Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.10319994del | CA1153153567 | KIF1B | c.1978-49del (n.1978-49del) c.2041-49del (n.2041-49del) c.2116-49del (n.2116-49del) c.2074-49del (n.2074-49del) c.2038-49del (n.2038-49del) | dbSNP gnomAD v4 |
1 | g.10319995T>C | CA2643180007 | KIF1B | c.1978-48T>C (n.1978-48T>C) c.2041-48T>C (n.2041-48T>C) c.2116-48T>C (n.2116-48T>C) c.2074-48T>C (n.2074-48T>C) c.2038-48T>C (n.2038-48T>C) | gnomAD v4 |
1 | g.10319995T>G | CA521146904 | KIF1B | c.1978-48T>G (n.1978-48T>G) c.2041-48T>G (n.2041-48T>G) c.2116-48T>G (n.2116-48T>G) c.2074-48T>G (n.2074-48T>G) c.2038-48T>G (n.2038-48T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10319995T= | CA1153153568 | KIF1B | c.1978-48T= (n.1978-48T=) c.2041-48T= (n.2041-48T=) c.2116-48T= (n.2116-48T=) c.2074-48T= (n.2074-48T=) c.2038-48T= (n.2038-48T=) | |
1 | g.10319996C>A | CA2643180008 | KIF1B | c.1978-47C>A (n.1978-47C>A) c.2041-47C>A (n.2041-47C>A) c.2116-47C>A (n.2116-47C>A) c.2074-47C>A (n.2074-47C>A) c.2038-47C>A (n.2038-47C>A) | gnomAD v4 |
1 | g.10319996C= | CA1153153576 | KIF1B | c.1978-47C= (n.1978-47C=) c.2041-47C= (n.2041-47C=) c.2116-47C= (n.2116-47C=) c.2074-47C= (n.2074-47C=) c.2038-47C= (n.2038-47C=) | |
1 | g.10319996C>T | CA581456 | KIF1B | c.1978-47C>T (n.1978-47C>T) c.2041-47C>T (n.2041-47C>T) c.2116-47C>T (n.2116-47C>T) c.2074-47C>T (n.2074-47C>T) c.2038-47C>T (n.2038-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10319998dup | CA2643180009 | KIF1B | c.1978-45dup (n.1978-45dup) c.2041-45dup (n.2041-45dup) c.2116-45dup (n.2116-45dup) c.2074-45dup (n.2074-45dup) c.2038-45dup (n.2038-45dup) | gnomAD v4 |
1 | g.10319998T>A | CA1153153585 | KIF1B | c.1978-45T>A (n.1978-45T>A) c.2041-45T>A (n.2041-45T>A) c.2116-45T>A (n.2116-45T>A) c.2074-45T>A (n.2074-45T>A) c.2038-45T>A (n.2038-45T>A) | dbSNP |
1 | g.10319998T= | CA1153153582 | KIF1B | c.1978-45T= (n.1978-45T=) c.2041-45T= (n.2041-45T=) c.2116-45T= (n.2116-45T=) c.2074-45T= (n.2074-45T=) c.2038-45T= (n.2038-45T=) | |
1 | g.10319999A= | CA1153153587 | KIF1B | c.1978-44A= (n.1978-44A=) c.2041-44A= (n.2041-44A=) c.2116-44A= (n.2116-44A=) c.2074-44A= (n.2074-44A=) c.2038-44A= (n.2038-44A=) | |
1 | g.10319999A>G | CA521146907 | KIF1B | c.1978-44A>G (n.1978-44A>G) c.2041-44A>G (n.2041-44A>G) c.2116-44A>G (n.2116-44A>G) c.2074-44A>G (n.2074-44A>G) c.2038-44A>G (n.2038-44A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320000T>A | CA2742435924 | KIF1B | c.1978-43T>A (n.1978-43T>A) c.2041-43T>A (n.2041-43T>A) c.2116-43T>A (n.2116-43T>A) c.2074-43T>A (n.2074-43T>A) c.2038-43T>A (n.2038-43T>A) | |
1 | g.10320000T>C | CA884733538 | KIF1B | c.1978-43T>C (n.1978-43T>C) c.2041-43T>C (n.2041-43T>C) c.2116-43T>C (n.2116-43T>C) c.2074-43T>C (n.2074-43T>C) c.2038-43T>C (n.2038-43T>C) | dbSNP gnomAD v4 |
1 | g.10320000T= | CA1153153592 | KIF1B | c.1978-43T= (n.1978-43T=) c.2041-43T= (n.2041-43T=) c.2116-43T= (n.2116-43T=) c.2074-43T= (n.2074-43T=) c.2038-43T= (n.2038-43T=) | |
1 | g.10320001T>G | CA2643180010 | KIF1B | c.1978-42T>G (n.1978-42T>G) c.2041-42T>G (n.2041-42T>G) c.2116-42T>G (n.2116-42T>G) c.2074-42T>G (n.2074-42T>G) c.2038-42T>G (n.2038-42T>G) | gnomAD v4 |
1 | g.10320002T>G | CA1153153595 | KIF1B | c.1978-41T>G (n.1978-41T>G) c.2041-41T>G (n.2041-41T>G) c.2116-41T>G (n.2116-41T>G) c.2074-41T>G (n.2074-41T>G) c.2038-41T>G (n.2038-41T>G) | dbSNP |
1 | g.10320002T= | CA1153153594 | KIF1B | c.1978-41T= (n.1978-41T=) c.2041-41T= (n.2041-41T=) c.2116-41T= (n.2116-41T=) c.2074-41T= (n.2074-41T=) c.2038-41T= (n.2038-41T=) | |
1 | g.10320003C>A | CA2643180011 | KIF1B | c.1978-40C>A (n.1978-40C>A) c.2041-40C>A (n.2041-40C>A) c.2116-40C>A (n.2116-40C>A) c.2074-40C>A (n.2074-40C>A) c.2038-40C>A (n.2038-40C>A) | gnomAD v4 |
1 | g.10320005T>G | CA2643180012 | KIF1B | c.1978-38T>G (n.1978-38T>G) c.2041-38T>G (n.2041-38T>G) c.2116-38T>G (n.2116-38T>G) c.2074-38T>G (n.2074-38T>G) c.2038-38T>G (n.2038-38T>G) | gnomAD v4 |
1 | g.10320006C>A | CA2574205958 | KIF1B | c.1978-37C>A (n.1978-37C>A) c.2041-37C>A (n.2041-37C>A) c.2116-37C>A (n.2116-37C>A) c.2074-37C>A (n.2074-37C>A) c.2038-37C>A (n.2038-37C>A) | |
1 | g.10320006C>T | CA2574205959 | KIF1B | c.1978-37C>T (n.1978-37C>T) c.2041-37C>T (n.2041-37C>T) c.2116-37C>T (n.2116-37C>T) c.2074-37C>T (n.2074-37C>T) c.2038-37C>T (n.2038-37C>T) | gnomAD v4 |
1 | g.10320007C>A | CA1153153599 | KIF1B | c.1978-36C>A (n.1978-36C>A) c.2041-36C>A (n.2041-36C>A) c.2116-36C>A (n.2116-36C>A) c.2074-36C>A (n.2074-36C>A) c.2038-36C>A (n.2038-36C>A) | dbSNP |
1 | g.10320007C= | CA1153153597 | KIF1B | c.1978-36C= (n.1978-36C=) c.2041-36C= (n.2041-36C=) c.2116-36C= (n.2116-36C=) c.2074-36C= (n.2074-36C=) c.2038-36C= (n.2038-36C=) | |
1 | g.10320007C>G | CA2643180013 | KIF1B | c.1978-36C>G (n.1978-36C>G) c.2041-36C>G (n.2041-36C>G) c.2116-36C>G (n.2116-36C>G) c.2074-36C>G (n.2074-36C>G) c.2038-36C>G (n.2038-36C>G) | gnomAD v4 |
1 | g.10320007C>T | CA521146909 | KIF1B | c.1978-36C>T (n.1978-36C>T) c.2041-36C>T (n.2041-36C>T) c.2116-36C>T (n.2116-36C>T) c.2074-36C>T (n.2074-36C>T) c.2038-36C>T (n.2038-36C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320008C>A | CA2643180014 | KIF1B | c.1978-35C>A (n.1978-35C>A) c.2041-35C>A (n.2041-35C>A) c.2116-35C>A (n.2116-35C>A) c.2074-35C>A (n.2074-35C>A) c.2038-35C>A (n.2038-35C>A) | gnomAD v4 |
1 | g.10320008C= | CA1153153602 | KIF1B | c.1978-35C= (n.1978-35C=) c.2041-35C= (n.2041-35C=) c.2116-35C= (n.2116-35C=) c.2074-35C= (n.2074-35C=) c.2038-35C= (n.2038-35C=) | |
1 | g.10320008C>T | CA17830930 | KIF1B | c.1978-35C>T (n.1978-35C>T) c.2041-35C>T (n.2041-35C>T) c.2116-35C>T (n.2116-35C>T) c.2074-35C>T (n.2074-35C>T) c.2038-35C>T (n.2038-35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320010C>A | CA17830941 | KIF1B | c.1978-33C>A (n.1978-33C>A) c.2041-33C>A (n.2041-33C>A) c.2116-33C>A (n.2116-33C>A) c.2074-33C>A (n.2074-33C>A) c.2038-33C>A (n.2038-33C>A) | dbSNP gnomAD v4 |
1 | g.10320010C= | CA1153153604 | KIF1B | c.1978-33C= (n.1978-33C=) c.2041-33C= (n.2041-33C=) c.2116-33C= (n.2116-33C=) c.2074-33C= (n.2074-33C=) c.2038-33C= (n.2038-33C=) | |
1 | g.10320010C>T | CA1153153605 | KIF1B | c.1978-33C>T (n.1978-33C>T) c.2041-33C>T (n.2041-33C>T) c.2116-33C>T (n.2116-33C>T) c.2074-33C>T (n.2074-33C>T) c.2038-33C>T (n.2038-33C>T) | dbSNP |
1 | g.10320012C>A | CA2643180015 | KIF1B | c.1978-31C>A (n.1978-31C>A) c.2041-31C>A (n.2041-31C>A) c.2116-31C>A (n.2116-31C>A) c.2074-31C>A (n.2074-31C>A) c.2038-31C>A (n.2038-31C>A) | gnomAD v4 |
1 | g.10320013C>A | CA2643180016 | KIF1B | c.1978-30C>A (n.1978-30C>A) c.2041-30C>A (n.2041-30C>A) c.2116-30C>A (n.2116-30C>A) c.2074-30C>A (n.2074-30C>A) c.2038-30C>A (n.2038-30C>A) | gnomAD v4 |
1 | g.10320013C= | CA1153153610 | KIF1B | c.1978-30C= (n.1978-30C=) c.2041-30C= (n.2041-30C=) c.2116-30C= (n.2116-30C=) c.2074-30C= (n.2074-30C=) c.2038-30C= (n.2038-30C=) | |
1 | g.10320013C>T | CA521146911 | KIF1B | c.1978-30C>T (n.1978-30C>T) c.2041-30C>T (n.2041-30C>T) c.2116-30C>T (n.2116-30C>T) c.2074-30C>T (n.2074-30C>T) c.2038-30C>T (n.2038-30C>T) | dbSNP gnomAD v2 |
1 | g.10320014T>C | CA2643180017 | KIF1B | c.1978-29T>C (n.1978-29T>C) c.2041-29T>C (n.2041-29T>C) c.2116-29T>C (n.2116-29T>C) c.2074-29T>C (n.2074-29T>C) c.2038-29T>C (n.2038-29T>C) | gnomAD v4 |
1 | g.10320015A= | CA1153153613 | KIF1B | c.1978-28A= (n.1978-28A=) c.2041-28A= (n.2041-28A=) c.2116-28A= (n.2116-28A=) c.2074-28A= (n.2074-28A=) c.2038-28A= (n.2038-28A=) | |
1 | g.10320015A>C | CA17830942 | KIF1B | c.1978-28A>C (n.1978-28A>C) c.2041-28A>C (n.2041-28A>C) c.2116-28A>C (n.2116-28A>C) c.2074-28A>C (n.2074-28A>C) c.2038-28A>C (n.2038-28A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320015A>G | CA2643180018 | KIF1B | c.1978-28A>G (n.1978-28A>G) c.2041-28A>G (n.2041-28A>G) c.2116-28A>G (n.2116-28A>G) c.2074-28A>G (n.2074-28A>G) c.2038-28A>G (n.2038-28A>G) | gnomAD v4 |
1 | g.10320016C>A | CA2643180019 | KIF1B | c.1978-27C>A (n.1978-27C>A) c.2041-27C>A (n.2041-27C>A) c.2116-27C>A (n.2116-27C>A) c.2074-27C>A (n.2074-27C>A) c.2038-27C>A (n.2038-27C>A) | gnomAD v4 |
1 | g.10320016C= | CA1153153614 | KIF1B | c.1978-27C= (n.1978-27C=) c.2041-27C= (n.2041-27C=) c.2116-27C= (n.2116-27C=) c.2074-27C= (n.2074-27C=) c.2038-27C= (n.2038-27C=) | |
1 | g.10320016C>T | CA1153153615 | KIF1B | c.1978-27C>T (n.1978-27C>T) c.2041-27C>T (n.2041-27C>T) c.2116-27C>T (n.2116-27C>T) c.2074-27C>T (n.2074-27C>T) c.2038-27C>T (n.2038-27C>T) | dbSNP gnomAD v4 |
1 | g.10320017A= | CA1153153617 | KIF1B | c.1978-26A= (n.1978-26A=) c.2041-26A= (n.2041-26A=) c.2116-26A= (n.2116-26A=) c.2074-26A= (n.2074-26A=) c.2038-26A= (n.2038-26A=) | |
1 | g.10320017A>G | CA17830944 | KIF1B | c.1978-26A>G (n.1978-26A>G) c.2041-26A>G (n.2041-26A>G) c.2116-26A>G (n.2116-26A>G) c.2074-26A>G (n.2074-26A>G) c.2038-26A>G (n.2038-26A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.10320017A>T | CA2574205963 | KIF1B | c.1978-26A>T (n.1978-26A>T) c.2041-26A>T (n.2041-26A>T) c.2116-26A>T (n.2116-26A>T) c.2074-26A>T (n.2074-26A>T) c.2038-26A>T (n.2038-26A>T) | gnomAD v4 |
1 | g.10320019G>A | CA884733548 | KIF1B | c.1978-24G>A (n.1978-24G>A) c.2041-24G>A (n.2041-24G>A) c.2116-24G>A (n.2116-24G>A) c.2074-24G>A (n.2074-24G>A) c.2038-24G>A (n.2038-24G>A) | dbSNP gnomAD v4 |
1 | g.10320019G= | CA1153153619 | KIF1B | c.1978-24G= (n.1978-24G=) c.2041-24G= (n.2041-24G=) c.2116-24G= (n.2116-24G=) c.2074-24G= (n.2074-24G=) c.2038-24G= (n.2038-24G=) | |
1 | g.10320020T>C | CA2643180020 | KIF1B | c.1978-23T>C (n.1978-23T>C) c.2041-23T>C (n.2041-23T>C) c.2116-23T>C (n.2116-23T>C) c.2074-23T>C (n.2074-23T>C) c.2038-23T>C (n.2038-23T>C) | gnomAD v4 |
1 | g.10320021T>C | CA521146913 | KIF1B | c.1978-22T>C (n.1978-22T>C) c.2041-22T>C (n.2041-22T>C) c.2116-22T>C (n.2116-22T>C) c.2074-22T>C (n.2074-22T>C) c.2038-22T>C (n.2038-22T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320021T= | CA1153153623 | KIF1B | c.1978-22T= (n.1978-22T=) c.2041-22T= (n.2041-22T=) c.2116-22T= (n.2116-22T=) c.2074-22T= (n.2074-22T=) c.2038-22T= (n.2038-22T=) | |
1 | g.10320022A= | CA1153153627 | KIF1B | c.1978-21A= (n.1978-21A=) c.2041-21A= (n.2041-21A=) c.2116-21A= (n.2116-21A=) c.2074-21A= (n.2074-21A=) c.2038-21A= (n.2038-21A=) | |
1 | g.10320022A>G | CA521146914 | KIF1B | c.1978-21A>G (n.1978-21A>G) c.2041-21A>G (n.2041-21A>G) c.2116-21A>G (n.2116-21A>G) c.2074-21A>G (n.2074-21A>G) c.2038-21A>G (n.2038-21A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320023T>C | CA2643180022 | KIF1B | c.1978-20T>C (n.1978-20T>C) c.2041-20T>C (n.2041-20T>C) c.2116-20T>C (n.2116-20T>C) c.2074-20T>C (n.2074-20T>C) c.2038-20T>C (n.2038-20T>C) | gnomAD v4 |
1 | g.10320024C>A | CA2643180023 | KIF1B | c.1978-19C>A (n.1978-19C>A) c.2041-19C>A (n.2041-19C>A) c.2116-19C>A (n.2116-19C>A) c.2074-19C>A (n.2074-19C>A) c.2038-19C>A (n.2038-19C>A) | gnomAD v4 |
1 | g.10320025T>C | CA2643180027 | KIF1B | c.1978-18T>C (n.1978-18T>C) c.2041-18T>C (n.2041-18T>C) c.2116-18T>C (n.2116-18T>C) c.2074-18T>C (n.2074-18T>C) c.2038-18T>C (n.2038-18T>C) | gnomAD v4 |
1 | g.10320025T>G | CA581457 | KIF1B | c.1978-18T>G (n.1978-18T>G) c.2041-18T>G (n.2041-18T>G) c.2116-18T>G (n.2116-18T>G) c.2074-18T>G (n.2074-18T>G) c.2038-18T>G (n.2038-18T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320025T= | CA1153153647 | KIF1B | c.1978-18T= (n.1978-18T=) c.2041-18T= (n.2041-18T=) c.2116-18T= (n.2116-18T=) c.2074-18T= (n.2074-18T=) c.2038-18T= (n.2038-18T=) | |
1 | g.10320026C>A | CA2643180029 | KIF1B | c.1978-17C>A (n.1978-17C>A) c.2041-17C>A (n.2041-17C>A) c.2116-17C>A (n.2116-17C>A) c.2074-17C>A (n.2074-17C>A) c.2038-17C>A (n.2038-17C>A) | gnomAD v4 |
1 | g.10320031_10320034del | CA2643180030 | KIF1B | c.1978-12_1978-9del (n.1978-12_1978-9del) c.2041-12_2041-9del (n.2041-12_2041-9del) c.2116-12_2116-9del (n.2116-12_2116-9del) c.2074-12_2074-9del (n.2074-12_2074-9del) c.2038-12_2038-9del (n.2038-12_2038-9del) | gnomAD v4 |
1 | g.10320028T>C | CA2643180031 | KIF1B | c.1978-15T>C (n.1978-15T>C) c.2041-15T>C (n.2041-15T>C) c.2116-15T>C (n.2116-15T>C) c.2074-15T>C (n.2074-15T>C) c.2038-15T>C (n.2038-15T>C) | gnomAD v4 |
1 | g.10320029T>C | CA2574205965 | KIF1B | c.1978-14T>C (n.1978-14T>C) c.2041-14T>C (n.2041-14T>C) c.2116-14T>C (n.2116-14T>C) c.2074-14T>C (n.2074-14T>C) c.2038-14T>C (n.2038-14T>C) | |
1 | g.10320031C>A | CA2643180032 | KIF1B | c.1978-12C>A (n.1978-12C>A) c.2041-12C>A (n.2041-12C>A) c.2116-12C>A (n.2116-12C>A) c.2074-12C>A (n.2074-12C>A) c.2038-12C>A (n.2038-12C>A) | gnomAD v4 |
1 | g.10320031C>T | CA2643180033 | KIF1B | c.1978-12C>T (n.1978-12C>T) c.2041-12C>T (n.2041-12C>T) c.2116-12C>T (n.2116-12C>T) c.2074-12C>T (n.2074-12C>T) c.2038-12C>T (n.2038-12C>T) | gnomAD v4 |
1 | g.10320033T>C | CA2643180034 | KIF1B | c.1978-10T>C (n.1978-10T>C) c.2041-10T>C (n.2041-10T>C) c.2116-10T>C (n.2116-10T>C) c.2074-10T>C (n.2074-10T>C) c.2038-10T>C (n.2038-10T>C) | gnomAD v4 |
1 | g.10320036C>A | CA2643180035 | KIF1B | c.1978-7C>A (n.1978-7C>A) c.2041-7C>A (n.2041-7C>A) c.2116-7C>A (n.2116-7C>A) c.2074-7C>A (n.2074-7C>A) c.2038-7C>A (n.2038-7C>A) | gnomAD v4 |
1 | g.10320036C>T | CA2643180036 | KIF1B | c.1978-7C>T (n.1978-7C>T) c.2041-7C>T (n.2041-7C>T) c.2116-7C>T (n.2116-7C>T) c.2074-7C>T (n.2074-7C>T) c.2038-7C>T (n.2038-7C>T) | gnomAD v4 |
1 | g.10320040C>T | CA2643180037 | KIF1B | c.1978-3C>T (n.1978-3C>T) c.2041-3C>T (n.2041-3C>T) c.2116-3C>T (n.2116-3C>T) c.2074-3C>T (n.2074-3C>T) c.2038-3C>T (n.2038-3C>T) | gnomAD v4 |
1 | g.10320041del | CA2574205966 | KIF1B | c.1978-2del (n.1978-2del) c.2041-2del (n.2041-2del) c.2116-2del (n.2116-2del) c.2074-2del (n.2074-2del) c.2038-2del (n.2038-2del) | |
1 | g.10320041A>C | CA338332218 | KIF1B | c.1978-2A>C (n.1978-2A>C) c.2041-2A>C (n.2041-2A>C) c.2116-2A>C (n.2116-2A>C) c.2074-2A>C (n.2074-2A>C) c.2038-2A>C (n.2038-2A>C) | |
1 | g.10320041A>G | CA338332220 | KIF1B | c.1978-2A>G (n.1978-2A>G) c.2041-2A>G (n.2041-2A>G) c.2116-2A>G (n.2116-2A>G) c.2074-2A>G (n.2074-2A>G) c.2038-2A>G (n.2038-2A>G) | |
1 | g.10320041A>T | CA338332219 | KIF1B | c.1978-2A>T (n.1978-2A>T) c.2041-2A>T (n.2041-2A>T) c.2116-2A>T (n.2116-2A>T) c.2074-2A>T (n.2074-2A>T) c.2038-2A>T (n.2038-2A>T) | |
1 | g.10320042G>A | CA338332221 | KIF1B | c.1978-1G>A (n.1978-1G>A) c.2041-1G>A (n.2041-1G>A) c.2116-1G>A (n.2116-1G>A) c.2074-1G>A (n.2074-1G>A) c.2038-1G>A (n.2038-1G>A) | |
1 | g.10320042G>C | CA338332222 | KIF1B | c.1978-1G>C (n.1978-1G>C) c.2041-1G>C (n.2041-1G>C) c.2116-1G>C (n.2116-1G>C) c.2074-1G>C (n.2074-1G>C) c.2038-1G>C (n.2038-1G>C) | |
1 | g.10320042G>T | CA338332223 | KIF1B | c.1978-1G>T (n.1978-1G>T) c.2041-1G>T (n.2041-1G>T) c.2116-1G>T (n.2116-1G>T) c.2074-1G>T (n.2074-1G>T) c.2038-1G>T (n.2038-1G>T) | |
1 | g.10320043G>A | CA338332224 | KIF1B | c.1978G>A (p.Asp660Asn) c.2041G>A (p.Asp681Asn) c.2116G>A (p.Asp706Asn) c.2074G>A (p.Asp692Asn) c.2038G>A (p.Asp680Asn) | gnomAD v4 |
1 | g.10320043G>C | CA581458 | KIF1B | c.1978G>C (p.Asp660His) c.2041G>C (p.Asp681His) c.2116G>C (p.Asp706His) c.2074G>C (p.Asp692His) c.2038G>C (p.Asp680His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10320043G= | CA1148320224 | KIF1B | c.1978G= (p.Asp660=) c.2041G= (p.Asp681=) c.2116G= (p.Asp706=) c.2074G= (p.Asp692=) c.2038G= (p.Asp680=) | |
1 | g.10320043G>T | CA338332225 | KIF1B | c.1978G>T (p.Asp660Tyr) c.2041G>T (p.Asp681Tyr) c.2116G>T (p.Asp706Tyr) c.2074G>T (p.Asp692Tyr) c.2038G>T (p.Asp680Tyr) | dbSNP |
1 | g.10320044A>C | CA338332226 | KIF1B | c.1979A>C (p.Asp660Ala) c.2042A>C (p.Asp681Ala) c.2117A>C (p.Asp706Ala) c.2075A>C (p.Asp692Ala) c.2039A>C (p.Asp680Ala) | |
1 | g.10320044A>G | CA338332227 | KIF1B | c.1979A>G (p.Asp660Gly) c.2042A>G (p.Asp681Gly) c.2117A>G (p.Asp706Gly) c.2075A>G (p.Asp692Gly) c.2039A>G (p.Asp680Gly) | |
1 | g.10320044A>T | CA338332228 | KIF1B | c.1979A>T (p.Asp660Val) c.2042A>T (p.Asp681Val) c.2117A>T (p.Asp706Val) c.2075A>T (p.Asp692Val) c.2039A>T (p.Asp680Val) | ClinVar |
1 | g.10320045C>A | CA338332229 | KIF1B | c.1980C>A (p.Asp660Glu) c.2043C>A (p.Asp681Glu) c.2118C>A (p.Asp706Glu) c.2076C>A (p.Asp692Glu) c.2040C>A (p.Asp680Glu) | gnomAD v4 |
1 | g.10320045C>G | CA338332230 | KIF1B | c.1980C>G (p.Asp660Glu) c.2043C>G (p.Asp681Glu) c.2118C>G (p.Asp706Glu) c.2076C>G (p.Asp692Glu) c.2040C>G (p.Asp680Glu) | |
1 | g.10320045C>T | CA415881381 | KIF1B | c.1980C>T (p.Asp660=) c.2043C>T (p.Asp681=) c.2118C>T (p.Asp706=) c.2076C>T (p.Asp692=) c.2040C>T (p.Asp680=) | |
1 | g.10320046T>A | CA338332233 | KIF1B | c.1981T>A (p.Tyr661Asn) c.2044T>A (p.Tyr682Asn) c.2119T>A (p.Tyr707Asn) c.2077T>A (p.Tyr693Asn) c.2041T>A (p.Tyr681Asn) | |
1 | g.10320046T>C | CA338332232 | KIF1B | c.1981T>C (p.Tyr661His) c.2044T>C (p.Tyr682His) c.2119T>C (p.Tyr707His) c.2077T>C (p.Tyr693His) c.2041T>C (p.Tyr681His) | |
1 | g.10320046T>G | CA338332231 | KIF1B | c.1981T>G (p.Tyr661Asp) c.2044T>G (p.Tyr682Asp) c.2119T>G (p.Tyr707Asp) c.2077T>G (p.Tyr693Asp) c.2041T>G (p.Tyr681Asp) | |
1 | g.10320047A= | CA1141748294 | KIF1B | c.1982A= (p.Tyr661=) c.2045A= (p.Tyr682=) c.2120A= (p.Tyr707=) c.2078A= (p.Tyr693=) c.2042A= (p.Tyr681=) | |
1 | g.10320047A>C | CA338332234 | KIF1B | c.1982A>C (p.Tyr661Ser) c.2045A>C (p.Tyr682Ser) c.2120A>C (p.Tyr707Ser) c.2078A>C (p.Tyr693Ser) c.2042A>C (p.Tyr681Ser) | |
1 | g.10320047A>G | CA338332235 | KIF1B | c.1982A>G (p.Tyr661Cys) c.2045A>G (p.Tyr682Cys) c.2120A>G (p.Tyr707Cys) c.2078A>G (p.Tyr693Cys) c.2042A>G (p.Tyr681Cys) | |
1 | g.10320047A>T | CA581459 | KIF1B | c.1982A>T (p.Tyr661Phe) c.2045A>T (p.Tyr682Phe) c.2120A>T (p.Tyr707Phe) c.2078A>T (p.Tyr693Phe) c.2042A>T (p.Tyr681Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320048T>A | CA338332236 | KIF1B | c.1983T>A (p.Tyr661Ter) c.2046T>A (p.Tyr682Ter) c.2121T>A (p.Tyr707Ter) c.2079T>A (p.Tyr693Ter) c.2043T>A (p.Tyr681Ter) | |
1 | g.10320048T>C | CA415881382 | KIF1B | c.1983T>C (p.Tyr661=) c.2046T>C (p.Tyr682=) c.2121T>C (p.Tyr707=) c.2079T>C (p.Tyr693=) c.2043T>C (p.Tyr681=) | |
1 | g.10320048T>G | CA338332237 | KIF1B | c.1983T>G (p.Tyr661Ter) c.2046T>G (p.Tyr682Ter) c.2121T>G (p.Tyr707Ter) c.2079T>G (p.Tyr693Ter) c.2043T>G (p.Tyr681Ter) | |
1 | g.10320049G>A | CA338332238 | KIF1B | c.1984G>A (p.Glu662Lys) c.2047G>A (p.Glu683Lys) c.2122G>A (p.Glu708Lys) c.2080G>A (p.Glu694Lys) c.2044G>A (p.Glu682Lys) | |
1 | g.10320049G>C | CA338332239 | KIF1B | c.1984G>C (p.Glu662Gln) c.2047G>C (p.Glu683Gln) c.2122G>C (p.Glu708Gln) c.2080G>C (p.Glu694Gln) c.2044G>C (p.Glu682Gln) | dbSNP |
1 | g.10320049G= | CA1153153671 | KIF1B | c.1984G= (p.Glu662=) c.2047G= (p.Glu683=) c.2122G= (p.Glu708=) c.2080G= (p.Glu694=) c.2044G= (p.Glu682=) | |
1 | g.10320049G>T | CA338332240 | KIF1B | c.1984G>T (p.Glu662Ter) c.2047G>T (p.Glu683Ter) c.2122G>T (p.Glu708Ter) c.2080G>T (p.Glu694Ter) c.2044G>T (p.Glu682Ter) | |
1 | g.10320052_10320053del | CA2574205973 | KIF1B | c.1987_1988del (p.Ser663Ter) c.2050_2051del (p.Ser684Ter) c.2125_2126del (p.Ser709Ter) c.2083_2084del (p.Ser695Ter) c.2047_2048del (p.Ser683Ter) | |
1 | g.10320050A>C | CA338332241 | KIF1B | c.1985A>C (p.Glu662Ala) c.2048A>C (p.Glu683Ala) c.2123A>C (p.Glu708Ala) c.2081A>C (p.Glu694Ala) c.2045A>C (p.Glu682Ala) | |
1 | g.10320050A>G | CA338332242 | KIF1B | c.1985A>G (p.Glu662Gly) c.2048A>G (p.Glu683Gly) c.2123A>G (p.Glu708Gly) c.2081A>G (p.Glu694Gly) c.2045A>G (p.Glu682Gly) | |
1 | g.10320050A>T | CA338332243 | KIF1B | c.1985A>T (p.Glu662Val) c.2048A>T (p.Glu683Val) c.2123A>T (p.Glu708Val) c.2081A>T (p.Glu694Val) c.2045A>T (p.Glu682Val) | |
1 | g.10320051G>A | CA415881383 | KIF1B | c.1986G>A (p.Glu662=) c.2049G>A (p.Glu683=) c.2124G>A (p.Glu708=) c.2082G>A (p.Glu694=) c.2046G>A (p.Glu682=) | |
1 | g.10320051G>C | CA338332244 | KIF1B | c.1986G>C (p.Glu662Asp) c.2049G>C (p.Glu683Asp) c.2124G>C (p.Glu708Asp) c.2082G>C (p.Glu694Asp) c.2046G>C (p.Glu682Asp) | |
1 | g.10320051G>T | CA338332245 | KIF1B | c.1986G>T (p.Glu662Asp) c.2049G>T (p.Glu683Asp) c.2124G>T (p.Glu708Asp) c.2082G>T (p.Glu694Asp) c.2046G>T (p.Glu682Asp) | |
1 | g.10320052A>C | CA338332247 | KIF1B | c.1987A>C (p.Ser663Arg) c.2050A>C (p.Ser684Arg) c.2125A>C (p.Ser709Arg) c.2083A>C (p.Ser695Arg) c.2047A>C (p.Ser683Arg) | |
1 | g.10320052A>G | CA338332248 | KIF1B | c.1987A>G (p.Ser663Gly) c.2050A>G (p.Ser684Gly) c.2125A>G (p.Ser709Gly) c.2083A>G (p.Ser695Gly) c.2047A>G (p.Ser683Gly) | |
1 | g.10320052A>T | CA338332246 | KIF1B | c.1987A>T (p.Ser663Cys) c.2050A>T (p.Ser684Cys) c.2125A>T (p.Ser709Cys) c.2083A>T (p.Ser695Cys) c.2047A>T (p.Ser683Cys) | |
1 | g.10320053G>A | CA338332250 | KIF1B | c.1988G>A (p.Ser663Asn) c.2051G>A (p.Ser684Asn) c.2126G>A (p.Ser709Asn) c.2084G>A (p.Ser695Asn) c.2048G>A (p.Ser683Asn) | ClinVar |
1 | g.10320053G>C | CA338332249 | KIF1B | c.1988G>C (p.Ser663Thr) c.2051G>C (p.Ser684Thr) c.2126G>C (p.Ser709Thr) c.2084G>C (p.Ser695Thr) c.2048G>C (p.Ser683Thr) | |
1 | g.10320053G>T | CA338332251 | KIF1B | c.1988G>T (p.Ser663Ile) c.2051G>T (p.Ser684Ile) c.2126G>T (p.Ser709Ile) c.2084G>T (p.Ser695Ile) c.2048G>T (p.Ser683Ile) | |
1 | g.10320054T>A | CA338332252 | KIF1B | c.1989T>A (p.Ser663Arg) c.2052T>A (p.Ser684Arg) c.2127T>A (p.Ser709Arg) c.2085T>A (p.Ser695Arg) c.2049T>A (p.Ser683Arg) | |
1 | g.10320054T>C | CA415881384 | KIF1B | c.1989T>C (p.Ser663=) c.2052T>C (p.Ser684=) c.2127T>C (p.Ser709=) c.2085T>C (p.Ser695=) c.2049T>C (p.Ser683=) | |
1 | g.10320054T>G | CA338332253 | KIF1B | c.1989T>G (p.Ser663Arg) c.2052T>G (p.Ser684Arg) c.2127T>G (p.Ser709Arg) c.2085T>G (p.Ser695Arg) c.2049T>G (p.Ser683Arg) | |
1 | g.10320055A= | CA1153153674 | KIF1B | c.1990A= (p.Lys664=) c.2053A= (p.Lys685=) c.2128A= (p.Lys710=) c.2086A= (p.Lys696=) c.2050A= (p.Lys684=) | |
1 | g.10320055A>C | CA338332254 | KIF1B | c.1990A>C (p.Lys664Gln) c.2053A>C (p.Lys685Gln) c.2128A>C (p.Lys710Gln) c.2086A>C (p.Lys696Gln) c.2050A>C (p.Lys684Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10320055A>G | CA338332256 | KIF1B | c.1990A>G (p.Lys664Glu) c.2053A>G (p.Lys685Glu) c.2128A>G (p.Lys710Glu) c.2086A>G (p.Lys696Glu) c.2050A>G (p.Lys684Glu) | |
1 | g.10320055A>T | CA338332255 | KIF1B | c.1990A>T (p.Lys664Ter) c.2053A>T (p.Lys685Ter) c.2128A>T (p.Lys710Ter) c.2086A>T (p.Lys696Ter) c.2050A>T (p.Lys684Ter) | |
1 | g.10320056A>C | CA338332257 | KIF1B | c.1991A>C (p.Lys664Thr) c.2054A>C (p.Lys685Thr) c.2129A>C (p.Lys710Thr) c.2087A>C (p.Lys696Thr) c.2051A>C (p.Lys684Thr) | |
1 | g.10320056A>G | CA338332259 | KIF1B | c.1991A>G (p.Lys664Arg) c.2054A>G (p.Lys685Arg) c.2129A>G (p.Lys710Arg) c.2087A>G (p.Lys696Arg) c.2051A>G (p.Lys684Arg) | gnomAD v4 |
1 | g.10320056A>T | CA338332258 | KIF1B | c.1991A>T (p.Lys664Ile) c.2054A>T (p.Lys685Ile) c.2129A>T (p.Lys710Ile) c.2087A>T (p.Lys696Ile) c.2051A>T (p.Lys684Ile) | |
1 | g.10320057A= | CA1153153681 | KIF1B | c.1992A= (p.Lys664=) c.2055A= (p.Lys685=) c.2130A= (p.Lys710=) c.2088A= (p.Lys696=) c.2052A= (p.Lys684=) | |
1 | g.10320057A>C | CA338332260 | KIF1B | c.1992A>C (p.Lys664Asn) c.2055A>C (p.Lys685Asn) c.2130A>C (p.Lys710Asn) c.2088A>C (p.Lys696Asn) c.2052A>C (p.Lys684Asn) | |
1 | g.10320057A>G | CA17830964 | KIF1B | c.1992A>G (p.Lys664=) c.2055A>G (p.Lys685=) c.2130A>G (p.Lys710=) c.2088A>G (p.Lys696=) c.2052A>G (p.Lys684=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.10320057A>T | CA338332261 | KIF1B | c.1992A>T (p.Lys664Asn) c.2055A>T (p.Lys685Asn) c.2130A>T (p.Lys710Asn) c.2088A>T (p.Lys696Asn) c.2052A>T (p.Lys684Asn) | |
1 | g.10320058T>A | CA338332262 | KIF1B | c.1993T>A (p.Leu665Met) c.2056T>A (p.Leu686Met) c.2131T>A (p.Leu711Met) c.2089T>A (p.Leu697Met) c.2053T>A (p.Leu685Met) | |
1 | g.10320058T>C | CA415881385 | KIF1B | c.1993T>C (p.Leu665=) c.2056T>C (p.Leu686=) c.2131T>C (p.Leu711=) c.2089T>C (p.Leu697=) c.2053T>C (p.Leu685=) | |
1 | g.10320058T>G | CA338332263 | KIF1B | c.1993T>G (p.Leu665Val) c.2056T>G (p.Leu686Val) c.2131T>G (p.Leu711Val) c.2089T>G (p.Leu697Val) c.2053T>G (p.Leu685Val) | |
1 | g.10320059T>A | CA338332264 | KIF1B | c.1994T>A (p.Leu665Ter) c.2057T>A (p.Leu686Ter) c.2132T>A (p.Leu711Ter) c.2090T>A (p.Leu697Ter) c.2054T>A (p.Leu685Ter) | |
1 | g.10320059T>C | CA338332265 | KIF1B | c.1994T>C (p.Leu665Ser) c.2057T>C (p.Leu686Ser) c.2132T>C (p.Leu711Ser) c.2090T>C (p.Leu697Ser) c.2054T>C (p.Leu685Ser) | |
1 | g.10320059T>G | CA338332266 | KIF1B | c.1994T>G (p.Leu665Trp) c.2057T>G (p.Leu686Trp) c.2132T>G (p.Leu711Trp) c.2090T>G (p.Leu697Trp) c.2054T>G (p.Leu685Trp) | |
1 | g.10320060G>A | CA415881386 | KIF1B | c.1995G>A (p.Leu665=) c.2058G>A (p.Leu686=) c.2133G>A (p.Leu711=) c.2091G>A (p.Leu697=) c.2055G>A (p.Leu685=) | COSMIC |
1 | g.10320060G>C | CA338332267 | KIF1B | c.1995G>C (p.Leu665Phe) c.2058G>C (p.Leu686Phe) c.2133G>C (p.Leu711Phe) c.2091G>C (p.Leu697Phe) c.2055G>C (p.Leu685Phe) | |
1 | g.10320060G= | CA1153153685 | KIF1B | c.1995G= (p.Leu665=) c.2058G= (p.Leu686=) c.2133G= (p.Leu711=) c.2091G= (p.Leu697=) c.2055G= (p.Leu685=) | |
1 | g.10320060G>T | CA338332268 | KIF1B | c.1995G>T (p.Leu665Phe) c.2058G>T (p.Leu686Phe) c.2133G>T (p.Leu711Phe) c.2091G>T (p.Leu697Phe) c.2055G>T (p.Leu685Phe) | dbSNP |
1 | g.10320061C>A | CA338332269 | KIF1B | c.1996C>A (p.Gln666Lys) c.2059C>A (p.Gln687Lys) c.2134C>A (p.Gln712Lys) c.2092C>A (p.Gln698Lys) c.2056C>A (p.Gln686Lys) | |
1 | g.10320061C>G | CA338332270 | KIF1B | c.1996C>G (p.Gln666Glu) c.2059C>G (p.Gln687Glu) c.2134C>G (p.Gln712Glu) c.2092C>G (p.Gln698Glu) c.2056C>G (p.Gln686Glu) | |
1 | g.10320061C>T | CA338332271 | KIF1B | c.1996C>T (p.Gln666Ter) c.2059C>T (p.Gln687Ter) c.2134C>T (p.Gln712Ter) c.2092C>T (p.Gln698Ter) c.2056C>T (p.Gln686Ter) | |
1 | g.10320062A>C | CA338332274 | KIF1B | c.1997A>C (p.Gln666Pro) c.2060A>C (p.Gln687Pro) c.2135A>C (p.Gln712Pro) c.2093A>C (p.Gln698Pro) c.2057A>C (p.Gln686Pro) | |
1 | g.10320062A>G | CA338332272 | KIF1B | c.1997A>G (p.Gln666Arg) c.2060A>G (p.Gln687Arg) c.2135A>G (p.Gln712Arg) c.2093A>G (p.Gln698Arg) c.2057A>G (p.Gln686Arg) | ClinVar |
1 | g.10320062A>T | CA338332273 | KIF1B | c.1997A>T (p.Gln666Leu) c.2060A>T (p.Gln687Leu) c.2135A>T (p.Gln712Leu) c.2093A>T (p.Gln698Leu) c.2057A>T (p.Gln686Leu) | |
1 | g.10320063G>A | CA415881387 | KIF1B | c.1998G>A (p.Gln666=) c.2061G>A (p.Gln687=) c.2136G>A (p.Gln712=) c.2094G>A (p.Gln698=) c.2058G>A (p.Gln686=) | |
1 | g.10320063G>C | CA338332275 | KIF1B | c.1998G>C (p.Gln666His) c.2061G>C (p.Gln687His) c.2136G>C (p.Gln712His) c.2094G>C (p.Gln698His) c.2058G>C (p.Gln686His) | gnomAD v4 |
1 | g.10320063G>T | CA338332276 | KIF1B | c.1998G>T (p.Gln666His) c.2061G>T (p.Gln687His) c.2136G>T (p.Gln712His) c.2094G>T (p.Gln698His) c.2058G>T (p.Gln686His) | |
1 | g.10320064G>A | CA338332277 | KIF1B | c.1999G>A (p.Ala667Thr) c.2062G>A (p.Ala688Thr) c.2137G>A (p.Ala713Thr) c.2095G>A (p.Ala699Thr) c.2059G>A (p.Ala687Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320064G>C | CA338332278 | KIF1B | c.1999G>C (p.Ala667Pro) c.2062G>C (p.Ala688Pro) c.2137G>C (p.Ala713Pro) c.2095G>C (p.Ala699Pro) c.2059G>C (p.Ala687Pro) | |
1 | g.10320064G= | CA1153153695 | KIF1B | c.1999G= (p.Ala667=) c.2062G= (p.Ala688=) c.2137G= (p.Ala713=) c.2095G= (p.Ala699=) c.2059G= (p.Ala687=) | |
1 | g.10320064G>T | CA338332279 | KIF1B | c.1999G>T (p.Ala667Ser) c.2062G>T (p.Ala688Ser) c.2137G>T (p.Ala713Ser) c.2095G>T (p.Ala699Ser) c.2059G>T (p.Ala687Ser) | ClinVar gnomAD v4 |
1 | g.10320065C>A | CA338332280 | KIF1B | c.2000C>A (p.Ala667Asp) c.2063C>A (p.Ala688Asp) c.2138C>A (p.Ala713Asp) c.2096C>A (p.Ala699Asp) c.2060C>A (p.Ala687Asp) | |
1 | g.10320065C>G | CA338332281 | KIF1B | c.2000C>G (p.Ala667Gly) c.2063C>G (p.Ala688Gly) c.2138C>G (p.Ala713Gly) c.2096C>G (p.Ala699Gly) c.2060C>G (p.Ala687Gly) | |
1 | g.10320065C>T | CA338332282 | KIF1B | c.2000C>T (p.Ala667Val) c.2063C>T (p.Ala688Val) c.2138C>T (p.Ala713Val) c.2096C>T (p.Ala699Val) c.2060C>T (p.Ala687Val) | |
1 | g.10320066C>A | CA415881388 | KIF1B | c.2001C>A (p.Ala667=) c.2064C>A (p.Ala688=) c.2139C>A (p.Ala713=) c.2097C>A (p.Ala699=) c.2061C>A (p.Ala687=) | |
1 | g.10320066C>G | CA415881389 | KIF1B | c.2001C>G (p.Ala667=) c.2064C>G (p.Ala688=) c.2139C>G (p.Ala713=) c.2097C>G (p.Ala699=) c.2061C>G (p.Ala687=) | |
1 | g.10320066C>T | CA415881390 | KIF1B | c.2001C>T (p.Ala667=) c.2064C>T (p.Ala688=) c.2139C>T (p.Ala713=) c.2097C>T (p.Ala699=) c.2061C>T (p.Ala687=) | ClinVar dbSNP |
1 | g.10320067T>A | CA338332283 | KIF1B | c.2002T>A (p.Leu668Met) c.2065T>A (p.Leu689Met) c.2140T>A (p.Leu714Met) c.2098T>A (p.Leu700Met) c.2062T>A (p.Leu688Met) | |
1 | g.10320067T>C | CA415881391 | KIF1B | c.2002T>C (p.Leu668=) c.2065T>C (p.Leu689=) c.2140T>C (p.Leu714=) c.2098T>C (p.Leu700=) c.2062T>C (p.Leu688=) | |
1 | g.10320067T>G | CA338332284 | KIF1B | c.2002T>G (p.Leu668Val) c.2065T>G (p.Leu689Val) c.2140T>G (p.Leu714Val) c.2098T>G (p.Leu700Val) c.2062T>G (p.Leu688Val) | |
1 | g.10320068T>A | CA338332287 | KIF1B | c.2003T>A (p.Leu668Ter) c.2066T>A (p.Leu689Ter) c.2141T>A (p.Leu714Ter) c.2099T>A (p.Leu700Ter) c.2063T>A (p.Leu688Ter) | |
1 | g.10320068T>C | CA338332286 | KIF1B | c.2003T>C (p.Leu668Ser) c.2066T>C (p.Leu689Ser) c.2141T>C (p.Leu714Ser) c.2099T>C (p.Leu700Ser) c.2063T>C (p.Leu688Ser) | |
1 | g.10320068T>G | CA338332285 | KIF1B | c.2003T>G (p.Leu668Trp) c.2066T>G (p.Leu689Trp) c.2141T>G (p.Leu714Trp) c.2099T>G (p.Leu700Trp) c.2063T>G (p.Leu688Trp) | |
1 | g.10320069G>A | CA415881392 | KIF1B | c.2004G>A (p.Leu668=) c.2067G>A (p.Leu689=) c.2142G>A (p.Leu714=) c.2100G>A (p.Leu700=) c.2064G>A (p.Leu688=) | ClinVar |
1 | g.10320069G>C | CA338332288 | KIF1B | c.2004G>C (p.Leu668Phe) c.2067G>C (p.Leu689Phe) c.2142G>C (p.Leu714Phe) c.2100G>C (p.Leu700Phe) c.2064G>C (p.Leu688Phe) | |
1 | g.10320069G= | CA1153153709 | KIF1B | c.2004G= (p.Leu668=) c.2067G= (p.Leu689=) c.2142G= (p.Leu714=) c.2100G= (p.Leu700=) c.2064G= (p.Leu688=) | |
1 | g.10320069G>T | CA338332289 | KIF1B | c.2004G>T (p.Leu668Phe) c.2067G>T (p.Leu689Phe) c.2142G>T (p.Leu714Phe) c.2100G>T (p.Leu700Phe) c.2064G>T (p.Leu688Phe) | ClinVar dbSNP |
1 | g.10320073_10320078del | CA2643180043 | KIF1B | c.2008_2013del (p.Lys670_Gln671del) c.2071_2076del (p.Lys691_Gln692del) c.2146_2151del (p.Lys716_Gln717del) c.2104_2109del (p.Lys702_Gln703del) c.2068_2073del (p.Lys690_Gln691del) | gnomAD v4 |
1 | g.10320070C>A | CA338332290 | KIF1B | c.2005C>A (p.Gln669Lys) c.2068C>A (p.Gln690Lys) c.2143C>A (p.Gln715Lys) c.2101C>A (p.Gln701Lys) c.2065C>A (p.Gln689Lys) | |
1 | g.10320070C= | CA1153153712 | KIF1B | c.2005C= (p.Gln669=) c.2068C= (p.Gln690=) c.2143C= (p.Gln715=) c.2101C= (p.Gln701=) c.2065C= (p.Gln689=) | |
1 | g.10320070C>G | CA338332291 | KIF1B | c.2005C>G (p.Gln669Glu) c.2068C>G (p.Gln690Glu) c.2143C>G (p.Gln715Glu) c.2101C>G (p.Gln701Glu) c.2065C>G (p.Gln689Glu) | ClinVar dbSNP |
1 | g.10320070C>T | CA338332292 | KIF1B | c.2005C>T (p.Gln669Ter) c.2068C>T (p.Gln690Ter) c.2143C>T (p.Gln715Ter) c.2101C>T (p.Gln701Ter) c.2065C>T (p.Gln689Ter) | gnomAD v4 |
1 | g.10320071A= | CA1153153714 | KIF1B | c.2006A= (p.Gln669=) c.2069A= (p.Gln690=) c.2144A= (p.Gln715=) c.2102A= (p.Gln701=) c.2066A= (p.Gln689=) | |
1 | g.10320071A>C | CA338332293 | KIF1B | c.2006A>C (p.Gln669Pro) c.2069A>C (p.Gln690Pro) c.2144A>C (p.Gln715Pro) c.2102A>C (p.Gln701Pro) c.2066A>C (p.Gln689Pro) | |
1 | g.10320071A>G | CA338332294 | KIF1B | c.2006A>G (p.Gln669Arg) c.2069A>G (p.Gln690Arg) c.2144A>G (p.Gln715Arg) c.2102A>G (p.Gln701Arg) c.2066A>G (p.Gln689Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320071A>T | CA338332295 | KIF1B | c.2006A>T (p.Gln669Leu) c.2069A>T (p.Gln690Leu) c.2144A>T (p.Gln715Leu) c.2102A>T (p.Gln701Leu) c.2066A>T (p.Gln689Leu) | |
1 | g.10320072G>A | CA415881393 | KIF1B | c.2007G>A (p.Gln669=) c.2070G>A (p.Gln690=) c.2145G>A (p.Gln715=) c.2103G>A (p.Gln701=) c.2067G>A (p.Gln689=) | |
1 | g.10320072G>C | CA338332296 | KIF1B | c.2007G>C (p.Gln669His) c.2070G>C (p.Gln690His) c.2145G>C (p.Gln715His) c.2103G>C (p.Gln701His) c.2067G>C (p.Gln689His) | |
1 | g.10320072G>T | CA338332297 | KIF1B | c.2007G>T (p.Gln669His) c.2070G>T (p.Gln690His) c.2145G>T (p.Gln715His) c.2103G>T (p.Gln701His) c.2067G>T (p.Gln689His) | |
1 | g.10320073A>C | CA338332298 | KIF1B | c.2008A>C (p.Lys670Gln) c.2071A>C (p.Lys691Gln) c.2146A>C (p.Lys716Gln) c.2104A>C (p.Lys702Gln) c.2068A>C (p.Lys690Gln) | |
1 | g.10320073A>G | CA338332299 | KIF1B | c.2008A>G (p.Lys670Glu) c.2071A>G (p.Lys691Glu) c.2146A>G (p.Lys716Glu) c.2104A>G (p.Lys702Glu) c.2068A>G (p.Lys690Glu) | |
1 | g.10320073A>T | CA338332300 | KIF1B | c.2008A>T (p.Lys670Ter) c.2071A>T (p.Lys691Ter) c.2146A>T (p.Lys716Ter) c.2104A>T (p.Lys702Ter) c.2068A>T (p.Lys690Ter) | |
1 | g.10320074A>C | CA338332301 | KIF1B | c.2009A>C (p.Lys670Thr) c.2072A>C (p.Lys691Thr) c.2147A>C (p.Lys716Thr) c.2105A>C (p.Lys702Thr) c.2069A>C (p.Lys690Thr) | gnomAD v4 |
1 | g.10320074A>G | CA338332303 | KIF1B | c.2009A>G (p.Lys670Arg) c.2072A>G (p.Lys691Arg) c.2147A>G (p.Lys716Arg) c.2105A>G (p.Lys702Arg) c.2069A>G (p.Lys690Arg) | |
1 | g.10320074A>T | CA338332302 | KIF1B | c.2009A>T (p.Lys670Met) c.2072A>T (p.Lys691Met) c.2147A>T (p.Lys716Met) c.2105A>T (p.Lys702Met) c.2069A>T (p.Lys690Met) | |
1 | g.10320075G>A | CA415881394 | KIF1B | c.2010G>A (p.Lys670=) c.2073G>A (p.Lys691=) c.2148G>A (p.Lys716=) c.2106G>A (p.Lys702=) c.2070G>A (p.Lys690=) | |
1 | g.10320075G>C | CA338332304 | KIF1B | c.2010G>C (p.Lys670Asn) c.2073G>C (p.Lys691Asn) c.2148G>C (p.Lys716Asn) c.2106G>C (p.Lys702Asn) c.2070G>C (p.Lys690Asn) | |
1 | g.10320075G>T | CA338332305 | KIF1B | c.2010G>T (p.Lys670Asn) c.2073G>T (p.Lys691Asn) c.2148G>T (p.Lys716Asn) c.2106G>T (p.Lys702Asn) c.2070G>T (p.Lys690Asn) | |
1 | g.10320076C>A | CA338332306 | KIF1B | c.2011C>A (p.Gln671Lys) c.2074C>A (p.Gln692Lys) c.2149C>A (p.Gln717Lys) c.2107C>A (p.Gln703Lys) c.2071C>A (p.Gln691Lys) | |
1 | g.10320076C>G | CA338332307 | KIF1B | c.2011C>G (p.Gln671Glu) c.2074C>G (p.Gln692Glu) c.2149C>G (p.Gln717Glu) c.2107C>G (p.Gln703Glu) c.2071C>G (p.Gln691Glu) | |
1 | g.10320076C>T | CA338332308 | KIF1B | c.2011C>T (p.Gln671Ter) c.2074C>T (p.Gln692Ter) c.2149C>T (p.Gln717Ter) c.2107C>T (p.Gln703Ter) c.2071C>T (p.Gln691Ter) | |
1 | g.10320077A>C | CA338332309 | KIF1B | c.2012A>C (p.Gln671Pro) c.2075A>C (p.Gln692Pro) c.2150A>C (p.Gln717Pro) c.2108A>C (p.Gln703Pro) c.2072A>C (p.Gln691Pro) | |
1 | g.10320077A>G | CA338332310 | KIF1B | c.2012A>G (p.Gln671Arg) c.2075A>G (p.Gln692Arg) c.2150A>G (p.Gln717Arg) c.2108A>G (p.Gln703Arg) c.2072A>G (p.Gln691Arg) | ClinVar |
1 | g.10320077A>T | CA338332311 | KIF1B | c.2012A>T (p.Gln671Leu) c.2075A>T (p.Gln692Leu) c.2150A>T (p.Gln717Leu) c.2108A>T (p.Gln703Leu) c.2072A>T (p.Gln691Leu) | |
1 | g.10320078G>A | CA415881395 | KIF1B | c.2013G>A (p.Gln671=) c.2076G>A (p.Gln692=) c.2151G>A (p.Gln717=) c.2109G>A (p.Gln703=) c.2073G>A (p.Gln691=) | |
1 | g.10320078G>C | CA338332312 | KIF1B | c.2013G>C (p.Gln671His) c.2076G>C (p.Gln692His) c.2151G>C (p.Gln717His) c.2109G>C (p.Gln703His) c.2073G>C (p.Gln691His) | |
1 | g.10320078G>T | CA338332313 | KIF1B | c.2013G>T (p.Gln671His) c.2076G>T (p.Gln692His) c.2151G>T (p.Gln717His) c.2109G>T (p.Gln703His) c.2073G>T (p.Gln691His) | gnomAD v4 |
1 | g.10320079G>A | CA338332316 | KIF1B | c.2014G>A (p.Val672Ile) c.2077G>A (p.Val693Ile) c.2152G>A (p.Val718Ile) c.2110G>A (p.Val704Ile) c.2074G>A (p.Val692Ile) | |
1 | g.10320079G>C | CA338332315 | KIF1B | c.2014G>C (p.Val672Leu) c.2077G>C (p.Val693Leu) c.2152G>C (p.Val718Leu) c.2110G>C (p.Val704Leu) c.2074G>C (p.Val692Leu) | ClinVar |
1 | g.10320079G= | CA1153153718 | KIF1B | c.2014G= (p.Val672=) c.2077G= (p.Val693=) c.2152G= (p.Val718=) c.2110G= (p.Val704=) c.2074G= (p.Val692=) | |
1 | g.10320079G>T | CA338332314 | KIF1B | c.2014G>T (p.Val672Phe) c.2077G>T (p.Val693Phe) c.2152G>T (p.Val718Phe) c.2110G>T (p.Val704Phe) c.2074G>T (p.Val692Phe) | dbSNP |
1 | g.10320080T>A | CA338332317 | KIF1B | c.2015T>A (p.Val672Asp) c.2078T>A (p.Val693Asp) c.2153T>A (p.Val718Asp) c.2111T>A (p.Val704Asp) c.2075T>A (p.Val692Asp) | |
1 | g.10320080T>C | CA338332319 | KIF1B | c.2015T>C (p.Val672Ala) c.2078T>C (p.Val693Ala) c.2153T>C (p.Val718Ala) c.2111T>C (p.Val704Ala) c.2075T>C (p.Val692Ala) | gnomAD v4 |
1 | g.10320080T>G | CA338332318 | KIF1B | c.2015T>G (p.Val672Gly) c.2078T>G (p.Val693Gly) c.2153T>G (p.Val718Gly) c.2111T>G (p.Val704Gly) c.2075T>G (p.Val692Gly) | |
1 | g.10320081T>A | CA415881396 | KIF1B | c.2016T>A (p.Val672=) c.2079T>A (p.Val693=) c.2154T>A (p.Val718=) c.2112T>A (p.Val704=) c.2076T>A (p.Val692=) | |
1 | g.10320081T>C | CA415881398 | KIF1B | c.2016T>C (p.Val672=) c.2079T>C (p.Val693=) c.2154T>C (p.Val718=) c.2112T>C (p.Val704=) c.2076T>C (p.Val692=) | |
1 | g.10320081T>G | CA415881397 | KIF1B | c.2016T>G (p.Val672=) c.2079T>G (p.Val693=) c.2154T>G (p.Val718=) c.2112T>G (p.Val704=) c.2076T>G (p.Val692=) | |
1 | g.10320082G>A | CA338332320 | KIF1B | c.2017G>A (p.Glu673Lys) c.2080G>A (p.Glu694Lys) c.2155G>A (p.Glu719Lys) c.2113G>A (p.Glu705Lys) c.2077G>A (p.Glu693Lys) | gnomAD v4 |
1 | g.10320082G>C | CA338332321 | KIF1B | c.2017G>C (p.Glu673Gln) c.2080G>C (p.Glu694Gln) c.2155G>C (p.Glu719Gln) c.2113G>C (p.Glu705Gln) c.2077G>C (p.Glu693Gln) | |
1 | g.10320082G>T | CA338332322 | KIF1B | c.2017G>T (p.Glu673Ter) c.2080G>T (p.Glu694Ter) c.2155G>T (p.Glu719Ter) c.2113G>T (p.Glu705Ter) c.2077G>T (p.Glu693Ter) | |
1 | g.10320083A>C | CA338332323 | KIF1B | c.2018A>C (p.Glu673Ala) c.2081A>C (p.Glu694Ala) c.2156A>C (p.Glu719Ala) c.2114A>C (p.Glu705Ala) c.2078A>C (p.Glu693Ala) | |
1 | g.10320083A>G | CA338332324 | KIF1B | c.2018A>G (p.Glu673Gly) c.2081A>G (p.Glu694Gly) c.2156A>G (p.Glu719Gly) c.2114A>G (p.Glu705Gly) c.2078A>G (p.Glu693Gly) | |
1 | g.10320083A>T | CA338332325 | KIF1B | c.2018A>T (p.Glu673Val) c.2081A>T (p.Glu694Val) c.2156A>T (p.Glu719Val) c.2114A>T (p.Glu705Val) c.2078A>T (p.Glu693Val) | |
1 | g.10320084A>C | CA338332326 | KIF1B | c.2019A>C (p.Glu673Asp) c.2082A>C (p.Glu694Asp) c.2157A>C (p.Glu719Asp) c.2115A>C (p.Glu705Asp) c.2079A>C (p.Glu693Asp) | |
1 | g.10320084A>G | CA415881399 | KIF1B | c.2019A>G (p.Glu673=) c.2082A>G (p.Glu694=) c.2157A>G (p.Glu719=) c.2115A>G (p.Glu705=) c.2079A>G (p.Glu693=) | |
1 | g.10320084A>T | CA338332327 | KIF1B | c.2019A>T (p.Glu673Asp) c.2082A>T (p.Glu694Asp) c.2157A>T (p.Glu719Asp) c.2115A>T (p.Glu705Asp) c.2079A>T (p.Glu693Asp) | |
1 | g.10320085A>C | CA338332328 | KIF1B | c.2020A>C (p.Thr674Pro) c.2083A>C (p.Thr695Pro) c.2158A>C (p.Thr720Pro) c.2116A>C (p.Thr706Pro) c.2080A>C (p.Thr694Pro) | |
1 | g.10320085A>G | CA338332329 | KIF1B | c.2020A>G (p.Thr674Ala) c.2083A>G (p.Thr695Ala) c.2158A>G (p.Thr720Ala) c.2116A>G (p.Thr706Ala) c.2080A>G (p.Thr694Ala) | |
1 | g.10320085A>T | CA338332330 | KIF1B | c.2020A>T (p.Thr674Ser) c.2083A>T (p.Thr695Ser) c.2158A>T (p.Thr720Ser) c.2116A>T (p.Thr706Ser) c.2080A>T (p.Thr694Ser) | |
1 | g.10320086C>A | CA338332332 | KIF1B | c.2021C>A (p.Thr674Asn) c.2084C>A (p.Thr695Asn) c.2159C>A (p.Thr720Asn) c.2117C>A (p.Thr706Asn) c.2081C>A (p.Thr694Asn) | |
1 | g.10320086C= | CA1140610130 | KIF1B | c.2021C= (p.Thr674=) c.2084C= (p.Thr695=) c.2159C= (p.Thr720=) c.2117C= (p.Thr706=) c.2081C= (p.Thr694=) | |
1 | g.10320086C>G | CA338332331 | KIF1B | c.2021C>G (p.Thr674Ser) c.2084C>G (p.Thr695Ser) c.2159C>G (p.Thr720Ser) c.2117C>G (p.Thr706Ser) c.2081C>G (p.Thr694Ser) | ClinVar |
1 | g.10320086C>T | CA581460 | KIF1B | c.2021C>T (p.Thr674Ile) c.2084C>T (p.Thr695Ile) c.2159C>T (p.Thr720Ile) c.2117C>T (p.Thr706Ile) c.2081C>T (p.Thr694Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.10320087C>A | CA415881400 | KIF1B | c.2022C>A (p.Thr674=) c.2085C>A (p.Thr695=) c.2160C>A (p.Thr720=) c.2118C>A (p.Thr706=) c.2082C>A (p.Thr694=) | gnomAD v4 |
1 | g.10320087C>G | CA415881401 | KIF1B | c.2022C>G (p.Thr674=) c.2085C>G (p.Thr695=) c.2160C>G (p.Thr720=) c.2118C>G (p.Thr706=) c.2082C>G (p.Thr694=) | |
1 | g.10320087C>T | CA415881402 | KIF1B | c.2022C>T (p.Thr674=) c.2085C>T (p.Thr695=) c.2160C>T (p.Thr720=) c.2118C>T (p.Thr706=) c.2082C>T (p.Thr694=) | |
1 | g.10320088C>A | CA415881403 | KIF1B | c.2023C>A (p.Arg675=) c.2086C>A (p.Arg696=) c.2161C>A (p.Arg721=) c.2119C>A (p.Arg707=) c.2083C>A (p.Arg695=) | |
1 | g.10320088C= | CA1153153732 | KIF1B | c.2023C= (p.Arg675=) c.2086C= (p.Arg696=) c.2161C= (p.Arg721=) c.2119C= (p.Arg707=) c.2083C= (p.Arg695=) | |
1 | g.10320088C>G | CA338332333 | KIF1B | c.2023C>G (p.Arg675Gly) c.2086C>G (p.Arg696Gly) c.2161C>G (p.Arg721Gly) c.2119C>G (p.Arg707Gly) c.2083C>G (p.Arg695Gly) | |
1 | g.10320088C>T | CA338332334 | KIF1B | c.2023C>T (p.Arg675Ter) c.2086C>T (p.Arg696Ter) c.2161C>T (p.Arg721Ter) c.2119C>T (p.Arg707Ter) c.2083C>T (p.Arg695Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.10320089G>A | CA581462 | KIF1B | c.2024G>A (p.Arg675Gln) c.2087G>A (p.Arg696Gln) c.2162G>A (p.Arg721Gln) c.2120G>A (p.Arg707Gln) c.2084G>A (p.Arg695Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.10320089G>C | CA338332335 | KIF1B | c.2024G>C (p.Arg675Pro) c.2087G>C (p.Arg696Pro) c.2162G>C (p.Arg721Pro) c.2120G>C (p.Arg707Pro) c.2084G>C (p.Arg695Pro) | |
1 | g.10320089G= | CA1153153737 | KIF1B | c.2024G= (p.Arg675=) c.2087G= (p.Arg696=) c.2162G= (p.Arg721=) c.2120G= (p.Arg707=) c.2084G= (p.Arg695=) | |
1 | g.10320089G>T | CA581461 | KIF1B | c.2024G>T (p.Arg675Leu) c.2087G>T (p.Arg696Leu) c.2162G>T (p.Arg721Leu) c.2120G>T (p.Arg707Leu) c.2084G>T (p.Arg695Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.10320090A>C | CA415881404 | KIF1B | c.2025A>C (p.Arg675=) c.2088A>C (p.Arg696=) c.2163A>C (p.Arg721=) c.2121A>C (p.Arg707=) c.2085A>C (p.Arg695=) | |
1 | g.10320090A>G | CA415881405 | KIF1B | c.2025A>G (p.Arg675=) c.2088A>G (p.Arg696=) c.2163A>G (p.Arg721=) c.2121A>G (p.Arg707=) c.2085A>G (p.Arg695=) | |
1 | g.10320090A>T | CA415881406 | KIF1B | c.2025A>T (p.Arg675=) c.2088A>T (p.Arg696=) c.2163A>T (p.Arg721=) c.2121A>T (p.Arg707=) c.2085A>T (p.Arg695=) | |
1 | g.10320091T>A | CA338332336 | KIF1B | c.2026T>A (p.Ser676Thr) c.2089T>A (p.Ser697Thr) c.2164T>A (p.Ser722Thr) c.2122T>A (p.Ser708Thr) c.2086T>A (p.Ser696Thr) | gnomAD v4 |
1 | g.10320091T>C | CA338332337 | KIF1B | c.2026T>C (p.Ser676Pro) c.2089T>C (p.Ser697Pro) c.2164T>C (p.Ser722Pro) c.2122T>C (p.Ser708Pro) c.2086T>C (p.Ser696Pro) | ClinVar |
1 | g.10320091T>G | CA338332338 | KIF1B | c.2026T>G (p.Ser676Ala) c.2089T>G (p.Ser697Ala) c.2164T>G (p.Ser722Ala) c.2122T>G (p.Ser708Ala) c.2086T>G (p.Ser696Ala) | |
1 | g.10320092C>A | CA338332339 | KIF1B | c.2027C>A (p.Ser676Tyr) c.2090C>A (p.Ser697Tyr) c.2165C>A (p.Ser722Tyr) c.2123C>A (p.Ser708Tyr) c.2087C>A (p.Ser696Tyr) | |
1 | g.10320092C= | CA1153153743 | KIF1B | c.2027C= (p.Ser676=) c.2090C= (p.Ser697=) c.2165C= (p.Ser722=) c.2123C= (p.Ser708=) c.2087C= (p.Ser696=) | |
1 | g.10320092C>G | CA338332340 | KIF1B | c.2027C>G (p.Ser676Cys) c.2090C>G (p.Ser697Cys) c.2165C>G (p.Ser722Cys) c.2123C>G (p.Ser708Cys) c.2087C>G (p.Ser696Cys) | |
1 | g.10320092C>T | CA338332341 | KIF1B | c.2027C>T (p.Ser676Phe) c.2090C>T (p.Ser697Phe) c.2165C>T (p.Ser722Phe) c.2123C>T (p.Ser708Phe) c.2087C>T (p.Ser696Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.10320093T>A | CA415881407 | KIF1B | c.2028T>A (p.Ser676=) c.2091T>A (p.Ser697=) c.2166T>A (p.Ser722=) c.2124T>A (p.Ser708=) c.2088T>A (p.Ser696=) | |
1 | g.10320093T>C | CA415881408 | KIF1B | c.2028T>C (p.Ser676=) c.2091T>C (p.Ser697=) c.2166T>C (p.Ser722=) c.2124T>C (p.Ser708=) c.2088T>C (p.Ser696=) | dbSNP |
1 | g.10320093T>G | CA415881409 | KIF1B | c.2028T>G (p.Ser676=) c.2091T>G (p.Ser697=) c.2166T>G (p.Ser722=) c.2124T>G (p.Ser708=) c.2088T>G (p.Ser696=) | |
1 | g.10320094C>A | CA338332343 | KIF1B | c.2029C>A (p.Leu677Met) c.2092C>A (p.Leu698Met) c.2167C>A (p.Leu723Met) c.2125C>A (p.Leu709Met) c.2089C>A (p.Leu697Met) | |
1 | g.10320094C>G | CA338332342 | KIF1B | c.2029C>G (p.Leu677Val) c.2092C>G (p.Leu698Val) c.2167C>G (p.Leu723Val) c.2125C>G (p.Leu709Val) c.2089C>G (p.Leu697Val) | |
1 | g.10320094C>T | CA415881410 | KIF1B | c.2029C>T (p.Leu677=) c.2092C>T (p.Leu698=) c.2167C>T (p.Leu723=) c.2125C>T (p.Leu709=) c.2089C>T (p.Leu697=) | ClinVar gnomAD v4 |