Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60781040A>C | CA371311439 | CHD7 | n.2219A>C c.1706A>C (p.Asp569Ala) c.350A>C c.107A>C (p.Asp36Ala) | gnomAD v4 |
8 | g.60781040A>G | CA371311445 | CHD7 | n.2219A>G c.1706A>G (p.Asp569Gly) c.350A>G c.107A>G (p.Asp36Gly) | |
8 | g.60781040A>T | CA371311441 | CHD7 | n.2219A>T c.1706A>T (p.Asp569Val) c.350A>T c.107A>T (p.Asp36Val) | |
8 | g.60781041T>A | CA371311448 | CHD7 | n.2220T>A c.1707T>A (p.Asp569Glu) c.351T>A c.108T>A (p.Asp36Glu) | ClinVar dbSNP gnomAD v4 |
8 | g.60781041T>C | CA461104153 | CHD7 | n.2220T>C c.1707T>C (p.Asp569=) c.351T>C c.108T>C (p.Asp36=) | |
8 | g.60781041T>G | CA371311450 | CHD7 | n.2220T>G c.1707T>G (p.Asp569Glu) c.351T>G c.108T>G (p.Asp36Glu) | |
8 | g.60781041T= | CA1788144788 | CHD7 | n.2220T= c.1707T= (p.Asp569=) c.351T= c.108T= (p.Asp36=) | |
8 | g.60781042A= | CA1788144789 | CHD7 | n.2221A= c.1708A= (p.Met570=) c.352A= c.109A= (p.Met37=) | |
8 | g.60781042A>C | CA371311454 | CHD7 | n.2221A>C c.1708A>C (p.Met570Leu) c.352A>C c.109A>C (p.Met37Leu) | |
8 | g.60781042A>G | CA4759561 | CHD7 | n.2221A>G c.1708A>G (p.Met570Val) c.352A>G c.109A>G (p.Met37Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60781042A>T | CA371311457 | CHD7 | n.2221A>T c.1708A>T (p.Met570Leu) c.352A>T c.109A>T (p.Met37Leu) | |
8 | g.60781043T>A | CA371311463 | CHD7 | n.2222T>A c.1709T>A (p.Met570Lys) c.353T>A c.110T>A (p.Met37Lys) | |
8 | g.60781043T>C | CA371311469 | CHD7 | n.2222T>C c.1709T>C (p.Met570Thr) c.353T>C c.110T>C (p.Met37Thr) | gnomAD v4 |
8 | g.60781043T>G | CA371311467 | CHD7 | n.2222T>G c.1709T>G (p.Met570Arg) c.353T>G c.110T>G (p.Met37Arg) | |
8 | g.60781044G>A | CA371311474 | CHD7 | n.2223G>A c.1710G>A (p.Met570Ile) c.354G>A c.111G>A (p.Met37Ile) | |
8 | g.60781044G>C | CA371311481 | CHD7 | n.2223G>C c.1710G>C (p.Met570Ile) c.354G>C c.111G>C (p.Met37Ile) | |
8 | g.60781044G>T | CA371311479 | CHD7 | n.2223G>T c.1710G>T (p.Met570Ile) c.354G>T c.111G>T (p.Met37Ile) | gnomAD v4 |
8 | g.60781045A>C | CA371311484 | CHD7 | n.2224A>C c.1711A>C (p.Thr571Pro) c.355A>C c.112A>C (p.Thr38Pro) | |
8 | g.60781045A>G | CA371311486 | CHD7 | n.2224A>G c.1711A>G (p.Thr571Ala) c.355A>G c.112A>G (p.Thr38Ala) | |
8 | g.60781045A>T | CA371311490 | CHD7 | n.2224A>T c.1711A>T (p.Thr571Ser) c.355A>T c.112A>T (p.Thr38Ser) | |
8 | g.60781046C>A | CA371311491 | CHD7 | n.2225C>A c.1712C>A (p.Thr571Asn) c.356C>A c.113C>A (p.Thr38Asn) | |
8 | g.60781046C>G | CA371311493 | CHD7 | n.2225C>G c.1712C>G (p.Thr571Ser) c.356C>G c.113C>G (p.Thr38Ser) | gnomAD v4 |
8 | g.60781046C>T | CA371311499 | CHD7 | n.2225C>T c.1712C>T (p.Thr571Ile) c.356C>T c.113C>T (p.Thr38Ile) | |
8 | g.60781047T>A | CA461104154 | CHD7 | n.2226T>A c.1713T>A (p.Thr571=) c.357T>A c.114T>A (p.Thr38=) | |
8 | g.60781047T>C | CA461104155 | CHD7 | n.2226T>C c.1713T>C (p.Thr571=) c.357T>C c.114T>C (p.Thr38=) | |
8 | g.60781047T>G | CA461104156 | CHD7 | n.2226T>G c.1713T>G (p.Thr571=) c.357T>G c.114T>G (p.Thr38=) | |
8 | g.60781048C>A | CA371311502 | CHD7 | n.2227C>A c.1714C>A (p.Gln572Lys) c.358C>A c.115C>A (p.Gln39Lys) | |
8 | g.60781048C= | CA1788144790 | CHD7 | n.2227C= c.1714C= (p.Gln572=) c.358C= c.115C= (p.Gln39=) | |
8 | g.60781048C>G | CA371311505 | CHD7 | n.2227C>G c.1714C>G (p.Gln572Glu) c.358C>G c.115C>G (p.Gln39Glu) | COSMIC |
8 | g.60781048C>T | CA10588458 | CHD7 | n.2227C>T c.1714C>T (p.Gln572Ter) c.358C>T c.115C>T (p.Gln39Ter) | ClinVar dbSNP |
8 | g.60781049A= | CA1788144841 | CHD7 | n.2228A= c.1715A= (p.Gln572=) c.359A= c.116A= (p.Gln39=) | |
8 | g.60781049A>C | CA371311509 | CHD7 | n.2228A>C c.1715A>C (p.Gln572Pro) c.359A>C c.116A>C (p.Gln39Pro) | |
8 | g.60781049A>G | CA371311512 | CHD7 | n.2228A>G c.1715A>G (p.Gln572Arg) c.359A>G c.116A>G (p.Gln39Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60781049A>T | CA371311514 | CHD7 | n.2228A>T c.1715A>T (p.Gln572Leu) c.359A>T c.116A>T (p.Gln39Leu) | |
8 | g.60781050G>A | CA461104157 | CHD7 | n.2229G>A c.1716G>A (p.Gln572=) c.360G>A c.117G>A (p.Gln39=) | |
8 | g.60781050G>C | CA371311515 | CHD7 | n.2229G>C c.1716G>C (p.Gln572His) c.360G>C c.117G>C (p.Gln39His) | ClinVar dbSNP gnomAD v2 |
8 | g.60781050G= | CA1788144842 | CHD7 | n.2229G= c.1716G= (p.Gln572=) c.360G= c.117G= (p.Gln39=) | |
8 | g.60781050G>T | CA371311518 | CHD7 | n.2229G>T c.1716G>T (p.Gln572His) c.360G>T c.117G>T (p.Gln39His) | |
8 | g.60781051G>A | CA371311524 | CHD7 | n.2230G>A c.1717G>A (p.Val573Ile) c.1716+1G>A (n.1716+1G>A) c.361G>A c.117+1G>A (n.117+1G>A) | gnomAD v4 |
8 | g.60781051G>C | CA371311527 | CHD7 | n.2230G>C c.1717G>C (p.Val573Leu) c.1716+1G>C (n.1716+1G>C) c.361G>C c.117+1G>C (n.117+1G>C) | dbSNP |
8 | g.60781051G= | CA1788144843 | CHD7 | n.2230G= c.1717G= (p.Val573=) c.1716+1G= (n.1716+1G=) c.361G= c.117+1G= (n.117+1G=) | |
8 | g.60781051G>T | CA371311530 | CHD7 | n.2230G>T c.1717G>T (p.Val573Phe) c.1716+1G>T (n.1716+1G>T) c.361G>T c.117+1G>T (n.117+1G>T) | ClinVar |
8 | g.60781052T>A | CA371311534 | CHD7 | n.2231T>A c.1718T>A (p.Val573Asp) c.1716+2T>A (n.1716+2T>A) c.362T>A c.117+2T>A (n.117+2T>A) | |
8 | g.60781052T>C | CA371311537 | CHD7 | n.2231T>C c.1718T>C (p.Val573Ala) c.1716+2T>C (n.1716+2T>C) c.362T>C c.117+2T>C (n.117+2T>C) | |
8 | g.60781052T>G | CA371311541 | CHD7 | n.2231T>G c.1718T>G (p.Val573Gly) c.1716+2T>G (n.1716+2T>G) c.362T>G c.117+2T>G (n.117+2T>G) | |
8 | g.60781053T>A | CA461104158 | CHD7 | n.2232T>A c.1719T>A (p.Val573=) c.1716+3T>A (n.1716+3T>A) c.363T>A c.117+3T>A (n.117+3T>A) | |
8 | g.60781053T>C | CA461104159 | CHD7 | n.2232T>C c.1719T>C (p.Val573=) c.1716+3T>C (n.1716+3T>C) c.363T>C c.117+3T>C (n.117+3T>C) | |
8 | g.60781053T>G | CA461104160 | CHD7 | n.2232T>G c.1719T>G (p.Val573=) c.1716+3T>G (n.1716+3T>G) c.363T>G c.117+3T>G (n.117+3T>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60781053T= | CA1788144844 | CHD7 | n.2232T= c.1719T= (p.Val573=) c.1716+3T= (n.1716+3T=) c.363T= c.117+3T= (n.117+3T=) | |
8 | g.60781054A>C | CA371311543 | CHD7 | n.2233A>C c.1720A>C (p.Ser574Arg) c.1716+4A>C (n.1716+4A>C) c.364A>C c.117+4A>C (n.117+4A>C) | gnomAD v4 |