Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
7 | g.150948376_150948415del | CA2685602405 | KCNH2 | n.3525+33_3525+72del c.2692+33_2692+72del (n.2692+33_2692+72del) c.1672+33_1672+72del (n.1672+33_1672+72del) c.2392+33_2392+72del (n.2392+33_2392+72del) c.2542+33_2542+72del (n.2542+33_2542+72del) c.2515+33_2515+72del (n.2515+33_2515+72del) | gnomAD v4 |
7 | g.150948376_150948431del | CA2685602411 | KCNH2 | n.3525+13_3525+68del c.2692+13_2692+68del (n.2692+13_2692+68del) c.1672+13_1672+68del (n.1672+13_1672+68del) c.2392+13_2392+68del (n.2392+13_2392+68del) c.2542+13_2542+68del (n.2542+13_2542+68del) c.2515+13_2515+68del (n.2515+13_2515+68del) | gnomAD v4 |
7 | g.150948381_150948420del | CA2685602413 | KCNH2 | n.3525+28_3525+67del c.2692+28_2692+67del (n.2692+28_2692+67del) c.1672+28_1672+67del (n.1672+28_1672+67del) c.2392+28_2392+67del (n.2392+28_2392+67del) c.2542+28_2542+67del (n.2542+28_2542+67del) c.2515+28_2515+67del (n.2515+28_2515+67del) | gnomAD v4 |
7 | g.150948381_150948421del | CA2685602414 | KCNH2 | n.3525+27_3525+67del c.2692+27_2692+67del (n.2692+27_2692+67del) c.1672+27_1672+67del (n.1672+27_1672+67del) c.2392+27_2392+67del (n.2392+27_2392+67del) c.2542+27_2542+67del (n.2542+27_2542+67del) c.2515+27_2515+67del (n.2515+27_2515+67del) | gnomAD v4 |
7 | g.150948385_150948440del | CA2685602415 | KCNH2 | n.3525+12_3525+67del c.2692+12_2692+67del (n.2692+12_2692+67del) c.1672+12_1672+67del (n.1672+12_1672+67del) c.2392+12_2392+67del (n.2392+12_2392+67del) c.2542+12_2542+67del (n.2542+12_2542+67del) c.2515+12_2515+67del (n.2515+12_2515+67del) | gnomAD v4 |
7 | g.150948395_150948434del | CA2685602434 | KCNH2 | n.3525+15_3525+54del c.2692+15_2692+54del (n.2692+15_2692+54del) c.1672+15_1672+54del (n.1672+15_1672+54del) c.2392+15_2392+54del (n.2392+15_2392+54del) c.2542+15_2542+54del (n.2542+15_2542+54del) c.2515+15_2515+54del (n.2515+15_2515+54del) | gnomAD v4 |
7 | g.150948395_150948435del | CA2685602438 | KCNH2 | n.3525+12_3525+52del c.2692+12_2692+52del (n.2692+12_2692+52del) c.1672+12_1672+52del (n.1672+12_1672+52del) c.2392+12_2392+52del (n.2392+12_2392+52del) c.2542+12_2542+52del (n.2542+12_2542+52del) c.2515+12_2515+52del (n.2515+12_2515+52del) | gnomAD v4 |
7 | g.150948395_150948436del | CA2685602439 | KCNH2 | n.3525+11_3525+52del c.2692+11_2692+52del (n.2692+11_2692+52del) c.1672+11_1672+52del (n.1672+11_1672+52del) c.2392+11_2392+52del (n.2392+11_2392+52del) c.2542+11_2542+52del (n.2542+11_2542+52del) c.2515+11_2515+52del (n.2515+11_2515+52del) | gnomAD v4 |
7 | g.150948396_150948423delinsGCCTCACCTTGTCCCCGCCCTCCCCCTT | CA1752431060 | KCNH2 | n.3525+21_3525+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC c.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC (n.2692+21_2692+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC) c.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC (n.1672+21_1672+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC) c.2392+21_2392+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC (n.2392+21_2392+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC) c.2542+21_2542+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC (n.2542+21_2542+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC) c.2515+21_2515+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC (n.2515+21_2515+48delinsAAGGGGGAGGGCGGGGACAAGGTGAGGC) | |
7 | g.150948404_150948444del | CA2685602445 | KCNH2 | n.3525+8_3525+48del c.2692+8_2692+48del c.1672+8_1672+48del c.2392+8_2392+48del c.2542+8_2542+48del c.2515+8_2515+48del | gnomAD v4 |
7 | g.150948401_150948427del | CA034378 | KCNH2 | n.3525+21_3525+47del c.2692+21_2692+47del (n.2692+21_2692+47del) c.1672+21_1672+47del (n.1672+21_1672+47del) c.2392+21_2392+47del (n.2392+21_2392+47del) c.2542+21_2542+47del (n.2542+21_2542+47del) c.2515+21_2515+47del (n.2515+21_2515+47del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948404_150948410del | CA2685602457 | KCNH2 | n.3525+36_3525+42del c.2692+36_2692+42del (n.2692+36_2692+42del) c.1672+36_1672+42del (n.1672+36_1672+42del) c.2392+36_2392+42del (n.2392+36_2392+42del) c.2542+36_2542+42del (n.2542+36_2542+42del) c.2515+36_2515+42del (n.2515+36_2515+42del) | gnomAD v4 |
7 | g.150948405_150948431del | CA2685602458 | KCNH2 | n.3525+16_3525+42del c.2692+16_2692+42del (n.2692+16_2692+42del) c.1672+16_1672+42del (n.1672+16_1672+42del) c.2392+16_2392+42del (n.2392+16_2392+42del) c.2542+16_2542+42del (n.2542+16_2542+42del) c.2515+16_2515+42del (n.2515+16_2515+42del) | gnomAD v4 |
7 | g.150948404_150948435del | CA2685602459 | KCNH2 | n.3525+11_3525+42del c.2692+11_2692+42del (n.2692+11_2692+42del) c.1672+11_1672+42del (n.1672+11_1672+42del) c.2392+11_2392+42del (n.2392+11_2392+42del) c.2542+11_2542+42del (n.2542+11_2542+42del) c.2515+11_2515+42del (n.2515+11_2515+42del) | gnomAD v4 |
7 | g.150948410_150948451del | CA2685602460 | KCNH2 | n.3525+1_3525+42del c.2692+1_2692+42del c.1672+1_1672+42del c.2392+1_2392+42del c.2542+1_2542+42del c.2515+1_2515+42del | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCTCCTCCCC | CA2685602472 | KCNH2 | n.3525+37_3525+38insGGAGGGGGGGGGGGGGGGA c.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA (n.2692+37_2692+38insGGAGGGGGGGGGGGGGGGA) c.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA (n.1672+37_1672+38insGGAGGGGGGGGGGGGGGGA) c.2392+37_2392+38insGGAGGGGGGGGGGGGGGGA (n.2392+37_2392+38insGGAGGGGGGGGGGGGGGGA) c.2542+37_2542+38insGGAGGGGGGGGGGGGGGGA (n.2542+37_2542+38insGGAGGGGGGGGGGGGGGGA) c.2515+37_2515+38insGGAGGGGGGGGGGGGGGGA (n.2515+37_2515+38insGGAGGGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948412_150948430del | CA2685602471 | KCNH2 | n.3525+19_3525+37del c.2692+19_2692+37del (n.2692+19_2692+37del) c.1672+19_1672+37del (n.1672+19_1672+37del) c.2392+19_2392+37del (n.2392+19_2392+37del) c.2542+19_2542+37del (n.2542+19_2542+37del) c.2515+19_2515+37del (n.2515+19_2515+37del) | gnomAD v4 |
7 | g.150948408_150948411del | CA2685602482 | KCNH2 | n.3525+33_3525+36del c.2692+33_2692+36del (n.2692+33_2692+36del) c.1672+33_1672+36del (n.1672+33_1672+36del) c.2392+33_2392+36del (n.2392+33_2392+36del) c.2542+33_2542+36del (n.2542+33_2542+36del) c.2515+33_2515+36del (n.2515+33_2515+36del) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCC | CA578701586 | KCNH2 | n.3525+36_3525+37insGGGGGGG c.2692+36_2692+37insGGGGGGG (n.2692+36_2692+37insGGGGGGG) c.1672+36_1672+37insGGGGGGG (n.1672+36_1672+37insGGGGGGG) c.2392+36_2392+37insGGGGGGG (n.2392+36_2392+37insGGGGGGG) c.2542+36_2542+37insGGGGGGG (n.2542+36_2542+37insGGGGGGG) c.2515+36_2515+37insGGGGGGG (n.2515+36_2515+37insGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCC | CA578701582 | KCNH2 | n.3525+36_3525+37insGGGGGGGG c.2692+36_2692+37insGGGGGGGG (n.2692+36_2692+37insGGGGGGGG) c.1672+36_1672+37insGGGGGGGG (n.1672+36_1672+37insGGGGGGGG) c.2392+36_2392+37insGGGGGGGG (n.2392+36_2392+37insGGGGGGGG) c.2542+36_2542+37insGGGGGGGG (n.2542+36_2542+37insGGGGGGGG) c.2515+36_2515+37insGGGGGGGG (n.2515+36_2515+37insGGGGGGGG) | gnomAD v2 gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCC | CA2685602491 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCC | CA2685602492 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCC | CA2685602493 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCC | CA2685602501 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCC | CA2685602494 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCC | CA2685602500 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCTCCCCCCCCC | CA2685602487 | KCNH2 | n.3525+36_3525+37insGGGGGAGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGAGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGAGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGAGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGAGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGAGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGAGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGAGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGAGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGAGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGAGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCC | CA2685602499 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCTTCCCCCCCCCC | CA2685602473 | KCNH2 | n.3525+36_3525+37insGGGGGGAAGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGAAGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGAAGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGAAGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGAAGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGAAGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGAAGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGAAGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGAAGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGAAGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGAAGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCCC | CA2685602498 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCTCCCCCCCCCCCC | CA1108704886 | KCNH2 | n.3525+36_3525+37insGGGGGGGGAGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGAGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGAGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGAGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGAGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGAGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGAGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGAGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGAGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGAGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGAGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCCCC | CA2685602497 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCCCCC | CA578701590 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCCCCCC | CA578701580 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2685602496 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2685602495 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411_150948412insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2685602486 | KCNH2 | n.3525+36_3525+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+36_2692+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+36_1672+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+36_2392+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+36_2542+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+36_2515+37insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948411dup | CA578701584 | KCNH2 | n.3525+36dup c.2692+36dup (n.2692+36dup) c.1672+36dup (n.1672+36dup) c.2392+36dup (n.2392+36dup) c.2542+36dup (n.2542+36dup) c.2515+36dup (n.2515+36dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948410_150948411dup | CA2685602490 | KCNH2 | n.3525+35_3525+36dup c.2692+35_2692+36dup (n.2692+35_2692+36dup) c.1672+35_1672+36dup (n.1672+35_1672+36dup) c.2392+35_2392+36dup (n.2392+35_2392+36dup) c.2542+35_2542+36dup (n.2542+35_2542+36dup) c.2515+35_2515+36dup (n.2515+35_2515+36dup) | gnomAD v4 |
7 | g.150948409_150948411dup | CA2544198269 | KCNH2 | n.3525+34_3525+36dup c.2692+34_2692+36dup (n.2692+34_2692+36dup) c.1672+34_1672+36dup (n.1672+34_1672+36dup) c.2392+34_2392+36dup (n.2392+34_2392+36dup) c.2542+34_2542+36dup (n.2542+34_2542+36dup) c.2515+34_2515+36dup (n.2515+34_2515+36dup) | |
7 | g.150948408_150948411dup | CA1108704887 | KCNH2 | n.3525+33_3525+36dup c.2692+33_2692+36dup (n.2692+33_2692+36dup) c.1672+33_1672+36dup (n.1672+33_1672+36dup) c.2392+33_2392+36dup (n.2392+33_2392+36dup) c.2542+33_2542+36dup (n.2542+33_2542+36dup) c.2515+33_2515+36dup (n.2515+33_2515+36dup) | gnomAD v3 gnomAD v4 |
7 | g.150948411del | CA2685602481 | KCNH2 | n.3525+36del c.2692+36del (n.2692+36del) c.1672+36del (n.1672+36del) c.2392+36del (n.2392+36del) c.2542+36del (n.2542+36del) c.2515+36del (n.2515+36del) | gnomAD v4 |
7 | g.150948408_150948415del | CA2685602483 | KCNH2 | n.3525+29_3525+36del c.2692+29_2692+36del (n.2692+29_2692+36del) c.1672+29_1672+36del (n.1672+29_1672+36del) c.2392+29_2392+36del (n.2392+29_2392+36del) c.2542+29_2542+36del (n.2542+29_2542+36del) c.2515+29_2515+36del (n.2515+29_2515+36del) | gnomAD v4 |
7 | g.150948415_150948439del | CA2685602484 | KCNH2 | n.3525+12_3525+36del c.2692+12_2692+36del (n.2692+12_2692+36del) c.1672+12_1672+36del (n.1672+12_1672+36del) c.2392+12_2392+36del (n.2392+12_2392+36del) c.2542+12_2542+36del (n.2542+12_2542+36del) c.2515+12_2515+36del (n.2515+12_2515+36del) | gnomAD v4 |
7 | g.150948410C>A | CA2685602504 | KCNH2 | n.3525+34G>T c.2692+34G>T (n.2692+34G>T) c.1672+34G>T (n.1672+34G>T) c.2392+34G>T (n.2392+34G>T) c.2542+34G>T (n.2542+34G>T) c.2515+34G>T (n.2515+34G>T) | gnomAD v4 |
7 | g.150948410C>G | CA2685602505 | KCNH2 | n.3525+34G>C c.2692+34G>C (n.2692+34G>C) c.1672+34G>C (n.1672+34G>C) c.2392+34G>C (n.2392+34G>C) c.2542+34G>C (n.2542+34G>C) c.2515+34G>C (n.2515+34G>C) | gnomAD v4 |
7 | g.150948410C>T | CA2685602506 | KCNH2 | n.3525+34G>A c.2692+34G>A (n.2692+34G>A) c.1672+34G>A (n.1672+34G>A) c.2392+34G>A (n.2392+34G>A) c.2542+34G>A (n.2542+34G>A) c.2515+34G>A (n.2515+34G>A) | gnomAD v4 |
7 | g.150948411C>A | CA2685602508 | KCNH2 | n.3525+33G>T c.2692+33G>T (n.2692+33G>T) c.1672+33G>T (n.1672+33G>T) c.2392+33G>T (n.2392+33G>T) c.2542+33G>T (n.2542+33G>T) c.2515+33G>T (n.2515+33G>T) | gnomAD v4 |
7 | g.150948411C= | CA1752431103 | KCNH2 | n.3525+33G= c.2692+33G= (n.2692+33G=) c.1672+33G= (n.1672+33G=) c.2392+33G= (n.2392+33G=) c.2542+33G= (n.2542+33G=) c.2515+33G= (n.2515+33G=) | |
7 | g.150948411C>G | CA2579062557 | KCNH2 | n.3525+33G>C c.2692+33G>C (n.2692+33G>C) c.1672+33G>C (n.1672+33G>C) c.2392+33G>C (n.2392+33G>C) c.2542+33G>C (n.2542+33G>C) c.2515+33G>C (n.2515+33G>C) | gnomAD v4 |
7 | g.150948411C>T | CA034451 | KCNH2 | n.3525+33G>A c.2692+33G>A (n.2692+33G>A) c.1672+33G>A (n.1672+33G>A) c.2392+33G>A (n.2392+33G>A) c.2542+33G>A (n.2542+33G>A) c.2515+33G>A (n.2515+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948411_150948412delinsCG | CA1752431105 | KCNH2 | n.3525+32_3525+33delinsCG c.2692+32_2692+33delinsCG (n.2692+32_2692+33delinsCG) c.1672+32_1672+33delinsCG (n.1672+32_1672+33delinsCG) c.2392+32_2392+33delinsCG (n.2392+32_2392+33delinsCG) c.2542+32_2542+33delinsCG (n.2542+32_2542+33delinsCG) c.2515+32_2515+33delinsCG (n.2515+32_2515+33delinsCG) | |
7 | g.150948412_150948413del | CA2685602507 | KCNH2 | n.3525+32_3525+33del c.2692+32_2692+33del (n.2692+32_2692+33del) c.1672+32_1672+33del (n.1672+32_1672+33del) c.2392+32_2392+33del (n.2392+32_2392+33del) c.2542+32_2542+33del (n.2542+32_2542+33del) c.2515+32_2515+33del (n.2515+32_2515+33del) | gnomAD v4 |
7 | g.150948411_150948426delinsCGCCCTCCCCCTTCCT | CA1752431106 | KCNH2 | n.3525+18_3525+33delinsAGGAAGGGGGAGGGCG c.2692+18_2692+33delinsAGGAAGGGGGAGGGCG (n.2692+18_2692+33delinsAGGAAGGGGGAGGGCG) c.1672+18_1672+33delinsAGGAAGGGGGAGGGCG (n.1672+18_1672+33delinsAGGAAGGGGGAGGGCG) c.2392+18_2392+33delinsAGGAAGGGGGAGGGCG (n.2392+18_2392+33delinsAGGAAGGGGGAGGGCG) c.2542+18_2542+33delinsAGGAAGGGGGAGGGCG (n.2542+18_2542+33delinsAGGAAGGGGGAGGGCG) c.2515+18_2515+33delinsAGGAAGGGGGAGGGCG (n.2515+18_2515+33delinsAGGAAGGGGGAGGGCG) | |
7 | g.150948411_150948412insA | CA2685602510 | KCNH2 | n.3525+32_3525+33insT c.2692+32_2692+33insT (n.2692+32_2692+33insT) c.1672+32_1672+33insT (n.1672+32_1672+33insT) c.2392+32_2392+33insT (n.2392+32_2392+33insT) c.2542+32_2542+33insT (n.2542+32_2542+33insT) c.2515+32_2515+33insT (n.2515+32_2515+33insT) | gnomAD v4 |
7 | g.150948412del | CA578701610 | KCNH2 | n.3525+32del c.2692+32del (n.2692+32del) c.1672+32del (n.1672+32del) c.2392+32del (n.2392+32del) c.2542+32del (n.2542+32del) c.2515+32del (n.2515+32del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948412G>A | CA034440 | KCNH2 | n.3525+32C>T c.2692+32C>T (n.2692+32C>T) c.1672+32C>T (n.1672+32C>T) c.2392+32C>T (n.2392+32C>T) c.2542+32C>T (n.2542+32C>T) c.2515+32C>T (n.2515+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948412G>C | CA034432 | KCNH2 | n.3525+32C>G c.2692+32C>G (n.2692+32C>G) c.1672+32C>G (n.1672+32C>G) c.2392+32C>G (n.2392+32C>G) c.2542+32C>G (n.2542+32C>G) c.2515+32C>G (n.2515+32C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948412G= | CA1752431111 | KCNH2 | n.3525+32C= c.2692+32C= (n.2692+32C=) c.1672+32C= (n.1672+32C=) c.2392+32C= (n.2392+32C=) c.2542+32C= (n.2542+32C=) c.2515+32C= (n.2515+32C=) | |
7 | g.150948412G>T | CA2685602511 | KCNH2 | n.3525+32C>A c.2692+32C>A (n.2692+32C>A) c.1672+32C>A (n.1672+32C>A) c.2392+32C>A (n.2392+32C>A) c.2542+32C>A (n.2542+32C>A) c.2515+32C>A (n.2515+32C>A) | gnomAD v4 |
7 | g.150948412dup | CA2685602509 | KCNH2 | n.3525+32dup c.2692+32dup (n.2692+32dup) c.1672+32dup (n.1672+32dup) c.2392+32dup (n.2392+32dup) c.2542+32dup (n.2542+32dup) c.2515+32dup (n.2515+32dup) | gnomAD v4 |
7 | g.150948412_150948416del | CA578701611 | KCNH2 | n.3525+28_3525+32del c.2692+28_2692+32del (n.2692+28_2692+32del) c.1672+28_1672+32del (n.1672+28_1672+32del) c.2392+28_2392+32del (n.2392+28_2392+32del) c.2542+28_2542+32del (n.2542+28_2542+32del) c.2515+28_2515+32del (n.2515+28_2515+32del) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948412_150948426del | CA578701599 | KCNH2 | n.3525+18_3525+32del c.2692+18_2692+32del (n.2692+18_2692+32del) c.1672+18_1672+32del (n.1672+18_1672+32del) c.2392+18_2392+32del (n.2392+18_2392+32del) c.2542+18_2542+32del (n.2542+18_2542+32del) c.2515+18_2515+32del (n.2515+18_2515+32del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948413C>A | CA2685602516 | KCNH2 | n.3525+31G>T c.2692+31G>T (n.2692+31G>T) c.1672+31G>T (n.1672+31G>T) c.2392+31G>T (n.2392+31G>T) c.2542+31G>T (n.2542+31G>T) c.2515+31G>T (n.2515+31G>T) | gnomAD v4 |
7 | g.150948413C>G | CA2685602517 | KCNH2 | n.3525+31G>C c.2692+31G>C (n.2692+31G>C) c.1672+31G>C (n.1672+31G>C) c.2392+31G>C (n.2392+31G>C) c.2542+31G>C (n.2542+31G>C) c.2515+31G>C (n.2515+31G>C) | gnomAD v4 |
7 | g.150948413C>T | CA578701615 | KCNH2 | n.3525+31G>A c.2692+31G>A (n.2692+31G>A) c.1672+31G>A (n.1672+31G>A) c.2392+31G>A (n.2392+31G>A) c.2542+31G>A (n.2542+31G>A) c.2515+31G>A (n.2515+31G>A) | gnomAD v2 gnomAD v4 |
7 | g.150948415_150948416insCCCCCCC | CA578701619 | KCNH2 | n.3525+31_3525+32insGGGGGGG c.2692+31_2692+32insGGGGGGG (n.2692+31_2692+32insGGGGGGG) c.1672+31_1672+32insGGGGGGG (n.1672+31_1672+32insGGGGGGG) c.2392+31_2392+32insGGGGGGG (n.2392+31_2392+32insGGGGGGG) c.2542+31_2542+32insGGGGGGG (n.2542+31_2542+32insGGGGGGG) c.2515+31_2515+32insGGGGGGG (n.2515+31_2515+32insGGGGGGG) | gnomAD v2 gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCTCCTCCCCCCCCCCCCC | CA1108704903 | KCNH2 | n.3525+31_3525+32insGGGGGGGGGGAGGAGGGGGGGGGG c.2692+31_2692+32insGGGGGGGGGGAGGAGGGGGGGGGG (n.2692+31_2692+32insGGGGGGGGGGAGGAGGGGGGGGGG) c.1672+31_1672+32insGGGGGGGGGGAGGAGGGGGGGGGG (n.1672+31_1672+32insGGGGGGGGGGAGGAGGGGGGGGGG) c.2392+31_2392+32insGGGGGGGGGGAGGAGGGGGGGGGG (n.2392+31_2392+32insGGGGGGGGGGAGGAGGGGGGGGGG) c.2542+31_2542+32insGGGGGGGGGGAGGAGGGGGGGGGG (n.2542+31_2542+32insGGGGGGGGGGAGGAGGGGGGGGGG) c.2515+31_2515+32insGGGGGGGGGGAGGAGGGGGGGGGG (n.2515+31_2515+32insGGGGGGGGGGAGGAGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948415dup | CA578701622 | KCNH2 | n.3525+31dup c.2692+31dup (n.2692+31dup) c.1672+31dup (n.1672+31dup) c.2392+31dup (n.2392+31dup) c.2542+31dup (n.2542+31dup) c.2515+31dup (n.2515+31dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948415del | CA2685602512 | KCNH2 | n.3525+31del c.2692+31del (n.2692+31del) c.1672+31del (n.1672+31del) c.2392+31del (n.2392+31del) c.2542+31del (n.2542+31del) c.2515+31del (n.2515+31del) | gnomAD v4 |
7 | g.150948416_150948434del | CA2685602514 | KCNH2 | n.3525+13_3525+31del c.2692+13_2692+31del (n.2692+13_2692+31del) c.1672+13_1672+31del (n.1672+13_1672+31del) c.2392+13_2392+31del (n.2392+13_2392+31del) c.2542+13_2542+31del (n.2542+13_2542+31del) c.2515+13_2515+31del (n.2515+13_2515+31del) | gnomAD v4 |
7 | g.150948422_150948436del | CA2685602513 | KCNH2 | n.3525+17_3525+31del c.2692+17_2692+31del (n.2692+17_2692+31del) c.1672+17_1672+31del (n.1672+17_1672+31del) c.2392+17_2392+31del (n.2392+17_2392+31del) c.2542+17_2542+31del (n.2542+17_2542+31del) c.2515+17_2515+31del (n.2515+17_2515+31del) | ClinVar gnomAD v4 |
7 | g.150948413_150948446del | CA2685602515 | KCNH2 | n.3523_3525+31del c.2690_2692+31del c.1670_1672+31del c.2390_2392+31del c.2540_2542+31del c.2513_2515+31del | gnomAD v4 |
7 | g.150948413_150948414insG | CA2685602520 | KCNH2 | n.3525+30_3525+31insC c.2692+30_2692+31insC (n.2692+30_2692+31insC) c.1672+30_1672+31insC (n.1672+30_1672+31insC) c.2392+30_2392+31insC (n.2392+30_2392+31insC) c.2542+30_2542+31insC (n.2542+30_2542+31insC) c.2515+30_2515+31insC (n.2515+30_2515+31insC) | gnomAD v4 |
7 | g.150948414C>A | CA2685602519 | KCNH2 | n.3525+30G>T c.2692+30G>T (n.2692+30G>T) c.1672+30G>T (n.1672+30G>T) c.2392+30G>T (n.2392+30G>T) c.2542+30G>T (n.2542+30G>T) c.2515+30G>T (n.2515+30G>T) | gnomAD v4 |
7 | g.150948414C= | CA1752431114 | KCNH2 | n.3525+30G= c.2692+30G= (n.2692+30G=) c.1672+30G= (n.1672+30G=) c.2392+30G= (n.2392+30G=) c.2542+30G= (n.2542+30G=) c.2515+30G= (n.2515+30G=) | |
7 | g.150948414C>T | CA578701640 | KCNH2 | n.3525+30G>A c.2692+30G>A (n.2692+30G>A) c.1672+30G>A (n.1672+30G>A) c.2392+30G>A (n.2392+30G>A) c.2542+30G>A (n.2542+30G>A) c.2515+30G>A (n.2515+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCTCC | CA2685602518 | KCNH2 | n.3525+30_3525+31insAGGGGGGGGG c.2692+30_2692+31insAGGGGGGGGG (n.2692+30_2692+31insAGGGGGGGGG) c.1672+30_1672+31insAGGGGGGGGG (n.1672+30_1672+31insAGGGGGGGGG) c.2392+30_2392+31insAGGGGGGGGG (n.2392+30_2392+31insAGGGGGGGGG) c.2542+30_2542+31insAGGGGGGGGG (n.2542+30_2542+31insAGGGGGGGGG) c.2515+30_2515+31insAGGGGGGGGG (n.2515+30_2515+31insAGGGGGGGGG) | gnomAD v4 |
7 | g.150948416_150948428del | CA578701635 | KCNH2 | n.3525+18_3525+30del c.2692+18_2692+30del (n.2692+18_2692+30del) c.1672+18_1672+30del (n.1672+18_1672+30del) c.2392+18_2392+30del (n.2392+18_2392+30del) c.2542+18_2542+30del (n.2542+18_2542+30del) c.2515+18_2515+30del (n.2515+18_2515+30del) | gnomAD v2 gnomAD v4 |
7 | g.150948415C>A | CA2685602521 | KCNH2 | n.3525+29G>T c.2692+29G>T (n.2692+29G>T) c.1672+29G>T (n.1672+29G>T) c.2392+29G>T (n.2392+29G>T) c.2542+29G>T (n.2542+29G>T) c.2515+29G>T (n.2515+29G>T) | gnomAD v4 |
7 | g.150948415C= | CA1752431119 | KCNH2 | n.3525+29G= c.2692+29G= (n.2692+29G=) c.1672+29G= (n.1672+29G=) c.2392+29G= (n.2392+29G=) c.2542+29G= (n.2542+29G=) c.2515+29G= (n.2515+29G=) | |
7 | g.150948415C>G | CA2685602522 | KCNH2 | n.3525+29G>C c.2692+29G>C (n.2692+29G>C) c.1672+29G>C (n.1672+29G>C) c.2392+29G>C (n.2392+29G>C) c.2542+29G>C (n.2542+29G>C) c.2515+29G>C (n.2515+29G>C) | gnomAD v4 |
7 | g.150948415C>T | CA578701643 | KCNH2 | n.3525+29G>A c.2692+29G>A (n.2692+29G>A) c.1672+29G>A (n.1672+29G>A) c.2392+29G>A (n.2392+29G>A) c.2542+29G>A (n.2542+29G>A) c.2515+29G>A (n.2515+29G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948415_150948416delinsCT | CA1752431118 | KCNH2 | n.3525+28_3525+29delinsAG c.2692+28_2692+29delinsAG (n.2692+28_2692+29delinsAG) c.1672+28_1672+29delinsAG (n.1672+28_1672+29delinsAG) c.2392+28_2392+29delinsAG (n.2392+28_2392+29delinsAG) c.2542+28_2542+29delinsAG (n.2542+28_2542+29delinsAG) c.2515+28_2515+29delinsAG (n.2515+28_2515+29delinsAG) | |
7 | g.150948415_150948416insA | CA2685602537 | KCNH2 | n.3525+28_3525+29insT c.2692+28_2692+29insT (n.2692+28_2692+29insT) c.1672+28_1672+29insT (n.1672+28_1672+29insT) c.2392+28_2392+29insT (n.2392+28_2392+29insT) c.2542+28_2542+29insT (n.2542+28_2542+29insT) c.2515+28_2515+29insT (n.2515+28_2515+29insT) | dbSNP gnomAD v4 |
7 | g.150948415_150948416insG | CA2685602523 | KCNH2 | n.3525+28_3525+29insC c.2692+28_2692+29insC (n.2692+28_2692+29insC) c.1672+28_1672+29insC (n.1672+28_1672+29insC) c.2392+28_2392+29insC (n.2392+28_2392+29insC) c.2542+28_2542+29insC (n.2542+28_2542+29insC) c.2515+28_2515+29insC (n.2515+28_2515+29insC) | gnomAD v4 |
7 | g.150948415_150948416insCA | CA2685602531 | KCNH2 | n.3525+28_3525+29insTG c.2692+28_2692+29insTG (n.2692+28_2692+29insTG) c.1672+28_1672+29insTG (n.1672+28_1672+29insTG) c.2392+28_2392+29insTG (n.2392+28_2392+29insTG) c.2542+28_2542+29insTG (n.2542+28_2542+29insTG) c.2515+28_2515+29insTG (n.2515+28_2515+29insTG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCA | CA2685602534 | KCNH2 | n.3525+28_3525+29insTGGGGGGG c.2692+28_2692+29insTGGGGGGG (n.2692+28_2692+29insTGGGGGGG) c.1672+28_1672+29insTGGGGGGG (n.1672+28_1672+29insTGGGGGGG) c.2392+28_2392+29insTGGGGGGG (n.2392+28_2392+29insTGGGGGGG) c.2542+28_2542+29insTGGGGGGG (n.2542+28_2542+29insTGGGGGGG) c.2515+28_2515+29insTGGGGGGG (n.2515+28_2515+29insTGGGGGGG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCT | CA2685602527 | KCNH2 | n.3525+28_3525+29insAGGGGGGG c.2692+28_2692+29insAGGGGGGG (n.2692+28_2692+29insAGGGGGGG) c.1672+28_1672+29insAGGGGGGG (n.1672+28_1672+29insAGGGGGGG) c.2392+28_2392+29insAGGGGGGG (n.2392+28_2392+29insAGGGGGGG) c.2542+28_2542+29insAGGGGGGG (n.2542+28_2542+29insAGGGGGGG) c.2515+28_2515+29insAGGGGGGG (n.2515+28_2515+29insAGGGGGGG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCAAA | CA2685602535 | KCNH2 | n.3525+28_3525+29insTTTGGGGGGG c.2692+28_2692+29insTTTGGGGGGG (n.2692+28_2692+29insTTTGGGGGGG) c.1672+28_1672+29insTTTGGGGGGG (n.1672+28_1672+29insTTTGGGGGGG) c.2392+28_2392+29insTTTGGGGGGG (n.2392+28_2392+29insTTTGGGGGGG) c.2542+28_2542+29insTTTGGGGGGG (n.2542+28_2542+29insTTTGGGGGGG) c.2515+28_2515+29insTTTGGGGGGG (n.2515+28_2515+29insTTTGGGGGGG) | gnomAD v4 |
7 | g.150948415_150948416insACCCCCCAACA | CA2685602530 | KCNH2 | n.3525+28_3525+29insTGTTGGGGGGT c.2692+28_2692+29insTGTTGGGGGGT (n.2692+28_2692+29insTGTTGGGGGGT) c.1672+28_1672+29insTGTTGGGGGGT (n.1672+28_1672+29insTGTTGGGGGGT) c.2392+28_2392+29insTGTTGGGGGGT (n.2392+28_2392+29insTGTTGGGGGGT) c.2542+28_2542+29insTGTTGGGGGGT (n.2542+28_2542+29insTGTTGGGGGGT) c.2515+28_2515+29insTGTTGGGGGGT (n.2515+28_2515+29insTGTTGGGGGGT) | gnomAD v4 |
7 | g.150948415_150948416insCACCCCCAACA | CA2685602532 | KCNH2 | n.3525+28_3525+29insTGTTGGGGGTG c.2692+28_2692+29insTGTTGGGGGTG (n.2692+28_2692+29insTGTTGGGGGTG) c.1672+28_1672+29insTGTTGGGGGTG (n.1672+28_1672+29insTGTTGGGGGTG) c.2392+28_2392+29insTGTTGGGGGTG (n.2392+28_2392+29insTGTTGGGGGTG) c.2542+28_2542+29insTGTTGGGGGTG (n.2542+28_2542+29insTGTTGGGGGTG) c.2515+28_2515+29insTGTTGGGGGTG (n.2515+28_2515+29insTGTTGGGGGTG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCAACAA | CA2685602533 | KCNH2 | n.3525+28_3525+29insTTGTTGGGGGG c.2692+28_2692+29insTTGTTGGGGGG (n.2692+28_2692+29insTTGTTGGGGGG) c.1672+28_1672+29insTTGTTGGGGGG (n.1672+28_1672+29insTTGTTGGGGGG) c.2392+28_2392+29insTTGTTGGGGGG (n.2392+28_2392+29insTTGTTGGGGGG) c.2542+28_2542+29insTTGTTGGGGGG (n.2542+28_2542+29insTTGTTGGGGGG) c.2515+28_2515+29insTTGTTGGGGGG (n.2515+28_2515+29insTTGTTGGGGGG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCAACA | CA2685602536 | KCNH2 | n.3525+28_3525+29insTGTTGGGGGGG c.2692+28_2692+29insTGTTGGGGGGG (n.2692+28_2692+29insTGTTGGGGGGG) c.1672+28_1672+29insTGTTGGGGGGG (n.1672+28_1672+29insTGTTGGGGGGG) c.2392+28_2392+29insTGTTGGGGGGG (n.2392+28_2392+29insTGTTGGGGGGG) c.2542+28_2542+29insTGTTGGGGGGG (n.2542+28_2542+29insTGTTGGGGGGG) c.2515+28_2515+29insTGTTGGGGGGG (n.2515+28_2515+29insTGTTGGGGGGG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCAGCA | CA2685602528 | KCNH2 | n.3525+28_3525+29insTGCTGGGGGGG c.2692+28_2692+29insTGCTGGGGGGG (n.2692+28_2692+29insTGCTGGGGGGG) c.1672+28_1672+29insTGCTGGGGGGG (n.1672+28_1672+29insTGCTGGGGGGG) c.2392+28_2392+29insTGCTGGGGGGG (n.2392+28_2392+29insTGCTGGGGGGG) c.2542+28_2542+29insTGCTGGGGGGG (n.2542+28_2542+29insTGCTGGGGGGG) c.2515+28_2515+29insTGCTGGGGGGG (n.2515+28_2515+29insTGCTGGGGGGG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCTTCCCCCCCCCCCCCCCCCCCCCCTT | CA578701651 | KCNH2 | n.3525+28_3525+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG c.2692+28_2692+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG (n.2692+28_2692+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG) c.1672+28_1672+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG (n.1672+28_1672+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG) c.2392+28_2392+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG (n.2392+28_2392+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG) c.2542+28_2542+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG (n.2542+28_2542+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG) c.2515+28_2515+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG (n.2515+28_2515+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG) | gnomAD v2 |
7 | g.150948415_150948416insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTT | CA2685602529 | KCNH2 | n.3525+28_3525+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.2692+28_2692+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+28_2692+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+28_1672+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+28_1672+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+28_2392+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+28_2392+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+28_2542+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+28_2542+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+28_2515+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+28_2515+29insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948415_150948416insCCCCCCCTTCCCCCCCCCCCCCCCCCCCCCCTT | CA2685602526 | KCNH2 | n.3525+28_3525+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG c.2692+28_2692+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG (n.2692+28_2692+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG) c.1672+28_1672+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG (n.1672+28_1672+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG) c.2392+28_2392+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG (n.2392+28_2392+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG) c.2542+28_2542+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG (n.2542+28_2542+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG) c.2515+28_2515+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG (n.2515+28_2515+29insAAGGGGGGGGGGGGGGGGGGGGGGAAGGGGGGG) | gnomAD v4 |
7 | g.150948416del | CA578701648 | KCNH2 | n.3525+28del c.2692+28del (n.2692+28del) c.1672+28del (n.1672+28del) c.2392+28del (n.2392+28del) c.2542+28del (n.2542+28del) c.2515+28del (n.2515+28del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948416T>A | CA1108704905 | KCNH2 | n.3525+28A>T c.2692+28A>T (n.2692+28A>T) c.1672+28A>T (n.1672+28A>T) c.2392+28A>T (n.2392+28A>T) c.2542+28A>T (n.2542+28A>T) c.2515+28A>T (n.2515+28A>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948416T>C | CA034425 | KCNH2 | n.3525+28A>G c.2692+28A>G (n.2692+28A>G) c.1672+28A>G (n.1672+28A>G) c.2392+28A>G (n.2392+28A>G) c.2542+28A>G (n.2542+28A>G) c.2515+28A>G (n.2515+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948416T>G | CA2685602524 | KCNH2 | n.3525+28A>C c.2692+28A>C (n.2692+28A>C) c.1672+28A>C (n.1672+28A>C) c.2392+28A>C (n.2392+28A>C) c.2542+28A>C (n.2542+28A>C) c.2515+28A>C (n.2515+28A>C) | gnomAD v4 |
7 | g.150948416T= | CA1752431124 | KCNH2 | n.3525+28A= c.2692+28A= (n.2692+28A=) c.1672+28A= (n.1672+28A=) c.2392+28A= (n.2392+28A=) c.2542+28A= (n.2542+28A=) c.2515+28A= (n.2515+28A=) | |
7 | g.150948416_150948440del | CA2685602525 | KCNH2 | n.3525+4_3525+28del c.2692+4_2692+28del (n.2692+4_2692+28del) c.1672+4_1672+28del (n.1672+4_1672+28del) c.2392+4_2392+28del (n.2392+4_2392+28del) c.2542+4_2542+28del (n.2542+4_2542+28del) c.2515+4_2515+28del (n.2515+4_2515+28del) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCC | CA2685602549 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCC | CA2685602548 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCCC | CA2685602547 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCCCC | CA2685602546 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCCCCC | CA2685602545 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCCCCCC | CA2685602544 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCCCCCCC | CA2685602543 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCCCCCCCC | CA2685602542 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948416_150948417insTCCCCCCCCCCCCCCCCCCC | CA2685602541 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGGGGA c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGA (n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGA) c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGA (n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGA) c.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGA (n.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGA) c.2542+27_2542+28insGGGGGGGGGGGGGGGGGGGA (n.2542+27_2542+28insGGGGGGGGGGGGGGGGGGGA) c.2515+27_2515+28insGGGGGGGGGGGGGGGGGGGA (n.2515+27_2515+28insGGGGGGGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948417C>A | CA2685602539 | KCNH2 | n.3525+27G>T c.2692+27G>T (n.2692+27G>T) c.1672+27G>T (n.1672+27G>T) c.2392+27G>T (n.2392+27G>T) c.2542+27G>T (n.2542+27G>T) c.2515+27G>T (n.2515+27G>T) | gnomAD v4 |
7 | g.150948417C= | CA1752431129 | KCNH2 | n.3525+27G= c.2692+27G= (n.2692+27G=) c.1672+27G= (n.1672+27G=) c.2392+27G= (n.2392+27G=) c.2542+27G= (n.2542+27G=) c.2515+27G= (n.2515+27G=) | |
7 | g.150948417C>G | CA2685602538 | KCNH2 | n.3525+27G>C c.2692+27G>C (n.2692+27G>C) c.1672+27G>C (n.1672+27G>C) c.2392+27G>C (n.2392+27G>C) c.2542+27G>C (n.2542+27G>C) c.2515+27G>C (n.2515+27G>C) | gnomAD v4 |
7 | g.150948417C>T | CA578701657 | KCNH2 | n.3525+27G>A c.2692+27G>A (n.2692+27G>A) c.1672+27G>A (n.1672+27G>A) c.2392+27G>A (n.2392+27G>A) c.2542+27G>A (n.2542+27G>A) c.2515+27G>A (n.2515+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948418_150948419insTCCCCCCCCCCCCCCCC | CA2685602552 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGAGG c.2692+27_2692+28insGGGGGGGGGGGGGGAGG (n.2692+27_2692+28insGGGGGGGGGGGGGGAGG) c.1672+27_1672+28insGGGGGGGGGGGGGGAGG (n.1672+27_1672+28insGGGGGGGGGGGGGGAGG) c.2392+27_2392+28insGGGGGGGGGGGGGGAGG (n.2392+27_2392+28insGGGGGGGGGGGGGGAGG) c.2542+27_2542+28insGGGGGGGGGGGGGGAGG (n.2542+27_2542+28insGGGGGGGGGGGGGGAGG) c.2515+27_2515+28insGGGGGGGGGGGGGGAGG (n.2515+27_2515+28insGGGGGGGGGGGGGGAGG) | gnomAD v4 |
7 | g.150948418_150948419insTCCCCCCCCCCCCCCCCC | CA2685602551 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGAGG c.2692+27_2692+28insGGGGGGGGGGGGGGGAGG (n.2692+27_2692+28insGGGGGGGGGGGGGGGAGG) c.1672+27_1672+28insGGGGGGGGGGGGGGGAGG (n.1672+27_1672+28insGGGGGGGGGGGGGGGAGG) c.2392+27_2392+28insGGGGGGGGGGGGGGGAGG (n.2392+27_2392+28insGGGGGGGGGGGGGGGAGG) c.2542+27_2542+28insGGGGGGGGGGGGGGGAGG (n.2542+27_2542+28insGGGGGGGGGGGGGGGAGG) c.2515+27_2515+28insGGGGGGGGGGGGGGGAGG (n.2515+27_2515+28insGGGGGGGGGGGGGGGAGG) | gnomAD v4 |
7 | g.150948418_150948419insTCCCCCCCCCCCCCCCCCCCC | CA578701656 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGGGAGG c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGAGG (n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGAGG) c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGAGG (n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGAGG) c.2392+27_2392+28insGGGGGGGGGGGGGGGGGGAGG (n.2392+27_2392+28insGGGGGGGGGGGGGGGGGGAGG) c.2542+27_2542+28insGGGGGGGGGGGGGGGGGGAGG (n.2542+27_2542+28insGGGGGGGGGGGGGGGGGGAGG) c.2515+27_2515+28insGGGGGGGGGGGGGGGGGGAGG (n.2515+27_2515+28insGGGGGGGGGGGGGGGGGGAGG) | gnomAD v2 |
7 | g.150948418_150948419insTCCCCCCCCCCCCCCCCCCCCC | CA2685602550 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGGGGAGG c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG (n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGGAGG) c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG (n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGGAGG) c.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGAGG (n.2392+27_2392+28insGGGGGGGGGGGGGGGGGGGAGG) c.2542+27_2542+28insGGGGGGGGGGGGGGGGGGGAGG (n.2542+27_2542+28insGGGGGGGGGGGGGGGGGGGAGG) c.2515+27_2515+28insGGGGGGGGGGGGGGGGGGGAGG (n.2515+27_2515+28insGGGGGGGGGGGGGGGGGGGAGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCC | CA2685602559 | KCNH2 | n.3525+27_3525+28insGGGGGGGGG c.2692+27_2692+28insGGGGGGGGG (n.2692+27_2692+28insGGGGGGGGG) c.1672+27_1672+28insGGGGGGGGG (n.1672+27_1672+28insGGGGGGGGG) c.2392+27_2392+28insGGGGGGGGG (n.2392+27_2392+28insGGGGGGGGG) c.2542+27_2542+28insGGGGGGGGG (n.2542+27_2542+28insGGGGGGGGG) c.2515+27_2515+28insGGGGGGGGG (n.2515+27_2515+28insGGGGGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCC | CA2778425257 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGG c.2692+27_2692+28insGGGGGGGGGGG (n.2692+27_2692+28insGGGGGGGGGGG) c.1672+27_1672+28insGGGGGGGGGGG (n.1672+27_1672+28insGGGGGGGGGGG) c.2392+27_2392+28insGGGGGGGGGGG (n.2392+27_2392+28insGGGGGGGGGGG) c.2542+27_2542+28insGGGGGGGGGGG (n.2542+27_2542+28insGGGGGGGGGGG) c.2515+27_2515+28insGGGGGGGGGGG (n.2515+27_2515+28insGGGGGGGGGGG) | |
7 | g.150948421_150948422insCCCCCCCCCCCCCC | CA2685602558 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGG c.2692+27_2692+28insGGGGGGGGGGGGGG (n.2692+27_2692+28insGGGGGGGGGGGGGG) c.1672+27_1672+28insGGGGGGGGGGGGGG (n.1672+27_1672+28insGGGGGGGGGGGGGG) c.2392+27_2392+28insGGGGGGGGGGGGGG (n.2392+27_2392+28insGGGGGGGGGGGGGG) c.2542+27_2542+28insGGGGGGGGGGGGGG (n.2542+27_2542+28insGGGGGGGGGGGGGG) c.2515+27_2515+28insGGGGGGGGGGGGGG (n.2515+27_2515+28insGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCCCCCC | CA2685602557 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGG c.2692+27_2692+28insGGGGGGGGGGGGGGG (n.2692+27_2692+28insGGGGGGGGGGGGGGG) c.1672+27_1672+28insGGGGGGGGGGGGGGG (n.1672+27_1672+28insGGGGGGGGGGGGGGG) c.2392+27_2392+28insGGGGGGGGGGGGGGG (n.2392+27_2392+28insGGGGGGGGGGGGGGG) c.2542+27_2542+28insGGGGGGGGGGGGGGG (n.2542+27_2542+28insGGGGGGGGGGGGGGG) c.2515+27_2515+28insGGGGGGGGGGGGGGG (n.2515+27_2515+28insGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCCCCCCCC | CA2685602556 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGG c.2692+27_2692+28insGGGGGGGGGGGGGGGGG (n.2692+27_2692+28insGGGGGGGGGGGGGGGGG) c.1672+27_1672+28insGGGGGGGGGGGGGGGGG (n.1672+27_1672+28insGGGGGGGGGGGGGGGGG) c.2392+27_2392+28insGGGGGGGGGGGGGGGGG (n.2392+27_2392+28insGGGGGGGGGGGGGGGGG) c.2542+27_2542+28insGGGGGGGGGGGGGGGGG (n.2542+27_2542+28insGGGGGGGGGGGGGGGGG) c.2515+27_2515+28insGGGGGGGGGGGGGGGGG (n.2515+27_2515+28insGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCCCCCCCCC | CA2685602555 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGGG c.2692+27_2692+28insGGGGGGGGGGGGGGGGGG (n.2692+27_2692+28insGGGGGGGGGGGGGGGGGG) c.1672+27_1672+28insGGGGGGGGGGGGGGGGGG (n.1672+27_1672+28insGGGGGGGGGGGGGGGGGG) c.2392+27_2392+28insGGGGGGGGGGGGGGGGGG (n.2392+27_2392+28insGGGGGGGGGGGGGGGGGG) c.2542+27_2542+28insGGGGGGGGGGGGGGGGGG (n.2542+27_2542+28insGGGGGGGGGGGGGGGGGG) c.2515+27_2515+28insGGGGGGGGGGGGGGGGGG (n.2515+27_2515+28insGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCCCCCCCCCC | CA2685602554 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGGGG c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGG (n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGG) c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGG (n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGG) c.2392+27_2392+28insGGGGGGGGGGGGGGGGGGG (n.2392+27_2392+28insGGGGGGGGGGGGGGGGGGG) c.2542+27_2542+28insGGGGGGGGGGGGGGGGGGG (n.2542+27_2542+28insGGGGGGGGGGGGGGGGGGG) c.2515+27_2515+28insGGGGGGGGGGGGGGGGGGG (n.2515+27_2515+28insGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCTCCCCCCCCCCCCCCCCCCCCCCC | CA2685602553 | KCNH2 | n.3525+27_3525+28insGGGGGGGGGGGGGGGGGGAGGGGGG c.2692+27_2692+28insGGGGGGGGGGGGGGGGGGAGGGGGG (n.2692+27_2692+28insGGGGGGGGGGGGGGGGGGAGGGGGG) c.1672+27_1672+28insGGGGGGGGGGGGGGGGGGAGGGGGG (n.1672+27_1672+28insGGGGGGGGGGGGGGGGGGAGGGGGG) c.2392+27_2392+28insGGGGGGGGGGGGGGGGGGAGGGGGG (n.2392+27_2392+28insGGGGGGGGGGGGGGGGGGAGGGGGG) c.2542+27_2542+28insGGGGGGGGGGGGGGGGGGAGGGGGG (n.2542+27_2542+28insGGGGGGGGGGGGGGGGGGAGGGGGG) c.2515+27_2515+28insGGGGGGGGGGGGGGGGGGAGGGGGG (n.2515+27_2515+28insGGGGGGGGGGGGGGGGGGAGGGGGG) | gnomAD v4 |
7 | g.150948421dup | CA2685602560 | KCNH2 | n.3525+27dup c.2692+27dup (n.2692+27dup) c.1672+27dup (n.1672+27dup) c.2392+27dup (n.2392+27dup) c.2542+27dup (n.2542+27dup) c.2515+27dup (n.2515+27dup) | gnomAD v4 |
7 | g.150948421del | CA2685602540 | KCNH2 | n.3525+27del c.2692+27del (n.2692+27del) c.1672+27del (n.1672+27del) c.2392+27del (n.2392+27del) c.2542+27del (n.2542+27del) c.2515+27del (n.2515+27del) | gnomAD v4 |
7 | g.150948417_150948418insA | CA2685602565 | KCNH2 | n.3525+26_3525+27insT c.2692+26_2692+27insT (n.2692+26_2692+27insT) c.1672+26_1672+27insT (n.1672+26_1672+27insT) c.2392+26_2392+27insT (n.2392+26_2392+27insT) c.2542+26_2542+27insT (n.2542+26_2542+27insT) c.2515+26_2515+27insT (n.2515+26_2515+27insT) | gnomAD v4 |
7 | g.150948418C>A | CA2685602562 | KCNH2 | n.3525+26G>T c.2692+26G>T (n.2692+26G>T) c.1672+26G>T (n.1672+26G>T) c.2392+26G>T (n.2392+26G>T) c.2542+26G>T (n.2542+26G>T) c.2515+26G>T (n.2515+26G>T) | gnomAD v4 |
7 | g.150948418C= | CA1752431132 | KCNH2 | n.3525+26G= c.2692+26G= (n.2692+26G=) c.1672+26G= (n.1672+26G=) c.2392+26G= (n.2392+26G=) c.2542+26G= (n.2542+26G=) c.2515+26G= (n.2515+26G=) | |
7 | g.150948418C>G | CA2685602561 | KCNH2 | n.3525+26G>C c.2692+26G>C (n.2692+26G>C) c.1672+26G>C (n.1672+26G>C) c.2392+26G>C (n.2392+26G>C) c.2542+26G>C (n.2542+26G>C) c.2515+26G>C (n.2515+26G>C) | gnomAD v4 |
7 | g.150948418C>T | CA578701661 | KCNH2 | n.3525+26G>A c.2692+26G>A (n.2692+26G>A) c.1672+26G>A (n.1672+26G>A) c.2392+26G>A (n.2392+26G>A) c.2542+26G>A (n.2542+26G>A) c.2515+26G>A (n.2515+26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948421_150948422insAACAACCCC | CA2685602564 | KCNH2 | n.3525+26_3525+27insTTGTTGGGG c.2692+26_2692+27insTTGTTGGGG (n.2692+26_2692+27insTTGTTGGGG) c.1672+26_1672+27insTTGTTGGGG (n.1672+26_1672+27insTTGTTGGGG) c.2392+26_2392+27insTTGTTGGGG (n.2392+26_2392+27insTTGTTGGGG) c.2542+26_2542+27insTTGTTGGGG (n.2542+26_2542+27insTTGTTGGGG) c.2515+26_2515+27insTTGTTGGGG (n.2515+26_2515+27insTTGTTGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCAACAACCCC | CA2685602563 | KCNH2 | n.3525+26_3525+27insTTGTTGGGGG c.2692+26_2692+27insTTGTTGGGGG (n.2692+26_2692+27insTTGTTGGGGG) c.1672+26_1672+27insTTGTTGGGGG (n.1672+26_1672+27insTTGTTGGGGG) c.2392+26_2392+27insTTGTTGGGGG (n.2392+26_2392+27insTTGTTGGGGG) c.2542+26_2542+27insTTGTTGGGGG (n.2542+26_2542+27insTTGTTGGGGG) c.2515+26_2515+27insTTGTTGGGGG (n.2515+26_2515+27insTTGTTGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCCCCCCCCCTTCCCC | CA2685602566 | KCNH2 | n.3525+26_3525+27insAAGGGGGGGGGGGGGGGGGGGGGG c.2692+26_2692+27insAAGGGGGGGGGGGGGGGGGGGGGG (n.2692+26_2692+27insAAGGGGGGGGGGGGGGGGGGGGGG) c.1672+26_1672+27insAAGGGGGGGGGGGGGGGGGGGGGG (n.1672+26_1672+27insAAGGGGGGGGGGGGGGGGGGGGGG) c.2392+26_2392+27insAAGGGGGGGGGGGGGGGGGGGGGG (n.2392+26_2392+27insAAGGGGGGGGGGGGGGGGGGGGGG) c.2542+26_2542+27insAAGGGGGGGGGGGGGGGGGGGGGG (n.2542+26_2542+27insAAGGGGGGGGGGGGGGGGGGGGGG) c.2515+26_2515+27insAAGGGGGGGGGGGGGGGGGGGGGG (n.2515+26_2515+27insAAGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948423_150948431dup | CA169073076 | KCNH2 | n.3525+18_3525+26dup c.2692+18_2692+26dup (n.2692+18_2692+26dup) c.1672+18_1672+26dup (n.1672+18_1672+26dup) c.2392+18_2392+26dup (n.2392+18_2392+26dup) c.2542+18_2542+26dup (n.2542+18_2542+26dup) c.2515+18_2515+26dup (n.2515+18_2515+26dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948419C>A | CA2685602570 | KCNH2 | n.3525+25G>T c.2692+25G>T (n.2692+25G>T) c.1672+25G>T (n.1672+25G>T) c.2392+25G>T (n.2392+25G>T) c.2542+25G>T (n.2542+25G>T) c.2515+25G>T (n.2515+25G>T) | gnomAD v4 |
7 | g.150948419C= | CA1752431137 | KCNH2 | n.3525+25G= c.2692+25G= (n.2692+25G=) c.1672+25G= (n.1672+25G=) c.2392+25G= (n.2392+25G=) c.2542+25G= (n.2542+25G=) c.2515+25G= (n.2515+25G=) | |
7 | g.150948419C>T | CA1108704906 | KCNH2 | n.3525+25G>A c.2692+25G>A (n.2692+25G>A) c.1672+25G>A (n.1672+25G>A) c.2392+25G>A (n.2392+25G>A) c.2542+25G>A (n.2542+25G>A) c.2515+25G>A (n.2515+25G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948421_150948422insCAAAAACCC | CA2685602567 | KCNH2 | n.3525+25_3525+26insTTTTTGGGG c.2692+25_2692+26insTTTTTGGGG (n.2692+25_2692+26insTTTTTGGGG) c.1672+25_1672+26insTTTTTGGGG (n.1672+25_1672+26insTTTTTGGGG) c.2392+25_2392+26insTTTTTGGGG (n.2392+25_2392+26insTTTTTGGGG) c.2542+25_2542+26insTTTTTGGGG (n.2542+25_2542+26insTTTTTGGGG) c.2515+25_2515+26insTTTTTGGGG (n.2515+25_2515+26insTTTTTGGGG) | gnomAD v4 |
7 | g.150948419_150948426delinsCCCTTCCT | CA1752431135 | KCNH2 | n.3525+18_3525+25delinsAGGAAGGG c.2692+18_2692+25delinsAGGAAGGG (n.2692+18_2692+25delinsAGGAAGGG) c.1672+18_1672+25delinsAGGAAGGG (n.1672+18_1672+25delinsAGGAAGGG) c.2392+18_2392+25delinsAGGAAGGG (n.2392+18_2392+25delinsAGGAAGGG) c.2542+18_2542+25delinsAGGAAGGG (n.2542+18_2542+25delinsAGGAAGGG) c.2515+18_2515+25delinsAGGAAGGG (n.2515+18_2515+25delinsAGGAAGGG) | |
7 | g.150948422_150948429del | CA2685602568 | KCNH2 | n.3525+18_3525+25del c.2692+18_2692+25del (n.2692+18_2692+25del) c.1672+18_1672+25del (n.1672+18_1672+25del) c.2392+18_2392+25del (n.2392+18_2392+25del) c.2542+18_2542+25del (n.2542+18_2542+25del) c.2515+18_2515+25del (n.2515+18_2515+25del) | gnomAD v4 |
7 | g.150948424_150948447dup | CA2580077774 | KCNH2 | n.3525+2_3525+25dup c.2692+2_2692+25dup c.1672+2_1672+25dup c.2392+2_2392+25dup c.2542+2_2542+25dup c.2515+2_2515+25dup | ClinVar |
7 | g.150948424_150948447del | CA2685602569 | KCNH2 | n.3525+2_3525+25del c.2692+2_2692+25del c.1672+2_1672+25del c.2392+2_2392+25del c.2542+2_2542+25del c.2515+2_2515+25del | gnomAD v4 |
7 | g.150948420C>A | CA034408 | KCNH2 | n.3525+24G>T c.2692+24G>T (n.2692+24G>T) c.1672+24G>T (n.1672+24G>T) c.2392+24G>T (n.2392+24G>T) c.2542+24G>T (n.2542+24G>T) c.2515+24G>T (n.2515+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948420C= | CA1752431138 | KCNH2 | n.3525+24G= c.2692+24G= (n.2692+24G=) c.1672+24G= (n.1672+24G=) c.2392+24G= (n.2392+24G=) c.2542+24G= (n.2542+24G=) c.2515+24G= (n.2515+24G=) | |
7 | g.150948420C>G | CA2685602572 | KCNH2 | n.3525+24G>C c.2692+24G>C (n.2692+24G>C) c.1672+24G>C (n.1672+24G>C) c.2392+24G>C (n.2392+24G>C) c.2542+24G>C (n.2542+24G>C) c.2515+24G>C (n.2515+24G>C) | gnomAD v4 |
7 | g.150948420C>T | CA2685602573 | KCNH2 | n.3525+24G>A c.2692+24G>A (n.2692+24G>A) c.1672+24G>A (n.1672+24G>A) c.2392+24G>A (n.2392+24G>A) c.2542+24G>A (n.2542+24G>A) c.2515+24G>A (n.2515+24G>A) | gnomAD v4 |
7 | g.150948421_150948422insCAACC | CA2685602581 | KCNH2 | n.3525+24_3525+25insTTGGG c.2692+24_2692+25insTTGGG (n.2692+24_2692+25insTTGGG) c.1672+24_1672+25insTTGGG (n.1672+24_1672+25insTTGGG) c.2392+24_2392+25insTTGGG (n.2392+24_2392+25insTTGGG) c.2542+24_2542+25insTTGGG (n.2542+24_2542+25insTTGGG) c.2515+24_2515+25insTTGGG (n.2515+24_2515+25insTTGGG) | gnomAD v4 |
7 | g.150948421_150948422insCGACC | CA2685602571 | KCNH2 | n.3525+24_3525+25insTCGGG c.2692+24_2692+25insTCGGG (n.2692+24_2692+25insTCGGG) c.1672+24_1672+25insTCGGG (n.1672+24_1672+25insTCGGG) c.2392+24_2392+25insTCGGG (n.2392+24_2392+25insTCGGG) c.2542+24_2542+25insTCGGG (n.2542+24_2542+25insTCGGG) c.2515+24_2515+25insTCGGG (n.2515+24_2515+25insTCGGG) | gnomAD v4 |
7 | g.150948421_150948422insCTTCC | CA2685602575 | KCNH2 | n.3525+24_3525+25insAAGGG c.2692+24_2692+25insAAGGG (n.2692+24_2692+25insAAGGG) c.1672+24_1672+25insAAGGG (n.1672+24_1672+25insAAGGG) c.2392+24_2392+25insAAGGG (n.2392+24_2392+25insAAGGG) c.2542+24_2542+25insAAGGG (n.2542+24_2542+25insAAGGG) c.2515+24_2515+25insAAGGG (n.2515+24_2515+25insAAGGG) | gnomAD v4 |
7 | g.150948421_150948422insAAAAACC | CA2685602584 | KCNH2 | n.3525+24_3525+25insTTTTTGG c.2692+24_2692+25insTTTTTGG (n.2692+24_2692+25insTTTTTGG) c.1672+24_1672+25insTTTTTGG (n.1672+24_1672+25insTTTTTGG) c.2392+24_2392+25insTTTTTGG (n.2392+24_2392+25insTTTTTGG) c.2542+24_2542+25insTTTTTGG (n.2542+24_2542+25insTTTTTGG) c.2515+24_2515+25insTTTTTGG (n.2515+24_2515+25insTTTTTGG) | gnomAD v4 |
7 | g.150948421_150948422insAACAACC | CA2685602583 | KCNH2 | n.3525+24_3525+25insTTGTTGG c.2692+24_2692+25insTTGTTGG (n.2692+24_2692+25insTTGTTGG) c.1672+24_1672+25insTTGTTGG (n.1672+24_1672+25insTTGTTGG) c.2392+24_2392+25insTTGTTGG (n.2392+24_2392+25insTTGTTGG) c.2542+24_2542+25insTTGTTGG (n.2542+24_2542+25insTTGTTGG) c.2515+24_2515+25insTTGTTGG (n.2515+24_2515+25insTTGTTGG) | gnomAD v4 |
7 | g.150948421_150948422insACAAACC | CA2685602582 | KCNH2 | n.3525+24_3525+25insTTTGTGG c.2692+24_2692+25insTTTGTGG (n.2692+24_2692+25insTTTGTGG) c.1672+24_1672+25insTTTGTGG (n.1672+24_1672+25insTTTGTGG) c.2392+24_2392+25insTTTGTGG (n.2392+24_2392+25insTTTGTGG) c.2542+24_2542+25insTTTGTGG (n.2542+24_2542+25insTTTGTGG) c.2515+24_2515+25insTTTGTGG (n.2515+24_2515+25insTTTGTGG) | gnomAD v4 |
7 | g.150948421_150948422insCAAACACC | CA2685602580 | KCNH2 | n.3525+24_3525+25insTGTTTGGG c.2692+24_2692+25insTGTTTGGG (n.2692+24_2692+25insTGTTTGGG) c.1672+24_1672+25insTGTTTGGG (n.1672+24_1672+25insTGTTTGGG) c.2392+24_2392+25insTGTTTGGG (n.2392+24_2392+25insTGTTTGGG) c.2542+24_2542+25insTGTTTGGG (n.2542+24_2542+25insTGTTTGGG) c.2515+24_2515+25insTGTTTGGG (n.2515+24_2515+25insTGTTTGGG) | gnomAD v4 |
7 | g.150948421_150948422insCAACAACC | CA2685602579 | KCNH2 | n.3525+24_3525+25insTTGTTGGG c.2692+24_2692+25insTTGTTGGG (n.2692+24_2692+25insTTGTTGGG) c.1672+24_1672+25insTTGTTGGG (n.1672+24_1672+25insTTGTTGGG) c.2392+24_2392+25insTTGTTGGG (n.2392+24_2392+25insTTGTTGGG) c.2542+24_2542+25insTTGTTGGG (n.2542+24_2542+25insTTGTTGGG) c.2515+24_2515+25insTTGTTGGG (n.2515+24_2515+25insTTGTTGGG) | gnomAD v4 |
7 | g.150948421_150948422insCAACCACC | CA2685602578 | KCNH2 | n.3525+24_3525+25insTGGTTGGG c.2692+24_2692+25insTGGTTGGG (n.2692+24_2692+25insTGGTTGGG) c.1672+24_1672+25insTGGTTGGG (n.1672+24_1672+25insTGGTTGGG) c.2392+24_2392+25insTGGTTGGG (n.2392+24_2392+25insTGGTTGGG) c.2542+24_2542+25insTGGTTGGG (n.2542+24_2542+25insTGGTTGGG) c.2515+24_2515+25insTGGTTGGG (n.2515+24_2515+25insTGGTTGGG) | gnomAD v4 |
7 | g.150948421_150948422insCAGCCACC | CA2685602577 | KCNH2 | n.3525+24_3525+25insTGGCTGGG c.2692+24_2692+25insTGGCTGGG (n.2692+24_2692+25insTGGCTGGG) c.1672+24_1672+25insTGGCTGGG (n.1672+24_1672+25insTGGCTGGG) c.2392+24_2392+25insTGGCTGGG (n.2392+24_2392+25insTGGCTGGG) c.2542+24_2542+25insTGGCTGGG (n.2542+24_2542+25insTGGCTGGG) c.2515+24_2515+25insTGGCTGGG (n.2515+24_2515+25insTGGCTGGG) | gnomAD v4 |
7 | g.150948421_150948422insCGACCACC | CA2685602576 | KCNH2 | n.3525+24_3525+25insTGGTCGGG c.2692+24_2692+25insTGGTCGGG (n.2692+24_2692+25insTGGTCGGG) c.1672+24_1672+25insTGGTCGGG (n.1672+24_1672+25insTGGTCGGG) c.2392+24_2392+25insTGGTCGGG (n.2392+24_2392+25insTGGTCGGG) c.2542+24_2542+25insTGGTCGGG (n.2542+24_2542+25insTGGTCGGG) c.2515+24_2515+25insTGGTCGGG (n.2515+24_2515+25insTGGTCGGG) | gnomAD v4 |
7 | g.150948422_150948428del | CA578701664 | KCNH2 | n.3525+18_3525+24del c.2692+18_2692+24del (n.2692+18_2692+24del) c.1672+18_1672+24del (n.1672+18_1672+24del) c.2392+18_2392+24del (n.2392+18_2392+24del) c.2542+18_2542+24del (n.2542+18_2542+24del) c.2515+18_2515+24del (n.2515+18_2515+24del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948422_150948433del | CA2685602574 | KCNH2 | n.3525+13_3525+24del c.2692+13_2692+24del (n.2692+13_2692+24del) c.1672+13_1672+24del (n.1672+13_1672+24del) c.2392+13_2392+24del (n.2392+13_2392+24del) c.2542+13_2542+24del (n.2542+13_2542+24del) c.2515+13_2515+24del (n.2515+13_2515+24del) | gnomAD v4 |
7 | g.150948420_150948421insAA | CA2685602590 | KCNH2 | n.3525+23_3525+24insTT c.2692+23_2692+24insTT (n.2692+23_2692+24insTT) c.1672+23_1672+24insTT (n.1672+23_1672+24insTT) c.2392+23_2392+24insTT (n.2392+23_2392+24insTT) c.2542+23_2542+24insTT (n.2542+23_2542+24insTT) c.2515+23_2515+24insTT (n.2515+23_2515+24insTT) | gnomAD v4 |
7 | g.150948421C>A | CA034395 | KCNH2 | n.3525+23G>T c.2692+23G>T (n.2692+23G>T) c.1672+23G>T (n.1672+23G>T) c.2392+23G>T (n.2392+23G>T) c.2542+23G>T (n.2542+23G>T) c.2515+23G>T (n.2515+23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948421C= | CA1752431144 | KCNH2 | n.3525+23G= c.2692+23G= (n.2692+23G=) c.1672+23G= (n.1672+23G=) c.2392+23G= (n.2392+23G=) c.2542+23G= (n.2542+23G=) c.2515+23G= (n.2515+23G=) | |
7 | g.150948421C>T | CA835223205 | KCNH2 | n.3525+23G>A c.2692+23G>A (n.2692+23G>A) c.1672+23G>A (n.1672+23G>A) c.2392+23G>A (n.2392+23G>A) c.2542+23G>A (n.2542+23G>A) c.2515+23G>A (n.2515+23G>A) | dbSNP gnomAD v4 |
7 | g.150948421_150948422insAACAC | CA2685602596 | KCNH2 | n.3525+23_3525+24insTGTTG c.2692+23_2692+24insTGTTG (n.2692+23_2692+24insTGTTG) c.1672+23_1672+24insTGTTG (n.1672+23_1672+24insTGTTG) c.2392+23_2392+24insTGTTG (n.2392+23_2392+24insTGTTG) c.2542+23_2542+24insTGTTG (n.2542+23_2542+24insTGTTG) c.2515+23_2515+24insTGTTG (n.2515+23_2515+24insTGTTG) | gnomAD v4 |
7 | g.150948421_150948422insCCAAC | CA2685602589 | KCNH2 | n.3525+23_3525+24insTTGGG c.2692+23_2692+24insTTGGG (n.2692+23_2692+24insTTGGG) c.1672+23_1672+24insTTGGG (n.1672+23_1672+24insTTGGG) c.2392+23_2392+24insTTGGG (n.2392+23_2392+24insTTGGG) c.2542+23_2542+24insTTGGG (n.2542+23_2542+24insTTGGG) c.2515+23_2515+24insTTGGG (n.2515+23_2515+24insTTGGG) | gnomAD v4 |
7 | g.150948421_150948422insCGAAC | CA2685602588 | KCNH2 | n.3525+23_3525+24insTTCGG c.2692+23_2692+24insTTCGG (n.2692+23_2692+24insTTCGG) c.1672+23_1672+24insTTCGG (n.1672+23_1672+24insTTCGG) c.2392+23_2392+24insTTCGG (n.2392+23_2392+24insTTCGG) c.2542+23_2542+24insTTCGG (n.2542+23_2542+24insTTCGG) c.2515+23_2515+24insTTCGG (n.2515+23_2515+24insTTCGG) | gnomAD v4 |
7 | g.150948421_150948422insAACAAC | CA2685602594 | KCNH2 | n.3525+23_3525+24insTTGTTG c.2692+23_2692+24insTTGTTG (n.2692+23_2692+24insTTGTTG) c.1672+23_1672+24insTTGTTG (n.1672+23_1672+24insTTGTTG) c.2392+23_2392+24insTTGTTG (n.2392+23_2392+24insTTGTTG) c.2542+23_2542+24insTTGTTG (n.2542+23_2542+24insTTGTTG) c.2515+23_2515+24insTTGTTG (n.2515+23_2515+24insTTGTTG) | gnomAD v4 |
7 | g.150948421_150948422insCAACAC | CA2685602593 | KCNH2 | n.3525+23_3525+24insTGTTGG c.2692+23_2692+24insTGTTGG (n.2692+23_2692+24insTGTTGG) c.1672+23_1672+24insTGTTGG (n.1672+23_1672+24insTGTTGG) c.2392+23_2392+24insTGTTGG (n.2392+23_2392+24insTGTTGG) c.2542+23_2542+24insTGTTGG (n.2542+23_2542+24insTGTTGG) c.2515+23_2515+24insTGTTGG (n.2515+23_2515+24insTGTTGG) | gnomAD v4 |
7 | g.150948421_150948422insCGACAC | CA2685602595 | KCNH2 | n.3525+23_3525+24insTGTCGG c.2692+23_2692+24insTGTCGG (n.2692+23_2692+24insTGTCGG) c.1672+23_1672+24insTGTCGG (n.1672+23_1672+24insTGTCGG) c.2392+23_2392+24insTGTCGG (n.2392+23_2392+24insTGTCGG) c.2542+23_2542+24insTGTCGG (n.2542+23_2542+24insTGTCGG) c.2515+23_2515+24insTGTCGG (n.2515+23_2515+24insTGTCGG) | gnomAD v4 |
7 | g.150948421_150948422insGACAAC | CA2685602587 | KCNH2 | n.3525+23_3525+24insTTGTCG c.2692+23_2692+24insTTGTCG (n.2692+23_2692+24insTTGTCG) c.1672+23_1672+24insTTGTCG (n.1672+23_1672+24insTTGTCG) c.2392+23_2392+24insTTGTCG (n.2392+23_2392+24insTTGTCG) c.2542+23_2542+24insTTGTCG (n.2542+23_2542+24insTTGTCG) c.2515+23_2515+24insTTGTCG (n.2515+23_2515+24insTTGTCG) | gnomAD v4 |
7 | g.150948421_150948422insCAACAAC | CA2685602592 | KCNH2 | n.3525+23_3525+24insTTGTTGG c.2692+23_2692+24insTTGTTGG (n.2692+23_2692+24insTTGTTGG) c.1672+23_1672+24insTTGTTGG (n.1672+23_1672+24insTTGTTGG) c.2392+23_2392+24insTTGTTGG (n.2392+23_2392+24insTTGTTGG) c.2542+23_2542+24insTTGTTGG (n.2542+23_2542+24insTTGTTGG) c.2515+23_2515+24insTTGTTGG (n.2515+23_2515+24insTTGTTGG) | gnomAD v4 |
7 | g.150948421_150948422insCAACCAC | CA2685602585 | KCNH2 | n.3525+23_3525+24insTGGTTGG c.2692+23_2692+24insTGGTTGG (n.2692+23_2692+24insTGGTTGG) c.1672+23_1672+24insTGGTTGG (n.1672+23_1672+24insTGGTTGG) c.2392+23_2392+24insTGGTTGG (n.2392+23_2392+24insTGGTTGG) c.2542+23_2542+24insTGGTTGG (n.2542+23_2542+24insTGGTTGG) c.2515+23_2515+24insTGGTTGG (n.2515+23_2515+24insTGGTTGG) | gnomAD v4 |
7 | g.150948421_150948422insCAACAACCCCAC | CA2685602591 | KCNH2 | n.3525+23_3525+24insTGGGGTTGTTGG c.2692+23_2692+24insTGGGGTTGTTGG (n.2692+23_2692+24insTGGGGTTGTTGG) c.1672+23_1672+24insTGGGGTTGTTGG (n.1672+23_1672+24insTGGGGTTGTTGG) c.2392+23_2392+24insTGGGGTTGTTGG (n.2392+23_2392+24insTGGGGTTGTTGG) c.2542+23_2542+24insTGGGGTTGTTGG (n.2542+23_2542+24insTGGGGTTGTTGG) c.2515+23_2515+24insTGGGGTTGTTGG (n.2515+23_2515+24insTGGGGTTGTTGG) | gnomAD v4 |
7 | g.150948421_150948423delinsCTT | CA1752431145 | KCNH2 | n.3525+21_3525+23delinsAAG c.2692+21_2692+23delinsAAG (n.2692+21_2692+23delinsAAG) c.1672+21_1672+23delinsAAG (n.1672+21_1672+23delinsAAG) c.2392+21_2392+23delinsAAG (n.2392+21_2392+23delinsAAG) c.2542+21_2542+23delinsAAG (n.2542+21_2542+23delinsAAG) c.2515+21_2515+23delinsAAG (n.2515+21_2515+23delinsAAG) | |
7 | g.150948422_150948424del | CA578701675 | KCNH2 | n.3525+21_3525+23del c.2692+21_2692+23del (n.2692+21_2692+23del) c.1672+21_1672+23del (n.1672+21_1672+23del) c.2392+21_2392+23del (n.2392+21_2392+23del) c.2542+21_2542+23del (n.2542+21_2542+23del) c.2515+21_2515+23del (n.2515+21_2515+23del) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948422_150948427del | CA578701673 | KCNH2 | n.3525+18_3525+23del c.2692+18_2692+23del (n.2692+18_2692+23del) c.1672+18_1672+23del (n.1672+18_1672+23del) c.2392+18_2392+23del (n.2392+18_2392+23del) c.2542+18_2542+23del (n.2542+18_2542+23del) c.2515+18_2515+23del (n.2515+18_2515+23del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948422_150948432del | CA2685602586 | KCNH2 | n.3525+13_3525+23del c.2692+13_2692+23del (n.2692+13_2692+23del) c.1672+13_1672+23del (n.1672+13_1672+23del) c.2392+13_2392+23del (n.2392+13_2392+23del) c.2542+13_2542+23del (n.2542+13_2542+23del) c.2515+13_2515+23del (n.2515+13_2515+23del) | gnomAD v4 |
7 | g.150948421_150948422insA | CA2685602602 | KCNH2 | n.3525+22_3525+23insT c.2692+22_2692+23insT (n.2692+22_2692+23insT) c.1672+22_1672+23insT (n.1672+22_1672+23insT) c.2392+22_2392+23insT (n.2392+22_2392+23insT) c.2542+22_2542+23insT (n.2542+22_2542+23insT) c.2515+22_2515+23insT (n.2515+22_2515+23insT) | gnomAD v4 |
7 | g.150948421_150948422insCTG | CA2685602597 | KCNH2 | n.3525+22_3525+23insCAG c.2692+22_2692+23insCAG (n.2692+22_2692+23insCAG) c.1672+22_1672+23insCAG (n.1672+22_1672+23insCAG) c.2392+22_2392+23insCAG (n.2392+22_2392+23insCAG) c.2542+22_2542+23insCAG (n.2542+22_2542+23insCAG) c.2515+22_2515+23insCAG (n.2515+22_2515+23insCAG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCCCCCCT | CA2685602600 | KCNH2 | n.3525+22_3525+23insAGGGGGGGGGGGGGGG c.2692+22_2692+23insAGGGGGGGGGGGGGGG (n.2692+22_2692+23insAGGGGGGGGGGGGGGG) c.1672+22_1672+23insAGGGGGGGGGGGGGGG (n.1672+22_1672+23insAGGGGGGGGGGGGGGG) c.2392+22_2392+23insAGGGGGGGGGGGGGGG (n.2392+22_2392+23insAGGGGGGGGGGGGGGG) c.2542+22_2542+23insAGGGGGGGGGGGGGGG (n.2542+22_2542+23insAGGGGGGGGGGGGGGG) c.2515+22_2515+23insAGGGGGGGGGGGGGGG (n.2515+22_2515+23insAGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948421_150948422insCCCCCCCCCCCCCCCCCT | CA2685602601 | KCNH2 | n.3525+22_3525+23insAGGGGGGGGGGGGGGGGG c.2692+22_2692+23insAGGGGGGGGGGGGGGGGG (n.2692+22_2692+23insAGGGGGGGGGGGGGGGGG) c.1672+22_1672+23insAGGGGGGGGGGGGGGGGG (n.1672+22_1672+23insAGGGGGGGGGGGGGGGGG) c.2392+22_2392+23insAGGGGGGGGGGGGGGGGG (n.2392+22_2392+23insAGGGGGGGGGGGGGGGGG) c.2542+22_2542+23insAGGGGGGGGGGGGGGGGG (n.2542+22_2542+23insAGGGGGGGGGGGGGGGGG) c.2515+22_2515+23insAGGGGGGGGGGGGGGGGG (n.2515+22_2515+23insAGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948422T>A | CA2579062558 | KCNH2 | n.3525+22A>T c.2692+22A>T (n.2692+22A>T) c.1672+22A>T (n.1672+22A>T) c.2392+22A>T (n.2392+22A>T) c.2542+22A>T (n.2542+22A>T) c.2515+22A>T (n.2515+22A>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948422T>C | CA034388 | KCNH2 | n.3525+22A>G c.2692+22A>G (n.2692+22A>G) c.1672+22A>G (n.1672+22A>G) c.2392+22A>G (n.2392+22A>G) c.2542+22A>G (n.2542+22A>G) c.2515+22A>G (n.2515+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948422T>G | CA2579062559 | KCNH2 | n.3525+22A>C c.2692+22A>C (n.2692+22A>C) c.1672+22A>C (n.1672+22A>C) c.2392+22A>C (n.2392+22A>C) c.2542+22A>C (n.2542+22A>C) c.2515+22A>C (n.2515+22A>C) | gnomAD v4 |
7 | g.150948422T= | CA1752431154 | KCNH2 | n.3525+22A= c.2692+22A= (n.2692+22A=) c.1672+22A= (n.1672+22A=) c.2392+22A= (n.2392+22A=) c.2542+22A= (n.2542+22A=) c.2515+22A= (n.2515+22A=) | |
7 | g.150948422_150948423del | CA578701680 | KCNH2 | n.3525+21_3525+22del c.2692+21_2692+22del (n.2692+21_2692+22del) c.1672+21_1672+22del (n.1672+21_1672+22del) c.2392+21_2392+22del (n.2392+21_2392+22del) c.2542+21_2542+22del (n.2542+21_2542+22del) c.2515+21_2515+22del (n.2515+21_2515+22del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948423dup | CA2685602599 | KCNH2 | n.3525+22dup c.2692+22dup (n.2692+22dup) c.1672+22dup (n.1672+22dup) c.2392+22dup (n.2392+22dup) c.2542+22dup (n.2542+22dup) c.2515+22dup (n.2515+22dup) | gnomAD v4 |
7 | g.150948423del | CA578701684 | KCNH2 | n.3525+22del c.2692+22del (n.2692+22del) c.1672+22del (n.1672+22del) c.2392+22del (n.2392+22del) c.2542+22del (n.2542+22del) c.2515+22del (n.2515+22del) | gnomAD v2 gnomAD v4 |
7 | g.150948422_150948426del | CA578701681 | KCNH2 | n.3525+18_3525+22del c.2692+18_2692+22del (n.2692+18_2692+22del) c.1672+18_1672+22del (n.1672+18_1672+22del) c.2392+18_2392+22del (n.2392+18_2392+22del) c.2542+18_2542+22del (n.2542+18_2542+22del) c.2515+18_2515+22del (n.2515+18_2515+22del) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948422_150948431del | CA2685602598 | KCNH2 | n.3525+13_3525+22del c.2692+13_2692+22del (n.2692+13_2692+22del) c.1672+13_1672+22del (n.1672+13_1672+22del) c.2392+13_2392+22del (n.2392+13_2392+22del) c.2542+13_2542+22del (n.2542+13_2542+22del) c.2515+13_2515+22del (n.2515+13_2515+22del) | gnomAD v4 |
7 | g.150948422_150948442del | CA2778425285 | KCNH2 | n.3525+2_3525+22del c.2692+2_2692+22del (n.2692+2_2692+22del) c.1672+2_1672+22del (n.1672+2_1672+22del) c.2392+2_2392+22del (n.2392+2_2392+22del) c.2542+2_2542+22del (n.2542+2_2542+22del) c.2515+2_2515+22del (n.2515+2_2515+22del) | |
7 | g.150948422_150948423insACAC | CA2685602603 | KCNH2 | n.3525+21_3525+22insGTGT c.2692+21_2692+22insGTGT (n.2692+21_2692+22insGTGT) c.1672+21_1672+22insGTGT (n.1672+21_1672+22insGTGT) c.2392+21_2392+22insGTGT (n.2392+21_2392+22insGTGT) c.2542+21_2542+22insGTGT (n.2542+21_2542+22insGTGT) c.2515+21_2515+22insGTGT (n.2515+21_2515+22insGTGT) | gnomAD v4 |
7 | g.150948423T>A | CA2685602605 | KCNH2 | n.3525+21A>T c.2692+21A>T (n.2692+21A>T) c.1672+21A>T (n.1672+21A>T) c.2392+21A>T (n.2392+21A>T) c.2542+21A>T (n.2542+21A>T) c.2515+21A>T (n.2515+21A>T) | gnomAD v4 |
7 | g.150948423T>C | CA578701690 | KCNH2 | n.3525+21A>G c.2692+21A>G (n.2692+21A>G) c.1672+21A>G (n.1672+21A>G) c.2392+21A>G (n.2392+21A>G) c.2542+21A>G (n.2542+21A>G) c.2515+21A>G (n.2515+21A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948423T>G | CA2685602604 | KCNH2 | n.3525+21A>C c.2692+21A>C (n.2692+21A>C) c.1672+21A>C (n.1672+21A>C) c.2392+21A>C (n.2392+21A>C) c.2542+21A>C (n.2542+21A>C) c.2515+21A>C (n.2515+21A>C) | gnomAD v4 |
7 | g.150948423_150948424del | CA578701689 | KCNH2 | n.3525+20_3525+21del c.2692+20_2692+21del (n.2692+20_2692+21del) c.1672+20_1672+21del (n.1672+20_1672+21del) c.2392+20_2392+21del (n.2392+20_2392+21del) c.2542+20_2542+21del (n.2542+20_2542+21del) c.2515+20_2515+21del (n.2515+20_2515+21del) | gnomAD v2 |
7 | g.150948423_150948424insACAAC | CA2685602620 | KCNH2 | n.3525+20_3525+21insGTTGT c.2692+20_2692+21insGTTGT (n.2692+20_2692+21insGTTGT) c.1672+20_1672+21insGTTGT (n.1672+20_1672+21insGTTGT) c.2392+20_2392+21insGTTGT (n.2392+20_2392+21insGTTGT) c.2542+20_2542+21insGTTGT (n.2542+20_2542+21insGTTGT) c.2515+20_2515+21insGTTGT (n.2515+20_2515+21insGTTGT) | gnomAD v4 |
7 | g.150948423_150948424insGCAAC | CA2685602614 | KCNH2 | n.3525+20_3525+21insGTTGC c.2692+20_2692+21insGTTGC (n.2692+20_2692+21insGTTGC) c.1672+20_1672+21insGTTGC (n.1672+20_1672+21insGTTGC) c.2392+20_2392+21insGTTGC (n.2392+20_2392+21insGTTGC) c.2542+20_2542+21insGTTGC (n.2542+20_2542+21insGTTGC) c.2515+20_2515+21insGTTGC (n.2515+20_2515+21insGTTGC) | gnomAD v4 |
7 | g.150948423_150948424insGCACCCCCCCCCCCCC | CA2685602615 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGTGC c.2692+20_2692+21insGGGGGGGGGGGGGTGC (n.2692+20_2692+21insGGGGGGGGGGGGGTGC) c.1672+20_1672+21insGGGGGGGGGGGGGTGC (n.1672+20_1672+21insGGGGGGGGGGGGGTGC) c.2392+20_2392+21insGGGGGGGGGGGGGTGC (n.2392+20_2392+21insGGGGGGGGGGGGGTGC) c.2542+20_2542+21insGGGGGGGGGGGGGTGC (n.2542+20_2542+21insGGGGGGGGGGGGGTGC) c.2515+20_2515+21insGGGGGGGGGGGGGTGC (n.2515+20_2515+21insGGGGGGGGGGGGGTGC) | gnomAD v4 |
7 | g.150948424C>A | CA578701694 | KCNH2 | n.3525+20G>T c.2692+20G>T (n.2692+20G>T) c.1672+20G>T (n.1672+20G>T) c.2392+20G>T (n.2392+20G>T) c.2542+20G>T (n.2542+20G>T) c.2515+20G>T (n.2515+20G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948424C= | CA1752431159 | KCNH2 | n.3525+20G= c.2692+20G= (n.2692+20G=) c.1672+20G= (n.1672+20G=) c.2392+20G= (n.2392+20G=) c.2542+20G= (n.2542+20G=) c.2515+20G= (n.2515+20G=) | |
7 | g.150948424C>G | CA2685602618 | KCNH2 | n.3525+20G>C c.2692+20G>C (n.2692+20G>C) c.1672+20G>C (n.1672+20G>C) c.2392+20G>C (n.2392+20G>C) c.2542+20G>C (n.2542+20G>C) c.2515+20G>C (n.2515+20G>C) | gnomAD v4 |
7 | g.150948424C>T | CA034363 | KCNH2 | n.3525+20G>A c.2692+20G>A (n.2692+20G>A) c.1672+20G>A (n.1672+20G>A) c.2392+20G>A (n.2392+20G>A) c.2542+20G>A (n.2542+20G>A) c.2515+20G>A (n.2515+20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948424_150948425insAAC | CA2778425328 | KCNH2 | n.3525+20_3525+21insTTG c.2692+20_2692+21insTTG (n.2692+20_2692+21insTTG) c.1672+20_1672+21insTTG (n.1672+20_1672+21insTTG) c.2392+20_2392+21insTTG (n.2392+20_2392+21insTTG) c.2542+20_2542+21insTTG (n.2542+20_2542+21insTTG) c.2515+20_2515+21insTTG (n.2515+20_2515+21insTTG) | |
7 | g.150948424_150948425insAACAACC | CA2778425327 | KCNH2 | n.3525+20_3525+21insGTTGTTG c.2692+20_2692+21insGTTGTTG (n.2692+20_2692+21insGTTGTTG) c.1672+20_1672+21insGTTGTTG (n.1672+20_1672+21insGTTGTTG) c.2392+20_2392+21insGTTGTTG (n.2392+20_2392+21insGTTGTTG) c.2542+20_2542+21insGTTGTTG (n.2542+20_2542+21insGTTGTTG) c.2515+20_2515+21insGTTGTTG (n.2515+20_2515+21insGTTGTTG) | |
7 | g.150948424_150948425insAACAACCC | CA2778425324 | KCNH2 | n.3525+20_3525+21insGGTTGTTG c.2692+20_2692+21insGGTTGTTG (n.2692+20_2692+21insGGTTGTTG) c.1672+20_1672+21insGGTTGTTG (n.1672+20_1672+21insGGTTGTTG) c.2392+20_2392+21insGGTTGTTG (n.2392+20_2392+21insGGTTGTTG) c.2542+20_2542+21insGGTTGTTG (n.2542+20_2542+21insGGTTGTTG) c.2515+20_2515+21insGGTTGTTG (n.2515+20_2515+21insGGTTGTTG) | |
7 | g.150948424_150948425insTCCCCCCC | CA2685602611 | KCNH2 | n.3525+20_3525+21insGGGGGGAG c.2692+20_2692+21insGGGGGGAG (n.2692+20_2692+21insGGGGGGAG) c.1672+20_1672+21insGGGGGGAG (n.1672+20_1672+21insGGGGGGAG) c.2392+20_2392+21insGGGGGGAG (n.2392+20_2392+21insGGGGGGAG) c.2542+20_2542+21insGGGGGGAG (n.2542+20_2542+21insGGGGGGAG) c.2515+20_2515+21insGGGGGGAG (n.2515+20_2515+21insGGGGGGAG) | gnomAD v4 |
7 | g.150948424_150948425insTCCCCCCCC | CA2838273373 | KCNH2 | n.3525+20_3525+21insGGGGGGGAG c.2692+20_2692+21insGGGGGGGAG (n.2692+20_2692+21insGGGGGGGAG) c.1672+20_1672+21insGGGGGGGAG (n.1672+20_1672+21insGGGGGGGAG) c.2392+20_2392+21insGGGGGGGAG (n.2392+20_2392+21insGGGGGGGAG) c.2542+20_2542+21insGGGGGGGAG (n.2542+20_2542+21insGGGGGGGAG) c.2515+20_2515+21insGGGGGGGAG (n.2515+20_2515+21insGGGGGGGAG) | |
7 | g.150948424_150948425insAACAACCCCCCCC | CA2778425320 | KCNH2 | n.3525+20_3525+21insGGGGGGGTTGTTG c.2692+20_2692+21insGGGGGGGTTGTTG (n.2692+20_2692+21insGGGGGGGTTGTTG) c.1672+20_1672+21insGGGGGGGTTGTTG (n.1672+20_1672+21insGGGGGGGTTGTTG) c.2392+20_2392+21insGGGGGGGTTGTTG (n.2392+20_2392+21insGGGGGGGTTGTTG) c.2542+20_2542+21insGGGGGGGTTGTTG (n.2542+20_2542+21insGGGGGGGTTGTTG) c.2515+20_2515+21insGGGGGGGTTGTTG (n.2515+20_2515+21insGGGGGGGTTGTTG) | |
7 | g.150948424_150948425insTCCCCCCCCCCCC | CA2685602612 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGAG c.2692+20_2692+21insGGGGGGGGGGGAG (n.2692+20_2692+21insGGGGGGGGGGGAG) c.1672+20_1672+21insGGGGGGGGGGGAG (n.1672+20_1672+21insGGGGGGGGGGGAG) c.2392+20_2392+21insGGGGGGGGGGGAG (n.2392+20_2392+21insGGGGGGGGGGGAG) c.2542+20_2542+21insGGGGGGGGGGGAG (n.2542+20_2542+21insGGGGGGGGGGGAG) c.2515+20_2515+21insGGGGGGGGGGGAG (n.2515+20_2515+21insGGGGGGGGGGGAG) | gnomAD v4 |
7 | g.150948424_150948425insTCCCCCCCCCCCCCCCCCC | CA2685602613 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGAG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGAG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGAG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGAG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGAG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGAG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGAG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGAG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGAG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGAG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGAG) | gnomAD v4 |
7 | g.150948425_150948426insCCC | CA578701702 | KCNH2 | n.3525+20_3525+21insGGG c.2692+20_2692+21insGGG (n.2692+20_2692+21insGGG) c.1672+20_1672+21insGGG (n.1672+20_1672+21insGGG) c.2392+20_2392+21insGGG (n.2392+20_2392+21insGGG) c.2542+20_2542+21insGGG (n.2542+20_2542+21insGGG) c.2515+20_2515+21insGGG (n.2515+20_2515+21insGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCC | CA2563153420 | KCNH2 | n.3525+20_3525+21insGGGG c.2692+20_2692+21insGGGG (n.2692+20_2692+21insGGGG) c.1672+20_1672+21insGGGG (n.1672+20_1672+21insGGGG) c.2392+20_2392+21insGGGG (n.2392+20_2392+21insGGGG) c.2542+20_2542+21insGGGG (n.2542+20_2542+21insGGGG) c.2515+20_2515+21insGGGG (n.2515+20_2515+21insGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCC | CA578701701 | KCNH2 | n.3525+20_3525+21insGGGGG c.2692+20_2692+21insGGGGG (n.2692+20_2692+21insGGGGG) c.1672+20_1672+21insGGGGG (n.1672+20_1672+21insGGGGG) c.2392+20_2392+21insGGGGG (n.2392+20_2392+21insGGGGG) c.2542+20_2542+21insGGGGG (n.2542+20_2542+21insGGGGG) c.2515+20_2515+21insGGGGG (n.2515+20_2515+21insGGGGG) | gnomAD v2 gnomAD v4 |
7 | g.150948425_150948426insCCCCCC | CA578701700 | KCNH2 | n.3525+20_3525+21insGGGGGG c.2692+20_2692+21insGGGGGG (n.2692+20_2692+21insGGGGGG) c.1672+20_1672+21insGGGGGG (n.1672+20_1672+21insGGGGGG) c.2392+20_2392+21insGGGGGG (n.2392+20_2392+21insGGGGGG) c.2542+20_2542+21insGGGGGG (n.2542+20_2542+21insGGGGGG) c.2515+20_2515+21insGGGGGG (n.2515+20_2515+21insGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insGCCCCC | CA2685602607 | KCNH2 | n.3525+20_3525+21insGGGCGG c.2692+20_2692+21insGGGCGG (n.2692+20_2692+21insGGGCGG) c.1672+20_1672+21insGGGCGG (n.1672+20_1672+21insGGGCGG) c.2392+20_2392+21insGGGCGG (n.2392+20_2392+21insGGGCGG) c.2542+20_2542+21insGGGCGG (n.2542+20_2542+21insGGGCGG) c.2515+20_2515+21insGGGCGG (n.2515+20_2515+21insGGGCGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCC | CA1108704938 | KCNH2 | n.3525+20_3525+21insGGGGGGG c.2692+20_2692+21insGGGGGGG (n.2692+20_2692+21insGGGGGGG) c.1672+20_1672+21insGGGGGGG (n.1672+20_1672+21insGGGGGGG) c.2392+20_2392+21insGGGGGGG (n.2392+20_2392+21insGGGGGGG) c.2542+20_2542+21insGGGGGGG (n.2542+20_2542+21insGGGGGGG) c.2515+20_2515+21insGGGGGGG (n.2515+20_2515+21insGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCC | CA1108704937 | KCNH2 | n.3525+20_3525+21insGGGGGGGG c.2692+20_2692+21insGGGGGGGG (n.2692+20_2692+21insGGGGGGGG) c.1672+20_1672+21insGGGGGGGG (n.1672+20_1672+21insGGGGGGGG) c.2392+20_2392+21insGGGGGGGG (n.2392+20_2392+21insGGGGGGGG) c.2542+20_2542+21insGGGGGGGG (n.2542+20_2542+21insGGGGGGGG) c.2515+20_2515+21insGGGGGGGG (n.2515+20_2515+21insGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCC | CA578701699 | KCNH2 | n.3525+20_3525+21insGGGGGGGGG c.2692+20_2692+21insGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCC | CA1108704935 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCC | CA1108704932 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCC | CA578701692 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGG) | gnomAD v2 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCC | CA2685602622 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCC | CA578701698 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCC | CA1108704930 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCC | CA2685602623 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCC | CA2685602619 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCC | CA1108704928 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCC | CA1108704927 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCC | CA578701697 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGGGG) | gnomAD v2 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCCC | CA2685602606 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCCCCCC | CA2778425313 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGGGGGGGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGGGGGGGG) | |
7 | g.150948425dup | CA2685602621 | KCNH2 | n.3525+20dup c.2692+20dup (n.2692+20dup) c.1672+20dup (n.1672+20dup) c.2392+20dup (n.2392+20dup) c.2542+20dup (n.2542+20dup) c.2515+20dup (n.2515+20dup) | dbSNP gnomAD v4 |
7 | g.150948424_150948425dup | CA1108704942 | KCNH2 | n.3525+19_3525+20dup c.2692+19_2692+20dup (n.2692+19_2692+20dup) c.1672+19_1672+20dup (n.1672+19_1672+20dup) c.2392+19_2392+20dup (n.2392+19_2392+20dup) c.2542+19_2542+20dup (n.2542+19_2542+20dup) c.2515+19_2515+20dup (n.2515+19_2515+20dup) | gnomAD v3 gnomAD v4 |
7 | g.150948425del | CA2685602616 | KCNH2 | n.3525+20del c.2692+20del (n.2692+20del) c.1672+20del (n.1672+20del) c.2392+20del (n.2392+20del) c.2542+20del (n.2542+20del) c.2515+20del (n.2515+20del) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCTCCCC | CA2685602608 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGAGG c.2692+20_2692+21insGGGGGGGGGGGGGAGG (n.2692+20_2692+21insGGGGGGGGGGGGGAGG) c.1672+20_1672+21insGGGGGGGGGGGGGAGG (n.1672+20_1672+21insGGGGGGGGGGGGGAGG) c.2392+20_2392+21insGGGGGGGGGGGGGAGG (n.2392+20_2392+21insGGGGGGGGGGGGGAGG) c.2542+20_2542+21insGGGGGGGGGGGGGAGG (n.2542+20_2542+21insGGGGGGGGGGGGGAGG) c.2515+20_2515+21insGGGGGGGGGGGGGAGG (n.2515+20_2515+21insGGGGGGGGGGGGGAGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCTCCCC | CA2685602609 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGAGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGAGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGAGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGAGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGAGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGAGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGAGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGAGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGAGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGAGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGAGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCCTCCCC | CA2685602610 | KCNH2 | n.3525+20_3525+21insGGGGGGGGGGGGGGGGGGAGG c.2692+20_2692+21insGGGGGGGGGGGGGGGGGGAGG (n.2692+20_2692+21insGGGGGGGGGGGGGGGGGGAGG) c.1672+20_1672+21insGGGGGGGGGGGGGGGGGGAGG (n.1672+20_1672+21insGGGGGGGGGGGGGGGGGGAGG) c.2392+20_2392+21insGGGGGGGGGGGGGGGGGGAGG (n.2392+20_2392+21insGGGGGGGGGGGGGGGGGGAGG) c.2542+20_2542+21insGGGGGGGGGGGGGGGGGGAGG (n.2542+20_2542+21insGGGGGGGGGGGGGGGGGGAGG) c.2515+20_2515+21insGGGGGGGGGGGGGGGGGGAGG (n.2515+20_2515+21insGGGGGGGGGGGGGGGGGGAGG) | gnomAD v4 |
7 | g.150948431_150948435del | CA2685602617 | KCNH2 | n.3525+16_3525+20del c.2692+16_2692+20del (n.2692+16_2692+20del) c.1672+16_1672+20del (n.1672+16_1672+20del) c.2392+16_2392+20del (n.2392+16_2392+20del) c.2542+16_2542+20del (n.2542+16_2542+20del) c.2515+16_2515+20del (n.2515+16_2515+20del) | gnomAD v4 |
7 | g.150948424_150948425insA | CA2685602630 | KCNH2 | n.3525+19_3525+20insT c.2692+19_2692+20insT (n.2692+19_2692+20insT) c.1672+19_1672+20insT (n.1672+19_1672+20insT) c.2392+19_2392+20insT (n.2392+19_2392+20insT) c.2542+19_2542+20insT (n.2542+19_2542+20insT) c.2515+19_2515+20insT (n.2515+19_2515+20insT) | gnomAD v4 |
7 | g.150948424_150948425insG | CA2685602629 | KCNH2 | n.3525+19_3525+20insC c.2692+19_2692+20insC (n.2692+19_2692+20insC) c.1672+19_1672+20insC (n.1672+19_1672+20insC) c.2392+19_2392+20insC (n.2392+19_2392+20insC) c.2542+19_2542+20insC (n.2542+19_2542+20insC) c.2515+19_2515+20insC (n.2515+19_2515+20insC) | gnomAD v4 |
7 | g.150948424_150948425insAA | CA1108704945 | KCNH2 | n.3525+19_3525+20insTT c.2692+19_2692+20insTT (n.2692+19_2692+20insTT) c.1672+19_1672+20insTT (n.1672+19_1672+20insTT) c.2392+19_2392+20insTT (n.2392+19_2392+20insTT) c.2542+19_2542+20insTT (n.2542+19_2542+20insTT) c.2515+19_2515+20insTT (n.2515+19_2515+20insTT) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948424_150948425insAG | CA2685602634 | KCNH2 | n.3525+19_3525+20insCT c.2692+19_2692+20insCT (n.2692+19_2692+20insCT) c.1672+19_1672+20insCT (n.1672+19_1672+20insCT) c.2392+19_2392+20insCT (n.2392+19_2392+20insCT) c.2542+19_2542+20insCT (n.2542+19_2542+20insCT) c.2515+19_2515+20insCT (n.2515+19_2515+20insCT) | gnomAD v4 |
7 | g.150948424_150948425insGA | CA2685602628 | KCNH2 | n.3525+19_3525+20insTC c.2692+19_2692+20insTC (n.2692+19_2692+20insTC) c.1672+19_1672+20insTC (n.1672+19_1672+20insTC) c.2392+19_2392+20insTC (n.2392+19_2392+20insTC) c.2542+19_2542+20insTC (n.2542+19_2542+20insTC) c.2515+19_2515+20insTC (n.2515+19_2515+20insTC) | gnomAD v4 |
7 | g.150948424_150948425insGG | CA2685602627 | KCNH2 | n.3525+19_3525+20insCC c.2692+19_2692+20insCC (n.2692+19_2692+20insCC) c.1672+19_1672+20insCC (n.1672+19_1672+20insCC) c.2392+19_2392+20insCC (n.2392+19_2392+20insCC) c.2542+19_2542+20insCC (n.2542+19_2542+20insCC) c.2515+19_2515+20insCC (n.2515+19_2515+20insCC) | gnomAD v4 |
7 | g.150948424_150948425insACA | CA2685602631 | KCNH2 | n.3525+19_3525+20insTGT c.2692+19_2692+20insTGT (n.2692+19_2692+20insTGT) c.1672+19_1672+20insTGT (n.1672+19_1672+20insTGT) c.2392+19_2392+20insTGT (n.2392+19_2392+20insTGT) c.2542+19_2542+20insTGT (n.2542+19_2542+20insTGT) c.2515+19_2515+20insTGT (n.2515+19_2515+20insTGT) | gnomAD v4 |
7 | g.150948424_150948425insACAAA | CA2685602632 | KCNH2 | n.3525+19_3525+20insTTTGT c.2692+19_2692+20insTTTGT (n.2692+19_2692+20insTTTGT) c.1672+19_1672+20insTTTGT (n.1672+19_1672+20insTTTGT) c.2392+19_2392+20insTTTGT (n.2392+19_2392+20insTTTGT) c.2542+19_2542+20insTTTGT (n.2542+19_2542+20insTTTGT) c.2515+19_2515+20insTTTGT (n.2515+19_2515+20insTTTGT) | gnomAD v4 |
7 | g.150948425C>A | CA2685602626 | KCNH2 | n.3525+19G>T c.2692+19G>T (n.2692+19G>T) c.1672+19G>T (n.1672+19G>T) c.2392+19G>T (n.2392+19G>T) c.2542+19G>T (n.2542+19G>T) c.2515+19G>T (n.2515+19G>T) | gnomAD v4 |
7 | g.150948425C>G | CA2685602625 | KCNH2 | n.3525+19G>C c.2692+19G>C (n.2692+19G>C) c.1672+19G>C (n.1672+19G>C) c.2392+19G>C (n.2392+19G>C) c.2542+19G>C (n.2542+19G>C) c.2515+19G>C (n.2515+19G>C) | gnomAD v4 |
7 | g.150948425C>T | CA578701704 | KCNH2 | n.3525+19G>A c.2692+19G>A (n.2692+19G>A) c.1672+19G>A (n.1672+19G>A) c.2392+19G>A (n.2392+19G>A) c.2542+19G>A (n.2542+19G>A) c.2515+19G>A (n.2515+19G>A) | gnomAD v2 gnomAD v4 |
7 | g.150948425_150948426insAC | CA2685602624 | KCNH2 | n.3525+19_3525+20insTG c.2692+19_2692+20insTG (n.2692+19_2692+20insTG) c.1672+19_1672+20insTG (n.1672+19_1672+20insTG) c.2392+19_2392+20insTG (n.2392+19_2392+20insTG) c.2542+19_2542+20insTG (n.2542+19_2542+20insTG) c.2515+19_2515+20insTG (n.2515+19_2515+20insTG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCCCTTC | CA1108704946 | KCNH2 | n.3525+19_3525+20insAAGGGGGGGGGGGGGGGGGGGGGG c.2692+19_2692+20insAAGGGGGGGGGGGGGGGGGGGGGG (n.2692+19_2692+20insAAGGGGGGGGGGGGGGGGGGGGGG) c.1672+19_1672+20insAAGGGGGGGGGGGGGGGGGGGGGG (n.1672+19_1672+20insAAGGGGGGGGGGGGGGGGGGGGGG) c.2392+19_2392+20insAAGGGGGGGGGGGGGGGGGGGGGG (n.2392+19_2392+20insAAGGGGGGGGGGGGGGGGGGGGGG) c.2542+19_2542+20insAAGGGGGGGGGGGGGGGGGGGGGG (n.2542+19_2542+20insAAGGGGGGGGGGGGGGGGGGGGGG) c.2515+19_2515+20insAAGGGGGGGGGGGGGGGGGGGGGG (n.2515+19_2515+20insAAGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCCCCCTC | CA2685602633 | KCNH2 | n.3525+19_3525+20insAGGGGGGGGGGGGGGGGGGGGGGGG c.2692+19_2692+20insAGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+19_2692+20insAGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+19_1672+20insAGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+19_1672+20insAGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+19_2392+20insAGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+19_2392+20insAGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+19_2542+20insAGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+19_2542+20insAGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+19_2515+20insAGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+19_2515+20insAGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426delinsCT | CA1752431164 | KCNH2 | n.3525+18_3525+19delinsAG c.2692+18_2692+19delinsAG (n.2692+18_2692+19delinsAG) c.1672+18_1672+19delinsAG (n.1672+18_1672+19delinsAG) c.2392+18_2392+19delinsAG (n.2392+18_2392+19delinsAG) c.2542+18_2542+19delinsAG (n.2542+18_2542+19delinsAG) c.2515+18_2515+19delinsAG (n.2515+18_2515+19delinsAG) | |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCCTTCTCCCC | CA578701703 | KCNH2 | n.3525+19_3525+20insAAGGGGGGGGGGGGGGGGGGGGAG c.2692+19_2692+20insAAGGGGGGGGGGGGGGGGGGGGAG (n.2692+19_2692+20insAAGGGGGGGGGGGGGGGGGGGGAG) c.1672+19_1672+20insAAGGGGGGGGGGGGGGGGGGGGAG (n.1672+19_1672+20insAAGGGGGGGGGGGGGGGGGGGGAG) c.2392+19_2392+20insAAGGGGGGGGGGGGGGGGGGGGAG (n.2392+19_2392+20insAAGGGGGGGGGGGGGGGGGGGGAG) c.2542+19_2542+20insAAGGGGGGGGGGGGGGGGGGGGAG (n.2542+19_2542+20insAAGGGGGGGGGGGGGGGGGGGGAG) c.2515+19_2515+20insAAGGGGGGGGGGGGGGGGGGGGAG (n.2515+19_2515+20insAAGGGGGGGGGGGGGGGGGGGGAG) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948425_150948426insA | CA2685602635 | KCNH2 | n.3525+18_3525+19insT c.2692+18_2692+19insT (n.2692+18_2692+19insT) c.1672+18_1672+19insT (n.1672+18_1672+19insT) c.2392+18_2392+19insT (n.2392+18_2392+19insT) c.2542+18_2542+19insT (n.2542+18_2542+19insT) c.2515+18_2515+19insT (n.2515+18_2515+19insT) | gnomAD v4 |
7 | g.150948425_150948426insAA | CA2685602645 | KCNH2 | n.3525+18_3525+19insTT c.2692+18_2692+19insTT (n.2692+18_2692+19insTT) c.1672+18_1672+19insTT (n.1672+18_1672+19insTT) c.2392+18_2392+19insTT (n.2392+18_2392+19insTT) c.2542+18_2542+19insTT (n.2542+18_2542+19insTT) c.2515+18_2515+19insTT (n.2515+18_2515+19insTT) | gnomAD v4 |
7 | g.150948425_150948426insCA | CA2685602642 | KCNH2 | n.3525+18_3525+19insTG c.2692+18_2692+19insTG (n.2692+18_2692+19insTG) c.1672+18_1672+19insTG (n.1672+18_1672+19insTG) c.2392+18_2392+19insTG (n.2392+18_2392+19insTG) c.2542+18_2542+19insTG (n.2542+18_2542+19insTG) c.2515+18_2515+19insTG (n.2515+18_2515+19insTG) | gnomAD v4 |
7 | g.150948425_150948426insACA | CA2685602643 | KCNH2 | n.3525+18_3525+19insTGT c.2692+18_2692+19insTGT (n.2692+18_2692+19insTGT) c.1672+18_1672+19insTGT (n.1672+18_1672+19insTGT) c.2392+18_2392+19insTGT (n.2392+18_2392+19insTGT) c.2542+18_2542+19insTGT (n.2542+18_2542+19insTGT) c.2515+18_2515+19insTGT (n.2515+18_2515+19insTGT) | gnomAD v4 |
7 | g.150948425_150948426insAACA | CA2685602644 | KCNH2 | n.3525+18_3525+19insTGTT c.2692+18_2692+19insTGTT (n.2692+18_2692+19insTGTT) c.1672+18_1672+19insTGTT (n.1672+18_1672+19insTGTT) c.2392+18_2392+19insTGTT (n.2392+18_2392+19insTGTT) c.2542+18_2542+19insTGTT (n.2542+18_2542+19insTGTT) c.2515+18_2515+19insTGTT (n.2515+18_2515+19insTGTT) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCA | CA2685602641 | KCNH2 | n.3525+18_3525+19insTGGGGG c.2692+18_2692+19insTGGGGG (n.2692+18_2692+19insTGGGGG) c.1672+18_1672+19insTGGGGG (n.1672+18_1672+19insTGGGGG) c.2392+18_2392+19insTGGGGG (n.2392+18_2392+19insTGGGGG) c.2542+18_2542+19insTGGGGG (n.2542+18_2542+19insTGGGGG) c.2515+18_2515+19insTGGGGG (n.2515+18_2515+19insTGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCCCTT | CA2685602639 | KCNH2 | n.3525+18_3525+19insAAGGGGGGGGGGGGGGGGGGGGG c.2692+18_2692+19insAAGGGGGGGGGGGGGGGGGGGGG (n.2692+18_2692+19insAAGGGGGGGGGGGGGGGGGGGGG) c.1672+18_1672+19insAAGGGGGGGGGGGGGGGGGGGGG (n.1672+18_1672+19insAAGGGGGGGGGGGGGGGGGGGGG) c.2392+18_2392+19insAAGGGGGGGGGGGGGGGGGGGGG (n.2392+18_2392+19insAAGGGGGGGGGGGGGGGGGGGGG) c.2542+18_2542+19insAAGGGGGGGGGGGGGGGGGGGGG (n.2542+18_2542+19insAAGGGGGGGGGGGGGGGGGGGGG) c.2515+18_2515+19insAAGGGGGGGGGGGGGGGGGGGGG (n.2515+18_2515+19insAAGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCCCTG | CA2685602640 | KCNH2 | n.3525+18_3525+19insCAGGGGGGGGGGGGGGGGGGGGG c.2692+18_2692+19insCAGGGGGGGGGGGGGGGGGGGGG (n.2692+18_2692+19insCAGGGGGGGGGGGGGGGGGGGGG) c.1672+18_1672+19insCAGGGGGGGGGGGGGGGGGGGGG (n.1672+18_1672+19insCAGGGGGGGGGGGGGGGGGGGGG) c.2392+18_2392+19insCAGGGGGGGGGGGGGGGGGGGGG (n.2392+18_2392+19insCAGGGGGGGGGGGGGGGGGGGGG) c.2542+18_2542+19insCAGGGGGGGGGGGGGGGGGGGGG (n.2542+18_2542+19insCAGGGGGGGGGGGGGGGGGGGGG) c.2515+18_2515+19insCAGGGGGGGGGGGGGGGGGGGGG (n.2515+18_2515+19insCAGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCCCCCCCCCCCCCCCCCCCCCTTT | CA2685602646 | KCNH2 | n.3525+18_3525+19insAAAGGGGGGGGGGGGGGGGGGGGG c.2692+18_2692+19insAAAGGGGGGGGGGGGGGGGGGGGG (n.2692+18_2692+19insAAAGGGGGGGGGGGGGGGGGGGGG) c.1672+18_1672+19insAAAGGGGGGGGGGGGGGGGGGGGG (n.1672+18_1672+19insAAAGGGGGGGGGGGGGGGGGGGGG) c.2392+18_2392+19insAAAGGGGGGGGGGGGGGGGGGGGG (n.2392+18_2392+19insAAAGGGGGGGGGGGGGGGGGGGGG) c.2542+18_2542+19insAAAGGGGGGGGGGGGGGGGGGGGG (n.2542+18_2542+19insAAAGGGGGGGGGGGGGGGGGGGGG) c.2515+18_2515+19insAAAGGGGGGGGGGGGGGGGGGGGG (n.2515+18_2515+19insAAAGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948425_150948426insCACCCCCCCCCCCCCCCCACCCCCCAG | CA2778425357 | KCNH2 | n.3525+18_3525+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG c.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG (n.2692+18_2692+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG) c.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG (n.1672+18_1672+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG) c.2392+18_2392+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG (n.2392+18_2392+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG) c.2542+18_2542+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG (n.2542+18_2542+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG) c.2515+18_2515+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG (n.2515+18_2515+19insCTGGGGGGTGGGGGGGGGGGGGGGGTG) | |
7 | g.150948426del | CA578701709 | KCNH2 | n.3525+18del c.2692+18del (n.2692+18del) c.1672+18del (n.1672+18del) c.2392+18del (n.2392+18del) c.2542+18del (n.2542+18del) c.2515+18del (n.2515+18del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948426T>A | CA1108704949 | KCNH2 | n.3525+18A>T c.2692+18A>T (n.2692+18A>T) c.1672+18A>T (n.1672+18A>T) c.2392+18A>T (n.2392+18A>T) c.2542+18A>T (n.2542+18A>T) c.2515+18A>T (n.2515+18A>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948426T>C | CA169073092 | KCNH2 | n.3525+18A>G c.2692+18A>G (n.2692+18A>G) c.1672+18A>G (n.1672+18A>G) c.2392+18A>G (n.2392+18A>G) c.2542+18A>G (n.2542+18A>G) c.2515+18A>G (n.2515+18A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948426T>G | CA2685602636 | KCNH2 | n.3525+18A>C c.2692+18A>C (n.2692+18A>C) c.1672+18A>C (n.1672+18A>C) c.2392+18A>C (n.2392+18A>C) c.2542+18A>C (n.2542+18A>C) c.2515+18A>C (n.2515+18A>C) | gnomAD v4 |
7 | g.150948426T= | CA1752431168 | KCNH2 | n.3525+18A= c.2692+18A= (n.2692+18A=) c.1672+18A= (n.1672+18A=) c.2392+18A= (n.2392+18A=) c.2542+18A= (n.2542+18A=) c.2515+18A= (n.2515+18A=) | |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCCTTTCCCC | CA2685602638 | KCNH2 | n.3525+18_3525+19insAAGGGGGGGGGGGGGGGGGGGGA c.2692+18_2692+19insAAGGGGGGGGGGGGGGGGGGGGA (n.2692+18_2692+19insAAGGGGGGGGGGGGGGGGGGGGA) c.1672+18_1672+19insAAGGGGGGGGGGGGGGGGGGGGA (n.1672+18_1672+19insAAGGGGGGGGGGGGGGGGGGGGA) c.2392+18_2392+19insAAGGGGGGGGGGGGGGGGGGGGA (n.2392+18_2392+19insAAGGGGGGGGGGGGGGGGGGGGA) c.2542+18_2542+19insAAGGGGGGGGGGGGGGGGGGGGA (n.2542+18_2542+19insAAGGGGGGGGGGGGGGGGGGGGA) c.2515+18_2515+19insAAGGGGGGGGGGGGGGGGGGGGA (n.2515+18_2515+19insAAGGGGGGGGGGGGGGGGGGGGA) | gnomAD v4 |
7 | g.150948426_150948431del | CA2685602637 | KCNH2 | n.3525+13_3525+18del c.2692+13_2692+18del (n.2692+13_2692+18del) c.1672+13_1672+18del (n.1672+13_1672+18del) c.2392+13_2392+18del (n.2392+13_2392+18del) c.2542+13_2542+18del (n.2542+13_2542+18del) c.2515+13_2515+18del (n.2515+13_2515+18del) | gnomAD v4 |
7 | g.150948426_150948427insA | CA2685602662 | KCNH2 | n.3525+17_3525+18insT c.2692+17_2692+18insT (n.2692+17_2692+18insT) c.1672+17_1672+18insT (n.1672+17_1672+18insT) c.2392+17_2392+18insT (n.2392+17_2392+18insT) c.2542+17_2542+18insT (n.2542+17_2542+18insT) c.2515+17_2515+18insT (n.2515+17_2515+18insT) | gnomAD v4 |
7 | g.150948426_150948427insACAA | CA2685602663 | KCNH2 | n.3525+17_3525+18insTTGT c.2692+17_2692+18insTTGT (n.2692+17_2692+18insTTGT) c.1672+17_1672+18insTTGT (n.1672+17_1672+18insTTGT) c.2392+17_2392+18insTTGT (n.2392+17_2392+18insTTGT) c.2542+17_2542+18insTTGT (n.2542+17_2542+18insTTGT) c.2515+17_2515+18insTTGT (n.2515+17_2515+18insTTGT) | gnomAD v4 |
7 | g.150948426_150948427insACAC | CA2685602660 | KCNH2 | n.3525+17_3525+18insGTGT c.2692+17_2692+18insGTGT (n.2692+17_2692+18insGTGT) c.1672+17_1672+18insGTGT (n.1672+17_1672+18insGTGT) c.2392+17_2392+18insGTGT (n.2392+17_2392+18insGTGT) c.2542+17_2542+18insGTGT (n.2542+17_2542+18insGTGT) c.2515+17_2515+18insGTGT (n.2515+17_2515+18insGTGT) | gnomAD v4 |
7 | g.150948426_150948427insGCAA | CA2685602650 | KCNH2 | n.3525+17_3525+18insTTGC c.2692+17_2692+18insTTGC (n.2692+17_2692+18insTTGC) c.1672+17_1672+18insTTGC (n.1672+17_1672+18insTTGC) c.2392+17_2392+18insTTGC (n.2392+17_2392+18insTTGC) c.2542+17_2542+18insTTGC (n.2542+17_2542+18insTTGC) c.2515+17_2515+18insTTGC (n.2515+17_2515+18insTTGC) | gnomAD v4 |
7 | g.150948426_150948427insGCAC | CA2685602652 | KCNH2 | n.3525+17_3525+18insGTGC c.2692+17_2692+18insGTGC (n.2692+17_2692+18insGTGC) c.1672+17_1672+18insGTGC (n.1672+17_1672+18insGTGC) c.2392+17_2392+18insGTGC (n.2392+17_2392+18insGTGC) c.2542+17_2542+18insGTGC (n.2542+17_2542+18insGTGC) c.2515+17_2515+18insGTGC (n.2515+17_2515+18insGTGC) | gnomAD v4 |
7 | g.150948427C>A | CA034346 | KCNH2 | n.3525+17G>T c.2692+17G>T (n.2692+17G>T) c.1672+17G>T (n.1672+17G>T) c.2392+17G>T (n.2392+17G>T) c.2542+17G>T (n.2542+17G>T) c.2515+17G>T (n.2515+17G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948427C= | CA1752431171 | KCNH2 | n.3525+17G= c.2692+17G= (n.2692+17G=) c.1672+17G= (n.1672+17G=) c.2392+17G= (n.2392+17G=) c.2542+17G= (n.2542+17G=) c.2515+17G= (n.2515+17G=) | |
7 | g.150948427C>G | CA2685602656 | KCNH2 | n.3525+17G>C c.2692+17G>C (n.2692+17G>C) c.1672+17G>C (n.1672+17G>C) c.2392+17G>C (n.2392+17G>C) c.2542+17G>C (n.2542+17G>C) c.2515+17G>C (n.2515+17G>C) | gnomAD v4 |
7 | g.150948427C>T | CA034335 | KCNH2 | n.3525+17G>A c.2692+17G>A (n.2692+17G>A) c.1672+17G>A (n.1672+17G>A) c.2392+17G>A (n.2392+17G>A) c.2542+17G>A (n.2542+17G>A) c.2515+17G>A (n.2515+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948430_150948431insCCCCC | CA578701721 | KCNH2 | n.3525+17_3525+18insGGGGG c.2692+17_2692+18insGGGGG (n.2692+17_2692+18insGGGGG) c.1672+17_1672+18insGGGGG (n.1672+17_1672+18insGGGGG) c.2392+17_2392+18insGGGGG (n.2392+17_2392+18insGGGGG) c.2542+17_2542+18insGGGGG (n.2542+17_2542+18insGGGGG) c.2515+17_2515+18insGGGGG (n.2515+17_2515+18insGGGGG) | gnomAD v2 gnomAD v4 |
7 | g.150948430_150948431insCCCCCC | CA2685602651 | KCNH2 | n.3525+17_3525+18insGGGGGG c.2692+17_2692+18insGGGGGG (n.2692+17_2692+18insGGGGGG) c.1672+17_1672+18insGGGGGG (n.1672+17_1672+18insGGGGGG) c.2392+17_2392+18insGGGGGG (n.2392+17_2392+18insGGGGGG) c.2542+17_2542+18insGGGGGG (n.2542+17_2542+18insGGGGGG) c.2515+17_2515+18insGGGGGG (n.2515+17_2515+18insGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCC | CA1108704957 | KCNH2 | n.3525+17_3525+18insGGGGGGGGG c.2692+17_2692+18insGGGGGGGGG (n.2692+17_2692+18insGGGGGGGGG) c.1672+17_1672+18insGGGGGGGGG (n.1672+17_1672+18insGGGGGGGGG) c.2392+17_2392+18insGGGGGGGGG (n.2392+17_2392+18insGGGGGGGGG) c.2542+17_2542+18insGGGGGGGGG (n.2542+17_2542+18insGGGGGGGGG) c.2515+17_2515+18insGGGGGGGGG (n.2515+17_2515+18insGGGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCC | CA2685602659 | KCNH2 | n.3525+17_3525+18insGGGGGGGGGGG c.2692+17_2692+18insGGGGGGGGGGG (n.2692+17_2692+18insGGGGGGGGGGG) c.1672+17_1672+18insGGGGGGGGGGG (n.1672+17_1672+18insGGGGGGGGGGG) c.2392+17_2392+18insGGGGGGGGGGG (n.2392+17_2392+18insGGGGGGGGGGG) c.2542+17_2542+18insGGGGGGGGGGG (n.2542+17_2542+18insGGGGGGGGGGG) c.2515+17_2515+18insGGGGGGGGGGG (n.2515+17_2515+18insGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCC | CA2685602658 | KCNH2 | n.3525+17_3525+18insGGGGGGGGGGGGGG c.2692+17_2692+18insGGGGGGGGGGGGGG (n.2692+17_2692+18insGGGGGGGGGGGGGG) c.1672+17_1672+18insGGGGGGGGGGGGGG (n.1672+17_1672+18insGGGGGGGGGGGGGG) c.2392+17_2392+18insGGGGGGGGGGGGGG (n.2392+17_2392+18insGGGGGGGGGGGGGG) c.2542+17_2542+18insGGGGGGGGGGGGGG (n.2542+17_2542+18insGGGGGGGGGGGGGG) c.2515+17_2515+18insGGGGGGGGGGGGGG (n.2515+17_2515+18insGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCC | CA2685602657 | KCNH2 | n.3525+17_3525+18insGGGGGGGGGGGGGGG c.2692+17_2692+18insGGGGGGGGGGGGGGG (n.2692+17_2692+18insGGGGGGGGGGGGGGG) c.1672+17_1672+18insGGGGGGGGGGGGGGG (n.1672+17_1672+18insGGGGGGGGGGGGGGG) c.2392+17_2392+18insGGGGGGGGGGGGGGG (n.2392+17_2392+18insGGGGGGGGGGGGGGG) c.2542+17_2542+18insGGGGGGGGGGGGGGG (n.2542+17_2542+18insGGGGGGGGGGGGGGG) c.2515+17_2515+18insGGGGGGGGGGGGGGG (n.2515+17_2515+18insGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCTCCCCC | CA2685602648 | KCNH2 | n.3525+17_3525+18insGAGGGGGGGGGGGGG c.2692+17_2692+18insGAGGGGGGGGGGGGG (n.2692+17_2692+18insGAGGGGGGGGGGGGG) c.1672+17_1672+18insGAGGGGGGGGGGGGG (n.1672+17_1672+18insGAGGGGGGGGGGGGG) c.2392+17_2392+18insGAGGGGGGGGGGGGG (n.2392+17_2392+18insGAGGGGGGGGGGGGG) c.2542+17_2542+18insGAGGGGGGGGGGGGG (n.2542+17_2542+18insGAGGGGGGGGGGGGG) c.2515+17_2515+18insGAGGGGGGGGGGGGG (n.2515+17_2515+18insGAGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCCCCCC | CA2685602661 | KCNH2 | n.3525+17_3525+18insGGGGGGGGGGGGGGGGGGGG c.2692+17_2692+18insGGGGGGGGGGGGGGGGGGGG (n.2692+17_2692+18insGGGGGGGGGGGGGGGGGGGG) c.1672+17_1672+18insGGGGGGGGGGGGGGGGGGGG (n.1672+17_1672+18insGGGGGGGGGGGGGGGGGGGG) c.2392+17_2392+18insGGGGGGGGGGGGGGGGGGGG (n.2392+17_2392+18insGGGGGGGGGGGGGGGGGGGG) c.2542+17_2542+18insGGGGGGGGGGGGGGGGGGGG (n.2542+17_2542+18insGGGGGGGGGGGGGGGGGGGG) c.2515+17_2515+18insGGGGGGGGGGGGGGGGGGGG (n.2515+17_2515+18insGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCTTTTCCCCC | CA2685602647 | KCNH2 | n.3525+17_3525+18insGAAAAGGGGGGGGGGGGGGGGGGG c.2692+17_2692+18insGAAAAGGGGGGGGGGGGGGGGGGG (n.2692+17_2692+18insGAAAAGGGGGGGGGGGGGGGGGGG) c.1672+17_1672+18insGAAAAGGGGGGGGGGGGGGGGGGG (n.1672+17_1672+18insGAAAAGGGGGGGGGGGGGGGGGGG) c.2392+17_2392+18insGAAAAGGGGGGGGGGGGGGGGGGG (n.2392+17_2392+18insGAAAAGGGGGGGGGGGGGGGGGGG) c.2542+17_2542+18insGAAAAGGGGGGGGGGGGGGGGGGG (n.2542+17_2542+18insGAAAAGGGGGGGGGGGGGGGGGGG) c.2515+17_2515+18insGAAAAGGGGGGGGGGGGGGGGGGG (n.2515+17_2515+18insGAAAAGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430dup | CA578701729 | KCNH2 | n.3525+17dup c.2692+17dup (n.2692+17dup) c.1672+17dup (n.1672+17dup) c.2392+17dup (n.2392+17dup) c.2542+17dup (n.2542+17dup) c.2515+17dup (n.2515+17dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948429_150948430dup | CA1108704955 | KCNH2 | n.3525+16_3525+17dup c.2692+16_2692+17dup (n.2692+16_2692+17dup) c.1672+16_1672+17dup (n.1672+16_1672+17dup) c.2392+16_2392+17dup (n.2392+16_2392+17dup) c.2542+16_2542+17dup (n.2542+16_2542+17dup) c.2515+16_2515+17dup (n.2515+16_2515+17dup) | gnomAD v3 gnomAD v4 |
7 | g.150948428_150948430dup | CA578701725 | KCNH2 | n.3525+15_3525+17dup c.2692+15_2692+17dup (n.2692+15_2692+17dup) c.1672+15_1672+17dup (n.1672+15_1672+17dup) c.2392+15_2392+17dup (n.2392+15_2392+17dup) c.2542+15_2542+17dup (n.2542+15_2542+17dup) c.2515+15_2515+17dup (n.2515+15_2515+17dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948427_150948430dup | CA578701717 | KCNH2 | n.3525+14_3525+17dup c.2692+14_2692+17dup (n.2692+14_2692+17dup) c.1672+14_1672+17dup (n.1672+14_1672+17dup) c.2392+14_2392+17dup (n.2392+14_2392+17dup) c.2542+14_2542+17dup (n.2542+14_2542+17dup) c.2515+14_2515+17dup (n.2515+14_2515+17dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948430del | CA2685602653 | KCNH2 | n.3525+17del c.2692+17del (n.2692+17del) c.1672+17del (n.1672+17del) c.2392+17del (n.2392+17del) c.2542+17del (n.2542+17del) c.2515+17del (n.2515+17del) | gnomAD v4 |
7 | g.150948429_150948430del | CA2685602654 | KCNH2 | n.3525+16_3525+17del c.2692+16_2692+17del (n.2692+16_2692+17del) c.1672+16_1672+17del (n.1672+16_1672+17del) c.2392+16_2392+17del (n.2392+16_2392+17del) c.2542+16_2542+17del (n.2542+16_2542+17del) c.2515+16_2515+17del (n.2515+16_2515+17del) | gnomAD v4 |
7 | g.150948428_150948436dup | CA2685602649 | KCNH2 | n.3525+9_3525+17dup c.2692+9_2692+17dup (n.2692+9_2692+17dup) c.1672+9_1672+17dup (n.1672+9_1672+17dup) c.2392+9_2392+17dup (n.2392+9_2392+17dup) c.2542+9_2542+17dup (n.2542+9_2542+17dup) c.2515+9_2515+17dup (n.2515+9_2515+17dup) | gnomAD v4 |
7 | g.150948428_150948436del | CA2685602655 | KCNH2 | n.3525+9_3525+17del c.2692+9_2692+17del (n.2692+9_2692+17del) c.1672+9_1672+17del (n.1672+9_1672+17del) c.2392+9_2392+17del (n.2392+9_2392+17del) c.2542+9_2542+17del (n.2542+9_2542+17del) c.2515+9_2515+17del (n.2515+9_2515+17del) | gnomAD v4 |
7 | g.150948427_150948428insAA | CA2685602671 | KCNH2 | n.3525+16_3525+17insTT c.2692+16_2692+17insTT (n.2692+16_2692+17insTT) c.1672+16_1672+17insTT (n.1672+16_1672+17insTT) c.2392+16_2392+17insTT (n.2392+16_2392+17insTT) c.2542+16_2542+17insTT (n.2542+16_2542+17insTT) c.2515+16_2515+17insTT (n.2515+16_2515+17insTT) | gnomAD v4 |
7 | g.150948427_150948428insAACAA | CA2685602670 | KCNH2 | n.3525+16_3525+17insTTGTT c.2692+16_2692+17insTTGTT (n.2692+16_2692+17insTTGTT) c.1672+16_1672+17insTTGTT (n.1672+16_1672+17insTTGTT) c.2392+16_2392+17insTTGTT (n.2392+16_2392+17insTTGTT) c.2542+16_2542+17insTTGTT (n.2542+16_2542+17insTTGTT) c.2515+16_2515+17insTTGTT (n.2515+16_2515+17insTTGTT) | gnomAD v4 |
7 | g.150948427_150948428insGACAA | CA2685602668 | KCNH2 | n.3525+16_3525+17insTTGTC c.2692+16_2692+17insTTGTC (n.2692+16_2692+17insTTGTC) c.1672+16_1672+17insTTGTC (n.1672+16_1672+17insTTGTC) c.2392+16_2392+17insTTGTC (n.2392+16_2392+17insTTGTC) c.2542+16_2542+17insTTGTC (n.2542+16_2542+17insTTGTC) c.2515+16_2515+17insTTGTC (n.2515+16_2515+17insTTGTC) | gnomAD v4 |
7 | g.150948428C>A | CA2685602667 | KCNH2 | n.3525+16G>T c.2692+16G>T (n.2692+16G>T) c.1672+16G>T (n.1672+16G>T) c.2392+16G>T (n.2392+16G>T) c.2542+16G>T (n.2542+16G>T) c.2515+16G>T (n.2515+16G>T) | gnomAD v4 |
7 | g.150948428C>G | CA2685602666 | KCNH2 | n.3525+16G>C c.2692+16G>C (n.2692+16G>C) c.1672+16G>C (n.1672+16G>C) c.2392+16G>C (n.2392+16G>C) c.2542+16G>C (n.2542+16G>C) c.2515+16G>C (n.2515+16G>C) | gnomAD v4 |
7 | g.150948428C>T | CA2685602665 | KCNH2 | n.3525+16G>A c.2692+16G>A (n.2692+16G>A) c.1672+16G>A (n.1672+16G>A) c.2392+16G>A (n.2392+16G>A) c.2542+16G>A (n.2542+16G>A) c.2515+16G>A (n.2515+16G>A) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCACCC | CA2685602664 | KCNH2 | n.3525+16_3525+17insTGGGGGGGGGGGGGG c.2692+16_2692+17insTGGGGGGGGGGGGGG (n.2692+16_2692+17insTGGGGGGGGGGGGGG) c.1672+16_1672+17insTGGGGGGGGGGGGGG (n.1672+16_1672+17insTGGGGGGGGGGGGGG) c.2392+16_2392+17insTGGGGGGGGGGGGGG (n.2392+16_2392+17insTGGGGGGGGGGGGGG) c.2542+16_2542+17insTGGGGGGGGGGGGGG (n.2542+16_2542+17insTGGGGGGGGGGGGGG) c.2515+16_2515+17insTGGGGGGGGGGGGGG (n.2515+16_2515+17insTGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCCCCCCCACCC | CA2685602669 | KCNH2 | n.3525+16_3525+17insTGGGGGGGGGGGGGGGGGGGGGGGG c.2692+16_2692+17insTGGGGGGGGGGGGGGGGGGGGGGGG (n.2692+16_2692+17insTGGGGGGGGGGGGGGGGGGGGGGGG) c.1672+16_1672+17insTGGGGGGGGGGGGGGGGGGGGGGGG (n.1672+16_1672+17insTGGGGGGGGGGGGGGGGGGGGGGGG) c.2392+16_2392+17insTGGGGGGGGGGGGGGGGGGGGGGGG (n.2392+16_2392+17insTGGGGGGGGGGGGGGGGGGGGGGGG) c.2542+16_2542+17insTGGGGGGGGGGGGGGGGGGGGGGGG (n.2542+16_2542+17insTGGGGGGGGGGGGGGGGGGGGGGGG) c.2515+16_2515+17insTGGGGGGGGGGGGGGGGGGGGGGGG (n.2515+16_2515+17insTGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948429C>A | CA2685602672 | KCNH2 | n.3525+15G>T c.2692+15G>T (n.2692+15G>T) c.1672+15G>T (n.1672+15G>T) c.2392+15G>T (n.2392+15G>T) c.2542+15G>T (n.2542+15G>T) c.2515+15G>T (n.2515+15G>T) | gnomAD v4 |
7 | g.150948429C>T | CA2685602673 | KCNH2 | n.3525+15G>A c.2692+15G>A (n.2692+15G>A) c.1672+15G>A (n.1672+15G>A) c.2392+15G>A (n.2392+15G>A) c.2542+15G>A (n.2542+15G>A) c.2515+15G>A (n.2515+15G>A) | gnomAD v4 |
7 | g.150948429_150948430insAA | CA2685602674 | KCNH2 | n.3525+14_3525+15insTT c.2692+14_2692+15insTT (n.2692+14_2692+15insTT) c.1672+14_1672+15insTT (n.1672+14_1672+15insTT) c.2392+14_2392+15insTT (n.2392+14_2392+15insTT) c.2542+14_2542+15insTT (n.2542+14_2542+15insTT) c.2515+14_2515+15insTT (n.2515+14_2515+15insTT) | gnomAD v4 |
7 | g.150948429_150948430insAG | CA2685602676 | KCNH2 | n.3525+14_3525+15insCT c.2692+14_2692+15insCT (n.2692+14_2692+15insCT) c.1672+14_1672+15insCT (n.1672+14_1672+15insCT) c.2392+14_2392+15insCT (n.2392+14_2392+15insCT) c.2542+14_2542+15insCT (n.2542+14_2542+15insCT) c.2515+14_2515+15insCT (n.2515+14_2515+15insCT) | gnomAD v4 |
7 | g.150948430C>A | CA034317 | KCNH2 | n.3525+14G>T c.2692+14G>T (n.2692+14G>T) c.1672+14G>T (n.1672+14G>T) c.2392+14G>T (n.2392+14G>T) c.2542+14G>T (n.2542+14G>T) c.2515+14G>T (n.2515+14G>T) | dbSNP ExAC gnomAD v4 |
7 | g.150948430C= | CA1752431179 | KCNH2 | n.3525+14G= c.2692+14G= (n.2692+14G=) c.1672+14G= (n.1672+14G=) c.2392+14G= (n.2392+14G=) c.2542+14G= (n.2542+14G=) c.2515+14G= (n.2515+14G=) | |
7 | g.150948430C>G | CA2685602675 | KCNH2 | n.3525+14G>C c.2692+14G>C (n.2692+14G>C) c.1672+14G>C (n.1672+14G>C) c.2392+14G>C (n.2392+14G>C) c.2542+14G>C (n.2542+14G>C) c.2515+14G>C (n.2515+14G>C) | gnomAD v4 |
7 | g.150948430C>T | CA578701732 | KCNH2 | n.3525+14G>A c.2692+14G>A (n.2692+14G>A) c.1672+14G>A (n.1672+14G>A) c.2392+14G>A (n.2392+14G>A) c.2542+14G>A (n.2542+14G>A) c.2515+14G>A (n.2515+14G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948430_150948431delinsCT | CA1752431180 | KCNH2 | n.3525+13_3525+14delinsAG c.2692+13_2692+14delinsAG (n.2692+13_2692+14delinsAG) c.1672+13_1672+14delinsAG (n.1672+13_1672+14delinsAG) c.2392+13_2392+14delinsAG (n.2392+13_2392+14delinsAG) c.2542+13_2542+14delinsAG (n.2542+13_2542+14delinsAG) c.2515+13_2515+14delinsAG (n.2515+13_2515+14delinsAG) | |
7 | g.150948430_150948431insCCCCCCCCCCA | CA2685602680 | KCNH2 | n.3525+13_3525+14insTGGGGGGGGGG c.2692+13_2692+14insTGGGGGGGGGG (n.2692+13_2692+14insTGGGGGGGGGG) c.1672+13_1672+14insTGGGGGGGGGG (n.1672+13_1672+14insTGGGGGGGGGG) c.2392+13_2392+14insTGGGGGGGGGG (n.2392+13_2392+14insTGGGGGGGGGG) c.2542+13_2542+14insTGGGGGGGGGG (n.2542+13_2542+14insTGGGGGGGGGG) c.2515+13_2515+14insTGGGGGGGGGG (n.2515+13_2515+14insTGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCTT | CA2685602678 | KCNH2 | n.3525+13_3525+14insAAGGGGGGGGGGGGGGG c.2692+13_2692+14insAAGGGGGGGGGGGGGGG (n.2692+13_2692+14insAAGGGGGGGGGGGGGGG) c.1672+13_1672+14insAAGGGGGGGGGGGGGGG (n.1672+13_1672+14insAAGGGGGGGGGGGGGGG) c.2392+13_2392+14insAAGGGGGGGGGGGGGGG (n.2392+13_2392+14insAAGGGGGGGGGGGGGGG) c.2542+13_2542+14insAAGGGGGGGGGGGGGGG (n.2542+13_2542+14insAAGGGGGGGGGGGGGGG) c.2515+13_2515+14insAAGGGGGGGGGGGGGGG (n.2515+13_2515+14insAAGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCCCT | CA1108704967 | KCNH2 | n.3525+13_3525+14insAGGGGGGGGGGGGGGGGG c.2692+13_2692+14insAGGGGGGGGGGGGGGGGG (n.2692+13_2692+14insAGGGGGGGGGGGGGGGGG) c.1672+13_1672+14insAGGGGGGGGGGGGGGGGG (n.1672+13_1672+14insAGGGGGGGGGGGGGGGGG) c.2392+13_2392+14insAGGGGGGGGGGGGGGGGG (n.2392+13_2392+14insAGGGGGGGGGGGGGGGGG) c.2542+13_2542+14insAGGGGGGGGGGGGGGGGG (n.2542+13_2542+14insAGGGGGGGGGGGGGGGGG) c.2515+13_2515+14insAGGGGGGGGGGGGGGGGG (n.2515+13_2515+14insAGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948430_150948431insCCCCCCCCCCCCCCCCCCT | CA2685602677 | KCNH2 | n.3525+13_3525+14insAGGGGGGGGGGGGGGGGGG c.2692+13_2692+14insAGGGGGGGGGGGGGGGGGG (n.2692+13_2692+14insAGGGGGGGGGGGGGGGGGG) c.1672+13_1672+14insAGGGGGGGGGGGGGGGGGG (n.1672+13_1672+14insAGGGGGGGGGGGGGGGGGG) c.2392+13_2392+14insAGGGGGGGGGGGGGGGGGG (n.2392+13_2392+14insAGGGGGGGGGGGGGGGGGG) c.2542+13_2542+14insAGGGGGGGGGGGGGGGGGG (n.2542+13_2542+14insAGGGGGGGGGGGGGGGGGG) c.2515+13_2515+14insAGGGGGGGGGGGGGGGGGG (n.2515+13_2515+14insAGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948431del | CA578701737 | KCNH2 | n.3525+13del c.2692+13del (n.2692+13del) c.1672+13del (n.1672+13del) c.2392+13del (n.2392+13del) c.2542+13del (n.2542+13del) c.2515+13del (n.2515+13del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948431T>A | CA034306 | KCNH2 | n.3525+13A>T c.2692+13A>T (n.2692+13A>T) c.1672+13A>T (n.1672+13A>T) c.2392+13A>T (n.2392+13A>T) c.2542+13A>T (n.2542+13A>T) c.2515+13A>T (n.2515+13A>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.150948431T>C | CA034296 | KCNH2 | n.3525+13A>G c.2692+13A>G (n.2692+13A>G) c.1672+13A>G (n.1672+13A>G) c.2392+13A>G (n.2392+13A>G) c.2542+13A>G (n.2542+13A>G) c.2515+13A>G (n.2515+13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948431T>G | CA2685602679 | KCNH2 | n.3525+13A>C c.2692+13A>C (n.2692+13A>C) c.1672+13A>C (n.1672+13A>C) c.2392+13A>C (n.2392+13A>C) c.2542+13A>C (n.2542+13A>C) c.2515+13A>C (n.2515+13A>C) | gnomAD v4 |
7 | g.150948431T= | CA1752431187 | KCNH2 | n.3525+13A= c.2692+13A= (n.2692+13A=) c.1672+13A= (n.1672+13A=) c.2392+13A= (n.2392+13A=) c.2542+13A= (n.2542+13A=) c.2515+13A= (n.2515+13A=) | |
7 | g.150948431_150948437del | CA578701739 | KCNH2 | n.3525+7_3525+13del c.2692+7_2692+13del (n.2692+7_2692+13del) c.1672+7_1672+13del (n.1672+7_1672+13del) c.2392+7_2392+13del (n.2392+7_2392+13del) c.2542+7_2542+13del (n.2542+7_2542+13del) c.2515+7_2515+13del (n.2515+7_2515+13del) | gnomAD v2 gnomAD v4 |
7 | g.150948432C>A | CA2685602682 | KCNH2 | n.3525+12G>T c.2692+12G>T (n.2692+12G>T) c.1672+12G>T (n.1672+12G>T) c.2392+12G>T (n.2392+12G>T) c.2542+12G>T (n.2542+12G>T) c.2515+12G>T (n.2515+12G>T) | ClinVar gnomAD v4 |
7 | g.150948432C= | CA1752431195 | KCNH2 | n.3525+12G= c.2692+12G= (n.2692+12G=) c.1672+12G= (n.1672+12G=) c.2392+12G= (n.2392+12G=) c.2542+12G= (n.2542+12G=) c.2515+12G= (n.2515+12G=) | |
7 | g.150948432C>T | CA2685602681 | KCNH2 | n.3525+12G>A c.2692+12G>A (n.2692+12G>A) c.1672+12G>A (n.1672+12G>A) c.2392+12G>A (n.2392+12G>A) c.2542+12G>A (n.2542+12G>A) c.2515+12G>A (n.2515+12G>A) | gnomAD v4 |
7 | g.150948436_150948437insCCCCCC | CA578701752 | KCNH2 | n.3525+12_3525+13insGGGGGG c.2692+12_2692+13insGGGGGG (n.2692+12_2692+13insGGGGGG) c.1672+12_1672+13insGGGGGG (n.1672+12_1672+13insGGGGGG) c.2392+12_2392+13insGGGGGG (n.2392+12_2392+13insGGGGGG) c.2542+12_2542+13insGGGGGG (n.2542+12_2542+13insGGGGGG) c.2515+12_2515+13insGGGGGG (n.2515+12_2515+13insGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948436_150948437insCCCCCCCC | CA578701749 | KCNH2 | n.3525+12_3525+13insGGGGGGGG c.2692+12_2692+13insGGGGGGGG (n.2692+12_2692+13insGGGGGGGG) c.1672+12_1672+13insGGGGGGGG (n.1672+12_1672+13insGGGGGGGG) c.2392+12_2392+13insGGGGGGGG (n.2392+12_2392+13insGGGGGGGG) c.2542+12_2542+13insGGGGGGGG (n.2542+12_2542+13insGGGGGGGG) c.2515+12_2515+13insGGGGGGGG (n.2515+12_2515+13insGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948436_150948437insCCCCCCCCC | CA1108704971 | KCNH2 | n.3525+12_3525+13insGGGGGGGGG c.2692+12_2692+13insGGGGGGGGG (n.2692+12_2692+13insGGGGGGGGG) c.1672+12_1672+13insGGGGGGGGG (n.1672+12_1672+13insGGGGGGGGG) c.2392+12_2392+13insGGGGGGGGG (n.2392+12_2392+13insGGGGGGGGG) c.2542+12_2542+13insGGGGGGGGG (n.2542+12_2542+13insGGGGGGGGG) c.2515+12_2515+13insGGGGGGGGG (n.2515+12_2515+13insGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948436_150948437insCCCCCCCCCC | CA2685602684 | KCNH2 | n.3525+12_3525+13insGGGGGGGGGG c.2692+12_2692+13insGGGGGGGGGG (n.2692+12_2692+13insGGGGGGGGGG) c.1672+12_1672+13insGGGGGGGGGG (n.1672+12_1672+13insGGGGGGGGGG) c.2392+12_2392+13insGGGGGGGGGG (n.2392+12_2392+13insGGGGGGGGGG) c.2542+12_2542+13insGGGGGGGGGG (n.2542+12_2542+13insGGGGGGGGGG) c.2515+12_2515+13insGGGGGGGGGG (n.2515+12_2515+13insGGGGGGGGGG) | gnomAD v4 |
7 | g.150948436dup | CA2685602686 | KCNH2 | n.3525+12dup c.2692+12dup (n.2692+12dup) c.1672+12dup (n.1672+12dup) c.2392+12dup (n.2392+12dup) c.2542+12dup (n.2542+12dup) c.2515+12dup (n.2515+12dup) | gnomAD v4 |
7 | g.150948435_150948436dup | CA2685602685 | KCNH2 | n.3525+11_3525+12dup c.2692+11_2692+12dup (n.2692+11_2692+12dup) c.1672+11_1672+12dup (n.1672+11_1672+12dup) c.2392+11_2392+12dup (n.2392+11_2392+12dup) c.2542+11_2542+12dup (n.2542+11_2542+12dup) c.2515+11_2515+12dup (n.2515+11_2515+12dup) | gnomAD v4 |
7 | g.150948433_150948436dup | CA578701755 | KCNH2 | n.3525+9_3525+12dup c.2692+9_2692+12dup (n.2692+9_2692+12dup) c.1672+9_1672+12dup (n.1672+9_1672+12dup) c.2392+9_2392+12dup (n.2392+9_2392+12dup) c.2542+9_2542+12dup (n.2542+9_2542+12dup) c.2515+9_2515+12dup (n.2515+9_2515+12dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948432_150948436dup | CA578701757 | KCNH2 | n.3525+8_3525+12dup c.2692+8_2692+12dup (n.2692+8_2692+12dup) c.1672+8_1672+12dup (n.1672+8_1672+12dup) c.2392+8_2392+12dup (n.2392+8_2392+12dup) c.2542+8_2542+12dup (n.2542+8_2542+12dup) c.2515+8_2515+12dup (n.2515+8_2515+12dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948436del | CA2685602683 | KCNH2 | n.3525+12del c.2692+12del (n.2692+12del) c.1672+12del (n.1672+12del) c.2392+12del (n.2392+12del) c.2542+12del (n.2542+12del) c.2515+12del (n.2515+12del) | gnomAD v4 |
7 | g.150948433C>A | CA2685602687 | KCNH2 | n.3525+11G>T c.2692+11G>T (n.2692+11G>T) c.1672+11G>T (n.1672+11G>T) c.2392+11G>T (n.2392+11G>T) c.2542+11G>T (n.2542+11G>T) c.2515+11G>T (n.2515+11G>T) | gnomAD v4 |
7 | g.150948433C= | CA1752431196 | KCNH2 | n.3525+11G= c.2692+11G= (n.2692+11G=) c.1672+11G= (n.1672+11G=) c.2392+11G= (n.2392+11G=) c.2542+11G= (n.2542+11G=) c.2515+11G= (n.2515+11G=) | |
7 | g.150948433C>T | CA578701763 | KCNH2 | n.3525+11G>A c.2692+11G>A (n.2692+11G>A) c.1672+11G>A (n.1672+11G>A) c.2392+11G>A (n.2392+11G>A) c.2542+11G>A (n.2542+11G>A) c.2515+11G>A (n.2515+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948433_150948448dup | CA4566422 | KCNH2 | n.3521_3525+11dup c.2688_2692+11dup c.1668_1672+11dup c.2388_2392+11dup c.2538_2542+11dup c.2511_2515+11dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948434C>A | CA2685602688 | KCNH2 | n.3525+10G>T c.2692+10G>T (n.2692+10G>T) c.1672+10G>T (n.1672+10G>T) c.2392+10G>T (n.2392+10G>T) c.2542+10G>T (n.2542+10G>T) c.2515+10G>T (n.2515+10G>T) | gnomAD v4 |
7 | g.150948434C= | CA1752431197 | KCNH2 | n.3525+10G= c.2692+10G= (n.2692+10G=) c.1672+10G= (n.1672+10G=) c.2392+10G= (n.2392+10G=) c.2542+10G= (n.2542+10G=) c.2515+10G= (n.2515+10G=) | |
7 | g.150948434C>T | CA578701766 | KCNH2 | n.3525+10G>A c.2692+10G>A (n.2692+10G>A) c.1672+10G>A (n.1672+10G>A) c.2392+10G>A (n.2392+10G>A) c.2542+10G>A (n.2542+10G>A) c.2515+10G>A (n.2515+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948435C>A | CA2685602689 | KCNH2 | n.3525+9G>T c.2692+9G>T (n.2692+9G>T) c.1672+9G>T (n.1672+9G>T) c.2392+9G>T (n.2392+9G>T) c.2542+9G>T (n.2542+9G>T) c.2515+9G>T (n.2515+9G>T) | gnomAD v4 |
7 | g.150948435C>T | CA2685602690 | KCNH2 | n.3525+9G>A c.2692+9G>A (n.2692+9G>A) c.1672+9G>A (n.1672+9G>A) c.2392+9G>A (n.2392+9G>A) c.2542+9G>A (n.2542+9G>A) c.2515+9G>A (n.2515+9G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.150948436C>A | CA2685602691 | KCNH2 | n.3525+8G>T c.2692+8G>T (n.2692+8G>T) c.1672+8G>T (n.1672+8G>T) c.2392+8G>T (n.2392+8G>T) c.2542+8G>T (n.2542+8G>T) c.2515+8G>T (n.2515+8G>T) | gnomAD v4 |
7 | g.150948436C= | CA1752431202 | KCNH2 | n.3525+8G= c.2692+8G= (n.2692+8G=) c.1672+8G= (n.1672+8G=) c.2392+8G= (n.2392+8G=) c.2542+8G= (n.2542+8G=) c.2515+8G= (n.2515+8G=) | |
7 | g.150948436C>G | CA034536 | KCNH2 | n.3525+8G>C c.2692+8G>C (n.2692+8G>C) c.1672+8G>C (n.1672+8G>C) c.2392+8G>C (n.2392+8G>C) c.2542+8G>C (n.2542+8G>C) c.2515+8G>C (n.2515+8G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948436C>T | CA034522 | KCNH2 | n.3525+8G>A c.2692+8G>A (n.2692+8G>A) c.1672+8G>A (n.1672+8G>A) c.2392+8G>A (n.2392+8G>A) c.2542+8G>A (n.2542+8G>A) c.2515+8G>A (n.2515+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948436_150948437insCCCCCCCCCCTTTCCCTGC | CA2685602692 | KCNH2 | n.3525+8_3525+9insCAGGGAAAGGGGGGGGGGG c.2692+8_2692+9insCAGGGAAAGGGGGGGGGGG (n.2692+8_2692+9insCAGGGAAAGGGGGGGGGGG) c.1672+8_1672+9insCAGGGAAAGGGGGGGGGGG (n.1672+8_1672+9insCAGGGAAAGGGGGGGGGGG) c.2392+8_2392+9insCAGGGAAAGGGGGGGGGGG (n.2392+8_2392+9insCAGGGAAAGGGGGGGGGGG) c.2542+8_2542+9insCAGGGAAAGGGGGGGGGGG (n.2542+8_2542+9insCAGGGAAAGGGGGGGGGGG) c.2515+8_2515+9insCAGGGAAAGGGGGGGGGGG (n.2515+8_2515+9insCAGGGAAAGGGGGGGGGGG) | gnomAD v4 |
7 | g.150948436_150948437delinsCG | CA1752431203 | KCNH2 | n.3525+7_3525+8delinsCG c.2692+7_2692+8delinsCG (n.2692+7_2692+8delinsCG) c.1672+7_1672+8delinsCG (n.1672+7_1672+8delinsCG) c.2392+7_2392+8delinsCG (n.2392+7_2392+8delinsCG) c.2542+7_2542+8delinsCG (n.2542+7_2542+8delinsCG) c.2515+7_2515+8delinsCG (n.2515+7_2515+8delinsCG) | |
7 | g.150948437_150948443del | CA2840141026 | KCNH2 | n.3525+2_3525+8del c.2692+2_2692+8del (n.2692+2_2692+8del) c.1672+2_1672+8del (n.1672+2_1672+8del) c.2392+2_2392+8del (n.2392+2_2392+8del) c.2542+2_2542+8del (n.2542+2_2542+8del) c.2515+2_2515+8del (n.2515+2_2515+8del) | |
7 | g.150948436_150948437insT | CA2685602694 | KCNH2 | n.3525+7_3525+8insA c.2692+7_2692+8insA (n.2692+7_2692+8insA) c.1672+7_1672+8insA (n.1672+7_1672+8insA) c.2392+7_2392+8insA (n.2392+7_2392+8insA) c.2542+7_2542+8insA (n.2542+7_2542+8insA) c.2515+7_2515+8insA (n.2515+7_2515+8insA) | gnomAD v4 |
7 | g.150948437del | CA578701781 | KCNH2 | n.3525+7del c.2692+7del (n.2692+7del) c.1672+7del (n.1672+7del) c.2392+7del (n.2392+7del) c.2542+7del (n.2542+7del) c.2515+7del (n.2515+7del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948437G>A | CA034512 | KCNH2 | n.3525+7C>T c.2692+7C>T (n.2692+7C>T) c.1672+7C>T (n.1672+7C>T) c.2392+7C>T (n.2392+7C>T) c.2542+7C>T (n.2542+7C>T) c.2515+7C>T (n.2515+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948437G>C | CA034501 | KCNH2 | n.3525+7C>G c.2692+7C>G (n.2692+7C>G) c.1672+7C>G (n.1672+7C>G) c.2392+7C>G (n.2392+7C>G) c.2542+7C>G (n.2542+7C>G) c.2515+7C>G (n.2515+7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948437G= | CA1752431210 | KCNH2 | n.3525+7C= c.2692+7C= (n.2692+7C=) c.1672+7C= (n.1672+7C=) c.2392+7C= (n.2392+7C=) c.2542+7C= (n.2542+7C=) c.2515+7C= (n.2515+7C=) | |
7 | g.150948437G>T | CA2685602693 | KCNH2 | n.3525+7C>A c.2692+7C>A (n.2692+7C>A) c.1672+7C>A (n.1672+7C>A) c.2392+7C>A (n.2392+7C>A) c.2542+7C>A (n.2542+7C>A) c.2515+7C>A (n.2515+7C>A) | gnomAD v4 |
7 | g.150948437_150948440del | CA1108704981 | KCNH2 | n.3525+4_3525+7del c.2692+4_2692+7del (n.2692+4_2692+7del) c.1672+4_1672+7del (n.1672+4_1672+7del) c.2392+4_2392+7del (n.2392+4_2392+7del) c.2542+4_2542+7del (n.2542+4_2542+7del) c.2515+4_2515+7del (n.2515+4_2515+7del) | |
7 | g.150948437_150948442del | CA578701784 | KCNH2 | n.3525+2_3525+7del c.2692+2_2692+7del (n.2692+2_2692+7del) c.1672+2_1672+7del (n.1672+2_1672+7del) c.2392+2_2392+7del (n.2392+2_2392+7del) c.2542+2_2542+7del (n.2542+2_2542+7del) c.2515+2_2515+7del (n.2515+2_2515+7del) | gnomAD v2 gnomAD v4 |
7 | g.150948438C= | CA1752431213 | KCNH2 | n.3525+6G= c.2692+6G= (n.2692+6G=) c.1672+6G= (n.1672+6G=) c.2392+6G= (n.2392+6G=) c.2542+6G= (n.2542+6G=) c.2515+6G= (n.2515+6G=) | |
7 | g.150948438C>G | CA2685602697 | KCNH2 | n.3525+6G>C c.2692+6G>C (n.2692+6G>C) c.1672+6G>C (n.1672+6G>C) c.2392+6G>C (n.2392+6G>C) c.2542+6G>C (n.2542+6G>C) c.2515+6G>C (n.2515+6G>C) | gnomAD v4 |
7 | g.150948438C>T | CA578701790 | KCNH2 | n.3525+6G>A c.2692+6G>A (n.2692+6G>A) c.1672+6G>A (n.1672+6G>A) c.2392+6G>A (n.2392+6G>A) c.2542+6G>A (n.2542+6G>A) c.2515+6G>A (n.2515+6G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948439_150948441del | CA2685602695 | KCNH2 | n.3525+4_3525+6del c.2692+4_2692+6del (n.2692+4_2692+6del) c.1672+4_1672+6del (n.1672+4_1672+6del) c.2392+4_2392+6del (n.2392+4_2392+6del) c.2542+4_2542+6del (n.2542+4_2542+6del) c.2515+4_2515+6del (n.2515+4_2515+6del) | gnomAD v4 |
7 | g.150948438_150948446del | CA2685602696 | KCNH2 | n.3523_3525+6del c.2690_2692+6del c.1670_1672+6del c.2390_2392+6del c.2540_2542+6del c.2513_2515+6del | gnomAD v4 |
7 | g.150948439C>A | CA16605725 | KCNH2 | n.3525+5G>T c.2692+5G>T (n.2692+5G>T) c.1672+5G>T (n.1672+5G>T) c.2392+5G>T (n.2392+5G>T) c.2542+5G>T (n.2542+5G>T) c.2515+5G>T (n.2515+5G>T) | ClinVar dbSNP |
7 | g.150948439C= | CA1752431217 | KCNH2 | n.3525+5G= c.2692+5G= (n.2692+5G=) c.1672+5G= (n.1672+5G=) c.2392+5G= (n.2392+5G=) c.2542+5G= (n.2542+5G=) c.2515+5G= (n.2515+5G=) | |
7 | g.150948439C>T | CA2685602698 | KCNH2 | n.3525+5G>A c.2692+5G>A (n.2692+5G>A) c.1672+5G>A (n.1672+5G>A) c.2392+5G>A (n.2392+5G>A) c.2542+5G>A (n.2542+5G>A) c.2515+5G>A (n.2515+5G>A) | gnomAD v4 |
7 | g.150948439_150948442delinsCTCA | CA1752431218 | KCNH2 | n.3525+2_3525+5delinsTGAG c.2692+2_2692+5delinsTGAG (n.2692+2_2692+5delinsTGAG) c.1672+2_1672+5delinsTGAG (n.1672+2_1672+5delinsTGAG) c.2392+2_2392+5delinsTGAG (n.2392+2_2392+5delinsTGAG) c.2542+2_2542+5delinsTGAG (n.2542+2_2542+5delinsTGAG) c.2515+2_2515+5delinsTGAG (n.2515+2_2515+5delinsTGAG) | |
7 | g.150948439_150948440insCCCCCCTT | CA2685602700 | KCNH2 | n.3525+4_3525+5insAAGGGGGG c.2692+4_2692+5insAAGGGGGG (n.2692+4_2692+5insAAGGGGGG) c.1672+4_1672+5insAAGGGGGG (n.1672+4_1672+5insAAGGGGGG) c.2392+4_2392+5insAAGGGGGG (n.2392+4_2392+5insAAGGGGGG) c.2542+4_2542+5insAAGGGGGG (n.2542+4_2542+5insAAGGGGGG) c.2515+4_2515+5insAAGGGGGG (n.2515+4_2515+5insAAGGGGGG) | gnomAD v4 |
7 | g.150948439_150948440insCCCCCCCTT | CA1108704986 | KCNH2 | n.3525+4_3525+5insAAGGGGGGG c.2692+4_2692+5insAAGGGGGGG (n.2692+4_2692+5insAAGGGGGGG) c.1672+4_1672+5insAAGGGGGGG (n.1672+4_1672+5insAAGGGGGGG) c.2392+4_2392+5insAAGGGGGGG (n.2392+4_2392+5insAAGGGGGGG) c.2542+4_2542+5insAAGGGGGGG (n.2542+4_2542+5insAAGGGGGGG) c.2515+4_2515+5insAAGGGGGGG (n.2515+4_2515+5insAAGGGGGGG) | gnomAD v3 gnomAD v4 |
7 | g.150948440T>A | CA2605591269 | KCNH2 | n.3525+4A>T c.2692+4A>T (n.2692+4A>T) c.1672+4A>T (n.1672+4A>T) c.2392+4A>T (n.2392+4A>T) c.2542+4A>T (n.2542+4A>T) c.2515+4A>T (n.2515+4A>T) | gnomAD v3 gnomAD v4 |
7 | g.150948440T>C | CA578701796 | KCNH2 | n.3525+4A>G c.2692+4A>G (n.2692+4A>G) c.1672+4A>G (n.1672+4A>G) c.2392+4A>G (n.2392+4A>G) c.2542+4A>G (n.2542+4A>G) c.2515+4A>G (n.2515+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948440T>G | CA2685602699 | KCNH2 | n.3525+4A>C c.2692+4A>C (n.2692+4A>C) c.1672+4A>C (n.1672+4A>C) c.2392+4A>C (n.2392+4A>C) c.2542+4A>C (n.2542+4A>C) c.2515+4A>C (n.2515+4A>C) | gnomAD v4 |
7 | g.150948440T= | CA1752431219 | KCNH2 | n.3525+4A= c.2692+4A= (n.2692+4A=) c.1672+4A= (n.1672+4A=) c.2392+4A= (n.2392+4A=) c.2542+4A= (n.2542+4A=) c.2515+4A= (n.2515+4A=) | |
7 | g.150948440_150948442del | CA578701792 | KCNH2 | n.3525+2_3525+4del c.2692+2_2692+4del (n.2692+2_2692+4del) c.1672+2_1672+4del (n.1672+2_1672+4del) c.2392+2_2392+4del (n.2392+2_2392+4del) c.2542+2_2542+4del (n.2542+2_2542+4del) c.2515+2_2515+4del (n.2515+2_2515+4del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948441C>A | CA2685602701 | KCNH2 | n.3525+3G>T c.2692+3G>T (n.2692+3G>T) c.1672+3G>T (n.1672+3G>T) c.2392+3G>T (n.2392+3G>T) c.2542+3G>T (n.2542+3G>T) c.2515+3G>T (n.2515+3G>T) | gnomAD v4 |
7 | g.150948441C>T | CA2509684766 | KCNH2 | n.3525+3G>A c.2692+3G>A (n.2692+3G>A) c.1672+3G>A (n.1672+3G>A) c.2392+3G>A (n.2392+3G>A) c.2542+3G>A (n.2542+3G>A) c.2515+3G>A (n.2515+3G>A) | gnomAD v4 |
7 | g.150948442A= | CA1752431223 | KCNH2 | n.3525+2T= c.2692+2T= (n.2692+2T=) c.1672+2T= (n.1672+2T=) c.2392+2T= (n.2392+2T=) c.2542+2T= (n.2542+2T=) c.2515+2T= (n.2515+2T=) | |
7 | g.150948442A>C | CA369853593 | KCNH2 | n.3525+2T>G c.2692+2T>G (n.2692+2T>G) c.1672+2T>G (n.1672+2T>G) c.2392+2T>G (n.2392+2T>G) c.2542+2T>G (n.2542+2T>G) c.2515+2T>G (n.2515+2T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948442A>G | CA369853594 | KCNH2 | n.3525+2T>C c.2692+2T>C (n.2692+2T>C) c.1672+2T>C (n.1672+2T>C) c.2392+2T>C (n.2392+2T>C) c.2542+2T>C (n.2542+2T>C) c.2515+2T>C (n.2515+2T>C) | gnomAD v4 |
7 | g.150948442A>T | CA369853596 | KCNH2 | n.3525+2T>A c.2692+2T>A (n.2692+2T>A) c.1672+2T>A (n.1672+2T>A) c.2392+2T>A (n.2392+2T>A) c.2542+2T>A (n.2542+2T>A) c.2515+2T>A (n.2515+2T>A) | gnomAD v4 |
7 | g.150948443C>A | CA369853597 | KCNH2 | n.3525+1G>T c.2692+1G>T (n.2692+1G>T) c.1672+1G>T (n.1672+1G>T) c.2392+1G>T (n.2392+1G>T) c.2542+1G>T (n.2542+1G>T) c.2515+1G>T (n.2515+1G>T) | gnomAD v4 |
7 | g.150948443C= | CA1752431229 | KCNH2 | n.3525+1G= c.2692+1G= (n.2692+1G=) c.1672+1G= (n.1672+1G=) c.2392+1G= (n.2392+1G=) c.2542+1G= (n.2542+1G=) c.2515+1G= (n.2515+1G=) | |
7 | g.150948443C>G | CA369853598 | KCNH2 | n.3525+1G>C c.2692+1G>C (n.2692+1G>C) c.1672+1G>C (n.1672+1G>C) c.2392+1G>C (n.2392+1G>C) c.2542+1G>C (n.2542+1G>C) c.2515+1G>C (n.2515+1G>C) | |
7 | g.150948443C>T | CA369853600 | KCNH2 | n.3525+1G>A c.2692+1G>A (n.2692+1G>A) c.1672+1G>A (n.1672+1G>A) c.2392+1G>A (n.2392+1G>A) c.2542+1G>A (n.2542+1G>A) c.2515+1G>A (n.2515+1G>A) | gnomAD v4 |
7 | g.150948445del | CA578701804 | KCNH2 | n.3525+1del c.2692+1del c.1672+1del c.2392+1del c.2542+1del c.2515+1del | ClinVar gnomAD v2 gnomAD v4 |
7 | g.150948444C>A | CA369853602 | KCNH2 | n.3525G>T c.2692G>T (p.Asp898Tyr) c.1672G>T (p.Asp558Tyr) c.2392G>T (p.Asp798Tyr) c.2692G>T (p.Ala898Ser) c.2542G>T (p.Asp848Tyr) c.2515G>T (p.Asp839Tyr) | gnomAD v4 |
7 | g.150948444C= | CA1752431236 | KCNH2 | n.3525G= c.2692G= (p.Asp898=) c.1672G= (p.Asp558=) c.2392G= (p.Asp798=) c.2692G= (p.Ala898=) c.2542G= (p.Asp848=) c.2515G= (p.Asp839=) | |
7 | g.150948444C>G | CA369853603 | KCNH2 | n.3525G>C c.2692G>C (p.Asp898His) c.1672G>C (p.Asp558His) c.2392G>C (p.Asp798His) c.2692G>C (p.Ala898Pro) c.2542G>C (p.Asp848His) c.2515G>C (p.Asp839His) | |
7 | g.150948444C>T | CA369853605 | KCNH2 | n.3525G>A c.2692G>A (p.Asp898Asn) c.1672G>A (p.Asp558Asn) c.2392G>A (p.Asp798Asn) c.2692G>A (p.Ala898Thr) c.2542G>A (p.Asp848Asn) c.2515G>A (p.Asp839Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948445_150948446insGTGTCC | CA835223348 | KCNH2 | n.3525_3525+1insACACGG c.2692_2692+1insACACGG (p.Asp898_Thr899insThrAsp) c.1672_1672+1insACACGG (p.Asp558_Thr559insThrAsp) c.2392_2392+1insACACGG (p.Asp798_Thr799insThrAsp) c.2692_2692+1insACACGG (p.Lys897_Ala898insAspThr) c.2542_2542+1insACACGG (p.Asp848_Thr849insThrAsp) c.2515_2515+1insACACGG (p.Asp839_Thr840insThrAsp) | dbSNP |
7 | g.150948444_150948446delinsCCT | CA1752431235 | KCNH2 | n.3523_3525delinsAGG c.2690_2692delinsAGG (p.Lys897=) c.1670_1672delinsAGG (p.Lys557=) c.2390_2392delinsAGG (p.Lys797=) c.2540_2542delinsAGG (p.Lys847=) c.2513_2515delinsAGG (p.Lys838=) | |
7 | g.150948445C>A | CA369853607 | KCNH2 | n.3524G>T c.2691G>T (p.Lys897Asn) c.1671G>T (p.Lys557Asn) c.2391G>T (p.Lys797Asn) c.2541G>T (p.Lys847Asn) c.2514G>T (p.Lys838Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948445C= | CA1752431247 | KCNH2 | n.3524G= c.2691G= (p.Lys897=) c.1671G= (p.Lys557=) c.2391G= (p.Lys797=) c.2541G= (p.Lys847=) c.2514G= (p.Lys838=) | |
7 | g.150948445C>G | CA034285 | KCNH2 | n.3524G>C c.2691G>C (p.Lys897Asn) c.1671G>C (p.Lys557Asn) c.2391G>C (p.Lys797Asn) c.2541G>C (p.Lys847Asn) c.2514G>C (p.Lys838Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948445C>T | CA034271 | KCNH2 | n.3524G>A c.2691G>A (p.Lys897=) c.1671G>A (p.Lys557=) c.2391G>A (p.Lys797=) c.2541G>A (p.Lys847=) c.2514G>A (p.Lys838=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948445_150948446delinsG | CA007155 | KCNH2 | n.3523_3524delinsC c.2690_2691delinsC (p.Lys897ThrfsTer?) c.1670_1671delinsC (p.Lys557ThrfsTer?) c.2390_2391delinsC (p.Lys797ThrfsTer?) c.2540_2541delinsC (p.Lys847ThrfsTer?) c.2513_2514delinsC (p.Lys838ThrfsTer?) | ClinVar dbSNP |
7 | g.150948445_150948446delinsCT | CA1752431250 | KCNH2 | n.3523_3524delinsAG c.2690_2691delinsAG (p.Lys897=) c.1670_1671delinsAG (p.Lys557=) c.2390_2391delinsAG (p.Lys797=) c.2540_2541delinsAG (p.Lys847=) c.2513_2514delinsAG (p.Lys838=) | |
7 | g.150948445_150948446delinsGG | CA2739278689 | KCNH2 | n.3523_3524delinsCC c.2690_2691delinsCC (p.Lys897Thr) c.1670_1671delinsCC (p.Lys557Thr) c.2390_2391delinsCC (p.Lys797Thr) c.2540_2541delinsCC (p.Lys847Thr) c.2513_2514delinsCC (p.Lys838Thr) | ClinVar |
7 | g.150948445_150948446delinsTG | CA2580077775 | KCNH2 | n.3523_3524delinsCA c.2690_2691delinsCA (p.Lys897Thr) c.1670_1671delinsCA (p.Lys557Thr) c.2390_2391delinsCA (p.Lys797Thr) c.2540_2541delinsCA (p.Lys847Thr) c.2513_2514delinsCA (p.Lys838Thr) | ClinVar |
7 | g.150948445_150948449delinsCTTGT | CA1752431249 | KCNH2 | n.3520_3524delinsACAAG c.2687_2691delinsACAAG (p.Asp896=) c.1667_1671delinsACAAG (p.Asp556=) c.2387_2391delinsACAAG (p.Asp796=) c.2537_2541delinsACAAG (p.Asp846=) c.2510_2514delinsACAAG (p.Asp837=) | |
7 | g.150948449_150948475del | CA2580077776 | KCNH2 | n.3498_3524del c.2665_2691del (p.Leu889_Lys897del) c.1645_1671del (p.Leu549_Lys557del) c.2365_2391del (p.Leu789_Lys797del) c.2515_2541del (p.Leu839_Lys847del) c.2488_2514del (p.Leu830_Lys838del) | ClinVar |
7 | g.150948445_150948446insG | CA4566423 | KCNH2 | n.3523_3524insC c.2690_2691insC (p.Lys897AsnfsTer23) c.1670_1671insC (p.Lys557AsnfsTer23) c.2390_2391insC (p.Lys797AsnfsTer23) c.2690_2691insC (p.Lys897AsnfsTer?) c.2540_2541insC (p.Lys847AsnfsTer23) c.2513_2514insC (p.Lys838AsnfsTer23) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948445_150948446insCT | CA578701830 | KCNH2 | n.3523_3524insAG c.2690_2691insAG (p.Asp898GlyfsTer?) c.1670_1671insAG (p.Asp558GlyfsTer?) c.2390_2391insAG (p.Asp798GlyfsTer?) c.2690_2691insAG (p.Ala898GlyfsTer?) c.2540_2541insAG (p.Asp848GlyfsTer?) c.2513_2514insAG (p.Asp839GlyfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948446T>A | CA007169 | KCNH2 | n.3523A>T c.2690A>T (p.Lys897Met) c.1670A>T (p.Lys557Met) c.2390A>T (p.Lys797Met) c.2540A>T (p.Lys847Met) c.2513A>T (p.Lys838Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948446T>C | CA369853610 | KCNH2 | n.3523A>G c.2690A>G (p.Lys897Arg) c.1670A>G (p.Lys557Arg) c.2390A>G (p.Lys797Arg) c.2540A>G (p.Lys847Arg) c.2513A>G (p.Lys838Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948446T>G | CA007162 | KCNH2 | n.3523A>C c.2690A>C (p.Lys897Thr) c.1670A>C (p.Lys557Thr) c.2390A>C (p.Lys797Thr) c.2540A>C (p.Lys847Thr) c.2513A>C (p.Lys838Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948446T= | CA1752431259 | KCNH2 | n.3523A= c.2690A= (p.Lys897=) c.1670A= (p.Lys557=) c.2390A= (p.Lys797=) c.2540A= (p.Lys847=) c.2513A= (p.Lys838=) | |
7 | g.150948446delinsGTGTCG | CA915945571 | KCNH2 | n.3523delinsCGACAC c.2690delinsCGACAC (p.Lys897ThrfsTer?) c.1670delinsCGACAC (p.Lys557ThrfsTer?) c.2390delinsCGACAC (p.Lys797ThrfsTer?) c.2540delinsCGACAC (p.Lys847ThrfsTer?) c.2513delinsCGACAC (p.Lys838ThrfsTer?) | ClinVar dbSNP |
7 | g.150948446delinsGTGTCCG | CA2580077777 | KCNH2 | n.3523delinsCGGACAC c.2690delinsCGGACAC (p.Lys897delinsThrAspThr) c.1670delinsCGGACAC (p.Lys557delinsThrAspThr) c.2390delinsCGGACAC (p.Lys797delinsThrAspThr) c.2540delinsCGGACAC (p.Lys847delinsThrAspThr) c.2513delinsCGGACAC (p.Lys838delinsThrAspThr) | ClinVar |
7 | g.150948447del | CA2685602702 | KCNH2 | n.3523del c.2690del (p.Lys897ArgfsTer?) c.1670del (p.Lys557ArgfsTer?) c.2390del (p.Lys797ArgfsTer?) c.2540del (p.Lys847ArgfsTer?) c.2513del (p.Lys838ArgfsTer?) | gnomAD v4 |
7 | g.150948446_150948449del | CA578701834 | KCNH2 | n.3520_3523del c.2687_2690del (p.Asp896GlyfsTer?) c.1667_1670del (p.Asp556GlyfsTer?) c.2387_2390del (p.Asp796GlyfsTer?) c.2537_2540del (p.Asp846GlyfsTer?) c.2510_2513del (p.Asp837GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948447_150948449del | CA578701824 | KCNH2 | n.3521_3523del c.2688_2690del (p.Asp896_Lys897delinsGlu) c.1668_1670del (p.Asp556_Lys557delinsGlu) c.2388_2390del (p.Asp796_Lys797delinsGlu) c.2538_2540del (p.Asp846_Lys847delinsGlu) c.2511_2513del (p.Asp837_Lys838delinsGlu) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948446_150948447insGTCCG | CA4566424 | KCNH2 | n.3522_3523insCGGAC c.2689_2690insCGGAC (p.Lys897ThrfsTer?) c.1669_1670insCGGAC (p.Lys557ThrfsTer?) c.2389_2390insCGGAC (p.Lys797ThrfsTer?) c.2539_2540insCGGAC (p.Lys847ThrfsTer?) c.2512_2513insCGGAC (p.Lys838ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948447T>A | CA369853612 | KCNH2 | n.3522A>T c.2689A>T (p.Lys897Ter) c.1669A>T (p.Lys557Ter) c.2389A>T (p.Lys797Ter) c.2539A>T (p.Lys847Ter) c.2512A>T (p.Lys838Ter) | gnomAD v4 |
7 | g.150948447T>C | CA369853613 | KCNH2 | n.3522A>G c.2689A>G (p.Lys897Glu) c.1669A>G (p.Lys557Glu) c.2389A>G (p.Lys797Glu) c.2539A>G (p.Lys847Glu) c.2512A>G (p.Lys838Glu) | ClinVar |
7 | g.150948447T>G | CA369853615 | KCNH2 | n.3522A>C c.2689A>C (p.Lys897Gln) c.1669A>C (p.Lys557Gln) c.2389A>C (p.Lys797Gln) c.2539A>C (p.Lys847Gln) c.2512A>C (p.Lys838Gln) | ClinVar gnomAD v4 |
7 | g.150948448G>A | CA458644969 | KCNH2 | n.3521C>T c.2688C>T (p.Asp896=) c.1668C>T (p.Asp556=) c.2388C>T (p.Asp796=) c.2538C>T (p.Asp846=) c.2511C>T (p.Asp837=) | |
7 | g.150948448G>C | CA369853617 | KCNH2 | n.3521C>G c.2688C>G (p.Asp896Glu) c.1668C>G (p.Asp556Glu) c.2388C>G (p.Asp796Glu) c.2538C>G (p.Asp846Glu) c.2511C>G (p.Asp837Glu) | |
7 | g.150948448G= | CA1752431265 | KCNH2 | n.3521C= c.2688C= (p.Asp896=) c.1668C= (p.Asp556=) c.2388C= (p.Asp796=) c.2538C= (p.Asp846=) c.2511C= (p.Asp837=) | |
7 | g.150948448G>T | CA369853618 | KCNH2 | n.3521C>A c.2688C>A (p.Asp896Glu) c.1668C>A (p.Asp556Glu) c.2388C>A (p.Asp796Glu) c.2538C>A (p.Asp846Glu) c.2511C>A (p.Asp837Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948449T>A | CA369853619 | KCNH2 | n.3520A>T c.2687A>T (p.Asp896Val) c.1667A>T (p.Asp556Val) c.2387A>T (p.Asp796Val) c.2537A>T (p.Asp846Val) c.2510A>T (p.Asp837Val) | |
7 | g.150948449T>C | CA034162 | KCNH2 | n.3520A>G c.2687A>G (p.Asp896Gly) c.1667A>G (p.Asp556Gly) c.2387A>G (p.Asp796Gly) c.2537A>G (p.Asp846Gly) c.2510A>G (p.Asp837Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948449T>G | CA369853621 | KCNH2 | n.3520A>C c.2687A>C (p.Asp896Ala) c.1667A>C (p.Asp556Ala) c.2387A>C (p.Asp796Ala) c.2537A>C (p.Asp846Ala) c.2510A>C (p.Asp837Ala) | |
7 | g.150948449T= | CA1752431268 | KCNH2 | n.3520A= c.2687A= (p.Asp896=) c.1667A= (p.Asp556=) c.2387A= (p.Asp796=) c.2537A= (p.Asp846=) c.2510A= (p.Asp837=) | |
7 | g.150948449_150948456delinsTCCGTGCG | CA1752431270 | KCNH2 | n.3513_3520delinsCGCACGGA c.2680_2687delinsCGCACGGA (p.Arg894=) c.1660_1667delinsCGCACGGA (p.Arg554=) c.2380_2387delinsCGCACGGA (p.Arg794=) c.2530_2537delinsCGCACGGA (p.Arg844=) c.2503_2510delinsCGCACGGA (p.Arg835=) | |
7 | g.150948450C>A | CA369853623 | KCNH2 | n.3519G>T c.2686G>T (p.Asp896Tyr) c.1666G>T (p.Asp556Tyr) c.2386G>T (p.Asp796Tyr) c.2536G>T (p.Asp846Tyr) c.2509G>T (p.Asp837Tyr) | |
7 | g.150948450C= | CA1752431273 | KCNH2 | n.3519G= c.2686G= (p.Asp896=) c.1666G= (p.Asp556=) c.2386G= (p.Asp796=) c.2536G= (p.Asp846=) c.2509G= (p.Asp837=) | |
7 | g.150948450C>G | CA369853625 | KCNH2 | n.3519G>C c.2686G>C (p.Asp896His) c.1666G>C (p.Asp556His) c.2386G>C (p.Asp796His) c.2536G>C (p.Asp846His) c.2509G>C (p.Asp837His) | |
7 | g.150948450C>T | CA369853626 | KCNH2 | n.3519G>A c.2686G>A (p.Asp896Asn) c.1666G>A (p.Asp556Asn) c.2386G>A (p.Asp796Asn) c.2536G>A (p.Asp846Asn) c.2509G>A (p.Asp837Asn) | dbSNP gnomAD v4 |
7 | g.150948452_150948458del | CA658797036 | KCNH2 | n.3513_3519del c.2680_2686del (p.Arg894ThrfsTer?) c.1660_1666del (p.Arg554ThrfsTer?) c.2380_2386del (p.Arg794ThrfsTer?) c.2530_2536del (p.Arg844ThrfsTer?) c.2503_2509del (p.Arg835ThrfsTer?) | ClinVar dbSNP |
7 | g.150948451C>A | CA034153 | KCNH2 | n.3518G>T c.2685G>T (p.Thr895=) c.1665G>T (p.Thr555=) c.2385G>T (p.Thr795=) c.2535G>T (p.Thr845=) c.2508G>T (p.Thr836=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948451C= | CA1752431280 | KCNH2 | n.3518G= c.2685G= (p.Thr895=) c.1665G= (p.Thr555=) c.2385G= (p.Thr795=) c.2535G= (p.Thr845=) c.2508G= (p.Thr836=) | |
7 | g.150948451C>G | CA458644970 | KCNH2 | n.3518G>C c.2685G>C (p.Thr895=) c.1665G>C (p.Thr555=) c.2385G>C (p.Thr795=) c.2535G>C (p.Thr845=) c.2508G>C (p.Thr836=) | gnomAD v4 |
7 | g.150948451C>T | CA458644971 | KCNH2 | n.3518G>A c.2685G>A (p.Thr895=) c.1665G>A (p.Thr555=) c.2385G>A (p.Thr795=) c.2535G>A (p.Thr845=) c.2508G>A (p.Thr836=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150948453_150948456dup | CA2499218791 | KCNH2 | n.3515_3518dup c.2682_2685dup (p.Asp896HisfsTer25) c.1662_1665dup (p.Asp556HisfsTer25) c.2382_2385dup (p.Asp796HisfsTer25) c.2682_2685dup (p.Asp896HisfsTer?) c.2532_2535dup (p.Asp846HisfsTer25) c.2505_2508dup (p.Asp837HisfsTer25) | ClinVar dbSNP |
7 | g.150948452del | CA2573141854 | KCNH2 | n.3517del c.2684del (p.Thr895ArgfsTer?) c.1664del (p.Thr555ArgfsTer?) c.2384del (p.Thr795ArgfsTer?) c.2534del (p.Thr845ArgfsTer?) c.2507del (p.Thr836ArgfsTer?) | ClinVar dbSNP |
7 | g.150948452G>A | CA007147 | KCNH2 | n.3517C>T c.2684C>T (p.Thr895Met) c.1664C>T (p.Thr555Met) c.2384C>T (p.Thr795Met) c.2534C>T (p.Thr845Met) c.2507C>T (p.Thr836Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948452G>C | CA034086 | KCNH2 | n.3517C>G c.2684C>G (p.Thr895Arg) c.1664C>G (p.Thr555Arg) c.2384C>G (p.Thr795Arg) c.2534C>G (p.Thr845Arg) c.2507C>G (p.Thr836Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948452G= | CA1752431290 | KCNH2 | n.3517C= c.2684C= (p.Thr895=) c.1664C= (p.Thr555=) c.2384C= (p.Thr795=) c.2534C= (p.Thr845=) c.2507C= (p.Thr836=) | |
7 | g.150948452G>T | CA369853629 | KCNH2 | n.3517C>A c.2684C>A (p.Thr895Lys) c.1664C>A (p.Thr555Lys) c.2384C>A (p.Thr795Lys) c.2534C>A (p.Thr845Lys) c.2507C>A (p.Thr836Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.150948452_150948453insGG | CA007140 | KCNH2 | n.3517_3518insCC c.2684_2685insCC (p.Asp896ArgfsTer?) c.1664_1665insCC (p.Asp556ArgfsTer?) c.2384_2385insCC (p.Asp796ArgfsTer?) c.2534_2535insCC (p.Asp846ArgfsTer?) c.2507_2508insCC (p.Asp837ArgfsTer?) | ClinVar dbSNP |
7 | g.150948452_150948458delinsGTGCGCC | CA1752431289 | KCNH2 | n.3511_3517delinsGGCGCAC c.2678_2684delinsGGCGCAC (p.Arg893=) c.1658_1664delinsGGCGCAC (p.Arg553=) c.2378_2384delinsGGCGCAC (p.Arg793=) c.2528_2534delinsGGCGCAC (p.Arg843=) c.2501_2507delinsGGCGCAC (p.Arg834=) | |
7 | g.150948452_150948453insGTGC | CA2695208813 | KCNH2 | n.3516_3517insGCAC c.2683_2684insGCAC (p.Thr895SerfsTer26) c.1663_1664insGCAC (p.Thr555SerfsTer26) c.2383_2384insGCAC (p.Thr795SerfsTer26) c.2683_2684insGCAC (p.Thr895SerfsTer?) c.2533_2534insGCAC (p.Thr845SerfsTer26) c.2506_2507insGCAC (p.Thr836SerfsTer26) | |
7 | g.150948453T>A | CA369853632 | KCNH2 | n.3516A>T c.2683A>T (p.Thr895Ser) c.1663A>T (p.Thr555Ser) c.2383A>T (p.Thr795Ser) c.2533A>T (p.Thr845Ser) c.2506A>T (p.Thr836Ser) | |
7 | g.150948453T>C | CA369853634 | KCNH2 | n.3516A>G c.2683A>G (p.Thr895Ala) c.1663A>G (p.Thr555Ala) c.2383A>G (p.Thr795Ala) c.2533A>G (p.Thr845Ala) c.2506A>G (p.Thr836Ala) | gnomAD v4 |
7 | g.150948453T>G | CA369853635 | KCNH2 | n.3516A>C c.2683A>C (p.Thr895Pro) c.1663A>C (p.Thr555Pro) c.2383A>C (p.Thr795Pro) c.2533A>C (p.Thr845Pro) c.2506A>C (p.Thr836Pro) | gnomAD v4 |
7 | g.150948457_150948462dup | CA4566425 | KCNH2 | n.3511_3516dup c.2678_2683dup (p.Arg894_Thr895insArgArg) c.1658_1663dup (p.Arg554_Thr555insArgArg) c.2378_2383dup (p.Arg794_Thr795insArgArg) c.2528_2533dup (p.Arg844_Thr845insArgArg) c.2501_2506dup (p.Arg835_Thr836insArgArg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948457_150948462del | CA1752431297 | KCNH2 | n.3511_3516del c.2678_2683del (p.Arg893_Arg894del) c.1658_1663del (p.Arg553_Arg554del) c.2378_2383del (p.Arg793_Arg794del) c.2528_2533del (p.Arg843_Arg844del) c.2501_2506del (p.Arg834_Arg835del) | ClinVar dbSNP |
7 | g.150948458_150948478dup | CA4566426 | KCNH2 | n.3496_3516dup c.2663_2683dup (p.Arg894_Thr895insLysLeuSerPheArgArgArg) c.1643_1663dup (p.Arg554_Thr555insLysLeuSerPheArgArgArg) c.2363_2383dup (p.Arg794_Thr795insLysLeuSerPheArgArgArg) c.2513_2533dup (p.Arg844_Thr845insLysLeuSerPheArgArgArg) c.2486_2506dup (p.Arg835_Thr836insLysLeuSerPheArgArgArg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948454G>A | CA458644972 | KCNH2 | n.3515C>T c.2682C>T (p.Arg894=) c.1662C>T (p.Arg554=) c.2382C>T (p.Arg794=) c.2532C>T (p.Arg844=) c.2505C>T (p.Arg835=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948454G>C | CA458644973 | KCNH2 | n.3515C>G c.2682C>G (p.Arg894=) c.1662C>G (p.Arg554=) c.2382C>G (p.Arg794=) c.2532C>G (p.Arg844=) c.2505C>G (p.Arg835=) | |
7 | g.150948454G= | CA1752431302 | KCNH2 | n.3515C= c.2682C= (p.Arg894=) c.1662C= (p.Arg554=) c.2382C= (p.Arg794=) c.2532C= (p.Arg844=) c.2505C= (p.Arg835=) | |
7 | g.150948454G>T | CA458644974 | KCNH2 | n.3515C>A c.2682C>A (p.Arg894=) c.1662C>A (p.Arg554=) c.2382C>A (p.Arg794=) c.2532C>A (p.Arg844=) c.2505C>A (p.Arg835=) | gnomAD v4 |
7 | g.150948456_150948457dup | CA2685600457 | KCNH2 | n.3514_3515dup c.2681_2682dup (p.Thr895AlafsTer?) c.1661_1662dup (p.Thr555AlafsTer?) c.2381_2382dup (p.Thr795AlafsTer?) c.2531_2532dup (p.Thr845AlafsTer?) c.2504_2505dup (p.Thr836AlafsTer?) | gnomAD v4 |
7 | g.150948456_150948457del | CA2685600458 | KCNH2 | n.3514_3515del c.2681_2682del (p.Arg894HisfsTer25) c.1661_1662del (p.Arg554HisfsTer25) c.2381_2382del (p.Arg794HisfsTer25) c.2681_2682del (p.Arg894HisfsTer?) c.2531_2532del (p.Arg844HisfsTer25) c.2504_2505del (p.Arg835HisfsTer25) | gnomAD v4 |
7 | g.150948454_150948460del | CA658761323 | KCNH2 | n.3509_3515del c.2676_2682del (p.Arg894ThrfsTer?) c.1656_1662del (p.Arg554ThrfsTer?) c.2376_2382del (p.Arg794ThrfsTer?) c.2526_2532del (p.Arg844ThrfsTer?) c.2499_2505del (p.Arg835ThrfsTer?) | |
7 | g.150948455C>A | CA007134 | KCNH2 | n.3514G>T c.2681G>T (p.Arg894Leu) c.1661G>T (p.Arg554Leu) c.2381G>T (p.Arg794Leu) c.2531G>T (p.Arg844Leu) c.2504G>T (p.Arg835Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948455C= | CA1752431309 | KCNH2 | n.3514G= c.2681G= (p.Arg894=) c.1661G= (p.Arg554=) c.2381G= (p.Arg794=) c.2531G= (p.Arg844=) c.2504G= (p.Arg835=) | |
7 | g.150948455C>G | CA369853638 | KCNH2 | n.3514G>C c.2681G>C (p.Arg894Pro) c.1661G>C (p.Arg554Pro) c.2381G>C (p.Arg794Pro) c.2531G>C (p.Arg844Pro) c.2504G>C (p.Arg835Pro) | dbSNP gnomAD v4 |
7 | g.150948455C>T | CA034058 | KCNH2 | n.3514G>A c.2681G>A (p.Arg894His) c.1661G>A (p.Arg554His) c.2381G>A (p.Arg794His) c.2531G>A (p.Arg844His) c.2504G>A (p.Arg835His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.150948456_150948458dup | CA1752431312 | KCNH2 | n.3512_3514dup c.2679_2681dup (p.Arg894_Thr895insArg) c.1659_1661dup (p.Arg554_Thr555insArg) c.2379_2381dup (p.Arg794_Thr795insArg) c.2529_2531dup (p.Arg844_Thr845insArg) c.2502_2504dup (p.Arg835_Thr836insArg) | dbSNP gnomAD v4 |
7 | g.150948456G>A | CA007127 | KCNH2 | n.3513C>T c.2680C>T (p.Arg894Cys) c.1660C>T (p.Arg554Cys) c.2380C>T (p.Arg794Cys) c.2530C>T (p.Arg844Cys) c.2503C>T (p.Arg835Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948456G>C | CA369853640 | KCNH2 | n.3513C>G c.2680C>G (p.Arg894Gly) c.1660C>G (p.Arg554Gly) c.2380C>G (p.Arg794Gly) c.2530C>G (p.Arg844Gly) c.2503C>G (p.Arg835Gly) | |
7 | g.150948456G= | CA1752431316 | KCNH2 | n.3513C= c.2680C= (p.Arg894=) c.1660C= (p.Arg554=) c.2380C= (p.Arg794=) c.2530C= (p.Arg844=) c.2503C= (p.Arg835=) | |
7 | g.150948456G>T | CA369853641 | KCNH2 | n.3513C>A c.2680C>A (p.Arg894Ser) c.1660C>A (p.Arg554Ser) c.2380C>A (p.Arg794Ser) c.2530C>A (p.Arg844Ser) c.2503C>A (p.Arg835Ser) | gnomAD v4 |
7 | g.150948456_150948460dup | CA2499218792 | KCNH2 | n.3509_3513dup c.2676_2680dup (p.Arg894ProfsTer?) c.1656_1660dup (p.Arg554ProfsTer?) c.2376_2380dup (p.Arg794ProfsTer?) c.2526_2530dup (p.Arg844ProfsTer?) c.2499_2503dup (p.Arg835ProfsTer?) | ClinVar dbSNP |
7 | g.150948458_150948461dup | CA658797037 | KCNH2 | n.3510_3513dup c.2677_2680dup (p.Arg894GlnfsTer27) c.1657_1660dup (p.Arg554GlnfsTer27) c.2377_2380dup (p.Arg794GlnfsTer27) c.2677_2680dup (p.Arg894GlnfsTer?) c.2527_2530dup (p.Arg844GlnfsTer27) c.2500_2503dup (p.Arg835GlnfsTer27) | ClinVar dbSNP gnomAD v4 |
7 | g.150948457C>A | CA369853642 | KCNH2 | n.3512G>T c.2679G>T (p.Arg893Ser) c.1659G>T (p.Arg553Ser) c.2379G>T (p.Arg793Ser) c.2529G>T (p.Arg843Ser) c.2502G>T (p.Arg834Ser) | gnomAD v4 |
7 | g.150948457C= | CA1752431321 | KCNH2 | n.3512G= c.2679G= (p.Arg893=) c.1659G= (p.Arg553=) c.2379G= (p.Arg793=) c.2529G= (p.Arg843=) c.2502G= (p.Arg834=) | |
7 | g.150948457C>G | CA369853644 | KCNH2 | n.3512G>C c.2679G>C (p.Arg893Ser) c.1659G>C (p.Arg553Ser) c.2379G>C (p.Arg793Ser) c.2529G>C (p.Arg843Ser) c.2502G>C (p.Arg834Ser) | |
7 | g.150948457C>T | CA458644975 | KCNH2 | n.3512G>A c.2679G>A (p.Arg893=) c.1659G>A (p.Arg553=) c.2379G>A (p.Arg793=) c.2529G>A (p.Arg843=) c.2502G>A (p.Arg834=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948457_150948461dup | CA645372848 | KCNH2 | n.3508_3512dup c.2675_2679dup (p.Arg894AlafsTer?) c.1655_1659dup (p.Arg554AlafsTer?) c.2375_2379dup (p.Arg794AlafsTer?) c.2525_2529dup (p.Arg844AlafsTer?) c.2498_2502dup (p.Arg835AlafsTer?) | ClinVar dbSNP |
7 | g.150948458C>A | CA369853647 | KCNH2 | n.3511G>T c.2678G>T (p.Arg893Met) c.1658G>T (p.Arg553Met) c.2378G>T (p.Arg793Met) c.2528G>T (p.Arg843Met) c.2501G>T (p.Arg834Met) | |
7 | g.150948458C= | CA1752431325 | KCNH2 | n.3511G= c.2678G= (p.Arg893=) c.1658G= (p.Arg553=) c.2378G= (p.Arg793=) c.2528G= (p.Arg843=) c.2501G= (p.Arg834=) | |
7 | g.150948458C>G | CA369853649 | KCNH2 | n.3511G>C c.2678G>C (p.Arg893Thr) c.1658G>C (p.Arg553Thr) c.2378G>C (p.Arg793Thr) c.2528G>C (p.Arg843Thr) c.2501G>C (p.Arg834Thr) | |
7 | g.150948458C>T | CA369853646 | KCNH2 | n.3511G>A c.2678G>A (p.Arg893Lys) c.1658G>A (p.Arg553Lys) c.2378G>A (p.Arg793Lys) c.2528G>A (p.Arg843Lys) c.2501G>A (p.Arg834Lys) | ClinVar dbSNP COSMIC COSMIC |
7 | g.150948459T>A | CA369853650 | KCNH2 | n.3510A>T c.2677A>T (p.Arg893Trp) c.1657A>T (p.Arg553Trp) c.2377A>T (p.Arg793Trp) c.2527A>T (p.Arg843Trp) c.2500A>T (p.Arg834Trp) | |
7 | g.150948459T>C | CA369853652 | KCNH2 | n.3510A>G c.2677A>G (p.Arg893Gly) c.1657A>G (p.Arg553Gly) c.2377A>G (p.Arg793Gly) c.2527A>G (p.Arg843Gly) c.2500A>G (p.Arg834Gly) | gnomAD v4 |
7 | g.150948459T>G | CA458644976 | KCNH2 | n.3510A>C c.2677A>C (p.Arg893=) c.1657A>C (p.Arg553=) c.2377A>C (p.Arg793=) c.2527A>C (p.Arg843=) c.2500A>C (p.Arg834=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948459T= | CA1752431326 | KCNH2 | n.3510A= c.2677A= (p.Arg893=) c.1657A= (p.Arg553=) c.2377A= (p.Arg793=) c.2527A= (p.Arg843=) c.2500A= (p.Arg834=) | |
7 | g.150948459_150948460delinsTG | CA1752431327 | KCNH2 | n.3509_3510delinsCA c.2676_2677delinsCA (p.Arg892=) c.1656_1657delinsCA (p.Arg552=) c.2376_2377delinsCA (p.Arg792=) c.2526_2527delinsCA (p.Arg842=) c.2499_2500delinsCA (p.Arg833=) | |
7 | g.150948460del | CA1139660337 | KCNH2 | n.3509del c.2676del (p.Arg893GlyfsTer?) c.1656del (p.Arg553GlyfsTer?) c.2376del (p.Arg793GlyfsTer?) c.2526del (p.Arg843GlyfsTer?) c.2499del (p.Arg834GlyfsTer?) | ClinVar dbSNP |
7 | g.150948460G>A | CA458644977 | KCNH2 | n.3509C>T c.2676C>T (p.Arg892=) c.1656C>T (p.Arg552=) c.2376C>T (p.Arg792=) c.2526C>T (p.Arg842=) c.2499C>T (p.Arg833=) | dbSNP gnomAD v2 |
7 | g.150948460G>C | CA458644978 | KCNH2 | n.3509C>G c.2676C>G (p.Arg892=) c.1656C>G (p.Arg552=) c.2376C>G (p.Arg792=) c.2526C>G (p.Arg842=) c.2499C>G (p.Arg833=) | |
7 | g.150948460G= | CA1752431328 | KCNH2 | n.3509C= c.2676C= (p.Arg892=) c.1656C= (p.Arg552=) c.2376C= (p.Arg792=) c.2526C= (p.Arg842=) c.2499C= (p.Arg833=) | |
7 | g.150948460G>T | CA458644979 | KCNH2 | n.3509C>A c.2676C>A (p.Arg892=) c.1656C>A (p.Arg552=) c.2376C>A (p.Arg792=) c.2526C>A (p.Arg842=) c.2499C>A (p.Arg833=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948461C>A | CA369853653 | KCNH2 | n.3508G>T c.2675G>T (p.Arg892Leu) c.1655G>T (p.Arg552Leu) c.2375G>T (p.Arg792Leu) c.2525G>T (p.Arg842Leu) c.2498G>T (p.Arg833Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150948461C= | CA1752431334 | KCNH2 | n.3508G= c.2675G= (p.Arg892=) c.1655G= (p.Arg552=) c.2375G= (p.Arg792=) c.2525G= (p.Arg842=) c.2498G= (p.Arg833=) | |
7 | g.150948461C>G | CA369853654 | KCNH2 | n.3508G>C c.2675G>C (p.Arg892Pro) c.1655G>C (p.Arg552Pro) c.2375G>C (p.Arg792Pro) c.2525G>C (p.Arg842Pro) c.2498G>C (p.Arg833Pro) | |
7 | g.150948461C>T | CA033981 | KCNH2 | n.3508G>A c.2675G>A (p.Arg892His) c.1655G>A (p.Arg552His) c.2375G>A (p.Arg792His) c.2525G>A (p.Arg842His) c.2498G>A (p.Arg833His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948462G>A | CA007118 | KCNH2 | n.3507C>T c.2674C>T (p.Arg892Cys) c.1654C>T (p.Arg552Cys) c.2374C>T (p.Arg792Cys) c.2524C>T (p.Arg842Cys) c.2497C>T (p.Arg833Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948462G>C | CA033951 | KCNH2 | n.3507C>G c.2674C>G (p.Arg892Gly) c.1654C>G (p.Arg552Gly) c.2374C>G (p.Arg792Gly) c.2524C>G (p.Arg842Gly) c.2497C>G (p.Arg833Gly) | ClinVar dbSNP ExAC COSMIC COSMIC |
7 | g.150948462G= | CA1752431335 | KCNH2 | n.3507C= c.2674C= (p.Arg892=) c.1654C= (p.Arg552=) c.2374C= (p.Arg792=) c.2524C= (p.Arg842=) c.2497C= (p.Arg833=) | |
7 | g.150948462G>T | CA369853658 | KCNH2 | n.3507C>A c.2674C>A (p.Arg892Ser) c.1654C>A (p.Arg552Ser) c.2374C>A (p.Arg792Ser) c.2524C>A (p.Arg842Ser) c.2497C>A (p.Arg833Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150948462_150948464dup | CA578701876 | KCNH2 | n.3505_3507dup c.2672_2674dup (p.Phe891_Arg892insLeu) c.1652_1654dup (p.Phe551_Arg552insLeu) c.2372_2374dup (p.Phe791_Arg792insLeu) c.2522_2524dup (p.Phe841_Arg842insLeu) c.2495_2497dup (p.Phe832_Arg833insLeu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948463G>A | CA033902 | KCNH2 | n.3506C>T c.2673C>T (p.Phe891=) c.1653C>T (p.Phe551=) c.2373C>T (p.Phe791=) c.2523C>T (p.Phe841=) c.2496C>T (p.Phe832=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948463G>C | CA369853661 | KCNH2 | n.3506C>G c.2673C>G (p.Phe891Leu) c.1653C>G (p.Phe551Leu) c.2373C>G (p.Phe791Leu) c.2523C>G (p.Phe841Leu) c.2496C>G (p.Phe832Leu) | gnomAD v4 |
7 | g.150948463G= | CA1752431340 | KCNH2 | n.3506C= c.2673C= (p.Phe891=) c.1653C= (p.Phe551=) c.2373C= (p.Phe791=) c.2523C= (p.Phe841=) c.2496C= (p.Phe832=) | |
7 | g.150948463G>T | CA369853662 | KCNH2 | n.3506C>A c.2673C>A (p.Phe891Leu) c.1653C>A (p.Phe551Leu) c.2373C>A (p.Phe791Leu) c.2523C>A (p.Phe841Leu) c.2496C>A (p.Phe832Leu) | gnomAD v4 |
7 | g.150948463_150948464delinsAT | CA2573052836 | KCNH2 | n.3505_3506delinsAT c.2672_2673delinsAT (p.Phe891Tyr) c.1652_1653delinsAT (p.Phe551Tyr) c.2372_2373delinsAT (p.Phe791Tyr) c.2522_2523delinsAT (p.Phe841Tyr) c.2495_2496delinsAT (p.Phe832Tyr) | ClinVar dbSNP |
7 | g.150948464A= | CA1752431341 | KCNH2 | n.3505T= c.2672T= (p.Phe891=) c.1652T= (p.Phe551=) c.2372T= (p.Phe791=) c.2522T= (p.Phe841=) c.2495T= (p.Phe832=) | |
7 | g.150948464A>C | CA369853663 | KCNH2 | n.3505T>G c.2672T>G (p.Phe891Cys) c.1652T>G (p.Phe551Cys) c.2372T>G (p.Phe791Cys) c.2522T>G (p.Phe841Cys) c.2495T>G (p.Phe832Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948464A>G | CA369853665 | KCNH2 | n.3505T>C c.2672T>C (p.Phe891Ser) c.1652T>C (p.Phe551Ser) c.2372T>C (p.Phe791Ser) c.2522T>C (p.Phe841Ser) c.2495T>C (p.Phe832Ser) | |
7 | g.150948464A>T | CA369853666 | KCNH2 | n.3505T>A c.2672T>A (p.Phe891Tyr) c.1652T>A (p.Phe551Tyr) c.2372T>A (p.Phe791Tyr) c.2522T>A (p.Phe841Tyr) c.2495T>A (p.Phe832Tyr) | dbSNP |
7 | g.150948465A>C | CA369853670 | KCNH2 | n.3504T>G c.2671T>G (p.Phe891Val) c.1651T>G (p.Phe551Val) c.2371T>G (p.Phe791Val) c.2521T>G (p.Phe841Val) c.2494T>G (p.Phe832Val) | |
7 | g.150948465A>G | CA369853668 | KCNH2 | n.3504T>C c.2671T>C (p.Phe891Leu) c.1651T>C (p.Phe551Leu) c.2371T>C (p.Phe791Leu) c.2521T>C (p.Phe841Leu) c.2494T>C (p.Phe832Leu) | |
7 | g.150948465A>T | CA369853669 | KCNH2 | n.3504T>A c.2671T>A (p.Phe891Ile) c.1651T>A (p.Phe551Ile) c.2371T>A (p.Phe791Ile) c.2521T>A (p.Phe841Ile) c.2494T>A (p.Phe832Ile) | |
7 | g.150948465_150948466insCTT | CA2579062593 | KCNH2 | n.3503_3504insAAG c.2670_2671insAAG (p.Ser890_Phe891insLys) c.1650_1651insAAG (p.Ser550_Phe551insLys) c.2370_2371insAAG (p.Ser790_Phe791insLys) c.2520_2521insAAG (p.Ser840_Phe841insLys) c.2493_2494insAAG (p.Ser831_Phe832insLys) | |
7 | g.150948465_150948466insCTTGC | CA2502904577 | KCNH2 | n.3503_3504insGCAAG c.2670_2671insGCAAG (p.Phe891AlafsTer?) c.1650_1651insGCAAG (p.Phe551AlafsTer?) c.2370_2371insGCAAG (p.Phe791AlafsTer?) c.2520_2521insGCAAG (p.Phe841AlafsTer?) c.2493_2494insGCAAG (p.Phe832AlafsTer?) | gnomAD v4 |
7 | g.150948466G>A | CA033884 | KCNH2 | n.3503C>T c.2670C>T (p.Ser890=) c.1650C>T (p.Ser550=) c.2370C>T (p.Ser790=) c.2520C>T (p.Ser840=) c.2493C>T (p.Ser831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948466G>C | CA169073197 | KCNH2 | n.3503C>G c.2670C>G (p.Ser890=) c.1650C>G (p.Ser550=) c.2370C>G (p.Ser790=) c.2520C>G (p.Ser840=) c.2493C>G (p.Ser831=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948466G= | CA1752431346 | KCNH2 | n.3503C= c.2670C= (p.Ser890=) c.1650C= (p.Ser550=) c.2370C= (p.Ser790=) c.2520C= (p.Ser840=) c.2493C= (p.Ser831=) | |
7 | g.150948466G>T | CA458644980 | KCNH2 | n.3503C>A c.2670C>A (p.Ser890=) c.1650C>A (p.Ser550=) c.2370C>A (p.Ser790=) c.2520C>A (p.Ser840=) c.2493C>A (p.Ser831=) | |
7 | g.150948466_150948468delinsCTTGCG | CA2580077779 | KCNH2 | n.3501_3503delinsCGCAAG c.2668_2670delinsCGCAAG (p.Ser890delinsArgLys) c.1648_1650delinsCGCAAG (p.Ser550delinsArgLys) c.2368_2370delinsCGCAAG (p.Ser790delinsArgLys) c.2518_2520delinsCGCAAG (p.Ser840delinsArgLys) c.2491_2493delinsCGCAAG (p.Ser831delinsArgLys) | ClinVar |
7 | g.150948466_150948472del | CA2685600481 | KCNH2 | n.3497_3503del c.2664_2670del (p.Lys888AsnfsTer?) c.1644_1650del (p.Lys548AsnfsTer?) c.2364_2370del (p.Lys788AsnfsTer?) c.2514_2520del (p.Lys838AsnfsTer?) c.2487_2493del (p.Lys829AsnfsTer?) | gnomAD v4 |
7 | g.150948467G>A | CA369853673 | KCNH2 | n.3502C>T c.2669C>T (p.Ser890Phe) c.1649C>T (p.Ser550Phe) c.2369C>T (p.Ser790Phe) c.2519C>T (p.Ser840Phe) c.2492C>T (p.Ser831Phe) | COSMIC COSMIC |
7 | g.150948467G>C | CA369853675 | KCNH2 | n.3502C>G c.2669C>G (p.Ser890Cys) c.1649C>G (p.Ser550Cys) c.2369C>G (p.Ser790Cys) c.2519C>G (p.Ser840Cys) c.2492C>G (p.Ser831Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948467G= | CA1752431352 | KCNH2 | n.3502C= c.2669C= (p.Ser890=) c.1649C= (p.Ser550=) c.2369C= (p.Ser790=) c.2519C= (p.Ser840=) c.2492C= (p.Ser831=) | |
7 | g.150948467G>T | CA369853676 | KCNH2 | n.3502C>A c.2669C>A (p.Ser890Tyr) c.1649C>A (p.Ser550Tyr) c.2369C>A (p.Ser790Tyr) c.2519C>A (p.Ser840Tyr) c.2492C>A (p.Ser831Tyr) | gnomAD v4 |
7 | g.150948467_150948468del | CA2500743728 | KCNH2 | n.3501_3502del c.2668_2669del (p.Ser890LeufsTer29) c.1648_1649del (p.Ser550LeufsTer29) c.2368_2369del (p.Ser790LeufsTer29) c.2668_2669del (p.Ser890LeufsTer?) c.2518_2519del (p.Ser840LeufsTer29) c.2491_2492del (p.Ser831LeufsTer29) | gnomAD v4 |
7 | g.150948468A= | CA1752431358 | KCNH2 | n.3501T= c.2668T= (p.Ser890=) c.1648T= (p.Ser550=) c.2368T= (p.Ser790=) c.2518T= (p.Ser840=) c.2491T= (p.Ser831=) | |
7 | g.150948468A>C | CA369853678 | KCNH2 | n.3501T>G c.2668T>G (p.Ser890Ala) c.1648T>G (p.Ser550Ala) c.2368T>G (p.Ser790Ala) c.2518T>G (p.Ser840Ala) c.2491T>G (p.Ser831Ala) | |
7 | g.150948468A>G | CA369853680 | KCNH2 | n.3501T>C c.2668T>C (p.Ser890Pro) c.1648T>C (p.Ser550Pro) c.2368T>C (p.Ser790Pro) c.2518T>C (p.Ser840Pro) c.2491T>C (p.Ser831Pro) | ClinVar dbSNP |
7 | g.150948468A>T | CA369853681 | KCNH2 | n.3501T>A c.2668T>A (p.Ser890Thr) c.1648T>A (p.Ser550Thr) c.2368T>A (p.Ser790Thr) c.2518T>A (p.Ser840Thr) c.2491T>A (p.Ser831Thr) | |
7 | g.150948469C>A | CA369853683 | KCNH2 | n.3500G>T c.2667G>T (p.Leu889Phe) c.1647G>T (p.Leu549Phe) c.2367G>T (p.Leu789Phe) c.2517G>T (p.Leu839Phe) c.2490G>T (p.Leu830Phe) | gnomAD v4 |
7 | g.150948469C= | CA1752431361 | KCNH2 | n.3500G= c.2667G= (p.Leu889=) c.1647G= (p.Leu549=) c.2367G= (p.Leu789=) c.2517G= (p.Leu839=) c.2490G= (p.Leu830=) | |
7 | g.150948469C>G | CA369853685 | KCNH2 | n.3500G>C c.2667G>C (p.Leu889Phe) c.1647G>C (p.Leu549Phe) c.2367G>C (p.Leu789Phe) c.2517G>C (p.Leu839Phe) c.2490G>C (p.Leu830Phe) | |
7 | g.150948469C>T | CA458644981 | KCNH2 | n.3500G>A c.2667G>A (p.Leu889=) c.1647G>A (p.Leu549=) c.2367G>A (p.Leu789=) c.2517G>A (p.Leu839=) c.2490G>A (p.Leu830=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948470A>C | CA369853686 | KCNH2 | n.3499T>G c.2666T>G (p.Leu889Trp) c.1646T>G (p.Leu549Trp) c.2366T>G (p.Leu789Trp) c.2516T>G (p.Leu839Trp) c.2489T>G (p.Leu830Trp) | |
7 | g.150948470A>G | CA369853687 | KCNH2 | n.3499T>C c.2666T>C (p.Leu889Ser) c.1646T>C (p.Leu549Ser) c.2366T>C (p.Leu789Ser) c.2516T>C (p.Leu839Ser) c.2489T>C (p.Leu830Ser) | ClinVar |
7 | g.150948470A>T | CA369853688 | KCNH2 | n.3499T>A c.2666T>A (p.Leu889Ter) c.1646T>A (p.Leu549Ter) c.2366T>A (p.Leu789Ter) c.2516T>A (p.Leu839Ter) c.2489T>A (p.Leu830Ter) | |
7 | g.150948471A= | CA1752431369 | KCNH2 | n.3498T= c.2665T= (p.Leu889=) c.1645T= (p.Leu549=) c.2365T= (p.Leu789=) c.2515T= (p.Leu839=) c.2488T= (p.Leu830=) | |
7 | g.150948471A>C | CA007102 | KCNH2 | n.3498T>G c.2665T>G (p.Leu889Val) c.1645T>G (p.Leu549Val) c.2365T>G (p.Leu789Val) c.2515T>G (p.Leu839Val) c.2488T>G (p.Leu830Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948471A>G | CA458644982 | KCNH2 | n.3498T>C c.2665T>C (p.Leu889=) c.1645T>C (p.Leu549=) c.2365T>C (p.Leu789=) c.2515T>C (p.Leu839=) c.2488T>C (p.Leu830=) | dbSNP |
7 | g.150948471A>T | CA033812 | KCNH2 | n.3498T>A c.2665T>A (p.Leu889Met) c.1645T>A (p.Leu549Met) c.2365T>A (p.Leu789Met) c.2515T>A (p.Leu839Met) c.2488T>A (p.Leu830Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948472C>A | CA369853691 | KCNH2 | n.3497G>T c.2664G>T (p.Lys888Asn) c.1644G>T (p.Lys548Asn) c.2364G>T (p.Lys788Asn) c.2514G>T (p.Lys838Asn) c.2487G>T (p.Lys829Asn) | |
7 | g.150948472C= | CA1752431372 | KCNH2 | n.3497G= c.2664G= (p.Lys888=) c.1644G= (p.Lys548=) c.2364G= (p.Lys788=) c.2514G= (p.Lys838=) c.2487G= (p.Lys829=) | |
7 | g.150948472C>G | CA369853693 | KCNH2 | n.3497G>C c.2664G>C (p.Lys888Asn) c.1644G>C (p.Lys548Asn) c.2364G>C (p.Lys788Asn) c.2514G>C (p.Lys838Asn) c.2487G>C (p.Lys829Asn) | |
7 | g.150948472C>T | CA458644983 | KCNH2 | n.3497G>A c.2664G>A (p.Lys888=) c.1644G>A (p.Lys548=) c.2364G>A (p.Lys788=) c.2514G>A (p.Lys838=) c.2487G>A (p.Lys829=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948478_150948483del | CA2685600492 | KCNH2 | n.3492_3497del c.2659_2664del (p.Arg887_Lys888del) c.1639_1644del (p.Arg547_Lys548del) c.2359_2364del (p.Arg787_Lys788del) c.2509_2514del (p.Arg837_Lys838del) c.2482_2487del (p.Arg828_Lys829del) | gnomAD v4 |
7 | g.150948473T>A | CA369853695 | KCNH2 | n.3496A>T c.2663A>T (p.Lys888Met) c.1643A>T (p.Lys548Met) c.2363A>T (p.Lys788Met) c.2513A>T (p.Lys838Met) c.2486A>T (p.Lys829Met) | |
7 | g.150948473T>C | CA369853696 | KCNH2 | n.3496A>G c.2663A>G (p.Lys888Arg) c.1643A>G (p.Lys548Arg) c.2363A>G (p.Lys788Arg) c.2513A>G (p.Lys838Arg) c.2486A>G (p.Lys829Arg) | |
7 | g.150948473T>G | CA369853698 | KCNH2 | n.3496A>C c.2663A>C (p.Lys888Thr) c.1643A>C (p.Lys548Thr) c.2363A>C (p.Lys788Thr) c.2513A>C (p.Lys838Thr) c.2486A>C (p.Lys829Thr) | gnomAD v4 |
7 | g.150948474T>A | CA369853700 | KCNH2 | n.3495A>T c.2662A>T (p.Lys888Ter) c.1642A>T (p.Lys548Ter) c.2362A>T (p.Lys788Ter) c.2512A>T (p.Lys838Ter) c.2485A>T (p.Lys829Ter) | |
7 | g.150948474T>C | CA369853701 | KCNH2 | n.3495A>G c.2662A>G (p.Lys888Glu) c.1642A>G (p.Lys548Glu) c.2362A>G (p.Lys788Glu) c.2512A>G (p.Lys838Glu) c.2485A>G (p.Lys829Glu) | |
7 | g.150948474T>G | CA369853703 | KCNH2 | n.3495A>C c.2662A>C (p.Lys888Gln) c.1642A>C (p.Lys548Gln) c.2362A>C (p.Lys788Gln) c.2512A>C (p.Lys838Gln) c.2485A>C (p.Lys829Gln) | gnomAD v4 |
7 | g.150948475G>A | CA458644984 | KCNH2 | n.3494C>T c.2661C>T (p.Arg887=) c.1641C>T (p.Arg547=) c.2361C>T (p.Arg787=) c.2511C>T (p.Arg837=) c.2484C>T (p.Arg828=) | ClinVar dbSNP |
7 | g.150948475G>C | CA458644985 | KCNH2 | n.3494C>G c.2661C>G (p.Arg887=) c.1641C>G (p.Arg547=) c.2361C>G (p.Arg787=) c.2511C>G (p.Arg837=) c.2484C>G (p.Arg828=) | dbSNP gnomAD v4 |
7 | g.150948475G= | CA1752431374 | KCNH2 | n.3494C= c.2661C= (p.Arg887=) c.1641C= (p.Arg547=) c.2361C= (p.Arg787=) c.2511C= (p.Arg837=) c.2484C= (p.Arg828=) | |
7 | g.150948475G>T | CA458644986 | KCNH2 | n.3494C>A c.2661C>A (p.Arg887=) c.1641C>A (p.Arg547=) c.2361C>A (p.Arg787=) c.2511C>A (p.Arg837=) c.2484C>A (p.Arg828=) | ClinVar gnomAD v4 |
7 | g.150948476del | CA2695208814 | KCNH2 | n.3493del c.2660del (p.Arg887ProfsTer?) c.1640del (p.Arg547ProfsTer?) c.2360del (p.Arg787ProfsTer?) c.2510del (p.Arg837ProfsTer?) c.2483del (p.Arg828ProfsTer?) | |
7 | g.150948476C>A | CA369853704 | KCNH2 | n.3493G>T c.2660G>T (p.Arg887Leu) c.1640G>T (p.Arg547Leu) c.2360G>T (p.Arg787Leu) c.2510G>T (p.Arg837Leu) c.2483G>T (p.Arg828Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150948476C= | CA1752431375 | KCNH2 | n.3493G= c.2660G= (p.Arg887=) c.1640G= (p.Arg547=) c.2360G= (p.Arg787=) c.2510G= (p.Arg837=) c.2483G= (p.Arg828=) | |
7 | g.150948476C>G | CA369853705 | KCNH2 | n.3493G>C c.2660G>C (p.Arg887Pro) c.1640G>C (p.Arg547Pro) c.2360G>C (p.Arg787Pro) c.2510G>C (p.Arg837Pro) c.2483G>C (p.Arg828Pro) | dbSNP gnomAD v4 |
7 | g.150948476C>T | CA007095 | KCNH2 | n.3493G>A c.2660G>A (p.Arg887His) c.1640G>A (p.Arg547His) c.2360G>A (p.Arg787His) c.2510G>A (p.Arg837His) c.2483G>A (p.Arg828His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948476_150948485delinsCGCTTGCGTT | CA1752431380 | KCNH2 | n.3484_3493delinsAACGCAAGCG c.2651_2660delinsAACGCAAGCG (p.Gln884=) c.1631_1640delinsAACGCAAGCG (p.Gln544=) c.2351_2360delinsAACGCAAGCG (p.Gln784=) c.2501_2510delinsAACGCAAGCG (p.Gln834=) c.2474_2483delinsAACGCAAGCG (p.Gln825=) | |
7 | g.150948477G>A | CA007085 | KCNH2 | n.3492C>T c.2659C>T (p.Arg887Cys) c.1639C>T (p.Arg547Cys) c.2359C>T (p.Arg787Cys) c.2509C>T (p.Arg837Cys) c.2482C>T (p.Arg828Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948477G>C | CA033782 | KCNH2 | n.3492C>G c.2659C>G (p.Arg887Gly) c.1639C>G (p.Arg547Gly) c.2359C>G (p.Arg787Gly) c.2509C>G (p.Arg837Gly) c.2482C>G (p.Arg828Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948477G= | CA1752431383 | KCNH2 | n.3492C= c.2659C= (p.Arg887=) c.1639C= (p.Arg547=) c.2359C= (p.Arg787=) c.2509C= (p.Arg837=) c.2482C= (p.Arg828=) | |
7 | g.150948477G>T | CA033758 | KCNH2 | n.3492C>A c.2659C>A (p.Arg887Ser) c.1639C>A (p.Arg547Ser) c.2359C>A (p.Arg787Ser) c.2509C>A (p.Arg837Ser) c.2482C>A (p.Arg828Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948477_150948478delinsTT | CA2739278690 | KCNH2 | n.3491_3492delinsAA c.2658_2659delinsAA (p.Arg887Ser) c.1638_1639delinsAA (p.Arg547Ser) c.2358_2359delinsAA (p.Arg787Ser) c.2508_2509delinsAA (p.Arg837Ser) c.2481_2482delinsAA (p.Arg828Ser) | ClinVar |
7 | g.150948477_150948481dup | CA2695208815 | KCNH2 | n.3488_3492dup c.2655_2659dup (p.Arg887ProfsTer?) c.1635_1639dup (p.Arg547ProfsTer?) c.2355_2359dup (p.Arg787ProfsTer?) c.2505_2509dup (p.Arg837ProfsTer?) c.2478_2482dup (p.Arg828ProfsTer?) | |
7 | g.150948479_150948482dup | CA2685600494 | KCNH2 | n.3489_3492dup c.2656_2659dup (p.Arg887GlnfsTer?) c.1636_1639dup (p.Arg547GlnfsTer?) c.2356_2359dup (p.Arg787GlnfsTer?) c.2506_2509dup (p.Arg837GlnfsTer?) c.2479_2482dup (p.Arg828GlnfsTer?) | gnomAD v4 |
7 | g.150948479_150948487del | CA033618 | KCNH2 | n.3484_3492del c.2651_2659del (p.Gln884_Lys886del) c.1631_1639del (p.Gln544_Lys546del) c.2351_2359del (p.Gln784_Lys786del) c.2501_2509del (p.Gln834_Lys836del) c.2474_2482del (p.Gln825_Lys827del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948477_150948489del | CA2695208816 | KCNH2 | n.3480_3492del c.2647_2659del (p.Arg883AlafsTer?) c.1627_1639del (p.Arg543AlafsTer?) c.2347_2359del (p.Arg783AlafsTer?) c.2497_2509del (p.Arg833AlafsTer?) c.2470_2482del (p.Arg824AlafsTer?) | |
7 | g.150948478C>A | CA369853710 | KCNH2 | n.3491G>T c.2658G>T (p.Lys886Asn) c.1638G>T (p.Lys546Asn) c.2358G>T (p.Lys786Asn) c.2508G>T (p.Lys836Asn) c.2481G>T (p.Lys827Asn) | |
7 | g.150948478C= | CA1752431388 | KCNH2 | n.3491G= c.2658G= (p.Lys886=) c.1638G= (p.Lys546=) c.2358G= (p.Lys786=) c.2508G= (p.Lys836=) c.2481G= (p.Lys827=) | |
7 | g.150948478C>G | CA369853712 | KCNH2 | n.3491G>C c.2658G>C (p.Lys886Asn) c.1638G>C (p.Lys546Asn) c.2358G>C (p.Lys786Asn) c.2508G>C (p.Lys836Asn) c.2481G>C (p.Lys827Asn) | ClinVar |
7 | g.150948478C>T | CA033734 | KCNH2 | n.3491G>A c.2658G>A (p.Lys886=) c.1638G>A (p.Lys546=) c.2358G>A (p.Lys786=) c.2508G>A (p.Lys836=) c.2481G>A (p.Lys827=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948478_150948483delinsCTTGCG | CA1752431389 | KCNH2 | n.3486_3491delinsCGCAAG c.2653_2658delinsCGCAAG (p.Arg885=) c.1633_1638delinsCGCAAG (p.Arg545=) c.2353_2358delinsCGCAAG (p.Arg785=) c.2503_2508delinsCGCAAG (p.Arg835=) c.2476_2481delinsCGCAAG (p.Arg826=) | |
7 | g.150948479T>A | CA369853714 | KCNH2 | n.3490A>T c.2657A>T (p.Lys886Met) c.1637A>T (p.Lys546Met) c.2357A>T (p.Lys786Met) c.2507A>T (p.Lys836Met) c.2480A>T (p.Lys827Met) | |
7 | g.150948479T>C | CA369853716 | KCNH2 | n.3490A>G c.2657A>G (p.Lys886Arg) c.1637A>G (p.Lys546Arg) c.2357A>G (p.Lys786Arg) c.2507A>G (p.Lys836Arg) c.2480A>G (p.Lys827Arg) | |
7 | g.150948479T>G | CA369853717 | KCNH2 | n.3490A>C c.2657A>C (p.Lys886Thr) c.1637A>C (p.Lys546Thr) c.2357A>C (p.Lys786Thr) c.2507A>C (p.Lys836Thr) c.2480A>C (p.Lys827Thr) | ClinVar |
7 | g.150948480dup | CA658797038 | KCNH2 | n.3490dup c.2657dup (p.Arg887AlafsTer?) c.1637dup (p.Arg547AlafsTer?) c.2357dup (p.Arg787AlafsTer?) c.2507dup (p.Arg837AlafsTer?) c.2480dup (p.Arg828AlafsTer?) | ClinVar dbSNP |
7 | g.150948480_150948485dup | CA2685600497 | KCNH2 | n.3485_3490dup c.2652_2657dup (p.Lys886_Arg887insArgLys) c.1632_1637dup (p.Lys546_Arg547insArgLys) c.2352_2357dup (p.Lys786_Arg787insArgLys) c.2502_2507dup (p.Lys836_Arg837insArgLys) c.2475_2480dup (p.Lys827_Arg828insArgLys) | gnomAD v4 |
7 | g.150948483_150948487del | CA1139660338 | KCNH2 | n.3486_3490del c.2653_2657del (p.Arg885AlafsTer?) c.1633_1637del (p.Arg545AlafsTer?) c.2353_2357del (p.Arg785AlafsTer?) c.2503_2507del (p.Arg835AlafsTer?) c.2476_2480del (p.Arg826AlafsTer?) | ClinVar dbSNP |
7 | g.150948479_150948491delinsTTGCGTTGCCGAC | CA1752431396 | KCNH2 | n.3478_3490delinsGTCGGCAACGCAA c.2645_2657delinsGTCGGCAACGCAA (p.Ser882=) c.1625_1637delinsGTCGGCAACGCAA (p.Ser542=) c.2345_2357delinsGTCGGCAACGCAA (p.Ser782=) c.2495_2507delinsGTCGGCAACGCAA (p.Ser832=) c.2468_2480delinsGTCGGCAACGCAA (p.Ser823=) | |
7 | g.150948480T>A | CA369853719 | KCNH2 | n.3489A>T c.2656A>T (p.Lys886Ter) c.1636A>T (p.Lys546Ter) c.2356A>T (p.Lys786Ter) c.2506A>T (p.Lys836Ter) c.2479A>T (p.Lys827Ter) | |
7 | g.150948480T>C | CA369853720 | KCNH2 | n.3489A>G c.2656A>G (p.Lys886Glu) c.1636A>G (p.Lys546Glu) c.2356A>G (p.Lys786Glu) c.2506A>G (p.Lys836Glu) c.2479A>G (p.Lys827Glu) | dbSNP gnomAD v2 |
7 | g.150948480T>G | CA369853722 | KCNH2 | n.3489A>C c.2656A>C (p.Lys886Gln) c.1636A>C (p.Lys546Gln) c.2356A>C (p.Lys786Gln) c.2506A>C (p.Lys836Gln) c.2479A>C (p.Lys827Gln) | |
7 | g.150948480T= | CA1752431400 | KCNH2 | n.3489A= c.2656A= (p.Lys886=) c.1636A= (p.Lys546=) c.2356A= (p.Lys786=) c.2506A= (p.Lys836=) c.2479A= (p.Lys827=) | |
7 | g.150948482_150948493del | CA1752431399 | KCNH2 | n.3478_3489del c.2645_2656del (p.Ser882_Arg885del) c.1625_1636del (p.Ser542_Arg545del) c.2345_2356del (p.Ser782_Arg785del) c.2495_2506del (p.Ser832_Arg835del) c.2468_2479del (p.Ser823_Arg826del) | ClinVar dbSNP gnomAD v4 |
7 | g.150948481G>A | CA458644988 | KCNH2 | n.3488C>T c.2655C>T (p.Arg885=) c.1635C>T (p.Arg545=) c.2355C>T (p.Arg785=) c.2505C>T (p.Arg835=) c.2478C>T (p.Arg826=) | |
7 | g.150948481G>C | CA458644989 | KCNH2 | n.3488C>G c.2655C>G (p.Arg885=) c.1635C>G (p.Arg545=) c.2355C>G (p.Arg785=) c.2505C>G (p.Arg835=) c.2478C>G (p.Arg826=) | |
7 | g.150948481G>T | CA458644990 | KCNH2 | n.3488C>A c.2655C>A (p.Arg885=) c.1635C>A (p.Arg545=) c.2355C>A (p.Arg785=) c.2505C>A (p.Arg835=) c.2478C>A (p.Arg826=) | gnomAD v4 |
7 | g.150948481_150948483del | CA2778425473 | KCNH2 | n.3486_3488del c.2653_2655del (p.Arg885del) c.1633_1635del (p.Arg545del) c.2353_2355del (p.Arg785del) c.2503_2505del (p.Arg835del) c.2476_2478del (p.Arg826del) | |
7 | g.150948481_150948482insA | CA2579062613 | KCNH2 | n.3487_3488insT c.2654_2655insT (p.Lys886GlnfsTer?) c.1634_1635insT (p.Lys546GlnfsTer?) c.2354_2355insT (p.Lys786GlnfsTer?) c.2504_2505insT (p.Lys836GlnfsTer?) c.2477_2478insT (p.Lys827GlnfsTer?) | |
7 | g.150948482del | CA2695208817 | KCNH2 | n.3487del c.2654del (p.Arg885ProfsTer?) c.1634del (p.Arg545ProfsTer?) c.2354del (p.Arg785ProfsTer?) c.2504del (p.Arg835ProfsTer?) c.2477del (p.Arg826ProfsTer?) | |
7 | g.150948482C>A | CA369853724 | KCNH2 | n.3487G>T c.2654G>T (p.Arg885Leu) c.1634G>T (p.Arg545Leu) c.2354G>T (p.Arg785Leu) c.2504G>T (p.Arg835Leu) c.2477G>T (p.Arg826Leu) | |
7 | g.150948482C= | CA1752431405 | KCNH2 | n.3487G= c.2654G= (p.Arg885=) c.1634G= (p.Arg545=) c.2354G= (p.Arg785=) c.2504G= (p.Arg835=) c.2477G= (p.Arg826=) | |
7 | g.150948482C>G | CA033712 | KCNH2 | n.3487G>C c.2654G>C (p.Arg885Pro) c.1634G>C (p.Arg545Pro) c.2354G>C (p.Arg785Pro) c.2504G>C (p.Arg835Pro) c.2477G>C (p.Arg826Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948482C>T | CA033689 | KCNH2 | n.3487G>A c.2654G>A (p.Arg885His) c.1634G>A (p.Arg545His) c.2354G>A (p.Arg785His) c.2504G>A (p.Arg835His) c.2477G>A (p.Arg826His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150948482dup | CA2840111917 | KCNH2 | n.3487dup c.2654dup (p.Lys886GlnfsTer?) c.1634dup (p.Lys546GlnfsTer?) c.2354dup (p.Lys786GlnfsTer?) c.2504dup (p.Lys836GlnfsTer?) c.2477dup (p.Lys827GlnfsTer?) | |
7 | g.150948482_150948485delinsAAGAG | CA916084343 | KCNH2 | n.3484_3487delinsCTCTT c.2651_2654delinsCTCTT (p.Gln884ProfsTer?) c.1631_1634delinsCTCTT (p.Gln544ProfsTer?) c.2351_2354delinsCTCTT (p.Gln784ProfsTer?) c.2501_2504delinsCTCTT (p.Gln834ProfsTer?) c.2474_2477delinsCTCTT (p.Gln825ProfsTer?) | |
7 | g.150948484_150948489dup | CA2685600500 | KCNH2 | n.3482_3487dup c.2649_2654dup (p.Arg885_Lys886insGlnArg) c.1629_1634dup (p.Arg545_Lys546insGlnArg) c.2349_2354dup (p.Arg785_Lys786insGlnArg) c.2499_2504dup (p.Arg835_Lys836insGlnArg) c.2472_2477dup (p.Arg826_Lys827insGlnArg) | gnomAD v4 |
7 | g.150948483G>A | CA007076 | KCNH2 | n.3486C>T c.2653C>T (p.Arg885Cys) c.1633C>T (p.Arg545Cys) c.2353C>T (p.Arg785Cys) c.2503C>T (p.Arg835Cys) c.2476C>T (p.Arg826Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948483G>C | CA369853728 | KCNH2 | n.3486C>G c.2653C>G (p.Arg885Gly) c.1633C>G (p.Arg545Gly) c.2353C>G (p.Arg785Gly) c.2503C>G (p.Arg835Gly) c.2476C>G (p.Arg826Gly) | |
7 | g.150948483G= | CA1752431413 | KCNH2 | n.3486C= c.2653C= (p.Arg885=) c.1633C= (p.Arg545=) c.2353C= (p.Arg785=) c.2503C= (p.Arg835=) c.2476C= (p.Arg826=) | |
7 | g.150948483G>T | CA033654 | KCNH2 | n.3486C>A c.2653C>A (p.Arg885Ser) c.1633C>A (p.Arg545Ser) c.2353C>A (p.Arg785Ser) c.2503C>A (p.Arg835Ser) c.2476C>A (p.Arg826Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948484T>A | CA369853730 | KCNH2 | n.3485A>T c.2652A>T (p.Gln884His) c.1632A>T (p.Gln544His) c.2352A>T (p.Gln784His) c.2502A>T (p.Gln834His) c.2475A>T (p.Gln825His) | |
7 | g.150948484T>C | CA458644991 | KCNH2 | n.3485A>G c.2652A>G (p.Gln884=) c.1632A>G (p.Gln544=) c.2352A>G (p.Gln784=) c.2502A>G (p.Gln834=) c.2475A>G (p.Gln825=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948484T>G | CA369853731 | KCNH2 | n.3485A>C c.2652A>C (p.Gln884His) c.1632A>C (p.Gln544His) c.2352A>C (p.Gln784His) c.2502A>C (p.Gln834His) c.2475A>C (p.Gln825His) | |
7 | g.150948484T= | CA1752431414 | KCNH2 | n.3485A= c.2652A= (p.Gln884=) c.1632A= (p.Gln544=) c.2352A= (p.Gln784=) c.2502A= (p.Gln834=) c.2475A= (p.Gln825=) | |
7 | g.150948484_150948485del | CA2778425489 | KCNH2 | n.3484_3485del c.2651_2652del (p.Gln884ProfsTer?) c.1631_1632del (p.Gln544ProfsTer?) c.2351_2352del (p.Gln784ProfsTer?) c.2501_2502del (p.Gln834ProfsTer?) c.2474_2475del (p.Gln825ProfsTer?) | |
7 | g.150948484_150948488dup | CA2697557667 | KCNH2 | n.3481_3485dup c.2648_2652dup (p.Arg885GlyfsTer?) c.1628_1632dup (p.Arg545GlyfsTer?) c.2348_2352dup (p.Arg785GlyfsTer?) c.2498_2502dup (p.Arg835GlyfsTer?) c.2471_2475dup (p.Arg826GlyfsTer?) | ClinVar |
7 | g.150948485T>A | CA369853733 | KCNH2 | n.3484A>T c.2651A>T (p.Gln884Leu) c.1631A>T (p.Gln544Leu) c.2351A>T (p.Gln784Leu) c.2501A>T (p.Gln834Leu) c.2474A>T (p.Gln825Leu) | |
7 | g.150948485T>C | CA369853736 | KCNH2 | n.3484A>G c.2651A>G (p.Gln884Arg) c.1631A>G (p.Gln544Arg) c.2351A>G (p.Gln784Arg) c.2501A>G (p.Gln834Arg) c.2474A>G (p.Gln825Arg) | ClinVar dbSNP |
7 | g.150948485T>G | CA369853735 | KCNH2 | n.3484A>C c.2651A>C (p.Gln884Pro) c.1631A>C (p.Gln544Pro) c.2351A>C (p.Gln784Pro) c.2501A>C (p.Gln834Pro) c.2474A>C (p.Gln825Pro) | |
7 | g.150948485T= | CA1752431415 | KCNH2 | n.3484A= c.2651A= (p.Gln884=) c.1631A= (p.Gln544=) c.2351A= (p.Gln784=) c.2501A= (p.Gln834=) c.2474A= (p.Gln825=) | |
7 | g.150948485_150948486insAAT | CA2778425491 | KCNH2 | n.3484_3485insTTA c.2651_2652insTTA (p.Gln884HisfsTer2) c.1631_1632insTTA (p.Gln544HisfsTer2) c.2351_2352insTTA (p.Gln784HisfsTer2) c.2501_2502insTTA (p.Gln834HisfsTer2) c.2474_2475insTTA (p.Gln825HisfsTer2) | |
7 | g.150948486G>A | CA369853738 | KCNH2 | n.3483C>T c.2650C>T (p.Gln884Ter) c.1630C>T (p.Gln544Ter) c.2350C>T (p.Gln784Ter) c.2500C>T (p.Gln834Ter) c.2473C>T (p.Gln825Ter) | gnomAD v4 |
7 | g.150948486G>C | CA369853741 | KCNH2 | n.3483C>G c.2650C>G (p.Gln884Glu) c.1630C>G (p.Gln544Glu) c.2350C>G (p.Gln784Glu) c.2500C>G (p.Gln834Glu) c.2473C>G (p.Gln825Glu) | |
7 | g.150948486G>T | CA369853740 | KCNH2 | n.3483C>A c.2650C>A (p.Gln884Lys) c.1630C>A (p.Gln544Lys) c.2350C>A (p.Gln784Lys) c.2500C>A (p.Gln834Lys) c.2473C>A (p.Gln825Lys) | |
7 | g.150948486_150948487insAT | CA2778425494 | KCNH2 | n.3482_3483insAT c.2649_2650insAT (p.Gln884IlefsTer?) c.1629_1630insAT (p.Gln544IlefsTer?) c.2349_2350insAT (p.Gln784IlefsTer?) c.2499_2500insAT (p.Gln834IlefsTer?) c.2472_2473insAT (p.Gln825IlefsTer?) | |
7 | g.150948487C>A | CA458644993 | KCNH2 | n.3482G>T c.2649G>T (p.Arg883=) c.1629G>T (p.Arg543=) c.2349G>T (p.Arg783=) c.2499G>T (p.Arg833=) c.2472G>T (p.Arg824=) | |
7 | g.150948487C= | CA1752431423 | KCNH2 | n.3482G= c.2649G= (p.Arg883=) c.1629G= (p.Arg543=) c.2349G= (p.Arg783=) c.2499G= (p.Arg833=) c.2472G= (p.Arg824=) | |
7 | g.150948487C>G | CA458644994 | KCNH2 | n.3482G>C c.2649G>C (p.Arg883=) c.1629G>C (p.Arg543=) c.2349G>C (p.Arg783=) c.2499G>C (p.Arg833=) c.2472G>C (p.Arg824=) | |
7 | g.150948487C>T | CA458644995 | KCNH2 | n.3482G>A c.2649G>A (p.Arg883=) c.1629G>A (p.Arg543=) c.2349G>A (p.Arg783=) c.2499G>A (p.Arg833=) c.2472G>A (p.Arg824=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948487_150948490delinsCCGA | CA1752431424 | KCNH2 | n.3479_3482delinsTCGG c.2646_2649delinsTCGG (p.Ser882=) c.1626_1629delinsTCGG (p.Ser542=) c.2346_2349delinsTCGG (p.Ser782=) c.2496_2499delinsTCGG (p.Ser832=) c.2469_2472delinsTCGG (p.Ser823=) | |
7 | g.150948488_150948498del | CA658761324 | KCNH2 | n.3472_3482del c.2639_2649del (p.Gly880AlafsTer?) c.1619_1629del (p.Gly540AlafsTer?) c.2339_2349del (p.Gly780AlafsTer?) c.2489_2499del (p.Gly830AlafsTer?) c.2462_2472del (p.Gly821AlafsTer?) | |
7 | g.150948488C>A | CA369853743 | KCNH2 | n.3481G>T c.2648G>T (p.Arg883Leu) c.1628G>T (p.Arg543Leu) c.2348G>T (p.Arg783Leu) c.2498G>T (p.Arg833Leu) c.2471G>T (p.Arg824Leu) | |
7 | g.150948488C= | CA1752431425 | KCNH2 | n.3481G= c.2648G= (p.Arg883=) c.1628G= (p.Arg543=) c.2348G= (p.Arg783=) c.2498G= (p.Arg833=) c.2471G= (p.Arg824=) | |
7 | g.150948488C>G | CA369853744 | KCNH2 | n.3481G>C c.2648G>C (p.Arg883Pro) c.1628G>C (p.Arg543Pro) c.2348G>C (p.Arg783Pro) c.2498G>C (p.Arg833Pro) c.2471G>C (p.Arg824Pro) | gnomAD v4 COSMIC COSMIC |
7 | g.150948488C>T | CA033600 | KCNH2 | n.3481G>A c.2648G>A (p.Arg883Gln) c.1628G>A (p.Arg543Gln) c.2348G>A (p.Arg783Gln) c.2498G>A (p.Arg833Gln) c.2471G>A (p.Arg824Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150948489_150948491del | CA1108705052 | KCNH2 | n.3479_3481del c.2646_2648del (p.Ser882del) c.1626_1628del (p.Ser542del) c.2346_2348del (p.Ser782del) c.2496_2498del (p.Ser832del) c.2469_2471del (p.Ser823del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948489del | CA2580077780 | KCNH2 | n.3480del c.2647del (p.Arg883GlyfsTer?) c.1627del (p.Arg543GlyfsTer?) c.2347del (p.Arg783GlyfsTer?) c.2497del (p.Arg833GlyfsTer?) c.2470del (p.Arg824GlyfsTer?) | ClinVar |
7 | g.150948489G>A | CA033587 | KCNH2 | n.3480C>T c.2647C>T (p.Arg883Trp) c.1627C>T (p.Arg543Trp) c.2347C>T (p.Arg783Trp) c.2497C>T (p.Arg833Trp) c.2470C>T (p.Arg824Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948489G>C | CA033575 | KCNH2 | n.3480C>G c.2647C>G (p.Arg883Gly) c.1627C>G (p.Arg543Gly) c.2347C>G (p.Arg783Gly) c.2497C>G (p.Arg833Gly) c.2470C>G (p.Arg824Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948489G= | CA1752431430 | KCNH2 | n.3480C= c.2647C= (p.Arg883=) c.1627C= (p.Arg543=) c.2347C= (p.Arg783=) c.2497C= (p.Arg833=) c.2470C= (p.Arg824=) | |
7 | g.150948489G>T | CA458644998 | KCNH2 | n.3480C>A c.2647C>A (p.Arg883=) c.1627C>A (p.Arg543=) c.2347C>A (p.Arg783=) c.2497C>A (p.Arg833=) c.2470C>A (p.Arg824=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948489_150948490del | CA2685600508 | KCNH2 | n.3479_3480del c.2646_2647del (p.Ser882ArgfsTer?) c.1626_1627del (p.Ser542ArgfsTer?) c.2346_2347del (p.Ser782ArgfsTer?) c.2496_2497del (p.Ser832ArgfsTer?) c.2469_2470del (p.Ser823ArgfsTer?) | gnomAD v4 |
7 | g.150948489_150948490insGCGACC | CA2778425505 | KCNH2 | n.3479_3480insGGTCGC c.2646_2647insGGTCGC (p.Ser882_Arg883insGlyArg) c.1626_1627insGGTCGC (p.Ser542_Arg543insGlyArg) c.2346_2347insGGTCGC (p.Ser782_Arg783insGlyArg) c.2496_2497insGGTCGC (p.Ser832_Arg833insGlyArg) c.2469_2470insGGTCGC (p.Ser823_Arg824insGlyArg) | |
7 | g.150948490A>C | CA369853748 | KCNH2 | n.3479T>G c.2646T>G (p.Ser882Arg) c.1626T>G (p.Ser542Arg) c.2346T>G (p.Ser782Arg) c.2496T>G (p.Ser832Arg) c.2469T>G (p.Ser823Arg) | |
7 | g.150948490A>G | CA458645000 | KCNH2 | n.3479T>C c.2646T>C (p.Ser882=) c.1626T>C (p.Ser542=) c.2346T>C (p.Ser782=) c.2496T>C (p.Ser832=) c.2469T>C (p.Ser823=) | |
7 | g.150948490A>T | CA369853749 | KCNH2 | n.3479T>A c.2646T>A (p.Ser882Arg) c.1626T>A (p.Ser542Arg) c.2346T>A (p.Ser782Arg) c.2496T>A (p.Ser832Arg) c.2469T>A (p.Ser823Arg) | |
7 | g.150948490_150948495del | CA2685600511 | KCNH2 | n.3474_3479del c.2641_2646del (p.Phe881_Ser882del) c.1621_1626del (p.Phe541_Ser542del) c.2341_2346del (p.Phe781_Ser782del) c.2491_2496del (p.Phe831_Ser832del) c.2464_2469del (p.Phe822_Ser823del) | ClinVar gnomAD v4 |
7 | g.150948491C>A | CA369853751 | KCNH2 | n.3478G>T c.2645G>T (p.Ser882Ile) c.1625G>T (p.Ser542Ile) c.2345G>T (p.Ser782Ile) c.2495G>T (p.Ser832Ile) c.2468G>T (p.Ser823Ile) | gnomAD v4 |
7 | g.150948491C>G | CA369853753 | KCNH2 | n.3478G>C c.2645G>C (p.Ser882Thr) c.1625G>C (p.Ser542Thr) c.2345G>C (p.Ser782Thr) c.2495G>C (p.Ser832Thr) c.2468G>C (p.Ser823Thr) | |
7 | g.150948491C>T | CA369853754 | KCNH2 | n.3478G>A c.2645G>A (p.Ser882Asn) c.1625G>A (p.Ser542Asn) c.2345G>A (p.Ser782Asn) c.2495G>A (p.Ser832Asn) c.2468G>A (p.Ser823Asn) | |
7 | g.150948492T>A | CA369853756 | KCNH2 | n.3477A>T c.2644A>T (p.Ser882Cys) c.1624A>T (p.Ser542Cys) c.2344A>T (p.Ser782Cys) c.2494A>T (p.Ser832Cys) c.2467A>T (p.Ser823Cys) | |
7 | g.150948492T>C | CA369853758 | KCNH2 | n.3477A>G c.2644A>G (p.Ser882Gly) c.1624A>G (p.Ser542Gly) c.2344A>G (p.Ser782Gly) c.2494A>G (p.Ser832Gly) c.2467A>G (p.Ser823Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948492T>G | CA369853759 | KCNH2 | n.3477A>C c.2644A>C (p.Ser882Arg) c.1624A>C (p.Ser542Arg) c.2344A>C (p.Ser782Arg) c.2494A>C (p.Ser832Arg) c.2467A>C (p.Ser823Arg) | |
7 | g.150948492T= | CA1752431433 | KCNH2 | n.3477A= c.2644A= (p.Ser882=) c.1624A= (p.Ser542=) c.2344A= (p.Ser782=) c.2494A= (p.Ser832=) c.2467A= (p.Ser823=) | |
7 | g.150948492_150948502delinsTGAAGCCACCC | CA1752431432 | KCNH2 | n.3467_3477delinsGGGTGGCTTCA c.2634_2644delinsGGGTGGCTTCA (p.Glu878=) c.1614_1624delinsGGGTGGCTTCA (p.Glu538=) c.2334_2344delinsGGGTGGCTTCA (p.Glu778=) c.2484_2494delinsGGGTGGCTTCA (p.Glu828=) c.2457_2467delinsGGGTGGCTTCA (p.Glu819=) | |
7 | g.150948493G>A | CA458645001 | KCNH2 | n.3476C>T c.2643C>T (p.Phe881=) c.1623C>T (p.Phe541=) c.2343C>T (p.Phe781=) c.2493C>T (p.Phe831=) c.2466C>T (p.Phe822=) | |
7 | g.150948493G>C | CA369853761 | KCNH2 | n.3476C>G c.2643C>G (p.Phe881Leu) c.1623C>G (p.Phe541Leu) c.2343C>G (p.Phe781Leu) c.2493C>G (p.Phe831Leu) c.2466C>G (p.Phe822Leu) | gnomAD v4 |
7 | g.150948493G>T | CA369853762 | KCNH2 | n.3476C>A c.2643C>A (p.Phe881Leu) c.1623C>A (p.Phe541Leu) c.2343C>A (p.Phe781Leu) c.2493C>A (p.Phe831Leu) c.2466C>A (p.Phe822Leu) | gnomAD v4 |
7 | g.150948493_150948502del | CA916080385 | KCNH2 | n.3467_3476del c.2634_2643del (p.Gly879ValfsTer?) c.1614_1623del (p.Gly539ValfsTer?) c.2334_2343del (p.Gly779ValfsTer?) c.2484_2493del (p.Gly829ValfsTer?) c.2457_2466del (p.Gly820ValfsTer?) | ClinVar dbSNP |
7 | g.150948494A>C | CA369853764 | KCNH2 | n.3475T>G c.2642T>G (p.Phe881Cys) c.1622T>G (p.Phe541Cys) c.2342T>G (p.Phe781Cys) c.2492T>G (p.Phe831Cys) c.2465T>G (p.Phe822Cys) | |
7 | g.150948494A>G | CA369853766 | KCNH2 | n.3475T>C c.2642T>C (p.Phe881Ser) c.1622T>C (p.Phe541Ser) c.2342T>C (p.Phe781Ser) c.2492T>C (p.Phe831Ser) c.2465T>C (p.Phe822Ser) | |
7 | g.150948494A>T | CA369853768 | KCNH2 | n.3475T>A c.2642T>A (p.Phe881Tyr) c.1622T>A (p.Phe541Tyr) c.2342T>A (p.Phe781Tyr) c.2492T>A (p.Phe831Tyr) c.2465T>A (p.Phe822Tyr) | |
7 | g.150948494_150948495insG | CA2778425513 | KCNH2 | n.3474_3475insC c.2641_2642insC (p.Phe881SerfsTer?) c.1621_1622insC (p.Phe541SerfsTer?) c.2341_2342insC (p.Phe781SerfsTer?) c.2491_2492insC (p.Phe831SerfsTer?) c.2464_2465insC (p.Phe822SerfsTer?) | |
7 | g.150948495A= | CA1752431440 | KCNH2 | n.3474T= c.2641T= (p.Phe881=) c.1621T= (p.Phe541=) c.2341T= (p.Phe781=) c.2491T= (p.Phe831=) c.2464T= (p.Phe822=) | |
7 | g.150948495A>C | CA369853769 | KCNH2 | n.3474T>G c.2641T>G (p.Phe881Val) c.1621T>G (p.Phe541Val) c.2341T>G (p.Phe781Val) c.2491T>G (p.Phe831Val) c.2464T>G (p.Phe822Val) | gnomAD v4 |
7 | g.150948495A>G | CA369853770 | KCNH2 | n.3474T>C c.2641T>C (p.Phe881Leu) c.1621T>C (p.Phe541Leu) c.2341T>C (p.Phe781Leu) c.2491T>C (p.Phe831Leu) c.2464T>C (p.Phe822Leu) | |
7 | g.150948495A>T | CA369853771 | KCNH2 | n.3474T>A c.2641T>A (p.Phe881Ile) c.1621T>A (p.Phe541Ile) c.2341T>A (p.Phe781Ile) c.2491T>A (p.Phe831Ile) c.2464T>A (p.Phe822Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948496G>A | CA458645003 | KCNH2 | n.3473C>T c.2640C>T (p.Gly880=) c.1620C>T (p.Gly540=) c.2340C>T (p.Gly780=) c.2490C>T (p.Gly830=) c.2463C>T (p.Gly821=) | gnomAD v4 |
7 | g.150948496G>C | CA458645004 | KCNH2 | n.3473C>G c.2640C>G (p.Gly880=) c.1620C>G (p.Gly540=) c.2340C>G (p.Gly780=) c.2490C>G (p.Gly830=) c.2463C>G (p.Gly821=) | |
7 | g.150948496G= | CA1752431444 | KCNH2 | n.3473C= c.2640C= (p.Gly880=) c.1620C= (p.Gly540=) c.2340C= (p.Gly780=) c.2490C= (p.Gly830=) c.2463C= (p.Gly821=) | |
7 | g.150948496G>T | CA458645005 | KCNH2 | n.3473C>A c.2640C>A (p.Gly880=) c.1620C>A (p.Gly540=) c.2340C>A (p.Gly780=) c.2490C>A (p.Gly830=) c.2463C>A (p.Gly821=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948497C>A | CA369853772 | KCNH2 | n.3472G>T c.2639G>T (p.Gly880Val) c.1619G>T (p.Gly540Val) c.2339G>T (p.Gly780Val) c.2489G>T (p.Gly830Val) c.2462G>T (p.Gly821Val) | |
7 | g.150948497C= | CA1752431448 | KCNH2 | n.3472G= c.2639G= (p.Gly880=) c.1619G= (p.Gly540=) c.2339G= (p.Gly780=) c.2489G= (p.Gly830=) c.2462G= (p.Gly821=) | |
7 | g.150948497C>G | CA369853774 | KCNH2 | n.3472G>C c.2639G>C (p.Gly880Ala) c.1619G>C (p.Gly540Ala) c.2339G>C (p.Gly780Ala) c.2489G>C (p.Gly830Ala) c.2462G>C (p.Gly821Ala) | |
7 | g.150948497C>T | CA369853775 | KCNH2 | n.3472G>A c.2639G>A (p.Gly880Asp) c.1619G>A (p.Gly540Asp) c.2339G>A (p.Gly780Asp) c.2489G>A (p.Gly830Asp) c.2462G>A (p.Gly821Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.150948497_150948498insTA | CA2778425519 | KCNH2 | n.3471_3472insTA c.2638_2639insTA (p.Gly880ValfsTer?) c.1618_1619insTA (p.Gly540ValfsTer?) c.2338_2339insTA (p.Gly780ValfsTer?) c.2488_2489insTA (p.Gly830ValfsTer?) c.2461_2462insTA (p.Gly821ValfsTer?) | |
7 | g.150948498C>A | CA369853778 | KCNH2 | n.3471G>T c.2638G>T (p.Gly880Cys) c.1618G>T (p.Gly540Cys) c.2338G>T (p.Gly780Cys) c.2488G>T (p.Gly830Cys) c.2461G>T (p.Gly821Cys) | |
7 | g.150948498C>G | CA369853780 | KCNH2 | n.3471G>C c.2638G>C (p.Gly880Arg) c.1618G>C (p.Gly540Arg) c.2338G>C (p.Gly780Arg) c.2488G>C (p.Gly830Arg) c.2461G>C (p.Gly821Arg) | |
7 | g.150948498C>T | CA369853781 | KCNH2 | n.3471G>A c.2638G>A (p.Gly880Ser) c.1618G>A (p.Gly540Ser) c.2338G>A (p.Gly780Ser) c.2488G>A (p.Gly830Ser) c.2461G>A (p.Gly821Ser) | gnomAD v4 |
7 | g.150948499_150948500del | CA2695208818 | KCNH2 | n.3470_3471del c.2637_2638del (p.Gly880LeufsTer?) c.1617_1618del (p.Gly540LeufsTer?) c.2337_2338del (p.Gly780LeufsTer?) c.2487_2488del (p.Gly830LeufsTer?) c.2460_2461del (p.Gly821LeufsTer?) | |
7 | g.150948499A>C | CA458645006 | KCNH2 | n.3470T>G c.2637T>G (p.Gly879=) c.1617T>G (p.Gly539=) c.2337T>G (p.Gly779=) c.2487T>G (p.Gly829=) c.2460T>G (p.Gly820=) | |
7 | g.150948499A>G | CA458645009 | KCNH2 | n.3470T>C c.2637T>C (p.Gly879=) c.1617T>C (p.Gly539=) c.2337T>C (p.Gly779=) c.2487T>C (p.Gly829=) c.2460T>C (p.Gly820=) | |
7 | g.150948499A>T | CA458645007 | KCNH2 | n.3470T>A c.2637T>A (p.Gly879=) c.1617T>A (p.Gly539=) c.2337T>A (p.Gly779=) c.2487T>A (p.Gly829=) c.2460T>A (p.Gly820=) | |
7 | g.150948500C>A | CA369853787 | KCNH2 | n.3469G>T c.2636G>T (p.Gly879Val) c.1616G>T (p.Gly539Val) c.2336G>T (p.Gly779Val) c.2486G>T (p.Gly829Val) c.2459G>T (p.Gly820Val) | |
7 | g.150948500C>G | CA369853785 | KCNH2 | n.3469G>C c.2636G>C (p.Gly879Ala) c.1616G>C (p.Gly539Ala) c.2336G>C (p.Gly779Ala) c.2486G>C (p.Gly829Ala) c.2459G>C (p.Gly820Ala) | |
7 | g.150948500C>T | CA369853783 | KCNH2 | n.3469G>A c.2636G>A (p.Gly879Asp) c.1616G>A (p.Gly539Asp) c.2336G>A (p.Gly779Asp) c.2486G>A (p.Gly829Asp) c.2459G>A (p.Gly820Asp) | ClinVar dbSNP |
7 | g.150948501C>A | CA369853792 | KCNH2 | n.3468G>T c.2635G>T (p.Gly879Cys) c.1615G>T (p.Gly539Cys) c.2335G>T (p.Gly779Cys) c.2485G>T (p.Gly829Cys) c.2458G>T (p.Gly820Cys) | |
7 | g.150948501C= | CA1752431453 | KCNH2 | n.3468G= c.2635G= (p.Gly879=) c.1615G= (p.Gly539=) c.2335G= (p.Gly779=) c.2485G= (p.Gly829=) c.2458G= (p.Gly820=) | |
7 | g.150948501C>G | CA007067 | KCNH2 | n.3468G>C c.2635G>C (p.Gly879Arg) c.1615G>C (p.Gly539Arg) c.2335G>C (p.Gly779Arg) c.2485G>C (p.Gly829Arg) c.2458G>C (p.Gly820Arg) | ClinVar dbSNP |
7 | g.150948501C>T | CA369853790 | KCNH2 | n.3468G>A c.2635G>A (p.Gly879Ser) c.1615G>A (p.Gly539Ser) c.2335G>A (p.Gly779Ser) c.2485G>A (p.Gly829Ser) c.2458G>A (p.Gly820Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948502C>A | CA369853794 | KCNH2 | n.3467G>T c.2634G>T (p.Glu878Asp) c.1614G>T (p.Glu538Asp) c.2334G>T (p.Glu778Asp) c.2484G>T (p.Glu828Asp) c.2457G>T (p.Glu819Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948502C= | CA1752431455 | KCNH2 | n.3467G= c.2634G= (p.Glu878=) c.1614G= (p.Glu538=) c.2334G= (p.Glu778=) c.2484G= (p.Glu828=) c.2457G= (p.Glu819=) | |
7 | g.150948502C>G | CA369853795 | KCNH2 | n.3467G>C c.2634G>C (p.Glu878Asp) c.1614G>C (p.Glu538Asp) c.2334G>C (p.Glu778Asp) c.2484G>C (p.Glu828Asp) c.2457G>C (p.Glu819Asp) | |
7 | g.150948502C>T | CA458645010 | KCNH2 | n.3467G>A c.2634G>A (p.Glu878=) c.1614G>A (p.Glu538=) c.2334G>A (p.Glu778=) c.2484G>A (p.Glu828=) c.2457G>A (p.Glu819=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948503T>A | CA369853797 | KCNH2 | n.3466A>T c.2633A>T (p.Glu878Val) c.1613A>T (p.Glu538Val) c.2333A>T (p.Glu778Val) c.2483A>T (p.Glu828Val) c.2456A>T (p.Glu819Val) | |
7 | g.150948503T>C | CA369853799 | KCNH2 | n.3466A>G c.2633A>G (p.Glu878Gly) c.1613A>G (p.Glu538Gly) c.2333A>G (p.Glu778Gly) c.2483A>G (p.Glu828Gly) c.2456A>G (p.Glu819Gly) | |
7 | g.150948503T>G | CA369853801 | KCNH2 | n.3466A>C c.2633A>C (p.Glu878Ala) c.1613A>C (p.Glu538Ala) c.2333A>C (p.Glu778Ala) c.2483A>C (p.Glu828Ala) c.2456A>C (p.Glu819Ala) | |
7 | g.150948504C>A | CA369853803 | KCNH2 | n.3465G>T c.2632G>T (p.Glu878Ter) c.1612G>T (p.Glu538Ter) c.2332G>T (p.Glu778Ter) c.2482G>T (p.Glu828Ter) c.2455G>T (p.Glu819Ter) | |
7 | g.150948504C>G | CA369853804 | KCNH2 | n.3465G>C c.2632G>C (p.Glu878Gln) c.1612G>C (p.Glu538Gln) c.2332G>C (p.Glu778Gln) c.2482G>C (p.Glu828Gln) c.2455G>C (p.Glu819Gln) | |
7 | g.150948504C>T | CA369853807 | KCNH2 | n.3465G>A c.2632G>A (p.Glu878Lys) c.1612G>A (p.Glu538Lys) c.2332G>A (p.Glu778Lys) c.2482G>A (p.Glu828Lys) c.2455G>A (p.Glu819Lys) | |
7 | g.150948505T>A | CA369853809 | KCNH2 | n.3464A>T c.2631A>T (p.Leu877Phe) c.1611A>T (p.Leu537Phe) c.2331A>T (p.Leu777Phe) c.2481A>T (p.Leu827Phe) c.2454A>T (p.Leu818Phe) | |
7 | g.150948505T>C | CA458645012 | KCNH2 | n.3464A>G c.2631A>G (p.Leu877=) c.1611A>G (p.Leu537=) c.2331A>G (p.Leu777=) c.2481A>G (p.Leu827=) c.2454A>G (p.Leu818=) | ClinVar dbSNP gnomAD v2 |
7 | g.150948505T>G | CA369853811 | KCNH2 | n.3464A>C c.2631A>C (p.Leu877Phe) c.1611A>C (p.Leu537Phe) c.2331A>C (p.Leu777Phe) c.2481A>C (p.Leu827Phe) c.2454A>C (p.Leu818Phe) | |
7 | g.150948505T= | CA1752431457 | KCNH2 | n.3464A= c.2631A= (p.Leu877=) c.1611A= (p.Leu537=) c.2331A= (p.Leu777=) c.2481A= (p.Leu827=) c.2454A= (p.Leu818=) | |
7 | g.150948506A>C | CA369853815 | KCNH2 | n.3463T>G c.2630T>G (p.Leu877Ter) c.1610T>G (p.Leu537Ter) c.2330T>G (p.Leu777Ter) c.2480T>G (p.Leu827Ter) c.2453T>G (p.Leu818Ter) | |
7 | g.150948506A>G | CA369853816 | KCNH2 | n.3463T>C c.2630T>C (p.Leu877Ser) c.1610T>C (p.Leu537Ser) c.2330T>C (p.Leu777Ser) c.2480T>C (p.Leu827Ser) c.2453T>C (p.Leu818Ser) | |
7 | g.150948506A>T | CA369853813 | KCNH2 | n.3463T>A c.2630T>A (p.Leu877Ter) c.1610T>A (p.Leu537Ter) c.2330T>A (p.Leu777Ter) c.2480T>A (p.Leu827Ter) c.2453T>A (p.Leu818Ter) | |
7 | g.150948507A>C | CA369853818 | KCNH2 | n.3462T>G c.2629T>G (p.Leu877Val) c.1609T>G (p.Leu537Val) c.2329T>G (p.Leu777Val) c.2479T>G (p.Leu827Val) c.2452T>G (p.Leu818Val) | |
7 | g.150948507A>G | CA458645013 | KCNH2 | n.3462T>C c.2629T>C (p.Leu877=) c.1609T>C (p.Leu537=) c.2329T>C (p.Leu777=) c.2479T>C (p.Leu827=) c.2452T>C (p.Leu818=) | |
7 | g.150948507A>T | CA369853819 | KCNH2 | n.3462T>A c.2629T>A (p.Leu877Ile) c.1609T>A (p.Leu537Ile) c.2329T>A (p.Leu777Ile) c.2479T>A (p.Leu827Ile) c.2452T>A (p.Leu818Ile) | |
7 | g.150948508C>A | CA369853821 | KCNH2 | n.3461G>T c.2628G>T (p.Glu876Asp) c.1608G>T (p.Glu536Asp) c.2328G>T (p.Glu776Asp) c.2478G>T (p.Glu826Asp) c.2451G>T (p.Glu817Asp) | |
7 | g.150948508C>G | CA369853822 | KCNH2 | n.3461G>C c.2628G>C (p.Glu876Asp) c.1608G>C (p.Glu536Asp) c.2328G>C (p.Glu776Asp) c.2478G>C (p.Glu826Asp) c.2451G>C (p.Glu817Asp) | |
7 | g.150948508C>T | CA458645014 | KCNH2 | n.3461G>A c.2628G>A (p.Glu876=) c.1608G>A (p.Glu536=) c.2328G>A (p.Glu776=) c.2478G>A (p.Glu826=) c.2451G>A (p.Glu817=) | ClinVar |
7 | g.150948509T>A | CA369853828 | KCNH2 | n.3460A>T c.2627A>T (p.Glu876Val) c.1607A>T (p.Glu536Val) c.2327A>T (p.Glu776Val) c.2477A>T (p.Glu826Val) c.2450A>T (p.Glu817Val) | |
7 | g.150948509T>C | CA369853827 | KCNH2 | n.3460A>G c.2627A>G (p.Glu876Gly) c.1607A>G (p.Glu536Gly) c.2327A>G (p.Glu776Gly) c.2477A>G (p.Glu826Gly) c.2450A>G (p.Glu817Gly) | |
7 | g.150948509T>G | CA369853825 | KCNH2 | n.3460A>C c.2627A>C (p.Glu876Ala) c.1607A>C (p.Glu536Ala) c.2327A>C (p.Glu776Ala) c.2477A>C (p.Glu826Ala) c.2450A>C (p.Glu817Ala) | |
7 | g.150948510C>A | CA369853830 | KCNH2 | n.3459G>T c.2626G>T (p.Glu876Ter) c.1606G>T (p.Glu536Ter) c.2326G>T (p.Glu776Ter) c.2476G>T (p.Glu826Ter) c.2449G>T (p.Glu817Ter) | ClinVar dbSNP |
7 | g.150948510C= | CA1752431464 | KCNH2 | n.3459G= c.2626G= (p.Glu876=) c.1606G= (p.Glu536=) c.2326G= (p.Glu776=) c.2476G= (p.Glu826=) c.2449G= (p.Glu817=) | |
7 | g.150948510C>G | CA369853832 | KCNH2 | n.3459G>C c.2626G>C (p.Glu876Gln) c.1606G>C (p.Glu536Gln) c.2326G>C (p.Glu776Gln) c.2476G>C (p.Glu826Gln) c.2449G>C (p.Glu817Gln) | |
7 | g.150948510C>T | CA369853833 | KCNH2 | n.3459G>A c.2626G>A (p.Glu876Lys) c.1606G>A (p.Glu536Lys) c.2326G>A (p.Glu776Lys) c.2476G>A (p.Glu826Lys) c.2449G>A (p.Glu817Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.150948513_150948520dup | CA658761325 | KCNH2 | n.3452_3459dup c.2619_2626dup (p.Glu876AlafsTer5) c.1599_1606dup (p.Glu536AlafsTer5) c.2319_2326dup (p.Glu776AlafsTer5) c.2469_2476dup (p.Glu826AlafsTer5) c.2442_2449dup (p.Glu817AlafsTer5) |