| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150974815_150974830dup | CA2573141818 | KCNH2 | c.195_210dup (p.Gly71LeufsTer?) c.18_33dup (p.Gly12LeufsTer?) n.418_433dup | ClinVar dbSNP |
| 7 | g.150974811_150974854del | CA2685604706 | KCNH2 | c.165_208del (p.Glu58AlafsTer?) c.-13_31del n.388_431del | gnomAD v4 |
| 7 | g.150974825T>A | CA369865660 | KCNH2 | c.193A>T (p.Thr65Ser) c.16A>T (p.Thr6Ser) n.416A>T | |
| 7 | g.150974825T>C | CA369865663 | KCNH2 | c.193A>G (p.Thr65Ala) c.16A>G (p.Thr6Ala) n.416A>G | dbSNP |
| 7 | g.150974825T>G | CA006061 | KCNH2 | c.193A>C (p.Thr65Pro) c.16A>C (p.Thr6Pro) n.416A>C | ClinVar dbSNP |
| 7 | g.150974825T= | CA1752440883 | KCNH2 | c.193A= (p.Thr65=) c.16A= (p.Thr6=) n.416A= | |
| 7 | g.150974826G>A | CA458871972 | KCNH2 | c.192C>T (p.Cys64=) c.15C>T (p.Cys5=) n.415C>T | |
| 7 | g.150974826G>C | CA006038 | KCNH2 | c.192C>G (p.Cys64Trp) c.15C>G (p.Cys5Trp) n.415C>G | ClinVar dbSNP |
| 7 | g.150974826G= | CA1752440909 | KCNH2 | c.192C= (p.Cys64=) c.15C= (p.Cys5=) n.415C= | |
| 7 | g.150974826G>T | CA369865666 | KCNH2 | c.192C>A (p.Cys64Ter) c.15C>A (p.Cys5Ter) n.415C>A | |
| 7 | g.150974827C>A | CA369865668 | KCNH2 | c.191G>T (p.Cys64Phe) c.14G>T (p.Cys5Phe) n.414G>T | |
| 7 | g.150974827C= | CA1752440913 | KCNH2 | c.191G= (p.Cys64=) c.14G= (p.Cys5=) n.414G= | |
| 7 | g.150974827C>G | CA369865670 | KCNH2 | c.191G>C (p.Cys64Ser) c.14G>C (p.Cys5Ser) n.414G>C | |
| 7 | g.150974827C>T | CA006024 | KCNH2 | c.191G>A (p.Cys64Tyr) c.14G>A (p.Cys5Tyr) n.414G>A | ClinVar dbSNP |
| 7 | g.150974828A>C | CA369865673 | KCNH2 | c.190T>G (p.Cys64Gly) c.13T>G (p.Cys5Gly) n.413T>G | |
| 7 | g.150974828A>G | CA369865676 | KCNH2 | c.190T>C (p.Cys64Arg) c.13T>C (p.Cys5Arg) n.413T>C | |
| 7 | g.150974828A>T | CA369865674 | KCNH2 | c.190T>A (p.Cys64Ser) c.13T>A (p.Cys5Ser) n.413T>A | |
| 7 | g.150974829G>A | CA029708 | KCNH2 | c.189C>T (p.Pro63=) c.12C>T (p.Pro4=) n.412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150974829G>C | CA458871988 | KCNH2 | c.189C>G (p.Pro63=) c.12C>G (p.Pro4=) n.412C>G | |
| 7 | g.150974829G= | CA1752440916 | KCNH2 | c.189C= (p.Pro63=) c.12C= (p.Pro4=) n.412C= | |
| 7 | g.150974829G>T | CA458871986 | KCNH2 | c.189C>A (p.Pro63=) c.12C>A (p.Pro4=) n.412C>A | |
| 7 | g.150974830G>A | CA369865681 | KCNH2 | c.188C>T (p.Pro63Leu) c.11C>T (p.Pro4Leu) n.411C>T | ClinVar dbSNP |
| 7 | g.150974830G>C | CA369865678 | KCNH2 | c.188C>G (p.Pro63Arg) c.11C>G (p.Pro4Arg) n.411C>G | |
| 7 | g.150974830G= | CA1752440920 | KCNH2 | c.188C= (p.Pro63=) c.11C= (p.Pro4=) n.411C= | |
| 7 | g.150974830G>T | CA005881 | KCNH2 | c.188C>A (p.Pro63His) c.11C>A (p.Pro4His) n.411C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150974831G>A | CA369865682 | KCNH2 | c.187C>T (p.Pro63Ser) c.10C>T (p.Pro4Ser) n.410C>T | |
| 7 | g.150974831G>C | CA369865684 | KCNH2 | c.187C>G (p.Pro63Ala) c.10C>G (p.Pro4Ala) n.410C>G | |
| 7 | g.150974831G>T | CA369865686 | KCNH2 | c.187C>A (p.Pro63Thr) c.10C>A (p.Pro4Thr) n.410C>A | |
| 7 | g.150974831_150974832insCT | CA2512906394 | KCNH2 | c.186_187insAG (p.Pro63SerfsTer?) c.9_10insAG (p.Pro4SerfsTer?) n.409_410insAG | |
| 7 | g.150974832T>A | CA458871998 | KCNH2 | c.186A>T (p.Arg62=) c.9A>T (p.Arg3=) n.409A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150974832T>C | CA458871999 | KCNH2 | c.186A>G (p.Arg62=) c.9A>G (p.Arg3=) n.409A>G | ClinVar |
| 7 | g.150974832T>G | CA458872001 | KCNH2 | c.186A>C (p.Arg62=) c.9A>C (p.Arg3=) n.409A>C | |
| 7 | g.150974832T= | CA1752440926 | KCNH2 | c.186A= (p.Arg62=) c.9A= (p.Arg3=) n.409A= | |
| 7 | g.150974833C>A | CA369865688 | KCNH2 | c.185G>T (p.Arg62Leu) c.8G>T (p.Arg3Leu) n.408G>T | |
| 7 | g.150974833C= | CA1752440932 | KCNH2 | c.185G= (p.Arg62=) c.8G= (p.Arg3=) n.408G= | |
| 7 | g.150974833C>G | CA369865690 | KCNH2 | c.185G>C (p.Arg62Pro) c.8G>C (p.Arg3Pro) n.408G>C | |
| 7 | g.150974833C>T | CA005697 | KCNH2 | c.185G>A (p.Arg62Gln) c.8G>A (p.Arg3Gln) n.408G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150974834_150974835del | CA2519673830 | KCNH2 | c.184_185del (p.Arg62ThrfsTer?) c.7_8del (p.Arg3ThrfsTer?) n.407_408del | |
| 7 | g.150974834G>A | CA369865693 | KCNH2 | c.184C>T (p.Arg62Ter) c.7C>T (p.Arg3Ter) n.407C>T | gnomAD v4 |
| 7 | g.150974834G>C | CA369865695 | KCNH2 | c.184C>G (p.Arg62Gly) c.7C>G (p.Arg3Gly) n.407C>G | |
| 7 | g.150974834G= | CA1752440937 | KCNH2 | c.184C= (p.Arg62=) c.7C= (p.Arg3=) n.407C= | |
| 7 | g.150974834G>T | CA458872223 | KCNH2 | c.184C>A (p.Arg62=) c.7C>A (p.Arg3=) n.407C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150974835C>A | CA369865697 | KCNH2 | c.183G>T (p.Gln61His) c.6G>T (p.Gln2His) n.406G>T | |
| 7 | g.150974835C>G | CA369865698 | KCNH2 | c.183G>C (p.Gln61His) c.6G>C (p.Gln2His) n.406G>C | |
| 7 | g.150974835C>T | CA458872227 | KCNH2 | c.183G>A (p.Gln61=) c.6G>A (p.Gln2=) n.406G>A | |
| 7 | g.150974835_150974836delinsAG | CA2695208670 | KCNH2 | c.182_183delinsCT (p.Gln61Pro) c.5_6delinsCT (p.Gln2Pro) n.405_406delinsCT | |
| 7 | g.150974836T>A | CA369865701 | KCNH2 | c.182A>T (p.Gln61Leu) c.5A>T (p.Gln2Leu) n.405A>T | |
| 7 | g.150974836T>C | CA369865705 | KCNH2 | c.182A>G (p.Gln61Arg) c.5A>G (p.Gln2Arg) n.405A>G | |
| 7 | g.150974836T>G | CA369865703 | KCNH2 | c.182A>C (p.Gln61Pro) c.5A>C (p.Gln2Pro) n.405A>C | |
| 7 | g.150974837G>A | CA369865707 | KCNH2 | c.181C>T (p.Gln61Ter) c.4C>T (p.Gln2Ter) n.404C>T | gnomAD v4 |