Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.92645436C>A | CA377594008 | KIF11 | c.2341C>A (p.Gln781Lys) c.*859C>A (n.*859C>A) c.2134C>A (p.Gln712Lys) c.*315C>A (n.*315C>A) | |
10 | g.92645436C= | CA1928269248 | KIF11 | c.2341C= (p.Gln781=) c.*859C= (n.*859C=) c.2134C= (p.Gln712=) c.*315C= (n.*315C=) | |
10 | g.92645436C>G | CA377594009 | KIF11 | c.2341C>G (p.Gln781Glu) c.*859C>G (n.*859C>G) c.2134C>G (p.Gln712Glu) c.*315C>G (n.*315C>G) | ClinVar gnomAD v4 COSMIC |
10 | g.92645436C>T | CA10654918 | KIF11 | c.2341C>T (p.Gln781Ter) c.*859C>T (n.*859C>T) c.2134C>T (p.Gln712Ter) c.*315C>T (n.*315C>T) | ClinVar dbSNP |
10 | g.92645437A= | CA1928269249 | KIF11 | c.2342A= (p.Gln781=) c.*860A= (n.*860A=) c.2135A= (p.Gln712=) c.*316A= (n.*316A=) | |
10 | g.92645437A>C | CA377594011 | KIF11 | c.2342A>C (p.Gln781Pro) c.*860A>C (n.*860A>C) c.2135A>C (p.Gln712Pro) c.*316A>C (n.*316A>C) | |
10 | g.92645437A>G | CA211516007 | KIF11 | c.2342A>G (p.Gln781Arg) c.*860A>G (n.*860A>G) c.2135A>G (p.Gln712Arg) c.*316A>G (n.*316A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.92645437A>T | CA377594010 | KIF11 | c.2342A>T (p.Gln781Leu) c.*860A>T (n.*860A>T) c.2135A>T (p.Gln712Leu) c.*316A>T (n.*316A>T) | |
10 | g.92645437_92645438delinsAG | CA1928269250 | KIF11 | c.2342_2343delinsAG (p.Gln781=) c.*860_*861delinsAG (n.*860_*861delinsAG) c.2135_2136delinsAG (p.Gln712=) c.*316_*317delinsAG (n.*316_*317delinsAG) | |
10 | g.92645438G>A | CA470982728 | KIF11 | c.2343G>A (p.Gln781=) c.*861G>A (n.*861G>A) c.2136G>A (p.Gln712=) c.*317G>A (n.*317G>A) | ClinVar dbSNP |
10 | g.92645438G>C | CA377594012 | KIF11 | c.2343G>C (p.Gln781His) c.*861G>C (n.*861G>C) c.2136G>C (p.Gln712His) c.*317G>C (n.*317G>C) | |
10 | g.92645438G>T | CA377594013 | KIF11 | c.2343G>T (p.Gln781His) c.*861G>T (n.*861G>T) c.2136G>T (p.Gln712His) c.*317G>T (n.*317G>T) | |
10 | g.92645439del | CA931239589 | KIF11 | c.2344del (p.Glu782AsnfsTer17) c.*862del (n.*862del) c.2137del (p.Glu713AsnfsTer17) c.*318del (n.*318del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.92645439G>A | CA377594014 | KIF11 | c.2344G>A (p.Glu782Lys) c.*862G>A (n.*862G>A) c.2137G>A (p.Glu713Lys) c.*318G>A (n.*318G>A) | |
10 | g.92645439G>C | CA377594015 | KIF11 | c.2344G>C (p.Glu782Gln) c.*862G>C (n.*862G>C) c.2137G>C (p.Glu713Gln) c.*318G>C (n.*318G>C) | |
10 | g.92645439G>T | CA377594016 | KIF11 | c.2344G>T (p.Glu782Ter) c.*862G>T (n.*862G>T) c.2137G>T (p.Glu713Ter) c.*318G>T (n.*318G>T) | |
10 | g.92645440A>C | CA377594017 | KIF11 | c.2345A>C (p.Glu782Ala) c.*863A>C (n.*863A>C) c.2138A>C (p.Glu713Ala) c.*319A>C (n.*319A>C) | |
10 | g.92645440A>G | CA377594018 | KIF11 | c.2345A>G (p.Glu782Gly) c.*863A>G (n.*863A>G) c.2138A>G (p.Glu713Gly) c.*319A>G (n.*319A>G) | |
10 | g.92645440A>T | CA377594019 | KIF11 | c.2345A>T (p.Glu782Val) c.*863A>T (n.*863A>T) c.2138A>T (p.Glu713Val) c.*319A>T (n.*319A>T) | |
10 | g.92645441A>C | CA377594020 | KIF11 | c.2346A>C (p.Glu782Asp) c.*864A>C (n.*864A>C) c.2139A>C (p.Glu713Asp) c.*320A>C (n.*320A>C) | gnomAD v4 |
10 | g.92645441A>G | CA470982729 | KIF11 | c.2346A>G (p.Glu782=) c.*864A>G (n.*864A>G) c.2139A>G (p.Glu713=) c.*320A>G (n.*320A>G) | |
10 | g.92645441A>T | CA377594021 | KIF11 | c.2346A>T (p.Glu782Asp) c.*864A>T (n.*864A>T) c.2139A>T (p.Glu713Asp) c.*320A>T (n.*320A>T) | |
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) |