asp315Glu) c.1308T>A (p.Asp436Glu) | |
X | g.149482822T>A | CA414517778 | IDS | c.1577A>T (p.Asp526Val) c.944A>T (p.Asp315Val) c.1307A>T (p.Asp436Val) | |
X | g.149482822T>C | CA414517779 | IDS | c.1577A>G (p.Asp526Gly) c.944A>G (p.Asp315Gly) c.1307A>G (p.Asp436Gly) | |
X | g.149482822T>G | CA414517780 | IDS | c.1577A>C (p.Asp526Ala) c.944A>C (p.Asp315Ala) c.1307A>C (p.Asp436Ala) | |
X | g.149482823C>A | CA10537431 | IDS | c.1576G>T (p.Asp526Tyr) c.943G>T (p.Asp315Tyr) c.1306G>T (p.Asp436Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149482823C= | CA2465003945 | IDS | c.1576G= (p.Asp526=) c.943G= (p.Asp315=) c.1306G= (p.Asp436=) | |
X | g.149482823C>G | CA414517782 | IDS | c.1576G>C (p.Asp526His) c.943G>C (p.Asp315His) c.1306G>C (p.Asp436His) | |
X | g.149482823C>T | CA414517781 | IDS | c.1576G>A (p.Asp526Asn) c.943G>A (p.Asp315Asn) c.1306G>A (p.Asp436Asn) | COSMIC |
X | g.149482824del | CA2695236478 | IDS | c.1576del (p.Asp526IlefsTer23) c.943del (p.Asp315IlefsTer23) c.1306del (p.Asp436IlefsTer23) | |
X | g.149482824C>A | CA519057405 | IDS | c.1575G>T (p.Val525=) c.942G>T (p.Val314=) c.1305G>T (p.Val435=) | |
X | g.149482824C>G | CA519057406 | IDS | c.1575G>C (p.Val525=) c.942G>C (p.Val314=) c.1305G>C (p.Val435=) | |
X | g.149482824C>T | CA519057407 | IDS | c.1575G>A (p.Val525=) c.942G>A (p.Val314=) c.1305G>A (p.Val435=) | |
X | g.149482825A>C | CA414517785 | IDS | c.1574T>G (p.Val525Gly) c.941T>G (p.Val314Gly) c.1304T>G (p.Val435Gly) | |
X | g.149482825A>G | CA414517783 | IDS | c.1574T>C (p.Val525Ala) c.941T>C (p.Val314Ala) c.1304T>C (p.Val435Ala) | |
X | g.149482825A>T | CA414517784 | IDS | c.1574T>A (p.Val525Glu) c.941T>A (p.Val314Glu) c.1304T>A (p.Val435Glu) | |
X | g.149482826C>A | CA414517786 | IDS | c.1573G>T (p.Val525Leu) c.940G>T (p.Val314Leu) c.1303G>T (p.Val435Leu) | |
X | g.149482826C>G | CA414517787 | IDS | c.1573G>C (p.Val525Leu) c.940G>C (p.Val314Leu) c.1303G>C (p.Val435Leu) | |
X | g.149482826C>T | CA414517788 | IDS | c.1573G>A (p.Val525Met) c.940G>A (p.Val314Met) c.1303G>A (p.Val435Met) | |
X | g.149482827A>C | CA414517789 | IDS | c.1572T>G (p.Phe524Leu) c.939T>G (p.Phe313Leu) c.1302T>G (p.Phe434Leu) | |
X | g.149482827A>G | CA519057408 | IDS | c.1572T>C (p.Phe524=) c.939T>C (p.Phe313=) c.1302T>C (p.Phe434=) | |
X | g.149482827A>T | CA414517790 | IDS | c.1572T>A (p.Phe524Leu) c.939T>A (p.Phe313Leu) c.1302T>A (p.Phe434Leu) | |
X | g.149482828A= | CA2465003946 | IDS | c.1571T= (p.Phe524=) c.938T= (p.Phe313=) c.1301T= (p.Phe434=) | |
X | g.149482828A>C | CA414517791 | IDS | c.1571T>G (p.Phe524Cys) c.938T>G (p.Phe313Cys) c.1301T>G (p.Phe434Cys) | |
X | g.149482828A>G | CA414517792 | IDS | c.1571T>C (p.Phe524Ser) c.938T>C (p.Phe313Ser) c.1301T>C (p.Phe434Ser) | |
X | g.149482828A>T | CA337035521 | IDS | c.1571T>A (p.Phe524Tyr) c.938T>A (p.Phe313Tyr) c.1301T>A (p.Phe434Tyr) | dbSNP |
X | g.149482829A>C | CA414517793 | IDS | c.1570T>G (p.Phe524Val) c.937T>G (p.Phe313Val) c.1300T>G (p.Phe434Val) | |
X | g.149482829A>G | CA414517794 | IDS | c.1570T>C (p.Phe524Leu) c.937T>C (p.Phe313Leu) c.1300T>C (p.Phe434Leu) | |
X | g.149482829A>T | CA414517795 | IDS | c.1570T>A (p.Phe524Ile) c.937T>A (p.Phe313Ile) c.1300T>A (p.Phe434Ile) | |
X | g.149482830A>C | CA414517797 | IDS | c.1569T>G (p.Tyr523Ter) c.936T>G (p.Tyr312Ter) c.1299T>G (p.Tyr433Ter) | |
X | g.149482830A>G | CA519057409 | IDS | c.1569T>C (p.Tyr523=) c.936T>C (p.Tyr312=) c.1299T>C (p.Tyr433=) | |
X | g.149482830A>T | CA414517796 | IDS | c.1569T>A (p.Tyr523Ter) c.936T>A (p.Tyr312Ter) c.1299T>A (p.Tyr433Ter) | |
X | g.149482831T>A | CA414517798 | IDS | c.1568A>T (p.Tyr523Phe) c.935A>T (p.Tyr312Phe) c.1298A>T (p.Tyr433Phe) | |
X | g.149482831T>C | CA414517799 | IDS | c.1568A>G (p.Tyr523Cys) c.935A>G (p.Tyr312Cys) c.1298A>G (p.Tyr433Cys) | ClinVar dbSNP |
X | g.149482831T>G | CA414517800 | IDS | c.1568A>C (p.Tyr523Ser) c.935A>C (p.Tyr312Ser) c.1298A>C (p.Tyr433Ser) | |
X | g.149482831T= | CA2465003947 | IDS | c.1568A= (p.Tyr523=) c.935A= (p.Tyr312=) c.1298A= (p.Tyr433=) | |
X | g.149482832A>C | CA414517801 | IDS | c.1567T>G (p.Tyr523Asp) c.934T>G (p.Tyr312Asp) c.1297T>G (p.Tyr433Asp) | |
X | g.149482832A>G | CA414517802 | IDS | c.1567T>C (p.Tyr523His) c.934T>C (p.Tyr312His) c.1297T>C (p.Tyr433His) | |
X | g.149482832A>T | CA414517803 | IDS | c.1567T>A (p.Tyr523Asn) c.934T>A (p.Tyr312Asn) c.1297T>A (p.Tyr433Asn) | |
X | g.149482832dup | CA2695236479 | IDS | c.1567dup (p.Tyr523LeufsTer6) c.934dup (p.Tyr312LeufsTer6) c.1297dup (p.Tyr433LeufsTer6) | |
X | g.149482833C>A | CA519057414 | IDS | c.1566G>T (p.Leu522=) c.933G>T (p.Leu311=) c.1296G>T (p.Leu432=) | |
X | g.149482833C>G | CA519057413 | IDS | c.1566G>C (p.Leu522=) c.933G>C (p.Leu311=) c.1296G>C (p.Leu432=) | |
X | g.149482833C>T | CA519057411 | IDS | c.1566G>A (p.Leu522=) c.933G>A (p.Leu311=) c.1296G>A (p.Leu432=) | gnomAD v4 |
X | g.149482834A>C | CA414517804 | IDS | c.1565T>G (p.Leu522Arg) c.932T>G (p.Leu311Arg) c.1295T>G (p.Leu432Arg) | |
X | g.149482834A>G | CA414517805 | IDS | c.1565T>C (p.Leu522Pro) c.932T>C (p.Leu311Pro) c.1295T>C (p.Leu432Pro) | |
X | g.149482834A>T | CA414517806 | IDS | c.1565T>A (p.Leu522Gln) c.932T>A (p.Leu311Gln) c.1295T>A (p.Leu432Gln) | |
X | g.149482835G>A | CA519057415 | IDS | c.1564C>T (p.Leu522=) c.931C>T (p.Leu311=) c.1294C>T (p.Leu432=) | ClinVar dbSNP gnomAD v4 |
X | g.149482835G>C | CA414517807 | IDS | c.1564C>G (p.Leu522Val) c.931C>G (p.Leu311Val) c.1294C>G (p.Leu432Val) | gnomAD v4 |
X | g.149482835G>T | CA414517808 | IDS | c.1564C>A (p.Leu522Met) c.931C>A (p.Leu311Met) c.1294C>A (p.Leu432Met) | |
X | g.149482836T>A | CA414517809 | IDS | c.1563A>T (p.Glu521Asp) c.930A>T (p.Glu310Asp) c.1293A>T (p.Glu431Asp) | ClinVar dbSNP |
X | g.149482836T>C | CA519057416 | IDS | c.1563A>G (p.Glu521=) c.930A>G (p.Glu310=) c.1293A>G (p.Glu431=) | |
X | g.149482836T>G | CA414517810 | IDS | c.1563A>C (p.Glu521Asp) c.930A>C (p.Glu310Asp) c.1293A>C (p.Glu431Asp) | |
X | g.149482836T= | CA2465003948 | IDS | c.1563A= (p.Glu521=) c.930A= (p.Glu310=) c.1293A= (p.Glu431=) | |
X | g.149482837del | CA2695236480 | IDS | c.1563del (p.Glu521AspfsTer28) c.930del (p.Glu310AspfsTer28) c.1293del (p.Glu431AspfsTer28) | |
X | g.149482837T>A | CA414517813 | IDS | c.1562A>T (p.Glu521Val) c.929A>T (p.Glu310Val) c.1292A>T (p.Glu431Val) | |
X | g.149482837T>C | CA414517812 | IDS | c.1562A>G (p.Glu521Gly) c.929A>G (p.Glu310Gly) c.1292A>G (p.Glu431Gly) | |
X | g.149482837T>G | CA414517811 | IDS | c.1562A>C (p.Glu521Ala) c.929A>C (p.Glu310Ala) c.1292A>C (p.Glu431Ala) | |
X | g.149482838C>A | CA414517814 | IDS | c.1561G>T (p.Glu521Ter) c.928G>T (p.Glu310Ter) c.1291G>T (p.Glu431Ter) | |
X | g.149482838C>G | CA414517815 | IDS | c.1561G>C (p.Glu521Gln) c.928G>C (p.Glu310Gln) c.1291G>C (p.Glu431Gln) | |
X | g.149482838C>T | CA414517816 | IDS | c.1561G>A (p.Glu521Lys) c.928G>A (p.Glu310Lys) c.1291G>A (p.Glu431Lys) | ClinVar dbSNP COSMIC |
X | g.149482841dup | CA2573159287 | IDS | c.1561dup (p.Glu521GlyfsTer8) c.928dup (p.Glu310GlyfsTer8) c.1291dup (p.Glu431GlyfsTer8) | ClinVar dbSNP |
X | g.149482841del | CA2739289610 | IDS | c.1561del (p.Glu521AsnfsTer28) c.928del (p.Glu310AsnfsTer28) c.1291del (p.Glu431AsnfsTer28) | |
X | g.149482839C>A | CA519057417 | IDS | c.1560G>T (p.Gly520=) c.927G>T (p.Gly309=) c.1290G>T (p.Gly430=) | |
X | g.149482839C= | CA2465003949 | IDS | c.1560G= (p.Gly520=) c.927G= (p.Gly309=) c.1290G= (p.Gly430=) | |
X | g.149482839C>G | CA519057418 | IDS | c.1560G>C (p.Gly520=) c.927G>C (p.Gly309=) c.1290G>C (p.Gly430=) | |
X | g.149482839C>T | CA10537432 | IDS | c.1560G>A (p.Gly520=) c.927G>A (p.Gly309=) c.1290G>A (p.Gly430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149482840C>A | CA414517817 | IDS | c.1559G>T (p.Gly520Val) c.926G>T (p.Gly309Val) c.1289G>T (p.Gly430Val) | |
X | g.149482840C>G | CA414517818 | IDS | c.1559G>C (p.Gly520Ala) c.926G>C (p.Gly309Ala) c.1289G>C (p.Gly430Ala) | |
X | g.149482840C>T | CA414517819 | IDS | c.1559G>A (p.Gly520Glu) c.926G>A (p.Gly309Glu) c.1289G>A (p.Gly430Glu) | |
X | g.149482841C>A | CA414517820 | IDS | c.1558G>T (p.Gly520Trp) c.925G>T (p.Gly309Trp) c.1288G>T (p.Gly430Trp) | |
X | g.149482841C>G | CA414517821 | IDS | c.1558G>C (p.Gly520Arg) c.925G>C (p.Gly309Arg) c.1288G>C (p.Gly430Arg) | |
X | g.149482841C>T | CA414517822 | IDS | c.1558G>A (p.Gly520Arg) c.925G>A (p.Gly309Arg) c.1288G>A (p.Gly430Arg) | |
X | g.149482842T>A | CA519057419 | IDS | c.1557A>T (p.Ala519=) c.924A>T (p.Ala308=) c.1287A>T (p.Ala429=) | |
X | g.149482842T>C | CA519057420 | IDS | c.1557A>G (p.Ala519=) c.924A>G (p.Ala308=) c.1287A>G (p.Ala429=) | |
X | g.149482842T>G | CA519057421 | IDS | c.1557A>C (p.Ala519=) c.924A>C (p.Ala308=) c.1287A>C (p.Ala429=) | |
X | g.149482843G>A | CA414517823 | IDS | c.1556C>T (p.Ala519Val) c.923C>T (p.Ala308Val) c.1286C>T (p.Ala429Val) | |
X | g.149482843G>C | CA414517824 | IDS | c.1556C>G (p.Ala519Gly) c.923C>G (p.Ala308Gly) c.1286C>G (p.Ala429Gly) | |
X | g.149482843G>T | CA414517825 | IDS | c.1556C>A (p.Ala519Glu) c.923C>A (p.Ala308Glu) c.1286C>A (p.Ala429Glu) | |
X | g.149482844C>A | CA414517828 | IDS | c.1555G>T (p.Ala519Ser) c.922G>T (p.Ala308Ser) c.1285G>T (p.Ala429Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149482844C= | CA2465003950 | IDS | c.1555G= (p.Ala519=) c.922G= (p.Ala308=) c.1285G= (p.Ala429=) | |
X | g.149482844C>G | CA414517826 | IDS | c.1555G>C (p.Ala519Pro) c.922G>C (p.Ala308Pro) c.1285G>C (p.Ala429Pro) | |
X | g.149482844C>T | CA414517827 | IDS | c.1555G>A (p.Ala519Thr) c.922G>A (p.Ala308Thr) c.1285G>A (p.Ala429Thr) | |
X | g.149482845A>C | CA414517829 | IDS | c.1554T>G (p.His518Gln) c.921T>G (p.His307Gln) c.1284T>G (p.His428Gln) | |
X | g.149482845A>G | CA519057423 | IDS | c.1554T>C (p.His518=) c.921T>C (p.His307=) c.1284T>C (p.His428=) | |
X | g.149482845A>T | CA414517830 | IDS | c.1554T>A (p.His518Gln) c.921T>A (p.His307Gln) c.1284T>A (p.His428Gln) | |
X | g.149482846T>A | CA414517832 | IDS | c.1553A>T (p.His518Leu) c.920A>T (p.His307Leu) c.1283A>T (p.His428Leu) | |
X | g.149482846T>C | CA414517834 | IDS | c.1553A>G (p.His518Arg) c.920A>G (p.His307Arg) c.1283A>G (p.His428Arg) | |
X | g.149482846T>G | CA414517835 | IDS | c.1553A>C (p.His518Pro) c.920A>C (p.His307Pro) c.1283A>C (p.His428Pro) | |
X | g.149482847G>A | CA414517836 | IDS | c.1552C>T (p.His518Tyr) c.919C>T (p.His307Tyr) c.1282C>T (p.His428Tyr) | |
X | g.149482847G>C | CA10537433 | IDS | c.1552C>G (p.His518Asp) c.919C>G (p.His307Asp) c.1282C>G (p.His428Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149482847G= | CA2465003951 | IDS | c.1552C= (p.His518=) c.919C= (p.His307=) c.1282C= (p.His428=) | |
X | g.149482847G>T | CA414517837 | IDS | c.1552C>A (p.His518Asn) c.919C>A (p.His307Asn) c.1282C>A (p.His428Asn) | |
X | g.149482848G>A | CA519057426 | IDS | c.1551C>T (p.Ile517=) c.918C>T (p.Ile306=) c.1281C>T (p.Ile427=) | |
X | g.149482848G>C | CA414517838 | IDS | c.1551C>G (p.Ile517Met) c.918C>G (p.Ile306Met) c.1281C>G (p.Ile427Met) | |
X | g.149482848G>T | CA519057424 | IDS | c.1551C>A (p.Ile517=) c.918C>A (p.Ile306=) c.1281C>A (p.Ile427=) | |
X | g.149482849A>C | CA414517839 | IDS | c.1550T>G (p.Ile517Ser) c.917T>G (p.Ile306Ser) c.1280T>G (p.Ile427Ser) | |
X | g.149482849A>G | CA414517840 | IDS | c.1550T>C (p.Ile517Thr) c.917T>C (p.Ile306Thr) c.1280T>C (p.Ile427Thr) | |
X | g.149482849A>T | CA414517841 | IDS | c.1550T>A (p.Ile517Asn) c.917T>A (p.Ile306Asn) c.1280T>A (p.Ile427Asn) | |
X | g.149482850T>A | CA414517844 | IDS | c.1549A>T (p.Ile517Phe) c.916A>T (p.Ile306Phe) c.1279A>T (p.Ile427Phe) | |
X | g.149482850T>C | CA414517843 | IDS | c.1549A>G (p.Ile517Val) c.916A>G (p.Ile306Val) c.1279A>G (p.Ile427Val) | dbSNP |
X | g.149482850T>G | CA414517842 | IDS | c.1549A>C (p.Ile517Leu) c.916A>C (p.Ile306Leu) c.1279A>C (p.Ile427Leu) | |
X | g.149482850T= | CA2465003952 | IDS | c.1549A= (p.Ile517=) c.916A= (p.Ile306=) c.1279A= (p.Ile427=) | |
X | g.149482851G>A | CA10537434 | IDS | c.1548C>T (p.Asp516=) c.915C>T (p.Asp305=) c.1278C>T (p.Asp426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149482851G>C | CA414517846 | IDS | c.1548C>G (p.Asp516Glu) c.915C>G (p.Asp305Glu) c.1278C>G (p.Asp426Glu) | |
X | g.149482851G= | CA2465003953 | IDS | c.1548C= (p.Asp516=) c.915C= (p.Asp305=) c.1278C= (p.Asp426=) | |
X | g.149482851G>T | CA414517845 | IDS | c.1548C>A (p.Asp516Glu) c.915C>A (p.Asp305Glu) c.1278C>A (p.Asp426Glu) | |
X | g.149482852T>A | CA414517847 | IDS | c.1547A>T (p.Asp516Val) c.914A>T (p.Asp305Val) c.1277A>T (p.Asp426Val) | |
X | g.149482852T>C | CA414517849 | IDS | c.1547A>G (p.Asp516Gly) c.914A>G (p.Asp305Gly) c.1277A>G (p.Asp426Gly) | |
X | g.149482852T>G | CA414517848 | IDS | c.1547A>C (p.Asp516Ala) c.914A>C (p.Asp305Ala) c.1277A>C (p.Asp426Ala) | |
X | g.149482853C>A | CA414517850 | IDS | c.1546G>T (p.Asp516Tyr) c.913G>T (p.Asp305Tyr) c.1276G>T (p.Asp426Tyr) | |
X | g.149482853C>G | CA414517852 | IDS | c.1546G>C (p.Asp516His) c.913G>C (p.Asp305His) c.1276G>C (p.Asp426His) | |
X | g.149482853C>T | CA414517851 | IDS | c.1546G>A (p.Asp516Asn) c.913G>A (p.Asp305Asn) c.1276G>A (p.Asp426Asn) | |
X | g.149482854A>C | CA519057427 | IDS | c.1545T>G (p.Ser515=) c.912T>G (p.Ser304=) c.1275T>G (p.Ser425=) | |
X | g.149482854A>G | CA519057428 | IDS | c.1545T>C (p.Ser515=) c.912T>C (p.Ser304=) c.1275T>C (p.Ser425=) | |
X | g.149482854A>T | CA519057429 | IDS | c.1545T>A (p.Ser515=) c.912T>A (p.Ser304=) c.1275T>A (p.Ser425=) | |
X | g.149482855G>A | CA414517853 | IDS | c.1544C>T (p.Ser515Phe) c.911C>T (p.Ser304Phe) c.1274C>T (p.Ser425Phe) | |
X | g.149482855G>C | CA414517854 | IDS | c.1544C>G (p.Ser515Cys) c.911C>G (p.Ser304Cys) c.1274C>G (p.Ser425Cys) | |
X | g.149482855G>T | CA414517855 | IDS | c.1544C>A (p.Ser515Tyr) c.911C>A (p.Ser304Tyr) c.1274C>A (p.Ser425Tyr) | gnomAD v4 |
X | g.149482856A>C | CA414517856 | IDS | c.1543T>G (p.Ser515Ala) c.910T>G (p.Ser304Ala) c.1273T>G (p.Ser425Ala) | |
X | g.149482856A>G | CA414517857 | IDS | c.1543T>C (p.Ser515Pro) c.910T>C (p.Ser304Pro) c.1273T>C (p.Ser425Pro) | |
X | g.149482856A>T | CA414517858 | IDS | c.1543T>A (p.Ser515Thr) c.910T>A (p.Ser304Thr) c.1273T>A (p.Ser425Thr) | |
X | g.149482857A>C | CA414517859 | IDS | c.1542T>G (p.Phe514Leu) c.909T>G (p.Phe303Leu) c.1272T>G (p.Phe424Leu) | |
X | g.149482857A>G | CA519057430 | IDS | c.1542T>C (p.Phe514=) c.909T>C (p.Phe303=) c.1272T>C (p.Phe424=) | |
X | g.149482857A>T | CA414517860 | IDS | c.1542T>A (p.Phe514Leu) c.909T>A (p.Phe303Leu) c.1272T>A (p.Phe424Leu) | |
X | g.149482858A>C | CA414517861 | IDS | c.1541T>G (p.Phe514Cys) c.908T>G (p.Phe303Cys) c.1271T>G (p.Phe424Cys) | |
X | g.149482858A>G | CA414517862 | IDS | c.1541T>C (p.Phe514Ser) c.908T>C (p.Phe303Ser) c.1271T>C (p.Phe424Ser) | |
X | g.149482858A>T | CA414517863 | IDS | c.1541T>A (p.Phe514Tyr) c.908T>A (p.Phe303Tyr) c.1271T>A (p.Phe424Tyr) | |
X | g.149482859A= | CA2465003954 | IDS | c.1540T= (p.Phe514=) c.907T= (p.Phe303=) c.1270T= (p.Phe424=) | |
X | g.149482859A>C | CA414517864 | IDS | c.1540T>G (p.Phe514Val) c.907T>G (p.Phe303Val) c.1270T>G (p.Phe424Val) | |
X | g.149482859A>G | CA414517866 | IDS | c.1540T>C (p.Phe514Leu) c.907T>C (p.Phe303Leu) c.1270T>C (p.Phe424Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149482859A>T | CA414517865 | IDS | c.1540T>A (p.Phe514Ile) c.907T>A (p.Phe303Ile) c.1270T>A (p.Phe424Ile) | gnomAD v4 |
X | g.149482860G>A | CA519057431 | IDS | c.1539C>T (p.Asn513=) c.906C>T (p.Asn302=) c.1269C>T (p.Asn423=) | ClinVar gnomAD v4 |
X | g.149482860G>C | CA414517867 | IDS | c.1539C>G (p.Asn513Lys) c.906C>G (p.Asn302Lys) c.1269C>G (p.Asn423Lys) | |
X | g.149482860G= | CA2465003955 | IDS | c.1539C= (p.Asn513=) c.906C= (p.Asn302=) c.1269C= (p.Asn423=) | |
X | g.149482860G>T | CA414517868 | IDS | c.1539C>A (p.Asn513Lys) c.906C>A (p.Asn302Lys) c.1269C>A (p.Asn423Lys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149482861T>A | CA414517869 | IDS | c.1538A>T (p.Asn513Ile) c.905A>T (p.Asn302Ile) c.1268A>T (p.Asn423Ile) | |
X | g.149482861T>C | CA414517870 | IDS | c.1538A>G (p.Asn513Ser) c.905A>G (p.Asn302Ser) c.1268A>G (p.Asn423Ser) | |
X | g.149482861T>G | CA414517871 | IDS | c.1538A>C (p.Asn513Thr) c.905A>C (p.Asn302Thr) c.1268A>C (p.Asn423Thr) | COSMIC |