| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947374_150947376dup | CA579075355 | KCNH2 | n.3938_3940dup c.3105_3107dup (p.Gly1036_Asp1037insGly) c.2085_2087dup (p.Gly696_Asp697insGly) c.2805_2807dup (p.Gly936_Asp937insGly) c.2955_2957dup (p.Gly986_Asp987insGly) c.2928_2930dup (p.Gly977_Asp978insGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947375_150947376dup | CA16042570 | KCNH2 | n.3939_3940dup c.3106_3107dup (p.Asp1037AlafsTer21) c.2086_2087dup (p.Asp697AlafsTer21) c.2806_2807dup (p.Asp937AlafsTer21) c.2956_2957dup (p.Asp987AlafsTer21) c.2929_2930dup (p.Asp978AlafsTer21) | ClinVar dbSNP |
| 7 | g.150947376dup | CA305506 | KCNH2 | n.3940dup c.3107dup (p.Asp1037ArgfsTer?) c.2087dup (p.Asp697ArgfsTer?) c.2807dup (p.Asp937ArgfsTer?) c.2957dup (p.Asp987ArgfsTer?) c.2930dup (p.Asp978ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947376del | CA007951 | KCNH2 | n.3940del c.3107del (p.Gly1036AlafsTer21) c.2087del (p.Gly696AlafsTer21) c.2807del (p.Gly936AlafsTer21) c.2957del (p.Gly986AlafsTer21) c.2930del (p.Gly977AlafsTer21) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947373_150947376dup | CA305337 | KCNH2 | n.3937_3940dup c.3104_3107dup (p.Asp1037GlyfsTer?) c.2084_2087dup (p.Asp697GlyfsTer?) c.2804_2807dup (p.Asp937GlyfsTer?) c.2954_2957dup (p.Asp987GlyfsTer?) c.2927_2930dup (p.Asp978GlyfsTer?) | ClinVar dbSNP |