Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.4788008T>ACA351640559ITPR1c.6688T>A (n.6688T>A)
c.6653T>A (p.Phe2218Tyr)
c.6632T>A (p.Phe2211Tyr)
c.6533T>A (p.Phe2178Tyr)
c.6488T>A (p.Phe2163Tyr)
n.569T>A
c.997-18095T>A (n.997-18095T>A)
c.2576T>A
n.4181T>A
c.3012T>A
c.4439T>A (p.Phe1480Tyr)
c.3585T>A
c.6650T>A (p.Phe2217Tyr)
c.6605T>A (p.Phe2202Tyr)
c.447-58131T>A
c.3979T>A
n.511T>A
c.6677T>A (p.Phe2226Tyr)
n.1725T>A
n.239T>A
n.4162T>A
c.6635T>A (p.Phe2212Tyr)
c.6608T>A (p.Phe2203Tyr)
c.6560T>A (p.Phe2187Tyr)
c.6611T>A (p.Phe2204Tyr)
c.6680T>A (p.Phe2227Tyr)
c.6647T>A (p.Phe2216Tyr)
c.6644T>A (p.Phe2215Tyr)
c.6569T>A (p.Phe2190Tyr)
3g.4788008T>CCA351640560ITPR1c.6688T>C (n.6688T>C)
c.6653T>C (p.Phe2218Ser)
c.6632T>C (p.Phe2211Ser)
c.6533T>C (p.Phe2178Ser)
c.6488T>C (p.Phe2163Ser)
n.569T>C
c.997-18095T>C (n.997-18095T>C)
c.2576T>C
n.4181T>C
c.3012T>C
c.4439T>C (p.Phe1480Ser)
c.3585T>C
c.6650T>C (p.Phe2217Ser)
c.6605T>C (p.Phe2202Ser)
c.447-58131T>C
c.3979T>C
n.511T>C
c.6677T>C (p.Phe2226Ser)
n.1725T>C
n.239T>C
n.4162T>C
c.6635T>C (p.Phe2212Ser)
c.6608T>C (p.Phe2203Ser)
c.6560T>C (p.Phe2187Ser)
c.6611T>C (p.Phe2204Ser)
c.6680T>C (p.Phe2227Ser)
c.6647T>C (p.Phe2216Ser)
c.6644T>C (p.Phe2215Ser)
c.6569T>C (p.Phe2190Ser)
3g.4788008T>GCA351640561ITPR1c.6688T>G (n.6688T>G)
c.6653T>G (p.Phe2218Cys)
c.6632T>G (p.Phe2211Cys)
c.6533T>G (p.Phe2178Cys)
c.6488T>G (p.Phe2163Cys)
n.569T>G
c.997-18095T>G (n.997-18095T>G)
c.2576T>G
n.4181T>G
c.3012T>G
c.4439T>G (p.Phe1480Cys)
c.3585T>G
c.6650T>G (p.Phe2217Cys)
c.6605T>G (p.Phe2202Cys)
c.447-58131T>G
c.3979T>G
n.511T>G
c.6677T>G (p.Phe2226Cys)
n.1725T>G
n.239T>G
n.4162T>G
c.6635T>G (p.Phe2212Cys)
c.6608T>G (p.Phe2203Cys)
c.6560T>G (p.Phe2187Cys)
c.6611T>G (p.Phe2204Cys)
c.6680T>G (p.Phe2227Cys)
c.6647T>G (p.Phe2216Cys)
c.6644T>G (p.Phe2215Cys)
c.6569T>G (p.Phe2190Cys)
3g.4788009C>ACA351640562ITPR1c.6689C>A (n.6689C>A)
c.6654C>A (p.Phe2218Leu)
c.6633C>A (p.Phe2211Leu)
c.6534C>A (p.Phe2178Leu)
c.6489C>A (p.Phe2163Leu)
n.570C>A
c.997-18094C>A (n.997-18094C>A)
c.2577C>A
n.4182C>A
c.3013C>A
c.4440C>A (p.Phe1480Leu)
c.3586C>A
c.6651C>A (p.Phe2217Leu)
c.6606C>A (p.Phe2202Leu)
c.447-58130C>A
c.3980C>A
n.512C>A
c.6678C>A (p.Phe2226Leu)
n.1726C>A
n.240C>A
n.4163C>A
c.6636C>A (p.Phe2212Leu)
c.6609C>A (p.Phe2203Leu)
c.6561C>A (p.Phe2187Leu)
c.6612C>A (p.Phe2204Leu)
c.6681C>A (p.Phe2227Leu)
c.6648C>A (p.Phe2216Leu)
c.6645C>A (p.Phe2215Leu)
c.6570C>A (p.Phe2190Leu)
3g.4788009C>GCA351640563ITPR1c.6689C>G (n.6689C>G)
c.6654C>G (p.Phe2218Leu)
c.6633C>G (p.Phe2211Leu)
c.6534C>G (p.Phe2178Leu)
c.6489C>G (p.Phe2163Leu)
n.570C>G
c.997-18094C>G (n.997-18094C>G)
c.2577C>G
n.4182C>G
c.3013C>G
c.4440C>G (p.Phe1480Leu)
c.3586C>G
c.6651C>G (p.Phe2217Leu)
c.6606C>G (p.Phe2202Leu)
c.447-58130C>G
c.3980C>G
n.512C>G
c.6678C>G (p.Phe2226Leu)
n.1726C>G
n.240C>G
n.4163C>G
c.6636C>G (p.Phe2212Leu)
c.6609C>G (p.Phe2203Leu)
c.6561C>G (p.Phe2187Leu)
c.6612C>G (p.Phe2204Leu)
c.6681C>G (p.Phe2227Leu)
c.6648C>G (p.Phe2216Leu)
c.6645C>G (p.Phe2215Leu)
c.6570C>G (p.Phe2190Leu)
3g.4788009C>TCA432322744ITPR1c.6689C>T (n.6689C>T)
c.6654C>T (p.Phe2218=)
c.6633C>T (p.Phe2211=)
c.6534C>T (p.Phe2178=)
c.6489C>T (p.Phe2163=)
n.570C>T
c.997-18094C>T (n.997-18094C>T)
c.2577C>T
n.4182C>T
c.3013C>T
c.4440C>T (p.Phe1480=)
c.3586C>T
c.6651C>T (p.Phe2217=)
c.6606C>T (p.Phe2202=)
c.447-58130C>T
c.3980C>T
n.512C>T
c.6678C>T (p.Phe2226=)
n.1726C>T
n.240C>T
n.4163C>T
c.6636C>T (p.Phe2212=)
c.6609C>T (p.Phe2203=)
c.6561C>T (p.Phe2187=)
c.6612C>T (p.Phe2204=)
c.6681C>T (p.Phe2227=)
c.6648C>T (p.Phe2216=)
c.6645C>T (p.Phe2215=)
c.6570C>T (p.Phe2190=)
3g.4788010C>ACA351640564ITPR1c.6690C>A (n.6690C>A)
c.6655C>A (p.Leu2219Ile)
c.6634C>A (p.Leu2212Ile)
c.6535C>A (p.Leu2179Ile)
c.6490C>A (p.Leu2164Ile)
n.571C>A
c.997-18093C>A (n.997-18093C>A)
c.2578C>A
n.4183C>A
c.3014C>A
c.4441C>A (p.Leu1481Ile)
c.3587C>A
c.6652C>A (p.Leu2218Ile)
c.6607C>A (p.Leu2203Ile)
c.447-58129C>A
c.3981C>A
n.513C>A
c.6679C>A (p.Leu2227Ile)
n.1727C>A
n.241C>A
n.4164C>A
c.6637C>A (p.Leu2213Ile)
c.6610C>A (p.Leu2204Ile)
c.6562C>A (p.Leu2188Ile)
c.6613C>A (p.Leu2205Ile)
c.6682C>A (p.Leu2228Ile)
c.6649C>A (p.Leu2217Ile)
c.6646C>A (p.Leu2216Ile)
c.6571C>A (p.Leu2191Ile)
3g.4788010C>GCA351640565ITPR1c.6690C>G (n.6690C>G)
c.6655C>G (p.Leu2219Val)
c.6634C>G (p.Leu2212Val)
c.6535C>G (p.Leu2179Val)
c.6490C>G (p.Leu2164Val)
n.571C>G
c.997-18093C>G (n.997-18093C>G)
c.2578C>G
n.4183C>G
c.3014C>G
c.4441C>G (p.Leu1481Val)
c.3587C>G
c.6652C>G (p.Leu2218Val)
c.6607C>G (p.Leu2203Val)
c.447-58129C>G
c.3981C>G
n.513C>G
c.6679C>G (p.Leu2227Val)
n.1727C>G
n.241C>G
n.4164C>G
c.6637C>G (p.Leu2213Val)
c.6610C>G (p.Leu2204Val)
c.6562C>G (p.Leu2188Val)
c.6613C>G (p.Leu2205Val)
c.6682C>G (p.Leu2228Val)
c.6649C>G (p.Leu2217Val)
c.6646C>G (p.Leu2216Val)
c.6571C>G (p.Leu2191Val)
 gnomAD v4
3g.4788010C>TCA432322748ITPR1c.6690C>T (n.6690C>T)
c.6655C>T (p.Leu2219=)
c.6634C>T (p.Leu2212=)
c.6535C>T (p.Leu2179=)
c.6490C>T (p.Leu2164=)
n.571C>T
c.997-18093C>T (n.997-18093C>T)
c.2578C>T
n.4183C>T
c.3014C>T
c.4441C>T (p.Leu1481=)
c.3587C>T
c.6652C>T (p.Leu2218=)
c.6607C>T (p.Leu2203=)
c.447-58129C>T
c.3981C>T
n.513C>T
c.6679C>T (p.Leu2227=)
n.1727C>T
n.241C>T
n.4164C>T
c.6637C>T (p.Leu2213=)
c.6610C>T (p.Leu2204=)
c.6562C>T (p.Leu2188=)
c.6613C>T (p.Leu2205=)
c.6682C>T (p.Leu2228=)
c.6649C>T (p.Leu2217=)
c.6646C>T (p.Leu2216=)
c.6571C>T (p.Leu2191=)
3g.4788011T>ACA351640568ITPR1c.6691T>A (n.6691T>A)
c.6656T>A (p.Leu2219Gln)
c.6635T>A (p.Leu2212Gln)
c.6536T>A (p.Leu2179Gln)
c.6491T>A (p.Leu2164Gln)
n.572T>A
c.997-18092T>A (n.997-18092T>A)
c.2579T>A
n.4184T>A
c.3015T>A
c.4442T>A (p.Leu1481Gln)
c.3588T>A
c.6653T>A (p.Leu2218Gln)
c.6608T>A (p.Leu2203Gln)
c.447-58128T>A
c.3982T>A
n.514T>A
c.6680T>A (p.Leu2227Gln)
n.1728T>A
n.242T>A
n.4165T>A
c.6638T>A (p.Leu2213Gln)
c.6611T>A (p.Leu2204Gln)
c.6563T>A (p.Leu2188Gln)
c.6614T>A (p.Leu2205Gln)
c.6683T>A (p.Leu2228Gln)
c.6650T>A (p.Leu2217Gln)
c.6647T>A (p.Leu2216Gln)
c.6572T>A (p.Leu2191Gln)
3g.4788011T>CCA351640567ITPR1c.6691T>C (n.6691T>C)
c.6656T>C (p.Leu2219Pro)
c.6635T>C (p.Leu2212Pro)
c.6536T>C (p.Leu2179Pro)
c.6491T>C (p.Leu2164Pro)
n.572T>C
c.997-18092T>C (n.997-18092T>C)
c.2579T>C
n.4184T>C
c.3015T>C
c.4442T>C (p.Leu1481Pro)
c.3588T>C
c.6653T>C (p.Leu2218Pro)
c.6608T>C (p.Leu2203Pro)
c.447-58128T>C
c.3982T>C
n.514T>C
c.6680T>C (p.Leu2227Pro)
n.1728T>C
n.242T>C
n.4165T>C
c.6638T>C (p.Leu2213Pro)
c.6611T>C (p.Leu2204Pro)
c.6563T>C (p.Leu2188Pro)
c.6614T>C (p.Leu2205Pro)
c.6683T>C (p.Leu2228Pro)
c.6650T>C (p.Leu2217Pro)
c.6647T>C (p.Leu2216Pro)
c.6572T>C (p.Leu2191Pro)
3g.4788011T>GCA351640566ITPR1c.6691T>G (n.6691T>G)
c.6656T>G (p.Leu2219Arg)
c.6635T>G (p.Leu2212Arg)
c.6536T>G (p.Leu2179Arg)
c.6491T>G (p.Leu2164Arg)
n.572T>G
c.997-18092T>G (n.997-18092T>G)
c.2579T>G
n.4184T>G
c.3015T>G
c.4442T>G (p.Leu1481Arg)
c.3588T>G
c.6653T>G (p.Leu2218Arg)
c.6608T>G (p.Leu2203Arg)
c.447-58128T>G
c.3982T>G
n.514T>G
c.6680T>G (p.Leu2227Arg)
n.1728T>G
n.242T>G
n.4165T>G
c.6638T>G (p.Leu2213Arg)
c.6611T>G (p.Leu2204Arg)
c.6563T>G (p.Leu2188Arg)
c.6614T>G (p.Leu2205Arg)
c.6683T>G (p.Leu2228Arg)
c.6650T>G (p.Leu2217Arg)
c.6647T>G (p.Leu2216Arg)
c.6572T>G (p.Leu2191Arg)
3g.4788012A>CCA432322763ITPR1c.6692A>C (n.6692A>C)
c.6657A>C (p.Leu2219=)
c.6636A>C (p.Leu2212=)
c.6537A>C (p.Leu2179=)
c.6492A>C (p.Leu2164=)
n.573A>C
c.997-18091A>C (n.997-18091A>C)
c.2580A>C
n.4185A>C
c.3016A>C
c.4443A>C (p.Leu1481=)
c.3589A>C
c.6654A>C (p.Leu2218=)
c.6609A>C (p.Leu2203=)
c.447-58127A>C
c.3983A>C
n.515A>C
c.6681A>C (p.Leu2227=)
n.1729A>C
n.243A>C
n.4166A>C
c.6639A>C (p.Leu2213=)
c.6612A>C (p.Leu2204=)
c.6564A>C (p.Leu2188=)
c.6615A>C (p.Leu2205=)
c.6684A>C (p.Leu2228=)
c.6651A>C (p.Leu2217=)
c.6648A>C (p.Leu2216=)
c.6573A>C (p.Leu2191=)
3g.4788012A>GCA432322766ITPR1c.6692A>G (n.6692A>G)
c.6657A>G (p.Leu2219=)
c.6636A>G (p.Leu2212=)
c.6537A>G (p.Leu2179=)
c.6492A>G (p.Leu2164=)
n.573A>G
c.997-18091A>G (n.997-18091A>G)
c.2580A>G
n.4185A>G
c.3016A>G
c.4443A>G (p.Leu1481=)
c.3589A>G
c.6654A>G (p.Leu2218=)
c.6609A>G (p.Leu2203=)
c.447-58127A>G
c.3983A>G
n.515A>G
c.6681A>G (p.Leu2227=)
n.1729A>G
n.243A>G
n.4166A>G
c.6639A>G (p.Leu2213=)
c.6612A>G (p.Leu2204=)
c.6564A>G (p.Leu2188=)
c.6615A>G (p.Leu2205=)
c.6684A>G (p.Leu2228=)
c.6651A>G (p.Leu2217=)
c.6648A>G (p.Leu2216=)
c.6573A>G (p.Leu2191=)
 gnomAD v4
3g.4788012A>TCA432322771ITPR1c.6692A>T (n.6692A>T)
c.6657A>T (p.Leu2219=)
c.6636A>T (p.Leu2212=)
c.6537A>T (p.Leu2179=)
c.6492A>T (p.Leu2164=)
n.573A>T
c.997-18091A>T (n.997-18091A>T)
c.2580A>T
n.4185A>T
c.3016A>T
c.4443A>T (p.Leu1481=)
c.3589A>T
c.6654A>T (p.Leu2218=)
c.6609A>T (p.Leu2203=)
c.447-58127A>T
c.3983A>T
n.515A>T
c.6681A>T (p.Leu2227=)
n.1729A>T
n.243A>T
n.4166A>T
c.6639A>T (p.Leu2213=)
c.6612A>T (p.Leu2204=)
c.6564A>T (p.Leu2188=)
c.6615A>T (p.Leu2205=)
c.6684A>T (p.Leu2228=)
c.6651A>T (p.Leu2217=)
c.6648A>T (p.Leu2216=)
c.6573A>T (p.Leu2191=)
3g.4788013A>CCA351640569ITPR1c.6693A>C (n.6693A>C)
c.6658A>C (p.Thr2220Pro)
c.6637A>C (p.Thr2213Pro)
c.6538A>C (p.Thr2180Pro)
c.6493A>C (p.Thr2165Pro)
n.574A>C
c.997-18090A>C (n.997-18090A>C)
c.2581A>C
n.4186A>C
c.3017A>C
c.4444A>C (p.Thr1482Pro)
c.3590A>C
c.6655A>C (p.Thr2219Pro)
c.6610A>C (p.Thr2204Pro)
c.447-58126A>C
c.3984A>C
n.516A>C
c.6682A>C (p.Thr2228Pro)
n.1730A>C
n.244A>C
n.4167A>C
c.6640A>C (p.Thr2214Pro)
c.6613A>C (p.Thr2205Pro)
c.6565A>C (p.Thr2189Pro)
c.6616A>C (p.Thr2206Pro)
c.6685A>C (p.Thr2229Pro)
c.6652A>C (p.Thr2218Pro)
c.6649A>C (p.Thr2217Pro)
c.6574A>C (p.Thr2192Pro)
3g.4788013A>GCA351640570ITPR1c.6693A>G (n.6693A>G)
c.6658A>G (p.Thr2220Ala)
c.6637A>G (p.Thr2213Ala)
c.6538A>G (p.Thr2180Ala)
c.6493A>G (p.Thr2165Ala)
n.574A>G
c.997-18090A>G (n.997-18090A>G)
c.2581A>G
n.4186A>G
c.3017A>G
c.4444A>G (p.Thr1482Ala)
c.3590A>G
c.6655A>G (p.Thr2219Ala)
c.6610A>G (p.Thr2204Ala)
c.447-58126A>G
c.3984A>G
n.516A>G
c.6682A>G (p.Thr2228Ala)
n.1730A>G
n.244A>G
n.4167A>G
c.6640A>G (p.Thr2214Ala)
c.6613A>G (p.Thr2205Ala)
c.6565A>G (p.Thr2189Ala)
c.6616A>G (p.Thr2206Ala)
c.6685A>G (p.Thr2229Ala)
c.6652A>G (p.Thr2218Ala)
c.6649A>G (p.Thr2217Ala)
c.6574A>G (p.Thr2192Ala)
3g.4788013A>TCA351640571ITPR1c.6693A>T (n.6693A>T)
c.6658A>T (p.Thr2220Ser)
c.6637A>T (p.Thr2213Ser)
c.6538A>T (p.Thr2180Ser)
c.6493A>T (p.Thr2165Ser)
n.574A>T
c.997-18090A>T (n.997-18090A>T)
c.2581A>T
n.4186A>T
c.3017A>T
c.4444A>T (p.Thr1482Ser)
c.3590A>T
c.6655A>T (p.Thr2219Ser)
c.6610A>T (p.Thr2204Ser)
c.447-58126A>T
c.3984A>T
n.516A>T
c.6682A>T (p.Thr2228Ser)
n.1730A>T
n.244A>T
n.4167A>T
c.6640A>T (p.Thr2214Ser)
c.6613A>T (p.Thr2205Ser)
c.6565A>T (p.Thr2189Ser)
c.6616A>T (p.Thr2206Ser)
c.6685A>T (p.Thr2229Ser)
c.6652A>T (p.Thr2218Ser)
c.6649A>T (p.Thr2217Ser)
c.6574A>T (p.Thr2192Ser)
3g.4788014C>ACA351640572ITPR1c.6694C>A (n.6694C>A)
c.6659C>A (p.Thr2220Asn)
c.6638C>A (p.Thr2213Asn)
c.6539C>A (p.Thr2180Asn)
c.6494C>A (p.Thr2165Asn)
n.575C>A
c.997-18089C>A (n.997-18089C>A)
c.2582C>A
n.4187C>A
c.3018C>A
c.4445C>A (p.Thr1482Asn)
c.3591C>A
c.6656C>A (p.Thr2219Asn)
c.6611C>A (p.Thr2204Asn)
c.447-58125C>A
c.3985C>A
n.517C>A
c.6683C>A (p.Thr2228Asn)
n.1731C>A
n.245C>A
n.4168C>A
c.6641C>A (p.Thr2214Asn)
c.6614C>A (p.Thr2205Asn)
c.6566C>A (p.Thr2189Asn)
c.6617C>A (p.Thr2206Asn)
c.6686C>A (p.Thr2229Asn)
c.6653C>A (p.Thr2218Asn)
c.6650C>A (p.Thr2217Asn)
c.6575C>A (p.Thr2192Asn)
3g.4788014C>GCA351640573ITPR1c.6694C>G (n.6694C>G)
c.6659C>G (p.Thr2220Ser)
c.6638C>G (p.Thr2213Ser)
c.6539C>G (p.Thr2180Ser)
c.6494C>G (p.Thr2165Ser)
n.575C>G
c.997-18089C>G (n.997-18089C>G)
c.2582C>G
n.4187C>G
c.3018C>G
c.4445C>G (p.Thr1482Ser)
c.3591C>G
c.6656C>G (p.Thr2219Ser)
c.6611C>G (p.Thr2204Ser)
c.447-58125C>G
c.3985C>G
n.517C>G
c.6683C>G (p.Thr2228Ser)
n.1731C>G
n.245C>G
n.4168C>G
c.6641C>G (p.Thr2214Ser)
c.6614C>G (p.Thr2205Ser)
c.6566C>G (p.Thr2189Ser)
c.6617C>G (p.Thr2206Ser)
c.6686C>G (p.Thr2229Ser)
c.6653C>G (p.Thr2218Ser)
c.6650C>G (p.Thr2217Ser)
c.6575C>G (p.Thr2192Ser)
3g.4788014C>TCA351640574ITPR1c.6694C>T (n.6694C>T)
c.6659C>T (p.Thr2220Ile)
c.6638C>T (p.Thr2213Ile)
c.6539C>T (p.Thr2180Ile)
c.6494C>T (p.Thr2165Ile)
n.575C>T
c.997-18089C>T (n.997-18089C>T)
c.2582C>T
n.4187C>T
c.3018C>T
c.4445C>T (p.Thr1482Ile)
c.3591C>T
c.6656C>T (p.Thr2219Ile)
c.6611C>T (p.Thr2204Ile)
c.447-58125C>T
c.3985C>T
n.517C>T
c.6683C>T (p.Thr2228Ile)
n.1731C>T
n.245C>T
n.4168C>T
c.6641C>T (p.Thr2214Ile)
c.6614C>T (p.Thr2205Ile)
c.6566C>T (p.Thr2189Ile)
c.6617C>T (p.Thr2206Ile)
c.6686C>T (p.Thr2229Ile)
c.6653C>T (p.Thr2218Ile)
c.6650C>T (p.Thr2217Ile)
c.6575C>T (p.Thr2192Ile)
3g.4788015C>ACA432322782ITPR1c.6695C>A (n.6695C>A)
c.6660C>A (p.Thr2220=)
c.6639C>A (p.Thr2213=)
c.6540C>A (p.Thr2180=)
c.6495C>A (p.Thr2165=)
n.576C>A
c.997-18088C>A (n.997-18088C>A)
c.2583C>A
n.4188C>A
c.3019C>A
c.4446C>A (p.Thr1482=)
c.3592C>A
c.6657C>A (p.Thr2219=)
c.6612C>A (p.Thr2204=)
c.447-58124C>A
c.3986C>A
n.518C>A
c.6684C>A (p.Thr2228=)
n.1732C>A
n.246C>A
n.4169C>A
c.6642C>A (p.Thr2214=)
c.6615C>A (p.Thr2205=)
c.6567C>A (p.Thr2189=)
c.6618C>A (p.Thr2206=)
c.6687C>A (p.Thr2229=)
c.6654C>A (p.Thr2218=)
c.6651C>A (p.Thr2217=)
c.6576C>A (p.Thr2192=)
 gnomAD v4
3g.4788015C>GCA432322787ITPR1c.6695C>G (n.6695C>G)
c.6660C>G (p.Thr2220=)
c.6639C>G (p.Thr2213=)
c.6540C>G (p.Thr2180=)
c.6495C>G (p.Thr2165=)
n.576C>G
c.997-18088C>G (n.997-18088C>G)
c.2583C>G
n.4188C>G
c.3019C>G
c.4446C>G (p.Thr1482=)
c.3592C>G
c.6657C>G (p.Thr2219=)
c.6612C>G (p.Thr2204=)
c.447-58124C>G
c.3986C>G
n.518C>G
c.6684C>G (p.Thr2228=)
n.1732C>G
n.246C>G
n.4169C>G
c.6642C>G (p.Thr2214=)
c.6615C>G (p.Thr2205=)
c.6567C>G (p.Thr2189=)
c.6618C>G (p.Thr2206=)
c.6687C>G (p.Thr2229=)
c.6654C>G (p.Thr2218=)
c.6651C>G (p.Thr2217=)
c.6576C>G (p.Thr2192=)
3g.4788015C>TCA432322784ITPR1c.6695C>T (n.6695C>T)
c.6660C>T (p.Thr2220=)
c.6639C>T (p.Thr2213=)
c.6540C>T (p.Thr2180=)
c.6495C>T (p.Thr2165=)
n.576C>T
c.997-18088C>T (n.997-18088C>T)
c.2583C>T
n.4188C>T
c.3019C>T
c.4446C>T (p.Thr1482=)
c.3592C>T
c.6657C>T (p.Thr2219=)
c.6612C>T (p.Thr2204=)
c.447-58124C>T
c.3986C>T
n.518C>T
c.6684C>T (p.Thr2228=)
n.1732C>T
n.246C>T
n.4169C>T
c.6642C>T (p.Thr2214=)
c.6615C>T (p.Thr2205=)
c.6567C>T (p.Thr2189=)
c.6618C>T (p.Thr2206=)
c.6687C>T (p.Thr2229=)
c.6654C>T (p.Thr2218=)
c.6651C>T (p.Thr2217=)
c.6576C>T (p.Thr2192=)
3g.4788016A>CCA351640575ITPR1c.6696A>C (n.6696A>C)
c.6661A>C (p.Lys2221Gln)
c.6640A>C (p.Lys2214Gln)
c.6541A>C (p.Lys2181Gln)
c.6496A>C (p.Lys2166Gln)
n.577A>C
c.997-18087A>C (n.997-18087A>C)
c.2584A>C
n.4189A>C
c.3020A>C
c.4447A>C (p.Lys1483Gln)
c.3593A>C
c.6658A>C (p.Lys2220Gln)
c.6613A>C (p.Lys2205Gln)
c.447-58123A>C
c.3987A>C
n.519A>C
c.6685A>C (p.Lys2229Gln)
n.1733A>C
n.247A>C
n.4170A>C
c.6643A>C (p.Lys2215Gln)
c.6616A>C (p.Lys2206Gln)
c.6568A>C (p.Lys2190Gln)
c.6619A>C (p.Lys2207Gln)
c.6688A>C (p.Lys2230Gln)
c.6655A>C (p.Lys2219Gln)
c.6652A>C (p.Lys2218Gln)
c.6577A>C (p.Lys2193Gln)
3g.4788016A>GCA351640576ITPR1c.6696A>G (n.6696A>G)
c.6661A>G (p.Lys2221Glu)
c.6640A>G (p.Lys2214Glu)
c.6541A>G (p.Lys2181Glu)
c.6496A>G (p.Lys2166Glu)
n.577A>G
c.997-18087A>G (n.997-18087A>G)
c.2584A>G
n.4189A>G
c.3020A>G
c.4447A>G (p.Lys1483Glu)
c.3593A>G
c.6658A>G (p.Lys2220Glu)
c.6613A>G (p.Lys2205Glu)
c.447-58123A>G
c.3987A>G
n.519A>G
c.6685A>G (p.Lys2229Glu)
n.1733A>G
n.247A>G
n.4170A>G
c.6643A>G (p.Lys2215Glu)
c.6616A>G (p.Lys2206Glu)
c.6568A>G (p.Lys2190Glu)
c.6619A>G (p.Lys2207Glu)
c.6688A>G (p.Lys2230Glu)
c.6655A>G (p.Lys2219Glu)
c.6652A>G (p.Lys2218Glu)
c.6577A>G (p.Lys2193Glu)
3g.4788016A>TCA351640577ITPR1c.6696A>T (n.6696A>T)
c.6661A>T (p.Lys2221Ter)
c.6640A>T (p.Lys2214Ter)
c.6541A>T (p.Lys2181Ter)
c.6496A>T (p.Lys2166Ter)
n.577A>T
c.997-18087A>T (n.997-18087A>T)
c.2584A>T
n.4189A>T
c.3020A>T
c.4447A>T (p.Lys1483Ter)
c.3593A>T
c.6658A>T (p.Lys2220Ter)
c.6613A>T (p.Lys2205Ter)
c.447-58123A>T
c.3987A>T
n.519A>T
c.6685A>T (p.Lys2229Ter)
n.1733A>T
n.247A>T
n.4170A>T
c.6643A>T (p.Lys2215Ter)
c.6616A>T (p.Lys2206Ter)
c.6568A>T (p.Lys2190Ter)
c.6619A>T (p.Lys2207Ter)
c.6688A>T (p.Lys2230Ter)
c.6655A>T (p.Lys2219Ter)
c.6652A>T (p.Lys2218Ter)
c.6577A>T (p.Lys2193Ter)
 gnomAD v4
3g.4788017A>CCA351640578ITPR1c.6697A>C (n.6697A>C)
c.6662A>C (p.Lys2221Thr)
c.6641A>C (p.Lys2214Thr)
c.6542A>C (p.Lys2181Thr)
c.6497A>C (p.Lys2166Thr)
n.578A>C
c.997-18086A>C (n.997-18086A>C)
c.2585A>C
n.4190A>C
c.3021A>C
c.4448A>C (p.Lys1483Thr)
c.3594A>C
c.6659A>C (p.Lys2220Thr)
c.6614A>C (p.Lys2205Thr)
c.447-58122A>C
c.3988A>C
n.520A>C
c.6686A>C (p.Lys2229Thr)
n.1734A>C
n.248A>C
n.4171A>C
c.6644A>C (p.Lys2215Thr)
c.6617A>C (p.Lys2206Thr)
c.6569A>C (p.Lys2190Thr)
c.6620A>C (p.Lys2207Thr)
c.6689A>C (p.Lys2230Thr)
c.6656A>C (p.Lys2219Thr)
c.6653A>C (p.Lys2218Thr)
c.6578A>C (p.Lys2193Thr)
3g.4788017A>GCA351640579ITPR1c.6697A>G (n.6697A>G)
c.6662A>G (p.Lys2221Arg)
c.6641A>G (p.Lys2214Arg)
c.6542A>G (p.Lys2181Arg)
c.6497A>G (p.Lys2166Arg)
n.578A>G
c.997-18086A>G (n.997-18086A>G)
c.2585A>G
n.4190A>G
c.3021A>G
c.4448A>G (p.Lys1483Arg)
c.3594A>G
c.6659A>G (p.Lys2220Arg)
c.6614A>G (p.Lys2205Arg)
c.447-58122A>G
c.3988A>G
n.520A>G
c.6686A>G (p.Lys2229Arg)
n.1734A>G
n.248A>G
n.4171A>G
c.6644A>G (p.Lys2215Arg)
c.6617A>G (p.Lys2206Arg)
c.6569A>G (p.Lys2190Arg)
c.6620A>G (p.Lys2207Arg)
c.6689A>G (p.Lys2230Arg)
c.6656A>G (p.Lys2219Arg)
c.6653A>G (p.Lys2218Arg)
c.6578A>G (p.Lys2193Arg)
3g.4788017A>TCA351640580ITPR1c.6697A>T (n.6697A>T)
c.6662A>T (p.Lys2221Met)
c.6641A>T (p.Lys2214Met)
c.6542A>T (p.Lys2181Met)
c.6497A>T (p.Lys2166Met)
n.578A>T
c.997-18086A>T (n.997-18086A>T)
c.2585A>T
n.4190A>T
c.3021A>T
c.4448A>T (p.Lys1483Met)
c.3594A>T
c.6659A>T (p.Lys2220Met)
c.6614A>T (p.Lys2205Met)
c.447-58122A>T
c.3988A>T
n.520A>T
c.6686A>T (p.Lys2229Met)
n.1734A>T
n.248A>T
n.4171A>T
c.6644A>T (p.Lys2215Met)
c.6617A>T (p.Lys2206Met)
c.6569A>T (p.Lys2190Met)
c.6620A>T (p.Lys2207Met)
c.6689A>T (p.Lys2230Met)
c.6656A>T (p.Lys2219Met)
c.6653A>T (p.Lys2218Met)
c.6578A>T (p.Lys2193Met)
3g.4788018G>ACA432322803ITPR1c.6698G>A (n.6698G>A)
c.6663G>A (p.Lys2221=)
c.6642G>A (p.Lys2214=)
c.6543G>A (p.Lys2181=)
c.6498G>A (p.Lys2166=)
n.579G>A
c.997-18085G>A (n.997-18085G>A)
c.2586G>A
n.4191G>A
c.3022G>A
c.4449G>A (p.Lys1483=)
c.3595G>A
c.6660G>A (p.Lys2220=)
c.6615G>A (p.Lys2205=)
c.447-58121G>A
c.3989G>A
n.521G>A
c.6687G>A (p.Lys2229=)
n.1735G>A
n.249G>A
n.4172G>A
c.6645G>A (p.Lys2215=)
c.6618G>A (p.Lys2206=)
c.6570G>A (p.Lys2190=)
c.6621G>A (p.Lys2207=)
c.6690G>A (p.Lys2230=)
c.6657G>A (p.Lys2219=)
c.6654G>A (p.Lys2218=)
c.6579G>A (p.Lys2193=)
3g.4788018G>CCA351640581ITPR1c.6698G>C (n.6698G>C)
c.6663G>C (p.Lys2221Asn)
c.6642G>C (p.Lys2214Asn)
c.6543G>C (p.Lys2181Asn)
c.6498G>C (p.Lys2166Asn)
n.579G>C
c.997-18085G>C (n.997-18085G>C)
c.2586G>C
n.4191G>C
c.3022G>C
c.4449G>C (p.Lys1483Asn)
c.3595G>C
c.6660G>C (p.Lys2220Asn)
c.6615G>C (p.Lys2205Asn)
c.447-58121G>C
c.3989G>C
n.521G>C
c.6687G>C (p.Lys2229Asn)
n.1735G>C
n.249G>C
n.4172G>C
c.6645G>C (p.Lys2215Asn)
c.6618G>C (p.Lys2206Asn)
c.6570G>C (p.Lys2190Asn)
c.6621G>C (p.Lys2207Asn)
c.6690G>C (p.Lys2230Asn)
c.6657G>C (p.Lys2219Asn)
c.6654G>C (p.Lys2218Asn)
c.6579G>C (p.Lys2193Asn)
3g.4788018G=CA1342337429ITPR1c.6698G= (n.6698G=)
c.6663G= (p.Lys2221=)
c.6642G= (p.Lys2214=)
c.6543G= (p.Lys2181=)
c.6498G= (p.Lys2166=)
n.579G=
c.997-18085G= (n.997-18085G=)
c.2586G=
n.4191G=
c.3022G=
c.4449G= (p.Lys1483=)
c.3595G=
c.6660G= (p.Lys2220=)
c.6615G= (p.Lys2205=)
c.447-58121G=
c.3989G=
n.521G=
c.6687G= (p.Lys2229=)
n.1735G=
n.249G=
n.4172G=
c.6645G= (p.Lys2215=)
c.6618G= (p.Lys2206=)
c.6570G= (p.Lys2190=)
c.6621G= (p.Lys2207=)
c.6690G= (p.Lys2230=)
c.6657G= (p.Lys2219=)
c.6654G= (p.Lys2218=)
c.6579G= (p.Lys2193=)
3g.4788018G>TCA2232653ITPR1c.6698G>T (n.6698G>T)
c.6663G>T (p.Lys2221Asn)
c.6642G>T (p.Lys2214Asn)
c.6543G>T (p.Lys2181Asn)
c.6498G>T (p.Lys2166Asn)
n.579G>T
c.997-18085G>T (n.997-18085G>T)
c.2586G>T
n.4191G>T
c.3022G>T
c.4449G>T (p.Lys1483Asn)
c.3595G>T
c.6660G>T (p.Lys2220Asn)
c.6615G>T (p.Lys2205Asn)
c.447-58121G>T
c.3989G>T
n.521G>T
c.6687G>T (p.Lys2229Asn)
n.1735G>T
n.249G>T
n.4172G>T
c.6645G>T (p.Lys2215Asn)
c.6618G>T (p.Lys2206Asn)
c.6570G>T (p.Lys2190Asn)
c.6621G>T (p.Lys2207Asn)
c.6690G>T (p.Lys2230Asn)
c.6657G>T (p.Lys2219Asn)
c.6654G>T (p.Lys2218Asn)
c.6579G>T (p.Lys2193Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788019G>ACA351640582ITPR1c.6699G>A (n.6699G>A)
c.6664G>A (p.Glu2222Lys)
c.6643G>A (p.Glu2215Lys)
c.6544G>A (p.Glu2182Lys)
c.6499G>A (p.Glu2167Lys)
n.580G>A
c.997-18084G>A (n.997-18084G>A)
c.2587G>A
n.4192G>A
c.3023G>A
c.4450G>A (p.Glu1484Lys)
c.3596G>A
c.6661G>A (p.Glu2221Lys)
c.6616G>A (p.Glu2206Lys)
c.447-58120G>A
c.3990G>A
n.522G>A
c.6688G>A (p.Glu2230Lys)
n.1736G>A
n.250G>A
n.4173G>A
c.6646G>A (p.Glu2216Lys)
c.6619G>A (p.Glu2207Lys)
c.6571G>A (p.Glu2191Lys)
c.6622G>A (p.Glu2208Lys)
c.6691G>A (p.Glu2231Lys)
c.6658G>A (p.Glu2220Lys)
c.6655G>A (p.Glu2219Lys)
c.6580G>A (p.Glu2194Lys)
3g.4788019G>CCA351640583ITPR1c.6699G>C (n.6699G>C)
c.6664G>C (p.Glu2222Gln)
c.6643G>C (p.Glu2215Gln)
c.6544G>C (p.Glu2182Gln)
c.6499G>C (p.Glu2167Gln)
n.580G>C
c.997-18084G>C (n.997-18084G>C)
c.2587G>C
n.4192G>C
c.3023G>C
c.4450G>C (p.Glu1484Gln)
c.3596G>C
c.6661G>C (p.Glu2221Gln)
c.6616G>C (p.Glu2206Gln)
c.447-58120G>C
c.3990G>C
n.522G>C
c.6688G>C (p.Glu2230Gln)
n.1736G>C
n.250G>C
n.4173G>C
c.6646G>C (p.Glu2216Gln)
c.6619G>C (p.Glu2207Gln)
c.6571G>C (p.Glu2191Gln)
c.6622G>C (p.Glu2208Gln)
c.6691G>C (p.Glu2231Gln)
c.6658G>C (p.Glu2220Gln)
c.6655G>C (p.Glu2219Gln)
c.6580G>C (p.Glu2194Gln)
3g.4788019G>TCA351640584ITPR1c.6699G>T (n.6699G>T)
c.6664G>T (p.Glu2222Ter)
c.6643G>T (p.Glu2215Ter)
c.6544G>T (p.Glu2182Ter)
c.6499G>T (p.Glu2167Ter)
n.580G>T
c.997-18084G>T (n.997-18084G>T)
c.2587G>T
n.4192G>T
c.3023G>T
c.4450G>T (p.Glu1484Ter)
c.3596G>T
c.6661G>T (p.Glu2221Ter)
c.6616G>T (p.Glu2206Ter)
c.447-58120G>T
c.3990G>T
n.522G>T
c.6688G>T (p.Glu2230Ter)
n.1736G>T
n.250G>T
n.4173G>T
c.6646G>T (p.Glu2216Ter)
c.6619G>T (p.Glu2207Ter)
c.6571G>T (p.Glu2191Ter)
c.6622G>T (p.Glu2208Ter)
c.6691G>T (p.Glu2231Ter)
c.6658G>T (p.Glu2220Ter)
c.6655G>T (p.Glu2219Ter)
c.6580G>T (p.Glu2194Ter)
3g.4788020A>CCA351640585ITPR1c.6700A>C (n.6700A>C)
c.6665A>C (p.Glu2222Ala)
c.6644A>C (p.Glu2215Ala)
c.6545A>C (p.Glu2182Ala)
c.6500A>C (p.Glu2167Ala)
n.581A>C
c.997-18083A>C (n.997-18083A>C)
c.2588A>C
n.4193A>C
c.3024A>C
c.4451A>C (p.Glu1484Ala)
c.3597A>C
c.6662A>C (p.Glu2221Ala)
c.6617A>C (p.Glu2206Ala)
c.447-58119A>C
c.3991A>C
n.523A>C
c.6689A>C (p.Glu2230Ala)
n.1737A>C
n.251A>C
n.4174A>C
c.6647A>C (p.Glu2216Ala)
c.6620A>C (p.Glu2207Ala)
c.6572A>C (p.Glu2191Ala)
c.6623A>C (p.Glu2208Ala)
c.6692A>C (p.Glu2231Ala)
c.6659A>C (p.Glu2220Ala)
c.6656A>C (p.Glu2219Ala)
c.6581A>C (p.Glu2194Ala)
3g.4788020A>GCA351640586ITPR1c.6700A>G (n.6700A>G)
c.6665A>G (p.Glu2222Gly)
c.6644A>G (p.Glu2215Gly)
c.6545A>G (p.Glu2182Gly)
c.6500A>G (p.Glu2167Gly)
n.581A>G
c.997-18083A>G (n.997-18083A>G)
c.2588A>G
n.4193A>G
c.3024A>G
c.4451A>G (p.Glu1484Gly)
c.3597A>G
c.6662A>G (p.Glu2221Gly)
c.6617A>G (p.Glu2206Gly)
c.447-58119A>G
c.3991A>G
n.523A>G
c.6689A>G (p.Glu2230Gly)
n.1737A>G
n.251A>G
n.4174A>G
c.6647A>G (p.Glu2216Gly)
c.6620A>G (p.Glu2207Gly)
c.6572A>G (p.Glu2191Gly)
c.6623A>G (p.Glu2208Gly)
c.6692A>G (p.Glu2231Gly)
c.6659A>G (p.Glu2220Gly)
c.6656A>G (p.Glu2219Gly)
c.6581A>G (p.Glu2194Gly)
3g.4788020A>TCA351640587ITPR1c.6700A>T (n.6700A>T)
c.6665A>T (p.Glu2222Val)
c.6644A>T (p.Glu2215Val)
c.6545A>T (p.Glu2182Val)
c.6500A>T (p.Glu2167Val)
n.581A>T
c.997-18083A>T (n.997-18083A>T)
c.2588A>T
n.4193A>T
c.3024A>T
c.4451A>T (p.Glu1484Val)
c.3597A>T
c.6662A>T (p.Glu2221Val)
c.6617A>T (p.Glu2206Val)
c.447-58119A>T
c.3991A>T
n.523A>T
c.6689A>T (p.Glu2230Val)
n.1737A>T
n.251A>T
n.4174A>T
c.6647A>T (p.Glu2216Val)
c.6620A>T (p.Glu2207Val)
c.6572A>T (p.Glu2191Val)
c.6623A>T (p.Glu2208Val)
c.6692A>T (p.Glu2231Val)
c.6659A>T (p.Glu2220Val)
c.6656A>T (p.Glu2219Val)
c.6581A>T (p.Glu2194Val)
3g.4788021G>ACA432322830ITPR1c.6701G>A (n.6701G>A)
c.6666G>A (p.Glu2222=)
c.6645G>A (p.Glu2215=)
c.6546G>A (p.Glu2182=)
c.6501G>A (p.Glu2167=)
n.582G>A
c.997-18082G>A (n.997-18082G>A)
c.2589G>A
n.4194G>A
c.3025G>A
c.4452G>A (p.Glu1484=)
c.3598G>A
c.6663G>A (p.Glu2221=)
c.6618G>A (p.Glu2206=)
c.447-58118G>A
c.3992G>A
n.524G>A
c.6690G>A (p.Glu2230=)
n.1738G>A
n.252G>A
n.4175G>A
c.6648G>A (p.Glu2216=)
c.6621G>A (p.Glu2207=)
c.6573G>A (p.Glu2191=)
c.6624G>A (p.Glu2208=)
c.6693G>A (p.Glu2231=)
c.6660G>A (p.Glu2220=)
c.6657G>A (p.Glu2219=)
c.6582G>A (p.Glu2194=)
 dbSNP gnomAD v4
3g.4788021G>CCA351640588ITPR1c.6701G>C (n.6701G>C)
c.6666G>C (p.Glu2222Asp)
c.6645G>C (p.Glu2215Asp)
c.6546G>C (p.Glu2182Asp)
c.6501G>C (p.Glu2167Asp)
n.582G>C
c.997-18082G>C (n.997-18082G>C)
c.2589G>C
n.4194G>C
c.3025G>C
c.4452G>C (p.Glu1484Asp)
c.3598G>C
c.6663G>C (p.Glu2221Asp)
c.6618G>C (p.Glu2206Asp)
c.447-58118G>C
c.3992G>C
n.524G>C
c.6690G>C (p.Glu2230Asp)
n.1738G>C
n.252G>C
n.4175G>C
c.6648G>C (p.Glu2216Asp)
c.6621G>C (p.Glu2207Asp)
c.6573G>C (p.Glu2191Asp)
c.6624G>C (p.Glu2208Asp)
c.6693G>C (p.Glu2231Asp)
c.6660G>C (p.Glu2220Asp)
c.6657G>C (p.Glu2219Asp)
c.6582G>C (p.Glu2194Asp)
3g.4788021G=CA1342337430ITPR1c.6701G= (n.6701G=)
c.6666G= (p.Glu2222=)
c.6645G= (p.Glu2215=)
c.6546G= (p.Glu2182=)
c.6501G= (p.Glu2167=)
n.582G=
c.997-18082G= (n.997-18082G=)
c.2589G=
n.4194G=
c.3025G=
c.4452G= (p.Glu1484=)
c.3598G=
c.6663G= (p.Glu2221=)
c.6618G= (p.Glu2206=)
c.447-58118G=
c.3992G=
n.524G=
c.6690G= (p.Glu2230=)
n.1738G=
n.252G=
n.4175G=
c.6648G= (p.Glu2216=)
c.6621G= (p.Glu2207=)
c.6573G= (p.Glu2191=)
c.6624G= (p.Glu2208=)
c.6693G= (p.Glu2231=)
c.6660G= (p.Glu2220=)
c.6657G= (p.Glu2219=)
c.6582G= (p.Glu2194=)
3g.4788021G>TCA351640589ITPR1c.6701G>T (n.6701G>T)
c.6666G>T (p.Glu2222Asp)
c.6645G>T (p.Glu2215Asp)
c.6546G>T (p.Glu2182Asp)
c.6501G>T (p.Glu2167Asp)
n.582G>T
c.997-18082G>T (n.997-18082G>T)
c.2589G>T
n.4194G>T
c.3025G>T
c.4452G>T (p.Glu1484Asp)
c.3598G>T
c.6663G>T (p.Glu2221Asp)
c.6618G>T (p.Glu2206Asp)
c.447-58118G>T
c.3992G>T
n.524G>T
c.6690G>T (p.Glu2230Asp)
n.1738G>T
n.252G>T
n.4175G>T
c.6648G>T (p.Glu2216Asp)
c.6621G>T (p.Glu2207Asp)
c.6573G>T (p.Glu2191Asp)
c.6624G>T (p.Glu2208Asp)
c.6693G>T (p.Glu2231Asp)
c.6660G>T (p.Glu2220Asp)
c.6657G>T (p.Glu2219Asp)
c.6582G>T (p.Glu2194Asp)
3g.4788022T>ACA351640590ITPR1c.6702T>A (n.6702T>A)
c.6667T>A (p.Ser2223Thr)
c.6646T>A (p.Ser2216Thr)
c.6547T>A (p.Ser2183Thr)
c.6502T>A (p.Ser2168Thr)
n.583T>A
c.997-18081T>A (n.997-18081T>A)
c.2590T>A
n.4195T>A
c.3026T>A
c.4453T>A (p.Ser1485Thr)
c.3599T>A
c.6664T>A (p.Ser2222Thr)
c.6619T>A (p.Ser2207Thr)
c.447-58117T>A
c.3993T>A
n.525T>A
c.6691T>A (p.Ser2231Thr)
n.1739T>A
n.253T>A
n.4176T>A
c.6649T>A (p.Ser2217Thr)
c.6622T>A (p.Ser2208Thr)
c.6574T>A (p.Ser2192Thr)
c.6625T>A (p.Ser2209Thr)
c.6694T>A (p.Ser2232Thr)
c.6661T>A (p.Ser2221Thr)
c.6658T>A (p.Ser2220Thr)
c.6583T>A (p.Ser2195Thr)
3g.4788022T>CCA351640591ITPR1c.6702T>C (n.6702T>C)
c.6667T>C (p.Ser2223Pro)
c.6646T>C (p.Ser2216Pro)
c.6547T>C (p.Ser2183Pro)
c.6502T>C (p.Ser2168Pro)
n.583T>C
c.997-18081T>C (n.997-18081T>C)
c.2590T>C
n.4195T>C
c.3026T>C
c.4453T>C (p.Ser1485Pro)
c.3599T>C
c.6664T>C (p.Ser2222Pro)
c.6619T>C (p.Ser2207Pro)
c.447-58117T>C
c.3993T>C
n.525T>C
c.6691T>C (p.Ser2231Pro)
n.1739T>C
n.253T>C
n.4176T>C
c.6649T>C (p.Ser2217Pro)
c.6622T>C (p.Ser2208Pro)
c.6574T>C (p.Ser2192Pro)
c.6625T>C (p.Ser2209Pro)
c.6694T>C (p.Ser2232Pro)
c.6661T>C (p.Ser2221Pro)
c.6658T>C (p.Ser2220Pro)
c.6583T>C (p.Ser2195Pro)
3g.4788022T>GCA351640592ITPR1c.6702T>G (n.6702T>G)
c.6667T>G (p.Ser2223Ala)
c.6646T>G (p.Ser2216Ala)
c.6547T>G (p.Ser2183Ala)
c.6502T>G (p.Ser2168Ala)
n.583T>G
c.997-18081T>G (n.997-18081T>G)
c.2590T>G
n.4195T>G
c.3026T>G
c.4453T>G (p.Ser1485Ala)
c.3599T>G
c.6664T>G (p.Ser2222Ala)
c.6619T>G (p.Ser2207Ala)
c.447-58117T>G
c.3993T>G
n.525T>G
c.6691T>G (p.Ser2231Ala)
n.1739T>G
n.253T>G
n.4176T>G
c.6649T>G (p.Ser2217Ala)
c.6622T>G (p.Ser2208Ala)
c.6574T>G (p.Ser2192Ala)
c.6625T>G (p.Ser2209Ala)
c.6694T>G (p.Ser2232Ala)
c.6661T>G (p.Ser2221Ala)
c.6658T>G (p.Ser2220Ala)
c.6583T>G (p.Ser2195Ala)
3g.4788023C>ACA351640595ITPR1c.6703C>A (n.6703C>A)
c.6668C>A (p.Ser2223Ter)
c.6647C>A (p.Ser2216Ter)
c.6548C>A (p.Ser2183Ter)
c.6503C>A (p.Ser2168Ter)
n.584C>A
c.997-18080C>A (n.997-18080C>A)
c.2591C>A
n.4196C>A
c.3027C>A
c.4454C>A (p.Ser1485Ter)
c.3600C>A
c.6665C>A (p.Ser2222Ter)
c.6620C>A (p.Ser2207Ter)
c.447-58116C>A
c.3994C>A
n.526C>A
c.6692C>A (p.Ser2231Ter)
n.1740C>A
n.254C>A
n.4177C>A
c.6650C>A (p.Ser2217Ter)
c.6623C>A (p.Ser2208Ter)
c.6575C>A (p.Ser2192Ter)
c.6626C>A (p.Ser2209Ter)
c.6695C>A (p.Ser2232Ter)
c.6662C>A (p.Ser2221Ter)
c.6659C>A (p.Ser2220Ter)
c.6584C>A (p.Ser2195Ter)
3g.4788023C>GCA351640594ITPR1c.6703C>G (n.6703C>G)
c.6668C>G (p.Ser2223Ter)
c.6647C>G (p.Ser2216Ter)
c.6548C>G (p.Ser2183Ter)
c.6503C>G (p.Ser2168Ter)
n.584C>G
c.997-18080C>G (n.997-18080C>G)
c.2591C>G
n.4196C>G
c.3027C>G
c.4454C>G (p.Ser1485Ter)
c.3600C>G
c.6665C>G (p.Ser2222Ter)
c.6620C>G (p.Ser2207Ter)
c.447-58116C>G
c.3994C>G
n.526C>G
c.6692C>G (p.Ser2231Ter)
n.1740C>G
n.254C>G
n.4177C>G
c.6650C>G (p.Ser2217Ter)
c.6623C>G (p.Ser2208Ter)
c.6575C>G (p.Ser2192Ter)
c.6626C>G (p.Ser2209Ter)
c.6695C>G (p.Ser2232Ter)
c.6662C>G (p.Ser2221Ter)
c.6659C>G (p.Ser2220Ter)
c.6584C>G (p.Ser2195Ter)
3g.4788023C>TCA351640593ITPR1c.6703C>T (n.6703C>T)
c.6668C>T (p.Ser2223Leu)
c.6647C>T (p.Ser2216Leu)
c.6548C>T (p.Ser2183Leu)
c.6503C>T (p.Ser2168Leu)
n.584C>T
c.997-18080C>T (n.997-18080C>T)
c.2591C>T
n.4196C>T
c.3027C>T
c.4454C>T (p.Ser1485Leu)
c.3600C>T
c.6665C>T (p.Ser2222Leu)
c.6620C>T (p.Ser2207Leu)
c.447-58116C>T
c.3994C>T
n.526C>T
c.6692C>T (p.Ser2231Leu)
n.1740C>T
n.254C>T
n.4177C>T
c.6650C>T (p.Ser2217Leu)
c.6623C>T (p.Ser2208Leu)
c.6575C>T (p.Ser2192Leu)
c.6626C>T (p.Ser2209Leu)
c.6695C>T (p.Ser2232Leu)
c.6662C>T (p.Ser2221Leu)
c.6659C>T (p.Ser2220Leu)
c.6584C>T (p.Ser2195Leu)
3g.4788024A=CA1342337431ITPR1c.6704A= (n.6704A=)
c.6669A= (p.Ser2223=)
c.6648A= (p.Ser2216=)
c.6549A= (p.Ser2183=)
c.6504A= (p.Ser2168=)
n.585A=
c.997-18079A= (n.997-18079A=)
c.2592A=
n.4197A=
c.3028A=
c.4455A= (p.Ser1485=)
c.3601A=
c.6666A= (p.Ser2222=)
c.6621A= (p.Ser2207=)
c.447-58115A=
c.3995A=
n.527A=
c.6693A= (p.Ser2231=)
n.1741A=
n.255A=
n.4178A=
c.6651A= (p.Ser2217=)
c.6624A= (p.Ser2208=)
c.6576A= (p.Ser2192=)
c.6627A= (p.Ser2209=)
c.6696A= (p.Ser2232=)
c.6663A= (p.Ser2221=)
c.6660A= (p.Ser2220=)
c.6585A= (p.Ser2195=)
3g.4788024A>CCA432322853ITPR1c.6704A>C (n.6704A>C)
c.6669A>C (p.Ser2223=)
c.6648A>C (p.Ser2216=)
c.6549A>C (p.Ser2183=)
c.6504A>C (p.Ser2168=)
n.585A>C
c.997-18079A>C (n.997-18079A>C)
c.2592A>C
n.4197A>C
c.3028A>C
c.4455A>C (p.Ser1485=)
c.3601A>C
c.6666A>C (p.Ser2222=)
c.6621A>C (p.Ser2207=)
c.447-58115A>C
c.3995A>C
n.527A>C
c.6693A>C (p.Ser2231=)
n.1741A>C
n.255A>C
n.4178A>C
c.6651A>C (p.Ser2217=)
c.6624A>C (p.Ser2208=)
c.6576A>C (p.Ser2192=)
c.6627A>C (p.Ser2209=)
c.6696A>C (p.Ser2232=)
c.6663A>C (p.Ser2221=)
c.6660A>C (p.Ser2220=)
c.6585A>C (p.Ser2195=)
 gnomAD v4
3g.4788024A>GCA2232654ITPR1c.6704A>G (n.6704A>G)
c.6669A>G (p.Ser2223=)
c.6648A>G (p.Ser2216=)
c.6549A>G (p.Ser2183=)
c.6504A>G (p.Ser2168=)
n.585A>G
c.997-18079A>G (n.997-18079A>G)
c.2592A>G
n.4197A>G
c.3028A>G
c.4455A>G (p.Ser1485=)
c.3601A>G
c.6666A>G (p.Ser2222=)
c.6621A>G (p.Ser2207=)
c.447-58115A>G
c.3995A>G
n.527A>G
c.6693A>G (p.Ser2231=)
n.1741A>G
n.255A>G
n.4178A>G
c.6651A>G (p.Ser2217=)
c.6624A>G (p.Ser2208=)
c.6576A>G (p.Ser2192=)
c.6627A>G (p.Ser2209=)
c.6696A>G (p.Ser2232=)
c.6663A>G (p.Ser2221=)
c.6660A>G (p.Ser2220=)
c.6585A>G (p.Ser2195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788024A>TCA432322854ITPR1c.6704A>T (n.6704A>T)
c.6669A>T (p.Ser2223=)
c.6648A>T (p.Ser2216=)
c.6549A>T (p.Ser2183=)
c.6504A>T (p.Ser2168=)
n.585A>T
c.997-18079A>T (n.997-18079A>T)
c.2592A>T
n.4197A>T
c.3028A>T
c.4455A>T (p.Ser1485=)
c.3601A>T
c.6666A>T (p.Ser2222=)
c.6621A>T (p.Ser2207=)
c.447-58115A>T
c.3995A>T
n.527A>T
c.6693A>T (p.Ser2231=)
n.1741A>T
n.255A>T
n.4178A>T
c.6651A>T (p.Ser2217=)
c.6624A>T (p.Ser2208=)
c.6576A>T (p.Ser2192=)
c.6627A>T (p.Ser2209=)
c.6696A>T (p.Ser2232=)
c.6663A>T (p.Ser2221=)
c.6660A>T (p.Ser2220=)
c.6585A>T (p.Ser2195=)
3g.4788025A>CCA351640596ITPR1c.6705A>C (n.6705A>C)
c.6670A>C (p.Lys2224Gln)
c.6649A>C (p.Lys2217Gln)
c.6550A>C (p.Lys2184Gln)
c.6505A>C (p.Lys2169Gln)
n.586A>C
c.997-18078A>C (n.997-18078A>C)
c.2593A>C
n.4198A>C
c.3029A>C
c.4456A>C (p.Lys1486Gln)
c.3602A>C
c.6667A>C (p.Lys2223Gln)
c.6622A>C (p.Lys2208Gln)
c.447-58114A>C
c.3996A>C
n.528A>C
c.6694A>C (p.Lys2232Gln)
n.1742A>C
n.256A>C
n.4179A>C
c.6652A>C (p.Lys2218Gln)
c.6625A>C (p.Lys2209Gln)
c.6577A>C (p.Lys2193Gln)
c.6628A>C (p.Lys2210Gln)
c.6697A>C (p.Lys2233Gln)
c.6664A>C (p.Lys2222Gln)
c.6661A>C (p.Lys2221Gln)
c.6586A>C (p.Lys2196Gln)
3g.4788025A>GCA351640597ITPR1c.6705A>G (n.6705A>G)
c.6670A>G (p.Lys2224Glu)
c.6649A>G (p.Lys2217Glu)
c.6550A>G (p.Lys2184Glu)
c.6505A>G (p.Lys2169Glu)
n.586A>G
c.997-18078A>G (n.997-18078A>G)
c.2593A>G
n.4198A>G
c.3029A>G
c.4456A>G (p.Lys1486Glu)
c.3602A>G
c.6667A>G (p.Lys2223Glu)
c.6622A>G (p.Lys2208Glu)
c.447-58114A>G
c.3996A>G
n.528A>G
c.6694A>G (p.Lys2232Glu)
n.1742A>G
n.256A>G
n.4179A>G
c.6652A>G (p.Lys2218Glu)
c.6625A>G (p.Lys2209Glu)
c.6577A>G (p.Lys2193Glu)
c.6628A>G (p.Lys2210Glu)
c.6697A>G (p.Lys2233Glu)
c.6664A>G (p.Lys2222Glu)
c.6661A>G (p.Lys2221Glu)
c.6586A>G (p.Lys2196Glu)
3g.4788025A>TCA351640598ITPR1c.6705A>T (n.6705A>T)
c.6670A>T (p.Lys2224Ter)
c.6649A>T (p.Lys2217Ter)
c.6550A>T (p.Lys2184Ter)
c.6505A>T (p.Lys2169Ter)
n.586A>T
c.997-18078A>T (n.997-18078A>T)
c.2593A>T
n.4198A>T
c.3029A>T
c.4456A>T (p.Lys1486Ter)
c.3602A>T
c.6667A>T (p.Lys2223Ter)
c.6622A>T (p.Lys2208Ter)
c.447-58114A>T
c.3996A>T
n.528A>T
c.6694A>T (p.Lys2232Ter)
n.1742A>T
n.256A>T
n.4179A>T
c.6652A>T (p.Lys2218Ter)
c.6625A>T (p.Lys2209Ter)
c.6577A>T (p.Lys2193Ter)
c.6628A>T (p.Lys2210Ter)
c.6697A>T (p.Lys2233Ter)
c.6664A>T (p.Lys2222Ter)
c.6661A>T (p.Lys2221Ter)
c.6586A>T (p.Lys2196Ter)
3g.4788026A>CCA351640599ITPR1c.6706A>C (n.6706A>C)
c.6671A>C (p.Lys2224Thr)
c.6650A>C (p.Lys2217Thr)
c.6551A>C (p.Lys2184Thr)
c.6506A>C (p.Lys2169Thr)
n.587A>C
c.997-18077A>C (n.997-18077A>C)
c.2594A>C
n.4199A>C
c.3030A>C
c.4457A>C (p.Lys1486Thr)
c.3603A>C
c.6668A>C (p.Lys2223Thr)
c.6623A>C (p.Lys2208Thr)
c.447-58113A>C
c.3997A>C
n.529A>C
c.6695A>C (p.Lys2232Thr)
n.1743A>C
n.257A>C
n.4180A>C
c.6653A>C (p.Lys2218Thr)
c.6626A>C (p.Lys2209Thr)
c.6578A>C (p.Lys2193Thr)
c.6629A>C (p.Lys2210Thr)
c.6698A>C (p.Lys2233Thr)
c.6665A>C (p.Lys2222Thr)
c.6662A>C (p.Lys2221Thr)
c.6587A>C (p.Lys2196Thr)
3g.4788026A>GCA351640600ITPR1c.6706A>G (n.6706A>G)
c.6671A>G (p.Lys2224Arg)
c.6650A>G (p.Lys2217Arg)
c.6551A>G (p.Lys2184Arg)
c.6506A>G (p.Lys2169Arg)
n.587A>G
c.997-18077A>G (n.997-18077A>G)
c.2594A>G
n.4199A>G
c.3030A>G
c.4457A>G (p.Lys1486Arg)
c.3603A>G
c.6668A>G (p.Lys2223Arg)
c.6623A>G (p.Lys2208Arg)
c.447-58113A>G
c.3997A>G
n.529A>G
c.6695A>G (p.Lys2232Arg)
n.1743A>G
n.257A>G
n.4180A>G
c.6653A>G (p.Lys2218Arg)
c.6626A>G (p.Lys2209Arg)
c.6578A>G (p.Lys2193Arg)
c.6629A>G (p.Lys2210Arg)
c.6698A>G (p.Lys2233Arg)
c.6665A>G (p.Lys2222Arg)
c.6662A>G (p.Lys2221Arg)
c.6587A>G (p.Lys2196Arg)
3g.4788026A>TCA351640601ITPR1c.6706A>T (n.6706A>T)
c.6671A>T (p.Lys2224Ile)
c.6650A>T (p.Lys2217Ile)
c.6551A>T (p.Lys2184Ile)
c.6506A>T (p.Lys2169Ile)
n.587A>T
c.997-18077A>T (n.997-18077A>T)
c.2594A>T
n.4199A>T
c.3030A>T
c.4457A>T (p.Lys1486Ile)
c.3603A>T
c.6668A>T (p.Lys2223Ile)
c.6623A>T (p.Lys2208Ile)
c.447-58113A>T
c.3997A>T
n.529A>T
c.6695A>T (p.Lys2232Ile)
n.1743A>T
n.257A>T
n.4180A>T
c.6653A>T (p.Lys2218Ile)
c.6626A>T (p.Lys2209Ile)
c.6578A>T (p.Lys2193Ile)
c.6629A>T (p.Lys2210Ile)
c.6698A>T (p.Lys2233Ile)
c.6665A>T (p.Lys2222Ile)
c.6662A>T (p.Lys2221Ile)
c.6587A>T (p.Lys2196Ile)
3g.4788027A=CA1342337432ITPR1c.6707A= (n.6707A=)
c.6672A= (p.Lys2224=)
c.6651A= (p.Lys2217=)
c.6552A= (p.Lys2184=)
c.6507A= (p.Lys2169=)
n.588A=
c.997-18076A= (n.997-18076A=)
c.2595A=
n.4200A=
c.3031A=
c.4458A= (p.Lys1486=)
c.3604A=
c.6669A= (p.Lys2223=)
c.6624A= (p.Lys2208=)
c.447-58112A=
c.3998A=
n.530A=
c.6696A= (p.Lys2232=)
n.1744A=
n.258A=
n.4181A=
c.6654A= (p.Lys2218=)
c.6627A= (p.Lys2209=)
c.6579A= (p.Lys2193=)
c.6630A= (p.Lys2210=)
c.6699A= (p.Lys2233=)
c.6666A= (p.Lys2222=)
c.6663A= (p.Lys2221=)
c.6588A= (p.Lys2196=)
3g.4788027A>CCA351640602ITPR1c.6707A>C (n.6707A>C)
c.6672A>C (p.Lys2224Asn)
c.6651A>C (p.Lys2217Asn)
c.6552A>C (p.Lys2184Asn)
c.6507A>C (p.Lys2169Asn)
n.588A>C
c.997-18076A>C (n.997-18076A>C)
c.2595A>C
n.4200A>C
c.3031A>C
c.4458A>C (p.Lys1486Asn)
c.3604A>C
c.6669A>C (p.Lys2223Asn)
c.6624A>C (p.Lys2208Asn)
c.447-58112A>C
c.3998A>C
n.530A>C
c.6696A>C (p.Lys2232Asn)
n.1744A>C
n.258A>C
n.4181A>C
c.6654A>C (p.Lys2218Asn)
c.6627A>C (p.Lys2209Asn)
c.6579A>C (p.Lys2193Asn)
c.6630A>C (p.Lys2210Asn)
c.6699A>C (p.Lys2233Asn)
c.6666A>C (p.Lys2222Asn)
c.6663A>C (p.Lys2221Asn)
c.6588A>C (p.Lys2196Asn)
3g.4788027A>GCA153216ITPR1c.6707A>G (n.6707A>G)
c.6672A>G (p.Lys2224=)
c.6651A>G (p.Lys2217=)
c.6552A>G (p.Lys2184=)
c.6507A>G (p.Lys2169=)
n.588A>G
c.997-18076A>G (n.997-18076A>G)
c.2595A>G
n.4200A>G
c.3031A>G
c.4458A>G (p.Lys1486=)
c.3604A>G
c.6669A>G (p.Lys2223=)
c.6624A>G (p.Lys2208=)
c.447-58112A>G
c.3998A>G
n.530A>G
c.6696A>G (p.Lys2232=)
n.1744A>G
n.258A>G
n.4181A>G
c.6654A>G (p.Lys2218=)
c.6627A>G (p.Lys2209=)
c.6579A>G (p.Lys2193=)
c.6630A>G (p.Lys2210=)
c.6699A>G (p.Lys2233=)
c.6666A>G (p.Lys2222=)
c.6663A>G (p.Lys2221=)
c.6588A>G (p.Lys2196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788027A>TCA351640603ITPR1c.6707A>T (n.6707A>T)
c.6672A>T (p.Lys2224Asn)
c.6651A>T (p.Lys2217Asn)
c.6552A>T (p.Lys2184Asn)
c.6507A>T (p.Lys2169Asn)
n.588A>T
c.997-18076A>T (n.997-18076A>T)
c.2595A>T
n.4200A>T
c.3031A>T
c.4458A>T (p.Lys1486Asn)
c.3604A>T
c.6669A>T (p.Lys2223Asn)
c.6624A>T (p.Lys2208Asn)
c.447-58112A>T
c.3998A>T
n.530A>T
c.6696A>T (p.Lys2232Asn)
n.1744A>T
n.258A>T
n.4181A>T
c.6654A>T (p.Lys2218Asn)
c.6627A>T (p.Lys2209Asn)
c.6579A>T (p.Lys2193Asn)
c.6630A>T (p.Lys2210Asn)
c.6699A>T (p.Lys2233Asn)
c.6666A>T (p.Lys2222Asn)
c.6663A>T (p.Lys2221Asn)
c.6588A>T (p.Lys2196Asn)
3g.4788028C>ACA351640604ITPR1c.6708C>A (n.6708C>A)
c.6673C>A (p.Leu2225Ile)
c.6652C>A (p.Leu2218Ile)
c.6553C>A (p.Leu2185Ile)
c.6508C>A (p.Leu2170Ile)
n.589C>A
c.997-18075C>A (n.997-18075C>A)
c.2596C>A
n.4201C>A
c.3032C>A
c.4459C>A (p.Leu1487Ile)
c.3605C>A
c.6670C>A (p.Leu2224Ile)
c.6625C>A (p.Leu2209Ile)
c.447-58111C>A
c.3999C>A
n.531C>A
c.6697C>A (p.Leu2233Ile)
n.1745C>A
n.259C>A
n.4182C>A
c.6655C>A (p.Leu2219Ile)
c.6628C>A (p.Leu2210Ile)
c.6580C>A (p.Leu2194Ile)
c.6631C>A (p.Leu2211Ile)
c.6700C>A (p.Leu2234Ile)
c.6667C>A (p.Leu2223Ile)
c.6664C>A (p.Leu2222Ile)
c.6589C>A (p.Leu2197Ile)
3g.4788028C=CA1342337433ITPR1c.6708C= (n.6708C=)
c.6673C= (p.Leu2225=)
c.6652C= (p.Leu2218=)
c.6553C= (p.Leu2185=)
c.6508C= (p.Leu2170=)
n.589C=
c.997-18075C= (n.997-18075C=)
c.2596C=
n.4201C=
c.3032C=
c.4459C= (p.Leu1487=)
c.3605C=
c.6670C= (p.Leu2224=)
c.6625C= (p.Leu2209=)
c.447-58111C=
c.3999C=
n.531C=
c.6697C= (p.Leu2233=)
n.1745C=
n.259C=
n.4182C=
c.6655C= (p.Leu2219=)
c.6628C= (p.Leu2210=)
c.6580C= (p.Leu2194=)
c.6631C= (p.Leu2211=)
c.6700C= (p.Leu2234=)
c.6667C= (p.Leu2223=)
c.6664C= (p.Leu2222=)
c.6589C= (p.Leu2197=)
3g.4788028C>GCA351640605ITPR1c.6708C>G (n.6708C>G)
c.6673C>G (p.Leu2225Val)
c.6652C>G (p.Leu2218Val)
c.6553C>G (p.Leu2185Val)
c.6508C>G (p.Leu2170Val)
n.589C>G
c.997-18075C>G (n.997-18075C>G)
c.2596C>G
n.4201C>G
c.3032C>G
c.4459C>G (p.Leu1487Val)
c.3605C>G
c.6670C>G (p.Leu2224Val)
c.6625C>G (p.Leu2209Val)
c.447-58111C>G
c.3999C>G
n.531C>G
c.6697C>G (p.Leu2233Val)
n.1745C>G
n.259C>G
n.4182C>G
c.6655C>G (p.Leu2219Val)
c.6628C>G (p.Leu2210Val)
c.6580C>G (p.Leu2194Val)
c.6631C>G (p.Leu2211Val)
c.6700C>G (p.Leu2234Val)
c.6667C>G (p.Leu2223Val)
c.6664C>G (p.Leu2222Val)
c.6589C>G (p.Leu2197Val)
3g.4788028C>TCA432322886ITPR1c.6708C>T (n.6708C>T)
c.6673C>T (p.Leu2225=)
c.6652C>T (p.Leu2218=)
c.6553C>T (p.Leu2185=)
c.6508C>T (p.Leu2170=)
n.589C>T
c.997-18075C>T (n.997-18075C>T)
c.2596C>T
n.4201C>T
c.3032C>T
c.4459C>T (p.Leu1487=)
c.3605C>T
c.6670C>T (p.Leu2224=)
c.6625C>T (p.Leu2209=)
c.447-58111C>T
c.3999C>T
n.531C>T
c.6697C>T (p.Leu2233=)
n.1745C>T
n.259C>T
n.4182C>T
c.6655C>T (p.Leu2219=)
c.6628C>T (p.Leu2210=)
c.6580C>T (p.Leu2194=)
c.6631C>T (p.Leu2211=)
c.6700C>T (p.Leu2234=)
c.6667C>T (p.Leu2223=)
c.6664C>T (p.Leu2222=)
c.6589C>T (p.Leu2197=)
 dbSNP gnomAD v2 gnomAD v4
3g.4788029T>ACA351640607ITPR1c.6709T>A (n.6709T>A)
c.6674T>A (p.Leu2225Gln)
c.6653T>A (p.Leu2218Gln)
c.6554T>A (p.Leu2185Gln)
c.6509T>A (p.Leu2170Gln)
n.590T>A
c.997-18074T>A (n.997-18074T>A)
c.2597T>A
n.4202T>A
c.3033T>A
c.4460T>A (p.Leu1487Gln)
c.3606T>A
c.6671T>A (p.Leu2224Gln)
c.6626T>A (p.Leu2209Gln)
c.447-58110T>A
c.4000T>A
n.532T>A
c.6698T>A (p.Leu2233Gln)
n.1746T>A
n.260T>A
n.4183T>A
c.6656T>A (p.Leu2219Gln)
c.6629T>A (p.Leu2210Gln)
c.6581T>A (p.Leu2194Gln)
c.6632T>A (p.Leu2211Gln)
c.6701T>A (p.Leu2234Gln)
c.6668T>A (p.Leu2223Gln)
c.6665T>A (p.Leu2222Gln)
c.6590T>A (p.Leu2197Gln)
3g.4788029T>CCA351640608ITPR1c.6709T>C (n.6709T>C)
c.6674T>C (p.Leu2225Pro)
c.6653T>C (p.Leu2218Pro)
c.6554T>C (p.Leu2185Pro)
c.6509T>C (p.Leu2170Pro)
n.590T>C
c.997-18074T>C (n.997-18074T>C)
c.2597T>C
n.4202T>C
c.3033T>C
c.4460T>C (p.Leu1487Pro)
c.3606T>C
c.6671T>C (p.Leu2224Pro)
c.6626T>C (p.Leu2209Pro)
c.447-58110T>C
c.4000T>C
n.532T>C
c.6698T>C (p.Leu2233Pro)
n.1746T>C
n.260T>C
n.4183T>C
c.6656T>C (p.Leu2219Pro)
c.6629T>C (p.Leu2210Pro)
c.6581T>C (p.Leu2194Pro)
c.6632T>C (p.Leu2211Pro)
c.6701T>C (p.Leu2234Pro)
c.6668T>C (p.Leu2223Pro)
c.6665T>C (p.Leu2222Pro)
c.6590T>C (p.Leu2197Pro)
3g.4788029T>GCA351640606ITPR1c.6709T>G (n.6709T>G)
c.6674T>G (p.Leu2225Arg)
c.6653T>G (p.Leu2218Arg)
c.6554T>G (p.Leu2185Arg)
c.6509T>G (p.Leu2170Arg)
n.590T>G
c.997-18074T>G (n.997-18074T>G)
c.2597T>G
n.4202T>G
c.3033T>G
c.4460T>G (p.Leu1487Arg)
c.3606T>G
c.6671T>G (p.Leu2224Arg)
c.6626T>G (p.Leu2209Arg)
c.447-58110T>G
c.4000T>G
n.532T>G
c.6698T>G (p.Leu2233Arg)
n.1746T>G
n.260T>G
n.4183T>G
c.6656T>G (p.Leu2219Arg)
c.6629T>G (p.Leu2210Arg)
c.6581T>G (p.Leu2194Arg)
c.6632T>G (p.Leu2211Arg)
c.6701T>G (p.Leu2234Arg)
c.6668T>G (p.Leu2223Arg)
c.6665T>G (p.Leu2222Arg)
c.6590T>G (p.Leu2197Arg)
3g.4788030A=CA1342337434ITPR1c.6710A= (n.6710A=)
c.6675A= (p.Leu2225=)
c.6654A= (p.Leu2218=)
c.6555A= (p.Leu2185=)
c.6510A= (p.Leu2170=)
n.591A=
c.997-18073A= (n.997-18073A=)
c.2598A=
n.4203A=
c.3034A=
c.4461A= (p.Leu1487=)
c.3607A=
c.6672A= (p.Leu2224=)
c.6627A= (p.Leu2209=)
c.447-58109A=
c.4001A=
n.533A=
c.6699A= (p.Leu2233=)
n.1747A=
n.261A=
n.4184A=
c.6657A= (p.Leu2219=)
c.6630A= (p.Leu2210=)
c.6582A= (p.Leu2194=)
c.6633A= (p.Leu2211=)
c.6702A= (p.Leu2234=)
c.6669A= (p.Leu2223=)
c.6666A= (p.Leu2222=)
c.6591A= (p.Leu2197=)
3g.4788030A>CCA432322889ITPR1c.6710A>C (n.6710A>C)
c.6675A>C (p.Leu2225=)
c.6654A>C (p.Leu2218=)
c.6555A>C (p.Leu2185=)
c.6510A>C (p.Leu2170=)
n.591A>C
c.997-18073A>C (n.997-18073A>C)
c.2598A>C
n.4203A>C
c.3034A>C
c.4461A>C (p.Leu1487=)
c.3607A>C
c.6672A>C (p.Leu2224=)
c.6627A>C (p.Leu2209=)
c.447-58109A>C
c.4001A>C
n.533A>C
c.6699A>C (p.Leu2233=)
n.1747A>C
n.261A>C
n.4184A>C
c.6657A>C (p.Leu2219=)
c.6630A>C (p.Leu2210=)
c.6582A>C (p.Leu2194=)
c.6633A>C (p.Leu2211=)
c.6702A>C (p.Leu2234=)
c.6669A>C (p.Leu2223=)
c.6666A>C (p.Leu2222=)
c.6591A>C (p.Leu2197=)
3g.4788030A>GCA432322890ITPR1c.6710A>G (n.6710A>G)
c.6675A>G (p.Leu2225=)
c.6654A>G (p.Leu2218=)
c.6555A>G (p.Leu2185=)
c.6510A>G (p.Leu2170=)
n.591A>G
c.997-18073A>G (n.997-18073A>G)
c.2598A>G
n.4203A>G
c.3034A>G
c.4461A>G (p.Leu1487=)
c.3607A>G
c.6672A>G (p.Leu2224=)
c.6627A>G (p.Leu2209=)
c.447-58109A>G
c.4001A>G
n.533A>G
c.6699A>G (p.Leu2233=)
n.1747A>G
n.261A>G
n.4184A>G
c.6657A>G (p.Leu2219=)
c.6630A>G (p.Leu2210=)
c.6582A>G (p.Leu2194=)
c.6633A>G (p.Leu2211=)
c.6702A>G (p.Leu2234=)
c.6669A>G (p.Leu2223=)
c.6666A>G (p.Leu2222=)
c.6591A>G (p.Leu2197=)
 dbSNP
3g.4788030A>TCA432322894ITPR1c.6710A>T (n.6710A>T)
c.6675A>T (p.Leu2225=)
c.6654A>T (p.Leu2218=)
c.6555A>T (p.Leu2185=)
c.6510A>T (p.Leu2170=)
n.591A>T
c.997-18073A>T (n.997-18073A>T)
c.2598A>T
n.4203A>T
c.3034A>T
c.4461A>T (p.Leu1487=)
c.3607A>T
c.6672A>T (p.Leu2224=)
c.6627A>T (p.Leu2209=)
c.447-58109A>T
c.4001A>T
n.533A>T
c.6699A>T (p.Leu2233=)
n.1747A>T
n.261A>T
n.4184A>T
c.6657A>T (p.Leu2219=)
c.6630A>T (p.Leu2210=)
c.6582A>T (p.Leu2194=)
c.6633A>T (p.Leu2211=)
c.6702A>T (p.Leu2234=)
c.6669A>T (p.Leu2223=)
c.6666A>T (p.Leu2222=)
c.6591A>T (p.Leu2197=)
3g.4788031C>ACA432322903ITPR1c.6711C>A (n.6711C>A)
c.6676C>A (p.Arg2226=)
c.6655C>A (p.Arg2219=)
c.6556C>A (p.Arg2186=)
c.6511C>A (p.Arg2171=)
n.592C>A
c.997-18072C>A (n.997-18072C>A)
c.2599C>A
n.4204C>A
c.3035C>A
c.4462C>A (p.Arg1488=)
c.3608C>A
c.6673C>A (p.Arg2225=)
c.6628C>A (p.Arg2210=)
c.447-58108C>A
c.4002C>A
n.534C>A
c.6700C>A (p.Arg2234=)
n.1748C>A
n.262C>A
n.4185C>A
c.6658C>A (p.Arg2220=)
c.6631C>A (p.Arg2211=)
c.6583C>A (p.Arg2195=)
c.6634C>A (p.Arg2212=)
c.6703C>A (p.Arg2235=)
c.6670C>A (p.Arg2224=)
c.6667C>A (p.Arg2223=)
c.6592C>A (p.Arg2198=)
3g.4788031C>GCA351640609ITPR1c.6711C>G (n.6711C>G)
c.6676C>G (p.Arg2226Gly)
c.6655C>G (p.Arg2219Gly)
c.6556C>G (p.Arg2186Gly)
c.6511C>G (p.Arg2171Gly)
n.592C>G
c.997-18072C>G (n.997-18072C>G)
c.2599C>G
n.4204C>G
c.3035C>G
c.4462C>G (p.Arg1488Gly)
c.3608C>G
c.6673C>G (p.Arg2225Gly)
c.6628C>G (p.Arg2210Gly)
c.447-58108C>G
c.4002C>G
n.534C>G
c.6700C>G (p.Arg2234Gly)
n.1748C>G
n.262C>G
n.4185C>G
c.6658C>G (p.Arg2220Gly)
c.6631C>G (p.Arg2211Gly)
c.6583C>G (p.Arg2195Gly)
c.6634C>G (p.Arg2212Gly)
c.6703C>G (p.Arg2235Gly)
c.6670C>G (p.Arg2224Gly)
c.6667C>G (p.Arg2223Gly)
c.6592C>G (p.Arg2198Gly)
3g.4788031C>TCA351640610ITPR1c.6711C>T (n.6711C>T)
c.6676C>T (p.Arg2226Ter)
c.6655C>T (p.Arg2219Ter)
c.6556C>T (p.Arg2186Ter)
c.6511C>T (p.Arg2171Ter)
n.592C>T
c.997-18072C>T (n.997-18072C>T)
c.2599C>T
n.4204C>T
c.3035C>T
c.4462C>T (p.Arg1488Ter)
c.3608C>T
c.6673C>T (p.Arg2225Ter)
c.6628C>T (p.Arg2210Ter)
c.447-58108C>T
c.4002C>T
n.534C>T
c.6700C>T (p.Arg2234Ter)
n.1748C>T
n.262C>T
n.4185C>T
c.6658C>T (p.Arg2220Ter)
c.6631C>T (p.Arg2211Ter)
c.6583C>T (p.Arg2195Ter)
c.6634C>T (p.Arg2212Ter)
c.6703C>T (p.Arg2235Ter)
c.6670C>T (p.Arg2224Ter)
c.6667C>T (p.Arg2223Ter)
c.6592C>T (p.Arg2198Ter)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.4788032G>ACA2232655ITPR1c.6712G>A (n.6712G>A)
c.6677G>A (p.Arg2226Gln)
c.6656G>A (p.Arg2219Gln)
c.6557G>A (p.Arg2186Gln)
c.6512G>A (p.Arg2171Gln)
n.593G>A
c.997-18071G>A (n.997-18071G>A)
c.2600G>A
n.4205G>A
c.3036G>A
c.4463G>A (p.Arg1488Gln)
c.3609G>A
c.6674G>A (p.Arg2225Gln)
c.6629G>A (p.Arg2210Gln)
c.447-58107G>A
c.4003G>A
n.535G>A
c.6701G>A (p.Arg2234Gln)
n.1749G>A
n.263G>A
n.4186G>A
c.6659G>A (p.Arg2220Gln)
c.6632G>A (p.Arg2211Gln)
c.6584G>A (p.Arg2195Gln)
c.6635G>A (p.Arg2212Gln)
c.6704G>A (p.Arg2235Gln)
c.6671G>A (p.Arg2224Gln)
c.6668G>A (p.Arg2223Gln)
c.6593G>A (p.Arg2198Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788032G>CCA351640611ITPR1c.6712G>C (n.6712G>C)
c.6677G>C (p.Arg2226Pro)
c.6656G>C (p.Arg2219Pro)
c.6557G>C (p.Arg2186Pro)
c.6512G>C (p.Arg2171Pro)
n.593G>C
c.997-18071G>C (n.997-18071G>C)
c.2600G>C
n.4205G>C
c.3036G>C
c.4463G>C (p.Arg1488Pro)
c.3609G>C
c.6674G>C (p.Arg2225Pro)
c.6629G>C (p.Arg2210Pro)
c.447-58107G>C
c.4003G>C
n.535G>C
c.6701G>C (p.Arg2234Pro)
n.1749G>C
n.263G>C
n.4186G>C
c.6659G>C (p.Arg2220Pro)
c.6632G>C (p.Arg2211Pro)
c.6584G>C (p.Arg2195Pro)
c.6635G>C (p.Arg2212Pro)
c.6704G>C (p.Arg2235Pro)
c.6671G>C (p.Arg2224Pro)
c.6668G>C (p.Arg2223Pro)
c.6593G>C (p.Arg2198Pro)
3g.4788032G=CA1342337435ITPR1c.6712G= (n.6712G=)
c.6677G= (p.Arg2226=)
c.6656G= (p.Arg2219=)
c.6557G= (p.Arg2186=)
c.6512G= (p.Arg2171=)
n.593G=
c.997-18071G= (n.997-18071G=)
c.2600G=
n.4205G=
c.3036G=
c.4463G= (p.Arg1488=)
c.3609G=
c.6674G= (p.Arg2225=)
c.6629G= (p.Arg2210=)
c.447-58107G=
c.4003G=
n.535G=
c.6701G= (p.Arg2234=)
n.1749G=
n.263G=
n.4186G=
c.6659G= (p.Arg2220=)
c.6632G= (p.Arg2211=)
c.6584G= (p.Arg2195=)
c.6635G= (p.Arg2212=)
c.6704G= (p.Arg2235=)
c.6671G= (p.Arg2224=)
c.6668G= (p.Arg2223=)
c.6593G= (p.Arg2198=)
3g.4788032G>TCA351640612ITPR1c.6712G>T (n.6712G>T)
c.6677G>T (p.Arg2226Leu)
c.6656G>T (p.Arg2219Leu)
c.6557G>T (p.Arg2186Leu)
c.6512G>T (p.Arg2171Leu)
n.593G>T
c.997-18071G>T (n.997-18071G>T)
c.2600G>T
n.4205G>T
c.3036G>T
c.4463G>T (p.Arg1488Leu)
c.3609G>T
c.6674G>T (p.Arg2225Leu)
c.6629G>T (p.Arg2210Leu)
c.447-58107G>T
c.4003G>T
n.535G>T
c.6701G>T (p.Arg2234Leu)
n.1749G>T
n.263G>T
n.4186G>T
c.6659G>T (p.Arg2220Leu)
c.6632G>T (p.Arg2211Leu)
c.6584G>T (p.Arg2195Leu)
c.6635G>T (p.Arg2212Leu)
c.6704G>T (p.Arg2235Leu)
c.6671G>T (p.Arg2224Leu)
c.6668G>T (p.Arg2223Leu)
c.6593G>T (p.Arg2198Leu)
3g.4788033A>CCA432322918ITPR1c.6713A>C (n.6713A>C)
c.6678A>C (p.Arg2226=)
c.6657A>C (p.Arg2219=)
c.6558A>C (p.Arg2186=)
c.6513A>C (p.Arg2171=)
n.594A>C
c.997-18070A>C (n.997-18070A>C)
c.2601A>C
n.4206A>C
c.3037A>C
c.4464A>C (p.Arg1488=)
c.3610A>C
c.6675A>C (p.Arg2225=)
c.6630A>C (p.Arg2210=)
c.447-58106A>C
c.4004A>C
n.536A>C
c.6702A>C (p.Arg2234=)
n.1750A>C
n.264A>C
n.4187A>C
c.6660A>C (p.Arg2220=)
c.6633A>C (p.Arg2211=)
c.6585A>C (p.Arg2195=)
c.6636A>C (p.Arg2212=)
c.6705A>C (p.Arg2235=)
c.6672A>C (p.Arg2224=)
c.6669A>C (p.Arg2223=)
c.6594A>C (p.Arg2198=)
3g.4788033A>GCA432322920ITPR1c.6713A>G (n.6713A>G)
c.6678A>G (p.Arg2226=)
c.6657A>G (p.Arg2219=)
c.6558A>G (p.Arg2186=)
c.6513A>G (p.Arg2171=)
n.594A>G
c.997-18070A>G (n.997-18070A>G)
c.2601A>G
n.4206A>G
c.3037A>G
c.4464A>G (p.Arg1488=)
c.3610A>G
c.6675A>G (p.Arg2225=)
c.6630A>G (p.Arg2210=)
c.447-58106A>G
c.4004A>G
n.536A>G
c.6702A>G (p.Arg2234=)
n.1750A>G
n.264A>G
n.4187A>G
c.6660A>G (p.Arg2220=)
c.6633A>G (p.Arg2211=)
c.6585A>G (p.Arg2195=)
c.6636A>G (p.Arg2212=)
c.6705A>G (p.Arg2235=)
c.6672A>G (p.Arg2224=)
c.6669A>G (p.Arg2223=)
c.6594A>G (p.Arg2198=)
 gnomAD v4
3g.4788033A>TCA432322925ITPR1c.6713A>T (n.6713A>T)
c.6678A>T (p.Arg2226=)
c.6657A>T (p.Arg2219=)
c.6558A>T (p.Arg2186=)
c.6513A>T (p.Arg2171=)
n.594A>T
c.997-18070A>T (n.997-18070A>T)
c.2601A>T
n.4206A>T
c.3037A>T
c.4464A>T (p.Arg1488=)
c.3610A>T
c.6675A>T (p.Arg2225=)
c.6630A>T (p.Arg2210=)
c.447-58106A>T
c.4004A>T
n.536A>T
c.6702A>T (p.Arg2234=)
n.1750A>T
n.264A>T
n.4187A>T
c.6660A>T (p.Arg2220=)
c.6633A>T (p.Arg2211=)
c.6585A>T (p.Arg2195=)
c.6636A>T (p.Arg2212=)
c.6705A>T (p.Arg2235=)
c.6672A>T (p.Arg2224=)
c.6669A>T (p.Arg2223=)
c.6594A>T (p.Arg2198=)
3g.4788034A>CCA351640613ITPR1c.6714A>C (n.6714A>C)
c.6679A>C (p.Ile2227Leu)
c.6658A>C (p.Ile2220Leu)
c.6559A>C (p.Ile2187Leu)
c.6514A>C (p.Ile2172Leu)
n.595A>C
c.997-18069A>C (n.997-18069A>C)
c.2602A>C
n.4207A>C
c.3038A>C
c.4465A>C (p.Ile1489Leu)
c.3611A>C
c.6676A>C (p.Ile2226Leu)
c.6631A>C (p.Ile2211Leu)
c.447-58105A>C
c.4005A>C
n.537A>C
c.6703A>C (p.Ile2235Leu)
n.1751A>C
n.265A>C
n.4188A>C
c.6661A>C (p.Ile2221Leu)
c.6634A>C (p.Ile2212Leu)
c.6586A>C (p.Ile2196Leu)
c.6637A>C (p.Ile2213Leu)
c.6706A>C (p.Ile2236Leu)
c.6673A>C (p.Ile2225Leu)
c.6670A>C (p.Ile2224Leu)
c.6595A>C (p.Ile2199Leu)
3g.4788034A>GCA351640614ITPR1c.6714A>G (n.6714A>G)
c.6679A>G (p.Ile2227Val)
c.6658A>G (p.Ile2220Val)
c.6559A>G (p.Ile2187Val)
c.6514A>G (p.Ile2172Val)
n.595A>G
c.997-18069A>G (n.997-18069A>G)
c.2602A>G
n.4207A>G
c.3038A>G
c.4465A>G (p.Ile1489Val)
c.3611A>G
c.6676A>G (p.Ile2226Val)
c.6631A>G (p.Ile2211Val)
c.447-58105A>G
c.4005A>G
n.537A>G
c.6703A>G (p.Ile2235Val)
n.1751A>G
n.265A>G
n.4188A>G
c.6661A>G (p.Ile2221Val)
c.6634A>G (p.Ile2212Val)
c.6586A>G (p.Ile2196Val)
c.6637A>G (p.Ile2213Val)
c.6706A>G (p.Ile2236Val)
c.6673A>G (p.Ile2225Val)
c.6670A>G (p.Ile2224Val)
c.6595A>G (p.Ile2199Val)
3g.4788034A>TCA351640615ITPR1c.6714A>T (n.6714A>T)
c.6679A>T (p.Ile2227Phe)
c.6658A>T (p.Ile2220Phe)
c.6559A>T (p.Ile2187Phe)
c.6514A>T (p.Ile2172Phe)
n.595A>T
c.997-18069A>T (n.997-18069A>T)
c.2602A>T
n.4207A>T
c.3038A>T
c.4465A>T (p.Ile1489Phe)
c.3611A>T
c.6676A>T (p.Ile2226Phe)
c.6631A>T (p.Ile2211Phe)
c.447-58105A>T
c.4005A>T
n.537A>T
c.6703A>T (p.Ile2235Phe)
n.1751A>T
n.265A>T
n.4188A>T
c.6661A>T (p.Ile2221Phe)
c.6634A>T (p.Ile2212Phe)
c.6586A>T (p.Ile2196Phe)
c.6637A>T (p.Ile2213Phe)
c.6706A>T (p.Ile2236Phe)
c.6673A>T (p.Ile2225Phe)
c.6670A>T (p.Ile2224Phe)
c.6595A>T (p.Ile2199Phe)
3g.4788035T>ACA351640616ITPR1c.6715T>A (n.6715T>A)
c.6680T>A (p.Ile2227Asn)
c.6659T>A (p.Ile2220Asn)
c.6560T>A (p.Ile2187Asn)
c.6515T>A (p.Ile2172Asn)
n.596T>A
c.997-18068T>A (n.997-18068T>A)
c.2603T>A
n.4208T>A
c.3039T>A
c.4466T>A (p.Ile1489Asn)
c.3612T>A
c.6677T>A (p.Ile2226Asn)
c.6632T>A (p.Ile2211Asn)
c.447-58104T>A
c.4006T>A
n.538T>A
c.6704T>A (p.Ile2235Asn)
n.1752T>A
n.266T>A
n.4189T>A
c.6662T>A (p.Ile2221Asn)
c.6635T>A (p.Ile2212Asn)
c.6587T>A (p.Ile2196Asn)
c.6638T>A (p.Ile2213Asn)
c.6707T>A (p.Ile2236Asn)
c.6674T>A (p.Ile2225Asn)
c.6671T>A (p.Ile2224Asn)
c.6596T>A (p.Ile2199Asn)
3g.4788035T>CCA351640617ITPR1c.6715T>C (n.6715T>C)
c.6680T>C (p.Ile2227Thr)
c.6659T>C (p.Ile2220Thr)
c.6560T>C (p.Ile2187Thr)
c.6515T>C (p.Ile2172Thr)
n.596T>C
c.997-18068T>C (n.997-18068T>C)
c.2603T>C
n.4208T>C
c.3039T>C
c.4466T>C (p.Ile1489Thr)
c.3612T>C
c.6677T>C (p.Ile2226Thr)
c.6632T>C (p.Ile2211Thr)
c.447-58104T>C
c.4006T>C
n.538T>C
c.6704T>C (p.Ile2235Thr)
n.1752T>C
n.266T>C
n.4189T>C
c.6662T>C (p.Ile2221Thr)
c.6635T>C (p.Ile2212Thr)
c.6587T>C (p.Ile2196Thr)
c.6638T>C (p.Ile2213Thr)
c.6707T>C (p.Ile2236Thr)
c.6674T>C (p.Ile2225Thr)
c.6671T>C (p.Ile2224Thr)
c.6596T>C (p.Ile2199Thr)
3g.4788035T>GCA351640618ITPR1c.6715T>G (n.6715T>G)
c.6680T>G (p.Ile2227Ser)
c.6659T>G (p.Ile2220Ser)
c.6560T>G (p.Ile2187Ser)
c.6515T>G (p.Ile2172Ser)
n.596T>G
c.997-18068T>G (n.997-18068T>G)
c.2603T>G
n.4208T>G
c.3039T>G
c.4466T>G (p.Ile1489Ser)
c.3612T>G
c.6677T>G (p.Ile2226Ser)
c.6632T>G (p.Ile2211Ser)
c.447-58104T>G
c.4006T>G
n.538T>G
c.6704T>G (p.Ile2235Ser)
n.1752T>G
n.266T>G
n.4189T>G
c.6662T>G (p.Ile2221Ser)
c.6635T>G (p.Ile2212Ser)
c.6587T>G (p.Ile2196Ser)
c.6638T>G (p.Ile2213Ser)
c.6707T>G (p.Ile2236Ser)
c.6674T>G (p.Ile2225Ser)
c.6671T>G (p.Ile2224Ser)
c.6596T>G (p.Ile2199Ser)
3g.4788036T>ACA432322952ITPR1c.6716T>A (n.6716T>A)
c.6681T>A (p.Ile2227=)
c.6660T>A (p.Ile2220=)
c.6561T>A (p.Ile2187=)
c.6516T>A (p.Ile2172=)
n.597T>A
c.997-18067T>A (n.997-18067T>A)
c.2604T>A
n.4209T>A
c.3040T>A
c.4467T>A (p.Ile1489=)
c.3613T>A
c.6678T>A (p.Ile2226=)
c.6633T>A (p.Ile2211=)
c.447-58103T>A
c.4007T>A
n.539T>A
c.6705T>A (p.Ile2235=)
n.1753T>A
n.267T>A
n.4190T>A
c.6663T>A (p.Ile2221=)
c.6636T>A (p.Ile2212=)
c.6588T>A (p.Ile2196=)
c.6639T>A (p.Ile2213=)
c.6708T>A (p.Ile2236=)
c.6675T>A (p.Ile2225=)
c.6672T>A (p.Ile2224=)
c.6597T>A (p.Ile2199=)
3g.4788036T>CCA432322956ITPR1c.6716T>C (n.6716T>C)
c.6681T>C (p.Ile2227=)
c.6660T>C (p.Ile2220=)
c.6561T>C (p.Ile2187=)
c.6516T>C (p.Ile2172=)
n.597T>C
c.997-18067T>C (n.997-18067T>C)
c.2604T>C
n.4209T>C
c.3040T>C
c.4467T>C (p.Ile1489=)
c.3613T>C
c.6678T>C (p.Ile2226=)
c.6633T>C (p.Ile2211=)
c.447-58103T>C
c.4007T>C
n.539T>C
c.6705T>C (p.Ile2235=)
n.1753T>C
n.267T>C
n.4190T>C
c.6663T>C (p.Ile2221=)
c.6636T>C (p.Ile2212=)
c.6588T>C (p.Ile2196=)
c.6639T>C (p.Ile2213=)
c.6708T>C (p.Ile2236=)
c.6675T>C (p.Ile2225=)
c.6672T>C (p.Ile2224=)
c.6597T>C (p.Ile2199=)
3g.4788036T>GCA351640619ITPR1c.6716T>G (n.6716T>G)
c.6681T>G (p.Ile2227Met)
c.6660T>G (p.Ile2220Met)
c.6561T>G (p.Ile2187Met)
c.6516T>G (p.Ile2172Met)
n.597T>G
c.997-18067T>G (n.997-18067T>G)
c.2604T>G
n.4209T>G
c.3040T>G
c.4467T>G (p.Ile1489Met)
c.3613T>G
c.6678T>G (p.Ile2226Met)
c.6633T>G (p.Ile2211Met)
c.447-58103T>G
c.4007T>G
n.539T>G
c.6705T>G (p.Ile2235Met)
n.1753T>G
n.267T>G
n.4190T>G
c.6663T>G (p.Ile2221Met)
c.6636T>G (p.Ile2212Met)
c.6588T>G (p.Ile2196Met)
c.6639T>G (p.Ile2213Met)
c.6708T>G (p.Ile2236Met)
c.6675T>G (p.Ile2225Met)
c.6672T>G (p.Ile2224Met)
c.6597T>G (p.Ile2199Met)
3g.4788037T>ACA351640622ITPR1c.6717T>A (n.6717T>A)
c.6682T>A (p.Tyr2228Asn)
c.6661T>A (p.Tyr2221Asn)
c.6562T>A (p.Tyr2188Asn)
c.6517T>A (p.Tyr2173Asn)
n.598T>A
c.997-18066T>A (n.997-18066T>A)
c.2605T>A
n.4210T>A
c.3041T>A
c.4468T>A (p.Tyr1490Asn)
c.3614T>A
c.6679T>A (p.Tyr2227Asn)
c.6634T>A (p.Tyr2212Asn)
c.447-58102T>A
c.4008T>A
n.540T>A
c.6706T>A (p.Tyr2236Asn)
n.1754T>A
n.268T>A
n.4191T>A
c.6664T>A (p.Tyr2222Asn)
c.6637T>A (p.Tyr2213Asn)
c.6589T>A (p.Tyr2197Asn)
c.6640T>A (p.Tyr2214Asn)
c.6709T>A (p.Tyr2237Asn)
c.6676T>A (p.Tyr2226Asn)
c.6673T>A (p.Tyr2225Asn)
c.6598T>A (p.Tyr2200Asn)
3g.4788037T>CCA351640621ITPR1c.6717T>C (n.6717T>C)
c.6682T>C (p.Tyr2228His)
c.6661T>C (p.Tyr2221His)
c.6562T>C (p.Tyr2188His)
c.6517T>C (p.Tyr2173His)
n.598T>C
c.997-18066T>C (n.997-18066T>C)
c.2605T>C
n.4210T>C
c.3041T>C
c.4468T>C (p.Tyr1490His)
c.3614T>C
c.6679T>C (p.Tyr2227His)
c.6634T>C (p.Tyr2212His)
c.447-58102T>C
c.4008T>C
n.540T>C
c.6706T>C (p.Tyr2236His)
n.1754T>C
n.268T>C
n.4191T>C
c.6664T>C (p.Tyr2222His)
c.6637T>C (p.Tyr2213His)
c.6589T>C (p.Tyr2197His)
c.6640T>C (p.Tyr2214His)
c.6709T>C (p.Tyr2237His)
c.6676T>C (p.Tyr2226His)
c.6673T>C (p.Tyr2225His)
c.6598T>C (p.Tyr2200His)
3g.4788037T>GCA351640620ITPR1c.6717T>G (n.6717T>G)
c.6682T>G (p.Tyr2228Asp)
c.6661T>G (p.Tyr2221Asp)
c.6562T>G (p.Tyr2188Asp)
c.6517T>G (p.Tyr2173Asp)
n.598T>G
c.997-18066T>G (n.997-18066T>G)
c.2605T>G
n.4210T>G
c.3041T>G
c.4468T>G (p.Tyr1490Asp)
c.3614T>G
c.6679T>G (p.Tyr2227Asp)
c.6634T>G (p.Tyr2212Asp)
c.447-58102T>G
c.4008T>G
n.540T>G
c.6706T>G (p.Tyr2236Asp)
n.1754T>G
n.268T>G
n.4191T>G
c.6664T>G (p.Tyr2222Asp)
c.6637T>G (p.Tyr2213Asp)
c.6589T>G (p.Tyr2197Asp)
c.6640T>G (p.Tyr2214Asp)
c.6709T>G (p.Tyr2237Asp)
c.6676T>G (p.Tyr2226Asp)
c.6673T>G (p.Tyr2225Asp)
c.6598T>G (p.Tyr2200Asp)
3g.4788038A>CCA351640623ITPR1c.6718A>C (n.6718A>C)
c.6683A>C (p.Tyr2228Ser)
c.6662A>C (p.Tyr2221Ser)
c.6563A>C (p.Tyr2188Ser)
c.6518A>C (p.Tyr2173Ser)
n.599A>C
c.997-18065A>C (n.997-18065A>C)
c.2606A>C
n.4211A>C
c.3042A>C
c.4469A>C (p.Tyr1490Ser)
c.3615A>C
c.6680A>C (p.Tyr2227Ser)
c.6635A>C (p.Tyr2212Ser)
c.447-58101A>C
c.4009A>C
n.541A>C
c.6707A>C (p.Tyr2236Ser)
n.1755A>C
n.269A>C
n.4192A>C
c.6665A>C (p.Tyr2222Ser)
c.6638A>C (p.Tyr2213Ser)
c.6590A>C (p.Tyr2197Ser)
c.6641A>C (p.Tyr2214Ser)
c.6710A>C (p.Tyr2237Ser)
c.6677A>C (p.Tyr2226Ser)
c.6674A>C (p.Tyr2225Ser)
c.6599A>C (p.Tyr2200Ser)
3g.4788038A>GCA351640624ITPR1c.6718A>G (n.6718A>G)
c.6683A>G (p.Tyr2228Cys)
c.6662A>G (p.Tyr2221Cys)
c.6563A>G (p.Tyr2188Cys)
c.6518A>G (p.Tyr2173Cys)
n.599A>G
c.997-18065A>G (n.997-18065A>G)
c.2606A>G
n.4211A>G
c.3042A>G
c.4469A>G (p.Tyr1490Cys)
c.3615A>G
c.6680A>G (p.Tyr2227Cys)
c.6635A>G (p.Tyr2212Cys)
c.447-58101A>G
c.4009A>G
n.541A>G
c.6707A>G (p.Tyr2236Cys)
n.1755A>G
n.269A>G
n.4192A>G
c.6665A>G (p.Tyr2222Cys)
c.6638A>G (p.Tyr2213Cys)
c.6590A>G (p.Tyr2197Cys)
c.6641A>G (p.Tyr2214Cys)
c.6710A>G (p.Tyr2237Cys)
c.6677A>G (p.Tyr2226Cys)
c.6674A>G (p.Tyr2225Cys)
c.6599A>G (p.Tyr2200Cys)
3g.4788038A>TCA351640625ITPR1c.6718A>T (n.6718A>T)
c.6683A>T (p.Tyr2228Phe)
c.6662A>T (p.Tyr2221Phe)
c.6563A>T (p.Tyr2188Phe)
c.6518A>T (p.Tyr2173Phe)
n.599A>T
c.997-18065A>T (n.997-18065A>T)
c.2606A>T
n.4211A>T
c.3042A>T
c.4469A>T (p.Tyr1490Phe)
c.3615A>T
c.6680A>T (p.Tyr2227Phe)
c.6635A>T (p.Tyr2212Phe)
c.447-58101A>T
c.4009A>T
n.541A>T
c.6707A>T (p.Tyr2236Phe)
n.1755A>T
n.269A>T
n.4192A>T
c.6665A>T (p.Tyr2222Phe)
c.6638A>T (p.Tyr2213Phe)
c.6590A>T (p.Tyr2197Phe)
c.6641A>T (p.Tyr2214Phe)
c.6710A>T (p.Tyr2237Phe)
c.6677A>T (p.Tyr2226Phe)
c.6674A>T (p.Tyr2225Phe)
c.6599A>T (p.Tyr2200Phe)
3g.4788039C>ACA351640626ITPR1c.6719C>A (n.6719C>A)
c.6684C>A (p.Tyr2228Ter)
c.6663C>A (p.Tyr2221Ter)
c.6564C>A (p.Tyr2188Ter)
c.6519C>A (p.Tyr2173Ter)
n.600C>A
c.997-18064C>A (n.997-18064C>A)
c.2607C>A
n.4212C>A
c.3043C>A
c.4470C>A (p.Tyr1490Ter)
c.3616C>A
c.6681C>A (p.Tyr2227Ter)
c.6636C>A (p.Tyr2212Ter)
c.447-58100C>A
c.4010C>A
n.542C>A
c.6708C>A (p.Tyr2236Ter)
n.1756C>A
n.270C>A
n.4193C>A
c.6666C>A (p.Tyr2222Ter)
c.6639C>A (p.Tyr2213Ter)
c.6591C>A (p.Tyr2197Ter)
c.6642C>A (p.Tyr2214Ter)
c.6711C>A (p.Tyr2237Ter)
c.6678C>A (p.Tyr2226Ter)
c.6675C>A (p.Tyr2225Ter)
c.6600C>A (p.Tyr2200Ter)
3g.4788039C>GCA351640627ITPR1c.6719C>G (n.6719C>G)
c.6684C>G (p.Tyr2228Ter)
c.6663C>G (p.Tyr2221Ter)
c.6564C>G (p.Tyr2188Ter)
c.6519C>G (p.Tyr2173Ter)
n.600C>G
c.997-18064C>G (n.997-18064C>G)
c.2607C>G
n.4212C>G
c.3043C>G
c.4470C>G (p.Tyr1490Ter)
c.3616C>G
c.6681C>G (p.Tyr2227Ter)
c.6636C>G (p.Tyr2212Ter)
c.447-58100C>G
c.4010C>G
n.542C>G
c.6708C>G (p.Tyr2236Ter)
n.1756C>G
n.270C>G
n.4193C>G
c.6666C>G (p.Tyr2222Ter)
c.6639C>G (p.Tyr2213Ter)
c.6591C>G (p.Tyr2197Ter)
c.6642C>G (p.Tyr2214Ter)
c.6711C>G (p.Tyr2237Ter)
c.6678C>G (p.Tyr2226Ter)
c.6675C>G (p.Tyr2225Ter)
c.6600C>G (p.Tyr2200Ter)
3g.4788039C>TCA432322976ITPR1c.6719C>T (n.6719C>T)
c.6684C>T (p.Tyr2228=)
c.6663C>T (p.Tyr2221=)
c.6564C>T (p.Tyr2188=)
c.6519C>T (p.Tyr2173=)
n.600C>T
c.997-18064C>T (n.997-18064C>T)
c.2607C>T
n.4212C>T
c.3043C>T
c.4470C>T (p.Tyr1490=)
c.3616C>T
c.6681C>T (p.Tyr2227=)
c.6636C>T (p.Tyr2212=)
c.447-58100C>T
c.4010C>T
n.542C>T
c.6708C>T (p.Tyr2236=)
n.1756C>T
n.270C>T
n.4193C>T
c.6666C>T (p.Tyr2222=)
c.6639C>T (p.Tyr2213=)
c.6591C>T (p.Tyr2197=)
c.6642C>T (p.Tyr2214=)
c.6711C>T (p.Tyr2237=)
c.6678C>T (p.Tyr2226=)
c.6675C>T (p.Tyr2225=)
c.6600C>T (p.Tyr2200=)
3g.4788040T>ACA351640628ITPR1c.6720T>A (n.6720T>A)
c.6685T>A (p.Tyr2229Asn)
c.6664T>A (p.Tyr2222Asn)
c.6565T>A (p.Tyr2189Asn)
c.6520T>A (p.Tyr2174Asn)
n.601T>A
c.997-18063T>A (n.997-18063T>A)
c.2608T>A
n.4213T>A
c.3044T>A
c.4471T>A (p.Tyr1491Asn)
c.3617T>A
c.6682T>A (p.Tyr2228Asn)
c.6637T>A (p.Tyr2213Asn)
c.447-58099T>A
c.4011T>A
n.543T>A
c.6709T>A (p.Tyr2237Asn)
n.1757T>A
n.271T>A
n.4194T>A
c.6667T>A (p.Tyr2223Asn)
c.6640T>A (p.Tyr2214Asn)
c.6592T>A (p.Tyr2198Asn)
c.6643T>A (p.Tyr2215Asn)
c.6712T>A (p.Tyr2238Asn)
c.6679T>A (p.Tyr2227Asn)
c.6676T>A (p.Tyr2226Asn)
c.6601T>A (p.Tyr2201Asn)
3g.4788040T>CCA351640629ITPR1c.6720T>C (n.6720T>C)
c.6685T>C (p.Tyr2229His)
c.6664T>C (p.Tyr2222His)
c.6565T>C (p.Tyr2189His)
c.6520T>C (p.Tyr2174His)
n.601T>C
c.997-18063T>C (n.997-18063T>C)
c.2608T>C
n.4213T>C
c.3044T>C
c.4471T>C (p.Tyr1491His)
c.3617T>C
c.6682T>C (p.Tyr2228His)
c.6637T>C (p.Tyr2213His)
c.447-58099T>C
c.4011T>C
n.543T>C
c.6709T>C (p.Tyr2237His)
n.1757T>C
n.271T>C
n.4194T>C
c.6667T>C (p.Tyr2223His)
c.6640T>C (p.Tyr2214His)
c.6592T>C (p.Tyr2198His)
c.6643T>C (p.Tyr2215His)
c.6712T>C (p.Tyr2238His)
c.6679T>C (p.Tyr2227His)
c.6676T>C (p.Tyr2226His)
c.6601T>C (p.Tyr2201His)
 gnomAD v4
3g.4788040T>GCA351640630ITPR1c.6720T>G (n.6720T>G)
c.6685T>G (p.Tyr2229Asp)
c.6664T>G (p.Tyr2222Asp)
c.6565T>G (p.Tyr2189Asp)
c.6520T>G (p.Tyr2174Asp)
n.601T>G
c.997-18063T>G (n.997-18063T>G)
c.2608T>G
n.4213T>G
c.3044T>G
c.4471T>G (p.Tyr1491Asp)
c.3617T>G
c.6682T>G (p.Tyr2228Asp)
c.6637T>G (p.Tyr2213Asp)
c.447-58099T>G
c.4011T>G
n.543T>G
c.6709T>G (p.Tyr2237Asp)
n.1757T>G
n.271T>G
n.4194T>G
c.6667T>G (p.Tyr2223Asp)
c.6640T>G (p.Tyr2214Asp)
c.6592T>G (p.Tyr2198Asp)
c.6643T>G (p.Tyr2215Asp)
c.6712T>G (p.Tyr2238Asp)
c.6679T>G (p.Tyr2227Asp)
c.6676T>G (p.Tyr2226Asp)
c.6601T>G (p.Tyr2201Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.4788040T=CA1342337436ITPR1c.6720T= (n.6720T=)
c.6685T= (p.Tyr2229=)
c.6664T= (p.Tyr2222=)
c.6565T= (p.Tyr2189=)
c.6520T= (p.Tyr2174=)
n.601T=
c.997-18063T= (n.997-18063T=)
c.2608T=
n.4213T=
c.3044T=
c.4471T= (p.Tyr1491=)
c.3617T=
c.6682T= (p.Tyr2228=)
c.6637T= (p.Tyr2213=)
c.447-58099T=
c.4011T=
n.543T=
c.6709T= (p.Tyr2237=)
n.1757T=
n.271T=
n.4194T=
c.6667T= (p.Tyr2223=)
c.6640T= (p.Tyr2214=)
c.6592T= (p.Tyr2198=)
c.6643T= (p.Tyr2215=)
c.6712T= (p.Tyr2238=)
c.6679T= (p.Tyr2227=)
c.6676T= (p.Tyr2226=)
c.6601T= (p.Tyr2201=)
3g.4788041A=CA1342337437ITPR1c.6721A= (n.6721A=)
c.6686A= (p.Tyr2229=)
c.6665A= (p.Tyr2222=)
c.6566A= (p.Tyr2189=)
c.6521A= (p.Tyr2174=)
n.602A=
c.997-18062A= (n.997-18062A=)
c.2609A=
n.4214A=
c.3045A=
c.4472A= (p.Tyr1491=)
c.3618A=
c.6683A= (p.Tyr2228=)
c.6638A= (p.Tyr2213=)
c.447-58098A=
c.4012A=
n.544A=
c.6710A= (p.Tyr2237=)
n.1758A=
n.272A=
n.4195A=
c.6668A= (p.Tyr2223=)
c.6641A= (p.Tyr2214=)
c.6593A= (p.Tyr2198=)
c.6644A= (p.Tyr2215=)
c.6713A= (p.Tyr2238=)
c.6680A= (p.Tyr2227=)
c.6677A= (p.Tyr2226=)
c.6602A= (p.Tyr2201=)
3g.4788041A>CCA2232656ITPR1c.6721A>C (n.6721A>C)
c.6686A>C (p.Tyr2229Ser)
c.6665A>C (p.Tyr2222Ser)
c.6566A>C (p.Tyr2189Ser)
c.6521A>C (p.Tyr2174Ser)
n.602A>C
c.997-18062A>C (n.997-18062A>C)
c.2609A>C
n.4214A>C
c.3045A>C
c.4472A>C (p.Tyr1491Ser)
c.3618A>C
c.6683A>C (p.Tyr2228Ser)
c.6638A>C (p.Tyr2213Ser)
c.447-58098A>C
c.4012A>C
n.544A>C
c.6710A>C (p.Tyr2237Ser)
n.1758A>C
n.272A>C
n.4195A>C
c.6668A>C (p.Tyr2223Ser)
c.6641A>C (p.Tyr2214Ser)
c.6593A>C (p.Tyr2198Ser)
c.6644A>C (p.Tyr2215Ser)
c.6713A>C (p.Tyr2238Ser)
c.6680A>C (p.Tyr2227Ser)
c.6677A>C (p.Tyr2226Ser)
c.6602A>C (p.Tyr2201Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788041A>GCA351640631ITPR1c.6721A>G (n.6721A>G)
c.6686A>G (p.Tyr2229Cys)
c.6665A>G (p.Tyr2222Cys)
c.6566A>G (p.Tyr2189Cys)
c.6521A>G (p.Tyr2174Cys)
n.602A>G
c.997-18062A>G (n.997-18062A>G)
c.2609A>G
n.4214A>G
c.3045A>G
c.4472A>G (p.Tyr1491Cys)
c.3618A>G
c.6683A>G (p.Tyr2228Cys)
c.6638A>G (p.Tyr2213Cys)
c.447-58098A>G
c.4012A>G
n.544A>G
c.6710A>G (p.Tyr2237Cys)
n.1758A>G
n.272A>G
n.4195A>G
c.6668A>G (p.Tyr2223Cys)
c.6641A>G (p.Tyr2214Cys)
c.6593A>G (p.Tyr2198Cys)
c.6644A>G (p.Tyr2215Cys)
c.6713A>G (p.Tyr2238Cys)
c.6680A>G (p.Tyr2227Cys)
c.6677A>G (p.Tyr2226Cys)
c.6602A>G (p.Tyr2201Cys)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.4788041A>TCA351640632ITPR1c.6721A>T (n.6721A>T)
c.6686A>T (p.Tyr2229Phe)
c.6665A>T (p.Tyr2222Phe)
c.6566A>T (p.Tyr2189Phe)
c.6521A>T (p.Tyr2174Phe)
n.602A>T
c.997-18062A>T (n.997-18062A>T)
c.2609A>T
n.4214A>T
c.3045A>T
c.4472A>T (p.Tyr1491Phe)
c.3618A>T
c.6683A>T (p.Tyr2228Phe)
c.6638A>T (p.Tyr2213Phe)
c.447-58098A>T
c.4012A>T
n.544A>T
c.6710A>T (p.Tyr2237Phe)
n.1758A>T
n.272A>T
n.4195A>T
c.6668A>T (p.Tyr2223Phe)
c.6641A>T (p.Tyr2214Phe)
c.6593A>T (p.Tyr2198Phe)
c.6644A>T (p.Tyr2215Phe)
c.6713A>T (p.Tyr2238Phe)
c.6680A>T (p.Tyr2227Phe)
c.6677A>T (p.Tyr2226Phe)
c.6602A>T (p.Tyr2201Phe)
3g.4788042T>ACA351640633ITPR1c.6722T>A (n.6722T>A)
c.6687T>A (p.Tyr2229Ter)
c.6666T>A (p.Tyr2222Ter)
c.6567T>A (p.Tyr2189Ter)
c.6522T>A (p.Tyr2174Ter)
n.603T>A
c.997-18061T>A (n.997-18061T>A)
c.2610T>A
n.4215T>A
c.3046T>A
c.4473T>A (p.Tyr1491Ter)
c.3619T>A
c.6684T>A (p.Tyr2228Ter)
c.6639T>A (p.Tyr2213Ter)
c.447-58097T>A
c.4013T>A
n.545T>A
c.6711T>A (p.Tyr2237Ter)
n.1759T>A
n.273T>A
n.4196T>A
c.6669T>A (p.Tyr2223Ter)
c.6642T>A (p.Tyr2214Ter)
c.6594T>A (p.Tyr2198Ter)
c.6645T>A (p.Tyr2215Ter)
c.6714T>A (p.Tyr2238Ter)
c.6681T>A (p.Tyr2227Ter)
c.6678T>A (p.Tyr2226Ter)
c.6603T>A (p.Tyr2201Ter)
3g.4788042T>CCA2232657ITPR1c.6722T>C (n.6722T>C)
c.6687T>C (p.Tyr2229=)
c.6666T>C (p.Tyr2222=)
c.6567T>C (p.Tyr2189=)
c.6522T>C (p.Tyr2174=)
n.603T>C
c.997-18061T>C (n.997-18061T>C)
c.2610T>C
n.4215T>C
c.3046T>C
c.4473T>C (p.Tyr1491=)
c.3619T>C
c.6684T>C (p.Tyr2228=)
c.6639T>C (p.Tyr2213=)
c.447-58097T>C
c.4013T>C
n.545T>C
c.6711T>C (p.Tyr2237=)
n.1759T>C
n.273T>C
n.4196T>C
c.6669T>C (p.Tyr2223=)
c.6642T>C (p.Tyr2214=)
c.6594T>C (p.Tyr2198=)
c.6645T>C (p.Tyr2215=)
c.6714T>C (p.Tyr2238=)
c.6681T>C (p.Tyr2227=)
c.6678T>C (p.Tyr2226=)
c.6603T>C (p.Tyr2201=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4788042T>GCA351640634ITPR1c.6722T>G (n.6722T>G)
c.6687T>G (p.Tyr2229Ter)
c.6666T>G (p.Tyr2222Ter)
c.6567T>G (p.Tyr2189Ter)
c.6522T>G (p.Tyr2174Ter)
n.603T>G
c.997-18061T>G (n.997-18061T>G)
c.2610T>G
n.4215T>G
c.3046T>G
c.4473T>G (p.Tyr1491Ter)
c.3619T>G
c.6684T>G (p.Tyr2228Ter)
c.6639T>G (p.Tyr2213Ter)
c.447-58097T>G
c.4013T>G
n.545T>G
c.6711T>G (p.Tyr2237Ter)
n.1759T>G
n.273T>G
n.4196T>G
c.6669T>G (p.Tyr2223Ter)
c.6642T>G (p.Tyr2214Ter)
c.6594T>G (p.Tyr2198Ter)
c.6645T>G (p.Tyr2215Ter)
c.6714T>G (p.Tyr2238Ter)
c.6681T>G (p.Tyr2227Ter)
c.6678T>G (p.Tyr2226Ter)
c.6603T>G (p.Tyr2201Ter)
3g.4788042T=CA1342337438ITPR1c.6722T= (n.6722T=)
c.6687T= (p.Tyr2229=)
c.6666T= (p.Tyr2222=)
c.6567T= (p.Tyr2189=)
c.6522T= (p.Tyr2174=)
n.603T=
c.997-18061T= (n.997-18061T=)
c.2610T=
n.4215T=
c.3046T=
c.4473T= (p.Tyr1491=)
c.3619T=
c.6684T= (p.Tyr2228=)
c.6639T= (p.Tyr2213=)
c.447-58097T=
c.4013T=
n.545T=
c.6711T= (p.Tyr2237=)
n.1759T=
n.273T=
n.4196T=
c.6669T= (p.Tyr2223=)
c.6642T= (p.Tyr2214=)
c.6594T= (p.Tyr2198=)
c.6645T= (p.Tyr2215=)
c.6714T= (p.Tyr2238=)
c.6681T= (p.Tyr2227=)
c.6678T= (p.Tyr2226=)
c.6603T= (p.Tyr2201=)
3g.4788043A=CA1342337439ITPR1c.6723A= (n.6723A=)
c.6688A= (p.Thr2230=)
c.6667A= (p.Thr2223=)
c.6568A= (p.Thr2190=)
c.6523A= (p.Thr2175=)
n.604A=
c.997-18060A= (n.997-18060A=)
c.2611A=
n.4216A=
c.3047A=
c.4474A= (p.Thr1492=)
c.3620A=
c.6685A= (p.Thr2229=)
c.6640A= (p.Thr2214=)
c.447-58096A=
c.4014A=
n.546A=
c.6712A= (p.Thr2238=)
n.1760A=
n.274A=
n.4197A=
c.6670A= (p.Thr2224=)
c.6643A= (p.Thr2215=)
c.6595A= (p.Thr2199=)
c.6646A= (p.Thr2216=)
c.6715A= (p.Thr2239=)
c.6682A= (p.Thr2228=)
c.6679A= (p.Thr2227=)
c.6604A= (p.Thr2202=)
3g.4788043A>CCA351640636ITPR1c.6723A>C (n.6723A>C)
c.6688A>C (p.Thr2230Pro)
c.6667A>C (p.Thr2223Pro)
c.6568A>C (p.Thr2190Pro)
c.6523A>C (p.Thr2175Pro)
n.604A>C
c.997-18060A>C (n.997-18060A>C)
c.2611A>C
n.4216A>C
c.3047A>C
c.4474A>C (p.Thr1492Pro)
c.3620A>C
c.6685A>C (p.Thr2229Pro)
c.6640A>C (p.Thr2214Pro)
c.447-58096A>C
c.4014A>C
n.546A>C
c.6712A>C (p.Thr2238Pro)
n.1760A>C
n.274A>C
n.4197A>C
c.6670A>C (p.Thr2224Pro)
c.6643A>C (p.Thr2215Pro)
c.6595A>C (p.Thr2199Pro)
c.6646A>C (p.Thr2216Pro)
c.6715A>C (p.Thr2239Pro)
c.6682A>C (p.Thr2228Pro)
c.6679A>C (p.Thr2227Pro)
c.6604A>C (p.Thr2202Pro)
3g.4788043A>GCA351640637ITPR1c.6723A>G (n.6723A>G)
c.6688A>G (p.Thr2230Ala)
c.6667A>G (p.Thr2223Ala)
c.6568A>G (p.Thr2190Ala)
c.6523A>G (p.Thr2175Ala)
n.604A>G
c.997-18060A>G (n.997-18060A>G)
c.2611A>G
n.4216A>G
c.3047A>G
c.4474A>G (p.Thr1492Ala)
c.3620A>G
c.6685A>G (p.Thr2229Ala)
c.6640A>G (p.Thr2214Ala)
c.447-58096A>G
c.4014A>G
n.546A>G
c.6712A>G (p.Thr2238Ala)
n.1760A>G
n.274A>G
n.4197A>G
c.6670A>G (p.Thr2224Ala)
c.6643A>G (p.Thr2215Ala)
c.6595A>G (p.Thr2199Ala)
c.6646A>G (p.Thr2216Ala)
c.6715A>G (p.Thr2239Ala)
c.6682A>G (p.Thr2228Ala)
c.6679A>G (p.Thr2227Ala)
c.6604A>G (p.Thr2202Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.4788043A>TCA351640635ITPR1c.6723A>T (n.6723A>T)
c.6688A>T (p.Thr2230Ser)
c.6667A>T (p.Thr2223Ser)
c.6568A>T (p.Thr2190Ser)
c.6523A>T (p.Thr2175Ser)
n.604A>T
c.997-18060A>T (n.997-18060A>T)
c.2611A>T
n.4216A>T
c.3047A>T
c.4474A>T (p.Thr1492Ser)
c.3620A>T
c.6685A>T (p.Thr2229Ser)
c.6640A>T (p.Thr2214Ser)
c.447-58096A>T
c.4014A>T
n.546A>T
c.6712A>T (p.Thr2238Ser)
n.1760A>T
n.274A>T
n.4197A>T
c.6670A>T (p.Thr2224Ser)
c.6643A>T (p.Thr2215Ser)
c.6595A>T (p.Thr2199Ser)
c.6646A>T (p.Thr2216Ser)
c.6715A>T (p.Thr2239Ser)
c.6682A>T (p.Thr2228Ser)
c.6679A>T (p.Thr2227Ser)
c.6604A>T (p.Thr2202Ser)
3g.4788044C>ACA351640638ITPR1c.6724C>A (n.6724C>A)
c.6689C>A (p.Thr2230Asn)
c.6668C>A (p.Thr2223Asn)
c.6569C>A (p.Thr2190Asn)
c.6524C>A (p.Thr2175Asn)
n.605C>A
c.997-18059C>A (n.997-18059C>A)
c.2612C>A
n.4217C>A
c.3048C>A
c.4475C>A (p.Thr1492Asn)
c.3621C>A
c.6686C>A (p.Thr2229Asn)
c.6641C>A (p.Thr2214Asn)
c.447-58095C>A
c.4015C>A
n.547C>A
c.6713C>A (p.Thr2238Asn)
n.1761C>A
n.275C>A
n.4198C>A
c.6671C>A (p.Thr2224Asn)
c.6644C>A (p.Thr2215Asn)
c.6596C>A (p.Thr2199Asn)
c.6647C>A (p.Thr2216Asn)
c.6716C>A (p.Thr2239Asn)
c.6683C>A (p.Thr2228Asn)
c.6680C>A (p.Thr2227Asn)
c.6605C>A (p.Thr2202Asn)
3g.4788044C=CA1342337440ITPR1c.6724C= (n.6724C=)
c.6689C= (p.Thr2230=)
c.6668C= (p.Thr2223=)
c.6569C= (p.Thr2190=)
c.6524C= (p.Thr2175=)
n.605C=
c.997-18059C= (n.997-18059C=)
c.2612C=
n.4217C=
c.3048C=
c.4475C= (p.Thr1492=)
c.3621C=
c.6686C= (p.Thr2229=)
c.6641C= (p.Thr2214=)
c.447-58095C=
c.4015C=
n.547C=
c.6713C= (p.Thr2238=)
n.1761C=
n.275C=
n.4198C=
c.6671C= (p.Thr2224=)
c.6644C= (p.Thr2215=)
c.6596C= (p.Thr2199=)
c.6647C= (p.Thr2216=)
c.6716C= (p.Thr2239=)
c.6683C= (p.Thr2228=)
c.6680C= (p.Thr2227=)
c.6605C= (p.Thr2202=)
3g.4788044C>GCA351640639ITPR1c.6724C>G (n.6724C>G)
c.6689C>G (p.Thr2230Ser)
c.6668C>G (p.Thr2223Ser)
c.6569C>G (p.Thr2190Ser)
c.6524C>G (p.Thr2175Ser)
n.605C>G
c.997-18059C>G (n.997-18059C>G)
c.2612C>G
n.4217C>G
c.3048C>G
c.4475C>G (p.Thr1492Ser)
c.3621C>G
c.6686C>G (p.Thr2229Ser)
c.6641C>G (p.Thr2214Ser)
c.447-58095C>G
c.4015C>G
n.547C>G
c.6713C>G (p.Thr2238Ser)
n.1761C>G
n.275C>G
n.4198C>G
c.6671C>G (p.Thr2224Ser)
c.6644C>G (p.Thr2215Ser)
c.6596C>G (p.Thr2199Ser)
c.6647C>G (p.Thr2216Ser)
c.6716C>G (p.Thr2239Ser)
c.6683C>G (p.Thr2228Ser)
c.6680C>G (p.Thr2227Ser)
c.6605C>G (p.Thr2202Ser)
3g.4788044C>TCA351640640ITPR1c.6724C>T (n.6724C>T)
c.6689C>T (p.Thr2230Ile)
c.6668C>T (p.Thr2223Ile)
c.6569C>T (p.Thr2190Ile)
c.6524C>T (p.Thr2175Ile)
n.605C>T
c.997-18059C>T (n.997-18059C>T)
c.2612C>T
n.4217C>T
c.3048C>T
c.4475C>T (p.Thr1492Ile)
c.3621C>T
c.6686C>T (p.Thr2229Ile)
c.6641C>T (p.Thr2214Ile)
c.447-58095C>T
c.4015C>T
n.547C>T
c.6713C>T (p.Thr2238Ile)
n.1761C>T
n.275C>T
n.4198C>T
c.6671C>T (p.Thr2224Ile)
c.6644C>T (p.Thr2215Ile)
c.6596C>T (p.Thr2199Ile)
c.6647C>T (p.Thr2216Ile)
c.6716C>T (p.Thr2239Ile)
c.6683C>T (p.Thr2228Ile)
c.6680C>T (p.Thr2227Ile)
c.6605C>T (p.Thr2202Ile)
 dbSNP gnomAD v2
3g.4788045T>ACA432323010ITPR1c.6725T>A (n.6725T>A)
c.6690T>A (p.Thr2230=)
c.6669T>A (p.Thr2223=)
c.6570T>A (p.Thr2190=)
c.6525T>A (p.Thr2175=)
n.606T>A
c.997-18058T>A (n.997-18058T>A)
c.2613T>A
n.4218T>A
c.3049T>A
c.4476T>A (p.Thr1492=)
c.3622T>A
c.6687T>A (p.Thr2229=)
c.6642T>A (p.Thr2214=)
c.447-58094T>A
c.4016T>A
n.548T>A
c.6714T>A (p.Thr2238=)
n.1762T>A
n.276T>A
n.4199T>A
c.6672T>A (p.Thr2224=)
c.6645T>A (p.Thr2215=)
c.6597T>A (p.Thr2199=)
c.6648T>A (p.Thr2216=)
c.6717T>A (p.Thr2239=)
c.6684T>A (p.Thr2228=)
c.6681T>A (p.Thr2227=)
c.6606T>A (p.Thr2202=)
 gnomAD v4
3g.4788045T>CCA432323012ITPR1c.6725T>C (n.6725T>C)
c.6690T>C (p.Thr2230=)
c.6669T>C (p.Thr2223=)
c.6570T>C (p.Thr2190=)
c.6525T>C (p.Thr2175=)
n.606T>C
c.997-18058T>C (n.997-18058T>C)
c.2613T>C
n.4218T>C
c.3049T>C
c.4476T>C (p.Thr1492=)
c.3622T>C
c.6687T>C (p.Thr2229=)
c.6642T>C (p.Thr2214=)
c.447-58094T>C
c.4016T>C
n.548T>C
c.6714T>C (p.Thr2238=)
n.1762T>C
n.276T>C
n.4199T>C
c.6672T>C (p.Thr2224=)
c.6645T>C (p.Thr2215=)
c.6597T>C (p.Thr2199=)
c.6648T>C (p.Thr2216=)
c.6717T>C (p.Thr2239=)
c.6684T>C (p.Thr2228=)
c.6681T>C (p.Thr2227=)
c.6606T>C (p.Thr2202=)
3g.4788045T>GCA432323016ITPR1c.6725T>G (n.6725T>G)
c.6690T>G (p.Thr2230=)
c.6669T>G (p.Thr2223=)
c.6570T>G (p.Thr2190=)
c.6525T>G (p.Thr2175=)
n.606T>G
c.997-18058T>G (n.997-18058T>G)
c.2613T>G
n.4218T>G
c.3049T>G
c.4476T>G (p.Thr1492=)
c.3622T>G
c.6687T>G (p.Thr2229=)
c.6642T>G (p.Thr2214=)
c.447-58094T>G
c.4016T>G
n.548T>G
c.6714T>G (p.Thr2238=)
n.1762T>G
n.276T>G
n.4199T>G
c.6672T>G (p.Thr2224=)
c.6645T>G (p.Thr2215=)
c.6597T>G (p.Thr2199=)
c.6648T>G (p.Thr2216=)
c.6717T>G (p.Thr2239=)
c.6684T>G (p.Thr2228=)
c.6681T>G (p.Thr2227=)
c.6606T>G (p.Thr2202=)
3g.4788046A=CA1342337441ITPR1c.6726A= (n.6726A=)
c.6691A= (p.Thr2231=)
c.6670A= (p.Thr2224=)
c.6571A= (p.Thr2191=)
c.6526A= (p.Thr2176=)
n.607A=
c.997-18057A= (n.997-18057A=)
c.2614A=
n.4219A=
c.3050A=
c.4477A= (p.Thr1493=)
c.3623A=
c.6688A= (p.Thr2230=)
c.6643A= (p.Thr2215=)
c.447-58093A=
c.4017A=
n.549A=
c.6715A= (p.Thr2239=)
n.1763A=
n.277A=
n.4200A=
c.6673A= (p.Thr2225=)
c.6646A= (p.Thr2216=)
c.6598A= (p.Thr2200=)
c.6649A= (p.Thr2217=)
c.6718A= (p.Thr2240=)
c.6685A= (p.Thr2229=)
c.6682A= (p.Thr2228=)
c.6607A= (p.Thr2203=)
3g.4788046A>CCA351640641ITPR1c.6726A>C (n.6726A>C)
c.6691A>C (p.Thr2231Pro)
c.6670A>C (p.Thr2224Pro)
c.6571A>C (p.Thr2191Pro)
c.6526A>C (p.Thr2176Pro)
n.607A>C
c.997-18057A>C (n.997-18057A>C)
c.2614A>C
n.4219A>C
c.3050A>C
c.4477A>C (p.Thr1493Pro)
c.3623A>C
c.6688A>C (p.Thr2230Pro)
c.6643A>C (p.Thr2215Pro)
c.447-58093A>C
c.4017A>C
n.549A>C
c.6715A>C (p.Thr2239Pro)
n.1763A>C
n.277A>C
n.4200A>C
c.6673A>C (p.Thr2225Pro)
c.6646A>C (p.Thr2216Pro)
c.6598A>C (p.Thr2200Pro)
c.6649A>C (p.Thr2217Pro)
c.6718A>C (p.Thr2240Pro)
c.6685A>C (p.Thr2229Pro)
c.6682A>C (p.Thr2228Pro)
c.6607A>C (p.Thr2203Pro)
3g.4788046A>GCA68827990ITPR1c.6726A>G (n.6726A>G)
c.6691A>G (p.Thr2231Ala)
c.6670A>G (p.Thr2224Ala)
c.6571A>G (p.Thr2191Ala)
c.6526A>G (p.Thr2176Ala)
n.607A>G
c.997-18057A>G (n.997-18057A>G)
c.2614A>G
n.4219A>G
c.3050A>G
c.4477A>G (p.Thr1493Ala)
c.3623A>G
c.6688A>G (p.Thr2230Ala)
c.6643A>G (p.Thr2215Ala)
c.447-58093A>G
c.4017A>G
n.549A>G
c.6715A>G (p.Thr2239Ala)
n.1763A>G
n.277A>G
n.4200A>G
c.6673A>G (p.Thr2225Ala)
c.6646A>G (p.Thr2216Ala)
c.6598A>G (p.Thr2200Ala)
c.6649A>G (p.Thr2217Ala)
c.6718A>G (p.Thr2240Ala)
c.6685A>G (p.Thr2229Ala)
c.6682A>G (p.Thr2228Ala)
c.6607A>G (p.Thr2203Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.4788046A>TCA351640642ITPR1c.6726A>T (n.6726A>T)
c.6691A>T (p.Thr2231Ser)
c.6670A>T (p.Thr2224Ser)
c.6571A>T (p.Thr2191Ser)
c.6526A>T (p.Thr2176Ser)
n.607A>T
c.997-18057A>T (n.997-18057A>T)
c.2614A>T
n.4219A>T
c.3050A>T
c.4477A>T (p.Thr1493Ser)
c.3623A>T
c.6688A>T (p.Thr2230Ser)
c.6643A>T (p.Thr2215Ser)
c.447-58093A>T
c.4017A>T
n.549A>T
c.6715A>T (p.Thr2239Ser)
n.1763A>T
n.277A>T
n.4200A>T
c.6673A>T (p.Thr2225Ser)
c.6646A>T (p.Thr2216Ser)
c.6598A>T (p.Thr2200Ser)
c.6649A>T (p.Thr2217Ser)
c.6718A>T (p.Thr2240Ser)
c.6685A>T (p.Thr2229Ser)
c.6682A>T (p.Thr2228Ser)
c.6607A>T (p.Thr2203Ser)
 gnomAD v4
3g.4788047C>ACA351640643ITPR1c.6727C>A (n.6727C>A)
c.6692C>A (p.Thr2231Lys)
c.6671C>A (p.Thr2224Lys)
c.6572C>A (p.Thr2191Lys)
c.6527C>A (p.Thr2176Lys)
n.608C>A
c.997-18056C>A (n.997-18056C>A)
c.2615C>A
n.4220C>A
c.3051C>A
c.4478C>A (p.Thr1493Lys)
c.3624C>A
c.6689C>A (p.Thr2230Lys)
c.6644C>A (p.Thr2215Lys)
c.447-58092C>A
c.4018C>A
n.550C>A
c.6716C>A (p.Thr2239Lys)
n.1764C>A
n.278C>A
n.4201C>A
c.6674C>A (p.Thr2225Lys)
c.6647C>A (p.Thr2216Lys)
c.6599C>A (p.Thr2200Lys)
c.6650C>A (p.Thr2217Lys)
c.6719C>A (p.Thr2240Lys)
c.6686C>A (p.Thr2229Lys)
c.6683C>A (p.Thr2228Lys)
c.6608C>A (p.Thr2203Lys)
3g.4788047C=CA1342337442ITPR1c.6727C= (n.6727C=)
c.6692C= (p.Thr2231=)
c.6671C= (p.Thr2224=)
c.6572C= (p.Thr2191=)
c.6527C= (p.Thr2176=)
n.608C=
c.997-18056C= (n.997-18056C=)
c.2615C=
n.4220C=
c.3051C=
c.4478C= (p.Thr1493=)
c.3624C=
c.6689C= (p.Thr2230=)
c.6644C= (p.Thr2215=)
c.447-58092C=
c.4018C=
n.550C=
c.6716C= (p.Thr2239=)
n.1764C=
n.278C=
n.4201C=
c.6674C= (p.Thr2225=)
c.6647C= (p.Thr2216=)
c.6599C= (p.Thr2200=)
c.6650C= (p.Thr2217=)
c.6719C= (p.Thr2240=)
c.6686C= (p.Thr2229=)
c.6683C= (p.Thr2228=)
c.6608C= (p.Thr2203=)
3g.4788047C>GCA351640644ITPR1c.6727C>G (n.6727C>G)
c.6692C>G (p.Thr2231Arg)
c.6671C>G (p.Thr2224Arg)
c.6572C>G (p.Thr2191Arg)
c.6527C>G (p.Thr2176Arg)
n.608C>G
c.997-18056C>G (n.997-18056C>G)
c.2615C>G
n.4220C>G
c.3051C>G
c.4478C>G (p.Thr1493Arg)
c.3624C>G
c.6689C>G (p.Thr2230Arg)
c.6644C>G (p.Thr2215Arg)
c.447-58092C>G
c.4018C>G
n.550C>G
c.6716C>G (p.Thr2239Arg)
n.1764C>G
n.278C>G
n.4201C>G
c.6674C>G (p.Thr2225Arg)
c.6647C>G (p.Thr2216Arg)
c.6599C>G (p.Thr2200Arg)
c.6650C>G (p.Thr2217Arg)
c.6719C>G (p.Thr2240Arg)
c.6686C>G (p.Thr2229Arg)
c.6683C>G (p.Thr2228Arg)
c.6608C>G (p.Thr2203Arg)
3g.4788047C>TCA351640645ITPR1c.6727C>T (n.6727C>T)
c.6692C>T (p.Thr2231Ile)
c.6671C>T (p.Thr2224Ile)
c.6572C>T (p.Thr2191Ile)
c.6527C>T (p.Thr2176Ile)
n.608C>T
c.997-18056C>T (n.997-18056C>T)
c.2615C>T
n.4220C>T
c.3051C>T
c.4478C>T (p.Thr1493Ile)
c.3624C>T
c.6689C>T (p.Thr2230Ile)
c.6644C>T (p.Thr2215Ile)
c.447-58092C>T
c.4018C>T
n.550C>T
c.6716C>T (p.Thr2239Ile)
n.1764C>T
n.278C>T
n.4201C>T
c.6674C>T (p.Thr2225Ile)
c.6647C>T (p.Thr2216Ile)
c.6599C>T (p.Thr2200Ile)
c.6650C>T (p.Thr2217Ile)
c.6719C>T (p.Thr2240Ile)
c.6686C>T (p.Thr2229Ile)
c.6683C>T (p.Thr2228Ile)
c.6608C>T (p.Thr2203Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4788048A=CA1342337443ITPR1c.6728A= (n.6728A=)
c.6693A= (p.Thr2231=)
c.6672A= (p.Thr2224=)
c.6573A= (p.Thr2191=)
c.6528A= (p.Thr2176=)
n.609A=
c.997-18055A= (n.997-18055A=)
c.2616A=
n.4221A=
c.3052A=
c.4479A= (p.Thr1493=)
c.3625A=
c.6690A= (p.Thr2230=)
c.6645A= (p.Thr2215=)
c.447-58091A=
c.4019A=
n.551A=
c.6717A= (p.Thr2239=)
n.1765A=
n.279A=
n.4202A=
c.6675A= (p.Thr2225=)
c.6648A= (p.Thr2216=)
c.6600A= (p.Thr2200=)
c.6651A= (p.Thr2217=)
c.6720A= (p.Thr2240=)
c.6687A= (p.Thr2229=)
c.6684A= (p.Thr2228=)
c.6609A= (p.Thr2203=)
3g.4788048A>CCA432323044ITPR1c.6728A>C (n.6728A>C)
c.6693A>C (p.Thr2231=)
c.6672A>C (p.Thr2224=)
c.6573A>C (p.Thr2191=)
c.6528A>C (p.Thr2176=)
n.609A>C
c.997-18055A>C (n.997-18055A>C)
c.2616A>C
n.4221A>C
c.3052A>C
c.4479A>C (p.Thr1493=)
c.3625A>C
c.6690A>C (p.Thr2230=)
c.6645A>C (p.Thr2215=)
c.447-58091A>C
c.4019A>C
n.551A>C
c.6717A>C (p.Thr2239=)
n.1765A>C
n.279A>C
n.4202A>C
c.6675A>C (p.Thr2225=)
c.6648A>C (p.Thr2216=)
c.6600A>C (p.Thr2200=)
c.6651A>C (p.Thr2217=)
c.6720A>C (p.Thr2240=)
c.6687A>C (p.Thr2229=)
c.6684A>C (p.Thr2228=)
c.6609A>C (p.Thr2203=)
3g.4788048A>GCA153219ITPR1c.6728A>G (n.6728A>G)
c.6693A>G (p.Thr2231=)
c.6672A>G (p.Thr2224=)
c.6573A>G (p.Thr2191=)
c.6528A>G (p.Thr2176=)
n.609A>G
c.997-18055A>G (n.997-18055A>G)
c.2616A>G
n.4221A>G
c.3052A>G
c.4479A>G (p.Thr1493=)
c.3625A>G
c.6690A>G (p.Thr2230=)
c.6645A>G (p.Thr2215=)
c.447-58091A>G
c.4019A>G
n.551A>G
c.6717A>G (p.Thr2239=)
n.1765A>G
n.279A>G
n.4202A>G
c.6675A>G (p.Thr2225=)
c.6648A>G (p.Thr2216=)
c.6600A>G (p.Thr2200=)
c.6651A>G (p.Thr2217=)
c.6720A>G (p.Thr2240=)
c.6687A>G (p.Thr2229=)
c.6684A>G (p.Thr2228=)
c.6609A>G (p.Thr2203=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788048A>TCA432323050ITPR1c.6728A>T (n.6728A>T)
c.6693A>T (p.Thr2231=)
c.6672A>T (p.Thr2224=)
c.6573A>T (p.Thr2191=)
c.6528A>T (p.Thr2176=)
n.609A>T
c.997-18055A>T (n.997-18055A>T)
c.2616A>T
n.4221A>T
c.3052A>T
c.4479A>T (p.Thr1493=)
c.3625A>T
c.6690A>T (p.Thr2230=)
c.6645A>T (p.Thr2215=)
c.447-58091A>T
c.4019A>T
n.551A>T
c.6717A>T (p.Thr2239=)
n.1765A>T
n.279A>T
n.4202A>T
c.6675A>T (p.Thr2225=)
c.6648A>T (p.Thr2216=)
c.6600A>T (p.Thr2200=)
c.6651A>T (p.Thr2217=)
c.6720A>T (p.Thr2240=)
c.6687A>T (p.Thr2229=)
c.6684A>T (p.Thr2228=)
c.6609A>T (p.Thr2203=)
3g.4788048_4788049insAGCA645535844ITPR1c.6728_6729insAG (n.6728_6729insAG)
c.6693_6694insAG (p.Glu2232ArgfsTer24)
c.6672_6673insAG (p.Glu2225ArgfsTer24)
c.6573_6574insAG (p.Glu2192ArgfsTer24)
c.6528_6529insAG (p.Glu2177ArgfsTer24)
n.609_610insAG
c.997-18055_997-18054insAG (n.997-18055_997-18054insAG)
c.2616_2617insAG
n.4221_4222insAG
c.3052_3053insAG
c.4479_4480insAG (p.Glu1494ArgfsTer24)
c.3625_3626insAG
c.6690_6691insAG (p.Glu2231ArgfsTer24)
c.6645_6646insAG (p.Glu2216ArgfsTer24)
c.447-58091_447-58090insAG
c.4019_4020insAG
n.551_552insAG
c.6717_6718insAG (p.Glu2240ArgfsTer24)
n.1765_1766insAG
n.279_280insAG
n.4202_4203insAG
c.6675_6676insAG (p.Glu2226ArgfsTer24)
c.6648_6649insAG (p.Glu2217ArgfsTer24)
c.6600_6601insAG (p.Glu2201ArgfsTer24)
c.6651_6652insAG (p.Glu2218ArgfsTer24)
c.6720_6721insAG (p.Glu2241ArgfsTer24)
c.6687_6688insAG (p.Glu2230ArgfsTer24)
c.6684_6685insAG (p.Glu2229ArgfsTer24)
c.6609_6610insAG (p.Glu2204ArgfsTer24)
 COSMIC COSMIC COSMIC
3g.4788049G>ACA351640646ITPR1c.6729G>A (n.6729G>A)
c.6694G>A (p.Glu2232Lys)
c.6673G>A (p.Glu2225Lys)
c.6574G>A (p.Glu2192Lys)
c.6529G>A (p.Glu2177Lys)
n.610G>A
c.997-18054G>A (n.997-18054G>A)
c.2617G>A
n.4222G>A
c.3053G>A
c.4480G>A (p.Glu1494Lys)
c.3626G>A
c.6691G>A (p.Glu2231Lys)
c.6646G>A (p.Glu2216Lys)
c.447-58090G>A
c.4020G>A
n.552G>A
c.6718G>A (p.Glu2240Lys)
n.1766G>A
n.280G>A
n.4203G>A
c.6676G>A (p.Glu2226Lys)
c.6649G>A (p.Glu2217Lys)
c.6601G>A (p.Glu2201Lys)
c.6652G>A (p.Glu2218Lys)
c.6721G>A (p.Glu2241Lys)
c.6688G>A (p.Glu2230Lys)
c.6685G>A (p.Glu2229Lys)
c.6610G>A (p.Glu2204Lys)
3g.4788049G>CCA351640647ITPR1c.6729G>C (n.6729G>C)
c.6694G>C (p.Glu2232Gln)
c.6673G>C (p.Glu2225Gln)
c.6574G>C (p.Glu2192Gln)
c.6529G>C (p.Glu2177Gln)
n.610G>C
c.997-18054G>C (n.997-18054G>C)
c.2617G>C
n.4222G>C
c.3053G>C
c.4480G>C (p.Glu1494Gln)
c.3626G>C
c.6691G>C (p.Glu2231Gln)
c.6646G>C (p.Glu2216Gln)
c.447-58090G>C
c.4020G>C
n.552G>C
c.6718G>C (p.Glu2240Gln)
n.1766G>C
n.280G>C
n.4203G>C
c.6676G>C (p.Glu2226Gln)
c.6649G>C (p.Glu2217Gln)
c.6601G>C (p.Glu2201Gln)
c.6652G>C (p.Glu2218Gln)
c.6721G>C (p.Glu2241Gln)
c.6688G>C (p.Glu2230Gln)
c.6685G>C (p.Glu2229Gln)
c.6610G>C (p.Glu2204Gln)
 COSMIC COSMIC COSMIC
3g.4788049G>TCA351640648ITPR1c.6729G>T (n.6729G>T)
c.6694G>T (p.Glu2232Ter)
c.6673G>T (p.Glu2225Ter)
c.6574G>T (p.Glu2192Ter)
c.6529G>T (p.Glu2177Ter)
n.610G>T
c.997-18054G>T (n.997-18054G>T)
c.2617G>T
n.4222G>T
c.3053G>T
c.4480G>T (p.Glu1494Ter)
c.3626G>T
c.6691G>T (p.Glu2231Ter)
c.6646G>T (p.Glu2216Ter)
c.447-58090G>T
c.4020G>T
n.552G>T
c.6718G>T (p.Glu2240Ter)
n.1766G>T
n.280G>T
n.4203G>T
c.6676G>T (p.Glu2226Ter)
c.6649G>T (p.Glu2217Ter)
c.6601G>T (p.Glu2201Ter)
c.6652G>T (p.Glu2218Ter)
c.6721G>T (p.Glu2241Ter)
c.6688G>T (p.Glu2230Ter)
c.6685G>T (p.Glu2229Ter)
c.6610G>T (p.Glu2204Ter)
3g.4788050A>CCA351640651ITPR1c.6730A>C (n.6730A>C)
c.6695A>C (p.Glu2232Ala)
c.6674A>C (p.Glu2225Ala)
c.6575A>C (p.Glu2192Ala)
c.6530A>C (p.Glu2177Ala)
n.611A>C
c.997-18053A>C (n.997-18053A>C)
c.2618A>C
n.4223A>C
c.3054A>C
c.4481A>C (p.Glu1494Ala)
c.3627A>C
c.6692A>C (p.Glu2231Ala)
c.6647A>C (p.Glu2216Ala)
c.447-58089A>C
c.4021A>C
n.553A>C
c.6719A>C (p.Glu2240Ala)
n.1767A>C
n.281A>C
n.4204A>C
c.6677A>C (p.Glu2226Ala)
c.6650A>C (p.Glu2217Ala)
c.6602A>C (p.Glu2201Ala)
c.6653A>C (p.Glu2218Ala)
c.6722A>C (p.Glu2241Ala)
c.6689A>C (p.Glu2230Ala)
c.6686A>C (p.Glu2229Ala)
c.6611A>C (p.Glu2204Ala)
3g.4788050A>GCA351640649ITPR1c.6730A>G (n.6730A>G)
c.6695A>G (p.Glu2232Gly)
c.6674A>G (p.Glu2225Gly)
c.6575A>G (p.Glu2192Gly)
c.6530A>G (p.Glu2177Gly)
n.611A>G
c.997-18053A>G (n.997-18053A>G)
c.2618A>G
n.4223A>G
c.3054A>G
c.4481A>G (p.Glu1494Gly)
c.3627A>G
c.6692A>G (p.Glu2231Gly)
c.6647A>G (p.Glu2216Gly)
c.447-58089A>G
c.4021A>G
n.553A>G
c.6719A>G (p.Glu2240Gly)
n.1767A>G
n.281A>G
n.4204A>G
c.6677A>G (p.Glu2226Gly)
c.6650A>G (p.Glu2217Gly)
c.6602A>G (p.Glu2201Gly)
c.6653A>G (p.Glu2218Gly)
c.6722A>G (p.Glu2241Gly)
c.6689A>G (p.Glu2230Gly)
c.6686A>G (p.Glu2229Gly)
c.6611A>G (p.Glu2204Gly)
3g.4788050A>TCA351640650ITPR1c.6730A>T (n.6730A>T)
c.6695A>T (p.Glu2232Val)
c.6674A>T (p.Glu2225Val)
c.6575A>T (p.Glu2192Val)
c.6530A>T (p.Glu2177Val)
n.611A>T
c.997-18053A>T (n.997-18053A>T)
c.2618A>T
n.4223A>T
c.3054A>T
c.4481A>T (p.Glu1494Val)
c.3627A>T
c.6692A>T (p.Glu2231Val)
c.6647A>T (p.Glu2216Val)
c.447-58089A>T
c.4021A>T
n.553A>T
c.6719A>T (p.Glu2240Val)
n.1767A>T
n.281A>T
n.4204A>T
c.6677A>T (p.Glu2226Val)
c.6650A>T (p.Glu2217Val)
c.6602A>T (p.Glu2201Val)
c.6653A>T (p.Glu2218Val)
c.6722A>T (p.Glu2241Val)
c.6689A>T (p.Glu2230Val)
c.6686A>T (p.Glu2229Val)
c.6611A>T (p.Glu2204Val)
 gnomAD v4
3g.4788051G>ACA432323070ITPR1c.6731G>A (n.6731G>A)
c.6696G>A (p.Glu2232=)
c.6675G>A (p.Glu2225=)
c.6576G>A (p.Glu2192=)
c.6531G>A (p.Glu2177=)
n.612G>A
c.997-18052G>A (n.997-18052G>A)
c.2619G>A
n.4224G>A
c.3055G>A
c.4482G>A (p.Glu1494=)
c.3628G>A
c.6693G>A (p.Glu2231=)
c.6648G>A (p.Glu2216=)
c.447-58088G>A
c.4022G>A
n.554G>A
c.6720G>A (p.Glu2240=)
n.1768G>A
n.282G>A
n.4205G>A
c.6678G>A (p.Glu2226=)
c.6651G>A (p.Glu2217=)
c.6603G>A (p.Glu2201=)
c.6654G>A (p.Glu2218=)
c.6723G>A (p.Glu2241=)
c.6690G>A (p.Glu2230=)
c.6687G>A (p.Glu2229=)
c.6612G>A (p.Glu2204=)
3g.4788051G>CCA68827995ITPR1c.6731G>C (n.6731G>C)
c.6696G>C (p.Glu2232Asp)
c.6675G>C (p.Glu2225Asp)
c.6576G>C (p.Glu2192Asp)
c.6531G>C (p.Glu2177Asp)
n.612G>C
c.997-18052G>C (n.997-18052G>C)
c.2619G>C
n.4224G>C
c.3055G>C
c.4482G>C (p.Glu1494Asp)
c.3628G>C
c.6693G>C (p.Glu2231Asp)
c.6648G>C (p.Glu2216Asp)
c.447-58088G>C
c.4022G>C
n.554G>C
c.6720G>C (p.Glu2240Asp)
n.1768G>C
n.282G>C
n.4205G>C
c.6678G>C (p.Glu2226Asp)
c.6651G>C (p.Glu2217Asp)
c.6603G>C (p.Glu2201Asp)
c.6654G>C (p.Glu2218Asp)
c.6723G>C (p.Glu2241Asp)
c.6690G>C (p.Glu2230Asp)
c.6687G>C (p.Glu2229Asp)
c.6612G>C (p.Glu2204Asp)
 ClinVar dbSNP
3g.4788051G=CA1342337444ITPR1c.6731G= (n.6731G=)
c.6696G= (p.Glu2232=)
c.6675G= (p.Glu2225=)
c.6576G= (p.Glu2192=)
c.6531G= (p.Glu2177=)
n.612G=
c.997-18052G= (n.997-18052G=)
c.2619G=
n.4224G=
c.3055G=
c.4482G= (p.Glu1494=)
c.3628G=
c.6693G= (p.Glu2231=)
c.6648G= (p.Glu2216=)
c.447-58088G=
c.4022G=
n.554G=
c.6720G= (p.Glu2240=)
n.1768G=
n.282G=
n.4205G=
c.6678G= (p.Glu2226=)
c.6651G= (p.Glu2217=)
c.6603G= (p.Glu2201=)
c.6654G= (p.Glu2218=)
c.6723G= (p.Glu2241=)
c.6690G= (p.Glu2230=)
c.6687G= (p.Glu2229=)
c.6612G= (p.Glu2204=)
3g.4788051G>TCA351640652ITPR1c.6731G>T (n.6731G>T)
c.6696G>T (p.Glu2232Asp)
c.6675G>T (p.Glu2225Asp)
c.6576G>T (p.Glu2192Asp)
c.6531G>T (p.Glu2177Asp)
n.612G>T
c.997-18052G>T (n.997-18052G>T)
c.2619G>T
n.4224G>T
c.3055G>T
c.4482G>T (p.Glu1494Asp)
c.3628G>T
c.6693G>T (p.Glu2231Asp)
c.6648G>T (p.Glu2216Asp)
c.447-58088G>T
c.4022G>T
n.554G>T
c.6720G>T (p.Glu2240Asp)
n.1768G>T
n.282G>T
n.4205G>T
c.6678G>T (p.Glu2226Asp)
c.6651G>T (p.Glu2217Asp)
c.6603G>T (p.Glu2201Asp)
c.6654G>T (p.Glu2218Asp)
c.6723G>T (p.Glu2241Asp)
c.6690G>T (p.Glu2230Asp)
c.6687G>T (p.Glu2229Asp)
c.6612G>T (p.Glu2204Asp)
3g.4788052A>CCA432323089ITPR1c.6732A>C (n.6732A>C)
c.6697A>C (p.Arg2233=)
c.6676A>C (p.Arg2226=)
c.6577A>C (p.Arg2193=)
c.6532A>C (p.Arg2178=)
n.613A>C
c.997-18051A>C (n.997-18051A>C)
c.2620A>C
n.4225A>C
c.3056A>C
c.4483A>C (p.Arg1495=)
c.3629A>C
c.6694A>C (p.Arg2232=)
c.6649A>C (p.Arg2217=)
c.447-58087A>C
c.4023A>C
n.555A>C
c.6721A>C (p.Arg2241=)
n.1769A>C
n.283A>C
n.4206A>C
c.6679A>C (p.Arg2227=)
c.6652A>C (p.Arg2218=)
c.6604A>C (p.Arg2202=)
c.6655A>C (p.Arg2219=)
c.6724A>C (p.Arg2242=)
c.6691A>C (p.Arg2231=)
c.6688A>C (p.Arg2230=)
c.6613A>C (p.Arg2205=)
3g.4788052A>GCA351640653ITPR1c.6732A>G (n.6732A>G)
c.6697A>G (p.Arg2233Gly)
c.6676A>G (p.Arg2226Gly)
c.6577A>G (p.Arg2193Gly)
c.6532A>G (p.Arg2178Gly)
n.613A>G
c.997-18051A>G (n.997-18051A>G)
c.2620A>G
n.4225A>G
c.3056A>G
c.4483A>G (p.Arg1495Gly)
c.3629A>G
c.6694A>G (p.Arg2232Gly)
c.6649A>G (p.Arg2217Gly)
c.447-58087A>G
c.4023A>G
n.555A>G
c.6721A>G (p.Arg2241Gly)
n.1769A>G
n.283A>G
n.4206A>G
c.6679A>G (p.Arg2227Gly)
c.6652A>G (p.Arg2218Gly)
c.6604A>G (p.Arg2202Gly)
c.6655A>G (p.Arg2219Gly)
c.6724A>G (p.Arg2242Gly)
c.6691A>G (p.Arg2231Gly)
c.6688A>G (p.Arg2230Gly)
c.6613A>G (p.Arg2205Gly)
3g.4788052A>TCA351640654ITPR1c.6732A>T (n.6732A>T)
c.6697A>T (p.Arg2233Ter)
c.6676A>T (p.Arg2226Ter)
c.6577A>T (p.Arg2193Ter)
c.6532A>T (p.Arg2178Ter)
n.613A>T
c.997-18051A>T (n.997-18051A>T)
c.2620A>T
n.4225A>T
c.3056A>T
c.4483A>T (p.Arg1495Ter)
c.3629A>T
c.6694A>T (p.Arg2232Ter)
c.6649A>T (p.Arg2217Ter)
c.447-58087A>T
c.4023A>T
n.555A>T
c.6721A>T (p.Arg2241Ter)
n.1769A>T
n.283A>T
n.4206A>T
c.6679A>T (p.Arg2227Ter)
c.6652A>T (p.Arg2218Ter)
c.6604A>T (p.Arg2202Ter)
c.6655A>T (p.Arg2219Ter)
c.6724A>T (p.Arg2242Ter)
c.6691A>T (p.Arg2231Ter)
c.6688A>T (p.Arg2230Ter)
c.6613A>T (p.Arg2205Ter)
3g.4788053G>ACA351640655ITPR1c.6733G>A (n.6733G>A)
c.6698G>A (p.Arg2233Lys)
c.6677G>A (p.Arg2226Lys)
c.6578G>A (p.Arg2193Lys)
c.6533G>A (p.Arg2178Lys)
n.614G>A
c.997-18050G>A (n.997-18050G>A)
c.2621G>A
n.4226G>A
c.3057G>A
c.4484G>A (p.Arg1495Lys)
c.3630G>A
c.6695G>A (p.Arg2232Lys)
c.6650G>A (p.Arg2217Lys)
c.447-58086G>A
c.4024G>A
n.556G>A
c.6722G>A (p.Arg2241Lys)
n.1770G>A
n.284G>A
n.4207G>A
c.6680G>A (p.Arg2227Lys)
c.6653G>A (p.Arg2218Lys)
c.6605G>A (p.Arg2202Lys)
c.6656G>A (p.Arg2219Lys)
c.6725G>A (p.Arg2242Lys)
c.6692G>A (p.Arg2231Lys)
c.6689G>A (p.Arg2230Lys)
c.6614G>A (p.Arg2205Lys)
3g.4788053G>CCA351640656ITPR1c.6733G>C (n.6733G>C)
c.6698G>C (p.Arg2233Thr)
c.6677G>C (p.Arg2226Thr)
c.6578G>C (p.Arg2193Thr)
c.6533G>C (p.Arg2178Thr)
n.614G>C
c.997-18050G>C (n.997-18050G>C)
c.2621G>C
n.4226G>C
c.3057G>C
c.4484G>C (p.Arg1495Thr)
c.3630G>C
c.6695G>C (p.Arg2232Thr)
c.6650G>C (p.Arg2217Thr)
c.447-58086G>C
c.4024G>C
n.556G>C
c.6722G>C (p.Arg2241Thr)
n.1770G>C
n.284G>C
n.4207G>C
c.6680G>C (p.Arg2227Thr)
c.6653G>C (p.Arg2218Thr)
c.6605G>C (p.Arg2202Thr)
c.6656G>C (p.Arg2219Thr)
c.6725G>C (p.Arg2242Thr)
c.6692G>C (p.Arg2231Thr)
c.6689G>C (p.Arg2230Thr)
c.6614G>C (p.Arg2205Thr)
3g.4788053G>TCA351640657ITPR1c.6733G>T (n.6733G>T)
c.6698G>T (p.Arg2233Ile)
c.6677G>T (p.Arg2226Ile)
c.6578G>T (p.Arg2193Ile)
c.6533G>T (p.Arg2178Ile)
n.614G>T
c.997-18050G>T (n.997-18050G>T)
c.2621G>T
n.4226G>T
c.3057G>T
c.4484G>T (p.Arg1495Ile)
c.3630G>T
c.6695G>T (p.Arg2232Ile)
c.6650G>T (p.Arg2217Ile)
c.447-58086G>T
c.4024G>T
n.556G>T
c.6722G>T (p.Arg2241Ile)
n.1770G>T
n.284G>T
n.4207G>T
c.6680G>T (p.Arg2227Ile)
c.6653G>T (p.Arg2218Ile)
c.6605G>T (p.Arg2202Ile)
c.6656G>T (p.Arg2219Ile)
c.6725G>T (p.Arg2242Ile)
c.6692G>T (p.Arg2231Ile)
c.6689G>T (p.Arg2230Ile)
c.6614G>T (p.Arg2205Ile)
3g.4788054A>CCA351640658ITPR1c.6734A>C (n.6734A>C)
c.6699A>C (p.Arg2233Ser)
c.6678A>C (p.Arg2226Ser)
c.6579A>C (p.Arg2193Ser)
c.6534A>C (p.Arg2178Ser)
n.615A>C
c.997-18049A>C (n.997-18049A>C)
c.2622A>C
n.4227A>C
c.3058A>C
c.4485A>C (p.Arg1495Ser)
c.3631A>C
c.6696A>C (p.Arg2232Ser)
c.6651A>C (p.Arg2217Ser)
c.447-58085A>C
c.4025A>C
n.557A>C
c.6723A>C (p.Arg2241Ser)
n.1771A>C
n.285A>C
n.4208A>C
c.6681A>C (p.Arg2227Ser)
c.6654A>C (p.Arg2218Ser)
c.6606A>C (p.Arg2202Ser)
c.6657A>C (p.Arg2219Ser)
c.6726A>C (p.Arg2242Ser)
c.6693A>C (p.Arg2231Ser)
c.6690A>C (p.Arg2230Ser)
c.6615A>C (p.Arg2205Ser)
3g.4788054A>GCA432323099ITPR1c.6734A>G (n.6734A>G)
c.6699A>G (p.Arg2233=)
c.6678A>G (p.Arg2226=)
c.6579A>G (p.Arg2193=)
c.6534A>G (p.Arg2178=)
n.615A>G
c.997-18049A>G (n.997-18049A>G)
c.2622A>G
n.4227A>G
c.3058A>G
c.4485A>G (p.Arg1495=)
c.3631A>G
c.6696A>G (p.Arg2232=)
c.6651A>G (p.Arg2217=)
c.447-58085A>G
c.4025A>G
n.557A>G
c.6723A>G (p.Arg2241=)
n.1771A>G
n.285A>G
n.4208A>G
c.6681A>G (p.Arg2227=)
c.6654A>G (p.Arg2218=)
c.6606A>G (p.Arg2202=)
c.6657A>G (p.Arg2219=)
c.6726A>G (p.Arg2242=)
c.6693A>G (p.Arg2231=)
c.6690A>G (p.Arg2230=)
c.6615A>G (p.Arg2205=)
3g.4788054A>TCA351640659ITPR1c.6734A>T (n.6734A>T)
c.6699A>T (p.Arg2233Ser)
c.6678A>T (p.Arg2226Ser)
c.6579A>T (p.Arg2193Ser)
c.6534A>T (p.Arg2178Ser)
n.615A>T
c.997-18049A>T (n.997-18049A>T)
c.2622A>T
n.4227A>T
c.3058A>T
c.4485A>T (p.Arg1495Ser)
c.3631A>T
c.6696A>T (p.Arg2232Ser)
c.6651A>T (p.Arg2217Ser)
c.447-58085A>T
c.4025A>T
n.557A>T
c.6723A>T (p.Arg2241Ser)
n.1771A>T
n.285A>T
n.4208A>T
c.6681A>T (p.Arg2227Ser)
c.6654A>T (p.Arg2218Ser)
c.6606A>T (p.Arg2202Ser)
c.6657A>T (p.Arg2219Ser)
c.6726A>T (p.Arg2242Ser)
c.6693A>T (p.Arg2231Ser)
c.6690A>T (p.Arg2230Ser)
c.6615A>T (p.Arg2205Ser)
3g.4788055G>ACA351640660ITPR1c.6735G>A (n.6735G>A)
c.6700G>A (p.Asp2234Asn)
c.6679G>A (p.Asp2227Asn)
c.6580G>A (p.Asp2194Asn)
c.6535G>A (p.Asp2179Asn)
n.616G>A
c.997-18048G>A (n.997-18048G>A)
c.2623G>A
n.4228G>A
c.3059G>A
c.4486G>A (p.Asp1496Asn)
c.3632G>A
c.6697G>A (p.Asp2233Asn)
c.6652G>A (p.Asp2218Asn)
c.447-58084G>A
c.4026G>A
n.558G>A
c.6724G>A (p.Asp2242Asn)
n.1772G>A
n.286G>A
n.4209G>A
c.6682G>A (p.Asp2228Asn)
c.6655G>A (p.Asp2219Asn)
c.6607G>A (p.Asp2203Asn)
c.6658G>A (p.Asp2220Asn)
c.6727G>A (p.Asp2243Asn)
c.6694G>A (p.Asp2232Asn)
c.6691G>A (p.Asp2231Asn)
c.6616G>A (p.Asp2206Asn)
3g.4788055G>CCA351640661ITPR1c.6735G>C (n.6735G>C)
c.6700G>C (p.Asp2234His)
c.6679G>C (p.Asp2227His)
c.6580G>C (p.Asp2194His)
c.6535G>C (p.Asp2179His)
n.616G>C
c.997-18048G>C (n.997-18048G>C)
c.2623G>C
n.4228G>C
c.3059G>C
c.4486G>C (p.Asp1496His)
c.3632G>C
c.6697G>C (p.Asp2233His)
c.6652G>C (p.Asp2218His)
c.447-58084G>C
c.4026G>C
n.558G>C
c.6724G>C (p.Asp2242His)
n.1772G>C
n.286G>C
n.4209G>C
c.6682G>C (p.Asp2228His)
c.6655G>C (p.Asp2219His)
c.6607G>C (p.Asp2203His)
c.6658G>C (p.Asp2220His)
c.6727G>C (p.Asp2243His)
c.6694G>C (p.Asp2232His)
c.6691G>C (p.Asp2231His)
c.6616G>C (p.Asp2206His)
3g.4788055G>TCA351640662ITPR1c.6735G>T (n.6735G>T)
c.6700G>T (p.Asp2234Tyr)
c.6679G>T (p.Asp2227Tyr)
c.6580G>T (p.Asp2194Tyr)
c.6535G>T (p.Asp2179Tyr)
n.616G>T
c.997-18048G>T (n.997-18048G>T)
c.2623G>T
n.4228G>T
c.3059G>T
c.4486G>T (p.Asp1496Tyr)
c.3632G>T
c.6697G>T (p.Asp2233Tyr)
c.6652G>T (p.Asp2218Tyr)
c.447-58084G>T
c.4026G>T
n.558G>T
c.6724G>T (p.Asp2242Tyr)
n.1772G>T
n.286G>T
n.4209G>T
c.6682G>T (p.Asp2228Tyr)
c.6655G>T (p.Asp2219Tyr)
c.6607G>T (p.Asp2203Tyr)
c.6658G>T (p.Asp2220Tyr)
c.6727G>T (p.Asp2243Tyr)
c.6694G>T (p.Asp2232Tyr)
c.6691G>T (p.Asp2231Tyr)
c.6616G>T (p.Asp2206Tyr)
3g.4788056A>CCA351640664ITPR1c.6736A>C (n.6736A>C)
c.6701A>C (p.Asp2234Ala)
c.6680A>C (p.Asp2227Ala)
c.6581A>C (p.Asp2194Ala)
c.6536A>C (p.Asp2179Ala)
n.617A>C
c.997-18047A>C (n.997-18047A>C)
c.2624A>C
n.4229A>C
c.3060A>C
c.4487A>C (p.Asp1496Ala)
c.3633A>C
c.6698A>C (p.Asp2233Ala)
c.6653A>C (p.Asp2218Ala)
c.447-58083A>C
c.4027A>C
n.559A>C
c.6725A>C (p.Asp2242Ala)
n.1773A>C
n.287A>C
n.4210A>C
c.6683A>C (p.Asp2228Ala)
c.6656A>C (p.Asp2219Ala)
c.6608A>C (p.Asp2203Ala)
c.6659A>C (p.Asp2220Ala)
c.6728A>C (p.Asp2243Ala)
c.6695A>C (p.Asp2232Ala)
c.6692A>C (p.Asp2231Ala)
c.6617A>C (p.Asp2206Ala)
3g.4788056A>GCA351640665ITPR1c.6736A>G (n.6736A>G)
c.6701A>G (p.Asp2234Gly)
c.6680A>G (p.Asp2227Gly)
c.6581A>G (p.Asp2194Gly)
c.6536A>G (p.Asp2179Gly)
n.617A>G
c.997-18047A>G (n.997-18047A>G)
c.2624A>G
n.4229A>G
c.3060A>G
c.4487A>G (p.Asp1496Gly)
c.3633A>G
c.6698A>G (p.Asp2233Gly)
c.6653A>G (p.Asp2218Gly)
c.447-58083A>G
c.4027A>G
n.559A>G
c.6725A>G (p.Asp2242Gly)
n.1773A>G
n.287A>G
n.4210A>G
c.6683A>G (p.Asp2228Gly)
c.6656A>G (p.Asp2219Gly)
c.6608A>G (p.Asp2203Gly)
c.6659A>G (p.Asp2220Gly)
c.6728A>G (p.Asp2243Gly)
c.6695A>G (p.Asp2232Gly)
c.6692A>G (p.Asp2231Gly)
c.6617A>G (p.Asp2206Gly)
3g.4788056A>TCA351640663ITPR1c.6736A>T (n.6736A>T)
c.6701A>T (p.Asp2234Val)
c.6680A>T (p.Asp2227Val)
c.6581A>T (p.Asp2194Val)
c.6536A>T (p.Asp2179Val)
n.617A>T
c.997-18047A>T (n.997-18047A>T)
c.2624A>T
n.4229A>T
c.3060A>T
c.4487A>T (p.Asp1496Val)
c.3633A>T
c.6698A>T (p.Asp2233Val)
c.6653A>T (p.Asp2218Val)
c.447-58083A>T
c.4027A>T
n.559A>T
c.6725A>T (p.Asp2242Val)
n.1773A>T
n.287A>T
n.4210A>T
c.6683A>T (p.Asp2228Val)
c.6656A>T (p.Asp2219Val)
c.6608A>T (p.Asp2203Val)
c.6659A>T (p.Asp2220Val)
c.6728A>T (p.Asp2243Val)
c.6695A>T (p.Asp2232Val)
c.6692A>T (p.Asp2231Val)
c.6617A>T (p.Asp2206Val)
3g.4788057C>ACA351640667ITPR1c.6737C>A (n.6737C>A)
c.6702C>A (p.Asp2234Glu)
c.6681C>A (p.Asp2227Glu)
c.6582C>A (p.Asp2194Glu)
c.6537C>A (p.Asp2179Glu)
n.618C>A
c.997-18046C>A (n.997-18046C>A)
c.2625C>A
n.4230C>A
c.3061C>A
c.4488C>A (p.Asp1496Glu)
c.3634C>A
c.6699C>A (p.Asp2233Glu)
c.6654C>A (p.Asp2218Glu)
c.447-58082C>A
c.4028C>A
n.560C>A
c.6726C>A (p.Asp2242Glu)
n.1774C>A
n.288C>A
n.4211C>A
c.6684C>A (p.Asp2228Glu)
c.6657C>A (p.Asp2219Glu)
c.6609C>A (p.Asp2203Glu)
c.6660C>A (p.Asp2220Glu)
c.6729C>A (p.Asp2243Glu)
c.6696C>A (p.Asp2232Glu)
c.6693C>A (p.Asp2231Glu)
c.6618C>A (p.Asp2206Glu)
3g.4788057C=CA1342337445ITPR1c.6737C= (n.6737C=)
c.6702C= (p.Asp2234=)
c.6681C= (p.Asp2227=)
c.6582C= (p.Asp2194=)
c.6537C= (p.Asp2179=)
n.618C=
c.997-18046C= (n.997-18046C=)
c.2625C=
n.4230C=
c.3061C=
c.4488C= (p.Asp1496=)
c.3634C=
c.6699C= (p.Asp2233=)
c.6654C= (p.Asp2218=)
c.447-58082C=
c.4028C=
n.560C=
c.6726C= (p.Asp2242=)
n.1774C=
n.288C=
n.4211C=
c.6684C= (p.Asp2228=)
c.6657C= (p.Asp2219=)
c.6609C= (p.Asp2203=)
c.6660C= (p.Asp2220=)
c.6729C= (p.Asp2243=)
c.6696C= (p.Asp2232=)
c.6693C= (p.Asp2231=)
c.6618C= (p.Asp2206=)
3g.4788057C>GCA351640666ITPR1c.6737C>G (n.6737C>G)
c.6702C>G (p.Asp2234Glu)
c.6681C>G (p.Asp2227Glu)
c.6582C>G (p.Asp2194Glu)
c.6537C>G (p.Asp2179Glu)
n.618C>G
c.997-18046C>G (n.997-18046C>G)
c.2625C>G
n.4230C>G
c.3061C>G
c.4488C>G (p.Asp1496Glu)
c.3634C>G
c.6699C>G (p.Asp2233Glu)
c.6654C>G (p.Asp2218Glu)
c.447-58082C>G
c.4028C>G
n.560C>G
c.6726C>G (p.Asp2242Glu)
n.1774C>G
n.288C>G
n.4211C>G
c.6684C>G (p.Asp2228Glu)
c.6657C>G (p.Asp2219Glu)
c.6609C>G (p.Asp2203Glu)
c.6660C>G (p.Asp2220Glu)
c.6729C>G (p.Asp2243Glu)
c.6696C>G (p.Asp2232Glu)
c.6693C>G (p.Asp2231Glu)
c.6618C>G (p.Asp2206Glu)
3g.4788057C>TCA2232658ITPR1c.6737C>T (n.6737C>T)
c.6702C>T (p.Asp2234=)
c.6681C>T (p.Asp2227=)
c.6582C>T (p.Asp2194=)
c.6537C>T (p.Asp2179=)
n.618C>T
c.997-18046C>T (n.997-18046C>T)
c.2625C>T
n.4230C>T
c.3061C>T
c.4488C>T (p.Asp1496=)
c.3634C>T
c.6699C>T (p.Asp2233=)
c.6654C>T (p.Asp2218=)
c.447-58082C>T
c.4028C>T
n.560C>T
c.6726C>T (p.Asp2242=)
n.1774C>T
n.288C>T
n.4211C>T
c.6684C>T (p.Asp2228=)
c.6657C>T (p.Asp2219=)
c.6609C>T (p.Asp2203=)
c.6660C>T (p.Asp2220=)
c.6729C>T (p.Asp2243=)
c.6696C>T (p.Asp2232=)
c.6693C>T (p.Asp2231=)
c.6618C>T (p.Asp2206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788058G>ACA351640668ITPR1c.6738G>A (n.6738G>A)
c.6703G>A (p.Glu2235Lys)
c.6682G>A (p.Glu2228Lys)
c.6583G>A (p.Glu2195Lys)
c.6538G>A (p.Glu2180Lys)
n.619G>A
c.997-18045G>A (n.997-18045G>A)
c.2626G>A
n.4231G>A
c.3062G>A
c.4489G>A (p.Glu1497Lys)
c.3635G>A
c.6700G>A (p.Glu2234Lys)
c.6655G>A (p.Glu2219Lys)
c.447-58081G>A
c.4029G>A
n.561G>A
c.6727G>A (p.Glu2243Lys)
n.1775G>A
n.289G>A
n.4212G>A
c.6685G>A (p.Glu2229Lys)
c.6658G>A (p.Glu2220Lys)
c.6610G>A (p.Glu2204Lys)
c.6661G>A (p.Glu2221Lys)
c.6730G>A (p.Glu2244Lys)
c.6697G>A (p.Glu2233Lys)
c.6694G>A (p.Glu2232Lys)
c.6619G>A (p.Glu2207Lys)
 COSMIC COSMIC COSMIC
3g.4788058G>CCA351640670ITPR1c.6738G>C (n.6738G>C)
c.6703G>C (p.Glu2235Gln)
c.6682G>C (p.Glu2228Gln)
c.6583G>C (p.Glu2195Gln)
c.6538G>C (p.Glu2180Gln)
n.619G>C
c.997-18045G>C (n.997-18045G>C)
c.2626G>C
n.4231G>C
c.3062G>C
c.4489G>C (p.Glu1497Gln)
c.3635G>C
c.6700G>C (p.Glu2234Gln)
c.6655G>C (p.Glu2219Gln)
c.447-58081G>C
c.4029G>C
n.561G>C
c.6727G>C (p.Glu2243Gln)
n.1775G>C
n.289G>C
n.4212G>C
c.6685G>C (p.Glu2229Gln)
c.6658G>C (p.Glu2220Gln)
c.6610G>C (p.Glu2204Gln)
c.6661G>C (p.Glu2221Gln)
c.6730G>C (p.Glu2244Gln)
c.6697G>C (p.Glu2233Gln)
c.6694G>C (p.Glu2232Gln)
c.6619G>C (p.Glu2207Gln)
3g.4788058G>TCA351640669ITPR1c.6738G>T (n.6738G>T)
c.6703G>T (p.Glu2235Ter)
c.6682G>T (p.Glu2228Ter)
c.6583G>T (p.Glu2195Ter)
c.6538G>T (p.Glu2180Ter)
n.619G>T
c.997-18045G>T (n.997-18045G>T)
c.2626G>T
n.4231G>T
c.3062G>T
c.4489G>T (p.Glu1497Ter)
c.3635G>T
c.6700G>T (p.Glu2234Ter)
c.6655G>T (p.Glu2219Ter)
c.447-58081G>T
c.4029G>T
n.561G>T
c.6727G>T (p.Glu2243Ter)
n.1775G>T
n.289G>T
n.4212G>T
c.6685G>T (p.Glu2229Ter)
c.6658G>T (p.Glu2220Ter)
c.6610G>T (p.Glu2204Ter)
c.6661G>T (p.Glu2221Ter)
c.6730G>T (p.Glu2244Ter)
c.6697G>T (p.Glu2233Ter)
c.6694G>T (p.Glu2232Ter)
c.6619G>T (p.Glu2207Ter)
 gnomAD v4
3g.4788059A>CCA351640671ITPR1c.6739A>C (n.6739A>C)
c.6704A>C (p.Glu2235Ala)
c.6683A>C (p.Glu2228Ala)
c.6584A>C (p.Glu2195Ala)
c.6539A>C (p.Glu2180Ala)
n.620A>C
c.997-18044A>C (n.997-18044A>C)
c.2627A>C
n.4232A>C
c.3063A>C
c.4490A>C (p.Glu1497Ala)
c.3636A>C
c.6701A>C (p.Glu2234Ala)
c.6656A>C (p.Glu2219Ala)
c.447-58080A>C
c.4030A>C
n.562A>C
c.6728A>C (p.Glu2243Ala)
n.1776A>C
n.290A>C
n.4213A>C
c.6686A>C (p.Glu2229Ala)
c.6659A>C (p.Glu2220Ala)
c.6611A>C (p.Glu2204Ala)
c.6662A>C (p.Glu2221Ala)
c.6731A>C (p.Glu2244Ala)
c.6698A>C (p.Glu2233Ala)
c.6695A>C (p.Glu2232Ala)
c.6620A>C (p.Glu2207Ala)
3g.4788059A>GCA351640673ITPR1c.6739A>G (n.6739A>G)
c.6704A>G (p.Glu2235Gly)
c.6683A>G (p.Glu2228Gly)
c.6584A>G (p.Glu2195Gly)
c.6539A>G (p.Glu2180Gly)
n.620A>G
c.997-18044A>G (n.997-18044A>G)
c.2627A>G
n.4232A>G
c.3063A>G
c.4490A>G (p.Glu1497Gly)
c.3636A>G
c.6701A>G (p.Glu2234Gly)
c.6656A>G (p.Glu2219Gly)
c.447-58080A>G
c.4030A>G
n.562A>G
c.6728A>G (p.Glu2243Gly)
n.1776A>G
n.290A>G
n.4213A>G
c.6686A>G (p.Glu2229Gly)
c.6659A>G (p.Glu2220Gly)
c.6611A>G (p.Glu2204Gly)
c.6662A>G (p.Glu2221Gly)
c.6731A>G (p.Glu2244Gly)
c.6698A>G (p.Glu2233Gly)
c.6695A>G (p.Glu2232Gly)
c.6620A>G (p.Glu2207Gly)
3g.4788059A>TCA351640672ITPR1c.6739A>T (n.6739A>T)
c.6704A>T (p.Glu2235Val)
c.6683A>T (p.Glu2228Val)
c.6584A>T (p.Glu2195Val)
c.6539A>T (p.Glu2180Val)
n.620A>T
c.997-18044A>T (n.997-18044A>T)
c.2627A>T
n.4232A>T
c.3063A>T
c.4490A>T (p.Glu1497Val)
c.3636A>T
c.6701A>T (p.Glu2234Val)
c.6656A>T (p.Glu2219Val)
c.447-58080A>T
c.4030A>T
n.562A>T
c.6728A>T (p.Glu2243Val)
n.1776A>T
n.290A>T
n.4213A>T
c.6686A>T (p.Glu2229Val)
c.6659A>T (p.Glu2220Val)
c.6611A>T (p.Glu2204Val)
c.6662A>T (p.Glu2221Val)
c.6731A>T (p.Glu2244Val)
c.6698A>T (p.Glu2233Val)
c.6695A>T (p.Glu2232Val)
c.6620A>T (p.Glu2207Val)
3g.4788060A>CCA351640674ITPR1c.6740A>C (n.6740A>C)
c.6705A>C (p.Glu2235Asp)
c.6684A>C (p.Glu2228Asp)
c.6585A>C (p.Glu2195Asp)
c.6540A>C (p.Glu2180Asp)
n.621A>C
c.997-18043A>C (n.997-18043A>C)
c.2628A>C
n.4233A>C
c.3064A>C
c.4491A>C (p.Glu1497Asp)
c.3637A>C
c.6702A>C (p.Glu2234Asp)
c.6657A>C (p.Glu2219Asp)
c.447-58079A>C
c.4031A>C
n.563A>C
c.6729A>C (p.Glu2243Asp)
n.1777A>C
n.291A>C
n.4214A>C
c.6687A>C (p.Glu2229Asp)
c.6660A>C (p.Glu2220Asp)
c.6612A>C (p.Glu2204Asp)
c.6663A>C (p.Glu2221Asp)
c.6732A>C (p.Glu2244Asp)
c.6699A>C (p.Glu2233Asp)
c.6696A>C (p.Glu2232Asp)
c.6621A>C (p.Glu2207Asp)
3g.4788060A>GCA432323145ITPR1c.6740A>G (n.6740A>G)
c.6705A>G (p.Glu2235=)
c.6684A>G (p.Glu2228=)
c.6585A>G (p.Glu2195=)
c.6540A>G (p.Glu2180=)
n.621A>G
c.997-18043A>G (n.997-18043A>G)
c.2628A>G
n.4233A>G
c.3064A>G
c.4491A>G (p.Glu1497=)
c.3637A>G
c.6702A>G (p.Glu2234=)
c.6657A>G (p.Glu2219=)
c.447-58079A>G
c.4031A>G
n.563A>G
c.6729A>G (p.Glu2243=)
n.1777A>G
n.291A>G
n.4214A>G
c.6687A>G (p.Glu2229=)
c.6660A>G (p.Glu2220=)
c.6612A>G (p.Glu2204=)
c.6663A>G (p.Glu2221=)
c.6732A>G (p.Glu2244=)
c.6699A>G (p.Glu2233=)
c.6696A>G (p.Glu2232=)
c.6621A>G (p.Glu2207=)
3g.4788060A>TCA351640675ITPR1c.6740A>T (n.6740A>T)
c.6705A>T (p.Glu2235Asp)
c.6684A>T (p.Glu2228Asp)
c.6585A>T (p.Glu2195Asp)
c.6540A>T (p.Glu2180Asp)
n.621A>T
c.997-18043A>T (n.997-18043A>T)
c.2628A>T
n.4233A>T
c.3064A>T
c.4491A>T (p.Glu1497Asp)
c.3637A>T
c.6702A>T (p.Glu2234Asp)
c.6657A>T (p.Glu2219Asp)
c.447-58079A>T
c.4031A>T
n.563A>T
c.6729A>T (p.Glu2243Asp)
n.1777A>T
n.291A>T
n.4214A>T
c.6687A>T (p.Glu2229Asp)
c.6660A>T (p.Glu2220Asp)
c.6612A>T (p.Glu2204Asp)
c.6663A>T (p.Glu2221Asp)
c.6732A>T (p.Glu2244Asp)
c.6699A>T (p.Glu2233Asp)
c.6696A>T (p.Glu2232Asp)
c.6621A>T (p.Glu2207Asp)
3g.4788061C>ACA351640676ITPR1c.6741C>A (n.6741C>A)
c.6706C>A (p.Gln2236Lys)
c.6685C>A (p.Gln2229Lys)
c.6586C>A (p.Gln2196Lys)
c.6541C>A (p.Gln2181Lys)
n.622C>A
c.997-18042C>A (n.997-18042C>A)
c.2629C>A
n.4234C>A
c.3065C>A
c.4492C>A (p.Gln1498Lys)
c.3638C>A
c.6703C>A (p.Gln2235Lys)
c.6658C>A (p.Gln2220Lys)
c.447-58078C>A
c.4032C>A
n.564C>A
c.6730C>A (p.Gln2244Lys)
n.1778C>A
n.292C>A
n.4215C>A
c.6688C>A (p.Gln2230Lys)
c.6661C>A (p.Gln2221Lys)
c.6613C>A (p.Gln2205Lys)
c.6664C>A (p.Gln2222Lys)
c.6733C>A (p.Gln2245Lys)
c.6700C>A (p.Gln2234Lys)
c.6697C>A (p.Gln2233Lys)
c.6622C>A (p.Gln2208Lys)
3g.4788061C>GCA351640677ITPR1c.6741C>G (n.6741C>G)
c.6706C>G (p.Gln2236Glu)
c.6685C>G (p.Gln2229Glu)
c.6586C>G (p.Gln2196Glu)
c.6541C>G (p.Gln2181Glu)
n.622C>G
c.997-18042C>G (n.997-18042C>G)
c.2629C>G
n.4234C>G
c.3065C>G
c.4492C>G (p.Gln1498Glu)
c.3638C>G
c.6703C>G (p.Gln2235Glu)
c.6658C>G (p.Gln2220Glu)
c.447-58078C>G
c.4032C>G
n.564C>G
c.6730C>G (p.Gln2244Glu)
n.1778C>G
n.292C>G
n.4215C>G
c.6688C>G (p.Gln2230Glu)
c.6661C>G (p.Gln2221Glu)
c.6613C>G (p.Gln2205Glu)
c.6664C>G (p.Gln2222Glu)
c.6733C>G (p.Gln2245Glu)
c.6700C>G (p.Gln2234Glu)
c.6697C>G (p.Gln2233Glu)
c.6622C>G (p.Gln2208Glu)
3g.4788061C>TCA351640678ITPR1c.6741C>T (n.6741C>T)
c.6706C>T (p.Gln2236Ter)
c.6685C>T (p.Gln2229Ter)
c.6586C>T (p.Gln2196Ter)
c.6541C>T (p.Gln2181Ter)
n.622C>T
c.997-18042C>T (n.997-18042C>T)
c.2629C>T
n.4234C>T
c.3065C>T
c.4492C>T (p.Gln1498Ter)
c.3638C>T
c.6703C>T (p.Gln2235Ter)
c.6658C>T (p.Gln2220Ter)
c.447-58078C>T
c.4032C>T
n.564C>T
c.6730C>T (p.Gln2244Ter)
n.1778C>T
n.292C>T
n.4215C>T
c.6688C>T (p.Gln2230Ter)
c.6661C>T (p.Gln2221Ter)
c.6613C>T (p.Gln2205Ter)
c.6664C>T (p.Gln2222Ter)
c.6733C>T (p.Gln2245Ter)
c.6700C>T (p.Gln2234Ter)
c.6697C>T (p.Gln2233Ter)
c.6622C>T (p.Gln2208Ter)
3g.4788062A>CCA351640679ITPR1c.6742A>C (n.6742A>C)
c.6707A>C (p.Gln2236Pro)
c.6686A>C (p.Gln2229Pro)
c.6587A>C (p.Gln2196Pro)
c.6542A>C (p.Gln2181Pro)
n.623A>C
c.997-18041A>C (n.997-18041A>C)
c.2630A>C
n.4235A>C
c.3066A>C
c.4493A>C (p.Gln1498Pro)
c.3639A>C
c.6704A>C (p.Gln2235Pro)
c.6659A>C (p.Gln2220Pro)
c.447-58077A>C
c.4033A>C
n.565A>C
c.6731A>C (p.Gln2244Pro)
n.1779A>C
n.293A>C
n.4216A>C
c.6689A>C (p.Gln2230Pro)
c.6662A>C (p.Gln2221Pro)
c.6614A>C (p.Gln2205Pro)
c.6665A>C (p.Gln2222Pro)
c.6734A>C (p.Gln2245Pro)
c.6701A>C (p.Gln2234Pro)
c.6698A>C (p.Gln2233Pro)
c.6623A>C (p.Gln2208Pro)
3g.4788062A>GCA351640680ITPR1c.6742A>G (n.6742A>G)
c.6707A>G (p.Gln2236Arg)
c.6686A>G (p.Gln2229Arg)
c.6587A>G (p.Gln2196Arg)
c.6542A>G (p.Gln2181Arg)
n.623A>G
c.997-18041A>G (n.997-18041A>G)
c.2630A>G
n.4235A>G
c.3066A>G
c.4493A>G (p.Gln1498Arg)
c.3639A>G
c.6704A>G (p.Gln2235Arg)
c.6659A>G (p.Gln2220Arg)
c.447-58077A>G
c.4033A>G
n.565A>G
c.6731A>G (p.Gln2244Arg)
n.1779A>G
n.293A>G
n.4216A>G
c.6689A>G (p.Gln2230Arg)
c.6662A>G (p.Gln2221Arg)
c.6614A>G (p.Gln2205Arg)
c.6665A>G (p.Gln2222Arg)
c.6734A>G (p.Gln2245Arg)
c.6701A>G (p.Gln2234Arg)
c.6698A>G (p.Gln2233Arg)
c.6623A>G (p.Gln2208Arg)
3g.4788062A>TCA351640681ITPR1c.6742A>T (n.6742A>T)
c.6707A>T (p.Gln2236Leu)
c.6686A>T (p.Gln2229Leu)
c.6587A>T (p.Gln2196Leu)
c.6542A>T (p.Gln2181Leu)
n.623A>T
c.997-18041A>T (n.997-18041A>T)
c.2630A>T
n.4235A>T
c.3066A>T
c.4493A>T (p.Gln1498Leu)
c.3639A>T
c.6704A>T (p.Gln2235Leu)
c.6659A>T (p.Gln2220Leu)
c.447-58077A>T
c.4033A>T
n.565A>T
c.6731A>T (p.Gln2244Leu)
n.1779A>T
n.293A>T
n.4216A>T
c.6689A>T (p.Gln2230Leu)
c.6662A>T (p.Gln2221Leu)
c.6614A>T (p.Gln2205Leu)
c.6665A>T (p.Gln2222Leu)
c.6734A>T (p.Gln2245Leu)
c.6701A>T (p.Gln2234Leu)
c.6698A>T (p.Gln2233Leu)
c.6623A>T (p.Gln2208Leu)
3g.4788063A>CCA351640682ITPR1c.6743A>C (n.6743A>C)
c.6708A>C (p.Gln2236His)
c.6687A>C (p.Gln2229His)
c.6588A>C (p.Gln2196His)
c.6543A>C (p.Gln2181His)
n.624A>C
c.997-18040A>C (n.997-18040A>C)
c.2631A>C
n.4236A>C
c.3067A>C
c.4494A>C (p.Gln1498His)
c.3640A>C
c.6705A>C (p.Gln2235His)
c.6660A>C (p.Gln2220His)
c.447-58076A>C
c.4034A>C
n.566A>C
c.6732A>C (p.Gln2244His)
n.1780A>C
n.294A>C
n.4217A>C
c.6690A>C (p.Gln2230His)
c.6663A>C (p.Gln2221His)
c.6615A>C (p.Gln2205His)
c.6666A>C (p.Gln2222His)
c.6735A>C (p.Gln2245His)
c.6702A>C (p.Gln2234His)
c.6699A>C (p.Gln2233His)
c.6624A>C (p.Gln2208His)
3g.4788063A>GCA432323154ITPR1c.6743A>G (n.6743A>G)
c.6708A>G (p.Gln2236=)
c.6687A>G (p.Gln2229=)
c.6588A>G (p.Gln2196=)
c.6543A>G (p.Gln2181=)
n.624A>G
c.997-18040A>G (n.997-18040A>G)
c.2631A>G
n.4236A>G
c.3067A>G
c.4494A>G (p.Gln1498=)
c.3640A>G
c.6705A>G (p.Gln2235=)
c.6660A>G (p.Gln2220=)
c.447-58076A>G
c.4034A>G
n.566A>G
c.6732A>G (p.Gln2244=)
n.1780A>G
n.294A>G
n.4217A>G
c.6690A>G (p.Gln2230=)
c.6663A>G (p.Gln2221=)
c.6615A>G (p.Gln2205=)
c.6666A>G (p.Gln2222=)
c.6735A>G (p.Gln2245=)
c.6702A>G (p.Gln2234=)
c.6699A>G (p.Gln2233=)
c.6624A>G (p.Gln2208=)
3g.4788063A>TCA351640683ITPR1c.6743A>T (n.6743A>T)
c.6708A>T (p.Gln2236His)
c.6687A>T (p.Gln2229His)
c.6588A>T (p.Gln2196His)
c.6543A>T (p.Gln2181His)
n.624A>T
c.997-18040A>T (n.997-18040A>T)
c.2631A>T
n.4236A>T
c.3067A>T
c.4494A>T (p.Gln1498His)
c.3640A>T
c.6705A>T (p.Gln2235His)
c.6660A>T (p.Gln2220His)
c.447-58076A>T
c.4034A>T
n.566A>T
c.6732A>T (p.Gln2244His)
n.1780A>T
n.294A>T
n.4217A>T
c.6690A>T (p.Gln2230His)
c.6663A>T (p.Gln2221His)
c.6615A>T (p.Gln2205His)
c.6666A>T (p.Gln2222His)
c.6735A>T (p.Gln2245His)
c.6702A>T (p.Gln2234His)
c.6699A>T (p.Gln2233His)
c.6624A>T (p.Gln2208His)
3g.4788064G>ACA351640684ITPR1c.6744G>A (n.6744G>A)
c.6709G>A (p.Gly2237Ser)
c.6688G>A (p.Gly2230Ser)
c.6589G>A (p.Gly2197Ser)
c.6544G>A (p.Gly2182Ser)
n.625G>A
c.997-18039G>A (n.997-18039G>A)
c.2632G>A
n.4237G>A
c.3068G>A
c.4495G>A (p.Gly1499Ser)
c.3641G>A
c.6706G>A (p.Gly2236Ser)
c.6661G>A (p.Gly2221Ser)
c.447-58075G>A
c.4035G>A
n.567G>A
c.6733G>A (p.Gly2245Ser)
n.1781G>A
n.295G>A
n.4218G>A
c.6691G>A (p.Gly2231Ser)
c.6664G>A (p.Gly2222Ser)
c.6616G>A (p.Gly2206Ser)
c.6667G>A (p.Gly2223Ser)
c.6736G>A (p.Gly2246Ser)
c.6703G>A (p.Gly2235Ser)
c.6700G>A (p.Gly2234Ser)
c.6625G>A (p.Gly2209Ser)
 dbSNP
3g.4788064G>CCA351640685ITPR1c.6744G>C (n.6744G>C)
c.6709G>C (p.Gly2237Arg)
c.6688G>C (p.Gly2230Arg)
c.6589G>C (p.Gly2197Arg)
c.6544G>C (p.Gly2182Arg)
n.625G>C
c.997-18039G>C (n.997-18039G>C)
c.2632G>C
n.4237G>C
c.3068G>C
c.4495G>C (p.Gly1499Arg)
c.3641G>C
c.6706G>C (p.Gly2236Arg)
c.6661G>C (p.Gly2221Arg)
c.447-58075G>C
c.4035G>C
n.567G>C
c.6733G>C (p.Gly2245Arg)
n.1781G>C
n.295G>C
n.4218G>C
c.6691G>C (p.Gly2231Arg)
c.6664G>C (p.Gly2222Arg)
c.6616G>C (p.Gly2206Arg)
c.6667G>C (p.Gly2223Arg)
c.6736G>C (p.Gly2246Arg)
c.6703G>C (p.Gly2235Arg)
c.6700G>C (p.Gly2234Arg)
c.6625G>C (p.Gly2209Arg)
3g.4788064G=CA1342337446ITPR1c.6744G= (n.6744G=)
c.6709G= (p.Gly2237=)
c.6688G= (p.Gly2230=)
c.6589G= (p.Gly2197=)
c.6544G= (p.Gly2182=)
n.625G=
c.997-18039G= (n.997-18039G=)
c.2632G=
n.4237G=
c.3068G=
c.4495G= (p.Gly1499=)
c.3641G=
c.6706G= (p.Gly2236=)
c.6661G= (p.Gly2221=)
c.447-58075G=
c.4035G=
n.567G=
c.6733G= (p.Gly2245=)
n.1781G=
n.295G=
n.4218G=
c.6691G= (p.Gly2231=)
c.6664G= (p.Gly2222=)
c.6616G= (p.Gly2206=)
c.6667G= (p.Gly2223=)
c.6736G= (p.Gly2246=)
c.6703G= (p.Gly2235=)
c.6700G= (p.Gly2234=)
c.6625G= (p.Gly2209=)
3g.4788064G>TCA351640686ITPR1c.6744G>T (n.6744G>T)
c.6709G>T (p.Gly2237Cys)
c.6688G>T (p.Gly2230Cys)
c.6589G>T (p.Gly2197Cys)
c.6544G>T (p.Gly2182Cys)
n.625G>T
c.997-18039G>T (n.997-18039G>T)
c.2632G>T
n.4237G>T
c.3068G>T
c.4495G>T (p.Gly1499Cys)
c.3641G>T
c.6706G>T (p.Gly2236Cys)
c.6661G>T (p.Gly2221Cys)
c.447-58075G>T
c.4035G>T
n.567G>T
c.6733G>T (p.Gly2245Cys)
n.1781G>T
n.295G>T
n.4218G>T
c.6691G>T (p.Gly2231Cys)
c.6664G>T (p.Gly2222Cys)
c.6616G>T (p.Gly2206Cys)
c.6667G>T (p.Gly2223Cys)
c.6736G>T (p.Gly2246Cys)
c.6703G>T (p.Gly2235Cys)
c.6700G>T (p.Gly2234Cys)
c.6625G>T (p.Gly2209Cys)
3g.4788065G>ACA351640687ITPR1c.6745G>A (n.6745G>A)
c.6710G>A (p.Gly2237Asp)
c.6689G>A (p.Gly2230Asp)
c.6590G>A (p.Gly2197Asp)
c.6545G>A (p.Gly2182Asp)
n.626G>A
c.997-18038G>A (n.997-18038G>A)
c.2633G>A
n.4238G>A
c.3069G>A
c.4496G>A (p.Gly1499Asp)
c.3642G>A
c.6707G>A (p.Gly2236Asp)
c.6662G>A (p.Gly2221Asp)
c.447-58074G>A
c.4036G>A
n.568G>A
c.6734G>A (p.Gly2245Asp)
n.1782G>A
n.296G>A
n.4219G>A
c.6692G>A (p.Gly2231Asp)
c.6665G>A (p.Gly2222Asp)
c.6617G>A (p.Gly2206Asp)
c.6668G>A (p.Gly2223Asp)
c.6737G>A (p.Gly2246Asp)
c.6704G>A (p.Gly2235Asp)
c.6701G>A (p.Gly2234Asp)
c.6626G>A (p.Gly2209Asp)
 dbSNP gnomAD v2
3g.4788065G>CCA351640689ITPR1c.6745G>C (n.6745G>C)
c.6710G>C (p.Gly2237Ala)
c.6689G>C (p.Gly2230Ala)
c.6590G>C (p.Gly2197Ala)
c.6545G>C (p.Gly2182Ala)
n.626G>C
c.997-18038G>C (n.997-18038G>C)
c.2633G>C
n.4238G>C
c.3069G>C
c.4496G>C (p.Gly1499Ala)
c.3642G>C
c.6707G>C (p.Gly2236Ala)
c.6662G>C (p.Gly2221Ala)
c.447-58074G>C
c.4036G>C
n.568G>C
c.6734G>C (p.Gly2245Ala)
n.1782G>C
n.296G>C
n.4219G>C
c.6692G>C (p.Gly2231Ala)
c.6665G>C (p.Gly2222Ala)
c.6617G>C (p.Gly2206Ala)
c.6668G>C (p.Gly2223Ala)
c.6737G>C (p.Gly2246Ala)
c.6704G>C (p.Gly2235Ala)
c.6701G>C (p.Gly2234Ala)
c.6626G>C (p.Gly2209Ala)
3g.4788065G=CA1342337447ITPR1c.6745G= (n.6745G=)
c.6710G= (p.Gly2237=)
c.6689G= (p.Gly2230=)
c.6590G= (p.Gly2197=)
c.6545G= (p.Gly2182=)
n.626G=
c.997-18038G= (n.997-18038G=)
c.2633G=
n.4238G=
c.3069G=
c.4496G= (p.Gly1499=)
c.3642G=
c.6707G= (p.Gly2236=)
c.6662G= (p.Gly2221=)
c.447-58074G=
c.4036G=
n.568G=
c.6734G= (p.Gly2245=)
n.1782G=
n.296G=
n.4219G=
c.6692G= (p.Gly2231=)
c.6665G= (p.Gly2222=)
c.6617G= (p.Gly2206=)
c.6668G= (p.Gly2223=)
c.6737G= (p.Gly2246=)
c.6704G= (p.Gly2235=)
c.6701G= (p.Gly2234=)
c.6626G= (p.Gly2209=)
3g.4788065G>TCA351640688ITPR1c.6745G>T (n.6745G>T)
c.6710G>T (p.Gly2237Val)
c.6689G>T (p.Gly2230Val)
c.6590G>T (p.Gly2197Val)
c.6545G>T (p.Gly2182Val)
n.626G>T
c.997-18038G>T (n.997-18038G>T)
c.2633G>T
n.4238G>T
c.3069G>T
c.4496G>T (p.Gly1499Val)
c.3642G>T
c.6707G>T (p.Gly2236Val)
c.6662G>T (p.Gly2221Val)
c.447-58074G>T
c.4036G>T
n.568G>T
c.6734G>T (p.Gly2245Val)
n.1782G>T
n.296G>T
n.4219G>T
c.6692G>T (p.Gly2231Val)
c.6665G>T (p.Gly2222Val)
c.6617G>T (p.Gly2206Val)
c.6668G>T (p.Gly2223Val)
c.6737G>T (p.Gly2246Val)
c.6704G>T (p.Gly2235Val)
c.6701G>T (p.Gly2234Val)
c.6626G>T (p.Gly2209Val)
3g.4788066C>ACA2232659ITPR1c.6746C>A (n.6746C>A)
c.6711C>A (p.Gly2237=)
c.6690C>A (p.Gly2230=)
c.6591C>A (p.Gly2197=)
c.6546C>A (p.Gly2182=)
n.627C>A
c.997-18037C>A (n.997-18037C>A)
c.2634C>A
n.4239C>A
c.3070C>A
c.4497C>A (p.Gly1499=)
c.3643C>A
c.6708C>A (p.Gly2236=)
c.6663C>A (p.Gly2221=)
c.447-58073C>A
c.4037C>A
n.569C>A
c.6735C>A (p.Gly2245=)
n.1783C>A
n.297C>A
n.4220C>A
c.6693C>A (p.Gly2231=)
c.6666C>A (p.Gly2222=)
c.6618C>A (p.Gly2206=)
c.6669C>A (p.Gly2223=)
c.6738C>A (p.Gly2246=)
c.6705C>A (p.Gly2235=)
c.6702C>A (p.Gly2234=)
c.6627C>A (p.Gly2209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788066C=CA1342337448ITPR1c.6746C= (n.6746C=)
c.6711C= (p.Gly2237=)
c.6690C= (p.Gly2230=)
c.6591C= (p.Gly2197=)
c.6546C= (p.Gly2182=)
n.627C=
c.997-18037C= (n.997-18037C=)
c.2634C=
n.4239C=
c.3070C=
c.4497C= (p.Gly1499=)
c.3643C=
c.6708C= (p.Gly2236=)
c.6663C= (p.Gly2221=)
c.447-58073C=
c.4037C=
n.569C=
c.6735C= (p.Gly2245=)
n.1783C=
n.297C=
n.4220C=
c.6693C= (p.Gly2231=)
c.6666C= (p.Gly2222=)
c.6618C= (p.Gly2206=)
c.6669C= (p.Gly2223=)
c.6738C= (p.Gly2246=)
c.6705C= (p.Gly2235=)
c.6702C= (p.Gly2234=)
c.6627C= (p.Gly2209=)
3g.4788066C>GCA432323167ITPR1c.6746C>G (n.6746C>G)
c.6711C>G (p.Gly2237=)
c.6690C>G (p.Gly2230=)
c.6591C>G (p.Gly2197=)
c.6546C>G (p.Gly2182=)
n.627C>G
c.997-18037C>G (n.997-18037C>G)
c.2634C>G
n.4239C>G
c.3070C>G
c.4497C>G (p.Gly1499=)
c.3643C>G
c.6708C>G (p.Gly2236=)
c.6663C>G (p.Gly2221=)
c.447-58073C>G
c.4037C>G
n.569C>G
c.6735C>G (p.Gly2245=)
n.1783C>G
n.297C>G
n.4220C>G
c.6693C>G (p.Gly2231=)
c.6666C>G (p.Gly2222=)
c.6618C>G (p.Gly2206=)
c.6669C>G (p.Gly2223=)
c.6738C>G (p.Gly2246=)
c.6705C>G (p.Gly2235=)
c.6702C>G (p.Gly2234=)
c.6627C>G (p.Gly2209=)
3g.4788066C>TCA432323164ITPR1c.6746C>T (n.6746C>T)
c.6711C>T (p.Gly2237=)
c.6690C>T (p.Gly2230=)
c.6591C>T (p.Gly2197=)
c.6546C>T (p.Gly2182=)
n.627C>T
c.997-18037C>T (n.997-18037C>T)
c.2634C>T
n.4239C>T
c.3070C>T
c.4497C>T (p.Gly1499=)
c.3643C>T
c.6708C>T (p.Gly2236=)
c.6663C>T (p.Gly2221=)
c.447-58073C>T
c.4037C>T
n.569C>T
c.6735C>T (p.Gly2245=)
n.1783C>T
n.297C>T
n.4220C>T
c.6693C>T (p.Gly2231=)
c.6666C>T (p.Gly2222=)
c.6618C>T (p.Gly2206=)
c.6669C>T (p.Gly2223=)
c.6738C>T (p.Gly2246=)
c.6705C>T (p.Gly2235=)
c.6702C>T (p.Gly2234=)
c.6627C>T (p.Gly2209=)
3g.4788067A>CCA351640690ITPR1c.6747A>C (n.6747A>C)
c.6712A>C (p.Ser2238Arg)
c.6691A>C (p.Ser2231Arg)
c.6592A>C (p.Ser2198Arg)
c.6547A>C (p.Ser2183Arg)
n.628A>C
c.997-18036A>C (n.997-18036A>C)
c.2635A>C
n.4240A>C
c.3071A>C
c.4498A>C (p.Ser1500Arg)
c.3644A>C
c.6709A>C (p.Ser2237Arg)
c.6664A>C (p.Ser2222Arg)
c.447-58072A>C
c.4038A>C
n.570A>C
c.6736A>C (p.Ser2246Arg)
n.1784A>C
n.298A>C
n.4221A>C
c.6694A>C (p.Ser2232Arg)
c.6667A>C (p.Ser2223Arg)
c.6619A>C (p.Ser2207Arg)
c.6670A>C (p.Ser2224Arg)
c.6739A>C (p.Ser2247Arg)
c.6706A>C (p.Ser2236Arg)
c.6703A>C (p.Ser2235Arg)
c.6628A>C (p.Ser2210Arg)
3g.4788067A>GCA351640691ITPR1c.6747A>G (n.6747A>G)
c.6712A>G (p.Ser2238Gly)
c.6691A>G (p.Ser2231Gly)
c.6592A>G (p.Ser2198Gly)
c.6547A>G (p.Ser2183Gly)
n.628A>G
c.997-18036A>G (n.997-18036A>G)
c.2635A>G
n.4240A>G
c.3071A>G
c.4498A>G (p.Ser1500Gly)
c.3644A>G
c.6709A>G (p.Ser2237Gly)
c.6664A>G (p.Ser2222Gly)
c.447-58072A>G
c.4038A>G
n.570A>G
c.6736A>G (p.Ser2246Gly)
n.1784A>G
n.298A>G
n.4221A>G
c.6694A>G (p.Ser2232Gly)
c.6667A>G (p.Ser2223Gly)
c.6619A>G (p.Ser2207Gly)
c.6670A>G (p.Ser2224Gly)
c.6739A>G (p.Ser2247Gly)
c.6706A>G (p.Ser2236Gly)
c.6703A>G (p.Ser2235Gly)
c.6628A>G (p.Ser2210Gly)
 gnomAD v4
3g.4788067A>TCA351640692ITPR1c.6747A>T (n.6747A>T)
c.6712A>T (p.Ser2238Cys)
c.6691A>T (p.Ser2231Cys)
c.6592A>T (p.Ser2198Cys)
c.6547A>T (p.Ser2183Cys)
n.628A>T
c.997-18036A>T (n.997-18036A>T)
c.2635A>T
n.4240A>T
c.3071A>T
c.4498A>T (p.Ser1500Cys)
c.3644A>T
c.6709A>T (p.Ser2237Cys)
c.6664A>T (p.Ser2222Cys)
c.447-58072A>T
c.4038A>T
n.570A>T
c.6736A>T (p.Ser2246Cys)
n.1784A>T
n.298A>T
n.4221A>T
c.6694A>T (p.Ser2232Cys)
c.6667A>T (p.Ser2223Cys)
c.6619A>T (p.Ser2207Cys)
c.6670A>T (p.Ser2224Cys)
c.6739A>T (p.Ser2247Cys)
c.6706A>T (p.Ser2236Cys)
c.6703A>T (p.Ser2235Cys)
c.6628A>T (p.Ser2210Cys)
3g.4788068G>ACA351640693ITPR1c.6748G>A (n.6748G>A)
c.6713G>A (p.Ser2238Asn)
c.6692G>A (p.Ser2231Asn)
c.6593G>A (p.Ser2198Asn)
c.6548G>A (p.Ser2183Asn)
n.629G>A
c.997-18035G>A (n.997-18035G>A)
c.2636G>A
n.4241G>A
c.3072G>A
c.4499G>A (p.Ser1500Asn)
c.3645G>A
c.6710G>A (p.Ser2237Asn)
c.6665G>A (p.Ser2222Asn)
c.447-58071G>A
c.4039G>A
n.571G>A
c.6737G>A (p.Ser2246Asn)
n.1785G>A
n.299G>A
n.4222G>A
c.6695G>A (p.Ser2232Asn)
c.6668G>A (p.Ser2223Asn)
c.6620G>A (p.Ser2207Asn)
c.6671G>A (p.Ser2224Asn)
c.6740G>A (p.Ser2247Asn)
c.6707G>A (p.Ser2236Asn)
c.6704G>A (p.Ser2235Asn)
c.6629G>A (p.Ser2210Asn)
 gnomAD v4
3g.4788068G>CCA351640694ITPR1c.6748G>C (n.6748G>C)
c.6713G>C (p.Ser2238Thr)
c.6692G>C (p.Ser2231Thr)
c.6593G>C (p.Ser2198Thr)
c.6548G>C (p.Ser2183Thr)
n.629G>C
c.997-18035G>C (n.997-18035G>C)
c.2636G>C
n.4241G>C
c.3072G>C
c.4499G>C (p.Ser1500Thr)
c.3645G>C
c.6710G>C (p.Ser2237Thr)
c.6665G>C (p.Ser2222Thr)
c.447-58071G>C
c.4039G>C
n.571G>C
c.6737G>C (p.Ser2246Thr)
n.1785G>C
n.299G>C
n.4222G>C
c.6695G>C (p.Ser2232Thr)
c.6668G>C (p.Ser2223Thr)
c.6620G>C (p.Ser2207Thr)
c.6671G>C (p.Ser2224Thr)
c.6740G>C (p.Ser2247Thr)
c.6707G>C (p.Ser2236Thr)
c.6704G>C (p.Ser2235Thr)
c.6629G>C (p.Ser2210Thr)
3g.4788068G>TCA351640695ITPR1c.6748G>T (n.6748G>T)
c.6713G>T (p.Ser2238Ile)
c.6692G>T (p.Ser2231Ile)
c.6593G>T (p.Ser2198Ile)
c.6548G>T (p.Ser2183Ile)
n.629G>T
c.997-18035G>T (n.997-18035G>T)
c.2636G>T
n.4241G>T
c.3072G>T
c.4499G>T (p.Ser1500Ile)
c.3645G>T
c.6710G>T (p.Ser2237Ile)
c.6665G>T (p.Ser2222Ile)
c.447-58071G>T
c.4039G>T
n.571G>T
c.6737G>T (p.Ser2246Ile)
n.1785G>T
n.299G>T
n.4222G>T
c.6695G>T (p.Ser2232Ile)
c.6668G>T (p.Ser2223Ile)
c.6620G>T (p.Ser2207Ile)
c.6671G>T (p.Ser2224Ile)
c.6740G>T (p.Ser2247Ile)
c.6707G>T (p.Ser2236Ile)
c.6704G>T (p.Ser2235Ile)
c.6629G>T (p.Ser2210Ile)
3g.4788069C>ACA351640696ITPR1c.6749C>A (n.6749C>A)
c.6714C>A (p.Ser2238Arg)
c.6693C>A (p.Ser2231Arg)
c.6594C>A (p.Ser2198Arg)
c.6549C>A (p.Ser2183Arg)
n.630C>A
c.997-18034C>A (n.997-18034C>A)
c.2637C>A
n.4242C>A
c.3073C>A
c.4500C>A (p.Ser1500Arg)
c.3646C>A
c.6711C>A (p.Ser2237Arg)
c.6666C>A (p.Ser2222Arg)
c.447-58070C>A
c.4040C>A
n.572C>A
c.6738C>A (p.Ser2246Arg)
n.1786C>A
n.300C>A
n.4223C>A
c.6696C>A (p.Ser2232Arg)
c.6669C>A (p.Ser2223Arg)
c.6621C>A (p.Ser2207Arg)
c.6672C>A (p.Ser2224Arg)
c.6741C>A (p.Ser2247Arg)
c.6708C>A (p.Ser2236Arg)
c.6705C>A (p.Ser2235Arg)
c.6630C>A (p.Ser2210Arg)
3g.4788069C>GCA351640697ITPR1c.6749C>G (n.6749C>G)
c.6714C>G (p.Ser2238Arg)
c.6693C>G (p.Ser2231Arg)
c.6594C>G (p.Ser2198Arg)
c.6549C>G (p.Ser2183Arg)
n.630C>G
c.997-18034C>G (n.997-18034C>G)
c.2637C>G
n.4242C>G
c.3073C>G
c.4500C>G (p.Ser1500Arg)
c.3646C>G
c.6711C>G (p.Ser2237Arg)
c.6666C>G (p.Ser2222Arg)
c.447-58070C>G
c.4040C>G
n.572C>G
c.6738C>G (p.Ser2246Arg)
n.1786C>G
n.300C>G
n.4223C>G
c.6696C>G (p.Ser2232Arg)
c.6669C>G (p.Ser2223Arg)
c.6621C>G (p.Ser2207Arg)
c.6672C>G (p.Ser2224Arg)
c.6741C>G (p.Ser2247Arg)
c.6708C>G (p.Ser2236Arg)
c.6705C>G (p.Ser2235Arg)
c.6630C>G (p.Ser2210Arg)
3g.4788069C>TCA432323174ITPR1c.6749C>T (n.6749C>T)
c.6714C>T (p.Ser2238=)
c.6693C>T (p.Ser2231=)
c.6594C>T (p.Ser2198=)
c.6549C>T (p.Ser2183=)
n.630C>T
c.997-18034C>T (n.997-18034C>T)
c.2637C>T
n.4242C>T
c.3073C>T
c.4500C>T (p.Ser1500=)
c.3646C>T
c.6711C>T (p.Ser2237=)
c.6666C>T (p.Ser2222=)
c.447-58070C>T
c.4040C>T
n.572C>T
c.6738C>T (p.Ser2246=)
n.1786C>T
n.300C>T
n.4223C>T
c.6696C>T (p.Ser2232=)
c.6669C>T (p.Ser2223=)
c.6621C>T (p.Ser2207=)
c.6672C>T (p.Ser2224=)
c.6741C>T (p.Ser2247=)
c.6708C>T (p.Ser2236=)
c.6705C>T (p.Ser2235=)
c.6630C>T (p.Ser2210=)
3g.4788070A>CCA351640700ITPR1c.6750A>C (n.6750A>C)
c.6715A>C (p.Lys2239Gln)
c.6694A>C (p.Lys2232Gln)
c.6595A>C (p.Lys2199Gln)
c.6550A>C (p.Lys2184Gln)
n.631A>C
c.997-18033A>C (n.997-18033A>C)
c.2638A>C
n.4243A>C
c.3074A>C
c.4501A>C (p.Lys1501Gln)
c.3647A>C
c.6712A>C (p.Lys2238Gln)
c.6667A>C (p.Lys2223Gln)
c.447-58069A>C
c.4041A>C
n.573A>C
c.6739A>C (p.Lys2247Gln)
n.1787A>C
n.301A>C
n.4224A>C
c.6697A>C (p.Lys2233Gln)
c.6670A>C (p.Lys2224Gln)
c.6622A>C (p.Lys2208Gln)
c.6673A>C (p.Lys2225Gln)
c.6742A>C (p.Lys2248Gln)
c.6709A>C (p.Lys2237Gln)
c.6706A>C (p.Lys2236Gln)
c.6631A>C (p.Lys2211Gln)
3g.4788070A>GCA351640699ITPR1c.6750A>G (n.6750A>G)
c.6715A>G (p.Lys2239Glu)
c.6694A>G (p.Lys2232Glu)
c.6595A>G (p.Lys2199Glu)
c.6550A>G (p.Lys2184Glu)
n.631A>G
c.997-18033A>G (n.997-18033A>G)
c.2638A>G
n.4243A>G
c.3074A>G
c.4501A>G (p.Lys1501Glu)
c.3647A>G
c.6712A>G (p.Lys2238Glu)
c.6667A>G (p.Lys2223Glu)
c.447-58069A>G
c.4041A>G
n.573A>G
c.6739A>G (p.Lys2247Glu)
n.1787A>G
n.301A>G
n.4224A>G
c.6697A>G (p.Lys2233Glu)
c.6670A>G (p.Lys2224Glu)
c.6622A>G (p.Lys2208Glu)
c.6673A>G (p.Lys2225Glu)
c.6742A>G (p.Lys2248Glu)
c.6709A>G (p.Lys2237Glu)
c.6706A>G (p.Lys2236Glu)
c.6631A>G (p.Lys2211Glu)
3g.4788070A>TCA351640698ITPR1c.6750A>T (n.6750A>T)
c.6715A>T (p.Lys2239Ter)
c.6694A>T (p.Lys2232Ter)
c.6595A>T (p.Lys2199Ter)
c.6550A>T (p.Lys2184Ter)
n.631A>T
c.997-18033A>T (n.997-18033A>T)
c.2638A>T
n.4243A>T
c.3074A>T
c.4501A>T (p.Lys1501Ter)
c.3647A>T
c.6712A>T (p.Lys2238Ter)
c.6667A>T (p.Lys2223Ter)
c.447-58069A>T
c.4041A>T
n.573A>T
c.6739A>T (p.Lys2247Ter)
n.1787A>T
n.301A>T
n.4224A>T
c.6697A>T (p.Lys2233Ter)
c.6670A>T (p.Lys2224Ter)
c.6622A>T (p.Lys2208Ter)
c.6673A>T (p.Lys2225Ter)
c.6742A>T (p.Lys2248Ter)
c.6709A>T (p.Lys2237Ter)
c.6706A>T (p.Lys2236Ter)
c.6631A>T (p.Lys2211Ter)
3g.4788071A>CCA351640701ITPR1c.6751A>C (n.6751A>C)
c.6716A>C (p.Lys2239Thr)
c.6695A>C (p.Lys2232Thr)
c.6596A>C (p.Lys2199Thr)
c.6551A>C (p.Lys2184Thr)
n.632A>C
c.997-18032A>C (n.997-18032A>C)
c.2639A>C
n.4244A>C
c.3075A>C
c.4502A>C (p.Lys1501Thr)
c.3648A>C
c.6713A>C (p.Lys2238Thr)
c.6668A>C (p.Lys2223Thr)
c.447-58068A>C
c.4042A>C
n.574A>C
c.6740A>C (p.Lys2247Thr)
n.1788A>C
n.302A>C
n.4225A>C
c.6698A>C (p.Lys2233Thr)
c.6671A>C (p.Lys2224Thr)
c.6623A>C (p.Lys2208Thr)
c.6674A>C (p.Lys2225Thr)
c.6743A>C (p.Lys2248Thr)
c.6710A>C (p.Lys2237Thr)
c.6707A>C (p.Lys2236Thr)
c.6632A>C (p.Lys2211Thr)
3g.4788071A>GCA351640702ITPR1c.6751A>G (n.6751A>G)
c.6716A>G (p.Lys2239Arg)
c.6695A>G (p.Lys2232Arg)
c.6596A>G (p.Lys2199Arg)
c.6551A>G (p.Lys2184Arg)
n.632A>G
c.997-18032A>G (n.997-18032A>G)
c.2639A>G
n.4244A>G
c.3075A>G
c.4502A>G (p.Lys1501Arg)
c.3648A>G
c.6713A>G (p.Lys2238Arg)
c.6668A>G (p.Lys2223Arg)
c.447-58068A>G
c.4042A>G
n.574A>G
c.6740A>G (p.Lys2247Arg)
n.1788A>G
n.302A>G
n.4225A>G
c.6698A>G (p.Lys2233Arg)
c.6671A>G (p.Lys2224Arg)
c.6623A>G (p.Lys2208Arg)
c.6674A>G (p.Lys2225Arg)
c.6743A>G (p.Lys2248Arg)
c.6710A>G (p.Lys2237Arg)
c.6707A>G (p.Lys2236Arg)
c.6632A>G (p.Lys2211Arg)
3g.4788071A>TCA351640703ITPR1c.6751A>T (n.6751A>T)
c.6716A>T (p.Lys2239Ile)
c.6695A>T (p.Lys2232Ile)
c.6596A>T (p.Lys2199Ile)
c.6551A>T (p.Lys2184Ile)
n.632A>T
c.997-18032A>T (n.997-18032A>T)
c.2639A>T
n.4244A>T
c.3075A>T
c.4502A>T (p.Lys1501Ile)
c.3648A>T
c.6713A>T (p.Lys2238Ile)
c.6668A>T (p.Lys2223Ile)
c.447-58068A>T
c.4042A>T
n.574A>T
c.6740A>T (p.Lys2247Ile)
n.1788A>T
n.302A>T
n.4225A>T
c.6698A>T (p.Lys2233Ile)
c.6671A>T (p.Lys2224Ile)
c.6623A>T (p.Lys2208Ile)
c.6674A>T (p.Lys2225Ile)
c.6743A>T (p.Lys2248Ile)
c.6710A>T (p.Lys2237Ile)
c.6707A>T (p.Lys2236Ile)
c.6632A>T (p.Lys2211Ile)
3g.4788072A=CA1342337449ITPR1c.6752A= (n.6752A=)
c.6717A= (p.Lys2239=)
c.6696A= (p.Lys2232=)
c.6597A= (p.Lys2199=)
c.6552A= (p.Lys2184=)
n.633A=
c.997-18031A= (n.997-18031A=)
c.2640A=
n.4245A=
c.3076A=
c.4503A= (p.Lys1501=)
c.3649A=
c.6714A= (p.Lys2238=)
c.6669A= (p.Lys2223=)
c.447-58067A=
c.4043A=
n.575A=
c.6741A= (p.Lys2247=)
n.1789A=
n.303A=
n.4226A=
c.6699A= (p.Lys2233=)
c.6672A= (p.Lys2224=)
c.6624A= (p.Lys2208=)
c.6675A= (p.Lys2225=)
c.6744A= (p.Lys2248=)
c.6711A= (p.Lys2237=)
c.6708A= (p.Lys2236=)
c.6633A= (p.Lys2211=)
3g.4788072A>CCA351640704ITPR1c.6752A>C (n.6752A>C)
c.6717A>C (p.Lys2239Asn)
c.6696A>C (p.Lys2232Asn)
c.6597A>C (p.Lys2199Asn)
c.6552A>C (p.Lys2184Asn)
n.633A>C
c.997-18031A>C (n.997-18031A>C)
c.2640A>C
n.4245A>C
c.3076A>C
c.4503A>C (p.Lys1501Asn)
c.3649A>C
c.6714A>C (p.Lys2238Asn)
c.6669A>C (p.Lys2223Asn)
c.447-58067A>C
c.4043A>C
n.575A>C
c.6741A>C (p.Lys2247Asn)
n.1789A>C
n.303A>C
n.4226A>C
c.6699A>C (p.Lys2233Asn)
c.6672A>C (p.Lys2224Asn)
c.6624A>C (p.Lys2208Asn)
c.6675A>C (p.Lys2225Asn)
c.6744A>C (p.Lys2248Asn)
c.6711A>C (p.Lys2237Asn)
c.6708A>C (p.Lys2236Asn)
c.6633A>C (p.Lys2211Asn)
3g.4788072A>GCA2232660ITPR1c.6752A>G (n.6752A>G)
c.6717A>G (p.Lys2239=)
c.6696A>G (p.Lys2232=)
c.6597A>G (p.Lys2199=)
c.6552A>G (p.Lys2184=)
n.633A>G
c.997-18031A>G (n.997-18031A>G)
c.2640A>G
n.4245A>G
c.3076A>G
c.4503A>G (p.Lys1501=)
c.3649A>G
c.6714A>G (p.Lys2238=)
c.6669A>G (p.Lys2223=)
c.447-58067A>G
c.4043A>G
n.575A>G
c.6741A>G (p.Lys2247=)
n.1789A>G
n.303A>G
n.4226A>G
c.6699A>G (p.Lys2233=)
c.6672A>G (p.Lys2224=)
c.6624A>G (p.Lys2208=)
c.6675A>G (p.Lys2225=)
c.6744A>G (p.Lys2248=)
c.6711A>G (p.Lys2237=)
c.6708A>G (p.Lys2236=)
c.6633A>G (p.Lys2211=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788072A>TCA351640705ITPR1c.6752A>T (n.6752A>T)
c.6717A>T (p.Lys2239Asn)
c.6696A>T (p.Lys2232Asn)
c.6597A>T (p.Lys2199Asn)
c.6552A>T (p.Lys2184Asn)
n.633A>T
c.997-18031A>T (n.997-18031A>T)
c.2640A>T
n.4245A>T
c.3076A>T
c.4503A>T (p.Lys1501Asn)
c.3649A>T
c.6714A>T (p.Lys2238Asn)
c.6669A>T (p.Lys2223Asn)
c.447-58067A>T
c.4043A>T
n.575A>T
c.6741A>T (p.Lys2247Asn)
n.1789A>T
n.303A>T
n.4226A>T
c.6699A>T (p.Lys2233Asn)
c.6672A>T (p.Lys2224Asn)
c.6624A>T (p.Lys2208Asn)
c.6675A>T (p.Lys2225Asn)
c.6744A>T (p.Lys2248Asn)
c.6711A>T (p.Lys2237Asn)
c.6708A>T (p.Lys2236Asn)
c.6633A>T (p.Lys2211Asn)
3g.4788073A>CCA351640706ITPR1c.6753A>C (n.6753A>C)
c.6718A>C (p.Ile2240Leu)
c.6697A>C (p.Ile2233Leu)
c.6598A>C (p.Ile2200Leu)
c.6553A>C (p.Ile2185Leu)
n.634A>C
c.997-18030A>C (n.997-18030A>C)
c.2641A>C
n.4246A>C
c.3077A>C
c.4504A>C (p.Ile1502Leu)
c.3650A>C
c.6715A>C (p.Ile2239Leu)
c.6670A>C (p.Ile2224Leu)
c.447-58066A>C
c.4044A>C
n.576A>C
c.6742A>C (p.Ile2248Leu)
n.1790A>C
n.304A>C
n.4227A>C
c.6700A>C (p.Ile2234Leu)
c.6673A>C (p.Ile2225Leu)
c.6625A>C (p.Ile2209Leu)
c.6676A>C (p.Ile2226Leu)
c.6745A>C (p.Ile2249Leu)
c.6712A>C (p.Ile2238Leu)
c.6709A>C (p.Ile2237Leu)
c.6634A>C (p.Ile2212Leu)
3g.4788073A>GCA351640707ITPR1c.6753A>G (n.6753A>G)
c.6718A>G (p.Ile2240Val)
c.6697A>G (p.Ile2233Val)
c.6598A>G (p.Ile2200Val)
c.6553A>G (p.Ile2185Val)
n.634A>G
c.997-18030A>G (n.997-18030A>G)
c.2641A>G
n.4246A>G
c.3077A>G
c.4504A>G (p.Ile1502Val)
c.3650A>G
c.6715A>G (p.Ile2239Val)
c.6670A>G (p.Ile2224Val)
c.447-58066A>G
c.4044A>G
n.576A>G
c.6742A>G (p.Ile2248Val)
n.1790A>G
n.304A>G
n.4227A>G
c.6700A>G (p.Ile2234Val)
c.6673A>G (p.Ile2225Val)
c.6625A>G (p.Ile2209Val)
c.6676A>G (p.Ile2226Val)
c.6745A>G (p.Ile2249Val)
c.6712A>G (p.Ile2238Val)
c.6709A>G (p.Ile2237Val)
c.6634A>G (p.Ile2212Val)
3g.4788073A>TCA351640708ITPR1c.6753A>T (n.6753A>T)
c.6718A>T (p.Ile2240Phe)
c.6697A>T (p.Ile2233Phe)
c.6598A>T (p.Ile2200Phe)
c.6553A>T (p.Ile2185Phe)
n.634A>T
c.997-18030A>T (n.997-18030A>T)
c.2641A>T
n.4246A>T
c.3077A>T
c.4504A>T (p.Ile1502Phe)
c.3650A>T
c.6715A>T (p.Ile2239Phe)
c.6670A>T (p.Ile2224Phe)
c.447-58066A>T
c.4044A>T
n.576A>T
c.6742A>T (p.Ile2248Phe)
n.1790A>T
n.304A>T
n.4227A>T
c.6700A>T (p.Ile2234Phe)
c.6673A>T (p.Ile2225Phe)
c.6625A>T (p.Ile2209Phe)
c.6676A>T (p.Ile2226Phe)
c.6745A>T (p.Ile2249Phe)
c.6712A>T (p.Ile2238Phe)
c.6709A>T (p.Ile2237Phe)
c.6634A>T (p.Ile2212Phe)
3g.4788074T>ACA351640709ITPR1c.6754T>A (n.6754T>A)
c.6719T>A (p.Ile2240Asn)
c.6698T>A (p.Ile2233Asn)
c.6599T>A (p.Ile2200Asn)
c.6554T>A (p.Ile2185Asn)
n.635T>A
c.997-18029T>A (n.997-18029T>A)
c.2642T>A
n.4247T>A
c.3078T>A
c.4505T>A (p.Ile1502Asn)
c.3651T>A
c.6716T>A (p.Ile2239Asn)
c.6671T>A (p.Ile2224Asn)
c.447-58065T>A
c.4045T>A
n.577T>A
c.6743T>A (p.Ile2248Asn)
n.1791T>A
n.305T>A
n.4228T>A
c.6701T>A (p.Ile2234Asn)
c.6674T>A (p.Ile2225Asn)
c.6626T>A (p.Ile2209Asn)
c.6677T>A (p.Ile2226Asn)
c.6746T>A (p.Ile2249Asn)
c.6713T>A (p.Ile2238Asn)
c.6710T>A (p.Ile2237Asn)
c.6635T>A (p.Ile2212Asn)
3g.4788074T>CCA351640710ITPR1c.6754T>C (n.6754T>C)
c.6719T>C (p.Ile2240Thr)
c.6698T>C (p.Ile2233Thr)
c.6599T>C (p.Ile2200Thr)
c.6554T>C (p.Ile2185Thr)
n.635T>C
c.997-18029T>C (n.997-18029T>C)
c.2642T>C
n.4247T>C
c.3078T>C
c.4505T>C (p.Ile1502Thr)
c.3651T>C
c.6716T>C (p.Ile2239Thr)
c.6671T>C (p.Ile2224Thr)
c.447-58065T>C
c.4045T>C
n.577T>C
c.6743T>C (p.Ile2248Thr)
n.1791T>C
n.305T>C
n.4228T>C
c.6701T>C (p.Ile2234Thr)
c.6674T>C (p.Ile2225Thr)
c.6626T>C (p.Ile2209Thr)
c.6677T>C (p.Ile2226Thr)
c.6746T>C (p.Ile2249Thr)
c.6713T>C (p.Ile2238Thr)
c.6710T>C (p.Ile2237Thr)
c.6635T>C (p.Ile2212Thr)
 gnomAD v4
3g.4788074T>GCA351640711ITPR1c.6754T>G (n.6754T>G)
c.6719T>G (p.Ile2240Ser)
c.6698T>G (p.Ile2233Ser)
c.6599T>G (p.Ile2200Ser)
c.6554T>G (p.Ile2185Ser)
n.635T>G
c.997-18029T>G (n.997-18029T>G)
c.2642T>G
n.4247T>G
c.3078T>G
c.4505T>G (p.Ile1502Ser)
c.3651T>G
c.6716T>G (p.Ile2239Ser)
c.6671T>G (p.Ile2224Ser)
c.447-58065T>G
c.4045T>G
n.577T>G
c.6743T>G (p.Ile2248Ser)
n.1791T>G
n.305T>G
n.4228T>G
c.6701T>G (p.Ile2234Ser)
c.6674T>G (p.Ile2225Ser)
c.6626T>G (p.Ile2209Ser)
c.6677T>G (p.Ile2226Ser)
c.6746T>G (p.Ile2249Ser)
c.6713T>G (p.Ile2238Ser)
c.6710T>G (p.Ile2237Ser)
c.6635T>G (p.Ile2212Ser)
3g.4788075C>ACA432323178ITPR1c.6755C>A (n.6755C>A)
c.6720C>A (p.Ile2240=)
c.6699C>A (p.Ile2233=)
c.6600C>A (p.Ile2200=)
c.6555C>A (p.Ile2185=)
n.636C>A
c.997-18028C>A (n.997-18028C>A)
c.2643C>A
n.4248C>A
c.3079C>A
c.4506C>A (p.Ile1502=)
c.3652C>A
c.6717C>A (p.Ile2239=)
c.6672C>A (p.Ile2224=)
c.447-58064C>A
c.4046C>A
n.578C>A
c.6744C>A (p.Ile2248=)
n.1792C>A
n.306C>A
n.4229C>A
c.6702C>A (p.Ile2234=)
c.6675C>A (p.Ile2225=)
c.6627C>A (p.Ile2209=)
c.6678C>A (p.Ile2226=)
c.6747C>A (p.Ile2249=)
c.6714C>A (p.Ile2238=)
c.6711C>A (p.Ile2237=)
c.6636C>A (p.Ile2212=)
3g.4788075C>GCA351640712ITPR1c.6755C>G (n.6755C>G)
c.6720C>G (p.Ile2240Met)
c.6699C>G (p.Ile2233Met)
c.6600C>G (p.Ile2200Met)
c.6555C>G (p.Ile2185Met)
n.636C>G
c.997-18028C>G (n.997-18028C>G)
c.2643C>G
n.4248C>G
c.3079C>G
c.4506C>G (p.Ile1502Met)
c.3652C>G
c.6717C>G (p.Ile2239Met)
c.6672C>G (p.Ile2224Met)
c.447-58064C>G
c.4046C>G
n.578C>G
c.6744C>G (p.Ile2248Met)
n.1792C>G
n.306C>G
n.4229C>G
c.6702C>G (p.Ile2234Met)
c.6675C>G (p.Ile2225Met)
c.6627C>G (p.Ile2209Met)
c.6678C>G (p.Ile2226Met)
c.6747C>G (p.Ile2249Met)
c.6714C>G (p.Ile2238Met)
c.6711C>G (p.Ile2237Met)
c.6636C>G (p.Ile2212Met)
3g.4788075C>TCA432323179ITPR1c.6755C>T (n.6755C>T)
c.6720C>T (p.Ile2240=)
c.6699C>T (p.Ile2233=)
c.6600C>T (p.Ile2200=)
c.6555C>T (p.Ile2185=)
n.636C>T
c.997-18028C>T (n.997-18028C>T)
c.2643C>T
n.4248C>T
c.3079C>T
c.4506C>T (p.Ile1502=)
c.3652C>T
c.6717C>T (p.Ile2239=)
c.6672C>T (p.Ile2224=)
c.447-58064C>T
c.4046C>T
n.578C>T
c.6744C>T (p.Ile2248=)
n.1792C>T
n.306C>T
n.4229C>T
c.6702C>T (p.Ile2234=)
c.6675C>T (p.Ile2225=)
c.6627C>T (p.Ile2209=)
c.6678C>T (p.Ile2226=)
c.6747C>T (p.Ile2249=)
c.6714C>T (p.Ile2238=)
c.6711C>T (p.Ile2237=)
c.6636C>T (p.Ile2212=)
3g.4788076A=CA1342337450ITPR1c.6756A= (n.6756A=)
c.6721A= (p.Asn2241=)
c.6700A= (p.Asn2234=)
c.6601A= (p.Asn2201=)
c.6556A= (p.Asn2186=)
n.637A=
c.997-18027A= (n.997-18027A=)
c.2644A=
n.4249A=
c.3080A=
c.4507A= (p.Asn1503=)
c.3653A=
c.6718A= (p.Asn2240=)
c.6673A= (p.Asn2225=)
c.447-58063A=
c.4047A=
n.579A=
c.6745A= (p.Asn2249=)
n.1793A=
n.307A=
n.4230A=
c.6703A= (p.Asn2235=)
c.6676A= (p.Asn2226=)
c.6628A= (p.Asn2210=)
c.6679A= (p.Asn2227=)
c.6748A= (p.Asn2250=)
c.6715A= (p.Asn2239=)
c.6712A= (p.Asn2238=)
c.6637A= (p.Asn2213=)
3g.4788076A>CCA351640713ITPR1c.6756A>C (n.6756A>C)
c.6721A>C (p.Asn2241His)
c.6700A>C (p.Asn2234His)
c.6601A>C (p.Asn2201His)
c.6556A>C (p.Asn2186His)
n.637A>C
c.997-18027A>C (n.997-18027A>C)
c.2644A>C
n.4249A>C
c.3080A>C
c.4507A>C (p.Asn1503His)
c.3653A>C
c.6718A>C (p.Asn2240His)
c.6673A>C (p.Asn2225His)
c.447-58063A>C
c.4047A>C
n.579A>C
c.6745A>C (p.Asn2249His)
n.1793A>C
n.307A>C
n.4230A>C
c.6703A>C (p.Asn2235His)
c.6676A>C (p.Asn2226His)
c.6628A>C (p.Asn2210His)
c.6679A>C (p.Asn2227His)
c.6748A>C (p.Asn2250His)
c.6715A>C (p.Asn2239His)
c.6712A>C (p.Asn2238His)
c.6637A>C (p.Asn2213His)
 dbSNP gnomAD v3 gnomAD v4
3g.4788076A>GCA351640715ITPR1c.6756A>G (n.6756A>G)
c.6721A>G (p.Asn2241Asp)
c.6700A>G (p.Asn2234Asp)
c.6601A>G (p.Asn2201Asp)
c.6556A>G (p.Asn2186Asp)
n.637A>G
c.997-18027A>G (n.997-18027A>G)
c.2644A>G
n.4249A>G
c.3080A>G
c.4507A>G (p.Asn1503Asp)
c.3653A>G
c.6718A>G (p.Asn2240Asp)
c.6673A>G (p.Asn2225Asp)
c.447-58063A>G
c.4047A>G
n.579A>G
c.6745A>G (p.Asn2249Asp)
n.1793A>G
n.307A>G
n.4230A>G
c.6703A>G (p.Asn2235Asp)
c.6676A>G (p.Asn2226Asp)
c.6628A>G (p.Asn2210Asp)
c.6679A>G (p.Asn2227Asp)
c.6748A>G (p.Asn2250Asp)
c.6715A>G (p.Asn2239Asp)
c.6712A>G (p.Asn2238Asp)
c.6637A>G (p.Asn2213Asp)
3g.4788076A>TCA351640714ITPR1c.6756A>T (n.6756A>T)
c.6721A>T (p.Asn2241Tyr)
c.6700A>T (p.Asn2234Tyr)
c.6601A>T (p.Asn2201Tyr)
c.6556A>T (p.Asn2186Tyr)
n.637A>T
c.997-18027A>T (n.997-18027A>T)
c.2644A>T
n.4249A>T
c.3080A>T
c.4507A>T (p.Asn1503Tyr)
c.3653A>T
c.6718A>T (p.Asn2240Tyr)
c.6673A>T (p.Asn2225Tyr)
c.447-58063A>T
c.4047A>T
n.579A>T
c.6745A>T (p.Asn2249Tyr)
n.1793A>T
n.307A>T
n.4230A>T
c.6703A>T (p.Asn2235Tyr)
c.6676A>T (p.Asn2226Tyr)
c.6628A>T (p.Asn2210Tyr)
c.6679A>T (p.Asn2227Tyr)
c.6748A>T (p.Asn2250Tyr)
c.6715A>T (p.Asn2239Tyr)
c.6712A>T (p.Asn2238Tyr)
c.6637A>T (p.Asn2213Tyr)
3g.4788077A=CA1342337451ITPR1c.6757A= (n.6757A=)
c.6722A= (p.Asn2241=)
c.6701A= (p.Asn2234=)
c.6602A= (p.Asn2201=)
c.6557A= (p.Asn2186=)
n.638A=
c.997-18026A= (n.997-18026A=)
c.2645A=
n.4250A=
c.3081A=
c.4508A= (p.Asn1503=)
c.3654A=
c.6719A= (p.Asn2240=)
c.6674A= (p.Asn2225=)
c.447-58062A=
c.4048A=
n.580A=
c.6746A= (p.Asn2249=)
n.1794A=
n.308A=
n.4231A=
c.6704A= (p.Asn2235=)
c.6677A= (p.Asn2226=)
c.6629A= (p.Asn2210=)
c.6680A= (p.Asn2227=)
c.6749A= (p.Asn2250=)
c.6716A= (p.Asn2239=)
c.6713A= (p.Asn2238=)
c.6638A= (p.Asn2213=)
3g.4788077A>CCA351640716ITPR1c.6757A>C (n.6757A>C)
c.6722A>C (p.Asn2241Thr)
c.6701A>C (p.Asn2234Thr)
c.6602A>C (p.Asn2201Thr)
c.6557A>C (p.Asn2186Thr)
n.638A>C
c.997-18026A>C (n.997-18026A>C)
c.2645A>C
n.4250A>C
c.3081A>C
c.4508A>C (p.Asn1503Thr)
c.3654A>C
c.6719A>C (p.Asn2240Thr)
c.6674A>C (p.Asn2225Thr)
c.447-58062A>C
c.4048A>C
n.580A>C
c.6746A>C (p.Asn2249Thr)
n.1794A>C
n.308A>C
n.4231A>C
c.6704A>C (p.Asn2235Thr)
c.6677A>C (p.Asn2226Thr)
c.6629A>C (p.Asn2210Thr)
c.6680A>C (p.Asn2227Thr)
c.6749A>C (p.Asn2250Thr)
c.6716A>C (p.Asn2239Thr)
c.6713A>C (p.Asn2238Thr)
c.6638A>C (p.Asn2213Thr)
3g.4788077A>GCA68828015ITPR1c.6757A>G (n.6757A>G)
c.6722A>G (p.Asn2241Ser)
c.6701A>G (p.Asn2234Ser)
c.6602A>G (p.Asn2201Ser)
c.6557A>G (p.Asn2186Ser)
n.638A>G
c.997-18026A>G (n.997-18026A>G)
c.2645A>G
n.4250A>G
c.3081A>G
c.4508A>G (p.Asn1503Ser)
c.3654A>G
c.6719A>G (p.Asn2240Ser)
c.6674A>G (p.Asn2225Ser)
c.447-58062A>G
c.4048A>G
n.580A>G
c.6746A>G (p.Asn2249Ser)
n.1794A>G
n.308A>G
n.4231A>G
c.6704A>G (p.Asn2235Ser)
c.6677A>G (p.Asn2226Ser)
c.6629A>G (p.Asn2210Ser)
c.6680A>G (p.Asn2227Ser)
c.6749A>G (p.Asn2250Ser)
c.6716A>G (p.Asn2239Ser)
c.6713A>G (p.Asn2238Ser)
c.6638A>G (p.Asn2213Ser)
 ClinVar dbSNP gnomAD v4
3g.4788077A>TCA351640717ITPR1c.6757A>T (n.6757A>T)
c.6722A>T (p.Asn2241Ile)
c.6701A>T (p.Asn2234Ile)
c.6602A>T (p.Asn2201Ile)
c.6557A>T (p.Asn2186Ile)
n.638A>T
c.997-18026A>T (n.997-18026A>T)
c.2645A>T
n.4250A>T
c.3081A>T
c.4508A>T (p.Asn1503Ile)
c.3654A>T
c.6719A>T (p.Asn2240Ile)
c.6674A>T (p.Asn2225Ile)
c.447-58062A>T
c.4048A>T
n.580A>T
c.6746A>T (p.Asn2249Ile)
n.1794A>T
n.308A>T
n.4231A>T
c.6704A>T (p.Asn2235Ile)
c.6677A>T (p.Asn2226Ile)
c.6629A>T (p.Asn2210Ile)
c.6680A>T (p.Asn2227Ile)
c.6749A>T (p.Asn2250Ile)
c.6716A>T (p.Asn2239Ile)
c.6713A>T (p.Asn2238Ile)
c.6638A>T (p.Asn2213Ile)
3g.4788077_4788078insAACCAAACACACCCAACACACA2755057563ITPR1c.6757_6758insAACCAAACACACCCAACACA (n.6757_6758insAACCAAACACACCCAACACA)
c.6722_6723insAACCAAACACACCCAACACA (p.Asn2241LysfsTer21)
c.6701_6702insAACCAAACACACCCAACACA (p.Asn2234LysfsTer21)
c.6602_6603insAACCAAACACACCCAACACA (p.Asn2201LysfsTer21)
c.6557_6558insAACCAAACACACCCAACACA (p.Asn2186LysfsTer21)
n.638_639insAACCAAACACACCCAACACA
c.997-18026_997-18025insAACCAAACACACCCAACACA (n.997-18026_997-18025insAACCAAACACACCCAACACA)
c.2645_2646insAACCAAACACACCCAACACA
n.4250_4251insAACCAAACACACCCAACACA
c.3081_3082insAACCAAACACACCCAACACA
c.4508_4509insAACCAAACACACCCAACACA (p.Asn1503LysfsTer21)
c.3654_3655insAACCAAACACACCCAACACA
c.6719_6720insAACCAAACACACCCAACACA (p.Asn2240LysfsTer21)
c.6674_6675insAACCAAACACACCCAACACA (p.Asn2225LysfsTer21)
c.447-58062_447-58061insAACCAAACACACCCAACACA
c.4048_4049insAACCAAACACACCCAACACA
n.580_581insAACCAAACACACCCAACACA
c.6746_6747insAACCAAACACACCCAACACA (p.Asn2249LysfsTer21)
n.1794_1795insAACCAAACACACCCAACACA
n.308_309insAACCAAACACACCCAACACA
n.4231_4232insAACCAAACACACCCAACACA
c.6704_6705insAACCAAACACACCCAACACA (p.Asn2235LysfsTer21)
c.6677_6678insAACCAAACACACCCAACACA (p.Asn2226LysfsTer21)
c.6629_6630insAACCAAACACACCCAACACA (p.Asn2210LysfsTer21)
c.6680_6681insAACCAAACACACCCAACACA (p.Asn2227LysfsTer21)
c.6749_6750insAACCAAACACACCCAACACA (p.Asn2250LysfsTer21)
c.6716_6717insAACCAAACACACCCAACACA (p.Asn2239LysfsTer21)
c.6713_6714insAACCAAACACACCCAACACA (p.Asn2238LysfsTer21)
c.6638_6639insAACCAAACACACCCAACACA (p.Asn2213LysfsTer21)
3g.4788079_4788081delCA2664221043ITPR1c.6759_6761del (n.6759_6761del)
c.6724_6726del (p.Asp2242del)
c.6703_6705del (p.Asp2235del)
c.6604_6606del (p.Asp2202del)
c.6559_6561del (p.Asp2187del)
n.640_642del
c.997-18024_997-18022del (n.997-18024_997-18022del)
c.2647_2649del
n.4252_4254del
c.3083_3085del
c.4510_4512del (p.Asp1504del)
c.3656_3658del
c.6721_6723del (p.Asp2241del)
c.6676_6678del (p.Asp2226del)
c.447-58060_447-58058del
c.4050_4052del
n.582_584del
c.6748_6750del (p.Asp2250del)
n.1796_1798del
n.310_312del
n.4233_4235del
c.6706_6708del (p.Asp2236del)
c.6679_6681del (p.Asp2227del)
c.6631_6633del (p.Asp2211del)
c.6682_6684del (p.Asp2228del)
c.6751_6753del (p.Asp2251del)
c.6718_6720del (p.Asp2240del)
c.6715_6717del (p.Asp2239del)
c.6640_6642del (p.Asp2214del)
 gnomAD v4
3g.4788078T>ACA351640718ITPR1c.6758T>A (n.6758T>A)
c.6723T>A (p.Asn2241Lys)
c.6702T>A (p.Asn2234Lys)
c.6603T>A (p.Asn2201Lys)
c.6558T>A (p.Asn2186Lys)
n.639T>A
c.997-18025T>A (n.997-18025T>A)
c.2646T>A
n.4251T>A
c.3082T>A
c.4509T>A (p.Asn1503Lys)
c.3655T>A
c.6720T>A (p.Asn2240Lys)
c.6675T>A (p.Asn2225Lys)
c.447-58061T>A
c.4049T>A
n.581T>A
c.6747T>A (p.Asn2249Lys)
n.1795T>A
n.309T>A
n.4232T>A
c.6705T>A (p.Asn2235Lys)
c.6678T>A (p.Asn2226Lys)
c.6630T>A (p.Asn2210Lys)
c.6681T>A (p.Asn2227Lys)
c.6750T>A (p.Asn2250Lys)
c.6717T>A (p.Asn2239Lys)
c.6714T>A (p.Asn2238Lys)
c.6639T>A (p.Asn2213Lys)
3g.4788078T>CCA432323182ITPR1c.6758T>C (n.6758T>C)
c.6723T>C (p.Asn2241=)
c.6702T>C (p.Asn2234=)
c.6603T>C (p.Asn2201=)
c.6558T>C (p.Asn2186=)
n.639T>C
c.997-18025T>C (n.997-18025T>C)
c.2646T>C
n.4251T>C
c.3082T>C
c.4509T>C (p.Asn1503=)
c.3655T>C
c.6720T>C (p.Asn2240=)
c.6675T>C (p.Asn2225=)
c.447-58061T>C
c.4049T>C
n.581T>C
c.6747T>C (p.Asn2249=)
n.1795T>C
n.309T>C
n.4232T>C
c.6705T>C (p.Asn2235=)
c.6678T>C (p.Asn2226=)
c.6630T>C (p.Asn2210=)
c.6681T>C (p.Asn2227=)
c.6750T>C (p.Asn2250=)
c.6717T>C (p.Asn2239=)
c.6714T>C (p.Asn2238=)
c.6639T>C (p.Asn2213=)
 gnomAD v4
3g.4788078T>GCA351640719ITPR1c.6758T>G (n.6758T>G)
c.6723T>G (p.Asn2241Lys)
c.6702T>G (p.Asn2234Lys)
c.6603T>G (p.Asn2201Lys)
c.6558T>G (p.Asn2186Lys)
n.639T>G
c.997-18025T>G (n.997-18025T>G)
c.2646T>G
n.4251T>G
c.3082T>G
c.4509T>G (p.Asn1503Lys)
c.3655T>G
c.6720T>G (p.Asn2240Lys)
c.6675T>G (p.Asn2225Lys)
c.447-58061T>G
c.4049T>G
n.581T>G
c.6747T>G (p.Asn2249Lys)
n.1795T>G
n.309T>G
n.4232T>G
c.6705T>G (p.Asn2235Lys)
c.6678T>G (p.Asn2226Lys)
c.6630T>G (p.Asn2210Lys)
c.6681T>G (p.Asn2227Lys)
c.6750T>G (p.Asn2250Lys)
c.6717T>G (p.Asn2239Lys)
c.6714T>G (p.Asn2238Lys)
c.6639T>G (p.Asn2213Lys)
3g.4788079G>ACA351640720ITPR1c.6759G>A (n.6759G>A)
c.6724G>A (p.Asp2242Asn)
c.6703G>A (p.Asp2235Asn)
c.6604G>A (p.Asp2202Asn)
c.6559G>A (p.Asp2187Asn)
n.640G>A
c.997-18024G>A (n.997-18024G>A)
c.2647G>A
n.4252G>A
c.3083G>A
c.4510G>A (p.Asp1504Asn)
c.3656G>A
c.6721G>A (p.Asp2241Asn)
c.6676G>A (p.Asp2226Asn)
c.447-58060G>A
c.4050G>A
n.582G>A
c.6748G>A (p.Asp2250Asn)
n.1796G>A
n.310G>A
n.4233G>A
c.6706G>A (p.Asp2236Asn)
c.6679G>A (p.Asp2227Asn)
c.6631G>A (p.Asp2211Asn)
c.6682G>A (p.Asp2228Asn)
c.6751G>A (p.Asp2251Asn)
c.6718G>A (p.Asp2240Asn)
c.6715G>A (p.Asp2239Asn)
c.6640G>A (p.Asp2214Asn)
3g.4788079G>CCA351640721ITPR1c.6759G>C (n.6759G>C)
c.6724G>C (p.Asp2242His)
c.6703G>C (p.Asp2235His)
c.6604G>C (p.Asp2202His)
c.6559G>C (p.Asp2187His)
n.640G>C
c.997-18024G>C (n.997-18024G>C)
c.2647G>C
n.4252G>C
c.3083G>C
c.4510G>C (p.Asp1504His)
c.3656G>C
c.6721G>C (p.Asp2241His)
c.6676G>C (p.Asp2226His)
c.447-58060G>C
c.4050G>C
n.582G>C
c.6748G>C (p.Asp2250His)
n.1796G>C
n.310G>C
n.4233G>C
c.6706G>C (p.Asp2236His)
c.6679G>C (p.Asp2227His)
c.6631G>C (p.Asp2211His)
c.6682G>C (p.Asp2228His)
c.6751G>C (p.Asp2251His)
c.6718G>C (p.Asp2240His)
c.6715G>C (p.Asp2239His)
c.6640G>C (p.Asp2214His)
3g.4788079G>TCA351640722ITPR1c.6759G>T (n.6759G>T)
c.6724G>T (p.Asp2242Tyr)
c.6703G>T (p.Asp2235Tyr)
c.6604G>T (p.Asp2202Tyr)
c.6559G>T (p.Asp2187Tyr)
n.640G>T
c.997-18024G>T (n.997-18024G>T)
c.2647G>T
n.4252G>T
c.3083G>T
c.4510G>T (p.Asp1504Tyr)
c.3656G>T
c.6721G>T (p.Asp2241Tyr)
c.6676G>T (p.Asp2226Tyr)
c.447-58060G>T
c.4050G>T
n.582G>T
c.6748G>T (p.Asp2250Tyr)
n.1796G>T
n.310G>T
n.4233G>T
c.6706G>T (p.Asp2236Tyr)
c.6679G>T (p.Asp2227Tyr)
c.6631G>T (p.Asp2211Tyr)
c.6682G>T (p.Asp2228Tyr)
c.6751G>T (p.Asp2251Tyr)
c.6718G>T (p.Asp2240Tyr)
c.6715G>T (p.Asp2239Tyr)
c.6640G>T (p.Asp2214Tyr)
3g.4788080A=CA1342337452ITPR1c.6760A= (n.6760A=)
c.6725A= (p.Asp2242=)
c.6704A= (p.Asp2235=)
c.6605A= (p.Asp2202=)
c.6560A= (p.Asp2187=)
n.641A=
c.997-18023A= (n.997-18023A=)
c.2648A=
n.4253A=
c.3084A=
c.4511A= (p.Asp1504=)
c.3657A=
c.6722A= (p.Asp2241=)
c.6677A= (p.Asp2226=)
c.447-58059A=
c.4051A=
n.583A=
c.6749A= (p.Asp2250=)
n.1797A=
n.311A=
n.4234A=
c.6707A= (p.Asp2236=)
c.6680A= (p.Asp2227=)
c.6632A= (p.Asp2211=)
c.6683A= (p.Asp2228=)
c.6752A= (p.Asp2251=)
c.6719A= (p.Asp2240=)
c.6716A= (p.Asp2239=)
c.6641A= (p.Asp2214=)
3g.4788080A>CCA351640723ITPR1c.6760A>C (n.6760A>C)
c.6725A>C (p.Asp2242Ala)
c.6704A>C (p.Asp2235Ala)
c.6605A>C (p.Asp2202Ala)
c.6560A>C (p.Asp2187Ala)
n.641A>C
c.997-18023A>C (n.997-18023A>C)
c.2648A>C
n.4253A>C
c.3084A>C
c.4511A>C (p.Asp1504Ala)
c.3657A>C
c.6722A>C (p.Asp2241Ala)
c.6677A>C (p.Asp2226Ala)
c.447-58059A>C
c.4051A>C
n.583A>C
c.6749A>C (p.Asp2250Ala)
n.1797A>C
n.311A>C
n.4234A>C
c.6707A>C (p.Asp2236Ala)
c.6680A>C (p.Asp2227Ala)
c.6632A>C (p.Asp2211Ala)
c.6683A>C (p.Asp2228Ala)
c.6752A>C (p.Asp2251Ala)
c.6719A>C (p.Asp2240Ala)
c.6716A>C (p.Asp2239Ala)
c.6641A>C (p.Asp2214Ala)
3g.4788080A>GCA68828017ITPR1c.6760A>G (n.6760A>G)
c.6725A>G (p.Asp2242Gly)
c.6704A>G (p.Asp2235Gly)
c.6605A>G (p.Asp2202Gly)
c.6560A>G (p.Asp2187Gly)
n.641A>G
c.997-18023A>G (n.997-18023A>G)
c.2648A>G
n.4253A>G
c.3084A>G
c.4511A>G (p.Asp1504Gly)
c.3657A>G
c.6722A>G (p.Asp2241Gly)
c.6677A>G (p.Asp2226Gly)
c.447-58059A>G
c.4051A>G
n.583A>G
c.6749A>G (p.Asp2250Gly)
n.1797A>G
n.311A>G
n.4234A>G
c.6707A>G (p.Asp2236Gly)
c.6680A>G (p.Asp2227Gly)
c.6632A>G (p.Asp2211Gly)
c.6683A>G (p.Asp2228Gly)
c.6752A>G (p.Asp2251Gly)
c.6719A>G (p.Asp2240Gly)
c.6716A>G (p.Asp2239Gly)
c.6641A>G (p.Asp2214Gly)
 dbSNP gnomAD v4
3g.4788080A>TCA351640724ITPR1c.6760A>T (n.6760A>T)
c.6725A>T (p.Asp2242Val)
c.6704A>T (p.Asp2235Val)
c.6605A>T (p.Asp2202Val)
c.6560A>T (p.Asp2187Val)
n.641A>T
c.997-18023A>T (n.997-18023A>T)
c.2648A>T
n.4253A>T
c.3084A>T
c.4511A>T (p.Asp1504Val)
c.3657A>T
c.6722A>T (p.Asp2241Val)
c.6677A>T (p.Asp2226Val)
c.447-58059A>T
c.4051A>T
n.583A>T
c.6749A>T (p.Asp2250Val)
n.1797A>T
n.311A>T
n.4234A>T
c.6707A>T (p.Asp2236Val)
c.6680A>T (p.Asp2227Val)
c.6632A>T (p.Asp2211Val)
c.6683A>T (p.Asp2228Val)
c.6752A>T (p.Asp2251Val)
c.6719A>T (p.Asp2240Val)
c.6716A>T (p.Asp2239Val)
c.6641A>T (p.Asp2214Val)
3g.4788081T>ACA351640726ITPR1c.6761T>A (n.6761T>A)
c.6726T>A (p.Asp2242Glu)
c.6705T>A (p.Asp2235Glu)
c.6606T>A (p.Asp2202Glu)
c.6561T>A (p.Asp2187Glu)
n.642T>A
c.997-18022T>A (n.997-18022T>A)
c.2649T>A
n.4254T>A
c.3085T>A
c.4512T>A (p.Asp1504Glu)
c.3658T>A
c.6723T>A (p.Asp2241Glu)
c.6678T>A (p.Asp2226Glu)
c.447-58058T>A
c.4052T>A
n.584T>A
c.6750T>A (p.Asp2250Glu)
n.1798T>A
n.312T>A
n.4235T>A
c.6708T>A (p.Asp2236Glu)
c.6681T>A (p.Asp2227Glu)
c.6633T>A (p.Asp2211Glu)
c.6684T>A (p.Asp2228Glu)
c.6753T>A (p.Asp2251Glu)
c.6720T>A (p.Asp2240Glu)
c.6717T>A (p.Asp2239Glu)
c.6642T>A (p.Asp2214Glu)
3g.4788081T>CCA432323184ITPR1c.6761T>C (n.6761T>C)
c.6726T>C (p.Asp2242=)
c.6705T>C (p.Asp2235=)
c.6606T>C (p.Asp2202=)
c.6561T>C (p.Asp2187=)
n.642T>C
c.997-18022T>C (n.997-18022T>C)
c.2649T>C
n.4254T>C
c.3085T>C
c.4512T>C (p.Asp1504=)
c.3658T>C
c.6723T>C (p.Asp2241=)
c.6678T>C (p.Asp2226=)
c.447-58058T>C
c.4052T>C
n.584T>C
c.6750T>C (p.Asp2250=)
n.1798T>C
n.312T>C
n.4235T>C
c.6708T>C (p.Asp2236=)
c.6681T>C (p.Asp2227=)
c.6633T>C (p.Asp2211=)
c.6684T>C (p.Asp2228=)
c.6753T>C (p.Asp2251=)
c.6720T>C (p.Asp2240=)
c.6717T>C (p.Asp2239=)
c.6642T>C (p.Asp2214=)
3g.4788081T>GCA351640725ITPR1c.6761T>G (n.6761T>G)
c.6726T>G (p.Asp2242Glu)
c.6705T>G (p.Asp2235Glu)
c.6606T>G (p.Asp2202Glu)
c.6561T>G (p.Asp2187Glu)
n.642T>G
c.997-18022T>G (n.997-18022T>G)
c.2649T>G
n.4254T>G
c.3085T>G
c.4512T>G (p.Asp1504Glu)
c.3658T>G
c.6723T>G (p.Asp2241Glu)
c.6678T>G (p.Asp2226Glu)
c.447-58058T>G
c.4052T>G
n.584T>G
c.6750T>G (p.Asp2250Glu)
n.1798T>G
n.312T>G
n.4235T>G
c.6708T>G (p.Asp2236Glu)
c.6681T>G (p.Asp2227Glu)
c.6633T>G (p.Asp2211Glu)
c.6684T>G (p.Asp2228Glu)
c.6753T>G (p.Asp2251Glu)
c.6720T>G (p.Asp2240Glu)
c.6717T>G (p.Asp2239Glu)
c.6642T>G (p.Asp2214Glu)
3g.4788082T>ACA351640727ITPR1c.6762T>A (n.6762T>A)
c.6727T>A (p.Phe2243Ile)
c.6706T>A (p.Phe2236Ile)
c.6607T>A (p.Phe2203Ile)
c.6562T>A (p.Phe2188Ile)
n.643T>A
c.997-18021T>A (n.997-18021T>A)
c.2650T>A
n.4255T>A
c.3086T>A
c.4513T>A (p.Phe1505Ile)
c.3659T>A
c.6724T>A (p.Phe2242Ile)
c.6679T>A (p.Phe2227Ile)
c.447-58057T>A
c.4053T>A
n.585T>A
c.6751T>A (p.Phe2251Ile)
n.1799T>A
n.313T>A
n.4236T>A
c.6709T>A (p.Phe2237Ile)
c.6682T>A (p.Phe2228Ile)
c.6634T>A (p.Phe2212Ile)
c.6685T>A (p.Phe2229Ile)
c.6754T>A (p.Phe2252Ile)
c.6721T>A (p.Phe2241Ile)
c.6718T>A (p.Phe2240Ile)
c.6643T>A (p.Phe2215Ile)
3g.4788082T>CCA351640729ITPR1c.6762T>C (n.6762T>C)
c.6727T>C (p.Phe2243Leu)
c.6706T>C (p.Phe2236Leu)
c.6607T>C (p.Phe2203Leu)
c.6562T>C (p.Phe2188Leu)
n.643T>C
c.997-18021T>C (n.997-18021T>C)
c.2650T>C
n.4255T>C
c.3086T>C
c.4513T>C (p.Phe1505Leu)
c.3659T>C
c.6724T>C (p.Phe2242Leu)
c.6679T>C (p.Phe2227Leu)
c.447-58057T>C
c.4053T>C
n.585T>C
c.6751T>C (p.Phe2251Leu)
n.1799T>C
n.313T>C
n.4236T>C
c.6709T>C (p.Phe2237Leu)
c.6682T>C (p.Phe2228Leu)
c.6634T>C (p.Phe2212Leu)
c.6685T>C (p.Phe2229Leu)
c.6754T>C (p.Phe2252Leu)
c.6721T>C (p.Phe2241Leu)
c.6718T>C (p.Phe2240Leu)
c.6643T>C (p.Phe2215Leu)
3g.4788082T>GCA351640728ITPR1c.6762T>G (n.6762T>G)
c.6727T>G (p.Phe2243Val)
c.6706T>G (p.Phe2236Val)
c.6607T>G (p.Phe2203Val)
c.6562T>G (p.Phe2188Val)
n.643T>G
c.997-18021T>G (n.997-18021T>G)
c.2650T>G
n.4255T>G
c.3086T>G
c.4513T>G (p.Phe1505Val)
c.3659T>G
c.6724T>G (p.Phe2242Val)
c.6679T>G (p.Phe2227Val)
c.447-58057T>G
c.4053T>G
n.585T>G
c.6751T>G (p.Phe2251Val)
n.1799T>G
n.313T>G
n.4236T>G
c.6709T>G (p.Phe2237Val)
c.6682T>G (p.Phe2228Val)
c.6634T>G (p.Phe2212Val)
c.6685T>G (p.Phe2229Val)
c.6754T>G (p.Phe2252Val)
c.6721T>G (p.Phe2241Val)
c.6718T>G (p.Phe2240Val)
c.6643T>G (p.Phe2215Val)
3g.4788083T>ACA351640730ITPR1c.6763T>A (n.6763T>A)
c.6728T>A (p.Phe2243Tyr)
c.6707T>A (p.Phe2236Tyr)
c.6608T>A (p.Phe2203Tyr)
c.6563T>A (p.Phe2188Tyr)
n.644T>A
c.997-18020T>A (n.997-18020T>A)
c.2651T>A
n.4256T>A
c.3087T>A
c.4514T>A (p.Phe1505Tyr)
c.3660T>A
c.6725T>A (p.Phe2242Tyr)
c.6680T>A (p.Phe2227Tyr)
c.447-58056T>A
c.4054T>A
n.586T>A
c.6752T>A (p.Phe2251Tyr)
n.1800T>A
n.314T>A
n.4237T>A
c.6710T>A (p.Phe2237Tyr)
c.6683T>A (p.Phe2228Tyr)
c.6635T>A (p.Phe2212Tyr)
c.6686T>A (p.Phe2229Tyr)
c.6755T>A (p.Phe2252Tyr)
c.6722T>A (p.Phe2241Tyr)
c.6719T>A (p.Phe2240Tyr)
c.6644T>A (p.Phe2215Tyr)
3g.4788083T>CCA351640731ITPR1c.6763T>C (n.6763T>C)
c.6728T>C (p.Phe2243Ser)
c.6707T>C (p.Phe2236Ser)
c.6608T>C (p.Phe2203Ser)
c.6563T>C (p.Phe2188Ser)
n.644T>C
c.997-18020T>C (n.997-18020T>C)
c.2651T>C
n.4256T>C
c.3087T>C
c.4514T>C (p.Phe1505Ser)
c.3660T>C
c.6725T>C (p.Phe2242Ser)
c.6680T>C (p.Phe2227Ser)
c.447-58056T>C
c.4054T>C
n.586T>C
c.6752T>C (p.Phe2251Ser)
n.1800T>C
n.314T>C
n.4237T>C
c.6710T>C (p.Phe2237Ser)
c.6683T>C (p.Phe2228Ser)
c.6635T>C (p.Phe2212Ser)
c.6686T>C (p.Phe2229Ser)
c.6755T>C (p.Phe2252Ser)
c.6722T>C (p.Phe2241Ser)
c.6719T>C (p.Phe2240Ser)
c.6644T>C (p.Phe2215Ser)
3g.4788083T>GCA351640732ITPR1c.6763T>G (n.6763T>G)
c.6728T>G (p.Phe2243Cys)
c.6707T>G (p.Phe2236Cys)
c.6608T>G (p.Phe2203Cys)
c.6563T>G (p.Phe2188Cys)
n.644T>G
c.997-18020T>G (n.997-18020T>G)
c.2651T>G
n.4256T>G
c.3087T>G
c.4514T>G (p.Phe1505Cys)
c.3660T>G
c.6725T>G (p.Phe2242Cys)
c.6680T>G (p.Phe2227Cys)
c.447-58056T>G
c.4054T>G
n.586T>G
c.6752T>G (p.Phe2251Cys)
n.1800T>G
n.314T>G
n.4237T>G
c.6710T>G (p.Phe2237Cys)
c.6683T>G (p.Phe2228Cys)
c.6635T>G (p.Phe2212Cys)
c.6686T>G (p.Phe2229Cys)
c.6755T>G (p.Phe2252Cys)
c.6722T>G (p.Phe2241Cys)
c.6719T>G (p.Phe2240Cys)
c.6644T>G (p.Phe2215Cys)
3g.4788084C>ACA351640735ITPR1c.6764C>A (n.6764C>A)
c.6729C>A (p.Phe2243Leu)
c.6708C>A (p.Phe2236Leu)
c.6609C>A (p.Phe2203Leu)
c.6564C>A (p.Phe2188Leu)
n.645C>A
c.997-18019C>A (n.997-18019C>A)
c.2652C>A
n.4257C>A
c.3088C>A
c.4515C>A (p.Phe1505Leu)
c.3661C>A
c.6726C>A (p.Phe2242Leu)
c.6681C>A (p.Phe2227Leu)
c.447-58055C>A
c.4055C>A
n.587C>A
c.6753C>A (p.Phe2251Leu)
n.1801C>A
n.315C>A
n.4238C>A
c.6711C>A (p.Phe2237Leu)
c.6684C>A (p.Phe2228Leu)
c.6636C>A (p.Phe2212Leu)
c.6687C>A (p.Phe2229Leu)
c.6756C>A (p.Phe2252Leu)
c.6723C>A (p.Phe2241Leu)
c.6720C>A (p.Phe2240Leu)
c.6645C>A (p.Phe2215Leu)
3g.4788084C>GCA351640737ITPR1c.6764C>G (n.6764C>G)
c.6729C>G (p.Phe2243Leu)
c.6708C>G (p.Phe2236Leu)
c.6609C>G (p.Phe2203Leu)
c.6564C>G (p.Phe2188Leu)
n.645C>G
c.997-18019C>G (n.997-18019C>G)
c.2652C>G
n.4257C>G
c.3088C>G
c.4515C>G (p.Phe1505Leu)
c.3661C>G
c.6726C>G (p.Phe2242Leu)
c.6681C>G (p.Phe2227Leu)
c.447-58055C>G
c.4055C>G
n.587C>G
c.6753C>G (p.Phe2251Leu)
n.1801C>G
n.315C>G
n.4238C>G
c.6711C>G (p.Phe2237Leu)
c.6684C>G (p.Phe2228Leu)
c.6636C>G (p.Phe2212Leu)
c.6687C>G (p.Phe2229Leu)
c.6756C>G (p.Phe2252Leu)
c.6723C>G (p.Phe2241Leu)
c.6720C>G (p.Phe2240Leu)
c.6645C>G (p.Phe2215Leu)
3g.4788084C>TCA432323186ITPR1c.6764C>T (n.6764C>T)
c.6729C>T (p.Phe2243=)
c.6708C>T (p.Phe2236=)
c.6609C>T (p.Phe2203=)
c.6564C>T (p.Phe2188=)
n.645C>T
c.997-18019C>T (n.997-18019C>T)
c.2652C>T
n.4257C>T
c.3088C>T
c.4515C>T (p.Phe1505=)
c.3661C>T
c.6726C>T (p.Phe2242=)
c.6681C>T (p.Phe2227=)
c.447-58055C>T
c.4055C>T
n.587C>T
c.6753C>T (p.Phe2251=)
n.1801C>T
n.315C>T
n.4238C>T
c.6711C>T (p.Phe2237=)
c.6684C>T (p.Phe2228=)
c.6636C>T (p.Phe2212=)
c.6687C>T (p.Phe2229=)
c.6756C>T (p.Phe2252=)
c.6723C>T (p.Phe2241=)
c.6720C>T (p.Phe2240=)
c.6645C>T (p.Phe2215=)
 COSMIC COSMIC COSMIC
3g.4788085T>ACA351640738ITPR1c.6765T>A (n.6765T>A)
c.6730T>A (p.Phe2244Ile)
c.6709T>A (p.Phe2237Ile)
c.6610T>A (p.Phe2204Ile)
c.6565T>A (p.Phe2189Ile)
n.646T>A
c.997-18018T>A (n.997-18018T>A)
c.2653T>A
n.4258T>A
c.3089T>A
c.4516T>A (p.Phe1506Ile)
c.3662T>A
c.6727T>A (p.Phe2243Ile)
c.6682T>A (p.Phe2228Ile)
c.447-58054T>A
c.4056T>A
n.588T>A
c.6754T>A (p.Phe2252Ile)
n.1802T>A
n.316T>A
n.4239T>A
c.6712T>A (p.Phe2238Ile)
c.6685T>A (p.Phe2229Ile)
c.6637T>A (p.Phe2213Ile)
c.6688T>A (p.Phe2230Ile)
c.6757T>A (p.Phe2253Ile)
c.6724T>A (p.Phe2242Ile)
c.6721T>A (p.Phe2241Ile)
c.6646T>A (p.Phe2216Ile)
3g.4788085T>CCA351640740ITPR1c.6765T>C (n.6765T>C)
c.6730T>C (p.Phe2244Leu)
c.6709T>C (p.Phe2237Leu)
c.6610T>C (p.Phe2204Leu)
c.6565T>C (p.Phe2189Leu)
n.646T>C
c.997-18018T>C (n.997-18018T>C)
c.2653T>C
n.4258T>C
c.3089T>C
c.4516T>C (p.Phe1506Leu)
c.3662T>C
c.6727T>C (p.Phe2243Leu)
c.6682T>C (p.Phe2228Leu)
c.447-58054T>C
c.4056T>C
n.588T>C
c.6754T>C (p.Phe2252Leu)
n.1802T>C
n.316T>C
n.4239T>C
c.6712T>C (p.Phe2238Leu)
c.6685T>C (p.Phe2229Leu)
c.6637T>C (p.Phe2213Leu)
c.6688T>C (p.Phe2230Leu)
c.6757T>C (p.Phe2253Leu)
c.6724T>C (p.Phe2242Leu)
c.6721T>C (p.Phe2241Leu)
c.6646T>C (p.Phe2216Leu)
3g.4788085T>GCA351640741ITPR1c.6765T>G (n.6765T>G)
c.6730T>G (p.Phe2244Val)
c.6709T>G (p.Phe2237Val)
c.6610T>G (p.Phe2204Val)
c.6565T>G (p.Phe2189Val)
n.646T>G
c.997-18018T>G (n.997-18018T>G)
c.2653T>G
n.4258T>G
c.3089T>G
c.4516T>G (p.Phe1506Val)
c.3662T>G
c.6727T>G (p.Phe2243Val)
c.6682T>G (p.Phe2228Val)
c.447-58054T>G
c.4056T>G
n.588T>G
c.6754T>G (p.Phe2252Val)
n.1802T>G
n.316T>G
n.4239T>G
c.6712T>G (p.Phe2238Val)
c.6685T>G (p.Phe2229Val)
c.6637T>G (p.Phe2213Val)
c.6688T>G (p.Phe2230Val)
c.6757T>G (p.Phe2253Val)
c.6724T>G (p.Phe2242Val)
c.6721T>G (p.Phe2241Val)
c.6646T>G (p.Phe2216Val)
3g.4788086T>ACA351640743ITPR1c.6766T>A (n.6766T>A)
c.6731T>A (p.Phe2244Tyr)
c.6710T>A (p.Phe2237Tyr)
c.6611T>A (p.Phe2204Tyr)
c.6566T>A (p.Phe2189Tyr)
n.647T>A
c.997-18017T>A (n.997-18017T>A)
c.2654T>A
n.4259T>A
c.3090T>A
c.4517T>A (p.Phe1506Tyr)
c.3663T>A
c.6728T>A (p.Phe2243Tyr)
c.6683T>A (p.Phe2228Tyr)
c.447-58053T>A
c.4057T>A
n.589T>A
c.6755T>A (p.Phe2252Tyr)
n.1803T>A
n.317T>A
n.4240T>A
c.6713T>A (p.Phe2238Tyr)
c.6686T>A (p.Phe2229Tyr)
c.6638T>A (p.Phe2213Tyr)
c.6689T>A (p.Phe2230Tyr)
c.6758T>A (p.Phe2253Tyr)
c.6725T>A (p.Phe2242Tyr)
c.6722T>A (p.Phe2241Tyr)
c.6647T>A (p.Phe2216Tyr)
3g.4788086T>CCA351640745ITPR1c.6766T>C (n.6766T>C)
c.6731T>C (p.Phe2244Ser)
c.6710T>C (p.Phe2237Ser)
c.6611T>C (p.Phe2204Ser)
c.6566T>C (p.Phe2189Ser)
n.647T>C
c.997-18017T>C (n.997-18017T>C)
c.2654T>C
n.4259T>C
c.3090T>C
c.4517T>C (p.Phe1506Ser)
c.3663T>C
c.6728T>C (p.Phe2243Ser)
c.6683T>C (p.Phe2228Ser)
c.447-58053T>C
c.4057T>C
n.589T>C
c.6755T>C (p.Phe2252Ser)
n.1803T>C
n.317T>C
n.4240T>C
c.6713T>C (p.Phe2238Ser)
c.6686T>C (p.Phe2229Ser)
c.6638T>C (p.Phe2213Ser)
c.6689T>C (p.Phe2230Ser)
c.6758T>C (p.Phe2253Ser)
c.6725T>C (p.Phe2242Ser)
c.6722T>C (p.Phe2241Ser)
c.6647T>C (p.Phe2216Ser)
3g.4788086T>GCA351640748ITPR1c.6766T>G (n.6766T>G)
c.6731T>G (p.Phe2244Cys)
c.6710T>G (p.Phe2237Cys)
c.6611T>G (p.Phe2204Cys)
c.6566T>G (p.Phe2189Cys)
n.647T>G
c.997-18017T>G (n.997-18017T>G)
c.2654T>G
n.4259T>G
c.3090T>G
c.4517T>G (p.Phe1506Cys)
c.3663T>G
c.6728T>G (p.Phe2243Cys)
c.6683T>G (p.Phe2228Cys)
c.447-58053T>G
c.4057T>G
n.589T>G
c.6755T>G (p.Phe2252Cys)
n.1803T>G
n.317T>G
n.4240T>G
c.6713T>G (p.Phe2238Cys)
c.6686T>G (p.Phe2229Cys)
c.6638T>G (p.Phe2213Cys)
c.6689T>G (p.Phe2230Cys)
c.6758T>G (p.Phe2253Cys)
c.6725T>G (p.Phe2242Cys)
c.6722T>G (p.Phe2241Cys)
c.6647T>G (p.Phe2216Cys)
3g.4788087T>ACA351640750ITPR1c.6767T>A (n.6767T>A)
c.6732T>A (p.Phe2244Leu)
c.6711T>A (p.Phe2237Leu)
c.6612T>A (p.Phe2204Leu)
c.6567T>A (p.Phe2189Leu)
n.648T>A
c.997-18016T>A (n.997-18016T>A)
c.2655T>A
n.4260T>A
c.3091T>A
c.4518T>A (p.Phe1506Leu)
c.3664T>A
c.6729T>A (p.Phe2243Leu)
c.6684T>A (p.Phe2228Leu)
c.447-58052T>A
c.4058T>A
n.590T>A
c.6756T>A (p.Phe2252Leu)
n.1804T>A
n.318T>A
n.4241T>A
c.6714T>A (p.Phe2238Leu)
c.6687T>A (p.Phe2229Leu)
c.6639T>A (p.Phe2213Leu)
c.6690T>A (p.Phe2230Leu)
c.6759T>A (p.Phe2253Leu)
c.6726T>A (p.Phe2242Leu)
c.6723T>A (p.Phe2241Leu)
c.6648T>A (p.Phe2216Leu)
3g.4788087T>CCA432323190ITPR1c.6767T>C (n.6767T>C)
c.6732T>C (p.Phe2244=)
c.6711T>C (p.Phe2237=)
c.6612T>C (p.Phe2204=)
c.6567T>C (p.Phe2189=)
n.648T>C
c.997-18016T>C (n.997-18016T>C)
c.2655T>C
n.4260T>C
c.3091T>C
c.4518T>C (p.Phe1506=)
c.3664T>C
c.6729T>C (p.Phe2243=)
c.6684T>C (p.Phe2228=)
c.447-58052T>C
c.4058T>C
n.590T>C
c.6756T>C (p.Phe2252=)
n.1804T>C
n.318T>C
n.4241T>C
c.6714T>C (p.Phe2238=)
c.6687T>C (p.Phe2229=)
c.6639T>C (p.Phe2213=)
c.6690T>C (p.Phe2230=)
c.6759T>C (p.Phe2253=)
c.6726T>C (p.Phe2242=)
c.6723T>C (p.Phe2241=)
c.6648T>C (p.Phe2216=)
3g.4788087T>GCA351640752ITPR1c.6767T>G (n.6767T>G)
c.6732T>G (p.Phe2244Leu)
c.6711T>G (p.Phe2237Leu)
c.6612T>G (p.Phe2204Leu)
c.6567T>G (p.Phe2189Leu)
n.648T>G
c.997-18016T>G (n.997-18016T>G)
c.2655T>G
n.4260T>G
c.3091T>G
c.4518T>G (p.Phe1506Leu)
c.3664T>G
c.6729T>G (p.Phe2243Leu)
c.6684T>G (p.Phe2228Leu)
c.447-58052T>G
c.4058T>G
n.590T>G
c.6756T>G (p.Phe2252Leu)
n.1804T>G
n.318T>G
n.4241T>G
c.6714T>G (p.Phe2238Leu)
c.6687T>G (p.Phe2229Leu)
c.6639T>G (p.Phe2213Leu)
c.6690T>G (p.Phe2230Leu)
c.6759T>G (p.Phe2253Leu)
c.6726T>G (p.Phe2242Leu)
c.6723T>G (p.Phe2241Leu)
c.6648T>G (p.Phe2216Leu)
3g.4788088C>ACA351640754ITPR1c.6768C>A (n.6768C>A)
c.6733C>A (p.Leu2245Met)
c.6712C>A (p.Leu2238Met)
c.6613C>A (p.Leu2205Met)
c.6568C>A (p.Leu2190Met)
n.649C>A
c.997-18015C>A (n.997-18015C>A)
c.2656C>A
n.4261C>A
c.3092C>A
c.4519C>A (p.Leu1507Met)
c.3665C>A
c.6730C>A (p.Leu2244Met)
c.6685C>A (p.Leu2229Met)
c.447-58051C>A
c.4059C>A
n.591C>A
c.6757C>A (p.Leu2253Met)
n.1805C>A
n.319C>A
n.4242C>A
c.6715C>A (p.Leu2239Met)
c.6688C>A (p.Leu2230Met)
c.6640C>A (p.Leu2214Met)
c.6691C>A (p.Leu2231Met)
c.6760C>A (p.Leu2254Met)
c.6727C>A (p.Leu2243Met)
c.6724C>A (p.Leu2242Met)
c.6649C>A (p.Leu2217Met)
 gnomAD v4
3g.4788088C>GCA351640756ITPR1c.6768C>G (n.6768C>G)
c.6733C>G (p.Leu2245Val)
c.6712C>G (p.Leu2238Val)
c.6613C>G (p.Leu2205Val)
c.6568C>G (p.Leu2190Val)
n.649C>G
c.997-18015C>G (n.997-18015C>G)
c.2656C>G
n.4261C>G
c.3092C>G
c.4519C>G (p.Leu1507Val)
c.3665C>G
c.6730C>G (p.Leu2244Val)
c.6685C>G (p.Leu2229Val)
c.447-58051C>G
c.4059C>G
n.591C>G
c.6757C>G (p.Leu2253Val)
n.1805C>G
n.319C>G
n.4242C>G
c.6715C>G (p.Leu2239Val)
c.6688C>G (p.Leu2230Val)
c.6640C>G (p.Leu2214Val)
c.6691C>G (p.Leu2231Val)
c.6760C>G (p.Leu2254Val)
c.6727C>G (p.Leu2243Val)
c.6724C>G (p.Leu2242Val)
c.6649C>G (p.Leu2217Val)
3g.4788088C>TCA432323191ITPR1c.6768C>T (n.6768C>T)
c.6733C>T (p.Leu2245=)
c.6712C>T (p.Leu2238=)
c.6613C>T (p.Leu2205=)
c.6568C>T (p.Leu2190=)
n.649C>T
c.997-18015C>T (n.997-18015C>T)
c.2656C>T
n.4261C>T
c.3092C>T
c.4519C>T (p.Leu1507=)
c.3665C>T
c.6730C>T (p.Leu2244=)
c.6685C>T (p.Leu2229=)
c.447-58051C>T
c.4059C>T
n.591C>T
c.6757C>T (p.Leu2253=)
n.1805C>T
n.319C>T
n.4242C>T
c.6715C>T (p.Leu2239=)
c.6688C>T (p.Leu2230=)
c.6640C>T (p.Leu2214=)
c.6691C>T (p.Leu2231=)
c.6760C>T (p.Leu2254=)
c.6727C>T (p.Leu2243=)
c.6724C>T (p.Leu2242=)
c.6649C>T (p.Leu2217=)
3g.4788089T>ACA351640758ITPR1c.6769T>A (n.6769T>A)
c.6734T>A (p.Leu2245Gln)
c.6713T>A (p.Leu2238Gln)
c.6614T>A (p.Leu2205Gln)
c.6569T>A (p.Leu2190Gln)
n.650T>A
c.997-18014T>A (n.997-18014T>A)
c.2657T>A
n.4262T>A
c.3093T>A
c.4520T>A (p.Leu1507Gln)
c.3666T>A
c.6731T>A (p.Leu2244Gln)
c.6686T>A (p.Leu2229Gln)
c.447-58050T>A
c.4060T>A
n.592T>A
c.6758T>A (p.Leu2253Gln)
n.1806T>A
n.320T>A
n.4243T>A
c.6716T>A (p.Leu2239Gln)
c.6689T>A (p.Leu2230Gln)
c.6641T>A (p.Leu2214Gln)
c.6692T>A (p.Leu2231Gln)
c.6761T>A (p.Leu2254Gln)
c.6728T>A (p.Leu2243Gln)
c.6725T>A (p.Leu2242Gln)
c.6650T>A (p.Leu2217Gln)
3g.4788089T>CCA351640759ITPR1c.6769T>C (n.6769T>C)
c.6734T>C (p.Leu2245Pro)
c.6713T>C (p.Leu2238Pro)
c.6614T>C (p.Leu2205Pro)
c.6569T>C (p.Leu2190Pro)
n.650T>C
c.997-18014T>C (n.997-18014T>C)
c.2657T>C
n.4262T>C
c.3093T>C
c.4520T>C (p.Leu1507Pro)
c.3666T>C
c.6731T>C (p.Leu2244Pro)
c.6686T>C (p.Leu2229Pro)
c.447-58050T>C
c.4060T>C
n.592T>C
c.6758T>C (p.Leu2253Pro)
n.1806T>C
n.320T>C
n.4243T>C
c.6716T>C (p.Leu2239Pro)
c.6689T>C (p.Leu2230Pro)
c.6641T>C (p.Leu2214Pro)
c.6692T>C (p.Leu2231Pro)
c.6761T>C (p.Leu2254Pro)
c.6728T>C (p.Leu2243Pro)
c.6725T>C (p.Leu2242Pro)
c.6650T>C (p.Leu2217Pro)
3g.4788089T>GCA351640762ITPR1c.6769T>G (n.6769T>G)
c.6734T>G (p.Leu2245Arg)
c.6713T>G (p.Leu2238Arg)
c.6614T>G (p.Leu2205Arg)
c.6569T>G (p.Leu2190Arg)
n.650T>G
c.997-18014T>G (n.997-18014T>G)
c.2657T>G
n.4262T>G
c.3093T>G
c.4520T>G (p.Leu1507Arg)
c.3666T>G
c.6731T>G (p.Leu2244Arg)
c.6686T>G (p.Leu2229Arg)
c.447-58050T>G
c.4060T>G
n.592T>G
c.6758T>G (p.Leu2253Arg)
n.1806T>G
n.320T>G
n.4243T>G
c.6716T>G (p.Leu2239Arg)
c.6689T>G (p.Leu2230Arg)
c.6641T>G (p.Leu2214Arg)
c.6692T>G (p.Leu2231Arg)
c.6761T>G (p.Leu2254Arg)
c.6728T>G (p.Leu2243Arg)
c.6725T>G (p.Leu2242Arg)
c.6650T>G (p.Leu2217Arg)
3g.4788090G>ACA68828019ITPR1c.6770G>A (n.6770G>A)
c.6735G>A (p.Leu2245=)
c.6714G>A (p.Leu2238=)
c.6615G>A (p.Leu2205=)
c.6570G>A (p.Leu2190=)
n.651G>A
c.997-18013G>A (n.997-18013G>A)
c.2658G>A
n.4263G>A
c.3094G>A
c.4521G>A (p.Leu1507=)
c.3667G>A
c.6732G>A (p.Leu2244=)
c.6687G>A (p.Leu2229=)
c.447-58049G>A
c.4061G>A
n.593G>A
c.6759G>A (p.Leu2253=)
n.1807G>A
n.321G>A
n.4244G>A
c.6717G>A (p.Leu2239=)
c.6690G>A (p.Leu2230=)
c.6642G>A (p.Leu2214=)
c.6693G>A (p.Leu2231=)
c.6762G>A (p.Leu2254=)
c.6729G>A (p.Leu2243=)
c.6726G>A (p.Leu2242=)
c.6651G>A (p.Leu2217=)
 dbSNP
3g.4788090G>CCA432323193ITPR1c.6770G>C (n.6770G>C)
c.6735G>C (p.Leu2245=)
c.6714G>C (p.Leu2238=)
c.6615G>C (p.Leu2205=)
c.6570G>C (p.Leu2190=)
n.651G>C
c.997-18013G>C (n.997-18013G>C)
c.2658G>C
n.4263G>C
c.3094G>C
c.4521G>C (p.Leu1507=)
c.3667G>C
c.6732G>C (p.Leu2244=)
c.6687G>C (p.Leu2229=)
c.447-58049G>C
c.4061G>C
n.593G>C
c.6759G>C (p.Leu2253=)
n.1807G>C
n.321G>C
n.4244G>C
c.6717G>C (p.Leu2239=)
c.6690G>C (p.Leu2230=)
c.6642G>C (p.Leu2214=)
c.6693G>C (p.Leu2231=)
c.6762G>C (p.Leu2254=)
c.6729G>C (p.Leu2243=)
c.6726G>C (p.Leu2242=)
c.6651G>C (p.Leu2217=)
3g.4788090G=CA1342337453ITPR1c.6770G= (n.6770G=)
c.6735G= (p.Leu2245=)
c.6714G= (p.Leu2238=)
c.6615G= (p.Leu2205=)
c.6570G= (p.Leu2190=)
n.651G=
c.997-18013G= (n.997-18013G=)
c.2658G=
n.4263G=
c.3094G=
c.4521G= (p.Leu1507=)
c.3667G=
c.6732G= (p.Leu2244=)
c.6687G= (p.Leu2229=)
c.447-58049G=
c.4061G=
n.593G=
c.6759G= (p.Leu2253=)
n.1807G=
n.321G=
n.4244G=
c.6717G= (p.Leu2239=)
c.6690G= (p.Leu2230=)
c.6642G= (p.Leu2214=)
c.6693G= (p.Leu2231=)
c.6762G= (p.Leu2254=)
c.6729G= (p.Leu2243=)
c.6726G= (p.Leu2242=)
c.6651G= (p.Leu2217=)
3g.4788090G>TCA432323194ITPR1c.6770G>T (n.6770G>T)
c.6735G>T (p.Leu2245=)
c.6714G>T (p.Leu2238=)
c.6615G>T (p.Leu2205=)
c.6570G>T (p.Leu2190=)
n.651G>T
c.997-18013G>T (n.997-18013G>T)
c.2658G>T
n.4263G>T
c.3094G>T
c.4521G>T (p.Leu1507=)
c.3667G>T
c.6732G>T (p.Leu2244=)
c.6687G>T (p.Leu2229=)
c.447-58049G>T
c.4061G>T
n.593G>T
c.6759G>T (p.Leu2253=)
n.1807G>T
n.321G>T
n.4244G>T
c.6717G>T (p.Leu2239=)
c.6690G>T (p.Leu2230=)
c.6642G>T (p.Leu2214=)
c.6693G>T (p.Leu2231=)
c.6762G>T (p.Leu2254=)
c.6729G>T (p.Leu2243=)
c.6726G>T (p.Leu2242=)
c.6651G>T (p.Leu2217=)
3g.4788091C>ACA432323195ITPR1c.6771C>A (n.6771C>A)
c.6736C>A (p.Arg2246=)
c.6715C>A (p.Arg2239=)
c.6616C>A (p.Arg2206=)
c.6571C>A (p.Arg2191=)
n.652C>A
c.997-18012C>A (n.997-18012C>A)
c.2659C>A
n.4264C>A
c.3095C>A
c.4522C>A (p.Arg1508=)
c.3668C>A
c.6733C>A (p.Arg2245=)
c.6688C>A (p.Arg2230=)
c.447-58048C>A
c.4062C>A
n.594C>A
c.6760C>A (p.Arg2254=)
n.1808C>A
n.322C>A
n.4245C>A
c.6718C>A (p.Arg2240=)
c.6691C>A (p.Arg2231=)
c.6643C>A (p.Arg2215=)
c.6694C>A (p.Arg2232=)
c.6763C>A (p.Arg2255=)
c.6730C>A (p.Arg2244=)
c.6727C>A (p.Arg2243=)
c.6652C>A (p.Arg2218=)
3g.4788091C=CA1342337454ITPR1c.6771C= (n.6771C=)
c.6736C= (p.Arg2246=)
c.6715C= (p.Arg2239=)
c.6616C= (p.Arg2206=)
c.6571C= (p.Arg2191=)
n.652C=
c.997-18012C= (n.997-18012C=)
c.2659C=
n.4264C=
c.3095C=
c.4522C= (p.Arg1508=)
c.3668C=
c.6733C= (p.Arg2245=)
c.6688C= (p.Arg2230=)
c.447-58048C=
c.4062C=
n.594C=
c.6760C= (p.Arg2254=)
n.1808C=
n.322C=
n.4245C=
c.6718C= (p.Arg2240=)
c.6691C= (p.Arg2231=)
c.6643C= (p.Arg2215=)
c.6694C= (p.Arg2232=)
c.6763C= (p.Arg2255=)
c.6730C= (p.Arg2244=)
c.6727C= (p.Arg2243=)
c.6652C= (p.Arg2218=)
3g.4788091C>GCA351640763ITPR1c.6771C>G (n.6771C>G)
c.6736C>G (p.Arg2246Gly)
c.6715C>G (p.Arg2239Gly)
c.6616C>G (p.Arg2206Gly)
c.6571C>G (p.Arg2191Gly)
n.652C>G
c.997-18012C>G (n.997-18012C>G)
c.2659C>G
n.4264C>G
c.3095C>G
c.4522C>G (p.Arg1508Gly)
c.3668C>G
c.6733C>G (p.Arg2245Gly)
c.6688C>G (p.Arg2230Gly)
c.447-58048C>G
c.4062C>G
n.594C>G
c.6760C>G (p.Arg2254Gly)
n.1808C>G
n.322C>G
n.4245C>G
c.6718C>G (p.Arg2240Gly)
c.6691C>G (p.Arg2231Gly)
c.6643C>G (p.Arg2215Gly)
c.6694C>G (p.Arg2232Gly)
c.6763C>G (p.Arg2255Gly)
c.6730C>G (p.Arg2244Gly)
c.6727C>G (p.Arg2243Gly)
c.6652C>G (p.Arg2218Gly)
3g.4788091C>TCA2232661ITPR1c.6771C>T (n.6771C>T)
c.6736C>T (p.Arg2246Trp)
c.6715C>T (p.Arg2239Trp)
c.6616C>T (p.Arg2206Trp)
c.6571C>T (p.Arg2191Trp)
n.652C>T
c.997-18012C>T (n.997-18012C>T)
c.2659C>T
n.4264C>T
c.3095C>T
c.4522C>T (p.Arg1508Trp)
c.3668C>T
c.6733C>T (p.Arg2245Trp)
c.6688C>T (p.Arg2230Trp)
c.447-58048C>T
c.4062C>T
n.594C>T
c.6760C>T (p.Arg2254Trp)
n.1808C>T
n.322C>T
n.4245C>T
c.6718C>T (p.Arg2240Trp)
c.6691C>T (p.Arg2231Trp)
c.6643C>T (p.Arg2215Trp)
c.6694C>T (p.Arg2232Trp)
c.6763C>T (p.Arg2255Trp)
c.6730C>T (p.Arg2244Trp)
c.6727C>T (p.Arg2243Trp)
c.6652C>T (p.Arg2218Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788092G>ACA351640766ITPR1c.6772G>A (n.6772G>A)
c.6737G>A (p.Arg2246Gln)
c.6716G>A (p.Arg2239Gln)
c.6617G>A (p.Arg2206Gln)
c.6572G>A (p.Arg2191Gln)
n.653G>A
c.997-18011G>A (n.997-18011G>A)
c.2660G>A
n.4265G>A
c.3096G>A
c.4523G>A (p.Arg1508Gln)
c.3669G>A
c.6734G>A (p.Arg2245Gln)
c.6689G>A (p.Arg2230Gln)
c.447-58047G>A
c.4063G>A
n.595G>A
c.6761G>A (p.Arg2254Gln)
n.1809G>A
n.323G>A
n.4246G>A
c.6719G>A (p.Arg2240Gln)
c.6692G>A (p.Arg2231Gln)
c.6644G>A (p.Arg2215Gln)
c.6695G>A (p.Arg2232Gln)
c.6764G>A (p.Arg2255Gln)
c.6731G>A (p.Arg2244Gln)
c.6728G>A (p.Arg2243Gln)
c.6653G>A (p.Arg2218Gln)
 dbSNP gnomAD v2 gnomAD v4
3g.4788092G>CCA351640767ITPR1c.6772G>C (n.6772G>C)
c.6737G>C (p.Arg2246Pro)
c.6716G>C (p.Arg2239Pro)
c.6617G>C (p.Arg2206Pro)
c.6572G>C (p.Arg2191Pro)
n.653G>C
c.997-18011G>C (n.997-18011G>C)
c.2660G>C
n.4265G>C
c.3096G>C
c.4523G>C (p.Arg1508Pro)
c.3669G>C
c.6734G>C (p.Arg2245Pro)
c.6689G>C (p.Arg2230Pro)
c.447-58047G>C
c.4063G>C
n.595G>C
c.6761G>C (p.Arg2254Pro)
n.1809G>C
n.323G>C
n.4246G>C
c.6719G>C (p.Arg2240Pro)
c.6692G>C (p.Arg2231Pro)
c.6644G>C (p.Arg2215Pro)
c.6695G>C (p.Arg2232Pro)
c.6764G>C (p.Arg2255Pro)
c.6731G>C (p.Arg2244Pro)
c.6728G>C (p.Arg2243Pro)
c.6653G>C (p.Arg2218Pro)
 COSMIC COSMIC COSMIC
3g.4788092G=CA1342337455ITPR1c.6772G= (n.6772G=)
c.6737G= (p.Arg2246=)
c.6716G= (p.Arg2239=)
c.6617G= (p.Arg2206=)
c.6572G= (p.Arg2191=)
n.653G=
c.997-18011G= (n.997-18011G=)
c.2660G=
n.4265G=
c.3096G=
c.4523G= (p.Arg1508=)
c.3669G=
c.6734G= (p.Arg2245=)
c.6689G= (p.Arg2230=)
c.447-58047G=
c.4063G=
n.595G=
c.6761G= (p.Arg2254=)
n.1809G=
n.323G=
n.4246G=
c.6719G= (p.Arg2240=)
c.6692G= (p.Arg2231=)
c.6644G= (p.Arg2215=)
c.6695G= (p.Arg2232=)
c.6764G= (p.Arg2255=)
c.6731G= (p.Arg2244=)
c.6728G= (p.Arg2243=)
c.6653G= (p.Arg2218=)
3g.4788092G>TCA351640769ITPR1c.6772G>T (n.6772G>T)
c.6737G>T (p.Arg2246Leu)
c.6716G>T (p.Arg2239Leu)
c.6617G>T (p.Arg2206Leu)
c.6572G>T (p.Arg2191Leu)
n.653G>T
c.997-18011G>T (n.997-18011G>T)
c.2660G>T
n.4265G>T
c.3096G>T
c.4523G>T (p.Arg1508Leu)
c.3669G>T
c.6734G>T (p.Arg2245Leu)
c.6689G>T (p.Arg2230Leu)
c.447-58047G>T
c.4063G>T
n.595G>T
c.6761G>T (p.Arg2254Leu)
n.1809G>T
n.323G>T
n.4246G>T
c.6719G>T (p.Arg2240Leu)
c.6692G>T (p.Arg2231Leu)
c.6644G>T (p.Arg2215Leu)
c.6695G>T (p.Arg2232Leu)
c.6764G>T (p.Arg2255Leu)
c.6731G>T (p.Arg2244Leu)
c.6728G>T (p.Arg2243Leu)
c.6653G>T (p.Arg2218Leu)
3g.4788093G>ACA432323200ITPR1c.6773G>A (n.6773G>A)
c.6738G>A (p.Arg2246=)
c.6717G>A (p.Arg2239=)
c.6618G>A (p.Arg2206=)
c.6573G>A (p.Arg2191=)
n.654G>A
c.997-18010G>A (n.997-18010G>A)
c.2661G>A
n.4266G>A
c.3097G>A
c.4524G>A (p.Arg1508=)
c.3670G>A
c.6735G>A (p.Arg2245=)
c.6690G>A (p.Arg2230=)
c.447-58046G>A
c.4064G>A
n.596G>A
c.6762G>A (p.Arg2254=)
n.1810G>A
n.324G>A
n.4247G>A
c.6720G>A (p.Arg2240=)
c.6693G>A (p.Arg2231=)
c.6645G>A (p.Arg2215=)
c.6696G>A (p.Arg2232=)
c.6765G>A (p.Arg2255=)
c.6732G>A (p.Arg2244=)
c.6729G>A (p.Arg2243=)
c.6654G>A (p.Arg2218=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.4788093G>CCA432323203ITPR1c.6773G>C (n.6773G>C)
c.6738G>C (p.Arg2246=)
c.6717G>C (p.Arg2239=)
c.6618G>C (p.Arg2206=)
c.6573G>C (p.Arg2191=)
n.654G>C
c.997-18010G>C (n.997-18010G>C)
c.2661G>C
n.4266G>C
c.3097G>C
c.4524G>C (p.Arg1508=)
c.3670G>C
c.6735G>C (p.Arg2245=)
c.6690G>C (p.Arg2230=)
c.447-58046G>C
c.4064G>C
n.596G>C
c.6762G>C (p.Arg2254=)
n.1810G>C
n.324G>C
n.4247G>C
c.6720G>C (p.Arg2240=)
c.6693G>C (p.Arg2231=)
c.6645G>C (p.Arg2215=)
c.6696G>C (p.Arg2232=)
c.6765G>C (p.Arg2255=)
c.6732G>C (p.Arg2244=)
c.6729G>C (p.Arg2243=)
c.6654G>C (p.Arg2218=)
3g.4788093G>TCA432323202ITPR1c.6773G>T (n.6773G>T)
c.6738G>T (p.Arg2246=)
c.6717G>T (p.Arg2239=)
c.6618G>T (p.Arg2206=)
c.6573G>T (p.Arg2191=)
n.654G>T
c.997-18010G>T (n.997-18010G>T)
c.2661G>T
n.4266G>T
c.3097G>T
c.4524G>T (p.Arg1508=)
c.3670G>T
c.6735G>T (p.Arg2245=)
c.6690G>T (p.Arg2230=)
c.447-58046G>T
c.4064G>T
n.596G>T
c.6762G>T (p.Arg2254=)
n.1810G>T
n.324G>T
n.4247G>T
c.6720G>T (p.Arg2240=)
c.6693G>T (p.Arg2231=)
c.6645G>T (p.Arg2215=)
c.6696G>T (p.Arg2232=)
c.6765G>T (p.Arg2255=)
c.6732G>T (p.Arg2244=)
c.6729G>T (p.Arg2243=)
c.6654G>T (p.Arg2218=)
 gnomAD v4
3g.4788094T>ACA351640772ITPR1c.6774T>A (n.6774T>A)
c.6739T>A (p.Ser2247Thr)
c.6718T>A (p.Ser2240Thr)
c.6619T>A (p.Ser2207Thr)
c.6574T>A (p.Ser2192Thr)
n.655T>A
c.997-18009T>A (n.997-18009T>A)
c.2662T>A
n.4267T>A
c.3098T>A
c.4525T>A (p.Ser1509Thr)
c.3671T>A
c.6736T>A (p.Ser2246Thr)
c.6691T>A (p.Ser2231Thr)
c.447-58045T>A
c.4065T>A
n.597T>A
c.6763T>A (p.Ser2255Thr)
n.1811T>A
n.325T>A
n.4248T>A
c.6721T>A (p.Ser2241Thr)
c.6694T>A (p.Ser2232Thr)
c.6646T>A (p.Ser2216Thr)
c.6697T>A (p.Ser2233Thr)
c.6766T>A (p.Ser2256Thr)
c.6733T>A (p.Ser2245Thr)
c.6730T>A (p.Ser2244Thr)
c.6655T>A (p.Ser2219Thr)
3g.4788094T>CCA351640773ITPR1c.6774T>C (n.6774T>C)
c.6739T>C (p.Ser2247Pro)
c.6718T>C (p.Ser2240Pro)
c.6619T>C (p.Ser2207Pro)
c.6574T>C (p.Ser2192Pro)
n.655T>C
c.997-18009T>C (n.997-18009T>C)
c.2662T>C
n.4267T>C
c.3098T>C
c.4525T>C (p.Ser1509Pro)
c.3671T>C
c.6736T>C (p.Ser2246Pro)
c.6691T>C (p.Ser2231Pro)
c.447-58045T>C
c.4065T>C
n.597T>C
c.6763T>C (p.Ser2255Pro)
n.1811T>C
n.325T>C
n.4248T>C
c.6721T>C (p.Ser2241Pro)
c.6694T>C (p.Ser2232Pro)
c.6646T>C (p.Ser2216Pro)
c.6697T>C (p.Ser2233Pro)
c.6766T>C (p.Ser2256Pro)
c.6733T>C (p.Ser2245Pro)
c.6730T>C (p.Ser2244Pro)
c.6655T>C (p.Ser2219Pro)
3g.4788094T>GCA351640775ITPR1c.6774T>G (n.6774T>G)
c.6739T>G (p.Ser2247Ala)
c.6718T>G (p.Ser2240Ala)
c.6619T>G (p.Ser2207Ala)
c.6574T>G (p.Ser2192Ala)
n.655T>G
c.997-18009T>G (n.997-18009T>G)
c.2662T>G
n.4267T>G
c.3098T>G
c.4525T>G (p.Ser1509Ala)
c.3671T>G
c.6736T>G (p.Ser2246Ala)
c.6691T>G (p.Ser2231Ala)
c.447-58045T>G
c.4065T>G
n.597T>G
c.6763T>G (p.Ser2255Ala)
n.1811T>G
n.325T>G
n.4248T>G
c.6721T>G (p.Ser2241Ala)
c.6694T>G (p.Ser2232Ala)
c.6646T>G (p.Ser2216Ala)
c.6697T>G (p.Ser2233Ala)
c.6766T>G (p.Ser2256Ala)
c.6733T>G (p.Ser2245Ala)
c.6730T>G (p.Ser2244Ala)
c.6655T>G (p.Ser2219Ala)
3g.4788095C>ACA351640780ITPR1c.6775C>A (n.6775C>A)
c.6740C>A (p.Ser2247Tyr)
c.6719C>A (p.Ser2240Tyr)
c.6620C>A (p.Ser2207Tyr)
c.6575C>A (p.Ser2192Tyr)
n.656C>A
c.997-18008C>A (n.997-18008C>A)
c.2663C>A
n.4268C>A
c.3099C>A
c.4526C>A (p.Ser1509Tyr)
c.3672C>A
c.6737C>A (p.Ser2246Tyr)
c.6692C>A (p.Ser2231Tyr)
c.447-58044C>A
c.4066C>A
n.598C>A
c.6764C>A (p.Ser2255Tyr)
n.1812C>A
n.326C>A
n.4249C>A
c.6722C>A (p.Ser2241Tyr)
c.6695C>A (p.Ser2232Tyr)
c.6647C>A (p.Ser2216Tyr)
c.6698C>A (p.Ser2233Tyr)
c.6767C>A (p.Ser2256Tyr)
c.6734C>A (p.Ser2245Tyr)
c.6731C>A (p.Ser2244Tyr)
c.6656C>A (p.Ser2219Tyr)
 gnomAD v4
3g.4788095C>GCA351640779ITPR1c.6775C>G (n.6775C>G)
c.6740C>G (p.Ser2247Cys)
c.6719C>G (p.Ser2240Cys)
c.6620C>G (p.Ser2207Cys)
c.6575C>G (p.Ser2192Cys)
n.656C>G
c.997-18008C>G (n.997-18008C>G)
c.2663C>G
n.4268C>G
c.3099C>G
c.4526C>G (p.Ser1509Cys)
c.3672C>G
c.6737C>G (p.Ser2246Cys)
c.6692C>G (p.Ser2231Cys)
c.447-58044C>G
c.4066C>G
n.598C>G
c.6764C>G (p.Ser2255Cys)
n.1812C>G
n.326C>G
n.4249C>G
c.6722C>G (p.Ser2241Cys)
c.6695C>G (p.Ser2232Cys)
c.6647C>G (p.Ser2216Cys)
c.6698C>G (p.Ser2233Cys)
c.6767C>G (p.Ser2256Cys)
c.6734C>G (p.Ser2245Cys)
c.6731C>G (p.Ser2244Cys)
c.6656C>G (p.Ser2219Cys)
3g.4788095C>TCA351640778ITPR1c.6775C>T (n.6775C>T)
c.6740C>T (p.Ser2247Phe)
c.6719C>T (p.Ser2240Phe)
c.6620C>T (p.Ser2207Phe)
c.6575C>T (p.Ser2192Phe)
n.656C>T
c.997-18008C>T (n.997-18008C>T)
c.2663C>T
n.4268C>T
c.3099C>T
c.4526C>T (p.Ser1509Phe)
c.3672C>T
c.6737C>T (p.Ser2246Phe)
c.6692C>T (p.Ser2231Phe)
c.447-58044C>T
c.4066C>T
n.598C>T
c.6764C>T (p.Ser2255Phe)
n.1812C>T
n.326C>T
n.4249C>T
c.6722C>T (p.Ser2241Phe)
c.6695C>T (p.Ser2232Phe)
c.6647C>T (p.Ser2216Phe)
c.6698C>T (p.Ser2233Phe)
c.6767C>T (p.Ser2256Phe)
c.6734C>T (p.Ser2245Phe)
c.6731C>T (p.Ser2244Phe)
c.6656C>T (p.Ser2219Phe)
3g.4788096T>ACA432323207ITPR1c.6776T>A (n.6776T>A)
c.6741T>A (p.Ser2247=)
c.6720T>A (p.Ser2240=)
c.6621T>A (p.Ser2207=)
c.6576T>A (p.Ser2192=)
n.657T>A
c.997-18007T>A (n.997-18007T>A)
c.2664T>A
n.4269T>A
c.3100T>A
c.4527T>A (p.Ser1509=)
c.3673T>A
c.6738T>A (p.Ser2246=)
c.6693T>A (p.Ser2231=)
c.447-58043T>A
c.4067T>A
n.599T>A
c.6765T>A (p.Ser2255=)
n.1813T>A
n.327T>A
n.4250T>A
c.6723T>A (p.Ser2241=)
c.6696T>A (p.Ser2232=)
c.6648T>A (p.Ser2216=)
c.6699T>A (p.Ser2233=)
c.6768T>A (p.Ser2256=)
c.6735T>A (p.Ser2245=)
c.6732T>A (p.Ser2244=)
c.6657T>A (p.Ser2219=)
3g.4788096T>CCA432323208ITPR1c.6776T>C (n.6776T>C)
c.6741T>C (p.Ser2247=)
c.6720T>C (p.Ser2240=)
c.6621T>C (p.Ser2207=)
c.6576T>C (p.Ser2192=)
n.657T>C
c.997-18007T>C (n.997-18007T>C)
c.2664T>C
n.4269T>C
c.3100T>C
c.4527T>C (p.Ser1509=)
c.3673T>C
c.6738T>C (p.Ser2246=)
c.6693T>C (p.Ser2231=)
c.447-58043T>C
c.4067T>C
n.599T>C
c.6765T>C (p.Ser2255=)
n.1813T>C
n.327T>C
n.4250T>C
c.6723T>C (p.Ser2241=)
c.6696T>C (p.Ser2232=)
c.6648T>C (p.Ser2216=)
c.6699T>C (p.Ser2233=)
c.6768T>C (p.Ser2256=)
c.6735T>C (p.Ser2245=)
c.6732T>C (p.Ser2244=)
c.6657T>C (p.Ser2219=)
 gnomAD v4
3g.4788096T>GCA432323209ITPR1c.6776T>G (n.6776T>G)
c.6741T>G (p.Ser2247=)
c.6720T>G (p.Ser2240=)
c.6621T>G (p.Ser2207=)
c.6576T>G (p.Ser2192=)
n.657T>G
c.997-18007T>G (n.997-18007T>G)
c.2664T>G
n.4269T>G
c.3100T>G
c.4527T>G (p.Ser1509=)
c.3673T>G
c.6738T>G (p.Ser2246=)
c.6693T>G (p.Ser2231=)
c.447-58043T>G
c.4067T>G
n.599T>G
c.6765T>G (p.Ser2255=)
n.1813T>G
n.327T>G
n.4250T>G
c.6723T>G (p.Ser2241=)
c.6696T>G (p.Ser2232=)
c.6648T>G (p.Ser2216=)
c.6699T>G (p.Ser2233=)
c.6768T>G (p.Ser2256=)
c.6735T>G (p.Ser2245=)
c.6732T>G (p.Ser2244=)
c.6657T>G (p.Ser2219=)
3g.4788097G>ACA351640783ITPR1c.6777G>A (n.6777G>A)
c.6742G>A (p.Glu2248Lys)
c.6721G>A (p.Glu2241Lys)
c.6622G>A (p.Glu2208Lys)
c.6577G>A (p.Glu2193Lys)
n.658G>A
c.997-18006G>A (n.997-18006G>A)
c.2665G>A
n.4270G>A
c.3101G>A
c.4528G>A (p.Glu1510Lys)
c.3674G>A
c.6739G>A (p.Glu2247Lys)
c.6694G>A (p.Glu2232Lys)
c.447-58042G>A
c.4068G>A
n.600G>A
c.6766G>A (p.Glu2256Lys)
n.1814G>A
n.328G>A
n.4251G>A
c.6724G>A (p.Glu2242Lys)
c.6697G>A (p.Glu2233Lys)
c.6649G>A (p.Glu2217Lys)
c.6700G>A (p.Glu2234Lys)
c.6769G>A (p.Glu2257Lys)
c.6736G>A (p.Glu2246Lys)
c.6733G>A (p.Glu2245Lys)
c.6658G>A (p.Glu2220Lys)
3g.4788097G>CCA351640784ITPR1c.6777G>C (n.6777G>C)
c.6742G>C (p.Glu2248Gln)
c.6721G>C (p.Glu2241Gln)
c.6622G>C (p.Glu2208Gln)
c.6577G>C (p.Glu2193Gln)
n.658G>C
c.997-18006G>C (n.997-18006G>C)
c.2665G>C
n.4270G>C
c.3101G>C
c.4528G>C (p.Glu1510Gln)
c.3674G>C
c.6739G>C (p.Glu2247Gln)
c.6694G>C (p.Glu2232Gln)
c.447-58042G>C
c.4068G>C
n.600G>C
c.6766G>C (p.Glu2256Gln)
n.1814G>C
n.328G>C
n.4251G>C
c.6724G>C (p.Glu2242Gln)
c.6697G>C (p.Glu2233Gln)
c.6649G>C (p.Glu2217Gln)
c.6700G>C (p.Glu2234Gln)
c.6769G>C (p.Glu2257Gln)
c.6736G>C (p.Glu2246Gln)
c.6733G>C (p.Glu2245Gln)
c.6658G>C (p.Glu2220Gln)
3g.4788097G>TCA351640786ITPR1c.6777G>T (n.6777G>T)
c.6742G>T (p.Glu2248Ter)
c.6721G>T (p.Glu2241Ter)
c.6622G>T (p.Glu2208Ter)
c.6577G>T (p.Glu2193Ter)
n.658G>T
c.997-18006G>T (n.997-18006G>T)
c.2665G>T
n.4270G>T
c.3101G>T
c.4528G>T (p.Glu1510Ter)
c.3674G>T
c.6739G>T (p.Glu2247Ter)
c.6694G>T (p.Glu2232Ter)
c.447-58042G>T
c.4068G>T
n.600G>T
c.6766G>T (p.Glu2256Ter)
n.1814G>T
n.328G>T
n.4251G>T
c.6724G>T (p.Glu2242Ter)
c.6697G>T (p.Glu2233Ter)
c.6649G>T (p.Glu2217Ter)
c.6700G>T (p.Glu2234Ter)
c.6769G>T (p.Glu2257Ter)
c.6736G>T (p.Glu2246Ter)
c.6733G>T (p.Glu2245Ter)
c.6658G>T (p.Glu2220Ter)
3g.4788098A>CCA351640788ITPR1c.6778A>C (n.6778A>C)
c.6743A>C (p.Glu2248Ala)
c.6722A>C (p.Glu2241Ala)
c.6623A>C (p.Glu2208Ala)
c.6578A>C (p.Glu2193Ala)
n.659A>C
c.997-18005A>C (n.997-18005A>C)
c.2666A>C
n.4271A>C
c.3102A>C
c.4529A>C (p.Glu1510Ala)
c.3675A>C
c.6740A>C (p.Glu2247Ala)
c.6695A>C (p.Glu2232Ala)
c.447-58041A>C
c.4069A>C
n.601A>C
c.6767A>C (p.Glu2256Ala)
n.1815A>C
n.329A>C
n.4252A>C
c.6725A>C (p.Glu2242Ala)
c.6698A>C (p.Glu2233Ala)
c.6650A>C (p.Glu2217Ala)
c.6701A>C (p.Glu2234Ala)
c.6770A>C (p.Glu2257Ala)
c.6737A>C (p.Glu2246Ala)
c.6734A>C (p.Glu2245Ala)
c.6659A>C (p.Glu2220Ala)
3g.4788098A>GCA351640789ITPR1c.6778A>G (n.6778A>G)
c.6743A>G (p.Glu2248Gly)
c.6722A>G (p.Glu2241Gly)
c.6623A>G (p.Glu2208Gly)
c.6578A>G (p.Glu2193Gly)
n.659A>G
c.997-18005A>G (n.997-18005A>G)
c.2666A>G
n.4271A>G
c.3102A>G
c.4529A>G (p.Glu1510Gly)
c.3675A>G
c.6740A>G (p.Glu2247Gly)
c.6695A>G (p.Glu2232Gly)
c.447-58041A>G
c.4069A>G
n.601A>G
c.6767A>G (p.Glu2256Gly)
n.1815A>G
n.329A>G
n.4252A>G
c.6725A>G (p.Glu2242Gly)
c.6698A>G (p.Glu2233Gly)
c.6650A>G (p.Glu2217Gly)
c.6701A>G (p.Glu2234Gly)
c.6770A>G (p.Glu2257Gly)
c.6737A>G (p.Glu2246Gly)
c.6734A>G (p.Glu2245Gly)
c.6659A>G (p.Glu2220Gly)
 gnomAD v4
3g.4788098A>TCA351640791ITPR1c.6778A>T (n.6778A>T)
c.6743A>T (p.Glu2248Val)
c.6722A>T (p.Glu2241Val)
c.6623A>T (p.Glu2208Val)
c.6578A>T (p.Glu2193Val)
n.659A>T
c.997-18005A>T (n.997-18005A>T)
c.2666A>T
n.4271A>T
c.3102A>T
c.4529A>T (p.Glu1510Val)
c.3675A>T
c.6740A>T (p.Glu2247Val)
c.6695A>T (p.Glu2232Val)
c.447-58041A>T
c.4069A>T
n.601A>T
c.6767A>T (p.Glu2256Val)
n.1815A>T
n.329A>T
n.4252A>T
c.6725A>T (p.Glu2242Val)
c.6698A>T (p.Glu2233Val)
c.6650A>T (p.Glu2217Val)
c.6701A>T (p.Glu2234Val)
c.6770A>T (p.Glu2257Val)
c.6737A>T (p.Glu2246Val)
c.6734A>T (p.Glu2245Val)
c.6659A>T (p.Glu2220Val)
3g.4788099A>CCA351640795ITPR1c.6779A>C (n.6779A>C)
c.6744A>C (p.Glu2248Asp)
c.6723A>C (p.Glu2241Asp)
c.6624A>C (p.Glu2208Asp)
c.6579A>C (p.Glu2193Asp)
n.660A>C
c.997-18004A>C (n.997-18004A>C)
c.2667A>C
n.4272A>C
c.3103A>C
c.4530A>C (p.Glu1510Asp)
c.3676A>C
c.6741A>C (p.Glu2247Asp)
c.6696A>C (p.Glu2232Asp)
c.447-58040A>C
c.4070A>C
n.602A>C
c.6768A>C (p.Glu2256Asp)
n.1816A>C
n.330A>C
n.4253A>C
c.6726A>C (p.Glu2242Asp)
c.6699A>C (p.Glu2233Asp)
c.6651A>C (p.Glu2217Asp)
c.6702A>C (p.Glu2234Asp)
c.6771A>C (p.Glu2257Asp)
c.6738A>C (p.Glu2246Asp)
c.6735A>C (p.Glu2245Asp)
c.6660A>C (p.Glu2220Asp)
3g.4788099A>GCA432323213ITPR1c.6779A>G (n.6779A>G)
c.6744A>G (p.Glu2248=)
c.6723A>G (p.Glu2241=)
c.6624A>G (p.Glu2208=)
c.6579A>G (p.Glu2193=)
n.660A>G
c.997-18004A>G (n.997-18004A>G)
c.2667A>G
n.4272A>G
c.3103A>G
c.4530A>G (p.Glu1510=)
c.3676A>G
c.6741A>G (p.Glu2247=)
c.6696A>G (p.Glu2232=)
c.447-58040A>G
c.4070A>G
n.602A>G
c.6768A>G (p.Glu2256=)
n.1816A>G
n.330A>G
n.4253A>G
c.6726A>G (p.Glu2242=)
c.6699A>G (p.Glu2233=)
c.6651A>G (p.Glu2217=)
c.6702A>G (p.Glu2234=)
c.6771A>G (p.Glu2257=)
c.6738A>G (p.Glu2246=)
c.6735A>G (p.Glu2245=)
c.6660A>G (p.Glu2220=)
3g.4788099A>TCA351640793ITPR1c.6779A>T (n.6779A>T)
c.6744A>T (p.Glu2248Asp)
c.6723A>T (p.Glu2241Asp)
c.6624A>T (p.Glu2208Asp)
c.6579A>T (p.Glu2193Asp)
n.660A>T
c.997-18004A>T (n.997-18004A>T)
c.2667A>T
n.4272A>T
c.3103A>T
c.4530A>T (p.Glu1510Asp)
c.3676A>T
c.6741A>T (p.Glu2247Asp)
c.6696A>T (p.Glu2232Asp)
c.447-58040A>T
c.4070A>T
n.602A>T
c.6768A>T (p.Glu2256Asp)
n.1816A>T
n.330A>T
n.4253A>T
c.6726A>T (p.Glu2242Asp)
c.6699A>T (p.Glu2233Asp)
c.6651A>T (p.Glu2217Asp)
c.6702A>T (p.Glu2234Asp)
c.6771A>T (p.Glu2257Asp)
c.6738A>T (p.Glu2246Asp)
c.6735A>T (p.Glu2245Asp)
c.6660A>T (p.Glu2220Asp)
3g.4788100G>ACA351640797ITPR1c.6780G>A (n.6780G>A)
c.6745G>A (p.Asp2249Asn)
c.6724G>A (p.Asp2242Asn)
c.6625G>A (p.Asp2209Asn)
c.6580G>A (p.Asp2194Asn)
n.661G>A
c.997-18003G>A (n.997-18003G>A)
c.2668G>A
n.4273G>A
c.3104G>A
c.4531G>A (p.Asp1511Asn)
c.3677G>A
c.6742G>A (p.Asp2248Asn)
c.6697G>A (p.Asp2233Asn)
c.447-58039G>A
c.4071G>A
n.603G>A
c.6769G>A (p.Asp2257Asn)
n.1817G>A
n.331G>A
n.4254G>A
c.6727G>A (p.Asp2243Asn)
c.6700G>A (p.Asp2234Asn)
c.6652G>A (p.Asp2218Asn)
c.6703G>A (p.Asp2235Asn)
c.6772G>A (p.Asp2258Asn)
c.6739G>A (p.Asp2247Asn)
c.6736G>A (p.Asp2246Asn)
c.6661G>A (p.Asp2221Asn)
 dbSNP gnomAD v3 gnomAD v4
3g.4788100G>CCA351640799ITPR1c.6780G>C (n.6780G>C)
c.6745G>C (p.Asp2249His)
c.6724G>C (p.Asp2242His)
c.6625G>C (p.Asp2209His)
c.6580G>C (p.Asp2194His)
n.661G>C
c.997-18003G>C (n.997-18003G>C)
c.2668G>C
n.4273G>C
c.3104G>C
c.4531G>C (p.Asp1511His)
c.3677G>C
c.6742G>C (p.Asp2248His)
c.6697G>C (p.Asp2233His)
c.447-58039G>C
c.4071G>C
n.603G>C
c.6769G>C (p.Asp2257His)
n.1817G>C
n.331G>C
n.4254G>C
c.6727G>C (p.Asp2243His)
c.6700G>C (p.Asp2234His)
c.6652G>C (p.Asp2218His)
c.6703G>C (p.Asp2235His)
c.6772G>C (p.Asp2258His)
c.6739G>C (p.Asp2247His)
c.6736G>C (p.Asp2246His)
c.6661G>C (p.Asp2221His)
 dbSNP
3g.4788100G=CA1342337456ITPR1c.6780G= (n.6780G=)
c.6745G= (p.Asp2249=)
c.6724G= (p.Asp2242=)
c.6625G= (p.Asp2209=)
c.6580G= (p.Asp2194=)
n.661G=
c.997-18003G= (n.997-18003G=)
c.2668G=
n.4273G=
c.3104G=
c.4531G= (p.Asp1511=)
c.3677G=
c.6742G= (p.Asp2248=)
c.6697G= (p.Asp2233=)
c.447-58039G=
c.4071G=
n.603G=
c.6769G= (p.Asp2257=)
n.1817G=
n.331G=
n.4254G=
c.6727G= (p.Asp2243=)
c.6700G= (p.Asp2234=)
c.6652G= (p.Asp2218=)
c.6703G= (p.Asp2235=)
c.6772G= (p.Asp2258=)
c.6739G= (p.Asp2247=)
c.6736G= (p.Asp2246=)
c.6661G= (p.Asp2221=)
3g.4788100G>TCA351640801ITPR1c.6780G>T (n.6780G>T)
c.6745G>T (p.Asp2249Tyr)
c.6724G>T (p.Asp2242Tyr)
c.6625G>T (p.Asp2209Tyr)
c.6580G>T (p.Asp2194Tyr)
n.661G>T
c.997-18003G>T (n.997-18003G>T)
c.2668G>T
n.4273G>T
c.3104G>T
c.4531G>T (p.Asp1511Tyr)
c.3677G>T
c.6742G>T (p.Asp2248Tyr)
c.6697G>T (p.Asp2233Tyr)
c.447-58039G>T
c.4071G>T
n.603G>T
c.6769G>T (p.Asp2257Tyr)
n.1817G>T
n.331G>T
n.4254G>T
c.6727G>T (p.Asp2243Tyr)
c.6700G>T (p.Asp2234Tyr)
c.6652G>T (p.Asp2218Tyr)
c.6703G>T (p.Asp2235Tyr)
c.6772G>T (p.Asp2258Tyr)
c.6739G>T (p.Asp2247Tyr)
c.6736G>T (p.Asp2246Tyr)
c.6661G>T (p.Asp2221Tyr)
3g.4788101A>CCA351640802ITPR1c.6781A>C (n.6781A>C)
c.6746A>C (p.Asp2249Ala)
c.6725A>C (p.Asp2242Ala)
c.6626A>C (p.Asp2209Ala)
c.6581A>C (p.Asp2194Ala)
n.662A>C
c.997-18002A>C (n.997-18002A>C)
c.2669A>C
n.4274A>C
c.3105A>C
c.4532A>C (p.Asp1511Ala)
c.3678A>C
c.6743A>C (p.Asp2248Ala)
c.6698A>C (p.Asp2233Ala)
c.447-58038A>C
c.4072A>C
n.604A>C
c.6770A>C (p.Asp2257Ala)
n.1818A>C
n.332A>C
n.4255A>C
c.6728A>C (p.Asp2243Ala)
c.6701A>C (p.Asp2234Ala)
c.6653A>C (p.Asp2218Ala)
c.6704A>C (p.Asp2235Ala)
c.6773A>C (p.Asp2258Ala)
c.6740A>C (p.Asp2247Ala)
c.6737A>C (p.Asp2246Ala)
c.6662A>C (p.Asp2221Ala)
 gnomAD v4
3g.4788101A>GCA351640803ITPR1c.6781A>G (n.6781A>G)
c.6746A>G (p.Asp2249Gly)
c.6725A>G (p.Asp2242Gly)
c.6626A>G (p.Asp2209Gly)
c.6581A>G (p.Asp2194Gly)
n.662A>G
c.997-18002A>G (n.997-18002A>G)
c.2669A>G
n.4274A>G
c.3105A>G
c.4532A>G (p.Asp1511Gly)
c.3678A>G
c.6743A>G (p.Asp2248Gly)
c.6698A>G (p.Asp2233Gly)
c.447-58038A>G
c.4072A>G
n.604A>G
c.6770A>G (p.Asp2257Gly)
n.1818A>G
n.332A>G
n.4255A>G
c.6728A>G (p.Asp2243Gly)
c.6701A>G (p.Asp2234Gly)
c.6653A>G (p.Asp2218Gly)
c.6704A>G (p.Asp2235Gly)
c.6773A>G (p.Asp2258Gly)
c.6740A>G (p.Asp2247Gly)
c.6737A>G (p.Asp2246Gly)
c.6662A>G (p.Asp2221Gly)
3g.4788101A>TCA351640804ITPR1c.6781A>T (n.6781A>T)
c.6746A>T (p.Asp2249Val)
c.6725A>T (p.Asp2242Val)
c.6626A>T (p.Asp2209Val)
c.6581A>T (p.Asp2194Val)
n.662A>T
c.997-18002A>T (n.997-18002A>T)
c.2669A>T
n.4274A>T
c.3105A>T
c.4532A>T (p.Asp1511Val)
c.3678A>T
c.6743A>T (p.Asp2248Val)
c.6698A>T (p.Asp2233Val)
c.447-58038A>T
c.4072A>T
n.604A>T
c.6770A>T (p.Asp2257Val)
n.1818A>T
n.332A>T
n.4255A>T
c.6728A>T (p.Asp2243Val)
c.6701A>T (p.Asp2234Val)
c.6653A>T (p.Asp2218Val)
c.6704A>T (p.Asp2235Val)
c.6773A>T (p.Asp2258Val)
c.6740A>T (p.Asp2247Val)
c.6737A>T (p.Asp2246Val)
c.6662A>T (p.Asp2221Val)
3g.4788102C>ACA351640807ITPR1c.6782C>A (n.6782C>A)
c.6747C>A (p.Asp2249Glu)
c.6726C>A (p.Asp2242Glu)
c.6627C>A (p.Asp2209Glu)
c.6582C>A (p.Asp2194Glu)
n.663C>A
c.997-18001C>A (n.997-18001C>A)
c.2670C>A
n.4275C>A
c.3106C>A
c.4533C>A (p.Asp1511Glu)
c.3679C>A
c.6744C>A (p.Asp2248Glu)
c.6699C>A (p.Asp2233Glu)
c.447-58037C>A
c.4073C>A
n.605C>A
c.6771C>A (p.Asp2257Glu)
n.1819C>A
n.333C>A
n.4256C>A
c.6729C>A (p.Asp2243Glu)
c.6702C>A (p.Asp2234Glu)
c.6654C>A (p.Asp2218Glu)
c.6705C>A (p.Asp2235Glu)
c.6774C>A (p.Asp2258Glu)
c.6741C>A (p.Asp2247Glu)
c.6738C>A (p.Asp2246Glu)
c.6663C>A (p.Asp2221Glu)
3g.4788102C=CA1342337457ITPR1c.6782C= (n.6782C=)
c.6747C= (p.Asp2249=)
c.6726C= (p.Asp2242=)
c.6627C= (p.Asp2209=)
c.6582C= (p.Asp2194=)
n.663C=
c.997-18001C= (n.997-18001C=)
c.2670C=
n.4275C=
c.3106C=
c.4533C= (p.Asp1511=)
c.3679C=
c.6744C= (p.Asp2248=)
c.6699C= (p.Asp2233=)
c.447-58037C=
c.4073C=
n.605C=
c.6771C= (p.Asp2257=)
n.1819C=
n.333C=
n.4256C=
c.6729C= (p.Asp2243=)
c.6702C= (p.Asp2234=)
c.6654C= (p.Asp2218=)
c.6705C= (p.Asp2235=)
c.6774C= (p.Asp2258=)
c.6741C= (p.Asp2247=)
c.6738C= (p.Asp2246=)
c.6663C= (p.Asp2221=)
3g.4788102C>GCA351640809ITPR1c.6782C>G (n.6782C>G)
c.6747C>G (p.Asp2249Glu)
c.6726C>G (p.Asp2242Glu)
c.6627C>G (p.Asp2209Glu)
c.6582C>G (p.Asp2194Glu)
n.663C>G
c.997-18001C>G (n.997-18001C>G)
c.2670C>G
n.4275C>G
c.3106C>G
c.4533C>G (p.Asp1511Glu)
c.3679C>G
c.6744C>G (p.Asp2248Glu)
c.6699C>G (p.Asp2233Glu)
c.447-58037C>G
c.4073C>G
n.605C>G
c.6771C>G (p.Asp2257Glu)
n.1819C>G
n.333C>G
n.4256C>G
c.6729C>G (p.Asp2243Glu)
c.6702C>G (p.Asp2234Glu)
c.6654C>G (p.Asp2218Glu)
c.6705C>G (p.Asp2235Glu)
c.6774C>G (p.Asp2258Glu)
c.6741C>G (p.Asp2247Glu)
c.6738C>G (p.Asp2246Glu)
c.6663C>G (p.Asp2221Glu)
 ClinVar dbSNP
3g.4788102C>TCA2232662ITPR1c.6782C>T (n.6782C>T)
c.6747C>T (p.Asp2249=)
c.6726C>T (p.Asp2242=)
c.6627C>T (p.Asp2209=)
c.6582C>T (p.Asp2194=)
n.663C>T
c.997-18001C>T (n.997-18001C>T)
c.2670C>T
n.4275C>T
c.3106C>T
c.4533C>T (p.Asp1511=)
c.3679C>T
c.6744C>T (p.Asp2248=)
c.6699C>T (p.Asp2233=)
c.447-58037C>T
c.4073C>T
n.605C>T
c.6771C>T (p.Asp2257=)
n.1819C>T
n.333C>T
n.4256C>T
c.6729C>T (p.Asp2243=)
c.6702C>T (p.Asp2234=)
c.6654C>T (p.Asp2218=)
c.6705C>T (p.Asp2235=)
c.6774C>T (p.Asp2258=)
c.6741C>T (p.Asp2247=)
c.6738C>T (p.Asp2246=)
c.6663C>T (p.Asp2221=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788103C>ACA2232663ITPR1c.6783C>A (n.6783C>A)
c.6748C>A (p.Leu2250Ile)
c.6727C>A (p.Leu2243Ile)
c.6628C>A (p.Leu2210Ile)
c.6583C>A (p.Leu2195Ile)
n.664C>A
c.997-18000C>A (n.997-18000C>A)
c.2671C>A
n.4276C>A
c.3107C>A
c.4534C>A (p.Leu1512Ile)
c.3680C>A
c.6745C>A (p.Leu2249Ile)
c.6700C>A (p.Leu2234Ile)
c.447-58036C>A
c.4074C>A
n.606C>A
c.6772C>A (p.Leu2258Ile)
n.1820C>A
n.334C>A
n.4257C>A
c.6730C>A (p.Leu2244Ile)
c.6703C>A (p.Leu2235Ile)
c.6655C>A (p.Leu2219Ile)
c.6706C>A (p.Leu2236Ile)
c.6775C>A (p.Leu2259Ile)
c.6742C>A (p.Leu2248Ile)
c.6739C>A (p.Leu2247Ile)
c.6664C>A (p.Leu2222Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4788103C=CA1342337458ITPR1c.6783C= (n.6783C=)
c.6748C= (p.Leu2250=)
c.6727C= (p.Leu2243=)
c.6628C= (p.Leu2210=)
c.6583C= (p.Leu2195=)
n.664C=
c.997-18000C= (n.997-18000C=)
c.2671C=
n.4276C=
c.3107C=
c.4534C= (p.Leu1512=)
c.3680C=
c.6745C= (p.Leu2249=)
c.6700C= (p.Leu2234=)
c.447-58036C=
c.4074C=
n.606C=
c.6772C= (p.Leu2258=)
n.1820C=
n.334C=
n.4257C=
c.6730C= (p.Leu2244=)
c.6703C= (p.Leu2235=)
c.6655C= (p.Leu2219=)
c.6706C= (p.Leu2236=)
c.6775C= (p.Leu2259=)
c.6742C= (p.Leu2248=)
c.6739C= (p.Leu2247=)
c.6664C= (p.Leu2222=)
3g.4788103C>GCA351640812ITPR1c.6783C>G (n.6783C>G)
c.6748C>G (p.Leu2250Val)
c.6727C>G (p.Leu2243Val)
c.6628C>G (p.Leu2210Val)
c.6583C>G (p.Leu2195Val)
n.664C>G
c.997-18000C>G (n.997-18000C>G)
c.2671C>G
n.4276C>G
c.3107C>G
c.4534C>G (p.Leu1512Val)
c.3680C>G
c.6745C>G (p.Leu2249Val)
c.6700C>G (p.Leu2234Val)
c.447-58036C>G
c.4074C>G
n.606C>G
c.6772C>G (p.Leu2258Val)
n.1820C>G
n.334C>G
n.4257C>G
c.6730C>G (p.Leu2244Val)
c.6703C>G (p.Leu2235Val)
c.6655C>G (p.Leu2219Val)
c.6706C>G (p.Leu2236Val)
c.6775C>G (p.Leu2259Val)
c.6742C>G (p.Leu2248Val)
c.6739C>G (p.Leu2247Val)
c.6664C>G (p.Leu2222Val)
3g.4788103C>TCA2232664ITPR1c.6783C>T (n.6783C>T)
c.6748C>T (p.Leu2250Phe)
c.6727C>T (p.Leu2243Phe)
c.6628C>T (p.Leu2210Phe)
c.6583C>T (p.Leu2195Phe)
n.664C>T
c.997-18000C>T (n.997-18000C>T)
c.2671C>T
n.4276C>T
c.3107C>T
c.4534C>T (p.Leu1512Phe)
c.3680C>T
c.6745C>T (p.Leu2249Phe)
c.6700C>T (p.Leu2234Phe)
c.447-58036C>T
c.4074C>T
n.606C>T
c.6772C>T (p.Leu2258Phe)
n.1820C>T
n.334C>T
n.4257C>T
c.6730C>T (p.Leu2244Phe)
c.6703C>T (p.Leu2235Phe)
c.6655C>T (p.Leu2219Phe)
c.6706C>T (p.Leu2236Phe)
c.6775C>T (p.Leu2259Phe)
c.6742C>T (p.Leu2248Phe)
c.6739C>T (p.Leu2247Phe)
c.6664C>T (p.Leu2222Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4788104T>ACA351640815ITPR1c.6784T>A (n.6784T>A)
c.6749T>A (p.Leu2250His)
c.6728T>A (p.Leu2243His)
c.6629T>A (p.Leu2210His)
c.6584T>A (p.Leu2195His)
n.665T>A
c.997-17999T>A (n.997-17999T>A)
c.2672T>A
n.4277T>A
c.3108T>A
c.4535T>A (p.Leu1512His)
c.3681T>A
c.6746T>A (p.Leu2249His)
c.6701T>A (p.Leu2234His)
c.447-58035T>A
c.4075T>A
n.607T>A
c.6773T>A (p.Leu2258His)
n.1821T>A
n.335T>A
n.4258T>A
c.6731T>A (p.Leu2244His)
c.6704T>A (p.Leu2235His)
c.6656T>A (p.Leu2219His)
c.6707T>A (p.Leu2236His)
c.6776T>A (p.Leu2259His)
c.6743T>A (p.Leu2248His)
c.6740T>A (p.Leu2247His)
c.6665T>A (p.Leu2222His)
3g.4788104T>CCA351640817ITPR1c.6784T>C (n.6784T>C)
c.6749T>C (p.Leu2250Pro)
c.6728T>C (p.Leu2243Pro)
c.6629T>C (p.Leu2210Pro)
c.6584T>C (p.Leu2195Pro)
n.665T>C
c.997-17999T>C (n.997-17999T>C)
c.2672T>C
n.4277T>C
c.3108T>C
c.4535T>C (p.Leu1512Pro)
c.3681T>C
c.6746T>C (p.Leu2249Pro)
c.6701T>C (p.Leu2234Pro)
c.447-58035T>C
c.4075T>C
n.607T>C
c.6773T>C (p.Leu2258Pro)
n.1821T>C
n.335T>C
n.4258T>C
c.6731T>C (p.Leu2244Pro)
c.6704T>C (p.Leu2235Pro)
c.6656T>C (p.Leu2219Pro)
c.6707T>C (p.Leu2236Pro)
c.6776T>C (p.Leu2259Pro)
c.6743T>C (p.Leu2248Pro)
c.6740T>C (p.Leu2247Pro)
c.6665T>C (p.Leu2222Pro)
 gnomAD v4
3g.4788104T>GCA351640819ITPR1c.6784T>G (n.6784T>G)
c.6749T>G (p.Leu2250Arg)
c.6728T>G (p.Leu2243Arg)
c.6629T>G (p.Leu2210Arg)
c.6584T>G (p.Leu2195Arg)
n.665T>G
c.997-17999T>G (n.997-17999T>G)
c.2672T>G
n.4277T>G
c.3108T>G
c.4535T>G (p.Leu1512Arg)
c.3681T>G
c.6746T>G (p.Leu2249Arg)
c.6701T>G (p.Leu2234Arg)
c.447-58035T>G
c.4075T>G
n.607T>G
c.6773T>G (p.Leu2258Arg)
n.1821T>G
n.335T>G
n.4258T>G
c.6731T>G (p.Leu2244Arg)
c.6704T>G (p.Leu2235Arg)
c.6656T>G (p.Leu2219Arg)
c.6707T>G (p.Leu2236Arg)
c.6776T>G (p.Leu2259Arg)
c.6743T>G (p.Leu2248Arg)
c.6740T>G (p.Leu2247Arg)
c.6665T>G (p.Leu2222Arg)
3g.4788105C>ACA432323410ITPR1c.6785C>A (n.6785C>A)
c.6750C>A (p.Leu2250=)
c.6729C>A (p.Leu2243=)
c.6630C>A (p.Leu2210=)
c.6585C>A (p.Leu2195=)
n.666C>A
c.997-17998C>A (n.997-17998C>A)
c.2673C>A
n.4278C>A
c.3109C>A
c.4536C>A (p.Leu1512=)
c.3682C>A
c.6747C>A (p.Leu2249=)
c.6702C>A (p.Leu2234=)
c.447-58034C>A
c.4076C>A
n.608C>A
c.6774C>A (p.Leu2258=)
n.1822C>A
n.336C>A
n.4259C>A
c.6732C>A (p.Leu2244=)
c.6705C>A (p.Leu2235=)
c.6657C>A (p.Leu2219=)
c.6708C>A (p.Leu2236=)
c.6777C>A (p.Leu2259=)
c.6744C>A (p.Leu2248=)
c.6741C>A (p.Leu2247=)
c.6666C>A (p.Leu2222=)
3g.4788105C>GCA432323415ITPR1c.6785C>G (n.6785C>G)
c.6750C>G (p.Leu2250=)
c.6729C>G (p.Leu2243=)
c.6630C>G (p.Leu2210=)
c.6585C>G (p.Leu2195=)
n.666C>G
c.997-17998C>G (n.997-17998C>G)
c.2673C>G
n.4278C>G
c.3109C>G
c.4536C>G (p.Leu1512=)
c.3682C>G
c.6747C>G (p.Leu2249=)
c.6702C>G (p.Leu2234=)
c.447-58034C>G
c.4076C>G
n.608C>G
c.6774C>G (p.Leu2258=)
n.1822C>G
n.336C>G
n.4259C>G
c.6732C>G (p.Leu2244=)
c.6705C>G (p.Leu2235=)
c.6657C>G (p.Leu2219=)
c.6708C>G (p.Leu2236=)
c.6777C>G (p.Leu2259=)
c.6744C>G (p.Leu2248=)
c.6741C>G (p.Leu2247=)
c.6666C>G (p.Leu2222=)
3g.4788105C>TCA432323417ITPR1c.6785C>T (n.6785C>T)
c.6750C>T (p.Leu2250=)
c.6729C>T (p.Leu2243=)
c.6630C>T (p.Leu2210=)
c.6585C>T (p.Leu2195=)
n.666C>T
c.997-17998C>T (n.997-17998C>T)
c.2673C>T
n.4278C>T
c.3109C>T
c.4536C>T (p.Leu1512=)
c.3682C>T
c.6747C>T (p.Leu2249=)
c.6702C>T (p.Leu2234=)
c.447-58034C>T
c.4076C>T
n.608C>T
c.6774C>T (p.Leu2258=)
n.1822C>T
n.336C>T
n.4259C>T
c.6732C>T (p.Leu2244=)
c.6705C>T (p.Leu2235=)
c.6657C>T (p.Leu2219=)
c.6708C>T (p.Leu2236=)
c.6777C>T (p.Leu2259=)
c.6744C>T (p.Leu2248=)
c.6741C>T (p.Leu2247=)
c.6666C>T (p.Leu2222=)
3g.4788106T>ACA351640821ITPR1c.6786T>A (n.6786T>A)
c.6751T>A (p.Phe2251Ile)
c.6730T>A (p.Phe2244Ile)
c.6631T>A (p.Phe2211Ile)
c.6586T>A (p.Phe2196Ile)
n.667T>A
c.997-17997T>A (n.997-17997T>A)
c.2674T>A
n.4279T>A
c.3110T>A
c.4537T>A (p.Phe1513Ile)
c.3683T>A
c.6748T>A (p.Phe2250Ile)
c.6703T>A (p.Phe2235Ile)
c.447-58033T>A
c.4077T>A
n.609T>A
c.6775T>A (p.Phe2259Ile)
n.1823T>A
n.337T>A
n.4260T>A
c.6733T>A (p.Phe2245Ile)
c.6706T>A (p.Phe2236Ile)
c.6658T>A (p.Phe2220Ile)
c.6709T>A (p.Phe2237Ile)
c.6778T>A (p.Phe2260Ile)
c.6745T>A (p.Phe2249Ile)
c.6742T>A (p.Phe2248Ile)
c.6667T>A (p.Phe2223Ile)
3g.4788106T>CCA351640823ITPR1c.6786T>C (n.6786T>C)
c.6751T>C (p.Phe2251Leu)
c.6730T>C (p.Phe2244Leu)
c.6631T>C (p.Phe2211Leu)
c.6586T>C (p.Phe2196Leu)
n.667T>C
c.997-17997T>C (n.997-17997T>C)
c.2674T>C
n.4279T>C
c.3110T>C
c.4537T>C (p.Phe1513Leu)
c.3683T>C
c.6748T>C (p.Phe2250Leu)
c.6703T>C (p.Phe2235Leu)
c.447-58033T>C
c.4077T>C
n.609T>C
c.6775T>C (p.Phe2259Leu)
n.1823T>C
n.337T>C
n.4260T>C
c.6733T>C (p.Phe2245Leu)
c.6706T>C (p.Phe2236Leu)
c.6658T>C (p.Phe2220Leu)
c.6709T>C (p.Phe2237Leu)
c.6778T>C (p.Phe2260Leu)
c.6745T>C (p.Phe2249Leu)
c.6742T>C (p.Phe2248Leu)
c.6667T>C (p.Phe2223Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.4788106T>GCA351640825ITPR1c.6786T>G (n.6786T>G)
c.6751T>G (p.Phe2251Val)
c.6730T>G (p.Phe2244Val)
c.6631T>G (p.Phe2211Val)
c.6586T>G (p.Phe2196Val)
n.667T>G
c.997-17997T>G (n.997-17997T>G)
c.2674T>G
n.4279T>G
c.3110T>G
c.4537T>G (p.Phe1513Val)
c.3683T>G
c.6748T>G (p.Phe2250Val)
c.6703T>G (p.Phe2235Val)
c.447-58033T>G
c.4077T>G
n.609T>G
c.6775T>G (p.Phe2259Val)
n.1823T>G
n.337T>G
n.4260T>G
c.6733T>G (p.Phe2245Val)
c.6706T>G (p.Phe2236Val)
c.6658T>G (p.Phe2220Val)
c.6709T>G (p.Phe2237Val)
c.6778T>G (p.Phe2260Val)
c.6745T>G (p.Phe2249Val)
c.6742T>G (p.Phe2248Val)
c.6667T>G (p.Phe2223Val)
3g.4788106T=CA1342337459ITPR1c.6786T= (n.6786T=)
c.6751T= (p.Phe2251=)
c.6730T= (p.Phe2244=)
c.6631T= (p.Phe2211=)
c.6586T= (p.Phe2196=)
n.667T=
c.997-17997T= (n.997-17997T=)
c.2674T=
n.4279T=
c.3110T=
c.4537T= (p.Phe1513=)
c.3683T=
c.6748T= (p.Phe2250=)
c.6703T= (p.Phe2235=)
c.447-58033T=
c.4077T=
n.609T=
c.6775T= (p.Phe2259=)
n.1823T=
n.337T=
n.4260T=
c.6733T= (p.Phe2245=)
c.6706T= (p.Phe2236=)
c.6658T= (p.Phe2220=)
c.6709T= (p.Phe2237=)
c.6778T= (p.Phe2260=)
c.6745T= (p.Phe2249=)
c.6742T= (p.Phe2248=)
c.6667T= (p.Phe2223=)
3g.4788107T>ACA351640827ITPR1c.6787T>A (n.6787T>A)
c.6752T>A (p.Phe2251Tyr)
c.6731T>A (p.Phe2244Tyr)
c.6632T>A (p.Phe2211Tyr)
c.6587T>A (p.Phe2196Tyr)
n.668T>A
c.997-17996T>A (n.997-17996T>A)
c.2675T>A
n.4280T>A
c.3111T>A
c.4538T>A (p.Phe1513Tyr)
c.3684T>A
c.6749T>A (p.Phe2250Tyr)
c.6704T>A (p.Phe2235Tyr)
c.447-58032T>A
c.4078T>A
n.610T>A
c.6776T>A (p.Phe2259Tyr)
n.1824T>A
n.338T>A
n.4261T>A
c.6734T>A (p.Phe2245Tyr)
c.6707T>A (p.Phe2236Tyr)
c.6659T>A (p.Phe2220Tyr)
c.6710T>A (p.Phe2237Tyr)
c.6779T>A (p.Phe2260Tyr)
c.6746T>A (p.Phe2249Tyr)
c.6743T>A (p.Phe2248Tyr)
c.6668T>A (p.Phe2223Tyr)
3g.4788107T>CCA351640828ITPR1c.6787T>C (n.6787T>C)
c.6752T>C (p.Phe2251Ser)
c.6731T>C (p.Phe2244Ser)
c.6632T>C (p.Phe2211Ser)
c.6587T>C (p.Phe2196Ser)
n.668T>C
c.997-17996T>C (n.997-17996T>C)
c.2675T>C
n.4280T>C
c.3111T>C
c.4538T>C (p.Phe1513Ser)
c.3684T>C
c.6749T>C (p.Phe2250Ser)
c.6704T>C (p.Phe2235Ser)
c.447-58032T>C
c.4078T>C
n.610T>C
c.6776T>C (p.Phe2259Ser)
n.1824T>C
n.338T>C
n.4261T>C
c.6734T>C (p.Phe2245Ser)
c.6707T>C (p.Phe2236Ser)
c.6659T>C (p.Phe2220Ser)
c.6710T>C (p.Phe2237Ser)
c.6779T>C (p.Phe2260Ser)
c.6746T>C (p.Phe2249Ser)
c.6743T>C (p.Phe2248Ser)
c.6668T>C (p.Phe2223Ser)
 dbSNP
3g.4788107T>GCA351640830ITPR1c.6787T>G (n.6787T>G)
c.6752T>G (p.Phe2251Cys)
c.6731T>G (p.Phe2244Cys)
c.6632T>G (p.Phe2211Cys)
c.6587T>G (p.Phe2196Cys)
n.668T>G
c.997-17996T>G (n.997-17996T>G)
c.2675T>G
n.4280T>G
c.3111T>G
c.4538T>G (p.Phe1513Cys)
c.3684T>G
c.6749T>G (p.Phe2250Cys)
c.6704T>G (p.Phe2235Cys)
c.447-58032T>G
c.4078T>G
n.610T>G
c.6776T>G (p.Phe2259Cys)
n.1824T>G
n.338T>G
n.4261T>G
c.6734T>G (p.Phe2245Cys)
c.6707T>G (p.Phe2236Cys)
c.6659T>G (p.Phe2220Cys)
c.6710T>G (p.Phe2237Cys)
c.6779T>G (p.Phe2260Cys)
c.6746T>G (p.Phe2249Cys)
c.6743T>G (p.Phe2248Cys)
c.6668T>G (p.Phe2223Cys)
3g.4788107T=CA1342337460ITPR1c.6787T= (n.6787T=)
c.6752T= (p.Phe2251=)
c.6731T= (p.Phe2244=)
c.6632T= (p.Phe2211=)
c.6587T= (p.Phe2196=)
n.668T=
c.997-17996T= (n.997-17996T=)
c.2675T=
n.4280T=
c.3111T=
c.4538T= (p.Phe1513=)
c.3684T=
c.6749T= (p.Phe2250=)
c.6704T= (p.Phe2235=)
c.447-58032T=
c.4078T=
n.610T=
c.6776T= (p.Phe2259=)
n.1824T=
n.338T=
n.4261T=
c.6734T= (p.Phe2245=)
c.6707T= (p.Phe2236=)
c.6659T= (p.Phe2220=)
c.6710T= (p.Phe2237=)
c.6779T= (p.Phe2260=)
c.6746T= (p.Phe2249=)
c.6743T= (p.Phe2248=)
c.6668T= (p.Phe2223=)
3g.4788108C>ACA351640832ITPR1c.6788C>A (n.6788C>A)
c.6753C>A (p.Phe2251Leu)
c.6732C>A (p.Phe2244Leu)
c.6633C>A (p.Phe2211Leu)
c.6588C>A (p.Phe2196Leu)
n.669C>A
c.997-17995C>A (n.997-17995C>A)
c.2676C>A
n.4281C>A
c.3112C>A
c.4539C>A (p.Phe1513Leu)
c.3685C>A
c.6750C>A (p.Phe2250Leu)
c.6705C>A (p.Phe2235Leu)
c.447-58031C>A
c.4079C>A
n.611C>A
c.6777C>A (p.Phe2259Leu)
n.1825C>A
n.339C>A
n.4262C>A
c.6735C>A (p.Phe2245Leu)
c.6708C>A (p.Phe2236Leu)
c.6660C>A (p.Phe2220Leu)
c.6711C>A (p.Phe2237Leu)
c.6780C>A (p.Phe2260Leu)
c.6747C>A (p.Phe2249Leu)
c.6744C>A (p.Phe2248Leu)
c.6669C>A (p.Phe2223Leu)
 gnomAD v4
3g.4788108C>GCA351640834ITPR1c.6788C>G (n.6788C>G)
c.6753C>G (p.Phe2251Leu)
c.6732C>G (p.Phe2244Leu)
c.6633C>G (p.Phe2211Leu)
c.6588C>G (p.Phe2196Leu)
n.669C>G
c.997-17995C>G (n.997-17995C>G)
c.2676C>G
n.4281C>G
c.3112C>G
c.4539C>G (p.Phe1513Leu)
c.3685C>G
c.6750C>G (p.Phe2250Leu)
c.6705C>G (p.Phe2235Leu)
c.447-58031C>G
c.4079C>G
n.611C>G
c.6777C>G (p.Phe2259Leu)
n.1825C>G
n.339C>G
n.4262C>G
c.6735C>G (p.Phe2245Leu)
c.6708C>G (p.Phe2236Leu)
c.6660C>G (p.Phe2220Leu)
c.6711C>G (p.Phe2237Leu)
c.6780C>G (p.Phe2260Leu)
c.6747C>G (p.Phe2249Leu)
c.6744C>G (p.Phe2248Leu)
c.6669C>G (p.Phe2223Leu)
3g.4788108C>TCA432323423ITPR1c.6788C>T (n.6788C>T)
c.6753C>T (p.Phe2251=)
c.6732C>T (p.Phe2244=)
c.6633C>T (p.Phe2211=)
c.6588C>T (p.Phe2196=)
n.669C>T
c.997-17995C>T (n.997-17995C>T)
c.2676C>T
n.4281C>T
c.3112C>T
c.4539C>T (p.Phe1513=)
c.3685C>T
c.6750C>T (p.Phe2250=)
c.6705C>T (p.Phe2235=)
c.447-58031C>T
c.4079C>T
n.611C>T
c.6777C>T (p.Phe2259=)
n.1825C>T
n.339C>T
n.4262C>T
c.6735C>T (p.Phe2245=)
c.6708C>T (p.Phe2236=)
c.6660C>T (p.Phe2220=)
c.6711C>T (p.Phe2237=)
c.6780C>T (p.Phe2260=)
c.6747C>T (p.Phe2249=)
c.6744C>T (p.Phe2248=)
c.6669C>T (p.Phe2223=)

Number of alleles fetched