Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.10296597A>C | CA338315537 | KIF1B | c.*827A>C (n.*827A>C) c.1655A>C (p.Glu552Ala) c.1718A>C (p.Glu573Ala) c.1793A>C (p.Glu598Ala) c.1751A>C (p.Glu584Ala) c.1715A>C (p.Glu572Ala) | |
1 | g.10296597A>G | CA338315536 | KIF1B | c.*827A>G (n.*827A>G) c.1655A>G (p.Glu552Gly) c.1718A>G (p.Glu573Gly) c.1793A>G (p.Glu598Gly) c.1751A>G (p.Glu584Gly) c.1715A>G (p.Glu572Gly) | |
1 | g.10296597A>T | CA338315534 | KIF1B | c.*827A>T (n.*827A>T) c.1655A>T (p.Glu552Val) c.1718A>T (p.Glu573Val) c.1793A>T (p.Glu598Val) c.1751A>T (p.Glu584Val) c.1715A>T (p.Glu572Val) | |
1 | g.10296598G>A | CA415880008 | KIF1B | c.*828G>A (n.*828G>A) c.1656G>A (p.Glu552=) c.1719G>A (p.Glu573=) c.1794G>A (p.Glu598=) c.1752G>A (p.Glu584=) c.1716G>A (p.Glu572=) | gnomAD v4 |
1 | g.10296598G>C | CA338315541 | KIF1B | c.*828G>C (n.*828G>C) c.1656G>C (p.Glu552Asp) c.1719G>C (p.Glu573Asp) c.1794G>C (p.Glu598Asp) c.1752G>C (p.Glu584Asp) c.1716G>C (p.Glu572Asp) | |
1 | g.10296598G= | CA1153149498 | KIF1B | c.*828G= (n.*828G=) c.1656G= (p.Glu552=) c.1719G= (p.Glu573=) c.1794G= (p.Glu598=) c.1752G= (p.Glu584=) c.1716G= (p.Glu572=) | |
1 | g.10296598G>T | CA581092 | KIF1B | c.*828G>T (n.*828G>T) c.1656G>T (p.Glu552Asp) c.1719G>T (p.Glu573Asp) c.1794G>T (p.Glu598Asp) c.1752G>T (p.Glu584Asp) c.1716G>T (p.Glu572Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296599C>A | CA338315547 | KIF1B | c.*829C>A (n.*829C>A) c.1657C>A (p.Pro553Thr) c.1720C>A (p.Pro574Thr) c.1795C>A (p.Pro599Thr) c.1753C>A (p.Pro585Thr) c.1717C>A (p.Pro573Thr) | COSMIC COSMIC |
1 | g.10296599C>G | CA338315548 | KIF1B | c.*829C>G (n.*829C>G) c.1657C>G (p.Pro553Ala) c.1720C>G (p.Pro574Ala) c.1795C>G (p.Pro599Ala) c.1753C>G (p.Pro585Ala) c.1717C>G (p.Pro573Ala) | |
1 | g.10296599C>T | CA338315549 | KIF1B | c.*829C>T (n.*829C>T) c.1657C>T (p.Pro553Ser) c.1720C>T (p.Pro574Ser) c.1795C>T (p.Pro599Ser) c.1753C>T (p.Pro585Ser) c.1717C>T (p.Pro573Ser) | gnomAD v4 |
1 | g.10296601del | CA2643178599 | KIF1B | c.*831del (n.*831del) c.1659del (p.Cys554ValfsTer8) c.1722del (p.Cys575ValfsTer8) c.1797del (p.Cys600ValfsTer8) c.1755del (p.Cys586ValfsTer8) c.1719del (p.Cys574ValfsTer8) | gnomAD v4 |
1 | g.10296600C>A | CA338315553 | KIF1B | c.*830C>A (n.*830C>A) c.1658C>A (p.Pro553His) c.1721C>A (p.Pro574His) c.1796C>A (p.Pro599His) c.1754C>A (p.Pro585His) c.1718C>A (p.Pro573His) | |
1 | g.10296600C>G | CA338315557 | KIF1B | c.*830C>G (n.*830C>G) c.1658C>G (p.Pro553Arg) c.1721C>G (p.Pro574Arg) c.1796C>G (p.Pro599Arg) c.1754C>G (p.Pro585Arg) c.1718C>G (p.Pro573Arg) | |
1 | g.10296600C>T | CA338315560 | KIF1B | c.*830C>T (n.*830C>T) c.1658C>T (p.Pro553Leu) c.1721C>T (p.Pro574Leu) c.1796C>T (p.Pro599Leu) c.1754C>T (p.Pro585Leu) c.1718C>T (p.Pro573Leu) | COSMIC COSMIC |
1 | g.10296601C>A | CA415880012 | KIF1B | c.*831C>A (n.*831C>A) c.1659C>A (p.Pro553=) c.1722C>A (p.Pro574=) c.1797C>A (p.Pro599=) c.1755C>A (p.Pro585=) c.1719C>A (p.Pro573=) | |
1 | g.10296601C= | CA1153149504 | KIF1B | c.*831C= (n.*831C=) c.1659C= (p.Pro553=) c.1722C= (p.Pro574=) c.1797C= (p.Pro599=) c.1755C= (p.Pro585=) c.1719C= (p.Pro573=) | |
1 | g.10296601C>G | CA415880011 | KIF1B | c.*831C>G (n.*831C>G) c.1659C>G (p.Pro553=) c.1722C>G (p.Pro574=) c.1797C>G (p.Pro599=) c.1755C>G (p.Pro585=) c.1719C>G (p.Pro573=) | |
1 | g.10296601C>T | CA415880010 | KIF1B | c.*831C>T (n.*831C>T) c.1659C>T (p.Pro553=) c.1722C>T (p.Pro574=) c.1797C>T (p.Pro599=) c.1755C>T (p.Pro585=) c.1719C>T (p.Pro573=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10296602T>A | CA338315569 | KIF1B | c.*832T>A (n.*832T>A) c.1660T>A (p.Cys554Ser) c.1723T>A (p.Cys575Ser) c.1798T>A (p.Cys600Ser) c.1756T>A (p.Cys586Ser) c.1720T>A (p.Cys574Ser) | |
1 | g.10296602T>C | CA338315574 | KIF1B | c.*832T>C (n.*832T>C) c.1660T>C (p.Cys554Arg) c.1723T>C (p.Cys575Arg) c.1798T>C (p.Cys600Arg) c.1756T>C (p.Cys586Arg) c.1720T>C (p.Cys574Arg) | dbSNP gnomAD v4 |
1 | g.10296602T>G | CA338315577 | KIF1B | c.*832T>G (n.*832T>G) c.1660T>G (p.Cys554Gly) c.1723T>G (p.Cys575Gly) c.1798T>G (p.Cys600Gly) c.1756T>G (p.Cys586Gly) c.1720T>G (p.Cys574Gly) | |
1 | g.10296602T= | CA1153149507 | KIF1B | c.*832T= (n.*832T=) c.1660T= (p.Cys554=) c.1723T= (p.Cys575=) c.1798T= (p.Cys600=) c.1756T= (p.Cys586=) c.1720T= (p.Cys574=) | |
1 | g.10296603G>A | CA338315588 | KIF1B | c.*833G>A (n.*833G>A) c.1661G>A (p.Cys554Tyr) c.1724G>A (p.Cys575Tyr) c.1799G>A (p.Cys600Tyr) c.1757G>A (p.Cys586Tyr) c.1721G>A (p.Cys574Tyr) | gnomAD v4 |
1 | g.10296603G>C | CA338315592 | KIF1B | c.*833G>C (n.*833G>C) c.1661G>C (p.Cys554Ser) c.1724G>C (p.Cys575Ser) c.1799G>C (p.Cys600Ser) c.1757G>C (p.Cys586Ser) c.1721G>C (p.Cys574Ser) | gnomAD v4 |
1 | g.10296603G>T | CA338315593 | KIF1B | c.*833G>T (n.*833G>T) c.1661G>T (p.Cys554Phe) c.1724G>T (p.Cys575Phe) c.1799G>T (p.Cys600Phe) c.1757G>T (p.Cys586Phe) c.1721G>T (p.Cys574Phe) | |
1 | g.10296604T>A | CA338315594 | KIF1B | c.*834T>A (n.*834T>A) c.1662T>A (p.Cys554Ter) c.1725T>A (p.Cys575Ter) c.1800T>A (p.Cys600Ter) c.1758T>A (p.Cys586Ter) c.1722T>A (p.Cys574Ter) | |
1 | g.10296604T>C | CA415880016 | KIF1B | c.*834T>C (n.*834T>C) c.1662T>C (p.Cys554=) c.1725T>C (p.Cys575=) c.1800T>C (p.Cys600=) c.1758T>C (p.Cys586=) c.1722T>C (p.Cys574=) | |
1 | g.10296604T>G | CA338315595 | KIF1B | c.*834T>G (n.*834T>G) c.1662T>G (p.Cys554Trp) c.1725T>G (p.Cys575Trp) c.1800T>G (p.Cys600Trp) c.1758T>G (p.Cys586Trp) c.1722T>G (p.Cys574Trp) | |
1 | g.10296605G>A | CA338315596 | KIF1B | c.*835G>A (n.*835G>A) c.1663G>A (p.Glu555Lys) c.1726G>A (p.Glu576Lys) c.1801G>A (p.Glu601Lys) c.1759G>A (p.Glu587Lys) c.1723G>A (p.Glu575Lys) | |
1 | g.10296605G>C | CA17813569 | KIF1B | c.*835G>C (n.*835G>C) c.1663G>C (p.Glu555Gln) c.1726G>C (p.Glu576Gln) c.1801G>C (p.Glu601Gln) c.1759G>C (p.Glu587Gln) c.1723G>C (p.Glu575Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296605G= | CA1153149509 | KIF1B | c.*835G= (n.*835G=) c.1663G= (p.Glu555=) c.1726G= (p.Glu576=) c.1801G= (p.Glu601=) c.1759G= (p.Glu587=) c.1723G= (p.Glu575=) | |
1 | g.10296605G>T | CA338315607 | KIF1B | c.*835G>T (n.*835G>T) c.1663G>T (p.Glu555Ter) c.1726G>T (p.Glu576Ter) c.1801G>T (p.Glu601Ter) c.1759G>T (p.Glu587Ter) c.1723G>T (p.Glu575Ter) | |
1 | g.10296606A>C | CA338315608 | KIF1B | c.*836A>C (n.*836A>C) c.1664A>C (p.Glu555Ala) c.1727A>C (p.Glu576Ala) c.1802A>C (p.Glu601Ala) c.1760A>C (p.Glu587Ala) c.1724A>C (p.Glu575Ala) | |
1 | g.10296606A>G | CA338315609 | KIF1B | c.*836A>G (n.*836A>G) c.1664A>G (p.Glu555Gly) c.1727A>G (p.Glu576Gly) c.1802A>G (p.Glu601Gly) c.1760A>G (p.Glu587Gly) c.1724A>G (p.Glu575Gly) | ClinVar dbSNP |
1 | g.10296606A>T | CA338315610 | KIF1B | c.*836A>T (n.*836A>T) c.1664A>T (p.Glu555Val) c.1727A>T (p.Glu576Val) c.1802A>T (p.Glu601Val) c.1760A>T (p.Glu587Val) c.1724A>T (p.Glu575Val) | |
1 | g.10296606_10296607delinsAG | CA1153149514 | KIF1B | c.*836_*837delinsAG (n.*836_*837delinsAG) c.1664_1665delinsAG (p.Glu555=) c.1727_1728delinsAG (p.Glu576=) c.1802_1803delinsAG (p.Glu601=) c.1760_1761delinsAG (p.Glu587=) c.1724_1725delinsAG (p.Glu575=) | |
1 | g.10296607del | CA1153149516 | KIF1B | c.*837del (n.*837del) c.1665del (p.Glu555AspfsTer7) c.1728del (p.Glu576AspfsTer7) c.1803del (p.Glu601AspfsTer7) c.1761del (p.Glu587AspfsTer7) c.1725del (p.Glu575AspfsTer7) | dbSNP |
1 | g.10296607G>A | CA415880021 | KIF1B | c.*837G>A (n.*837G>A) c.1665G>A (p.Glu555=) c.1728G>A (p.Glu576=) c.1803G>A (p.Glu601=) c.1761G>A (p.Glu587=) c.1725G>A (p.Glu575=) | ClinVar dbSNP gnomAD v2 |
1 | g.10296607G>C | CA338315612 | KIF1B | c.*837G>C (n.*837G>C) c.1665G>C (p.Glu555Asp) c.1728G>C (p.Glu576Asp) c.1803G>C (p.Glu601Asp) c.1761G>C (p.Glu587Asp) c.1725G>C (p.Glu575Asp) | |
1 | g.10296607G= | CA1153149517 | KIF1B | c.*837G= (n.*837G=) c.1665G= (p.Glu555=) c.1728G= (p.Glu576=) c.1803G= (p.Glu601=) c.1761G= (p.Glu587=) c.1725G= (p.Glu575=) | |
1 | g.10296607G>T | CA338315613 | KIF1B | c.*837G>T (n.*837G>T) c.1665G>T (p.Glu555Asp) c.1728G>T (p.Glu576Asp) c.1803G>T (p.Glu601Asp) c.1761G>T (p.Glu587Asp) c.1725G>T (p.Glu575Asp) | |
1 | g.10296608C>A | CA338315617 | KIF1B | c.*838C>A (n.*838C>A) c.1666C>A (p.Arg556Ser) c.1729C>A (p.Arg577Ser) c.1804C>A (p.Arg602Ser) c.1762C>A (p.Arg588Ser) c.1726C>A (p.Arg576Ser) | gnomAD v4 |
1 | g.10296608C= | CA1153149521 | KIF1B | c.*838C= (n.*838C=) c.1666C= (p.Arg556=) c.1729C= (p.Arg577=) c.1804C= (p.Arg602=) c.1762C= (p.Arg588=) c.1726C= (p.Arg576=) | |
1 | g.10296608C>G | CA338315621 | KIF1B | c.*838C>G (n.*838C>G) c.1666C>G (p.Arg556Gly) c.1729C>G (p.Arg577Gly) c.1804C>G (p.Arg602Gly) c.1762C>G (p.Arg588Gly) c.1726C>G (p.Arg576Gly) | |
1 | g.10296608C>T | CA581093 | KIF1B | c.*838C>T (n.*838C>T) c.1666C>T (p.Arg556Cys) c.1729C>T (p.Arg577Cys) c.1804C>T (p.Arg602Cys) c.1762C>T (p.Arg588Cys) c.1726C>T (p.Arg576Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296609G>A | CA338315653 | KIF1B | c.*839G>A (n.*839G>A) c.1667G>A (p.Arg556His) c.1730G>A (p.Arg577His) c.1805G>A (p.Arg602His) c.1763G>A (p.Arg588His) c.1727G>A (p.Arg576His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10296609G>C | CA338315656 | KIF1B | c.*839G>C (n.*839G>C) c.1667G>C (p.Arg556Pro) c.1730G>C (p.Arg577Pro) c.1805G>C (p.Arg602Pro) c.1763G>C (p.Arg588Pro) c.1727G>C (p.Arg576Pro) | dbSNP gnomAD v4 |
1 | g.10296609G= | CA1153149524 | KIF1B | c.*839G= (n.*839G=) c.1667G= (p.Arg556=) c.1730G= (p.Arg577=) c.1805G= (p.Arg602=) c.1763G= (p.Arg588=) c.1727G= (p.Arg576=) | |
1 | g.10296609G>T | CA338315649 | KIF1B | c.*839G>T (n.*839G>T) c.1667G>T (p.Arg556Leu) c.1730G>T (p.Arg577Leu) c.1805G>T (p.Arg602Leu) c.1763G>T (p.Arg588Leu) c.1727G>T (p.Arg576Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10296610C>A | CA415880029 | KIF1B | c.*840C>A (n.*840C>A) c.1668C>A (p.Arg556=) c.1731C>A (p.Arg577=) c.1806C>A (p.Arg602=) c.1764C>A (p.Arg588=) c.1728C>A (p.Arg576=) | |
1 | g.10296610C>G | CA415880030 | KIF1B | c.*840C>G (n.*840C>G) c.1668C>G (p.Arg556=) c.1731C>G (p.Arg577=) c.1806C>G (p.Arg602=) c.1764C>G (p.Arg588=) c.1728C>G (p.Arg576=) | |
1 | g.10296610C>T | CA415880031 | KIF1B | c.*840C>T (n.*840C>T) c.1668C>T (p.Arg556=) c.1731C>T (p.Arg577=) c.1806C>T (p.Arg602=) c.1764C>T (p.Arg588=) c.1728C>T (p.Arg576=) | |
1 | g.10296611T>A | CA338315660 | KIF1B | c.*841T>A (n.*841T>A) c.1669T>A (p.Ser557Thr) c.1732T>A (p.Ser578Thr) c.1807T>A (p.Ser603Thr) c.1765T>A (p.Ser589Thr) c.1729T>A (p.Ser577Thr) | gnomAD v4 |
1 | g.10296611T>C | CA338315661 | KIF1B | c.*841T>C (n.*841T>C) c.1669T>C (p.Ser557Pro) c.1732T>C (p.Ser578Pro) c.1807T>C (p.Ser603Pro) c.1765T>C (p.Ser589Pro) c.1729T>C (p.Ser577Pro) | |
1 | g.10296611T>G | CA338315662 | KIF1B | c.*841T>G (n.*841T>G) c.1669T>G (p.Ser557Ala) c.1732T>G (p.Ser578Ala) c.1807T>G (p.Ser603Ala) c.1765T>G (p.Ser589Ala) c.1729T>G (p.Ser577Ala) | |
1 | g.10296612C>A | CA338315663 | KIF1B | c.*842C>A (n.*842C>A) c.1670C>A (p.Ser557Ter) c.1733C>A (p.Ser578Ter) c.1808C>A (p.Ser603Ter) c.1766C>A (p.Ser589Ter) c.1730C>A (p.Ser577Ter) | dbSNP gnomAD v4 |
1 | g.10296612C= | CA1153149526 | KIF1B | c.*842C= (n.*842C=) c.1670C= (p.Ser557=) c.1733C= (p.Ser578=) c.1808C= (p.Ser603=) c.1766C= (p.Ser589=) c.1730C= (p.Ser577=) | |
1 | g.10296612C>G | CA338315664 | KIF1B | c.*842C>G (n.*842C>G) c.1670C>G (p.Ser557Ter) c.1733C>G (p.Ser578Ter) c.1808C>G (p.Ser603Ter) c.1766C>G (p.Ser589Ter) c.1730C>G (p.Ser577Ter) | |
1 | g.10296612C>T | CA338315665 | KIF1B | c.*842C>T (n.*842C>T) c.1670C>T (p.Ser557Leu) c.1733C>T (p.Ser578Leu) c.1808C>T (p.Ser603Leu) c.1766C>T (p.Ser589Leu) c.1730C>T (p.Ser577Leu) | |
1 | g.10296613A>C | CA415880033 | KIF1B | c.*843A>C (n.*843A>C) c.1671A>C (p.Ser557=) c.1734A>C (p.Ser578=) c.1809A>C (p.Ser603=) c.1767A>C (p.Ser589=) c.1731A>C (p.Ser577=) | ClinVar gnomAD v4 |
1 | g.10296613A>G | CA415880034 | KIF1B | c.*843A>G (n.*843A>G) c.1671A>G (p.Ser557=) c.1734A>G (p.Ser578=) c.1809A>G (p.Ser603=) c.1767A>G (p.Ser589=) c.1731A>G (p.Ser577=) | |
1 | g.10296613A>T | CA415880035 | KIF1B | c.*843A>T (n.*843A>T) c.1671A>T (p.Ser557=) c.1734A>T (p.Ser578=) c.1809A>T (p.Ser603=) c.1767A>T (p.Ser589=) c.1731A>T (p.Ser577=) | |
1 | g.10296614G>A | CA338315681 | KIF1B | c.*844G>A (n.*844G>A) c.1672G>A (p.Glu558Lys) c.1735G>A (p.Glu579Lys) c.1810G>A (p.Glu604Lys) c.1768G>A (p.Glu590Lys) c.1732G>A (p.Glu578Lys) | |
1 | g.10296614G>C | CA338315669 | KIF1B | c.*844G>C (n.*844G>C) c.1672G>C (p.Glu558Gln) c.1735G>C (p.Glu579Gln) c.1810G>C (p.Glu604Gln) c.1768G>C (p.Glu590Gln) c.1732G>C (p.Glu578Gln) | |
1 | g.10296614G>T | CA338315672 | KIF1B | c.*844G>T (n.*844G>T) c.1672G>T (p.Glu558Ter) c.1735G>T (p.Glu579Ter) c.1810G>T (p.Glu604Ter) c.1768G>T (p.Glu590Ter) c.1732G>T (p.Glu578Ter) | |
1 | g.10296615A>C | CA338315686 | KIF1B | c.*845A>C (n.*845A>C) c.1673A>C (p.Glu558Ala) c.1736A>C (p.Glu579Ala) c.1811A>C (p.Glu604Ala) c.1769A>C (p.Glu590Ala) c.1733A>C (p.Glu578Ala) | |
1 | g.10296615A>G | CA338315689 | KIF1B | c.*845A>G (n.*845A>G) c.1673A>G (p.Glu558Gly) c.1736A>G (p.Glu579Gly) c.1811A>G (p.Glu604Gly) c.1769A>G (p.Glu590Gly) c.1733A>G (p.Glu578Gly) | |
1 | g.10296615A>T | CA338315698 | KIF1B | c.*845A>T (n.*845A>T) c.1673A>T (p.Glu558Val) c.1736A>T (p.Glu579Val) c.1811A>T (p.Glu604Val) c.1769A>T (p.Glu590Val) c.1733A>T (p.Glu578Val) | |
1 | g.10296616A>C | CA338315701 | KIF1B | c.*846A>C (n.*846A>C) c.1674A>C (p.Glu558Asp) c.1737A>C (p.Glu579Asp) c.1812A>C (p.Glu604Asp) c.1770A>C (p.Glu590Asp) c.1734A>C (p.Glu578Asp) | |
1 | g.10296616A>G | CA415880038 | KIF1B | c.*846A>G (n.*846A>G) c.1674A>G (p.Glu558=) c.1737A>G (p.Glu579=) c.1812A>G (p.Glu604=) c.1770A>G (p.Glu590=) c.1734A>G (p.Glu578=) | |
1 | g.10296616A>T | CA338315705 | KIF1B | c.*846A>T (n.*846A>T) c.1674A>T (p.Glu558Asp) c.1737A>T (p.Glu579Asp) c.1812A>T (p.Glu604Asp) c.1770A>T (p.Glu590Asp) c.1734A>T (p.Glu578Asp) | |
1 | g.10296617A= | CA1153149529 | KIF1B | c.*847A= (n.*847A=) c.1675A= (p.Thr559=) c.1738A= (p.Thr580=) c.1813A= (p.Thr605=) c.1771A= (p.Thr591=) c.1735A= (p.Thr579=) | |
1 | g.10296617A>C | CA338315708 | KIF1B | c.*847A>C (n.*847A>C) c.1675A>C (p.Thr559Pro) c.1738A>C (p.Thr580Pro) c.1813A>C (p.Thr605Pro) c.1771A>C (p.Thr591Pro) c.1735A>C (p.Thr579Pro) | |
1 | g.10296617A>G | CA581094 | KIF1B | c.*847A>G (n.*847A>G) c.1675A>G (p.Thr559Ala) c.1738A>G (p.Thr580Ala) c.1813A>G (p.Thr605Ala) c.1771A>G (p.Thr591Ala) c.1735A>G (p.Thr579Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296617A>T | CA338315710 | KIF1B | c.*847A>T (n.*847A>T) c.1675A>T (p.Thr559Ser) c.1738A>T (p.Thr580Ser) c.1813A>T (p.Thr605Ser) c.1771A>T (p.Thr591Ser) c.1735A>T (p.Thr579Ser) | |
1 | g.10296617_10296618insAT | CA1153149532 | KIF1B | c.*847_*848insAT (n.*847_*848insAT) c.1675_1676insAT (p.Thr559AsnfsTer4) c.1738_1739insAT (p.Thr580AsnfsTer4) c.1813_1814insAT (p.Thr605AsnfsTer4) c.1771_1772insAT (p.Thr591AsnfsTer4) c.1735_1736insAT (p.Thr579AsnfsTer4) | dbSNP |
1 | g.10296618C>A | CA338315719 | KIF1B | c.*848C>A (n.*848C>A) c.1676C>A (p.Thr559Asn) c.1739C>A (p.Thr580Asn) c.1814C>A (p.Thr605Asn) c.1772C>A (p.Thr591Asn) c.1736C>A (p.Thr579Asn) | |
1 | g.10296618C= | CA1153149533 | KIF1B | c.*848C= (n.*848C=) c.1676C= (p.Thr559=) c.1739C= (p.Thr580=) c.1814C= (p.Thr605=) c.1772C= (p.Thr591=) c.1736C= (p.Thr579=) | |
1 | g.10296618C>G | CA338315734 | KIF1B | c.*848C>G (n.*848C>G) c.1676C>G (p.Thr559Ser) c.1739C>G (p.Thr580Ser) c.1814C>G (p.Thr605Ser) c.1772C>G (p.Thr591Ser) c.1736C>G (p.Thr579Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10296618C>T | CA338315739 | KIF1B | c.*848C>T (n.*848C>T) c.1676C>T (p.Thr559Ile) c.1739C>T (p.Thr580Ile) c.1814C>T (p.Thr605Ile) c.1772C>T (p.Thr591Ile) c.1736C>T (p.Thr579Ile) | |
1 | g.10296619C>A | CA415880044 | KIF1B | c.*849C>A (n.*849C>A) c.1677C>A (p.Thr559=) c.1740C>A (p.Thr580=) c.1815C>A (p.Thr605=) c.1773C>A (p.Thr591=) c.1737C>A (p.Thr579=) | |
1 | g.10296619C>G | CA415880046 | KIF1B | c.*849C>G (n.*849C>G) c.1677C>G (p.Thr559=) c.1740C>G (p.Thr580=) c.1815C>G (p.Thr605=) c.1773C>G (p.Thr591=) c.1737C>G (p.Thr579=) | |
1 | g.10296619C>T | CA415880045 | KIF1B | c.*849C>T (n.*849C>T) c.1677C>T (p.Thr559=) c.1740C>T (p.Thr580=) c.1815C>T (p.Thr605=) c.1773C>T (p.Thr591=) c.1737C>T (p.Thr579=) | |
1 | g.10296620T>A | CA338315741 | KIF1B | c.*850T>A (n.*850T>A) c.1678T>A (p.Tyr560Asn) c.1741T>A (p.Tyr581Asn) c.1816T>A (p.Tyr606Asn) c.1774T>A (p.Tyr592Asn) c.1738T>A (p.Tyr580Asn) | |
1 | g.10296620T>C | CA338315743 | KIF1B | c.*850T>C (n.*850T>C) c.1678T>C (p.Tyr560His) c.1741T>C (p.Tyr581His) c.1816T>C (p.Tyr606His) c.1774T>C (p.Tyr592His) c.1738T>C (p.Tyr580His) | |
1 | g.10296620T>G | CA338315745 | KIF1B | c.*850T>G (n.*850T>G) c.1678T>G (p.Tyr560Asp) c.1741T>G (p.Tyr581Asp) c.1816T>G (p.Tyr606Asp) c.1774T>G (p.Tyr592Asp) c.1738T>G (p.Tyr580Asp) | |
1 | g.10296621A>C | CA338315746 | KIF1B | c.*851A>C (n.*851A>C) c.1679A>C (p.Tyr560Ser) c.1742A>C (p.Tyr581Ser) c.1817A>C (p.Tyr606Ser) c.1775A>C (p.Tyr592Ser) c.1739A>C (p.Tyr580Ser) | |
1 | g.10296621A>G | CA338315747 | KIF1B | c.*851A>G (n.*851A>G) c.1679A>G (p.Tyr560Cys) c.1742A>G (p.Tyr581Cys) c.1817A>G (p.Tyr606Cys) c.1775A>G (p.Tyr592Cys) c.1739A>G (p.Tyr580Cys) | |
1 | g.10296621A>T | CA338315748 | KIF1B | c.*851A>T (n.*851A>T) c.1679A>T (p.Tyr560Phe) c.1742A>T (p.Tyr581Phe) c.1817A>T (p.Tyr606Phe) c.1775A>T (p.Tyr592Phe) c.1739A>T (p.Tyr580Phe) | |
1 | g.10296622C>A | CA338315749 | KIF1B | c.*852C>A (n.*852C>A) c.1680C>A (p.Tyr560Ter) c.1743C>A (p.Tyr581Ter) c.1818C>A (p.Tyr606Ter) c.1776C>A (p.Tyr592Ter) c.1740C>A (p.Tyr580Ter) | |
1 | g.10296622C= | CA1153149538 | KIF1B | c.*852C= (n.*852C=) c.1680C= (p.Tyr560=) c.1743C= (p.Tyr581=) c.1818C= (p.Tyr606=) c.1776C= (p.Tyr592=) c.1740C= (p.Tyr580=) | |
1 | g.10296622C>G | CA338315752 | KIF1B | c.*852C>G (n.*852C>G) c.1680C>G (p.Tyr560Ter) c.1743C>G (p.Tyr581Ter) c.1818C>G (p.Tyr606Ter) c.1776C>G (p.Tyr592Ter) c.1740C>G (p.Tyr580Ter) | |
1 | g.10296622C>T | CA581095 | KIF1B | c.*852C>T (n.*852C>T) c.1680C>T (p.Tyr560=) c.1743C>T (p.Tyr581=) c.1818C>T (p.Tyr606=) c.1776C>T (p.Tyr592=) c.1740C>T (p.Tyr580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296623G>A | CA17813573 | KIF1B | c.*853G>A (n.*853G>A) c.1681G>A (p.Val561Ile) c.1744G>A (p.Val582Ile) c.1819G>A (p.Val607Ile) c.1777G>A (p.Val593Ile) c.1741G>A (p.Val581Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296623G>C | CA338315763 | KIF1B | c.*853G>C (n.*853G>C) c.1681G>C (p.Val561Leu) c.1744G>C (p.Val582Leu) c.1819G>C (p.Val607Leu) c.1777G>C (p.Val593Leu) c.1741G>C (p.Val581Leu) | |
1 | g.10296623G= | CA1153149543 | KIF1B | c.*853G= (n.*853G=) c.1681G= (p.Val561=) c.1744G= (p.Val582=) c.1819G= (p.Val607=) c.1777G= (p.Val593=) c.1741G= (p.Val581=) | |
1 | g.10296623G>T | CA338315761 | KIF1B | c.*853G>T (n.*853G>T) c.1681G>T (p.Val561Leu) c.1744G>T (p.Val582Leu) c.1819G>T (p.Val607Leu) c.1777G>T (p.Val593Leu) c.1741G>T (p.Val581Leu) | |
1 | g.10296624T>A | CA338315766 | KIF1B | c.*854T>A (n.*854T>A) c.1682T>A (p.Val561Glu) c.1745T>A (p.Val582Glu) c.1820T>A (p.Val607Glu) c.1778T>A (p.Val593Glu) c.1742T>A (p.Val581Glu) | |
1 | g.10296624T>C | CA338315764 | KIF1B | c.*854T>C (n.*854T>C) c.1682T>C (p.Val561Ala) c.1745T>C (p.Val582Ala) c.1820T>C (p.Val607Ala) c.1778T>C (p.Val593Ala) c.1742T>C (p.Val581Ala) | gnomAD v4 |
1 | g.10296624T>G | CA338315765 | KIF1B | c.*854T>G (n.*854T>G) c.1682T>G (p.Val561Gly) c.1745T>G (p.Val582Gly) c.1820T>G (p.Val607Gly) c.1778T>G (p.Val593Gly) c.1742T>G (p.Val581Gly) | gnomAD v4 |
1 | g.10296625A>C | CA415880053 | KIF1B | c.*855A>C (n.*855A>C) c.1683A>C (p.Val561=) c.1746A>C (p.Val582=) c.1821A>C (p.Val607=) c.1779A>C (p.Val593=) c.1743A>C (p.Val581=) | |
1 | g.10296625A>G | CA415880055 | KIF1B | c.*855A>G (n.*855A>G) c.1683A>G (p.Val561=) c.1746A>G (p.Val582=) c.1821A>G (p.Val607=) c.1779A>G (p.Val593=) c.1743A>G (p.Val581=) | |
1 | g.10296625A>T | CA415880056 | KIF1B | c.*855A>T (n.*855A>T) c.1683A>T (p.Val561=) c.1746A>T (p.Val582=) c.1821A>T (p.Val607=) c.1779A>T (p.Val593=) c.1743A>T (p.Val581=) | |
1 | g.10296626A>C | CA338315768 | KIF1B | c.*856A>C (n.*856A>C) c.1684A>C (p.Asn562His) c.1747A>C (p.Asn583His) c.1822A>C (p.Asn608His) c.1780A>C (p.Asn594His) c.1744A>C (p.Asn582His) | |
1 | g.10296626A>G | CA338315770 | KIF1B | c.*856A>G (n.*856A>G) c.1684A>G (p.Asn562Asp) c.1747A>G (p.Asn583Asp) c.1822A>G (p.Asn608Asp) c.1780A>G (p.Asn594Asp) c.1744A>G (p.Asn582Asp) | |
1 | g.10296626A>T | CA338315774 | KIF1B | c.*856A>T (n.*856A>T) c.1684A>T (p.Asn562Tyr) c.1747A>T (p.Asn583Tyr) c.1822A>T (p.Asn608Tyr) c.1780A>T (p.Asn594Tyr) c.1744A>T (p.Asn582Tyr) | |
1 | g.10296627A= | CA1153149546 | KIF1B | c.*857A= (n.*857A=) c.1685A= (p.Asn562=) c.1748A= (p.Asn583=) c.1823A= (p.Asn608=) c.1781A= (p.Asn594=) c.1745A= (p.Asn582=) | |
1 | g.10296627A>C | CA338315792 | KIF1B | c.*857A>C (n.*857A>C) c.1685A>C (p.Asn562Thr) c.1748A>C (p.Asn583Thr) c.1823A>C (p.Asn608Thr) c.1781A>C (p.Asn594Thr) c.1745A>C (p.Asn582Thr) | |
1 | g.10296627A>G | CA338315795 | KIF1B | c.*857A>G (n.*857A>G) c.1685A>G (p.Asn562Ser) c.1748A>G (p.Asn583Ser) c.1823A>G (p.Asn608Ser) c.1781A>G (p.Asn594Ser) c.1745A>G (p.Asn582Ser) | |
1 | g.10296627A>T | CA338315800 | KIF1B | c.*857A>T (n.*857A>T) c.1685A>T (p.Asn562Ile) c.1748A>T (p.Asn583Ile) c.1823A>T (p.Asn608Ile) c.1781A>T (p.Asn594Ile) c.1745A>T (p.Asn582Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10296628T>A | CA338315803 | KIF1B | c.*858T>A (n.*858T>A) c.1686T>A (p.Asn562Lys) c.1749T>A (p.Asn583Lys) c.1824T>A (p.Asn608Lys) c.1782T>A (p.Asn594Lys) c.1746T>A (p.Asn582Lys) | |
1 | g.10296628T>C | CA415880061 | KIF1B | c.*858T>C (n.*858T>C) c.1686T>C (p.Asn562=) c.1749T>C (p.Asn583=) c.1824T>C (p.Asn608=) c.1782T>C (p.Asn594=) c.1746T>C (p.Asn582=) | gnomAD v4 |
1 | g.10296628T>G | CA338315809 | KIF1B | c.*858T>G (n.*858T>G) c.1686T>G (p.Asn562Lys) c.1749T>G (p.Asn583Lys) c.1824T>G (p.Asn608Lys) c.1782T>G (p.Asn594Lys) c.1746T>G (p.Asn582Lys) | |
1 | g.10296629G>A | CA338315812 | KIF1B | c.*859G>A (n.*859G>A) c.1687G>A (p.Gly563Ser) c.1750G>A (p.Gly584Ser) c.1825G>A (p.Gly609Ser) c.1783G>A (p.Gly595Ser) c.1747G>A (p.Gly583Ser) | |
1 | g.10296629G>C | CA338315813 | KIF1B | c.*859G>C (n.*859G>C) c.1687G>C (p.Gly563Arg) c.1750G>C (p.Gly584Arg) c.1825G>C (p.Gly609Arg) c.1783G>C (p.Gly595Arg) c.1747G>C (p.Gly583Arg) | |
1 | g.10296629G>T | CA338315815 | KIF1B | c.*859G>T (n.*859G>T) c.1687G>T (p.Gly563Cys) c.1750G>T (p.Gly584Cys) c.1825G>T (p.Gly609Cys) c.1783G>T (p.Gly595Cys) c.1747G>T (p.Gly583Cys) | |
1 | g.10296630G>A | CA338315825 | KIF1B | c.*860G>A (n.*860G>A) c.1688G>A (p.Gly563Asp) c.1751G>A (p.Gly584Asp) c.1826G>A (p.Gly609Asp) c.1784G>A (p.Gly595Asp) c.1748G>A (p.Gly583Asp) | |
1 | g.10296630G>C | CA338315820 | KIF1B | c.*860G>C (n.*860G>C) c.1688G>C (p.Gly563Ala) c.1751G>C (p.Gly584Ala) c.1826G>C (p.Gly609Ala) c.1784G>C (p.Gly595Ala) c.1748G>C (p.Gly583Ala) | |
1 | g.10296630G>T | CA338315822 | KIF1B | c.*860G>T (n.*860G>T) c.1688G>T (p.Gly563Val) c.1751G>T (p.Gly584Val) c.1826G>T (p.Gly609Val) c.1784G>T (p.Gly595Val) c.1748G>T (p.Gly583Val) | |
1 | g.10296631C>A | CA415880065 | KIF1B | c.*861C>A (n.*861C>A) c.1689C>A (p.Gly563=) c.1752C>A (p.Gly584=) c.1827C>A (p.Gly609=) c.1785C>A (p.Gly595=) c.1749C>A (p.Gly583=) | |
1 | g.10296631C= | CA1153149549 | KIF1B | c.*861C= (n.*861C=) c.1689C= (p.Gly563=) c.1752C= (p.Gly584=) c.1827C= (p.Gly609=) c.1785C= (p.Gly595=) c.1749C= (p.Gly583=) | |
1 | g.10296631C>G | CA415880066 | KIF1B | c.*861C>G (n.*861C>G) c.1689C>G (p.Gly563=) c.1752C>G (p.Gly584=) c.1827C>G (p.Gly609=) c.1785C>G (p.Gly595=) c.1749C>G (p.Gly583=) | dbSNP |
1 | g.10296631C>T | CA415880067 | KIF1B | c.*861C>T (n.*861C>T) c.1689C>T (p.Gly563=) c.1752C>T (p.Gly584=) c.1827C>T (p.Gly609=) c.1785C>T (p.Gly595=) c.1749C>T (p.Gly583=) | |
1 | g.10296632A>C | CA338315831 | KIF1B | c.*862A>C (n.*862A>C) c.1690A>C (p.Lys564Gln) c.1753A>C (p.Lys585Gln) c.1828A>C (p.Lys610Gln) c.1786A>C (p.Lys596Gln) c.1750A>C (p.Lys584Gln) | |
1 | g.10296632A>G | CA338315835 | KIF1B | c.*862A>G (n.*862A>G) c.1690A>G (p.Lys564Glu) c.1753A>G (p.Lys585Glu) c.1828A>G (p.Lys610Glu) c.1786A>G (p.Lys596Glu) c.1750A>G (p.Lys584Glu) | |
1 | g.10296632A>T | CA338315845 | KIF1B | c.*862A>T (n.*862A>T) c.1690A>T (p.Lys564Ter) c.1753A>T (p.Lys585Ter) c.1828A>T (p.Lys610Ter) c.1786A>T (p.Lys596Ter) c.1750A>T (p.Lys584Ter) | |
1 | g.10296633A= | CA1153149552 | KIF1B | c.*863A= (n.*863A=) c.1691A= (p.Lys564=) c.1754A= (p.Lys585=) c.1829A= (p.Lys610=) c.1787A= (p.Lys596=) c.1751A= (p.Lys584=) | |
1 | g.10296633A>C | CA338315853 | KIF1B | c.*863A>C (n.*863A>C) c.1691A>C (p.Lys564Thr) c.1754A>C (p.Lys585Thr) c.1829A>C (p.Lys610Thr) c.1787A>C (p.Lys596Thr) c.1751A>C (p.Lys584Thr) | |
1 | g.10296633A>G | CA338315857 | KIF1B | c.*863A>G (n.*863A>G) c.1691A>G (p.Lys564Arg) c.1754A>G (p.Lys585Arg) c.1829A>G (p.Lys610Arg) c.1787A>G (p.Lys596Arg) c.1751A>G (p.Lys584Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10296633A>T | CA338315870 | KIF1B | c.*863A>T (n.*863A>T) c.1691A>T (p.Lys564Met) c.1754A>T (p.Lys585Met) c.1829A>T (p.Lys610Met) c.1787A>T (p.Lys596Met) c.1751A>T (p.Lys584Met) | |
1 | g.10296634G>A | CA415880071 | KIF1B | c.*864G>A (n.*864G>A) c.1692G>A (p.Lys564=) c.1755G>A (p.Lys585=) c.1830G>A (p.Lys610=) c.1788G>A (p.Lys596=) c.1752G>A (p.Lys584=) | ClinVar |
1 | g.10296634G>C | CA338315873 | KIF1B | c.*864G>C (n.*864G>C) c.1692G>C (p.Lys564Asn) c.1755G>C (p.Lys585Asn) c.1830G>C (p.Lys610Asn) c.1788G>C (p.Lys596Asn) c.1752G>C (p.Lys584Asn) | |
1 | g.10296634G>T | CA338315875 | KIF1B | c.*864G>T (n.*864G>T) c.1692G>T (p.Lys564Asn) c.1755G>T (p.Lys585Asn) c.1830G>T (p.Lys610Asn) c.1788G>T (p.Lys596Asn) c.1752G>T (p.Lys584Asn) | |
1 | g.10296635A>C | CA415880073 | KIF1B | c.*865A>C (n.*865A>C) c.1693A>C (p.Arg565=) c.1756A>C (p.Arg586=) c.1831A>C (p.Arg611=) c.1789A>C (p.Arg597=) c.1753A>C (p.Arg585=) | |
1 | g.10296635A>G | CA338315880 | KIF1B | c.*865A>G (n.*865A>G) c.1693A>G (p.Arg565Gly) c.1756A>G (p.Arg586Gly) c.1831A>G (p.Arg611Gly) c.1789A>G (p.Arg597Gly) c.1753A>G (p.Arg585Gly) | |
1 | g.10296635A>T | CA338315882 | KIF1B | c.*865A>T (n.*865A>T) c.1693A>T (p.Arg565Trp) c.1756A>T (p.Arg586Trp) c.1831A>T (p.Arg611Trp) c.1789A>T (p.Arg597Trp) c.1753A>T (p.Arg585Trp) | |
1 | g.10296636G>A | CA338315885 | KIF1B | c.*866G>A (n.*866G>A) c.1694G>A (p.Arg565Lys) c.1757G>A (p.Arg586Lys) c.1832G>A (p.Arg611Lys) c.1790G>A (p.Arg597Lys) c.1754G>A (p.Arg585Lys) | COSMIC COSMIC |
1 | g.10296636G>C | CA581096 | KIF1B | c.*866G>C (n.*866G>C) c.1694G>C (p.Arg565Thr) c.1757G>C (p.Arg586Thr) c.1832G>C (p.Arg611Thr) c.1790G>C (p.Arg597Thr) c.1754G>C (p.Arg585Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296636G= | CA1153149557 | KIF1B | c.*866G= (n.*866G=) c.1694G= (p.Arg565=) c.1757G= (p.Arg586=) c.1832G= (p.Arg611=) c.1790G= (p.Arg597=) c.1754G= (p.Arg585=) | |
1 | g.10296636G>T | CA338315891 | KIF1B | c.*866G>T (n.*866G>T) c.1694G>T (p.Arg565Met) c.1757G>T (p.Arg586Met) c.1832G>T (p.Arg611Met) c.1790G>T (p.Arg597Met) c.1754G>T (p.Arg585Met) | |
1 | g.10296638del | CA2643178600 | KIF1B | c.*868del (n.*868del) c.1696del (p.Val566CysfsTer?) c.1759del (p.Val587CysfsTer?) c.1834del (p.Val612CysfsTer?) c.1792del (p.Val598CysfsTer?) c.1756del (p.Val586CysfsTer?) | gnomAD v4 |
1 | g.10296637G>A | CA415880076 | KIF1B | c.*867G>A (n.*867G>A) c.1695G>A (p.Arg565=) c.1758G>A (p.Arg586=) c.1833G>A (p.Arg611=) c.1791G>A (p.Arg597=) c.1755G>A (p.Arg585=) | |
1 | g.10296637G>C | CA338315910 | KIF1B | c.*867G>C (n.*867G>C) c.1695G>C (p.Arg565Ser) c.1758G>C (p.Arg586Ser) c.1833G>C (p.Arg611Ser) c.1791G>C (p.Arg597Ser) c.1755G>C (p.Arg585Ser) | |
1 | g.10296637G>T | CA338315896 | KIF1B | c.*867G>T (n.*867G>T) c.1695G>T (p.Arg565Ser) c.1758G>T (p.Arg586Ser) c.1833G>T (p.Arg611Ser) c.1791G>T (p.Arg597Ser) c.1755G>T (p.Arg585Ser) | |
1 | g.10296638G>A | CA338315912 | KIF1B | c.*868G>A (n.*868G>A) c.1696G>A (p.Val566Met) c.1759G>A (p.Val587Met) c.1834G>A (p.Val612Met) c.1792G>A (p.Val598Met) c.1756G>A (p.Val586Met) | |
1 | g.10296638G>C | CA581097 | KIF1B | c.*868G>C (n.*868G>C) c.1696G>C (p.Val566Leu) c.1759G>C (p.Val587Leu) c.1834G>C (p.Val612Leu) c.1792G>C (p.Val598Leu) c.1756G>C (p.Val586Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296638G= | CA1153149563 | KIF1B | c.*868G= (n.*868G=) c.1696G= (p.Val566=) c.1759G= (p.Val587=) c.1834G= (p.Val612=) c.1792G= (p.Val598=) c.1756G= (p.Val586=) | |
1 | g.10296638G>T | CA338315915 | KIF1B | c.*868G>T (n.*868G>T) c.1696G>T (p.Val566Leu) c.1759G>T (p.Val587Leu) c.1834G>T (p.Val612Leu) c.1792G>T (p.Val598Leu) c.1756G>T (p.Val586Leu) | ClinVar |
1 | g.10296639T>A | CA338315920 | KIF1B | c.*869T>A (n.*869T>A) c.1697T>A (p.Val566Glu) c.1760T>A (p.Val587Glu) c.1835T>A (p.Val612Glu) c.1793T>A (p.Val598Glu) c.1757T>A (p.Val586Glu) | |
1 | g.10296639T>C | CA338315951 | KIF1B | c.*869T>C (n.*869T>C) c.1697T>C (p.Val566Ala) c.1760T>C (p.Val587Ala) c.1835T>C (p.Val612Ala) c.1793T>C (p.Val598Ala) c.1757T>C (p.Val586Ala) | gnomAD v4 |
1 | g.10296639T>G | CA338315955 | KIF1B | c.*869T>G (n.*869T>G) c.1697T>G (p.Val566Gly) c.1760T>G (p.Val587Gly) c.1835T>G (p.Val612Gly) c.1793T>G (p.Val598Gly) c.1757T>G (p.Val586Gly) | |
1 | g.10296640G>A | CA581098 | KIF1B | c.*870G>A (n.*870G>A) c.1698G>A (p.Val566=) c.1761G>A (p.Val587=) c.1836G>A (p.Val612=) c.1794G>A (p.Val598=) c.1758G>A (p.Val586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296640G>C | CA415880080 | KIF1B | c.*870G>C (n.*870G>C) c.1698G>C (p.Val566=) c.1761G>C (p.Val587=) c.1836G>C (p.Val612=) c.1794G>C (p.Val598=) c.1758G>C (p.Val586=) | |
1 | g.10296640G= | CA1143700720 | KIF1B | c.*870G= (n.*870G=) c.1698G= (p.Val566=) c.1761G= (p.Val587=) c.1836G= (p.Val612=) c.1794G= (p.Val598=) c.1758G= (p.Val586=) | |
1 | g.10296640G>T | CA415880079 | KIF1B | c.*870G>T (n.*870G>T) c.1698G>T (p.Val566=) c.1761G>T (p.Val587=) c.1836G>T (p.Val612=) c.1794G>T (p.Val598=) c.1758G>T (p.Val586=) | |
1 | g.10296641T>A | CA338315974 | KIF1B | c.*871T>A (n.*871T>A) c.1699T>A (p.Ser567Thr) c.1762T>A (p.Ser588Thr) c.1837T>A (p.Ser613Thr) c.1795T>A (p.Ser599Thr) c.1759T>A (p.Ser587Thr) | |
1 | g.10296641T>C | CA338315981 | KIF1B | c.*871T>C (n.*871T>C) c.1699T>C (p.Ser567Pro) c.1762T>C (p.Ser588Pro) c.1837T>C (p.Ser613Pro) c.1795T>C (p.Ser599Pro) c.1759T>C (p.Ser587Pro) | |
1 | g.10296641T>G | CA338315985 | KIF1B | c.*871T>G (n.*871T>G) c.1699T>G (p.Ser567Ala) c.1762T>G (p.Ser588Ala) c.1837T>G (p.Ser613Ala) c.1795T>G (p.Ser599Ala) c.1759T>G (p.Ser587Ala) | |
1 | g.10296642C>A | CA338315997 | KIF1B | c.*872C>A (n.*872C>A) c.1700C>A (p.Ser567Tyr) c.1763C>A (p.Ser588Tyr) c.1838C>A (p.Ser613Tyr) c.1796C>A (p.Ser599Tyr) c.1760C>A (p.Ser587Tyr) | |
1 | g.10296642C>G | CA338316000 | KIF1B | c.*872C>G (n.*872C>G) c.1700C>G (p.Ser567Cys) c.1763C>G (p.Ser588Cys) c.1838C>G (p.Ser613Cys) c.1796C>G (p.Ser599Cys) c.1760C>G (p.Ser587Cys) | |
1 | g.10296642C>T | CA338316025 | KIF1B | c.*872C>T (n.*872C>T) c.1700C>T (p.Ser567Phe) c.1763C>T (p.Ser588Phe) c.1838C>T (p.Ser613Phe) c.1796C>T (p.Ser599Phe) c.1760C>T (p.Ser587Phe) | |
1 | g.10296643C>A | CA415880083 | KIF1B | c.*873C>A (n.*873C>A) c.1701C>A (p.Ser567=) c.1764C>A (p.Ser588=) c.1839C>A (p.Ser613=) c.1797C>A (p.Ser599=) c.1761C>A (p.Ser587=) | gnomAD v4 |
1 | g.10296643C>G | CA415880081 | KIF1B | c.*873C>G (n.*873C>G) c.1701C>G (p.Ser567=) c.1764C>G (p.Ser588=) c.1839C>G (p.Ser613=) c.1797C>G (p.Ser599=) c.1761C>G (p.Ser587=) | |
1 | g.10296643C>T | CA415880082 | KIF1B | c.*873C>T (n.*873C>T) c.1701C>T (p.Ser567=) c.1764C>T (p.Ser588=) c.1839C>T (p.Ser613=) c.1797C>T (p.Ser599=) c.1761C>T (p.Ser587=) | |
1 | g.10296644C>A | CA338316044 | KIF1B | c.*874C>A (n.*874C>A) c.1702C>A (p.Gln568Lys) c.1765C>A (p.Gln589Lys) c.1840C>A (p.Gln614Lys) c.1798C>A (p.Gln600Lys) c.1762C>A (p.Gln588Lys) | ClinVar |
1 | g.10296644C>G | CA338316036 | KIF1B | c.*874C>G (n.*874C>G) c.1702C>G (p.Gln568Glu) c.1765C>G (p.Gln589Glu) c.1840C>G (p.Gln614Glu) c.1798C>G (p.Gln600Glu) c.1762C>G (p.Gln588Glu) | |
1 | g.10296644C>T | CA338316033 | KIF1B | c.*874C>T (n.*874C>T) c.1702C>T (p.Gln568Ter) c.1765C>T (p.Gln589Ter) c.1840C>T (p.Gln614Ter) c.1798C>T (p.Gln600Ter) c.1762C>T (p.Gln588Ter) | |
1 | g.10296645A>C | CA338316049 | KIF1B | c.*875A>C (n.*875A>C) c.1703A>C (p.Gln568Pro) c.1766A>C (p.Gln589Pro) c.1841A>C (p.Gln614Pro) c.1799A>C (p.Gln600Pro) c.1763A>C (p.Gln588Pro) | |
1 | g.10296645A>G | CA338316051 | KIF1B | c.*875A>G (n.*875A>G) c.1703A>G (p.Gln568Arg) c.1766A>G (p.Gln589Arg) c.1841A>G (p.Gln614Arg) c.1799A>G (p.Gln600Arg) c.1763A>G (p.Gln588Arg) | ClinVar gnomAD v4 |
1 | g.10296645A>T | CA338316053 | KIF1B | c.*875A>T (n.*875A>T) c.1703A>T (p.Gln568Leu) c.1766A>T (p.Gln589Leu) c.1841A>T (p.Gln614Leu) c.1799A>T (p.Gln600Leu) c.1763A>T (p.Gln588Leu) | |
1 | g.10296646G>A | CA415880085 | KIF1B | c.*876G>A (n.*876G>A) c.1704G>A (p.Gln568=) c.1767G>A (p.Gln589=) c.1842G>A (p.Gln614=) c.1800G>A (p.Gln600=) c.1764G>A (p.Gln588=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10296646G>C | CA338316055 | KIF1B | c.*876G>C (n.*876G>C) c.1704G>C (p.Gln568His) c.1767G>C (p.Gln589His) c.1842G>C (p.Gln614His) c.1800G>C (p.Gln600His) c.1764G>C (p.Gln588His) | |
1 | g.10296646G= | CA1153149572 | KIF1B | c.*876G= (n.*876G=) c.1704G= (p.Gln568=) c.1767G= (p.Gln589=) c.1842G= (p.Gln614=) c.1800G= (p.Gln600=) c.1764G= (p.Gln588=) | |
1 | g.10296646G>T | CA338316057 | KIF1B | c.*876G>T (n.*876G>T) c.1704G>T (p.Gln568His) c.1767G>T (p.Gln589His) c.1842G>T (p.Gln614His) c.1800G>T (p.Gln600His) c.1764G>T (p.Gln588His) | |
1 | g.10296647C>A | CA338316075 | KIF1B | c.*877C>A (n.*877C>A) c.1705C>A (p.Pro569Thr) c.1768C>A (p.Pro590Thr) c.1843C>A (p.Pro615Thr) c.1801C>A (p.Pro601Thr) c.1765C>A (p.Pro589Thr) | |
1 | g.10296647C>G | CA338316081 | KIF1B | c.*877C>G (n.*877C>G) c.1705C>G (p.Pro569Ala) c.1768C>G (p.Pro590Ala) c.1843C>G (p.Pro615Ala) c.1801C>G (p.Pro601Ala) c.1765C>G (p.Pro589Ala) | ClinVar |
1 | g.10296647C>T | CA338316089 | KIF1B | c.*877C>T (n.*877C>T) c.1705C>T (p.Pro569Ser) c.1768C>T (p.Pro590Ser) c.1843C>T (p.Pro615Ser) c.1801C>T (p.Pro601Ser) c.1765C>T (p.Pro589Ser) | |
1 | g.10296648C>A | CA338316092 | KIF1B | c.*878C>A (n.*878C>A) c.1706C>A (p.Pro569His) c.1769C>A (p.Pro590His) c.1844C>A (p.Pro615His) c.1802C>A (p.Pro601His) c.1766C>A (p.Pro589His) | |
1 | g.10296648C>G | CA338316097 | KIF1B | c.*878C>G (n.*878C>G) c.1706C>G (p.Pro569Arg) c.1769C>G (p.Pro590Arg) c.1844C>G (p.Pro615Arg) c.1802C>G (p.Pro601Arg) c.1766C>G (p.Pro589Arg) | ClinVar |
1 | g.10296648C>T | CA338316099 | KIF1B | c.*878C>T (n.*878C>T) c.1706C>T (p.Pro569Leu) c.1769C>T (p.Pro590Leu) c.1844C>T (p.Pro615Leu) c.1802C>T (p.Pro601Leu) c.1766C>T (p.Pro589Leu) | |
1 | g.10296649T>A | CA415880087 | KIF1B | c.*879T>A (n.*879T>A) c.1707T>A (p.Pro569=) c.1770T>A (p.Pro590=) c.1845T>A (p.Pro615=) c.1803T>A (p.Pro601=) c.1767T>A (p.Pro589=) | gnomAD v4 |
1 | g.10296649T>C | CA415880088 | KIF1B | c.*879T>C (n.*879T>C) c.1707T>C (p.Pro569=) c.1770T>C (p.Pro590=) c.1845T>C (p.Pro615=) c.1803T>C (p.Pro601=) c.1767T>C (p.Pro589=) | |
1 | g.10296649T>G | CA415880089 | KIF1B | c.*879T>G (n.*879T>G) c.1707T>G (p.Pro569=) c.1770T>G (p.Pro590=) c.1845T>G (p.Pro615=) c.1803T>G (p.Pro601=) c.1767T>G (p.Pro589=) | |
1 | g.10296650G>A | CA581099 | KIF1B | c.*880G>A (n.*880G>A) c.1708G>A (p.Val570Ile) c.1771G>A (p.Val591Ile) c.1846G>A (p.Val616Ile) c.1804G>A (p.Val602Ile) c.1768G>A (p.Val590Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296650G>C | CA338316109 | KIF1B | c.*880G>C (n.*880G>C) c.1708G>C (p.Val570Leu) c.1771G>C (p.Val591Leu) c.1846G>C (p.Val616Leu) c.1804G>C (p.Val602Leu) c.1768G>C (p.Val590Leu) | |
1 | g.10296650G= | CA1153149575 | KIF1B | c.*880G= (n.*880G=) c.1708G= (p.Val570=) c.1771G= (p.Val591=) c.1846G= (p.Val616=) c.1804G= (p.Val602=) c.1768G= (p.Val590=) | |
1 | g.10296650G>T | CA338316110 | KIF1B | c.*880G>T (n.*880G>T) c.1708G>T (p.Val570Phe) c.1771G>T (p.Val591Phe) c.1846G>T (p.Val616Phe) c.1804G>T (p.Val602Phe) c.1768G>T (p.Val590Phe) | |
1 | g.10296651T>A | CA338316120 | KIF1B | c.*881T>A (n.*881T>A) c.1709T>A (p.Val570Asp) c.1772T>A (p.Val591Asp) c.1847T>A (p.Val616Asp) c.1805T>A (p.Val602Asp) c.1769T>A (p.Val590Asp) | |
1 | g.10296651T>C | CA338316125 | KIF1B | c.*881T>C (n.*881T>C) c.1709T>C (p.Val570Ala) c.1772T>C (p.Val591Ala) c.1847T>C (p.Val616Ala) c.1805T>C (p.Val602Ala) c.1769T>C (p.Val590Ala) | gnomAD v4 |
1 | g.10296651T>G | CA338316114 | KIF1B | c.*881T>G (n.*881T>G) c.1709T>G (p.Val570Gly) c.1772T>G (p.Val591Gly) c.1847T>G (p.Val616Gly) c.1805T>G (p.Val602Gly) c.1769T>G (p.Val590Gly) | |
1 | g.10296652T>A | CA415880090 | KIF1B | c.*882T>A (n.*882T>A) c.1710T>A (p.Val570=) c.1773T>A (p.Val591=) c.1848T>A (p.Val616=) c.1806T>A (p.Val602=) c.1770T>A (p.Val590=) | |
1 | g.10296652T>C | CA415880091 | KIF1B | c.*882T>C (n.*882T>C) c.1710T>C (p.Val570=) c.1773T>C (p.Val591=) c.1848T>C (p.Val616=) c.1806T>C (p.Val602=) c.1770T>C (p.Val590=) | |
1 | g.10296652T>G | CA415880092 | KIF1B | c.*882T>G (n.*882T>G) c.1710T>G (p.Val570=) c.1773T>G (p.Val591=) c.1848T>G (p.Val616=) c.1806T>G (p.Val602=) c.1770T>G (p.Val590=) | |
1 | g.10296653C>A | CA338316131 | KIF1B | c.*883C>A (n.*883C>A) c.1711C>A (p.Gln571Lys) c.1774C>A (p.Gln592Lys) c.1849C>A (p.Gln617Lys) c.1807C>A (p.Gln603Lys) c.1771C>A (p.Gln591Lys) | |
1 | g.10296653C= | CA1153149579 | KIF1B | c.*883C= (n.*883C=) c.1711C= (p.Gln571=) c.1774C= (p.Gln592=) c.1849C= (p.Gln617=) c.1807C= (p.Gln603=) c.1771C= (p.Gln591=) | |
1 | g.10296653C>G | CA338316162 | KIF1B | c.*883C>G (n.*883C>G) c.1711C>G (p.Gln571Glu) c.1774C>G (p.Gln592Glu) c.1849C>G (p.Gln617Glu) c.1807C>G (p.Gln603Glu) c.1771C>G (p.Gln591Glu) | ClinVar dbSNP COSMIC COSMIC |
1 | g.10296653C>T | CA338316142 | KIF1B | c.*883C>T (n.*883C>T) c.1711C>T (p.Gln571Ter) c.1774C>T (p.Gln592Ter) c.1849C>T (p.Gln617Ter) c.1807C>T (p.Gln603Ter) c.1771C>T (p.Gln591Ter) | ClinVar |
1 | g.10296654A>C | CA338316168 | KIF1B | c.*884A>C (n.*884A>C) c.1712A>C (p.Gln571Pro) c.1775A>C (p.Gln592Pro) c.1850A>C (p.Gln617Pro) c.1808A>C (p.Gln603Pro) c.1772A>C (p.Gln591Pro) | |
1 | g.10296654A>G | CA338316170 | KIF1B | c.*884A>G (n.*884A>G) c.1712A>G (p.Gln571Arg) c.1775A>G (p.Gln592Arg) c.1850A>G (p.Gln617Arg) c.1808A>G (p.Gln603Arg) c.1772A>G (p.Gln591Arg) | |
1 | g.10296654A>T | CA338316175 | KIF1B | c.*884A>T (n.*884A>T) c.1712A>T (p.Gln571Leu) c.1775A>T (p.Gln592Leu) c.1850A>T (p.Gln617Leu) c.1808A>T (p.Gln603Leu) c.1772A>T (p.Gln591Leu) | gnomAD v4 |
1 | g.10296655G>A | CA415880093 | KIF1B | c.*885G>A (n.*885G>A) c.1713G>A (p.Gln571=) c.1776G>A (p.Gln592=) c.1851G>A (p.Gln617=) c.1809G>A (p.Gln603=) c.1773G>A (p.Gln591=) | COSMIC COSMIC |
1 | g.10296655G>C | CA338316176 | KIF1B | c.*885G>C (n.*885G>C) c.1713G>C (p.Gln571His) c.1776G>C (p.Gln592His) c.1851G>C (p.Gln617His) c.1809G>C (p.Gln603His) c.1773G>C (p.Gln591His) | |
1 | g.10296655G>T | CA338316177 | KIF1B | c.*885G>T (n.*885G>T) c.1713G>T (p.Gln571His) c.1776G>T (p.Gln592His) c.1851G>T (p.Gln617His) c.1809G>T (p.Gln603His) c.1773G>T (p.Gln591His) | gnomAD v4 |
1 | g.10296656C>A | CA338316179 | KIF1B | c.*886C>A (n.*886C>A) c.1714C>A (p.Leu572Met) c.1777C>A (p.Leu593Met) c.1852C>A (p.Leu618Met) c.1810C>A (p.Leu604Met) c.1774C>A (p.Leu592Met) | |
1 | g.10296656C>G | CA338316181 | KIF1B | c.*886C>G (n.*886C>G) c.1714C>G (p.Leu572Val) c.1777C>G (p.Leu593Val) c.1852C>G (p.Leu618Val) c.1810C>G (p.Leu604Val) c.1774C>G (p.Leu592Val) | |
1 | g.10296656C>T | CA415880094 | KIF1B | c.*886C>T (n.*886C>T) c.1714C>T (p.Leu572=) c.1777C>T (p.Leu593=) c.1852C>T (p.Leu618=) c.1810C>T (p.Leu604=) c.1774C>T (p.Leu592=) | |
1 | g.10296657T>A | CA338316184 | KIF1B | c.*887T>A (n.*887T>A) c.1715T>A (p.Leu572Gln) c.1778T>A (p.Leu593Gln) c.1853T>A (p.Leu618Gln) c.1811T>A (p.Leu604Gln) c.1775T>A (p.Leu592Gln) | |
1 | g.10296657T>C | CA338316198 | KIF1B | c.*887T>C (n.*887T>C) c.1715T>C (p.Leu572Pro) c.1778T>C (p.Leu593Pro) c.1853T>C (p.Leu618Pro) c.1811T>C (p.Leu604Pro) c.1775T>C (p.Leu592Pro) | |
1 | g.10296657T>G | CA338316219 | KIF1B | c.*887T>G (n.*887T>G) c.1715T>G (p.Leu572Arg) c.1778T>G (p.Leu593Arg) c.1853T>G (p.Leu618Arg) c.1811T>G (p.Leu604Arg) c.1775T>G (p.Leu592Arg) | |
1 | g.10296658G>A | CA415880095 | KIF1B | c.*888G>A (n.*888G>A) c.1716G>A (p.Leu572=) c.1779G>A (p.Leu593=) c.1854G>A (p.Leu618=) c.1812G>A (p.Leu604=) c.1776G>A (p.Leu592=) | |
1 | g.10296658G>C | CA415880096 | KIF1B | c.*888G>C (n.*888G>C) c.1716G>C (p.Leu572=) c.1779G>C (p.Leu593=) c.1854G>C (p.Leu618=) c.1812G>C (p.Leu604=) c.1776G>C (p.Leu592=) | |
1 | g.10296658G>T | CA415880097 | KIF1B | c.*888G>T (n.*888G>T) c.1716G>T (p.Leu572=) c.1779G>T (p.Leu593=) c.1854G>T (p.Leu618=) c.1812G>T (p.Leu604=) c.1776G>T (p.Leu592=) | |
1 | g.10296659C>A | CA338316222 | KIF1B | c.*889C>A (n.*889C>A) c.1717C>A (p.Arg573Ser) c.1780C>A (p.Arg594Ser) c.1855C>A (p.Arg619Ser) c.1813C>A (p.Arg605Ser) c.1777C>A (p.Arg593Ser) | |
1 | g.10296659C= | CA1153149585 | KIF1B | c.*889C= (n.*889C=) c.1717C= (p.Arg573=) c.1780C= (p.Arg594=) c.1855C= (p.Arg619=) c.1813C= (p.Arg605=) c.1777C= (p.Arg593=) | |
1 | g.10296659C>G | CA338316221 | KIF1B | c.*889C>G (n.*889C>G) c.1717C>G (p.Arg573Gly) c.1780C>G (p.Arg594Gly) c.1855C>G (p.Arg619Gly) c.1813C>G (p.Arg605Gly) c.1777C>G (p.Arg593Gly) | |
1 | g.10296659C>T | CA336237 | KIF1B | c.*889C>T (n.*889C>T) c.1717C>T (p.Arg573Cys) c.1780C>T (p.Arg594Cys) c.1855C>T (p.Arg619Cys) c.1813C>T (p.Arg605Cys) c.1777C>T (p.Arg593Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.10296660G>A | CA581100 | KIF1B | c.*890G>A (n.*890G>A) c.1718G>A (p.Arg573His) c.1781G>A (p.Arg594His) c.1856G>A (p.Arg619His) c.1814G>A (p.Arg605His) c.1778G>A (p.Arg593His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296660G>C | CA338316227 | KIF1B | c.*890G>C (n.*890G>C) c.1718G>C (p.Arg573Pro) c.1781G>C (p.Arg594Pro) c.1856G>C (p.Arg619Pro) c.1814G>C (p.Arg605Pro) c.1778G>C (p.Arg593Pro) | |
1 | g.10296660G= | CA1143523436 | KIF1B | c.*890G= (n.*890G=) c.1718G= (p.Arg573=) c.1781G= (p.Arg594=) c.1856G= (p.Arg619=) c.1814G= (p.Arg605=) c.1778G= (p.Arg593=) | |
1 | g.10296660G>T | CA581101 | KIF1B | c.*890G>T (n.*890G>T) c.1718G>T (p.Arg573Leu) c.1781G>T (p.Arg594Leu) c.1856G>T (p.Arg619Leu) c.1814G>T (p.Arg605Leu) c.1778G>T (p.Arg593Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296661C>A | CA415880098 | KIF1B | c.*891C>A (n.*891C>A) c.1719C>A (p.Arg573=) c.1782C>A (p.Arg594=) c.1857C>A (p.Arg619=) c.1815C>A (p.Arg605=) c.1779C>A (p.Arg593=) | |
1 | g.10296661C>G | CA415880100 | KIF1B | c.*891C>G (n.*891C>G) c.1719C>G (p.Arg573=) c.1782C>G (p.Arg594=) c.1857C>G (p.Arg619=) c.1815C>G (p.Arg605=) c.1779C>G (p.Arg593=) | |
1 | g.10296661C>T | CA415880099 | KIF1B | c.*891C>T (n.*891C>T) c.1719C>T (p.Arg573=) c.1782C>T (p.Arg594=) c.1857C>T (p.Arg619=) c.1815C>T (p.Arg605=) c.1779C>T (p.Arg593=) | |
1 | g.10296662T>A | CA338316233 | KIF1B | c.*892T>A (n.*892T>A) c.1720T>A (p.Ser574Thr) c.1783T>A (p.Ser595Thr) c.1858T>A (p.Ser620Thr) c.1816T>A (p.Ser606Thr) c.1780T>A (p.Ser594Thr) | |
1 | g.10296662T>C | CA338316266 | KIF1B | c.*892T>C (n.*892T>C) c.1720T>C (p.Ser574Pro) c.1783T>C (p.Ser595Pro) c.1858T>C (p.Ser620Pro) c.1816T>C (p.Ser606Pro) c.1780T>C (p.Ser594Pro) | |
1 | g.10296662T>G | CA338316273 | KIF1B | c.*892T>G (n.*892T>G) c.1720T>G (p.Ser574Ala) c.1783T>G (p.Ser595Ala) c.1858T>G (p.Ser620Ala) c.1816T>G (p.Ser606Ala) c.1780T>G (p.Ser594Ala) | |
1 | g.10296663C>A | CA338316295 | KIF1B | c.*893C>A (n.*893C>A) c.1721C>A (p.Ser574Ter) c.1784C>A (p.Ser595Ter) c.1859C>A (p.Ser620Ter) c.1817C>A (p.Ser606Ter) c.1781C>A (p.Ser594Ter) | |
1 | g.10296663C>G | CA338316299 | KIF1B | c.*893C>G (n.*893C>G) c.1721C>G (p.Ser574Ter) c.1784C>G (p.Ser595Ter) c.1859C>G (p.Ser620Ter) c.1817C>G (p.Ser606Ter) c.1781C>G (p.Ser594Ter) | |
1 | g.10296663C>T | CA338316300 | KIF1B | c.*893C>T (n.*893C>T) c.1721C>T (p.Ser574Leu) c.1784C>T (p.Ser595Leu) c.1859C>T (p.Ser620Leu) c.1817C>T (p.Ser606Leu) c.1781C>T (p.Ser594Leu) | |
1 | g.10296664A= | CA1153149595 | KIF1B | c.*894A= (n.*894A=) c.1722A= (p.Ser574=) c.1785A= (p.Ser595=) c.1860A= (p.Ser620=) c.1818A= (p.Ser606=) c.1782A= (p.Ser594=) | |
1 | g.10296664A>C | CA415880101 | KIF1B | c.*894A>C (n.*894A>C) c.1722A>C (p.Ser574=) c.1785A>C (p.Ser595=) c.1860A>C (p.Ser620=) c.1818A>C (p.Ser606=) c.1782A>C (p.Ser594=) | |
1 | g.10296664A>G | CA415880102 | KIF1B | c.*894A>G (n.*894A>G) c.1722A>G (p.Ser574=) c.1785A>G (p.Ser595=) c.1860A>G (p.Ser620=) c.1818A>G (p.Ser606=) c.1782A>G (p.Ser594=) | dbSNP gnomAD v4 |
1 | g.10296664A>T | CA415880103 | KIF1B | c.*894A>T (n.*894A>T) c.1722A>T (p.Ser574=) c.1785A>T (p.Ser595=) c.1860A>T (p.Ser620=) c.1818A>T (p.Ser606=) c.1782A>T (p.Ser594=) | dbSNP |
1 | g.10296665G>A | CA338316301 | KIF1B | c.*895G>A (n.*895G>A) c.1723G>A (p.Gly575Arg) c.1786G>A (p.Gly596Arg) c.1861G>A (p.Gly621Arg) c.1819G>A (p.Gly607Arg) c.1783G>A (p.Gly595Arg) | |
1 | g.10296665G>C | CA338316302 | KIF1B | c.*895G>C (n.*895G>C) c.1723G>C (p.Gly575Arg) c.1786G>C (p.Gly596Arg) c.1861G>C (p.Gly621Arg) c.1819G>C (p.Gly607Arg) c.1783G>C (p.Gly595Arg) | |
1 | g.10296665G>T | CA338316306 | KIF1B | c.*895G>T (n.*895G>T) c.1723G>T (p.Gly575Ter) c.1786G>T (p.Gly596Ter) c.1861G>T (p.Gly621Ter) c.1819G>T (p.Gly607Ter) c.1783G>T (p.Gly595Ter) | |
1 | g.10296666G>A | CA338316319 | KIF1B | c.*895+1G>A (n.*895+1G>A) c.1723+1G>A (n.1723+1G>A) c.1786+1G>A (n.1786+1G>A) c.1861+1G>A (n.1861+1G>A) c.1819+1G>A (n.1819+1G>A) c.1783+1G>A (n.1783+1G>A) | |
1 | g.10296666G>C | CA338316322 | KIF1B | c.*895+1G>C (n.*895+1G>C) c.1723+1G>C (n.1723+1G>C) c.1786+1G>C (n.1786+1G>C) c.1861+1G>C (n.1861+1G>C) c.1819+1G>C (n.1819+1G>C) c.1783+1G>C (n.1783+1G>C) | |
1 | g.10296666G>T | CA338316311 | KIF1B | c.*895+1G>T (n.*895+1G>T) c.1723+1G>T (n.1723+1G>T) c.1786+1G>T (n.1786+1G>T) c.1861+1G>T (n.1861+1G>T) c.1819+1G>T (n.1819+1G>T) c.1783+1G>T (n.1783+1G>T) | |
1 | g.10296667T>A | CA338316325 | KIF1B | c.*895+2T>A (n.*895+2T>A) c.1723+2T>A (n.1723+2T>A) c.1786+2T>A (n.1786+2T>A) c.1861+2T>A (n.1861+2T>A) c.1819+2T>A (n.1819+2T>A) c.1783+2T>A (n.1783+2T>A) | |
1 | g.10296667T>C | CA338316328 | KIF1B | c.*895+2T>C (n.*895+2T>C) c.1723+2T>C (n.1723+2T>C) c.1786+2T>C (n.1786+2T>C) c.1861+2T>C (n.1861+2T>C) c.1819+2T>C (n.1819+2T>C) c.1783+2T>C (n.1783+2T>C) | |
1 | g.10296667T>G | CA338316343 | KIF1B | c.*895+2T>G (n.*895+2T>G) c.1723+2T>G (n.1723+2T>G) c.1786+2T>G (n.1786+2T>G) c.1861+2T>G (n.1861+2T>G) c.1819+2T>G (n.1819+2T>G) c.1783+2T>G (n.1783+2T>G) | |
1 | g.10296668G>A | CA2580060452 | KIF1B | c.*895+3G>A (n.*895+3G>A) c.1723+3G>A (n.1723+3G>A) c.1786+3G>A (n.1786+3G>A) c.1861+3G>A (n.1861+3G>A) c.1819+3G>A (n.1819+3G>A) c.1783+3G>A (n.1783+3G>A) | ClinVar |
1 | g.10296668G>T | CA2643178601 | KIF1B | c.*895+3G>T (n.*895+3G>T) c.1723+3G>T (n.1723+3G>T) c.1786+3G>T (n.1786+3G>T) c.1861+3G>T (n.1861+3G>T) c.1819+3G>T (n.1819+3G>T) c.1783+3G>T (n.1783+3G>T) | gnomAD v4 |
1 | g.10296669_10296670insACA | CA2574206071 | KIF1B | c.*895+4_*895+5insACA (n.*895+4_*895+5insACA) c.1723+4_1723+5insACA (n.1723+4_1723+5insACA) c.1786+4_1786+5insACA (n.1786+4_1786+5insACA) c.1861+4_1861+5insACA (n.1861+4_1861+5insACA) c.1819+4_1819+5insACA (n.1819+4_1819+5insACA) c.1783+4_1783+5insACA (n.1783+4_1783+5insACA) | |
1 | g.10296671A>G | CA2574206072 | KIF1B | c.*895+6A>G (n.*895+6A>G) c.1723+6A>G (n.1723+6A>G) c.1786+6A>G (n.1786+6A>G) c.1861+6A>G (n.1861+6A>G) c.1819+6A>G (n.1819+6A>G) c.1783+6A>G (n.1783+6A>G) | |
1 | g.10296672C>G | CA2570822495 | KIF1B | c.*895+7C>G (n.*895+7C>G) c.1723+7C>G (n.1723+7C>G) c.1786+7C>G (n.1786+7C>G) c.1861+7C>G (n.1861+7C>G) c.1819+7C>G (n.1819+7C>G) c.1783+7C>G (n.1783+7C>G) | |
1 | g.10296674G>A | CA521143594 | KIF1B | c.*895+9G>A (n.*895+9G>A) c.1723+9G>A (n.1723+9G>A) c.1786+9G>A (n.1786+9G>A) c.1861+9G>A (n.1861+9G>A) c.1819+9G>A (n.1819+9G>A) c.1783+9G>A (n.1783+9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296674G= | CA1153149600 | KIF1B | c.*895+9G= (n.*895+9G=) c.1723+9G= (n.1723+9G=) c.1786+9G= (n.1786+9G=) c.1861+9G= (n.1861+9G=) c.1819+9G= (n.1819+9G=) c.1783+9G= (n.1783+9G=) | |
1 | g.10296675G>A | CA1153149604 | KIF1B | c.*895+10G>A (n.*895+10G>A) c.1723+10G>A (n.1723+10G>A) c.1786+10G>A (n.1786+10G>A) c.1861+10G>A (n.1861+10G>A) c.1819+10G>A (n.1819+10G>A) c.1783+10G>A (n.1783+10G>A) | dbSNP |
1 | g.10296675G= | CA1153149602 | KIF1B | c.*895+10G= (n.*895+10G=) c.1723+10G= (n.1723+10G=) c.1786+10G= (n.1786+10G=) c.1861+10G= (n.1861+10G=) c.1819+10G= (n.1819+10G=) c.1783+10G= (n.1783+10G=) | |
1 | g.10296676G>A | CA521143595 | KIF1B | c.*895+11G>A (n.*895+11G>A) c.1723+11G>A (n.1723+11G>A) c.1786+11G>A (n.1786+11G>A) c.1861+11G>A (n.1861+11G>A) c.1819+11G>A (n.1819+11G>A) c.1783+11G>A (n.1783+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10296676G= | CA1153149607 | KIF1B | c.*895+11G= (n.*895+11G=) c.1723+11G= (n.1723+11G=) c.1786+11G= (n.1786+11G=) c.1861+11G= (n.1861+11G=) c.1819+11G= (n.1819+11G=) c.1783+11G= (n.1783+11G=) | |
1 | g.10296677_10296680dup | CA1153149606 | KIF1B | c.*895+12_*895+15dup (n.*895+12_*895+15dup) c.1723+12_1723+15dup (n.1723+12_1723+15dup) c.1786+12_1786+15dup (n.1786+12_1786+15dup) c.1861+12_1861+15dup (n.1861+12_1861+15dup) c.1819+12_1819+15dup (n.1819+12_1819+15dup) c.1783+12_1783+15dup (n.1783+12_1783+15dup) | dbSNP |
1 | g.10296677A>G | CA2697552157 | KIF1B | c.*895+12A>G (n.*895+12A>G) c.1723+12A>G (n.1723+12A>G) c.1786+12A>G (n.1786+12A>G) c.1861+12A>G (n.1861+12A>G) c.1819+12A>G (n.1819+12A>G) c.1783+12A>G (n.1783+12A>G) | ClinVar |
1 | g.10296678G>A | CA2574206073 | KIF1B | c.*895+13G>A (n.*895+13G>A) c.1723+13G>A (n.1723+13G>A) c.1786+13G>A (n.1786+13G>A) c.1861+13G>A (n.1861+13G>A) c.1819+13G>A (n.1819+13G>A) c.1783+13G>A (n.1783+13G>A) | |
1 | g.10296679A= | CA1153149611 | KIF1B | c.*895+14A= (n.*895+14A=) c.1723+14A= (n.1723+14A=) c.1786+14A= (n.1786+14A=) c.1861+14A= (n.1861+14A=) c.1819+14A= (n.1819+14A=) c.1783+14A= (n.1783+14A=) | |
1 | g.10296679A>G | CA521143596 | KIF1B | c.*895+14A>G (n.*895+14A>G) c.1723+14A>G (n.1723+14A>G) c.1786+14A>G (n.1786+14A>G) c.1861+14A>G (n.1861+14A>G) c.1819+14A>G (n.1819+14A>G) c.1783+14A>G (n.1783+14A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296680G>A | CA1153149618 | KIF1B | c.*895+15G>A (n.*895+15G>A) c.1723+15G>A (n.1723+15G>A) c.1786+15G>A (n.1786+15G>A) c.1861+15G>A (n.1861+15G>A) c.1819+15G>A (n.1819+15G>A) c.1783+15G>A (n.1783+15G>A) | dbSNP gnomAD v4 |
1 | g.10296680G>C | CA581102 | KIF1B | c.*895+15G>C (n.*895+15G>C) c.1723+15G>C (n.1723+15G>C) c.1786+15G>C (n.1786+15G>C) c.1861+15G>C (n.1861+15G>C) c.1819+15G>C (n.1819+15G>C) c.1783+15G>C (n.1783+15G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296680G= | CA1148406926 | KIF1B | c.*895+15G= (n.*895+15G=) c.1723+15G= (n.1723+15G=) c.1786+15G= (n.1786+15G=) c.1861+15G= (n.1861+15G=) c.1819+15G= (n.1819+15G=) c.1783+15G= (n.1783+15G=) | |
1 | g.10296683T>A | CA2545680915 | KIF1B | c.*895+18T>A (n.*895+18T>A) c.1723+18T>A (n.1723+18T>A) c.1786+18T>A (n.1786+18T>A) c.1861+18T>A (n.1861+18T>A) c.1819+18T>A (n.1819+18T>A) c.1783+18T>A (n.1783+18T>A) | |
1 | g.10296685G>A | CA645652008 | KIF1B | c.*895+20G>A (n.*895+20G>A) c.1723+20G>A (n.1723+20G>A) c.1786+20G>A (n.1786+20G>A) c.1861+20G>A (n.1861+20G>A) c.1819+20G>A (n.1819+20G>A) c.1783+20G>A (n.1783+20G>A) | COSMIC |
1 | g.10296686C>A | CA2643178602 | KIF1B | c.*895+21C>A (n.*895+21C>A) c.1723+21C>A (n.1723+21C>A) c.1786+21C>A (n.1786+21C>A) c.1861+21C>A (n.1861+21C>A) c.1819+21C>A (n.1819+21C>A) c.1783+21C>A (n.1783+21C>A) | gnomAD v4 |
1 | g.10296686C>T | CA2643178603 | KIF1B | c.*895+21C>T (n.*895+21C>T) c.1723+21C>T (n.1723+21C>T) c.1786+21C>T (n.1786+21C>T) c.1861+21C>T (n.1861+21C>T) c.1819+21C>T (n.1819+21C>T) c.1783+21C>T (n.1783+21C>T) | gnomAD v4 |
1 | g.10296687C>A | CA2643178604 | KIF1B | c.*895+22C>A (n.*895+22C>A) c.1723+22C>A (n.1723+22C>A) c.1786+22C>A (n.1786+22C>A) c.1861+22C>A (n.1861+22C>A) c.1819+22C>A (n.1819+22C>A) c.1783+22C>A (n.1783+22C>A) | gnomAD v4 |
1 | g.10296687C>T | CA2574206074 | KIF1B | c.*895+22C>T (n.*895+22C>T) c.1723+22C>T (n.1723+22C>T) c.1786+22C>T (n.1786+22C>T) c.1861+22C>T (n.1861+22C>T) c.1819+22C>T (n.1819+22C>T) c.1783+22C>T (n.1783+22C>T) | |
1 | g.10296688A= | CA1153149622 | KIF1B | c.*895+23A= (n.*895+23A=) c.1723+23A= (n.1723+23A=) c.1786+23A= (n.1786+23A=) c.1861+23A= (n.1861+23A=) c.1819+23A= (n.1819+23A=) c.1783+23A= (n.1783+23A=) | |
1 | g.10296688A>G | CA17813620 | KIF1B | c.*895+23A>G (n.*895+23A>G) c.1723+23A>G (n.1723+23A>G) c.1786+23A>G (n.1786+23A>G) c.1861+23A>G (n.1861+23A>G) c.1819+23A>G (n.1819+23A>G) c.1783+23A>G (n.1783+23A>G) | dbSNP gnomAD v4 |
1 | g.10296689T>A | CA998503804 | KIF1B | c.*895+24T>A (n.*895+24T>A) c.1723+24T>A (n.1723+24T>A) c.1786+24T>A (n.1786+24T>A) c.1861+24T>A (n.1861+24T>A) c.1819+24T>A (n.1819+24T>A) c.1783+24T>A (n.1783+24T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10296689T= | CA1153149626 | KIF1B | c.*895+24T= (n.*895+24T=) c.1723+24T= (n.1723+24T=) c.1786+24T= (n.1786+24T=) c.1861+24T= (n.1861+24T=) c.1819+24T= (n.1819+24T=) c.1783+24T= (n.1783+24T=) | |
1 | g.10296690C>A | CA2643178605 | KIF1B | c.*895+25C>A (n.*895+25C>A) c.1723+25C>A (n.1723+25C>A) c.1786+25C>A (n.1786+25C>A) c.1861+25C>A (n.1861+25C>A) c.1819+25C>A (n.1819+25C>A) c.1783+25C>A (n.1783+25C>A) | gnomAD v4 |
1 | g.10296690C= | CA1145999135 | KIF1B | c.*895+25C= (n.*895+25C=) c.1723+25C= (n.1723+25C=) c.1786+25C= (n.1786+25C=) c.1861+25C= (n.1861+25C=) c.1819+25C= (n.1819+25C=) c.1783+25C= (n.1783+25C=) | |
1 | g.10296690C>T | CA581103 | KIF1B | c.*895+25C>T (n.*895+25C>T) c.1723+25C>T (n.1723+25C>T) c.1786+25C>T (n.1786+25C>T) c.1861+25C>T (n.1861+25C>T) c.1819+25C>T (n.1819+25C>T) c.1783+25C>T (n.1783+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10296693del | CA2574206075 | KIF1B | c.*895+28del (n.*895+28del) c.1723+28del (n.1723+28del) c.1786+28del (n.1786+28del) c.1861+28del (n.1861+28del) c.1819+28del (n.1819+28del) c.1783+28del (n.1783+28del) | |
1 | g.10296693C>A | CA17813647 | KIF1B | c.*895+28C>A (n.*895+28C>A) c.1723+28C>A (n.1723+28C>A) c.1786+28C>A (n.1786+28C>A) c.1861+28C>A (n.1861+28C>A) c.1819+28C>A (n.1819+28C>A) c.1783+28C>A (n.1783+28C>A) | dbSNP gnomAD v4 |
1 | g.10296693C= | CA1153149629 | KIF1B | c.*895+28C= (n.*895+28C=) c.1723+28C= (n.1723+28C=) c.1786+28C= (n.1786+28C=) c.1861+28C= (n.1861+28C=) c.1819+28C= (n.1819+28C=) c.1783+28C= (n.1783+28C=) | |
1 | g.10296693C>T | CA581104 | KIF1B | c.*895+28C>T (n.*895+28C>T) c.1723+28C>T (n.1723+28C>T) c.1786+28C>T (n.1786+28C>T) c.1861+28C>T (n.1861+28C>T) c.1819+28C>T (n.1819+28C>T) c.1783+28C>T (n.1783+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10296695G>C | CA2643178606 | KIF1B | c.*895+30G>C (n.*895+30G>C) c.1723+30G>C (n.1723+30G>C) c.1786+30G>C (n.1786+30G>C) c.1861+30G>C (n.1861+30G>C) c.1819+30G>C (n.1819+30G>C) c.1783+30G>C (n.1783+30G>C) | gnomAD v4 |
1 | g.10296696C>A | CA2574206076 | KIF1B | c.*895+31C>A (n.*895+31C>A) c.1723+31C>A (n.1723+31C>A) c.1786+31C>A (n.1786+31C>A) c.1861+31C>A (n.1861+31C>A) c.1819+31C>A (n.1819+31C>A) c.1783+31C>A (n.1783+31C>A) | gnomAD v4 |
1 | g.10296697A= | CA1153149634 | KIF1B | c.*895+32A= (n.*895+32A=) c.1723+32A= (n.1723+32A=) c.1786+32A= (n.1786+32A=) c.1861+32A= (n.1861+32A=) c.1819+32A= (n.1819+32A=) c.1783+32A= (n.1783+32A=) | |
1 | g.10296697A>C | CA1153149635 | KIF1B | c.*895+32A>C (n.*895+32A>C) c.1723+32A>C (n.1723+32A>C) c.1786+32A>C (n.1786+32A>C) c.1861+32A>C (n.1861+32A>C) c.1819+32A>C (n.1819+32A>C) c.1783+32A>C (n.1783+32A>C) | dbSNP gnomAD v4 |