UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10258511G>A | CA338324716 | KIF1B | c.202G>A (p.Ala68Thr) | gnomAD v4 |
| 1 | g.10258511G>C | CA338324712 | KIF1B | c.202G>C (p.Ala68Pro) | |
| 1 | g.10258511G>T | CA338324709 | KIF1B | c.202G>T (p.Ala68Ser) | |
| 1 | g.10258512C>A | CA338324723 | KIF1B | c.203C>A (p.Ala68Glu) | |
| 1 | g.10258512C>G | CA338324727 | KIF1B | c.203C>G (p.Ala68Gly) | |
| 1 | g.10258512C>T | CA338324729 | KIF1B | c.203C>T (p.Ala68Val) | ClinVar |
| 1 | g.10258513A= | CA1153193408 | KIF1B | c.204A= (p.Ala68=) | |
| 1 | g.10258513A>C | CA415879212 | KIF1B | c.204A>C (p.Ala68=) | gnomAD v4 |
| 1 | g.10258513A>G | CA415879213 | KIF1B | c.204A>G (p.Ala68=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10258513A>T | CA415879214 | KIF1B | c.204A>T (p.Ala68=) | |
| 1 | g.10258513_10258515delinsATC | CA1153193407 | KIF1B | c.204_206delinsATC (p.Ala68=) | |
| 1 | g.10258514T>A | CA338324733 | KIF1B | c.205T>A (p.Ser69Thr) | |
| 1 | g.10258514T>C | CA338324737 | KIF1B | c.205T>C (p.Ser69Pro) | |
| 1 | g.10258514T>G | CA338324738 | KIF1B | c.205T>G (p.Ser69Ala) | |
| 1 | g.10258516_10258517del | CA521452494 | KIF1B | c.207_208del (p.Gln70LysfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258515C>A | CA338324739 | KIF1B | c.206C>A (p.Ser69Tyr) | |
| 1 | g.10258515C>G | CA338324740 | KIF1B | c.206C>G (p.Ser69Cys) | |
| 1 | g.10258515C>T | CA338324741 | KIF1B | c.206C>T (p.Ser69Phe) | COSMIC COSMIC |
| 1 | g.10258516T>A | CA415879215 | KIF1B | c.207T>A (p.Ser69=) | |
| 1 | g.10258516T>C | CA415879216 | KIF1B | c.207T>C (p.Ser69=) | |
| 1 | g.10258516T>G | CA415879217 | KIF1B | c.207T>G (p.Ser69=) | |
| 1 | g.10258517C>A | CA338324745 | KIF1B | c.208C>A (p.Gln70Lys) | |
| 1 | g.10258517C>G | CA338324746 | KIF1B | c.208C>G (p.Gln70Glu) | |
| 1 | g.10258517C>T | CA338324750 | KIF1B | c.208C>T (p.Gln70Ter) | |
| 1 | g.10258518A>C | CA338324756 | KIF1B | c.209A>C (p.Gln70Pro) | gnomAD v4 |
| 1 | g.10258518A>G | CA338324759 | KIF1B | c.209A>G (p.Gln70Arg) | |
| 1 | g.10258518A>T | CA338324753 | KIF1B | c.209A>T (p.Gln70Leu) | |
| 1 | g.10258519A= | CA1153193410 | KIF1B | c.210A= (p.Gln70=) | |
| 1 | g.10258519A>C | CA338324770 | KIF1B | c.210A>C (p.Gln70His) | |
| 1 | g.10258519A>G | CA17832766 | KIF1B | c.210A>G (p.Gln70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258519A>T | CA338324775 | KIF1B | c.210A>T (p.Gln70His) | |
| 1 | g.10258520A>C | CA338324777 | KIF1B | c.211A>C (p.Asn71His) | |
| 1 | g.10258520A>G | CA338324780 | KIF1B | c.211A>G (p.Asn71Asp) | |
| 1 | g.10258520A>T | CA338324783 | KIF1B | c.211A>T (p.Asn71Tyr) | |
| 1 | g.10258521A>C | CA338324786 | KIF1B | c.212A>C (p.Asn71Thr) | |
| 1 | g.10258521A>G | CA338324785 | KIF1B | c.212A>G (p.Asn71Ser) | |
| 1 | g.10258521A>T | CA338324784 | KIF1B | c.212A>T (p.Asn71Ile) | |
| 1 | g.10258522C>A | CA580652 | KIF1B | c.213C>A (p.Asn71Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10258522C= | CA1153193413 | KIF1B | c.213C= (p.Asn71=) | |
| 1 | g.10258522C>G | CA338324787 | KIF1B | c.213C>G (p.Asn71Lys) | |
| 1 | g.10258522C>T | CA580651 | KIF1B | c.213C>T (p.Asn71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10258523C>A | CA338324789 | KIF1B | c.214C>A (p.Arg72Ser) | |
| 1 | g.10258523C= | CA1153193414 | KIF1B | c.214C= (p.Arg72=) | |
| 1 | g.10258523C>G | CA338324791 | KIF1B | c.214C>G (p.Arg72Gly) | gnomAD v4 |
| 1 | g.10258523C>T | CA17832775 | KIF1B | c.214C>T (p.Arg72Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258524G>A | CA580653 | KIF1B | c.215G>A (p.Arg72His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258524G>C | CA338324804 | KIF1B | c.215G>C (p.Arg72Pro) | |
| 1 | g.10258524G= | CA1153193416 | KIF1B | c.215G= (p.Arg72=) | |
| 1 | g.10258524G>T | CA338324803 | KIF1B | c.215G>T (p.Arg72Leu) | |
| 1 | g.10258525T>A | CA415879218 | KIF1B | c.216T>A (p.Arg72=) | |
| 1 | g.10258525T>C | CA415879219 | KIF1B | c.216T>C (p.Arg72=) | |
| 1 | g.10258525T>G | CA415879220 | KIF1B | c.216T>G (p.Arg72=) | |
| 1 | g.10258526G>A | CA338324806 | KIF1B | c.217G>A (p.Val73Met) | |
| 1 | g.10258526G>C | CA338324808 | KIF1B | c.217G>C (p.Val73Leu) | |
| 1 | g.10258526G>T | CA338324811 | KIF1B | c.217G>T (p.Val73Leu) | |
| 1 | g.10258527T>A | CA338324820 | KIF1B | c.218T>A (p.Val73Glu) | |
| 1 | g.10258527T>C | CA338324822 | KIF1B | c.218T>C (p.Val73Ala) | |
| 1 | g.10258527T>G | CA338324823 | KIF1B | c.218T>G (p.Val73Gly) | |
| 1 | g.10258528G>A | CA415879222 | KIF1B | c.219G>A (p.Val73=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10258528G>C | CA415879223 | KIF1B | c.219G>C (p.Val73=) | |
| 1 | g.10258528G= | CA1153193418 | KIF1B | c.219G= (p.Val73=) | |
| 1 | g.10258528G>T | CA415879221 | KIF1B | c.219G>T (p.Val73=) | |
| 1 | g.10258529T>A | CA338324824 | KIF1B | c.220T>A (p.Tyr74Asn) | COSMIC COSMIC |
| 1 | g.10258529T>C | CA338324825 | KIF1B | c.220T>C (p.Tyr74His) | |
| 1 | g.10258529T>G | CA338324828 | KIF1B | c.220T>G (p.Tyr74Asp) | |
| 1 | g.10258530A>C | CA338324832 | KIF1B | c.221A>C (p.Tyr74Ser) | |
| 1 | g.10258530A>G | CA338324833 | KIF1B | c.221A>G (p.Tyr74Cys) | |
| 1 | g.10258530A>T | CA338324834 | KIF1B | c.221A>T (p.Tyr74Phe) | |
| 1 | g.10258531C>A | CA338324835 | KIF1B | c.222C>A (p.Tyr74Ter) | gnomAD v4 |
| 1 | g.10258531C>G | CA338324836 | KIF1B | c.222C>G (p.Tyr74Ter) | |
| 1 | g.10258531C>T | CA415879224 | KIF1B | c.222C>T (p.Tyr74=) | gnomAD v4 |
| 1 | g.10258532A= | CA1141845573 | KIF1B | c.223A= (p.Asn75=) | |
| 1 | g.10258532A>C | CA338324838 | KIF1B | c.223A>C (p.Asn75His) | |
| 1 | g.10258532A>G | CA17832782 | KIF1B | c.223A>G (p.Asn75Asp) | dbSNP gnomAD v4 |
| 1 | g.10258532A>T | CA338324841 | KIF1B | c.223A>T (p.Asn75Tyr) | ClinVar |
| 1 | g.10258533A= | CA1153193420 | KIF1B | c.224A= (p.Asn75=) | |
| 1 | g.10258533A>C | CA338324842 | KIF1B | c.224A>C (p.Asn75Thr) | |
| 1 | g.10258533A>G | CA17832785 | KIF1B | c.224A>G (p.Asn75Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258533A>T | CA338324843 | KIF1B | c.224A>T (p.Asn75Ile) | |
| 1 | g.10258534T>A | CA338324847 | KIF1B | c.225T>A (p.Asn75Lys) | |
| 1 | g.10258534T>C | CA415879225 | KIF1B | c.225T>C (p.Asn75=) | |
| 1 | g.10258534T>G | CA338324863 | KIF1B | c.225T>G (p.Asn75Lys) | |
| 1 | g.10258535G>A | CA338324898 | KIF1B | c.226G>A (p.Asp76Asn) | |
| 1 | g.10258535G>C | CA338324901 | KIF1B | c.226G>C (p.Asp76His) | |
| 1 | g.10258535G>T | CA338324904 | KIF1B | c.226G>T (p.Asp76Tyr) | |
| 1 | g.10258536A>C | CA338324907 | KIF1B | c.227A>C (p.Asp76Ala) | |
| 1 | g.10258536A>G | CA338324910 | KIF1B | c.227A>G (p.Asp76Gly) | COSMIC COSMIC |
| 1 | g.10258536A>T | CA338324911 | KIF1B | c.227A>T (p.Asp76Val) | |
| 1 | g.10258537C>A | CA338324913 | KIF1B | c.228C>A (p.Asp76Glu) | |
| 1 | g.10258537C>G | CA338324915 | KIF1B | c.228C>G (p.Asp76Glu) | |
| 1 | g.10258537C>T | CA415879226 | KIF1B | c.228C>T (p.Asp76=) | gnomAD v4 |
| 1 | g.10258538A>C | CA338324916 | KIF1B | c.229A>C (p.Ile77Leu) | |
| 1 | g.10258538A>G | CA338324933 | KIF1B | c.229A>G (p.Ile77Val) | ClinVar |
| 1 | g.10258538A>T | CA338324936 | KIF1B | c.229A>T (p.Ile77Phe) | ClinVar gnomAD v4 |
| 1 | g.10258539T>A | CA338324944 | KIF1B | c.230T>A (p.Ile77Asn) | |
| 1 | g.10258539T>C | CA338324943 | KIF1B | c.230T>C (p.Ile77Thr) | gnomAD v4 |
| 1 | g.10258539T>G | CA338324940 | KIF1B | c.230T>G (p.Ile77Ser) | |
| 1 | g.10258540T>A | CA415879227 | KIF1B | c.231T>A (p.Ile77=) | |
| 1 | g.10258540T>C | CA415879228 | KIF1B | c.231T>C (p.Ile77=) | ClinVar |
| 1 | g.10258540T>G | CA338324946 | KIF1B | c.231T>G (p.Ile77Met) | ClinVar gnomAD v4 |
| 1 | g.10258541G>A | CA338324952 | KIF1B | c.232G>A (p.Gly78Ser) | |
| 1 | g.10258541G>C | CA338324955 | KIF1B | c.232G>C (p.Gly78Arg) | |
| 1 | g.10258541G>T | CA338324962 | KIF1B | c.232G>T (p.Gly78Cys) | |
| 1 | g.10258542G>A | CA338324964 | KIF1B | c.233G>A (p.Gly78Asp) | |
| 1 | g.10258542G>C | CA338324965 | KIF1B | c.233G>C (p.Gly78Ala) | |
| 1 | g.10258542G>T | CA338324966 | KIF1B | c.233G>T (p.Gly78Val) | |
| 1 | g.10258543C>A | CA415879229 | KIF1B | c.234C>A (p.Gly78=) | |
| 1 | g.10258543C>G | CA415879230 | KIF1B | c.234C>G (p.Gly78=) | |
| 1 | g.10258543C>T | CA415879231 | KIF1B | c.234C>T (p.Gly78=) | |
| 1 | g.10258544A>C | CA338324968 | KIF1B | c.235A>C (p.Lys79Gln) | |
| 1 | g.10258544A>G | CA338324969 | KIF1B | c.235A>G (p.Lys79Glu) | |
| 1 | g.10258544A>T | CA338324972 | KIF1B | c.235A>T (p.Lys79Ter) | |
| 1 | g.10258545A= | CA1153193421 | KIF1B | c.236A= (p.Lys79=) | |
| 1 | g.10258545A>C | CA338324975 | KIF1B | c.236A>C (p.Lys79Thr) | |
| 1 | g.10258545A>G | CA338324977 | KIF1B | c.236A>G (p.Lys79Arg) | ClinVar dbSNP |
| 1 | g.10258545A>T | CA338324979 | KIF1B | c.236A>T (p.Lys79Met) | |
| 1 | g.10258546G>A | CA415879232 | KIF1B | c.237G>A (p.Lys79=) | |
| 1 | g.10258546G>C | CA338324982 | KIF1B | c.237G>C (p.Lys79Asn) | |
| 1 | g.10258546G>T | CA338324992 | KIF1B | c.237G>T (p.Lys79Asn) | |
| 1 | g.10258547G>A | CA338325004 | KIF1B | c.238G>A (p.Glu80Lys) | |
| 1 | g.10258547G>C | CA338325007 | KIF1B | c.238G>C (p.Glu80Gln) | |
| 1 | g.10258547G>T | CA338325009 | KIF1B | c.238G>T (p.Glu80Ter) | |
| 1 | g.10258548A>C | CA338325012 | KIF1B | c.239A>C (p.Glu80Ala) | |
| 1 | g.10258548A>G | CA338325019 | KIF1B | c.239A>G (p.Glu80Gly) | ClinVar |
| 1 | g.10258548A>T | CA338325022 | KIF1B | c.239A>T (p.Glu80Val) | |
| 1 | g.10258549A>C | CA338325026 | KIF1B | c.240A>C (p.Glu80Asp) | |
| 1 | g.10258549A>G | CA415879233 | KIF1B | c.240A>G (p.Glu80=) | ClinVar |
| 1 | g.10258549A>T | CA338325029 | KIF1B | c.240A>T (p.Glu80Asp) | |
| 1 | g.10258550A>C | CA338325031 | KIF1B | c.241A>C (p.Met81Leu) | |
| 1 | g.10258550A>G | CA338325035 | KIF1B | c.241A>G (p.Met81Val) | gnomAD v4 |
| 1 | g.10258550A>T | CA338325036 | KIF1B | c.241A>T (p.Met81Leu) | |
| 1 | g.10258551T>A | CA338325040 | KIF1B | c.242T>A (p.Met81Lys) | |
| 1 | g.10258551T>C | CA338325038 | KIF1B | c.242T>C (p.Met81Thr) | |
| 1 | g.10258551T>G | CA338325037 | KIF1B | c.242T>G (p.Met81Arg) | |
| 1 | g.10258552G>A | CA338325049 | KIF1B | c.243G>A (p.Met81Ile) | |
| 1 | g.10258552G>C | CA338325051 | KIF1B | c.243G>C (p.Met81Ile) | |
| 1 | g.10258552G>T | CA338325052 | KIF1B | c.243G>T (p.Met81Ile) | |
| 1 | g.10258553C>A | CA338325053 | KIF1B | c.244C>A (p.Leu82Ile) | |
| 1 | g.10258553C>G | CA338325054 | KIF1B | c.244C>G (p.Leu82Val) | |
| 1 | g.10258553C>T | CA338325066 | KIF1B | c.244C>T (p.Leu82Phe) | |
| 1 | g.10258554T>A | CA338325069 | KIF1B | c.245T>A (p.Leu82His) | |
| 1 | g.10258554T>C | CA338325071 | KIF1B | c.245T>C (p.Leu82Pro) | |
| 1 | g.10258554T>G | CA338325073 | KIF1B | c.245T>G (p.Leu82Arg) | |
| 1 | g.10258555del | CA2573130785 | KIF1B | c.246del (p.Leu83TyrfsTer25) | ClinVar dbSNP |
| 1 | g.10258555C>A | CA415879234 | KIF1B | c.246C>A (p.Leu82=) | |
| 1 | g.10258555C= | CA1153193422 | KIF1B | c.246C= (p.Leu82=) | |
| 1 | g.10258555C>G | CA415879235 | KIF1B | c.246C>G (p.Leu82=) | |
| 1 | g.10258555C>T | CA580654 | KIF1B | c.246C>T (p.Leu82=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258556T>A | CA338325077 | KIF1B | c.247T>A (p.Leu83Ile) | |
| 1 | g.10258556T>C | CA415879236 | KIF1B | c.247T>C (p.Leu83=) | |
| 1 | g.10258556T>G | CA338325080 | KIF1B | c.247T>G (p.Leu83Val) | |
| 1 | g.10258557T>A | CA338325085 | KIF1B | c.248T>A (p.Leu83Ter) | |
| 1 | g.10258557T>C | CA580655 | KIF1B | c.248T>C (p.Leu83Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258557T>G | CA338325084 | KIF1B | c.248T>G (p.Leu83Ter) | |
| 1 | g.10258557T= | CA1145196769 | KIF1B | c.248T= (p.Leu83=) | |
| 1 | g.10258558A= | CA1153193423 | KIF1B | c.249A= (p.Leu83=) | |
| 1 | g.10258558A>C | CA338325086 | KIF1B | c.249A>C (p.Leu83Phe) | |
| 1 | g.10258558A>G | CA415879237 | KIF1B | c.249A>G (p.Leu83=) | |
| 1 | g.10258558A>T | CA338325087 | KIF1B | c.249A>T (p.Leu83Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258559C>A | CA338325090 | KIF1B | c.250C>A (p.His84Asn) | gnomAD v4 |
| 1 | g.10258559C>G | CA338325092 | KIF1B | c.250C>G (p.His84Asp) | |
| 1 | g.10258559C>T | CA338325094 | KIF1B | c.250C>T (p.His84Tyr) | |
| 1 | g.10258560A>C | CA338325096 | KIF1B | c.251A>C (p.His84Pro) | gnomAD v4 |
| 1 | g.10258560A>G | CA338325098 | KIF1B | c.251A>G (p.His84Arg) | COSMIC COSMIC |
| 1 | g.10258560A>T | CA338325101 | KIF1B | c.251A>T (p.His84Leu) | |
| 1 | g.10258561C>A | CA338325106 | KIF1B | c.252C>A (p.His84Gln) | dbSNP |
| 1 | g.10258561C= | CA1153193425 | KIF1B | c.252C= (p.His84=) | |
| 1 | g.10258561C>G | CA338325107 | KIF1B | c.252C>G (p.His84Gln) | |
| 1 | g.10258561C>T | CA580656 | KIF1B | c.252C>T (p.His84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258562G>A | CA17832799 | KIF1B | c.253G>A (p.Ala85Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.10258562G>C | CA338325113 | KIF1B | c.253G>C (p.Ala85Pro) | |
| 1 | g.10258562G= | CA1153193427 | KIF1B | c.253G= (p.Ala85=) | |
| 1 | g.10258562G>T | CA580657 | KIF1B | c.253G>T (p.Ala85Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258563C>A | CA338325123 | KIF1B | c.254C>A (p.Ala85Asp) | |
| 1 | g.10258563C= | CA1153193428 | KIF1B | c.254C= (p.Ala85=) | |
| 1 | g.10258563C>G | CA338325118 | KIF1B | c.254C>G (p.Ala85Gly) | |
| 1 | g.10258563C>T | CA338325120 | KIF1B | c.254C>T (p.Ala85Val) | dbSNP gnomAD v4 |
| 1 | g.10258564C>A | CA415879238 | KIF1B | c.255C>A (p.Ala85=) | |
| 1 | g.10258564C>G | CA415879239 | KIF1B | c.255C>G (p.Ala85=) | |
| 1 | g.10258564C>T | CA415879240 | KIF1B | c.255C>T (p.Ala85=) | |
| 1 | g.10258565T>A | CA338325124 | KIF1B | c.256T>A (p.Phe86Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258565T>C | CA338325125 | KIF1B | c.256T>C (p.Phe86Leu) | |
| 1 | g.10258565T>G | CA338325126 | KIF1B | c.256T>G (p.Phe86Val) | |
| 1 | g.10258565T= | CA1153193430 | KIF1B | c.256T= (p.Phe86=) | |
| 1 | g.10258566T>A | CA338325128 | KIF1B | c.257T>A (p.Phe86Tyr) | |
| 1 | g.10258566T>C | CA338325139 | KIF1B | c.257T>C (p.Phe86Ser) | |
| 1 | g.10258566T>G | CA338325142 | KIF1B | c.257T>G (p.Phe86Cys) | |
| 1 | g.10258567T>A | CA338325145 | KIF1B | c.258T>A (p.Phe86Leu) | |
| 1 | g.10258567T>C | CA415879241 | KIF1B | c.258T>C (p.Phe86=) | |
| 1 | g.10258567T>G | CA338325147 | KIF1B | c.258T>G (p.Phe86Leu) | |
| 1 | g.10258568G>A | CA338325151 | KIF1B | c.259G>A (p.Glu87Lys) | |
| 1 | g.10258568G>C | CA580658 | KIF1B | c.259G>C (p.Glu87Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258568G= | CA1146833368 | KIF1B | c.259G= (p.Glu87=) | |
| 1 | g.10258568G>T | CA338325154 | KIF1B | c.259G>T (p.Glu87Ter) | |
| 1 | g.10258569A>C | CA338325156 | KIF1B | c.260A>C (p.Glu87Ala) | |
| 1 | g.10258569A>G | CA338325157 | KIF1B | c.260A>G (p.Glu87Gly) | |
| 1 | g.10258569A>T | CA338325155 | KIF1B | c.260A>T (p.Glu87Val) | |
| 1 | g.10258570G>A | CA415879242 | KIF1B | c.261G>A (p.Glu87=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10258570G>C | CA338325159 | KIF1B | c.261G>C (p.Glu87Asp) | |
| 1 | g.10258570G= | CA1153193432 | KIF1B | c.261G= (p.Glu87=) | |
| 1 | g.10258570G>T | CA338325160 | KIF1B | c.261G>T (p.Glu87Asp) | |
| 1 | g.10258571G>A | CA338325162 | KIF1B | c.262G>A (p.Gly88Arg) | dbSNP gnomAD v2 |
| 1 | g.10258571G>C | CA338325165 | KIF1B | c.262G>C (p.Gly88Arg) | |
| 1 | g.10258571G= | CA1153193433 | KIF1B | c.262G= (p.Gly88=) | |
| 1 | g.10258571G>T | CA338325166 | KIF1B | c.262G>T (p.Gly88Ter) | |
| 1 | g.10258572G>A | CA338325169 | KIF1B | c.263G>A (p.Gly88Glu) | |
| 1 | g.10258572G>C | CA338325171 | KIF1B | c.263G>C (p.Gly88Ala) | |
| 1 | g.10258572G>T | CA338325172 | KIF1B | c.263G>T (p.Gly88Val) | |
| 1 | g.10258573A= | CA1153193435 | KIF1B | c.264A= (p.Gly88=) | |
| 1 | g.10258573A>C | CA415879244 | KIF1B | c.264A>C (p.Gly88=) | |
| 1 | g.10258573A>G | CA580659 | KIF1B | c.264A>G (p.Gly88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10258573A>T | CA415879243 | KIF1B | c.264A>T (p.Gly88=) | |
| 1 | g.10258574T>A | CA338325173 | KIF1B | c.265T>A (p.Tyr89Asn) | |
| 1 | g.10258574T>C | CA338325175 | KIF1B | c.265T>C (p.Tyr89His) | |
| 1 | g.10258574T>G | CA338325176 | KIF1B | c.265T>G (p.Tyr89Asp) | |
| 1 | g.10258575A>C | CA338325181 | KIF1B | c.266A>C (p.Tyr89Ser) | |
| 1 | g.10258575A>G | CA338325185 | KIF1B | c.266A>G (p.Tyr89Cys) | gnomAD v4 |
| 1 | g.10258575A>T | CA338325178 | KIF1B | c.266A>T (p.Tyr89Phe) | |
| 1 | g.10258576T>A | CA338325188 | KIF1B | c.267T>A (p.Tyr89Ter) | |
| 1 | g.10258576T>C | CA415879245 | KIF1B | c.267T>C (p.Tyr89=) | |
| 1 | g.10258576T>G | CA338325191 | KIF1B | c.267T>G (p.Tyr89Ter) | |
| 1 | g.10258577A>C | CA338325193 | KIF1B | c.268A>C (p.Asn90His) | |
| 1 | g.10258577A>G | CA338325194 | KIF1B | c.268A>G (p.Asn90Asp) | |
| 1 | g.10258577A>T | CA338325195 | KIF1B | c.268A>T (p.Asn90Tyr) | |
| 1 | g.10258578A>C | CA338325201 | KIF1B | c.269A>C (p.Asn90Thr) | |
| 1 | g.10258578A>G | CA338325198 | KIF1B | c.269A>G (p.Asn90Ser) | gnomAD v4 |
| 1 | g.10258578A>T | CA338325200 | KIF1B | c.269A>T (p.Asn90Ile) | |
| 1 | g.10258579T>A | CA338325204 | KIF1B | c.270T>A (p.Asn90Lys) | |
| 1 | g.10258579T>C | CA415879246 | KIF1B | c.270T>C (p.Asn90=) | |
| 1 | g.10258579T>G | CA338325206 | KIF1B | c.270T>G (p.Asn90Lys) | |
| 1 | g.10258580G>A | CA338325208 | KIF1B | c.271G>A (p.Val91Ile) | |
| 1 | g.10258580G>C | CA338325209 | KIF1B | c.271G>C (p.Val91Leu) | |
| 1 | g.10258580G>T | CA338325211 | KIF1B | c.271G>T (p.Val91Phe) | |
| 1 | g.10258581T>A | CA338325217 | KIF1B | c.272T>A (p.Val91Asp) | |
| 1 | g.10258581T>C | CA338325215 | KIF1B | c.272T>C (p.Val91Ala) | |
| 1 | g.10258581T>G | CA338325214 | KIF1B | c.272T>G (p.Val91Gly) | |
| 1 | g.10258582C>A | CA415879247 | KIF1B | c.273C>A (p.Val91=) | |
| 1 | g.10258582C>G | CA415879248 | KIF1B | c.273C>G (p.Val91=) | gnomAD v4 |
| 1 | g.10258582C>T | CA415879249 | KIF1B | c.273C>T (p.Val91=) | |
| 1 | g.10258583T>A | CA338325219 | KIF1B | c.274T>A (p.Cys92Ser) | |
| 1 | g.10258583T>C | CA338325221 | KIF1B | c.274T>C (p.Cys92Arg) | |
| 1 | g.10258583T>G | CA338325220 | KIF1B | c.274T>G (p.Cys92Gly) | |
| 1 | g.10258584G>A | CA338325223 | KIF1B | c.275G>A (p.Cys92Tyr) | |
| 1 | g.10258584G>C | CA338325224 | KIF1B | c.275G>C (p.Cys92Ser) | |
| 1 | g.10258584G>T | CA338325226 | KIF1B | c.275G>T (p.Cys92Phe) | |
| 1 | g.10258585T>A | CA338325228 | KIF1B | c.276T>A (p.Cys92Ter) | |
| 1 | g.10258585T>C | CA415879250 | KIF1B | c.276T>C (p.Cys92=) | |
| 1 | g.10258585T>G | CA338325230 | KIF1B | c.276T>G (p.Cys92Trp) | |
| 1 | g.10258586A>C | CA338325234 | KIF1B | c.277A>C (p.Ile93Leu) | |
| 1 | g.10258586A>G | CA338325235 | KIF1B | c.277A>G (p.Ile93Val) | |
| 1 | g.10258586A>T | CA338325236 | KIF1B | c.277A>T (p.Ile93Phe) | |
| 1 | g.10258587T>A | CA338325237 | KIF1B | c.278T>A (p.Ile93Asn) | |
| 1 | g.10258587T>C | CA338325240 | KIF1B | c.278T>C (p.Ile93Thr) | |
| 1 | g.10258587T>G | CA338325239 | KIF1B | c.278T>G (p.Ile93Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10258587T= | CA1153193438 | KIF1B | c.278T= (p.Ile93=) | |
| 1 | g.10258588T>A | CA415879251 | KIF1B | c.279T>A (p.Ile93=) | |
| 1 | g.10258588T>C | CA415879252 | KIF1B | c.279T>C (p.Ile93=) | |
| 1 | g.10258588T>G | CA338325244 | KIF1B | c.279T>G (p.Ile93Met) | |
| 1 | g.10258589T>A | CA338325247 | KIF1B | c.280T>A (p.Phe94Ile) | |
| 1 | g.10258589T>C | CA338325250 | KIF1B | c.280T>C (p.Phe94Leu) | |
| 1 | g.10258589T>G | CA338325252 | KIF1B | c.280T>G (p.Phe94Val) | |
| 1 | g.10258590T>A | CA338325255 | KIF1B | c.281T>A (p.Phe94Tyr) | |
| 1 | g.10258590T>C | CA338325261 | KIF1B | c.281T>C (p.Phe94Ser) | |
| 1 | g.10258590T>G | CA338325258 | KIF1B | c.281T>G (p.Phe94Cys) | |
| 1 | g.10258591T>A | CA338325262 | KIF1B | c.282T>A (p.Phe94Leu) | |
| 1 | g.10258591T>C | CA415879253 | KIF1B | c.282T>C (p.Phe94=) | |
| 1 | g.10258591T>G | CA338325264 | KIF1B | c.282T>G (p.Phe94Leu) | |
| 1 | g.10258592G>A | CA338325267 | KIF1B | c.283G>A (p.Ala95Thr) | |
| 1 | g.10258592G>C | CA338325269 | KIF1B | c.283G>C (p.Ala95Pro) | |
| 1 | g.10258592G>T | CA338325275 | KIF1B | c.283G>T (p.Ala95Ser) | |
| 1 | g.10258592_10258594del | CA2742435482 | KIF1B | c.283_285del (p.Ala95del) | |
| 1 | g.10258593C>A | CA338325277 | KIF1B | c.284C>A (p.Ala95Asp) | |
| 1 | g.10258593C= | CA1153193439 | KIF1B | c.284C= (p.Ala95=) | |
| 1 | g.10258593C>G | CA338325279 | KIF1B | c.284C>G (p.Ala95Gly) | gnomAD v4 |
| 1 | g.10258593C>T | CA338325282 | KIF1B | c.284C>T (p.Ala95Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10258594C>A | CA580660 | KIF1B | c.285C>A (p.Ala95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258594C= | CA1140390565 | KIF1B | c.285C= (p.Ala95=) | |
| 1 | g.10258594C>G | CA153386 | KIF1B | c.285C>G (p.Ala95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258594C>T | CA580661 | KIF1B | c.285C>T (p.Ala95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258595T>A | CA338325298 | KIF1B | c.286T>A (p.Tyr96Asn) | |
| 1 | g.10258595T>C | CA338325302 | KIF1B | c.286T>C (p.Tyr96His) | |
| 1 | g.10258595T>G | CA338325301 | KIF1B | c.286T>G (p.Tyr96Asp) | |
| 1 | g.10258596A= | CA1153193443 | KIF1B | c.287A= (p.Tyr96=) | |
| 1 | g.10258596A>C | CA338325304 | KIF1B | c.287A>C (p.Tyr96Ser) | |
| 1 | g.10258596A>G | CA580662 | KIF1B | c.287A>G (p.Tyr96Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258596A>T | CA338325308 | KIF1B | c.287A>T (p.Tyr96Phe) | |
| 1 | g.10258597T>A | CA338325312 | KIF1B | c.288T>A (p.Tyr96Ter) | |
| 1 | g.10258597T>C | CA580663 | KIF1B | c.288T>C (p.Tyr96=) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.10258597T>G | CA338325316 | KIF1B | c.288T>G (p.Tyr96Ter) | |
| 1 | g.10258597T= | CA1153193446 | KIF1B | c.288T= (p.Tyr96=) | |
| 1 | g.10258598G>A | CA338325319 | KIF1B | c.289G>A (p.Gly97Arg) | |
| 1 | g.10258598G>C | CA338325320 | KIF1B | c.289G>C (p.Gly97Arg) | |
| 1 | g.10258598G>T | CA338325324 | KIF1B | c.289G>T (p.Gly97Trp) | gnomAD v4 |
| 1 | g.10258598_10258600del | CA2742435483 | KIF1B | c.289_291del (p.Gly97del) | |
| 1 | g.10258599G>A | CA338325327 | KIF1B | c.290G>A (p.Gly97Glu) | |
| 1 | g.10258599G>C | CA338325333 | KIF1B | c.290G>C (p.Gly97Ala) | |
| 1 | g.10258599G>T | CA338325336 | KIF1B | c.290G>T (p.Gly97Val) | |
| 1 | g.10258600G>A | CA17832857 | KIF1B | c.291G>A (p.Gly97=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10258600G>C | CA415879255 | KIF1B | c.291G>C (p.Gly97=) | |
| 1 | g.10258600G= | CA1153193448 | KIF1B | c.291G= (p.Gly97=) | |
| 1 | g.10258600G>T | CA415879254 | KIF1B | c.291G>T (p.Gly97=) | |
| 1 | g.10258600_10258601insTTTTTT | CA2742435484 | KIF1B | c.291_292insTTTTTT (p.Gly97_Gln98insPhePhe) | |
| 1 | g.10258601C>A | CA338325349 | KIF1B | c.292C>A (p.Gln98Lys) | |
| 1 | g.10258601C>G | CA338325339 | KIF1B | c.292C>G (p.Gln98Glu) | |
| 1 | g.10258601C>T | CA338325341 | KIF1B | c.292C>T (p.Gln98Ter) | |
| 1 | g.10258602A= | CA1141580562 | KIF1B | c.293A= (p.Gln98=) | |
| 1 | g.10258602A>C | CA338325351 | KIF1B | c.293A>C (p.Gln98Pro) | |
| 1 | g.10258602A>G | CA338325353 | KIF1B | c.293A>G (p.Gln98Arg) | |
| 1 | g.10258602A>T | CA253243 | KIF1B | c.293A>T (p.Gln98Leu) | ClinVar dbSNP |
| 1 | g.10258603G>A | CA415879256 | KIF1B | c.294G>A (p.Gln98=) | |
| 1 | g.10258603G>C | CA338325357 | KIF1B | c.294G>C (p.Gln98His) | |
| 1 | g.10258603G>T | CA338325360 | KIF1B | c.294G>T (p.Gln98His) | |
| 1 | g.10258604A>C | CA338325363 | KIF1B | c.295A>C (p.Thr99Pro) | |
| 1 | g.10258604A>G | CA338325365 | KIF1B | c.295A>G (p.Thr99Ala) | |
| 1 | g.10258604A>T | CA338325368 | KIF1B | c.295A>T (p.Thr99Ser) | |
| 1 | g.10258605C>A | CA338325371 | KIF1B | c.296C>A (p.Thr99Asn) | |
| 1 | g.10258605C>G | CA338325373 | KIF1B | c.296C>G (p.Thr99Ser) | |
| 1 | g.10258605C>T | CA338325375 | KIF1B | c.296C>T (p.Thr99Ile) | |
| 1 | g.10258606T>A | CA415879257 | KIF1B | c.297T>A (p.Thr99=) | |
| 1 | g.10258606T>C | CA415879258 | KIF1B | c.297T>C (p.Thr99=) | ClinVar |
| 1 | g.10258606T>G | CA415879259 | KIF1B | c.297T>G (p.Thr99=) | |
| 1 | g.10258607G>A | CA338325385 | KIF1B | c.298G>A (p.Gly100Ser) | |
| 1 | g.10258607G>C | CA338325382 | KIF1B | c.298G>C (p.Gly100Arg) | |
| 1 | g.10258607G>T | CA338325379 | KIF1B | c.298G>T (p.Gly100Cys) | |
| 1 | g.10258608G>A | CA338325388 | KIF1B | c.299G>A (p.Gly100Asp) | |
| 1 | g.10258608G>C | CA338325394 | KIF1B | c.299G>C (p.Gly100Ala) | |
| 1 | g.10258608G>T | CA338325392 | KIF1B | c.299G>T (p.Gly100Val) | ClinVar |
| 1 | g.10258609T>A | CA415879260 | KIF1B | c.300T>A (p.Gly100=) | |
| 1 | g.10258609T>C | CA415879261 | KIF1B | c.300T>C (p.Gly100=) | |
| 1 | g.10258609T>G | CA415879262 | KIF1B | c.300T>G (p.Gly100=) | |
| 1 | g.10258610G>A | CA338325395 | KIF1B | c.301G>A (p.Ala101Thr) | |
| 1 | g.10258610G>C | CA338325397 | KIF1B | c.301G>C (p.Ala101Pro) | |
| 1 | g.10258610G>T | CA338325401 | KIF1B | c.301G>T (p.Ala101Ser) | |
| 1 | g.10258611C>A | CA338325403 | KIF1B | c.302C>A (p.Ala101Asp) | |
| 1 | g.10258611C>G | CA338325404 | KIF1B | c.302C>G (p.Ala101Gly) | |
| 1 | g.10258611C>T | CA338325407 | KIF1B | c.302C>T (p.Ala101Val) |