Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.4788003T>A | CA351640546 | ITPR1 | c.6683T>A (n.6683T>A) c.6648T>A (p.Cys2216Ter) c.6627T>A (p.Cys2209Ter) c.6528T>A (p.Cys2176Ter) c.6483T>A (p.Cys2161Ter) n.564T>A c.997-18100T>A (n.997-18100T>A) c.2571T>A n.4176T>A c.3007T>A c.4434T>A (p.Cys1478Ter) c.3580T>A c.6645T>A (p.Cys2215Ter) c.6600T>A (p.Cys2200Ter) c.447-58136T>A c.3974T>A n.506T>A c.6672T>A (p.Cys2224Ter) n.1720T>A n.234T>A n.4157T>A c.6630T>A (p.Cys2210Ter) c.6603T>A (p.Cys2201Ter) c.6555T>A (p.Cys2185Ter) c.6606T>A (p.Cys2202Ter) c.6675T>A (p.Cys2225Ter) c.6642T>A (p.Cys2214Ter) c.6639T>A (p.Cys2213Ter) c.6564T>A (p.Cys2188Ter) | |
3 | g.4788003T>C | CA2232651 | ITPR1 | c.6683T>C (n.6683T>C) c.6648T>C (p.Cys2216=) c.6627T>C (p.Cys2209=) c.6528T>C (p.Cys2176=) c.6483T>C (p.Cys2161=) n.564T>C c.997-18100T>C (n.997-18100T>C) c.2571T>C n.4176T>C c.3007T>C c.4434T>C (p.Cys1478=) c.3580T>C c.6645T>C (p.Cys2215=) c.6600T>C (p.Cys2200=) c.447-58136T>C c.3974T>C n.506T>C c.6672T>C (p.Cys2224=) n.1720T>C n.234T>C n.4157T>C c.6630T>C (p.Cys2210=) c.6603T>C (p.Cys2201=) c.6555T>C (p.Cys2185=) c.6606T>C (p.Cys2202=) c.6675T>C (p.Cys2225=) c.6642T>C (p.Cys2214=) c.6639T>C (p.Cys2213=) c.6564T>C (p.Cys2188=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4788003T>G | CA351640547 | ITPR1 | c.6683T>G (n.6683T>G) c.6648T>G (p.Cys2216Trp) c.6627T>G (p.Cys2209Trp) c.6528T>G (p.Cys2176Trp) c.6483T>G (p.Cys2161Trp) n.564T>G c.997-18100T>G (n.997-18100T>G) c.2571T>G n.4176T>G c.3007T>G c.4434T>G (p.Cys1478Trp) c.3580T>G c.6645T>G (p.Cys2215Trp) c.6600T>G (p.Cys2200Trp) c.447-58136T>G c.3974T>G n.506T>G c.6672T>G (p.Cys2224Trp) n.1720T>G n.234T>G n.4157T>G c.6630T>G (p.Cys2210Trp) c.6603T>G (p.Cys2201Trp) c.6555T>G (p.Cys2185Trp) c.6606T>G (p.Cys2202Trp) c.6675T>G (p.Cys2225Trp) c.6642T>G (p.Cys2214Trp) c.6639T>G (p.Cys2213Trp) c.6564T>G (p.Cys2188Trp) | |
3 | g.4788003T= | CA1342337426 | ITPR1 | c.6683T= (n.6683T=) c.6648T= (p.Cys2216=) c.6627T= (p.Cys2209=) c.6528T= (p.Cys2176=) c.6483T= (p.Cys2161=) n.564T= c.997-18100T= (n.997-18100T=) c.2571T= n.4176T= c.3007T= c.4434T= (p.Cys1478=) c.3580T= c.6645T= (p.Cys2215=) c.6600T= (p.Cys2200=) c.447-58136T= c.3974T= n.506T= c.6672T= (p.Cys2224=) n.1720T= n.234T= n.4157T= c.6630T= (p.Cys2210=) c.6603T= (p.Cys2201=) c.6555T= (p.Cys2185=) c.6606T= (p.Cys2202=) c.6675T= (p.Cys2225=) c.6642T= (p.Cys2214=) c.6639T= (p.Cys2213=) c.6564T= (p.Cys2188=) | |
3 | g.4788004G>A | CA351640549 | ITPR1 | c.6684G>A (n.6684G>A) c.6649G>A (p.Glu2217Lys) c.6628G>A (p.Glu2210Lys) c.6529G>A (p.Glu2177Lys) c.6484G>A (p.Glu2162Lys) n.565G>A c.997-18099G>A (n.997-18099G>A) c.2572G>A n.4177G>A c.3008G>A c.4435G>A (p.Glu1479Lys) c.3581G>A c.6646G>A (p.Glu2216Lys) c.6601G>A (p.Glu2201Lys) c.447-58135G>A c.3975G>A n.507G>A c.6673G>A (p.Glu2225Lys) n.1721G>A n.235G>A n.4158G>A c.6631G>A (p.Glu2211Lys) c.6604G>A (p.Glu2202Lys) c.6556G>A (p.Glu2186Lys) c.6607G>A (p.Glu2203Lys) c.6676G>A (p.Glu2226Lys) c.6643G>A (p.Glu2215Lys) c.6640G>A (p.Glu2214Lys) c.6565G>A (p.Glu2189Lys) | gnomAD v4 |
3 | g.4788004G>C | CA351640550 | ITPR1 | c.6684G>C (n.6684G>C) c.6649G>C (p.Glu2217Gln) c.6628G>C (p.Glu2210Gln) c.6529G>C (p.Glu2177Gln) c.6484G>C (p.Glu2162Gln) n.565G>C c.997-18099G>C (n.997-18099G>C) c.2572G>C n.4177G>C c.3008G>C c.4435G>C (p.Glu1479Gln) c.3581G>C c.6646G>C (p.Glu2216Gln) c.6601G>C (p.Glu2201Gln) c.447-58135G>C c.3975G>C n.507G>C c.6673G>C (p.Glu2225Gln) n.1721G>C n.235G>C n.4158G>C c.6631G>C (p.Glu2211Gln) c.6604G>C (p.Glu2202Gln) c.6556G>C (p.Glu2186Gln) c.6607G>C (p.Glu2203Gln) c.6676G>C (p.Glu2226Gln) c.6643G>C (p.Glu2215Gln) c.6640G>C (p.Glu2214Gln) c.6565G>C (p.Glu2189Gln) | |
3 | g.4788004G>T | CA351640548 | ITPR1 | c.6684G>T (n.6684G>T) c.6649G>T (p.Glu2217Ter) c.6628G>T (p.Glu2210Ter) c.6529G>T (p.Glu2177Ter) c.6484G>T (p.Glu2162Ter) n.565G>T c.997-18099G>T (n.997-18099G>T) c.2572G>T n.4177G>T c.3008G>T c.4435G>T (p.Glu1479Ter) c.3581G>T c.6646G>T (p.Glu2216Ter) c.6601G>T (p.Glu2201Ter) c.447-58135G>T c.3975G>T n.507G>T c.6673G>T (p.Glu2225Ter) n.1721G>T n.235G>T n.4158G>T c.6631G>T (p.Glu2211Ter) c.6604G>T (p.Glu2202Ter) c.6556G>T (p.Glu2186Ter) c.6607G>T (p.Glu2203Ter) c.6676G>T (p.Glu2226Ter) c.6643G>T (p.Glu2215Ter) c.6640G>T (p.Glu2214Ter) c.6565G>T (p.Glu2189Ter) | |
3 | g.4788005A= | CA1342337427 | ITPR1 | c.6685A= (n.6685A=) c.6650A= (p.Glu2217=) c.6629A= (p.Glu2210=) c.6530A= (p.Glu2177=) c.6485A= (p.Glu2162=) n.566A= c.997-18098A= (n.997-18098A=) c.2573A= n.4178A= c.3009A= c.4436A= (p.Glu1479=) c.3582A= c.6647A= (p.Glu2216=) c.6602A= (p.Glu2201=) c.447-58134A= c.3976A= n.508A= c.6674A= (p.Glu2225=) n.1722A= n.236A= n.4159A= c.6632A= (p.Glu2211=) c.6605A= (p.Glu2202=) c.6557A= (p.Glu2186=) c.6608A= (p.Glu2203=) c.6677A= (p.Glu2226=) c.6644A= (p.Glu2215=) c.6641A= (p.Glu2214=) c.6566A= (p.Glu2189=) | |
3 | g.4788005A>C | CA351640551 | ITPR1 | c.6685A>C (n.6685A>C) c.6650A>C (p.Glu2217Ala) c.6629A>C (p.Glu2210Ala) c.6530A>C (p.Glu2177Ala) c.6485A>C (p.Glu2162Ala) n.566A>C c.997-18098A>C (n.997-18098A>C) c.2573A>C n.4178A>C c.3009A>C c.4436A>C (p.Glu1479Ala) c.3582A>C c.6647A>C (p.Glu2216Ala) c.6602A>C (p.Glu2201Ala) c.447-58134A>C c.3976A>C n.508A>C c.6674A>C (p.Glu2225Ala) n.1722A>C n.236A>C n.4159A>C c.6632A>C (p.Glu2211Ala) c.6605A>C (p.Glu2202Ala) c.6557A>C (p.Glu2186Ala) c.6608A>C (p.Glu2203Ala) c.6677A>C (p.Glu2226Ala) c.6644A>C (p.Glu2215Ala) c.6641A>C (p.Glu2214Ala) c.6566A>C (p.Glu2189Ala) | |
3 | g.4788005A>G | CA351640553 | ITPR1 | c.6685A>G (n.6685A>G) c.6650A>G (p.Glu2217Gly) c.6629A>G (p.Glu2210Gly) c.6530A>G (p.Glu2177Gly) c.6485A>G (p.Glu2162Gly) n.566A>G c.997-18098A>G (n.997-18098A>G) c.2573A>G n.4178A>G c.3009A>G c.4436A>G (p.Glu1479Gly) c.3582A>G c.6647A>G (p.Glu2216Gly) c.6602A>G (p.Glu2201Gly) c.447-58134A>G c.3976A>G n.508A>G c.6674A>G (p.Glu2225Gly) n.1722A>G n.236A>G n.4159A>G c.6632A>G (p.Glu2211Gly) c.6605A>G (p.Glu2202Gly) c.6557A>G (p.Glu2186Gly) c.6608A>G (p.Glu2203Gly) c.6677A>G (p.Glu2226Gly) c.6644A>G (p.Glu2215Gly) c.6641A>G (p.Glu2214Gly) c.6566A>G (p.Glu2189Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.4788005A>T | CA351640552 | ITPR1 | c.6685A>T (n.6685A>T) c.6650A>T (p.Glu2217Val) c.6629A>T (p.Glu2210Val) c.6530A>T (p.Glu2177Val) c.6485A>T (p.Glu2162Val) n.566A>T c.997-18098A>T (n.997-18098A>T) c.2573A>T n.4178A>T c.3009A>T c.4436A>T (p.Glu1479Val) c.3582A>T c.6647A>T (p.Glu2216Val) c.6602A>T (p.Glu2201Val) c.447-58134A>T c.3976A>T n.508A>T c.6674A>T (p.Glu2225Val) n.1722A>T n.236A>T n.4159A>T c.6632A>T (p.Glu2211Val) c.6605A>T (p.Glu2202Val) c.6557A>T (p.Glu2186Val) c.6608A>T (p.Glu2203Val) c.6677A>T (p.Glu2226Val) c.6644A>T (p.Glu2215Val) c.6641A>T (p.Glu2214Val) c.6566A>T (p.Glu2189Val) | |
3 | g.4788006A= | CA1342337428 | ITPR1 | c.6686A= (n.6686A=) c.6651A= (p.Glu2217=) c.6630A= (p.Glu2210=) c.6531A= (p.Glu2177=) c.6486A= (p.Glu2162=) n.567A= c.997-18097A= (n.997-18097A=) c.2574A= n.4179A= c.3010A= c.4437A= (p.Glu1479=) c.3583A= c.6648A= (p.Glu2216=) c.6603A= (p.Glu2201=) c.447-58133A= c.3977A= n.509A= c.6675A= (p.Glu2225=) n.1723A= n.237A= n.4160A= c.6633A= (p.Glu2211=) c.6606A= (p.Glu2202=) c.6558A= (p.Glu2186=) c.6609A= (p.Glu2203=) c.6678A= (p.Glu2226=) c.6645A= (p.Glu2215=) c.6642A= (p.Glu2214=) c.6567A= (p.Glu2189=) | |
3 | g.4788006A>C | CA351640554 | ITPR1 | c.6686A>C (n.6686A>C) c.6651A>C (p.Glu2217Asp) c.6630A>C (p.Glu2210Asp) c.6531A>C (p.Glu2177Asp) c.6486A>C (p.Glu2162Asp) n.567A>C c.997-18097A>C (n.997-18097A>C) c.2574A>C n.4179A>C c.3010A>C c.4437A>C (p.Glu1479Asp) c.3583A>C c.6648A>C (p.Glu2216Asp) c.6603A>C (p.Glu2201Asp) c.447-58133A>C c.3977A>C n.509A>C c.6675A>C (p.Glu2225Asp) n.1723A>C n.237A>C n.4160A>C c.6633A>C (p.Glu2211Asp) c.6606A>C (p.Glu2202Asp) c.6558A>C (p.Glu2186Asp) c.6609A>C (p.Glu2203Asp) c.6678A>C (p.Glu2226Asp) c.6645A>C (p.Glu2215Asp) c.6642A>C (p.Glu2214Asp) c.6567A>C (p.Glu2189Asp) | |
3 | g.4788006A>G | CA2232652 | ITPR1 | c.6686A>G (n.6686A>G) c.6651A>G (p.Glu2217=) c.6630A>G (p.Glu2210=) c.6531A>G (p.Glu2177=) c.6486A>G (p.Glu2162=) n.567A>G c.997-18097A>G (n.997-18097A>G) c.2574A>G n.4179A>G c.3010A>G c.4437A>G (p.Glu1479=) c.3583A>G c.6648A>G (p.Glu2216=) c.6603A>G (p.Glu2201=) c.447-58133A>G c.3977A>G n.509A>G c.6675A>G (p.Glu2225=) n.1723A>G n.237A>G n.4160A>G c.6633A>G (p.Glu2211=) c.6606A>G (p.Glu2202=) c.6558A>G (p.Glu2186=) c.6609A>G (p.Glu2203=) c.6678A>G (p.Glu2226=) c.6645A>G (p.Glu2215=) c.6642A>G (p.Glu2214=) c.6567A>G (p.Glu2189=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4788006A>T | CA351640555 | ITPR1 | c.6686A>T (n.6686A>T) c.6651A>T (p.Glu2217Asp) c.6630A>T (p.Glu2210Asp) c.6531A>T (p.Glu2177Asp) c.6486A>T (p.Glu2162Asp) n.567A>T c.997-18097A>T (n.997-18097A>T) c.2574A>T n.4179A>T c.3010A>T c.4437A>T (p.Glu1479Asp) c.3583A>T c.6648A>T (p.Glu2216Asp) c.6603A>T (p.Glu2201Asp) c.447-58133A>T c.3977A>T n.509A>T c.6675A>T (p.Glu2225Asp) n.1723A>T n.237A>T n.4160A>T c.6633A>T (p.Glu2211Asp) c.6606A>T (p.Glu2202Asp) c.6558A>T (p.Glu2186Asp) c.6609A>T (p.Glu2203Asp) c.6678A>T (p.Glu2226Asp) c.6645A>T (p.Glu2215Asp) c.6642A>T (p.Glu2214Asp) c.6567A>T (p.Glu2189Asp) | |
3 | g.4788007T>A | CA351640556 | ITPR1 | c.6687T>A (n.6687T>A) c.6652T>A (p.Phe2218Ile) c.6631T>A (p.Phe2211Ile) c.6532T>A (p.Phe2178Ile) c.6487T>A (p.Phe2163Ile) n.568T>A c.997-18096T>A (n.997-18096T>A) c.2575T>A n.4180T>A c.3011T>A c.4438T>A (p.Phe1480Ile) c.3584T>A c.6649T>A (p.Phe2217Ile) c.6604T>A (p.Phe2202Ile) c.447-58132T>A c.3978T>A n.510T>A c.6676T>A (p.Phe2226Ile) n.1724T>A n.238T>A n.4161T>A c.6634T>A (p.Phe2212Ile) c.6607T>A (p.Phe2203Ile) c.6559T>A (p.Phe2187Ile) c.6610T>A (p.Phe2204Ile) c.6679T>A (p.Phe2227Ile) c.6646T>A (p.Phe2216Ile) c.6643T>A (p.Phe2215Ile) c.6568T>A (p.Phe2190Ile) | |
3 | g.4788007T>C | CA351640557 | ITPR1 | c.6687T>C (n.6687T>C) c.6652T>C (p.Phe2218Leu) c.6631T>C (p.Phe2211Leu) c.6532T>C (p.Phe2178Leu) c.6487T>C (p.Phe2163Leu) n.568T>C c.997-18096T>C (n.997-18096T>C) c.2575T>C n.4180T>C c.3011T>C c.4438T>C (p.Phe1480Leu) c.3584T>C c.6649T>C (p.Phe2217Leu) c.6604T>C (p.Phe2202Leu) c.447-58132T>C c.3978T>C n.510T>C c.6676T>C (p.Phe2226Leu) n.1724T>C n.238T>C n.4161T>C c.6634T>C (p.Phe2212Leu) c.6607T>C (p.Phe2203Leu) c.6559T>C (p.Phe2187Leu) c.6610T>C (p.Phe2204Leu) c.6679T>C (p.Phe2227Leu) c.6646T>C (p.Phe2216Leu) c.6643T>C (p.Phe2215Leu) c.6568T>C (p.Phe2190Leu) | |
3 | g.4788007T>G | CA351640558 | ITPR1 | c.6687T>G (n.6687T>G) c.6652T>G (p.Phe2218Val) c.6631T>G (p.Phe2211Val) c.6532T>G (p.Phe2178Val) c.6487T>G (p.Phe2163Val) n.568T>G c.997-18096T>G (n.997-18096T>G) c.2575T>G n.4180T>G c.3011T>G c.4438T>G (p.Phe1480Val) c.3584T>G c.6649T>G (p.Phe2217Val) c.6604T>G (p.Phe2202Val) c.447-58132T>G c.3978T>G n.510T>G c.6676T>G (p.Phe2226Val) n.1724T>G n.238T>G n.4161T>G c.6634T>G (p.Phe2212Val) c.6607T>G (p.Phe2203Val) c.6559T>G (p.Phe2187Val) c.6610T>G (p.Phe2204Val) c.6679T>G (p.Phe2227Val) c.6646T>G (p.Phe2216Val) c.6643T>G (p.Phe2215Val) c.6568T>G (p.Phe2190Val) | |
3 | g.4788008T>A | CA351640559 | ITPR1 | c.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) | |
3 | g.4788008T>C | CA351640560 | ITPR1 | c.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) | |
3 | g.4788008T>G | CA351640561 | ITPR1 | c.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) | |
3 | g.4788009C>A | CA351640562 | ITPR1 | c.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) | |
3 | g.4788009C>G | CA351640563 | ITPR1 | c.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) | |
3 | g.4788009C>T | CA432322744 | ITPR1 | c.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=) | |
3 | g.4788010C>A | CA351640564 | ITPR1 | c.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) | |
3 | g.4788010C>G | CA351640565 | ITPR1 | c.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 |
3 | g.4788010C>T | CA432322748 | ITPR1 | c.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=) | |
3 | g.4788011T>A | CA351640568 | ITPR1 | c.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) | |
3 | g.4788011T>C | CA351640567 | ITPR1 | c.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) | |
3 | g.4788011T>G | CA351640566 | ITPR1 | c.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) | |
3 | g.4788012A>C | CA432322763 | ITPR1 | c.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=) | |
3 | g.4788012A>G | CA432322766 | ITPR1 | c.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 |
3 | g.4788012A>T | CA432322771 | ITPR1 | c.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=) | |
3 | g.4788013A>C | CA351640569 | ITPR1 | c.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) | |
3 | g.4788013A>G | CA351640570 | ITPR1 | c.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) | |
3 | g.4788013A>T | CA351640571 | ITPR1 | c.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) | |
3 | g.4788014C>A | CA351640572 | ITPR1 | c.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) | |
3 | g.4788014C>G | CA351640573 | ITPR1 | c.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) | |
3 | g.4788014C>T | CA351640574 | ITPR1 | c.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) | |
3 | g.4788015C>A | CA432322782 | ITPR1 | c.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 |
3 | g.4788015C>G | CA432322787 | ITPR1 | c.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=) | |
3 | g.4788015C>T | CA432322784 | ITPR1 | c.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=) | |
3 | g.4788016A>C | CA351640575 | ITPR1 | c.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) | |
3 | g.4788016A>G | CA351640576 | ITPR1 | c.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) | |
3 | g.4788016A>T | CA351640577 | ITPR1 | c.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 |
3 | g.4788017A>C | CA351640578 | ITPR1 | c.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) | |
3 | g.4788017A>G | CA351640579 | ITPR1 | c.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) | |
3 | g.4788017A>T | CA351640580 | ITPR1 | c.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) | |
3 | g.4788018G>A | CA432322803 | ITPR1 | c.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=) | |
3 | g.4788018G>C | CA351640581 | ITPR1 | c.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) | |
3 | g.4788018G= | CA1342337429 | ITPR1 | c.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=) | |
3 | g.4788018G>T | CA2232653 | ITPR1 | c.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 |
3 | g.4788019G>A | CA351640582 | ITPR1 | c.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) | |
3 | g.4788019G>C | CA351640583 | ITPR1 | c.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) | |
3 | g.4788019G>T | CA351640584 | ITPR1 | c.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) | |
3 | g.4788020A>C | CA351640585 | ITPR1 | c.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) | |
3 | g.4788020A>G | CA351640586 | ITPR1 | c.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) | |
3 | g.4788020A>T | CA351640587 | ITPR1 | c.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) | |
3 | g.4788021G>A | CA432322830 | ITPR1 | c.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 |
3 | g.4788021G>C | CA351640588 | ITPR1 | c.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) | |
3 | g.4788021G= | CA1342337430 | ITPR1 | c.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=) | |
3 | g.4788021G>T | CA351640589 | ITPR1 | c.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) | |
3 | g.4788022T>A | CA351640590 | ITPR1 | c.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) | |
3 | g.4788022T>C | CA351640591 | ITPR1 | c.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) | |
3 | g.4788022T>G | CA351640592 | ITPR1 | c.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) | |
3 | g.4788023C>A | CA351640595 | ITPR1 | c.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) | |
3 | g.4788023C>G | CA351640594 | ITPR1 | c.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) | |
3 | g.4788023C>T | CA351640593 | ITPR1 | c.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) | |
3 | g.4788024A= | CA1342337431 | ITPR1 | c.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=) | |
3 | g.4788024A>C | CA432322853 | ITPR1 | c.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 |
3 | g.4788024A>G | CA2232654 | ITPR1 | c.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 |
3 | g.4788024A>T | CA432322854 | ITPR1 | c.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=) | |
3 | g.4788025A>C | CA351640596 | ITPR1 | c.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) | |
3 | g.4788025A>G | CA351640597 | ITPR1 | c.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) | |
3 | g.4788025A>T | CA351640598 | ITPR1 | c.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) | |
3 | g.4788026A>C | CA351640599 | ITPR1 | c.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) | |
3 | g.4788026A>G | CA351640600 | ITPR1 | c.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) | |
3 | g.4788026A>T | CA351640601 | ITPR1 | c.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) | |
3 | g.4788027A= | CA1342337432 | ITPR1 | c.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=) | |
3 | g.4788027A>C | CA351640602 | ITPR1 | c.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) | |
3 | g.4788027A>G | CA153216 | ITPR1 | c.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 |
3 | g.4788027A>T | CA351640603 | ITPR1 | c.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) | |
3 | g.4788028C>A | CA351640604 | ITPR1 | c.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) | |
3 | g.4788028C= | CA1342337433 | ITPR1 | c.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=) | |
3 | g.4788028C>G | CA351640605 | ITPR1 | c.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) | |
3 | g.4788028C>T | CA432322886 | ITPR1 | c.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 |
3 | g.4788029T>A | CA351640607 | ITPR1 | c.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) | |
3 | g.4788029T>C | CA351640608 | ITPR1 | c.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) | |
3 | g.4788029T>G | CA351640606 | ITPR1 | c.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) | |
3 | g.4788030A= | CA1342337434 | ITPR1 | c.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=) | |
3 | g.4788030A>C | CA432322889 | ITPR1 | c.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=) | |
3 | g.4788030A>G | CA432322890 | ITPR1 | c.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 |
3 | g.4788030A>T | CA432322894 | ITPR1 | c.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=) | |
3 | g.4788031C>A | CA432322903 | ITPR1 | c.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=) | |
3 | g.4788031C>G | CA351640609 | ITPR1 | c.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) | |
3 | g.4788031C>T | CA351640610 | ITPR1 | c.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 |
3 | g.4788032G>A | CA2232655 | ITPR1 | c.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 |
3 | g.4788032G>C | CA351640611 | ITPR1 | c.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) | |
3 | g.4788032G= | CA1342337435 | ITPR1 | c.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=) | |
3 | g.4788032G>T | CA351640612 | ITPR1 | c.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) | |
3 | g.4788033A>C | CA432322918 | ITPR1 | c.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=) | |
3 | g.4788033A>G | CA432322920 | ITPR1 | c.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 |
3 | g.4788033A>T | CA432322925 | ITPR1 | c.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=) | |
3 | g.4788034A>C | CA351640613 | ITPR1 | c.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) | |
3 | g.4788034A>G | CA351640614 | ITPR1 | c.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) | |
3 | g.4788034A>T | CA351640615 | ITPR1 | c.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) | |
3 | g.4788035T>A | CA351640616 | ITPR1 | c.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) | |
3 | g.4788035T>C | CA351640617 | ITPR1 | c.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) | |
3 | g.4788035T>G | CA351640618 | ITPR1 | c.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) | |
3 | g.4788036T>A | CA432322952 | ITPR1 | c.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=) | |
3 | g.4788036T>C | CA432322956 | ITPR1 | c.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=) | |
3 | g.4788036T>G | CA351640619 | ITPR1 | c.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) | |
3 | g.4788037T>A | CA351640622 | ITPR1 | c.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) | |
3 | g.4788037T>C | CA351640621 | ITPR1 | c.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) | |
3 | g.4788037T>G | CA351640620 | ITPR1 | c.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) | |
3 | g.4788038A>C | CA351640623 | ITPR1 | c.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) | |
3 | g.4788038A>G | CA351640624 | ITPR1 | c.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) | |
3 | g.4788038A>T | CA351640625 | ITPR1 | c.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) | |
3 | g.4788039C>A | CA351640626 | ITPR1 | c.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) | |
3 | g.4788039C>G | CA351640627 | ITPR1 | c.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) | |
3 | g.4788039C>T | CA432322976 | ITPR1 | c.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=) | |
3 | g.4788040T>A | CA351640628 | ITPR1 | c.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) | |
3 | g.4788040T>C | CA351640629 | ITPR1 | c.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 |
3 | g.4788040T>G | CA351640630 | ITPR1 | c.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 |
3 | g.4788040T= | CA1342337436 | ITPR1 | c.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=) | |
3 | g.4788041A= | CA1342337437 | ITPR1 | c.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=) | |
3 | g.4788041A>C | CA2232656 | ITPR1 | c.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 |
3 | g.4788041A>G | CA351640631 | ITPR1 | c.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 |
3 | g.4788041A>T | CA351640632 | ITPR1 | c.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) | |
3 | g.4788042T>A | CA351640633 | ITPR1 | c.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) | |
3 | g.4788042T>C | CA2232657 | ITPR1 | c.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 |
3 | g.4788042T>G | CA351640634 | ITPR1 | c.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) | |
3 | g.4788042T= | CA1342337438 | ITPR1 | c.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=) | |
3 | g.4788043A= | CA1342337439 | ITPR1 | c.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=) | |
3 | g.4788043A>C | CA351640636 | ITPR1 | c.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) | |
3 | g.4788043A>G | CA351640637 | ITPR1 | c.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 |
3 | g.4788043A>T | CA351640635 | ITPR1 | c.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) | |
3 | g.4788044C>A | CA351640638 | ITPR1 | c.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) | |
3 | g.4788044C= | CA1342337440 | ITPR1 | c.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=) | |
3 | g.4788044C>G | CA351640639 | ITPR1 | c.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) | |
3 | g.4788044C>T | CA351640640 | ITPR1 | c.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 |
3 | g.4788045T>A | CA432323010 | ITPR1 | c.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 |
3 | g.4788045T>C | CA432323012 | ITPR1 | c.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=) | |
3 | g.4788045T>G | CA432323016 | ITPR1 | c.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=) | |
3 | g.4788046A= | CA1342337441 | ITPR1 | c.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=) | |
3 | g.4788046A>C | CA351640641 | ITPR1 | c.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) | |
3 | g.4788046A>G | CA68827990 | ITPR1 | c.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 |
3 | g.4788046A>T | CA351640642 | ITPR1 | c.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 |
3 | g.4788047C>A | CA351640643 | ITPR1 | c.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) | |
3 | g.4788047C= | CA1342337442 | ITPR1 | c.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=) | |
3 | g.4788047C>G | CA351640644 | ITPR1 | c.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) | |
3 | g.4788047C>T | CA351640645 | ITPR1 | c.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 |
3 | g.4788048A= | CA1342337443 | ITPR1 | c.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=) | |
3 | g.4788048A>C | CA432323044 | ITPR1 | c.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=) | |
3 | g.4788048A>G | CA153219 | ITPR1 | c.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 |
3 | g.4788048A>T | CA432323050 | ITPR1 | c.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=) | |
3 | g.4788048_4788049insAG | CA645535844 | ITPR1 | c.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 |
3 | g.4788049G>A | CA351640646 | ITPR1 | c.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) | |
3 | g.4788049G>C | CA351640647 | ITPR1 | c.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 |
3 | g.4788049G>T | CA351640648 | ITPR1 | c.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) | |
3 | g.4788050A>C | CA351640651 | ITPR1 | c.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) | |
3 | g.4788050A>G | CA351640649 | ITPR1 | c.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) | |
3 | g.4788050A>T | CA351640650 | ITPR1 | c.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 |
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 |
3 | g.4788066C= | CA1342337448 | ITPR1 | c.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=) | |
3 | g.4788066C>G | CA432323167 | ITPR1 | c.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=) | |
3 | g.4788066C>T | CA432323164 | ITPR1 | c.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=) | |
3 | g.4788067A>C | CA351640690 | ITPR1 | c.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) | |
3 | g.4788067A>G | CA351640691 | ITPR1 | c.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 |
3 | g.4788067A>T | CA351640692 | ITPR1 | c.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) | |
3 | g.4788068G>A | CA351640693 | ITPR1 | c.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 |
3 | g.4788068G>C | CA351640694 | ITPR1 | c.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) | |
3 | g.4788068G>T | CA351640695 | ITPR1 | c.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) | |
3 | g.4788069C>A | CA351640696 | ITPR1 | c.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) | |
3 | g.4788069C>G | CA351640697 | ITPR1 | c.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) | |
3 | g.4788069C>T | CA432323174 | ITPR1 | c.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=) | |
3 | g.4788070A>C | CA351640700 | ITPR1 | c.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) | |
3 | g.4788070A>G | CA351640699 | ITPR1 | c.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) | |
3 | g.4788070A>T | CA351640698 | ITPR1 | c.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) | |
3 | g.4788071A>C | CA351640701 | ITPR1 | c.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) | |
3 | g.4788071A>G | CA351640702 | ITPR1 | c.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) | |
3 | g.4788071A>T | CA351640703 | ITPR1 | c.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) | |
3 | g.4788072A= | CA1342337449 | ITPR1 | c.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=) | |
3 | g.4788072A>C | CA351640704 | ITPR1 | c.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) | |
3 | g.4788072A>G | CA2232660 | ITPR1 | c.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 |
3 | g.4788072A>T | CA351640705 | ITPR1 | c.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) | |
3 | g.4788073A>C | CA351640706 | ITPR1 | c.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) | |
3 | g.4788073A>G | CA351640707 | ITPR1 | c.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) | |
3 | g.4788073A>T | CA351640708 | ITPR1 | c.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) | |
3 | g.4788074T>A | CA351640709 | ITPR1 | c.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) | |
3 | g.4788074T>C | CA351640710 | ITPR1 | c.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 |
3 | g.4788074T>G | CA351640711 | ITPR1 | c.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) | |
3 | g.4788075C>A | CA432323178 | ITPR1 | c.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=) | |
3 | g.4788075C>G | CA351640712 | ITPR1 | c.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) | |
3 | g.4788075C>T | CA432323179 | ITPR1 | c.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=) | |
3 | g.4788076A= | CA1342337450 | ITPR1 | c.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=) | |
3 | g.4788076A>C | CA351640713 | ITPR1 | c.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 |
3 | g.4788076A>G | CA351640715 | ITPR1 | c.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) | |
3 | g.4788076A>T | CA351640714 | ITPR1 | c.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) | |
3 | g.4788077A= | CA1342337451 | ITPR1 | c.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=) | |
3 | g.4788077A>C | CA351640716 | ITPR1 | c.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) | |
3 | g.4788077A>G | CA68828015 | ITPR1 | c.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 |
3 | g.4788077A>T | CA351640717 | ITPR1 | c.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) | |
3 | g.4788077_4788078insAACCAAACACACCCAACACA | CA2755057563 | ITPR1 | c.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) | |
3 | g.4788079_4788081del | CA2664221043 | ITPR1 | c.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 |
3 | g.4788078T>A | CA351640718 | ITPR1 | c.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) | |
3 | g.4788078T>C | CA432323182 | ITPR1 | c.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 |
3 | g.4788078T>G | CA351640719 | ITPR1 | c.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) | |
3 | g.4788079G>A | CA351640720 | ITPR1 | c.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) | |
3 | g.4788079G>C | CA351640721 | ITPR1 | c.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) | |
3 | g.4788079G>T | CA351640722 | ITPR1 | c.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) | |
3 | g.4788080A= | CA1342337452 | ITPR1 | c.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=) | |
3 | g.4788080A>C | CA351640723 | ITPR1 | c.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) | |
3 | g.4788080A>G | CA68828017 | ITPR1 | c.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 |
3 | g.4788080A>T | CA351640724 | ITPR1 | c.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) | |
3 | g.4788081T>A | CA351640726 | ITPR1 | c.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) | |
3 | g.4788081T>C | CA432323184 | ITPR1 | c.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=) | |
3 | g.4788081T>G | CA351640725 | ITPR1 | c.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) | |
3 | g.4788082T>A | CA351640727 | ITPR1 | c.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) | |
3 | g.4788082T>C | CA351640729 | ITPR1 | c.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) | |
3 | g.4788082T>G | CA351640728 | ITPR1 | c.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) | |
3 | g.4788083T>A | CA351640730 | ITPR1 | c.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) | |
3 | g.4788083T>C | CA351640731 | ITPR1 | c.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) | |
3 | g.4788083T>G | CA351640732 | ITPR1 | c.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) | |
3 | g.4788084C>A | CA351640735 | ITPR1 | c.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) | |
3 | g.4788084C>G | CA351640737 | ITPR1 | c.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) | |
3 | g.4788084C>T | CA432323186 | ITPR1 | c.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 |
3 | g.4788085T>A | CA351640738 | ITPR1 | c.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) | |
3 | g.4788085T>C | CA351640740 | ITPR1 | c.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) | |
3 | g.4788085T>G | CA351640741 | ITPR1 | c.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) | |
3 | g.4788086T>A | CA351640743 | ITPR1 | c.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) | |
3 | g.4788086T>C | CA351640745 | ITPR1 | c.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) | |
3 | g.4788086T>G | CA351640748 | ITPR1 | c.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) | |
3 | g.4788087T>A | CA351640750 | ITPR1 | c.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) | |
3 | g.4788087T>C | CA432323190 | ITPR1 | c.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=) | |
3 | g.4788087T>G | CA351640752 | ITPR1 | c.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) | |
3 | g.4788088C>A | CA351640754 | ITPR1 | c.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 |
3 | g.4788088C>G | CA351640756 | ITPR1 | c.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) | |
3 | g.4788088C>T | CA432323191 | ITPR1 | c.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=) | |
3 | g.4788089T>A | CA351640758 | ITPR1 | c.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) | |
3 | g.4788089T>C | CA351640759 | ITPR1 | c.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) | |
3 | g.4788089T>G | CA351640762 | ITPR1 | c.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) | |
3 | g.4788090G>A | CA68828019 | ITPR1 | c.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 |
3 | g.4788090G>C | CA432323193 | ITPR1 | c.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=) | |
3 | g.4788090G= | CA1342337453 | ITPR1 | c.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=) | |
3 | g.4788090G>T | CA432323194 | ITPR1 | c.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=) | |
3 | g.4788091C>A | CA432323195 | ITPR1 | c.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=) | |
3 | g.4788091C= | CA1342337454 | ITPR1 | c.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=) | |
3 | g.4788091C>G | CA351640763 | ITPR1 | c.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) | |
3 | g.4788091C>T | CA2232661 | ITPR1 | c.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 |
3 | g.4788092G>A | CA351640766 | ITPR1 | c.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 |
3 | g.4788092G>C | CA351640767 | ITPR1 | c.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 |
3 | g.4788092G= | CA1342337455 | ITPR1 | c.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=) | |
3 | g.4788092G>T | CA351640769 | ITPR1 | c.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) | |
3 | g.4788093G>A | CA432323200 | ITPR1 | c.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 |
3 | g.4788093G>C | CA432323203 | ITPR1 | c.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=) | |
3 | g.4788093G>T | CA432323202 | ITPR1 | c.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 |
3 | g.4788094T>A | CA351640772 | ITPR1 | c.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) | |
3 | g.4788094T>C | CA351640773 | ITPR1 | c.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) | |
3 | g.4788094T>G | CA351640775 | ITPR1 | c.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) | |
3 | g.4788095C>A | CA351640780 | ITPR1 | c.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 |
3 | g.4788095C>G | CA351640779 | ITPR1 | c.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) | |
3 | g.4788095C>T | CA351640778 | ITPR1 | c.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) | |
3 | g.4788096T>A | CA432323207 | ITPR1 | c.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=) | |
3 | g.4788096T>C | CA432323208 | ITPR1 | c.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 |
3 | g.4788096T>G | CA432323209 | ITPR1 | c.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=) | |
3 | g.4788097G>A | CA351640783 | ITPR1 | c.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) | |
3 | g.4788097G>C | CA351640784 | ITPR1 | c.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) | |
3 | g.4788097G>T | CA351640786 | ITPR1 | c.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) | |
3 | g.4788098A>C | CA351640788 | ITPR1 | c.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) | |
3 | g.4788098A>G | CA351640789 | ITPR1 | c.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 |
3 | g.4788098A>T | CA351640791 | ITPR1 | c.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) | |
3 | g.4788099A>C | CA351640795 | ITPR1 | c.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) | |
3 | g.4788099A>G | CA432323213 | ITPR1 | c.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=) | |
3 | g.4788099A>T | CA351640793 | ITPR1 | c.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) | |
3 | g.4788100G>A | CA351640797 | ITPR1 | c.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 |
3 | g.4788100G>C | CA351640799 | ITPR1 | c.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 |
3 | g.4788100G= | CA1342337456 | ITPR1 | c.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=) | |
3 | g.4788100G>T | CA351640801 | ITPR1 | c.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) | |
3 | g.4788101A>C | CA351640802 | ITPR1 | c.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 |
3 | g.4788101A>G | CA351640803 | ITPR1 | c.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) | |
3 | g.4788101A>T | CA351640804 | ITPR1 | c.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) | |
3 | g.4788102C>A | CA351640807 | ITPR1 | c.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) | |
3 | g.4788102C= | CA1342337457 | ITPR1 | c.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=) | |
3 | g.4788102C>G | CA351640809 | ITPR1 | c.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 |
3 | g.4788102C>T | CA2232662 | ITPR1 | c.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 |
3 | g.4788103C>A | CA2232663 | ITPR1 | c.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 |
3 | g.4788103C= | CA1342337458 | ITPR1 | c.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=) | |
3 | g.4788103C>G | CA351640812 | ITPR1 | c.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) | |
3 | g.4788103C>T | CA2232664 | ITPR1 | c.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 |