Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33668947C>A | CA2578586531 | ITPR3 | c.2007-27C>A (n.2007-27C>A) c.2076-27C>A (n.2076-27C>A) c.1824-27C>A (n.1824-27C>A) | |
6 | g.33668947_33668948del | CA2678292805 | ITPR3 | c.2007-27_2007-26del (n.2007-27_2007-26del) c.2076-27_2076-26del (n.2076-27_2076-26del) c.1824-27_1824-26del (n.1824-27_1824-26del) | gnomAD v4 |
6 | g.33668948T>A | CA2678292806 | ITPR3 | c.2007-26T>A (n.2007-26T>A) c.2076-26T>A (n.2076-26T>A) c.1824-26T>A (n.1824-26T>A) | gnomAD v4 |
6 | g.33668950_33668951del | CA2678292807 | ITPR3 | c.2007-24_2007-23del (n.2007-24_2007-23del) c.2076-24_2076-23del (n.2076-24_2076-23del) c.1824-24_1824-23del (n.1824-24_1824-23del) | gnomAD v4 |
6 | g.33668949G>A | CA2578586532 | ITPR3 | c.2007-25G>A (n.2007-25G>A) c.2076-25G>A (n.2076-25G>A) c.1824-25G>A (n.1824-25G>A) | |
6 | g.33668950T>A | CA2578586533 | ITPR3 | c.2007-24T>A (n.2007-24T>A) c.2076-24T>A (n.2076-24T>A) c.1824-24T>A (n.1824-24T>A) | |
6 | g.33668951G>A | CA2678292808 | ITPR3 | c.2007-23G>A (n.2007-23G>A) c.2076-23G>A (n.2076-23G>A) c.1824-23G>A (n.1824-23G>A) | gnomAD v4 |
6 | g.33668951G>T | CA2508576510 | ITPR3 | c.2007-23G>T (n.2007-23G>T) c.2076-23G>T (n.2076-23G>T) c.1824-23G>T (n.1824-23G>T) | |
6 | g.33668952A>G | CA2578586534 | ITPR3 | c.2007-22A>G (n.2007-22A>G) c.2076-22A>G (n.2076-22A>G) c.1824-22A>G (n.1824-22A>G) | |
6 | g.33668953C= | CA1620116727 | ITPR3 | c.2007-21C= (n.2007-21C=) c.2076-21C= (n.2076-21C=) c.1824-21C= (n.1824-21C=) | |
6 | g.33668953C>G | CA137130461 | ITPR3 | c.2007-21C>G (n.2007-21C>G) c.2076-21C>G (n.2076-21C>G) c.1824-21C>G (n.1824-21C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33668956G>A | CA2578586535 | ITPR3 | c.2007-18G>A (n.2007-18G>A) c.2076-18G>A (n.2076-18G>A) c.1824-18G>A (n.1824-18G>A) | |
6 | g.33668956G= | CA1620116728 | ITPR3 | c.2007-18G= (n.2007-18G=) c.2076-18G= (n.2076-18G=) c.1824-18G= (n.1824-18G=) | |
6 | g.33668956G>T | CA566701360 | ITPR3 | c.2007-18G>T (n.2007-18G>T) c.2076-18G>T (n.2076-18G>T) c.1824-18G>T (n.1824-18G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33668960C= | CA1620116729 | ITPR3 | c.2007-14C= (n.2007-14C=) c.2076-14C= (n.2076-14C=) c.1824-14C= (n.1824-14C=) | |
6 | g.33668960C>G | CA566701361 | ITPR3 | c.2007-14C>G (n.2007-14C>G) c.2076-14C>G (n.2076-14C>G) c.1824-14C>G (n.1824-14C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33668960C>T | CA3760452 | ITPR3 | c.2007-14C>T (n.2007-14C>T) c.2076-14C>T (n.2076-14C>T) c.1824-14C>T (n.1824-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33668962G>C | CA3760453 | ITPR3 | c.2007-12G>C (n.2007-12G>C) c.2076-12G>C (n.2076-12G>C) c.1824-12G>C (n.1824-12G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33668962G= | CA1620116730 | ITPR3 | c.2007-12G= (n.2007-12G=) c.2076-12G= (n.2076-12G=) c.1824-12G= (n.1824-12G=) | |
6 | g.33668962G>T | CA2678292815 | ITPR3 | c.2007-12G>T (n.2007-12G>T) c.2076-12G>T (n.2076-12G>T) c.1824-12G>T (n.1824-12G>T) | gnomAD v4 |
6 | g.33668963G>A | CA566701362 | ITPR3 | c.2007-11G>A (n.2007-11G>A) c.2076-11G>A (n.2076-11G>A) c.1824-11G>A (n.1824-11G>A) | dbSNP gnomAD v2 |
6 | g.33668963G= | CA1620116731 | ITPR3 | c.2007-11G= (n.2007-11G=) c.2076-11G= (n.2076-11G=) c.1824-11G= (n.1824-11G=) | |
6 | g.33668968C>A | CA2678292816 | ITPR3 | c.2007-6C>A (n.2007-6C>A) c.2076-6C>A (n.2076-6C>A) c.1824-6C>A (n.1824-6C>A) | gnomAD v4 |
6 | g.33668969T>C | CA2678292817 | ITPR3 | c.2007-5T>C (n.2007-5T>C) c.2076-5T>C (n.2076-5T>C) c.1824-5T>C (n.1824-5T>C) | gnomAD v4 |
6 | g.33668970G>A | CA2678292818 | ITPR3 | c.2007-4G>A (n.2007-4G>A) c.2076-4G>A (n.2076-4G>A) c.1824-4G>A (n.1824-4G>A) | gnomAD v4 |
6 | g.33668972A>C | CA363697484 | ITPR3 | c.2007-2A>C (n.2007-2A>C) c.2076-2A>C (n.2076-2A>C) c.1824-2A>C (n.1824-2A>C) | |
6 | g.33668972A>G | CA363697486 | ITPR3 | c.2007-2A>G (n.2007-2A>G) c.2076-2A>G (n.2076-2A>G) c.1824-2A>G (n.1824-2A>G) | |
6 | g.33668972A>T | CA363697487 | ITPR3 | c.2007-2A>T (n.2007-2A>T) c.2076-2A>T (n.2076-2A>T) c.1824-2A>T (n.1824-2A>T) | |
6 | g.33668973G>A | CA363697489 | ITPR3 | c.2007-1G>A (n.2007-1G>A) c.2076-1G>A (n.2076-1G>A) c.1824-1G>A (n.1824-1G>A) | |
6 | g.33668973G>C | CA363697490 | ITPR3 | c.2007-1G>C (n.2007-1G>C) c.2076-1G>C (n.2076-1G>C) c.1824-1G>C (n.1824-1G>C) | |
6 | g.33668973G>T | CA363697492 | ITPR3 | c.2007-1G>T (n.2007-1G>T) c.2076-1G>T (n.2076-1G>T) c.1824-1G>T (n.1824-1G>T) | |
6 | g.33668974G>A | CA449882449 | ITPR3 | c.2007G>A (p.Glu669=) c.2076G>A (p.Glu692=) c.1824G>A (p.Glu608=) | gnomAD v4 |
6 | g.33668974G>C | CA3760454 | ITPR3 | c.2007G>C (p.Glu669Asp) c.2076G>C (p.Glu692Asp) c.1824G>C (p.Glu608Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.33668974G= | CA1620116732 | ITPR3 | c.2007G= (p.Glu669=) c.2076G= (p.Glu692=) c.1824G= (p.Glu608=) | |
6 | g.33668974G>T | CA363697495 | ITPR3 | c.2007G>T (p.Glu669Asp) c.2076G>T (p.Glu692Asp) c.1824G>T (p.Glu608Asp) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33668975C>A | CA363697499 | ITPR3 | c.2008C>A (p.Leu670Ile) c.2077C>A (p.Leu693Ile) c.1825C>A (p.Leu609Ile) | |
6 | g.33668975C>G | CA363697501 | ITPR3 | c.2008C>G (p.Leu670Val) c.2077C>G (p.Leu693Val) c.1825C>G (p.Leu609Val) | |
6 | g.33668975C>T | CA363697497 | ITPR3 | c.2008C>T (p.Leu670Phe) c.2077C>T (p.Leu693Phe) c.1825C>T (p.Leu609Phe) | |
6 | g.33668976T>A | CA363697503 | ITPR3 | c.2009T>A (p.Leu670His) c.2078T>A (p.Leu693His) c.1826T>A (p.Leu609His) | |
6 | g.33668976T>C | CA363697505 | ITPR3 | c.2009T>C (p.Leu670Pro) c.2078T>C (p.Leu693Pro) c.1826T>C (p.Leu609Pro) | |
6 | g.33668976T>G | CA363697506 | ITPR3 | c.2009T>G (p.Leu670Arg) c.2078T>G (p.Leu693Arg) c.1826T>G (p.Leu609Arg) | |
6 | g.33668977T>A | CA449882460 | ITPR3 | c.2010T>A (p.Leu670=) c.2079T>A (p.Leu693=) c.1827T>A (p.Leu609=) | |
6 | g.33668977T>C | CA449882457 | ITPR3 | c.2010T>C (p.Leu670=) c.2079T>C (p.Leu693=) c.1827T>C (p.Leu609=) | |
6 | g.33668977T>G | CA449882459 | ITPR3 | c.2010T>G (p.Leu670=) c.2079T>G (p.Leu693=) c.1827T>G (p.Leu609=) | |
6 | g.33668978C>A | CA3760455 | ITPR3 | c.2011C>A (p.Arg671=) c.2080C>A (p.Arg694=) c.1828C>A (p.Arg610=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33668978C= | CA1620116733 | ITPR3 | c.2011C= (p.Arg671=) c.2080C= (p.Arg694=) c.1828C= (p.Arg610=) | |
6 | g.33668978C>G | CA363697508 | ITPR3 | c.2011C>G (p.Arg671Gly) c.2080C>G (p.Arg694Gly) c.1828C>G (p.Arg610Gly) | |
6 | g.33668978C>T | CA3760456 | ITPR3 | c.2011C>T (p.Arg671Trp) c.2080C>T (p.Arg694Trp) c.1828C>T (p.Arg610Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33668979G>A | CA3760457 | ITPR3 | c.2012G>A (p.Arg671Gln) c.2081G>A (p.Arg694Gln) c.1829G>A (p.Arg610Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33668979G>C | CA363697512 | ITPR3 | c.2012G>C (p.Arg671Pro) c.2081G>C (p.Arg694Pro) c.1829G>C (p.Arg610Pro) | |
6 | g.33668979G= | CA1620116734 | ITPR3 | c.2012G= (p.Arg671=) c.2081G= (p.Arg694=) c.1829G= (p.Arg610=) | |
6 | g.33668979G>T | CA363697514 | ITPR3 | c.2012G>T (p.Arg671Leu) c.2081G>T (p.Arg694Leu) c.1829G>T (p.Arg610Leu) | |
6 | g.33668980G>A | CA449882467 | ITPR3 | c.2013G>A (p.Arg671=) c.2082G>A (p.Arg694=) c.1830G>A (p.Arg610=) | dbSNP gnomAD v2 |
6 | g.33668980G>C | CA449882469 | ITPR3 | c.2013G>C (p.Arg671=) c.2082G>C (p.Arg694=) c.1830G>C (p.Arg610=) | |
6 | g.33668980G= | CA1620116735 | ITPR3 | c.2013G= (p.Arg671=) c.2082G= (p.Arg694=) c.1830G= (p.Arg610=) | |
6 | g.33668980G>T | CA449882471 | ITPR3 | c.2013G>T (p.Arg671=) c.2082G>T (p.Arg694=) c.1830G>T (p.Arg610=) | |
6 | g.33668981C>A | CA363697516 | ITPR3 | c.2014C>A (p.Pro672Thr) c.2083C>A (p.Pro695Thr) c.1831C>A (p.Pro611Thr) | |
6 | g.33668981C= | CA1620116736 | ITPR3 | c.2014C= (p.Pro672=) c.2083C= (p.Pro695=) c.1831C= (p.Pro611=) | |
6 | g.33668981C>G | CA363697518 | ITPR3 | c.2014C>G (p.Pro672Ala) c.2083C>G (p.Pro695Ala) c.1831C>G (p.Pro611Ala) | |
6 | g.33668981C>T | CA363697520 | ITPR3 | c.2014C>T (p.Pro672Ser) c.2083C>T (p.Pro695Ser) c.1831C>T (p.Pro611Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33668982C>A | CA363697524 | ITPR3 | c.2015C>A (p.Pro672His) c.2084C>A (p.Pro695His) c.1832C>A (p.Pro611His) | |
6 | g.33668982C>G | CA363697526 | ITPR3 | c.2015C>G (p.Pro672Arg) c.2084C>G (p.Pro695Arg) c.1832C>G (p.Pro611Arg) | |
6 | g.33668982C>T | CA363697522 | ITPR3 | c.2015C>T (p.Pro672Leu) c.2084C>T (p.Pro695Leu) c.1832C>T (p.Pro611Leu) | |
6 | g.33668983C>A | CA449882477 | ITPR3 | c.2016C>A (p.Pro672=) c.2085C>A (p.Pro695=) c.1833C>A (p.Pro611=) | gnomAD v4 |
6 | g.33668983C= | CA1620116737 | ITPR3 | c.2016C= (p.Pro672=) c.2085C= (p.Pro695=) c.1833C= (p.Pro611=) | |
6 | g.33668983C>G | CA3760458 | ITPR3 | c.2016C>G (p.Pro672=) c.2085C>G (p.Pro695=) c.1833C>G (p.Pro611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33668983C>T | CA449882480 | ITPR3 | c.2016C>T (p.Pro672=) c.2085C>T (p.Pro695=) c.1833C>T (p.Pro611=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33668984G>A | CA3760459 | ITPR3 | c.2017G>A (p.Val673Met) c.2086G>A (p.Val696Met) c.1834G>A (p.Val612Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33668984G>C | CA363697531 | ITPR3 | c.2017G>C (p.Val673Leu) c.2086G>C (p.Val696Leu) c.1834G>C (p.Val612Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33668984G= | CA1620116738 | ITPR3 | c.2017G= (p.Val673=) c.2086G= (p.Val696=) c.1834G= (p.Val612=) | |
6 | g.33668984G>T | CA363697532 | ITPR3 | c.2017G>T (p.Val673Leu) c.2086G>T (p.Val696Leu) c.1834G>T (p.Val612Leu) | |
6 | g.33668985T>A | CA363697535 | ITPR3 | c.2018T>A (p.Val673Glu) c.2087T>A (p.Val696Glu) c.1835T>A (p.Val612Glu) | |
6 | g.33668985T>C | CA363697537 | ITPR3 | c.2018T>C (p.Val673Ala) c.2087T>C (p.Val696Ala) c.1835T>C (p.Val612Ala) | |
6 | g.33668985T>G | CA363697538 | ITPR3 | c.2018T>G (p.Val673Gly) c.2087T>G (p.Val696Gly) c.1835T>G (p.Val612Gly) | |
6 | g.33668986G>A | CA449882487 | ITPR3 | c.2019G>A (p.Val673=) c.2088G>A (p.Val696=) c.1836G>A (p.Val612=) | |
6 | g.33668986G>C | CA449882488 | ITPR3 | c.2019G>C (p.Val673=) c.2088G>C (p.Val696=) c.1836G>C (p.Val612=) | |
6 | g.33668986G>T | CA449882490 | ITPR3 | c.2019G>T (p.Val673=) c.2088G>T (p.Val696=) c.1836G>T (p.Val612=) | |
6 | g.33668987A>C | CA363697541 | ITPR3 | c.2020A>C (p.Lys674Gln) c.2089A>C (p.Lys697Gln) c.1837A>C (p.Lys613Gln) | |
6 | g.33668987A>G | CA363697544 | ITPR3 | c.2020A>G (p.Lys674Glu) c.2089A>G (p.Lys697Glu) c.1837A>G (p.Lys613Glu) | |
6 | g.33668987A>T | CA363697542 | ITPR3 | c.2020A>T (p.Lys674Ter) c.2089A>T (p.Lys697Ter) c.1837A>T (p.Lys613Ter) | |
6 | g.33668988A= | CA1620116739 | ITPR3 | c.2021A= (p.Lys674=) c.2090A= (p.Lys697=) c.1838A= (p.Lys613=) | |
6 | g.33668988A>C | CA363697547 | ITPR3 | c.2021A>C (p.Lys674Thr) c.2090A>C (p.Lys697Thr) c.1838A>C (p.Lys613Thr) | |
6 | g.33668988A>G | CA363697549 | ITPR3 | c.2021A>G (p.Lys674Arg) c.2090A>G (p.Lys697Arg) c.1838A>G (p.Lys613Arg) | dbSNP |
6 | g.33668988A>T | CA363697551 | ITPR3 | c.2021A>T (p.Lys674Met) c.2090A>T (p.Lys697Met) c.1838A>T (p.Lys613Met) | |
6 | g.33668989G>A | CA449882496 | ITPR3 | c.2022G>A (p.Lys674=) c.2091G>A (p.Lys697=) c.1839G>A (p.Lys613=) | gnomAD v4 |
6 | g.33668989G>C | CA363697552 | ITPR3 | c.2022G>C (p.Lys674Asn) c.2091G>C (p.Lys697Asn) c.1839G>C (p.Lys613Asn) | |
6 | g.33668989G>T | CA363697554 | ITPR3 | c.2022G>T (p.Lys674Asn) c.2091G>T (p.Lys697Asn) c.1839G>T (p.Lys613Asn) | |
6 | g.33668990G>A | CA363697560 | ITPR3 | c.2023G>A (p.Glu675Lys) c.2092G>A (p.Glu698Lys) c.1840G>A (p.Glu614Lys) | |
6 | g.33668990G>C | CA363697558 | ITPR3 | c.2023G>C (p.Glu675Gln) c.2092G>C (p.Glu698Gln) c.1840G>C (p.Glu614Gln) | |
6 | g.33668990G>T | CA363697556 | ITPR3 | c.2023G>T (p.Glu675Ter) c.2092G>T (p.Glu698Ter) c.1840G>T (p.Glu614Ter) | |
6 | g.33668991A>C | CA363697565 | ITPR3 | c.2024A>C (p.Glu675Ala) c.2093A>C (p.Glu698Ala) c.1841A>C (p.Glu614Ala) | |
6 | g.33668991A>G | CA363697568 | ITPR3 | c.2024A>G (p.Glu675Gly) c.2093A>G (p.Glu698Gly) c.1841A>G (p.Glu614Gly) | |
6 | g.33668991A>T | CA363697566 | ITPR3 | c.2024A>T (p.Glu675Val) c.2093A>T (p.Glu698Val) c.1841A>T (p.Glu614Val) | |
6 | g.33668992G>A | CA449882504 | ITPR3 | c.2025G>A (p.Glu675=) c.2094G>A (p.Glu698=) c.1842G>A (p.Glu614=) | gnomAD v4 |
6 | g.33668992G>C | CA363697570 | ITPR3 | c.2025G>C (p.Glu675Asp) c.2094G>C (p.Glu698Asp) c.1842G>C (p.Glu614Asp) | |
6 | g.33668992G>T | CA363697572 | ITPR3 | c.2025G>T (p.Glu675Asp) c.2094G>T (p.Glu698Asp) c.1842G>T (p.Glu614Asp) | |
6 | g.33668993A= | CA1620116740 | ITPR3 | c.2026A= (p.Met676=) c.2095A= (p.Met699=) c.1843A= (p.Met615=) | |
6 | g.33668993A>C | CA363697574 | ITPR3 | c.2026A>C (p.Met676Leu) c.2095A>C (p.Met699Leu) c.1843A>C (p.Met615Leu) | |
6 | g.33668993A>G | CA363697578 | ITPR3 | c.2026A>G (p.Met676Val) c.2095A>G (p.Met699Val) c.1843A>G (p.Met615Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33668993A>T | CA363697576 | ITPR3 | c.2026A>T (p.Met676Leu) c.2095A>T (p.Met699Leu) c.1843A>T (p.Met615Leu) | |
6 | g.33668994T>A | CA363697580 | ITPR3 | c.2027T>A (p.Met676Lys) c.2096T>A (p.Met699Lys) c.1844T>A (p.Met615Lys) | |
6 | g.33668994T>C | CA363697583 | ITPR3 | c.2027T>C (p.Met676Thr) c.2096T>C (p.Met699Thr) c.1844T>C (p.Met615Thr) | |
6 | g.33668994T>G | CA363697581 | ITPR3 | c.2027T>G (p.Met676Arg) c.2096T>G (p.Met699Arg) c.1844T>G (p.Met615Arg) | |
6 | g.33668995G>A | CA137130494 | ITPR3 | c.2028G>A (p.Met676Ile) c.2097G>A (p.Met699Ile) c.1845G>A (p.Met615Ile) | dbSNP |
6 | g.33668995G>C | CA363697585 | ITPR3 | c.2028G>C (p.Met676Ile) c.2097G>C (p.Met699Ile) c.1845G>C (p.Met615Ile) | |
6 | g.33668995G= | CA1620116741 | ITPR3 | c.2028G= (p.Met676=) c.2097G= (p.Met699=) c.1845G= (p.Met615=) | |
6 | g.33668995G>T | CA363697586 | ITPR3 | c.2028G>T (p.Met676Ile) c.2097G>T (p.Met699Ile) c.1845G>T (p.Met615Ile) | |
6 | g.33668996G>A | CA363697589 | ITPR3 | c.2029G>A (p.Ala677Thr) c.2098G>A (p.Ala700Thr) c.1846G>A (p.Ala616Thr) | COSMIC COSMIC |
6 | g.33668996G>C | CA363697590 | ITPR3 | c.2029G>C (p.Ala677Pro) c.2098G>C (p.Ala700Pro) c.1846G>C (p.Ala616Pro) | gnomAD v3 gnomAD v4 |
6 | g.33668996G= | CA1620116742 | ITPR3 | c.2029G= (p.Ala677=) c.2098G= (p.Ala700=) c.1846G= (p.Ala616=) | |
6 | g.33668996G>T | CA3760460 | ITPR3 | c.2029G>T (p.Ala677Ser) c.2098G>T (p.Ala700Ser) c.1846G>T (p.Ala616Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33668997C>A | CA363697593 | ITPR3 | c.2030C>A (p.Ala677Asp) c.2099C>A (p.Ala700Asp) c.1847C>A (p.Ala616Asp) | |
6 | g.33668997C>G | CA363697594 | ITPR3 | c.2030C>G (p.Ala677Gly) c.2099C>G (p.Ala700Gly) c.1847C>G (p.Ala616Gly) | COSMIC COSMIC |
6 | g.33668997C>T | CA363697596 | ITPR3 | c.2030C>T (p.Ala677Val) c.2099C>T (p.Ala700Val) c.1847C>T (p.Ala616Val) | |
6 | g.33668998C>A | CA449882522 | ITPR3 | c.2031C>A (p.Ala677=) c.2100C>A (p.Ala700=) c.1848C>A (p.Ala616=) | |
6 | g.33668998C>G | CA449882521 | ITPR3 | c.2031C>G (p.Ala677=) c.2100C>G (p.Ala700=) c.1848C>G (p.Ala616=) | |
6 | g.33668998C>T | CA449882519 | ITPR3 | c.2031C>T (p.Ala677=) c.2100C>T (p.Ala700=) c.1848C>T (p.Ala616=) | gnomAD v3 gnomAD v4 |
6 | g.33668999C>A | CA363697602 | ITPR3 | c.2032C>A (p.Gln678Lys) c.2101C>A (p.Gln701Lys) c.1849C>A (p.Gln617Lys) | |
6 | g.33668999C= | CA1620116743 | ITPR3 | c.2032C= (p.Gln678=) c.2101C= (p.Gln701=) c.1849C= (p.Gln617=) | |
6 | g.33668999C>G | CA3760461 | ITPR3 | c.2032C>G (p.Gln678Glu) c.2101C>G (p.Gln701Glu) c.1849C>G (p.Gln617Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33668999C>T | CA363697599 | ITPR3 | c.2032C>T (p.Gln678Ter) c.2101C>T (p.Gln701Ter) c.1849C>T (p.Gln617Ter) | |
6 | g.33669000A>C | CA363697605 | ITPR3 | c.2033A>C (p.Gln678Pro) c.2102A>C (p.Gln701Pro) c.1850A>C (p.Gln617Pro) | |
6 | g.33669000A>G | CA363697607 | ITPR3 | c.2033A>G (p.Gln678Arg) c.2102A>G (p.Gln701Arg) c.1850A>G (p.Gln617Arg) | |
6 | g.33669000A>T | CA363697608 | ITPR3 | c.2033A>T (p.Gln678Leu) c.2102A>T (p.Gln701Leu) c.1850A>T (p.Gln617Leu) | |
6 | g.33669001A>C | CA363697611 | ITPR3 | c.2034A>C (p.Gln678His) c.2103A>C (p.Gln701His) c.1851A>C (p.Gln617His) | |
6 | g.33669001A>G | CA449882527 | ITPR3 | c.2034A>G (p.Gln678=) c.2103A>G (p.Gln701=) c.1851A>G (p.Gln617=) | gnomAD v4 |
6 | g.33669001A>T | CA363697612 | ITPR3 | c.2034A>T (p.Gln678His) c.2103A>T (p.Gln701His) c.1851A>T (p.Gln617His) | |
6 | g.33669002T>A | CA363697613 | ITPR3 | c.2035T>A (p.Ser679Thr) c.2104T>A (p.Ser702Thr) c.1852T>A (p.Ser618Thr) | |
6 | g.33669002T>C | CA363697615 | ITPR3 | c.2035T>C (p.Ser679Pro) c.2104T>C (p.Ser702Pro) c.1852T>C (p.Ser618Pro) | |
6 | g.33669002T>G | CA363697616 | ITPR3 | c.2035T>G (p.Ser679Ala) c.2104T>G (p.Ser702Ala) c.1852T>G (p.Ser618Ala) | |
6 | g.33669003C>A | CA363697618 | ITPR3 | c.2036C>A (p.Ser679Tyr) c.2105C>A (p.Ser702Tyr) c.1853C>A (p.Ser618Tyr) | |
6 | g.33669003C= | CA1620116744 | ITPR3 | c.2036C= (p.Ser679=) c.2105C= (p.Ser702=) c.1853C= (p.Ser618=) | |
6 | g.33669003C>G | CA363697619 | ITPR3 | c.2036C>G (p.Ser679Cys) c.2105C>G (p.Ser702Cys) c.1853C>G (p.Ser618Cys) | |
6 | g.33669003C>T | CA3760462 | ITPR3 | c.2036C>T (p.Ser679Phe) c.2105C>T (p.Ser702Phe) c.1853C>T (p.Ser618Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669004C>A | CA449882534 | ITPR3 | c.2037C>A (p.Ser679=) c.2106C>A (p.Ser702=) c.1854C>A (p.Ser618=) | |
6 | g.33669004C>G | CA449882537 | ITPR3 | c.2037C>G (p.Ser679=) c.2106C>G (p.Ser702=) c.1854C>G (p.Ser618=) | |
6 | g.33669004C>T | CA449882536 | ITPR3 | c.2037C>T (p.Ser679=) c.2106C>T (p.Ser702=) c.1854C>T (p.Ser618=) | |
6 | g.33669005C>A | CA363697623 | ITPR3 | c.2038C>A (p.His680Asn) c.2107C>A (p.His703Asn) c.1855C>A (p.His619Asn) | |
6 | g.33669005C>G | CA363697624 | ITPR3 | c.2038C>G (p.His680Asp) c.2107C>G (p.His703Asp) c.1855C>G (p.His619Asp) | |
6 | g.33669005C>T | CA363697621 | ITPR3 | c.2038C>T (p.His680Tyr) c.2107C>T (p.His703Tyr) c.1855C>T (p.His619Tyr) | |
6 | g.33669006A>C | CA363697627 | ITPR3 | c.2039A>C (p.His680Pro) c.2108A>C (p.His703Pro) c.1856A>C (p.His619Pro) | gnomAD v4 |
6 | g.33669006A>G | CA363697629 | ITPR3 | c.2039A>G (p.His680Arg) c.2108A>G (p.His703Arg) c.1856A>G (p.His619Arg) | |
6 | g.33669006A>T | CA363697630 | ITPR3 | c.2039A>T (p.His680Leu) c.2108A>T (p.His703Leu) c.1856A>T (p.His619Leu) | |
6 | g.33669007C>A | CA363697632 | ITPR3 | c.2040C>A (p.His680Gln) c.2109C>A (p.His703Gln) c.1857C>A (p.His619Gln) | |
6 | g.33669007C>G | CA363697634 | ITPR3 | c.2040C>G (p.His680Gln) c.2109C>G (p.His703Gln) c.1857C>G (p.His619Gln) | gnomAD v4 |
6 | g.33669007C>T | CA449882546 | ITPR3 | c.2040C>T (p.His680=) c.2109C>T (p.His703=) c.1857C>T (p.His619=) | gnomAD v4 |
6 | g.33669014_33669028del | CA2678292847 | ITPR3 | c.2047_2061del (p.Leu683_Tyr687del) c.2116_2130del (p.Leu706_Tyr710del) c.1864_1878del (p.Leu622_Tyr626del) | gnomAD v4 |
6 | g.33669008G>A | CA3760463 | ITPR3 | c.2041G>A (p.Glu681Lys) c.2110G>A (p.Glu704Lys) c.1858G>A (p.Glu620Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669008G>C | CA363697636 | ITPR3 | c.2041G>C (p.Glu681Gln) c.2110G>C (p.Glu704Gln) c.1858G>C (p.Glu620Gln) | |
6 | g.33669008G= | CA1620116745 | ITPR3 | c.2041G= (p.Glu681=) c.2110G= (p.Glu704=) c.1858G= (p.Glu620=) | |
6 | g.33669008G>T | CA363697638 | ITPR3 | c.2041G>T (p.Glu681Ter) c.2110G>T (p.Glu704Ter) c.1858G>T (p.Glu620Ter) | |
6 | g.33669009A>C | CA363697642 | ITPR3 | c.2042A>C (p.Glu681Ala) c.2111A>C (p.Glu704Ala) c.1859A>C (p.Glu620Ala) | |
6 | g.33669009A>G | CA363697644 | ITPR3 | c.2042A>G (p.Glu681Gly) c.2111A>G (p.Glu704Gly) c.1859A>G (p.Glu620Gly) | |
6 | g.33669009A>T | CA363697645 | ITPR3 | c.2042A>T (p.Glu681Val) c.2111A>T (p.Glu704Val) c.1859A>T (p.Glu620Val) | |
6 | g.33669010G>A | CA449882554 | ITPR3 | c.2043G>A (p.Glu681=) c.2112G>A (p.Glu704=) c.1860G>A (p.Glu620=) | |
6 | g.33669010G>C | CA363697647 | ITPR3 | c.2043G>C (p.Glu681Asp) c.2112G>C (p.Glu704Asp) c.1860G>C (p.Glu620Asp) | |
6 | g.33669010G>T | CA363697649 | ITPR3 | c.2043G>T (p.Glu681Asp) c.2112G>T (p.Glu704Asp) c.1860G>T (p.Glu620Asp) | |
6 | g.33669011T>A | CA363697650 | ITPR3 | c.2044T>A (p.Tyr682Asn) c.2113T>A (p.Tyr705Asn) c.1861T>A (p.Tyr621Asn) | |
6 | g.33669011T>C | CA363697654 | ITPR3 | c.2044T>C (p.Tyr682His) c.2113T>C (p.Tyr705His) c.1861T>C (p.Tyr621His) | gnomAD v4 |
6 | g.33669011T>G | CA363697652 | ITPR3 | c.2044T>G (p.Tyr682Asp) c.2113T>G (p.Tyr705Asp) c.1861T>G (p.Tyr621Asp) | |
6 | g.33669012A>C | CA363697656 | ITPR3 | c.2045A>C (p.Tyr682Ser) c.2114A>C (p.Tyr705Ser) c.1862A>C (p.Tyr621Ser) | gnomAD v4 |
6 | g.33669012A>G | CA363697658 | ITPR3 | c.2045A>G (p.Tyr682Cys) c.2114A>G (p.Tyr705Cys) c.1862A>G (p.Tyr621Cys) | |
6 | g.33669012A>T | CA363697660 | ITPR3 | c.2045A>T (p.Tyr682Phe) c.2114A>T (p.Tyr705Phe) c.1862A>T (p.Tyr621Phe) | |
6 | g.33669013C>A | CA363697662 | ITPR3 | c.2046C>A (p.Tyr682Ter) c.2115C>A (p.Tyr705Ter) c.1863C>A (p.Tyr621Ter) | |
6 | g.33669013C>G | CA363697663 | ITPR3 | c.2046C>G (p.Tyr682Ter) c.2115C>G (p.Tyr705Ter) c.1863C>G (p.Tyr621Ter) | |
6 | g.33669013C>T | CA449882563 | ITPR3 | c.2046C>T (p.Tyr682=) c.2115C>T (p.Tyr705=) c.1863C>T (p.Tyr621=) | |
6 | g.33669014C>A | CA363697665 | ITPR3 | c.2047C>A (p.Leu683Met) c.2116C>A (p.Leu706Met) c.1864C>A (p.Leu622Met) | gnomAD v4 |
6 | g.33669014C= | CA1620116746 | ITPR3 | c.2047C= (p.Leu683=) c.2116C= (p.Leu706=) c.1864C= (p.Leu622=) | |
6 | g.33669014C>G | CA363697666 | ITPR3 | c.2047C>G (p.Leu683Val) c.2116C>G (p.Leu706Val) c.1864C>G (p.Leu622Val) | |
6 | g.33669014C>T | CA3760464 | ITPR3 | c.2047C>T (p.Leu683=) c.2116C>T (p.Leu706=) c.1864C>T (p.Leu622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669015T>A | CA137130532 | ITPR3 | c.2048T>A (p.Leu683Gln) c.2117T>A (p.Leu706Gln) c.1865T>A (p.Leu622Gln) | dbSNP gnomAD v4 |
6 | g.33669015T>C | CA363697670 | ITPR3 | c.2048T>C (p.Leu683Pro) c.2117T>C (p.Leu706Pro) c.1865T>C (p.Leu622Pro) | gnomAD v4 |
6 | g.33669015T>G | CA363697672 | ITPR3 | c.2048T>G (p.Leu683Arg) c.2117T>G (p.Leu706Arg) c.1865T>G (p.Leu622Arg) | |
6 | g.33669015T= | CA1620116747 | ITPR3 | c.2048T= (p.Leu683=) c.2117T= (p.Leu706=) c.1865T= (p.Leu622=) | |
6 | g.33669016G>A | CA449882569 | ITPR3 | c.2049G>A (p.Leu683=) c.2118G>A (p.Leu706=) c.1866G>A (p.Leu622=) | |
6 | g.33669016G>C | CA449882572 | ITPR3 | c.2049G>C (p.Leu683=) c.2118G>C (p.Leu706=) c.1866G>C (p.Leu622=) | |
6 | g.33669016G>T | CA449882570 | ITPR3 | c.2049G>T (p.Leu683=) c.2118G>T (p.Leu706=) c.1866G>T (p.Leu622=) | |
6 | g.33669017A= | CA1620116748 | ITPR3 | c.2050A= (p.Ser684=) c.2119A= (p.Ser707=) c.1867A= (p.Ser623=) | |
6 | g.33669017A>C | CA3760465 | ITPR3 | c.2050A>C (p.Ser684Arg) c.2119A>C (p.Ser707Arg) c.1867A>C (p.Ser623Arg) | dbSNP ExAC gnomAD v2 |
6 | g.33669017A>G | CA363697676 | ITPR3 | c.2050A>G (p.Ser684Gly) c.2119A>G (p.Ser707Gly) c.1867A>G (p.Ser623Gly) | |
6 | g.33669017A>T | CA363697674 | ITPR3 | c.2050A>T (p.Ser684Cys) c.2119A>T (p.Ser707Cys) c.1867A>T (p.Ser623Cys) | |
6 | g.33669018G>A | CA363697680 | ITPR3 | c.2051G>A (p.Ser684Asn) c.2120G>A (p.Ser707Asn) c.1868G>A (p.Ser623Asn) | |
6 | g.33669018G>C | CA363697682 | ITPR3 | c.2051G>C (p.Ser684Thr) c.2120G>C (p.Ser707Thr) c.1868G>C (p.Ser623Thr) | |
6 | g.33669018G>T | CA363697683 | ITPR3 | c.2051G>T (p.Ser684Ile) c.2120G>T (p.Ser707Ile) c.1868G>T (p.Ser623Ile) | |
6 | g.33669019C>A | CA363697686 | ITPR3 | c.2052C>A (p.Ser684Arg) c.2121C>A (p.Ser707Arg) c.1869C>A (p.Ser623Arg) | |
6 | g.33669019C>G | CA363697688 | ITPR3 | c.2052C>G (p.Ser684Arg) c.2121C>G (p.Ser707Arg) c.1869C>G (p.Ser623Arg) | |
6 | g.33669019C>T | CA449882580 | ITPR3 | c.2052C>T (p.Ser684=) c.2121C>T (p.Ser707=) c.1869C>T (p.Ser623=) | |
6 | g.33669020A>C | CA363697689 | ITPR3 | c.2053A>C (p.Ile685Leu) c.2122A>C (p.Ile708Leu) c.1870A>C (p.Ile624Leu) | |
6 | g.33669020A>G | CA363697690 | ITPR3 | c.2053A>G (p.Ile685Val) c.2122A>G (p.Ile708Val) c.1870A>G (p.Ile624Val) | gnomAD v4 |
6 | g.33669020A>T | CA363697692 | ITPR3 | c.2053A>T (p.Ile685Phe) c.2122A>T (p.Ile708Phe) c.1870A>T (p.Ile624Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33669021T>A | CA363697694 | ITPR3 | c.2054T>A (p.Ile685Asn) c.2123T>A (p.Ile708Asn) c.1871T>A (p.Ile624Asn) | |
6 | g.33669021T>C | CA363697695 | ITPR3 | c.2054T>C (p.Ile685Thr) c.2123T>C (p.Ile708Thr) c.1871T>C (p.Ile624Thr) | |
6 | g.33669021T>G | CA363697697 | ITPR3 | c.2054T>G (p.Ile685Ser) c.2123T>G (p.Ile708Ser) c.1871T>G (p.Ile624Ser) | |
6 | g.33669022C>A | CA449882586 | ITPR3 | c.2055C>A (p.Ile685=) c.2124C>A (p.Ile708=) c.1872C>A (p.Ile624=) | |
6 | g.33669022C= | CA1620116749 | ITPR3 | c.2055C= (p.Ile685=) c.2124C= (p.Ile708=) c.1872C= (p.Ile624=) | |
6 | g.33669022C>G | CA363697699 | ITPR3 | c.2055C>G (p.Ile685Met) c.2124C>G (p.Ile708Met) c.1872C>G (p.Ile624Met) | |
6 | g.33669022C>T | CA3760466 | ITPR3 | c.2055C>T (p.Ile685=) c.2124C>T (p.Ile708=) c.1872C>T (p.Ile624=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33669023G>A | CA363697706 | ITPR3 | c.2056G>A (p.Glu686Lys) c.2125G>A (p.Glu709Lys) c.1873G>A (p.Glu625Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33669023G>C | CA363697705 | ITPR3 | c.2056G>C (p.Glu686Gln) c.2125G>C (p.Glu709Gln) c.1873G>C (p.Glu625Gln) | gnomAD v4 |
6 | g.33669023G= | CA1620116750 | ITPR3 | c.2056G= (p.Glu686=) c.2125G= (p.Glu709=) c.1873G= (p.Glu625=) | |
6 | g.33669023G>T | CA363697703 | ITPR3 | c.2056G>T (p.Glu686Ter) c.2125G>T (p.Glu709Ter) c.1873G>T (p.Glu625Ter) | |
6 | g.33669024A>C | CA363697708 | ITPR3 | c.2057A>C (p.Glu686Ala) c.2126A>C (p.Glu709Ala) c.1874A>C (p.Glu625Ala) | |
6 | g.33669024A>G | CA363697710 | ITPR3 | c.2057A>G (p.Glu686Gly) c.2126A>G (p.Glu709Gly) c.1874A>G (p.Glu625Gly) | |
6 | g.33669024A>T | CA363697711 | ITPR3 | c.2057A>T (p.Glu686Val) c.2126A>T (p.Glu709Val) c.1874A>T (p.Glu625Val) | |
6 | g.33669025G>A | CA449882594 | ITPR3 | c.2058G>A (p.Glu686=) c.2127G>A (p.Glu709=) c.1875G>A (p.Glu625=) | |
6 | g.33669025G>C | CA363697712 | ITPR3 | c.2058G>C (p.Glu686Asp) c.2127G>C (p.Glu709Asp) c.1875G>C (p.Glu625Asp) | |
6 | g.33669025G>T | CA363697714 | ITPR3 | c.2058G>T (p.Glu686Asp) c.2127G>T (p.Glu709Asp) c.1875G>T (p.Glu625Asp) | |
6 | g.33669026T>A | CA363697718 | ITPR3 | c.2059T>A (p.Tyr687Asn) c.2128T>A (p.Tyr710Asn) c.1876T>A (p.Tyr626Asn) | |
6 | g.33669026T>C | CA363697721 | ITPR3 | c.2059T>C (p.Tyr687His) c.2128T>C (p.Tyr710His) c.1876T>C (p.Tyr626His) | |
6 | g.33669026T>G | CA363697724 | ITPR3 | c.2059T>G (p.Tyr687Asp) c.2128T>G (p.Tyr710Asp) c.1876T>G (p.Tyr626Asp) | |
6 | g.33669027A>C | CA363697725 | ITPR3 | c.2060A>C (p.Tyr687Ser) c.2129A>C (p.Tyr710Ser) c.1877A>C (p.Tyr626Ser) | |
6 | g.33669027A>G | CA363697726 | ITPR3 | c.2060A>G (p.Tyr687Cys) c.2129A>G (p.Tyr710Cys) c.1877A>G (p.Tyr626Cys) | |
6 | g.33669027A>T | CA363697727 | ITPR3 | c.2060A>T (p.Tyr687Phe) c.2129A>T (p.Tyr710Phe) c.1877A>T (p.Tyr626Phe) | |
6 | g.33669028C>A | CA363697729 | ITPR3 | c.2061C>A (p.Tyr687Ter) c.2130C>A (p.Tyr710Ter) c.1878C>A (p.Tyr626Ter) | |
6 | g.33669028C>G | CA363697731 | ITPR3 | c.2061C>G (p.Tyr687Ter) c.2130C>G (p.Tyr710Ter) c.1878C>G (p.Tyr626Ter) | |
6 | g.33669028C>T | CA449882603 | ITPR3 | c.2061C>T (p.Tyr687=) c.2130C>T (p.Tyr710=) c.1878C>T (p.Tyr626=) | gnomAD v4 |
6 | g.33669029T>A | CA363697735 | ITPR3 | c.2062T>A (p.Ser688Thr) c.2131T>A (p.Ser711Thr) c.1879T>A (p.Ser627Thr) | |
6 | g.33669029T>C | CA363697737 | ITPR3 | c.2062T>C (p.Ser688Pro) c.2131T>C (p.Ser711Pro) c.1879T>C (p.Ser627Pro) | dbSNP |
6 | g.33669029T>G | CA363697733 | ITPR3 | c.2062T>G (p.Ser688Ala) c.2131T>G (p.Ser711Ala) c.1879T>G (p.Ser627Ala) | gnomAD v4 |
6 | g.33669029T= | CA1620116751 | ITPR3 | c.2062T= (p.Ser688=) c.2131T= (p.Ser711=) c.1879T= (p.Ser627=) | |
6 | g.33669030C>A | CA363697739 | ITPR3 | c.2063C>A (p.Ser688Ter) c.2132C>A (p.Ser711Ter) c.1880C>A (p.Ser627Ter) | |
6 | g.33669030C>G | CA363697740 | ITPR3 | c.2063C>G (p.Ser688Ter) c.2132C>G (p.Ser711Ter) c.1880C>G (p.Ser627Ter) | |
6 | g.33669030C>T | CA363697741 | ITPR3 | c.2063C>T (p.Ser688Leu) c.2132C>T (p.Ser711Leu) c.1880C>T (p.Ser627Leu) | |
6 | g.33669031A>C | CA449882610 | ITPR3 | c.2064A>C (p.Ser688=) c.2133A>C (p.Ser711=) c.1881A>C (p.Ser627=) | |
6 | g.33669031A>G | CA449882612 | ITPR3 | c.2064A>G (p.Ser688=) c.2133A>G (p.Ser711=) c.1881A>G (p.Ser627=) | |
6 | g.33669031A>T | CA449882614 | ITPR3 | c.2064A>T (p.Ser688=) c.2133A>T (p.Ser711=) c.1881A>T (p.Ser627=) | |
6 | g.33669032G>A | CA363697743 | ITPR3 | c.2065G>A (p.Glu689Lys) c.2134G>A (p.Glu712Lys) c.1882G>A (p.Glu628Lys) | |
6 | g.33669032G>C | CA363697744 | ITPR3 | c.2065G>C (p.Glu689Gln) c.2134G>C (p.Glu712Gln) c.1882G>C (p.Glu628Gln) | |
6 | g.33669032G>T | CA363697746 | ITPR3 | c.2065G>T (p.Glu689Ter) c.2134G>T (p.Glu712Ter) c.1882G>T (p.Glu628Ter) | |
6 | g.33669033A= | CA1620116752 | ITPR3 | c.2066A= (p.Glu689=) c.2135A= (p.Glu712=) c.1883A= (p.Glu628=) | |
6 | g.33669033A>C | CA363697749 | ITPR3 | c.2066A>C (p.Glu689Ala) c.2135A>C (p.Glu712Ala) c.1883A>C (p.Glu628Ala) | |
6 | g.33669033A>G | CA3760467 | ITPR3 | c.2066A>G (p.Glu689Gly) c.2135A>G (p.Glu712Gly) c.1883A>G (p.Glu628Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33669033A>T | CA363697752 | ITPR3 | c.2066A>T (p.Glu689Val) c.2135A>T (p.Glu712Val) c.1883A>T (p.Glu628Val) | |
6 | g.33669034A>C | CA363697754 | ITPR3 | c.2067A>C (p.Glu689Asp) c.2136A>C (p.Glu712Asp) c.1884A>C (p.Glu628Asp) | |
6 | g.33669034A>G | CA449882622 | ITPR3 | c.2067A>G (p.Glu689=) c.2136A>G (p.Glu712=) c.1884A>G (p.Glu628=) | |
6 | g.33669034A>T | CA363697756 | ITPR3 | c.2067A>T (p.Glu689Asp) c.2136A>T (p.Glu712Asp) c.1884A>T (p.Glu628Asp) | |
6 | g.33669035G>A | CA363697760 | ITPR3 | c.2068G>A (p.Glu690Lys) c.2137G>A (p.Glu713Lys) c.1885G>A (p.Glu629Lys) | |
6 | g.33669035G>C | CA363697759 | ITPR3 | c.2068G>C (p.Glu690Gln) c.2137G>C (p.Glu713Gln) c.1885G>C (p.Glu629Gln) | |
6 | g.33669035G>T | CA363697757 | ITPR3 | c.2068G>T (p.Glu690Ter) c.2137G>T (p.Glu713Ter) c.1885G>T (p.Glu629Ter) | |
6 | g.33669036A>C | CA363697762 | ITPR3 | c.2069A>C (p.Glu690Ala) c.2138A>C (p.Glu713Ala) c.1886A>C (p.Glu629Ala) | |
6 | g.33669036A>G | CA363697763 | ITPR3 | c.2069A>G (p.Glu690Gly) c.2138A>G (p.Glu713Gly) c.1886A>G (p.Glu629Gly) | |
6 | g.33669036A>T | CA363697764 | ITPR3 | c.2069A>T (p.Glu690Val) c.2138A>T (p.Glu713Val) c.1886A>T (p.Glu629Val) | |
6 | g.33669037G>A | CA449882629 | ITPR3 | c.2070G>A (p.Glu690=) c.2139G>A (p.Glu713=) c.1887G>A (p.Glu629=) | dbSNP |
6 | g.33669037G>C | CA363697765 | ITPR3 | c.2070G>C (p.Glu690Asp) c.2139G>C (p.Glu713Asp) c.1887G>C (p.Glu629Asp) | |
6 | g.33669037G= | CA1620116753 | ITPR3 | c.2070G= (p.Glu690=) c.2139G= (p.Glu713=) c.1887G= (p.Glu629=) | |
6 | g.33669037G>T | CA363697766 | ITPR3 | c.2070G>T (p.Glu690Asp) c.2139G>T (p.Glu713Asp) c.1887G>T (p.Glu629Asp) | |
6 | g.33669038G>A | CA363697767 | ITPR3 | c.2071G>A (p.Glu691Lys) c.2140G>A (p.Glu714Lys) c.1888G>A (p.Glu630Lys) | gnomAD v4 |
6 | g.33669038G>C | CA363697768 | ITPR3 | c.2071G>C (p.Glu691Gln) c.2140G>C (p.Glu714Gln) c.1888G>C (p.Glu630Gln) | |
6 | g.33669038G>T | CA363697770 | ITPR3 | c.2071G>T (p.Glu691Ter) c.2140G>T (p.Glu714Ter) c.1888G>T (p.Glu630Ter) | |
6 | g.33669039A= | CA1620116754 | ITPR3 | c.2072A= (p.Glu691=) c.2141A= (p.Glu714=) c.1889A= (p.Glu630=) | |
6 | g.33669039A>C | CA363697772 | ITPR3 | c.2072A>C (p.Glu691Ala) c.2141A>C (p.Glu714Ala) c.1889A>C (p.Glu630Ala) | |
6 | g.33669039A>G | CA363697774 | ITPR3 | c.2072A>G (p.Glu691Gly) c.2141A>G (p.Glu714Gly) c.1889A>G (p.Glu630Gly) | dbSNP |
6 | g.33669039A>T | CA363697775 | ITPR3 | c.2072A>T (p.Glu691Val) c.2141A>T (p.Glu714Val) c.1889A>T (p.Glu630Val) | |
6 | g.33669040A>C | CA363697776 | ITPR3 | c.2073A>C (p.Glu691Asp) c.2142A>C (p.Glu714Asp) c.1890A>C (p.Glu630Asp) | |
6 | g.33669040A>G | CA449882637 | ITPR3 | c.2073A>G (p.Glu691=) c.2142A>G (p.Glu714=) c.1890A>G (p.Glu630=) | |
6 | g.33669040A>T | CA363697777 | ITPR3 | c.2073A>T (p.Glu691Asp) c.2142A>T (p.Glu714Asp) c.1890A>T (p.Glu630Asp) | |
6 | g.33669041G>A | CA363697778 | ITPR3 | c.2074G>A (p.Val692Met) c.2143G>A (p.Val715Met) c.1891G>A (p.Val631Met) | dbSNP gnomAD v4 |
6 | g.33669041G>C | CA363697779 | ITPR3 | c.2074G>C (p.Val692Leu) c.2143G>C (p.Val715Leu) c.1891G>C (p.Val631Leu) | |
6 | g.33669041G= | CA1620116755 | ITPR3 | c.2074G= (p.Val692=) c.2143G= (p.Val715=) c.1891G= (p.Val631=) | |
6 | g.33669041G>T | CA137130566 | ITPR3 | c.2074G>T (p.Val692Leu) c.2143G>T (p.Val715Leu) c.1891G>T (p.Val631Leu) | dbSNP |
6 | g.33669042T>A | CA363697784 | ITPR3 | c.2075T>A (p.Val692Glu) c.2144T>A (p.Val715Glu) c.1892T>A (p.Val631Glu) | |
6 | g.33669042T>C | CA363697782 | ITPR3 | c.2075T>C (p.Val692Ala) c.2144T>C (p.Val715Ala) c.1892T>C (p.Val631Ala) | dbSNP |
6 | g.33669042T>G | CA363697786 | ITPR3 | c.2075T>G (p.Val692Gly) c.2144T>G (p.Val715Gly) c.1892T>G (p.Val631Gly) | |
6 | g.33669042T= | CA1620116756 | ITPR3 | c.2075T= (p.Val692=) c.2144T= (p.Val715=) c.1892T= (p.Val631=) | |
6 | g.33669043G>A | CA449882645 | ITPR3 | c.2076G>A (p.Val692=) c.2145G>A (p.Val715=) c.1893G>A (p.Val631=) | gnomAD v4 |
6 | g.33669043G>C | CA449882647 | ITPR3 | c.2076G>C (p.Val692=) c.2145G>C (p.Val715=) c.1893G>C (p.Val631=) | |
6 | g.33669043G>T | CA449882648 | ITPR3 | c.2076G>T (p.Val692=) c.2145G>T (p.Val715=) c.1893G>T (p.Val631=) | |
6 | g.33669044T>A | CA363697787 | ITPR3 | c.2077T>A (p.Trp693Arg) c.2146T>A (p.Trp716Arg) c.1894T>A (p.Trp632Arg) | |
6 | g.33669044T>C | CA363697790 | ITPR3 | c.2077T>C (p.Trp693Arg) c.2146T>C (p.Trp716Arg) c.1894T>C (p.Trp632Arg) | |
6 | g.33669044T>G | CA363697792 | ITPR3 | c.2077T>G (p.Trp693Gly) c.2146T>G (p.Trp716Gly) c.1894T>G (p.Trp632Gly) | |
6 | g.33669045G>A | CA363697795 | ITPR3 | c.2078G>A (p.Trp693Ter) c.2147G>A (p.Trp716Ter) c.1895G>A (p.Trp632Ter) | |
6 | g.33669045G>C | CA363697796 | ITPR3 | c.2078G>C (p.Trp693Ser) c.2147G>C (p.Trp716Ser) c.1895G>C (p.Trp632Ser) | |
6 | g.33669045G>T | CA363697798 | ITPR3 | c.2078G>T (p.Trp693Leu) c.2147G>T (p.Trp716Leu) c.1895G>T (p.Trp632Leu) | |
6 | g.33669046G>A | CA363697800 | ITPR3 | c.2079G>A (p.Trp693Ter) c.2148G>A (p.Trp716Ter) c.1896G>A (p.Trp632Ter) | |
6 | g.33669046G>C | CA363697802 | ITPR3 | c.2079G>C (p.Trp693Cys) c.2148G>C (p.Trp716Cys) c.1896G>C (p.Trp632Cys) | COSMIC COSMIC |
6 | g.33669046G>T | CA363697804 | ITPR3 | c.2079G>T (p.Trp693Cys) c.2148G>T (p.Trp716Cys) c.1896G>T (p.Trp632Cys) | |
6 | g.33669047C>A | CA363697806 | ITPR3 | c.2080C>A (p.Leu694Ile) c.2149C>A (p.Leu717Ile) c.1897C>A (p.Leu633Ile) | |
6 | g.33669047C>G | CA363697807 | ITPR3 | c.2080C>G (p.Leu694Val) c.2149C>G (p.Leu717Val) c.1897C>G (p.Leu633Val) | |
6 | g.33669047C>T | CA363697809 | ITPR3 | c.2080C>T (p.Leu694Phe) c.2149C>T (p.Leu717Phe) c.1897C>T (p.Leu633Phe) |