OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.92645442C>A | CA377594024 | KIF11 | c.2347C>A (p.Leu783Ile) c.*865C>A (n.*865C>A) c.2140C>A (p.Leu714Ile) c.*321C>A (n.*321C>A) | |
| 10 | g.92645442C>G | CA377594023 | KIF11 | c.2347C>G (p.Leu783Val) c.*865C>G (n.*865C>G) c.2140C>G (p.Leu714Val) c.*321C>G (n.*321C>G) | |
| 10 | g.92645442C>T | CA377594022 | KIF11 | c.2347C>T (p.Leu783Phe) c.*865C>T (n.*865C>T) c.2140C>T (p.Leu714Phe) c.*321C>T (n.*321C>T) | |
| 10 | g.92645443T>A | CA377594025 | KIF11 | c.2348T>A (p.Leu783His) c.*866T>A (n.*866T>A) c.2141T>A (p.Leu714His) c.*322T>A (n.*322T>A) | |
| 10 | g.92645443T>C | CA377594026 | KIF11 | c.2348T>C (p.Leu783Pro) c.*866T>C (n.*866T>C) c.2141T>C (p.Leu714Pro) c.*322T>C (n.*322T>C) | |
| 10 | g.92645443T>G | CA377594027 | KIF11 | c.2348T>G (p.Leu783Arg) c.*866T>G (n.*866T>G) c.2141T>G (p.Leu714Arg) c.*322T>G (n.*322T>G) | |
| 10 | g.92645444C>A | CA470982732 | KIF11 | c.2349C>A (p.Leu783=) c.*867C>A (n.*867C>A) c.2142C>A (p.Leu714=) c.*323C>A (n.*323C>A) | |
| 10 | g.92645444C= | CA1928269251 | KIF11 | c.2349C= (p.Leu783=) c.*867C= (n.*867C=) c.2142C= (p.Leu714=) c.*323C= (n.*323C=) | |
| 10 | g.92645444C>G | CA470982731 | KIF11 | c.2349C>G (p.Leu783=) c.*867C>G (n.*867C>G) c.2142C>G (p.Leu714=) c.*323C>G (n.*323C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645444C>T | CA470982730 | KIF11 | c.2349C>T (p.Leu783=) c.*867C>T (n.*867C>T) c.2142C>T (p.Leu714=) c.*323C>T (n.*323C>T) | |
| 10 | g.92645445A>C | CA470982733 | KIF11 | c.2350A>C (p.Arg784=) c.*868A>C (n.*868A>C) c.2143A>C (p.Arg715=) c.*324A>C (n.*324A>C) | |
| 10 | g.92645445A>G | CA377594028 | KIF11 | c.2350A>G (p.Arg784Gly) c.*868A>G (n.*868A>G) c.2143A>G (p.Arg715Gly) c.*324A>G (n.*324A>G) | |
| 10 | g.92645445A>T | CA377594029 | KIF11 | c.2350A>T (p.Arg784Ter) c.*868A>T (n.*868A>T) c.2143A>T (p.Arg715Ter) c.*324A>T (n.*324A>T) | |
| 10 | g.92645446_92645447del | CA2573145840 | KIF11 | c.2351_2352del (p.Arg784LysfsTer3) c.*869_*870del (n.*869_*870del) c.2144_2145del (p.Arg715LysfsTer3) c.*325_*326del (n.*325_*326del) | ClinVar dbSNP |
| 10 | g.92645446G>A | CA377594030 | KIF11 | c.2351G>A (p.Arg784Lys) c.*869G>A (n.*869G>A) c.2144G>A (p.Arg715Lys) c.*325G>A (n.*325G>A) | |
| 10 | g.92645446G>C | CA377594031 | KIF11 | c.2351G>C (p.Arg784Thr) c.*869G>C (n.*869G>C) c.2144G>C (p.Arg715Thr) c.*325G>C (n.*325G>C) | |
| 10 | g.92645446G>T | CA377594032 | KIF11 | c.2351G>T (p.Arg784Ile) c.*869G>T (n.*869G>T) c.2144G>T (p.Arg715Ile) c.*325G>T (n.*325G>T) | |
| 10 | g.92645447A>C | CA377594033 | KIF11 | c.2352A>C (p.Arg784Ser) c.*870A>C (n.*870A>C) c.2145A>C (p.Arg715Ser) c.*326A>C (n.*326A>C) | |
| 10 | g.92645447A>G | CA470982734 | KIF11 | c.2352A>G (p.Arg784=) c.*870A>G (n.*870A>G) c.2145A>G (p.Arg715=) c.*326A>G (n.*326A>G) | |
| 10 | g.92645447A>T | CA377594034 | KIF11 | c.2352A>T (p.Arg784Ser) c.*870A>T (n.*870A>T) c.2145A>T (p.Arg715Ser) c.*326A>T (n.*326A>T) | |
| 10 | g.92645448A>C | CA377594035 | KIF11 | c.2353A>C (p.Asn785His) c.*871A>C (n.*871A>C) c.2146A>C (p.Asn716His) c.*327A>C (n.*327A>C) | |
| 10 | g.92645448A>G | CA377594036 | KIF11 | c.2353A>G (p.Asn785Asp) c.*871A>G (n.*871A>G) c.2146A>G (p.Asn716Asp) c.*327A>G (n.*327A>G) | |
| 10 | g.92645448A>T | CA377594037 | KIF11 | c.2353A>T (p.Asn785Tyr) c.*871A>T (n.*871A>T) c.2146A>T (p.Asn716Tyr) c.*327A>T (n.*327A>T) | |
| 10 | g.92645449A>C | CA377594038 | KIF11 | c.2354A>C (p.Asn785Thr) c.*872A>C (n.*872A>C) c.2147A>C (p.Asn716Thr) c.*328A>C (n.*328A>C) | |
| 10 | g.92645449A>G | CA377594040 | KIF11 | c.2354A>G (p.Asn785Ser) c.*872A>G (n.*872A>G) c.2147A>G (p.Asn716Ser) c.*328A>G (n.*328A>G) | gnomAD v4 |
| 10 | g.92645449A>T | CA377594039 | KIF11 | c.2354A>T (p.Asn785Ile) c.*872A>T (n.*872A>T) c.2147A>T (p.Asn716Ile) c.*328A>T (n.*328A>T) | |
| 10 | g.92645450T>A | CA377594041 | KIF11 | c.2355T>A (p.Asn785Lys) c.*873T>A (n.*873T>A) c.2148T>A (p.Asn716Lys) c.*329T>A (n.*329T>A) | |
| 10 | g.92645450T>C | CA470982735 | KIF11 | c.2355T>C (p.Asn785=) c.*873T>C (n.*873T>C) c.2148T>C (p.Asn716=) c.*329T>C (n.*329T>C) | |
| 10 | g.92645450T>G | CA377594042 | KIF11 | c.2355T>G (p.Asn785Lys) c.*873T>G (n.*873T>G) c.2148T>G (p.Asn716Lys) c.*329T>G (n.*329T>G) | dbSNP |
| 10 | g.92645450T= | CA1928269252 | KIF11 | c.2355T= (p.Asn785=) c.*873T= (n.*873T=) c.2148T= (p.Asn716=) c.*329T= (n.*329T=) | |
| 10 | g.92645451T>A | CA377594043 | KIF11 | c.2356T>A (p.Phe786Ile) c.*874T>A (n.*874T>A) c.2149T>A (p.Phe717Ile) c.*330T>A (n.*330T>A) | |
| 10 | g.92645451T>C | CA377594044 | KIF11 | c.2356T>C (p.Phe786Leu) c.*874T>C (n.*874T>C) c.2149T>C (p.Phe717Leu) c.*330T>C (n.*330T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645451T>G | CA377594045 | KIF11 | c.2356T>G (p.Phe786Val) c.*874T>G (n.*874T>G) c.2149T>G (p.Phe717Val) c.*330T>G (n.*330T>G) | |
| 10 | g.92645451T= | CA1928269253 | KIF11 | c.2356T= (p.Phe786=) c.*874T= (n.*874T=) c.2149T= (p.Phe717=) c.*330T= (n.*330T=) | |
| 10 | g.92645452T>A | CA377594046 | KIF11 | c.2357T>A (p.Phe786Tyr) c.*875T>A (n.*875T>A) c.2150T>A (p.Phe717Tyr) c.*331T>A (n.*331T>A) | |
| 10 | g.92645452T>C | CA377594047 | KIF11 | c.2357T>C (p.Phe786Ser) c.*875T>C (n.*875T>C) c.2150T>C (p.Phe717Ser) c.*331T>C (n.*331T>C) | |
| 10 | g.92645452T>G | CA377594048 | KIF11 | c.2357T>G (p.Phe786Cys) c.*875T>G (n.*875T>G) c.2150T>G (p.Phe717Cys) c.*331T>G (n.*331T>G) | |
| 10 | g.92645453T>A | CA377594049 | KIF11 | c.2358T>A (p.Phe786Leu) c.*876T>A (n.*876T>A) c.2151T>A (p.Phe717Leu) c.*332T>A (n.*332T>A) | |
| 10 | g.92645453T>C | CA470982736 | KIF11 | c.2358T>C (p.Phe786=) c.*876T>C (n.*876T>C) c.2151T>C (p.Phe717=) c.*332T>C (n.*332T>C) | |
| 10 | g.92645453T>G | CA377594050 | KIF11 | c.2358T>G (p.Phe786Leu) c.*876T>G (n.*876T>G) c.2151T>G (p.Phe717Leu) c.*332T>G (n.*332T>G) | |
| 10 | g.92645454A>C | CA377594052 | KIF11 | c.2359A>C (p.Asn787His) c.*877A>C (n.*877A>C) c.2152A>C (p.Asn718His) c.*333A>C (n.*333A>C) | |
| 10 | g.92645454A>G | CA377594053 | KIF11 | c.2359A>G (p.Asn787Asp) c.*877A>G (n.*877A>G) c.2152A>G (p.Asn718Asp) c.*333A>G (n.*333A>G) | |
| 10 | g.92645454A>T | CA377594051 | KIF11 | c.2359A>T (p.Asn787Tyr) c.*877A>T (n.*877A>T) c.2152A>T (p.Asn718Tyr) c.*333A>T (n.*333A>T) | |
| 10 | g.92645455A= | CA1928269254 | KIF11 | c.2360A= (p.Asn787=) c.*878A= (n.*878A=) c.2153A= (p.Asn718=) c.*334A= (n.*334A=) | |
| 10 | g.92645455A>C | CA377594054 | KIF11 | c.2360A>C (p.Asn787Thr) c.*878A>C (n.*878A>C) c.2153A>C (p.Asn718Thr) c.*334A>C (n.*334A>C) | |
| 10 | g.92645455A>G | CA377594055 | KIF11 | c.2360A>G (p.Asn787Ser) c.*878A>G (n.*878A>G) c.2153A>G (p.Asn718Ser) c.*334A>G (n.*334A>G) | |
| 10 | g.92645455A>T | CA377594056 | KIF11 | c.2360A>T (p.Asn787Ile) c.*878A>T (n.*878A>T) c.2153A>T (p.Asn718Ile) c.*334A>T (n.*334A>T) | dbSNP |
| 10 | g.92645456C>A | CA377594057 | KIF11 | c.2361C>A (p.Asn787Lys) c.*879C>A (n.*879C>A) c.2154C>A (p.Asn718Lys) c.*335C>A (n.*335C>A) | |
| 10 | g.92645456C>G | CA377594058 | KIF11 | c.2361C>G (p.Asn787Lys) c.*879C>G (n.*879C>G) c.2154C>G (p.Asn718Lys) c.*335C>G (n.*335C>G) | |
| 10 | g.92645456C>T | CA470982737 | KIF11 | c.2361C>T (p.Asn787=) c.*879C>T (n.*879C>T) c.2154C>T (p.Asn718=) c.*335C>T (n.*335C>T) | gnomAD v4 |
| 10 | g.92645457C>A | CA377594059 | KIF11 | c.2362C>A (p.Gln788Lys) c.*880C>A (n.*880C>A) c.2155C>A (p.Gln719Lys) c.*336C>A (n.*336C>A) | |
| 10 | g.92645457C>G | CA377594060 | KIF11 | c.2362C>G (p.Gln788Glu) c.*880C>G (n.*880C>G) c.2155C>G (p.Gln719Glu) c.*336C>G (n.*336C>G) | |
| 10 | g.92645457C>T | CA377594061 | KIF11 | c.2362C>T (p.Gln788Ter) c.*880C>T (n.*880C>T) c.2155C>T (p.Gln719Ter) c.*336C>T (n.*336C>T) | ClinVar |
| 10 | g.92645458A>C | CA377594062 | KIF11 | c.2363A>C (p.Gln788Pro) c.*881A>C (n.*881A>C) c.2156A>C (p.Gln719Pro) c.*337A>C (n.*337A>C) | |
| 10 | g.92645458A>G | CA377594063 | KIF11 | c.2363A>G (p.Gln788Arg) c.*881A>G (n.*881A>G) c.2156A>G (p.Gln719Arg) c.*337A>G (n.*337A>G) | |
| 10 | g.92645458A>T | CA377594064 | KIF11 | c.2363A>T (p.Gln788Leu) c.*881A>T (n.*881A>T) c.2156A>T (p.Gln719Leu) c.*337A>T (n.*337A>T) | |
| 10 | g.92645459A>C | CA377594065 | KIF11 | c.2364A>C (p.Gln788His) c.*882A>C (n.*882A>C) c.2157A>C (p.Gln719His) c.*338A>C (n.*338A>C) | gnomAD v4 |
| 10 | g.92645459A>G | CA470982738 | KIF11 | c.2364A>G (p.Gln788=) c.*882A>G (n.*882A>G) c.2157A>G (p.Gln719=) c.*338A>G (n.*338A>G) | ClinVar |
| 10 | g.92645459A>T | CA377594066 | KIF11 | c.2364A>T (p.Gln788His) c.*882A>T (n.*882A>T) c.2157A>T (p.Gln719His) c.*338A>T (n.*338A>T) | |
| 10 | g.92645460G>A | CA377594069 | KIF11 | c.2365G>A (p.Glu789Lys) c.*883G>A (n.*883G>A) c.2158G>A (p.Glu720Lys) c.*339G>A (n.*339G>A) | dbSNP gnomAD v4 |
| 10 | g.92645460G>C | CA377594068 | KIF11 | c.2365G>C (p.Glu789Gln) c.*883G>C (n.*883G>C) c.2158G>C (p.Glu720Gln) c.*339G>C (n.*339G>C) | |
| 10 | g.92645460G= | CA1928269255 | KIF11 | c.2365G= (p.Glu789=) c.*883G= (n.*883G=) c.2158G= (p.Glu720=) c.*339G= (n.*339G=) | |
| 10 | g.92645460G>T | CA377594067 | KIF11 | c.2365G>T (p.Glu789Ter) c.*883G>T (n.*883G>T) c.2158G>T (p.Glu720Ter) c.*339G>T (n.*339G>T) | |
| 10 | g.92645461A>C | CA377594070 | KIF11 | c.2366A>C (p.Glu789Ala) c.*884A>C (n.*884A>C) c.2159A>C (p.Glu720Ala) c.*340A>C (n.*340A>C) | |
| 10 | g.92645461A>G | CA377594071 | KIF11 | c.2366A>G (p.Glu789Gly) c.*884A>G (n.*884A>G) c.2159A>G (p.Glu720Gly) c.*340A>G (n.*340A>G) | |
| 10 | g.92645461A>T | CA377594072 | KIF11 | c.2366A>T (p.Glu789Val) c.*884A>T (n.*884A>T) c.2159A>T (p.Glu720Val) c.*340A>T (n.*340A>T) | gnomAD v4 |
| 10 | g.92645462A>C | CA377594073 | KIF11 | c.2367A>C (p.Glu789Asp) c.*885A>C (n.*885A>C) c.2160A>C (p.Glu720Asp) c.*341A>C (n.*341A>C) | |
| 10 | g.92645462A>G | CA470982739 | KIF11 | c.2367A>G (p.Glu789=) c.*885A>G (n.*885A>G) c.2160A>G (p.Glu720=) c.*341A>G (n.*341A>G) | |
| 10 | g.92645462A>T | CA377594074 | KIF11 | c.2367A>T (p.Glu789Asp) c.*885A>T (n.*885A>T) c.2160A>T (p.Glu720Asp) c.*341A>T (n.*341A>T) | |
| 10 | g.92645463G>A | CA377594075 | KIF11 | c.2368G>A (p.Gly790Ser) c.*886G>A (n.*886G>A) c.2161G>A (p.Gly721Ser) c.*342G>A (n.*342G>A) | |
| 10 | g.92645463G>C | CA377594076 | KIF11 | c.2368G>C (p.Gly790Arg) c.*886G>C (n.*886G>C) c.2161G>C (p.Gly721Arg) c.*342G>C (n.*342G>C) | |
| 10 | g.92645463G>T | CA377594077 | KIF11 | c.2368G>T (p.Gly790Cys) c.*886G>T (n.*886G>T) c.2161G>T (p.Gly721Cys) c.*342G>T (n.*342G>T) | |
| 10 | g.92645464G>A | CA377594078 | KIF11 | c.2369G>A (p.Gly790Asp) c.*887G>A (n.*887G>A) c.2162G>A (p.Gly721Asp) c.*343G>A (n.*343G>A) | |
| 10 | g.92645464G>C | CA5604383 | KIF11 | c.2369G>C (p.Gly790Ala) c.*887G>C (n.*887G>C) c.2162G>C (p.Gly721Ala) c.*343G>C (n.*343G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.92645464G= | CA1928269256 | KIF11 | c.2369G= (p.Gly790=) c.*887G= (n.*887G=) c.2162G= (p.Gly721=) c.*343G= (n.*343G=) | |
| 10 | g.92645464G>T | CA377594079 | KIF11 | c.2369G>T (p.Gly790Val) c.*887G>T (n.*887G>T) c.2162G>T (p.Gly721Val) c.*343G>T (n.*343G>T) | |
| 10 | g.92645465T>A | CA470982742 | KIF11 | c.2370T>A (p.Gly790=) c.*888T>A (n.*888T>A) c.2163T>A (p.Gly721=) c.*344T>A (n.*344T>A) | gnomAD v4 |
| 10 | g.92645465T>C | CA470982740 | KIF11 | c.2370T>C (p.Gly790=) c.*888T>C (n.*888T>C) c.2163T>C (p.Gly721=) c.*344T>C (n.*344T>C) | |
| 10 | g.92645465T>G | CA470982741 | KIF11 | c.2370T>G (p.Gly790=) c.*888T>G (n.*888T>G) c.2163T>G (p.Gly721=) c.*344T>G (n.*344T>G) | |
| 10 | g.92645466A>C | CA377594080 | KIF11 | c.2371A>C (p.Thr791Pro) c.*889A>C (n.*889A>C) c.2164A>C (p.Thr722Pro) c.*345A>C (n.*345A>C) | |
| 10 | g.92645466A>G | CA377594081 | KIF11 | c.2371A>G (p.Thr791Ala) c.*889A>G (n.*889A>G) c.2164A>G (p.Thr722Ala) c.*345A>G (n.*345A>G) | gnomAD v4 |
| 10 | g.92645466A>T | CA377594082 | KIF11 | c.2371A>T (p.Thr791Ser) c.*889A>T (n.*889A>T) c.2164A>T (p.Thr722Ser) c.*345A>T (n.*345A>T) | |
| 10 | g.92645467C>A | CA377594083 | KIF11 | c.2372C>A (p.Thr791Lys) c.*890C>A (n.*890C>A) c.2165C>A (p.Thr722Lys) c.*346C>A (n.*346C>A) | gnomAD v4 |
| 10 | g.92645467C= | CA1928269257 | KIF11 | c.2372C= (p.Thr791=) c.*890C= (n.*890C=) c.2165C= (p.Thr722=) c.*346C= (n.*346C=) | |
| 10 | g.92645467C>G | CA377594084 | KIF11 | c.2372C>G (p.Thr791Arg) c.*890C>G (n.*890C>G) c.2165C>G (p.Thr722Arg) c.*346C>G (n.*346C>G) | ClinVar dbSNP gnomAD v4 |
| 10 | g.92645467C>T | CA5604384 | KIF11 | c.2372C>T (p.Thr791Ile) c.*890C>T (n.*890C>T) c.2165C>T (p.Thr722Ile) c.*346C>T (n.*346C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.92645468A>C | CA470982743 | KIF11 | c.2373A>C (p.Thr791=) c.*891A>C (n.*891A>C) c.2166A>C (p.Thr722=) c.*347A>C (n.*347A>C) | |
| 10 | g.92645468A>G | CA470982744 | KIF11 | c.2373A>G (p.Thr791=) c.*891A>G (n.*891A>G) c.2166A>G (p.Thr722=) c.*347A>G (n.*347A>G) | |
| 10 | g.92645468A>T | CA470982745 | KIF11 | c.2373A>T (p.Thr791=) c.*891A>T (n.*891A>T) c.2166A>T (p.Thr722=) c.*347A>T (n.*347A>T) | |
| 10 | g.92645469A= | CA1928269258 | KIF11 | c.2374A= (p.Lys792=) c.*892A= (n.*892A=) c.2167A= (p.Lys723=) c.*348A= (n.*348A=) | |
| 10 | g.92645469A>C | CA377594085 | KIF11 | c.2374A>C (p.Lys792Gln) c.*892A>C (n.*892A>C) c.2167A>C (p.Lys723Gln) c.*348A>C (n.*348A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645469A>G | CA5604385 | KIF11 | c.2374A>G (p.Lys792Glu) c.*892A>G (n.*892A>G) c.2167A>G (p.Lys723Glu) c.*348A>G (n.*348A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.92645469A>T | CA377594086 | KIF11 | c.2374A>T (p.Lys792Ter) c.*892A>T (n.*892A>T) c.2167A>T (p.Lys723Ter) c.*348A>T (n.*348A>T) | |
| 10 | g.92645470A>C | CA377594087 | KIF11 | c.2375A>C (p.Lys792Thr) c.*893A>C (n.*893A>C) c.2168A>C (p.Lys723Thr) c.*349A>C (n.*349A>C) | |
| 10 | g.92645470A>G | CA377594088 | KIF11 | c.2375A>G (p.Lys792Arg) c.*893A>G (n.*893A>G) c.2168A>G (p.Lys723Arg) c.*349A>G (n.*349A>G) | |
| 10 | g.92645470A>T | CA377594089 | KIF11 | c.2375A>T (p.Lys792Ile) c.*893A>T (n.*893A>T) c.2168A>T (p.Lys723Ile) c.*349A>T (n.*349A>T) | |
| 10 | g.92645471A>C | CA377594090 | KIF11 | c.2376A>C (p.Lys792Asn) c.*894A>C (n.*894A>C) c.2169A>C (p.Lys723Asn) c.*350A>C (n.*350A>C) | |
| 10 | g.92645471A>G | CA470982746 | KIF11 | c.2376A>G (p.Lys792=) c.*894A>G (n.*894A>G) c.2169A>G (p.Lys723=) c.*350A>G (n.*350A>G) | |
| 10 | g.92645471A>T | CA377594091 | KIF11 | c.2376A>T (p.Lys792Asn) c.*894A>T (n.*894A>T) c.2169A>T (p.Lys723Asn) c.*350A>T (n.*350A>T) | |
| 10 | g.92645472T>A | CA377594092 | KIF11 | c.2377T>A (p.Leu793Met) c.*895T>A (n.*895T>A) c.2170T>A (p.Leu724Met) c.*351T>A (n.*351T>A) | |
| 10 | g.92645472T>C | CA470982747 | KIF11 | c.2377T>C (p.Leu793=) c.*895T>C (n.*895T>C) c.2170T>C (p.Leu724=) c.*351T>C (n.*351T>C) | |
| 10 | g.92645472T>G | CA377594093 | KIF11 | c.2377T>G (p.Leu793Val) c.*895T>G (n.*895T>G) c.2170T>G (p.Leu724Val) c.*351T>G (n.*351T>G) | |
| 10 | g.92645473T>A | CA377594094 | KIF11 | c.2378T>A (p.Leu793Ter) c.*896T>A (n.*896T>A) c.2171T>A (p.Leu724Ter) c.*352T>A (n.*352T>A) | |
| 10 | g.92645473T>C | CA377594095 | KIF11 | c.2378T>C (p.Leu793Ser) c.*896T>C (n.*896T>C) c.2171T>C (p.Leu724Ser) c.*352T>C (n.*352T>C) | |
| 10 | g.92645473T>G | CA377594096 | KIF11 | c.2378T>G (p.Leu793Trp) c.*896T>G (n.*896T>G) c.2171T>G (p.Leu724Trp) c.*352T>G (n.*352T>G) | |
| 10 | g.92645474G>A | CA470982748 | KIF11 | c.2379G>A (p.Leu793=) c.*897G>A (n.*897G>A) c.2172G>A (p.Leu724=) c.*353G>A (n.*353G>A) | |
| 10 | g.92645474G>C | CA377594098 | KIF11 | c.2379G>C (p.Leu793Phe) c.*897G>C (n.*897G>C) c.2172G>C (p.Leu724Phe) c.*353G>C (n.*353G>C) | |
| 10 | g.92645474G>T | CA377594097 | KIF11 | c.2379G>T (p.Leu793Phe) c.*897G>T (n.*897G>T) c.2172G>T (p.Leu724Phe) c.*353G>T (n.*353G>T) | |
| 10 | g.92645475G>A | CA5604386 | KIF11 | c.2380G>A (p.Val794Ile) c.*898G>A (n.*898G>A) c.2173G>A (p.Val725Ile) c.*354G>A (n.*354G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.92645475G>C | CA377594099 | KIF11 | c.2380G>C (p.Val794Leu) c.*898G>C (n.*898G>C) c.2173G>C (p.Val725Leu) c.*354G>C (n.*354G>C) | dbSNP |
| 10 | g.92645475G= | CA1928269259 | KIF11 | c.2380G= (p.Val794=) c.*898G= (n.*898G=) c.2173G= (p.Val725=) c.*354G= (n.*354G=) | |
| 10 | g.92645475G>T | CA377594100 | KIF11 | c.2380G>T (p.Val794Phe) c.*898G>T (n.*898G>T) c.2173G>T (p.Val725Phe) c.*354G>T (n.*354G>T) | |
| 10 | g.92645476T>A | CA377594101 | KIF11 | c.2381T>A (p.Val794Asp) c.*899T>A (n.*899T>A) c.2174T>A (p.Val725Asp) c.*355T>A (n.*355T>A) | |
| 10 | g.92645476T>C | CA377594102 | KIF11 | c.2381T>C (p.Val794Ala) c.*899T>C (n.*899T>C) c.2174T>C (p.Val725Ala) c.*355T>C (n.*355T>C) | |
| 10 | g.92645476T>G | CA377594103 | KIF11 | c.2381T>G (p.Val794Gly) c.*899T>G (n.*899T>G) c.2174T>G (p.Val725Gly) c.*355T>G (n.*355T>G) | |
| 10 | g.92645477T>A | CA5604387 | KIF11 | c.2382T>A (p.Val794=) c.*900T>A (n.*900T>A) c.2175T>A (p.Val725=) c.*356T>A (n.*356T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.92645477T>C | CA470982749 | KIF11 | c.2382T>C (p.Val794=) c.*900T>C (n.*900T>C) c.2175T>C (p.Val725=) c.*356T>C (n.*356T>C) | |
| 10 | g.92645477T>G | CA470982750 | KIF11 | c.2382T>G (p.Val794=) c.*900T>G (n.*900T>G) c.2175T>G (p.Val725=) c.*356T>G (n.*356T>G) | gnomAD v4 |
| 10 | g.92645477T= | CA1928269260 | KIF11 | c.2382T= (p.Val794=) c.*900T= (n.*900T=) c.2175T= (p.Val725=) c.*356T= (n.*356T=) | |
| 10 | g.92645478G>A | CA5604388 | KIF11 | c.2383G>A (p.Glu795Lys) c.*901G>A (n.*901G>A) c.2176G>A (p.Glu726Lys) c.*357G>A (n.*357G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.92645478G>C | CA377594104 | KIF11 | c.2383G>C (p.Glu795Gln) c.*901G>C (n.*901G>C) c.2176G>C (p.Glu726Gln) c.*357G>C (n.*357G>C) | |
| 10 | g.92645478G= | CA1928269261 | KIF11 | c.2383G= (p.Glu795=) c.*901G= (n.*901G=) c.2176G= (p.Glu726=) c.*357G= (n.*357G=) | |
| 10 | g.92645478G>T | CA377594105 | KIF11 | c.2383G>T (p.Glu795Ter) c.*901G>T (n.*901G>T) c.2176G>T (p.Glu726Ter) c.*357G>T (n.*357G>T) | |
| 10 | g.92645479A>C | CA377594106 | KIF11 | c.2384A>C (p.Glu795Ala) c.*902A>C (n.*902A>C) c.2177A>C (p.Glu726Ala) c.*358A>C (n.*358A>C) | gnomAD v4 |
| 10 | g.92645479A>G | CA377594107 | KIF11 | c.2384A>G (p.Glu795Gly) c.*902A>G (n.*902A>G) c.2177A>G (p.Glu726Gly) c.*358A>G (n.*358A>G) | |
| 10 | g.92645479A>T | CA377594108 | KIF11 | c.2384A>T (p.Glu795Val) c.*902A>T (n.*902A>T) c.2177A>T (p.Glu726Val) c.*358A>T (n.*358A>T) | |
| 10 | g.92645480A>C | CA377594110 | KIF11 | c.2385A>C (p.Glu795Asp) c.*903A>C (n.*903A>C) c.2178A>C (p.Glu726Asp) c.*359A>C (n.*359A>C) | |
| 10 | g.92645480A>G | CA470982751 | KIF11 | c.2385A>G (p.Glu795=) c.*903A>G (n.*903A>G) c.2178A>G (p.Glu726=) c.*359A>G (n.*359A>G) | |
| 10 | g.92645480A>T | CA377594109 | KIF11 | c.2385A>T (p.Glu795Asp) c.*903A>T (n.*903A>T) c.2178A>T (p.Glu726Asp) c.*359A>T (n.*359A>T) | |
| 10 | g.92645481G>A | CA377594111 | KIF11 | c.2386G>A (p.Glu796Lys) c.*904G>A (n.*904G>A) c.2179G>A (p.Glu727Lys) c.*360G>A (n.*360G>A) | |
| 10 | g.92645481G>C | CA377594112 | KIF11 | c.2386G>C (p.Glu796Gln) c.*904G>C (n.*904G>C) c.2179G>C (p.Glu727Gln) c.*360G>C (n.*360G>C) | |
| 10 | g.92645481G>T | CA377594113 | KIF11 | c.2386G>T (p.Glu796Ter) c.*904G>T (n.*904G>T) c.2179G>T (p.Glu727Ter) c.*360G>T (n.*360G>T) | COSMIC |
| 10 | g.92645482A>C | CA377594114 | KIF11 | c.2387A>C (p.Glu796Ala) c.*905A>C (n.*905A>C) c.2180A>C (p.Glu727Ala) c.*361A>C (n.*361A>C) | |
| 10 | g.92645482A>G | CA377594115 | KIF11 | c.2387A>G (p.Glu796Gly) c.*905A>G (n.*905A>G) c.2180A>G (p.Glu727Gly) c.*361A>G (n.*361A>G) | |
| 10 | g.92645482A>T | CA377594116 | KIF11 | c.2387A>T (p.Glu796Val) c.*905A>T (n.*905A>T) c.2180A>T (p.Glu727Val) c.*361A>T (n.*361A>T) | gnomAD v4 |
| 10 | g.92645483A>C | CA377594117 | KIF11 | c.2388A>C (p.Glu796Asp) c.*906A>C (n.*906A>C) c.2181A>C (p.Glu727Asp) c.*362A>C (n.*362A>C) | |
| 10 | g.92645483A>G | CA470982752 | KIF11 | c.2388A>G (p.Glu796=) c.*906A>G (n.*906A>G) c.2181A>G (p.Glu727=) c.*362A>G (n.*362A>G) | |
| 10 | g.92645483A>T | CA377594118 | KIF11 | c.2388A>T (p.Glu796Asp) c.*906A>T (n.*906A>T) c.2181A>T (p.Glu727Asp) c.*362A>T (n.*362A>T) | |
| 10 | g.92645484T>A | CA377594119 | KIF11 | c.2389T>A (p.Ser797Thr) c.*907T>A (n.*907T>A) c.2182T>A (p.Ser728Thr) c.*363T>A (n.*363T>A) | |
| 10 | g.92645484T>C | CA377594121 | KIF11 | c.2389T>C (p.Ser797Pro) c.*907T>C (n.*907T>C) c.2182T>C (p.Ser728Pro) c.*363T>C (n.*363T>C) | |
| 10 | g.92645484T>G | CA377594120 | KIF11 | c.2389T>G (p.Ser797Ala) c.*907T>G (n.*907T>G) c.2182T>G (p.Ser728Ala) c.*363T>G (n.*363T>G) | |
| 10 | g.92645485C>A | CA377594122 | KIF11 | c.2390C>A (p.Ser797Tyr) c.*908C>A (n.*908C>A) c.2183C>A (p.Ser728Tyr) c.*364C>A (n.*364C>A) | |
| 10 | g.92645485C>G | CA377594123 | KIF11 | c.2390C>G (p.Ser797Cys) c.*908C>G (n.*908C>G) c.2183C>G (p.Ser728Cys) c.*364C>G (n.*364C>G) | |
| 10 | g.92645485C>T | CA377594124 | KIF11 | c.2390C>T (p.Ser797Phe) c.*908C>T (n.*908C>T) c.2183C>T (p.Ser728Phe) c.*364C>T (n.*364C>T) | COSMIC |
| 10 | g.92645486T>A | CA470982754 | KIF11 | c.2391T>A (p.Ser797=) c.*909T>A (n.*909T>A) c.2184T>A (p.Ser728=) c.*365T>A (n.*365T>A) | |
| 10 | g.92645486T>C | CA5604389 | KIF11 | c.2391T>C (p.Ser797=) c.*909T>C (n.*909T>C) c.2184T>C (p.Ser728=) c.*365T>C (n.*365T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.92645486T>G | CA470982753 | KIF11 | c.2391T>G (p.Ser797=) c.*909T>G (n.*909T>G) c.2184T>G (p.Ser728=) c.*365T>G (n.*365T>G) | |
| 10 | g.92645486T= | CA1928269262 | KIF11 | c.2391T= (p.Ser797=) c.*909T= (n.*909T=) c.2184T= (p.Ser728=) c.*365T= (n.*365T=) | |
| 10 | g.92645487G>A | CA377594127 | KIF11 | c.2392G>A (p.Val798Met) c.*910G>A (n.*910G>A) c.2185G>A (p.Val729Met) c.*366G>A (n.*366G>A) | |
| 10 | g.92645487G>C | CA377594125 | KIF11 | c.2392G>C (p.Val798Leu) c.*910G>C (n.*910G>C) c.2185G>C (p.Val729Leu) c.*366G>C (n.*366G>C) | ClinVar |
| 10 | g.92645487G>T | CA377594126 | KIF11 | c.2392G>T (p.Val798Leu) c.*910G>T (n.*910G>T) c.2185G>T (p.Val729Leu) c.*366G>T (n.*366G>T) | |
| 10 | g.92645488T>A | CA377594128 | KIF11 | c.2393T>A (p.Val798Glu) c.*911T>A (n.*911T>A) c.2186T>A (p.Val729Glu) c.*367T>A (n.*367T>A) | |
| 10 | g.92645488T>C | CA377594129 | KIF11 | c.2393T>C (p.Val798Ala) c.*911T>C (n.*911T>C) c.2186T>C (p.Val729Ala) c.*367T>C (n.*367T>C) | |
| 10 | g.92645488T>G | CA377594130 | KIF11 | c.2393T>G (p.Val798Gly) c.*911T>G (n.*911T>G) c.2186T>G (p.Val729Gly) c.*367T>G (n.*367T>G) | |
| 10 | g.92645489G>A | CA470982755 | KIF11 | c.2394G>A (p.Val798=) c.*912G>A (n.*912G>A) c.2187G>A (p.Val729=) c.*368G>A (n.*368G>A) | |
| 10 | g.92645489G>C | CA470982756 | KIF11 | c.2394G>C (p.Val798=) c.*912G>C (n.*912G>C) c.2187G>C (p.Val729=) c.*368G>C (n.*368G>C) | |
| 10 | g.92645489G>T | CA470982757 | KIF11 | c.2394G>T (p.Val798=) c.*912G>T (n.*912G>T) c.2187G>T (p.Val729=) c.*368G>T (n.*368G>T) | |
| 10 | g.92645490A>C | CA377594131 | KIF11 | c.2395A>C (p.Lys799Gln) c.*913A>C (n.*913A>C) c.2188A>C (p.Lys730Gln) c.*369A>C (n.*369A>C) | gnomAD v4 |
| 10 | g.92645490A>G | CA377594132 | KIF11 | c.2395A>G (p.Lys799Glu) c.*913A>G (n.*913A>G) c.2188A>G (p.Lys730Glu) c.*369A>G (n.*369A>G) | ClinVar dbSNP gnomAD v4 |
| 10 | g.92645490A>T | CA377594133 | KIF11 | c.2395A>T (p.Lys799Ter) c.*913A>T (n.*913A>T) c.2188A>T (p.Lys730Ter) c.*369A>T (n.*369A>T) | |
| 10 | g.92645491A= | CA1928269263 | KIF11 | c.2396A= (p.Lys799=) c.*914A= (n.*914A=) c.2189A= (p.Lys730=) c.*370A= (n.*370A=) | |
| 10 | g.92645491A>C | CA377594136 | KIF11 | c.2396A>C (p.Lys799Thr) c.*914A>C (n.*914A>C) c.2189A>C (p.Lys730Thr) c.*370A>C (n.*370A>C) | |
| 10 | g.92645491A>G | CA377594134 | KIF11 | c.2396A>G (p.Lys799Arg) c.*914A>G (n.*914A>G) c.2189A>G (p.Lys730Arg) c.*370A>G (n.*370A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645491A>T | CA377594135 | KIF11 | c.2396A>T (p.Lys799Ile) c.*914A>T (n.*914A>T) c.2189A>T (p.Lys730Ile) c.*370A>T (n.*370A>T) | |
| 10 | g.92645492A>C | CA377594137 | KIF11 | c.2397A>C (p.Lys799Asn) c.*915A>C (n.*915A>C) c.2190A>C (p.Lys730Asn) c.*371A>C (n.*371A>C) | |
| 10 | g.92645492A>G | CA470982758 | KIF11 | c.2397A>G (p.Lys799=) c.*915A>G (n.*915A>G) c.2190A>G (p.Lys730=) c.*371A>G (n.*371A>G) | gnomAD v4 |
| 10 | g.92645492A>T | CA377594138 | KIF11 | c.2397A>T (p.Lys799Asn) c.*915A>T (n.*915A>T) c.2190A>T (p.Lys730Asn) c.*371A>T (n.*371A>T) | |
| 10 | g.92645493C>A | CA377594139 | KIF11 | c.2398C>A (p.His800Asn) c.*916C>A (n.*916C>A) c.2191C>A (p.His731Asn) c.*372C>A (n.*372C>A) | |
| 10 | g.92645493C>G | CA377594140 | KIF11 | c.2398C>G (p.His800Asp) c.*916C>G (n.*916C>G) c.2191C>G (p.His731Asp) c.*372C>G (n.*372C>G) | |
| 10 | g.92645493C>T | CA377594141 | KIF11 | c.2398C>T (p.His800Tyr) c.*916C>T (n.*916C>T) c.2191C>T (p.His731Tyr) c.*372C>T (n.*372C>T) | COSMIC |
| 10 | g.92645494A>C | CA377594142 | KIF11 | c.2399A>C (p.His800Pro) c.*917A>C (n.*917A>C) c.2192A>C (p.His731Pro) c.*373A>C (n.*373A>C) | |
| 10 | g.92645494A>G | CA377594144 | KIF11 | c.2399A>G (p.His800Arg) c.*917A>G (n.*917A>G) c.2192A>G (p.His731Arg) c.*373A>G (n.*373A>G) | gnomAD v4 |
| 10 | g.92645494A>T | CA377594143 | KIF11 | c.2399A>T (p.His800Leu) c.*917A>T (n.*917A>T) c.2192A>T (p.His731Leu) c.*373A>T (n.*373A>T) | |
| 10 | g.92645495C>A | CA377594145 | KIF11 | c.2400C>A (p.His800Gln) c.*918C>A (n.*918C>A) c.2193C>A (p.His731Gln) c.*374C>A (n.*374C>A) | gnomAD v4 |
| 10 | g.92645495C>G | CA377594146 | KIF11 | c.2400C>G (p.His800Gln) c.*918C>G (n.*918C>G) c.2193C>G (p.His731Gln) c.*374C>G (n.*374C>G) | |
| 10 | g.92645495C>T | CA470982759 | KIF11 | c.2400C>T (p.His800=) c.*918C>T (n.*918C>T) c.2193C>T (p.His731=) c.*374C>T (n.*374C>T) | |
| 10 | g.92645497_92645498del | CA2580615578 | KIF11 | c.2402_2403del (p.Ser801Ter) c.*920_*921del (n.*920_*921del) c.2195_2196del (p.Ser732Ter) c.*376_*377del (n.*376_*377del) | ClinVar dbSNP |
| 10 | g.92645496T>A | CA377594147 | KIF11 | c.2401T>A (p.Ser801Thr) c.*919T>A (n.*919T>A) c.2194T>A (p.Ser732Thr) c.*375T>A (n.*375T>A) | |
| 10 | g.92645496T>C | CA377594148 | KIF11 | c.2401T>C (p.Ser801Pro) c.*919T>C (n.*919T>C) c.2194T>C (p.Ser732Pro) c.*375T>C (n.*375T>C) | |
| 10 | g.92645496T>G | CA377594149 | KIF11 | c.2401T>G (p.Ser801Ala) c.*919T>G (n.*919T>G) c.2194T>G (p.Ser732Ala) c.*375T>G (n.*375T>G) | |
| 10 | g.92645497C>A | CA377594150 | KIF11 | c.2402C>A (p.Ser801Tyr) c.*920C>A (n.*920C>A) c.2195C>A (p.Ser732Tyr) c.*376C>A (n.*376C>A) | |
| 10 | g.92645497C>G | CA377594151 | KIF11 | c.2402C>G (p.Ser801Cys) c.*920C>G (n.*920C>G) c.2195C>G (p.Ser732Cys) c.*376C>G (n.*376C>G) | |
| 10 | g.92645497C>T | CA377594152 | KIF11 | c.2402C>T (p.Ser801Phe) c.*920C>T (n.*920C>T) c.2195C>T (p.Ser732Phe) c.*376C>T (n.*376C>T) | gnomAD v4 |
| 10 | g.92645498T>A | CA470982760 | KIF11 | c.2403T>A (p.Ser801=) c.*921T>A (n.*921T>A) c.2196T>A (p.Ser732=) c.*377T>A (n.*377T>A) | |
| 10 | g.92645498T>C | CA470982761 | KIF11 | c.2403T>C (p.Ser801=) c.*921T>C (n.*921T>C) c.2196T>C (p.Ser732=) c.*377T>C (n.*377T>C) | |
| 10 | g.92645498T>G | CA470982762 | KIF11 | c.2403T>G (p.Ser801=) c.*921T>G (n.*921T>G) c.2196T>G (p.Ser732=) c.*377T>G (n.*377T>G) | gnomAD v4 |
| 10 | g.92645499G>A | CA377594153 | KIF11 | c.2404G>A (p.Asp802Asn) c.*922G>A (n.*922G>A) c.2197G>A (p.Asp733Asn) c.*378G>A (n.*378G>A) | COSMIC |
| 10 | g.92645499G>C | CA377594154 | KIF11 | c.2404G>C (p.Asp802His) c.*922G>C (n.*922G>C) c.2197G>C (p.Asp733His) c.*378G>C (n.*378G>C) | |
| 10 | g.92645499G>T | CA377594155 | KIF11 | c.2404G>T (p.Asp802Tyr) c.*922G>T (n.*922G>T) c.2197G>T (p.Asp733Tyr) c.*378G>T (n.*378G>T) | |
| 10 | g.92645500A= | CA1928269264 | KIF11 | c.2405A= (p.Asp802=) c.*923A= (n.*923A=) c.2198A= (p.Asp733=) c.*379A= (n.*379A=) | |
| 10 | g.92645500A>C | CA377594156 | KIF11 | c.2405A>C (p.Asp802Ala) c.*923A>C (n.*923A>C) c.2198A>C (p.Asp733Ala) c.*379A>C (n.*379A>C) | |
| 10 | g.92645500A>G | CA377594157 | KIF11 | c.2405A>G (p.Asp802Gly) c.*923A>G (n.*923A>G) c.2198A>G (p.Asp733Gly) c.*379A>G (n.*379A>G) | |
| 10 | g.92645500A>T | CA5604390 | KIF11 | c.2405A>T (p.Asp802Val) c.*923A>T (n.*923A>T) c.2198A>T (p.Asp733Val) c.*379A>T (n.*379A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.92645501T>A | CA377594158 | KIF11 | c.2406T>A (p.Asp802Glu) c.*924T>A (n.*924T>A) c.2199T>A (p.Asp733Glu) c.*380T>A (n.*380T>A) | |
| 10 | g.92645501T>C | CA470982763 | KIF11 | c.2406T>C (p.Asp802=) c.*924T>C (n.*924T>C) c.2199T>C (p.Asp733=) c.*380T>C (n.*380T>C) | |
| 10 | g.92645501T>G | CA377594159 | KIF11 | c.2406T>G (p.Asp802Glu) c.*924T>G (n.*924T>G) c.2199T>G (p.Asp733Glu) c.*380T>G (n.*380T>G) | |
| 10 | g.92645502A= | CA1928269265 | KIF11 | c.2407A= (p.Lys803=) c.*925A= (n.*925A=) c.2200A= (p.Lys734=) c.*381A= (n.*381A=) | |
| 10 | g.92645502A>C | CA377594160 | KIF11 | c.2407A>C (p.Lys803Gln) c.*925A>C (n.*925A>C) c.2200A>C (p.Lys734Gln) c.*381A>C (n.*381A>C) | dbSNP |
| 10 | g.92645502A>G | CA377594161 | KIF11 | c.2407A>G (p.Lys803Glu) c.*925A>G (n.*925A>G) c.2200A>G (p.Lys734Glu) c.*381A>G (n.*381A>G) | |
| 10 | g.92645502A>T | CA377594162 | KIF11 | c.2407A>T (p.Lys803Ter) c.*925A>T (n.*925A>T) c.2200A>T (p.Lys734Ter) c.*381A>T (n.*381A>T) | |
| 10 | g.92645503A>C | CA377594163 | KIF11 | c.2408A>C (p.Lys803Thr) c.*926A>C (n.*926A>C) c.2201A>C (p.Lys734Thr) c.*382A>C (n.*382A>C) | |
| 10 | g.92645503A>G | CA377594164 | KIF11 | c.2408A>G (p.Lys803Arg) c.*926A>G (n.*926A>G) c.2201A>G (p.Lys734Arg) c.*382A>G (n.*382A>G) | |
| 10 | g.92645503A>T | CA377594165 | KIF11 | c.2408A>T (p.Lys803Ile) c.*926A>T (n.*926A>T) c.2201A>T (p.Lys734Ile) c.*382A>T (n.*382A>T) | |
| 10 | g.92645504A= | CA1928269266 | KIF11 | c.2409A= (p.Lys803=) c.*927A= (n.*927A=) c.2202A= (p.Lys734=) c.*383A= (n.*383A=) | |
| 10 | g.92645504A>C | CA377594166 | KIF11 | c.2409A>C (p.Lys803Asn) c.*927A>C (n.*927A>C) c.2202A>C (p.Lys734Asn) c.*383A>C (n.*383A>C) | |
| 10 | g.92645504A>G | CA5604391 | KIF11 | c.2409A>G (p.Lys803=) c.*927A>G (n.*927A>G) c.2202A>G (p.Lys734=) c.*383A>G (n.*383A>G) | dbSNP ExAC gnomAD v4 |
| 10 | g.92645504A>T | CA377594167 | KIF11 | c.2409A>T (p.Lys803Asn) c.*927A>T (n.*927A>T) c.2202A>T (p.Lys734Asn) c.*383A>T (n.*383A>T) | |
| 10 | g.92645505C>A | CA377594168 | KIF11 | c.2410C>A (p.Leu804Ile) c.*928C>A (n.*928C>A) c.2203C>A (p.Leu735Ile) c.*384C>A (n.*384C>A) | |
| 10 | g.92645505C= | CA1928269267 | KIF11 | c.2410C= (p.Leu804=) c.*928C= (n.*928C=) c.2203C= (p.Leu735=) c.*384C= (n.*384C=) | |
| 10 | g.92645505C>G | CA377594169 | KIF11 | c.2410C>G (p.Leu804Val) c.*928C>G (n.*928C>G) c.2203C>G (p.Leu735Val) c.*384C>G (n.*384C>G) | |
| 10 | g.92645505C>T | CA377594170 | KIF11 | c.2410C>T (p.Leu804Phe) c.*928C>T (n.*928C>T) c.2203C>T (p.Leu735Phe) c.*384C>T (n.*384C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645506T>A | CA377594173 | KIF11 | c.2411T>A (p.Leu804His) c.*929T>A (n.*929T>A) c.2204T>A (p.Leu735His) c.*385T>A (n.*385T>A) | |
| 10 | g.92645506T>C | CA377594171 | KIF11 | c.2411T>C (p.Leu804Pro) c.*929T>C (n.*929T>C) c.2204T>C (p.Leu735Pro) c.*385T>C (n.*385T>C) | |
| 10 | g.92645506T>G | CA377594172 | KIF11 | c.2411T>G (p.Leu804Arg) c.*929T>G (n.*929T>G) c.2204T>G (p.Leu735Arg) c.*385T>G (n.*385T>G) | |
| 10 | g.92645507C>A | CA470982764 | KIF11 | c.2412C>A (p.Leu804=) c.*930C>A (n.*930C>A) c.2205C>A (p.Leu735=) c.*386C>A (n.*386C>A) | gnomAD v4 |
| 10 | g.92645507C= | CA1928269268 | KIF11 | c.2412C= (p.Leu804=) c.*930C= (n.*930C=) c.2205C= (p.Leu735=) c.*386C= (n.*386C=) | |
| 10 | g.92645507C>G | CA470982765 | KIF11 | c.2412C>G (p.Leu804=) c.*930C>G (n.*930C>G) c.2205C>G (p.Leu735=) c.*386C>G (n.*386C>G) | |
| 10 | g.92645507C>T | CA5604392 | KIF11 | c.2412C>T (p.Leu804=) c.*930C>T (n.*930C>T) c.2205C>T (p.Leu735=) c.*386C>T (n.*386C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.92645508A>C | CA377594176 | KIF11 | c.2413A>C (p.Asn805His) c.*931A>C (n.*931A>C) c.2206A>C (p.Asn736His) c.*387A>C (n.*387A>C) | |
| 10 | g.92645508A>G | CA377594174 | KIF11 | c.2413A>G (p.Asn805Asp) c.*931A>G (n.*931A>G) c.2206A>G (p.Asn736Asp) c.*387A>G (n.*387A>G) | |
| 10 | g.92645508A>T | CA377594175 | KIF11 | c.2413A>T (p.Asn805Tyr) c.*931A>T (n.*931A>T) c.2206A>T (p.Asn736Tyr) c.*387A>T (n.*387A>T) | |
| 10 | g.92645509A= | CA1928269269 | KIF11 | c.2414A= (p.Asn805=) c.*932A= (n.*932A=) c.2207A= (p.Asn736=) c.*388A= (n.*388A=) | |
| 10 | g.92645509A>C | CA377594177 | KIF11 | c.2414A>C (p.Asn805Thr) c.*932A>C (n.*932A>C) c.2207A>C (p.Asn736Thr) c.*388A>C (n.*388A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645509A>G | CA5604393 | KIF11 | c.2414A>G (p.Asn805Ser) c.*932A>G (n.*932A>G) c.2207A>G (p.Asn736Ser) c.*388A>G (n.*388A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.92645509A>T | CA377594178 | KIF11 | c.2414A>T (p.Asn805Ile) c.*932A>T (n.*932A>T) c.2207A>T (p.Asn736Ile) c.*388A>T (n.*388A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.92645510T>A | CA377594179 | KIF11 | c.2415T>A (p.Asn805Lys) c.*933T>A (n.*933T>A) c.2208T>A (p.Asn736Lys) c.*389T>A (n.*389T>A) | |
| 10 | g.92645510T>C | CA211516026 | KIF11 | c.2415T>C (p.Asn805=) c.*933T>C (n.*933T>C) c.2208T>C (p.Asn736=) c.*389T>C (n.*389T>C) | ClinVar dbSNP |
| 10 | g.92645510T>G | CA377594180 | KIF11 | c.2415T>G (p.Asn805Lys) c.*933T>G (n.*933T>G) c.2208T>G (p.Asn736Lys) c.*389T>G (n.*389T>G) | |
| 10 | g.92645510T= | CA1928269270 | KIF11 | c.2415T= (p.Asn805=) c.*933T= (n.*933T=) c.2208T= (p.Asn736=) c.*389T= (n.*389T=) | |
| 10 | g.92645511G>A | CA377594181 | KIF11 | c.2416G>A (p.Gly806Ser) c.*934G>A (n.*934G>A) c.2209G>A (p.Gly737Ser) c.*390G>A (n.*390G>A) | gnomAD v4 |
| 10 | g.92645511G>C | CA377594182 | KIF11 | c.2416G>C (p.Gly806Arg) c.*934G>C (n.*934G>C) c.2209G>C (p.Gly737Arg) c.*390G>C (n.*390G>C) | |
| 10 | g.92645511G>T | CA377594183 | KIF11 | c.2416G>T (p.Gly806Cys) c.*934G>T (n.*934G>T) c.2209G>T (p.Gly737Cys) c.*390G>T (n.*390G>T) | |
| 10 | g.92645512G>A | CA377594186 | KIF11 | c.2417G>A (p.Gly806Asp) c.*935G>A (n.*935G>A) c.2210G>A (p.Gly737Asp) c.*391G>A (n.*391G>A) | |
| 10 | g.92645512G>C | CA377594185 | KIF11 | c.2417G>C (p.Gly806Ala) c.*935G>C (n.*935G>C) c.2210G>C (p.Gly737Ala) c.*391G>C (n.*391G>C) | |
| 10 | g.92645512G>T | CA377594184 | KIF11 | c.2417G>T (p.Gly806Val) c.*935G>T (n.*935G>T) c.2210G>T (p.Gly737Val) c.*391G>T (n.*391G>T) | |
| 10 | g.92645513C>A | CA5604394 | KIF11 | c.2418C>A (p.Gly806=) c.*936C>A (n.*936C>A) c.2211C>A (p.Gly737=) c.*392C>A (n.*392C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.92645513C= | CA1928269271 | KIF11 | c.2418C= (p.Gly806=) c.*936C= (n.*936C=) c.2211C= (p.Gly737=) c.*392C= (n.*392C=) | |
| 10 | g.92645513C>G | CA470982766 | KIF11 | c.2418C>G (p.Gly806=) c.*936C>G (n.*936C>G) c.2211C>G (p.Gly737=) c.*392C>G (n.*392C>G) | |
| 10 | g.92645513C>T | CA211516030 | KIF11 | c.2418C>T (p.Gly806=) c.*936C>T (n.*936C>T) c.2211C>T (p.Gly737=) c.*392C>T (n.*392C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.92645514A>C | CA377594187 | KIF11 | c.2419A>C (p.Asn807His) c.*937A>C (n.*937A>C) c.2212A>C (p.Asn738His) c.*393A>C (n.*393A>C) | |
| 10 | g.92645514A>G | CA377594188 | KIF11 | c.2419A>G (p.Asn807Asp) c.*937A>G (n.*937A>G) c.2212A>G (p.Asn738Asp) c.*393A>G (n.*393A>G) | |
| 10 | g.92645514A>T | CA377594189 | KIF11 | c.2419A>T (p.Asn807Tyr) c.*937A>T (n.*937A>T) c.2212A>T (p.Asn738Tyr) c.*393A>T (n.*393A>T) | |
| 10 | g.92645515A>C | CA377594190 | KIF11 | c.2420A>C (p.Asn807Thr) c.*938A>C (n.*938A>C) c.2213A>C (p.Asn738Thr) c.*394A>C (n.*394A>C) | |
| 10 | g.92645515A>G | CA377594191 | KIF11 | c.2420A>G (p.Asn807Ser) c.*938A>G (n.*938A>G) c.2213A>G (p.Asn738Ser) c.*394A>G (n.*394A>G) | gnomAD v4 |
| 10 | g.92645515A>T | CA377594192 | KIF11 | c.2420A>T (p.Asn807Ile) c.*938A>T (n.*938A>T) c.2213A>T (p.Asn738Ile) c.*394A>T (n.*394A>T) | |
| 10 | g.92645516C>A | CA377594193 | KIF11 | c.2421C>A (p.Asn807Lys) c.*939C>A (n.*939C>A) c.2214C>A (p.Asn738Lys) c.*395C>A (n.*395C>A) | |
| 10 | g.92645516C= | CA1928269272 | KIF11 | c.2421C= (p.Asn807=) c.*939C= (n.*939C=) c.2214C= (p.Asn738=) c.*395C= (n.*395C=) | |
| 10 | g.92645516C>G | CA377594194 | KIF11 | c.2421C>G (p.Asn807Lys) c.*939C>G (n.*939C>G) c.2214C>G (p.Asn738Lys) c.*395C>G (n.*395C>G) | |
| 10 | g.92645516C>T | CA211516032 | KIF11 | c.2421C>T (p.Asn807=) c.*939C>T (n.*939C>T) c.2214C>T (p.Asn738=) c.*395C>T (n.*395C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645517C>A | CA377594195 | KIF11 | c.2422C>A (p.Leu808Met) c.*940C>A (n.*940C>A) c.2215C>A (p.Leu739Met) c.*396C>A (n.*396C>A) | |
| 10 | g.92645517C>G | CA377594196 | KIF11 | c.2422C>G (p.Leu808Val) c.*940C>G (n.*940C>G) c.2215C>G (p.Leu739Val) c.*396C>G (n.*396C>G) | |
| 10 | g.92645517C>T | CA470982767 | KIF11 | c.2422C>T (p.Leu808=) c.*940C>T (n.*940C>T) c.2215C>T (p.Leu739=) c.*396C>T (n.*396C>T) | gnomAD v4 |
| 10 | g.92645518T>A | CA377594199 | KIF11 | c.2423T>A (p.Leu808Gln) c.*941T>A (n.*941T>A) c.2216T>A (p.Leu739Gln) c.*397T>A (n.*397T>A) | |
| 10 | g.92645518T>C | CA377594198 | KIF11 | c.2423T>C (p.Leu808Pro) c.*941T>C (n.*941T>C) c.2216T>C (p.Leu739Pro) c.*397T>C (n.*397T>C) | |
| 10 | g.92645518T>G | CA377594197 | KIF11 | c.2423T>G (p.Leu808Arg) c.*941T>G (n.*941T>G) c.2216T>G (p.Leu739Arg) c.*397T>G (n.*397T>G) | |
| 10 | g.92645519G>A | CA470982768 | KIF11 | c.2424G>A (p.Leu808=) c.*942G>A (n.*942G>A) c.2217G>A (p.Leu739=) c.*398G>A (n.*398G>A) | |
| 10 | g.92645519G>C | CA470982769 | KIF11 | c.2424G>C (p.Leu808=) c.*942G>C (n.*942G>C) c.2217G>C (p.Leu739=) c.*398G>C (n.*398G>C) | |
| 10 | g.92645519G>T | CA470982770 | KIF11 | c.2424G>T (p.Leu808=) c.*942G>T (n.*942G>T) c.2217G>T (p.Leu739=) c.*398G>T (n.*398G>T) | |
| 10 | g.92645520G>A | CA377594202 | KIF11 | c.2425G>A (p.Glu809Lys) c.*943G>A (n.*943G>A) c.2218G>A (p.Glu740Lys) c.*399G>A (n.*399G>A) | gnomAD v4 |
| 10 | g.92645520G>C | CA377594200 | KIF11 | c.2425G>C (p.Glu809Gln) c.*943G>C (n.*943G>C) c.2218G>C (p.Glu740Gln) c.*399G>C (n.*399G>C) | gnomAD v4 |
| 10 | g.92645520G>T | CA377594201 | KIF11 | c.2425G>T (p.Glu809Ter) c.*943G>T (n.*943G>T) c.2218G>T (p.Glu740Ter) c.*399G>T (n.*399G>T) | |
| 10 | g.92645521A= | CA1928269273 | KIF11 | c.2426A= (p.Glu809=) c.*944A= (n.*944A=) c.2219A= (p.Glu740=) c.*400A= (n.*400A=) | |
| 10 | g.92645521A>C | CA377594203 | KIF11 | c.2426A>C (p.Glu809Ala) c.*944A>C (n.*944A>C) c.2219A>C (p.Glu740Ala) c.*400A>C (n.*400A>C) | |
| 10 | g.92645521A>G | CA377594204 | KIF11 | c.2426A>G (p.Glu809Gly) c.*944A>G (n.*944A>G) c.2219A>G (p.Glu740Gly) c.*400A>G (n.*400A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.92645521A>T | CA377594205 | KIF11 | c.2426A>T (p.Glu809Val) c.*944A>T (n.*944A>T) c.2219A>T (p.Glu740Val) c.*400A>T (n.*400A>T) | |
| 10 | g.92645522A>C | CA377594206 | KIF11 | c.2427A>C (p.Glu809Asp) c.*945A>C (n.*945A>C) c.2220A>C (p.Glu740Asp) c.*401A>C (n.*401A>C) | |
| 10 | g.92645522A>G | CA470982771 | KIF11 | c.2427A>G (p.Glu809=) c.*945A>G (n.*945A>G) c.2220A>G (p.Glu740=) c.*401A>G (n.*401A>G) | |
| 10 | g.92645522A>T | CA377594207 | KIF11 | c.2427A>T (p.Glu809Asp) c.*945A>T (n.*945A>T) c.2220A>T (p.Glu740Asp) c.*401A>T (n.*401A>T) | |
| 10 | g.92645523A>C | CA377594208 | KIF11 | c.2428A>C (p.Lys810Gln) c.*946A>C (n.*946A>C) c.2221A>C (p.Lys741Gln) c.*402A>C (n.*402A>C) | |
| 10 | g.92645523A>G | CA377594209 | KIF11 | c.2428A>G (p.Lys810Glu) c.*946A>G (n.*946A>G) c.2221A>G (p.Lys741Glu) c.*402A>G (n.*402A>G) | |
| 10 | g.92645523A>T | CA377594210 | KIF11 | c.2428A>T (p.Lys810Ter) c.*946A>T (n.*946A>T) c.2221A>T (p.Lys741Ter) c.*402A>T (n.*402A>T) | |
| 10 | g.92645524A>C | CA377594211 | KIF11 | c.2429A>C (p.Lys810Thr) c.*947A>C (n.*947A>C) c.2222A>C (p.Lys741Thr) c.*403A>C (n.*403A>C) | |
| 10 | g.92645524A>G | CA377594212 | KIF11 | c.2429A>G (p.Lys810Arg) c.*947A>G (n.*947A>G) c.2222A>G (p.Lys741Arg) c.*403A>G (n.*403A>G) | |
| 10 | g.92645524A>T | CA377594213 | KIF11 | c.2429A>T (p.Lys810Ile) c.*947A>T (n.*947A>T) c.2222A>T (p.Lys741Ile) c.*403A>T (n.*403A>T) | |
| 10 | g.92645525A>C | CA377594215 | KIF11 | c.2430A>C (p.Lys810Asn) c.*948A>C (n.*948A>C) c.2223A>C (p.Lys741Asn) c.*404A>C (n.*404A>C) | |
| 10 | g.92645525A>G | CA470982772 | KIF11 | c.2430A>G (p.Lys810=) c.*948A>G (n.*948A>G) c.2223A>G (p.Lys741=) c.*404A>G (n.*404A>G) | |
| 10 | g.92645525A>T | CA377594214 | KIF11 | c.2430A>T (p.Lys810Asn) c.*948A>T (n.*948A>T) c.2223A>T (p.Lys741Asn) c.*404A>T (n.*404A>T) | |
| 10 | g.92645526A= | CA1928269274 | KIF11 | c.2431A= (p.Ile811=) c.*949A= (n.*949A=) c.2224A= (p.Ile742=) c.*405A= (n.*405A=) | |
| 10 | g.92645526A>C | CA377594216 | KIF11 | c.2431A>C (p.Ile811Leu) c.*949A>C (n.*949A>C) c.2224A>C (p.Ile742Leu) c.*405A>C (n.*405A>C) | |
| 10 | g.92645526A>G | CA377594217 | KIF11 | c.2431A>G (p.Ile811Val) c.*949A>G (n.*949A>G) c.2224A>G (p.Ile742Val) c.*405A>G (n.*405A>G) | dbSNP gnomAD v4 |
| 10 | g.92645526A>T | CA377594218 | KIF11 | c.2431A>T (p.Ile811Leu) c.*949A>T (n.*949A>T) c.2224A>T (p.Ile742Leu) c.*405A>T (n.*405A>T) | |
| 10 | g.92645527T>A | CA377594219 | KIF11 | c.2432T>A (p.Ile811Lys) c.*950T>A (n.*950T>A) c.2225T>A (p.Ile742Lys) c.*406T>A (n.*406T>A) | |
| 10 | g.92645527T>C | CA377594220 | KIF11 | c.2432T>C (p.Ile811Thr) c.*950T>C (n.*950T>C) c.2225T>C (p.Ile742Thr) c.*406T>C (n.*406T>C) | |
| 10 | g.92645527T>G | CA377594221 | KIF11 | c.2432T>G (p.Ile811Arg) c.*950T>G (n.*950T>G) c.2225T>G (p.Ile742Arg) c.*406T>G (n.*406T>G) | |
| 10 | g.92645527_92645532delinsTATCTC | CA1928269275 | KIF11 | c.2432_2437delinsTATCTC (p.Ile811=) c.*950_*955delinsTATCTC (n.*950_*955delinsTATCTC) c.2225_2230delinsTATCTC (p.Ile742=) c.*406_*411delinsTATCTC (n.*406_*411delinsTATCTC) | |
| 10 | g.92645528A>C | CA470982773 | KIF11 | c.2433A>C (p.Ile811=) c.*951A>C (n.*951A>C) c.2226A>C (p.Ile742=) c.*407A>C (n.*407A>C) | |
| 10 | g.92645528A>G | CA377594222 | KIF11 | c.2433A>G (p.Ile811Met) c.*951A>G (n.*951A>G) c.2226A>G (p.Ile742Met) c.*407A>G (n.*407A>G) | |
| 10 | g.92645528A>T | CA470982774 | KIF11 | c.2433A>T (p.Ile811=) c.*951A>T (n.*951A>T) c.2226A>T (p.Ile742=) c.*407A>T (n.*407A>T) | |
| 10 | g.92645529_92645533del | CA916083156 | KIF11 | c.2434_2438del (p.Ser812ArgfsTer3) c.*952_*956del (n.*952_*956del) c.2227_2231del (p.Ser743ArgfsTer3) c.*408_*412del (n.*408_*412del) | ClinVar dbSNP |
| 10 | g.92645529T>A | CA377594223 | KIF11 | c.2434T>A (p.Ser812Thr) c.*952T>A (n.*952T>A) c.2227T>A (p.Ser743Thr) c.*408T>A (n.*408T>A) | |
| 10 | g.92645529T>C | CA377594224 | KIF11 | c.2434T>C (p.Ser812Pro) c.*952T>C (n.*952T>C) c.2227T>C (p.Ser743Pro) c.*408T>C (n.*408T>C) | |
| 10 | g.92645529T>G | CA377594225 | KIF11 | c.2434T>G (p.Ser812Ala) c.*952T>G (n.*952T>G) c.2227T>G (p.Ser743Ala) c.*408T>G (n.*408T>G) | ClinVar dbSNP |
| 10 | g.92645530C>A | CA377594226 | KIF11 | c.2435C>A (p.Ser812Tyr) c.*953C>A (n.*953C>A) c.2228C>A (p.Ser743Tyr) c.*409C>A (n.*409C>A) | |
| 10 | g.92645530C= | CA1928269276 | KIF11 | c.2435C= (p.Ser812=) c.*953C= (n.*953C=) c.2228C= (p.Ser743=) c.*409C= (n.*409C=) | |
| 10 | g.92645530C>G | CA377594227 | KIF11 | c.2435C>G (p.Ser812Cys) c.*953C>G (n.*953C>G) c.2228C>G (p.Ser743Cys) c.*409C>G (n.*409C>G) | |
| 10 | g.92645530C>T | CA5604395 | KIF11 | c.2435C>T (p.Ser812Phe) c.*953C>T (n.*953C>T) c.2228C>T (p.Ser743Phe) c.*409C>T (n.*409C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.92645531T>A | CA470982775 | KIF11 | c.2436T>A (p.Ser812=) c.*954T>A (n.*954T>A) c.2229T>A (p.Ser743=) c.*410T>A (n.*410T>A) | gnomAD v4 |
| 10 | g.92645531T>C | CA470982776 | KIF11 | c.2436T>C (p.Ser812=) c.*954T>C (n.*954T>C) c.2229T>C (p.Ser743=) c.*410T>C (n.*410T>C) | |
| 10 | g.92645531T>G | CA470982777 | KIF11 | c.2436T>G (p.Ser812=) c.*954T>G (n.*954T>G) c.2229T>G (p.Ser743=) c.*410T>G (n.*410T>G) | |
| 10 | g.92645532C>A | CA377594229 | KIF11 | c.2437C>A (p.Gln813Lys) c.*955C>A (n.*955C>A) c.2230C>A (p.Gln744Lys) c.*411C>A (n.*411C>A) | |
| 10 | g.92645532C>G | CA377594230 | KIF11 | c.2437C>G (p.Gln813Glu) c.*955C>G (n.*955C>G) c.2230C>G (p.Gln744Glu) c.*411C>G (n.*411C>G) | gnomAD v4 |
| 10 | g.92645532C>T | CA377594228 | KIF11 | c.2437C>T (p.Gln813Ter) c.*955C>T (n.*955C>T) c.2230C>T (p.Gln744Ter) c.*411C>T (n.*411C>T) | |
| 10 | g.92645533A>C | CA377594231 | KIF11 | c.2438A>C (p.Gln813Pro) c.*956A>C (n.*956A>C) c.2231A>C (p.Gln744Pro) c.*412A>C (n.*412A>C) | gnomAD v4 |
| 10 | g.92645533A>G | CA377594233 | KIF11 | c.2438A>G (p.Gln813Arg) c.*956A>G (n.*956A>G) c.2231A>G (p.Gln744Arg) c.*412A>G (n.*412A>G) | |
| 10 | g.92645533A>T | CA377594232 | KIF11 | c.2438A>T (p.Gln813Leu) c.*956A>T (n.*956A>T) c.2231A>T (p.Gln744Leu) c.*412A>T (n.*412A>T) | |
| 10 | g.92645534A>C | CA377594234 | KIF11 | c.2439A>C (p.Gln813His) c.*957A>C (n.*957A>C) c.2232A>C (p.Gln744His) c.*413A>C (n.*413A>C) | |
| 10 | g.92645534A>G | CA470982778 | KIF11 | c.2439A>G (p.Gln813=) c.*957A>G (n.*957A>G) c.2232A>G (p.Gln744=) c.*413A>G (n.*413A>G) | |
| 10 | g.92645534A>T | CA377594235 | KIF11 | c.2439A>T (p.Gln813His) c.*957A>T (n.*957A>T) c.2232A>T (p.Gln744His) c.*413A>T (n.*413A>T) | |
| 10 | g.92645535G>A | CA377594236 | KIF11 | c.2440G>A (p.Glu814Lys) c.*958G>A (n.*958G>A) c.2233G>A (p.Glu745Lys) c.*414G>A (n.*414G>A) | |
| 10 | g.92645535G>C | CA377594237 | KIF11 | c.2440G>C (p.Glu814Gln) c.*958G>C (n.*958G>C) c.2233G>C (p.Glu745Gln) c.*414G>C (n.*414G>C) | |
| 10 | g.92645535G>T | CA377594238 | KIF11 | c.2440G>T (p.Glu814Ter) c.*958G>T (n.*958G>T) c.2233G>T (p.Glu745Ter) c.*414G>T (n.*414G>T) | ClinVar |
| 10 | g.92645536del | CA2499220499 | KIF11 | c.2441del (p.Glu814GlyfsTer9) c.*959del (n.*959del) c.2234del (p.Glu745GlyfsTer9) c.*415del (n.*415del) | ClinVar dbSNP |
| 10 | g.92645536A= | CA1928269277 | KIF11 | c.2441A= (p.Glu814=) c.*959A= (n.*959A=) c.2234A= (p.Glu745=) c.*415A= (n.*415A=) | |
| 10 | g.92645536A>C | CA377594239 | KIF11 | c.2441A>C (p.Glu814Ala) c.*959A>C (n.*959A>C) c.2234A>C (p.Glu745Ala) c.*415A>C (n.*415A>C) | |
| 10 | g.92645536A>G | CA377594240 | KIF11 | c.2441A>G (p.Glu814Gly) c.*959A>G (n.*959A>G) c.2234A>G (p.Glu745Gly) c.*415A>G (n.*415A>G) | dbSNP gnomAD v2 |
| 10 | g.92645536A>T | CA211516038 | KIF11 | c.2441A>T (p.Glu814Val) c.*959A>T (n.*959A>T) c.2234A>T (p.Glu745Val) c.*415A>T (n.*415A>T) | dbSNP gnomAD v4 |
| 10 | g.92645536_92645537insTTCTT | CA2573145841 | KIF11 | c.2441_2442insTTCTT (p.Glu814AspfsTer3) c.*959_*960insTTCTT (n.*959_*960insTTCTT) c.2234_2235insTTCTT (p.Glu745AspfsTer3) c.*415_*416insTTCTT (n.*415_*416insTTCTT) | ClinVar dbSNP |
| 10 | g.92645537G>A | CA470982779 | KIF11 | c.2442G>A (p.Glu814=) c.*960G>A (n.*960G>A) c.2235G>A (p.Glu745=) c.*416G>A (n.*416G>A) | |
| 10 | g.92645537G>C | CA377594241 | KIF11 | c.2442G>C (p.Glu814Asp) c.*960G>C (n.*960G>C) c.2235G>C (p.Glu745Asp) c.*416G>C (n.*416G>C) | gnomAD v4 COSMIC |
| 10 | g.92645537G>T | CA377594242 | KIF11 | c.2442G>T (p.Glu814Asp) c.*960G>T (n.*960G>T) c.2235G>T (p.Glu745Asp) c.*416G>T (n.*416G>T) | |
| 10 | g.92645538A>C | CA377594243 | KIF11 | c.2443A>C (p.Thr815Pro) c.*961A>C (n.*961A>C) c.2236A>C (p.Thr746Pro) c.*417A>C (n.*417A>C) | |
| 10 | g.92645538A>G | CA377594244 | KIF11 | c.2443A>G (p.Thr815Ala) c.*961A>G (n.*961A>G) c.2236A>G (p.Thr746Ala) c.*417A>G (n.*417A>G) | gnomAD v4 |
| 10 | g.92645538A>T | CA377594245 | KIF11 | c.2443A>T (p.Thr815Ser) c.*961A>T (n.*961A>T) c.2236A>T (p.Thr746Ser) c.*417A>T (n.*417A>T) | |
| 10 | g.92645539C>A | CA377594248 | KIF11 | c.2444C>A (p.Thr815Asn) c.*962C>A (n.*962C>A) c.2237C>A (p.Thr746Asn) c.*418C>A (n.*418C>A) | |
| 10 | g.92645539C>G | CA377594246 | KIF11 | c.2444C>G (p.Thr815Ser) c.*962C>G (n.*962C>G) c.2237C>G (p.Thr746Ser) c.*418C>G (n.*418C>G) | |
| 10 | g.92645539C>T | CA377594247 | KIF11 | c.2444C>T (p.Thr815Ile) c.*962C>T (n.*962C>T) c.2237C>T (p.Thr746Ile) c.*418C>T (n.*418C>T) | |
| 10 | g.92645540T>A | CA5604396 | KIF11 | c.2445T>A (p.Thr815=) c.*963T>A (n.*963T>A) c.2238T>A (p.Thr746=) c.*419T>A (n.*419T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.92645540T>C | CA470982780 | KIF11 | c.2445T>C (p.Thr815=) c.*963T>C (n.*963T>C) c.2238T>C (p.Thr746=) c.*419T>C (n.*419T>C) | |
| 10 | g.92645540T>G | CA5604397 | KIF11 | c.2445T>G (p.Thr815=) c.*963T>G (n.*963T>G) c.2238T>G (p.Thr746=) c.*419T>G (n.*419T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.92645540T= | CA1928269278 | KIF11 | c.2445T= (p.Thr815=) c.*963T= (n.*963T=) c.2238T= (p.Thr746=) c.*419T= (n.*419T=) | |
| 10 | g.92645541G>A | CA377594249 | KIF11 | c.2446G>A (p.Glu816Lys) c.*964G>A (n.*964G>A) c.2239G>A (p.Glu747Lys) c.*420G>A (n.*420G>A) | |
| 10 | g.92645541G>C | CA377594250 | KIF11 | c.2446G>C (p.Glu816Gln) c.*964G>C (n.*964G>C) c.2239G>C (p.Glu747Gln) c.*420G>C (n.*420G>C) | |
| 10 | g.92645541G>T | CA377594251 | KIF11 | c.2446G>T (p.Glu816Ter) c.*964G>T (n.*964G>T) c.2239G>T (p.Glu747Ter) c.*420G>T (n.*420G>T) | |
| 10 | g.92645542A>C | CA377594252 | KIF11 | c.2447A>C (p.Glu816Ala) c.*965A>C (n.*965A>C) c.2240A>C (p.Glu747Ala) c.*421A>C (n.*421A>C) | |
| 10 | g.92645542A>G | CA377594253 | KIF11 | c.2447A>G (p.Glu816Gly) c.*965A>G (n.*965A>G) c.2240A>G (p.Glu747Gly) c.*421A>G (n.*421A>G) | |
| 10 | g.92645542A>T | CA377594254 | KIF11 | c.2447A>T (p.Glu816Val) c.*965A>T (n.*965A>T) c.2240A>T (p.Glu747Val) c.*421A>T (n.*421A>T) |