Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60741649_60741657del | CA2780519510 | CHD7 | n.730_738del c.217_225del (p.Asn73_Tyr75del) | |
8 | g.60741654del | CA2695209546 | CHD7 | n.735del c.222del (p.Gln74HisfsTer9) | |
8 | g.60741654G>A | CA461103135 | CHD7 | n.735G>A c.222G>A (p.Gln74=) | gnomAD v4 |
8 | g.60741654G>C | CA371296533 | CHD7 | n.735G>C c.222G>C (p.Gln74His) | |
8 | g.60741654G>T | CA371296536 | CHD7 | n.735G>T c.222G>T (p.Gln74His) | |
8 | g.60741655T>A | CA371296539 | CHD7 | n.736T>A c.223T>A (p.Tyr75Asn) | |
8 | g.60741655T>C | CA371296543 | CHD7 | n.736T>C c.223T>C (p.Tyr75His) | COSMIC |
8 | g.60741655T>G | CA371296549 | CHD7 | n.736T>G c.223T>G (p.Tyr75Asp) | |
8 | g.60741656A>C | CA371296552 | CHD7 | n.737A>C c.224A>C (p.Tyr75Ser) | |
8 | g.60741656A>G | CA371296557 | CHD7 | n.737A>G c.224A>G (p.Tyr75Cys) | |
8 | g.60741656A>T | CA371296560 | CHD7 | n.737A>T c.224A>T (p.Tyr75Phe) | |
8 | g.60741657T>A | CA371296561 | CHD7 | n.738T>A c.225T>A (p.Tyr75Ter) | |
8 | g.60741657T>C | CA461103144 | CHD7 | n.738T>C c.225T>C (p.Tyr75=) | |
8 | g.60741657T>G | CA371296562 | CHD7 | n.738T>G c.225T>G (p.Tyr75Ter) | |
8 | g.60741658G>A | CA371296566 | CHD7 | n.739G>A c.226G>A (p.Glu76Lys) | |
8 | g.60741658G>C | CA371296568 | CHD7 | n.739G>C c.226G>C (p.Glu76Gln) | |
8 | g.60741658G>T | CA371296563 | CHD7 | n.739G>T c.226G>T (p.Glu76Ter) | |
8 | g.60741659A= | CA1788094667 | CHD7 | n.740A= c.227A= (p.Glu76=) | |
8 | g.60741659A>C | CA177312484 | CHD7 | n.740A>C c.227A>C (p.Glu76Ala) | dbSNP gnomAD v4 |
8 | g.60741659A>G | CA371296571 | CHD7 | n.740A>G c.227A>G (p.Glu76Gly) | |
8 | g.60741659A>T | CA371296575 | CHD7 | n.740A>T c.227A>T (p.Glu76Val) | |
8 | g.60741660A>C | CA371296578 | CHD7 | n.741A>C c.228A>C (p.Glu76Asp) | |
8 | g.60741660A>G | CA461103151 | CHD7 | n.741A>G c.228A>G (p.Glu76=) | |
8 | g.60741660A>T | CA371296580 | CHD7 | n.741A>T c.228A>T (p.Glu76Asp) | |
8 | g.60741661C>A | CA371296585 | CHD7 | n.742C>A c.229C>A (p.Gln77Lys) | |
8 | g.60741661C>G | CA371296587 | CHD7 | n.742C>G c.229C>G (p.Gln77Glu) | |
8 | g.60741661C>T | CA371296591 | CHD7 | n.742C>T c.229C>T (p.Gln77Ter) | |
8 | g.60741662A>C | CA371296594 | CHD7 | n.743A>C c.230A>C (p.Gln77Pro) | |
8 | g.60741662A>G | CA371296597 | CHD7 | n.743A>G c.230A>G (p.Gln77Arg) | |
8 | g.60741662A>T | CA371296600 | CHD7 | n.743A>T c.230A>T (p.Gln77Leu) | |
8 | g.60741663A>C | CA371296609 | CHD7 | n.744A>C c.231A>C (p.Gln77His) | |
8 | g.60741663A>G | CA461103157 | CHD7 | n.744A>G c.231A>G (p.Gln77=) | |
8 | g.60741663A>T | CA371296612 | CHD7 | n.744A>T c.231A>T (p.Gln77His) | |
8 | g.60741664C>A | CA371296622 | CHD7 | n.745C>A c.232C>A (p.Gln78Lys) | |
8 | g.60741664C>G | CA371296619 | CHD7 | n.745C>G c.232C>G (p.Gln78Glu) | |
8 | g.60741664C>T | CA371296616 | CHD7 | n.745C>T c.232C>T (p.Gln78Ter) | ClinVar dbSNP |
8 | g.60741665A>C | CA371296625 | CHD7 | n.746A>C c.233A>C (p.Gln78Pro) | |
8 | g.60741665A>G | CA371296629 | CHD7 | n.746A>G c.233A>G (p.Gln78Arg) | |
8 | g.60741665A>T | CA371296632 | CHD7 | n.746A>T c.233A>T (p.Gln78Leu) | |
8 | g.60741666A= | CA1788094676 | CHD7 | n.747A= c.234A= (p.Gln78=) | |
8 | g.60741666A>C | CA371296635 | CHD7 | n.747A>C c.234A>C (p.Gln78His) | |
8 | g.60741666A>G | CA4759277 | CHD7 | n.747A>G c.234A>G (p.Gln78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60741666A>T | CA371296640 | CHD7 | n.747A>T c.234A>T (p.Gln78His) | |
8 | g.60741667A>C | CA371296644 | CHD7 | n.748A>C c.235A>C (p.Lys79Gln) | |
8 | g.60741667A>G | CA371296646 | CHD7 | n.748A>G c.235A>G (p.Lys79Glu) | ClinVar dbSNP gnomAD v4 |
8 | g.60741667A>T | CA371296653 | CHD7 | n.748A>T c.235A>T (p.Lys79Ter) | |
8 | g.60741668A= | CA1788094680 | CHD7 | n.749A= c.236A= (p.Lys79=) | |
8 | g.60741668A>C | CA371296657 | CHD7 | n.749A>C c.236A>C (p.Lys79Thr) | |
8 | g.60741668A>G | CA16618650 | CHD7 | n.749A>G c.236A>G (p.Lys79Arg) | ClinVar dbSNP |
8 | g.60741668A>T | CA371296659 | CHD7 | n.749A>T c.236A>T (p.Lys79Met) |