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.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.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.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.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.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.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.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.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.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.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.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.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.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) | |
7 | g.150948511C>A | CA458645016 | KCNH2 | n.3458G>T c.2625G>T (p.Thr875=) c.1605G>T (p.Thr535=) c.2325G>T (p.Thr775=) c.2475G>T (p.Thr825=) c.2448G>T (p.Thr816=) | |
7 | g.150948511C= | CA1752431470 | KCNH2 | n.3458G= c.2625G= (p.Thr875=) c.1605G= (p.Thr535=) c.2325G= (p.Thr775=) c.2475G= (p.Thr825=) c.2448G= (p.Thr816=) | |
7 | g.150948511C>G | CA458645017 | KCNH2 | n.3458G>C c.2625G>C (p.Thr875=) c.1605G>C (p.Thr535=) c.2325G>C (p.Thr775=) c.2475G>C (p.Thr825=) c.2448G>C (p.Thr816=) | |
7 | g.150948511C>T | CA033558 | KCNH2 | n.3458G>A c.2625G>A (p.Thr875=) c.1605G>A (p.Thr535=) c.2325G>A (p.Thr775=) c.2475G>A (p.Thr825=) c.2448G>A (p.Thr816=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948512G>A | CA007057 | KCNH2 | n.3457C>T c.2624C>T (p.Thr875Met) c.1604C>T (p.Thr535Met) c.2324C>T (p.Thr775Met) c.2474C>T (p.Thr825Met) c.2447C>T (p.Thr816Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948512G>C | CA369853837 | KCNH2 | n.3457C>G c.2624C>G (p.Thr875Arg) c.1604C>G (p.Thr535Arg) c.2324C>G (p.Thr775Arg) c.2474C>G (p.Thr825Arg) c.2447C>G (p.Thr816Arg) | ClinVar dbSNP |
7 | g.150948512G= | CA1752431478 | KCNH2 | n.3457C= c.2624C= (p.Thr875=) c.1604C= (p.Thr535=) c.2324C= (p.Thr775=) c.2474C= (p.Thr825=) c.2447C= (p.Thr816=) | |
7 | g.150948512G>T | CA369853839 | KCNH2 | n.3457C>A c.2624C>A (p.Thr875Lys) c.1604C>A (p.Thr535Lys) c.2324C>A (p.Thr775Lys) c.2474C>A (p.Thr825Lys) c.2447C>A (p.Thr816Lys) | |
7 | g.150948513_150948517dup | CA2695208819 | KCNH2 | n.3453_3457dup c.2620_2624dup (p.Glu876ValfsTer4) c.1600_1604dup (p.Glu536ValfsTer4) c.2320_2324dup (p.Glu776ValfsTer4) c.2470_2474dup (p.Glu826ValfsTer4) c.2443_2447dup (p.Glu817ValfsTer4) | |
7 | g.150948513T>A | CA369853843 | KCNH2 | n.3456A>T c.2623A>T (p.Thr875Ser) c.1603A>T (p.Thr535Ser) c.2323A>T (p.Thr775Ser) c.2473A>T (p.Thr825Ser) c.2446A>T (p.Thr816Ser) | gnomAD v4 |
7 | g.150948513T>C | CA369853845 | KCNH2 | n.3456A>G c.2623A>G (p.Thr875Ala) c.1603A>G (p.Thr535Ala) c.2323A>G (p.Thr775Ala) c.2473A>G (p.Thr825Ala) c.2446A>G (p.Thr816Ala) | |
7 | g.150948513T>G | CA369853841 | KCNH2 | n.3456A>C c.2623A>C (p.Thr875Pro) c.1603A>C (p.Thr535Pro) c.2323A>C (p.Thr775Pro) c.2473A>C (p.Thr825Pro) c.2446A>C (p.Thr816Pro) | gnomAD v4 |
7 | g.150948514A= | CA1752431482 | KCNH2 | n.3455T= c.2622T= (p.Ser874=) c.1602T= (p.Ser534=) c.2322T= (p.Ser774=) c.2472T= (p.Ser824=) c.2445T= (p.Ser815=) | |
7 | g.150948514A>C | CA369853847 | KCNH2 | n.3455T>G c.2622T>G (p.Ser874Arg) c.1602T>G (p.Ser534Arg) c.2322T>G (p.Ser774Arg) c.2472T>G (p.Ser824Arg) c.2445T>G (p.Ser815Arg) | |
7 | g.150948514A>G | CA458645018 | KCNH2 | n.3455T>C c.2622T>C (p.Ser874=) c.1602T>C (p.Ser534=) c.2322T>C (p.Ser774=) c.2472T>C (p.Ser824=) c.2445T>C (p.Ser815=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948514A>T | CA369853849 | KCNH2 | n.3455T>A c.2622T>A (p.Ser874Arg) c.1602T>A (p.Ser534Arg) c.2322T>A (p.Ser774Arg) c.2472T>A (p.Ser824Arg) c.2445T>A (p.Ser815Arg) | |
7 | g.150948514_150948519dup | CA2685600520 | KCNH2 | n.3450_3455dup c.2617_2622dup (p.Ser874_Thr875insGlySer) c.1597_1602dup (p.Ser534_Thr535insGlySer) c.2317_2322dup (p.Ser774_Thr775insGlySer) c.2467_2472dup (p.Ser824_Thr825insGlySer) c.2440_2445dup (p.Ser815_Thr816insGlySer) | gnomAD v4 |
7 | g.150948515C>A | CA369853851 | KCNH2 | n.3454G>T c.2621G>T (p.Ser874Ile) c.1601G>T (p.Ser534Ile) c.2321G>T (p.Ser774Ile) c.2471G>T (p.Ser824Ile) c.2444G>T (p.Ser815Ile) | gnomAD v4 |
7 | g.150948515C>G | CA369853853 | KCNH2 | n.3454G>C c.2621G>C (p.Ser874Thr) c.1601G>C (p.Ser534Thr) c.2321G>C (p.Ser774Thr) c.2471G>C (p.Ser824Thr) c.2444G>C (p.Ser815Thr) | |
7 | g.150948515C>T | CA369853855 | KCNH2 | n.3454G>A c.2621G>A (p.Ser874Asn) c.1601G>A (p.Ser534Asn) c.2321G>A (p.Ser774Asn) c.2471G>A (p.Ser824Asn) c.2444G>A (p.Ser815Asn) | |
7 | g.150948516T>A | CA369853857 | KCNH2 | n.3453A>T c.2620A>T (p.Ser874Cys) c.1600A>T (p.Ser534Cys) c.2320A>T (p.Ser774Cys) c.2470A>T (p.Ser824Cys) c.2443A>T (p.Ser815Cys) | |
7 | g.150948516T>C | CA369853859 | KCNH2 | n.3453A>G c.2620A>G (p.Ser874Gly) c.1600A>G (p.Ser534Gly) c.2320A>G (p.Ser774Gly) c.2470A>G (p.Ser824Gly) c.2443A>G (p.Ser815Gly) | |
7 | g.150948516T>G | CA369853861 | KCNH2 | n.3453A>C c.2620A>C (p.Ser874Arg) c.1600A>C (p.Ser534Arg) c.2320A>C (p.Ser774Arg) c.2470A>C (p.Ser824Arg) c.2443A>C (p.Ser815Arg) | ClinVar |
7 | g.150948517G>A | CA458645019 | KCNH2 | n.3452C>T c.2619C>T (p.Gly873=) c.1599C>T (p.Gly533=) c.2319C>T (p.Gly773=) c.2469C>T (p.Gly823=) c.2442C>T (p.Gly814=) | |
7 | g.150948517G>C | CA458645020 | KCNH2 | n.3452C>G c.2619C>G (p.Gly873=) c.1599C>G (p.Gly533=) c.2319C>G (p.Gly773=) c.2469C>G (p.Gly823=) c.2442C>G (p.Gly814=) | |
7 | g.150948517G>T | CA458645021 | KCNH2 | n.3452C>A c.2619C>A (p.Gly873=) c.1599C>A (p.Gly533=) c.2319C>A (p.Gly773=) c.2469C>A (p.Gly823=) c.2442C>A (p.Gly814=) | |
7 | g.150948518C>A | CA369853863 | KCNH2 | n.3451G>T c.2618G>T (p.Gly873Val) c.1598G>T (p.Gly533Val) c.2318G>T (p.Gly773Val) c.2468G>T (p.Gly823Val) c.2441G>T (p.Gly814Val) | |
7 | g.150948518C>G | CA369853867 | KCNH2 | n.3451G>C c.2618G>C (p.Gly873Ala) c.1598G>C (p.Gly533Ala) c.2318G>C (p.Gly773Ala) c.2468G>C (p.Gly823Ala) c.2441G>C (p.Gly814Ala) | |
7 | g.150948518C>T | CA369853865 | KCNH2 | n.3451G>A c.2618G>A (p.Gly873Asp) c.1598G>A (p.Gly533Asp) c.2318G>A (p.Gly773Asp) c.2468G>A (p.Gly823Asp) c.2441G>A (p.Gly814Asp) | |
7 | g.150948519C>A | CA033518 | KCNH2 | n.3450G>T c.2617G>T (p.Gly873Cys) c.1597G>T (p.Gly533Cys) c.2317G>T (p.Gly773Cys) c.2467G>T (p.Gly823Cys) c.2440G>T (p.Gly814Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150948519C= | CA1752431487 | KCNH2 | n.3450G= c.2617G= (p.Gly873=) c.1597G= (p.Gly533=) c.2317G= (p.Gly773=) c.2467G= (p.Gly823=) c.2440G= (p.Gly814=) | |
7 | g.150948519C>G | CA369853870 | KCNH2 | n.3450G>C c.2617G>C (p.Gly873Arg) c.1597G>C (p.Gly533Arg) c.2317G>C (p.Gly773Arg) c.2467G>C (p.Gly823Arg) c.2440G>C (p.Gly814Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150948519C>T | CA007051 | KCNH2 | n.3450G>A c.2617G>A (p.Gly873Ser) c.1597G>A (p.Gly533Ser) c.2317G>A (p.Gly773Ser) c.2467G>A (p.Gly823Ser) c.2440G>A (p.Gly814Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948519_150948523del | CA2695208820 | KCNH2 | n.3446_3450del c.2613_2617del (p.Pro872GlnfsTer?) c.1593_1597del (p.Pro532GlnfsTer?) c.2313_2317del (p.Pro772GlnfsTer?) c.2463_2467del (p.Pro822GlnfsTer?) c.2436_2440del (p.Pro813GlnfsTer?) | |
7 | g.150948520G>A | CA033489 | KCNH2 | n.3449C>T c.2616C>T (p.Pro872=) c.1596C>T (p.Pro532=) c.2316C>T (p.Pro772=) c.2466C>T (p.Pro822=) c.2439C>T (p.Pro813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948520G>C | CA458645022 | KCNH2 | n.3449C>G c.2616C>G (p.Pro872=) c.1596C>G (p.Pro532=) c.2316C>G (p.Pro772=) c.2466C>G (p.Pro822=) c.2439C>G (p.Pro813=) | |
7 | g.150948520G= | CA1752431494 | KCNH2 | n.3449C= c.2616C= (p.Pro872=) c.1596C= (p.Pro532=) c.2316C= (p.Pro772=) c.2466C= (p.Pro822=) c.2439C= (p.Pro813=) | |
7 | g.150948520G>T | CA458645023 | KCNH2 | n.3449C>A c.2616C>A (p.Pro872=) c.1596C>A (p.Pro532=) c.2316C>A (p.Pro772=) c.2466C>A (p.Pro822=) c.2439C>A (p.Pro813=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948524dup | CA915945572 | KCNH2 | n.3449dup c.2616dup (p.Gly873ArgfsTer?) c.1596dup (p.Gly533ArgfsTer?) c.2316dup (p.Gly773ArgfsTer?) c.2466dup (p.Gly823ArgfsTer?) c.2439dup (p.Gly814ArgfsTer?) | ClinVar dbSNP |
7 | g.150948524del | CA2579062628 | KCNH2 | n.3449del c.2616del (p.Gly873AlafsTer5) c.1596del (p.Gly533AlafsTer5) c.2316del (p.Gly773AlafsTer5) c.2466del (p.Gly823AlafsTer5) c.2439del (p.Gly814AlafsTer5) | gnomAD v4 |
7 | g.150948521G>A | CA369853874 | KCNH2 | n.3448C>T c.2615C>T (p.Pro872Leu) c.1595C>T (p.Pro532Leu) c.2315C>T (p.Pro772Leu) c.2465C>T (p.Pro822Leu) c.2438C>T (p.Pro813Leu) | |
7 | g.150948521G>C | CA369853877 | KCNH2 | n.3448C>G c.2615C>G (p.Pro872Arg) c.1595C>G (p.Pro532Arg) c.2315C>G (p.Pro772Arg) c.2465C>G (p.Pro822Arg) c.2438C>G (p.Pro813Arg) | |
7 | g.150948521G>T | CA369853875 | KCNH2 | n.3448C>A c.2615C>A (p.Pro872His) c.1595C>A (p.Pro532His) c.2315C>A (p.Pro772His) c.2465C>A (p.Pro822His) c.2438C>A (p.Pro813His) | gnomAD v4 |
7 | g.150948522G>A | CA369853879 | KCNH2 | n.3447C>T c.2614C>T (p.Pro872Ser) c.1594C>T (p.Pro532Ser) c.2314C>T (p.Pro772Ser) c.2464C>T (p.Pro822Ser) c.2437C>T (p.Pro813Ser) | |
7 | g.150948522G>C | CA369853881 | KCNH2 | n.3447C>G c.2614C>G (p.Pro872Ala) c.1594C>G (p.Pro532Ala) c.2314C>G (p.Pro772Ala) c.2464C>G (p.Pro822Ala) c.2437C>G (p.Pro813Ala) | gnomAD v4 |
7 | g.150948522G>T | CA369853883 | KCNH2 | n.3447C>A c.2614C>A (p.Pro872Thr) c.1594C>A (p.Pro532Thr) c.2314C>A (p.Pro772Thr) c.2464C>A (p.Pro822Thr) c.2437C>A (p.Pro813Thr) | ClinVar |
7 | g.150948526_150948533dup | CA2695208821 | KCNH2 | n.3440_3447dup c.2607_2614dup (p.Pro872ArgfsTer9) c.1587_1594dup (p.Pro532ArgfsTer9) c.2307_2314dup (p.Pro772ArgfsTer9) c.2457_2464dup (p.Pro822ArgfsTer9) c.2430_2437dup (p.Pro813ArgfsTer9) | |
7 | g.150948523G>A | CA458645027 | KCNH2 | n.3446C>T c.2613C>T (p.Ser871=) c.1593C>T (p.Ser531=) c.2313C>T (p.Ser771=) c.2463C>T (p.Ser821=) c.2436C>T (p.Ser812=) | ClinVar dbSNP gnomAD v4 |
7 | g.150948523G>C | CA458645028 | KCNH2 | n.3446C>G c.2613C>G (p.Ser871=) c.1593C>G (p.Ser531=) c.2313C>G (p.Ser771=) c.2463C>G (p.Ser821=) c.2436C>G (p.Ser812=) | |
7 | g.150948523G= | CA1752431505 | KCNH2 | n.3446C= c.2613C= (p.Ser871=) c.1593C= (p.Ser531=) c.2313C= (p.Ser771=) c.2463C= (p.Ser821=) c.2436C= (p.Ser812=) | |
7 | g.150948523G>T | CA458645029 | KCNH2 | n.3446C>A c.2613C>A (p.Ser871=) c.1593C>A (p.Ser531=) c.2313C>A (p.Ser771=) c.2463C>A (p.Ser821=) c.2436C>A (p.Ser812=) | gnomAD v4 |
7 | g.150948524G>A | CA369853885 | KCNH2 | n.3445C>T c.2612C>T (p.Ser871Phe) c.1592C>T (p.Ser531Phe) c.2312C>T (p.Ser771Phe) c.2462C>T (p.Ser821Phe) c.2435C>T (p.Ser812Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948524G>C | CA369853887 | KCNH2 | n.3445C>G c.2612C>G (p.Ser871Cys) c.1592C>G (p.Ser531Cys) c.2312C>G (p.Ser771Cys) c.2462C>G (p.Ser821Cys) c.2435C>G (p.Ser812Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.150948524G= | CA1752431510 | KCNH2 | n.3445C= c.2612C= (p.Ser871=) c.1592C= (p.Ser531=) c.2312C= (p.Ser771=) c.2462C= (p.Ser821=) c.2435C= (p.Ser812=) | |
7 | g.150948524G>T | CA369853889 | KCNH2 | n.3445C>A c.2612C>A (p.Ser871Tyr) c.1592C>A (p.Ser531Tyr) c.2312C>A (p.Ser771Tyr) c.2462C>A (p.Ser821Tyr) c.2435C>A (p.Ser812Tyr) | |
7 | g.150948525A= | CA1752431516 | KCNH2 | n.3444T= c.2611T= (p.Ser871=) c.1591T= (p.Ser531=) c.2311T= (p.Ser771=) c.2461T= (p.Ser821=) c.2434T= (p.Ser812=) | |
7 | g.150948525A>C | CA169073230 | KCNH2 | n.3444T>G c.2611T>G (p.Ser871Ala) c.1591T>G (p.Ser531Ala) c.2311T>G (p.Ser771Ala) c.2461T>G (p.Ser821Ala) c.2434T>G (p.Ser812Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150948525A>G | CA369853892 | KCNH2 | n.3444T>C c.2611T>C (p.Ser871Pro) c.1591T>C (p.Ser531Pro) c.2311T>C (p.Ser771Pro) c.2461T>C (p.Ser821Pro) c.2434T>C (p.Ser812Pro) | |
7 | g.150948525A>T | CA369853894 | KCNH2 | n.3444T>A c.2611T>A (p.Ser871Thr) c.1591T>A (p.Ser531Thr) c.2311T>A (p.Ser771Thr) c.2461T>A (p.Ser821Thr) c.2434T>A (p.Ser812Thr) | gnomAD v4 |
7 | g.150948526G>A | CA458645030 | KCNH2 | n.3443C>T c.2610C>T (p.Gly870=) c.1590C>T (p.Gly530=) c.2310C>T (p.Gly770=) c.2460C>T (p.Gly820=) c.2433C>T (p.Gly811=) | |
7 | g.150948526G>C | CA458645031 | KCNH2 | n.3443C>G c.2610C>G (p.Gly870=) c.1590C>G (p.Gly530=) c.2310C>G (p.Gly770=) c.2460C>G (p.Gly820=) c.2433C>G (p.Gly811=) | ClinVar dbSNP |
7 | g.150948526G>T | CA458645032 | KCNH2 | n.3443C>A c.2610C>A (p.Gly870=) c.1590C>A (p.Gly530=) c.2310C>A (p.Gly770=) c.2460C>A (p.Gly820=) c.2433C>A (p.Gly811=) | |
7 | g.150948527C>A | CA369853897 | KCNH2 | n.3442G>T c.2609G>T (p.Gly870Val) c.1589G>T (p.Gly530Val) c.2309G>T (p.Gly770Val) c.2459G>T (p.Gly820Val) c.2432G>T (p.Gly811Val) | gnomAD v4 |
7 | g.150948527C>G | CA369853898 | KCNH2 | n.3442G>C c.2609G>C (p.Gly870Ala) c.1589G>C (p.Gly530Ala) c.2309G>C (p.Gly770Ala) c.2459G>C (p.Gly820Ala) c.2432G>C (p.Gly811Ala) | |
7 | g.150948527C>T | CA369853901 | KCNH2 | n.3442G>A c.2609G>A (p.Gly870Asp) c.1589G>A (p.Gly530Asp) c.2309G>A (p.Gly770Asp) c.2459G>A (p.Gly820Asp) c.2432G>A (p.Gly811Asp) | gnomAD v4 |
7 | g.150948529del | CA2685600524 | KCNH2 | n.3442del c.2609del (p.Gly870AlafsTer8) c.1589del (p.Gly530AlafsTer8) c.2309del (p.Gly770AlafsTer8) c.2459del (p.Gly820AlafsTer8) c.2432del (p.Gly811AlafsTer8) | gnomAD v4 |
7 | g.150948528C>A | CA369853903 | KCNH2 | n.3441G>T c.2608G>T (p.Gly870Cys) c.1588G>T (p.Gly530Cys) c.2308G>T (p.Gly770Cys) c.2458G>T (p.Gly820Cys) c.2431G>T (p.Gly811Cys) | COSMIC |
7 | g.150948528C>G | CA369853907 | KCNH2 | n.3441G>C c.2608G>C (p.Gly870Arg) c.1588G>C (p.Gly530Arg) c.2308G>C (p.Gly770Arg) c.2458G>C (p.Gly820Arg) c.2431G>C (p.Gly811Arg) | |
7 | g.150948528C>T | CA369853905 | KCNH2 | n.3441G>A c.2608G>A (p.Gly870Ser) c.1588G>A (p.Gly530Ser) c.2308G>A (p.Gly770Ser) c.2458G>A (p.Gly820Ser) c.2431G>A (p.Gly811Ser) | ClinVar |
7 | g.150948529C>A | CA458645033 | KCNH2 | n.3440G>T c.2607G>T (p.Pro869=) c.1587G>T (p.Pro529=) c.2307G>T (p.Pro769=) c.2457G>T (p.Pro819=) c.2430G>T (p.Pro810=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150948529C= | CA1752431517 | KCNH2 | n.3440G= c.2607G= (p.Pro869=) c.1587G= (p.Pro529=) c.2307G= (p.Pro769=) c.2457G= (p.Pro819=) c.2430G= (p.Pro810=) | |
7 | g.150948529C>G | CA458645034 | KCNH2 | n.3440G>C c.2607G>C (p.Pro869=) c.1587G>C (p.Pro529=) c.2307G>C (p.Pro769=) c.2457G>C (p.Pro819=) c.2430G>C (p.Pro810=) | |
7 | g.150948529C>T | CA007033 | KCNH2 | n.3440G>A c.2607G>A (p.Pro869=) c.1587G>A (p.Pro529=) c.2307G>A (p.Pro769=) c.2457G>A (p.Pro819=) c.2430G>A (p.Pro810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948530G>A | CA007025 | KCNH2 | n.3439C>T c.2606C>T (p.Pro869Leu) c.1586C>T (p.Pro529Leu) c.2306C>T (p.Pro769Leu) c.2456C>T (p.Pro819Leu) c.2429C>T (p.Pro810Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948530G>C | CA369853911 | KCNH2 | n.3439C>G c.2606C>G (p.Pro869Arg) c.1586C>G (p.Pro529Arg) c.2306C>G (p.Pro769Arg) c.2456C>G (p.Pro819Arg) c.2429C>G (p.Pro810Arg) | |
7 | g.150948530G= | CA1752431520 | KCNH2 | n.3439C= c.2606C= (p.Pro869=) c.1586C= (p.Pro529=) c.2306C= (p.Pro769=) c.2456C= (p.Pro819=) c.2429C= (p.Pro810=) | |
7 | g.150948530G>T | CA369853912 | KCNH2 | n.3439C>A c.2606C>A (p.Pro869Gln) c.1586C>A (p.Pro529Gln) c.2306C>A (p.Pro769Gln) c.2456C>A (p.Pro819Gln) c.2429C>A (p.Pro810Gln) | |
7 | g.150948531G>A | CA369853914 | KCNH2 | n.3438C>T c.2605C>T (p.Pro869Ser) c.1585C>T (p.Pro529Ser) c.2305C>T (p.Pro769Ser) c.2455C>T (p.Pro819Ser) c.2428C>T (p.Pro810Ser) | COSMIC COSMIC |
7 | g.150948531G>C | CA369853916 | KCNH2 | n.3438C>G c.2605C>G (p.Pro869Ala) c.1585C>G (p.Pro529Ala) c.2305C>G (p.Pro769Ala) c.2455C>G (p.Pro819Ala) c.2428C>G (p.Pro810Ala) | |
7 | g.150948531G>T | CA369853918 | KCNH2 | n.3438C>A c.2605C>A (p.Pro869Thr) c.1585C>A (p.Pro529Thr) c.2305C>A (p.Pro769Thr) c.2455C>A (p.Pro819Thr) c.2428C>A (p.Pro810Thr) | |
7 | g.150948533_150948542del | CA2695208822 | KCNH2 | n.3429_3438del c.2596_2605del (p.Asn866ArgfsTer9) c.1576_1585del (p.Asn526ArgfsTer9) c.2296_2305del (p.Asn766ArgfsTer9) c.2446_2455del (p.Asn816ArgfsTer9) c.2419_2428del (p.Asn807ArgfsTer9) | |
7 | g.150948532G>A | CA033422 | KCNH2 | n.3437C>T c.2604C>T (p.Ile868=) c.1584C>T (p.Ile528=) c.2304C>T (p.Ile768=) c.2454C>T (p.Ile818=) c.2427C>T (p.Ile809=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948532G>C | CA369853921 | KCNH2 | n.3437C>G c.2604C>G (p.Ile868Met) c.1584C>G (p.Ile528Met) c.2304C>G (p.Ile768Met) c.2454C>G (p.Ile818Met) c.2427C>G (p.Ile809Met) | |
7 | g.150948532G= | CA1752431523 | KCNH2 | n.3437C= c.2604C= (p.Ile868=) c.1584C= (p.Ile528=) c.2304C= (p.Ile768=) c.2454C= (p.Ile818=) c.2427C= (p.Ile809=) | |
7 | g.150948532G>T | CA458645038 | KCNH2 | n.3437C>A c.2604C>A (p.Ile868=) c.1584C>A (p.Ile528=) c.2304C>A (p.Ile768=) c.2454C>A (p.Ile818=) c.2427C>A (p.Ile809=) |