Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43416947G>ACA410606562SIK1c.2147C>T (p.Thr716Ile)
c.2000C>T (p.Thr667Ile)
21g.43416947G>CCA410606563SIK1c.2147C>G (p.Thr716Ser)
c.2000C>G (p.Thr667Ser)
21g.43416947G>TCA410606564SIK1c.2147C>A (p.Thr716Asn)
c.2000C>A (p.Thr667Asn)
21g.43416948T>ACA410606565SIK1c.2146A>T (p.Thr716Ser)
c.1999A>T (p.Thr667Ser)
21g.43416948T>CCA410606566SIK1c.2146A>G (p.Thr716Ala)
c.1999A>G (p.Thr667Ala)
21g.43416948T>GCA410606567SIK1c.2146A>C (p.Thr716Pro)
c.1999A>C (p.Thr667Pro)
21g.43416949C>ACA410606568SIK1c.2145G>T (p.Gln715His)
c.1998G>T (p.Gln666His)
21g.43416949C>GCA410606569SIK1c.2145G>C (p.Gln715His)
c.1998G>C (p.Gln666His)
21g.43416950T>ACA410606570SIK1c.2144A>T (p.Gln715Leu)
c.1997A>T (p.Gln666Leu)
21g.43416950T>CCA410606571SIK1c.2144A>G (p.Gln715Arg)
c.1997A>G (p.Gln666Arg)
dbSNP gnomAD v3 gnomAD v4
21g.43416950T>GCA410606572SIK1c.2144A>C (p.Gln715Pro)
c.1997A>C (p.Gln666Pro)
21g.43416950T=CA2391216257SIK1c.2144A= (p.Gln715=)
c.1997A= (p.Gln666=)
21g.43416951G>ACA410606574SIK1c.2143C>T (p.Gln715Ter)
c.1996C>T (p.Gln666Ter)
21g.43416951G>CCA410606575SIK1c.2143C>G (p.Gln715Glu)
c.1996C>G (p.Gln666Glu)
21g.43416951G>TCA410606573SIK1c.2143C>A (p.Gln715Lys)
c.1996C>A (p.Gln666Lys)
21g.43416952C=CA2391216258SIK1c.2142G= (p.Leu714=)
c.1995G= (p.Leu665=)
21g.43416952C>GCA2844420417SIK1c.2142G>C (p.Leu714=)
c.1995G>C (p.Leu665=)
21g.43416952C>TCA321324422SIK1c.2142G>A (p.Leu714=)
c.1995G>A (p.Leu665=)
ClinVar dbSNP
21g.43416953A>CCA410606576SIK1c.2141T>G (p.Leu714Arg)
c.1994T>G (p.Leu665Arg)
21g.43416953A>GCA410606578SIK1c.2141T>C (p.Leu714Pro)
c.1994T>C (p.Leu665Pro)
21g.43416953A>TCA410606577SIK1c.2141T>A (p.Leu714Gln)
c.1994T>A (p.Leu665Gln)
21g.43416954G>CCA410606579SIK1c.2140C>G (p.Leu714Val)
c.1993C>G (p.Leu665Val)
21g.43416954G>TCA410606580SIK1c.2140C>A (p.Leu714Met)
c.1993C>A (p.Leu665Met)
21g.43416955G>ACA749584844SIK1c.2139C>T (p.Leu713=)
c.1992C>T (p.Leu664=)
ClinVar dbSNP
21g.43416955G=CA2391216259SIK1c.2139C= (p.Leu713=)
c.1992C= (p.Leu664=)
21g.43416956A=CA2391216260SIK1c.2138T= (p.Leu713=)
c.1991T= (p.Leu664=)
21g.43416956A>CCA410606581SIK1c.2138T>G (p.Leu713Arg)
c.1991T>G (p.Leu664Arg)
dbSNP
21g.43416956A>GCA410606582SIK1c.2138T>C (p.Leu713Pro)
c.1991T>C (p.Leu664Pro)
21g.43416956A>TCA410606583SIK1c.2138T>A (p.Leu713His)
c.1991T>A (p.Leu664His)
21g.43416957G>ACA410606586SIK1c.2137C>T (p.Leu713Phe)
c.1990C>T (p.Leu664Phe)
21g.43416957G>CCA410606585SIK1c.2137C>G (p.Leu713Val)
c.1990C>G (p.Leu664Val)
ClinVar dbSNP
21g.43416957G>TCA410606584SIK1c.2137C>A (p.Leu713Ile)
c.1990C>A (p.Leu664Ile)
21g.43416958T>GCA1022641482SIK1c.2136A>C (p.Pro712=)
c.1989A>C (p.Pro663=)
gnomAD v3 gnomAD v4
21g.43416959G>ACA410606587SIK1c.2135C>T (p.Pro712Leu)
c.1988C>T (p.Pro663Leu)
dbSNP
21g.43416959G>CCA410606588SIK1c.2135C>G (p.Pro712Arg)
c.1988C>G (p.Pro663Arg)
21g.43416959G=CA2391216261SIK1c.2135C= (p.Pro712=)
c.1988C= (p.Pro663=)
21g.43416959G>TCA410606589SIK1c.2135C>A (p.Pro712Gln)
c.1988C>A (p.Pro663Gln)
ClinVar
21g.43416960G>ACA321324426SIK1c.2134C>T (p.Pro712Ser)
c.1987C>T (p.Pro663Ser)
dbSNP
21g.43416960G>CCA410606590SIK1c.2134C>G (p.Pro712Ala)
c.1987C>G (p.Pro663Ala)
21g.43416960G=CA2391216262SIK1c.2134C= (p.Pro712=)
c.1987C= (p.Pro663=)
21g.43416960G>TCA410606591SIK1c.2134C>A (p.Pro712Thr)
c.1987C>A (p.Pro663Thr)
21g.43416961G>CCA2573157449SIK1c.2133C>G (p.Pro711=)
c.1986C>G (p.Pro662=)
ClinVar dbSNP
21g.43416962G>ACA410606592SIK1c.2132C>T (p.Pro711Leu)
c.1985C>T (p.Pro662Leu)
21g.43416962G>CCA410606594SIK1c.2132C>G (p.Pro711Arg)
c.1985C>G (p.Pro662Arg)
ClinVar dbSNP
21g.43416962G=CA2391216263SIK1c.2132C= (p.Pro711=)
c.1985C= (p.Pro662=)
21g.43416962G>TCA410606593SIK1c.2132C>A (p.Pro711His)
c.1985C>A (p.Pro662His)
21g.43416962_43416963insCCA2818014408SIK1c.2131_2132insG (p.Pro711ArgfsTer?)
c.1984_1985insG (p.Pro662ArgfsTer?)
21g.43416963G>ACA410606595SIK1c.2131C>T (p.Pro711Ser)
c.1984C>T (p.Pro662Ser)
21g.43416963G>CCA410606596SIK1c.2131C>G (p.Pro711Ala)
c.1984C>G (p.Pro662Ala)
21g.43416963G>TCA410606597SIK1c.2131C>A (p.Pro711Thr)
c.1984C>A (p.Pro662Thr)
21g.43416964C=CA2391216264SIK1c.2130G= (p.Pro710=)
c.1983G= (p.Pro661=)
21g.43416964C>TCA749584854SIK1c.2130G>A (p.Pro710=)
c.1983G>A (p.Pro661=)
ClinVar dbSNP gnomAD v4
21g.43416965G>ACA410606598SIK1c.2129C>T (p.Pro710Leu)
c.1982C>T (p.Pro661Leu)
ClinVar dbSNP COSMIC
21g.43416965G>CCA410606599SIK1c.2129C>G (p.Pro710Arg)
c.1982C>G (p.Pro661Arg)
21g.43416965G=CA2391216265SIK1c.2129C= (p.Pro710=)
c.1982C= (p.Pro661=)
21g.43416965G>TCA410606600SIK1c.2129C>A (p.Pro710Gln)
c.1982C>A (p.Pro661Gln)
21g.43416966G>ACA410606601SIK1c.2128C>T (p.Pro710Ser)
c.1981C>T (p.Pro661Ser)
21g.43416966G>CCA410606602SIK1c.2128C>G (p.Pro710Ala)
c.1981C>G (p.Pro661Ala)
21g.43416966G>TCA410606603SIK1c.2128C>A (p.Pro710Thr)
c.1981C>A (p.Pro661Thr)
gnomAD v4
21g.43416967C=CA2391216266SIK1c.2127G= (p.Leu709=)
c.1980G= (p.Leu660=)
21g.43416967C>TCA749584859SIK1c.2127G>A (p.Leu709=)
c.1980G>A (p.Leu660=)
ClinVar dbSNP
21g.43416968A=CA2391216267SIK1c.2126T= (p.Leu709=)
c.1979T= (p.Leu660=)
21g.43416968A>CCA410606604SIK1c.2126T>G (p.Leu709Arg)
c.1979T>G (p.Leu660Arg)
21g.43416968A>GCA321324439SIK1c.2126T>C (p.Leu709Pro)
c.1979T>C (p.Leu660Pro)
ClinVar dbSNP
21g.43416968A>TCA410606605SIK1c.2126T>A (p.Leu709Gln)
c.1979T>A (p.Leu660Gln)
21g.43416969G>ACA749584864SIK1c.2125C>T (p.Leu709=)
c.1978C>T (p.Leu660=)
dbSNP
21g.43416969G>CCA410606606SIK1c.2125C>G (p.Leu709Val)
c.1978C>G (p.Leu660Val)
21g.43416969G=CA2391216268SIK1c.2125C= (p.Leu709=)
c.1978C= (p.Leu660=)
21g.43416969G>TCA410606607SIK1c.2125C>A (p.Leu709Met)
c.1978C>A (p.Leu660Met)
21g.43416971A>CCA410606608SIK1c.2123T>G (p.Leu708Arg)
c.1976T>G (p.Leu659Arg)
21g.43416971A>GCA410606609SIK1c.2123T>C (p.Leu708Pro)
c.1976T>C (p.Leu659Pro)
ClinVar
21g.43416971A>TCA410606610SIK1c.2123T>A (p.Leu708Gln)
c.1976T>A (p.Leu659Gln)
21g.43416972G>CCA410606611SIK1c.2122C>G (p.Leu708Val)
c.1975C>G (p.Leu659Val)
21g.43416972G>TCA410606612SIK1c.2122C>A (p.Leu708Met)
c.1975C>A (p.Leu659Met)
21g.43416973C=CA2391216269SIK1c.2121G= (p.Pro707=)
c.1974G= (p.Pro658=)
21g.43416973C>TCA321324447SIK1c.2121G>A (p.Pro707=)
c.1974G>A (p.Pro658=)
ClinVar dbSNP gnomAD v4
21g.43416974G>ACA321324450SIK1c.2120C>T (p.Pro707Leu)
c.1973C>T (p.Pro658Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43416974G>CCA410606613SIK1c.2120C>G (p.Pro707Arg)
c.1973C>G (p.Pro658Arg)
21g.43416974G=CA2391216270SIK1c.2120C= (p.Pro707=)
c.1973C= (p.Pro658=)
21g.43416974G>TCA410606614SIK1c.2120C>A (p.Pro707Gln)
c.1973C>A (p.Pro658Gln)
21g.43416975G>ACA410606615SIK1c.2119C>T (p.Pro707Ser)
c.1972C>T (p.Pro658Ser)
21g.43416975G>CCA410606616SIK1c.2119C>G (p.Pro707Ala)
c.1972C>G (p.Pro658Ala)
21g.43416975G>TCA410606617SIK1c.2119C>A (p.Pro707Thr)
c.1972C>A (p.Pro658Thr)
21g.43416976G>ACA321324454SIK1c.2118C>T (p.Leu706=)
c.1971C>T (p.Leu657=)
ClinVar dbSNP
21g.43416976G>CCA2391216271SIK1c.2118C>G (p.Leu706=)
c.1971C>G (p.Leu657=)
dbSNP
21g.43416976G=CA2391216272SIK1c.2118C= (p.Leu706=)
c.1971C= (p.Leu657=)
21g.43416976G>TCA645601763SIK1c.2118C>A (p.Leu706=)
c.1971C>A (p.Leu657=)
dbSNP COSMIC
21g.43416977A>CCA410606619SIK1c.2117T>G (p.Leu706Arg)
c.1970T>G (p.Leu657Arg)
21g.43416977A>GCA410606620SIK1c.2117T>C (p.Leu706Pro)
c.1970T>C (p.Leu657Pro)
21g.43416977A>TCA410606618SIK1c.2117T>A (p.Leu706His)
c.1970T>A (p.Leu657His)
ClinVar
21g.43416978G>ACA410606621SIK1c.2116C>T (p.Leu706Phe)
c.1969C>T (p.Leu657Phe)
21g.43416978G>CCA410606622SIK1c.2116C>G (p.Leu706Val)
c.1969C>G (p.Leu657Val)
21g.43416978G>TCA410606623SIK1c.2116C>A (p.Leu706Ile)
c.1969C>A (p.Leu657Ile)
21g.43416979C>TCA2580098759SIK1c.2115G>A (p.Gly705=)
c.1968G>A (p.Gly656=)
ClinVar
21g.43416980C>ACA410606624SIK1c.2114G>T (p.Gly705Val)
c.1967G>T (p.Gly656Val)
21g.43416980C=CA2391216273SIK1c.2114G= (p.Gly705=)
c.1967G= (p.Gly656=)
21g.43416980C>GCA410606625SIK1c.2114G>C (p.Gly705Ala)
c.1967G>C (p.Gly656Ala)
21g.43416980C>TCA410606626SIK1c.2114G>A (p.Gly705Glu)
c.1967G>A (p.Gly656Glu)
ClinVar dbSNP
21g.43416981C>ACA410606627SIK1c.2113G>T (p.Gly705Trp)
c.1966G>T (p.Gly656Trp)
21g.43416981C>GCA410606629SIK1c.2113G>C (p.Gly705Arg)
c.1966G>C (p.Gly656Arg)
21g.43416981C>TCA410606628SIK1c.2113G>A (p.Gly705Arg)
c.1966G>A (p.Gly656Arg)
21g.43416982C=CA2391216274SIK1c.2112G= (p.Ser704=)
c.1965G= (p.Ser655=)
21g.43416982C>GCA2573157451SIK1c.2112G>C (p.Ser704=)
c.1965G>C (p.Ser655=)
ClinVar dbSNP
21g.43416982C>TCA321324457SIK1c.2112G>A (p.Ser704=)
c.1965G>A (p.Ser655=)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43416983G>ACA410606630SIK1c.2111C>T (p.Ser704Leu)
c.1964C>T (p.Ser655Leu)
ClinVar dbSNP COSMIC
21g.43416983G>CCA410606631SIK1c.2111C>G (p.Ser704Trp)
c.1964C>G (p.Ser655Trp)
21g.43416983G=CA2391216275SIK1c.2111C= (p.Ser704=)
c.1964C= (p.Ser655=)
21g.43416983G>TCA410606632SIK1c.2111C>A (p.Ser704Ter)
c.1964C>A (p.Ser655Ter)
21g.43416984A>CCA410606633SIK1c.2110T>G (p.Ser704Ala)
c.1963T>G (p.Ser655Ala)
21g.43416984A>GCA410606635SIK1c.2110T>C (p.Ser704Pro)
c.1963T>C (p.Ser655Pro)
21g.43416984A>TCA410606634SIK1c.2110T>A (p.Ser704Thr)
c.1963T>A (p.Ser655Thr)
21g.43416985C=CA2391216276SIK1c.2109G= (p.Thr703=)
c.1962G= (p.Thr654=)
21g.43416985C>TCA321324468SIK1c.2109G>A (p.Thr703=)
c.1962G>A (p.Thr654=)
ClinVar dbSNP gnomAD v4
21g.43416986G>ACA410606636SIK1c.2108C>T (p.Thr703Met)
c.1961C>T (p.Thr654Met)
ClinVar dbSNP gnomAD v4
21g.43416986G>CCA410606637SIK1c.2108C>G (p.Thr703Arg)
c.1961C>G (p.Thr654Arg)
21g.43416986G=CA2391216277SIK1c.2108C= (p.Thr703=)
c.1961C= (p.Thr654=)
21g.43416986G>TCA410606638SIK1c.2108C>A (p.Thr703Lys)
c.1961C>A (p.Thr654Lys)
21g.43416987T>ACA410606639SIK1c.2107A>T (p.Thr703Ser)
c.1960A>T (p.Thr654Ser)
gnomAD v4
21g.43416987T>CCA410606640SIK1c.2107A>G (p.Thr703Ala)
c.1960A>G (p.Thr654Ala)
21g.43416987T>GCA410606641SIK1c.2107A>C (p.Thr703Pro)
c.1960A>C (p.Thr654Pro)
gnomAD v4
21g.43416989A>CCA410606642SIK1c.2105T>G (p.Leu702Arg)
c.1958T>G (p.Leu653Arg)
21g.43416989A>GCA410606643SIK1c.2105T>C (p.Leu702Pro)
c.1958T>C (p.Leu653Pro)
21g.43416989A>TCA410606644SIK1c.2105T>A (p.Leu702His)
c.1958T>A (p.Leu653His)
21g.43416990G>ACA410606645SIK1c.2104C>T (p.Leu702Phe)
c.1957C>T (p.Leu653Phe)
21g.43416990G>CCA410606646SIK1c.2104C>G (p.Leu702Val)
c.1957C>G (p.Leu653Val)
21g.43416990G=CA2391216278SIK1c.2104C= (p.Leu702=)
c.1957C= (p.Leu653=)
21g.43416990G>TCA410606647SIK1c.2104C>A (p.Leu702Ile)
c.1957C>A (p.Leu653Ile)
ClinVar dbSNP
21g.43416992A>CCA410606650SIK1c.2102T>G (p.Leu701Arg)
c.1955T>G (p.Leu652Arg)
21g.43416992A>GCA410606649SIK1c.2102T>C (p.Leu701Pro)
c.1955T>C (p.Leu652Pro)
21g.43416992A>TCA410606648SIK1c.2102T>A (p.Leu701His)
c.1955T>A (p.Leu652His)
21g.43416993G>ACA410606651SIK1c.2101C>T (p.Leu701Phe)
c.1954C>T (p.Leu652Phe)
21g.43416993G>CCA410606652SIK1c.2101C>G (p.Leu701Val)
c.1954C>G (p.Leu652Val)
21g.43416993G>TCA410606653SIK1c.2101C>A (p.Leu701Ile)
c.1954C>A (p.Leu652Ile)
21g.43416995G>ACA410606654SIK1c.2099C>T (p.Thr700Ile)
c.1952C>T (p.Thr651Ile)
ClinVar
21g.43416995G>CCA410606655SIK1c.2099C>G (p.Thr700Ser)
c.1952C>G (p.Thr651Ser)
21g.43416995G>TCA410606656SIK1c.2099C>A (p.Thr700Asn)
c.1952C>A (p.Thr651Asn)
21g.43416996T>ACA410606657SIK1c.2098A>T (p.Thr700Ser)
c.1951A>T (p.Thr651Ser)
21g.43416996T>CCA410606658SIK1c.2098A>G (p.Thr700Ala)
c.1951A>G (p.Thr651Ala)
dbSNP
21g.43416996T>GCA410606659SIK1c.2098A>C (p.Thr700Pro)
c.1951A>C (p.Thr651Pro)
21g.43416996T=CA2391216279SIK1c.2098A= (p.Thr700=)
c.1951A= (p.Thr651=)
21g.43416997G>CCA410606660SIK1c.2097C>G (p.Ser699Arg)
c.1950C>G (p.Ser650Arg)
21g.43416997G>TCA410606661SIK1c.2097C>A (p.Ser699Arg)
c.1950C>A (p.Ser650Arg)
21g.43416998C>ACA410606662SIK1c.2096G>T (p.Ser699Ile)
c.1949G>T (p.Ser650Ile)
21g.43416998C>GCA410606663SIK1c.2096G>C (p.Ser699Thr)
c.1949G>C (p.Ser650Thr)
21g.43416998C>TCA410606664SIK1c.2096G>A (p.Ser699Asn)
c.1949G>A (p.Ser650Asn)
21g.43416999T>ACA410606666SIK1c.2095A>T (p.Ser699Cys)
c.1948A>T (p.Ser650Cys)
21g.43416999T>CCA410606667SIK1c.2095A>G (p.Ser699Gly)
c.1948A>G (p.Ser650Gly)
21g.43416999T>GCA410606665SIK1c.2095A>C (p.Ser699Arg)
c.1948A>C (p.Ser650Arg)
21g.43417001G>ACA321324477SIK1c.2093C>T (p.Pro698Leu)
c.1946C>T (p.Pro649Leu)
ClinVar dbSNP
21g.43417001G>CCA410606668SIK1c.2093C>G (p.Pro698Arg)
c.1946C>G (p.Pro649Arg)
21g.43417001G=CA2391216280SIK1c.2093C= (p.Pro698=)
c.1946C= (p.Pro649=)
21g.43417001G>TCA410606669SIK1c.2093C>A (p.Pro698His)
c.1946C>A (p.Pro649His)
21g.43417002G>ACA410606670SIK1c.2092C>T (p.Pro698Ser)
c.1945C>T (p.Pro649Ser)
dbSNP
21g.43417002G>CCA410606671SIK1c.2092C>G (p.Pro698Ala)
c.1945C>G (p.Pro649Ala)
21g.43417002G=CA2391216281SIK1c.2092C= (p.Pro698=)
c.1945C= (p.Pro649=)
21g.43417002G>TCA410606672SIK1c.2092C>A (p.Pro698Thr)
c.1945C>A (p.Pro649Thr)
21g.43417003G>ACA321324478SIK1c.2091C>T (p.Leu697=)
c.1944C>T (p.Leu648=)
ClinVar dbSNP
21g.43417003G=CA2391216282SIK1c.2091C= (p.Leu697=)
c.1944C= (p.Leu648=)
21g.43417004A>CCA410606673SIK1c.2090T>G (p.Leu697Arg)
c.1943T>G (p.Leu648Arg)
21g.43417004A>GCA410606674SIK1c.2090T>C (p.Leu697Pro)
c.1943T>C (p.Leu648Pro)
21g.43417004A>TCA410606675SIK1c.2090T>A (p.Leu697His)
c.1943T>A (p.Leu648His)
21g.43417005G>ACA410606676SIK1c.2089C>T (p.Leu697Phe)
c.1942C>T (p.Leu648Phe)
21g.43417005G>CCA410606677SIK1c.2089C>G (p.Leu697Val)
c.1942C>G (p.Leu648Val)
dbSNP
21g.43417005G>TCA410606678SIK1c.2089C>A (p.Leu697Ile)
c.1942C>A (p.Leu648Ile)
dbSNP
21g.43417006C=CA2391216283SIK1c.2088G= (p.Pro696=)
c.1941G= (p.Pro647=)
21g.43417006C>TCA321324480SIK1c.2088G>A (p.Pro696=)
c.1941G>A (p.Pro647=)
ClinVar dbSNP COSMIC
21g.43417007G>ACA16603199SIK1c.2087C>T (p.Pro696Leu)
c.1940C>T (p.Pro647Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.43417007G>CCA410606679SIK1c.2087C>G (p.Pro696Arg)
c.1940C>G (p.Pro647Arg)
21g.43417007G=CA2391216284SIK1c.2087C= (p.Pro696=)
c.1940C= (p.Pro647=)
21g.43417007G>TCA410606680SIK1c.2087C>A (p.Pro696Gln)
c.1940C>A (p.Pro647Gln)
21g.43417010delCA2818014409SIK1c.2087del (p.Pro696ArgfsTer?)
c.1940del (p.Pro647ArgfsTer?)
21g.43417008G>ACA321324486SIK1c.2086C>T (p.Pro696Ser)
c.1939C>T (p.Pro647Ser)
ClinVar dbSNP
21g.43417008G>CCA410606681SIK1c.2086C>G (p.Pro696Ala)
c.1939C>G (p.Pro647Ala)
21g.43417008G=CA2391216285SIK1c.2086C= (p.Pro696=)
c.1939C= (p.Pro647=)
21g.43417008G>TCA410606682SIK1c.2086C>A (p.Pro696Thr)
c.1939C>A (p.Pro647Thr)
dbSNP
21g.43417010G>ACA410606683SIK1c.2084C>T (p.Ala695Val)
c.1937C>T (p.Ala646Val)
ClinVar dbSNP
21g.43417010G>CCA410606684SIK1c.2084C>G (p.Ala695Gly)
c.1937C>G (p.Ala646Gly)
21g.43417010G>TCA410606685SIK1c.2084C>A (p.Ala695Asp)
c.1937C>A (p.Ala646Asp)
21g.43417011C>ACA410606686SIK1c.2083G>T (p.Ala695Ser)
c.1936G>T (p.Ala646Ser)
gnomAD v4
21g.43417011C=CA2391216286SIK1c.2083G= (p.Ala695=)
c.1936G= (p.Ala646=)
21g.43417011C>GCA321324490SIK1c.2083G>C (p.Ala695Pro)
c.1936G>C (p.Ala646Pro)
ClinVar
21g.43417011C>TCA410606687SIK1c.2083G>A (p.Ala695Thr)
c.1936G>A (p.Ala646Thr)
21g.43417013G>ACA410606688SIK1c.2081C>T (p.Ala694Val)
c.1934C>T (p.Ala645Val)
21g.43417013G>CCA410606690SIK1c.2081C>G (p.Ala694Gly)
c.1934C>G (p.Ala645Gly)
21g.43417013G>TCA410606689SIK1c.2081C>A (p.Ala694Asp)
c.1934C>A (p.Ala645Asp)
21g.43417014C>ACA410606691SIK1c.2080G>T (p.Ala694Ser)
c.1933G>T (p.Ala645Ser)
21g.43417014C=CA2391216287SIK1c.2080G= (p.Ala694=)
c.1933G= (p.Ala645=)
21g.43417014C>GCA410606693SIK1c.2080G>C (p.Ala694Pro)
c.1933G>C (p.Ala645Pro)
21g.43417014C>TCA410606692SIK1c.2080G>A (p.Ala694Thr)
c.1933G>A (p.Ala645Thr)
dbSNP
21g.43417016C>ACA410606694SIK1c.2078G>T (p.Gly693Val)
c.1931G>T (p.Gly644Val)
21g.43417016C>GCA410606695SIK1c.2078G>C (p.Gly693Ala)
c.1931G>C (p.Gly644Ala)
21g.43417016C>TCA410606696SIK1c.2078G>A (p.Gly693Glu)
c.1931G>A (p.Gly644Glu)
21g.43417017C>ACA410606697SIK1c.2077G>T (p.Gly693Trp)
c.1930G>T (p.Gly644Trp)
21g.43417017C>GCA410606698SIK1c.2077G>C (p.Gly693Arg)
c.1930G>C (p.Gly644Arg)
21g.43417017C>TCA410606699SIK1c.2077G>A (p.Gly693Arg)
c.1930G>A (p.Gly644Arg)
21g.43417018A>CCA2818014410SIK1c.2076T>G (p.Pro692=)
c.1929T>G (p.Pro643=)
21g.43417019G>ACA410606700SIK1c.2075C>T (p.Pro692Leu)
c.1928C>T (p.Pro643Leu)
21g.43417019G>CCA410606701SIK1c.2075C>G (p.Pro692Arg)
c.1928C>G (p.Pro643Arg)
21g.43417019G>TCA410606702SIK1c.2075C>A (p.Pro692His)
c.1928C>A (p.Pro643His)
21g.43417020G>ACA410606703SIK1c.2074C>T (p.Pro692Ser)
c.1927C>T (p.Pro643Ser)
dbSNP
21g.43417020G>CCA410606704SIK1c.2074C>G (p.Pro692Ala)
c.1927C>G (p.Pro643Ala)
ClinVar dbSNP
21g.43417020G=CA2391216288SIK1c.2074C= (p.Pro692=)
c.1927C= (p.Pro643=)
21g.43417020G>TCA410606705SIK1c.2074C>A (p.Pro692Thr)
c.1927C>A (p.Pro643Thr)
21g.43417021G>TCA2573157454SIK1c.2073C>A (p.Gly691=)
c.1926C>A (p.Gly642=)
ClinVar dbSNP
21g.43417022C>ACA410606707SIK1c.2072G>T (p.Gly691Val)
c.1925G>T (p.Gly642Val)
21g.43417022C=CA2391216289SIK1c.2072G= (p.Gly691=)
c.1925G= (p.Gly642=)
21g.43417022C>GCA410606706SIK1c.2072G>C (p.Gly691Ala)
c.1925G>C (p.Gly642Ala)
21g.43417022C>TCA321324493SIK1c.2072G>A (p.Gly691Asp)
c.1925G>A (p.Gly642Asp)
ClinVar dbSNP gnomAD v4
21g.43417023C>ACA410606708SIK1c.2071G>T (p.Gly691Cys)
c.1924G>T (p.Gly642Cys)
21g.43417023C>GCA410606709SIK1c.2071G>C (p.Gly691Arg)
c.1924G>C (p.Gly642Arg)
21g.43417023C>TCA410606710SIK1c.2071G>A (p.Gly691Ser)
c.1924G>A (p.Gly642Ser)
21g.43417024A>CCA410606711SIK1c.2070T>G (p.Asp690Glu)
c.1923T>G (p.Asp641Glu)
21g.43417024A>TCA410606712SIK1c.2070T>A (p.Asp690Glu)
c.1923T>A (p.Asp641Glu)
21g.43417025T>ACA410606713SIK1c.2069A>T (p.Asp690Val)
c.1922A>T (p.Asp641Val)
21g.43417025T>CCA410606714SIK1c.2069A>G (p.Asp690Gly)
c.1922A>G (p.Asp641Gly)
21g.43417025T>GCA410606715SIK1c.2069A>C (p.Asp690Ala)
c.1922A>C (p.Asp641Ala)
21g.43417026C>ACA410606716SIK1c.2068G>T (p.Asp690Tyr)
c.1921G>T (p.Asp641Tyr)
21g.43417026C>GCA410606717SIK1c.2068G>C (p.Asp690His)
c.1921G>C (p.Asp641His)
21g.43417026C>TCA410606718SIK1c.2068G>A (p.Asp690Asn)
c.1921G>A (p.Asp641Asn)
21g.43417027A>CCA410606719SIK1c.2067T>G (p.Cys689Trp)
c.1920T>G (p.Cys640Trp)
gnomAD v4
21g.43417027A>TCA410606720SIK1c.2067T>A (p.Cys689Ter)
c.1920T>A (p.Cys640Ter)
21g.43417028C>ACA410606722SIK1c.2066G>T (p.Cys689Phe)
c.1919G>T (p.Cys640Phe)
21g.43417028C>GCA410606723SIK1c.2066G>C (p.Cys689Ser)
c.1919G>C (p.Cys640Ser)
21g.43417028C>TCA410606721SIK1c.2066G>A (p.Cys689Tyr)
c.1919G>A (p.Cys640Tyr)
21g.43417029A=CA2391216290SIK1c.2065T= (p.Cys689=)
c.1918T= (p.Cys640=)
21g.43417029A>CCA410606724SIK1c.2065T>G (p.Cys689Gly)
c.1918T>G (p.Cys640Gly)
21g.43417029A>GCA410606725SIK1c.2065T>C (p.Cys689Arg)
c.1918T>C (p.Cys640Arg)
21g.43417029A>TCA321324496SIK1c.2065T>A (p.Cys689Ser)
c.1918T>A (p.Cys640Ser)
ClinVar dbSNP
21g.43417031G>ACA410606726SIK1c.2063C>T (p.Pro688Leu)
c.1916C>T (p.Pro639Leu)
21g.43417031G>CCA410606727SIK1c.2063C>G (p.Pro688Arg)
c.1916C>G (p.Pro639Arg)
21g.43417031G>TCA410606728SIK1c.2063C>A (p.Pro688His)
c.1916C>A (p.Pro639His)
21g.43417032G>ACA410606729SIK1c.2062C>T (p.Pro688Ser)
c.1915C>T (p.Pro639Ser)
ClinVar
21g.43417032G>CCA410606730SIK1c.2062C>G (p.Pro688Ala)
c.1915C>G (p.Pro639Ala)
ClinVar dbSNP
21g.43417032G=CA2391216291SIK1c.2062C= (p.Pro688=)
c.1915C= (p.Pro639=)
21g.43417032G>TCA321324499SIK1c.2062C>A (p.Pro688Thr)
c.1915C>A (p.Pro639Thr)
dbSNP
21g.43417034G>ACA410606731SIK1c.2060C>T (p.Ala687Val)
c.1913C>T (p.Ala638Val)
ClinVar dbSNP
21g.43417034G>CCA410606732SIK1c.2060C>G (p.Ala687Gly)
c.1913C>G (p.Ala638Gly)
21g.43417034G=CA2391216292SIK1c.2060C= (p.Ala687=)
c.1913C= (p.Ala638=)
21g.43417034G>TCA410606733SIK1c.2060C>A (p.Ala687Asp)
c.1913C>A (p.Ala638Asp)
dbSNP
21g.43417035C>ACA410606734SIK1c.2059G>T (p.Ala687Ser)
c.1912G>T (p.Ala638Ser)
ClinVar
21g.43417035C=CA2391216293SIK1c.2059G= (p.Ala687=)
c.1912G= (p.Ala638=)
21g.43417035C>GCA410606735SIK1c.2059G>C (p.Ala687Pro)
c.1912G>C (p.Ala638Pro)
21g.43417035C>TCA321324503SIK1c.2059G>A (p.Ala687Thr)
c.1912G>A (p.Ala638Thr)
ClinVar dbSNP gnomAD v4
21g.43417036G>ACA749584956SIK1c.2058C>T (p.Ile686=)
c.1911C>T (p.Ile637=)
ClinVar dbSNP
21g.43417036G>CCA410606736SIK1c.2058C>G (p.Ile686Met)
c.1911C>G (p.Ile637Met)
21g.43417036G=CA2391216294SIK1c.2058C= (p.Ile686=)
c.1911C= (p.Ile637=)
21g.43417036G>TCA2391216295SIK1c.2058C>A (p.Ile686=)
c.1911C>A (p.Ile637=)
dbSNP
21g.43417037A>CCA410606737SIK1c.2057T>G (p.Ile686Ser)
c.1910T>G (p.Ile637Ser)
21g.43417037A>GCA410606738SIK1c.2057T>C (p.Ile686Thr)
c.1910T>C (p.Ile637Thr)
21g.43417037A>TCA410606739SIK1c.2057T>A (p.Ile686Asn)
c.1910T>A (p.Ile637Asn)
21g.43417038T>ACA410606740SIK1c.2056A>T (p.Ile686Phe)
c.1909A>T (p.Ile637Phe)
21g.43417038T>CCA410606741SIK1c.2056A>G (p.Ile686Val)
c.1909A>G (p.Ile637Val)
21g.43417038T>GCA410606742SIK1c.2056A>C (p.Ile686Leu)
c.1909A>C (p.Ile637Leu)
21g.43417039C=CA2391216296SIK1c.2055G= (p.Val685=)
c.1908G= (p.Val636=)
21g.43417039C>TCA2391216297SIK1c.2055G>A (p.Val685=)
c.1908G>A (p.Val636=)
dbSNP
21g.43417040A>CCA410606743SIK1c.2054T>G (p.Val685Gly)
c.1907T>G (p.Val636Gly)
21g.43417040A>GCA410606744SIK1c.2054T>C (p.Val685Ala)
c.1907T>C (p.Val636Ala)
21g.43417040A>TCA410606745SIK1c.2054T>A (p.Val685Glu)
c.1907T>A (p.Val636Glu)
21g.43417041C>ACA410606747SIK1c.2053G>T (p.Val685Leu)
c.1906G>T (p.Val636Leu)
COSMIC
21g.43417041C=CA2391216298SIK1c.2053G= (p.Val685=)
c.1906G= (p.Val636=)
21g.43417041C>GCA410606748SIK1c.2053G>C (p.Val685Leu)
c.1906G>C (p.Val636Leu)
21g.43417041C>TCA410606746SIK1c.2053G>A (p.Val685Met)
c.1906G>A (p.Val636Met)
ClinVar dbSNP
21g.43417042A=CA2391216299SIK1c.2052T= (p.Phe684=)
c.1905T= (p.Phe635=)
21g.43417042A>CCA321324505SIK1c.2052T>G (p.Phe684Leu)
c.1905T>G (p.Phe635Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417042A>GCA2499225950SIK1c.2052T>C (p.Phe684=)
c.1905T>C (p.Phe635=)
ClinVar dbSNP
21g.43417042A>TCA410606749SIK1c.2052T>A (p.Phe684Leu)
c.1905T>A (p.Phe635Leu)
ClinVar dbSNP
21g.43417043A>CCA410606750SIK1c.2051T>G (p.Phe684Cys)
c.1904T>G (p.Phe635Cys)
gnomAD v4
21g.43417043A>GCA410606751SIK1c.2051T>C (p.Phe684Ser)
c.1904T>C (p.Phe635Ser)
dbSNP
21g.43417043A>TCA410606752SIK1c.2051T>A (p.Phe684Tyr)
c.1904T>A (p.Phe635Tyr)
21g.43417044A>CCA410606755SIK1c.2050T>G (p.Phe684Val)
c.1903T>G (p.Phe635Val)
gnomAD v4
21g.43417044A>GCA410606754SIK1c.2050T>C (p.Phe684Leu)
c.1903T>C (p.Phe635Leu)
21g.43417044A>TCA410606753SIK1c.2050T>A (p.Phe684Ile)
c.1903T>A (p.Phe635Ile)
21g.43417045C=CA2391216300SIK1c.2049G= (p.Pro683=)
c.1902G= (p.Pro634=)
21g.43417045C>TCA321324508SIK1c.2049G>A (p.Pro683=)
c.1902G>A (p.Pro634=)
ClinVar dbSNP gnomAD v4
21g.43417046G>ACA321324511SIK1c.2048C>T (p.Pro683Leu)
c.1901C>T (p.Pro634Leu)
ClinVar dbSNP gnomAD v4
21g.43417046G>CCA410606756SIK1c.2048C>G (p.Pro683Arg)
c.1901C>G (p.Pro634Arg)
21g.43417046G=CA2391216301SIK1c.2048C= (p.Pro683=)
c.1901C= (p.Pro634=)
21g.43417046G>TCA321324516SIK1c.2048C>A (p.Pro683Gln)
c.1901C>A (p.Pro634Gln)
dbSNP
21g.43417047G>ACA410606757SIK1c.2047C>T (p.Pro683Ser)
c.1900C>T (p.Pro634Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417047G>CCA410606758SIK1c.2047C>G (p.Pro683Ala)
c.1900C>G (p.Pro634Ala)
21g.43417047G=CA2391216302SIK1c.2047C= (p.Pro683=)
c.1900C= (p.Pro634=)
21g.43417047G>TCA410606759SIK1c.2047C>A (p.Pro683Thr)
c.1900C>A (p.Pro634Thr)

Number of alleles fetched