| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60741648T>A | CA371296472 | CHD7 | n.729T>A c.216T>A (p.Tyr72Ter) | |
| 8 | g.60741648T>C | CA148853 | CHD7 | n.729T>C c.216T>C (p.Tyr72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741648T>G | CA371296477 | CHD7 | n.729T>G c.216T>G (p.Tyr72Ter) | |
| 8 | g.60741648T= | CA1788094654 | CHD7 | n.729T= c.216T= (p.Tyr72=) | |
| 8 | g.60741649A>C | CA371296485 | CHD7 | n.730A>C c.217A>C (p.Asn73His) | |
| 8 | g.60741649A>G | CA371296487 | CHD7 | n.730A>G c.217A>G (p.Asn73Asp) | |
| 8 | g.60741649A>T | CA371296494 | CHD7 | n.730A>T c.217A>T (p.Asn73Tyr) | gnomAD v4 |
| 8 | g.60741650A>C | CA371296496 | CHD7 | n.731A>C c.218A>C (p.Asn73Thr) | |
| 8 | g.60741650A>G | CA371296497 | CHD7 | n.731A>G c.218A>G (p.Asn73Ser) | |
| 8 | g.60741650A>T | CA371296500 | CHD7 | n.731A>T c.218A>T (p.Asn73Ile) | |
| 8 | g.60741651T>A | CA371296505 | CHD7 | n.732T>A c.219T>A (p.Asn73Lys) | |
| 8 | g.60741651T>C | CA461103125 | CHD7 | n.732T>C c.219T>C (p.Asn73=) | |
| 8 | g.60741651T>G | CA371296508 | CHD7 | n.732T>G c.219T>G (p.Asn73Lys) | gnomAD v4 |
| 8 | g.60741651dup | CA2695209545 | CHD7 | n.732dup c.219dup (p.Gln74SerfsTer3) | |
| 8 | g.60741652C>A | CA371296521 | CHD7 | n.733C>A c.220C>A (p.Gln74Lys) | |
| 8 | g.60741652C>G | CA371296519 | CHD7 | n.733C>G c.220C>G (p.Gln74Glu) | |
| 8 | g.60741652C>T | CA371296514 | CHD7 | n.733C>T c.220C>T (p.Gln74Ter) | |
| 8 | g.60741653A= | CA1788094662 | CHD7 | n.734A= c.221A= (p.Gln74=) | |
| 8 | g.60741653A>C | CA371296523 | CHD7 | n.734A>C c.221A>C (p.Gln74Pro) | |
| 8 | g.60741653A>G | CA4759276 | CHD7 | n.734A>G c.221A>G (p.Gln74Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741653A>T | CA371296529 | CHD7 | n.734A>T c.221A>T (p.Gln74Leu) | |
| 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) |