Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60742971C>A | CA461103963 | CHD7 | n.2052C>A c.1539C>A (p.Thr513=) c.183C>A | |
8 | g.60742971C= | CA1788085240 | CHD7 | n.2052C= c.1539C= (p.Thr513=) c.183C= | |
8 | g.60742971C>G | CA461103965 | CHD7 | n.2052C>G c.1539C>G (p.Thr513=) c.183C>G | |
8 | g.60742971C>T | CA4759506 | CHD7 | n.2052C>T c.1539C>T (p.Thr513=) c.183C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60742972T>A | CA371303362 | CHD7 | n.2053T>A c.1540T>A (p.Cys514Ser) c.184T>A | |
8 | g.60742972T>C | CA371303364 | CHD7 | n.2053T>C c.1540T>C (p.Cys514Arg) c.184T>C | gnomAD v4 |
8 | g.60742972T>G | CA371303366 | CHD7 | n.2053T>G c.1540T>G (p.Cys514Gly) c.184T>G | gnomAD v4 |
8 | g.60742973G>A | CA371303369 | CHD7 | n.2054G>A c.1541G>A (p.Cys514Tyr) c.185G>A | |
8 | g.60742973G>C | CA4759508 | CHD7 | n.2054G>C c.1541G>C (p.Cys514Ser) c.185G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.60742973G= | CA1788085248 | CHD7 | n.2054G= c.1541G= (p.Cys514=) c.185G= | |
8 | g.60742973G>T | CA371303371 | CHD7 | n.2054G>T c.1541G>T (p.Cys514Phe) c.185G>T | |
8 | g.60742973_60742976delinsGTCC | CA1788085245 | CHD7 | n.2054_2057delinsGTCC c.1541_1544delinsGTCC (p.Cys514=) c.185_188delinsGTCC | |
8 | g.60742974T>A | CA371303375 | CHD7 | n.2055T>A c.1542T>A (p.Cys514Ter) c.186T>A | |
8 | g.60742974T>C | CA461103968 | CHD7 | n.2055T>C c.1542T>C (p.Cys514=) c.186T>C | |
8 | g.60742974T>G | CA371303377 | CHD7 | n.2055T>G c.1542T>G (p.Cys514Trp) c.186T>G | |
8 | g.60742977_60742979del | CA4759507 | CHD7 | n.2058_2060del c.1545_1547del (p.Pro516del) c.189_191del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60742975C>A | CA371303382 | CHD7 | n.2056C>A c.1543C>A (p.Pro515Thr) c.187C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60742975C= | CA1788085267 | CHD7 | n.2056C= c.1543C= (p.Pro515=) c.187C= | |
8 | g.60742975C>G | CA371303385 | CHD7 | n.2056C>G c.1543C>G (p.Pro515Ala) c.187C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60742975C>T | CA371303387 | CHD7 | n.2056C>T c.1543C>T (p.Pro515Ser) c.187C>T | ClinVar dbSNP COSMIC |
8 | g.60742976del | CA2695209578 | CHD7 | n.2057del c.1544del (p.Pro515LeufsTer?) c.188del | |
8 | g.60742976C>A | CA371303389 | CHD7 | n.2057C>A c.1544C>A (p.Pro515His) c.188C>A | |
8 | g.60742976C= | CA1788085275 | CHD7 | n.2057C= c.1544C= (p.Pro515=) c.188C= | |
8 | g.60742976C>G | CA371303391 | CHD7 | n.2057C>G c.1544C>G (p.Pro515Arg) c.188C>G | |
8 | g.60742976C>T | CA371303393 | CHD7 | n.2057C>T c.1544C>T (p.Pro515Leu) c.188C>T | dbSNP gnomAD v4 COSMIC |
8 | g.60742977T>A | CA461103971 | CHD7 | n.2058T>A c.1545T>A (p.Pro515=) c.189T>A | |
8 | g.60742977T>C | CA461103970 | CHD7 | n.2058T>C c.1545T>C (p.Pro515=) c.189T>C | gnomAD v4 |
8 | g.60742977T>G | CA461103969 | CHD7 | n.2058T>G c.1545T>G (p.Pro515=) c.189T>G | dbSNP |
8 | g.60742977T= | CA1788085277 | CHD7 | n.2058T= c.1545T= (p.Pro515=) c.189T= | |
8 | g.60742978C>A | CA371303395 | CHD7 | n.2059C>A c.1546C>A (p.Pro516Thr) c.190C>A | |
8 | g.60742978C>G | CA371303397 | CHD7 | n.2059C>G c.1546C>G (p.Pro516Ala) c.190C>G | gnomAD v4 |
8 | g.60742978C>T | CA371303399 | CHD7 | n.2059C>T c.1546C>T (p.Pro516Ser) c.190C>T | ClinVar |
8 | g.60742979C>A | CA371303406 | CHD7 | n.2060C>A c.1547C>A (p.Pro516Gln) c.191C>A | |
8 | g.60742979C>G | CA371303401 | CHD7 | n.2060C>G c.1547C>G (p.Pro516Arg) c.191C>G | |
8 | g.60742979C>T | CA371303403 | CHD7 | n.2060C>T c.1547C>T (p.Pro516Leu) c.191C>T | |
8 | g.60742981_60742985del | CA2739268798 | CHD7 | n.2062_2066del c.1549_1553del (p.Leu517AlafsTer?) c.193_197del | ClinVar |
8 | g.60742980A= | CA1788085284 | CHD7 | n.2061A= c.1548A= (p.Pro516=) c.192A= | |
8 | g.60742980A>C | CA461103972 | CHD7 | n.2061A>C c.1548A>C (p.Pro516=) c.192A>C | gnomAD v4 |
8 | g.60742980A>G | CA4759509 | CHD7 | n.2061A>G c.1548A>G (p.Pro516=) c.192A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60742980A>T | CA461103973 | CHD7 | n.2061A>T c.1548A>T (p.Pro516=) c.192A>T | gnomAD v4 |
8 | g.60742981C>A | CA371303409 | CHD7 | n.2062C>A c.1549C>A (p.Leu517Met) c.193C>A | |
8 | g.60742981C>G | CA371303411 | CHD7 | n.2062C>G c.1549C>G (p.Leu517Val) c.193C>G | |
8 | g.60742981C>T | CA461103974 | CHD7 | n.2062C>T c.1549C>T (p.Leu517=) c.193C>T | |
8 | g.60742982T>A | CA371303413 | CHD7 | n.2063T>A c.1550T>A (p.Leu517Gln) c.194T>A | |
8 | g.60742982T>C | CA371303415 | CHD7 | n.2063T>C c.1550T>C (p.Leu517Pro) c.194T>C | |
8 | g.60742982T>G | CA371303417 | CHD7 | n.2063T>G c.1550T>G (p.Leu517Arg) c.194T>G | |
8 | g.60742983G>A | CA461103975 | CHD7 | n.2064G>A c.1551G>A (p.Leu517=) c.195G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60742983G>C | CA461103977 | CHD7 | n.2064G>C c.1551G>C (p.Leu517=) c.195G>C | |
8 | g.60742983G= | CA1788085300 | CHD7 | n.2064G= c.1551G= (p.Leu517=) c.195G= | |
8 | g.60742983G>T | CA461103976 | CHD7 | n.2064G>T c.1551G>T (p.Leu517=) c.195G>T | |
8 | g.60742984C>A | CA371303419 | CHD7 | n.2065C>A c.1552C>A (p.Gln518Lys) c.196C>A | |
8 | g.60742984C= | CA1788085316 | CHD7 | n.2065C= c.1552C= (p.Gln518=) c.196C= | |
8 | g.60742984C>G | CA371303421 | CHD7 | n.2065C>G c.1552C>G (p.Gln518Glu) c.196C>G | |
8 | g.60742984C>T | CA16044358 | CHD7 | n.2065C>T c.1552C>T (p.Gln518Ter) c.196C>T | ClinVar dbSNP |
8 | g.60742985A= | CA1788085329 | CHD7 | n.2066A= c.1553A= (p.Gln518=) c.197A= | |
8 | g.60742985A>C | CA371303425 | CHD7 | n.2066A>C c.1553A>C (p.Gln518Pro) c.197A>C | |
8 | g.60742985A>G | CA4759510 | CHD7 | n.2066A>G c.1553A>G (p.Gln518Arg) c.197A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60742985A>T | CA371303427 | CHD7 | n.2066A>T c.1553A>T (p.Gln518Leu) c.197A>T | dbSNP |
8 | g.60742986G>A | CA461103979 | CHD7 | n.2067G>A c.1554G>A (p.Gln518=) c.198G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60742986G>C | CA4759512 | CHD7 | n.2067G>C c.1554G>C (p.Gln518His) c.198G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60742986G= | CA1788085343 | CHD7 | n.2067G= c.1554G= (p.Gln518=) c.198G= | |
8 | g.60742986G>T | CA4759511 | CHD7 | n.2067G>T c.1554G>T (p.Gln518His) c.198G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60742987C>A | CA371303430 | CHD7 | n.2068C>A c.1555C>A (p.Pro519Thr) c.199C>A | |
8 | g.60742987C= | CA1788085353 | CHD7 | n.2068C= c.1555C= (p.Pro519=) c.199C= | |
8 | g.60742987C>G | CA371303432 | CHD7 | n.2068C>G c.1555C>G (p.Pro519Ala) c.199C>G | |
8 | g.60742987C>T | CA4759513 | CHD7 | n.2068C>T c.1555C>T (p.Pro519Ser) c.199C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60742988C>A | CA371303435 | CHD7 | n.2069C>A c.1556C>A (p.Pro519His) c.200C>A | dbSNP |
8 | g.60742988C= | CA1788085358 | CHD7 | n.2069C= c.1556C= (p.Pro519=) c.200C= | |
8 | g.60742988C>G | CA371303437 | CHD7 | n.2069C>G c.1556C>G (p.Pro519Arg) c.200C>G | |
8 | g.60742988C>T | CA371303439 | CHD7 | n.2069C>T c.1556C>T (p.Pro519Leu) c.200C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60742989T>A | CA461103982 | CHD7 | n.2070T>A c.1557T>A (p.Pro519=) c.201T>A | |
8 | g.60742989T>C | CA461103981 | CHD7 | n.2070T>C c.1557T>C (p.Pro519=) c.201T>C | gnomAD v4 |
8 | g.60742989T>G | CA461103980 | CHD7 | n.2070T>G c.1557T>G (p.Pro519=) c.201T>G | |
8 | g.60742990C>A | CA371303445 | CHD7 | n.2071C>A c.1558C>A (p.His520Asn) c.202C>A | |
8 | g.60742990C= | CA1788085373 | CHD7 | n.2071C= c.1558C= (p.His520=) c.202C= | |
8 | g.60742990C>G | CA371303441 | CHD7 | n.2071C>G c.1558C>G (p.His520Asp) c.202C>G | gnomAD v4 |
8 | g.60742990C>T | CA371303443 | CHD7 | n.2071C>T c.1558C>T (p.His520Tyr) c.202C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60742991A>C | CA371303448 | CHD7 | n.2072A>C c.1559A>C (p.His520Pro) c.203A>C | |
8 | g.60742991A>G | CA371303449 | CHD7 | n.2072A>G c.1559A>G (p.His520Arg) c.203A>G | |
8 | g.60742991A>T | CA371303451 | CHD7 | n.2072A>T c.1559A>T (p.His520Leu) c.203A>T | |
8 | g.60742992C>A | CA371303453 | CHD7 | n.2073C>A c.1560C>A (p.His520Gln) c.204C>A | |
8 | g.60742992C= | CA1788085383 | CHD7 | n.2073C= c.1560C= (p.His520=) c.204C= | |
8 | g.60742992C>G | CA371303455 | CHD7 | n.2073C>G c.1560C>G (p.His520Gln) c.204C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60742992C>T | CA461103986 | CHD7 | n.2073C>T c.1560C>T (p.His520=) c.204C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60742993C>A | CA371303461 | CHD7 | n.2074C>A c.1561C>A (p.Pro521Thr) c.205C>A | |
8 | g.60742993C>G | CA371303458 | CHD7 | n.2074C>G c.1561C>G (p.Pro521Ala) c.205C>G | ClinVar gnomAD v4 |
8 | g.60742993C>T | CA371303460 | CHD7 | n.2074C>T c.1561C>T (p.Pro521Ser) c.205C>T | |
8 | g.60742994C>A | CA371303465 | CHD7 | n.2075C>A c.1562C>A (p.Pro521Gln) c.206C>A | gnomAD v4 |
8 | g.60742994C= | CA1788085408 | CHD7 | n.2075C= c.1562C= (p.Pro521=) c.206C= | |
8 | g.60742994C>G | CA371303466 | CHD7 | n.2075C>G c.1562C>G (p.Pro521Arg) c.206C>G | |
8 | g.60742994C>T | CA4759514 | CHD7 | n.2075C>T c.1562C>T (p.Pro521Leu) c.206C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60742995G>A | CA4759515 | CHD7 | n.2076G>A c.1563G>A (p.Pro521=) c.207G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60742995G>C | CA461103990 | CHD7 | n.2076G>C c.1563G>C (p.Pro521=) c.207G>C | |
8 | g.60742995G= | CA1788085417 | CHD7 | n.2076G= c.1563G= (p.Pro521=) c.207G= | |
8 | g.60742995G>T | CA461103991 | CHD7 | n.2076G>T c.1563G>T (p.Pro521=) c.207G>T | |
8 | g.60742996G>A | CA371303470 | CHD7 | n.2077G>A c.1564G>A (p.Gly522Ser) c.208G>A | |
8 | g.60742996G>C | CA371303472 | CHD7 | n.2077G>C c.1564G>C (p.Gly522Arg) c.208G>C | |
8 | g.60742996G>T | CA371303473 | CHD7 | n.2077G>T c.1564G>T (p.Gly522Cys) c.208G>T | |
8 | g.60742997G>A | CA371303476 | CHD7 | n.2078G>A c.1565G>A (p.Gly522Asp) c.209G>A | gnomAD v4 |
8 | g.60742997G>C | CA371303477 | CHD7 | n.2078G>C c.1565G>C (p.Gly522Ala) c.209G>C | |
8 | g.60742997G= | CA1788085429 | CHD7 | n.2078G= c.1565G= (p.Gly522=) c.209G= | |
8 | g.60742997G>T | CA4759516 | CHD7 | n.2078G>T c.1565G>T (p.Gly522Val) c.209G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60742998C>A | CA461103992 | CHD7 | n.2079C>A c.1566C>A (p.Gly522=) c.210C>A | |
8 | g.60742998C= | CA1788085445 | CHD7 | n.2079C= c.1566C= (p.Gly522=) c.210C= | |
8 | g.60742998C>G | CA461103993 | CHD7 | n.2079C>G c.1566C>G (p.Gly522=) c.210C>G | |
8 | g.60742998C>T | CA10625680 | CHD7 | n.2079C>T c.1566C>T (p.Gly522=) c.210C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60742999T>A | CA371303481 | CHD7 | n.2080T>A c.1567T>A (p.Leu523Met) c.211T>A | |
8 | g.60742999T>C | CA461103995 | CHD7 | n.2080T>C c.1567T>C (p.Leu523=) c.211T>C | |
8 | g.60742999T>G | CA371303484 | CHD7 | n.2080T>G c.1567T>G (p.Leu523Val) c.211T>G | |
8 | g.60743000T>A | CA371303490 | CHD7 | n.2081T>A c.1568T>A (p.Leu523Ter) c.212T>A | |
8 | g.60743000T>C | CA371303486 | CHD7 | n.2081T>C c.1568T>C (p.Leu523Ser) c.212T>C | |
8 | g.60743000T>G | CA371303489 | CHD7 | n.2081T>G c.1568T>G (p.Leu523Trp) c.212T>G | |
8 | g.60743001G>A | CA461103996 | CHD7 | n.2082G>A c.1569G>A (p.Leu523=) c.213G>A | |
8 | g.60743001G>C | CA371303492 | CHD7 | n.2082G>C c.1569G>C (p.Leu523Phe) c.213G>C | |
8 | g.60743001G>T | CA371303494 | CHD7 | n.2082G>T c.1569G>T (p.Leu523Phe) c.213G>T | |
8 | g.60743002C>A | CA371303496 | CHD7 | n.2083C>A c.1570C>A (p.His524Asn) c.214C>A | |
8 | g.60743002C= | CA1788085463 | CHD7 | n.2083C= c.1570C= (p.His524=) c.214C= | |
8 | g.60743002C>G | CA371303498 | CHD7 | n.2083C>G c.1570C>G (p.His524Asp) c.214C>G | |
8 | g.60743002C>T | CA4759517 | CHD7 | n.2083C>T c.1570C>T (p.His524Tyr) c.214C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60743003A= | CA1788085468 | CHD7 | n.2084A= c.1571A= (p.His524=) c.215A= | |
8 | g.60743003A>C | CA177313647 | CHD7 | n.2084A>C c.1571A>C (p.His524Pro) c.215A>C | dbSNP |
8 | g.60743003A>G | CA371303501 | CHD7 | n.2084A>G c.1571A>G (p.His524Arg) c.215A>G | gnomAD v4 |
8 | g.60743003A>T | CA371303503 | CHD7 | n.2084A>T c.1571A>T (p.His524Leu) c.215A>T | |
8 | g.60743004C>A | CA371303505 | CHD7 | n.2085C>A c.1572C>A (p.His524Gln) c.216C>A | |
8 | g.60743004C>G | CA371303507 | CHD7 | n.2085C>G c.1572C>G (p.His524Gln) c.216C>G | |
8 | g.60743004C>T | CA461103997 | CHD7 | n.2085C>T c.1572C>T (p.His524=) c.216C>T | dbSNP gnomAD v4 |
8 | g.60743005C>A | CA371303510 | CHD7 | n.2086C>A c.1573C>A (p.His525Asn) c.217C>A | |
8 | g.60743005C>G | CA371303511 | CHD7 | n.2086C>G c.1573C>G (p.His525Asp) c.217C>G | |
8 | g.60743005C>T | CA371303513 | CHD7 | n.2086C>T c.1573C>T (p.His525Tyr) c.217C>T | gnomAD v4 |
8 | g.60743006A>C | CA371303519 | CHD7 | n.2087A>C c.1574A>C (p.His525Pro) c.218A>C | gnomAD v4 |
8 | g.60743006A>G | CA371303517 | CHD7 | n.2087A>G c.1574A>G (p.His525Arg) c.218A>G | COSMIC |
8 | g.60743006A>T | CA371303515 | CHD7 | n.2087A>T c.1574A>T (p.His525Leu) c.218A>T | |
8 | g.60743007C>A | CA371303521 | CHD7 | n.2088C>A c.1575C>A (p.His525Gln) c.219C>A | COSMIC |
8 | g.60743007C>G | CA371303523 | CHD7 | n.2088C>G c.1575C>G (p.His525Gln) c.219C>G | |
8 | g.60743007C>T | CA461103998 | CHD7 | n.2088C>T c.1575C>T (p.His525=) c.219C>T | gnomAD v4 |
8 | g.60743008C>A | CA371303525 | CHD7 | n.2089C>A c.1576C>A (p.Gln526Lys) c.220C>A | |
8 | g.60743008C>G | CA371303527 | CHD7 | n.2089C>G c.1576C>G (p.Gln526Glu) c.220C>G | |
8 | g.60743008C>T | CA371303529 | CHD7 | n.2089C>T c.1576C>T (p.Gln526Ter) c.220C>T | |
8 | g.60743009A>C | CA371303531 | CHD7 | n.2090A>C c.1577A>C (p.Gln526Pro) c.221A>C | |
8 | g.60743009A>G | CA371303532 | CHD7 | n.2090A>G c.1577A>G (p.Gln526Arg) c.221A>G | ClinVar dbSNP |
8 | g.60743009A>T | CA371303535 | CHD7 | n.2090A>T c.1577A>T (p.Gln526Leu) c.221A>T | |
8 | g.60743010G>A | CA461103999 | CHD7 | n.2091G>A c.1578G>A (p.Gln526=) c.222G>A | gnomAD v4 |
8 | g.60743010G>C | CA371303538 | CHD7 | n.2091G>C c.1578G>C (p.Gln526His) c.222G>C | |
8 | g.60743010G>T | CA371303540 | CHD7 | n.2091G>T c.1578G>T (p.Gln526His) c.222G>T | |
8 | g.60743011T>A | CA371303543 | CHD7 | n.2092T>A c.1579T>A (p.Ser527Thr) c.223T>A | |
8 | g.60743011T>C | CA371303545 | CHD7 | n.2092T>C c.1579T>C (p.Ser527Pro) c.223T>C | |
8 | g.60743011T>G | CA371303546 | CHD7 | n.2092T>G c.1579T>G (p.Ser527Ala) c.223T>G | |
8 | g.60743012C>A | CA371303551 | CHD7 | n.2093C>A c.1580C>A (p.Ser527Tyr) c.224C>A | |
8 | g.60743012C>G | CA371303552 | CHD7 | n.2093C>G c.1580C>G (p.Ser527Cys) c.224C>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60743012C>T | CA371303549 | CHD7 | n.2093C>T c.1580C>T (p.Ser527Phe) c.224C>T | |
8 | g.60743012_60743013insAA | CA2554436287 | CHD7 | n.2093_2094insAA c.1580_1581insAA (p.Ser528IlefsTer?) c.224_225insAA | |
8 | g.60743013T>A | CA461104000 | CHD7 | n.2094T>A c.1581T>A (p.Ser527=) c.225T>A | |
8 | g.60743013T>C | CA461104002 | CHD7 | n.2094T>C c.1581T>C (p.Ser527=) c.225T>C | ClinVar dbSNP gnomAD v4 |
8 | g.60743013T>G | CA461104001 | CHD7 | n.2094T>G c.1581T>G (p.Ser527=) c.225T>G | gnomAD v3 gnomAD v4 |
8 | g.60743013T= | CA1788085474 | CHD7 | n.2094T= c.1581T= (p.Ser527=) c.225T= | |
8 | g.60743014T>A | CA371303555 | CHD7 | n.2095T>A c.1582T>A (p.Ser528Thr) c.226T>A | |
8 | g.60743014T>C | CA371303557 | CHD7 | n.2095T>C c.1582T>C (p.Ser528Pro) c.226T>C | |
8 | g.60743014T>G | CA371303556 | CHD7 | n.2095T>G c.1582T>G (p.Ser528Ala) c.226T>G | |
8 | g.60743015C>A | CA371303559 | CHD7 | n.2096C>A c.1583C>A (p.Ser528Ter) c.227C>A | |
8 | g.60743015C>G | CA371303563 | CHD7 | n.2096C>G c.1583C>G (p.Ser528Ter) c.227C>G | |
8 | g.60743015C>T | CA371303561 | CHD7 | n.2096C>T c.1583C>T (p.Ser528Leu) c.227C>T | dbSNP |
8 | g.60743015_60743016insCCTTGGTGC | CA2535058325 | CHD7 | n.2096_2097insCCTTGGTGC c.1583_1584insCCTTGGTGC (p.Ser528_Pro529insLeuGlyAla) c.227_228insCCTTGGTGC | |
8 | g.60743016A>C | CA461104005 | CHD7 | n.2097A>C c.1584A>C (p.Ser528=) c.228A>C | gnomAD v4 |
8 | g.60743016A>G | CA461104006 | CHD7 | n.2097A>G c.1584A>G (p.Ser528=) c.228A>G | gnomAD v4 |
8 | g.60743016A>T | CA461104007 | CHD7 | n.2097A>T c.1584A>T (p.Ser528=) c.228A>T | |
8 | g.60743017C>A | CA371303565 | CHD7 | n.2098C>A c.1585C>A (p.Pro529Thr) c.229C>A | |
8 | g.60743017C= | CA1788085478 | CHD7 | n.2098C= c.1585C= (p.Pro529=) c.229C= | |
8 | g.60743017C>G | CA371303567 | CHD7 | n.2098C>G c.1585C>G (p.Pro529Ala) c.229C>G | |
8 | g.60743017C>T | CA371303569 | CHD7 | n.2098C>T c.1585C>T (p.Pro529Ser) c.229C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743021_60743029del | CA2580078443 | CHD7 | n.2102_2110del c.1589_1597del (p.Pro530_Pro532del) c.233_241del | ClinVar |
8 | g.60743018C>A | CA371303571 | CHD7 | n.2099C>A c.1586C>A (p.Pro529His) c.230C>A | |
8 | g.60743018C>G | CA371303573 | CHD7 | n.2099C>G c.1586C>G (p.Pro529Arg) c.230C>G | |
8 | g.60743018C>T | CA371303575 | CHD7 | n.2099C>T c.1586C>T (p.Pro529Leu) c.230C>T | |
8 | g.60743019T>A | CA461104008 | CHD7 | n.2100T>A c.1587T>A (p.Pro529=) c.231T>A | |
8 | g.60743019T>C | CA461104009 | CHD7 | n.2100T>C c.1587T>C (p.Pro529=) c.231T>C | |
8 | g.60743019T>G | CA461104010 | CHD7 | n.2100T>G c.1587T>G (p.Pro529=) c.231T>G | |
8 | g.60743020C>A | CA371303577 | CHD7 | n.2101C>A c.1588C>A (p.Pro530Thr) c.232C>A | |
8 | g.60743020C>G | CA371303578 | CHD7 | n.2101C>G c.1588C>G (p.Pro530Ala) c.232C>G | |
8 | g.60743020C>T | CA371303580 | CHD7 | n.2101C>T c.1588C>T (p.Pro530Ser) c.232C>T | |
8 | g.60743021C>A | CA371303586 | CHD7 | n.2102C>A c.1589C>A (p.Pro530Gln) c.233C>A | |
8 | g.60743021C>G | CA371303584 | CHD7 | n.2102C>G c.1589C>G (p.Pro530Arg) c.233C>G | |
8 | g.60743021C>T | CA371303582 | CHD7 | n.2102C>T c.1589C>T (p.Pro530Leu) c.233C>T | COSMIC |
8 | g.60743022A>C | CA461104014 | CHD7 | n.2103A>C c.1590A>C (p.Pro530=) c.234A>C | |
8 | g.60743022A>G | CA461104012 | CHD7 | n.2103A>G c.1590A>G (p.Pro530=) c.234A>G | gnomAD v4 |
8 | g.60743022A>T | CA461104013 | CHD7 | n.2103A>T c.1590A>T (p.Pro530=) c.234A>T | |
8 | g.60743023C>A | CA371303588 | CHD7 | n.2104C>A c.1591C>A (p.His531Asn) c.235C>A | COSMIC |
8 | g.60743023C>G | CA371303590 | CHD7 | n.2104C>G c.1591C>G (p.His531Asp) c.235C>G | |
8 | g.60743023C>T | CA371303591 | CHD7 | n.2104C>T c.1591C>T (p.His531Tyr) c.235C>T | gnomAD v4 |
8 | g.60743024A>C | CA371303593 | CHD7 | n.2105A>C c.1592A>C (p.His531Pro) c.236A>C | |
8 | g.60743024A>G | CA371303595 | CHD7 | n.2105A>G c.1592A>G (p.His531Arg) c.236A>G | gnomAD v4 |
8 | g.60743024A>T | CA371303596 | CHD7 | n.2105A>T c.1592A>T (p.His531Leu) c.236A>T | |
8 | g.60743025C>A | CA371303598 | CHD7 | n.2106C>A c.1593C>A (p.His531Gln) c.237C>A | |
8 | g.60743025C= | CA1788085484 | CHD7 | n.2106C= c.1593C= (p.His531=) c.237C= | |
8 | g.60743025C>G | CA371303600 | CHD7 | n.2106C>G c.1593C>G (p.His531Gln) c.237C>G | |
8 | g.60743025C>T | CA461104015 | CHD7 | n.2106C>T c.1593C>T (p.His531=) c.237C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743027del | CA2580078446 | CHD7 | n.2108del c.1595del (p.Pro532LeufsTer?) c.239del | ClinVar |
8 | g.60743026C>A | CA371303602 | CHD7 | n.2107C>A c.1594C>A (p.Pro532Thr) c.238C>A | |
8 | g.60743026C>G | CA371303603 | CHD7 | n.2107C>G c.1594C>G (p.Pro532Ala) c.238C>G | |
8 | g.60743026C>T | CA371303605 | CHD7 | n.2107C>T c.1594C>T (p.Pro532Ser) c.238C>T | |
8 | g.60743027C>A | CA371303609 | CHD7 | n.2108C>A c.1595C>A (p.Pro532His) c.239C>A | |
8 | g.60743027C= | CA1788085487 | CHD7 | n.2108C= c.1595C= (p.Pro532=) c.239C= | |
8 | g.60743027C>G | CA371303610 | CHD7 | n.2108C>G c.1595C>G (p.Pro532Arg) c.239C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743027C>T | CA371303607 | CHD7 | n.2108C>T c.1595C>T (p.Pro532Leu) c.239C>T | |
8 | g.60743028T>A | CA461104017 | CHD7 | n.2109T>A c.1596T>A (p.Pro532=) c.240T>A | |
8 | g.60743028T>C | CA461104016 | CHD7 | n.2109T>C c.1596T>C (p.Pro532=) c.240T>C | |
8 | g.60743028T>G | CA461104018 | CHD7 | n.2109T>G c.1596T>G (p.Pro532=) c.240T>G | |
8 | g.60743029C>A | CA371303612 | CHD7 | n.2110C>A c.1597C>A (p.His533Asn) c.241C>A | gnomAD v4 |
8 | g.60743029C= | CA1788085495 | CHD7 | n.2110C= c.1597C= (p.His533=) c.241C= | |
8 | g.60743029C>G | CA371303613 | CHD7 | n.2110C>G c.1597C>G (p.His533Asp) c.241C>G | |
8 | g.60743029C>T | CA4759518 | CHD7 | n.2110C>T c.1597C>T (p.His533Tyr) c.241C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60743029_60743030insT | CA658821257 | CHD7 | n.2110_2111insT c.1597_1598insT (p.His533LeufsTer?) c.241_242insT | ClinVar dbSNP |
8 | g.60743030A>C | CA371303616 | CHD7 | n.2111A>C c.1598A>C (p.His533Pro) c.242A>C | |
8 | g.60743030A>G | CA371303618 | CHD7 | n.2111A>G c.1598A>G (p.His533Arg) c.242A>G | ClinVar gnomAD v4 |
8 | g.60743030A>T | CA371303620 | CHD7 | n.2111A>T c.1598A>T (p.His533Leu) c.242A>T | |
8 | g.60743031T>A | CA371303622 | CHD7 | n.2112T>A c.1599T>A (p.His533Gln) c.243T>A | |
8 | g.60743031T>C | CA461104019 | CHD7 | n.2112T>C c.1599T>C (p.His533=) c.243T>C | |
8 | g.60743031T>G | CA371303624 | CHD7 | n.2112T>G c.1599T>G (p.His533Gln) c.243T>G | |
8 | g.60743032C>A | CA371303626 | CHD7 | n.2113C>A c.1600C>A (p.His534Asn) c.244C>A c.1C>A (p.His1Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743032C= | CA1788085512 | CHD7 | n.2113C= c.1600C= (p.His534=) c.244C= c.1C= (p.His1=) | |
8 | g.60743032C>G | CA371303628 | CHD7 | n.2113C>G c.1600C>G (p.His534Asp) c.244C>G c.1C>G (p.His1Asp) | |
8 | g.60743032C>T | CA371303630 | CHD7 | n.2113C>T c.1600C>T (p.His534Tyr) c.244C>T c.1C>T (p.His1Tyr) | gnomAD v4 |
8 | g.60743033A>C | CA371303635 | CHD7 | n.2114A>C c.1601A>C (p.His534Pro) c.245A>C c.2A>C (p.His1Pro) | |
8 | g.60743033A>G | CA371303634 | CHD7 | n.2114A>G c.1601A>G (p.His534Arg) c.245A>G c.2A>G (p.His1Arg) | gnomAD v4 |
8 | g.60743033A>T | CA371303632 | CHD7 | n.2114A>T c.1601A>T (p.His534Leu) c.245A>T c.2A>T (p.His1Leu) | |
8 | g.60743034C>A | CA371303638 | CHD7 | n.2115C>A c.1602C>A (p.His534Gln) c.246C>A c.3C>A (p.His1Gln) | ClinVar dbSNP gnomAD v4 |
8 | g.60743034C= | CA1788085520 | CHD7 | n.2115C= c.1602C= (p.His534=) c.246C= c.3C= (p.His1=) | |
8 | g.60743034C>G | CA371303640 | CHD7 | n.2115C>G c.1602C>G (p.His534Gln) c.246C>G c.3C>G (p.His1Gln) | gnomAD v4 |
8 | g.60743034C>T | CA461104023 | CHD7 | n.2115C>T c.1602C>T (p.His534=) c.246C>T c.3C>T (p.His1=) | dbSNP |
8 | g.60743035C>A | CA4759519 | CHD7 | n.2116C>A c.1603C>A (p.Gln535Lys) c.247C>A c.4C>A (p.Gln2Lys) | dbSNP ExAC |
8 | g.60743035C= | CA1788085526 | CHD7 | n.2116C= c.1603C= (p.Gln535=) c.247C= c.4C= (p.Gln2=) | |
8 | g.60743035C>G | CA371303644 | CHD7 | n.2116C>G c.1603C>G (p.Gln535Glu) c.247C>G c.4C>G (p.Gln2Glu) | |
8 | g.60743035C>T | CA371303646 | CHD7 | n.2116C>T c.1603C>T (p.Gln535Ter) c.247C>T c.4C>T (p.Gln2Ter) | ClinVar dbSNP |
8 | g.60743036A= | CA1788085534 | CHD7 | n.2117A= c.1604A= (p.Gln535=) c.248A= c.5A= (p.Gln2=) | |
8 | g.60743036A>C | CA371303648 | CHD7 | n.2117A>C c.1604A>C (p.Gln535Pro) c.248A>C c.5A>C (p.Gln2Pro) | |
8 | g.60743036A>G | CA371303650 | CHD7 | n.2117A>G c.1604A>G (p.Gln535Arg) c.248A>G c.5A>G (p.Gln2Arg) | |
8 | g.60743036A>T | CA371303652 | CHD7 | n.2117A>T c.1604A>T (p.Gln535Leu) c.248A>T c.5A>T (p.Gln2Leu) | ClinVar dbSNP |
8 | g.60743037G>A | CA461104025 | CHD7 | n.2118G>A c.1605G>A (p.Gln535=) c.249G>A c.6G>A (p.Gln2=) | |
8 | g.60743037G>C | CA371303654 | CHD7 | n.2118G>C c.1605G>C (p.Gln535His) c.249G>C c.6G>C (p.Gln2His) | |
8 | g.60743037G>T | CA371303656 | CHD7 | n.2118G>T c.1605G>T (p.Gln535His) c.249G>T c.6G>T (p.Gln2His) | |
8 | g.60743038C>A | CA371303658 | CHD7 | n.2119C>A c.1606C>A (p.Pro536Thr) c.250C>A c.7C>A (p.Pro3Thr) | |
8 | g.60743038C>G | CA371303660 | CHD7 | n.2119C>G c.1606C>G (p.Pro536Ala) c.250C>G c.7C>G (p.Pro3Ala) | |
8 | g.60743038C>T | CA371303662 | CHD7 | n.2119C>T c.1606C>T (p.Pro536Ser) c.250C>T c.7C>T (p.Pro3Ser) | |
8 | g.60743039C>A | CA371303666 | CHD7 | n.2120C>A c.1607C>A (p.Pro536His) c.251C>A c.8C>A (p.Pro3His) | |
8 | g.60743039C>G | CA371303668 | CHD7 | n.2120C>G c.1607C>G (p.Pro536Arg) c.251C>G c.8C>G (p.Pro3Arg) | |
8 | g.60743039C>T | CA371303664 | CHD7 | n.2120C>T c.1607C>T (p.Pro536Leu) c.251C>T c.8C>T (p.Pro3Leu) | |
8 | g.60743040T>A | CA461104029 | CHD7 | n.2121T>A c.1608T>A (p.Pro536=) c.252T>A c.9T>A (p.Pro3=) | |
8 | g.60743040T>C | CA461104030 | CHD7 | n.2121T>C c.1608T>C (p.Pro536=) c.252T>C c.9T>C (p.Pro3=) | |
8 | g.60743040T>G | CA461104031 | CHD7 | n.2121T>G c.1608T>G (p.Pro536=) c.252T>G c.9T>G (p.Pro3=) | |
8 | g.60743041T>A | CA371303674 | CHD7 | n.2122T>A c.1609T>A (p.Trp537Arg) c.253T>A c.10T>A (p.Trp4Arg) | |
8 | g.60743041T>C | CA371303670 | CHD7 | n.2122T>C c.1609T>C (p.Trp537Arg) c.253T>C c.10T>C (p.Trp4Arg) | |
8 | g.60743041T>G | CA371303672 | CHD7 | n.2122T>G c.1609T>G (p.Trp537Gly) c.253T>G c.10T>G (p.Trp4Gly) | |
8 | g.60743042G>A | CA371303676 | CHD7 | n.2123G>A c.1610G>A (p.Trp537Ter) c.254G>A c.11G>A (p.Trp4Ter) | |
8 | g.60743042G>C | CA371303678 | CHD7 | n.2123G>C c.1610G>C (p.Trp537Ser) c.254G>C c.11G>C (p.Trp4Ser) | |
8 | g.60743042G>T | CA371303679 | CHD7 | n.2123G>T c.1610G>T (p.Trp537Leu) c.254G>T c.11G>T (p.Trp4Leu) | |
8 | g.60743042_60743043insA | CA2695209582 | CHD7 | n.2123_2124insA c.1610_1611insA (p.Trp537Ter) c.254_255insA c.11_12insA (p.Trp4Ter) | |
8 | g.60743043G>A | CA371303685 | CHD7 | n.2124G>A c.1611G>A (p.Trp537Ter) c.255G>A c.12G>A (p.Trp4Ter) | |
8 | g.60743043G>C | CA371303683 | CHD7 | n.2124G>C c.1611G>C (p.Trp537Cys) c.255G>C c.12G>C (p.Trp4Cys) | |
8 | g.60743043G>T | CA371303681 | CHD7 | n.2124G>T c.1611G>T (p.Trp537Cys) c.255G>T c.12G>T (p.Trp4Cys) | |
8 | g.60743044G>A | CA371303687 | CHD7 | n.2125G>A c.1612G>A (p.Ala538Thr) c.256G>A c.13G>A (p.Ala5Thr) | |
8 | g.60743044G>C | CA371303689 | CHD7 | n.2125G>C c.1612G>C (p.Ala538Pro) c.256G>C c.13G>C (p.Ala5Pro) | |
8 | g.60743044G>T | CA371303691 | CHD7 | n.2125G>T c.1612G>T (p.Ala538Ser) c.256G>T c.13G>T (p.Ala5Ser) | |
8 | g.60743045C>A | CA371303693 | CHD7 | n.2126C>A c.1613C>A (p.Ala538Glu) c.257C>A c.14C>A (p.Ala5Glu) | dbSNP |
8 | g.60743045C= | CA1788085554 | CHD7 | n.2126C= c.1613C= (p.Ala538=) c.257C= c.14C= (p.Ala5=) | |
8 | g.60743045C>G | CA371303694 | CHD7 | n.2126C>G c.1613C>G (p.Ala538Gly) c.257C>G c.14C>G (p.Ala5Gly) | |
8 | g.60743045C>T | CA371303696 | CHD7 | n.2126C>T c.1613C>T (p.Ala538Val) c.257C>T c.14C>T (p.Ala5Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743046A>C | CA461104036 | CHD7 | n.2127A>C c.1614A>C (p.Ala538=) c.258A>C c.15A>C (p.Ala5=) | |
8 | g.60743046A>G | CA461104037 | CHD7 | n.2127A>G c.1614A>G (p.Ala538=) c.258A>G c.15A>G (p.Ala5=) | |
8 | g.60743046A>T | CA461104038 | CHD7 | n.2127A>T c.1614A>T (p.Ala538=) c.258A>T c.15A>T (p.Ala5=) | COSMIC |
8 | g.60743047C>A | CA371303698 | CHD7 | n.2128C>A c.1615C>A (p.Gln539Lys) c.259C>A c.16C>A (p.Gln6Lys) | |
8 | g.60743047C>G | CA371303702 | CHD7 | n.2128C>G c.1615C>G (p.Gln539Glu) c.259C>G c.16C>G (p.Gln6Glu) | gnomAD v4 |
8 | g.60743047C>T | CA371303700 | CHD7 | n.2128C>T c.1615C>T (p.Gln539Ter) c.259C>T c.16C>T (p.Gln6Ter) | |
8 | g.60743048A>C | CA371303704 | CHD7 | n.2129A>C c.1616A>C (p.Gln539Pro) c.260A>C c.17A>C (p.Gln6Pro) | gnomAD v4 |
8 | g.60743048A>G | CA371303706 | CHD7 | n.2129A>G c.1616A>G (p.Gln539Arg) c.260A>G c.17A>G (p.Gln6Arg) | |
8 | g.60743048A>T | CA371303707 | CHD7 | n.2129A>T c.1616A>T (p.Gln539Leu) c.260A>T c.17A>T (p.Gln6Leu) | |
8 | g.60743049G>A | CA461104041 | CHD7 | n.2130G>A c.1617G>A (p.Gln539=) c.261G>A c.18G>A (p.Gln6=) | |
8 | g.60743049G>C | CA371303710 | CHD7 | n.2130G>C c.1617G>C (p.Gln539His) c.261G>C c.18G>C (p.Gln6His) | gnomAD v4 |
8 | g.60743049G>T | CA371303711 | CHD7 | n.2130G>T c.1617G>T (p.Gln539His) c.261G>T c.18G>T (p.Gln6His) | |
8 | g.60743050C>A | CA371303713 | CHD7 | n.2131C>A c.1618C>A (p.Leu540Ile) c.262C>A c.19C>A (p.Leu7Ile) | |
8 | g.60743050C= | CA1788085562 | CHD7 | n.2131C= c.1618C= (p.Leu540=) c.262C= c.19C= (p.Leu7=) | |
8 | g.60743050C>G | CA371303715 | CHD7 | n.2131C>G c.1618C>G (p.Leu540Val) c.262C>G c.19C>G (p.Leu7Val) | |
8 | g.60743050C>T | CA371303717 | CHD7 | n.2131C>T c.1618C>T (p.Leu540Phe) c.262C>T c.19C>T (p.Leu7Phe) | dbSNP gnomAD v4 |
8 | g.60743051T>A | CA371303720 | CHD7 | n.2132T>A c.1619T>A (p.Leu540His) c.263T>A c.20T>A (p.Leu7His) | |
8 | g.60743051T>C | CA371303722 | CHD7 | n.2132T>C c.1619T>C (p.Leu540Pro) c.263T>C c.20T>C (p.Leu7Pro) | |
8 | g.60743051T>G | CA371303723 | CHD7 | n.2132T>G c.1619T>G (p.Leu540Arg) c.263T>G c.20T>G (p.Leu7Arg) | |
8 | g.60743052C>A | CA461104043 | CHD7 | n.2133C>A c.1620C>A (p.Leu540=) c.264C>A c.21C>A (p.Leu7=) | |
8 | g.60743052C>G | CA461104045 | CHD7 | n.2133C>G c.1620C>G (p.Leu540=) c.264C>G c.21C>G (p.Leu7=) | |
8 | g.60743052C>T | CA461104046 | CHD7 | n.2133C>T c.1620C>T (p.Leu540=) c.264C>T c.21C>T (p.Leu7=) | |
8 | g.60743053C>A | CA371303728 | CHD7 | n.2134C>A c.1621C>A (p.His541Asn) c.265C>A c.22C>A (p.His8Asn) | |
8 | g.60743053C>G | CA371303727 | CHD7 | n.2134C>G c.1621C>G (p.His541Asp) c.265C>G c.22C>G (p.His8Asp) | |
8 | g.60743053C>T | CA371303725 | CHD7 | n.2134C>T c.1621C>T (p.His541Tyr) c.265C>T c.22C>T (p.His8Tyr) | gnomAD v4 |
8 | g.60743054A= | CA1788085570 | CHD7 | n.2135A= c.1622A= (p.His541=) c.266A= c.23A= (p.His8=) | |
8 | g.60743054A>C | CA371303731 | CHD7 | n.2135A>C c.1622A>C (p.His541Pro) c.266A>C c.23A>C (p.His8Pro) | |
8 | g.60743054A>G | CA371303732 | CHD7 | n.2135A>G c.1622A>G (p.His541Arg) c.266A>G c.23A>G (p.His8Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60743054A>T | CA371303734 | CHD7 | n.2135A>T c.1622A>T (p.His541Leu) c.266A>T c.23A>T (p.His8Leu) | |
8 | g.60743055C>A | CA371303736 | CHD7 | n.2136C>A c.1623C>A (p.His541Gln) c.267C>A c.24C>A (p.His8Gln) | ClinVar |
8 | g.60743055C= | CA1788085584 | CHD7 | n.2136C= c.1623C= (p.His541=) c.267C= c.24C= (p.His8=) | |
8 | g.60743055C>G | CA371303738 | CHD7 | n.2136C>G c.1623C>G (p.His541Gln) c.267C>G c.24C>G (p.His8Gln) | |
8 | g.60743055C>T | CA177313652 | CHD7 | n.2136C>T c.1623C>T (p.His541=) c.267C>T c.24C>T (p.His8=) | dbSNP |
8 | g.60743056C>A | CA371303741 | CHD7 | n.2137C>A c.1624C>A (p.Pro542Thr) c.268C>A c.25C>A (p.Pro9Thr) | |
8 | g.60743056C= | CA1788085589 | CHD7 | n.2137C= c.1624C= (p.Pro542=) c.268C= c.25C= (p.Pro9=) | |
8 | g.60743056C>G | CA371303743 | CHD7 | n.2137C>G c.1624C>G (p.Pro542Ala) c.268C>G c.25C>G (p.Pro9Ala) | |
8 | g.60743056C>T | CA371303745 | CHD7 | n.2137C>T c.1624C>T (p.Pro542Ser) c.268C>T c.25C>T (p.Pro9Ser) | dbSNP gnomAD v4 |
8 | g.60743057C>A | CA371303747 | CHD7 | n.2138C>A c.1625C>A (p.Pro542Gln) c.269C>A c.26C>A (p.Pro9Gln) | |
8 | g.60743057C>G | CA371303749 | CHD7 | n.2138C>G c.1625C>G (p.Pro542Arg) c.269C>G c.26C>G (p.Pro9Arg) | |
8 | g.60743057C>T | CA371303751 | CHD7 | n.2138C>T c.1625C>T (p.Pro542Leu) c.269C>T c.26C>T (p.Pro9Leu) | |
8 | g.60743058A= | CA1788085593 | CHD7 | n.2139A= c.1626A= (p.Pro542=) c.270A= c.27A= (p.Pro9=) | |
8 | g.60743058A>C | CA461104050 | CHD7 | n.2139A>C c.1626A>C (p.Pro542=) c.270A>C c.27A>C (p.Pro9=) | |
8 | g.60743058A>G | CA4759520 | CHD7 | n.2139A>G c.1626A>G (p.Pro542=) c.270A>G c.27A>G (p.Pro9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743058A>T | CA461104052 | CHD7 | n.2139A>T c.1626A>T (p.Pro542=) c.270A>T c.27A>T (p.Pro9=) | |
8 | g.60743059T>A | CA371303757 | CHD7 | n.2140T>A c.1627T>A (p.Ser543Thr) c.271T>A c.28T>A (p.Ser10Thr) | |
8 | g.60743059T>C | CA371303759 | CHD7 | n.2140T>C c.1627T>C (p.Ser543Pro) c.271T>C c.28T>C (p.Ser10Pro) | |
8 | g.60743059T>G | CA371303755 | CHD7 | n.2140T>G c.1627T>G (p.Ser543Ala) c.271T>G c.28T>G (p.Ser10Ala) | |
8 | g.60743060C>A | CA371303761 | CHD7 | n.2141C>A c.1628C>A (p.Ser543Ter) c.272C>A c.29C>A (p.Ser10Ter) | |
8 | g.60743060C>G | CA371303762 | CHD7 | n.2141C>G c.1628C>G (p.Ser543Ter) c.272C>G c.29C>G (p.Ser10Ter) | |
8 | g.60743060C>T | CA371303763 | CHD7 | n.2141C>T c.1628C>T (p.Ser543Leu) c.272C>T c.29C>T (p.Ser10Leu) | gnomAD v4 |
8 | g.60743061A>C | CA461104055 | CHD7 | n.2142A>C c.1629A>C (p.Ser543=) c.273A>C c.30A>C (p.Ser10=) | |
8 | g.60743061A>G | CA461104056 | CHD7 | n.2142A>G c.1629A>G (p.Ser543=) c.273A>G c.30A>G (p.Ser10=) | |
8 | g.60743061A>T | CA461104057 | CHD7 | n.2142A>T c.1629A>T (p.Ser543=) c.273A>T c.30A>T (p.Ser10=) | |
8 | g.60743062C>A | CA371303764 | CHD7 | n.2143C>A c.1630C>A (p.Pro544Thr) c.274C>A c.31C>A (p.Pro11Thr) | |
8 | g.60743062C= | CA1788085600 | CHD7 | n.2143C= c.1630C= (p.Pro544=) c.274C= c.31C= (p.Pro11=) | |
8 | g.60743062C>G | CA371303765 | CHD7 | n.2143C>G c.1630C>G (p.Pro544Ala) c.274C>G c.31C>G (p.Pro11Ala) | gnomAD v4 |
8 | g.60743062C>T | CA371303766 | CHD7 | n.2143C>T c.1630C>T (p.Pro544Ser) c.274C>T c.31C>T (p.Pro11Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60743065dup | CA2573053029 | CHD7 | n.2146dup c.1633dup (p.Gln545ProfsTer30) c.1633dup (p.Gln545ProfsTer?) c.277dup c.34dup (p.Gln12ProfsTer?) | ClinVar dbSNP |
8 | g.60743063C>A | CA371303767 | CHD7 | n.2144C>A c.1631C>A (p.Pro544His) c.275C>A c.32C>A (p.Pro11His) | |
8 | g.60743063C>G | CA371303769 | CHD7 | n.2144C>G c.1631C>G (p.Pro544Arg) c.275C>G c.32C>G (p.Pro11Arg) | |
8 | g.60743063C>T | CA371303768 | CHD7 | n.2144C>T c.1631C>T (p.Pro544Leu) c.275C>T c.32C>T (p.Pro11Leu) | |
8 | g.60743064C>A | CA461104061 | CHD7 | n.2145C>A c.1632C>A (p.Pro544=) c.276C>A c.33C>A (p.Pro11=) | |
8 | g.60743064C= | CA1788085602 | CHD7 | n.2145C= c.1632C= (p.Pro544=) c.276C= c.33C= (p.Pro11=) | |
8 | g.60743064C>G | CA177313656 | CHD7 | n.2145C>G c.1632C>G (p.Pro544=) c.276C>G c.33C>G (p.Pro11=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743064C>T | CA4759521 | CHD7 | n.2145C>T c.1632C>T (p.Pro544=) c.276C>T c.33C>T (p.Pro11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743065C>A | CA371303770 | CHD7 | n.2146C>A c.1633C>A (p.Gln545Lys) c.277C>A c.34C>A (p.Gln12Lys) | |
8 | g.60743065C>G | CA371303771 | CHD7 | n.2146C>G c.1633C>G (p.Gln545Glu) c.277C>G c.34C>G (p.Gln12Glu) | |
8 | g.60743065C>T | CA371303772 | CHD7 | n.2146C>T c.1633C>T (p.Gln545Ter) c.277C>T c.34C>T (p.Gln12Ter) | ClinVar |
8 | g.60743066A= | CA1788085609 | CHD7 | n.2147A= c.1634A= (p.Gln545=) c.278A= c.35A= (p.Gln12=) | |
8 | g.60743066A>C | CA371303774 | CHD7 | n.2147A>C c.1634A>C (p.Gln545Pro) c.278A>C c.35A>C (p.Gln12Pro) | |
8 | g.60743066A>G | CA4759522 | CHD7 | n.2147A>G c.1634A>G (p.Gln545Arg) c.278A>G c.35A>G (p.Gln12Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743066A>T | CA371303773 | CHD7 | n.2147A>T c.1634A>T (p.Gln545Leu) c.278A>T c.35A>T (p.Gln12Leu) | |
8 | g.60743067G>A | CA461104063 | CHD7 | n.2148G>A c.1635G>A (p.Gln545=) c.279G>A c.36G>A (p.Gln12=) | |
8 | g.60743067G>C | CA371303776 | CHD7 | n.2148G>C c.1635G>C (p.Gln545His) c.279G>C c.36G>C (p.Gln12His) | |
8 | g.60743067G>T | CA371303775 | CHD7 | n.2148G>T c.1635G>T (p.Gln545His) c.279G>T c.36G>T (p.Gln12His) | |
8 | g.60743068A>C | CA371303778 | CHD7 | n.2149A>C c.1636A>C (p.Asn546His) c.280A>C c.37A>C (p.Asn13His) | |
8 | g.60743068A>G | CA371303777 | CHD7 | n.2149A>G c.1636A>G (p.Asn546Asp) c.280A>G c.37A>G (p.Asn13Asp) | |
8 | g.60743068A>T | CA371303779 | CHD7 | n.2149A>T c.1636A>T (p.Asn546Tyr) c.280A>T c.37A>T (p.Asn13Tyr) | |
8 | g.60743069A>C | CA371303780 | CHD7 | n.2150A>C c.1637A>C (p.Asn546Thr) c.281A>C c.38A>C (p.Asn13Thr) | |
8 | g.60743069A>G | CA371303782 | CHD7 | n.2150A>G c.1637A>G (p.Asn546Ser) c.281A>G c.38A>G (p.Asn13Ser) | |
8 | g.60743069A>T | CA371303781 | CHD7 | n.2150A>T c.1637A>T (p.Asn546Ile) c.281A>T c.38A>T (p.Asn13Ile) | |
8 | g.60743070C>A | CA371303783 | CHD7 | n.2151C>A c.1638C>A (p.Asn546Lys) c.282C>A c.39C>A (p.Asn13Lys) | |
8 | g.60743070C>G | CA371303784 | CHD7 | n.2151C>G c.1638C>G (p.Asn546Lys) c.282C>G c.39C>G (p.Asn13Lys) | |
8 | g.60743070C>T | CA461104065 | CHD7 | n.2151C>T c.1638C>T (p.Asn546=) c.282C>T c.39C>T (p.Asn13=) | |
8 | g.60743071A= | CA1788085613 | CHD7 | n.2152A= c.1639A= (p.Thr547=) c.283A= c.40A= (p.Thr14=) | |
8 | g.60743071A>C | CA371303785 | CHD7 | n.2152A>C c.1639A>C (p.Thr547Pro) c.283A>C c.40A>C (p.Thr14Pro) | ClinVar dbSNP |
8 | g.60743071A>G | CA371303787 | CHD7 | n.2152A>G c.1639A>G (p.Thr547Ala) c.283A>G c.40A>G (p.Thr14Ala) | |
8 | g.60743071A>T | CA371303786 | CHD7 | n.2152A>T c.1639A>T (p.Thr547Ser) c.283A>T c.40A>T (p.Thr14Ser) |