Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133775559C>A | CA354610467 | TF | c.1814C>A (p.Ala605Asp) c.545C>A n.2808C>A c.1682C>A (p.Ala561Asp) c.1433C>A (p.Ala478Asp) | COSMIC |
3 | g.133775559C>G | CA354610466 | TF | c.1814C>G (p.Ala605Gly) c.545C>G n.2808C>G c.1682C>G (p.Ala561Gly) c.1433C>G (p.Ala478Gly) | |
3 | g.133775559C>T | CA354610465 | TF | c.1814C>T (p.Ala605Val) c.545C>T n.2808C>T c.1682C>T (p.Ala561Val) c.1433C>T (p.Ala478Val) | |
3 | g.133775560T>A | CA435815861 | TF | c.1815T>A (p.Ala605=) c.546T>A n.2809T>A c.1683T>A (p.Ala561=) c.1434T>A (p.Ala478=) | |
3 | g.133775560T>C | CA435815863 | TF | c.1815T>C (p.Ala605=) c.546T>C n.2809T>C c.1683T>C (p.Ala561=) c.1434T>C (p.Ala478=) | |
3 | g.133775560T>G | CA435815862 | TF | c.1815T>G (p.Ala605=) c.546T>G n.2809T>G c.1683T>G (p.Ala561=) c.1434T>G (p.Ala478=) | |
3 | g.133775561G>A | CA354610468 | TF | c.1816G>A (p.Val606Met) c.547G>A n.2810G>A c.1684G>A (p.Val562Met) c.1435G>A (p.Val479Met) | |
3 | g.133775561G>C | CA354610469 | TF | c.1816G>C (p.Val606Leu) c.547G>C n.2810G>C c.1684G>C (p.Val562Leu) c.1435G>C (p.Val479Leu) | |
3 | g.133775561G>T | CA354610470 | TF | c.1816G>T (p.Val606Leu) c.547G>T n.2810G>T c.1684G>T (p.Val562Leu) c.1435G>T (p.Val479Leu) | |
3 | g.133775562T>A | CA354610471 | TF | c.1817T>A (p.Val606Glu) c.548T>A n.2811T>A c.1685T>A (p.Val562Glu) c.1436T>A (p.Val479Glu) | |
3 | g.133775562T>C | CA354610472 | TF | c.1817T>C (p.Val606Ala) c.548T>C n.2811T>C c.1685T>C (p.Val562Ala) c.1436T>C (p.Val479Ala) | dbSNP gnomAD v4 |
3 | g.133775562T>G | CA354610473 | TF | c.1817T>G (p.Val606Gly) c.548T>G n.2811T>G c.1685T>G (p.Val562Gly) c.1436T>G (p.Val479Gly) | |
3 | g.133775563G>A | CA435815864 | TF | c.1818G>A (p.Val606=) c.549G>A n.2812G>A c.1686G>A (p.Val562=) c.1437G>A (p.Val479=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775563G>C | CA435815865 | TF | c.1818G>C (p.Val606=) c.549G>C n.2812G>C c.1686G>C (p.Val562=) c.1437G>C (p.Val479=) | |
3 | g.133775563G= | CA1403122857 | TF | c.1818G= (p.Val606=) c.549G= n.2812G= c.1686G= (p.Val562=) c.1437G= (p.Val479=) | |
3 | g.133775563G>T | CA435815866 | TF | c.1818G>T (p.Val606=) c.549G>T n.2812G>T c.1686G>T (p.Val562=) c.1437G>T (p.Val479=) | |
3 | g.133775564G>A | CA354610474 | TF | c.1819G>A (p.Val607Ile) c.550G>A n.2813G>A c.1687G>A (p.Val563Ile) c.1438G>A (p.Val480Ile) | |
3 | g.133775564G>C | CA354610476 | TF | c.1819G>C (p.Val607Leu) c.550G>C n.2813G>C c.1687G>C (p.Val563Leu) c.1438G>C (p.Val480Leu) | gnomAD v4 |
3 | g.133775564G>T | CA354610475 | TF | c.1819G>T (p.Val607Phe) c.550G>T n.2813G>T c.1687G>T (p.Val563Phe) c.1438G>T (p.Val480Phe) | |
3 | g.133775565T>A | CA354610477 | TF | c.1820T>A (p.Val607Asp) c.551T>A n.2814T>A c.1688T>A (p.Val563Asp) c.1439T>A (p.Val480Asp) | |
3 | g.133775565T>C | CA354610478 | TF | c.1820T>C (p.Val607Ala) c.551T>C n.2814T>C c.1688T>C (p.Val563Ala) c.1439T>C (p.Val480Ala) | |
3 | g.133775565T>G | CA354610479 | TF | c.1820T>G (p.Val607Gly) c.551T>G n.2814T>G c.1688T>G (p.Val563Gly) c.1439T>G (p.Val480Gly) | |
3 | g.133775566C>A | CA2625418 | TF | c.1821C>A (p.Val607=) c.552C>A n.2815C>A c.1689C>A (p.Val563=) c.1440C>A (p.Val480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775566C= | CA1403122872 | TF | c.1821C= (p.Val607=) c.552C= n.2815C= c.1689C= (p.Val563=) c.1440C= (p.Val480=) | |
3 | g.133775566C>G | CA435815867 | TF | c.1821C>G (p.Val607=) c.552C>G n.2815C>G c.1689C>G (p.Val563=) c.1440C>G (p.Val480=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775566C>T | CA435815868 | TF | c.1821C>T (p.Val607=) c.552C>T n.2815C>T c.1689C>T (p.Val563=) c.1440C>T (p.Val480=) | |
3 | g.133775567A>C | CA354610480 | TF | c.1822A>C (p.Thr608Pro) c.553A>C n.2816A>C c.1690A>C (p.Thr564Pro) c.1441A>C (p.Thr481Pro) | |
3 | g.133775567A>G | CA354610481 | TF | c.1822A>G (p.Thr608Ala) c.553A>G n.2816A>G c.1690A>G (p.Thr564Ala) c.1441A>G (p.Thr481Ala) | |
3 | g.133775567A>T | CA354610482 | TF | c.1822A>T (p.Thr608Ser) c.553A>T n.2816A>T c.1690A>T (p.Thr564Ser) c.1441A>T (p.Thr481Ser) | |
3 | g.133775568C>A | CA354610483 | TF | c.1823C>A (p.Thr608Lys) c.554C>A n.2817C>A c.1691C>A (p.Thr564Lys) c.1442C>A (p.Thr481Lys) | |
3 | g.133775568C>G | CA354610484 | TF | c.1823C>G (p.Thr608Arg) c.554C>G n.2817C>G c.1691C>G (p.Thr564Arg) c.1442C>G (p.Thr481Arg) | |
3 | g.133775568C>T | CA354610485 | TF | c.1823C>T (p.Thr608Ile) c.554C>T n.2817C>T c.1691C>T (p.Thr564Ile) c.1442C>T (p.Thr481Ile) | |
3 | g.133775569A>C | CA435815869 | TF | c.1824A>C (p.Thr608=) c.555A>C n.2818A>C c.1692A>C (p.Thr564=) c.1443A>C (p.Thr481=) | |
3 | g.133775569A>G | CA435815870 | TF | c.1824A>G (p.Thr608=) c.555A>G n.2818A>G c.1692A>G (p.Thr564=) c.1443A>G (p.Thr481=) | |
3 | g.133775569A>T | CA435815871 | TF | c.1824A>T (p.Thr608=) c.555A>T n.2818A>T c.1692A>T (p.Thr564=) c.1443A>T (p.Thr481=) | |
3 | g.133775570C>A | CA2625419 | TF | c.1825C>A (p.Arg609=) c.556C>A n.2819C>A c.1693C>A (p.Arg565=) c.1444C>A (p.Arg482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775570C= | CA1403122884 | TF | c.1825C= (p.Arg609=) c.556C= n.2819C= c.1693C= (p.Arg565=) c.1444C= (p.Arg482=) | |
3 | g.133775570C>G | CA354610486 | TF | c.1825C>G (p.Arg609Gly) c.556C>G n.2819C>G c.1693C>G (p.Arg565Gly) c.1444C>G (p.Arg482Gly) | |
3 | g.133775570C>T | CA211198 | TF | c.1825C>T (p.Arg609Trp) c.556C>T n.2819C>T c.1693C>T (p.Arg565Trp) c.1444C>T (p.Arg482Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775571G>A | CA354610487 | TF | c.1826G>A (p.Arg609Gln) c.557G>A n.2820G>A c.1694G>A (p.Arg565Gln) c.1445G>A (p.Arg482Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775571G>C | CA354610488 | TF | c.1826G>C (p.Arg609Pro) c.557G>C n.2820G>C c.1694G>C (p.Arg565Pro) c.1445G>C (p.Arg482Pro) | |
3 | g.133775571G= | CA1403122896 | TF | c.1826G= (p.Arg609=) c.557G= n.2820G= c.1694G= (p.Arg565=) c.1445G= (p.Arg482=) | |
3 | g.133775571G>T | CA354610489 | TF | c.1826G>T (p.Arg609Leu) c.557G>T n.2820G>T c.1694G>T (p.Arg565Leu) c.1445G>T (p.Arg482Leu) | |
3 | g.133775572G>A | CA83693015 | TF | c.1827G>A (p.Arg609=) c.558G>A n.2821G>A c.1695G>A (p.Arg565=) c.1446G>A (p.Arg482=) | dbSNP |
3 | g.133775572G>C | CA435815872 | TF | c.1827G>C (p.Arg609=) c.558G>C n.2821G>C c.1695G>C (p.Arg565=) c.1446G>C (p.Arg482=) | |
3 | g.133775572G= | CA1403122902 | TF | c.1827G= (p.Arg609=) c.558G= n.2821G= c.1695G= (p.Arg565=) c.1446G= (p.Arg482=) | |
3 | g.133775572G>T | CA435815873 | TF | c.1827G>T (p.Arg609=) c.558G>T n.2821G>T c.1695G>T (p.Arg565=) c.1446G>T (p.Arg482=) | |
3 | g.133775573A>C | CA354610490 | TF | c.1828A>C (p.Lys610Gln) c.559A>C n.2822A>C c.1696A>C (p.Lys566Gln) c.1447A>C (p.Lys483Gln) | |
3 | g.133775573A>G | CA354610491 | TF | c.1828A>G (p.Lys610Glu) c.559A>G n.2822A>G c.1696A>G (p.Lys566Glu) c.1447A>G (p.Lys483Glu) | gnomAD v4 |
3 | g.133775573A>T | CA354610492 | TF | c.1828A>T (p.Lys610Ter) c.559A>T n.2822A>T c.1696A>T (p.Lys566Ter) c.1447A>T (p.Lys483Ter) | |
3 | g.133775574A>C | CA354610493 | TF | c.1829A>C (p.Lys610Thr) c.560A>C n.2823A>C c.1697A>C (p.Lys566Thr) c.1448A>C (p.Lys483Thr) | |
3 | g.133775574A>G | CA354610494 | TF | c.1829A>G (p.Lys610Arg) c.560A>G n.2823A>G c.1697A>G (p.Lys566Arg) c.1448A>G (p.Lys483Arg) | |
3 | g.133775574A>T | CA354610495 | TF | c.1829A>T (p.Lys610Ile) c.560A>T n.2823A>T c.1697A>T (p.Lys566Ile) c.1448A>T (p.Lys483Ile) | |
3 | g.133775575A= | CA1403122905 | TF | c.1830A= (p.Lys610=) c.561A= n.2824A= c.1698A= (p.Lys566=) c.1449A= (p.Lys483=) | |
3 | g.133775575A>C | CA354610496 | TF | c.1830A>C (p.Lys610Asn) c.561A>C n.2824A>C c.1698A>C (p.Lys566Asn) c.1449A>C (p.Lys483Asn) | |
3 | g.133775575A>G | CA2625420 | TF | c.1830A>G (p.Lys610=) c.561A>G n.2824A>G c.1698A>G (p.Lys566=) c.1449A>G (p.Lys483=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775575A>T | CA354610497 | TF | c.1830A>T (p.Lys610Asn) c.561A>T n.2824A>T c.1698A>T (p.Lys566Asn) c.1449A>T (p.Lys483Asn) | |
3 | g.133775576G>A | CA354610499 | TF | c.1831G>A (p.Asp611Asn) c.562G>A n.2825G>A c.1699G>A (p.Asp567Asn) c.1450G>A (p.Asp484Asn) | dbSNP |
3 | g.133775576G>C | CA354610500 | TF | c.1831G>C (p.Asp611His) c.562G>C n.2825G>C c.1699G>C (p.Asp567His) c.1450G>C (p.Asp484His) | |
3 | g.133775576G= | CA1403122909 | TF | c.1831G= (p.Asp611=) c.562G= n.2825G= c.1699G= (p.Asp567=) c.1450G= (p.Asp484=) | |
3 | g.133775576G>T | CA354610498 | TF | c.1831G>T (p.Asp611Tyr) c.562G>T n.2825G>T c.1699G>T (p.Asp567Tyr) c.1450G>T (p.Asp484Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775577A>C | CA354610501 | TF | c.1832A>C (p.Asp611Ala) c.563A>C n.2826A>C c.1700A>C (p.Asp567Ala) c.1451A>C (p.Asp484Ala) | |
3 | g.133775577A>G | CA354610502 | TF | c.1832A>G (p.Asp611Gly) c.563A>G n.2826A>G c.1700A>G (p.Asp567Gly) c.1451A>G (p.Asp484Gly) | |
3 | g.133775577A>T | CA354610503 | TF | c.1832A>T (p.Asp611Val) c.563A>T n.2826A>T c.1700A>T (p.Asp567Val) c.1451A>T (p.Asp484Val) | |
3 | g.133775578T>A | CA354610504 | TF | c.1833T>A (p.Asp611Glu) c.564T>A n.2827T>A c.1701T>A (p.Asp567Glu) c.1452T>A (p.Asp484Glu) | |
3 | g.133775578T>C | CA435815874 | TF | c.1833T>C (p.Asp611=) c.564T>C n.2827T>C c.1701T>C (p.Asp567=) c.1452T>C (p.Asp484=) | ClinVar |
3 | g.133775578T>G | CA354610505 | TF | c.1833T>G (p.Asp611Glu) c.564T>G n.2827T>G c.1701T>G (p.Asp567Glu) c.1452T>G (p.Asp484Glu) | |
3 | g.133775578_133775579delinsTA | CA1403122915 | TF | c.1833_1834delinsTA (p.Asp611=) c.564_565delinsTA n.2827_2828delinsTA c.1701_1702delinsTA (p.Asp567=) c.1452_1453delinsTA (p.Asp484=) | |
3 | g.133775579A>C | CA354610508 | TF | c.1834A>C (p.Lys612Gln) c.565A>C n.2828A>C c.1702A>C (p.Lys568Gln) c.1453A>C (p.Lys485Gln) | |
3 | g.133775579A>G | CA354610506 | TF | c.1834A>G (p.Lys612Glu) c.565A>G n.2828A>G c.1702A>G (p.Lys568Glu) c.1453A>G (p.Lys485Glu) | |
3 | g.133775579A>T | CA354610507 | TF | c.1834A>T (p.Lys612Ter) c.565A>T n.2828A>T c.1702A>T (p.Lys568Ter) c.1453A>T (p.Lys485Ter) | |
3 | g.133775580del | CA1053735593 | TF | c.1835del (p.Lys612ArgfsTer20) c.566del n.2829del c.1703del (p.Lys568ArgfsTer20) c.1454del (p.Lys485ArgfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775580A>C | CA354610509 | TF | c.1835A>C (p.Lys612Thr) c.566A>C n.2829A>C c.1703A>C (p.Lys568Thr) c.1454A>C (p.Lys485Thr) | |
3 | g.133775580A>G | CA354610510 | TF | c.1835A>G (p.Lys612Arg) c.566A>G n.2829A>G c.1703A>G (p.Lys568Arg) c.1454A>G (p.Lys485Arg) | |
3 | g.133775580A>T | CA354610511 | TF | c.1835A>T (p.Lys612Met) c.566A>T n.2829A>T c.1703A>T (p.Lys568Met) c.1454A>T (p.Lys485Met) | |
3 | g.133775581G>A | CA435815875 | TF | c.1836G>A (p.Lys612=) c.567G>A n.2830G>A c.1704G>A (p.Lys568=) c.1455G>A (p.Lys485=) | ClinVar |
3 | g.133775581G>C | CA354610512 | TF | c.1836G>C (p.Lys612Asn) c.567G>C n.2830G>C c.1704G>C (p.Lys568Asn) c.1455G>C (p.Lys485Asn) | |
3 | g.133775581G>T | CA354610513 | TF | c.1836G>T (p.Lys612Asn) c.567G>T n.2830G>T c.1704G>T (p.Lys568Asn) c.1455G>T (p.Lys485Asn) | |
3 | g.133775582G>A | CA354610516 | TF | c.1837G>A (p.Glu613Lys) c.568G>A n.2831G>A c.1705G>A (p.Glu569Lys) c.1456G>A (p.Glu486Lys) | |
3 | g.133775582G>C | CA354610515 | TF | c.1837G>C (p.Glu613Gln) c.568G>C n.2831G>C c.1705G>C (p.Glu569Gln) c.1456G>C (p.Glu486Gln) | |
3 | g.133775582G>T | CA354610514 | TF | c.1837G>T (p.Glu613Ter) c.568G>T n.2831G>T c.1705G>T (p.Glu569Ter) c.1456G>T (p.Glu486Ter) | |
3 | g.133775583A>C | CA354610517 | TF | c.1838A>C (p.Glu613Ala) c.569A>C n.2832A>C c.1706A>C (p.Glu569Ala) c.1457A>C (p.Glu486Ala) | |
3 | g.133775583A>G | CA354610519 | TF | c.1838A>G (p.Glu613Gly) c.569A>G n.2832A>G c.1706A>G (p.Glu569Gly) c.1457A>G (p.Glu486Gly) | |
3 | g.133775583A>T | CA354610518 | TF | c.1838A>T (p.Glu613Val) c.569A>T n.2832A>T c.1706A>T (p.Glu569Val) c.1457A>T (p.Glu486Val) | |
3 | g.133775584A>C | CA354610520 | TF | c.1839A>C (p.Glu613Asp) c.570A>C n.2833A>C c.1707A>C (p.Glu569Asp) c.1458A>C (p.Glu486Asp) | |
3 | g.133775584A>G | CA435815876 | TF | c.1839A>G (p.Glu613=) c.570A>G n.2833A>G c.1707A>G (p.Glu569=) c.1458A>G (p.Glu486=) | |
3 | g.133775584A>T | CA354610521 | TF | c.1839A>T (p.Glu613Asp) c.570A>T n.2833A>T c.1707A>T (p.Glu569Asp) c.1458A>T (p.Glu486Asp) | |
3 | g.133775585G>A | CA354610522 | TF | c.1840G>A (p.Ala614Thr) c.571G>A n.2834G>A c.1708G>A (p.Ala570Thr) c.1459G>A (p.Ala487Thr) | |
3 | g.133775585G>C | CA354610523 | TF | c.1840G>C (p.Ala614Pro) c.571G>C n.2834G>C c.1708G>C (p.Ala570Pro) c.1459G>C (p.Ala487Pro) | |
3 | g.133775585G>T | CA354610524 | TF | c.1840G>T (p.Ala614Ser) c.571G>T n.2834G>T c.1708G>T (p.Ala570Ser) c.1459G>T (p.Ala487Ser) | |
3 | g.133775586C>A | CA354610525 | TF | c.1841C>A (p.Ala614Asp) c.572C>A n.2835C>A c.1709C>A (p.Ala570Asp) c.1460C>A (p.Ala487Asp) | |
3 | g.133775586C= | CA1403122918 | TF | c.1841C= (p.Ala614=) c.572C= n.2835C= c.1709C= (p.Ala570=) c.1460C= (p.Ala487=) | |
3 | g.133775586C>G | CA354610526 | TF | c.1841C>G (p.Ala614Gly) c.572C>G n.2835C>G c.1709C>G (p.Ala570Gly) c.1460C>G (p.Ala487Gly) | dbSNP |
3 | g.133775586C>T | CA354610527 | TF | c.1841C>T (p.Ala614Val) c.572C>T n.2835C>T c.1709C>T (p.Ala570Val) c.1460C>T (p.Ala487Val) | dbSNP |
3 | g.133775587T>A | CA435815877 | TF | c.1842T>A (p.Ala614=) c.573T>A n.2836T>A c.1710T>A (p.Ala570=) c.1461T>A (p.Ala487=) | |
3 | g.133775587T>C | CA435815879 | TF | c.1842T>C (p.Ala614=) c.573T>C n.2836T>C c.1710T>C (p.Ala570=) c.1461T>C (p.Ala487=) | |
3 | g.133775587T>G | CA435815878 | TF | c.1842T>G (p.Ala614=) c.573T>G n.2836T>G c.1710T>G (p.Ala570=) c.1461T>G (p.Ala487=) | |
3 | g.133775588T>A | CA354610528 | TF | c.1843T>A (p.Cys615Ser) c.574T>A n.2837T>A c.1711T>A (p.Cys571Ser) c.1462T>A (p.Cys488Ser) | |
3 | g.133775588T>C | CA354610529 | TF | c.1843T>C (p.Cys615Arg) c.574T>C n.2837T>C c.1711T>C (p.Cys571Arg) c.1462T>C (p.Cys488Arg) | |
3 | g.133775588T>G | CA354610530 | TF | c.1843T>G (p.Cys615Gly) c.574T>G n.2837T>G c.1711T>G (p.Cys571Gly) c.1462T>G (p.Cys488Gly) | |
3 | g.133775589G>A | CA354610531 | TF | c.1844G>A (p.Cys615Tyr) c.575G>A n.2838G>A c.1712G>A (p.Cys571Tyr) c.1463G>A (p.Cys488Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775589G>C | CA354610532 | TF | c.1844G>C (p.Cys615Ser) c.575G>C n.2838G>C c.1712G>C (p.Cys571Ser) c.1463G>C (p.Cys488Ser) | |
3 | g.133775589G= | CA1403122921 | TF | c.1844G= (p.Cys615=) c.575G= n.2838G= c.1712G= (p.Cys571=) c.1463G= (p.Cys488=) | |
3 | g.133775589G>T | CA354610533 | TF | c.1844G>T (p.Cys615Phe) c.575G>T n.2838G>T c.1712G>T (p.Cys571Phe) c.1463G>T (p.Cys488Phe) | |
3 | g.133775590C>A | CA354610535 | TF | c.1845C>A (p.Cys615Ter) c.576C>A n.2839C>A c.1713C>A (p.Cys571Ter) c.1464C>A (p.Cys488Ter) | gnomAD v4 |
3 | g.133775590C= | CA1403122927 | TF | c.1845C= (p.Cys615=) c.576C= n.2839C= c.1713C= (p.Cys571=) c.1464C= (p.Cys488=) | |
3 | g.133775590C>G | CA354610534 | TF | c.1845C>G (p.Cys615Trp) c.576C>G n.2839C>G c.1713C>G (p.Cys571Trp) c.1464C>G (p.Cys488Trp) | |
3 | g.133775590C>T | CA2625421 | TF | c.1845C>T (p.Cys615=) c.576C>T n.2839C>T c.1713C>T (p.Cys571=) c.1464C>T (p.Cys488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775591G>A | CA83693023 | TF | c.1846G>A (p.Val616Ile) c.577G>A n.2840G>A c.1714G>A (p.Val572Ile) c.1465G>A (p.Val489Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.133775591G>C | CA354610536 | TF | c.1846G>C (p.Val616Leu) c.577G>C n.2840G>C c.1714G>C (p.Val572Leu) c.1465G>C (p.Val489Leu) | |
3 | g.133775591G= | CA1403122932 | TF | c.1846G= (p.Val616=) c.577G= n.2840G= c.1714G= (p.Val572=) c.1465G= (p.Val489=) | |
3 | g.133775591G>T | CA354610537 | TF | c.1846G>T (p.Val616Phe) c.577G>T n.2840G>T c.1714G>T (p.Val572Phe) c.1465G>T (p.Val489Phe) | dbSNP COSMIC |
3 | g.133775592T>A | CA354610538 | TF | c.1847T>A (p.Val616Asp) c.578T>A n.2841T>A c.1715T>A (p.Val572Asp) c.1466T>A (p.Val489Asp) | |
3 | g.133775592T>C | CA354610539 | TF | c.1847T>C (p.Val616Ala) c.578T>C n.2841T>C c.1715T>C (p.Val572Ala) c.1466T>C (p.Val489Ala) | |
3 | g.133775592T>G | CA354610540 | TF | c.1847T>G (p.Val616Gly) c.578T>G n.2841T>G c.1715T>G (p.Val572Gly) c.1466T>G (p.Val489Gly) | |
3 | g.133775593C>A | CA435815880 | TF | c.1848C>A (p.Val616=) c.579C>A n.2842C>A c.1716C>A (p.Val572=) c.1467C>A (p.Val489=) | |
3 | g.133775593C>G | CA435815881 | TF | c.1848C>G (p.Val616=) c.579C>G n.2842C>G c.1716C>G (p.Val572=) c.1467C>G (p.Val489=) | |
3 | g.133775593C>T | CA435815882 | TF | c.1848C>T (p.Val616=) c.579C>T n.2842C>T c.1716C>T (p.Val572=) c.1467C>T (p.Val489=) | |
3 | g.133775594C>A | CA354610541 | TF | c.1849C>A (p.His617Asn) c.580C>A n.2843C>A c.1717C>A (p.His573Asn) c.1468C>A (p.His490Asn) | |
3 | g.133775594C>G | CA354610542 | TF | c.1849C>G (p.His617Asp) c.580C>G n.2843C>G c.1717C>G (p.His573Asp) c.1468C>G (p.His490Asp) | |
3 | g.133775594C>T | CA354610543 | TF | c.1849C>T (p.His617Tyr) c.580C>T n.2843C>T c.1717C>T (p.His573Tyr) c.1468C>T (p.His490Tyr) | |
3 | g.133775595A= | CA1403122938 | TF | c.1850A= (p.His617=) c.581A= n.2844A= c.1718A= (p.His573=) c.1469A= (p.His490=) | |
3 | g.133775595A>C | CA354610544 | TF | c.1850A>C (p.His617Pro) c.581A>C n.2844A>C c.1718A>C (p.His573Pro) c.1469A>C (p.His490Pro) | |
3 | g.133775595A>G | CA354610545 | TF | c.1850A>G (p.His617Arg) c.581A>G n.2844A>G c.1718A>G (p.His573Arg) c.1469A>G (p.His490Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775595A>T | CA354610546 | TF | c.1850A>T (p.His617Leu) c.581A>T n.2844A>T c.1718A>T (p.His573Leu) c.1469A>T (p.His490Leu) | |
3 | g.133775596C>A | CA354610547 | TF | c.1851C>A (p.His617Gln) c.582C>A n.2845C>A c.1719C>A (p.His573Gln) c.1470C>A (p.His490Gln) | |
3 | g.133775596C>G | CA354610548 | TF | c.1851C>G (p.His617Gln) c.582C>G n.2845C>G c.1719C>G (p.His573Gln) c.1470C>G (p.His490Gln) | |
3 | g.133775596C>T | CA435815883 | TF | c.1851C>T (p.His617=) c.582C>T n.2845C>T c.1719C>T (p.His573=) c.1470C>T (p.His490=) | |
3 | g.133775597A>C | CA354610549 | TF | c.1852A>C (p.Lys618Gln) c.583A>C n.2846A>C c.1720A>C (p.Lys574Gln) c.1471A>C (p.Lys491Gln) | |
3 | g.133775597A>G | CA354610550 | TF | c.1852A>G (p.Lys618Glu) c.583A>G n.2846A>G c.1720A>G (p.Lys574Glu) c.1471A>G (p.Lys491Glu) | |
3 | g.133775597A>T | CA354610551 | TF | c.1852A>T (p.Lys618Ter) c.583A>T n.2846A>T c.1720A>T (p.Lys574Ter) c.1471A>T (p.Lys491Ter) | |
3 | g.133775598A>C | CA354610552 | TF | c.1853A>C (p.Lys618Thr) c.584A>C n.2847A>C c.1721A>C (p.Lys574Thr) c.1472A>C (p.Lys491Thr) | |
3 | g.133775598A>G | CA354610553 | TF | c.1853A>G (p.Lys618Arg) c.584A>G n.2847A>G c.1721A>G (p.Lys574Arg) c.1472A>G (p.Lys491Arg) | |
3 | g.133775598A>T | CA354610554 | TF | c.1853A>T (p.Lys618Met) c.584A>T n.2847A>T c.1721A>T (p.Lys574Met) c.1472A>T (p.Lys491Met) | |
3 | g.133775599G>A | CA435815884 | TF | c.1854G>A (p.Lys618=) c.585G>A n.2848G>A c.1722G>A (p.Lys574=) c.1473G>A (p.Lys491=) | |
3 | g.133775599G>C | CA354610555 | TF | c.1854G>C (p.Lys618Asn) c.585G>C n.2848G>C c.1722G>C (p.Lys574Asn) c.1473G>C (p.Lys491Asn) | |
3 | g.133775599G>T | CA354610556 | TF | c.1854G>T (p.Lys618Asn) c.585G>T n.2848G>T c.1722G>T (p.Lys574Asn) c.1473G>T (p.Lys491Asn) | |
3 | g.133775600A>C | CA354610557 | TF | c.1855A>C (p.Ile619Leu) c.586A>C n.2849A>C c.1723A>C (p.Ile575Leu) c.1474A>C (p.Ile492Leu) | |
3 | g.133775600A>G | CA354610558 | TF | c.1855A>G (p.Ile619Val) c.586A>G n.2849A>G c.1723A>G (p.Ile575Val) c.1474A>G (p.Ile492Val) | gnomAD v4 COSMIC |
3 | g.133775600A>T | CA354610559 | TF | c.1855A>T (p.Ile619Leu) c.586A>T n.2849A>T c.1723A>T (p.Ile575Leu) c.1474A>T (p.Ile492Leu) | |
3 | g.133775601T>A | CA354610562 | TF | c.1856T>A (p.Ile619Lys) c.587T>A n.2850T>A c.1724T>A (p.Ile575Lys) c.1475T>A (p.Ile492Lys) | |
3 | g.133775601T>C | CA354610561 | TF | c.1856T>C (p.Ile619Thr) c.587T>C n.2850T>C c.1724T>C (p.Ile575Thr) c.1475T>C (p.Ile492Thr) | |
3 | g.133775601T>G | CA354610560 | TF | c.1856T>G (p.Ile619Arg) c.587T>G n.2850T>G c.1724T>G (p.Ile575Arg) c.1475T>G (p.Ile492Arg) | |
3 | g.133775602A= | CA1403122942 | TF | c.1857A= (p.Ile619=) c.588A= n.2851A= c.1725A= (p.Ile575=) c.1476A= (p.Ile492=) | |
3 | g.133775602A>C | CA435815885 | TF | c.1857A>C (p.Ile619=) c.588A>C n.2851A>C c.1725A>C (p.Ile575=) c.1476A>C (p.Ile492=) | |
3 | g.133775602A>G | CA354610563 | TF | c.1857A>G (p.Ile619Met) c.588A>G n.2851A>G c.1725A>G (p.Ile575Met) c.1476A>G (p.Ile492Met) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775602A>T | CA2625422 | TF | c.1857A>T (p.Ile619=) c.588A>T n.2851A>T c.1725A>T (p.Ile575=) c.1476A>T (p.Ile492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775603T>A | CA354610564 | TF | c.1858T>A (p.Leu620Ile) c.589T>A n.2852T>A c.1726T>A (p.Leu576Ile) c.1477T>A (p.Leu493Ile) | |
3 | g.133775603T>C | CA435815886 | TF | c.1858T>C (p.Leu620=) c.589T>C n.2852T>C c.1726T>C (p.Leu576=) c.1477T>C (p.Leu493=) | ClinVar gnomAD v4 |
3 | g.133775603T>G | CA354610565 | TF | c.1858T>G (p.Leu620Val) c.589T>G n.2852T>G c.1726T>G (p.Leu576Val) c.1477T>G (p.Leu493Val) | |
3 | g.133775604T>A | CA354610566 | TF | c.1859T>A (p.Leu620Ter) c.590T>A n.2853T>A c.1727T>A (p.Leu576Ter) c.1478T>A (p.Leu493Ter) | |
3 | g.133775604T>C | CA354610567 | TF | c.1859T>C (p.Leu620Ser) c.590T>C n.2853T>C c.1727T>C (p.Leu576Ser) c.1478T>C (p.Leu493Ser) | |
3 | g.133775604T>G | CA354610568 | TF | c.1859T>G (p.Leu620Ter) c.590T>G n.2853T>G c.1727T>G (p.Leu576Ter) c.1478T>G (p.Leu493Ter) | |
3 | g.133775605A= | CA1403122947 | TF | c.1860A= (p.Leu620=) c.591A= n.2854A= c.1728A= (p.Leu576=) c.1479A= (p.Leu493=) | |
3 | g.133775605A>C | CA83693027 | TF | c.1860A>C (p.Leu620Phe) c.591A>C n.2854A>C c.1728A>C (p.Leu576Phe) c.1479A>C (p.Leu493Phe) | dbSNP |
3 | g.133775605A>G | CA435815887 | TF | c.1860A>G (p.Leu620=) c.591A>G n.2854A>G c.1728A>G (p.Leu576=) c.1479A>G (p.Leu493=) | |
3 | g.133775605A>T | CA354610569 | TF | c.1860A>T (p.Leu620Phe) c.591A>T n.2854A>T c.1728A>T (p.Leu576Phe) c.1479A>T (p.Leu493Phe) | |
3 | g.133775606C>A | CA354610571 | TF | c.1861C>A (p.Arg621Ser) c.592C>A n.2855C>A c.1729C>A (p.Arg577Ser) c.1480C>A (p.Arg494Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775606C= | CA1403122950 | TF | c.1861C= (p.Arg621=) c.592C= n.2855C= c.1729C= (p.Arg577=) c.1480C= (p.Arg494=) | |
3 | g.133775606C>G | CA354610573 | TF | c.1861C>G (p.Arg621Gly) c.592C>G n.2855C>G c.1729C>G (p.Arg577Gly) c.1480C>G (p.Arg494Gly) | |
3 | g.133775606C>T | CA2625423 | TF | c.1861C>T (p.Arg621Cys) c.592C>T n.2855C>T c.1729C>T (p.Arg577Cys) c.1480C>T (p.Arg494Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775607G>A | CA2625424 | TF | c.1862G>A (p.Arg621His) c.593G>A n.2856G>A c.1730G>A (p.Arg577His) c.1481G>A (p.Arg494His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775607G>C | CA354610579 | TF | c.1862G>C (p.Arg621Pro) c.593G>C n.2856G>C c.1730G>C (p.Arg577Pro) c.1481G>C (p.Arg494Pro) | |
3 | g.133775607G= | CA1403122958 | TF | c.1862G= (p.Arg621=) c.593G= n.2856G= c.1730G= (p.Arg577=) c.1481G= (p.Arg494=) | |
3 | g.133775607G>T | CA354610577 | TF | c.1862G>T (p.Arg621Leu) c.593G>T n.2856G>T c.1730G>T (p.Arg577Leu) c.1481G>T (p.Arg494Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775608T>A | CA435815888 | TF | c.1863T>A (p.Arg621=) c.594T>A n.2857T>A c.1731T>A (p.Arg577=) c.1482T>A (p.Arg494=) | dbSNP gnomAD v2 |
3 | g.133775608T>C | CA435815889 | TF | c.1863T>C (p.Arg621=) c.594T>C n.2857T>C c.1731T>C (p.Arg577=) c.1482T>C (p.Arg494=) | |
3 | g.133775608T>G | CA435815890 | TF | c.1863T>G (p.Arg621=) c.594T>G n.2857T>G c.1731T>G (p.Arg577=) c.1482T>G (p.Arg494=) | |
3 | g.133775608T= | CA1403122966 | TF | c.1863T= (p.Arg621=) c.594T= n.2857T= c.1731T= (p.Arg577=) c.1482T= (p.Arg494=) | |
3 | g.133775609C>A | CA354610583 | TF | c.1864C>A (p.Gln622Lys) c.595C>A n.2858C>A c.1732C>A (p.Gln578Lys) c.1483C>A (p.Gln495Lys) | |
3 | g.133775609C>G | CA354610586 | TF | c.1864C>G (p.Gln622Glu) c.595C>G n.2858C>G c.1732C>G (p.Gln578Glu) c.1483C>G (p.Gln495Glu) | |
3 | g.133775609C>T | CA354610584 | TF | c.1864C>T (p.Gln622Ter) c.595C>T n.2858C>T c.1732C>T (p.Gln578Ter) c.1483C>T (p.Gln495Ter) | |
3 | g.133775610A>C | CA354610589 | TF | c.1865A>C (p.Gln622Pro) c.596A>C n.2859A>C c.1733A>C (p.Gln578Pro) c.1484A>C (p.Gln495Pro) | |
3 | g.133775610A>G | CA354610590 | TF | c.1865A>G (p.Gln622Arg) c.596A>G n.2859A>G c.1733A>G (p.Gln578Arg) c.1484A>G (p.Gln495Arg) | |
3 | g.133775610A>T | CA354610591 | TF | c.1865A>T (p.Gln622Leu) c.596A>T n.2859A>T c.1733A>T (p.Gln578Leu) c.1484A>T (p.Gln495Leu) | |
3 | g.133775611A>C | CA354610592 | TF | c.1866A>C (p.Gln622His) c.597A>C n.2860A>C c.1734A>C (p.Gln578His) c.1485A>C (p.Gln495His) | |
3 | g.133775611A>G | CA435815891 | TF | c.1866A>G (p.Gln622=) c.597A>G n.2860A>G c.1734A>G (p.Gln578=) c.1485A>G (p.Gln495=) | gnomAD v4 |
3 | g.133775611A>T | CA354610593 | TF | c.1866A>T (p.Gln622His) c.597A>T n.2860A>T c.1734A>T (p.Gln578His) c.1485A>T (p.Gln495His) | |
3 | g.133775612C>A | CA354610597 | TF | c.1867C>A (p.Gln623Lys) c.598C>A n.2861C>A c.1735C>A (p.Gln579Lys) c.1486C>A (p.Gln496Lys) | gnomAD v4 COSMIC |
3 | g.133775612C>G | CA354610598 | TF | c.1867C>G (p.Gln623Glu) c.598C>G n.2861C>G c.1735C>G (p.Gln579Glu) c.1486C>G (p.Gln496Glu) | |
3 | g.133775612C>T | CA354610600 | TF | c.1867C>T (p.Gln623Ter) c.598C>T n.2861C>T c.1735C>T (p.Gln579Ter) c.1486C>T (p.Gln496Ter) | |
3 | g.133775613A>C | CA354610602 | TF | c.1868A>C (p.Gln623Pro) c.599A>C n.2862A>C c.1736A>C (p.Gln579Pro) c.1487A>C (p.Gln496Pro) | |
3 | g.133775613A>G | CA354610603 | TF | c.1868A>G (p.Gln623Arg) c.599A>G n.2862A>G c.1736A>G (p.Gln579Arg) c.1487A>G (p.Gln496Arg) | |
3 | g.133775613A>T | CA354610605 | TF | c.1868A>T (p.Gln623Leu) c.599A>T n.2862A>T c.1736A>T (p.Gln579Leu) c.1487A>T (p.Gln496Leu) | |
3 | g.133775614G>A | CA435815892 | TF | c.1869G>A (p.Gln623=) c.600G>A n.2863G>A c.1737G>A (p.Gln579=) c.1488G>A (p.Gln496=) | |
3 | g.133775614G>C | CA354610607 | TF | c.1869G>C (p.Gln623His) c.600G>C n.2863G>C c.1737G>C (p.Gln579His) c.1488G>C (p.Gln496His) | |
3 | g.133775614G>T | CA354610609 | TF | c.1869G>T (p.Gln623His) c.600G>T n.2863G>T c.1737G>T (p.Gln579His) c.1488G>T (p.Gln496His) | |
3 | g.133775614_133775629delinsGCAGGTATGGACCAGC | CA1403122969 | TF | c.1869_1872+12delinsGCAGGTATGGACCAGC c.600_603+12delinsGCAGGTATGGACCAGC n.2863_2866+12delinsGCAGGTATGGACCAGC c.1737_1740+12delinsGCAGGTATGGACCAGC c.1488_1491+12delinsGCAGGTATGGACCAGC | |
3 | g.133775615C>A | CA354610612 | TF | c.1870C>A (p.Gln624Lys) c.601C>A n.2864C>A c.1738C>A (p.Gln580Lys) c.1489C>A (p.Gln497Lys) | |
3 | g.133775615C= | CA1403122974 | TF | c.1870C= (p.Gln624=) c.601C= n.2864C= c.1738C= (p.Gln580=) c.1489C= (p.Gln497=) | |
3 | g.133775615C>G | CA2625425 | TF | c.1870C>G (p.Gln624Glu) c.601C>G n.2864C>G c.1738C>G (p.Gln580Glu) c.1489C>G (p.Gln497Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775615C>T | CA354610613 | TF | c.1870C>T (p.Gln624Ter) c.601C>T n.2864C>T c.1738C>T (p.Gln580Ter) c.1489C>T (p.Gln497Ter) | dbSNP gnomAD v4 |
3 | g.133775620_133775634del | CA917011696 | TF | c.1872+3_1872+17del c.603+3_603+17del n.2866+3_2866+17del c.1740+3_1740+17del c.1491+3_1491+17del | dbSNP gnomAD v4 |
3 | g.133775616del | CA2667772099 | TF | c.1871del (p.Gln624ArgfsTer8) c.602del n.2865del c.1739del (p.Gln580ArgfsTer8) c.1490del (p.Gln497ArgfsTer8) | gnomAD v4 |
3 | g.133775616A>C | CA354610617 | TF | c.1871A>C (p.Gln624Pro) c.602A>C n.2865A>C c.1739A>C (p.Gln580Pro) c.1490A>C (p.Gln497Pro) | |
3 | g.133775616A>G | CA354610619 | TF | c.1871A>G (p.Gln624Arg) c.602A>G n.2865A>G c.1739A>G (p.Gln580Arg) c.1490A>G (p.Gln497Arg) | |
3 | g.133775616A>T | CA354610620 | TF | c.1871A>T (p.Gln624Leu) c.602A>T n.2865A>T c.1739A>T (p.Gln580Leu) c.1490A>T (p.Gln497Leu) | |
3 | g.133775617G>A | CA435815893 | TF | c.1872G>A (p.Gln624=) c.603G>A n.2866G>A c.1740G>A (p.Gln580=) c.1491G>A (p.Gln497=) | |
3 | g.133775617G>C | CA354610623 | TF | c.1872G>C (p.Gln624His) c.603G>C n.2866G>C c.1740G>C (p.Gln580His) c.1491G>C (p.Gln497His) | |
3 | g.133775617G= | CA1403122977 | TF | c.1872G= (p.Gln624=) c.603G= n.2866G= c.1740G= (p.Gln580=) c.1491G= (p.Gln497=) | |
3 | g.133775617G>T | CA354610624 | TF | c.1872G>T (p.Gln624His) c.603G>T n.2866G>T c.1740G>T (p.Gln580His) c.1491G>T (p.Gln497His) | dbSNP |
3 | g.133775618G>A | CA354610625 | TF | c.1872+1G>A (n.1872+1G>A) c.603+1G>A n.2866+1G>A c.1740+1G>A (n.1740+1G>A) c.1491+1G>A (n.1491+1G>A) | |
3 | g.133775618G>C | CA2625426 | TF | c.1872+1G>C (n.1872+1G>C) c.603+1G>C n.2866+1G>C c.1740+1G>C (n.1740+1G>C) c.1491+1G>C (n.1491+1G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775618G= | CA1403122981 | TF | c.1872+1G= (n.1872+1G=) c.603+1G= n.2866+1G= c.1740+1G= (n.1740+1G=) c.1491+1G= (n.1491+1G=) | |
3 | g.133775618G>T | CA354610629 | TF | c.1872+1G>T (n.1872+1G>T) c.603+1G>T n.2866+1G>T c.1740+1G>T (n.1740+1G>T) c.1491+1G>T (n.1491+1G>T) | |
3 | g.133775619T>A | CA354610631 | TF | c.1872+2T>A (n.1872+2T>A) c.603+2T>A n.2866+2T>A c.1740+2T>A (n.1740+2T>A) c.1491+2T>A (n.1491+2T>A) | |
3 | g.133775619T>C | CA354610633 | TF | c.1872+2T>C (n.1872+2T>C) c.603+2T>C n.2866+2T>C c.1740+2T>C (n.1740+2T>C) c.1491+2T>C (n.1491+2T>C) | |
3 | g.133775619T>G | CA354610635 | TF | c.1872+2T>G (n.1872+2T>G) c.603+2T>G n.2866+2T>G c.1740+2T>G (n.1740+2T>G) c.1491+2T>G (n.1491+2T>G) | |
3 | g.133775620A= | CA1403122984 | TF | c.1872+3A= (n.1872+3A=) c.603+3A= n.2866+3A= c.1740+3A= (n.1740+3A=) c.1491+3A= (n.1491+3A=) | |
3 | g.133775620A>G | CA546420552 | TF | c.1872+3A>G (n.1872+3A>G) c.603+3A>G n.2866+3A>G c.1740+3A>G (n.1740+3A>G) c.1491+3A>G (n.1491+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775621T>C | CA2577907400 | TF | c.1872+4T>C (n.1872+4T>C) c.603+4T>C n.2866+4T>C c.1740+4T>C (n.1740+4T>C) c.1491+4T>C (n.1491+4T>C) | gnomAD v4 |
3 | g.133775621T= | CA1403122990 | TF | c.1872+4T= (n.1872+4T=) c.603+4T= n.2866+4T= c.1740+4T= (n.1740+4T=) c.1491+4T= (n.1491+4T=) | |
3 | g.133775621_133775622insCTGTTGGGA | CA546420553 | TF | c.1872+4_1872+5insCTGTTGGGA (n.1872+4_1872+5insCTGTTGGGA) c.603+4_603+5insCTGTTGGGA n.2866+4_2866+5insCTGTTGGGA c.1740+4_1740+5insCTGTTGGGA (n.1740+4_1740+5insCTGTTGGGA) c.1491+4_1491+5insCTGTTGGGA (n.1491+4_1491+5insCTGTTGGGA) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775622G>A | CA546420554 | TF | c.1872+5G>A (n.1872+5G>A) c.603+5G>A n.2866+5G>A c.1740+5G>A (n.1740+5G>A) c.1491+5G>A (n.1491+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775622G= | CA1403122999 | TF | c.1872+5G= (n.1872+5G=) c.603+5G= n.2866+5G= c.1740+5G= (n.1740+5G=) c.1491+5G= (n.1491+5G=) | |
3 | g.133775622G>T | CA645516350 | TF | c.1872+5G>T (n.1872+5G>T) c.603+5G>T n.2866+5G>T c.1740+5G>T (n.1740+5G>T) c.1491+5G>T (n.1491+5G>T) | COSMIC |
3 | g.133775624A= | CA1403123002 | TF | c.1872+7A= (n.1872+7A=) c.603+7A= n.2866+7A= c.1740+7A= (n.1740+7A=) c.1491+7A= (n.1491+7A=) | |
3 | g.133775624A>C | CA1403123004 | TF | c.1872+7A>C (n.1872+7A>C) c.603+7A>C n.2866+7A>C c.1740+7A>C (n.1740+7A>C) c.1491+7A>C (n.1491+7A>C) | dbSNP |
3 | g.133775624A>G | CA83693061 | TF | c.1872+7A>G (n.1872+7A>G) c.603+7A>G n.2866+7A>G c.1740+7A>G (n.1740+7A>G) c.1491+7A>G (n.1491+7A>G) | dbSNP |
3 | g.133775625C>G | CA2577907401 | TF | c.1872+8C>G (n.1872+8C>G) c.603+8C>G n.2866+8C>G c.1740+8C>G (n.1740+8C>G) c.1491+8C>G (n.1491+8C>G) | |
3 | g.133775626C>A | CA546420555 | TF | c.1872+9C>A (n.1872+9C>A) c.603+9C>A n.2866+9C>A c.1740+9C>A (n.1740+9C>A) c.1491+9C>A (n.1491+9C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775626C= | CA1403123008 | TF | c.1872+9C= (n.1872+9C=) c.603+9C= n.2866+9C= c.1740+9C= (n.1740+9C=) c.1491+9C= (n.1491+9C=) | |
3 | g.133775627A= | CA1403123014 | TF | c.1872+10A= (n.1872+10A=) c.603+10A= n.2866+10A= c.1740+10A= (n.1740+10A=) c.1491+10A= (n.1491+10A=) | |
3 | g.133775627A>T | CA546420556 | TF | c.1872+10A>T (n.1872+10A>T) c.603+10A>T n.2866+10A>T c.1740+10A>T (n.1740+10A>T) c.1491+10A>T (n.1491+10A>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775628G>A | CA2577907402 | TF | c.1872+11G>A (n.1872+11G>A) c.603+11G>A n.2866+11G>A c.1740+11G>A (n.1740+11G>A) c.1491+11G>A (n.1491+11G>A) | gnomAD v4 |
3 | g.133775629C>A | CA2625427 | TF | c.1872+12C>A (n.1872+12C>A) c.603+12C>A n.2866+12C>A c.1740+12C>A (n.1740+12C>A) c.1491+12C>A (n.1491+12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775629C= | CA1403123018 | TF | c.1872+12C= (n.1872+12C=) c.603+12C= n.2866+12C= c.1740+12C= (n.1740+12C=) c.1491+12C= (n.1491+12C=) | |
3 | g.133775629C>G | CA546420557 | TF | c.1872+12C>G (n.1872+12C>G) c.603+12C>G n.2866+12C>G c.1740+12C>G (n.1740+12C>G) c.1491+12C>G (n.1491+12C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775629C>T | CA2667772100 | TF | c.1872+12C>T (n.1872+12C>T) c.603+12C>T n.2866+12C>T c.1740+12C>T (n.1740+12C>T) c.1491+12C>T (n.1491+12C>T) | ClinVar gnomAD v4 |
3 | g.133775630C>A | CA2667772101 | TF | c.1872+13C>A (n.1872+13C>A) c.603+13C>A n.2866+13C>A c.1740+13C>A (n.1740+13C>A) c.1491+13C>A (n.1491+13C>A) | gnomAD v4 |
3 | g.133775630C= | CA1403123023 | TF | c.1872+13C= (n.1872+13C=) c.603+13C= n.2866+13C= c.1740+13C= (n.1740+13C=) c.1491+13C= (n.1491+13C=) | |
3 | g.133775630C>T | CA2625428 | TF | c.1872+13C>T (n.1872+13C>T) c.603+13C>T n.2866+13C>T c.1740+13C>T (n.1740+13C>T) c.1491+13C>T (n.1491+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775631A= | CA1403123028 | TF | c.1872+14A= (n.1872+14A=) c.603+14A= n.2866+14A= c.1740+14A= (n.1740+14A=) c.1491+14A= (n.1491+14A=) | |
3 | g.133775631A>G | CA2625429 | TF | c.1872+14A>G (n.1872+14A>G) c.603+14A>G n.2866+14A>G c.1740+14A>G (n.1740+14A>G) c.1491+14A>G (n.1491+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775631A>T | CA546420558 | TF | c.1872+14A>T (n.1872+14A>T) c.603+14A>T n.2866+14A>T c.1740+14A>T (n.1740+14A>T) c.1491+14A>T (n.1491+14A>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775632G>A | CA2577907403 | TF | c.1872+15G>A (n.1872+15G>A) c.603+15G>A n.2866+15G>A c.1740+15G>A (n.1740+15G>A) c.1491+15G>A (n.1491+15G>A) | |
3 | g.133775632G>C | CA1403123036 | TF | c.1872+15G>C (n.1872+15G>C) c.603+15G>C n.2866+15G>C c.1740+15G>C (n.1740+15G>C) c.1491+15G>C (n.1491+15G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.133775632G= | CA1403123032 | TF | c.1872+15G= (n.1872+15G=) c.603+15G= n.2866+15G= c.1740+15G= (n.1740+15G=) c.1491+15G= (n.1491+15G=) | |
3 | g.133775633G>A | CA546420559 | TF | c.1872+16G>A (n.1872+16G>A) c.603+16G>A n.2866+16G>A c.1740+16G>A (n.1740+16G>A) c.1491+16G>A (n.1491+16G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775633G= | CA1403123045 | TF | c.1872+16G= (n.1872+16G=) c.603+16G= n.2866+16G= c.1740+16G= (n.1740+16G=) c.1491+16G= (n.1491+16G=) | |
3 | g.133775634T>C | CA2625430 | TF | c.1872+17T>C (n.1872+17T>C) c.603+17T>C n.2866+17T>C c.1740+17T>C (n.1740+17T>C) c.1491+17T>C (n.1491+17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775634T>G | CA2704019345 | TF | c.1872+17T>G (n.1872+17T>G) c.603+17T>G n.2866+17T>G c.1740+17T>G (n.1740+17T>G) c.1491+17T>G (n.1491+17T>G) | dbSNP |
3 | g.133775634T= | CA1403123049 | TF | c.1872+17T= (n.1872+17T=) c.603+17T= n.2866+17T= c.1740+17T= (n.1740+17T=) c.1491+17T= (n.1491+17T=) | |
3 | g.133775636C>A | CA648502225 | TF | c.1872+19C>A (n.1872+19C>A) c.603+19C>A n.2866+19C>A c.1740+19C>A (n.1740+19C>A) c.1491+19C>A (n.1491+19C>A) | COSMIC |
3 | g.133775636C= | CA1403123053 | TF | c.1872+19C= (n.1872+19C=) c.603+19C= n.2866+19C= c.1740+19C= (n.1740+19C=) c.1491+19C= (n.1491+19C=) | |
3 | g.133775636C>T | CA1403123054 | TF | c.1872+19C>T (n.1872+19C>T) c.603+19C>T n.2866+19C>T c.1740+19C>T (n.1740+19C>T) c.1491+19C>T (n.1491+19C>T) | dbSNP |
3 | g.133775637T>C | CA2667772102 | TF | c.1872+20T>C (n.1872+20T>C) c.603+20T>C n.2866+20T>C c.1740+20T>C (n.1740+20T>C) c.1491+20T>C (n.1491+20T>C) | ClinVar gnomAD v4 |
3 | g.133775638C= | CA1403123059 | TF | c.1872+21C= (n.1872+21C=) c.603+21C= n.2866+21C= c.1740+21C= (n.1740+21C=) c.1491+21C= (n.1491+21C=) | |
3 | g.133775638C>T | CA546420560 | TF | c.1872+21C>T (n.1872+21C>T) c.603+21C>T n.2866+21C>T c.1740+21C>T (n.1740+21C>T) c.1491+21C>T (n.1491+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775642C= | CA1403123065 | TF | c.1872+25C= (n.1872+25C=) c.603+25C= n.2866+25C= c.1740+25C= (n.1740+25C=) c.1491+25C= (n.1491+25C=) | |
3 | g.133775642C>G | CA2667772103 | TF | c.1872+25C>G (n.1872+25C>G) c.603+25C>G n.2866+25C>G c.1740+25C>G (n.1740+25C>G) c.1491+25C>G (n.1491+25C>G) | gnomAD v4 |
3 | g.133775642C>T | CA2625431 | TF | c.1872+25C>T (n.1872+25C>T) c.603+25C>T n.2866+25C>T c.1740+25C>T (n.1740+25C>T) c.1491+25C>T (n.1491+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775643C>A | CA2625432 | TF | c.1872+26C>A (n.1872+26C>A) c.603+26C>A n.2866+26C>A c.1740+26C>A (n.1740+26C>A) c.1491+26C>A (n.1491+26C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775643C= | CA1403123073 | TF | c.1872+26C= (n.1872+26C=) c.603+26C= n.2866+26C= c.1740+26C= (n.1740+26C=) c.1491+26C= (n.1491+26C=) | |
3 | g.133775643C>T | CA2667772104 | TF | c.1872+26C>T (n.1872+26C>T) c.603+26C>T n.2866+26C>T c.1740+26C>T (n.1740+26C>T) c.1491+26C>T (n.1491+26C>T) | gnomAD v4 |
3 | g.133775645T>G | CA2577907404 | TF | c.1872+28T>G (n.1872+28T>G) c.603+28T>G n.2866+28T>G c.1740+28T>G (n.1740+28T>G) c.1491+28T>G (n.1491+28T>G) | gnomAD v4 |
3 | g.133775649T>C | CA899131825 | TF | c.1872+32T>C (n.1872+32T>C) c.603+32T>C n.2866+32T>C c.1740+32T>C (n.1740+32T>C) c.1491+32T>C (n.1491+32T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775649T= | CA1403123075 | TF | c.1872+32T= (n.1872+32T=) c.603+32T= n.2866+32T= c.1740+32T= (n.1740+32T=) c.1491+32T= (n.1491+32T=) | |
3 | g.133775651C= | CA1403123081 | TF | c.1872+34C= (n.1872+34C=) c.603+34C= n.2866+34C= c.1740+34C= (n.1740+34C=) c.1491+34C= (n.1491+34C=) | |
3 | g.133775651C>T | CA83693122 | TF | c.1872+34C>T (n.1872+34C>T) c.603+34C>T n.2866+34C>T c.1740+34C>T (n.1740+34C>T) c.1491+34C>T (n.1491+34C>T) | dbSNP |
3 | g.133775652C>A | CA2667772105 | TF | c.1872+35C>A (n.1872+35C>A) c.603+35C>A n.2866+35C>A c.1740+35C>A (n.1740+35C>A) c.1491+35C>A (n.1491+35C>A) | gnomAD v4 |
3 | g.133775653T>C | CA83693134 | TF | c.1872+36T>C (n.1872+36T>C) c.603+36T>C n.2866+36T>C c.1740+36T>C (n.1740+36T>C) c.1491+36T>C (n.1491+36T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775653T= | CA1403123086 | TF | c.1872+36T= (n.1872+36T=) c.603+36T= n.2866+36T= c.1740+36T= (n.1740+36T=) c.1491+36T= (n.1491+36T=) | |
3 | g.133775654A= | CA1403123095 | TF | c.1872+37A= (n.1872+37A=) c.603+37A= n.2866+37A= c.1740+37A= (n.1740+37A=) c.1491+37A= (n.1491+37A=) | |
3 | g.133775654A>G | CA1403123094 | TF | c.1872+37A>G (n.1872+37A>G) c.603+37A>G n.2866+37A>G c.1740+37A>G (n.1740+37A>G) c.1491+37A>G (n.1491+37A>G) | dbSNP gnomAD v4 |
3 | g.133775655G>A | CA899131829 | TF | c.1872+38G>A (n.1872+38G>A) c.603+38G>A n.2866+38G>A c.1740+38G>A (n.1740+38G>A) c.1491+38G>A (n.1491+38G>A) | dbSNP |
3 | g.133775655G>C | CA2667772106 | TF | c.1872+38G>C (n.1872+38G>C) c.603+38G>C n.2866+38G>C c.1740+38G>C (n.1740+38G>C) c.1491+38G>C (n.1491+38G>C) | gnomAD v4 |
3 | g.133775655G= | CA1403123098 | TF | c.1872+38G= (n.1872+38G=) c.603+38G= n.2866+38G= c.1740+38G= (n.1740+38G=) c.1491+38G= (n.1491+38G=) | |
3 | g.133775659G>A | CA2577907405 | TF | c.1872+42G>A (n.1872+42G>A) c.603+42G>A n.2866+42G>A c.1740+42G>A (n.1740+42G>A) c.1491+42G>A (n.1491+42G>A) | gnomAD v4 |