Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900793C>A | CA395411343 | ATP2A1 | c.1977C>A (p.Asp659Glu) c.1602C>A (p.Asp534Glu) | gnomAD v4 |
16 | g.28900793C= | CA2215885102 | ATP2A1 | c.1977C= (p.Asp659=) c.1602C= (p.Asp534=) | |
16 | g.28900793C>G | CA395411344 | ATP2A1 | c.1977C>G (p.Asp659Glu) c.1602C>G (p.Asp534Glu) | gnomAD v4 |
16 | g.28900793C>T | CA494874409 | ATP2A1 | c.1977C>T (p.Asp659=) c.1602C>T (p.Asp534=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900794G>A | CA7987138 | ATP2A1 | c.1978G>A (p.Asp660Asn) c.1603G>A (p.Asp535Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28900794G>C | CA395411345 | ATP2A1 | c.1978G>C (p.Asp660His) c.1603G>C (p.Asp535His) | |
16 | g.28900794G= | CA2215885116 | ATP2A1 | c.1978G= (p.Asp660=) c.1603G= (p.Asp535=) | |
16 | g.28900794G>T | CA395411346 | ATP2A1 | c.1978G>T (p.Asp660Tyr) c.1603G>T (p.Asp535Tyr) | |
16 | g.28900795A>C | CA395411347 | ATP2A1 | c.1979A>C (p.Asp660Ala) c.1604A>C (p.Asp535Ala) | |
16 | g.28900795A>G | CA395411348 | ATP2A1 | c.1979A>G (p.Asp660Gly) c.1604A>G (p.Asp535Gly) | |
16 | g.28900795A>T | CA395411349 | ATP2A1 | c.1979A>T (p.Asp660Val) c.1604A>T (p.Asp535Val) | |
16 | g.28900796C>A | CA395411350 | ATP2A1 | c.1980C>A (p.Asp660Glu) c.1605C>A (p.Asp535Glu) | |
16 | g.28900796C= | CA2215885122 | ATP2A1 | c.1980C= (p.Asp660=) c.1605C= (p.Asp535=) | |
16 | g.28900796C>G | CA395411351 | ATP2A1 | c.1980C>G (p.Asp660Glu) c.1605C>G (p.Asp535Glu) | |
16 | g.28900796C>T | CA494874410 | ATP2A1 | c.1980C>T (p.Asp660=) c.1605C>T (p.Asp535=) | dbSNP gnomAD v4 |
16 | g.28900797C>A | CA395411352 | ATP2A1 | c.1981C>A (p.Leu661Met) c.1606C>A (p.Leu536Met) | |
16 | g.28900797C>G | CA395411353 | ATP2A1 | c.1981C>G (p.Leu661Val) c.1606C>G (p.Leu536Val) | |
16 | g.28900797C>T | CA494874411 | ATP2A1 | c.1981C>T (p.Leu661=) c.1606C>T (p.Leu536=) | |
16 | g.28900798T>A | CA395411354 | ATP2A1 | c.1982T>A (p.Leu661Gln) c.1607T>A (p.Leu536Gln) | |
16 | g.28900798T>C | CA395411355 | ATP2A1 | c.1982T>C (p.Leu661Pro) c.1607T>C (p.Leu536Pro) | |
16 | g.28900798T>G | CA395411356 | ATP2A1 | c.1982T>G (p.Leu661Arg) c.1607T>G (p.Leu536Arg) | |
16 | g.28900799G>A | CA494874412 | ATP2A1 | c.1983G>A (p.Leu661=) c.1608G>A (p.Leu536=) | dbSNP |
16 | g.28900799G>C | CA494874413 | ATP2A1 | c.1983G>C (p.Leu661=) c.1608G>C (p.Leu536=) | |
16 | g.28900799G= | CA2215885133 | ATP2A1 | c.1983G= (p.Leu661=) c.1608G= (p.Leu536=) | |
16 | g.28900799G>T | CA494874414 | ATP2A1 | c.1983G>T (p.Leu661=) c.1608G>T (p.Leu536=) | |
16 | g.28900800C>A | CA395411357 | ATP2A1 | c.1984C>A (p.Pro662Thr) c.1609C>A (p.Pro537Thr) | |
16 | g.28900800C= | CA2215885138 | ATP2A1 | c.1984C= (p.Pro662=) c.1609C= (p.Pro537=) | |
16 | g.28900800C>G | CA395411358 | ATP2A1 | c.1984C>G (p.Pro662Ala) c.1609C>G (p.Pro537Ala) | |
16 | g.28900800C>T | CA395411359 | ATP2A1 | c.1984C>T (p.Pro662Ser) c.1609C>T (p.Pro537Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900803dup | CA2632539998 | ATP2A1 | c.1987dup (p.Leu663ProfsTer3) c.1612dup (p.Leu538ProfsTer3) | gnomAD v4 |
16 | g.28900801C>A | CA395411361 | ATP2A1 | c.1985C>A (p.Pro662His) c.1610C>A (p.Pro537His) | |
16 | g.28900801C= | CA2215885143 | ATP2A1 | c.1985C= (p.Pro662=) c.1610C= (p.Pro537=) | |
16 | g.28900801C>G | CA395411360 | ATP2A1 | c.1985C>G (p.Pro662Arg) c.1610C>G (p.Pro537Arg) | |
16 | g.28900801C>T | CA7987139 | ATP2A1 | c.1985C>T (p.Pro662Leu) c.1610C>T (p.Pro537Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900802C>A | CA494874415 | ATP2A1 | c.1986C>A (p.Pro662=) c.1611C>A (p.Pro537=) | |
16 | g.28900802C>G | CA494874416 | ATP2A1 | c.1986C>G (p.Pro662=) c.1611C>G (p.Pro537=) | |
16 | g.28900802C>T | CA494874417 | ATP2A1 | c.1986C>T (p.Pro662=) c.1611C>T (p.Pro537=) | |
16 | g.28900803C>A | CA395411362 | ATP2A1 | c.1987C>A (p.Leu663Met) c.1612C>A (p.Leu538Met) | |
16 | g.28900803C= | CA2215885153 | ATP2A1 | c.1987C= (p.Leu663=) c.1612C= (p.Leu538=) | |
16 | g.28900803C>G | CA7987140 | ATP2A1 | c.1987C>G (p.Leu663Val) c.1612C>G (p.Leu538Val) | dbSNP ExAC gnomAD v2 |
16 | g.28900803C>T | CA494874418 | ATP2A1 | c.1987C>T (p.Leu663=) c.1612C>T (p.Leu538=) | |
16 | g.28900804T>A | CA395411363 | ATP2A1 | c.1988T>A (p.Leu663Gln) c.1613T>A (p.Leu538Gln) | |
16 | g.28900804T>C | CA395411364 | ATP2A1 | c.1988T>C (p.Leu663Pro) c.1613T>C (p.Leu538Pro) | gnomAD v4 |
16 | g.28900804T>G | CA7987141 | ATP2A1 | c.1988T>G (p.Leu663Arg) c.1613T>G (p.Leu538Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900804T= | CA2215885160 | ATP2A1 | c.1988T= (p.Leu663=) c.1613T= (p.Leu538=) | |
16 | g.28900805G>A | CA494874419 | ATP2A1 | c.1989G>A (p.Leu663=) c.1614G>A (p.Leu538=) | |
16 | g.28900805G>C | CA494874420 | ATP2A1 | c.1989G>C (p.Leu663=) c.1614G>C (p.Leu538=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900805G= | CA2215885166 | ATP2A1 | c.1989G= (p.Leu663=) c.1614G= (p.Leu538=) | |
16 | g.28900805G>T | CA494874421 | ATP2A1 | c.1989G>T (p.Leu663=) c.1614G>T (p.Leu538=) | |
16 | g.28900806G>A | CA7987142 | ATP2A1 | c.1990G>A (p.Ala664Thr) c.1615G>A (p.Ala539Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900806G>C | CA395411366 | ATP2A1 | c.1990G>C (p.Ala664Pro) c.1615G>C (p.Ala539Pro) | |
16 | g.28900806G= | CA2215885174 | ATP2A1 | c.1990G= (p.Ala664=) c.1615G= (p.Ala539=) | |
16 | g.28900806G>T | CA395411365 | ATP2A1 | c.1990G>T (p.Ala664Ser) c.1615G>T (p.Ala539Ser) | |
16 | g.28900807C>A | CA395411367 | ATP2A1 | c.1991C>A (p.Ala664Asp) c.1616C>A (p.Ala539Asp) | |
16 | g.28900807C>G | CA395411368 | ATP2A1 | c.1991C>G (p.Ala664Gly) c.1616C>G (p.Ala539Gly) | |
16 | g.28900807C>T | CA395411369 | ATP2A1 | c.1991C>T (p.Ala664Val) c.1616C>T (p.Ala539Val) | |
16 | g.28900808T>A | CA494874422 | ATP2A1 | c.1992T>A (p.Ala664=) c.1617T>A (p.Ala539=) | |
16 | g.28900808T>C | CA494874423 | ATP2A1 | c.1992T>C (p.Ala664=) c.1617T>C (p.Ala539=) | dbSNP |
16 | g.28900808T>G | CA494874424 | ATP2A1 | c.1992T>G (p.Ala664=) c.1617T>G (p.Ala539=) | |
16 | g.28900808T= | CA2215885182 | ATP2A1 | c.1992T= (p.Ala664=) c.1617T= (p.Ala539=) | |
16 | g.28900809G>A | CA395411370 | ATP2A1 | c.1993G>A (p.Glu665Lys) c.1618G>A (p.Glu540Lys) | gnomAD v4 |
16 | g.28900809G>C | CA395411371 | ATP2A1 | c.1993G>C (p.Glu665Gln) c.1618G>C (p.Glu540Gln) | |
16 | g.28900809G>T | CA395411372 | ATP2A1 | c.1993G>T (p.Glu665Ter) c.1618G>T (p.Glu540Ter) | |
16 | g.28900810A>C | CA395411373 | ATP2A1 | c.1994A>C (p.Glu665Ala) c.1619A>C (p.Glu540Ala) | |
16 | g.28900810A>G | CA395411374 | ATP2A1 | c.1994A>G (p.Glu665Gly) c.1619A>G (p.Glu540Gly) | |
16 | g.28900810A>T | CA395411375 | ATP2A1 | c.1994A>T (p.Glu665Val) c.1619A>T (p.Glu540Val) | |
16 | g.28900811A= | CA2215885187 | ATP2A1 | c.1995A= (p.Glu665=) c.1620A= (p.Glu540=) | |
16 | g.28900811A>C | CA395411376 | ATP2A1 | c.1995A>C (p.Glu665Asp) c.1620A>C (p.Glu540Asp) | |
16 | g.28900811A>G | CA494874425 | ATP2A1 | c.1995A>G (p.Glu665=) c.1620A>G (p.Glu540=) | dbSNP |
16 | g.28900811A>T | CA395411377 | ATP2A1 | c.1995A>T (p.Glu665Asp) c.1620A>T (p.Glu540Asp) | |
16 | g.28900812C>A | CA395411379 | ATP2A1 | c.1996C>A (p.Gln666Lys) c.1621C>A (p.Gln541Lys) | |
16 | g.28900812C= | CA2215885191 | ATP2A1 | c.1996C= (p.Gln666=) c.1621C= (p.Gln541=) | |
16 | g.28900812C>G | CA395411380 | ATP2A1 | c.1996C>G (p.Gln666Glu) c.1621C>G (p.Gln541Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900812C>T | CA395411378 | ATP2A1 | c.1996C>T (p.Gln666Ter) c.1621C>T (p.Gln541Ter) | |
16 | g.28900813A>C | CA395411382 | ATP2A1 | c.1997A>C (p.Gln666Pro) c.1622A>C (p.Gln541Pro) | |
16 | g.28900813A>G | CA395411381 | ATP2A1 | c.1997A>G (p.Gln666Arg) c.1622A>G (p.Gln541Arg) | |
16 | g.28900813A>T | CA395411383 | ATP2A1 | c.1997A>T (p.Gln666Leu) c.1622A>T (p.Gln541Leu) | |
16 | g.28900814G>A | CA494874426 | ATP2A1 | c.1998G>A (p.Gln666=) c.1623G>A (p.Gln541=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900814G>C | CA7987143 | ATP2A1 | c.1998G>C (p.Gln666His) c.1623G>C (p.Gln541His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900814G= | CA2215885205 | ATP2A1 | c.1998G= (p.Gln666=) c.1623G= (p.Gln541=) | |
16 | g.28900814G>T | CA395411384 | ATP2A1 | c.1998G>T (p.Gln666His) c.1623G>T (p.Gln541His) | COSMIC COSMIC |
16 | g.28900815C>A | CA494874427 | ATP2A1 | c.1999C>A (p.Arg667=) c.1624C>A (p.Arg542=) | |
16 | g.28900815C= | CA2215885212 | ATP2A1 | c.1999C= (p.Arg667=) c.1624C= (p.Arg542=) | |
16 | g.28900815C>G | CA395411385 | ATP2A1 | c.1999C>G (p.Arg667Gly) c.1624C>G (p.Arg542Gly) | |
16 | g.28900815C>T | CA7987144 | ATP2A1 | c.1999C>T (p.Arg667Trp) c.1624C>T (p.Arg542Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28900816G>A | CA7987145 | ATP2A1 | c.2000G>A (p.Arg667Gln) c.1625G>A (p.Arg542Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900816G>C | CA395411386 | ATP2A1 | c.2000G>C (p.Arg667Pro) c.1625G>C (p.Arg542Pro) | ClinVar gnomAD v4 |
16 | g.28900816G= | CA2215885217 | ATP2A1 | c.2000G= (p.Arg667=) c.1625G= (p.Arg542=) | |
16 | g.28900816G>T | CA395411387 | ATP2A1 | c.2000G>T (p.Arg667Leu) c.1625G>T (p.Arg542Leu) | |
16 | g.28900817G>A | CA494874428 | ATP2A1 | c.2001G>A (p.Arg667=) c.1626G>A (p.Arg542=) | |
16 | g.28900817G>C | CA494874429 | ATP2A1 | c.2001G>C (p.Arg667=) c.1626G>C (p.Arg542=) | |
16 | g.28900817G>T | CA494874430 | ATP2A1 | c.2001G>T (p.Arg667=) c.1626G>T (p.Arg542=) | |
16 | g.28900818G>A | CA395411390 | ATP2A1 | c.2002G>A (p.Glu668Lys) c.1627G>A (p.Glu543Lys) | gnomAD v4 |
16 | g.28900818G>C | CA395411388 | ATP2A1 | c.2002G>C (p.Glu668Gln) c.1627G>C (p.Glu543Gln) | |
16 | g.28900818G>T | CA395411389 | ATP2A1 | c.2002G>T (p.Glu668Ter) c.1627G>T (p.Glu543Ter) | |
16 | g.28900819A>C | CA395411391 | ATP2A1 | c.2003A>C (p.Glu668Ala) c.1628A>C (p.Glu543Ala) | |
16 | g.28900819A>G | CA395411392 | ATP2A1 | c.2003A>G (p.Glu668Gly) c.1628A>G (p.Glu543Gly) | |
16 | g.28900819A>T | CA395411393 | ATP2A1 | c.2003A>T (p.Glu668Val) c.1628A>T (p.Glu543Val) | |
16 | g.28900820A= | CA2215885222 | ATP2A1 | c.2004A= (p.Glu668=) c.1629A= (p.Glu543=) | |
16 | g.28900820A>C | CA395411394 | ATP2A1 | c.2004A>C (p.Glu668Asp) c.1629A>C (p.Glu543Asp) | |
16 | g.28900820A>G | CA494874431 | ATP2A1 | c.2004A>G (p.Glu668=) c.1629A>G (p.Glu543=) | dbSNP |
16 | g.28900820A>T | CA395411395 | ATP2A1 | c.2004A>T (p.Glu668Asp) c.1629A>T (p.Glu543Asp) | |
16 | g.28900821G>A | CA395411398 | ATP2A1 | c.2005G>A (p.Ala669Thr) c.1630G>A (p.Ala544Thr) | |
16 | g.28900821G>C | CA395411396 | ATP2A1 | c.2005G>C (p.Ala669Pro) c.1630G>C (p.Ala544Pro) | |
16 | g.28900821G>T | CA395411397 | ATP2A1 | c.2005G>T (p.Ala669Ser) c.1630G>T (p.Ala544Ser) | |
16 | g.28900822C>A | CA395411399 | ATP2A1 | c.2006C>A (p.Ala669Asp) c.1631C>A (p.Ala544Asp) | gnomAD v4 |
16 | g.28900822C>G | CA395411400 | ATP2A1 | c.2006C>G (p.Ala669Gly) c.1631C>G (p.Ala544Gly) | gnomAD v4 |
16 | g.28900822C>T | CA395411401 | ATP2A1 | c.2006C>T (p.Ala669Val) c.1631C>T (p.Ala544Val) | |
16 | g.28900823C>A | CA494874432 | ATP2A1 | c.2007C>A (p.Ala669=) c.1632C>A (p.Ala544=) | |
16 | g.28900823C>G | CA494874433 | ATP2A1 | c.2007C>G (p.Ala669=) c.1632C>G (p.Ala544=) | gnomAD v4 |
16 | g.28900823C>T | CA494874434 | ATP2A1 | c.2007C>T (p.Ala669=) c.1632C>T (p.Ala544=) | |
16 | g.28900824T>A | CA395411402 | ATP2A1 | c.2008T>A (p.Cys670Ser) c.1633T>A (p.Cys545Ser) | |
16 | g.28900824T>C | CA395411403 | ATP2A1 | c.2008T>C (p.Cys670Arg) c.1633T>C (p.Cys545Arg) | |
16 | g.28900824T>G | CA395411404 | ATP2A1 | c.2008T>G (p.Cys670Gly) c.1633T>G (p.Cys545Gly) | |
16 | g.28900825G>A | CA395411405 | ATP2A1 | c.2009G>A (p.Cys670Tyr) c.1634G>A (p.Cys545Tyr) | gnomAD v4 |
16 | g.28900825G>C | CA7987146 | ATP2A1 | c.2009G>C (p.Cys670Ser) c.1634G>C (p.Cys545Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900825G= | CA2215885225 | ATP2A1 | c.2009G= (p.Cys670=) c.1634G= (p.Cys545=) | |
16 | g.28900825G>T | CA395411406 | ATP2A1 | c.2009G>T (p.Cys670Phe) c.1634G>T (p.Cys545Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900826C>A | CA395411407 | ATP2A1 | c.2010C>A (p.Cys670Ter) c.1635C>A (p.Cys545Ter) | |
16 | g.28900826C>G | CA395411408 | ATP2A1 | c.2010C>G (p.Cys670Trp) c.1635C>G (p.Cys545Trp) | |
16 | g.28900826C>T | CA494874435 | ATP2A1 | c.2010C>T (p.Cys670=) c.1635C>T (p.Cys545=) | |
16 | g.28900827C>A | CA494874436 | ATP2A1 | c.2011C>A (p.Arg671=) c.1636C>A (p.Arg546=) | gnomAD v4 |
16 | g.28900827C= | CA2215885227 | ATP2A1 | c.2011C= (p.Arg671=) c.1636C= (p.Arg546=) | |
16 | g.28900827C>G | CA395411409 | ATP2A1 | c.2011C>G (p.Arg671Gly) c.1636C>G (p.Arg546Gly) | |
16 | g.28900827C>T | CA395411410 | ATP2A1 | c.2011C>T (p.Arg671Ter) c.1636C>T (p.Arg546Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.28900828G>A | CA7987147 | ATP2A1 | c.2012G>A (p.Arg671Gln) c.1637G>A (p.Arg546Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900828G>C | CA395411412 | ATP2A1 | c.2012G>C (p.Arg671Pro) c.1637G>C (p.Arg546Pro) | |
16 | g.28900828G= | CA2215885230 | ATP2A1 | c.2012G= (p.Arg671=) c.1637G= (p.Arg546=) | |
16 | g.28900828G>T | CA395411411 | ATP2A1 | c.2012G>T (p.Arg671Leu) c.1637G>T (p.Arg546Leu) | |
16 | g.28900829A= | CA2215885235 | ATP2A1 | c.2013A= (p.Arg671=) c.1638A= (p.Arg546=) | |
16 | g.28900829A>C | CA494874437 | ATP2A1 | c.2013A>C (p.Arg671=) c.1638A>C (p.Arg546=) | dbSNP |
16 | g.28900829A>G | CA494874438 | ATP2A1 | c.2013A>G (p.Arg671=) c.1638A>G (p.Arg546=) | |
16 | g.28900829A>T | CA494874439 | ATP2A1 | c.2013A>T (p.Arg671=) c.1638A>T (p.Arg546=) | gnomAD v4 |
16 | g.28900830C>A | CA395411413 | ATP2A1 | c.2014C>A (p.Arg672Ser) c.1639C>A (p.Arg547Ser) | |
16 | g.28900830C= | CA2215885244 | ATP2A1 | c.2014C= (p.Arg672=) c.1639C= (p.Arg547=) | |
16 | g.28900830C>G | CA395411414 | ATP2A1 | c.2014C>G (p.Arg672Gly) c.1639C>G (p.Arg547Gly) | |
16 | g.28900830C>T | CA7987148 | ATP2A1 | c.2014C>T (p.Arg672Cys) c.1639C>T (p.Arg547Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900831G>A | CA7987149 | ATP2A1 | c.2015G>A (p.Arg672His) c.1640G>A (p.Arg547His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900831G>C | CA395411415 | ATP2A1 | c.2015G>C (p.Arg672Pro) c.1640G>C (p.Arg547Pro) | |
16 | g.28900831G= | CA2215885247 | ATP2A1 | c.2015G= (p.Arg672=) c.1640G= (p.Arg547=) | |
16 | g.28900831G>T | CA395411416 | ATP2A1 | c.2015G>T (p.Arg672Leu) c.1640G>T (p.Arg547Leu) | dbSNP gnomAD v2 |
16 | g.28900832T>A | CA494874440 | ATP2A1 | c.2016T>A (p.Arg672=) c.1641T>A (p.Arg547=) | |
16 | g.28900832T>C | CA494874441 | ATP2A1 | c.2016T>C (p.Arg672=) c.1641T>C (p.Arg547=) | |
16 | g.28900832T>G | CA494874442 | ATP2A1 | c.2016T>G (p.Arg672=) c.1641T>G (p.Arg547=) | |
16 | g.28900833G>A | CA395411417 | ATP2A1 | c.2017G>A (p.Ala673Thr) c.1642G>A (p.Ala548Thr) | gnomAD v4 |
16 | g.28900833G>C | CA395411418 | ATP2A1 | c.2017G>C (p.Ala673Pro) c.1642G>C (p.Ala548Pro) | |
16 | g.28900833G>T | CA395411419 | ATP2A1 | c.2017G>T (p.Ala673Ser) c.1642G>T (p.Ala548Ser) | |
16 | g.28900834C>A | CA395411420 | ATP2A1 | c.2018C>A (p.Ala673Asp) c.1643C>A (p.Ala548Asp) | dbSNP gnomAD v4 |
16 | g.28900834C= | CA2215885262 | ATP2A1 | c.2018C= (p.Ala673=) c.1643C= (p.Ala548=) | |
16 | g.28900834C>G | CA395411421 | ATP2A1 | c.2018C>G (p.Ala673Gly) c.1643C>G (p.Ala548Gly) | |
16 | g.28900834C>T | CA395411422 | ATP2A1 | c.2018C>T (p.Ala673Val) c.1643C>T (p.Ala548Val) | |
16 | g.28900835C>A | CA494874443 | ATP2A1 | c.2019C>A (p.Ala673=) c.1644C>A (p.Ala548=) | |
16 | g.28900835C>G | CA494874444 | ATP2A1 | c.2019C>G (p.Ala673=) c.1644C>G (p.Ala548=) | |
16 | g.28900835C>T | CA494874445 | ATP2A1 | c.2019C>T (p.Ala673=) c.1644C>T (p.Ala548=) | |
16 | g.28900836T>A | CA395411424 | ATP2A1 | c.2020T>A (p.Cys674Ser) c.1645T>A (p.Cys549Ser) | |
16 | g.28900836T>C | CA395411425 | ATP2A1 | c.2020T>C (p.Cys674Arg) c.1645T>C (p.Cys549Arg) | gnomAD v4 |
16 | g.28900836T>G | CA395411423 | ATP2A1 | c.2020T>G (p.Cys674Gly) c.1645T>G (p.Cys549Gly) | |
16 | g.28900837G>A | CA279240442 | ATP2A1 | c.2021G>A (p.Cys674Tyr) c.1646G>A (p.Cys549Tyr) | ClinVar dbSNP gnomAD v4 |
16 | g.28900837G>C | CA395411426 | ATP2A1 | c.2021G>C (p.Cys674Ser) c.1646G>C (p.Cys549Ser) | |
16 | g.28900837G= | CA2215885265 | ATP2A1 | c.2021G= (p.Cys674=) c.1646G= (p.Cys549=) | |
16 | g.28900837G>T | CA395411427 | ATP2A1 | c.2021G>T (p.Cys674Phe) c.1646G>T (p.Cys549Phe) | |
16 | g.28900838C>A | CA395411428 | ATP2A1 | c.2022C>A (p.Cys674Ter) c.1647C>A (p.Cys549Ter) | |
16 | g.28900838C>G | CA395411429 | ATP2A1 | c.2022C>G (p.Cys674Trp) c.1647C>G (p.Cys549Trp) | |
16 | g.28900838C>T | CA494874446 | ATP2A1 | c.2022C>T (p.Cys674=) c.1647C>T (p.Cys549=) | |
16 | g.28900839T>A | CA395411432 | ATP2A1 | c.2023T>A (p.Cys675Ser) c.1648T>A (p.Cys550Ser) | |
16 | g.28900839T>C | CA395411430 | ATP2A1 | c.2023T>C (p.Cys675Arg) c.1648T>C (p.Cys550Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900839T>G | CA395411431 | ATP2A1 | c.2023T>G (p.Cys675Gly) c.1648T>G (p.Cys550Gly) | |
16 | g.28900839T= | CA2215885267 | ATP2A1 | c.2023T= (p.Cys675=) c.1648T= (p.Cys550=) | |
16 | g.28900840G>A | CA395411433 | ATP2A1 | c.2024G>A (p.Cys675Tyr) c.1649G>A (p.Cys550Tyr) | COSMIC COSMIC |
16 | g.28900840G>C | CA395411434 | ATP2A1 | c.2024G>C (p.Cys675Ser) c.1649G>C (p.Cys550Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900840G= | CA2215885274 | ATP2A1 | c.2024G= (p.Cys675=) c.1649G= (p.Cys550=) | |
16 | g.28900840G>T | CA395411435 | ATP2A1 | c.2024G>T (p.Cys675Phe) c.1649G>T (p.Cys550Phe) | |
16 | g.28900841C>A | CA127436 | ATP2A1 | c.2025C>A (p.Cys675Ter) c.1650C>A (p.Cys550Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900841C= | CA2215885280 | ATP2A1 | c.2025C= (p.Cys675=) c.1650C= (p.Cys550=) | |
16 | g.28900841C>G | CA395411436 | ATP2A1 | c.2025C>G (p.Cys675Trp) c.1650C>G (p.Cys550Trp) | |
16 | g.28900841C>T | CA494874447 | ATP2A1 | c.2025C>T (p.Cys675=) c.1650C>T (p.Cys550=) | |
16 | g.28900842T>A | CA395411439 | ATP2A1 | c.2026T>A (p.Phe676Ile) c.1651T>A (p.Phe551Ile) | |
16 | g.28900842T>C | CA395411437 | ATP2A1 | c.2026T>C (p.Phe676Leu) c.1651T>C (p.Phe551Leu) | |
16 | g.28900842T>G | CA395411438 | ATP2A1 | c.2026T>G (p.Phe676Val) c.1651T>G (p.Phe551Val) | |
16 | g.28900843T>A | CA395411440 | ATP2A1 | c.2027T>A (p.Phe676Tyr) c.1652T>A (p.Phe551Tyr) | |
16 | g.28900843T>C | CA395411442 | ATP2A1 | c.2027T>C (p.Phe676Ser) c.1652T>C (p.Phe551Ser) | |
16 | g.28900843T>G | CA395411441 | ATP2A1 | c.2027T>G (p.Phe676Cys) c.1652T>G (p.Phe551Cys) | |
16 | g.28900844C>A | CA395411443 | ATP2A1 | c.2028C>A (p.Phe676Leu) c.1653C>A (p.Phe551Leu) | |
16 | g.28900844C= | CA2215885298 | ATP2A1 | c.2028C= (p.Phe676=) c.1653C= (p.Phe551=) | |
16 | g.28900844C>G | CA395411444 | ATP2A1 | c.2028C>G (p.Phe676Leu) c.1653C>G (p.Phe551Leu) | |
16 | g.28900844C>T | CA7987150 | ATP2A1 | c.2028C>T (p.Phe676=) c.1653C>T (p.Phe551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900845del | CA2632540073 | ATP2A1 | c.2029del (p.Ala677ProfsTer24) c.1654del (p.Ala552ProfsTer24) | gnomAD v4 |
16 | g.28900845G>A | CA7987151 | ATP2A1 | c.2029G>A (p.Ala677Thr) c.1654G>A (p.Ala552Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900845G>C | CA395411445 | ATP2A1 | c.2029G>C (p.Ala677Pro) c.1654G>C (p.Ala552Pro) | |
16 | g.28900845G= | CA2215885302 | ATP2A1 | c.2029G= (p.Ala677=) c.1654G= (p.Ala552=) | |
16 | g.28900845G>T | CA395411446 | ATP2A1 | c.2029G>T (p.Ala677Ser) c.1654G>T (p.Ala552Ser) | ClinVar dbSNP |
16 | g.28900846C>A | CA395411447 | ATP2A1 | c.2030C>A (p.Ala677Asp) c.1655C>A (p.Ala552Asp) | |
16 | g.28900846C>G | CA395411448 | ATP2A1 | c.2030C>G (p.Ala677Gly) c.1655C>G (p.Ala552Gly) | |
16 | g.28900846C>T | CA395411449 | ATP2A1 | c.2030C>T (p.Ala677Val) c.1655C>T (p.Ala552Val) | gnomAD v4 |
16 | g.28900847C>A | CA494874450 | ATP2A1 | c.2031C>A (p.Ala677=) c.1656C>A (p.Ala552=) | |
16 | g.28900847C>G | CA494874449 | ATP2A1 | c.2031C>G (p.Ala677=) c.1656C>G (p.Ala552=) | |
16 | g.28900847C>T | CA494874448 | ATP2A1 | c.2031C>T (p.Ala677=) c.1656C>T (p.Ala552=) | gnomAD v4 |
16 | g.28900848C>A | CA395411450 | ATP2A1 | c.2032C>A (p.Arg678Ser) c.1657C>A (p.Arg553Ser) | |
16 | g.28900848C= | CA2215885311 | ATP2A1 | c.2032C= (p.Arg678=) c.1657C= (p.Arg553=) | |
16 | g.28900848C>G | CA395411451 | ATP2A1 | c.2032C>G (p.Arg678Gly) c.1657C>G (p.Arg553Gly) | |
16 | g.28900848C>T | CA395411452 | ATP2A1 | c.2032C>T (p.Arg678Cys) c.1657C>T (p.Arg553Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900849G>A | CA7987152 | ATP2A1 | c.2033G>A (p.Arg678His) c.1658G>A (p.Arg553His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900849G>C | CA395411453 | ATP2A1 | c.2033G>C (p.Arg678Pro) c.1658G>C (p.Arg553Pro) | |
16 | g.28900849G= | CA2215885315 | ATP2A1 | c.2033G= (p.Arg678=) c.1658G= (p.Arg553=) | |
16 | g.28900849G>T | CA395411454 | ATP2A1 | c.2033G>T (p.Arg678Leu) c.1658G>T (p.Arg553Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900850T>A | CA494874453 | ATP2A1 | c.2034T>A (p.Arg678=) c.1659T>A (p.Arg553=) | |
16 | g.28900850T>C | CA494874452 | ATP2A1 | c.2034T>C (p.Arg678=) c.1659T>C (p.Arg553=) | dbSNP gnomAD v4 |
16 | g.28900850T>G | CA494874451 | ATP2A1 | c.2034T>G (p.Arg678=) c.1659T>G (p.Arg553=) | |
16 | g.28900850T= | CA2215885321 | ATP2A1 | c.2034T= (p.Arg678=) c.1659T= (p.Arg553=) | |
16 | g.28900851G>A | CA395411455 | ATP2A1 | c.2035G>A (p.Val679Met) c.1660G>A (p.Val554Met) | gnomAD v4 |
16 | g.28900851G>C | CA395411456 | ATP2A1 | c.2035G>C (p.Val679Leu) c.1660G>C (p.Val554Leu) | |
16 | g.28900851G>T | CA395411457 | ATP2A1 | c.2035G>T (p.Val679Leu) c.1660G>T (p.Val554Leu) | |
16 | g.28900852T>A | CA395411458 | ATP2A1 | c.2036T>A (p.Val679Glu) c.1661T>A (p.Val554Glu) | |
16 | g.28900852T>C | CA7987153 | ATP2A1 | c.2036T>C (p.Val679Ala) c.1661T>C (p.Val554Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900852T>G | CA395411459 | ATP2A1 | c.2036T>G (p.Val679Gly) c.1661T>G (p.Val554Gly) | |
16 | g.28900852T= | CA2215885325 | ATP2A1 | c.2036T= (p.Val679=) c.1661T= (p.Val554=) | |
16 | g.28900853G>A | CA494874454 | ATP2A1 | c.2037G>A (p.Val679=) c.1662G>A (p.Val554=) | COSMIC COSMIC |
16 | g.28900853G>C | CA494874456 | ATP2A1 | c.2037G>C (p.Val679=) c.1662G>C (p.Val554=) | |
16 | g.28900853G>T | CA494874455 | ATP2A1 | c.2037G>T (p.Val679=) c.1662G>T (p.Val554=) | |
16 | g.28900854G>A | CA395411460 | ATP2A1 | c.2038G>A (p.Glu680Lys) c.1663G>A (p.Glu555Lys) | |
16 | g.28900854G>C | CA395411461 | ATP2A1 | c.2038G>C (p.Glu680Gln) c.1663G>C (p.Glu555Gln) | |
16 | g.28900854G>T | CA395411462 | ATP2A1 | c.2038G>T (p.Glu680Ter) c.1663G>T (p.Glu555Ter) | |
16 | g.28900855A>C | CA395411463 | ATP2A1 | c.2039A>C (p.Glu680Ala) c.1664A>C (p.Glu555Ala) | |
16 | g.28900855A>G | CA395411464 | ATP2A1 | c.2039A>G (p.Glu680Gly) c.1664A>G (p.Glu555Gly) | |
16 | g.28900855A>T | CA395411465 | ATP2A1 | c.2039A>T (p.Glu680Val) c.1664A>T (p.Glu555Val) | COSMIC |
16 | g.28900856G>A | CA494874457 | ATP2A1 | c.2040G>A (p.Glu680=) c.1665G>A (p.Glu555=) | |
16 | g.28900856G>C | CA395411466 | ATP2A1 | c.2040G>C (p.Glu680Asp) c.1665G>C (p.Glu555Asp) | |
16 | g.28900856G= | CA2215885331 | ATP2A1 | c.2040G= (p.Glu680=) c.1665G= (p.Glu555=) | |
16 | g.28900856G>T | CA7987154 | ATP2A1 | c.2040G>T (p.Glu680Asp) c.1665G>T (p.Glu555Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900857C>A | CA395411467 | ATP2A1 | c.2041C>A (p.Pro681Thr) c.1666C>A (p.Pro556Thr) | |
16 | g.28900857C>G | CA395411468 | ATP2A1 | c.2041C>G (p.Pro681Ala) c.1666C>G (p.Pro556Ala) | gnomAD v4 |
16 | g.28900857C>T | CA395411469 | ATP2A1 | c.2041C>T (p.Pro681Ser) c.1666C>T (p.Pro556Ser) | |
16 | g.28900858C>A | CA395411470 | ATP2A1 | c.2042C>A (p.Pro681His) c.1667C>A (p.Pro556His) | |
16 | g.28900858C>G | CA395411471 | ATP2A1 | c.2042C>G (p.Pro681Arg) c.1667C>G (p.Pro556Arg) | |
16 | g.28900858C>T | CA395411472 | ATP2A1 | c.2042C>T (p.Pro681Leu) c.1667C>T (p.Pro556Leu) | |
16 | g.28900859C>A | CA494874458 | ATP2A1 | c.2043C>A (p.Pro681=) c.1668C>A (p.Pro556=) | |
16 | g.28900859C= | CA2215885334 | ATP2A1 | c.2043C= (p.Pro681=) c.1668C= (p.Pro556=) | |
16 | g.28900859C>G | CA494874459 | ATP2A1 | c.2043C>G (p.Pro681=) c.1668C>G (p.Pro556=) | dbSNP |
16 | g.28900859C>T | CA494874460 | ATP2A1 | c.2043C>T (p.Pro681=) c.1668C>T (p.Pro556=) | |
16 | g.28900860T>A | CA395411473 | ATP2A1 | c.2044T>A (p.Ser682Thr) c.1669T>A (p.Ser557Thr) | |
16 | g.28900860T>C | CA395411474 | ATP2A1 | c.2044T>C (p.Ser682Pro) c.1669T>C (p.Ser557Pro) | |
16 | g.28900860T>G | CA395411475 | ATP2A1 | c.2044T>G (p.Ser682Ala) c.1669T>G (p.Ser557Ala) | |
16 | g.28900861C>A | CA395411476 | ATP2A1 | c.2045C>A (p.Ser682Ter) c.1670C>A (p.Ser557Ter) | |
16 | g.28900861C= | CA2215885340 | ATP2A1 | c.2045C= (p.Ser682=) c.1670C= (p.Ser557=) | |
16 | g.28900861C>G | CA395411477 | ATP2A1 | c.2045C>G (p.Ser682Trp) c.1670C>G (p.Ser557Trp) | |
16 | g.28900861C>T | CA7987155 | ATP2A1 | c.2045C>T (p.Ser682Leu) c.1670C>T (p.Ser557Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900862G>A | CA7987156 | ATP2A1 | c.2046G>A (p.Ser682=) c.1671G>A (p.Ser557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900862G>C | CA494874261 | ATP2A1 | c.2046G>C (p.Ser682=) c.1671G>C (p.Ser557=) | dbSNP |
16 | g.28900862G= | CA2215885352 | ATP2A1 | c.2046G= (p.Ser682=) c.1671G= (p.Ser557=) | |
16 | g.28900862G>T | CA494874262 | ATP2A1 | c.2046G>T (p.Ser682=) c.1671G>T (p.Ser557=) | |
16 | g.28900863C>A | CA395411480 | ATP2A1 | c.2047C>A (p.His683Asn) c.1672C>A (p.His558Asn) | |
16 | g.28900863C>G | CA395411479 | ATP2A1 | c.2047C>G (p.His683Asp) c.1672C>G (p.His558Asp) | |
16 | g.28900863C>T | CA395411478 | ATP2A1 | c.2047C>T (p.His683Tyr) c.1672C>T (p.His558Tyr) | |
16 | g.28900864A>C | CA395411481 | ATP2A1 | c.2048A>C (p.His683Pro) c.1673A>C (p.His558Pro) | |
16 | g.28900864A>G | CA395411482 | ATP2A1 | c.2048A>G (p.His683Arg) c.1673A>G (p.His558Arg) | gnomAD v4 |
16 | g.28900864A>T | CA395411483 | ATP2A1 | c.2048A>T (p.His683Leu) c.1673A>T (p.His558Leu) | |
16 | g.28900865C>A | CA395411484 | ATP2A1 | c.2049C>A (p.His683Gln) c.1674C>A (p.His558Gln) | gnomAD v4 |
16 | g.28900865C>G | CA395411485 | ATP2A1 | c.2049C>G (p.His683Gln) c.1674C>G (p.His558Gln) | |
16 | g.28900865C>T | CA494874263 | ATP2A1 | c.2049C>T (p.His683=) c.1674C>T (p.His558=) | |
16 | g.28900866A= | CA2215885361 | ATP2A1 | c.2050A= (p.Lys684=) c.1675A= (p.Lys559=) | |
16 | g.28900866A>C | CA7987157 | ATP2A1 | c.2050A>C (p.Lys684Gln) c.1675A>C (p.Lys559Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900866A>G | CA395411486 | ATP2A1 | c.2050A>G (p.Lys684Glu) c.1675A>G (p.Lys559Glu) | gnomAD v4 |
16 | g.28900866A>T | CA395411487 | ATP2A1 | c.2050A>T (p.Lys684Ter) c.1675A>T (p.Lys559Ter) | |
16 | g.28900867A>C | CA395411488 | ATP2A1 | c.2051A>C (p.Lys684Thr) c.1676A>C (p.Lys559Thr) | |
16 | g.28900867A>G | CA395411489 | ATP2A1 | c.2051A>G (p.Lys684Arg) c.1676A>G (p.Lys559Arg) | |
16 | g.28900867A>T | CA395411490 | ATP2A1 | c.2051A>T (p.Lys684Met) c.1676A>T (p.Lys559Met) | |
16 | g.28900868G>A | CA494874264 | ATP2A1 | c.2052G>A (p.Lys684=) c.1677G>A (p.Lys559=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900868G>C | CA395411491 | ATP2A1 | c.2052G>C (p.Lys684Asn) c.1677G>C (p.Lys559Asn) | |
16 | g.28900868G= | CA2215885368 | ATP2A1 | c.2052G= (p.Lys684=) c.1677G= (p.Lys559=) | |
16 | g.28900868G>T | CA395411492 | ATP2A1 | c.2052G>T (p.Lys684Asn) c.1677G>T (p.Lys559Asn) | |
16 | g.28900869T>A | CA395411494 | ATP2A1 | c.2053T>A (p.Ser685Thr) c.1678T>A (p.Ser560Thr) | |
16 | g.28900869T>C | CA395411495 | ATP2A1 | c.2053T>C (p.Ser685Pro) c.1678T>C (p.Ser560Pro) | |
16 | g.28900869T>G | CA395411493 | ATP2A1 | c.2053T>G (p.Ser685Ala) c.1678T>G (p.Ser560Ala) | |
16 | g.28900870C>A | CA395411496 | ATP2A1 | c.2054C>A (p.Ser685Tyr) c.1679C>A (p.Ser560Tyr) | |
16 | g.28900870C>G | CA395411498 | ATP2A1 | c.2054C>G (p.Ser685Cys) c.1679C>G (p.Ser560Cys) | gnomAD v4 |
16 | g.28900870C>T | CA395411497 | ATP2A1 | c.2054C>T (p.Ser685Phe) c.1679C>T (p.Ser560Phe) | COSMIC |
16 | g.28900871del | CA2632540102 | ATP2A1 | c.2055del (p.Lys686ArgfsTer15) c.1680del (p.Lys561ArgfsTer15) | gnomAD v4 |
16 | g.28900871C>A | CA494874265 | ATP2A1 | c.2055C>A (p.Ser685=) c.1680C>A (p.Ser560=) | |
16 | g.28900871C= | CA2215885374 | ATP2A1 | c.2055C= (p.Ser685=) c.1680C= (p.Ser560=) | |
16 | g.28900871C>G | CA494874266 | ATP2A1 | c.2055C>G (p.Ser685=) c.1680C>G (p.Ser560=) | dbSNP |
16 | g.28900871C>T | CA494874267 | ATP2A1 | c.2055C>T (p.Ser685=) c.1680C>T (p.Ser560=) | |
16 | g.28900872A= | CA2215885407 | ATP2A1 | c.2056A= (p.Lys686=) c.1681A= (p.Lys561=) | |
16 | g.28900872A>C | CA395411499 | ATP2A1 | c.2056A>C (p.Lys686Gln) c.1681A>C (p.Lys561Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900872A>G | CA395411501 | ATP2A1 | c.2056A>G (p.Lys686Glu) c.1681A>G (p.Lys561Glu) | gnomAD v4 |
16 | g.28900872A>T | CA395411500 | ATP2A1 | c.2056A>T (p.Lys686Ter) c.1681A>T (p.Lys561Ter) | |
16 | g.28900872_28900873del | CA2573152281 | ATP2A1 | c.2056_2057del (p.Lys686AspfsTer10) c.1681_1682del (p.Lys561AspfsTer10) | ClinVar dbSNP |
16 | g.28900873A>C | CA395411502 | ATP2A1 | c.2057A>C (p.Lys686Thr) c.1682A>C (p.Lys561Thr) | gnomAD v4 |
16 | g.28900873A>G | CA395411503 | ATP2A1 | c.2057A>G (p.Lys686Arg) c.1682A>G (p.Lys561Arg) | |
16 | g.28900873A>T | CA395411504 | ATP2A1 | c.2057A>T (p.Lys686Met) c.1682A>T (p.Lys561Met) | |
16 | g.28900874G>A | CA494874268 | ATP2A1 | c.2058G>A (p.Lys686=) c.1683G>A (p.Lys561=) | |
16 | g.28900874G>C | CA395411505 | ATP2A1 | c.2058G>C (p.Lys686Asn) c.1683G>C (p.Lys561Asn) | |
16 | g.28900874G>T | CA395411506 | ATP2A1 | c.2058G>T (p.Lys686Asn) c.1683G>T (p.Lys561Asn) | |
16 | g.28900875A= | CA2215885413 | ATP2A1 | c.2059A= (p.Ile687=) c.1684A= (p.Ile562=) | |
16 | g.28900875A>C | CA395411507 | ATP2A1 | c.2059A>C (p.Ile687Leu) c.1684A>C (p.Ile562Leu) | |
16 | g.28900875A>G | CA395411508 | ATP2A1 | c.2059A>G (p.Ile687Val) c.1684A>G (p.Ile562Val) | |
16 | g.28900875A>T | CA395411509 | ATP2A1 | c.2059A>T (p.Ile687Phe) c.1684A>T (p.Ile562Phe) | dbSNP |
16 | g.28900876T>A | CA395411510 | ATP2A1 | c.2060T>A (p.Ile687Asn) c.1685T>A (p.Ile562Asn) | |
16 | g.28900876T>C | CA7987158 | ATP2A1 | c.2060T>C (p.Ile687Thr) c.1685T>C (p.Ile562Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900876T>G | CA395411511 | ATP2A1 | c.2060T>G (p.Ile687Ser) c.1685T>G (p.Ile562Ser) | |
16 | g.28900876T= | CA2215885421 | ATP2A1 | c.2060T= (p.Ile687=) c.1685T= (p.Ile562=) | |
16 | g.28900877T>A | CA494874269 | ATP2A1 | c.2061T>A (p.Ile687=) c.1686T>A (p.Ile562=) | |
16 | g.28900877T>C | CA494874270 | ATP2A1 | c.2061T>C (p.Ile687=) c.1686T>C (p.Ile562=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900877T>G | CA395411512 | ATP2A1 | c.2061T>G (p.Ile687Met) c.1686T>G (p.Ile562Met) | |
16 | g.28900877T= | CA2215885441 | ATP2A1 | c.2061T= (p.Ile687=) c.1686T= (p.Ile562=) | |
16 | g.28900877_28900878delinsTG | CA2215885444 | ATP2A1 | c.2061_2062delinsTG (p.Ile687=) c.1686_1687delinsTG (p.Ile562=) | |
16 | g.28900878del | CA919685943 | ATP2A1 | c.2062del (p.Val688TrpfsTer13) c.1687del (p.Val563TrpfsTer13) | dbSNP |
16 | g.28900878G>A | CA395411515 | ATP2A1 | c.2062G>A (p.Val688Met) c.1687G>A (p.Val563Met) | dbSNP |
16 | g.28900878G>C | CA395411513 | ATP2A1 | c.2062G>C (p.Val688Leu) c.1687G>C (p.Val563Leu) | |
16 | g.28900878G= | CA2215885455 | ATP2A1 | c.2062G= (p.Val688=) c.1687G= (p.Val563=) | |
16 | g.28900878G>T | CA395411514 | ATP2A1 | c.2062G>T (p.Val688Leu) c.1687G>T (p.Val563Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900879T>A | CA395411516 | ATP2A1 | c.2063T>A (p.Val688Glu) c.1688T>A (p.Val563Glu) | |
16 | g.28900879T>C | CA395411517 | ATP2A1 | c.2063T>C (p.Val688Ala) c.1688T>C (p.Val563Ala) | |
16 | g.28900879T>G | CA395411518 | ATP2A1 | c.2063T>G (p.Val688Gly) c.1688T>G (p.Val563Gly) | |
16 | g.28900879_28900880delinsTG | CA2215885458 | ATP2A1 | c.2063_2064delinsTG (p.Val688=) c.1688_1689delinsTG (p.Val563=) | |
16 | g.28900880G>A | CA494874271 | ATP2A1 | c.2064G>A (p.Val688=) c.1689G>A (p.Val563=) | gnomAD v4 |
16 | g.28900880G>C | CA494874272 | ATP2A1 | c.2064G>C (p.Val688=) c.1689G>C (p.Val563=) | |
16 | g.28900880G>T | CA494874273 | ATP2A1 | c.2064G>T (p.Val688=) c.1689G>T (p.Val563=) | |
16 | g.28900881del | CA7987159 | ATP2A1 | c.2065del (p.Glu689SerfsTer12) c.1690del (p.Glu564SerfsTer12) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900881G>A | CA395411519 | ATP2A1 | c.2065G>A (p.Glu689Lys) c.1690G>A (p.Glu564Lys) | |
16 | g.28900881G>C | CA395411520 | ATP2A1 | c.2065G>C (p.Glu689Gln) c.1690G>C (p.Glu564Gln) | |
16 | g.28900881G>T | CA395411521 | ATP2A1 | c.2065G>T (p.Glu689Ter) c.1690G>T (p.Glu564Ter) | |
16 | g.28900882A>C | CA395411522 | ATP2A1 | c.2066A>C (p.Glu689Ala) c.1691A>C (p.Glu564Ala) | |
16 | g.28900882A>G | CA395411523 | ATP2A1 | c.2066A>G (p.Glu689Gly) c.1691A>G (p.Glu564Gly) | |
16 | g.28900882A>T | CA395411524 | ATP2A1 | c.2066A>T (p.Glu689Val) c.1691A>T (p.Glu564Val) | |
16 | g.28900883G>A | CA494874274 | ATP2A1 | c.2067G>A (p.Glu689=) c.1692G>A (p.Glu564=) | |
16 | g.28900883G>C | CA395411525 | ATP2A1 | c.2067G>C (p.Glu689Asp) c.1692G>C (p.Glu564Asp) | |
16 | g.28900883G>T | CA395411526 | ATP2A1 | c.2067G>T (p.Glu689Asp) c.1692G>T (p.Glu564Asp) | |
16 | g.28900884T>A | CA395411527 | ATP2A1 | c.2068T>A (p.Tyr690Asn) c.1693T>A (p.Tyr565Asn) | dbSNP |
16 | g.28900884T>C | CA395411528 | ATP2A1 | c.2068T>C (p.Tyr690His) c.1693T>C (p.Tyr565His) | |
16 | g.28900884T>G | CA395411529 | ATP2A1 | c.2068T>G (p.Tyr690Asp) c.1693T>G (p.Tyr565Asp) | |
16 | g.28900884T= | CA2215885459 | ATP2A1 | c.2068T= (p.Tyr690=) c.1693T= (p.Tyr565=) | |
16 | g.28900885A= | CA2215885460 | ATP2A1 | c.2069A= (p.Tyr690=) c.1694A= (p.Tyr565=) | |
16 | g.28900885A>C | CA395411530 | ATP2A1 | c.2069A>C (p.Tyr690Ser) c.1694A>C (p.Tyr565Ser) | |
16 | g.28900885A>G | CA395411531 | ATP2A1 | c.2069A>G (p.Tyr690Cys) c.1694A>G (p.Tyr565Cys) | gnomAD v4 |
16 | g.28900885A>T | CA395411532 | ATP2A1 | c.2069A>T (p.Tyr690Phe) c.1694A>T (p.Tyr565Phe) | dbSNP |
16 | g.28900886C>A | CA395411533 | ATP2A1 | c.2070C>A (p.Tyr690Ter) c.1695C>A (p.Tyr565Ter) | |
16 | g.28900886C= | CA2215885461 | ATP2A1 | c.2070C= (p.Tyr690=) c.1695C= (p.Tyr565=) | |
16 | g.28900886C>G | CA395411534 | ATP2A1 | c.2070C>G (p.Tyr690Ter) c.1695C>G (p.Tyr565Ter) | |
16 | g.28900886C>T | CA494874275 | ATP2A1 | c.2070C>T (p.Tyr690=) c.1695C>T (p.Tyr565=) | dbSNP gnomAD v4 |
16 | g.28900887C>A | CA395411535 | ATP2A1 | c.2071C>A (p.Leu691Met) c.1696C>A (p.Leu566Met) | |
16 | g.28900887C= | CA2215885462 | ATP2A1 | c.2071C= (p.Leu691=) c.1696C= (p.Leu566=) | |
16 | g.28900887C>G | CA395411536 | ATP2A1 | c.2071C>G (p.Leu691Val) c.1696C>G (p.Leu566Val) | |
16 | g.28900887C>T | CA494874276 | ATP2A1 | c.2071C>T (p.Leu691=) c.1696C>T (p.Leu566=) | dbSNP |
16 | g.28900888T>A | CA395411537 | ATP2A1 | c.2072T>A (p.Leu691Gln) c.1697T>A (p.Leu566Gln) | |
16 | g.28900888T>C | CA395411538 | ATP2A1 | c.2072T>C (p.Leu691Pro) c.1697T>C (p.Leu566Pro) | |
16 | g.28900888T>G | CA395411539 | ATP2A1 | c.2072T>G (p.Leu691Arg) c.1697T>G (p.Leu566Arg) | |
16 | g.28900889G>A | CA494874277 | ATP2A1 | c.2073G>A (p.Leu691=) c.1698G>A (p.Leu566=) | ClinVar dbSNP |
16 | g.28900889G>C | CA494874278 | ATP2A1 | c.2073G>C (p.Leu691=) c.1698G>C (p.Leu566=) | |
16 | g.28900889G= | CA2215885463 | ATP2A1 | c.2073G= (p.Leu691=) c.1698G= (p.Leu566=) | |
16 | g.28900889G>T | CA494874279 | ATP2A1 | c.2073G>T (p.Leu691=) c.1698G>T (p.Leu566=) | |
16 | g.28900890C>A | CA395411542 | ATP2A1 | c.2074C>A (p.Gln692Lys) c.1699C>A (p.Gln567Lys) | |
16 | g.28900890C>G | CA395411540 | ATP2A1 | c.2074C>G (p.Gln692Glu) c.1699C>G (p.Gln567Glu) | |
16 | g.28900890C>T | CA395411541 | ATP2A1 | c.2074C>T (p.Gln692Ter) c.1699C>T (p.Gln567Ter) | |
16 | g.28900891A= | CA2215885464 | ATP2A1 | c.2075A= (p.Gln692=) c.1700A= (p.Gln567=) | |
16 | g.28900891A>C | CA395411543 | ATP2A1 | c.2075A>C (p.Gln692Pro) c.1700A>C (p.Gln567Pro) | |
16 | g.28900891A>G | CA395411544 | ATP2A1 | c.2075A>G (p.Gln692Arg) c.1700A>G (p.Gln567Arg) | ClinVar dbSNP gnomAD v2 |
16 | g.28900891A>T | CA395411545 | ATP2A1 | c.2075A>T (p.Gln692Leu) c.1700A>T (p.Gln567Leu) | |
16 | g.28900892G>A | CA494874280 | ATP2A1 | c.2076G>A (p.Gln692=) c.1701G>A (p.Gln567=) | |
16 | g.28900892G>C | CA395411546 | ATP2A1 | c.2076G>C (p.Gln692His) c.1701G>C (p.Gln567His) | |
16 | g.28900892G>T | CA395411547 | ATP2A1 | c.2076G>T (p.Gln692His) c.1701G>T (p.Gln567His) | |
16 | g.28900893T>A | CA395411548 | ATP2A1 | c.2077T>A (p.Ser693Thr) c.1702T>A (p.Ser568Thr) | |
16 | g.28900893T>C | CA395411549 | ATP2A1 | c.2077T>C (p.Ser693Pro) c.1702T>C (p.Ser568Pro) | |
16 | g.28900893T>G | CA7987160 | ATP2A1 | c.2077T>G (p.Ser693Ala) c.1702T>G (p.Ser568Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900893T= | CA2215885465 | ATP2A1 | c.2077T= (p.Ser693=) c.1702T= (p.Ser568=) |