Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.148118456G>ACA3495877SPINK5c.2132G>A (p.Arg711Gln)
n.2296G>A
c.2075G>A (p.Arg692Gln)
c.2048G>A (p.Arg683Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118456G>CCA361644669SPINK5c.2132G>C (p.Arg711Pro)
n.2296G>C
c.2075G>C (p.Arg692Pro)
c.2048G>C (p.Arg683Pro)
5g.148118456G=CA1589897163SPINK5c.2132G= (p.Arg711=)
n.2296G=
c.2075G= (p.Arg692=)
c.2048G= (p.Arg683=)
5g.148118456G>TCA361644670SPINK5c.2132G>T (p.Arg711Leu)
n.2296G>T
c.2075G>T (p.Arg692Leu)
c.2048G>T (p.Arg683Leu)
 dbSNP
5g.148118457G>ACA446936797SPINK5c.2133G>A (p.Arg711=)
n.2297G>A
c.2076G>A (p.Arg692=)
c.2049G>A (p.Arg683=)
5g.148118457G>CCA446936798SPINK5c.2133G>C (p.Arg711=)
n.2297G>C
c.2076G>C (p.Arg692=)
c.2049G>C (p.Arg683=)
5g.148118457G>TCA446936799SPINK5c.2133G>T (p.Arg711=)
n.2297G>T
c.2076G>T (p.Arg692=)
c.2049G>T (p.Arg683=)
5g.148118458G>ACA3495878SPINK5c.2134G>A (p.Glu712Lys)
n.2298G>A
c.2077G>A (p.Glu693Lys)
c.2050G>A (p.Glu684Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118458G>CCA361644673SPINK5c.2134G>C (p.Glu712Gln)
n.2298G>C
c.2077G>C (p.Glu693Gln)
c.2050G>C (p.Glu684Gln)
5g.148118458G=CA1589897164SPINK5c.2134G= (p.Glu712=)
n.2298G=
c.2077G= (p.Glu693=)
c.2050G= (p.Glu684=)
5g.148118458G>TCA361644672SPINK5c.2134G>T (p.Glu712Ter)
n.2298G>T
c.2077G>T (p.Glu693Ter)
c.2050G>T (p.Glu684Ter)
5g.148118459A>CCA361644675SPINK5c.2135A>C (p.Glu712Ala)
n.2299A>C
c.2078A>C (p.Glu693Ala)
c.2051A>C (p.Glu684Ala)
5g.148118459A>GCA361644677SPINK5c.2135A>G (p.Glu712Gly)
n.2299A>G
c.2078A>G (p.Glu693Gly)
c.2051A>G (p.Glu684Gly)
5g.148118459A>TCA361644678SPINK5c.2135A>T (p.Glu712Val)
n.2299A>T
c.2078A>T (p.Glu693Val)
c.2051A>T (p.Glu684Val)
5g.148118460A>CCA361644679SPINK5c.2136A>C (p.Glu712Asp)
n.2300A>C
c.2079A>C (p.Glu693Asp)
c.2052A>C (p.Glu684Asp)
5g.148118460A>GCA446936800SPINK5c.2136A>G (p.Glu712=)
n.2300A>G
c.2079A>G (p.Glu693=)
c.2052A>G (p.Glu684=)
5g.148118460A>TCA361644680SPINK5c.2136A>T (p.Glu712Asp)
n.2300A>T
c.2079A>T (p.Glu693Asp)
c.2052A>T (p.Glu684Asp)
5g.148118461C>ACA361644681SPINK5c.2137C>A (p.Gln713Lys)
n.2301C>A
c.2080C>A (p.Gln694Lys)
c.2053C>A (p.Gln685Lys)
5g.148118461C>GCA361644682SPINK5c.2137C>G (p.Gln713Glu)
n.2301C>G
c.2080C>G (p.Gln694Glu)
c.2053C>G (p.Gln685Glu)
5g.148118461C>TCA361644683SPINK5c.2137C>T (p.Gln713Ter)
n.2301C>T
c.2080C>T (p.Gln694Ter)
c.2053C>T (p.Gln685Ter)
 gnomAD v4
5g.148118462A=CA1589897165SPINK5c.2138A= (p.Gln713=)
n.2302A=
c.2081A= (p.Gln694=)
c.2054A= (p.Gln685=)
5g.148118462A>CCA361644684SPINK5c.2138A>C (p.Gln713Pro)
n.2302A>C
c.2081A>C (p.Gln694Pro)
c.2054A>C (p.Gln685Pro)
 dbSNP
5g.148118462A>GCA361644685SPINK5c.2138A>G (p.Gln713Arg)
n.2302A>G
c.2081A>G (p.Gln694Arg)
c.2054A>G (p.Gln685Arg)
5g.148118462A>TCA3495879SPINK5c.2138A>T (p.Gln713Leu)
n.2302A>T
c.2081A>T (p.Gln694Leu)
c.2054A>T (p.Gln685Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118463A>CCA361644688SPINK5c.2139A>C (p.Gln713His)
n.2303A>C
c.2082A>C (p.Gln694His)
c.2055A>C (p.Gln685His)
5g.148118463A>GCA446936801SPINK5c.2139A>G (p.Gln713=)
n.2303A>G
c.2082A>G (p.Gln694=)
c.2055A>G (p.Gln685=)
5g.148118463A>TCA361644686SPINK5c.2139A>T (p.Gln713His)
n.2303A>T
c.2082A>T (p.Gln694His)
c.2055A>T (p.Gln685His)
5g.148118464A>CCA361644690SPINK5c.2140A>C (p.Met714Leu)
n.2304A>C
c.2083A>C (p.Met695Leu)
c.2056A>C (p.Met686Leu)
5g.148118464A>GCA361644693SPINK5c.2140A>G (p.Met714Val)
n.2304A>G
c.2083A>G (p.Met695Val)
c.2056A>G (p.Met686Val)
5g.148118464A>TCA361644692SPINK5c.2140A>T (p.Met714Leu)
n.2304A>T
c.2083A>T (p.Met695Leu)
c.2056A>T (p.Met686Leu)
5g.148118465T>ACA361644694SPINK5c.2141T>A (p.Met714Lys)
n.2305T>A
c.2084T>A (p.Met695Lys)
c.2057T>A (p.Met686Lys)
5g.148118465T>CCA361644696SPINK5c.2141T>C (p.Met714Thr)
n.2305T>C
c.2084T>C (p.Met695Thr)
c.2057T>C (p.Met686Thr)
 gnomAD v4
5g.148118465T>GCA361644698SPINK5c.2141T>G (p.Met714Arg)
n.2305T>G
c.2084T>G (p.Met695Arg)
c.2057T>G (p.Met686Arg)
5g.148118466G>ACA361644700SPINK5c.2142G>A (p.Met714Ile)
n.2306G>A
c.2085G>A (p.Met695Ile)
c.2058G>A (p.Met686Ile)
5g.148118466G>CCA361644702SPINK5c.2142G>C (p.Met714Ile)
n.2306G>C
c.2085G>C (p.Met695Ile)
c.2058G>C (p.Met686Ile)
5g.148118466G>TCA361644704SPINK5c.2142G>T (p.Met714Ile)
n.2306G>T
c.2085G>T (p.Met695Ile)
c.2058G>T (p.Met686Ile)
5g.148118467A>CCA361644706SPINK5c.2143A>C (p.Lys715Gln)
n.2307A>C
c.2086A>C (p.Lys696Gln)
c.2059A>C (p.Lys687Gln)
5g.148118467A>GCA361644707SPINK5c.2143A>G (p.Lys715Glu)
n.2307A>G
c.2086A>G (p.Lys696Glu)
c.2059A>G (p.Lys687Glu)
 dbSNP gnomAD v4
5g.148118467A>TCA361644709SPINK5c.2143A>T (p.Lys715Ter)
n.2307A>T
c.2086A>T (p.Lys696Ter)
c.2059A>T (p.Lys687Ter)
5g.148118471_148118472insAAAAAAAACA2768831652SPINK5c.2147_2148insAAAAAAAA (p.Asn716LysfsTer?)
n.2311_2312insAAAAAAAA
c.2090_2091insAAAAAAAA (p.Asn697LysfsTer?)
c.2063_2064insAAAAAAAA (p.Asn688LysfsTer?)
5g.148118468A>CCA361644711SPINK5c.2144A>C (p.Lys715Thr)
n.2308A>C
c.2087A>C (p.Lys696Thr)
c.2060A>C (p.Lys687Thr)
5g.148118468A>GCA361644712SPINK5c.2144A>G (p.Lys715Arg)
n.2308A>G
c.2087A>G (p.Lys696Arg)
c.2060A>G (p.Lys687Arg)
 gnomAD v4
5g.148118468A>TCA361644716SPINK5c.2144A>T (p.Lys715Ile)
n.2308A>T
c.2087A>T (p.Lys696Ile)
c.2060A>T (p.Lys687Ile)
5g.148118469A>CCA361644718SPINK5c.2145A>C (p.Lys715Asn)
n.2309A>C
c.2088A>C (p.Lys696Asn)
c.2061A>C (p.Lys687Asn)
5g.148118469A>GCA446936802SPINK5c.2145A>G (p.Lys715=)
n.2309A>G
c.2088A>G (p.Lys696=)
c.2061A>G (p.Lys687=)
5g.148118469A>TCA361644719SPINK5c.2145A>T (p.Lys715Asn)
n.2309A>T
c.2088A>T (p.Lys696Asn)
c.2061A>T (p.Lys687Asn)
5g.148118470A=CA1589897166SPINK5c.2146A= (p.Asn716=)
n.2310A=
c.2089A= (p.Asn697=)
c.2062A= (p.Asn688=)
5g.148118470A>CCA361644722SPINK5c.2146A>C (p.Asn716His)
n.2310A>C
c.2089A>C (p.Asn697His)
c.2062A>C (p.Asn688His)
 dbSNP gnomAD v3 gnomAD v4
5g.148118470A>GCA361644723SPINK5c.2146A>G (p.Asn716Asp)
n.2310A>G
c.2089A>G (p.Asn697Asp)
c.2062A>G (p.Asn688Asp)
5g.148118470A>TCA361644724SPINK5c.2146A>T (p.Asn716Tyr)
n.2310A>T
c.2089A>T (p.Asn697Tyr)
c.2062A>T (p.Asn688Tyr)
5g.148118471A>CCA361644726SPINK5c.2147A>C (p.Asn716Thr)
n.2311A>C
c.2090A>C (p.Asn697Thr)
c.2063A>C (p.Asn688Thr)
5g.148118471A>GCA361644727SPINK5c.2147A>G (p.Asn716Ser)
n.2311A>G
c.2090A>G (p.Asn697Ser)
c.2063A>G (p.Asn688Ser)
5g.148118471A>TCA361644729SPINK5c.2147A>T (p.Asn716Ile)
n.2311A>T
c.2090A>T (p.Asn697Ile)
c.2063A>T (p.Asn688Ile)
5g.148118472T>ACA361644730SPINK5c.2148T>A (p.Asn716Lys)
n.2312T>A
c.2091T>A (p.Asn697Lys)
c.2064T>A (p.Asn688Lys)
5g.148118472T>CCA446936803SPINK5c.2148T>C (p.Asn716=)
n.2312T>C
c.2091T>C (p.Asn697=)
c.2064T>C (p.Asn688=)
5g.148118472T>GCA361644731SPINK5c.2148T>G (p.Asn716Lys)
n.2312T>G
c.2091T>G (p.Asn697Lys)
c.2064T>G (p.Asn688Lys)
5g.148118473G>ACA361644732SPINK5c.2149G>A (p.Gly717Arg)
n.2313G>A
c.2092G>A (p.Gly698Arg)
c.2065G>A (p.Gly689Arg)
 gnomAD v4
5g.148118473G>CCA361644733SPINK5c.2149G>C (p.Gly717Arg)
n.2313G>C
c.2092G>C (p.Gly698Arg)
c.2065G>C (p.Gly689Arg)
5g.148118473G>TCA361644734SPINK5c.2149G>T (p.Gly717Ter)
n.2313G>T
c.2092G>T (p.Gly698Ter)
c.2065G>T (p.Gly689Ter)
5g.148118474G>ACA361644736SPINK5c.2150G>A (p.Gly717Glu)
n.2314G>A
c.2093G>A (p.Gly698Glu)
c.2066G>A (p.Gly689Glu)
 COSMIC COSMIC
5g.148118474G>CCA361644737SPINK5c.2150G>C (p.Gly717Ala)
n.2314G>C
c.2093G>C (p.Gly698Ala)
c.2066G>C (p.Gly689Ala)
5g.148118474G>TCA361644735SPINK5c.2150G>T (p.Gly717Val)
n.2314G>T
c.2093G>T (p.Gly698Val)
c.2066G>T (p.Gly689Val)
5g.148118475A>CCA446936804SPINK5c.2151A>C (p.Gly717=)
n.2315A>C
c.2094A>C (p.Gly698=)
c.2067A>C (p.Gly689=)
5g.148118475A>GCA446936806SPINK5c.2151A>G (p.Gly717=)
n.2315A>G
c.2094A>G (p.Gly698=)
c.2067A>G (p.Gly689=)
5g.148118475A>TCA446936805SPINK5c.2151A>T (p.Gly717=)
n.2315A>T
c.2094A>T (p.Gly698=)
c.2067A>T (p.Gly689=)
5g.148118476A>CCA446936807SPINK5c.2152A>C (p.Arg718=)
n.2316A>C
c.2095A>C (p.Arg699=)
c.2068A>C (p.Arg690=)
5g.148118476A>GCA361644739SPINK5c.2152A>G (p.Arg718Gly)
n.2316A>G
c.2095A>G (p.Arg699Gly)
c.2068A>G (p.Arg690Gly)
5g.148118476A>TCA361644745SPINK5c.2152A>T (p.Arg718Ter)
n.2316A>T
c.2095A>T (p.Arg699Ter)
c.2068A>T (p.Arg690Ter)
5g.148118477G>ACA361644754SPINK5c.2153G>A (p.Arg718Lys)
n.2317G>A
c.2096G>A (p.Arg699Lys)
c.2069G>A (p.Arg690Lys)
5g.148118477G>CCA361644756SPINK5c.2153G>C (p.Arg718Thr)
n.2317G>C
c.2096G>C (p.Arg699Thr)
c.2069G>C (p.Arg690Thr)
 COSMIC COSMIC
5g.148118477G>TCA361644758SPINK5c.2153G>T (p.Arg718Ile)
n.2317G>T
c.2096G>T (p.Arg699Ile)
c.2069G>T (p.Arg690Ile)
5g.148118478A=CA1589897167SPINK5c.2154A= (p.Arg718=)
n.2318A=
c.2097A= (p.Arg699=)
c.2070A= (p.Arg690=)
5g.148118478A>CCA361644760SPINK5c.2154A>C (p.Arg718Ser)
n.2318A>C
c.2097A>C (p.Arg699Ser)
c.2070A>C (p.Arg690Ser)
5g.148118478A>GCA446936808SPINK5c.2154A>G (p.Arg718=)
n.2318A>G
c.2097A>G (p.Arg699=)
c.2070A>G (p.Arg690=)
 dbSNP gnomAD v2 gnomAD v4
5g.148118478A>TCA361644761SPINK5c.2154A>T (p.Arg718Ser)
n.2318A>T
c.2097A>T (p.Arg699Ser)
c.2070A>T (p.Arg690Ser)
5g.148118478_148118480delinsACTCA1589897168SPINK5c.2154_2156delinsACT (p.Arg718=)
n.2318_2320delinsACT
c.2097_2099delinsACT (p.Arg699=)
c.2070_2072delinsACT (p.Arg690=)
5g.148118479C>ACA361644764SPINK5c.2155C>A (p.Leu719Ile)
n.2319C>A
c.2098C>A (p.Leu700Ile)
c.2071C>A (p.Leu691Ile)
5g.148118479C>GCA361644767SPINK5c.2155C>G (p.Leu719Val)
n.2319C>G
c.2098C>G (p.Leu700Val)
c.2071C>G (p.Leu691Val)
5g.148118479C>TCA361644765SPINK5c.2155C>T (p.Leu719Phe)
n.2319C>T
c.2098C>T (p.Leu700Phe)
c.2071C>T (p.Leu691Phe)
5g.148118480_148118481delCA563524780SPINK5c.2156_2157del (p.Leu719GlnfsTer7)
n.2320_2321del
c.2099_2100del (p.Leu700GlnfsTer7)
c.2072_2073del (p.Leu691GlnfsTer7)
 dbSNP gnomAD v2
5g.148118480T>ACA361644773SPINK5c.2156T>A (p.Leu719His)
n.2320T>A
c.2099T>A (p.Leu700His)
c.2072T>A (p.Leu691His)
5g.148118480T>CCA361644775SPINK5c.2156T>C (p.Leu719Pro)
n.2320T>C
c.2099T>C (p.Leu700Pro)
c.2072T>C (p.Leu691Pro)
5g.148118480T>GCA361644781SPINK5c.2156T>G (p.Leu719Arg)
n.2320T>G
c.2099T>G (p.Leu700Arg)
c.2072T>G (p.Leu691Arg)
5g.148118481C>ACA446936809SPINK5c.2157C>A (p.Leu719=)
n.2321C>A
c.2100C>A (p.Leu700=)
c.2073C>A (p.Leu691=)
5g.148118481C=CA1589897169SPINK5c.2157C= (p.Leu719=)
n.2321C=
c.2100C= (p.Leu700=)
c.2073C= (p.Leu691=)
5g.148118481C>GCA3495880SPINK5c.2157C>G (p.Leu719=)
n.2321C>G
c.2100C>G (p.Leu700=)
c.2073C>G (p.Leu691=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118481C>TCA446936810SPINK5c.2157C>T (p.Leu719=)
n.2321C>T
c.2100C>T (p.Leu700=)
c.2073C>T (p.Leu691=)
5g.148118482A>CCA361644784SPINK5c.2158A>C (p.Ser720Arg)
n.2322A>C
c.2101A>C (p.Ser701Arg)
c.2074A>C (p.Ser692Arg)
5g.148118482A>GCA361644793SPINK5c.2158A>G (p.Ser720Gly)
n.2322A>G
c.2101A>G (p.Ser701Gly)
c.2074A>G (p.Ser692Gly)
 gnomAD v4
5g.148118482A>TCA361644791SPINK5c.2158A>T (p.Ser720Cys)
n.2322A>T
c.2101A>T (p.Ser701Cys)
c.2074A>T (p.Ser692Cys)
5g.148118483G>ACA361644796SPINK5c.2159G>A (p.Ser720Asn)
n.2323G>A
c.2102G>A (p.Ser701Asn)
c.2075G>A (p.Ser692Asn)
5g.148118483G>CCA361644797SPINK5c.2159G>C (p.Ser720Thr)
n.2323G>C
c.2102G>C (p.Ser701Thr)
c.2075G>C (p.Ser692Thr)
5g.148118483G>TCA361644801SPINK5c.2159G>T (p.Ser720Ile)
n.2323G>T
c.2102G>T (p.Ser701Ile)
c.2075G>T (p.Ser692Ile)
5g.148118484C>ACA361644802SPINK5c.2160C>A (p.Ser720Arg)
n.2324C>A
c.2103C>A (p.Ser701Arg)
c.2076C>A (p.Ser692Arg)
5g.148118484C=CA1589897170SPINK5c.2160C= (p.Ser720=)
n.2324C=
c.2103C= (p.Ser701=)
c.2076C= (p.Ser692=)
5g.148118484C>GCA361644803SPINK5c.2160C>G (p.Ser720Arg)
n.2324C>G
c.2103C>G (p.Ser701Arg)
c.2076C>G (p.Ser692Arg)
5g.148118484C>TCA446936811SPINK5c.2160C>T (p.Ser720=)
n.2324C>T
c.2103C>T (p.Ser701=)
c.2076C>T (p.Ser692=)
 dbSNP gnomAD v2 gnomAD v4
5g.148118485T>ACA361644804SPINK5c.2161T>A (p.Cys721Ser)
n.2325T>A
c.2104T>A (p.Cys702Ser)
c.2077T>A (p.Cys693Ser)
5g.148118485T>CCA128935324SPINK5c.2161T>C (p.Cys721Arg)
n.2325T>C
c.2104T>C (p.Cys702Arg)
c.2077T>C (p.Cys693Arg)
 dbSNP
5g.148118485T>GCA361644805SPINK5c.2161T>G (p.Cys721Gly)
n.2325T>G
c.2104T>G (p.Cys702Gly)
c.2077T>G (p.Cys693Gly)
 dbSNP
5g.148118485T=CA1589897171SPINK5c.2161T= (p.Cys721=)
n.2325T=
c.2104T= (p.Cys702=)
c.2077T= (p.Cys693=)
5g.148118486G>ACA3495881SPINK5c.2162G>A (p.Cys721Tyr)
n.2326G>A
c.2105G>A (p.Cys702Tyr)
c.2078G>A (p.Cys693Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118486G>CCA361644808SPINK5c.2162G>C (p.Cys721Ser)
n.2326G>C
c.2105G>C (p.Cys702Ser)
c.2078G>C (p.Cys693Ser)
 dbSNP gnomAD v4
5g.148118486G=CA1589897172SPINK5c.2162G= (p.Cys721=)
n.2326G=
c.2105G= (p.Cys702=)
c.2078G= (p.Cys693=)
5g.148118486G>TCA361644809SPINK5c.2162G>T (p.Cys721Phe)
n.2326G>T
c.2105G>T (p.Cys702Phe)
c.2078G>T (p.Cys693Phe)
5g.148118487T>ACA361644811SPINK5c.2163T>A (p.Cys721Ter)
n.2327T>A
c.2106T>A (p.Cys702Ter)
c.2079T>A (p.Cys693Ter)
5g.148118487T>CCA446936812SPINK5c.2163T>C (p.Cys721=)
n.2327T>C
c.2106T>C (p.Cys702=)
c.2079T>C (p.Cys693=)
5g.148118487T>GCA361644812SPINK5c.2163T>G (p.Cys721Trp)
n.2327T>G
c.2106T>G (p.Cys702Trp)
c.2079T>G (p.Cys693Trp)
5g.148118488A=CA1589897173SPINK5c.2164A= (p.Thr722=)
n.2328A=
c.2107A= (p.Thr703=)
c.2080A= (p.Thr694=)
5g.148118488A>CCA3495882SPINK5c.2164A>C (p.Thr722Pro)
n.2328A>C
c.2107A>C (p.Thr703Pro)
c.2080A>C (p.Thr694Pro)
 dbSNP ExAC gnomAD v2
5g.148118488A>GCA361644814SPINK5c.2164A>G (p.Thr722Ala)
n.2328A>G
c.2107A>G (p.Thr703Ala)
c.2080A>G (p.Thr694Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.148118488A>TCA361644813SPINK5c.2164A>T (p.Thr722Ser)
n.2328A>T
c.2107A>T (p.Thr703Ser)
c.2080A>T (p.Thr694Ser)
5g.148118489C>ACA361644819SPINK5c.2165C>A (p.Thr722Asn)
n.2329C>A
c.2108C>A (p.Thr703Asn)
c.2081C>A (p.Thr694Asn)
 dbSNP
5g.148118489C=CA1589897174SPINK5c.2165C= (p.Thr722=)
n.2329C=
c.2108C= (p.Thr703=)
c.2081C= (p.Thr694=)
5g.148118489C>GCA361644817SPINK5c.2165C>G (p.Thr722Ser)
n.2329C>G
c.2108C>G (p.Thr703Ser)
c.2081C>G (p.Thr694Ser)
5g.148118489C>TCA3495883SPINK5c.2165C>T (p.Thr722Ile)
n.2329C>T
c.2108C>T (p.Thr703Ile)
c.2081C>T (p.Thr694Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118490T>ACA446936813SPINK5c.2166T>A (p.Thr722=)
n.2330T>A
c.2109T>A (p.Thr703=)
c.2082T>A (p.Thr694=)
5g.148118490T>CCA446936814SPINK5c.2166T>C (p.Thr722=)
n.2330T>C
c.2109T>C (p.Thr703=)
c.2082T>C (p.Thr694=)
5g.148118490T>GCA128935359SPINK5c.2166T>G (p.Thr722=)
n.2330T>G
c.2109T>G (p.Thr703=)
c.2082T>G (p.Thr694=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148118490T=CA1589897175SPINK5c.2166T= (p.Thr722=)
n.2330T=
c.2109T= (p.Thr703=)
c.2082T= (p.Thr694=)
5g.148118491C>ACA446936815SPINK5c.2167C>A (p.Arg723=)
n.2331C>A
c.2110C>A (p.Arg704=)
c.2083C>A (p.Arg695=)
5g.148118491C=CA1589897176SPINK5c.2167C= (p.Arg723=)
n.2331C=
c.2110C= (p.Arg704=)
c.2083C= (p.Arg695=)
5g.148118491C>GCA361644822SPINK5c.2167C>G (p.Arg723Gly)
n.2331C>G
c.2110C>G (p.Arg704Gly)
c.2083C>G (p.Arg695Gly)
5g.148118491C>TCA3495884SPINK5c.2167C>T (p.Arg723Trp)
n.2331C>T
c.2110C>T (p.Arg704Trp)
c.2083C>T (p.Arg695Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118492G>ACA3495885SPINK5c.2168G>A (p.Arg723Gln)
n.2332G>A
c.2111G>A (p.Arg704Gln)
c.2084G>A (p.Arg695Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.148118492G>CCA361644828SPINK5c.2168G>C (p.Arg723Pro)
n.2332G>C
c.2111G>C (p.Arg704Pro)
c.2084G>C (p.Arg695Pro)
5g.148118492G=CA1589897177SPINK5c.2168G= (p.Arg723=)
n.2332G=
c.2111G= (p.Arg704=)
c.2084G= (p.Arg695=)
5g.148118492G>TCA361644830SPINK5c.2168G>T (p.Arg723Leu)
n.2332G>T
c.2111G>T (p.Arg704Leu)
c.2084G>T (p.Arg695Leu)
5g.148118493_148118496delCA2768831653SPINK5c.2169_2172del (p.Glu724ValfsTer?)
n.2333_2336del
c.2112_2115del (p.Glu705ValfsTer?)
c.2085_2088del (p.Glu696ValfsTer?)
5g.148118493G>ACA446936816SPINK5c.2169G>A (p.Arg723=)
n.2333G>A
c.2112G>A (p.Arg704=)
c.2085G>A (p.Arg695=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.148118493G>CCA3495886SPINK5c.2169G>C (p.Arg723=)
n.2333G>C
c.2112G>C (p.Arg704=)
c.2085G>C (p.Arg695=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148118493G=CA1589897178SPINK5c.2169G= (p.Arg723=)
n.2333G=
c.2112G= (p.Arg704=)
c.2085G= (p.Arg695=)
5g.148118493G>TCA446936817SPINK5c.2169G>T (p.Arg723=)
n.2333G>T
c.2112G>T (p.Arg704=)
c.2085G>T (p.Arg695=)
5g.148118494G>ACA3495887SPINK5c.2170G>A (p.Glu724Lys)
n.2334G>A
c.2113G>A (p.Glu705Lys)
c.2086G>A (p.Glu696Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148118494G>CCA361644837SPINK5c.2170G>C (p.Glu724Gln)
n.2334G>C
c.2113G>C (p.Glu705Gln)
c.2086G>C (p.Glu696Gln)
5g.148118494G=CA1589897179SPINK5c.2170G= (p.Glu724=)
n.2334G=
c.2113G= (p.Glu705=)
c.2086G= (p.Glu696=)
5g.148118494G>TCA361644839SPINK5c.2170G>T (p.Glu724Ter)
n.2334G>T
c.2113G>T (p.Glu705Ter)
c.2086G>T (p.Glu696Ter)
 gnomAD v4
5g.148118495A>CCA361644848SPINK5c.2171A>C (p.Glu724Ala)
n.2335A>C
c.2114A>C (p.Glu705Ala)
c.2087A>C (p.Glu696Ala)
5g.148118495A>GCA361644855SPINK5c.2171A>G (p.Glu724Gly)
n.2335A>G
c.2114A>G (p.Glu705Gly)
c.2087A>G (p.Glu696Gly)
5g.148118495A>TCA361644857SPINK5c.2171A>T (p.Glu724Val)
n.2335A>T
c.2114A>T (p.Glu705Val)
c.2087A>T (p.Glu696Val)
5g.148118496G>ACA446936818SPINK5c.2172G>A (p.Glu724=)
n.2336G>A
c.2115G>A (p.Glu705=)
c.2088G>A (p.Glu696=)
5g.148118496G>CCA3495888SPINK5c.2172G>C (p.Glu724Asp)
n.2336G>C
c.2115G>C (p.Glu705Asp)
c.2088G>C (p.Glu696Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118496G=CA1589897180SPINK5c.2172G= (p.Glu724=)
n.2336G=
c.2115G= (p.Glu705=)
c.2088G= (p.Glu696=)
5g.148118496G>TCA361644861SPINK5c.2172G>T (p.Glu724Asp)
n.2336G>T
c.2115G>T (p.Glu705Asp)
c.2088G>T (p.Glu696Asp)
5g.148118497A=CA1589897181SPINK5c.2173A= (p.Ser725=)
n.2337A=
c.2116A= (p.Ser706=)
c.2089A= (p.Ser697=)
5g.148118497A>CCA361644873SPINK5c.2173A>C (p.Ser725Arg)
n.2337A>C
c.2116A>C (p.Ser706Arg)
c.2089A>C (p.Ser697Arg)
5g.148118497A>GCA361644865SPINK5c.2173A>G (p.Ser725Gly)
n.2337A>G
c.2116A>G (p.Ser706Gly)
c.2089A>G (p.Ser697Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.148118497A>TCA361644869SPINK5c.2173A>T (p.Ser725Cys)
n.2337A>T
c.2116A>T (p.Ser706Cys)
c.2089A>T (p.Ser697Cys)
5g.148118498G>ACA361644876SPINK5c.2174G>A (p.Ser725Asn)
n.2338G>A
c.2117G>A (p.Ser706Asn)
c.2090G>A (p.Ser697Asn)
5g.148118498G>CCA361644879SPINK5c.2174G>C (p.Ser725Thr)
n.2338G>C
c.2117G>C (p.Ser706Thr)
c.2090G>C (p.Ser697Thr)
5g.148118498G>TCA361644881SPINK5c.2174G>T (p.Ser725Ile)
n.2338G>T
c.2117G>T (p.Ser706Ile)
c.2090G>T (p.Ser697Ile)
5g.148118499T>ACA361644883SPINK5c.2175T>A (p.Ser725Arg)
n.2339T>A
c.2118T>A (p.Ser706Arg)
c.2091T>A (p.Ser697Arg)
5g.148118499T>CCA446936819SPINK5c.2175T>C (p.Ser725=)
n.2339T>C
c.2118T>C (p.Ser706=)
c.2091T>C (p.Ser697=)
5g.148118499T>GCA361644888SPINK5c.2175T>G (p.Ser725Arg)
n.2339T>G
c.2118T>G (p.Ser706Arg)
c.2091T>G (p.Ser697Arg)
5g.148118500G>ACA361644891SPINK5c.2176G>A (p.Asp726Asn)
n.2340G>A
c.2119G>A (p.Asp707Asn)
c.2092G>A (p.Asp698Asn)
 COSMIC COSMIC
5g.148118500G>CCA361644893SPINK5c.2176G>C (p.Asp726His)
n.2340G>C
c.2119G>C (p.Asp707His)
c.2092G>C (p.Asp698His)
5g.148118500G>TCA361644895SPINK5c.2176G>T (p.Asp726Tyr)
n.2340G>T
c.2119G>T (p.Asp707Tyr)
c.2092G>T (p.Asp698Tyr)
5g.148118501A>CCA361644900SPINK5c.2177A>C (p.Asp726Ala)
n.2341A>C
c.2120A>C (p.Asp707Ala)
c.2093A>C (p.Asp698Ala)
5g.148118501A>GCA361644912SPINK5c.2177A>G (p.Asp726Gly)
n.2341A>G
c.2120A>G (p.Asp707Gly)
c.2093A>G (p.Asp698Gly)
5g.148118501A>TCA361644915SPINK5c.2177A>T (p.Asp726Val)
n.2341A>T
c.2120A>T (p.Asp707Val)
c.2093A>T (p.Asp698Val)
5g.148118502T>ACA361644919SPINK5c.2178T>A (p.Asp726Glu)
n.2342T>A
c.2121T>A (p.Asp707Glu)
c.2094T>A (p.Asp698Glu)
5g.148118502T>CCA446936820SPINK5c.2178T>C (p.Asp726=)
n.2342T>C
c.2121T>C (p.Asp707=)
c.2094T>C (p.Asp698=)
5g.148118502T>GCA361644922SPINK5c.2178T>G (p.Asp726Glu)
n.2342T>G
c.2121T>G (p.Asp707Glu)
c.2094T>G (p.Asp698Glu)
5g.148118503C>ACA361644929SPINK5c.2179C>A (p.Pro727Thr)
n.2343C>A
c.2122C>A (p.Pro708Thr)
c.2095C>A (p.Pro699Thr)
5g.148118503C>GCA361644923SPINK5c.2179C>G (p.Pro727Ala)
n.2343C>G
c.2122C>G (p.Pro708Ala)
c.2095C>G (p.Pro699Ala)
5g.148118503C>TCA361644926SPINK5c.2179C>T (p.Pro727Ser)
n.2343C>T
c.2122C>T (p.Pro708Ser)
c.2095C>T (p.Pro699Ser)
5g.148118504delCA2675857470SPINK5c.2180del (p.Pro727LeufsTer?)
n.2344del
c.2123del (p.Pro708LeufsTer?)
c.2096del (p.Pro699LeufsTer?)
 gnomAD v4
5g.148118504C>ACA361644939SPINK5c.2180C>A (p.Pro727His)
n.2344C>A
c.2123C>A (p.Pro708His)
c.2096C>A (p.Pro699His)
5g.148118504C>GCA361644941SPINK5c.2180C>G (p.Pro727Arg)
n.2344C>G
c.2123C>G (p.Pro708Arg)
c.2096C>G (p.Pro699Arg)
5g.148118504C>TCA361644944SPINK5c.2180C>T (p.Pro727Leu)
n.2344C>T
c.2123C>T (p.Pro708Leu)
c.2096C>T (p.Pro699Leu)
 gnomAD v4 COSMIC COSMIC
5g.148118505T>ACA446936823SPINK5c.2181T>A (p.Pro727=)
n.2345T>A
c.2124T>A (p.Pro708=)
c.2097T>A (p.Pro699=)
5g.148118505T>CCA446936821SPINK5c.2181T>C (p.Pro727=)
n.2345T>C
c.2124T>C (p.Pro708=)
c.2097T>C (p.Pro699=)
 gnomAD v4
5g.148118505T>GCA446936822SPINK5c.2181T>G (p.Pro727=)
n.2345T>G
c.2124T>G (p.Pro708=)
c.2097T>G (p.Pro699=)
5g.148118506G>ACA361644945SPINK5c.2182G>A (p.Val728Ile)
n.2346G>A
c.2125G>A (p.Val709Ile)
c.2098G>A (p.Val700Ile)
 gnomAD v4
5g.148118506G>CCA361644946SPINK5c.2182G>C (p.Val728Leu)
n.2346G>C
c.2125G>C (p.Val709Leu)
c.2098G>C (p.Val700Leu)
5g.148118506G>TCA361644947SPINK5c.2182G>T (p.Val728Leu)
n.2346G>T
c.2125G>T (p.Val709Leu)
c.2098G>T (p.Val700Leu)
5g.148118507T>ACA361644955SPINK5c.2183T>A (p.Val728Glu)
n.2347T>A
c.2126T>A (p.Val709Glu)
c.2099T>A (p.Val700Glu)
5g.148118507T>CCA361644953SPINK5c.2183T>C (p.Val728Ala)
n.2347T>C
c.2126T>C (p.Val709Ala)
c.2099T>C (p.Val700Ala)
5g.148118507T>GCA361644951SPINK5c.2183T>G (p.Val728Gly)
n.2347T>G
c.2126T>G (p.Val709Gly)
c.2099T>G (p.Val700Gly)
5g.148118507_148118517delCA2675857471SPINK5c.2183_2193del (p.Val728GlyfsTer13)
n.2347_2357del
c.2126_2136del (p.Val709GlyfsTer13)
c.2099_2109del (p.Val700GlyfsTer13)
 gnomAD v4
5g.148118508A>CCA446936824SPINK5c.2184A>C (p.Val728=)
n.2348A>C
c.2127A>C (p.Val709=)
c.2100A>C (p.Val700=)
5g.148118508A>GCA446936825SPINK5c.2184A>G (p.Val728=)
n.2348A>G
c.2127A>G (p.Val709=)
c.2100A>G (p.Val700=)
5g.148118508A>TCA446936826SPINK5c.2184A>T (p.Val728=)
n.2348A>T
c.2127A>T (p.Val709=)
c.2100A>T (p.Val700=)
5g.148118509C>ACA361644956SPINK5c.2185C>A (p.Arg729Ser)
n.2349C>A
c.2128C>A (p.Arg710Ser)
c.2101C>A (p.Arg701Ser)
 gnomAD v4
5g.148118509C=CA1589897182SPINK5c.2185C= (p.Arg729=)
n.2349C=
c.2128C= (p.Arg710=)
c.2101C= (p.Arg701=)
5g.148118509C>GCA361644957SPINK5c.2185C>G (p.Arg729Gly)
n.2349C>G
c.2128C>G (p.Arg710Gly)
c.2101C>G (p.Arg701Gly)
 dbSNP gnomAD v4
5g.148118509C>TCA3495889SPINK5c.2185C>T (p.Arg729Cys)
n.2349C>T
c.2128C>T (p.Arg710Cys)
c.2101C>T (p.Arg701Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118510G>ACA361644960SPINK5c.2186G>A (p.Arg729His)
n.2350G>A
c.2129G>A (p.Arg710His)
c.2102G>A (p.Arg701His)
 dbSNP gnomAD v4
5g.148118510G>CCA361644965SPINK5c.2186G>C (p.Arg729Pro)
n.2350G>C
c.2129G>C (p.Arg710Pro)
c.2102G>C (p.Arg701Pro)
5g.148118510G=CA1589897183SPINK5c.2186G= (p.Arg729=)
n.2350G=
c.2129G= (p.Arg710=)
c.2102G= (p.Arg701=)
5g.148118510G>TCA361644969SPINK5c.2186G>T (p.Arg729Leu)
n.2350G>T
c.2129G>T (p.Arg710Leu)
c.2102G>T (p.Arg701Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.148118511T>ACA446936828SPINK5c.2187T>A (p.Arg729=)
n.2351T>A
c.2130T>A (p.Arg710=)
c.2103T>A (p.Arg701=)
5g.148118511T>CCA446936827SPINK5c.2187T>C (p.Arg729=)
n.2351T>C
c.2130T>C (p.Arg710=)
c.2103T>C (p.Arg701=)
5g.148118511T>GCA446936829SPINK5c.2187T>G (p.Arg729=)
n.2351T>G
c.2130T>G (p.Arg710=)
c.2103T>G (p.Arg701=)
5g.148118512G>ACA3495890SPINK5c.2188G>A (p.Asp730Asn)
n.2352G>A
c.2131G>A (p.Asp711Asn)
c.2104G>A (p.Asp702Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148118512G>CCA361644973SPINK5c.2188G>C (p.Asp730His)
n.2352G>C
c.2131G>C (p.Asp711His)
c.2104G>C (p.Asp702His)
5g.148118512G=CA1589897184SPINK5c.2188G= (p.Asp730=)
n.2352G=
c.2131G= (p.Asp711=)
c.2104G= (p.Asp702=)
5g.148118512G>TCA361644970SPINK5c.2188G>T (p.Asp730Tyr)
n.2352G>T
c.2131G>T (p.Asp711Tyr)
c.2104G>T (p.Asp702Tyr)
5g.148118513A>CCA361644982SPINK5c.2189A>C (p.Asp730Ala)
n.2353A>C
c.2132A>C (p.Asp711Ala)
c.2105A>C (p.Asp702Ala)
5g.148118513A>GCA361644987SPINK5c.2189A>G (p.Asp730Gly)
n.2353A>G
c.2132A>G (p.Asp711Gly)
c.2105A>G (p.Asp702Gly)
 dbSNP
5g.148118513A>TCA361644990SPINK5c.2189A>T (p.Asp730Val)
n.2353A>T
c.2132A>T (p.Asp711Val)
c.2105A>T (p.Asp702Val)
5g.148118514T>ACA361644994SPINK5c.2190T>A (p.Asp730Glu)
n.2354T>A
c.2133T>A (p.Asp711Glu)
c.2106T>A (p.Asp702Glu)
5g.148118514T>CCA446936830SPINK5c.2190T>C (p.Asp730=)
n.2354T>C
c.2133T>C (p.Asp711=)
c.2106T>C (p.Asp702=)
 ClinVar dbSNP gnomAD v4
5g.148118514T>GCA361644996SPINK5c.2190T>G (p.Asp730Glu)
n.2354T>G
c.2133T>G (p.Asp711Glu)
c.2106T>G (p.Asp702Glu)
5g.148118514T=CA1589897185SPINK5c.2190T= (p.Asp730=)
n.2354T=
c.2133T= (p.Asp711=)
c.2106T= (p.Asp702=)
5g.148118515G>ACA361645000SPINK5c.2191G>A (p.Ala731Thr)
n.2355G>A
c.2134G>A (p.Ala712Thr)
c.2107G>A (p.Ala703Thr)
5g.148118515G>CCA361645002SPINK5c.2191G>C (p.Ala731Pro)
n.2355G>C
c.2134G>C (p.Ala712Pro)
c.2107G>C (p.Ala703Pro)
5g.148118515G>TCA361645003SPINK5c.2191G>T (p.Ala731Ser)
n.2355G>T
c.2134G>T (p.Ala712Ser)
c.2107G>T (p.Ala703Ser)
5g.148118516C>ACA361645004SPINK5c.2192C>A (p.Ala731Asp)
n.2356C>A
c.2135C>A (p.Ala712Asp)
c.2108C>A (p.Ala703Asp)
5g.148118516C>GCA361645005SPINK5c.2192C>G (p.Ala731Gly)
n.2356C>G
c.2135C>G (p.Ala712Gly)
c.2108C>G (p.Ala703Gly)
5g.148118516C>TCA361645006SPINK5c.2192C>T (p.Ala731Val)
n.2356C>T
c.2135C>T (p.Ala712Val)
c.2108C>T (p.Ala703Val)
5g.148118517T>ACA446936831SPINK5c.2193T>A (p.Ala731=)
n.2357T>A
c.2136T>A (p.Ala712=)
c.2109T>A (p.Ala703=)
5g.148118517T>CCA446936833SPINK5c.2193T>C (p.Ala731=)
n.2357T>C
c.2136T>C (p.Ala712=)
c.2109T>C (p.Ala703=)
5g.148118517T>GCA446936832SPINK5c.2193T>G (p.Ala731=)
n.2357T>G
c.2136T>G (p.Ala712=)
c.2109T>G (p.Ala703=)
5g.148118518G>ACA361645017SPINK5c.2194G>A (p.Asp732Asn)
n.2358G>A
c.2137G>A (p.Asp713Asn)
c.2110G>A (p.Asp704Asn)
5g.148118518G>CCA361645009SPINK5c.2194G>C (p.Asp732His)
n.2358G>C
c.2137G>C (p.Asp713His)
c.2110G>C (p.Asp704His)
 COSMIC COSMIC
5g.148118518G=CA1589897186SPINK5c.2194G= (p.Asp732=)
n.2358G=
c.2137G= (p.Asp713=)
c.2110G= (p.Asp704=)
5g.148118518G>TCA3495891SPINK5c.2194G>T (p.Asp732Tyr)
n.2358G>T
c.2137G>T (p.Asp713Tyr)
c.2110G>T (p.Asp704Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.148118519A=CA1589897187SPINK5c.2195A= (p.Asp732=)
n.2359A=
c.2138A= (p.Asp713=)
c.2111A= (p.Asp704=)
5g.148118519A>CCA361645025SPINK5c.2195A>C (p.Asp732Ala)
n.2359A>C
c.2138A>C (p.Asp713Ala)
c.2111A>C (p.Asp704Ala)
5g.148118519A>GCA361645027SPINK5c.2195A>G (p.Asp732Gly)
n.2359A>G
c.2138A>G (p.Asp713Gly)
c.2111A>G (p.Asp704Gly)
5g.148118519A>TCA361645030SPINK5c.2195A>T (p.Asp732Val)
n.2359A>T
c.2138A>T (p.Asp713Val)
c.2111A>T (p.Asp704Val)
 dbSNP gnomAD v2 gnomAD v4
5g.148118520T>ACA361645033SPINK5c.2196T>A (p.Asp732Glu)
n.2360T>A
c.2139T>A (p.Asp713Glu)
c.2112T>A (p.Asp704Glu)
5g.148118520T>CCA446936834SPINK5c.2196T>C (p.Asp732=)
n.2360T>C
c.2139T>C (p.Asp713=)
c.2112T>C (p.Asp704=)
 ClinVar gnomAD v4
5g.148118520T>GCA361645034SPINK5c.2196T>G (p.Asp732Glu)
n.2360T>G
c.2139T>G (p.Asp713Glu)
c.2112T>G (p.Asp704Glu)
5g.148118521G>ACA361645040SPINK5c.2197G>A (p.Gly733Ser)
n.2361G>A
c.2140G>A (p.Gly714Ser)
c.2113G>A (p.Gly705Ser)
 gnomAD v4
5g.148118521G>CCA361645037SPINK5c.2197G>C (p.Gly733Arg)
n.2361G>C
c.2140G>C (p.Gly714Arg)
c.2113G>C (p.Gly705Arg)
5g.148118521G>TCA361645035SPINK5c.2197G>T (p.Gly733Cys)
n.2361G>T
c.2140G>T (p.Gly714Cys)
c.2113G>T (p.Gly705Cys)
5g.148118522G>ACA361645050SPINK5c.2198G>A (p.Gly733Asp)
n.2362G>A
c.2141G>A (p.Gly714Asp)
c.2114G>A (p.Gly705Asp)
5g.148118522G>CCA361645055SPINK5c.2198G>C (p.Gly733Ala)
n.2362G>C
c.2141G>C (p.Gly714Ala)
c.2114G>C (p.Gly705Ala)
5g.148118522G>TCA361645057SPINK5c.2198G>T (p.Gly733Val)
n.2362G>T
c.2141G>T (p.Gly714Val)
c.2114G>T (p.Gly705Val)
5g.148118523C>ACA446936835SPINK5c.2199C>A (p.Gly733=)
n.2363C>A
c.2142C>A (p.Gly714=)
c.2115C>A (p.Gly705=)
5g.148118523C=CA1589897188SPINK5c.2199C= (p.Gly733=)
n.2363C=
c.2142C= (p.Gly714=)
c.2115C= (p.Gly705=)
5g.148118523C>GCA446936836SPINK5c.2199C>G (p.Gly733=)
n.2363C>G
c.2142C>G (p.Gly714=)
c.2115C>G (p.Gly705=)
 dbSNP gnomAD v4
5g.148118523C>TCA446936837SPINK5c.2199C>T (p.Gly733=)
n.2363C>T
c.2142C>T (p.Gly714=)
c.2115C>T (p.Gly705=)
5g.148118524A>CCA361645060SPINK5c.2200A>C (p.Lys734Gln)
n.2364A>C
c.2143A>C (p.Lys715Gln)
c.2116A>C (p.Lys706Gln)
5g.148118524A>GCA361645063SPINK5c.2200A>G (p.Lys734Glu)
n.2364A>G
c.2143A>G (p.Lys715Glu)
c.2116A>G (p.Lys706Glu)
5g.148118524A>TCA361645068SPINK5c.2200A>T (p.Lys734Ter)
n.2364A>T
c.2143A>T (p.Lys715Ter)
c.2116A>T (p.Lys706Ter)
5g.148118525A>CCA361645080SPINK5c.2201A>C (p.Lys734Thr)
n.2365A>C
c.2144A>C (p.Lys715Thr)
c.2117A>C (p.Lys706Thr)
5g.148118525A>GCA361645071SPINK5c.2201A>G (p.Lys734Arg)
n.2365A>G
c.2144A>G (p.Lys715Arg)
c.2117A>G (p.Lys706Arg)
5g.148118525A>TCA361645077SPINK5c.2201A>T (p.Lys734Ile)
n.2365A>T
c.2144A>T (p.Lys715Ile)
c.2117A>T (p.Lys706Ile)
5g.148118526A=CA1589897189SPINK5c.2202A= (p.Lys734=)
n.2366A=
c.2145A= (p.Lys715=)
c.2118A= (p.Lys706=)
5g.148118526A>CCA361645084SPINK5c.2202A>C (p.Lys734Asn)
n.2366A>C
c.2145A>C (p.Lys715Asn)
c.2118A>C (p.Lys706Asn)
5g.148118526A>GCA3495892SPINK5c.2202A>G (p.Lys734=)
n.2366A>G
c.2145A>G (p.Lys715=)
c.2118A>G (p.Lys706=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148118526A>TCA361645099SPINK5c.2202A>T (p.Lys734Asn)
n.2366A>T
c.2145A>T (p.Lys715Asn)
c.2118A>T (p.Lys706Asn)
5g.148118527T>ACA361645102SPINK5c.2203T>A (p.Ser735Thr)
n.2367T>A
c.2146T>A (p.Ser716Thr)
c.2119T>A (p.Ser707Thr)
5g.148118527T>CCA361645103SPINK5c.2203T>C (p.Ser735Pro)
n.2367T>C
c.2146T>C (p.Ser716Pro)
c.2119T>C (p.Ser707Pro)
5g.148118527T>GCA361645105SPINK5c.2203T>G (p.Ser735Ala)
n.2367T>G
c.2146T>G (p.Ser716Ala)
c.2119T>G (p.Ser707Ala)
5g.148118528C>ACA361645108SPINK5c.2204C>A (p.Ser735Ter)
n.2368C>A
c.2147C>A (p.Ser716Ter)
c.2120C>A (p.Ser707Ter)
 dbSNP gnomAD v3 gnomAD v4
5g.148118528C=CA1589897190SPINK5c.2204C= (p.Ser735=)
n.2368C=
c.2147C= (p.Ser716=)
c.2120C= (p.Ser707=)
5g.148118528C>GCA361645111SPINK5c.2204C>G (p.Ser735Trp)
n.2368C>G
c.2147C>G (p.Ser716Trp)
c.2120C>G (p.Ser707Trp)
5g.148118528C>TCA3495893SPINK5c.2204C>T (p.Ser735Leu)
n.2368C>T
c.2147C>T (p.Ser716Leu)
c.2120C>T (p.Ser707Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148118529G>ACA3495894SPINK5c.2205G>A (p.Ser735=)
n.2369G>A
c.2148G>A (p.Ser716=)
c.2121G>A (p.Ser707=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118529G>CCA446936838SPINK5c.2205G>C (p.Ser735=)
n.2369G>C
c.2148G>C (p.Ser716=)
c.2121G>C (p.Ser707=)
5g.148118529G=CA1589897191SPINK5c.2205G= (p.Ser735=)
n.2369G=
c.2148G= (p.Ser716=)
c.2121G= (p.Ser707=)
5g.148118529G>TCA446936839SPINK5c.2205G>T (p.Ser735=)
n.2369G>T
c.2148G>T (p.Ser716=)
c.2121G>T (p.Ser707=)
5g.148118530T>ACA361645119SPINK5c.2206T>A (p.Tyr736Asn)
n.2370T>A
c.2149T>A (p.Tyr717Asn)
c.2122T>A (p.Tyr708Asn)
5g.148118530T>CCA361645125SPINK5c.2206T>C (p.Tyr736His)
n.2370T>C
c.2149T>C (p.Tyr717His)
c.2122T>C (p.Tyr708His)
5g.148118530T>GCA361645127SPINK5c.2206T>G (p.Tyr736Asp)
n.2370T>G
c.2149T>G (p.Tyr717Asp)
c.2122T>G (p.Tyr708Asp)
5g.148118530_148118533delinsTACACA1589897192SPINK5c.2206_2209delinsTACA (p.Tyr736=)
n.2370_2373delinsTACA
c.2149_2152delinsTACA (p.Tyr717=)
c.2122_2125delinsTACA (p.Tyr708=)
5g.148118531A>CCA361645135SPINK5c.2207A>C (p.Tyr736Ser)
n.2371A>C
c.2150A>C (p.Tyr717Ser)
c.2123A>C (p.Tyr708Ser)
5g.148118531A>GCA361645144SPINK5c.2207A>G (p.Tyr736Cys)
n.2371A>G
c.2150A>G (p.Tyr717Cys)
c.2123A>G (p.Tyr708Cys)
5g.148118531A>TCA361645153SPINK5c.2207A>T (p.Tyr736Phe)
n.2371A>T
c.2150A>T (p.Tyr717Phe)
c.2123A>T (p.Tyr708Phe)
5g.148118535_148118537delCA3495895SPINK5c.2211_2213del (p.Asn738del)
n.2375_2377del
c.2154_2156del (p.Asn719del)
c.2127_2129del (p.Asn710del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118532C>ACA361645155SPINK5c.2208C>A (p.Tyr736Ter)
n.2372C>A
c.2151C>A (p.Tyr717Ter)
c.2124C>A (p.Tyr708Ter)
5g.148118532C>GCA361645160SPINK5c.2208C>G (p.Tyr736Ter)
n.2372C>G
c.2151C>G (p.Tyr717Ter)
c.2124C>G (p.Tyr708Ter)
5g.148118532C>TCA446936841SPINK5c.2208C>T (p.Tyr736=)
n.2372C>T
c.2151C>T (p.Tyr717=)
c.2124C>T (p.Tyr708=)
5g.148118533A=CA1589897193SPINK5c.2209A= (p.Asn737=)
n.2373A=
c.2152A= (p.Asn718=)
c.2125A= (p.Asn709=)
5g.148118533A>CCA361645165SPINK5c.2209A>C (p.Asn737His)
n.2373A>C
c.2152A>C (p.Asn718His)
c.2125A>C (p.Asn709His)
5g.148118533A>GCA3495896SPINK5c.2209A>G (p.Asn737Asp)
n.2373A>G
c.2152A>G (p.Asn718Asp)
c.2125A>G (p.Asn709Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.148118533A>TCA361645170SPINK5c.2209A>T (p.Asn737Tyr)
n.2373A>T
c.2152A>T (p.Asn718Tyr)
c.2125A>T (p.Asn709Tyr)
5g.148118534A>CCA361645193SPINK5c.2210A>C (p.Asn737Thr)
n.2374A>C
c.2153A>C (p.Asn718Thr)
c.2126A>C (p.Asn709Thr)
5g.148118534A>GCA361645191SPINK5c.2210A>G (p.Asn737Ser)
n.2374A>G
c.2153A>G (p.Asn718Ser)
c.2126A>G (p.Asn709Ser)
5g.148118534A>TCA361645192SPINK5c.2210A>T (p.Asn737Ile)
n.2374A>T
c.2153A>T (p.Asn718Ile)
c.2126A>T (p.Asn709Ile)
5g.148118535C>ACA361645198SPINK5c.2211C>A (p.Asn737Lys)
n.2375C>A
c.2154C>A (p.Asn718Lys)
c.2127C>A (p.Asn709Lys)
 gnomAD v4
5g.148118535C>GCA361645200SPINK5c.2211C>G (p.Asn737Lys)
n.2375C>G
c.2154C>G (p.Asn718Lys)
c.2127C>G (p.Asn709Lys)
5g.148118535C>TCA446936845SPINK5c.2211C>T (p.Asn737=)
n.2375C>T
c.2154C>T (p.Asn718=)
c.2127C>T (p.Asn709=)
5g.148118536A=CA1589897194SPINK5c.2212A= (p.Asn738=)
n.2376A=
c.2155A= (p.Asn719=)
c.2128A= (p.Asn710=)
5g.148118536A>CCA361645201SPINK5c.2212A>C (p.Asn738His)
n.2376A>C
c.2155A>C (p.Asn719His)
c.2128A>C (p.Asn710His)
 dbSNP
5g.148118536A>GCA361645205SPINK5c.2212A>G (p.Asn738Asp)
n.2376A>G
c.2155A>G (p.Asn719Asp)
c.2128A>G (p.Asn710Asp)
5g.148118536A>TCA361645207SPINK5c.2212A>T (p.Asn738Tyr)
n.2376A>T
c.2155A>T (p.Asn719Tyr)
c.2128A>T (p.Asn710Tyr)
5g.148118537A=CA1589897195SPINK5c.2213A= (p.Asn738=)
n.2377A=
c.2156A= (p.Asn719=)
c.2129A= (p.Asn710=)
5g.148118537A>CCA361645211SPINK5c.2213A>C (p.Asn738Thr)
n.2377A>C
c.2156A>C (p.Asn719Thr)
c.2129A>C (p.Asn710Thr)
5g.148118537A>GCA3495897SPINK5c.2213A>G (p.Asn738Ser)
n.2377A>G
c.2156A>G (p.Asn719Ser)
c.2129A>G (p.Asn710Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148118537A>TCA361645214SPINK5c.2213A>T (p.Asn738Ile)
n.2377A>T
c.2156A>T (p.Asn719Ile)
c.2129A>T (p.Asn710Ile)
5g.148118538T>ACA361645222SPINK5c.2214T>A (p.Asn738Lys)
n.2378T>A
c.2157T>A (p.Asn719Lys)
c.2130T>A (p.Asn710Lys)
5g.148118538T>CCA446936850SPINK5c.2214T>C (p.Asn738=)
n.2378T>C
c.2157T>C (p.Asn719=)
c.2130T>C (p.Asn710=)
5g.148118538T>GCA361645237SPINK5c.2214T>G (p.Asn738Lys)
n.2378T>G
c.2157T>G (p.Asn719Lys)
c.2130T>G (p.Asn710Lys)
5g.148118539C>ACA361645238SPINK5c.2215C>A (p.Gln739Lys)
n.2379C>A
c.2158C>A (p.Gln720Lys)
c.2131C>A (p.Gln711Lys)
5g.148118539C=CA1589897196SPINK5c.2215C= (p.Gln739=)
n.2379C=
c.2158C= (p.Gln720=)
c.2131C= (p.Gln711=)
5g.148118539C>GCA361645241SPINK5c.2215C>G (p.Gln739Glu)
n.2379C>G
c.2158C>G (p.Gln720Glu)
c.2131C>G (p.Gln711Glu)
5g.148118539C>TCA3495898SPINK5c.2215C>T (p.Gln739Ter)
n.2379C>T
c.2158C>T (p.Gln720Ter)
c.2131C>T (p.Gln711Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.148118540A>CCA361645244SPINK5c.2216A>C (p.Gln739Pro)
n.2380A>C
c.2159A>C (p.Gln720Pro)
c.2132A>C (p.Gln711Pro)
5g.148118540A>GCA361645250SPINK5c.2216A>G (p.Gln739Arg)
n.2380A>G
c.2159A>G (p.Gln720Arg)
c.2132A>G (p.Gln711Arg)
 gnomAD v4
5g.148118540A>TCA361645253SPINK5c.2216A>T (p.Gln739Leu)
n.2380A>T
c.2159A>T (p.Gln720Leu)
c.2132A>T (p.Gln711Leu)
5g.148118540_148118541delCA2539831975SPINK5c.2216_2217del (p.Gln739LeufsTer5)
n.2380_2381del
c.2159_2160del (p.Gln720LeufsTer5)
c.2132_2133del (p.Gln711LeufsTer5)
5g.148118541G>ACA446936854SPINK5c.2217G>A (p.Gln739=)
n.2381G>A
c.2160G>A (p.Gln720=)
c.2133G>A (p.Gln711=)
 ClinVar dbSNP gnomAD v4
5g.148118541G>CCA361645255SPINK5c.2217G>C (p.Gln739His)
n.2381G>C
c.2160G>C (p.Gln720His)
c.2133G>C (p.Gln711His)
 ClinVar dbSNP
5g.148118541G=CA1589897197SPINK5c.2217G= (p.Gln739=)
n.2381G=
c.2160G= (p.Gln720=)
c.2133G= (p.Gln711=)
5g.148118541G>TCA361645259SPINK5c.2217G>T (p.Gln739His)
n.2381G>T
c.2160G>T (p.Gln720His)
c.2133G>T (p.Gln711His)
5g.148118542T>ACA361645262SPINK5c.2218T>A (p.Cys740Ser)
n.2382T>A
c.2161T>A (p.Cys721Ser)
c.2134T>A (p.Cys712Ser)
5g.148118542T>CCA361645273SPINK5c.2218T>C (p.Cys740Arg)
n.2382T>C
c.2161T>C (p.Cys721Arg)
c.2134T>C (p.Cys712Arg)
5g.148118542T>GCA361645269SPINK5c.2218T>G (p.Cys740Gly)
n.2382T>G
c.2161T>G (p.Cys721Gly)
c.2134T>G (p.Cys712Gly)
5g.148118543G>ACA361645277SPINK5c.2219G>A (p.Cys740Tyr)
n.2383G>A
c.2162G>A (p.Cys721Tyr)
c.2135G>A (p.Cys712Tyr)
 dbSNP
5g.148118543G>CCA361645291SPINK5c.2219G>C (p.Cys740Ser)
n.2383G>C
c.2162G>C (p.Cys721Ser)
c.2135G>C (p.Cys712Ser)
5g.148118543G=CA1589897198SPINK5c.2219G= (p.Cys740=)
n.2383G=
c.2162G= (p.Cys721=)
c.2135G= (p.Cys712=)
5g.148118543G>TCA361645287SPINK5c.2219G>T (p.Cys740Phe)
n.2383G>T
c.2162G>T (p.Cys721Phe)
c.2135G>T (p.Cys712Phe)
5g.148118544T>ACA361645294SPINK5c.2220T>A (p.Cys740Ter)
n.2384T>A
c.2163T>A (p.Cys721Ter)
c.2136T>A (p.Cys712Ter)
5g.148118544T>CCA446936856SPINK5c.2220T>C (p.Cys740=)
n.2384T>C
c.2163T>C (p.Cys721=)
c.2136T>C (p.Cys712=)
5g.148118544T>GCA361645296SPINK5c.2220T>G (p.Cys740Trp)
n.2384T>G
c.2163T>G (p.Cys721Trp)
c.2136T>G (p.Cys712Trp)
5g.148118545A>CCA361645299SPINK5c.2221A>C (p.Thr741Pro)
n.2385A>C
c.2164A>C (p.Thr722Pro)
c.2137A>C (p.Thr713Pro)
5g.148118545A>GCA361645304SPINK5c.2221A>G (p.Thr741Ala)
n.2385A>G
c.2164A>G (p.Thr722Ala)
c.2137A>G (p.Thr713Ala)
5g.148118545A>TCA361645307SPINK5c.2221A>T (p.Thr741Ser)
n.2385A>T
c.2164A>T (p.Thr722Ser)
c.2137A>T (p.Thr713Ser)
5g.148118546C>ACA361645319SPINK5c.2222C>A (p.Thr741Asn)
n.2386C>A
c.2165C>A (p.Thr722Asn)
c.2138C>A (p.Thr713Asn)
5g.148118546C>GCA361645317SPINK5c.2222C>G (p.Thr741Ser)
n.2386C>G
c.2165C>G (p.Thr722Ser)
c.2138C>G (p.Thr713Ser)
5g.148118546C>TCA361645309SPINK5c.2222C>T (p.Thr741Ile)
n.2386C>T
c.2165C>T (p.Thr722Ile)
c.2138C>T (p.Thr713Ile)
5g.148118547C>ACA446936861SPINK5c.2223C>A (p.Thr741=)
n.2387C>A
c.2166C>A (p.Thr722=)
c.2139C>A (p.Thr713=)
 ClinVar
5g.148118547C>GCA446936863SPINK5c.2223C>G (p.Thr741=)
n.2387C>G
c.2166C>G (p.Thr722=)
c.2139C>G (p.Thr713=)
5g.148118547C>TCA446936865SPINK5c.2223C>T (p.Thr741=)
n.2387C>T
c.2166C>T (p.Thr722=)
c.2139C>T (p.Thr713=)
5g.148118548A>CCA361645322SPINK5c.2224A>C (p.Met742Leu)
n.2388A>C
c.2167A>C (p.Met723Leu)
c.2140A>C (p.Met714Leu)
5g.148118548A>GCA361645330SPINK5c.2224A>G (p.Met742Val)
n.2388A>G
c.2167A>G (p.Met723Val)
c.2140A>G (p.Met714Val)
 gnomAD v4
5g.148118548A>TCA361645333SPINK5c.2224A>T (p.Met742Leu)
n.2388A>T
c.2167A>T (p.Met723Leu)
c.2140A>T (p.Met714Leu)
5g.148118549T>ACA361645337SPINK5c.2225T>A (p.Met742Lys)
n.2389T>A
c.2168T>A (p.Met723Lys)
c.2141T>A (p.Met714Lys)
5g.148118549T>CCA361645339SPINK5c.2225T>C (p.Met742Thr)
n.2389T>C
c.2168T>C (p.Met723Thr)
c.2141T>C (p.Met714Thr)
5g.148118549T>GCA361645342SPINK5c.2225T>G (p.Met742Arg)
n.2389T>G
c.2168T>G (p.Met723Arg)
c.2141T>G (p.Met714Arg)
5g.148118550G>ACA361645345SPINK5c.2226G>A (p.Met742Ile)
n.2390G>A
c.2169G>A (p.Met723Ile)
c.2142G>A (p.Met714Ile)
 gnomAD v4
5g.148118550G>CCA361645350SPINK5c.2226G>C (p.Met742Ile)
n.2390G>C
c.2169G>C (p.Met723Ile)
c.2142G>C (p.Met714Ile)
5g.148118550G>TCA361645348SPINK5c.2226G>T (p.Met742Ile)
n.2390G>T
c.2169G>T (p.Met723Ile)
c.2142G>T (p.Met714Ile)
 gnomAD v4
5g.148118551T>ACA361645352SPINK5c.2227T>A (p.Cys743Ser)
n.2391T>A
c.2170T>A (p.Cys724Ser)
c.2143T>A (p.Cys715Ser)
5g.148118551T>CCA361645353SPINK5c.2227T>C (p.Cys743Arg)
n.2391T>C
c.2170T>C (p.Cys724Arg)
c.2143T>C (p.Cys715Arg)
5g.148118551T>GCA361645356SPINK5c.2227T>G (p.Cys743Gly)
n.2391T>G
c.2170T>G (p.Cys724Gly)
c.2143T>G (p.Cys715Gly)
 dbSNP
5g.148118551T=CA1589897199SPINK5c.2227T= (p.Cys743=)
n.2391T=
c.2170T= (p.Cys724=)
c.2143T= (p.Cys715=)
5g.148118552G>ACA361645359SPINK5c.2228G>A (p.Cys743Tyr)
n.2392G>A
c.2171G>A (p.Cys724Tyr)
c.2144G>A (p.Cys715Tyr)
 ClinVar dbSNP gnomAD v4
5g.148118552G>CCA361645364SPINK5c.2228G>C (p.Cys743Ser)
n.2392G>C
c.2171G>C (p.Cys724Ser)
c.2144G>C (p.Cys715Ser)
 gnomAD v4
5g.148118552G=CA1589897200SPINK5c.2228G= (p.Cys743=)
n.2392G=
c.2171G= (p.Cys724=)
c.2144G= (p.Cys715=)
5g.148118552G>TCA361645366SPINK5c.2228G>T (p.Cys743Phe)
n.2392G>T
c.2171G>T (p.Cys724Phe)
c.2144G>T (p.Cys715Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.148118553T>ACA361645367SPINK5c.2229T>A (p.Cys743Ter)
n.2393T>A
c.2172T>A (p.Cys724Ter)
c.2145T>A (p.Cys715Ter)
5g.148118553T>CCA446936869SPINK5c.2229T>C (p.Cys743=)
n.2393T>C
c.2172T>C (p.Cys724=)
c.2145T>C (p.Cys715=)
5g.148118553T>GCA361645377SPINK5c.2229T>G (p.Cys743Trp)
n.2393T>G
c.2172T>G (p.Cys724Trp)
c.2145T>G (p.Cys715Trp)
 gnomAD v4
5g.148118554A>CCA361645380SPINK5c.2230A>C (p.Lys744Gln)
n.2394A>C
c.2173A>C (p.Lys725Gln)
c.2146A>C (p.Lys716Gln)
5g.148118554A>GCA361645384SPINK5c.2230A>G (p.Lys744Glu)
n.2394A>G
c.2173A>G (p.Lys725Glu)
c.2146A>G (p.Lys716Glu)
 gnomAD v4
5g.148118554A>TCA361645387SPINK5c.2230A>T (p.Lys744Ter)
n.2394A>T
c.2173A>T (p.Lys725Ter)
c.2146A>T (p.Lys716Ter)
5g.148118555A>CCA361645391SPINK5c.2231A>C (p.Lys744Thr)
n.2395A>C
c.2174A>C (p.Lys725Thr)
c.2147A>C (p.Lys716Thr)
5g.148118555A>GCA361645399SPINK5c.2231A>G (p.Lys744Arg)
n.2395A>G
c.2174A>G (p.Lys725Arg)
c.2147A>G (p.Lys716Arg)
5g.148118555A>TCA361645396SPINK5c.2231A>T (p.Lys744Ile)
n.2395A>T
c.2174A>T (p.Lys725Ile)
c.2147A>T (p.Lys716Ile)
5g.148118556A>CCA361645401SPINK5c.2232A>C (p.Lys744Asn)
n.2396A>C
c.2175A>C (p.Lys725Asn)
c.2148A>C (p.Lys716Asn)
5g.148118556A>GCA446936872SPINK5c.2232A>G (p.Lys744=)
n.2396A>G
c.2175A>G (p.Lys725=)
c.2148A>G (p.Lys716=)
 gnomAD v4
5g.148118556A>TCA361645403SPINK5c.2232A>T (p.Lys744Asn)
n.2396A>T
c.2175A>T (p.Lys725Asn)
c.2148A>T (p.Lys716Asn)

Number of alleles fetched