Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150946748_150946906delCA2685600359KCNH2n.4141_4163+136del
c.3308_3330+136del
c.2288_2310+136del
c.3008_3030+136del
c.3158_3180+136del
c.3131_3153+136del
gnomAD v4
7g.150946814_150947018delCA2697557661KCNH2n.4027_4163+68del
c.3194_3330+68del
c.2174_2310+68del
c.2894_3030+68del
c.3044_3180+68del
c.3017_3153+68del
ClinVar
7g.150946825A>GCA2685600472KCNH2n.4163+52T>C
c.3330+52T>C (n.3330+52T>C)
c.2310+52T>C (n.2310+52T>C)
c.3030+52T>C (n.3030+52T>C)
c.3180+52T>C (n.3180+52T>C)
c.3153+52T>C (n.3153+52T>C)
gnomAD v4
7g.150946825A>TCA2840140921KCNH2n.4163+52T>A
c.3330+52T>A (n.3330+52T>A)
c.2310+52T>A (n.2310+52T>A)
c.3030+52T>A (n.3030+52T>A)
c.3180+52T>A (n.3180+52T>A)
c.3153+52T>A (n.3153+52T>A)
7g.150946827C>ACA2685600473KCNH2n.4163+50G>T
c.3330+50G>T (n.3330+50G>T)
c.2310+50G>T (n.2310+50G>T)
c.3030+50G>T (n.3030+50G>T)
c.3180+50G>T (n.3180+50G>T)
c.3153+50G>T (n.3153+50G>T)
gnomAD v4
7g.150946827C=CA1752427212KCNH2n.4163+50G=
c.3330+50G= (n.3330+50G=)
c.2310+50G= (n.2310+50G=)
c.3030+50G= (n.3030+50G=)
c.3180+50G= (n.3180+50G=)
c.3153+50G= (n.3153+50G=)
7g.150946827C>TCA4566413KCNH2n.4163+50G>A
c.3330+50G>A (n.3330+50G>A)
c.2310+50G>A (n.2310+50G>A)
c.3030+50G>A (n.3030+50G>A)
c.3180+50G>A (n.3180+50G>A)
c.3153+50G>A (n.3153+50G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946827_150946828delinsCGCA1752427211KCNH2n.4163+49_4163+50delinsCG
c.3330+49_3330+50delinsCG (n.3330+49_3330+50delinsCG)
c.2310+49_2310+50delinsCG (n.2310+49_2310+50delinsCG)
c.3030+49_3030+50delinsCG (n.3030+49_3030+50delinsCG)
c.3180+49_3180+50delinsCG (n.3180+49_3180+50delinsCG)
c.3153+49_3153+50delinsCG (n.3153+49_3153+50delinsCG)
7g.150946828G>ACA038627KCNH2n.4163+49C>T
c.3330+49C>T (n.3330+49C>T)
c.2310+49C>T (n.2310+49C>T)
c.3030+49C>T (n.3030+49C>T)
c.3180+49C>T (n.3180+49C>T)
c.3153+49C>T (n.3153+49C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946828G>CCA2685600474KCNH2n.4163+49C>G
c.3330+49C>G (n.3330+49C>G)
c.2310+49C>G (n.2310+49C>G)
c.3030+49C>G (n.3030+49C>G)
c.3180+49C>G (n.3180+49C>G)
c.3153+49C>G (n.3153+49C>G)
gnomAD v4
7g.150946828G=CA1752427216KCNH2n.4163+49C=
c.3330+49C= (n.3330+49C=)
c.2310+49C= (n.2310+49C=)
c.3030+49C= (n.3030+49C=)
c.3180+49C= (n.3180+49C=)
c.3153+49C= (n.3153+49C=)
7g.150946828G>TCA2579062497KCNH2n.4163+49C>A
c.3330+49C>A (n.3330+49C>A)
c.2310+49C>A (n.2310+49C>A)
c.3030+49C>A (n.3030+49C>A)
c.3180+49C>A (n.3180+49C>A)
c.3153+49C>A (n.3153+49C>A)
gnomAD v4
7g.150946831delCA4566414KCNH2n.4163+49del
c.3330+49del (n.3330+49del)
c.2310+49del (n.2310+49del)
c.3030+49del (n.3030+49del)
c.3180+49del (n.3180+49del)
c.3153+49del (n.3153+49del)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946829G>TCA2579062499KCNH2n.4163+48C>A
c.3330+48C>A (n.3330+48C>A)
c.2310+48C>A (n.2310+48C>A)
c.3030+48C>A (n.3030+48C>A)
c.3180+48C>A (n.3180+48C>A)
c.3153+48C>A (n.3153+48C>A)
gnomAD v4
7g.150946830G>ACA2685600475KCNH2n.4163+47C>T
c.3330+47C>T (n.3330+47C>T)
c.2310+47C>T (n.2310+47C>T)
c.3030+47C>T (n.3030+47C>T)
c.3180+47C>T (n.3180+47C>T)
c.3153+47C>T (n.3153+47C>T)
gnomAD v4
7g.150946830G>TCA2685600476KCNH2n.4163+47C>A
c.3330+47C>A (n.3330+47C>A)
c.2310+47C>A (n.2310+47C>A)
c.3030+47C>A (n.3030+47C>A)
c.3180+47C>A (n.3180+47C>A)
c.3153+47C>A (n.3153+47C>A)
gnomAD v4
7g.150946831G>ACA038592KCNH2n.4163+46C>T
c.3330+46C>T (n.3330+46C>T)
c.2310+46C>T (n.2310+46C>T)
c.3030+46C>T (n.3030+46C>T)
c.3180+46C>T (n.3180+46C>T)
c.3153+46C>T (n.3153+46C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946831G>CCA2685600477KCNH2n.4163+46C>G
c.3330+46C>G (n.3330+46C>G)
c.2310+46C>G (n.2310+46C>G)
c.3030+46C>G (n.3030+46C>G)
c.3180+46C>G (n.3180+46C>G)
c.3153+46C>G (n.3153+46C>G)
gnomAD v4
7g.150946831G=CA1752427218KCNH2n.4163+46C=
c.3330+46C= (n.3330+46C=)
c.2310+46C= (n.2310+46C=)
c.3030+46C= (n.3030+46C=)
c.3180+46C= (n.3180+46C=)
c.3153+46C= (n.3153+46C=)
7g.150946831G>TCA038585KCNH2n.4163+46C>A
c.3330+46C>A (n.3330+46C>A)
c.2310+46C>A (n.2310+46C>A)
c.3030+46C>A (n.3030+46C>A)
c.3180+46C>A (n.3180+46C>A)
c.3153+46C>A (n.3153+46C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946832A=CA1752427220KCNH2n.4163+45T=
c.3330+45T= (n.3330+45T=)
c.2310+45T= (n.2310+45T=)
c.3030+45T= (n.3030+45T=)
c.3180+45T= (n.3180+45T=)
c.3153+45T= (n.3153+45T=)
7g.150946832A>GCA1752427221KCNH2n.4163+45T>C
c.3330+45T>C (n.3330+45T>C)
c.2310+45T>C (n.2310+45T>C)
c.3030+45T>C (n.3030+45T>C)
c.3180+45T>C (n.3180+45T>C)
c.3153+45T>C (n.3153+45T>C)
dbSNP gnomAD v4
7g.150946834C>ACA2685600478KCNH2n.4163+43G>T
c.3330+43G>T (n.3330+43G>T)
c.2310+43G>T (n.2310+43G>T)
c.3030+43G>T (n.3030+43G>T)
c.3180+43G>T (n.3180+43G>T)
c.3153+43G>T (n.3153+43G>T)
gnomAD v4
7g.150946834C>TCA2838273371KCNH2n.4163+43G>A
c.3330+43G>A (n.3330+43G>A)
c.2310+43G>A (n.2310+43G>A)
c.3030+43G>A (n.3030+43G>A)
c.3180+43G>A (n.3180+43G>A)
c.3153+43G>A (n.3153+43G>A)
7g.150946836A=CA1752427223KCNH2n.4163+41T=
c.3330+41T= (n.3330+41T=)
c.2310+41T= (n.2310+41T=)
c.3030+41T= (n.3030+41T=)
c.3180+41T= (n.3180+41T=)
c.3153+41T= (n.3153+41T=)
7g.150946836A>GCA169071099KCNH2n.4163+41T>C
c.3330+41T>C (n.3330+41T>C)
c.2310+41T>C (n.2310+41T>C)
c.3030+41T>C (n.3030+41T>C)
c.3180+41T>C (n.3180+41T>C)
c.3153+41T>C (n.3153+41T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946837G>ACA458644616KCNH2n.4163+40C>T
c.3330+40C>T (n.3330+40C>T)
c.2310+40C>T (n.2310+40C>T)
c.3030+40C>T (n.3030+40C>T)
c.3180+40C>T (n.3180+40C>T)
c.3153+40C>T (n.3153+40C>T)
gnomAD v4
7g.150946837G=CA1752427226KCNH2n.4163+40C=
c.3330+40C= (n.3330+40C=)
c.2310+40C= (n.2310+40C=)
c.3030+40C= (n.3030+40C=)
c.3180+40C= (n.3180+40C=)
c.3153+40C= (n.3153+40C=)
7g.150946837G>TCA2685600479KCNH2n.4163+40C>A
c.3330+40C>A (n.3330+40C>A)
c.2310+40C>A (n.2310+40C>A)
c.3030+40C>A (n.3030+40C>A)
c.3180+40C>A (n.3180+40C>A)
c.3153+40C>A (n.3153+40C>A)
gnomAD v4
7g.150946838C>ACA2685600480KCNH2n.4163+39G>T
c.3330+39G>T (n.3330+39G>T)
c.2310+39G>T (n.2310+39G>T)
c.3030+39G>T (n.3030+39G>T)
c.3180+39G>T (n.3180+39G>T)
c.3153+39G>T (n.3153+39G>T)
gnomAD v4
7g.150946838C=CA1752427233KCNH2n.4163+39G=
c.3330+39G= (n.3330+39G=)
c.2310+39G= (n.2310+39G=)
c.3030+39G= (n.3030+39G=)
c.3180+39G= (n.3180+39G=)
c.3153+39G= (n.3153+39G=)
7g.150946838C>GCA1752427230KCNH2n.4163+39G>C
c.3330+39G>C (n.3330+39G>C)
c.2310+39G>C (n.2310+39G>C)
c.3030+39G>C (n.3030+39G>C)
c.3180+39G>C (n.3180+39G>C)
c.3153+39G>C (n.3153+39G>C)
dbSNP gnomAD v4
7g.150946838C>TCA038573KCNH2n.4163+39G>A
c.3330+39G>A (n.3330+39G>A)
c.2310+39G>A (n.2310+39G>A)
c.3030+39G>A (n.3030+39G>A)
c.3180+39G>A (n.3180+39G>A)
c.3153+39G>A (n.3153+39G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946838_150946839delinsCGCA1752427231KCNH2n.4163+38_4163+39delinsCG
c.3330+38_3330+39delinsCG (n.3330+38_3330+39delinsCG)
c.2310+38_2310+39delinsCG (n.2310+38_2310+39delinsCG)
c.3030+38_3030+39delinsCG (n.3030+38_3030+39delinsCG)
c.3180+38_3180+39delinsCG (n.3180+38_3180+39delinsCG)
c.3153+38_3153+39delinsCG (n.3153+38_3153+39delinsCG)
7g.150946841_150946847dupCA835220338KCNH2n.4163+33_4163+39dup
c.3330+33_3330+39dup (n.3330+33_3330+39dup)
c.2310+33_2310+39dup (n.2310+33_2310+39dup)
c.3030+33_3030+39dup (n.3030+33_3030+39dup)
c.3180+33_3180+39dup (n.3180+33_3180+39dup)
c.3153+33_3153+39dup (n.3153+33_3153+39dup)
dbSNP gnomAD v3 gnomAD v4
7g.150946839G>ACA169071116KCNH2n.4163+38C>T
c.3330+38C>T (n.3330+38C>T)
c.2310+38C>T (n.2310+38C>T)
c.3030+38C>T (n.3030+38C>T)
c.3180+38C>T (n.3180+38C>T)
c.3153+38C>T (n.3153+38C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946839G>CCA2685600482KCNH2n.4163+38C>G
c.3330+38C>G (n.3330+38C>G)
c.2310+38C>G (n.2310+38C>G)
c.3030+38C>G (n.3030+38C>G)
c.3180+38C>G (n.3180+38C>G)
c.3153+38C>G (n.3153+38C>G)
gnomAD v4
7g.150946839G=CA1752427238KCNH2n.4163+38C=
c.3330+38C= (n.3330+38C=)
c.2310+38C= (n.2310+38C=)
c.3030+38C= (n.3030+38C=)
c.3180+38C= (n.3180+38C=)
c.3153+38C= (n.3153+38C=)
7g.150946839G>TCA2530333252KCNH2n.4163+38C>A
c.3330+38C>A (n.3330+38C>A)
c.2310+38C>A (n.2310+38C>A)
c.3030+38C>A (n.3030+38C>A)
c.3180+38C>A (n.3180+38C>A)
c.3153+38C>A (n.3153+38C>A)
gnomAD v4
7g.150946841delCA579075281KCNH2n.4163+38del
c.3330+38del (n.3330+38del)
c.2310+38del (n.2310+38del)
c.3030+38del (n.3030+38del)
c.3180+38del (n.3180+38del)
c.3153+38del (n.3153+38del)
dbSNP gnomAD v2 gnomAD v4
7g.150946840G>ACA2685600484KCNH2n.4163+37C>T
c.3330+37C>T (n.3330+37C>T)
c.2310+37C>T (n.2310+37C>T)
c.3030+37C>T (n.3030+37C>T)
c.3180+37C>T (n.3180+37C>T)
c.3153+37C>T (n.3153+37C>T)
gnomAD v4
7g.150946840G>TCA2685600483KCNH2n.4163+37C>A
c.3330+37C>A (n.3330+37C>A)
c.2310+37C>A (n.2310+37C>A)
c.3030+37C>A (n.3030+37C>A)
c.3180+37C>A (n.3180+37C>A)
c.3153+37C>A (n.3153+37C>A)
gnomAD v4
7g.150946840_150946841insAACA2685600485KCNH2n.4163+36_4163+37insTT
c.3330+36_3330+37insTT (n.3330+36_3330+37insTT)
c.2310+36_2310+37insTT (n.2310+36_2310+37insTT)
c.3030+36_3030+37insTT (n.3030+36_3030+37insTT)
c.3180+36_3180+37insTT (n.3180+36_3180+37insTT)
c.3153+36_3153+37insTT (n.3153+36_3153+37insTT)
gnomAD v4
7g.150946841G>ACA2685600486KCNH2n.4163+36C>T
c.3330+36C>T (n.3330+36C>T)
c.2310+36C>T (n.2310+36C>T)
c.3030+36C>T (n.3030+36C>T)
c.3180+36C>T (n.3180+36C>T)
c.3153+36C>T (n.3153+36C>T)
gnomAD v4
7g.150946841G>TCA2685600487KCNH2n.4163+36C>A
c.3330+36C>A (n.3330+36C>A)
c.2310+36C>A (n.2310+36C>A)
c.3030+36C>A (n.3030+36C>A)
c.3180+36C>A (n.3180+36C>A)
c.3153+36C>A (n.3153+36C>A)
gnomAD v4
7g.150946842T>ACA2685600489KCNH2n.4163+35A>T
c.3330+35A>T (n.3330+35A>T)
c.2310+35A>T (n.2310+35A>T)
c.3030+35A>T (n.3030+35A>T)
c.3180+35A>T (n.3180+35A>T)
c.3153+35A>T (n.3153+35A>T)
gnomAD v4
7g.150946842_150946843delCA2685600488KCNH2n.4163+34_4163+35del
c.3330+34_3330+35del (n.3330+34_3330+35del)
c.2310+34_2310+35del (n.2310+34_2310+35del)
c.3030+34_3030+35del (n.3030+34_3030+35del)
c.3180+34_3180+35del (n.3180+34_3180+35del)
c.3153+34_3153+35del (n.3153+34_3153+35del)
gnomAD v4
7g.150946843C>ACA2685600491KCNH2n.4163+34G>T
c.3330+34G>T (n.3330+34G>T)
c.2310+34G>T (n.2310+34G>T)
c.3030+34G>T (n.3030+34G>T)
c.3180+34G>T (n.3180+34G>T)
c.3153+34G>T (n.3153+34G>T)
dbSNP gnomAD v4
7g.150946843dupCA2685600490KCNH2n.4163+34dup
c.3330+34dup (n.3330+34dup)
c.2310+34dup (n.2310+34dup)
c.3030+34dup (n.3030+34dup)
c.3180+34dup (n.3180+34dup)
c.3153+34dup (n.3153+34dup)
gnomAD v4
7g.150946844A=CA1752427240KCNH2n.4163+33T=
c.3330+33T= (n.3330+33T=)
c.2310+33T= (n.2310+33T=)
c.3030+33T= (n.3030+33T=)
c.3180+33T= (n.3180+33T=)
c.3153+33T= (n.3153+33T=)
7g.150946844A>GCA038558KCNH2n.4163+33T>C
c.3330+33T>C (n.3330+33T>C)
c.2310+33T>C (n.2310+33T>C)
c.3030+33T>C (n.3030+33T>C)
c.3180+33T>C (n.3180+33T>C)
c.3153+33T>C (n.3153+33T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946845delCA2579062502KCNH2n.4163+32del
c.3330+32del (n.3330+32del)
c.2310+32del (n.2310+32del)
c.3030+32del (n.3030+32del)
c.3180+32del (n.3180+32del)
c.3153+32del (n.3153+32del)
7g.150946845C>ACA2685600493KCNH2n.4163+32G>T
c.3330+32G>T (n.3330+32G>T)
c.2310+32G>T (n.2310+32G>T)
c.3030+32G>T (n.3030+32G>T)
c.3180+32G>T (n.3180+32G>T)
c.3153+32G>T (n.3153+32G>T)
gnomAD v4
7g.150946845C=CA1752427243KCNH2n.4163+32G=
c.3330+32G= (n.3330+32G=)
c.2310+32G= (n.2310+32G=)
c.3030+32G= (n.3030+32G=)
c.3180+32G= (n.3180+32G=)
c.3153+32G= (n.3153+32G=)
7g.150946845C>GCA2716052610KCNH2n.4163+32G>C
c.3330+32G>C (n.3330+32G>C)
c.2310+32G>C (n.2310+32G>C)
c.3030+32G>C (n.3030+32G>C)
c.3180+32G>C (n.3180+32G>C)
c.3153+32G>C (n.3153+32G>C)
dbSNP
7g.150946845C>TCA579075282KCNH2n.4163+32G>A
c.3330+32G>A (n.3330+32G>A)
c.2310+32G>A (n.2310+32G>A)
c.3030+32G>A (n.3030+32G>A)
c.3180+32G>A (n.3180+32G>A)
c.3153+32G>A (n.3153+32G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946847_150946854dupCA4566415KCNH2n.4163+25_4163+32dup
c.3330+25_3330+32dup (n.3330+25_3330+32dup)
c.2310+25_2310+32dup (n.2310+25_2310+32dup)
c.3030+25_3030+32dup (n.3030+25_3030+32dup)
c.3180+25_3180+32dup (n.3180+25_3180+32dup)
c.3153+25_3153+32dup (n.3153+25_3153+32dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946846G>ACA169071121KCNH2n.4163+31C>T
c.3330+31C>T (n.3330+31C>T)
c.2310+31C>T (n.2310+31C>T)
c.3030+31C>T (n.3030+31C>T)
c.3180+31C>T (n.3180+31C>T)
c.3153+31C>T (n.3153+31C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946846G>CCA038527KCNH2n.4163+31C>G
c.3330+31C>G (n.3330+31C>G)
c.2310+31C>G (n.2310+31C>G)
c.3030+31C>G (n.3030+31C>G)
c.3180+31C>G (n.3180+31C>G)
c.3153+31C>G (n.3153+31C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946846G=CA1752427248KCNH2n.4163+31C=
c.3330+31C= (n.3330+31C=)
c.2310+31C= (n.2310+31C=)
c.3030+31C= (n.3030+31C=)
c.3180+31C= (n.3180+31C=)
c.3153+31C= (n.3153+31C=)
7g.150946846G>TCA2579062504KCNH2n.4163+31C>A
c.3330+31C>A (n.3330+31C>A)
c.2310+31C>A (n.2310+31C>A)
c.3030+31C>A (n.3030+31C>A)
c.3180+31C>A (n.3180+31C>A)
c.3153+31C>A (n.3153+31C>A)
gnomAD v4
7g.150946847G>ACA579075283KCNH2n.4163+30C>T
c.3330+30C>T (n.3330+30C>T)
c.2310+30C>T (n.2310+30C>T)
c.3030+30C>T (n.3030+30C>T)
c.3180+30C>T (n.3180+30C>T)
c.3153+30C>T (n.3153+30C>T)
dbSNP gnomAD v2 gnomAD v4
7g.150946847G=CA1752427251KCNH2n.4163+30C=
c.3330+30C= (n.3330+30C=)
c.2310+30C= (n.2310+30C=)
c.3030+30C= (n.3030+30C=)
c.3180+30C= (n.3180+30C=)
c.3153+30C= (n.3153+30C=)
7g.150946847G>TCA579075284KCNH2n.4163+30C>A
c.3330+30C>A (n.3330+30C>A)
c.2310+30C>A (n.2310+30C>A)
c.3030+30C>A (n.3030+30C>A)
c.3180+30C>A (n.3180+30C>A)
c.3153+30C>A (n.3153+30C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946848T>CCA2685600495KCNH2n.4163+29A>G
c.3330+29A>G (n.3330+29A>G)
c.2310+29A>G (n.2310+29A>G)
c.3030+29A>G (n.3030+29A>G)
c.3180+29A>G (n.3180+29A>G)
c.3153+29A>G (n.3153+29A>G)
gnomAD v4
7g.150946848_150946850dupCA169071123KCNH2n.4163+27_4163+29dup
c.3330+27_3330+29dup (n.3330+27_3330+29dup)
c.2310+27_2310+29dup (n.2310+27_2310+29dup)
c.3030+27_3030+29dup (n.3030+27_3030+29dup)
c.3180+27_3180+29dup (n.3180+27_3180+29dup)
c.3153+27_3153+29dup (n.3153+27_3153+29dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946849A>GCA2685600496KCNH2n.4163+28T>C
c.3330+28T>C (n.3330+28T>C)
c.2310+28T>C (n.2310+28T>C)
c.3030+28T>C (n.3030+28T>C)
c.3180+28T>C (n.3180+28T>C)
c.3153+28T>C (n.3153+28T>C)
gnomAD v4
7g.150946850_150946855dupCA2579062505KCNH2n.4163+23_4163+28dup
c.3330+23_3330+28dup (n.3330+23_3330+28dup)
c.2310+23_2310+28dup (n.2310+23_2310+28dup)
c.3030+23_3030+28dup (n.3030+23_3030+28dup)
c.3180+23_3180+28dup (n.3180+23_3180+28dup)
c.3153+23_3153+28dup (n.3153+23_3153+28dup)
gnomAD v4
7g.150946850C>ACA1752427254KCNH2n.4163+27G>T
c.3330+27G>T (n.3330+27G>T)
c.2310+27G>T (n.2310+27G>T)
c.3030+27G>T (n.3030+27G>T)
c.3180+27G>T (n.3180+27G>T)
c.3153+27G>T (n.3153+27G>T)
dbSNP gnomAD v4
7g.150946850C=CA1752427256KCNH2n.4163+27G=
c.3330+27G= (n.3330+27G=)
c.2310+27G= (n.2310+27G=)
c.3030+27G= (n.3030+27G=)
c.3180+27G= (n.3180+27G=)
c.3153+27G= (n.3153+27G=)
7g.150946850C>TCA579075285KCNH2n.4163+27G>A
c.3330+27G>A (n.3330+27G>A)
c.2310+27G>A (n.2310+27G>A)
c.3030+27G>A (n.3030+27G>A)
c.3180+27G>A (n.3180+27G>A)
c.3153+27G>A (n.3153+27G>A)
dbSNP gnomAD v2 gnomAD v4
7g.150946851_150946852insGGGCTGGAGCTTACCCA2685600498KCNH2n.4163+25_4163+26insGGTAAGCTCCAGCCC
c.3330+25_3330+26insGGTAAGCTCCAGCCC (n.3330+25_3330+26insGGTAAGCTCCAGCCC)
c.2310+25_2310+26insGGTAAGCTCCAGCCC (n.2310+25_2310+26insGGTAAGCTCCAGCCC)
c.3030+25_3030+26insGGTAAGCTCCAGCCC (n.3030+25_3030+26insGGTAAGCTCCAGCCC)
c.3180+25_3180+26insGGTAAGCTCCAGCCC (n.3180+25_3180+26insGGTAAGCTCCAGCCC)
c.3153+25_3153+26insGGTAAGCTCCAGCCC (n.3153+25_3153+26insGGTAAGCTCCAGCCC)
gnomAD v4
7g.150946852T>GCA2579062506KCNH2n.4163+25A>C
c.3330+25A>C (n.3330+25A>C)
c.2310+25A>C (n.2310+25A>C)
c.3030+25A>C (n.3030+25A>C)
c.3180+25A>C (n.3180+25A>C)
c.3153+25A>C (n.3153+25A>C)
gnomAD v4
7g.150946853delCA2685600499KCNH2n.4163+24del
c.3330+24del (n.3330+24del)
c.2310+24del (n.2310+24del)
c.3030+24del (n.3030+24del)
c.3180+24del (n.3180+24del)
c.3153+24del (n.3153+24del)
gnomAD v4
7g.150946853C>ACA038518KCNH2n.4163+24G>T
c.3330+24G>T (n.3330+24G>T)
c.2310+24G>T (n.2310+24G>T)
c.3030+24G>T (n.3030+24G>T)
c.3180+24G>T (n.3180+24G>T)
c.3153+24G>T (n.3153+24G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946853C=CA1752427258KCNH2n.4163+24G=
c.3330+24G= (n.3330+24G=)
c.2310+24G= (n.2310+24G=)
c.3030+24G= (n.3030+24G=)
c.3180+24G= (n.3180+24G=)
c.3153+24G= (n.3153+24G=)
7g.150946853C>GCA038505KCNH2n.4163+24G>C
c.3330+24G>C (n.3330+24G>C)
c.2310+24G>C (n.2310+24G>C)
c.3030+24G>C (n.3030+24G>C)
c.3180+24G>C (n.3180+24G>C)
c.3153+24G>C (n.3153+24G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946853C>TCA038486KCNH2n.4163+24G>A
c.3330+24G>A (n.3330+24G>A)
c.2310+24G>A (n.2310+24G>A)
c.3030+24G>A (n.3030+24G>A)
c.3180+24G>A (n.3180+24G>A)
c.3153+24G>A (n.3153+24G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946854delCA2685600502KCNH2n.4163+23del
c.3330+23del (n.3330+23del)
c.2310+23del (n.2310+23del)
c.3030+23del (n.3030+23del)
c.3180+23del (n.3180+23del)
c.3153+23del (n.3153+23del)
gnomAD v4
7g.150946854G>ACA038471KCNH2n.4163+23C>T
c.3330+23C>T (n.3330+23C>T)
c.2310+23C>T (n.2310+23C>T)
c.3030+23C>T (n.3030+23C>T)
c.3180+23C>T (n.3180+23C>T)
c.3153+23C>T (n.3153+23C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946854G=CA1752427262KCNH2n.4163+23C=
c.3330+23C= (n.3330+23C=)
c.2310+23C= (n.2310+23C=)
c.3030+23C= (n.3030+23C=)
c.3180+23C= (n.3180+23C=)
c.3153+23C= (n.3153+23C=)
7g.150946854G>TCA2685600501KCNH2n.4163+23C>A
c.3330+23C>A (n.3330+23C>A)
c.2310+23C>A (n.2310+23C>A)
c.3030+23C>A (n.3030+23C>A)
c.3180+23C>A (n.3180+23C>A)
c.3153+23C>A (n.3153+23C>A)
gnomAD v4
7g.150946855A>GCA2499218779KCNH2n.4163+22T>C
c.3330+22T>C (n.3330+22T>C)
c.2310+22T>C (n.2310+22T>C)
c.3030+22T>C (n.3030+22T>C)
c.3180+22T>C (n.3180+22T>C)
c.3153+22T>C (n.3153+22T>C)
ClinVar dbSNP gnomAD v4
7g.150946855A>TCA2685600503KCNH2n.4163+22T>A
c.3330+22T>A (n.3330+22T>A)
c.2310+22T>A (n.2310+22T>A)
c.3030+22T>A (n.3030+22T>A)
c.3180+22T>A (n.3180+22T>A)
c.3153+22T>A (n.3153+22T>A)
gnomAD v4
7g.150946856G>ACA169071138KCNH2n.4163+21C>T
c.3330+21C>T (n.3330+21C>T)
c.2310+21C>T (n.2310+21C>T)
c.3030+21C>T (n.3030+21C>T)
c.3180+21C>T (n.3180+21C>T)
c.3153+21C>T (n.3153+21C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946856G=CA1752427264KCNH2n.4163+21C=
c.3330+21C= (n.3330+21C=)
c.2310+21C= (n.2310+21C=)
c.3030+21C= (n.3030+21C=)
c.3180+21C= (n.3180+21C=)
c.3153+21C= (n.3153+21C=)
7g.150946857G>ACA2579062508KCNH2n.4163+20C>T
c.3330+20C>T (n.3330+20C>T)
c.2310+20C>T (n.2310+20C>T)
c.3030+20C>T (n.3030+20C>T)
c.3180+20C>T (n.3180+20C>T)
c.3153+20C>T (n.3153+20C>T)
gnomAD v4
7g.150946857G=CA1752427267KCNH2n.4163+20C=
c.3330+20C= (n.3330+20C=)
c.2310+20C= (n.2310+20C=)
c.3030+20C= (n.3030+20C=)
c.3180+20C= (n.3180+20C=)
c.3153+20C= (n.3153+20C=)
7g.150946859dupCA1108704487KCNH2n.4163+19dup
c.3330+19dup (n.3330+19dup)
c.2310+19dup (n.2310+19dup)
c.3030+19dup (n.3030+19dup)
c.3180+19dup (n.3180+19dup)
c.3153+19dup (n.3153+19dup)
dbSNP gnomAD v3 gnomAD v4
7g.150946860G>ACA169071143KCNH2n.4163+17C>T
c.3330+17C>T (n.3330+17C>T)
c.2310+17C>T (n.2310+17C>T)
c.3030+17C>T (n.3030+17C>T)
c.3180+17C>T (n.3180+17C>T)
c.3153+17C>T (n.3153+17C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150946860G=CA1752427269KCNH2n.4163+17C=
c.3330+17C= (n.3330+17C=)
c.2310+17C= (n.2310+17C=)
c.3030+17C= (n.3030+17C=)
c.3180+17C= (n.3180+17C=)
c.3153+17C= (n.3153+17C=)
7g.150946860G>TCA2685600504KCNH2n.4163+17C>A
c.3330+17C>A (n.3330+17C>A)
c.2310+17C>A (n.2310+17C>A)
c.3030+17C>A (n.3030+17C>A)
c.3180+17C>A (n.3180+17C>A)
c.3153+17C>A (n.3153+17C>A)
gnomAD v4
7g.150946861C>ACA2685600505KCNH2n.4163+16G>T
c.3330+16G>T (n.3330+16G>T)
c.2310+16G>T (n.2310+16G>T)
c.3030+16G>T (n.3030+16G>T)
c.3180+16G>T (n.3180+16G>T)
c.3153+16G>T (n.3153+16G>T)
gnomAD v4
7g.150946861C=CA1752427271KCNH2n.4163+16G=
c.3330+16G= (n.3330+16G=)
c.2310+16G= (n.2310+16G=)
c.3030+16G= (n.3030+16G=)
c.3180+16G= (n.3180+16G=)
c.3153+16G= (n.3153+16G=)
7g.150946861C>GCA038458KCNH2n.4163+16G>C
c.3330+16G>C (n.3330+16G>C)
c.2310+16G>C (n.2310+16G>C)
c.3030+16G>C (n.3030+16G>C)
c.3180+16G>C (n.3180+16G>C)
c.3153+16G>C (n.3153+16G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946861C>TCA2685600506KCNH2n.4163+16G>A
c.3330+16G>A (n.3330+16G>A)
c.2310+16G>A (n.2310+16G>A)
c.3030+16G>A (n.3030+16G>A)
c.3180+16G>A (n.3180+16G>A)
c.3153+16G>A (n.3153+16G>A)
gnomAD v4
7g.150946862A=CA1752427273KCNH2n.4163+15T=
c.3330+15T= (n.3330+15T=)
c.2310+15T= (n.2310+15T=)
c.3030+15T= (n.3030+15T=)
c.3180+15T= (n.3180+15T=)
c.3153+15T= (n.3153+15T=)
7g.150946862A>CCA579075286KCNH2n.4163+15T>G
c.3330+15T>G (n.3330+15T>G)
c.2310+15T>G (n.2310+15T>G)
c.3030+15T>G (n.3030+15T>G)
c.3180+15T>G (n.3180+15T>G)
c.3153+15T>G (n.3153+15T>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150946862A>GCA2685600507KCNH2n.4163+15T>C
c.3330+15T>C (n.3330+15T>C)
c.2310+15T>C (n.2310+15T>C)
c.3030+15T>C (n.3030+15T>C)
c.3180+15T>C (n.3180+15T>C)
c.3153+15T>C (n.3153+15T>C)
gnomAD v4
7g.150946863G>ACA2685600509KCNH2n.4163+14C>T
c.3330+14C>T (n.3330+14C>T)
c.2310+14C>T (n.2310+14C>T)
c.3030+14C>T (n.3030+14C>T)
c.3180+14C>T (n.3180+14C>T)
c.3153+14C>T (n.3153+14C>T)
gnomAD v4
7g.150946863G>CCA1752427275KCNH2n.4163+14C>G
c.3330+14C>G (n.3330+14C>G)
c.2310+14C>G (n.2310+14C>G)
c.3030+14C>G (n.3030+14C>G)
c.3180+14C>G (n.3180+14C>G)
c.3153+14C>G (n.3153+14C>G)
dbSNP
7g.150946863G=CA1752427274KCNH2n.4163+14C=
c.3330+14C= (n.3330+14C=)
c.2310+14C= (n.2310+14C=)
c.3030+14C= (n.3030+14C=)
c.3180+14C= (n.3180+14C=)
c.3153+14C= (n.3153+14C=)
7g.150946864G>ACA2685600510KCNH2n.4163+13C>T
c.3330+13C>T (n.3330+13C>T)
c.2310+13C>T (n.2310+13C>T)
c.3030+13C>T (n.3030+13C>T)
c.3180+13C>T (n.3180+13C>T)
c.3153+13C>T (n.3153+13C>T)
gnomAD v4
7g.150946865G>ACA038442KCNH2n.4163+12C>T
c.3330+12C>T (n.3330+12C>T)
c.2310+12C>T (n.2310+12C>T)
c.3030+12C>T (n.3030+12C>T)
c.3180+12C>T (n.3180+12C>T)
c.3153+12C>T (n.3153+12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946865G=CA1752427277KCNH2n.4163+12C=
c.3330+12C= (n.3330+12C=)
c.2310+12C= (n.2310+12C=)
c.3030+12C= (n.3030+12C=)
c.3180+12C= (n.3180+12C=)
c.3153+12C= (n.3153+12C=)
7g.150946865G>TCA2685600512KCNH2n.4163+12C>A
c.3330+12C>A (n.3330+12C>A)
c.2310+12C>A (n.2310+12C>A)
c.3030+12C>A (n.3030+12C>A)
c.3180+12C>A (n.3180+12C>A)
c.3153+12C>A (n.3153+12C>A)
gnomAD v4
7g.150946866C>ACA2685600513KCNH2n.4163+11G>T
c.3330+11G>T (n.3330+11G>T)
c.2310+11G>T (n.2310+11G>T)
c.3030+11G>T (n.3030+11G>T)
c.3180+11G>T (n.3180+11G>T)
c.3153+11G>T (n.3153+11G>T)
gnomAD v4
7g.150946866C=CA1752427282KCNH2n.4163+11G=
c.3330+11G= (n.3330+11G=)
c.2310+11G= (n.2310+11G=)
c.3030+11G= (n.3030+11G=)
c.3180+11G= (n.3180+11G=)
c.3153+11G= (n.3153+11G=)
7g.150946866C>GCA579075287KCNH2n.4163+11G>C
c.3330+11G>C (n.3330+11G>C)
c.2310+11G>C (n.2310+11G>C)
c.3030+11G>C (n.3030+11G>C)
c.3180+11G>C (n.3180+11G>C)
c.3153+11G>C (n.3153+11G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150946866C>TCA1752427280KCNH2n.4163+11G>A
c.3330+11G>A (n.3330+11G>A)
c.2310+11G>A (n.2310+11G>A)
c.3030+11G>A (n.3030+11G>A)
c.3180+11G>A (n.3180+11G>A)
c.3153+11G>A (n.3153+11G>A)
dbSNP gnomAD v4
7g.150946867T>CCA2685600515KCNH2n.4163+10A>G
c.3330+10A>G (n.3330+10A>G)
c.2310+10A>G (n.2310+10A>G)
c.3030+10A>G (n.3030+10A>G)
c.3180+10A>G (n.3180+10A>G)
c.3153+10A>G (n.3153+10A>G)
ClinVar gnomAD v4
7g.150946867_150946870delCA2685600514KCNH2n.4163+7_4163+10del
c.3330+7_3330+10del (n.3330+7_3330+10del)
c.2310+7_2310+10del (n.2310+7_2310+10del)
c.3030+7_3030+10del (n.3030+7_3030+10del)
c.3180+7_3180+10del (n.3180+7_3180+10del)
c.3153+7_3153+10del (n.3153+7_3153+10del)
gnomAD v4
7g.150946868G>CCA2685600516KCNH2n.4163+9C>G
c.3330+9C>G (n.3330+9C>G)
c.2310+9C>G (n.2310+9C>G)
c.3030+9C>G (n.3030+9C>G)
c.3180+9C>G (n.3180+9C>G)
c.3153+9C>G (n.3153+9C>G)
gnomAD v4
7g.150946869delCA2840140922KCNH2n.4163+9del
c.3330+9del (n.3330+9del)
c.2310+9del (n.2310+9del)
c.3030+9del (n.3030+9del)
c.3180+9del (n.3180+9del)
c.3153+9del (n.3153+9del)
7g.150946869G>ACA2739279283KCNH2n.4163+8C>T
c.3330+8C>T (n.3330+8C>T)
c.2310+8C>T (n.2310+8C>T)
c.3030+8C>T (n.3030+8C>T)
c.3180+8C>T (n.3180+8C>T)
c.3153+8C>T (n.3153+8C>T)
ClinVar
7g.150946870A>GCA2685600517KCNH2n.4163+7T>C
c.3330+7T>C (n.3330+7T>C)
c.2310+7T>C (n.2310+7T>C)
c.3030+7T>C (n.3030+7T>C)
c.3180+7T>C (n.3180+7T>C)
c.3153+7T>C (n.3153+7T>C)
gnomAD v4
7g.150946871G>ACA2685600518KCNH2n.4163+6C>T
c.3330+6C>T (n.3330+6C>T)
c.2310+6C>T (n.2310+6C>T)
c.3030+6C>T (n.3030+6C>T)
c.3180+6C>T (n.3180+6C>T)
c.3153+6C>T (n.3153+6C>T)
gnomAD v4
7g.150946871G>CCA2838234477KCNH2n.4163+6C>G
c.3330+6C>G (n.3330+6C>G)
c.2310+6C>G (n.2310+6C>G)
c.3030+6C>G (n.3030+6C>G)
c.3180+6C>G (n.3180+6C>G)
c.3153+6C>G (n.3153+6C>G)
7g.150946872C>ACA2685600519KCNH2n.4163+5G>T
c.3330+5G>T (n.3330+5G>T)
c.2310+5G>T (n.2310+5G>T)
c.3030+5G>T (n.3030+5G>T)
c.3180+5G>T (n.3180+5G>T)
c.3153+5G>T (n.3153+5G>T)
gnomAD v4
7g.150946874delCA2579062509KCNH2n.4163+4del
c.3330+4del (n.3330+4del)
c.2310+4del (n.2310+4del)
c.3030+4del (n.3030+4del)
c.3180+4del (n.3180+4del)
c.3153+4del (n.3153+4del)
7g.150946875A>CCA369851857KCNH2n.4163+2T>G
c.3330+2T>G (n.3330+2T>G)
c.2310+2T>G (n.2310+2T>G)
c.3030+2T>G (n.3030+2T>G)
c.3180+2T>G (n.3180+2T>G)
c.3153+2T>G (n.3153+2T>G)
7g.150946875A>GCA369851858KCNH2n.4163+2T>C
c.3330+2T>C (n.3330+2T>C)
c.2310+2T>C (n.2310+2T>C)
c.3030+2T>C (n.3030+2T>C)
c.3180+2T>C (n.3180+2T>C)
c.3153+2T>C (n.3153+2T>C)
7g.150946875A>TCA369851860KCNH2n.4163+2T>A
c.3330+2T>A (n.3330+2T>A)
c.2310+2T>A (n.2310+2T>A)
c.3030+2T>A (n.3030+2T>A)
c.3180+2T>A (n.3180+2T>A)
c.3153+2T>A (n.3153+2T>A)
7g.150946876C>ACA369851866KCNH2n.4163+1G>T
c.3330+1G>T (n.3330+1G>T)
c.2310+1G>T (n.2310+1G>T)
c.3030+1G>T (n.3030+1G>T)
c.3180+1G>T (n.3180+1G>T)
c.3153+1G>T (n.3153+1G>T)
7g.150946876C=CA1752427287KCNH2n.4163+1G=
c.3330+1G= (n.3330+1G=)
c.2310+1G= (n.2310+1G=)
c.3030+1G= (n.3030+1G=)
c.3180+1G= (n.3180+1G=)
c.3153+1G= (n.3153+1G=)
7g.150946876C>GCA369851863KCNH2n.4163+1G>C
c.3330+1G>C (n.3330+1G>C)
c.2310+1G>C (n.2310+1G>C)
c.3030+1G>C (n.3030+1G>C)
c.3180+1G>C (n.3180+1G>C)
c.3153+1G>C (n.3153+1G>C)
7g.150946876C>TCA369851864KCNH2n.4163+1G>A
c.3330+1G>A (n.3330+1G>A)
c.2310+1G>A (n.2310+1G>A)
c.3030+1G>A (n.3030+1G>A)
c.3180+1G>A (n.3180+1G>A)
c.3153+1G>A (n.3153+1G>A)
ClinVar dbSNP gnomAD v2
7g.150946877C>ACA369851867KCNH2n.4163G>T
c.3330G>T (p.Gln1110His)
c.2310G>T (p.Gln770His)
c.3030G>T (p.Gln1010His)
c.3180G>T (p.Gln1060His)
c.3153G>T (p.Gln1051His)
gnomAD v4
7g.150946877C>GCA369851868KCNH2n.4163G>C
c.3330G>C (p.Gln1110His)
c.2310G>C (p.Gln770His)
c.3030G>C (p.Gln1010His)
c.3180G>C (p.Gln1060His)
c.3153G>C (p.Gln1051His)
gnomAD v4
7g.150946877C>TCA458644621KCNH2n.4163G>A
c.3330G>A (p.Gln1110=)
c.2310G>A (p.Gln770=)
c.3030G>A (p.Gln1010=)
c.3180G>A (p.Gln1060=)
c.3153G>A (p.Gln1051=)
7g.150946878T>ACA369851869KCNH2n.4162A>T
c.3329A>T (p.Gln1110Leu)
c.2309A>T (p.Gln770Leu)
c.3029A>T (p.Gln1010Leu)
c.3179A>T (p.Gln1060Leu)
c.3152A>T (p.Gln1051Leu)
7g.150946878T>CCA369851871KCNH2n.4162A>G
c.3329A>G (p.Gln1110Arg)
c.2309A>G (p.Gln770Arg)
c.3029A>G (p.Gln1010Arg)
c.3179A>G (p.Gln1060Arg)
c.3152A>G (p.Gln1051Arg)
gnomAD v4
7g.150946878T>GCA038431KCNH2n.4162A>C
c.3329A>C (p.Gln1110Pro)
c.2309A>C (p.Gln770Pro)
c.3029A>C (p.Gln1010Pro)
c.3179A>C (p.Gln1060Pro)
c.3152A>C (p.Gln1051Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946878T=CA1752427290KCNH2n.4162A=
c.3329A= (p.Gln1110=)
c.2309A= (p.Gln770=)
c.3029A= (p.Gln1010=)
c.3179A= (p.Gln1060=)
c.3152A= (p.Gln1051=)
7g.150946879G>ACA369851872KCNH2n.4161C>T
c.3328C>T (p.Gln1110Ter)
c.2308C>T (p.Gln770Ter)
c.3028C>T (p.Gln1010Ter)
c.3178C>T (p.Gln1060Ter)
c.3151C>T (p.Gln1051Ter)
7g.150946879G>CCA369851874KCNH2n.4161C>G
c.3328C>G (p.Gln1110Glu)
c.2308C>G (p.Gln770Glu)
c.3028C>G (p.Gln1010Glu)
c.3178C>G (p.Gln1060Glu)
c.3151C>G (p.Gln1051Glu)
COSMIC COSMIC
7g.150946879G>TCA369851875KCNH2n.4161C>A
c.3328C>A (p.Gln1110Lys)
c.2308C>A (p.Gln770Lys)
c.3028C>A (p.Gln1010Lys)
c.3178C>A (p.Gln1060Lys)
c.3151C>A (p.Gln1051Lys)
gnomAD v4
7g.150946880A>CCA458644625KCNH2n.4160T>G
c.3327T>G (p.Ser1109=)
c.2307T>G (p.Ser769=)
c.3027T>G (p.Ser1009=)
c.3177T>G (p.Ser1059=)
c.3150T>G (p.Ser1050=)
7g.150946880A>GCA458644626KCNH2n.4160T>C
c.3327T>C (p.Ser1109=)
c.2307T>C (p.Ser769=)
c.3027T>C (p.Ser1009=)
c.3177T>C (p.Ser1059=)
c.3150T>C (p.Ser1050=)
7g.150946880A>TCA458644627KCNH2n.4160T>A
c.3327T>A (p.Ser1109=)
c.2307T>A (p.Ser769=)
c.3027T>A (p.Ser1009=)
c.3177T>A (p.Ser1059=)
c.3150T>A (p.Ser1050=)
7g.150946881G>ACA369851877KCNH2n.4159C>T
c.3326C>T (p.Ser1109Phe)
c.2306C>T (p.Ser769Phe)
c.3026C>T (p.Ser1009Phe)
c.3176C>T (p.Ser1059Phe)
c.3149C>T (p.Ser1050Phe)
7g.150946881G>CCA369851879KCNH2n.4159C>G
c.3326C>G (p.Ser1109Cys)
c.2306C>G (p.Ser769Cys)
c.3026C>G (p.Ser1009Cys)
c.3176C>G (p.Ser1059Cys)
c.3149C>G (p.Ser1050Cys)
COSMIC
7g.150946881G>TCA369851881KCNH2n.4159C>A
c.3326C>A (p.Ser1109Tyr)
c.2306C>A (p.Ser769Tyr)
c.3026C>A (p.Ser1009Tyr)
c.3176C>A (p.Ser1059Tyr)
c.3149C>A (p.Ser1050Tyr)
7g.150946882A>CCA369851884KCNH2n.4158T>G
c.3325T>G (p.Ser1109Ala)
c.2305T>G (p.Ser769Ala)
c.3025T>G (p.Ser1009Ala)
c.3175T>G (p.Ser1059Ala)
c.3148T>G (p.Ser1050Ala)
7g.150946882A>GCA369851886KCNH2n.4158T>C
c.3325T>C (p.Ser1109Pro)
c.2305T>C (p.Ser769Pro)
c.3025T>C (p.Ser1009Pro)
c.3175T>C (p.Ser1059Pro)
c.3148T>C (p.Ser1050Pro)
7g.150946882A>TCA369851882KCNH2n.4158T>A
c.3325T>A (p.Ser1109Thr)
c.2305T>A (p.Ser769Thr)
c.3025T>A (p.Ser1009Thr)
c.3175T>A (p.Ser1059Thr)
c.3148T>A (p.Ser1050Thr)
7g.150946883A=CA1752427293KCNH2n.4157T=
c.3324T= (p.Leu1108=)
c.2304T= (p.Leu768=)
c.3024T= (p.Leu1008=)
c.3174T= (p.Leu1058=)
c.3147T= (p.Leu1049=)
7g.150946883A>CCA038412KCNH2n.4157T>G
c.3324T>G (p.Leu1108=)
c.2304T>G (p.Leu768=)
c.3024T>G (p.Leu1008=)
c.3174T>G (p.Leu1058=)
c.3147T>G (p.Leu1049=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946883A>GCA458644629KCNH2n.4157T>C
c.3324T>C (p.Leu1108=)
c.2304T>C (p.Leu768=)
c.3024T>C (p.Leu1008=)
c.3174T>C (p.Leu1058=)
c.3147T>C (p.Leu1049=)
7g.150946883A>TCA458644631KCNH2n.4157T>A
c.3324T>A (p.Leu1108=)
c.2304T>A (p.Leu768=)
c.3024T>A (p.Leu1008=)
c.3174T>A (p.Leu1058=)
c.3147T>A (p.Leu1049=)
7g.150946884A>CCA369851889KCNH2n.4156T>G
c.3323T>G (p.Leu1108Arg)
c.2303T>G (p.Leu768Arg)
c.3023T>G (p.Leu1008Arg)
c.3173T>G (p.Leu1058Arg)
c.3146T>G (p.Leu1049Arg)
7g.150946884A>GCA369851891KCNH2n.4156T>C
c.3323T>C (p.Leu1108Pro)
c.2303T>C (p.Leu768Pro)
c.3023T>C (p.Leu1008Pro)
c.3173T>C (p.Leu1058Pro)
c.3146T>C (p.Leu1049Pro)
7g.150946884A>TCA369851892KCNH2n.4156T>A
c.3323T>A (p.Leu1108His)
c.2303T>A (p.Leu768His)
c.3023T>A (p.Leu1008His)
c.3173T>A (p.Leu1058His)
c.3146T>A (p.Leu1049His)
7g.150946885G>ACA369851894KCNH2n.4155C>T
c.3322C>T (p.Leu1108Phe)
c.2302C>T (p.Leu768Phe)
c.3022C>T (p.Leu1008Phe)
c.3172C>T (p.Leu1058Phe)
c.3145C>T (p.Leu1049Phe)
7g.150946885G>CCA008187KCNH2n.4155C>G
c.3322C>G (p.Leu1108Val)
c.2302C>G (p.Leu768Val)
c.3022C>G (p.Leu1008Val)
c.3172C>G (p.Leu1058Val)
c.3145C>G (p.Leu1049Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150946885G=CA1752427299KCNH2n.4155C=
c.3322C= (p.Leu1108=)
c.2302C= (p.Leu768=)
c.3022C= (p.Leu1008=)
c.3172C= (p.Leu1058=)
c.3145C= (p.Leu1049=)
7g.150946885G>TCA369851897KCNH2n.4155C>A
c.3322C>A (p.Leu1108Ile)
c.2302C>A (p.Leu768Ile)
c.3022C>A (p.Leu1008Ile)
c.3172C>A (p.Leu1058Ile)
c.3145C>A (p.Leu1049Ile)
7g.150946886C>ACA458644633KCNH2n.4154G>T
c.3321G>T (p.Ser1107=)
c.2301G>T (p.Ser767=)
c.3021G>T (p.Ser1007=)
c.3171G>T (p.Ser1057=)
c.3144G>T (p.Ser1048=)
7g.150946886C=CA1752427317KCNH2n.4154G=
c.3321G= (p.Ser1107=)
c.2301G= (p.Ser767=)
c.3021G= (p.Ser1007=)
c.3171G= (p.Ser1057=)
c.3144G= (p.Ser1048=)
7g.150946886C>GCA038392KCNH2n.4154G>C
c.3321G>C (p.Ser1107=)
c.2301G>C (p.Ser767=)
c.3021G>C (p.Ser1007=)
c.3171G>C (p.Ser1057=)
c.3144G>C (p.Ser1048=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946886C>TCA038381KCNH2n.4154G>A
c.3321G>A (p.Ser1107=)
c.2301G>A (p.Ser767=)
c.3021G>A (p.Ser1007=)
c.3171G>A (p.Ser1057=)
c.3144G>A (p.Ser1048=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946886_150946887insTGCA2685600521KCNH2n.4153_4154insCA
c.3320_3321insCA (p.Leu1108SerfsTer?)
c.2300_2301insCA (p.Leu768SerfsTer?)
c.3020_3021insCA (p.Leu1008SerfsTer?)
c.3170_3171insCA (p.Leu1058SerfsTer?)
c.3143_3144insCA (p.Leu1049SerfsTer?)
gnomAD v4
7g.150946887G>ACA369851900KCNH2n.4153C>T
c.3320C>T (p.Ser1107Leu)
c.2300C>T (p.Ser767Leu)
c.3020C>T (p.Ser1007Leu)
c.3170C>T (p.Ser1057Leu)
c.3143C>T (p.Ser1048Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946887G>CCA369851901KCNH2n.4153C>G
c.3320C>G (p.Ser1107Trp)
c.2300C>G (p.Ser767Trp)
c.3020C>G (p.Ser1007Trp)
c.3170C>G (p.Ser1057Trp)
c.3143C>G (p.Ser1048Trp)
gnomAD v4
7g.150946887G=CA1752427320KCNH2n.4153C=
c.3320C= (p.Ser1107=)
c.2300C= (p.Ser767=)
c.3020C= (p.Ser1007=)
c.3170C= (p.Ser1057=)
c.3143C= (p.Ser1048=)
7g.150946887G>TCA369851903KCNH2n.4153C>A
c.3320C>A (p.Ser1107Ter)
c.2300C>A (p.Ser767Ter)
c.3020C>A (p.Ser1007Ter)
c.3170C>A (p.Ser1057Ter)
c.3143C>A (p.Ser1048Ter)
7g.150946888A>CCA369851907KCNH2n.4152T>G
c.3319T>G (p.Ser1107Ala)
c.2299T>G (p.Ser767Ala)
c.3019T>G (p.Ser1007Ala)
c.3169T>G (p.Ser1057Ala)
c.3142T>G (p.Ser1048Ala)
7g.150946888A>GCA369851908KCNH2n.4152T>C
c.3319T>C (p.Ser1107Pro)
c.2299T>C (p.Ser767Pro)
c.3019T>C (p.Ser1007Pro)
c.3169T>C (p.Ser1057Pro)
c.3142T>C (p.Ser1048Pro)
gnomAD v4
7g.150946888A>TCA369851905KCNH2n.4152T>A
c.3319T>A (p.Ser1107Thr)
c.2299T>A (p.Ser767Thr)
c.3019T>A (p.Ser1007Thr)
c.3169T>A (p.Ser1057Thr)
c.3142T>A (p.Ser1048Thr)
7g.150946889G>ACA038364KCNH2n.4151C>T
c.3318C>T (p.Asp1106=)
c.2298C>T (p.Asp766=)
c.3018C>T (p.Asp1006=)
c.3168C>T (p.Asp1056=)
c.3141C>T (p.Asp1047=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946889G>CCA369851909KCNH2n.4151C>G
c.3318C>G (p.Asp1106Glu)
c.2298C>G (p.Asp766Glu)
c.3018C>G (p.Asp1006Glu)
c.3168C>G (p.Asp1056Glu)
c.3141C>G (p.Asp1047Glu)
7g.150946889G=CA1752427323KCNH2n.4151C=
c.3318C= (p.Asp1106=)
c.2298C= (p.Asp766=)
c.3018C= (p.Asp1006=)
c.3168C= (p.Asp1056=)
c.3141C= (p.Asp1047=)
7g.150946889G>TCA369851911KCNH2n.4151C>A
c.3318C>A (p.Asp1106Glu)
c.2298C>A (p.Asp766Glu)
c.3018C>A (p.Asp1006Glu)
c.3168C>A (p.Asp1056Glu)
c.3141C>A (p.Asp1047Glu)
7g.150946889_150946890insCCA2685600522KCNH2n.4150_4151insG
c.3317_3318insG (p.Asp1106GlufsTer13)
c.2297_2298insG (p.Asp766GlufsTer13)
c.3017_3018insG (p.Asp1006GlufsTer13)
c.3167_3168insG (p.Asp1056GlufsTer13)
c.3140_3141insG (p.Asp1047GlufsTer13)
gnomAD v4
7g.150946890T>ACA369851913KCNH2n.4150A>T
c.3317A>T (p.Asp1106Val)
c.2297A>T (p.Asp766Val)
c.3017A>T (p.Asp1006Val)
c.3167A>T (p.Asp1056Val)
c.3140A>T (p.Asp1047Val)
7g.150946890T>CCA369851915KCNH2n.4150A>G
c.3317A>G (p.Asp1106Gly)
c.2297A>G (p.Asp766Gly)
c.3017A>G (p.Asp1006Gly)
c.3167A>G (p.Asp1056Gly)
c.3140A>G (p.Asp1047Gly)
7g.150946890T>GCA369851916KCNH2n.4150A>C
c.3317A>C (p.Asp1106Ala)
c.2297A>C (p.Asp766Ala)
c.3017A>C (p.Asp1006Ala)
c.3167A>C (p.Asp1056Ala)
c.3140A>C (p.Asp1047Ala)
dbSNP gnomAD v3 gnomAD v4
7g.150946890T=CA1752427325KCNH2n.4150A=
c.3317A= (p.Asp1106=)
c.2297A= (p.Asp766=)
c.3017A= (p.Asp1006=)
c.3167A= (p.Asp1056=)
c.3140A= (p.Asp1047=)
7g.150946890_150946891insTACCCTCACCA2685600523KCNH2n.4149_4150insGTGAGGGTA
c.3316_3317insGTGAGGGTA (p.Asp1106delinsGlyGluGlyAsn)
c.2296_2297insGTGAGGGTA (p.Asp766delinsGlyGluGlyAsn)
c.3016_3017insGTGAGGGTA (p.Asp1006delinsGlyGluGlyAsn)
c.3166_3167insGTGAGGGTA (p.Asp1056delinsGlyGluGlyAsn)
c.3139_3140insGTGAGGGTA (p.Asp1047delinsGlyGluGlyAsn)
gnomAD v4
7g.150946891C>ACA369851918KCNH2n.4149G>T
c.3316G>T (p.Asp1106Tyr)
c.2296G>T (p.Asp766Tyr)
c.3016G>T (p.Asp1006Tyr)
c.3166G>T (p.Asp1056Tyr)
c.3139G>T (p.Asp1047Tyr)
gnomAD v4
7g.150946891C=CA1752427328KCNH2n.4149G=
c.3316G= (p.Asp1106=)
c.2296G= (p.Asp766=)
c.3016G= (p.Asp1006=)
c.3166G= (p.Asp1056=)
c.3139G= (p.Asp1047=)
7g.150946891C>GCA369851922KCNH2n.4149G>C
c.3316G>C (p.Asp1106His)
c.2296G>C (p.Asp766His)
c.3016G>C (p.Asp1006His)
c.3166G>C (p.Asp1056His)
c.3139G>C (p.Asp1047His)
7g.150946891C>TCA369851920KCNH2n.4149G>A
c.3316G>A (p.Asp1106Asn)
c.2296G>A (p.Asp766Asn)
c.3016G>A (p.Asp1006Asn)
c.3166G>A (p.Asp1056Asn)
c.3139G>A (p.Asp1047Asn)
dbSNP gnomAD v4
7g.150946892C>ACA369851923KCNH2n.4148G>T
c.3315G>T (p.Leu1105Phe)
c.2295G>T (p.Leu765Phe)
c.3015G>T (p.Leu1005Phe)
c.3165G>T (p.Leu1055Phe)
c.3138G>T (p.Leu1046Phe)
gnomAD v4
7g.150946892C=CA1752427332KCNH2n.4148G=
c.3315G= (p.Leu1105=)
c.2295G= (p.Leu765=)
c.3015G= (p.Leu1005=)
c.3165G= (p.Leu1055=)
c.3138G= (p.Leu1046=)
7g.150946892C>GCA369851924KCNH2n.4148G>C
c.3315G>C (p.Leu1105Phe)
c.2295G>C (p.Leu765Phe)
c.3015G>C (p.Leu1005Phe)
c.3165G>C (p.Leu1055Phe)
c.3138G>C (p.Leu1046Phe)
ClinVar dbSNP
7g.150946892C>TCA458644636KCNH2n.4148G>A
c.3315G>A (p.Leu1105=)
c.2295G>A (p.Leu765=)
c.3015G>A (p.Leu1005=)
c.3165G>A (p.Leu1055=)
c.3138G>A (p.Leu1046=)
gnomAD v4
7g.150946893A=CA1752427336KCNH2n.4147T=
c.3314T= (p.Leu1105=)
c.2294T= (p.Leu765=)
c.3014T= (p.Leu1005=)
c.3164T= (p.Leu1055=)
c.3137T= (p.Leu1046=)
7g.150946893A>CCA369851926KCNH2n.4147T>G
c.3314T>G (p.Leu1105Trp)
c.2294T>G (p.Leu765Trp)
c.3014T>G (p.Leu1005Trp)
c.3164T>G (p.Leu1055Trp)
c.3137T>G (p.Leu1046Trp)
7g.150946893A>GCA038347KCNH2n.4147T>C
c.3314T>C (p.Leu1105Ser)
c.2294T>C (p.Leu765Ser)
c.3014T>C (p.Leu1005Ser)
c.3164T>C (p.Leu1055Ser)
c.3137T>C (p.Leu1046Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946893A>TCA369851928KCNH2n.4147T>A
c.3314T>A (p.Leu1105Ter)
c.2294T>A (p.Leu765Ter)
c.3014T>A (p.Leu1005Ter)
c.3164T>A (p.Leu1055Ter)
c.3137T>A (p.Leu1046Ter)
7g.150946894delCA2685600525KCNH2n.4147del
c.3314del (p.Leu1105TrpfsTer?)
c.2294del (p.Leu765TrpfsTer?)
c.3014del (p.Leu1005TrpfsTer?)
c.3164del (p.Leu1055TrpfsTer?)
c.3137del (p.Leu1046TrpfsTer?)
gnomAD v4
7g.150946894A>CCA369851930KCNH2n.4146T>G
c.3313T>G (p.Leu1105Val)
c.2293T>G (p.Leu765Val)
c.3013T>G (p.Leu1005Val)
c.3163T>G (p.Leu1055Val)
c.3136T>G (p.Leu1046Val)
7g.150946894A>GCA458644638KCNH2n.4146T>C
c.3313T>C (p.Leu1105=)
c.2293T>C (p.Leu765=)
c.3013T>C (p.Leu1005=)
c.3163T>C (p.Leu1055=)
c.3136T>C (p.Leu1046=)
gnomAD v4
7g.150946894A>TCA369851931KCNH2n.4146T>A
c.3313T>A (p.Leu1105Met)
c.2293T>A (p.Leu765Met)
c.3013T>A (p.Leu1005Met)
c.3163T>A (p.Leu1055Met)
c.3136T>A (p.Leu1046Met)
7g.150946895G>ACA458644639KCNH2n.4145C>T
c.3312C>T (p.Thr1104=)
c.2292C>T (p.Thr764=)
c.3012C>T (p.Thr1004=)
c.3162C>T (p.Thr1054=)
c.3135C>T (p.Thr1045=)
ClinVar
7g.150946895G>CCA458644640KCNH2n.4145C>G
c.3312C>G (p.Thr1104=)
c.2292C>G (p.Thr764=)
c.3012C>G (p.Thr1004=)
c.3162C>G (p.Thr1054=)
c.3135C>G (p.Thr1045=)
7g.150946895G>TCA458644641KCNH2n.4145C>A
c.3312C>A (p.Thr1104=)
c.2292C>A (p.Thr764=)
c.3012C>A (p.Thr1004=)
c.3162C>A (p.Thr1054=)
c.3135C>A (p.Thr1045=)
7g.150946896G>ACA038325KCNH2n.4144C>T
c.3311C>T (p.Thr1104Ile)
c.2291C>T (p.Thr764Ile)
c.3011C>T (p.Thr1004Ile)
c.3161C>T (p.Thr1054Ile)
c.3134C>T (p.Thr1045Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946896G>CCA369851935KCNH2n.4144C>G
c.3311C>G (p.Thr1104Ser)
c.2291C>G (p.Thr764Ser)
c.3011C>G (p.Thr1004Ser)
c.3161C>G (p.Thr1054Ser)
c.3134C>G (p.Thr1045Ser)
7g.150946896G=CA1752427338KCNH2n.4144C=
c.3311C= (p.Thr1104=)
c.2291C= (p.Thr764=)
c.3011C= (p.Thr1004=)
c.3161C= (p.Thr1054=)
c.3134C= (p.Thr1045=)
7g.150946896G>TCA369851934KCNH2n.4144C>A
c.3311C>A (p.Thr1104Asn)
c.2291C>A (p.Thr764Asn)
c.3011C>A (p.Thr1004Asn)
c.3161C>A (p.Thr1054Asn)
c.3134C>A (p.Thr1045Asn)
dbSNP gnomAD v2 gnomAD v4
7g.150946897T>ACA369851937KCNH2n.4143A>T
c.3310A>T (p.Thr1104Ser)
c.2290A>T (p.Thr764Ser)
c.3010A>T (p.Thr1004Ser)
c.3160A>T (p.Thr1054Ser)
c.3133A>T (p.Thr1045Ser)
7g.150946897T>CCA369851938KCNH2n.4143A>G
c.3310A>G (p.Thr1104Ala)
c.2290A>G (p.Thr764Ala)
c.3010A>G (p.Thr1004Ala)
c.3160A>G (p.Thr1054Ala)
c.3133A>G (p.Thr1045Ala)
7g.150946897T>GCA169071190KCNH2n.4143A>C
c.3310A>C (p.Thr1104Pro)
c.2290A>C (p.Thr764Pro)
c.3010A>C (p.Thr1004Pro)
c.3160A>C (p.Thr1054Pro)
c.3133A>C (p.Thr1045Pro)
dbSNP gnomAD v3 gnomAD v4
7g.150946897T=CA1752427343KCNH2n.4143A=
c.3310A= (p.Thr1104=)
c.2290A= (p.Thr764=)
c.3010A= (p.Thr1004=)
c.3160A= (p.Thr1054=)
c.3133A= (p.Thr1045=)
7g.150946898G>ACA458644642KCNH2n.4142C>T
c.3309C>T (p.Leu1103=)
c.2289C>T (p.Leu763=)
c.3009C>T (p.Leu1003=)
c.3159C>T (p.Leu1053=)
c.3132C>T (p.Leu1044=)
dbSNP
7g.150946898G>CCA458644643KCNH2n.4142C>G
c.3309C>G (p.Leu1103=)
c.2289C>G (p.Leu763=)
c.3009C>G (p.Leu1003=)
c.3159C>G (p.Leu1053=)
c.3132C>G (p.Leu1044=)
7g.150946898G=CA1752427345KCNH2n.4142C=
c.3309C= (p.Leu1103=)
c.2289C= (p.Leu763=)
c.3009C= (p.Leu1003=)
c.3159C= (p.Leu1053=)
c.3132C= (p.Leu1044=)
7g.150946898G>TCA458644644KCNH2n.4142C>A
c.3309C>A (p.Leu1103=)
c.2289C>A (p.Leu763=)
c.3009C>A (p.Leu1003=)
c.3159C>A (p.Leu1053=)
c.3132C>A (p.Leu1044=)
7g.150946899A=CA1752427348KCNH2n.4141T=
c.3308T= (p.Leu1103=)
c.2288T= (p.Leu763=)
c.3008T= (p.Leu1003=)
c.3158T= (p.Leu1053=)
c.3131T= (p.Leu1044=)
7g.150946899A>CCA369851941KCNH2n.4141T>G
c.3308T>G (p.Leu1103Arg)
c.2288T>G (p.Leu763Arg)
c.3008T>G (p.Leu1003Arg)
c.3158T>G (p.Leu1053Arg)
c.3131T>G (p.Leu1044Arg)
7g.150946899A>GCA038307KCNH2n.4141T>C
c.3308T>C (p.Leu1103Pro)
c.2288T>C (p.Leu763Pro)
c.3008T>C (p.Leu1003Pro)
c.3158T>C (p.Leu1053Pro)
c.3131T>C (p.Leu1044Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946899A>TCA369851942KCNH2n.4141T>A
c.3308T>A (p.Leu1103His)
c.2288T>A (p.Leu763His)
c.3008T>A (p.Leu1003His)
c.3158T>A (p.Leu1053His)
c.3131T>A (p.Leu1044His)
7g.150946900G>ACA369851944KCNH2n.4140C>T
c.3307C>T (p.Leu1103Phe)
c.2287C>T (p.Leu763Phe)
c.3007C>T (p.Leu1003Phe)
c.3157C>T (p.Leu1053Phe)
c.3130C>T (p.Leu1044Phe)
COSMIC COSMIC
7g.150946900G>CCA369851946KCNH2n.4140C>G
c.3307C>G (p.Leu1103Val)
c.2287C>G (p.Leu763Val)
c.3007C>G (p.Leu1003Val)
c.3157C>G (p.Leu1053Val)
c.3130C>G (p.Leu1044Val)
7g.150946900G>TCA369851948KCNH2n.4140C>A
c.3307C>A (p.Leu1103Ile)
c.2287C>A (p.Leu763Ile)
c.3007C>A (p.Leu1003Ile)
c.3157C>A (p.Leu1053Ile)
c.3130C>A (p.Leu1044Ile)
7g.150946901G>ACA458644646KCNH2n.4139C>T
c.3306C>T (p.Thr1102=)
c.2286C>T (p.Thr762=)
c.3006C>T (p.Thr1002=)
c.3156C>T (p.Thr1052=)
c.3129C>T (p.Thr1043=)
gnomAD v4
7g.150946901G>CCA458644647KCNH2n.4139C>G
c.3306C>G (p.Thr1102=)
c.2286C>G (p.Thr762=)
c.3006C>G (p.Thr1002=)
c.3156C>G (p.Thr1052=)
c.3129C>G (p.Thr1043=)
7g.150946901G>TCA458644648KCNH2n.4139C>A
c.3306C>A (p.Thr1102=)
c.2286C>A (p.Thr762=)
c.3006C>A (p.Thr1002=)
c.3156C>A (p.Thr1052=)
c.3129C>A (p.Thr1043=)
7g.150946902G>ACA008180KCNH2n.4138C>T
c.3305C>T (p.Thr1102Ile)
c.2285C>T (p.Thr762Ile)
c.3005C>T (p.Thr1002Ile)
c.3155C>T (p.Thr1052Ile)
c.3128C>T (p.Thr1043Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150946902G>CCA369851950KCNH2n.4138C>G
c.3305C>G (p.Thr1102Ser)
c.2285C>G (p.Thr762Ser)
c.3005C>G (p.Thr1002Ser)
c.3155C>G (p.Thr1052Ser)
c.3128C>G (p.Thr1043Ser)
7g.150946902G=CA1752427356KCNH2n.4138C=
c.3305C= (p.Thr1102=)
c.2285C= (p.Thr762=)
c.3005C= (p.Thr1002=)
c.3155C= (p.Thr1052=)
c.3128C= (p.Thr1043=)
7g.150946902G>TCA369851952KCNH2n.4138C>A
c.3305C>A (p.Thr1102Asn)
c.2285C>A (p.Thr762Asn)
c.3005C>A (p.Thr1002Asn)
c.3155C>A (p.Thr1052Asn)
c.3128C>A (p.Thr1043Asn)
gnomAD v4
7g.150946903T>ACA369851953KCNH2n.4137A>T
c.3304A>T (p.Thr1102Ser)
c.2284A>T (p.Thr762Ser)
c.3004A>T (p.Thr1002Ser)
c.3154A>T (p.Thr1052Ser)
c.3127A>T (p.Thr1043Ser)
7g.150946903T>CCA369851956KCNH2n.4137A>G
c.3304A>G (p.Thr1102Ala)
c.2284A>G (p.Thr762Ala)
c.3004A>G (p.Thr1002Ala)
c.3154A>G (p.Thr1052Ala)
c.3127A>G (p.Thr1043Ala)
7g.150946903T>GCA369851954KCNH2n.4137A>C
c.3304A>C (p.Thr1102Pro)
c.2284A>C (p.Thr762Pro)
c.3004A>C (p.Thr1002Pro)
c.3154A>C (p.Thr1052Pro)
c.3127A>C (p.Thr1043Pro)
dbSNP gnomAD v3 gnomAD v4
7g.150946903T=CA1752427362KCNH2n.4137A=
c.3304A= (p.Thr1102=)
c.2284A= (p.Thr762=)
c.3004A= (p.Thr1002=)
c.3154A= (p.Thr1052=)
c.3127A= (p.Thr1043=)
7g.150946903_150946928delinsTGGGGAGGGGGCTGACGGGCAACAGCCA1752427363KCNH2n.4112_4137delinsGCTGTTGCCCGTCAGCCCCCTCCCCA
c.3279_3304delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1093=)
c.2259_2284delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro753=)
c.2979_3004delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro993=)
c.3129_3154delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1043=)
c.3102_3127delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1034=)
7g.150946904G>ACA038286KCNH2n.4136C>T
c.3303C>T (p.Pro1101=)
c.2283C>T (p.Pro761=)
c.3003C>T (p.Pro1001=)
c.3153C>T (p.Pro1051=)
c.3126C>T (p.Pro1042=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946904G>CCA458644650KCNH2n.4136C>G
c.3303C>G (p.Pro1101=)
c.2283C>G (p.Pro761=)
c.3003C>G (p.Pro1001=)
c.3153C>G (p.Pro1051=)
c.3126C>G (p.Pro1042=)
dbSNP gnomAD v4
7g.150946904G=CA1752427370KCNH2n.4136C=
c.3303C= (p.Pro1101=)
c.2283C= (p.Pro761=)
c.3003C= (p.Pro1001=)
c.3153C= (p.Pro1051=)
c.3126C= (p.Pro1042=)
7g.150946904G>TCA458644652KCNH2n.4136C>A
c.3303C>A (p.Pro1101=)
c.2283C>A (p.Pro761=)
c.3003C>A (p.Pro1001=)
c.3153C>A (p.Pro1051=)
c.3126C>A (p.Pro1042=)
gnomAD v4
7g.150946907dupCA2695208688KCNH2n.4136dup
c.3303dup (p.Thr1102HisfsTer17)
c.2283dup (p.Thr762HisfsTer17)
c.3003dup (p.Thr1002HisfsTer17)
c.3153dup (p.Thr1052HisfsTer17)
c.3126dup (p.Thr1043HisfsTer17)
7g.150946907delCA2685600553KCNH2n.4136del
c.3303del (p.Thr1102ProfsTer?)
c.2283del (p.Thr762ProfsTer?)
c.3003del (p.Thr1002ProfsTer?)
c.3153del (p.Thr1052ProfsTer?)
c.3126del (p.Thr1043ProfsTer?)
gnomAD v4
7g.150946909_150946933delCA658656007KCNH2n.4112_4136del
c.3279_3303del (p.Leu1094ProfsTer?)
c.2259_2283del (p.Leu754ProfsTer?)
c.2979_3003del (p.Leu994ProfsTer?)
c.3129_3153del (p.Leu1044ProfsTer?)
c.3102_3126del (p.Leu1035ProfsTer?)
ClinVar dbSNP
7g.150946905G>ACA008172KCNH2n.4135C>T
c.3302C>T (p.Pro1101Leu)
c.2282C>T (p.Pro761Leu)
c.3002C>T (p.Pro1001Leu)
c.3152C>T (p.Pro1051Leu)
c.3125C>T (p.Pro1042Leu)
ClinVar dbSNP gnomAD v4
7g.150946905G>CCA369851959KCNH2n.4135C>G
c.3302C>G (p.Pro1101Arg)
c.2282C>G (p.Pro761Arg)
c.3002C>G (p.Pro1001Arg)
c.3152C>G (p.Pro1051Arg)
c.3125C>G (p.Pro1042Arg)
dbSNP gnomAD v3 gnomAD v4
7g.150946905G=CA1752427398KCNH2n.4135C=
c.3302C= (p.Pro1101=)
c.2282C= (p.Pro761=)
c.3002C= (p.Pro1001=)
c.3152C= (p.Pro1051=)
c.3125C= (p.Pro1042=)
7g.150946905G>TCA369851961KCNH2n.4135C>A
c.3302C>A (p.Pro1101His)
c.2282C>A (p.Pro761His)
c.3002C>A (p.Pro1001His)
c.3152C>A (p.Pro1051His)
c.3125C>A (p.Pro1042His)
gnomAD v4
7g.150946906G>ACA369851963KCNH2n.4134C>T
c.3301C>T (p.Pro1101Ser)
c.2281C>T (p.Pro761Ser)
c.3001C>T (p.Pro1001Ser)
c.3151C>T (p.Pro1051Ser)
c.3124C>T (p.Pro1042Ser)
ClinVar dbSNP gnomAD v4
7g.150946906G>CCA369851965KCNH2n.4134C>G
c.3301C>G (p.Pro1101Ala)
c.2281C>G (p.Pro761Ala)
c.3001C>G (p.Pro1001Ala)
c.3151C>G (p.Pro1051Ala)
c.3124C>G (p.Pro1042Ala)
dbSNP gnomAD v4
7g.150946906G=CA1752427408KCNH2n.4134C=
c.3301C= (p.Pro1101=)
c.2281C= (p.Pro761=)
c.3001C= (p.Pro1001=)
c.3151C= (p.Pro1051=)
c.3124C= (p.Pro1042=)
7g.150946906G>TCA369851966KCNH2n.4134C>A
c.3301C>A (p.Pro1101Thr)
c.2281C>A (p.Pro761Thr)
c.3001C>A (p.Pro1001Thr)
c.3151C>A (p.Pro1051Thr)
c.3124C>A (p.Pro1042Thr)
7g.150946907G>ACA458644653KCNH2n.4133C>T
c.3300C>T (p.Leu1100=)
c.2280C>T (p.Leu760=)
c.3000C>T (p.Leu1000=)
c.3150C>T (p.Leu1050=)
c.3123C>T (p.Leu1041=)
7g.150946907G>CCA458644655KCNH2n.4133C>G
c.3300C>G (p.Leu1100=)
c.2280C>G (p.Leu760=)
c.3000C>G (p.Leu1000=)
c.3150C>G (p.Leu1050=)
c.3123C>G (p.Leu1041=)
7g.150946907G>TCA458644654KCNH2n.4133C>A
c.3300C>A (p.Leu1100=)
c.2280C>A (p.Leu760=)
c.3000C>A (p.Leu1000=)
c.3150C>A (p.Leu1050=)
c.3123C>A (p.Leu1041=)
COSMIC COSMIC
7g.150946908A>CCA369851968KCNH2n.4132T>G
c.3299T>G (p.Leu1100Arg)
c.2279T>G (p.Leu760Arg)
c.2999T>G (p.Leu1000Arg)
c.3149T>G (p.Leu1050Arg)
c.3122T>G (p.Leu1041Arg)
7g.150946908A>GCA369851970KCNH2n.4132T>C
c.3299T>C (p.Leu1100Pro)
c.2279T>C (p.Leu760Pro)
c.2999T>C (p.Leu1000Pro)
c.3149T>C (p.Leu1050Pro)
c.3122T>C (p.Leu1041Pro)
7g.150946908A>TCA369851971KCNH2n.4132T>A
c.3299T>A (p.Leu1100His)
c.2279T>A (p.Leu760His)
c.2999T>A (p.Leu1000His)
c.3149T>A (p.Leu1050His)
c.3122T>A (p.Leu1041His)
7g.150946909G>ACA369851975KCNH2n.4131C>T
c.3298C>T (p.Leu1100Phe)
c.2278C>T (p.Leu760Phe)
c.2998C>T (p.Leu1000Phe)
c.3148C>T (p.Leu1050Phe)
c.3121C>T (p.Leu1041Phe)
gnomAD v4
7g.150946909G>CCA369851976KCNH2n.4131C>G
c.3298C>G (p.Leu1100Val)
c.2278C>G (p.Leu760Val)
c.2998C>G (p.Leu1000Val)
c.3148C>G (p.Leu1050Val)
c.3121C>G (p.Leu1041Val)
7g.150946909G>TCA369851973KCNH2n.4131C>A
c.3298C>A (p.Leu1100Ile)
c.2278C>A (p.Leu760Ile)
c.2998C>A (p.Leu1000Ile)
c.3148C>A (p.Leu1050Ile)
c.3121C>A (p.Leu1041Ile)
7g.150946913delCA645565630KCNH2n.4131del
c.3298del (p.Leu1100SerfsTer?)
c.2278del (p.Leu760SerfsTer?)
c.2998del (p.Leu1000SerfsTer?)
c.3148del (p.Leu1050SerfsTer?)
c.3121del (p.Leu1041SerfsTer?)
COSMIC COSMIC
7g.150946910G>ACA458644657KCNH2n.4130C>T
c.3297C>T (p.Pro1099=)
c.2277C>T (p.Pro759=)
c.2997C>T (p.Pro999=)
c.3147C>T (p.Pro1049=)
c.3120C>T (p.Pro1040=)
7g.150946910G>CCA458644659KCNH2n.4130C>G
c.3297C>G (p.Pro1099=)
c.2277C>G (p.Pro759=)
c.2997C>G (p.Pro999=)
c.3147C>G (p.Pro1049=)
c.3120C>G (p.Pro1040=)
gnomAD v4
7g.150946910G>TCA458644661KCNH2n.4130C>A
c.3297C>A (p.Pro1099=)
c.2277C>A (p.Pro759=)
c.2997C>A (p.Pro999=)
c.3147C>A (p.Pro1049=)
c.3120C>A (p.Pro1040=)
7g.150946911G>ACA369851978KCNH2n.4129C>T
c.3296C>T (p.Pro1099Leu)
c.2276C>T (p.Pro759Leu)
c.2996C>T (p.Pro999Leu)
c.3146C>T (p.Pro1049Leu)
c.3119C>T (p.Pro1040Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150946911G>CCA369851979KCNH2n.4129C>G
c.3296C>G (p.Pro1099Arg)
c.2276C>G (p.Pro759Arg)
c.2996C>G (p.Pro999Arg)
c.3146C>G (p.Pro1049Arg)
c.3119C>G (p.Pro1040Arg)
7g.150946911G=CA1752427420KCNH2n.4129C=
c.3296C= (p.Pro1099=)
c.2276C= (p.Pro759=)
c.2996C= (p.Pro999=)
c.3146C= (p.Pro1049=)
c.3119C= (p.Pro1040=)
7g.150946911G>TCA369851981KCNH2n.4129C>A
c.3296C>A (p.Pro1099His)
c.2276C>A (p.Pro759His)
c.2996C>A (p.Pro999His)
c.3146C>A (p.Pro1049His)
c.3119C>A (p.Pro1040His)
7g.150946915_150946922delCA2695208689KCNH2n.4122_4129del
c.3289_3296del (p.Val1097ProfsTer19)
c.2269_2276del (p.Val757ProfsTer19)
c.2989_2996del (p.Val997ProfsTer19)
c.3139_3146del (p.Val1047ProfsTer19)
c.3112_3119del (p.Val1038ProfsTer19)
7g.150946912G>ACA369851983KCNH2n.4128C>T
c.3295C>T (p.Pro1099Ser)
c.2275C>T (p.Pro759Ser)
c.2995C>T (p.Pro999Ser)
c.3145C>T (p.Pro1049Ser)
c.3118C>T (p.Pro1040Ser)
7g.150946912G>CCA369851985KCNH2n.4128C>G
c.3295C>G (p.Pro1099Ala)
c.2275C>G (p.Pro759Ala)
c.2995C>G (p.Pro999Ala)
c.3145C>G (p.Pro1049Ala)
c.3118C>G (p.Pro1040Ala)
7g.150946912G>TCA369851986KCNH2n.4128C>A
c.3295C>A (p.Pro1099Thr)
c.2275C>A (p.Pro759Thr)
c.2995C>A (p.Pro999Thr)
c.3145C>A (p.Pro1049Thr)
c.3118C>A (p.Pro1040Thr)
gnomAD v4
7g.150946913G>ACA458644662KCNH2n.4127C>T
c.3294C>T (p.Ser1098=)
c.2274C>T (p.Ser758=)
c.2994C>T (p.Ser998=)
c.3144C>T (p.Ser1048=)
c.3117C>T (p.Ser1039=)
dbSNP gnomAD v2 gnomAD v4
7g.150946913G>CCA369851990KCNH2n.4127C>G
c.3294C>G (p.Ser1098Arg)
c.2274C>G (p.Ser758Arg)
c.2994C>G (p.Ser998Arg)
c.3144C>G (p.Ser1048Arg)
c.3117C>G (p.Ser1039Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946913G=CA1752427423KCNH2n.4127C=
c.3294C= (p.Ser1098=)
c.2274C= (p.Ser758=)
c.2994C= (p.Ser998=)
c.3144C= (p.Ser1048=)
c.3117C= (p.Ser1039=)
7g.150946913G>TCA369851988KCNH2n.4127C>A
c.3294C>A (p.Ser1098Arg)
c.2274C>A (p.Ser758Arg)
c.2994C>A (p.Ser998Arg)
c.3144C>A (p.Ser1048Arg)
c.3117C>A (p.Ser1039Arg)
gnomAD v4
7g.150946914C>ACA369851991KCNH2n.4126G>T
c.3293G>T (p.Ser1098Ile)
c.2273G>T (p.Ser758Ile)
c.2993G>T (p.Ser998Ile)
c.3143G>T (p.Ser1048Ile)
c.3116G>T (p.Ser1039Ile)
gnomAD v4
7g.150946914C>GCA369851993KCNH2n.4126G>C
c.3293G>C (p.Ser1098Thr)
c.2273G>C (p.Ser758Thr)
c.2993G>C (p.Ser998Thr)
c.3143G>C (p.Ser1048Thr)
c.3116G>C (p.Ser1039Thr)
7g.150946914C>TCA369851995KCNH2n.4126G>A
c.3293G>A (p.Ser1098Asn)
c.2273G>A (p.Ser758Asn)
c.2993G>A (p.Ser998Asn)
c.3143G>A (p.Ser1048Asn)
c.3116G>A (p.Ser1039Asn)
gnomAD v4
7g.150946915T>ACA369851997KCNH2n.4125A>T
c.3292A>T (p.Ser1098Cys)
c.2272A>T (p.Ser758Cys)
c.2992A>T (p.Ser998Cys)
c.3142A>T (p.Ser1048Cys)
c.3115A>T (p.Ser1039Cys)
7g.150946915T>CCA369851998KCNH2n.4125A>G
c.3292A>G (p.Ser1098Gly)
c.2272A>G (p.Ser758Gly)
c.2992A>G (p.Ser998Gly)
c.3142A>G (p.Ser1048Gly)
c.3115A>G (p.Ser1039Gly)
gnomAD v4
7g.150946915T>GCA369852000KCNH2n.4125A>C
c.3292A>C (p.Ser1098Arg)
c.2272A>C (p.Ser758Arg)
c.2992A>C (p.Ser998Arg)
c.3142A>C (p.Ser1048Arg)
c.3115A>C (p.Ser1039Arg)
ClinVar dbSNP
7g.150946915T=CA1752427430KCNH2n.4125A=
c.3292A= (p.Ser1098=)
c.2272A= (p.Ser758=)
c.2992A= (p.Ser998=)
c.3142A= (p.Ser1048=)
c.3115A= (p.Ser1039=)
7g.150946916G>ACA458644664KCNH2n.4124C>T
c.3291C>T (p.Val1097=)
c.2271C>T (p.Val757=)
c.2991C>T (p.Val997=)
c.3141C>T (p.Val1047=)
c.3114C>T (p.Val1038=)
gnomAD v4
7g.150946916G>CCA458644665KCNH2n.4124C>G
c.3291C>G (p.Val1097=)
c.2271C>G (p.Val757=)
c.2991C>G (p.Val997=)
c.3141C>G (p.Val1047=)
c.3114C>G (p.Val1038=)
7g.150946916G=CA1752427435KCNH2n.4124C=
c.3291C= (p.Val1097=)
c.2271C= (p.Val757=)
c.2991C= (p.Val997=)
c.3141C= (p.Val1047=)
c.3114C= (p.Val1038=)
7g.150946916G>TCA458644666KCNH2n.4124C>A
c.3291C>A (p.Val1097=)
c.2271C>A (p.Val757=)
c.2991C>A (p.Val997=)
c.3141C>A (p.Val1047=)
c.3114C>A (p.Val1038=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946917A=CA1752427438KCNH2n.4123T=
c.3290T= (p.Val1097=)
c.2270T= (p.Val757=)
c.2990T= (p.Val997=)
c.3140T= (p.Val1047=)
c.3113T= (p.Val1038=)
7g.150946917A>CCA369852002KCNH2n.4123T>G
c.3290T>G (p.Val1097Gly)
c.2270T>G (p.Val757Gly)
c.2990T>G (p.Val997Gly)
c.3140T>G (p.Val1047Gly)
c.3113T>G (p.Val1038Gly)
7g.150946917A>GCA369852005KCNH2n.4123T>C
c.3290T>C (p.Val1097Ala)
c.2270T>C (p.Val757Ala)
c.2990T>C (p.Val997Ala)
c.3140T>C (p.Val1047Ala)
c.3113T>C (p.Val1038Ala)
dbSNP gnomAD v2 gnomAD v4
7g.150946917A>TCA369852004KCNH2n.4123T>A
c.3290T>A (p.Val1097Asp)
c.2270T>A (p.Val757Asp)
c.2990T>A (p.Val997Asp)
c.3140T>A (p.Val1047Asp)
c.3113T>A (p.Val1038Asp)
7g.150946917_150946918delCA2685600624KCNH2n.4122_4123del
c.3289_3290del (p.Val1097GlnfsTer21)
c.2269_2270del (p.Val757GlnfsTer21)
c.2989_2990del (p.Val997GlnfsTer21)
c.3139_3140del (p.Val1047GlnfsTer21)
c.3112_3113del (p.Val1038GlnfsTer21)
gnomAD v4
7g.150946918C>ACA369852006KCNH2n.4122G>T
c.3289G>T (p.Val1097Phe)
c.2269G>T (p.Val757Phe)
c.2989G>T (p.Val997Phe)
c.3139G>T (p.Val1047Phe)
c.3112G>T (p.Val1038Phe)
gnomAD v4
7g.150946918C=CA1752427444KCNH2n.4122G=
c.3289G= (p.Val1097=)
c.2269G= (p.Val757=)
c.2989G= (p.Val997=)
c.3139G= (p.Val1047=)
c.3112G= (p.Val1038=)
7g.150946918C>GCA369852007KCNH2n.4122G>C
c.3289G>C (p.Val1097Leu)
c.2269G>C (p.Val757Leu)
c.2989G>C (p.Val997Leu)
c.3139G>C (p.Val1047Leu)
c.3112G>C (p.Val1038Leu)
7g.150946918C>TCA008165KCNH2n.4122G>A
c.3289G>A (p.Val1097Ile)
c.2269G>A (p.Val757Ile)
c.2989G>A (p.Val997Ile)
c.3139G>A (p.Val1047Ile)
c.3112G>A (p.Val1038Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150946919G>ACA038260KCNH2n.4121C>T
c.3288C>T (p.Pro1096=)
c.2268C>T (p.Pro756=)
c.2988C>T (p.Pro996=)
c.3138C>T (p.Pro1046=)
c.3111C>T (p.Pro1037=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946919G>CCA458644668KCNH2n.4121C>G
c.3288C>G (p.Pro1096=)
c.2268C>G (p.Pro756=)
c.2988C>G (p.Pro996=)
c.3138C>G (p.Pro1046=)
c.3111C>G (p.Pro1037=)
7g.150946919G=CA1752427450KCNH2n.4121C=
c.3288C= (p.Pro1096=)
c.2268C= (p.Pro756=)
c.2988C= (p.Pro996=)
c.3138C= (p.Pro1046=)
c.3111C= (p.Pro1037=)
7g.150946919G>TCA458644667KCNH2n.4121C>A
c.3288C>A (p.Pro1096=)
c.2268C>A (p.Pro756=)
c.2988C>A (p.Pro996=)
c.3138C>A (p.Pro1046=)
c.3111C>A (p.Pro1037=)
7g.150946920_150946935dupCA2580077682KCNH2n.4106_4121dup
c.3273_3288dup (p.Val1097IlefsTer27)
c.2253_2268dup (p.Val757IlefsTer27)
c.2973_2988dup (p.Val997IlefsTer27)
c.3123_3138dup (p.Val1047IlefsTer27)
c.3096_3111dup (p.Val1038IlefsTer27)
ClinVar
7g.150946920G>ACA369852010KCNH2n.4120C>T
c.3287C>T (p.Pro1096Leu)
c.2267C>T (p.Pro756Leu)
c.2987C>T (p.Pro996Leu)
c.3137C>T (p.Pro1046Leu)
c.3110C>T (p.Pro1037Leu)
gnomAD v4
7g.150946920G>CCA369852012KCNH2n.4120C>G
c.3287C>G (p.Pro1096Arg)
c.2267C>G (p.Pro756Arg)
c.2987C>G (p.Pro996Arg)
c.3137C>G (p.Pro1046Arg)
c.3110C>G (p.Pro1037Arg)
7g.150946920G>TCA369852013KCNH2n.4120C>A
c.3287C>A (p.Pro1096His)
c.2267C>A (p.Pro756His)
c.2987C>A (p.Pro996His)
c.3137C>A (p.Pro1046His)
c.3110C>A (p.Pro1037His)
7g.150946921G>ACA369852015KCNH2n.4119C>T
c.3286C>T (p.Pro1096Ser)
c.2266C>T (p.Pro756Ser)
c.2986C>T (p.Pro996Ser)
c.3136C>T (p.Pro1046Ser)
c.3109C>T (p.Pro1037Ser)
ClinVar dbSNP gnomAD v4
7g.150946921G>CCA369852016KCNH2n.4119C>G
c.3286C>G (p.Pro1096Ala)
c.2266C>G (p.Pro756Ala)
c.2986C>G (p.Pro996Ala)
c.3136C>G (p.Pro1046Ala)
c.3109C>G (p.Pro1037Ala)
7g.150946921G=CA1752427456KCNH2n.4119C=
c.3286C= (p.Pro1096=)
c.2266C= (p.Pro756=)
c.2986C= (p.Pro996=)
c.3136C= (p.Pro1046=)
c.3109C= (p.Pro1037=)
7g.150946921G>TCA369852018KCNH2n.4119C>A
c.3286C>A (p.Pro1096Thr)
c.2266C>A (p.Pro756Thr)
c.2986C>A (p.Pro996Thr)
c.3136C>A (p.Pro1046Thr)
c.3109C>A (p.Pro1037Thr)
ClinVar dbSNP gnomAD v4
7g.150946922C>ACA369852020KCNH2n.4118G>T
c.3285G>T (p.Leu1095Phe)
c.2265G>T (p.Leu755Phe)
c.2985G>T (p.Leu995Phe)
c.3135G>T (p.Leu1045Phe)
c.3108G>T (p.Leu1036Phe)
gnomAD v4
7g.150946922C=CA1752427462KCNH2n.4118G=
c.3285G= (p.Leu1095=)
c.2265G= (p.Leu755=)
c.2985G= (p.Leu995=)
c.3135G= (p.Leu1045=)
c.3108G= (p.Leu1036=)
7g.150946922C>GCA369852021KCNH2n.4118G>C
c.3285G>C (p.Leu1095Phe)
c.2265G>C (p.Leu755Phe)
c.2985G>C (p.Leu995Phe)
c.3135G>C (p.Leu1045Phe)
c.3108G>C (p.Leu1036Phe)
7g.150946922C>TCA458644672KCNH2n.4118G>A
c.3285G>A (p.Leu1095=)
c.2265G>A (p.Leu755=)
c.2985G>A (p.Leu995=)
c.3135G>A (p.Leu1045=)
c.3108G>A (p.Leu1036=)
dbSNP gnomAD v2 gnomAD v4
7g.150946923A>CCA369852026KCNH2n.4117T>G
c.3284T>G (p.Leu1095Trp)
c.2264T>G (p.Leu755Trp)
c.2984T>G (p.Leu995Trp)
c.3134T>G (p.Leu1045Trp)
c.3107T>G (p.Leu1036Trp)
7g.150946923A>GCA369852025KCNH2n.4117T>C
c.3284T>C (p.Leu1095Ser)
c.2264T>C (p.Leu755Ser)
c.2984T>C (p.Leu995Ser)
c.3134T>C (p.Leu1045Ser)
c.3107T>C (p.Leu1036Ser)
7g.150946923A>TCA369852023KCNH2n.4117T>A
c.3284T>A (p.Leu1095Ter)
c.2264T>A (p.Leu755Ter)
c.2984T>A (p.Leu995Ter)
c.3134T>A (p.Leu1045Ter)
c.3107T>A (p.Leu1036Ter)
7g.150946924A>CCA369852029KCNH2n.4116T>G
c.3283T>G (p.Leu1095Val)
c.2263T>G (p.Leu755Val)
c.2983T>G (p.Leu995Val)
c.3133T>G (p.Leu1045Val)
c.3106T>G (p.Leu1036Val)
7g.150946924A>GCA458644673KCNH2n.4116T>C
c.3283T>C (p.Leu1095=)
c.2263T>C (p.Leu755=)
c.2983T>C (p.Leu995=)
c.3133T>C (p.Leu1045=)
c.3106T>C (p.Leu1036=)
7g.150946924A>TCA369852028KCNH2n.4116T>A
c.3283T>A (p.Leu1095Met)
c.2263T>A (p.Leu755Met)
c.2983T>A (p.Leu995Met)
c.3133T>A (p.Leu1045Met)
c.3106T>A (p.Leu1036Met)
7g.150946925C>ACA458644674KCNH2n.4115G>T
c.3282G>T (p.Leu1094=)
c.2262G>T (p.Leu754=)
c.2982G>T (p.Leu994=)
c.3132G>T (p.Leu1044=)
c.3105G>T (p.Leu1035=)
gnomAD v4
7g.150946925C>GCA458644676KCNH2n.4115G>C
c.3282G>C (p.Leu1094=)
c.2262G>C (p.Leu754=)
c.2982G>C (p.Leu994=)
c.3132G>C (p.Leu1044=)
c.3105G>C (p.Leu1035=)
ClinVar dbSNP
7g.150946925C>TCA458644675KCNH2n.4115G>A
c.3282G>A (p.Leu1094=)
c.2262G>A (p.Leu754=)
c.2982G>A (p.Leu994=)
c.3132G>A (p.Leu1044=)
c.3105G>A (p.Leu1035=)

Number of alleles fetched