Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150950116delCA071616KCNH2c.2398+52del (p.=)
c.1430del (p.Arg477LysfsTer6)
c.2450del (p.Arg817LysfsTer6)
c.1378+52del (p.=)
c.2098+52del (p.=)
c.2248+52del (p.=)
c.2221+52del (p.=)
c.2102del (p.Arg701LysfsTer6)
n.1737del
n.2082del
n.2673del
7g.150950116C>ACA071621KCNH2c.2398+52G>T (p.=)
c.1430G>T (p.Arg477Ile)
c.2450G>T (p.Arg817Ile)
c.1378+52G>T (p.=)
c.2098+52G>T (p.=)
c.2248+52G>T (p.=)
c.2221+52G>T (p.=)
c.2102G>T (p.Arg701Ile)
n.1737G>T
n.2082G>T
n.2673G>T
7g.150950116C>GCA369855877KCNH2c.2398+52G>C (p.=)
c.1430G>C (p.Arg477Thr)
c.2450G>C (p.Arg817Thr)
c.1378+52G>C (p.=)
c.2098+52G>C (p.=)
c.2248+52G>C (p.=)
c.2221+52G>C (p.=)
c.2102G>C (p.Arg701Thr)
n.1737G>C
n.2082G>C
n.2673G>C
7g.150950116C>TCA369855876KCNH2c.2398+52G>A (p.=)
c.1430G>A (p.Arg477Lys)
c.2450G>A (p.Arg817Lys)
c.1378+52G>A (p.=)
c.2098+52G>A (p.=)
c.2248+52G>A (p.=)
c.2221+52G>A (p.=)
c.2102G>A (p.Arg701Lys)
n.1737G>A
n.2082G>A
n.2673G>A
7g.150950117T>ACA369855878KCNH2c.2398+51A>T (p.=)
c.1429A>T (p.Arg477Ter)
c.2449A>T (p.Arg817Ter)
c.1378+51A>T (p.=)
c.2098+51A>T (p.=)
c.2248+51A>T (p.=)
c.2221+51A>T (p.=)
c.2101A>T (p.Arg701Ter)
n.1736A>T
n.2081A>T
n.2672A>T
7g.150950117T>CCA369855879KCNH2c.2398+51A>G (p.=)
c.1429A>G (p.Arg477Gly)
c.2449A>G (p.Arg817Gly)
c.1378+51A>G (p.=)
c.2098+51A>G (p.=)
c.2248+51A>G (p.=)
c.2221+51A>G (p.=)
c.2101A>G (p.Arg701Gly)
n.1736A>G
n.2081A>G
n.2672A>G
7g.150950119G>ACA369855880KCNH2c.2398+49C>T (p.=)
c.1427C>T (p.Ser476Leu)
c.2447C>T (p.Ser816Leu)
c.1378+49C>T (p.=)
c.2098+49C>T (p.=)
c.2248+49C>T (p.=)
c.2221+49C>T (p.=)
c.2099C>T (p.Ser700Leu)
n.1734C>T
n.2079C>T
n.2670C>T
7g.150950119G>CCA369855881KCNH2c.2398+49C>G (p.=)
c.1427C>G (p.Ser476Ter)
c.2447C>G (p.Ser816Ter)
c.1378+49C>G (p.=)
c.2098+49C>G (p.=)
c.2248+49C>G (p.=)
c.2221+49C>G (p.=)
c.2099C>G (p.Ser700Ter)
n.1734C>G
n.2079C>G
n.2670C>G
7g.150950119G>TCA369855882KCNH2c.2398+49C>A (p.=)
c.1427C>A (p.Ser476Ter)
c.2447C>A (p.Ser816Ter)
c.1378+49C>A (p.=)
c.2098+49C>A (p.=)
c.2248+49C>A (p.=)
c.2221+49C>A (p.=)
c.2099C>A (p.Ser700Ter)
n.1734C>A
n.2079C>A
n.2670C>A
7g.150950120A>CCA369855883KCNH2c.2398+48T>G (p.=)
c.1426T>G (p.Ser476Ala)
c.2446T>G (p.Ser816Ala)
c.1378+48T>G (p.=)
c.2098+48T>G (p.=)
c.2248+48T>G (p.=)
c.2221+48T>G (p.=)
c.2098T>G (p.Ser700Ala)
n.1733T>G
n.2078T>G
n.2669T>G
7g.150950120A>GCA369855884KCNH2c.2398+48T>C (p.=)
c.1426T>C (p.Ser476Pro)
c.2446T>C (p.Ser816Pro)
c.1378+48T>C (p.=)
c.2098+48T>C (p.=)
c.2248+48T>C (p.=)
c.2221+48T>C (p.=)
c.2098T>C (p.Ser700Pro)
n.1733T>C
n.2078T>C
n.2669T>C
7g.150950120A>TCA369855885KCNH2c.2398+48T>A (p.=)
c.1426T>A (p.Ser476Thr)
c.2446T>A (p.Ser816Thr)
c.1378+48T>A (p.=)
c.2098+48T>A (p.=)
c.2248+48T>A (p.=)
c.2221+48T>A (p.=)
c.2098T>A (p.Ser700Thr)
n.1733T>A
n.2078T>A
n.2669T>A
7g.150950122G>ACA369855886KCNH2c.2398+46C>T (p.=)
c.1424C>T (p.Ala475Val)
c.2444C>T (p.Ala815Val)
c.1378+46C>T (p.=)
c.2098+46C>T (p.=)
c.2248+46C>T (p.=)
c.2221+46C>T (p.=)
c.2096C>T (p.Ala699Val)
n.1731C>T
n.2076C>T
n.2667C>T
7g.150950122G>CCA369855887KCNH2c.2398+46C>G (p.=)
c.1424C>G (p.Ala475Gly)
c.2444C>G (p.Ala815Gly)
c.1378+46C>G (p.=)
c.2098+46C>G (p.=)
c.2248+46C>G (p.=)
c.2221+46C>G (p.=)
c.2096C>G (p.Ala699Gly)
n.1731C>G
n.2076C>G
n.2667C>G
7g.150950122G>TCA369855888KCNH2c.2398+46C>A (p.=)
c.1424C>A (p.Ala475Asp)
c.2444C>A (p.Ala815Asp)
c.1378+46C>A (p.=)
c.2098+46C>A (p.=)
c.2248+46C>A (p.=)
c.2221+46C>A (p.=)
c.2096C>A (p.Ala699Asp)
n.1731C>A
n.2076C>A
n.2667C>A
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

Number of alleles fetched