Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80110708_80110723delinsGCAGCCTCTCGTTGTC | CA2277814038 | GAA | c.1438-19_1438-4delinsGCAGCCTCTCGTTGTC (n.1438-19_1438-4delinsGCAGCCTCTCGTTGTC) | |
17 | g.80110712_80110726del | CA913191007 | GAA | c.1438-15_1438-1del (n.1438-15_1438-1del) | ClinVar dbSNP |
17 | g.80110717_80110720delinsCGTT | CA2277814049 | GAA | c.1438-10_1438-7delinsCGTT (n.1438-10_1438-7delinsCGTT) | |
17 | g.80110720_80110722del | CA8815344 | GAA | c.1438-7_1438-5del (n.1438-7_1438-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110720T>C | CA775514322 | GAA | c.1438-7T>C (n.1438-7T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.80110720T= | CA2277814052 | GAA | c.1438-7T= (n.1438-7T=) | |
17 | g.80110721G>A | CA775514323 | GAA | c.1438-6G>A (n.1438-6G>A) | dbSNP |
17 | g.80110721G>C | CA2573154972 | GAA | c.1438-6G>C (n.1438-6G>C) | ClinVar dbSNP |
17 | g.80110721G= | CA2277814053 | GAA | c.1438-6G= (n.1438-6G=) | |
17 | g.80110724C= | CA2277814054 | GAA | c.1438-3C= (n.1438-3C=) | |
17 | g.80110724C>G | CA986707233 | GAA | c.1438-3C>G (n.1438-3C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110725A= | CA2277814055 | GAA | c.1438-2A= (n.1438-2A=) | |
17 | g.80110725A>C | CA401366753 | GAA | c.1438-2A>C (n.1438-2A>C) | ClinVar dbSNP |
17 | g.80110725A>G | CA401366755 | GAA | c.1438-2A>G (n.1438-2A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.80110725A>T | CA401366756 | GAA | c.1438-2A>T (n.1438-2A>T) | |
17 | g.80110726G>A | CA401366757 | GAA | c.1438-1G>A (n.1438-1G>A) | ClinVar |
17 | g.80110726G>C | CA274472 | GAA | c.1438-1G>C (n.1438-1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110726G= | CA2277814056 | GAA | c.1438-1G= (n.1438-1G=) | |
17 | g.80110726G>T | CA8815346 | GAA | c.1438-1G>T (n.1438-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110727G>A | CA8815347 | GAA | c.1438G>A (p.Val480Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110727G>C | CA401366761 | GAA | c.1438G>C (p.Val480Leu) | dbSNP gnomAD v4 |
17 | g.80110727G= | CA2277814057 | GAA | c.1438G= (p.Val480=) | |
17 | g.80110727G>T | CA401366763 | GAA | c.1438G>T (p.Val480Leu) | |
17 | g.80110728T>A | CA401366766 | GAA | c.1439T>A (p.Val480Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110728T>C | CA401366767 | GAA | c.1439T>C (p.Val480Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.80110728T>G | CA401366768 | GAA | c.1439T>G (p.Val480Gly) | |
17 | g.80110728T= | CA2277814058 | GAA | c.1439T= (p.Val480=) | |
17 | g.80110729A= | CA2277814059 | GAA | c.1440A= (p.Val480=) | |
17 | g.80110729A>C | CA502178523 | GAA | c.1440A>C (p.Val480=) | |
17 | g.80110729A>G | CA502178521 | GAA | c.1440A>G (p.Val480=) | ClinVar dbSNP gnomAD v4 |
17 | g.80110729A>T | CA502178522 | GAA | c.1440A>T (p.Val480=) | |
17 | g.80110729_80110730delinsAT | CA2277814060 | GAA | c.1440_1441delinsAT (p.Val480=) | |
17 | g.80110730del | CA627699575 | GAA | c.1441del (p.Trp481GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110730T>A | CA401366772 | GAA | c.1441T>A (p.Trp481Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110730T>C | CA274247 | GAA | c.1441T>C (p.Trp481Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110730T>G | CA401366771 | GAA | c.1441T>G (p.Trp481Gly) | |
17 | g.80110730T= | CA2277814061 | GAA | c.1441T= (p.Trp481=) | |
17 | g.80110731G>A | CA401366775 | GAA | c.1442G>A (p.Trp481Ter) | |
17 | g.80110731G>C | CA401366777 | GAA | c.1442G>C (p.Trp481Ser) | |
17 | g.80110731G>T | CA401366778 | GAA | c.1442G>T (p.Trp481Leu) | |
17 | g.80110733_80110737del | CA2695227092 | GAA | c.1444_1448del (p.Pro482ValfsTer22) | |
17 | g.80110732G>A | CA401366781 | GAA | c.1443G>A (p.Trp481Ter) | ClinVar dbSNP |
17 | g.80110732G>C | CA401366783 | GAA | c.1443G>C (p.Trp481Cys) | |
17 | g.80110732G>T | CA401366784 | GAA | c.1443G>T (p.Trp481Cys) | |
17 | g.80110733C>A | CA401366787 | GAA | c.1444C>A (p.Pro482Thr) | |
17 | g.80110733C>G | CA401366788 | GAA | c.1444C>G (p.Pro482Ala) | |
17 | g.80110733C>T | CA401366790 | GAA | c.1444C>T (p.Pro482Ser) | |
17 | g.80110734C>A | CA401366792 | GAA | c.1445C>A (p.Pro482His) | |
17 | g.80110734C= | CA2277814062 | GAA | c.1445C= (p.Pro482=) | |
17 | g.80110734C>G | CA401366794 | GAA | c.1445C>G (p.Pro482Arg) | ClinVar dbSNP |
17 | g.80110734C>T | CA401366796 | GAA | c.1445C>T (p.Pro482Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.80110735C>A | CA502178524 | GAA | c.1446C>A (p.Pro482=) | |
17 | g.80110735C= | CA2277814063 | GAA | c.1446C= (p.Pro482=) | |
17 | g.80110735C>G | CA502178525 | GAA | c.1446C>G (p.Pro482=) | |
17 | g.80110735C>T | CA8815348 | GAA | c.1446C>T (p.Pro482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110736G>A | CA8815349 | GAA | c.1447G>A (p.Gly483Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110736G>C | CA401366800 | GAA | c.1447G>C (p.Gly483Arg) | |
17 | g.80110736G= | CA2277814064 | GAA | c.1447G= (p.Gly483=) | |
17 | g.80110736G>T | CA401366801 | GAA | c.1447G>T (p.Gly483Trp) | COSMIC |
17 | g.80110737G>A | CA401366804 | GAA | c.1448G>A (p.Gly483Glu) | |
17 | g.80110737G>C | CA401366805 | GAA | c.1448G>C (p.Gly483Ala) | |
17 | g.80110737G= | CA2277814065 | GAA | c.1448G= (p.Gly483=) | |
17 | g.80110737G>T | CA401366807 | GAA | c.1448G>T (p.Gly483Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110738G>A | CA502178526 | GAA | c.1449G>A (p.Gly483=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110738G>C | CA502178527 | GAA | c.1449G>C (p.Gly483=) | |
17 | g.80110738G= | CA2277814066 | GAA | c.1449G= (p.Gly483=) | |
17 | g.80110738G>T | CA502178528 | GAA | c.1449G>T (p.Gly483=) | |
17 | g.80110739T>A | CA401366813 | GAA | c.1450T>A (p.Ser484Thr) | |
17 | g.80110739T>C | CA401366811 | GAA | c.1450T>C (p.Ser484Pro) | gnomAD v4 |
17 | g.80110739T>G | CA401366810 | GAA | c.1450T>G (p.Ser484Ala) | dbSNP |
17 | g.80110739T= | CA2277814067 | GAA | c.1450T= (p.Ser484=) | |
17 | g.80110740C>A | CA401366815 | GAA | c.1451C>A (p.Ser484Tyr) | |
17 | g.80110740C= | CA2277814068 | GAA | c.1451C= (p.Ser484=) | |
17 | g.80110740C>G | CA401366817 | GAA | c.1451C>G (p.Ser484Cys) | dbSNP gnomAD v2 |
17 | g.80110740C>T | CA401366818 | GAA | c.1451C>T (p.Ser484Phe) | |
17 | g.80110741dup | CA775514379 | GAA | c.1452dup (p.Thr485HisfsTer21) | dbSNP |
17 | g.80110741C>A | CA502178529 | GAA | c.1452C>A (p.Ser484=) | |
17 | g.80110741C>G | CA502178530 | GAA | c.1452C>G (p.Ser484=) | |
17 | g.80110741C>T | CA502178531 | GAA | c.1452C>T (p.Ser484=) | |
17 | g.80110742A= | CA2277814069 | GAA | c.1453A= (p.Thr485=) | |
17 | g.80110742A>C | CA401366821 | GAA | c.1453A>C (p.Thr485Pro) | ClinVar dbSNP |
17 | g.80110742A>G | CA401366822 | GAA | c.1453A>G (p.Thr485Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110742A>T | CA401366824 | GAA | c.1453A>T (p.Thr485Ser) | |
17 | g.80110745_80110757del | CA645369127 | GAA | c.1456_1468del (p.Ala486SerfsTer30) | |
17 | g.80110743C>A | CA401366826 | GAA | c.1454C>A (p.Thr485Asn) | |
17 | g.80110743C>G | CA401366830 | GAA | c.1454C>G (p.Thr485Ser) | gnomAD v4 |
17 | g.80110743C>T | CA401366828 | GAA | c.1454C>T (p.Thr485Ile) | ClinVar dbSNP |
17 | g.80110743_80110744insGGCC | CA2640288297 | GAA | c.1454_1455insGGCC (p.Phe487CysfsTer20) | gnomAD v4 |
17 | g.80110744T>A | CA502178532 | GAA | c.1455T>A (p.Thr485=) | |
17 | g.80110744T>C | CA502178533 | GAA | c.1455T>C (p.Thr485=) | ClinVar dbSNP gnomAD v4 |
17 | g.80110744T>G | CA8815350 | GAA | c.1455T>G (p.Thr485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110744T= | CA2277814070 | GAA | c.1455T= (p.Thr485=) | |
17 | g.80110744_80110745insTCCCCGACTTCACC | CA2640288313 | GAA | c.1455_1456insTCCCCGACTTCACC (p.Ala486SerfsTer?) | gnomAD v4 |
17 | g.80110745G>A | CA401366833 | GAA | c.1456G>A (p.Ala486Thr) | ClinVar dbSNP |
17 | g.80110745G>C | CA401366835 | GAA | c.1456G>C (p.Ala486Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110745G= | CA2277814071 | GAA | c.1456G= (p.Ala486=) | |
17 | g.80110745G>T | CA401366836 | GAA | c.1456G>T (p.Ala486Ser) | ClinVar dbSNP gnomAD v2 |
17 | g.80110745_80110756del | CA645369126 | GAA | c.1456_1467del (p.Ala486_Asp489del) | |
17 | g.80110746C>A | CA401366839 | GAA | c.1457C>A (p.Ala486Asp) | |
17 | g.80110746C= | CA2277814072 | GAA | c.1457C= (p.Ala486=) | |
17 | g.80110746C>G | CA401366841 | GAA | c.1457C>G (p.Ala486Gly) | |
17 | g.80110746C>T | CA401366842 | GAA | c.1457C>T (p.Ala486Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80110747del | CA2640288322 | GAA | c.1458del (p.Phe487SerfsTer?) | gnomAD v4 |
17 | g.80110747C>A | CA502178534 | GAA | c.1458C>A (p.Ala486=) | |
17 | g.80110747C= | CA2277814073 | GAA | c.1458C= (p.Ala486=) | |
17 | g.80110747C>G | CA502178535 | GAA | c.1458C>G (p.Ala486=) | |
17 | g.80110747C>T | CA294894863 | GAA | c.1458C>T (p.Ala486=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.80110748T>A | CA401366844 | GAA | c.1459T>A (p.Phe487Ile) | |
17 | g.80110748T>C | CA401366846 | GAA | c.1459T>C (p.Phe487Leu) | |
17 | g.80110748T>G | CA401366848 | GAA | c.1459T>G (p.Phe487Val) | gnomAD v4 |
17 | g.80110749T>A | CA401366853 | GAA | c.1460T>A (p.Phe487Tyr) | |
17 | g.80110749T>C | CA401366851 | GAA | c.1460T>C (p.Phe487Ser) | gnomAD v4 |
17 | g.80110749T>G | CA401366850 | GAA | c.1460T>G (p.Phe487Cys) | |
17 | g.80110749T= | CA2277814074 | GAA | c.1460T= (p.Phe487=) | |
17 | g.80110750C>A | CA401366854 | GAA | c.1461C>A (p.Phe487Leu) | |
17 | g.80110750C>G | CA401366857 | GAA | c.1461C>G (p.Phe487Leu) | ClinVar |
17 | g.80110750C>T | CA502178536 | GAA | c.1461C>T (p.Phe487=) | ClinVar |
17 | g.80110753dup | CA916082444 | GAA | c.1464dup (p.Asp489ArgfsTer17) | ClinVar dbSNP gnomAD v4 |
17 | g.80110751C>A | CA401366858 | GAA | c.1462C>A (p.Pro488Thr) | |
17 | g.80110751C= | CA2277814075 | GAA | c.1462C= (p.Pro488=) | |
17 | g.80110751C>G | CA8815351 | GAA | c.1462C>G (p.Pro488Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110751C>T | CA401366859 | GAA | c.1462C>T (p.Pro488Ser) | gnomAD v4 |
17 | g.80110752C>A | CA401366863 | GAA | c.1463C>A (p.Pro488His) | |
17 | g.80110752C>G | CA401366866 | GAA | c.1463C>G (p.Pro488Arg) | |
17 | g.80110752C>T | CA401366865 | GAA | c.1463C>T (p.Pro488Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80110753C>A | CA502178537 | GAA | c.1464C>A (p.Pro488=) | |
17 | g.80110753C= | CA2277814076 | GAA | c.1464C= (p.Pro488=) | |
17 | g.80110753C>G | CA502178538 | GAA | c.1464C>G (p.Pro488=) | |
17 | g.80110753C>T | CA8815352 | GAA | c.1464C>T (p.Pro488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110754G>A | CA220390 | GAA | c.1465G>A (p.Asp489Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110754G>C | CA401366870 | GAA | c.1465G>C (p.Asp489His) | |
17 | g.80110754G= | CA2277814077 | GAA | c.1465G= (p.Asp489=) | |
17 | g.80110754G>T | CA401366871 | GAA | c.1465G>T (p.Asp489Tyr) | |
17 | g.80110755A>C | CA401366874 | GAA | c.1466A>C (p.Asp489Ala) | |
17 | g.80110755A>G | CA401366876 | GAA | c.1466A>G (p.Asp489Gly) | ClinVar |
17 | g.80110755A>T | CA401366877 | GAA | c.1466A>T (p.Asp489Val) | |
17 | g.80110756C>A | CA401366879 | GAA | c.1467C>A (p.Asp489Glu) | |
17 | g.80110756C>G | CA401366881 | GAA | c.1467C>G (p.Asp489Glu) | |
17 | g.80110756C>T | CA502178539 | GAA | c.1467C>T (p.Asp489=) | |
17 | g.80110757T>A | CA401366887 | GAA | c.1468T>A (p.Phe490Ile) | |
17 | g.80110757T>C | CA401366885 | GAA | c.1468T>C (p.Phe490Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.80110757T>G | CA401366883 | GAA | c.1468T>G (p.Phe490Val) | |
17 | g.80110758T>A | CA401366889 | GAA | c.1469T>A (p.Phe490Tyr) | |
17 | g.80110758T>C | CA401366891 | GAA | c.1469T>C (p.Phe490Ser) | |
17 | g.80110758T>G | CA401366893 | GAA | c.1469T>G (p.Phe490Cys) | ClinVar |
17 | g.80110759C>A | CA401366895 | GAA | c.1470C>A (p.Phe490Leu) | |
17 | g.80110759C>G | CA401366897 | GAA | c.1470C>G (p.Phe490Leu) | |
17 | g.80110759C>T | CA502178540 | GAA | c.1470C>T (p.Phe490=) | |
17 | g.80110761_80110763del | CA2580095748 | GAA | c.1472_1474del (p.Thr491del) | ClinVar |
17 | g.80110760A>C | CA401366899 | GAA | c.1471A>C (p.Thr491Pro) | |
17 | g.80110760A>G | CA401366900 | GAA | c.1471A>G (p.Thr491Ala) | |
17 | g.80110760A>T | CA401366902 | GAA | c.1471A>T (p.Thr491Ser) | |
17 | g.80110761C>A | CA401366904 | GAA | c.1472C>A (p.Thr491Asn) | |
17 | g.80110761C>G | CA401366905 | GAA | c.1472C>G (p.Thr491Ser) | |
17 | g.80110761C>T | CA401366906 | GAA | c.1472C>T (p.Thr491Ile) | |
17 | g.80110762C>A | CA502178541 | GAA | c.1473C>A (p.Thr491=) | |
17 | g.80110762C>G | CA502178543 | GAA | c.1473C>G (p.Thr491=) | |
17 | g.80110762C>T | CA502178542 | GAA | c.1473C>T (p.Thr491=) | |
17 | g.80110763A>C | CA401366910 | GAA | c.1474A>C (p.Asn492His) | |
17 | g.80110763A>G | CA401366912 | GAA | c.1474A>G (p.Asn492Asp) | gnomAD v4 |
17 | g.80110763A>T | CA401366909 | GAA | c.1474A>T (p.Asn492Tyr) | |
17 | g.80110764A>C | CA401366915 | GAA | c.1475A>C (p.Asn492Thr) | |
17 | g.80110764A>G | CA401366916 | GAA | c.1475A>G (p.Asn492Ser) | gnomAD v4 |
17 | g.80110764A>T | CA401366917 | GAA | c.1475A>T (p.Asn492Ile) | |
17 | g.80110765_80110771dup | CA2695227093 | GAA | c.1476_1482dup (p.Ala495ProfsTer13) | |
17 | g.80110765C>A | CA401366919 | GAA | c.1476C>A (p.Asn492Lys) | |
17 | g.80110765C>G | CA401366921 | GAA | c.1476C>G (p.Asn492Lys) | |
17 | g.80110765C>T | CA502178544 | GAA | c.1476C>T (p.Asn492=) | |
17 | g.80110766C>A | CA401366923 | GAA | c.1477C>A (p.Pro493Thr) | |
17 | g.80110766C= | CA2277814078 | GAA | c.1477C= (p.Pro493=) | |
17 | g.80110766C>G | CA401366924 | GAA | c.1477C>G (p.Pro493Ala) | |
17 | g.80110766C>T | CA401366926 | GAA | c.1477C>T (p.Pro493Ser) | ClinVar dbSNP |
17 | g.80110767C>A | CA401366928 | GAA | c.1478C>A (p.Pro493His) | dbSNP |
17 | g.80110767C= | CA2277814079 | GAA | c.1478C= (p.Pro493=) | |
17 | g.80110767C>G | CA401366930 | GAA | c.1478C>G (p.Pro493Arg) | gnomAD v4 |
17 | g.80110767C>T | CA16608675 | GAA | c.1478C>T (p.Pro493Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110768C>A | CA502178545 | GAA | c.1479C>A (p.Pro493=) | |
17 | g.80110768C>G | CA502178547 | GAA | c.1479C>G (p.Pro493=) | |
17 | g.80110768C>T | CA502178546 | GAA | c.1479C>T (p.Pro493=) | gnomAD v4 |
17 | g.80110769A= | CA2277814080 | GAA | c.1480A= (p.Thr494=) | |
17 | g.80110769A>C | CA401366937 | GAA | c.1480A>C (p.Thr494Pro) | |
17 | g.80110769A>G | CA401366935 | GAA | c.1480A>G (p.Thr494Ala) | |
17 | g.80110769A>T | CA401366933 | GAA | c.1480A>T (p.Thr494Ser) | dbSNP |
17 | g.80110770C>A | CA401366938 | GAA | c.1481C>A (p.Thr494Lys) | gnomAD v4 |
17 | g.80110770C>G | CA401366941 | GAA | c.1481C>G (p.Thr494Arg) | |
17 | g.80110770C>T | CA401366943 | GAA | c.1481C>T (p.Thr494Ile) | gnomAD v4 |
17 | g.80110771A= | CA2277814081 | GAA | c.1482A= (p.Thr494=) | |
17 | g.80110771A>C | CA502178548 | GAA | c.1482A>C (p.Thr494=) | |
17 | g.80110771A>G | CA8815353 | GAA | c.1482A>G (p.Thr494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110771A>T | CA502178549 | GAA | c.1482A>T (p.Thr494=) | |
17 | g.80110772G>A | CA401366946 | GAA | c.1483G>A (p.Ala495Thr) | dbSNP COSMIC |
17 | g.80110772G>C | CA401366947 | GAA | c.1483G>C (p.Ala495Pro) | |
17 | g.80110772G>T | CA401366950 | GAA | c.1483G>T (p.Ala495Ser) | |
17 | g.80110773C>A | CA401366952 | GAA | c.1484C>A (p.Ala495Asp) | |
17 | g.80110773C= | CA2277814082 | GAA | c.1484C= (p.Ala495=) | |
17 | g.80110773C>G | CA401366954 | GAA | c.1484C>G (p.Ala495Gly) | |
17 | g.80110773C>T | CA401366956 | GAA | c.1484C>T (p.Ala495Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110774C>A | CA502178550 | GAA | c.1485C>A (p.Ala495=) | |
17 | g.80110774C= | CA2277814083 | GAA | c.1485C= (p.Ala495=) | |
17 | g.80110774C>G | CA502178551 | GAA | c.1485C>G (p.Ala495=) | |
17 | g.80110774C>T | CA8815354 | GAA | c.1485C>T (p.Ala495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110775C>A | CA401366959 | GAA | c.1486C>A (p.Leu496Met) | |
17 | g.80110775C= | CA2277814084 | GAA | c.1486C= (p.Leu496=) | |
17 | g.80110775C>G | CA401366961 | GAA | c.1486C>G (p.Leu496Val) | |
17 | g.80110775C>T | CA502178552 | GAA | c.1486C>T (p.Leu496=) | ClinVar dbSNP |
17 | g.80110776T>A | CA401366965 | GAA | c.1487T>A (p.Leu496Gln) | |
17 | g.80110776T>C | CA401366967 | GAA | c.1487T>C (p.Leu496Pro) | |
17 | g.80110776T>G | CA401366963 | GAA | c.1487T>G (p.Leu496Arg) | |
17 | g.80110777G>A | CA8815355 | GAA | c.1488G>A (p.Leu496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110777G>C | CA502178553 | GAA | c.1488G>C (p.Leu496=) | |
17 | g.80110777G= | CA2277814085 | GAA | c.1488G= (p.Leu496=) | |
17 | g.80110777G>T | CA502178554 | GAA | c.1488G>T (p.Leu496=) | |
17 | g.80110778G>A | CA401366970 | GAA | c.1489G>A (p.Ala497Thr) | |
17 | g.80110778G>C | CA401366972 | GAA | c.1489G>C (p.Ala497Pro) | gnomAD v4 |
17 | g.80110778G>T | CA401366973 | GAA | c.1489G>T (p.Ala497Ser) | |
17 | g.80110779C>A | CA401366975 | GAA | c.1490C>A (p.Ala497Asp) | |
17 | g.80110779C>G | CA401366977 | GAA | c.1490C>G (p.Ala497Gly) | COSMIC |
17 | g.80110779C>T | CA401366979 | GAA | c.1490C>T (p.Ala497Val) | |
17 | g.80110780C>A | CA502178555 | GAA | c.1491C>A (p.Ala497=) | |
17 | g.80110780C= | CA2277814086 | GAA | c.1491C= (p.Ala497=) | |
17 | g.80110780C>G | CA502178556 | GAA | c.1491C>G (p.Ala497=) | |
17 | g.80110780C>T | CA8815356 | GAA | c.1491C>T (p.Ala497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110781T>A | CA401366981 | GAA | c.1492T>A (p.Trp498Arg) | |
17 | g.80110781T>C | CA401366983 | GAA | c.1492T>C (p.Trp498Arg) | gnomAD v4 |
17 | g.80110781T>G | CA401366985 | GAA | c.1492T>G (p.Trp498Gly) | |
17 | g.80110782G>A | CA401366987 | GAA | c.1493G>A (p.Trp498Ter) | |
17 | g.80110782G>C | CA401366989 | GAA | c.1493G>C (p.Trp498Ser) | gnomAD v4 |
17 | g.80110782G>T | CA401366991 | GAA | c.1493G>T (p.Trp498Leu) | |
17 | g.80110783del | CA2695200355 | GAA | c.1494del (p.Trp498CysfsTer22) | ClinVar |
17 | g.80110783G>A | CA401366993 | GAA | c.1494G>A (p.Trp498Ter) | ClinVar dbSNP |
17 | g.80110783G>C | CA401366996 | GAA | c.1494G>C (p.Trp498Cys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110783G= | CA2277814087 | GAA | c.1494G= (p.Trp498=) | |
17 | g.80110783G>T | CA401366994 | GAA | c.1494G>T (p.Trp498Cys) | |
17 | g.80110784T>A | CA198789 | GAA | c.1495T>A (p.Trp499Arg) | dbSNP |
17 | g.80110784T>C | CA401366999 | GAA | c.1495T>C (p.Trp499Arg) | |
17 | g.80110784T>G | CA401367001 | GAA | c.1495T>G (p.Trp499Gly) | |
17 | g.80110784T= | CA2277814088 | GAA | c.1495T= (p.Trp499=) | |
17 | g.80110785G>A | CA8815357 | GAA | c.1496G>A (p.Trp499Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110785G>C | CA401367003 | GAA | c.1496G>C (p.Trp499Ser) | |
17 | g.80110785G= | CA2277814089 | GAA | c.1496G= (p.Trp499=) | |
17 | g.80110785G>T | CA401367005 | GAA | c.1496G>T (p.Trp499Leu) | |
17 | g.80110786G>A | CA401367008 | GAA | c.1497G>A (p.Trp499Ter) | ClinVar |
17 | g.80110786G>C | CA401367009 | GAA | c.1497G>C (p.Trp499Cys) | |
17 | g.80110786G>T | CA401367011 | GAA | c.1497G>T (p.Trp499Cys) | |
17 | g.80110786_80110801delinsGGAGGACATGGTGGCT | CA2277814090 | GAA | c.1497_1512delinsGGAGGACATGGTGGCT (p.Trp499=) | |
17 | g.80110787G>A | CA401367013 | GAA | c.1498G>A (p.Glu500Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110787G>C | CA401367015 | GAA | c.1498G>C (p.Glu500Gln) | |
17 | g.80110787G= | CA2277814091 | GAA | c.1498G= (p.Glu500=) | |
17 | g.80110787G>T | CA401367017 | GAA | c.1498G>T (p.Glu500Ter) | |
17 | g.80110790_80110804del | CA16620647 | GAA | c.1501_1515del (p.Asp501_Glu505del) | ClinVar dbSNP gnomAD v4 |
17 | g.80110788A= | CA2277814092 | GAA | c.1499A= (p.Glu500=) | |
17 | g.80110788A>C | CA401367020 | GAA | c.1499A>C (p.Glu500Ala) | |
17 | g.80110788A>G | CA401367022 | GAA | c.1499A>G (p.Glu500Gly) | dbSNP gnomAD v4 |
17 | g.80110788A>T | CA401367021 | GAA | c.1499A>T (p.Glu500Val) | |
17 | g.80110789G>A | CA294894891 | GAA | c.1500G>A (p.Glu500=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110789G>C | CA401367024 | GAA | c.1500G>C (p.Glu500Asp) | gnomAD v4 |
17 | g.80110789G= | CA2277814093 | GAA | c.1500G= (p.Glu500=) | |
17 | g.80110789G>T | CA401367026 | GAA | c.1500G>T (p.Glu500Asp) | |
17 | g.80110790G>A | CA401367028 | GAA | c.1501G>A (p.Asp501Asn) | |
17 | g.80110790G>C | CA401367029 | GAA | c.1501G>C (p.Asp501His) | |
17 | g.80110790G>T | CA401367031 | GAA | c.1501G>T (p.Asp501Tyr) | |
17 | g.80110791A>C | CA401367033 | GAA | c.1502A>C (p.Asp501Ala) | |
17 | g.80110791A>G | CA401367034 | GAA | c.1502A>G (p.Asp501Gly) | ClinVar dbSNP COSMIC |
17 | g.80110791A>T | CA401367036 | GAA | c.1502A>T (p.Asp501Val) | |
17 | g.80110792C>A | CA401367038 | GAA | c.1503C>A (p.Asp501Glu) | |
17 | g.80110792C>G | CA401367040 | GAA | c.1503C>G (p.Asp501Glu) | |
17 | g.80110792C>T | CA502178563 | GAA | c.1503C>T (p.Asp501=) | |
17 | g.80110793A= | CA2277814094 | GAA | c.1504A= (p.Met502=) | |
17 | g.80110793A>C | CA401367042 | GAA | c.1504A>C (p.Met502Leu) | gnomAD v4 |
17 | g.80110793A>G | CA8815358 | GAA | c.1504A>G (p.Met502Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110793A>T | CA401367045 | GAA | c.1504A>T (p.Met502Leu) | |
17 | g.80110793_80110796delinsATGG | CA2277814095 | GAA | c.1504_1507delinsATGG (p.Met502=) | |
17 | g.80110794T>A | CA401367051 | GAA | c.1505T>A (p.Met502Lys) | |
17 | g.80110794T>C | CA401367048 | GAA | c.1505T>C (p.Met502Thr) | dbSNP |
17 | g.80110794T>G | CA401367049 | GAA | c.1505T>G (p.Met502Arg) | dbSNP |
17 | g.80110794T= | CA2277814096 | GAA | c.1505T= (p.Met502=) | |
17 | g.80110797_80110799del | CA627699576 | GAA | c.1508_1510del (p.Val503del) | dbSNP gnomAD v2 |
17 | g.80110795G>A | CA401367053 | GAA | c.1506G>A (p.Met502Ile) | |
17 | g.80110795G>C | CA401367055 | GAA | c.1506G>C (p.Met502Ile) | |
17 | g.80110795G>T | CA401367057 | GAA | c.1506G>T (p.Met502Ile) | |
17 | g.80110796del | CA2695227094 | GAA | c.1507del (p.Val503TrpfsTer17) | |
17 | g.80110796G>A | CA401367059 | GAA | c.1507G>A (p.Val503Met) | |
17 | g.80110796G>C | CA401367061 | GAA | c.1507G>C (p.Val503Leu) | |
17 | g.80110796G>T | CA401367063 | GAA | c.1507G>T (p.Val503Leu) | |
17 | g.80110797T>A | CA401367065 | GAA | c.1508T>A (p.Val503Glu) | |
17 | g.80110797T>C | CA401367066 | GAA | c.1508T>C (p.Val503Ala) | ClinVar |
17 | g.80110797T>G | CA401367067 | GAA | c.1508T>G (p.Val503Gly) | |
17 | g.80110798G>A | CA502178573 | GAA | c.1509G>A (p.Val503=) | ClinVar dbSNP gnomAD v4 |
17 | g.80110798G>C | CA502178572 | GAA | c.1509G>C (p.Val503=) | |
17 | g.80110798G>T | CA502178571 | GAA | c.1509G>T (p.Val503=) | |
17 | g.80110798_80110800del | CA658795258 | GAA | c.1509_1511del (p.Ala504del) | |
17 | g.80110799G>A | CA401367068 | GAA | c.1510G>A (p.Ala504Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.80110799G>C | CA401367069 | GAA | c.1510G>C (p.Ala504Pro) | |
17 | g.80110799G>T | CA401367070 | GAA | c.1510G>T (p.Ala504Ser) | gnomAD v4 |
17 | g.80110800C>A | CA401367072 | GAA | c.1511C>A (p.Ala504Asp) | |
17 | g.80110800C>G | CA401367073 | GAA | c.1511C>G (p.Ala504Gly) | |
17 | g.80110800C>T | CA401367071 | GAA | c.1511C>T (p.Ala504Val) | gnomAD v4 |
17 | g.80110801T>A | CA502178575 | GAA | c.1512T>A (p.Ala504=) | |
17 | g.80110801T>C | CA502178576 | GAA | c.1512T>C (p.Ala504=) | |
17 | g.80110801T>G | CA502178577 | GAA | c.1512T>G (p.Ala504=) | |
17 | g.80110802G>A | CA401367075 | GAA | c.1513G>A (p.Glu505Lys) | |
17 | g.80110802G>C | CA401367074 | GAA | c.1513G>C (p.Glu505Gln) | |
17 | g.80110802G>T | CA401367076 | GAA | c.1513G>T (p.Glu505Ter) | gnomAD v4 |
17 | g.80110803A= | CA2277814097 | GAA | c.1514A= (p.Glu505=) | |
17 | g.80110803A>C | CA401367077 | GAA | c.1514A>C (p.Glu505Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110803A>G | CA401367078 | GAA | c.1514A>G (p.Glu505Gly) | |
17 | g.80110803A>T | CA401367079 | GAA | c.1514A>T (p.Glu505Val) | |
17 | g.80110804G>A | CA502178578 | GAA | c.1515G>A (p.Glu505=) | gnomAD v4 |
17 | g.80110804G>C | CA401367080 | GAA | c.1515G>C (p.Glu505Asp) | |
17 | g.80110804G>T | CA401367081 | GAA | c.1515G>T (p.Glu505Asp) | |
17 | g.80110805T>A | CA401367082 | GAA | c.1516T>A (p.Phe506Ile) | |
17 | g.80110805T>C | CA401367083 | GAA | c.1516T>C (p.Phe506Leu) | |
17 | g.80110805T>G | CA401367084 | GAA | c.1516T>G (p.Phe506Val) | |
17 | g.80110806T>A | CA401367085 | GAA | c.1517T>A (p.Phe506Tyr) | |
17 | g.80110806T>C | CA401367086 | GAA | c.1517T>C (p.Phe506Ser) | |
17 | g.80110806T>G | CA401367087 | GAA | c.1517T>G (p.Phe506Cys) | |
17 | g.80110806T= | CA2277814098 | GAA | c.1517T= (p.Phe506=) | |
17 | g.80110807C>A | CA401367088 | GAA | c.1518C>A (p.Phe506Leu) | |
17 | g.80110807C= | CA2277814099 | GAA | c.1518C= (p.Phe506=) | |
17 | g.80110807C>G | CA401367089 | GAA | c.1518C>G (p.Phe506Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110807C>T | CA502178579 | GAA | c.1518C>T (p.Phe506=) | ClinVar dbSNP |
17 | g.80110808dup | CA1139665922 | GAA | c.1519dup (p.His507ProfsTer2) | ClinVar dbSNP |
17 | g.80110808C>A | CA401367090 | GAA | c.1519C>A (p.His507Asn) | |
17 | g.80110808C>G | CA401367092 | GAA | c.1519C>G (p.His507Asp) | |
17 | g.80110808C>T | CA401367091 | GAA | c.1519C>T (p.His507Tyr) | gnomAD v4 |
17 | g.80110809A>C | CA401367093 | GAA | c.1520A>C (p.His507Pro) | |
17 | g.80110809A>G | CA401367094 | GAA | c.1520A>G (p.His507Arg) | |
17 | g.80110809A>T | CA401367095 | GAA | c.1520A>T (p.His507Leu) | |
17 | g.80110810T>A | CA401367096 | GAA | c.1521T>A (p.His507Gln) | |
17 | g.80110810T>C | CA294894897 | GAA | c.1521T>C (p.His507=) | dbSNP gnomAD v4 |
17 | g.80110810T>G | CA401367097 | GAA | c.1521T>G (p.His507Gln) | |
17 | g.80110810T= | CA2277814100 | GAA | c.1521T= (p.His507=) | |
17 | g.80110811G>A | CA401367098 | GAA | c.1522G>A (p.Asp508Asn) | |
17 | g.80110811G>C | CA401367099 | GAA | c.1522G>C (p.Asp508His) | |
17 | g.80110811G>T | CA401367100 | GAA | c.1522G>T (p.Asp508Tyr) | dbSNP gnomAD v4 |
17 | g.80110812A>C | CA401367101 | GAA | c.1523A>C (p.Asp508Ala) | |
17 | g.80110812A>G | CA401367102 | GAA | c.1523A>G (p.Asp508Gly) | |
17 | g.80110812A>T | CA401367103 | GAA | c.1523A>T (p.Asp508Val) | |
17 | g.80110813C>A | CA401367105 | GAA | c.1524C>A (p.Asp508Glu) | |
17 | g.80110813C>G | CA401367104 | GAA | c.1524C>G (p.Asp508Glu) | |
17 | g.80110813C>T | CA502178584 | GAA | c.1524C>T (p.Asp508=) | gnomAD v4 |
17 | g.80110814C>A | CA401367106 | GAA | c.1525C>A (p.Gln509Lys) | |
17 | g.80110814C>G | CA401367108 | GAA | c.1525C>G (p.Gln509Glu) | |
17 | g.80110814C>T | CA401367107 | GAA | c.1525C>T (p.Gln509Ter) | ClinVar |
17 | g.80110815A= | CA2277814101 | GAA | c.1526A= (p.Gln509=) | |
17 | g.80110815A>C | CA401367109 | GAA | c.1526A>C (p.Gln509Pro) | |
17 | g.80110815A>G | CA401367110 | GAA | c.1526A>G (p.Gln509Arg) | |
17 | g.80110815A>T | CA401367111 | GAA | c.1526A>T (p.Gln509Leu) | dbSNP |
17 | g.80110816G>A | CA502178586 | GAA | c.1527G>A (p.Gln509=) | ClinVar |
17 | g.80110816G>C | CA401367112 | GAA | c.1527G>C (p.Gln509His) | |
17 | g.80110816G>T | CA401367113 | GAA | c.1527G>T (p.Gln509His) | |
17 | g.80110817G>A | CA401367114 | GAA | c.1528G>A (p.Val510Met) | gnomAD v4 |
17 | g.80110817G>C | CA401367115 | GAA | c.1528G>C (p.Val510Leu) | |
17 | g.80110817G>T | CA401367116 | GAA | c.1528G>T (p.Val510Leu) | |
17 | g.80110818T>A | CA401367117 | GAA | c.1529T>A (p.Val510Glu) | |
17 | g.80110818T>C | CA401367118 | GAA | c.1529T>C (p.Val510Ala) | |
17 | g.80110818T>G | CA294894901 | GAA | c.1529T>G (p.Val510Gly) | dbSNP |
17 | g.80110818T= | CA2277814102 | GAA | c.1529T= (p.Val510=) | |
17 | g.80110819G>A | CA502178591 | GAA | c.1530G>A (p.Val510=) | dbSNP |
17 | g.80110819G>C | CA502178593 | GAA | c.1530G>C (p.Val510=) | |
17 | g.80110819G>T | CA502178594 | GAA | c.1530G>T (p.Val510=) | |
17 | g.80110820C>A | CA401367121 | GAA | c.1531C>A (p.Pro511Thr) | |
17 | g.80110820C>G | CA401367120 | GAA | c.1531C>G (p.Pro511Ala) | |
17 | g.80110820C>T | CA401367119 | GAA | c.1531C>T (p.Pro511Ser) | gnomAD v4 |