| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150974747_150974813del | CA2580077678 | KCNH2 | c.205_271del (p.Leu69SerfsTer25) c.28_94del (p.Leu10SerfsTer25) n.428_494del | ClinVar |
| 7 | g.150974773_150974781dup | CA305342 | KCNH2 | c.244_252dup (p.Gln84_Ala85insIleAlaGln) c.67_75dup (p.Gln25_Ala26insIleAlaGln) n.467_475dup | ClinVar dbSNP |
| 7 | g.150974773_150974781del | CA658761345 | KCNH2 | c.244_252del (p.Ile82_Gln84del) c.67_75del (p.Ile23_Gln25del) n.467_475del | |
| 7 | g.150974766_150974797delinsCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG | CA1752462036 | KCNH2 | c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG (p.Thr74=) c.44_75delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG (p.Thr15=) n.444_475delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG | |
| 7 | g.150974767_150974786delinsTGCGCGATCTGCGCGGCAGC | CA1752462046 | KCNH2 | c.232_251delinsGCTGCCGCGCAGATCGCGCA (p.Ala78=) c.55_74delinsGCTGCCGCGCAGATCGCGCA (p.Ala19=) n.455_474delinsGCTGCCGCGCAGATCGCGCA | |
| 7 | g.150974773_150974803del | CA658761346 | KCNH2 | c.221_251del (p.Thr74ArgfsTer?) c.44_74del (p.Thr15ArgfsTer?) n.444_474del | ClinVar dbSNP |
| 7 | g.150974773_150974789dup | CA915945557 | KCNH2 | c.234_250dup (p.Gln84LeufsTer?) c.57_73dup (p.Gln25LeufsTer?) n.457_473dup | ClinVar dbSNP |
| 7 | g.150974771_150974789del | CA915945558 | KCNH2 | c.232_250del (p.Ala78ArgfsTer?) c.55_73del (p.Ala19ArgfsTer?) n.455_473del | ClinVar dbSNP |
| 7 | g.150974776_150974783del | CA2695208658 | KCNH2 | c.236_243del (p.Ala79AspfsTer?) c.59_66del (p.Ala20AspfsTer?) n.459_466del | |
| 7 | g.150974775_150974797delinsCTGCGCGGCAGCGCGGCGCTGCG | CA1752462112 | KCNH2 | c.221_243delinsCGCAGCGCCGCGCTGCCGCGCAG (p.Thr74=) c.44_66delinsCGCAGCGCCGCGCTGCCGCGCAG (p.Thr15=) n.444_466delinsCGCAGCGCCGCGCTGCCGCGCAG | |
| 7 | g.150974776_150974784delinsTGCGCGGCA | CA1752462117 | KCNH2 | c.234_242delinsTGCCGCGCA (p.Ala78=) c.57_65delinsTGCCGCGCA (p.Ala19=) n.457_465delinsTGCCGCGCA | |
| 7 | g.150974784_150974805del | CA835213821 | KCNH2 | c.221_242del (p.Thr74ArgfsTer?) c.44_65del (p.Thr15ArgfsTer?) n.444_465del | ClinVar dbSNP |
| 7 | g.150974784_150974791dup | CA2695208660 | KCNH2 | c.234_241dup (p.Gln81LeufsTer?) c.57_64dup (p.Gln22LeufsTer?) n.457_464dup | |
| 7 | g.150974784_150974791del | CA10587645 | KCNH2 | c.234_241del (p.Ala79AspfsTer?) c.57_64del (p.Ala20AspfsTer?) n.457_464del | ClinVar dbSNP gnomAD v4 |
| 7 | g.150974779G>A | CA006696 | KCNH2 | c.239C>T (p.Ala80Val) c.62C>T (p.Ala21Val) n.462C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.150974779G>C | CA369865505 | KCNH2 | c.239C>G (p.Ala80Gly) c.62C>G (p.Ala21Gly) n.462C>G | ClinVar |
| 7 | g.150974779G= | CA1752462133 | KCNH2 | c.239C= (p.Ala80=) c.62C= (p.Ala21=) n.462C= | |
| 7 | g.150974779G>T | CA369865507 | KCNH2 | c.239C>A (p.Ala80Glu) c.62C>A (p.Ala21Glu) n.462C>A | |
| 7 | g.150974780C>A | CA369865509 | KCNH2 | c.238G>T (p.Ala80Ser) c.61G>T (p.Ala21Ser) n.461G>T | ClinVar gnomAD v4 |
| 7 | g.150974780C= | CA1752462144 | KCNH2 | c.238G= (p.Ala80=) c.61G= (p.Ala21=) n.461G= | |
| 7 | g.150974780C>G | CA006562 | KCNH2 | c.238G>C (p.Ala80Pro) c.61G>C (p.Ala21Pro) n.461G>C | ClinVar dbSNP |
| 7 | g.150974780C>T | CA369865511 | KCNH2 | c.238G>A (p.Ala80Thr) c.61G>A (p.Ala21Thr) n.461G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.150974781G>A | CA072422 | KCNH2 | c.237C>T (p.Ala79=) c.60C>T (p.Ala20=) n.460C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150974781G>C | CA16612128 | KCNH2 | c.237C>G (p.Ala79=) c.60C>G (p.Ala20=) n.460C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150974781G= | CA1752462152 | KCNH2 | c.237C= (p.Ala79=) c.60C= (p.Ala20=) n.460C= | |
| 7 | g.150974781G>T | CA072287 | KCNH2 | c.237C>A (p.Ala79=) c.60C>A (p.Ala20=) n.460C>A | ClinVar dbSNP |
| 7 | g.150974782_150974814del | CA2695208662 | KCNH2 | c.205_237del (p.Leu69_Ala79del) c.28_60del (p.Leu10_Ala20del) n.428_460del | |
| 7 | g.150974782G>A | CA369865514 | KCNH2 | c.236C>T (p.Ala79Val) c.59C>T (p.Ala20Val) n.459C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150974782G>C | CA369865515 | KCNH2 | c.236C>G (p.Ala79Gly) c.59C>G (p.Ala20Gly) n.459C>G | |
| 7 | g.150974782G= | CA1752462156 | KCNH2 | c.236C= (p.Ala79=) c.59C= (p.Ala20=) n.459C= | |
| 7 | g.150974782G>T | CA369865517 | KCNH2 | c.236C>A (p.Ala79Asp) c.59C>A (p.Ala20Asp) n.459C>A | gnomAD v4 |
| 7 | g.150974783C>A | CA369865523 | KCNH2 | c.235G>T (p.Ala79Ser) c.58G>T (p.Ala20Ser) n.458G>T | ClinVar dbSNP |
| 7 | g.150974783C= | CA1752462167 | KCNH2 | c.235G= (p.Ala79=) c.58G= (p.Ala20=) n.458G= | |
| 7 | g.150974783C>G | CA006486 | KCNH2 | c.235G>C (p.Ala79Pro) c.58G>C (p.Ala20Pro) n.458G>C | ClinVar dbSNP |
| 7 | g.150974783C>T | CA369865519 | KCNH2 | c.235G>A (p.Ala79Thr) c.58G>A (p.Ala20Thr) n.458G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150974784A>C | CA458871838 | KCNH2 | c.234T>G (p.Ala78=) c.57T>G (p.Ala19=) n.457T>G | |
| 7 | g.150974784A>G | CA458871840 | KCNH2 | c.234T>C (p.Ala78=) c.57T>C (p.Ala19=) n.457T>C | |
| 7 | g.150974784A>T | CA458871841 | KCNH2 | c.234T>A (p.Ala78=) c.57T>A (p.Ala19=) n.457T>A | |
| 7 | g.150974785G>A | CA369865525 | KCNH2 | c.233C>T (p.Ala78Val) c.56C>T (p.Ala19Val) n.456C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.150974785G>C | CA369865527 | KCNH2 | c.233C>G (p.Ala78Gly) c.56C>G (p.Ala19Gly) n.456C>G | |
| 7 | g.150974785G= | CA1752462184 | KCNH2 | c.233C= (p.Ala78=) c.56C= (p.Ala19=) n.456C= | |
| 7 | g.150974785G>T | CA369865529 | KCNH2 | c.233C>A (p.Ala78Asp) c.56C>A (p.Ala19Asp) n.456C>A | gnomAD v4 |
| 7 | g.150974792_150974805del | CA2573141816 | KCNH2 | c.220_233del (p.Thr74CysfsTer?) c.43_56del (p.Thr15CysfsTer?) n.443_456del | ClinVar dbSNP |
| 7 | g.150974786C>A | CA369865531 | KCNH2 | c.232G>T (p.Ala78Ser) c.55G>T (p.Ala19Ser) n.455G>T | |
| 7 | g.150974786C= | CA1752462189 | KCNH2 | c.232G= (p.Ala78=) c.55G= (p.Ala19=) n.455G= | |
| 7 | g.150974786C>G | CA006454 | KCNH2 | c.232G>C (p.Ala78Pro) c.55G>C (p.Ala19Pro) n.455G>C | ClinVar dbSNP |
| 7 | g.150974786C>T | CA369865533 | KCNH2 | c.232G>A (p.Ala78Thr) c.55G>A (p.Ala19Thr) n.455G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.150974787G>A | CA458871851 | KCNH2 | c.231C>T (p.Arg77=) c.54C>T (p.Arg18=) n.454C>T | |
| 7 | g.150974787G>C | CA072240 | KCNH2 | c.231C>G (p.Arg77=) c.54C>G (p.Arg18=) n.454C>G | |
| 7 | g.150974787G>T | CA458871855 | KCNH2 | c.231C>A (p.Arg77=) c.54C>A (p.Arg18=) n.454C>A |