Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150950123C>ACA369855889KCNH2c.2398+45G>T (p.=)
c.1423G>T (p.Ala475Ser)
c.2443G>T (p.Ala815Ser)
c.1378+45G>T (p.=)
c.2098+45G>T (p.=)
c.2248+45G>T (p.=)
c.2221+45G>T (p.=)
c.2095G>T (p.Ala699Ser)
n.1730G>T
n.2075G>T
n.2666G>T
7g.150950123C>GCA369855891KCNH2c.2398+45G>C (p.=)
c.1423G>C (p.Ala475Pro)
c.2443G>C (p.Ala815Pro)
c.1378+45G>C (p.=)
c.2098+45G>C (p.=)
c.2248+45G>C (p.=)
c.2221+45G>C (p.=)
c.2095G>C (p.Ala699Pro)
n.1730G>C
n.2075G>C
n.2666G>C
7g.150950123C>TCA369855890KCNH2c.2398+45G>A (p.=)
c.1423G>A (p.Ala475Thr)
c.2443G>A (p.Ala815Thr)
c.1378+45G>A (p.=)
c.2098+45G>A (p.=)
c.2248+45G>A (p.=)
c.2221+45G>A (p.=)
c.2095G>A (p.Ala699Thr)
n.1730G>A
n.2075G>A
n.2666G>A
7g.150950125G>ACA369855892KCNH2c.2398+43C>T (p.=)
c.1421C>T (p.Ala474Val)
c.2441C>T (p.Ala814Val)
c.1378+43C>T (p.=)
c.2098+43C>T (p.=)
c.2248+43C>T (p.=)
c.2221+43C>T (p.=)
c.2093C>T (p.Ala698Val)
n.1728C>T
n.2073C>T
n.2664C>T
7g.150950125G>CCA369855893KCNH2c.2398+43C>G (p.=)
c.1421C>G (p.Ala474Gly)
c.2441C>G (p.Ala814Gly)
c.1378+43C>G (p.=)
c.2098+43C>G (p.=)
c.2248+43C>G (p.=)
c.2221+43C>G (p.=)
c.2093C>G (p.Ala698Gly)
n.1728C>G
n.2073C>G
n.2664C>G
7g.150950125G>TCA369855894KCNH2c.2398+43C>A (p.=)
c.1421C>A (p.Ala474Glu)
c.2441C>A (p.Ala814Glu)
c.1378+43C>A (p.=)
c.2098+43C>A (p.=)
c.2248+43C>A (p.=)
c.2221+43C>A (p.=)
c.2093C>A (p.Ala698Glu)
n.1728C>A
n.2073C>A
n.2664C>A
7g.150950126C>ACA369855895KCNH2c.2398+42G>T (p.=)
c.1420G>T (p.Ala474Ser)
c.2440G>T (p.Ala814Ser)
c.1378+42G>T (p.=)
c.2098+42G>T (p.=)
c.2248+42G>T (p.=)
c.2221+42G>T (p.=)
c.2092G>T (p.Ala698Ser)
n.1727G>T
n.2072G>T
n.2663G>T
7g.150950126C>GCA369855896KCNH2c.2398+42G>C (p.=)
c.1420G>C (p.Ala474Pro)
c.2440G>C (p.Ala814Pro)
c.1378+42G>C (p.=)
c.2098+42G>C (p.=)
c.2248+42G>C (p.=)
c.2221+42G>C (p.=)
c.2092G>C (p.Ala698Pro)
n.1727G>C
n.2072G>C
n.2663G>C
7g.150950126C>TCA071442KCNH2c.2398+42G>A (p.=)
c.1420G>A (p.Ala474Thr)
c.2440G>A (p.Ala814Thr)
c.1378+42G>A (p.=)
c.2098+42G>A (p.=)
c.2248+42G>A (p.=)
c.2221+42G>A (p.=)
c.2092G>A (p.Ala698Thr)
n.1727G>A
n.2072G>A
n.2663G>A
7g.150950127A>CCA579075450KCNH2c.2398+41T>G (p.=)
c.1419T>G (p.Ser473=)
c.2439T>G (p.Ser813=)
c.1378+41T>G (p.=)
c.2098+41T>G (p.=)
c.2248+41T>G (p.=)
c.2221+41T>G (p.=)
c.2091T>G (p.Ser697=)
n.1726T>G
n.2071T>G
n.2662T>G
gnomAD
7g.150950128G>ACA369855897KCNH2c.2398+40C>T (p.=)
c.1418C>T (p.Ser473Phe)
c.2438C>T (p.Ser813Phe)
c.1378+40C>T (p.=)
c.2098+40C>T (p.=)
c.2248+40C>T (p.=)
c.2221+40C>T (p.=)
c.2090C>T (p.Ser697Phe)
n.1725C>T
n.2070C>T
n.2661C>T
7g.150950128G>CCA369855898KCNH2c.2398+40C>G (p.=)
c.1418C>G (p.Ser473Cys)
c.2438C>G (p.Ser813Cys)
c.1378+40C>G (p.=)
c.2098+40C>G (p.=)
c.2248+40C>G (p.=)
c.2221+40C>G (p.=)
c.2090C>G (p.Ser697Cys)
n.1725C>G
n.2070C>G
n.2661C>G
7g.150950128G>TCA369855899KCNH2c.2398+40C>A (p.=)
c.1418C>A (p.Ser473Tyr)
c.2438C>A (p.Ser813Tyr)
c.1378+40C>A (p.=)
c.2098+40C>A (p.=)
c.2248+40C>A (p.=)
c.2221+40C>A (p.=)
c.2090C>A (p.Ser697Tyr)
n.1725C>A
n.2070C>A
n.2661C>A
7g.150950129A>CCA369855900KCNH2c.2398+39T>G (p.=)
c.1417T>G (p.Ser473Ala)
c.2437T>G (p.Ser813Ala)
c.1378+39T>G (p.=)
c.2098+39T>G (p.=)
c.2248+39T>G (p.=)
c.2221+39T>G (p.=)
c.2089T>G (p.Ser697Ala)
n.1724T>G
n.2069T>G
n.2660T>G
7g.150950129A>GCA369855901KCNH2c.2398+39T>C (p.=)
c.1417T>C (p.Ser473Pro)
c.2437T>C (p.Ser813Pro)
c.1378+39T>C (p.=)
c.2098+39T>C (p.=)
c.2248+39T>C (p.=)
c.2221+39T>C (p.=)
c.2089T>C (p.Ser697Pro)
n.1724T>C
n.2069T>C
n.2660T>C
7g.150950129A>TCA369855902KCNH2c.2398+39T>A (p.=)
c.1417T>A (p.Ser473Thr)
c.2437T>A (p.Ser813Thr)
c.1378+39T>A (p.=)
c.2098+39T>A (p.=)
c.2248+39T>A (p.=)
c.2221+39T>A (p.=)
c.2089T>A (p.Ser697Thr)
n.1724T>A
n.2069T>A
n.2660T>A
7g.150950130G>CCA169075643KCNH2c.2398+38C>G (p.=)
c.1416C>G (p.Pro472=)
c.2436C>G (p.Pro812=)
c.1378+38C>G (p.=)
c.2098+38C>G (p.=)
c.2248+38C>G (p.=)
c.2221+38C>G (p.=)
c.2088C>G (p.Pro696=)
n.1723C>G
n.2068C>G
n.2659C>G
dbSNP gnomAD
7g.150950131G>ACA369855905KCNH2c.2398+37C>T (p.=)
c.1415C>T (p.Pro472Leu)
c.2435C>T (p.Pro812Leu)
c.1378+37C>T (p.=)
c.2098+37C>T (p.=)
c.2248+37C>T (p.=)
c.2221+37C>T (p.=)
c.2087C>T (p.Pro696Leu)
n.1722C>T
n.2067C>T
n.2658C>T
gnomAD
7g.150950131G>CCA369855903KCNH2c.2398+37C>G (p.=)
c.1415C>G (p.Pro472Arg)
c.2435C>G (p.Pro812Arg)
c.1378+37C>G (p.=)
c.2098+37C>G (p.=)
c.2248+37C>G (p.=)
c.2221+37C>G (p.=)
c.2087C>G (p.Pro696Arg)
n.1722C>G
n.2067C>G
n.2658C>G
7g.150950131G>TCA369855904KCNH2c.2398+37C>A (p.=)
c.1415C>A (p.Pro472His)
c.2435C>A (p.Pro812His)
c.1378+37C>A (p.=)
c.2098+37C>A (p.=)
c.2248+37C>A (p.=)
c.2221+37C>A (p.=)
c.2087C>A (p.Pro696His)
n.1722C>A
n.2067C>A
n.2658C>A
7g.150950132G>ACA369855906KCNH2c.2398+36C>T (p.=)
c.1414C>T (p.Pro472Ser)
c.2434C>T (p.Pro812Ser)
c.1378+36C>T (p.=)
c.2098+36C>T (p.=)
c.2248+36C>T (p.=)
c.2221+36C>T (p.=)
c.2086C>T (p.Pro696Ser)
n.1721C>T
n.2066C>T
n.2657C>T
7g.150950132G>CCA369855907KCNH2c.2398+36C>G (p.=)
c.1414C>G (p.Pro472Ala)
c.2434C>G (p.Pro812Ala)
c.1378+36C>G (p.=)
c.2098+36C>G (p.=)
c.2248+36C>G (p.=)
c.2221+36C>G (p.=)
c.2086C>G (p.Pro696Ala)
n.1721C>G
n.2066C>G
n.2657C>G
7g.150950132G>TCA369855908KCNH2c.2398+36C>A (p.=)
c.1414C>A (p.Pro472Thr)
c.2434C>A (p.Pro812Thr)
c.1378+36C>A (p.=)
c.2098+36C>A (p.=)
c.2248+36C>A (p.=)
c.2221+36C>A (p.=)
c.2086C>A (p.Pro696Thr)
n.1721C>A
n.2066C>A
n.2657C>A
7g.150950133C>ACA369855909KCNH2c.2398+35G>T (p.=)
c.1413G>T (p.Met471Ile)
c.2433G>T (p.Met811Ile)
c.1378+35G>T (p.=)
c.2098+35G>T (p.=)
c.2248+35G>T (p.=)
c.2221+35G>T (p.=)
c.2085G>T (p.Met695Ile)
n.1720G>T
n.2065G>T
n.2656G>T
7g.150950133C>GCA369855910KCNH2c.2398+35G>C (p.=)
c.1413G>C (p.Met471Ile)
c.2433G>C (p.Met811Ile)
c.1378+35G>C (p.=)
c.2098+35G>C (p.=)
c.2248+35G>C (p.=)
c.2221+35G>C (p.=)
c.2085G>C (p.Met695Ile)
n.1720G>C
n.2065G>C
n.2656G>C
7g.150950133C>TCA369855911KCNH2c.2398+35G>A (p.=)
c.1413G>A (p.Met471Ile)
c.2433G>A (p.Met811Ile)
c.1378+35G>A (p.=)
c.2098+35G>A (p.=)
c.2248+35G>A (p.=)
c.2221+35G>A (p.=)
c.2085G>A (p.Met695Ile)
n.1720G>A
n.2065G>A
n.2656G>A
7g.150950134A>CCA369855912KCNH2c.2398+34T>G (p.=)
c.1412T>G (p.Met471Arg)
c.2432T>G (p.Met811Arg)
c.1378+34T>G (p.=)
c.2098+34T>G (p.=)
c.2248+34T>G (p.=)
c.2221+34T>G (p.=)
c.2084T>G (p.Met695Arg)
n.1719T>G
n.2064T>G
n.2655T>G
7g.150950134A>GCA369855913KCNH2c.2398+34T>C (p.=)
c.1412T>C (p.Met471Thr)
c.2432T>C (p.Met811Thr)
c.1378+34T>C (p.=)
c.2098+34T>C (p.=)
c.2248+34T>C (p.=)
c.2221+34T>C (p.=)
c.2084T>C (p.Met695Thr)
n.1719T>C
n.2064T>C
n.2655T>C
7g.150950134A>TCA369855914KCNH2c.2398+34T>A (p.=)
c.1412T>A (p.Met471Lys)
c.2432T>A (p.Met811Lys)
c.1378+34T>A (p.=)
c.2098+34T>A (p.=)
c.2248+34T>A (p.=)
c.2221+34T>A (p.=)
c.2084T>A (p.Met695Lys)
n.1719T>A
n.2064T>A
n.2655T>A
7g.150950135T>ACA369855915KCNH2c.2398+33A>T (p.=)
c.1411A>T (p.Met471Leu)
c.2431A>T (p.Met811Leu)
c.1378+33A>T (p.=)
c.2098+33A>T (p.=)
c.2248+33A>T (p.=)
c.2221+33A>T (p.=)
c.2083A>T (p.Met695Leu)
n.1718A>T
n.2063A>T
n.2654A>T
7g.150950135T>CCA369855916KCNH2c.2398+33A>G (p.=)
c.1411A>G (p.Met471Val)
c.2431A>G (p.Met811Val)
c.1378+33A>G (p.=)
c.2098+33A>G (p.=)
c.2248+33A>G (p.=)
c.2221+33A>G (p.=)
c.2083A>G (p.Met695Val)
n.1718A>G
n.2063A>G
n.2654A>G
gnomAD
7g.150950135T>GCA369855917KCNH2c.2398+33A>C (p.=)
c.1411A>C (p.Met471Leu)
c.2431A>C (p.Met811Leu)
c.1378+33A>C (p.=)
c.2098+33A>C (p.=)
c.2248+33A>C (p.=)
c.2221+33A>C (p.=)
c.2083A>C (p.Met695Leu)
n.1718A>C
n.2063A>C
n.2654A>C
7g.150950137dupCA835225029KCNH2c.2398+33dup (p.=)
c.1411dup (p.Met471AsnfsTer?)
c.2431dup (p.Met811AsnfsTer?)
c.1378+33dup (p.=)
c.2098+33dup (p.=)
c.2248+33dup (p.=)
c.2221+33dup (p.=)
c.2083dup (p.Met695AsnfsTer?)
n.1718dup
n.2063dup
n.2654dup
dbSNP
7g.150950136T>ACA369855918KCNH2c.2398+32A>T (p.=)
c.1410A>T (p.Glu470Asp)
c.2430A>T (p.Glu810Asp)
c.1378+32A>T (p.=)
c.2098+32A>T (p.=)
c.2248+32A>T (p.=)
c.2221+32A>T (p.=)
c.2082A>T (p.Glu694Asp)
n.1717A>T
n.2062A>T
n.2653A>T
7g.150950136T>GCA369855919KCNH2c.2398+32A>C (p.=)
c.1410A>C (p.Glu470Asp)
c.2430A>C (p.Glu810Asp)
c.1378+32A>C (p.=)
c.2098+32A>C (p.=)
c.2248+32A>C (p.=)
c.2221+32A>C (p.=)
c.2082A>C (p.Glu694Asp)
n.1717A>C
n.2062A>C
n.2653A>C
7g.150950137T>ACA369855920KCNH2c.2398+31A>T (p.=)
c.1409A>T (p.Glu470Val)
c.2429A>T (p.Glu810Val)
c.1378+31A>T (p.=)
c.2098+31A>T (p.=)
c.2248+31A>T (p.=)
c.2221+31A>T (p.=)
c.2081A>T (p.Glu694Val)
n.1716A>T
n.2061A>T
n.2652A>T
7g.150950137T>CCA369855922KCNH2c.2398+31A>G (p.=)
c.1409A>G (p.Glu470Gly)
c.2429A>G (p.Glu810Gly)
c.1378+31A>G (p.=)
c.2098+31A>G (p.=)
c.2248+31A>G (p.=)
c.2221+31A>G (p.=)
c.2081A>G (p.Glu694Gly)
n.1716A>G
n.2061A>G
n.2652A>G
7g.150950137T>GCA369855921KCNH2c.2398+31A>C (p.=)
c.1409A>C (p.Glu470Ala)
c.2429A>C (p.Glu810Ala)
c.1378+31A>C (p.=)
c.2098+31A>C (p.=)
c.2248+31A>C (p.=)
c.2221+31A>C (p.=)
c.2081A>C (p.Glu694Ala)
n.1716A>C
n.2061A>C
n.2652A>C
7g.150950138C>ACA369855923KCNH2c.2398+30G>T (p.=)
c.1408G>T (p.Glu470Ter)
c.2428G>T (p.Glu810Ter)
c.1378+30G>T (p.=)
c.2098+30G>T (p.=)
c.2248+30G>T (p.=)
c.2221+30G>T (p.=)
c.2080G>T (p.Glu694Ter)
n.1715G>T
n.2060G>T
n.2651G>T
7g.150950138C>GCA369855924KCNH2c.2398+30G>C (p.=)
c.1408G>C (p.Glu470Gln)
c.2428G>C (p.Glu810Gln)
c.1378+30G>C (p.=)
c.2098+30G>C (p.=)
c.2248+30G>C (p.=)
c.2221+30G>C (p.=)
c.2080G>C (p.Glu694Gln)
n.1715G>C
n.2060G>C
n.2651G>C
7g.150950138C>TCA369855925KCNH2c.2398+30G>A (p.=)
c.1408G>A (p.Glu470Lys)
c.2428G>A (p.Glu810Lys)
c.1378+30G>A (p.=)
c.2098+30G>A (p.=)
c.2248+30G>A (p.=)
c.2221+30G>A (p.=)
c.2080G>A (p.Glu694Lys)
n.1715G>A
n.2060G>A
n.2651G>A
7g.150950140A>CCA369855926KCNH2c.2398+28T>G (p.=)
c.1406T>G (p.Leu469Arg)
c.2426T>G (p.Leu809Arg)
c.1378+28T>G (p.=)
c.2098+28T>G (p.=)
c.2248+28T>G (p.=)
c.2221+28T>G (p.=)
c.2078T>G (p.Leu693Arg)
n.1713T>G
n.2058T>G
n.2649T>G
7g.150950140A>GCA369855927KCNH2c.2398+28T>C (p.=)
c.1406T>C (p.Leu469Pro)
c.2426T>C (p.Leu809Pro)
c.1378+28T>C (p.=)
c.2098+28T>C (p.=)
c.2248+28T>C (p.=)
c.2221+28T>C (p.=)
c.2078T>C (p.Leu693Pro)
n.1713T>C
n.2058T>C
n.2649T>C
7g.150950140A>TCA369855928KCNH2c.2398+28T>A (p.=)
c.1406T>A (p.Leu469Gln)
c.2426T>A (p.Leu809Gln)
c.1378+28T>A (p.=)
c.2098+28T>A (p.=)
c.2248+28T>A (p.=)
c.2221+28T>A (p.=)
c.2078T>A (p.Leu693Gln)
n.1713T>A
n.2058T>A
n.2649T>A
7g.150950141G>CCA369855929KCNH2c.2398+27C>G (p.=)
c.1405C>G (p.Leu469Val)
c.2425C>G (p.Leu809Val)
c.1378+27C>G (p.=)
c.2098+27C>G (p.=)
c.2248+27C>G (p.=)
c.2221+27C>G (p.=)
c.2077C>G (p.Leu693Val)
n.1712C>G
n.2057C>G
n.2648C>G
7g.150950141G>TCA369855930KCNH2c.2398+27C>A (p.=)
c.1405C>A (p.Leu469Met)
c.2425C>A (p.Leu809Met)
c.1378+27C>A (p.=)
c.2098+27C>A (p.=)
c.2248+27C>A (p.=)
c.2221+27C>A (p.=)
c.2077C>A (p.Leu693Met)
n.1712C>A
n.2057C>A
n.2648C>A
7g.150950142T>ACA1108705587KCNH2c.2398+26A>T (p.=)
c.1404A>T (p.Gly468=)
c.2424A>T (p.Gly808=)
c.1378+26A>T (p.=)
c.2098+26A>T (p.=)
c.2248+26A>T (p.=)
c.2221+26A>T (p.=)
c.2076A>T (p.Gly692=)
n.1711A>T
n.2056A>T
n.2647A>T
7g.150950142T>GCA1108705588KCNH2c.2398+26A>C (p.=)
c.1404A>C (p.Gly468=)
c.2424A>C (p.Gly808=)
c.1378+26A>C (p.=)
c.2098+26A>C (p.=)
c.2248+26A>C (p.=)
c.2221+26A>C (p.=)
c.2076A>C (p.Gly692=)
n.1711A>C
n.2056A>C
n.2647A>C
7g.150950143C>ACA032302KCNH2c.2398+25G>T (p.=)
c.1403G>T (p.Gly468Val)
c.2423G>T (p.Gly808Val)
c.1378+25G>T (p.=)
c.2098+25G>T (p.=)
c.2248+25G>T (p.=)
c.2221+25G>T (p.=)
c.2075G>T (p.Gly692Val)
n.1710G>T
n.2055G>T
n.2646G>T
ClinVar dbSNP ExAC gnomAD COSMIC
7g.150950143C>GCA369855932KCNH2c.2398+25G>C (p.=)
c.1403G>C (p.Gly468Ala)
c.2423G>C (p.Gly808Ala)
c.1378+25G>C (p.=)
c.2098+25G>C (p.=)
c.2248+25G>C (p.=)
c.2221+25G>C (p.=)
c.2075G>C (p.Gly692Ala)
n.1710G>C
n.2055G>C
n.2646G>C

Number of alleles fetched