Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.4788051G>A | CA432323070 | ITPR1 | c.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=) | |
3 | g.4788051G>C | CA68827995 | ITPR1 | c.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 |
3 | g.4788051G= | CA1342337444 | ITPR1 | c.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=) | |
3 | g.4788051G>T | CA351640652 | ITPR1 | c.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) | |
3 | g.4788052A>C | CA432323089 | ITPR1 | c.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=) | |
3 | g.4788052A>G | CA351640653 | ITPR1 | c.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) | |
3 | g.4788052A>T | CA351640654 | ITPR1 | c.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) | |
3 | g.4788053G>A | CA351640655 | ITPR1 | c.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) | |
3 | g.4788053G>C | CA351640656 | ITPR1 | c.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) | |
3 | g.4788053G>T | CA351640657 | ITPR1 | c.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) | |
3 | g.4788054A>C | CA351640658 | ITPR1 | c.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) | |
3 | g.4788054A>G | CA432323099 | ITPR1 | c.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=) | |
3 | g.4788054A>T | CA351640659 | ITPR1 | c.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) | |
3 | g.4788055G>A | CA351640660 | ITPR1 | c.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) | |
3 | g.4788055G>C | CA351640661 | ITPR1 | c.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) | |
3 | g.4788055G>T | CA351640662 | ITPR1 | c.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) | |
3 | g.4788056A>C | CA351640664 | ITPR1 | c.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) | |
3 | g.4788056A>G | CA351640665 | ITPR1 | c.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) | |
3 | g.4788056A>T | CA351640663 | ITPR1 | c.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) | |
3 | g.4788057C>A | CA351640667 | ITPR1 | c.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) | |
3 | g.4788057C= | CA1342337445 | ITPR1 | c.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=) | |
3 | g.4788057C>G | CA351640666 | ITPR1 | c.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) | |
3 | g.4788057C>T | CA2232658 | ITPR1 | c.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 |
3 | g.4788058G>A | CA351640668 | ITPR1 | c.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 |
3 | g.4788058G>C | CA351640670 | ITPR1 | c.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) | |
3 | g.4788058G>T | CA351640669 | ITPR1 | c.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 |
3 | g.4788059A>C | CA351640671 | ITPR1 | c.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) | |
3 | g.4788059A>G | CA351640673 | ITPR1 | c.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) | |
3 | g.4788059A>T | CA351640672 | ITPR1 | c.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) | |
3 | g.4788060A>C | CA351640674 | ITPR1 | c.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) | |
3 | g.4788060A>G | CA432323145 | ITPR1 | c.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=) | |
3 | g.4788060A>T | CA351640675 | ITPR1 | c.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) | |
3 | g.4788061C>A | CA351640676 | ITPR1 | c.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) | |
3 | g.4788061C>G | CA351640677 | ITPR1 | c.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) | |
3 | g.4788061C>T | CA351640678 | ITPR1 | c.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) | |
3 | g.4788062A>C | CA351640679 | ITPR1 | c.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) | |
3 | g.4788062A>G | CA351640680 | ITPR1 | c.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) | |
3 | g.4788062A>T | CA351640681 | ITPR1 | c.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) | |
3 | g.4788063A>C | CA351640682 | ITPR1 | c.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) | |
3 | g.4788063A>G | CA432323154 | ITPR1 | c.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=) | |
3 | g.4788063A>T | CA351640683 | ITPR1 | c.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) | |
3 | g.4788064G>A | CA351640684 | ITPR1 | c.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 |
3 | g.4788064G>C | CA351640685 | ITPR1 | c.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) | |
3 | g.4788064G= | CA1342337446 | ITPR1 | c.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=) | |
3 | g.4788064G>T | CA351640686 | ITPR1 | c.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) | |
3 | g.4788065G>A | CA351640687 | ITPR1 | c.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 |
3 | g.4788065G>C | CA351640689 | ITPR1 | c.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) | |
3 | g.4788065G= | CA1342337447 | ITPR1 | c.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=) | |
3 | g.4788065G>T | CA351640688 | ITPR1 | c.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) | |
3 | g.4788066C>A | CA2232659 | ITPR1 | c.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 |