| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89631617_89631631delinsCGCTGCCCTGCCGCA | CA2194759715 | KIF7 | c.3098_3112delinsTGCGGCAGGGCAGCG (p.Leu1033=) c.2975_2989delinsTGCGGCAGGGCAGCG (p.Leu992=) n.649_663delinsTGCGGCAGGGCAGCG c.3095_3109delinsTGCGGCAGGGCAGCG (p.Leu1032=) | |
| 15 | g.89631621_89631641dup | CA2731483685 | KIF7 | c.3092_3112dup (p.Ser1037_Ala1038insGlyGlnLeuArgGlnGlySer) c.2969_2989dup (p.Ser996_Ala997insGlyGlnLeuArgGlnGlySer) n.643_663dup c.3089_3109dup (p.Ser1036_Ala1037insGlyGlnLeuArgGlnGlySer) | dbSNP |
| 15 | g.89631625_89631638del | CA919614320 | KIF7 | c.3098_3111del (p.Leu1033ArgfsTer?) c.2975_2988del (p.Leu992ArgfsTer?) n.649_662del c.3095_3108del (p.Leu1032ArgfsTer?) | dbSNP |
| 15 | g.89631625T>A | CA393757255 | KIF7 | c.3104A>T (p.Gln1035Leu) c.2981A>T (p.Gln994Leu) n.655A>T c.3101A>T (p.Gln1034Leu) | |
| 15 | g.89631625T>C | CA020312 | KIF7 | c.3104A>G (p.Gln1035Arg) c.2981A>G (p.Gln994Arg) n.655A>G c.3101A>G (p.Gln1034Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89631625T>G | CA393757258 | KIF7 | c.3104A>C (p.Gln1035Pro) c.2981A>C (p.Gln994Pro) n.655A>C c.3101A>C (p.Gln1034Pro) | |
| 15 | g.89631625T= | CA2194759728 | KIF7 | c.3104A= (p.Gln1035=) c.2981A= (p.Gln994=) n.655A= c.3101A= (p.Gln1034=) | |
| 15 | g.89631626G>A | CA393757260 | KIF7 | c.3103C>T (p.Gln1035Ter) c.2980C>T (p.Gln994Ter) n.654C>T c.3100C>T (p.Gln1034Ter) | gnomAD v4 |
| 15 | g.89631626G>C | CA393757262 | KIF7 | c.3103C>G (p.Gln1035Glu) c.2980C>G (p.Gln994Glu) n.654C>G c.3100C>G (p.Gln1034Glu) | |
| 15 | g.89631626G>T | CA393757264 | KIF7 | c.3103C>A (p.Gln1035Lys) c.2980C>A (p.Gln994Lys) n.654C>A c.3100C>A (p.Gln1034Lys) | gnomAD v4 |
| 15 | g.89631627C>A | CA7727867 | KIF7 | c.3102G>T (p.Arg1034=) c.2979G>T (p.Arg993=) n.653G>T c.3099G>T (p.Arg1033=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89631627C= | CA2194759730 | KIF7 | c.3102G= (p.Arg1034=) c.2979G= (p.Arg993=) n.653G= c.3099G= (p.Arg1033=) | |
| 15 | g.89631627C>G | CA492292488 | KIF7 | c.3102G>C (p.Arg1034=) c.2979G>C (p.Arg993=) n.653G>C c.3099G>C (p.Arg1033=) | |
| 15 | g.89631627C>T | CA492292487 | KIF7 | c.3102G>A (p.Arg1034=) c.2979G>A (p.Arg993=) n.653G>A c.3099G>A (p.Arg1033=) | dbSNP gnomAD v4 |
| 15 | g.89631628C>A | CA393757271 | KIF7 | c.3101G>T (p.Arg1034Leu) c.2978G>T (p.Arg993Leu) n.652G>T c.3098G>T (p.Arg1033Leu) | gnomAD v4 |
| 15 | g.89631628C= | CA2194759736 | KIF7 | c.3101G= (p.Arg1034=) c.2978G= (p.Arg993=) n.652G= c.3098G= (p.Arg1033=) | |
| 15 | g.89631628C>G | CA393757269 | KIF7 | c.3101G>C (p.Arg1034Pro) c.2978G>C (p.Arg993Pro) n.652G>C c.3098G>C (p.Arg1033Pro) | dbSNP |
| 15 | g.89631628C>T | CA7727868 | KIF7 | c.3101G>A (p.Arg1034Gln) c.2978G>A (p.Arg993Gln) n.652G>A c.3098G>A (p.Arg1033Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89631629G>A | CA274566524 | KIF7 | c.3100C>T (p.Arg1034Trp) c.2977C>T (p.Arg993Trp) n.651C>T c.3097C>T (p.Arg1033Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89631629G>C | CA393757274 | KIF7 | c.3100C>G (p.Arg1034Gly) c.2977C>G (p.Arg993Gly) n.651C>G c.3097C>G (p.Arg1033Gly) | |
| 15 | g.89631629G= | CA2194759743 | KIF7 | c.3100C= (p.Arg1034=) c.2977C= (p.Arg993=) n.651C= c.3097C= (p.Arg1033=) | |
| 15 | g.89631629G>T | CA492292489 | KIF7 | c.3100C>A (p.Arg1034=) c.2977C>A (p.Arg993=) n.651C>A c.3097C>A (p.Arg1033=) | gnomAD v4 |
| 15 | g.89631630C>A | CA492292490 | KIF7 | c.3099G>T (p.Leu1033=) c.2976G>T (p.Leu992=) n.650G>T c.3096G>T (p.Leu1032=) | |
| 15 | g.89631630C>G | CA492292491 | KIF7 | c.3099G>C (p.Leu1033=) c.2976G>C (p.Leu992=) n.650G>C c.3096G>C (p.Leu1032=) | |
| 15 | g.89631630C>T | CA492292492 | KIF7 | c.3099G>A (p.Leu1033=) c.2976G>A (p.Leu992=) n.650G>A c.3096G>A (p.Leu1032=) | gnomAD v4 |
| 15 | g.89631631A>C | CA393757276 | KIF7 | c.3098T>G (p.Leu1033Arg) c.2975T>G (p.Leu992Arg) n.649T>G c.3095T>G (p.Leu1032Arg) | |
| 15 | g.89631631A>G | CA393757278 | KIF7 | c.3098T>C (p.Leu1033Pro) c.2975T>C (p.Leu992Pro) n.649T>C c.3095T>C (p.Leu1032Pro) | gnomAD v4 |
| 15 | g.89631631A>T | CA393757280 | KIF7 | c.3098T>A (p.Leu1033Gln) c.2975T>A (p.Leu992Gln) n.649T>A c.3095T>A (p.Leu1032Gln) | |
| 15 | g.89631632del | CA2630273971 | KIF7 | c.3097del (p.Leu1033CysfsTer?) c.2974del (p.Leu992CysfsTer?) n.648del c.3094del (p.Leu1032CysfsTer?) | gnomAD v4 |
| 15 | g.89631632G>A | CA274566529 | KIF7 | c.3097C>T (p.Leu1033=) c.2974C>T (p.Leu992=) n.648C>T c.3094C>T (p.Leu1032=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89631632G>C | CA393757282 | KIF7 | c.3097C>G (p.Leu1033Val) c.2974C>G (p.Leu992Val) n.648C>G c.3094C>G (p.Leu1032Val) | |
| 15 | g.89631632G= | CA2194759748 | KIF7 | c.3097C= (p.Leu1033=) c.2974C= (p.Leu992=) n.648C= c.3094C= (p.Leu1032=) | |
| 15 | g.89631632G>T | CA274566527 | KIF7 | c.3097C>A (p.Leu1033Met) c.2974C>A (p.Leu992Met) n.648C>A c.3094C>A (p.Leu1032Met) | dbSNP gnomAD v4 |
| 15 | g.89631633C>A | CA393757285 | KIF7 | c.3096G>T (p.Gln1032His) c.2973G>T (p.Gln991His) n.647G>T c.3093G>T (p.Gln1031His) | gnomAD v4 |
| 15 | g.89631633C>G | CA393757286 | KIF7 | c.3096G>C (p.Gln1032His) c.2973G>C (p.Gln991His) n.647G>C c.3093G>C (p.Gln1031His) | |
| 15 | g.89631633C>T | CA492292493 | KIF7 | c.3096G>A (p.Gln1032=) c.2973G>A (p.Gln991=) n.647G>A c.3093G>A (p.Gln1031=) | |
| 15 | g.89631634T>A | CA393757289 | KIF7 | c.3095A>T (p.Gln1032Leu) c.2972A>T (p.Gln991Leu) n.646A>T c.3092A>T (p.Gln1031Leu) | |
| 15 | g.89631634T>C | CA393757291 | KIF7 | c.3095A>G (p.Gln1032Arg) c.2972A>G (p.Gln991Arg) n.646A>G c.3092A>G (p.Gln1031Arg) | |
| 15 | g.89631634T>G | CA393757293 | KIF7 | c.3095A>C (p.Gln1032Pro) c.2972A>C (p.Gln991Pro) n.646A>C c.3092A>C (p.Gln1031Pro) | |
| 15 | g.89631635G>A | CA393757294 | KIF7 | c.3094C>T (p.Gln1032Ter) c.2971C>T (p.Gln991Ter) n.645C>T c.3091C>T (p.Gln1031Ter) | |
| 15 | g.89631635G>C | CA393757299 | KIF7 | c.3094C>G (p.Gln1032Glu) c.2971C>G (p.Gln991Glu) n.645C>G c.3091C>G (p.Gln1031Glu) | gnomAD v4 |
| 15 | g.89631635G= | CA2194759753 | KIF7 | c.3094C= (p.Gln1032=) c.2971C= (p.Gln991=) n.645C= c.3091C= (p.Gln1031=) | |
| 15 | g.89631635G>T | CA393757297 | KIF7 | c.3094C>A (p.Gln1032Lys) c.2971C>A (p.Gln991Lys) n.645C>A c.3091C>A (p.Gln1031Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89631636C>A | CA492292494 | KIF7 | c.3093G>T (p.Gly1031=) c.2970G>T (p.Gly990=) n.644G>T c.3090G>T (p.Gly1030=) | |
| 15 | g.89631636C>G | CA492292495 | KIF7 | c.3093G>C (p.Gly1031=) c.2970G>C (p.Gly990=) n.644G>C c.3090G>C (p.Gly1030=) | |
| 15 | g.89631636C>T | CA492292496 | KIF7 | c.3093G>A (p.Gly1031=) c.2970G>A (p.Gly990=) n.644G>A c.3090G>A (p.Gly1030=) | gnomAD v4 |
| 15 | g.89631637C>A | CA393757300 | KIF7 | c.3092G>T (p.Gly1031Val) c.2969G>T (p.Gly990Val) n.643G>T c.3089G>T (p.Gly1030Val) | gnomAD v4 |
| 15 | g.89631637C= | CA2194759757 | KIF7 | c.3092G= (p.Gly1031=) c.2969G= (p.Gly990=) n.643G= c.3089G= (p.Gly1030=) | |
| 15 | g.89631637C>G | CA393757304 | KIF7 | c.3092G>C (p.Gly1031Ala) c.2969G>C (p.Gly990Ala) n.643G>C c.3089G>C (p.Gly1030Ala) | |
| 15 | g.89631637C>T | CA393757303 | KIF7 | c.3092G>A (p.Gly1031Glu) c.2969G>A (p.Gly990Glu) n.643G>A c.3089G>A (p.Gly1030Glu) | dbSNP gnomAD v4 |