Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.60841950C>A	CA371319320	CHD7	c.4748C>A (p.Ser1583Tyr) c.1717-20279C>A (n.1717-20279C>A) c.2735C>A (p.Ser912Tyr) c.2285C>A (p.Ser762Tyr) c.1493C>A (p.Ser498Tyr)
8	g.60841950C=	CA1788123029	CHD7	c.4748C= (p.Ser1583=) c.1717-20279C= (n.1717-20279C=) c.2735C= (p.Ser912=) c.2285C= (p.Ser762=) c.1493C= (p.Ser498=)
8	g.60841950C>G	CA371319318	CHD7	c.4748C>G (p.Ser1583Cys) c.1717-20279C>G (n.1717-20279C>G) c.2735C>G (p.Ser912Cys) c.2285C>G (p.Ser762Cys) c.1493C>G (p.Ser498Cys)	gnomAD v4
8	g.60841950C>T	CA371319316	CHD7	c.4748C>T (p.Ser1583Phe) c.1717-20279C>T (n.1717-20279C>T) c.2735C>T (p.Ser912Phe) c.2285C>T (p.Ser762Phe) c.1493C>T (p.Ser498Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.60841951T>A	CA460848198	CHD7	c.4749T>A (p.Ser1583=) c.1717-20278T>A (n.1717-20278T>A) c.2736T>A (p.Ser912=) c.2286T>A (p.Ser762=) c.1494T>A (p.Ser498=)
8	g.60841951T>C	CA460848199	CHD7	c.4749T>C (p.Ser1583=) c.1717-20278T>C (n.1717-20278T>C) c.2736T>C (p.Ser912=) c.2286T>C (p.Ser762=) c.1494T>C (p.Ser498=)
8	g.60841951T>G	CA460848200	CHD7	c.4749T>G (p.Ser1583=) c.1717-20278T>G (n.1717-20278T>G) c.2736T>G (p.Ser912=) c.2286T>G (p.Ser762=) c.1494T>G (p.Ser498=)
8	g.60841952G>A	CA371319322	CHD7	c.4750G>A (p.Glu1584Lys) c.1717-20277G>A (n.1717-20277G>A) c.2737G>A (p.Glu913Lys) c.2287G>A (p.Glu763Lys) c.1495G>A (p.Glu499Lys)
8	g.60841952G>C	CA371319326	CHD7	c.4750G>C (p.Glu1584Gln) c.1717-20277G>C (n.1717-20277G>C) c.2737G>C (p.Glu913Gln) c.2287G>C (p.Glu763Gln) c.1495G>C (p.Glu499Gln)
8	g.60841952G>T	CA371319324	CHD7	c.4750G>T (p.Glu1584Ter) c.1717-20277G>T (n.1717-20277G>T) c.2737G>T (p.Glu913Ter) c.2287G>T (p.Glu763Ter) c.1495G>T (p.Glu499Ter)
8	g.60841953A>C	CA371319329	CHD7	c.4751A>C (p.Glu1584Ala) c.1717-20276A>C (n.1717-20276A>C) c.2738A>C (p.Glu913Ala) c.2288A>C (p.Glu763Ala) c.1496A>C (p.Glu499Ala)
8	g.60841953A>G	CA371319331	CHD7	c.4751A>G (p.Glu1584Gly) c.1717-20276A>G (n.1717-20276A>G) c.2738A>G (p.Glu913Gly) c.2288A>G (p.Glu763Gly) c.1496A>G (p.Glu499Gly)
8	g.60841953A>T	CA371319334	CHD7	c.4751A>T (p.Glu1584Val) c.1717-20276A>T (n.1717-20276A>T) c.2738A>T (p.Glu913Val) c.2288A>T (p.Glu763Val) c.1496A>T (p.Glu499Val)
8	g.60841954A=	CA1788123032	CHD7	c.4752A= (p.Glu1584=) c.1717-20275A= (n.1717-20275A=) c.2739A= (p.Glu913=) c.2289A= (p.Glu763=) c.1497A= (p.Glu499=)
8	g.60841954A>C	CA371319335	CHD7	c.4752A>C (p.Glu1584Asp) c.1717-20275A>C (n.1717-20275A>C) c.2739A>C (p.Glu913Asp) c.2289A>C (p.Glu763Asp) c.1497A>C (p.Glu499Asp)
8	g.60841954A>G	CA4760186	CHD7	c.4752A>G (p.Glu1584=) c.1717-20275A>G (n.1717-20275A>G) c.2739A>G (p.Glu913=) c.2289A>G (p.Glu763=) c.1497A>G (p.Glu499=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841954A>T	CA371319338	CHD7	c.4752A>T (p.Glu1584Asp) c.1717-20275A>T (n.1717-20275A>T) c.2739A>T (p.Glu913Asp) c.2289A>T (p.Glu763Asp) c.1497A>T (p.Glu499Asp)
8	g.60841955G>A	CA371319341	CHD7	c.4753G>A (p.Glu1585Lys) c.1717-20274G>A (n.1717-20274G>A) c.2740G>A (p.Glu914Lys) c.2290G>A (p.Glu764Lys) c.1498G>A (p.Glu500Lys)
8	g.60841955G>C	CA371319343	CHD7	c.4753G>C (p.Glu1585Gln) c.1717-20274G>C (n.1717-20274G>C) c.2740G>C (p.Glu914Gln) c.2290G>C (p.Glu764Gln) c.1498G>C (p.Glu500Gln)	gnomAD v4
8	g.60841955G>T	CA371319345	CHD7	c.4753G>T (p.Glu1585Ter) c.1717-20274G>T (n.1717-20274G>T) c.2740G>T (p.Glu914Ter) c.2290G>T (p.Glu764Ter) c.1498G>T (p.Glu500Ter)
8	g.60841956A>C	CA371319349	CHD7	c.4754A>C (p.Glu1585Ala) c.1717-20273A>C (n.1717-20273A>C) c.2741A>C (p.Glu914Ala) c.2291A>C (p.Glu764Ala) c.1499A>C (p.Glu500Ala)
8	g.60841956A>G	CA371319352	CHD7	c.4754A>G (p.Glu1585Gly) c.1717-20273A>G (n.1717-20273A>G) c.2741A>G (p.Glu914Gly) c.2291A>G (p.Glu764Gly) c.1499A>G (p.Glu500Gly)
8	g.60841956A>T	CA371319355	CHD7	c.4754A>T (p.Glu1585Val) c.1717-20273A>T (n.1717-20273A>T) c.2741A>T (p.Glu914Val) c.2291A>T (p.Glu764Val) c.1499A>T (p.Glu500Val)
8	g.60841959del	CA2739268817	CHD7	c.4757del (p.Lys1586SerfsTer?) c.1717-20270del (n.1717-20270del) c.2744del (p.Lys915SerfsTer?) c.2294del (p.Lys765SerfsTer?) c.1502del (p.Lys501SerfsTer?)	ClinVar
8	g.60841958_60841959del	CA2695209738	CHD7	c.4756_4757del (p.Lys1586AlafsTer11) c.1717-20271_1717-20270del (n.1717-20271_1717-20270del) c.2743_2744del (p.Lys915AlafsTer11) c.2293_2294del (p.Lys765AlafsTer11) c.1501_1502del (p.Lys501AlafsTer11)
8	g.60841957A>C	CA371319359	CHD7	c.4755A>C (p.Glu1585Asp) c.1717-20272A>C (n.1717-20272A>C) c.2742A>C (p.Glu914Asp) c.2292A>C (p.Glu764Asp) c.1500A>C (p.Glu500Asp)	gnomAD v4
8	g.60841957A>G	CA460848201	CHD7	c.4755A>G (p.Glu1585=) c.1717-20272A>G (n.1717-20272A>G) c.2742A>G (p.Glu914=) c.2292A>G (p.Glu764=) c.1500A>G (p.Glu500=)
8	g.60841957A>T	CA371319357	CHD7	c.4755A>T (p.Glu1585Asp) c.1717-20272A>T (n.1717-20272A>T) c.2742A>T (p.Glu914Asp) c.2292A>T (p.Glu764Asp) c.1500A>T (p.Glu500Asp)
8	g.60841958A>C	CA371319363	CHD7	c.4756A>C (p.Lys1586Gln) c.1717-20271A>C (n.1717-20271A>C) c.2743A>C (p.Lys915Gln) c.2293A>C (p.Lys765Gln) c.1501A>C (p.Lys501Gln)
8	g.60841958A>G	CA371319364	CHD7	c.4756A>G (p.Lys1586Glu) c.1717-20271A>G (n.1717-20271A>G) c.2743A>G (p.Lys915Glu) c.2293A>G (p.Lys765Glu) c.1501A>G (p.Lys501Glu)
8	g.60841958A>T	CA371319366	CHD7	c.4756A>T (p.Lys1586Ter) c.1717-20271A>T (n.1717-20271A>T) c.2743A>T (p.Lys915Ter) c.2293A>T (p.Lys765Ter) c.1501A>T (p.Lys501Ter)
8	g.60841959A>C	CA371319369	CHD7	c.4757A>C (p.Lys1586Thr) c.1717-20270A>C (n.1717-20270A>C) c.2744A>C (p.Lys915Thr) c.2294A>C (p.Lys765Thr) c.1502A>C (p.Lys501Thr)
8	g.60841959A>G	CA371319371	CHD7	c.4757A>G (p.Lys1586Arg) c.1717-20270A>G (n.1717-20270A>G) c.2744A>G (p.Lys915Arg) c.2294A>G (p.Lys765Arg) c.1502A>G (p.Lys501Arg)
8	g.60841959A>T	CA371319373	CHD7	c.4757A>T (p.Lys1586Met) c.1717-20270A>T (n.1717-20270A>T) c.2744A>T (p.Lys915Met) c.2294A>T (p.Lys765Met) c.1502A>T (p.Lys501Met)
8	g.60841960G>A	CA460848203	CHD7	c.4758G>A (p.Lys1586=) c.1717-20269G>A (n.1717-20269G>A) c.2745G>A (p.Lys915=) c.2295G>A (p.Lys765=) c.1503G>A (p.Lys501=)
8	g.60841960G>C	CA371319377	CHD7	c.4758G>C (p.Lys1586Asn) c.1717-20269G>C (n.1717-20269G>C) c.2745G>C (p.Lys915Asn) c.2295G>C (p.Lys765Asn) c.1503G>C (p.Lys501Asn)
8	g.60841960G=	CA1788123036	CHD7	c.4758G= (p.Lys1586=) c.1717-20269G= (n.1717-20269G=) c.2745G= (p.Lys915=) c.2295G= (p.Lys765=) c.1503G= (p.Lys501=)
8	g.60841960G>T	CA371319374	CHD7	c.4758G>T (p.Lys1586Asn) c.1717-20269G>T (n.1717-20269G>T) c.2745G>T (p.Lys915Asn) c.2295G>T (p.Lys765Asn) c.1503G>T (p.Lys501Asn)
8	g.60841960_60841961insAGGAGATACATTTGA	CA1788123040	CHD7	c.4758_4759insAGGAGATACATTTGA c.1717-20269_1717-20268insAGGAGATACATTTGA (n.1717-20269_1717-20268insAGGAGATACATTTGA) c.2745_2746insAGGAGATACATTTGA c.2295_2296insAGGAGATACATTTGA c.1503_1504insAGGAGATACATTTGA	dbSNP
8	g.60841961C>A	CA371319379	CHD7	c.4759C>A (p.Pro1587Thr) c.1717-20268C>A (n.1717-20268C>A) c.2746C>A (p.Pro916Thr) c.2296C>A (p.Pro766Thr) c.1504C>A (p.Pro502Thr)
8	g.60841961C=	CA1788123045	CHD7	c.4759C= (p.Pro1587=) c.1717-20268C= (n.1717-20268C=) c.2746C= (p.Pro916=) c.2296C= (p.Pro766=) c.1504C= (p.Pro502=)
8	g.60841961C>G	CA371319381	CHD7	c.4759C>G (p.Pro1587Ala) c.1717-20268C>G (n.1717-20268C>G) c.2746C>G (p.Pro916Ala) c.2296C>G (p.Pro766Ala) c.1504C>G (p.Pro502Ala)
8	g.60841961C>T	CA177350007	CHD7	c.4759C>T (p.Pro1587Ser) c.1717-20268C>T (n.1717-20268C>T) c.2746C>T (p.Pro916Ser) c.2296C>T (p.Pro766Ser) c.1504C>T (p.Pro502Ser)	dbSNP gnomAD v2 gnomAD v4
8	g.60841963del	CA2687399538	CHD7	c.4761del (p.Cys1588ValfsTer?) c.1717-20266del (n.1717-20266del) c.2748del (p.Cys917ValfsTer?) c.2298del (p.Cys767ValfsTer?) c.1506del (p.Cys503ValfsTer?)	gnomAD v4
8	g.60841962C>A	CA371319384	CHD7	c.4760C>A (p.Pro1587His) c.1717-20267C>A (n.1717-20267C>A) c.2747C>A (p.Pro916His) c.2297C>A (p.Pro766His) c.1505C>A (p.Pro502His)
8	g.60841962C=	CA1788123053	CHD7	c.4760C= (p.Pro1587=) c.1717-20267C= (n.1717-20267C=) c.2747C= (p.Pro916=) c.2297C= (p.Pro766=) c.1505C= (p.Pro502=)
8	g.60841962C>G	CA371319386	CHD7	c.4760C>G (p.Pro1587Arg) c.1717-20267C>G (n.1717-20267C>G) c.2747C>G (p.Pro916Arg) c.2297C>G (p.Pro766Arg) c.1505C>G (p.Pro502Arg)
8	g.60841962C>T	CA271306	CHD7	c.4760C>T (p.Pro1587Leu) c.1717-20267C>T (n.1717-20267C>T) c.2747C>T (p.Pro916Leu) c.2297C>T (p.Pro766Leu) c.1505C>T (p.Pro502Leu)	ClinVar dbSNP gnomAD v4 COSMIC
8	g.60841963C>A	CA460848206	CHD7	c.4761C>A (p.Pro1587=) c.1717-20266C>A (n.1717-20266C>A) c.2748C>A (p.Pro916=) c.2298C>A (p.Pro766=) c.1506C>A (p.Pro502=)
8	g.60841963C>G	CA460848205	CHD7	c.4761C>G (p.Pro1587=) c.1717-20266C>G (n.1717-20266C>G) c.2748C>G (p.Pro916=) c.2298C>G (p.Pro766=) c.1506C>G (p.Pro502=)
8	g.60841963C>T	CA460848204	CHD7	c.4761C>T (p.Pro1587=) c.1717-20266C>T (n.1717-20266C>T) c.2748C>T (p.Pro916=) c.2298C>T (p.Pro766=) c.1506C>T (p.Pro502=)
8	g.60841964T>A	CA4760187	CHD7	c.4762T>A (p.Cys1588Ser) c.1717-20265T>A (n.1717-20265T>A) c.2749T>A (p.Cys917Ser) c.2299T>A (p.Cys767Ser) c.1507T>A (p.Cys503Ser)	dbSNP ExAC gnomAD v2
8	g.60841964T>C	CA371319392	CHD7	c.4762T>C (p.Cys1588Arg) c.1717-20265T>C (n.1717-20265T>C) c.2749T>C (p.Cys917Arg) c.2299T>C (p.Cys767Arg) c.1507T>C (p.Cys503Arg)	gnomAD v4
8	g.60841964T>G	CA371319390	CHD7	c.4762T>G (p.Cys1588Gly) c.1717-20265T>G (n.1717-20265T>G) c.2749T>G (p.Cys917Gly) c.2299T>G (p.Cys767Gly) c.1507T>G (p.Cys503Gly)
8	g.60841964T=	CA1788123064	CHD7	c.4762T= (p.Cys1588=) c.1717-20265T= (n.1717-20265T=) c.2749T= (p.Cys917=) c.2299T= (p.Cys767=) c.1507T= (p.Cys503=)
8	g.60841965G>A	CA371319394	CHD7	c.4763G>A (p.Cys1588Tyr) c.1717-20264G>A (n.1717-20264G>A) c.2750G>A (p.Cys917Tyr) c.2300G>A (p.Cys767Tyr) c.1508G>A (p.Cys503Tyr)	gnomAD v4
8	g.60841965G>C	CA371319396	CHD7	c.4763G>C (p.Cys1588Ser) c.1717-20264G>C (n.1717-20264G>C) c.2750G>C (p.Cys917Ser) c.2300G>C (p.Cys767Ser) c.1508G>C (p.Cys503Ser)
8	g.60841965G=	CA1788123082	CHD7	c.4763G= (p.Cys1588=) c.1717-20264G= (n.1717-20264G=) c.2750G= (p.Cys917=) c.2300G= (p.Cys767=) c.1508G= (p.Cys503=)
8	g.60841965G>T	CA177350014	CHD7	c.4763G>T (p.Cys1588Phe) c.1717-20264G>T (n.1717-20264G>T) c.2750G>T (p.Cys917Phe) c.2300G>T (p.Cys767Phe) c.1508G>T (p.Cys503Phe)	dbSNP gnomAD v4
8	g.60841966T>A	CA371319400	CHD7	c.4764T>A (p.Cys1588Ter) c.1717-20263T>A (n.1717-20263T>A) c.2751T>A (p.Cys917Ter) c.2301T>A (p.Cys767Ter) c.1509T>A (p.Cys503Ter)
8	g.60841966T>C	CA460848207	CHD7	c.4764T>C (p.Cys1588=) c.1717-20263T>C (n.1717-20263T>C) c.2751T>C (p.Cys917=) c.2301T>C (p.Cys767=) c.1509T>C (p.Cys503=)
8	g.60841966T>G	CA4760188	CHD7	c.4764T>G (p.Cys1588Trp) c.1717-20263T>G (n.1717-20263T>G) c.2751T>G (p.Cys917Trp) c.2301T>G (p.Cys767Trp) c.1509T>G (p.Cys503Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841966T=	CA1788123086	CHD7	c.4764T= (p.Cys1588=) c.1717-20263T= (n.1717-20263T=) c.2751T= (p.Cys917=) c.2301T= (p.Cys767=) c.1509T= (p.Cys503=)
8	g.60841967G>A	CA371319410	CHD7	c.4765G>A (p.Ala1589Thr) c.1717-20262G>A (n.1717-20262G>A) c.2752G>A (p.Ala918Thr) c.2302G>A (p.Ala768Thr) c.1510G>A (p.Ala504Thr)	dbSNP gnomAD v3 gnomAD v4
8	g.60841967G>C	CA371319408	CHD7	c.4765G>C (p.Ala1589Pro) c.1717-20262G>C (n.1717-20262G>C) c.2752G>C (p.Ala918Pro) c.2302G>C (p.Ala768Pro) c.1510G>C (p.Ala504Pro)
8	g.60841967G=	CA1788123090	CHD7	c.4765G= (p.Ala1589=) c.1717-20262G= (n.1717-20262G=) c.2752G= (p.Ala918=) c.2302G= (p.Ala768=) c.1510G= (p.Ala504=)
8	g.60841967G>T	CA371319405	CHD7	c.4765G>T (p.Ala1589Ser) c.1717-20262G>T (n.1717-20262G>T) c.2752G>T (p.Ala918Ser) c.2302G>T (p.Ala768Ser) c.1510G>T (p.Ala504Ser)
8	g.60841967_60841968insACTTATCCTGGGGA	CA2780535378	CHD7	c.4765_4766insACTTATCCTGGGGA (p.Ala1589AspfsTer?) c.1717-20262_1717-20261insACTTATCCTGGGGA (n.1717-20262_1717-20261insACTTATCCTGGGGA) c.2752_2753insACTTATCCTGGGGA (p.Ala918AspfsTer?) c.2302_2303insACTTATCCTGGGGA (p.Ala768AspfsTer?) c.1510_1511insACTTATCCTGGGGA (p.Ala504AspfsTer?) c.4765_4766insACTTATCCTGGGGA (p.Ala1589AspfsTer35)
8	g.60841968C>A	CA371319411	CHD7	c.4766C>A (p.Ala1589Glu) c.1717-20261C>A (n.1717-20261C>A) c.2753C>A (p.Ala918Glu) c.2303C>A (p.Ala768Glu) c.1511C>A (p.Ala504Glu)
8	g.60841968C>G	CA371319414	CHD7	c.4766C>G (p.Ala1589Gly) c.1717-20261C>G (n.1717-20261C>G) c.2753C>G (p.Ala918Gly) c.2303C>G (p.Ala768Gly) c.1511C>G (p.Ala504Gly)
8	g.60841968C>T	CA371319416	CHD7	c.4766C>T (p.Ala1589Val) c.1717-20261C>T (n.1717-20261C>T) c.2753C>T (p.Ala918Val) c.2303C>T (p.Ala768Val) c.1511C>T (p.Ala504Val)	gnomAD v4
8	g.60841969A>C	CA460848208	CHD7	c.4767A>C (p.Ala1589=) c.1717-20260A>C (n.1717-20260A>C) c.2754A>C (p.Ala918=) c.2304A>C (p.Ala768=) c.1512A>C (p.Ala504=)
8	g.60841969A>G	CA460848209	CHD7	c.4767A>G (p.Ala1589=) c.1717-20260A>G (n.1717-20260A>G) c.2754A>G (p.Ala918=) c.2304A>G (p.Ala768=) c.1512A>G (p.Ala504=)
8	g.60841969A>T	CA460848210	CHD7	c.4767A>T (p.Ala1589=) c.1717-20260A>T (n.1717-20260A>T) c.2754A>T (p.Ala918=) c.2304A>T (p.Ala768=) c.1512A>T (p.Ala504=)
8	g.60841970A>C	CA371319419	CHD7	c.4768A>C (p.Lys1590Gln) c.1717-20259A>C (n.1717-20259A>C) c.2755A>C (p.Lys919Gln) c.2305A>C (p.Lys769Gln) c.1513A>C (p.Lys505Gln)	gnomAD v4
8	g.60841970A>G	CA371319421	CHD7	c.4768A>G (p.Lys1590Glu) c.1717-20259A>G (n.1717-20259A>G) c.2755A>G (p.Lys919Glu) c.2305A>G (p.Lys769Glu) c.1513A>G (p.Lys505Glu)
8	g.60841970A>T	CA371319422	CHD7	c.4768A>T (p.Lys1590Ter) c.1717-20259A>T (n.1717-20259A>T) c.2755A>T (p.Lys919Ter) c.2305A>T (p.Lys769Ter) c.1513A>T (p.Lys505Ter)
8	g.60841971A>C	CA371319425	CHD7	c.4769A>C (p.Lys1590Thr) c.1717-20258A>C (n.1717-20258A>C) c.2756A>C (p.Lys919Thr) c.2306A>C (p.Lys769Thr) c.1514A>C (p.Lys505Thr)
8	g.60841971A>G	CA371319430	CHD7	c.4769A>G (p.Lys1590Arg) c.1717-20258A>G (n.1717-20258A>G) c.2756A>G (p.Lys919Arg) c.2306A>G (p.Lys769Arg) c.1514A>G (p.Lys505Arg)
8	g.60841971A>T	CA371319427	CHD7	c.4769A>T (p.Lys1590Met) c.1717-20258A>T (n.1717-20258A>T) c.2756A>T (p.Lys919Met) c.2306A>T (p.Lys769Met) c.1514A>T (p.Lys505Met)
8	g.60841972G>A	CA460848211	CHD7	c.4770G>A (p.Lys1590=) c.1717-20257G>A (n.1717-20257G>A) c.2757G>A (p.Lys919=) c.2307G>A (p.Lys769=) c.1515G>A (p.Lys505=)
8	g.60841972G>C	CA371319432	CHD7	c.4770G>C (p.Lys1590Asn) c.1717-20257G>C (n.1717-20257G>C) c.2757G>C (p.Lys919Asn) c.2307G>C (p.Lys769Asn) c.1515G>C (p.Lys505Asn)
8	g.60841972G>T	CA371319435	CHD7	c.4770G>T (p.Lys1590Asn) c.1717-20257G>T (n.1717-20257G>T) c.2757G>T (p.Lys919Asn) c.2307G>T (p.Lys769Asn) c.1515G>T (p.Lys505Asn)
8	g.60841973C>A	CA371319437	CHD7	c.4771C>A (p.Pro1591Thr) c.1717-20256C>A (n.1717-20256C>A) c.2758C>A (p.Pro920Thr) c.2308C>A (p.Pro770Thr) c.1516C>A (p.Pro506Thr)
8	g.60841973C>G	CA371319439	CHD7	c.4771C>G (p.Pro1591Ala) c.1717-20256C>G (n.1717-20256C>G) c.2758C>G (p.Pro920Ala) c.2308C>G (p.Pro770Ala) c.1516C>G (p.Pro506Ala)	gnomAD v4
8	g.60841973C>T	CA371319440	CHD7	c.4771C>T (p.Pro1591Ser) c.1717-20256C>T (n.1717-20256C>T) c.2758C>T (p.Pro920Ser) c.2308C>T (p.Pro770Ser) c.1516C>T (p.Pro506Ser)	ClinVar dbSNP gnomAD v4
8	g.60841974C>A	CA371319442	CHD7	c.4772C>A (p.Pro1591Gln) c.1717-20255C>A (n.1717-20255C>A) c.2759C>A (p.Pro920Gln) c.2309C>A (p.Pro770Gln) c.1517C>A (p.Pro506Gln)
8	g.60841974C>G	CA371319444	CHD7	c.4772C>G (p.Pro1591Arg) c.1717-20255C>G (n.1717-20255C>G) c.2759C>G (p.Pro920Arg) c.2309C>G (p.Pro770Arg) c.1517C>G (p.Pro506Arg)
8	g.60841974C>T	CA371319445	CHD7	c.4772C>T (p.Pro1591Leu) c.1717-20255C>T (n.1717-20255C>T) c.2759C>T (p.Pro920Leu) c.2309C>T (p.Pro770Leu) c.1517C>T (p.Pro506Leu)
8	g.60841975A>C	CA460848212	CHD7	c.4773A>C (p.Pro1591=) c.1717-20254A>C (n.1717-20254A>C) c.2760A>C (p.Pro920=) c.2310A>C (p.Pro770=) c.1518A>C (p.Pro506=)
8	g.60841975A>G	CA460848213	CHD7	c.4773A>G (p.Pro1591=) c.1717-20254A>G (n.1717-20254A>G) c.2760A>G (p.Pro920=) c.2310A>G (p.Pro770=) c.1518A>G (p.Pro506=)
8	g.60841975A>T	CA460848214	CHD7	c.4773A>T (p.Pro1591=) c.1717-20254A>T (n.1717-20254A>T) c.2760A>T (p.Pro920=) c.2310A>T (p.Pro770=) c.1518A>T (p.Pro506=)
8	g.60841976C>A	CA460848215	CHD7	c.4774C>A (p.Arg1592=) c.1717-20253C>A (n.1717-20253C>A) c.2761C>A (p.Arg921=) c.2311C>A (p.Arg771=) c.1519C>A (p.Arg507=)
8	g.60841976C=	CA1788123092	CHD7	c.4774C= (p.Arg1592=) c.1717-20253C= (n.1717-20253C=) c.2761C= (p.Arg921=) c.2311C= (p.Arg771=) c.1519C= (p.Arg507=)
8	g.60841976C>G	CA371319446	CHD7	c.4774C>G (p.Arg1592Gly) c.1717-20253C>G (n.1717-20253C>G) c.2761C>G (p.Arg921Gly) c.2311C>G (p.Arg771Gly) c.1519C>G (p.Arg507Gly)
8	g.60841976C>T	CA4760189	CHD7	c.4774C>T (p.Arg1592Trp) c.1717-20253C>T (n.1717-20253C>T) c.2761C>T (p.Arg921Trp) c.2311C>T (p.Arg771Trp) c.1519C>T (p.Arg507Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841977G>A	CA371319449	CHD7	c.4775G>A (p.Arg1592Gln) c.1717-20252G>A (n.1717-20252G>A) c.2762G>A (p.Arg921Gln) c.2312G>A (p.Arg771Gln) c.1520G>A (p.Arg507Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8	g.60841977G>C	CA371319453	CHD7	c.4775G>C (p.Arg1592Pro) c.1717-20252G>C (n.1717-20252G>C) c.2762G>C (p.Arg921Pro) c.2312G>C (p.Arg771Pro) c.1520G>C (p.Arg507Pro)
8	g.60841977G=	CA1788123096	CHD7	c.4775G= (p.Arg1592=) c.1717-20252G= (n.1717-20252G=) c.2762G= (p.Arg921=) c.2312G= (p.Arg771=) c.1520G= (p.Arg507=)
8	g.60841977G>T	CA371319451	CHD7	c.4775G>T (p.Arg1592Leu) c.1717-20252G>T (n.1717-20252G>T) c.2762G>T (p.Arg921Leu) c.2312G>T (p.Arg771Leu) c.1520G>T (p.Arg507Leu)
8	g.60841978G>A	CA460848216	CHD7	c.4776G>A (p.Arg1592=) c.1717-20251G>A (n.1717-20251G>A) c.2763G>A (p.Arg921=) c.2313G>A (p.Arg771=) c.1521G>A (p.Arg507=)	dbSNP gnomAD v3 gnomAD v4
8	g.60841978G>C	CA460848217	CHD7	c.4776G>C (p.Arg1592=) c.1717-20251G>C (n.1717-20251G>C) c.2763G>C (p.Arg921=) c.2313G>C (p.Arg771=) c.1521G>C (p.Arg507=)
8	g.60841978G=	CA1788123104	CHD7	c.4776G= (p.Arg1592=) c.1717-20251G= (n.1717-20251G=) c.2763G= (p.Arg921=) c.2313G= (p.Arg771=) c.1521G= (p.Arg507=)
8	g.60841978G>T	CA460848218	CHD7	c.4776G>T (p.Arg1592=) c.1717-20251G>T (n.1717-20251G>T) c.2763G>T (p.Arg921=) c.2313G>T (p.Arg771=) c.1521G>T (p.Arg507=)
8	g.60841979C>A	CA371319454	CHD7	c.4777C>A (p.Arg1593Ser) c.1717-20250C>A (n.1717-20250C>A) c.2764C>A (p.Arg922Ser) c.2314C>A (p.Arg772Ser) c.1522C>A (p.Arg508Ser)
8	g.60841979C=	CA1788123109	CHD7	c.4777C= (p.Arg1593=) c.1717-20250C= (n.1717-20250C=) c.2764C= (p.Arg922=) c.2314C= (p.Arg772=) c.1522C= (p.Arg508=)
8	g.60841979C>G	CA371319457	CHD7	c.4777C>G (p.Arg1593Gly) c.1717-20250C>G (n.1717-20250C>G) c.2764C>G (p.Arg922Gly) c.2314C>G (p.Arg772Gly) c.1522C>G (p.Arg508Gly)
8	g.60841979C>T	CA4760190	CHD7	c.4777C>T (p.Arg1593Cys) c.1717-20250C>T (n.1717-20250C>T) c.2764C>T (p.Arg922Cys) c.2314C>T (p.Arg772Cys) c.1522C>T (p.Arg508Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8	g.60841980G>A	CA4760191	CHD7	c.4778G>A (p.Arg1593His) c.1717-20249G>A (n.1717-20249G>A) c.2765G>A (p.Arg922His) c.2315G>A (p.Arg772His) c.1523G>A (p.Arg508His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.60841980G>C	CA371319461	CHD7	c.4778G>C (p.Arg1593Pro) c.1717-20249G>C (n.1717-20249G>C) c.2765G>C (p.Arg922Pro) c.2315G>C (p.Arg772Pro) c.1523G>C (p.Arg508Pro)
8	g.60841980G=	CA1788123122	CHD7	c.4778G= (p.Arg1593=) c.1717-20249G= (n.1717-20249G=) c.2765G= (p.Arg922=) c.2315G= (p.Arg772=) c.1523G= (p.Arg508=)
8	g.60841980G>T	CA371319462	CHD7	c.4778G>T (p.Arg1593Leu) c.1717-20249G>T (n.1717-20249G>T) c.2765G>T (p.Arg922Leu) c.2315G>T (p.Arg772Leu) c.1523G>T (p.Arg508Leu)	COSMIC
8	g.60841981T>A	CA460848219	CHD7	c.4779T>A (p.Arg1593=) c.1717-20248T>A (n.1717-20248T>A) c.2766T>A (p.Arg922=) c.2316T>A (p.Arg772=) c.1524T>A (p.Arg508=)
8	g.60841981T>C	CA460848220	CHD7	c.4779T>C (p.Arg1593=) c.1717-20248T>C (n.1717-20248T>C) c.2766T>C (p.Arg922=) c.2316T>C (p.Arg772=) c.1524T>C (p.Arg508=)	ClinVar dbSNP
8	g.60841981T>G	CA460848221	CHD7	c.4779T>G (p.Arg1593=) c.1717-20248T>G (n.1717-20248T>G) c.2766T>G (p.Arg922=) c.2316T>G (p.Arg772=) c.1524T>G (p.Arg508=)	ClinVar
8	g.60841981T=	CA1788123136	CHD7	c.4779T= (p.Arg1593=) c.1717-20248T= (n.1717-20248T=) c.2766T= (p.Arg922=) c.2316T= (p.Arg772=) c.1524T= (p.Arg508=)
8	g.60841982C>A	CA371319464	CHD7	c.4780C>A (p.Pro1594Thr) c.1717-20247C>A (n.1717-20247C>A) c.2767C>A (p.Pro923Thr) c.2317C>A (p.Pro773Thr) c.1525C>A (p.Pro509Thr)
8	g.60841982C>G	CA371319465	CHD7	c.4780C>G (p.Pro1594Ala) c.1717-20247C>G (n.1717-20247C>G) c.2767C>G (p.Pro923Ala) c.2317C>G (p.Pro773Ala) c.1525C>G (p.Pro509Ala)
8	g.60841982C>T	CA371319467	CHD7	c.4780C>T (p.Pro1594Ser) c.1717-20247C>T (n.1717-20247C>T) c.2767C>T (p.Pro923Ser) c.2317C>T (p.Pro773Ser) c.1525C>T (p.Pro509Ser)
8	g.60841983C>A	CA371319469	CHD7	c.4781C>A (p.Pro1594His) c.1717-20246C>A (n.1717-20246C>A) c.2768C>A (p.Pro923His) c.2318C>A (p.Pro773His) c.1526C>A (p.Pro509His)
8	g.60841983C>G	CA371319471	CHD7	c.4781C>G (p.Pro1594Arg) c.1717-20246C>G (n.1717-20246C>G) c.2768C>G (p.Pro923Arg) c.2318C>G (p.Pro773Arg) c.1526C>G (p.Pro509Arg)
8	g.60841983C>T	CA371319472	CHD7	c.4781C>T (p.Pro1594Leu) c.1717-20246C>T (n.1717-20246C>T) c.2768C>T (p.Pro923Leu) c.2318C>T (p.Pro773Leu) c.1526C>T (p.Pro509Leu)
8	g.60841984C>A	CA460848223	CHD7	c.4782C>A (p.Pro1594=) c.1717-20245C>A (n.1717-20245C>A) c.2769C>A (p.Pro923=) c.2319C>A (p.Pro773=) c.1527C>A (p.Pro509=)
8	g.60841984C=	CA1788123141	CHD7	c.4782C= (p.Pro1594=) c.1717-20245C= (n.1717-20245C=) c.2769C= (p.Pro923=) c.2319C= (p.Pro773=) c.1527C= (p.Pro509=)
8	g.60841984C>G	CA4760192	CHD7	c.4782C>G (p.Pro1594=) c.1717-20245C>G (n.1717-20245C>G) c.2769C>G (p.Pro923=) c.2319C>G (p.Pro773=) c.1527C>G (p.Pro509=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841984C>T	CA460848222	CHD7	c.4782C>T (p.Pro1594=) c.1717-20245C>T (n.1717-20245C>T) c.2769C>T (p.Pro923=) c.2319C>T (p.Pro773=) c.1527C>T (p.Pro509=)
8	g.60841985C>A	CA371319474	CHD7	c.4783C>A (p.Gln1595Lys) c.1717-20244C>A (n.1717-20244C>A) c.2770C>A (p.Gln924Lys) c.2320C>A (p.Gln774Lys) c.1528C>A (p.Gln510Lys)	dbSNP
8	g.60841985C=	CA1788123145	CHD7	c.4783C= (p.Gln1595=) c.1717-20244C= (n.1717-20244C=) c.2770C= (p.Gln924=) c.2320C= (p.Gln774=) c.1528C= (p.Gln510=)
8	g.60841985C>G	CA371319475	CHD7	c.4783C>G (p.Gln1595Glu) c.1717-20244C>G (n.1717-20244C>G) c.2770C>G (p.Gln924Glu) c.2320C>G (p.Gln774Glu) c.1528C>G (p.Gln510Glu)
8	g.60841985C>T	CA371319476	CHD7	c.4783C>T (p.Gln1595Ter) c.1717-20244C>T (n.1717-20244C>T) c.2770C>T (p.Gln924Ter) c.2320C>T (p.Gln774Ter) c.1528C>T (p.Gln510Ter)	ClinVar
8	g.60841986A=	CA1788123149	CHD7	c.4784A= (p.Gln1595=) c.1717-20243A= (n.1717-20243A=) c.2771A= (p.Gln924=) c.2321A= (p.Gln774=) c.1529A= (p.Gln510=)
8	g.60841986A>C	CA371319478	CHD7	c.4784A>C (p.Gln1595Pro) c.1717-20243A>C (n.1717-20243A>C) c.2771A>C (p.Gln924Pro) c.2321A>C (p.Gln774Pro) c.1529A>C (p.Gln510Pro)
8	g.60841986A>G	CA371319483	CHD7	c.4784A>G (p.Gln1595Arg) c.1717-20243A>G (n.1717-20243A>G) c.2771A>G (p.Gln924Arg) c.2321A>G (p.Gln774Arg) c.1529A>G (p.Gln510Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60841986A>T	CA371319481	CHD7	c.4784A>T (p.Gln1595Leu) c.1717-20243A>T (n.1717-20243A>T) c.2771A>T (p.Gln924Leu) c.2321A>T (p.Gln774Leu) c.1529A>T (p.Gln510Leu)
8	g.60841987G>A	CA460848224	CHD7	c.4785G>A (p.Gln1595=) c.1717-20242G>A (n.1717-20242G>A) c.2772G>A (p.Gln924=) c.2322G>A (p.Gln774=) c.1530G>A (p.Gln510=)	dbSNP
8	g.60841987G>C	CA371319486	CHD7	c.4785G>C (p.Gln1595His) c.1717-20242G>C (n.1717-20242G>C) c.2772G>C (p.Gln924His) c.2322G>C (p.Gln774His) c.1530G>C (p.Gln510His)
8	g.60841987G=	CA1788123154	CHD7	c.4785G= (p.Gln1595=) c.1717-20242G= (n.1717-20242G=) c.2772G= (p.Gln924=) c.2322G= (p.Gln774=) c.1530G= (p.Gln510=)
8	g.60841987G>T	CA371319487	CHD7	c.4785G>T (p.Gln1595His) c.1717-20242G>T (n.1717-20242G>T) c.2772G>T (p.Gln924His) c.2322G>T (p.Gln774His) c.1530G>T (p.Gln510His)
8	g.60841988G>A	CA371319489	CHD7	c.4786G>A (p.Asp1596Asn) c.1717-20241G>A (n.1717-20241G>A) c.2773G>A (p.Asp925Asn) c.2323G>A (p.Asp775Asn) c.1531G>A (p.Asp511Asn)
8	g.60841988G>C	CA371319490	CHD7	c.4786G>C (p.Asp1596His) c.1717-20241G>C (n.1717-20241G>C) c.2773G>C (p.Asp925His) c.2323G>C (p.Asp775His) c.1531G>C (p.Asp511His)
8	g.60841988G=	CA1788123158	CHD7	c.4786G= (p.Asp1596=) c.1717-20241G= (n.1717-20241G=) c.2773G= (p.Asp925=) c.2323G= (p.Asp775=) c.1531G= (p.Asp511=)
8	g.60841988G>T	CA371319492	CHD7	c.4786G>T (p.Asp1596Tyr) c.1717-20241G>T (n.1717-20241G>T) c.2773G>T (p.Asp925Tyr) c.2323G>T (p.Asp775Tyr) c.1531G>T (p.Asp511Tyr)	dbSNP gnomAD v3 gnomAD v4
8	g.60841989A=	CA1788123169	CHD7	c.4787A= (p.Asp1596=) c.1717-20240A= (n.1717-20240A=) c.2774A= (p.Asp925=) c.2324A= (p.Asp775=) c.1532A= (p.Asp511=)
8	g.60841989A>C	CA371319494	CHD7	c.4787A>C (p.Asp1596Ala) c.1717-20240A>C (n.1717-20240A>C) c.2774A>C (p.Asp925Ala) c.2324A>C (p.Asp775Ala) c.1532A>C (p.Asp511Ala)
8	g.60841989A>G	CA16605404	CHD7	c.4787A>G (p.Asp1596Gly) c.1717-20240A>G (n.1717-20240A>G) c.2774A>G (p.Asp925Gly) c.2324A>G (p.Asp775Gly) c.1532A>G (p.Asp511Gly)	ClinVar dbSNP
8	g.60841989A>T	CA371319496	CHD7	c.4787A>T (p.Asp1596Val) c.1717-20240A>T (n.1717-20240A>T) c.2774A>T (p.Asp925Val) c.2324A>T (p.Asp775Val) c.1532A>T (p.Asp511Val)	ClinVar dbSNP
8	g.60841990T>A	CA371319498	CHD7	c.4788T>A (p.Asp1596Glu) c.1717-20239T>A (n.1717-20239T>A) c.2775T>A (p.Asp925Glu) c.2325T>A (p.Asp775Glu) c.1533T>A (p.Asp511Glu)
8	g.60841990T>C	CA460848225	CHD7	c.4788T>C (p.Asp1596=) c.1717-20239T>C (n.1717-20239T>C) c.2775T>C (p.Asp925=) c.2325T>C (p.Asp775=) c.1533T>C (p.Asp511=)
8	g.60841990T>G	CA371319500	CHD7	c.4788T>G (p.Asp1596Glu) c.1717-20239T>G (n.1717-20239T>G) c.2775T>G (p.Asp925Glu) c.2325T>G (p.Asp775Glu) c.1533T>G (p.Asp511Glu)
8	g.60841991A>C	CA371319507	CHD7	c.4789A>C (p.Lys1597Gln) c.1717-20238A>C (n.1717-20238A>C) c.2776A>C (p.Lys926Gln) c.2326A>C (p.Lys776Gln) c.1534A>C (p.Lys512Gln)
8	g.60841991A>G	CA371319505	CHD7	c.4789A>G (p.Lys1597Glu) c.1717-20238A>G (n.1717-20238A>G) c.2776A>G (p.Lys926Glu) c.2326A>G (p.Lys776Glu) c.1534A>G (p.Lys512Glu)
8	g.60841991A>T	CA371319503	CHD7	c.4789A>T (p.Lys1597Ter) c.1717-20238A>T (n.1717-20238A>T) c.2776A>T (p.Lys926Ter) c.2326A>T (p.Lys776Ter) c.1534A>T (p.Lys512Ter)
8	g.60841992A=	CA1788123175	CHD7	c.4790A= (p.Lys1597=) c.1717-20237A= (n.1717-20237A=) c.2777A= (p.Lys926=) c.2327A= (p.Lys776=) c.1535A= (p.Lys512=)
8	g.60841992A>C	CA371319512	CHD7	c.4790A>C (p.Lys1597Thr) c.1717-20237A>C (n.1717-20237A>C) c.2777A>C (p.Lys926Thr) c.2327A>C (p.Lys776Thr) c.1535A>C (p.Lys512Thr)
8	g.60841992A>G	CA371319509	CHD7	c.4790A>G (p.Lys1597Arg) c.1717-20237A>G (n.1717-20237A>G) c.2777A>G (p.Lys926Arg) c.2327A>G (p.Lys776Arg) c.1535A>G (p.Lys512Arg)	dbSNP gnomAD v2 gnomAD v4
8	g.60841992A>T	CA371319510	CHD7	c.4790A>T (p.Lys1597Met) c.1717-20237A>T (n.1717-20237A>T) c.2777A>T (p.Lys926Met) c.2327A>T (p.Lys776Met) c.1535A>T (p.Lys512Met)
8	g.60841993G>A	CA460848226	CHD7	c.4791G>A (p.Lys1597=) c.1717-20236G>A (n.1717-20236G>A) c.2778G>A (p.Lys926=) c.2328G>A (p.Lys776=) c.1536G>A (p.Lys512=)
8	g.60841993G>C	CA371319514	CHD7	c.4791G>C (p.Lys1597Asn) c.1717-20236G>C (n.1717-20236G>C) c.2778G>C (p.Lys926Asn) c.2328G>C (p.Lys776Asn) c.1536G>C (p.Lys512Asn)
8	g.60841993G>T	CA371319515	CHD7	c.4791G>T (p.Lys1597Asn) c.1717-20236G>T (n.1717-20236G>T) c.2778G>T (p.Lys926Asn) c.2328G>T (p.Lys776Asn) c.1536G>T (p.Lys512Asn)
8	g.60841994T>A	CA371319517	CHD7	c.4792T>A (p.Ser1598Thr) c.1717-20235T>A (n.1717-20235T>A) c.2779T>A (p.Ser927Thr) c.2329T>A (p.Ser777Thr) c.1537T>A (p.Ser513Thr)	dbSNP gnomAD v4
8	g.60841994T>C	CA371319519	CHD7	c.4792T>C (p.Ser1598Pro) c.1717-20235T>C (n.1717-20235T>C) c.2779T>C (p.Ser927Pro) c.2329T>C (p.Ser777Pro) c.1537T>C (p.Ser513Pro)
8	g.60841994T>G	CA371319521	CHD7	c.4792T>G (p.Ser1598Ala) c.1717-20235T>G (n.1717-20235T>G) c.2779T>G (p.Ser927Ala) c.2329T>G (p.Ser777Ala) c.1537T>G (p.Ser513Ala)
8	g.60841994T=	CA1788123177	CHD7	c.4792T= (p.Ser1598=) c.1717-20235T= (n.1717-20235T=) c.2779T= (p.Ser927=) c.2329T= (p.Ser777=) c.1537T= (p.Ser513=)
8	g.60841995C>A	CA371319523	CHD7	c.4793C>A (p.Ser1598Ter) c.1717-20234C>A (n.1717-20234C>A) c.2780C>A (p.Ser927Ter) c.2330C>A (p.Ser777Ter) c.1538C>A (p.Ser513Ter)
8	g.60841995C=	CA1788123185	CHD7	c.4793C= (p.Ser1598=) c.1717-20234C= (n.1717-20234C=) c.2780C= (p.Ser927=) c.2330C= (p.Ser777=) c.1538C= (p.Ser513=)
8	g.60841995C>G	CA371319525	CHD7	c.4793C>G (p.Ser1598Ter) c.1717-20234C>G (n.1717-20234C>G) c.2780C>G (p.Ser927Ter) c.2330C>G (p.Ser777Ter) c.1538C>G (p.Ser513Ter)	ClinVar dbSNP
8	g.60841995C>T	CA371319526	CHD7	c.4793C>T (p.Ser1598Leu) c.1717-20234C>T (n.1717-20234C>T) c.2780C>T (p.Ser927Leu) c.2330C>T (p.Ser777Leu) c.1538C>T (p.Ser513Leu)	gnomAD v4
8	g.60841996A>C	CA460848227	CHD7	c.4794A>C (p.Ser1598=) c.1717-20233A>C (n.1717-20233A>C) c.2781A>C (p.Ser927=) c.2331A>C (p.Ser777=) c.1539A>C (p.Ser513=)
8	g.60841996A>G	CA460848228	CHD7	c.4794A>G (p.Ser1598=) c.1717-20233A>G (n.1717-20233A>G) c.2781A>G (p.Ser927=) c.2331A>G (p.Ser777=) c.1539A>G (p.Ser513=)	gnomAD v4
8	g.60841996A>T	CA460848229	CHD7	c.4794A>T (p.Ser1598=) c.1717-20233A>T (n.1717-20233A>T) c.2781A>T (p.Ser927=) c.2331A>T (p.Ser777=) c.1539A>T (p.Ser513=)
8	g.60841997C>A	CA371319528	CHD7	c.4795C>A (p.Gln1599Lys) c.1717-20232C>A (n.1717-20232C>A) c.2782C>A (p.Gln928Lys) c.2332C>A (p.Gln778Lys) c.1540C>A (p.Gln514Lys)
8	g.60841997C=	CA1788123195	CHD7	c.4795C= (p.Gln1599=) c.1717-20232C= (n.1717-20232C=) c.2782C= (p.Gln928=) c.2332C= (p.Gln778=) c.1540C= (p.Gln514=)
8	g.60841997C>G	CA4760193	CHD7	c.4795C>G (p.Gln1599Glu) c.1717-20232C>G (n.1717-20232C>G) c.2782C>G (p.Gln928Glu) c.2332C>G (p.Gln778Glu) c.1540C>G (p.Gln514Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841997C>T	CA232419	CHD7	c.4795C>T (p.Gln1599Ter) c.1717-20232C>T (n.1717-20232C>T) c.2782C>T (p.Gln928Ter) c.2332C>T (p.Gln778Ter) c.1540C>T (p.Gln514Ter)	ClinVar dbSNP
8	g.60841998A>C	CA371319535	CHD7	c.4796A>C (p.Gln1599Pro) c.1717-20231A>C (n.1717-20231A>C) c.2783A>C (p.Gln928Pro) c.2333A>C (p.Gln778Pro) c.1541A>C (p.Gln514Pro)
8	g.60841998A>G	CA371319532	CHD7	c.4796A>G (p.Gln1599Arg) c.1717-20231A>G (n.1717-20231A>G) c.2783A>G (p.Gln928Arg) c.2333A>G (p.Gln778Arg) c.1541A>G (p.Gln514Arg)	ClinVar gnomAD v4
8	g.60841998A>T	CA371319533	CHD7	c.4796A>T (p.Gln1599Leu) c.1717-20231A>T (n.1717-20231A>T) c.2783A>T (p.Gln928Leu) c.2333A>T (p.Gln778Leu) c.1541A>T (p.Gln514Leu)	gnomAD v4
8	g.60841999G>A	CA460848230	CHD7	c.4797G>A (p.Gln1599=) c.1717-20230G>A (n.1717-20230G>A) c.2784G>A (p.Gln928=) c.2334G>A (p.Gln778=) c.1542G>A (p.Gln514=)
8	g.60841999G>C	CA371319537	CHD7	c.4797G>C (p.Gln1599His) c.1717-20230G>C (n.1717-20230G>C) c.2784G>C (p.Gln928His) c.2334G>C (p.Gln778His) c.1542G>C (p.Gln514His)	gnomAD v4
8	g.60841999G>T	CA371319538	CHD7	c.4797G>T (p.Gln1599His) c.1717-20230G>T (n.1717-20230G>T) c.2784G>T (p.Gln928His) c.2334G>T (p.Gln778His) c.1542G>T (p.Gln514His)
8	g.60842000G>A	CA371319541	CHD7	c.4798G>A (p.Gly1600Ser) c.1717-20229G>A (n.1717-20229G>A) c.2785G>A (p.Gly929Ser) c.2335G>A (p.Gly779Ser) c.1543G>A (p.Gly515Ser)	ClinVar dbSNP
8	g.60842000G>C	CA371319542	CHD7	c.4798G>C (p.Gly1600Arg) c.1717-20229G>C (n.1717-20229G>C) c.2785G>C (p.Gly929Arg) c.2335G>C (p.Gly779Arg) c.1543G>C (p.Gly515Arg)
8	g.60842000G>T	CA371319544	CHD7	c.4798G>T (p.Gly1600Cys) c.1717-20229G>T (n.1717-20229G>T) c.2785G>T (p.Gly929Cys) c.2335G>T (p.Gly779Cys) c.1543G>T (p.Gly515Cys)
8	g.60842001G>A	CA371319546	CHD7	c.4799G>A (p.Gly1600Asp) c.1717-20228G>A (n.1717-20228G>A) c.2786G>A (p.Gly929Asp) c.2336G>A (p.Gly779Asp) c.1544G>A (p.Gly515Asp)
8	g.60842001G>C	CA371319548	CHD7	c.4799G>C (p.Gly1600Ala) c.1717-20228G>C (n.1717-20228G>C) c.2786G>C (p.Gly929Ala) c.2336G>C (p.Gly779Ala) c.1544G>C (p.Gly515Ala)
8	g.60842001G=	CA1788123200	CHD7	c.4799G= (p.Gly1600=) c.1717-20228G= (n.1717-20228G=) c.2786G= (p.Gly929=) c.2336G= (p.Gly779=) c.1544G= (p.Gly515=)
8	g.60842001G>T	CA4760194	CHD7	c.4799G>T (p.Gly1600Val) c.1717-20228G>T (n.1717-20228G>T) c.2786G>T (p.Gly929Val) c.2336G>T (p.Gly779Val) c.1544G>T (p.Gly515Val)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60842002C>A	CA460848231	CHD7	c.4800C>A (p.Gly1600=) c.1717-20227C>A (n.1717-20227C>A) c.2787C>A (p.Gly929=) c.2337C>A (p.Gly779=) c.1545C>A (p.Gly515=)	gnomAD v4
8	g.60842002C=	CA1788123201	CHD7	c.4800C= (p.Gly1600=) c.1717-20227C= (n.1717-20227C=) c.2787C= (p.Gly929=) c.2337C= (p.Gly779=) c.1545C= (p.Gly515=)
8	g.60842002C>G	CA460848232	CHD7	c.4800C>G (p.Gly1600=) c.1717-20227C>G (n.1717-20227C>G) c.2787C>G (p.Gly929=) c.2337C>G (p.Gly779=) c.1545C>G (p.Gly515=)
8	g.60842002C>T	CA4760195	CHD7	c.4800C>T (p.Gly1600=) c.1717-20227C>T (n.1717-20227C>T) c.2787C>T (p.Gly929=) c.2337C>T (p.Gly779=) c.1545C>T (p.Gly515=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60842003T>A	CA371319551	CHD7	c.4801T>A (p.Tyr1601Asn) c.1717-20226T>A (n.1717-20226T>A) c.2788T>A (p.Tyr930Asn) c.2338T>A (p.Tyr780Asn) c.1546T>A (p.Tyr516Asn)
8	g.60842003T>C	CA371319552	CHD7	c.4801T>C (p.Tyr1601His) c.1717-20226T>C (n.1717-20226T>C) c.2788T>C (p.Tyr930His) c.2338T>C (p.Tyr780His) c.1546T>C (p.Tyr516His)
8	g.60842003T>G	CA371319553	CHD7	c.4801T>G (p.Tyr1601Asp) c.1717-20226T>G (n.1717-20226T>G) c.2788T>G (p.Tyr930Asp) c.2338T>G (p.Tyr780Asp) c.1546T>G (p.Tyr516Asp)
8	g.60842004A>C	CA371319557	CHD7	c.4802A>C (p.Tyr1601Ser) c.1717-20225A>C (n.1717-20225A>C) c.2789A>C (p.Tyr930Ser) c.2339A>C (p.Tyr780Ser) c.1547A>C (p.Tyr516Ser)
8	g.60842004A>G	CA371319559	CHD7	c.4802A>G (p.Tyr1601Cys) c.1717-20225A>G (n.1717-20225A>G) c.2789A>G (p.Tyr930Cys) c.2339A>G (p.Tyr780Cys) c.1547A>G (p.Tyr516Cys)
8	g.60842004A>T	CA371319556	CHD7	c.4802A>T (p.Tyr1601Phe) c.1717-20225A>T (n.1717-20225A>T) c.2789A>T (p.Tyr930Phe) c.2339A>T (p.Tyr780Phe) c.1547A>T (p.Tyr516Phe)	ClinVar dbSNP gnomAD v4
8	g.60842005T>A	CA371319560	CHD7	c.4803T>A (p.Tyr1601Ter) c.1717-20224T>A (n.1717-20224T>A) c.2790T>A (p.Tyr930Ter) c.2340T>A (p.Tyr780Ter) c.1548T>A (p.Tyr516Ter)
8	g.60842005T>C	CA460848233	CHD7	c.4803T>C (p.Tyr1601=) c.1717-20224T>C (n.1717-20224T>C) c.2790T>C (p.Tyr930=) c.2340T>C (p.Tyr780=) c.1548T>C (p.Tyr516=)
8	g.60842005T>G	CA371319561	CHD7	c.4803T>G (p.Tyr1601Ter) c.1717-20224T>G (n.1717-20224T>G) c.2790T>G (p.Tyr930Ter) c.2340T>G (p.Tyr780Ter) c.1548T>G (p.Tyr516Ter)
8	g.60842006G>A	CA4760196	CHD7	c.4804G>A (p.Ala1602Thr) c.1717-20223G>A (n.1717-20223G>A) c.2791G>A (p.Ala931Thr) c.2341G>A (p.Ala781Thr) c.1549G>A (p.Ala517Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60842006G>C	CA371319563	CHD7	c.4804G>C (p.Ala1602Pro) c.1717-20223G>C (n.1717-20223G>C) c.2791G>C (p.Ala931Pro) c.2341G>C (p.Ala781Pro) c.1549G>C (p.Ala517Pro)
8	g.60842006G=	CA1788123209	CHD7	c.4804G= (p.Ala1602=) c.1717-20223G= (n.1717-20223G=) c.2791G= (p.Ala931=) c.2341G= (p.Ala781=) c.1549G= (p.Ala517=)
8	g.60842006G>T	CA371319565	CHD7	c.4804G>T (p.Ala1602Ser) c.1717-20223G>T (n.1717-20223G>T) c.2791G>T (p.Ala931Ser) c.2341G>T (p.Ala781Ser) c.1549G>T (p.Ala517Ser)	gnomAD v4
8	g.60842007C>A	CA371319566	CHD7	c.4805C>A (p.Ala1602Glu) c.1717-20222C>A (n.1717-20222C>A) c.2792C>A (p.Ala931Glu) c.2342C>A (p.Ala781Glu) c.1550C>A (p.Ala517Glu)
8	g.60842007C>G	CA371319567	CHD7	c.4805C>G (p.Ala1602Gly) c.1717-20222C>G (n.1717-20222C>G) c.2792C>G (p.Ala931Gly) c.2342C>G (p.Ala781Gly) c.1550C>G (p.Ala517Gly)
8	g.60842007C>T	CA371319568	CHD7	c.4805C>T (p.Ala1602Val) c.1717-20222C>T (n.1717-20222C>T) c.2792C>T (p.Ala931Val) c.2342C>T (p.Ala781Val) c.1550C>T (p.Ala517Val)
8	g.60842008A>C	CA460848234	CHD7	c.4806A>C (p.Ala1602=) c.1717-20221A>C (n.1717-20221A>C) c.2793A>C (p.Ala931=) c.2343A>C (p.Ala781=) c.1551A>C (p.Ala517=)
8	g.60842008A>G	CA460848235	CHD7	c.4806A>G (p.Ala1602=) c.1717-20221A>G (n.1717-20221A>G) c.2793A>G (p.Ala931=) c.2343A>G (p.Ala781=) c.1551A>G (p.Ala517=)
8	g.60842008A>T	CA460848236	CHD7	c.4806A>T (p.Ala1602=) c.1717-20221A>T (n.1717-20221A>T) c.2793A>T (p.Ala931=) c.2343A>T (p.Ala781=) c.1551A>T (p.Ala517=)
8	g.60842009A=	CA1788123218	CHD7	c.4807A= (p.Arg1603=) c.1717-20220A= (n.1717-20220A=) c.2794A= (p.Arg932=) c.2344A= (p.Arg782=) c.1552A= (p.Arg518=)
8	g.60842009A>C	CA460848237	CHD7	c.4807A>C (p.Arg1603=) c.1717-20220A>C (n.1717-20220A>C) c.2794A>C (p.Arg932=) c.2344A>C (p.Arg782=) c.1552A>C (p.Arg518=)	ClinVar dbSNP gnomAD v4
8	g.60842009A>G	CA371319569	CHD7	c.4807A>G (p.Arg1603Gly) c.1717-20220A>G (n.1717-20220A>G) c.2794A>G (p.Arg932Gly) c.2344A>G (p.Arg782Gly) c.1552A>G (p.Arg518Gly)
8	g.60842009A>T	CA371319570	CHD7	c.4807A>T (p.Arg1603Trp) c.1717-20220A>T (n.1717-20220A>T) c.2794A>T (p.Arg932Trp) c.2344A>T (p.Arg782Trp) c.1552A>T (p.Arg518Trp)
8	g.60842010G>A	CA371319573	CHD7	c.4808G>A (p.Arg1603Lys) c.1717-20219G>A (n.1717-20219G>A) c.2795G>A (p.Arg932Lys) c.2345G>A (p.Arg782Lys) c.1553G>A (p.Arg518Lys)
8	g.60842010G>C	CA371319574	CHD7	c.4808G>C (p.Arg1603Thr) c.1717-20219G>C (n.1717-20219G>C) c.2795G>C (p.Arg932Thr) c.2345G>C (p.Arg782Thr) c.1553G>C (p.Arg518Thr)
8	g.60842010G>T	CA371319575	CHD7	c.4808G>T (p.Arg1603Met) c.1717-20219G>T (n.1717-20219G>T) c.2795G>T (p.Arg932Met) c.2345G>T (p.Arg782Met) c.1553G>T (p.Arg518Met)
8	g.60842011G>A	CA4760197	CHD7	c.4809G>A (p.Arg1603=) c.1717-20218G>A (n.1717-20218G>A) c.2796G>A (p.Arg932=) c.2346G>A (p.Arg782=) c.1554G>A (p.Arg518=)	dbSNP ExAC gnomAD v2
8	g.60842011G>C	CA371319576	CHD7	c.4809G>C (p.Arg1603Ser) c.1717-20218G>C (n.1717-20218G>C) c.2796G>C (p.Arg932Ser) c.2346G>C (p.Arg782Ser) c.1554G>C (p.Arg518Ser)
8	g.60842011G=	CA1788123223	CHD7	c.4809G= (p.Arg1603=) c.1717-20218G= (n.1717-20218G=) c.2796G= (p.Arg932=) c.2346G= (p.Arg782=) c.1554G= (p.Arg518=)
8	g.60842011G>T	CA371319577	CHD7	c.4809G>T (p.Arg1603Ser) c.1717-20218G>T (n.1717-20218G>T) c.2796G>T (p.Arg932Ser) c.2346G>T (p.Arg782Ser) c.1554G>T (p.Arg518Ser)
8	g.60842012A>C	CA371319579	CHD7	c.4810A>C (p.Ser1604Arg) c.1717-20217A>C (n.1717-20217A>C) c.2797A>C (p.Ser933Arg) c.2347A>C (p.Ser783Arg) c.1555A>C (p.Ser519Arg)
8	g.60842012A>G	CA371319580	CHD7	c.4810A>G (p.Ser1604Gly) c.1717-20217A>G (n.1717-20217A>G) c.2797A>G (p.Ser933Gly) c.2347A>G (p.Ser783Gly) c.1555A>G (p.Ser519Gly)	gnomAD v4
8	g.60842012A>T	CA371319581	CHD7	c.4810A>T (p.Ser1604Cys) c.1717-20217A>T (n.1717-20217A>T) c.2797A>T (p.Ser933Cys) c.2347A>T (p.Ser783Cys) c.1555A>T (p.Ser519Cys)	COSMIC
8	g.60842013G>A	CA371319582	CHD7	c.4811G>A (p.Ser1604Asn) c.1717-20216G>A (n.1717-20216G>A) c.2798G>A (p.Ser933Asn) c.2348G>A (p.Ser783Asn) c.1556G>A (p.Ser519Asn)	gnomAD v4
8	g.60842013G>C	CA4760198	CHD7	c.4811G>C (p.Ser1604Thr) c.1717-20216G>C (n.1717-20216G>C) c.2798G>C (p.Ser933Thr) c.2348G>C (p.Ser783Thr) c.1556G>C (p.Ser519Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60842013G=	CA1788123228	CHD7	c.4811G= (p.Ser1604=) c.1717-20216G= (n.1717-20216G=) c.2798G= (p.Ser933=) c.2348G= (p.Ser783=) c.1556G= (p.Ser519=)
8	g.60842013G>T	CA371319583	CHD7	c.4811G>T (p.Ser1604Ile) c.1717-20216G>T (n.1717-20216G>T) c.2798G>T (p.Ser933Ile) c.2348G>T (p.Ser783Ile) c.1556G>T (p.Ser519Ile)
8	g.60842014T>A	CA371319586	CHD7	c.4812T>A (p.Ser1604Arg) c.1717-20215T>A (n.1717-20215T>A) c.2799T>A (p.Ser933Arg) c.2349T>A (p.Ser783Arg) c.1557T>A (p.Ser519Arg)
8	g.60842014T>C	CA177350039	CHD7	c.4812T>C (p.Ser1604=) c.1717-20215T>C (n.1717-20215T>C) c.2799T>C (p.Ser933=) c.2349T>C (p.Ser783=) c.1557T>C (p.Ser519=)	dbSNP
8	g.60842014T>G	CA371319588	CHD7	c.4812T>G (p.Ser1604Arg) c.1717-20215T>G (n.1717-20215T>G) c.2799T>G (p.Ser933Arg) c.2349T>G (p.Ser783Arg) c.1557T>G (p.Ser519Arg)
8	g.60842014T=	CA1788123233	CHD7	c.4812T= (p.Ser1604=) c.1717-20215T= (n.1717-20215T=) c.2799T= (p.Ser933=) c.2349T= (p.Ser783=) c.1557T= (p.Ser519=)
8	g.60842015G>A	CA371319589	CHD7	c.4813G>A (p.Glu1605Lys) c.1717-20214G>A (n.1717-20214G>A) c.2800G>A (p.Glu934Lys) c.2350G>A (p.Glu784Lys) c.1558G>A (p.Glu520Lys)
8	g.60842015G>C	CA371319590	CHD7	c.4813G>C (p.Glu1605Gln) c.1717-20214G>C (n.1717-20214G>C) c.2800G>C (p.Glu934Gln) c.2350G>C (p.Glu784Gln) c.1558G>C (p.Glu520Gln)	gnomAD v4
8	g.60842015G>T	CA371319591	CHD7	c.4813G>T (p.Glu1605Ter) c.1717-20214G>T (n.1717-20214G>T) c.2800G>T (p.Glu934Ter) c.2350G>T (p.Glu784Ter) c.1558G>T (p.Glu520Ter)
8	g.60842016A>C	CA371319594	CHD7	c.4814A>C (p.Glu1605Ala) c.1717-20213A>C (n.1717-20213A>C) c.2801A>C (p.Glu934Ala) c.2351A>C (p.Glu784Ala) c.1559A>C (p.Glu520Ala)
8	g.60842016A>G	CA371319595	CHD7	c.4814A>G (p.Glu1605Gly) c.1717-20213A>G (n.1717-20213A>G) c.2801A>G (p.Glu934Gly) c.2351A>G (p.Glu784Gly) c.1559A>G (p.Glu520Gly)
8	g.60842016A>T	CA371319593	CHD7	c.4814A>T (p.Glu1605Val) c.1717-20213A>T (n.1717-20213A>T) c.2801A>T (p.Glu934Val) c.2351A>T (p.Glu784Val) c.1559A>T (p.Glu520Val)
8	g.60842017A>C	CA371319596	CHD7	c.4815A>C (p.Glu1605Asp) c.1717-20212A>C (n.1717-20212A>C) c.2802A>C (p.Glu934Asp) c.2352A>C (p.Glu784Asp) c.1560A>C (p.Glu520Asp)
8	g.60842017A>G	CA460848238	CHD7	c.4815A>G (p.Glu1605=) c.1717-20212A>G (n.1717-20212A>G) c.2802A>G (p.Glu934=) c.2352A>G (p.Glu784=) c.1560A>G (p.Glu520=)	gnomAD v4
8	g.60842017A>T	CA371319597	CHD7	c.4815A>T (p.Glu1605Asp) c.1717-20212A>T (n.1717-20212A>T) c.2802A>T (p.Glu934Asp) c.2352A>T (p.Glu784Asp) c.1560A>T (p.Glu520Asp)	gnomAD v4
8	g.60842018T>A	CA371319598	CHD7	c.4816T>A (p.Cys1606Ser) c.1717-20211T>A (n.1717-20211T>A) c.2803T>A (p.Cys935Ser) c.2353T>A (p.Cys785Ser) c.1561T>A (p.Cys521Ser)
8	g.60842018T>C	CA371319599	CHD7	c.4816T>C (p.Cys1606Arg) c.1717-20211T>C (n.1717-20211T>C) c.2803T>C (p.Cys935Arg) c.2353T>C (p.Cys785Arg) c.1561T>C (p.Cys521Arg)
8	g.60842018T>G	CA371319600	CHD7	c.4816T>G (p.Cys1606Gly) c.1717-20211T>G (n.1717-20211T>G) c.2803T>G (p.Cys935Gly) c.2353T>G (p.Cys785Gly) c.1561T>G (p.Cys521Gly)
8	g.60842018_60842020delinsGGC	CA2573143264	CHD7	c.4816_4818delinsGGC (p.Cys1606Gly) c.1717-20211_1717-20209delinsGGC (n.1717-20211_1717-20209delinsGGC) c.2803_2805delinsGGC (p.Cys935Gly) c.2353_2355delinsGGC (p.Cys785Gly) c.1561_1563delinsGGC (p.Cys521Gly)	ClinVar dbSNP
8	g.60842019G>A	CA371319601	CHD7	c.4817G>A (p.Cys1606Tyr) c.1717-20210G>A (n.1717-20210G>A) c.2804G>A (p.Cys935Tyr) c.2354G>A (p.Cys785Tyr) c.1562G>A (p.Cys521Tyr)
8	g.60842019G>C	CA371319602	CHD7	c.4817G>C (p.Cys1606Ser) c.1717-20210G>C (n.1717-20210G>C) c.2804G>C (p.Cys935Ser) c.2354G>C (p.Cys785Ser) c.1562G>C (p.Cys521Ser)
8	g.60842019G>T	CA371319603	CHD7	c.4817G>T (p.Cys1606Phe) c.1717-20210G>T (n.1717-20210G>T) c.2804G>T (p.Cys935Phe) c.2354G>T (p.Cys785Phe) c.1562G>T (p.Cys521Phe)
8	g.60842020T>A	CA371319604	CHD7	c.4818T>A (p.Cys1606Ter) c.1717-20209T>A (n.1717-20209T>A) c.2805T>A (p.Cys935Ter) c.2355T>A (p.Cys785Ter) c.1563T>A (p.Cys521Ter)
8	g.60842020T>C	CA460848239	CHD7	c.4818T>C (p.Cys1606=) c.1717-20209T>C (n.1717-20209T>C) c.2805T>C (p.Cys935=) c.2355T>C (p.Cys785=) c.1563T>C (p.Cys521=)
8	g.60842020T>G	CA371319605	CHD7	c.4818T>G (p.Cys1606Trp) c.1717-20209T>G (n.1717-20209T>G) c.2805T>G (p.Cys935Trp) c.2355T>G (p.Cys785Trp) c.1563T>G (p.Cys521Trp)
8	g.60842021T>A	CA371319607	CHD7	c.4819T>A (p.Phe1607Ile) c.1717-20208T>A (n.1717-20208T>A) c.2806T>A (p.Phe936Ile) c.2356T>A (p.Phe786Ile) c.1564T>A (p.Phe522Ile)
8	g.60842021T>C	CA371319608	CHD7	c.4819T>C (p.Phe1607Leu) c.1717-20208T>C (n.1717-20208T>C) c.2806T>C (p.Phe936Leu) c.2356T>C (p.Phe786Leu) c.1564T>C (p.Phe522Leu)
8	g.60842021T>G	CA371319609	CHD7	c.4819T>G (p.Phe1607Val) c.1717-20208T>G (n.1717-20208T>G) c.2806T>G (p.Phe936Val) c.2356T>G (p.Phe786Val) c.1564T>G (p.Phe522Val)
8	g.60842022T>A	CA371319614	CHD7	c.4820T>A (p.Phe1607Tyr) c.1717-20207T>A (n.1717-20207T>A) c.2807T>A (p.Phe936Tyr) c.2357T>A (p.Phe786Tyr) c.1565T>A (p.Phe522Tyr)
8	g.60842022T>C	CA371319613	CHD7	c.4820T>C (p.Phe1607Ser) c.1717-20207T>C (n.1717-20207T>C) c.2807T>C (p.Phe936Ser) c.2357T>C (p.Phe786Ser) c.1565T>C (p.Phe522Ser)	gnomAD v4
8	g.60842022T>G	CA371319610	CHD7	c.4820T>G (p.Phe1607Cys) c.1717-20207T>G (n.1717-20207T>G) c.2807T>G (p.Phe936Cys) c.2357T>G (p.Phe786Cys) c.1565T>G (p.Phe522Cys)
8	g.60842023C>A	CA371319616	CHD7	c.4821C>A (p.Phe1607Leu) c.1717-20206C>A (n.1717-20206C>A) c.2808C>A (p.Phe936Leu) c.2358C>A (p.Phe786Leu) c.1566C>A (p.Phe522Leu)
8	g.60842023C>G	CA371319618	CHD7	c.4821C>G (p.Phe1607Leu) c.1717-20206C>G (n.1717-20206C>G) c.2808C>G (p.Phe936Leu) c.2358C>G (p.Phe786Leu) c.1566C>G (p.Phe522Leu)
8	g.60842023C>T	CA460848240	CHD7	c.4821C>T (p.Phe1607=) c.1717-20206C>T (n.1717-20206C>T) c.2808C>T (p.Phe936=) c.2358C>T (p.Phe786=) c.1566C>T (p.Phe522=)
8	g.60842024del	CA2695209742	CHD7	c.4822del (p.Arg1608GlyfsTer?) c.1717-20205del (n.1717-20205del) c.2809del (p.Arg937GlyfsTer?) c.2359del (p.Arg787GlyfsTer?) c.1567del (p.Arg523GlyfsTer?) c.4822del (p.Arg1608GlyfsTer11)
8	g.60842024A>C	CA460848241	CHD7	c.4822A>C (p.Arg1608=) c.1717-20205A>C (n.1717-20205A>C) c.2809A>C (p.Arg937=) c.2359A>C (p.Arg787=) c.1567A>C (p.Arg523=)
8	g.60842024A>G	CA371319621	CHD7	c.4822A>G (p.Arg1608Gly) c.1717-20205A>G (n.1717-20205A>G) c.2809A>G (p.Arg937Gly) c.2359A>G (p.Arg787Gly) c.1567A>G (p.Arg523Gly)	COSMIC
8	g.60842024A>T	CA371319622	CHD7	c.4822A>T (p.Arg1608Trp) c.1717-20205A>T (n.1717-20205A>T) c.2809A>T (p.Arg937Trp) c.2359A>T (p.Arg787Trp) c.1567A>T (p.Arg523Trp)
8	g.60842025G>A	CA371319624	CHD7	c.4823G>A (p.Arg1608Lys) c.1717-20204G>A (n.1717-20204G>A) c.2810G>A (p.Arg937Lys) c.2360G>A (p.Arg787Lys) c.1568G>A (p.Arg523Lys)	COSMIC
8	g.60842025G>C	CA371319626	CHD7	c.4823G>C (p.Arg1608Thr) c.1717-20204G>C (n.1717-20204G>C) c.2810G>C (p.Arg937Thr) c.2360G>C (p.Arg787Thr) c.1568G>C (p.Arg523Thr)
8	g.60842025G>T	CA371319627	CHD7	c.4823G>T (p.Arg1608Met) c.1717-20204G>T (n.1717-20204G>T) c.2810G>T (p.Arg937Met) c.2360G>T (p.Arg787Met) c.1568G>T (p.Arg523Met)
8	g.60842026G>A	CA460848242	CHD7	c.4824G>A (p.Arg1608=) c.1717-20203G>A (n.1717-20203G>A) c.2811G>A (p.Arg937=) c.2361G>A (p.Arg787=) c.1569G>A (p.Arg523=)	ClinVar gnomAD v4
8	g.60842026G>C	CA371319628	CHD7	c.4824G>C (p.Arg1608Ser) c.1717-20203G>C (n.1717-20203G>C) c.2811G>C (p.Arg937Ser) c.2361G>C (p.Arg787Ser) c.1569G>C (p.Arg523Ser)	gnomAD v4
8	g.60842026G=	CA1788123240	CHD7	c.4824G= (p.Arg1608=) c.1717-20203G= (n.1717-20203G=) c.2811G= (p.Arg937=) c.2361G= (p.Arg787=) c.1569G= (p.Arg523=)
8	g.60842026G>T	CA4760199	CHD7	c.4824G>T (p.Arg1608Ser) c.1717-20203G>T (n.1717-20203G>T) c.2811G>T (p.Arg937Ser) c.2361G>T (p.Arg787Ser) c.1569G>T (p.Arg523Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60842027G>A	CA371319629	CHD7	c.4825G>A (p.Val1609Met) c.1717-20202G>A (n.1717-20202G>A) c.2812G>A (p.Val938Met) c.2362G>A (p.Val788Met) c.1570G>A (p.Val524Met)	gnomAD v4
8	g.60842027G>C	CA371319630	CHD7	c.4825G>C (p.Val1609Leu) c.1717-20202G>C (n.1717-20202G>C) c.2812G>C (p.Val938Leu) c.2362G>C (p.Val788Leu) c.1570G>C (p.Val524Leu)
8	g.60842027G>T	CA371319632	CHD7	c.4825G>T (p.Val1609Leu) c.1717-20202G>T (n.1717-20202G>T) c.2812G>T (p.Val938Leu) c.2362G>T (p.Val788Leu) c.1570G>T (p.Val524Leu)
8	g.60842028T>A	CA371319637	CHD7	c.4826T>A (p.Val1609Glu) c.1717-20201T>A (n.1717-20201T>A) c.2813T>A (p.Val938Glu) c.2363T>A (p.Val788Glu) c.1571T>A (p.Val524Glu)
8	g.60842028T>C	CA371319635	CHD7	c.4826T>C (p.Val1609Ala) c.1717-20201T>C (n.1717-20201T>C) c.2813T>C (p.Val938Ala) c.2363T>C (p.Val788Ala) c.1571T>C (p.Val524Ala)
8	g.60842028T>G	CA371319633	CHD7	c.4826T>G (p.Val1609Gly) c.1717-20201T>G (n.1717-20201T>G) c.2813T>G (p.Val938Gly) c.2363T>G (p.Val788Gly) c.1571T>G (p.Val524Gly)
8	g.60842029G>A	CA460848243	CHD7	c.4827G>A (p.Val1609=) c.1717-20200G>A (n.1717-20200G>A) c.2814G>A (p.Val938=) c.2364G>A (p.Val788=) c.1572G>A (p.Val524=)
8	g.60842029G>C	CA460848244	CHD7	c.4827G>C (p.Val1609=) c.1717-20200G>C (n.1717-20200G>C) c.2814G>C (p.Val938=) c.2364G>C (p.Val788=) c.1572G>C (p.Val524=)
8	g.60842029G=	CA1788123246	CHD7	c.4827G= (p.Val1609=) c.1717-20200G= (n.1717-20200G=) c.2814G= (p.Val938=) c.2364G= (p.Val788=) c.1572G= (p.Val524=)
8	g.60842029G>T	CA460848245	CHD7	c.4827G>T (p.Val1609=) c.1717-20200G>T (n.1717-20200G>T) c.2814G>T (p.Val938=) c.2364G>T (p.Val788=) c.1572G>T (p.Val524=)	dbSNP gnomAD v2 gnomAD v4
8	g.60842030G>A	CA371319638	CHD7	c.4828G>A (p.Glu1610Lys) c.1717-20199G>A (n.1717-20199G>A) c.2815G>A (p.Glu939Lys) c.2365G>A (p.Glu789Lys) c.1573G>A (p.Glu525Lys)
8	g.60842030G>C	CA371319644	CHD7	c.4828G>C (p.Glu1610Gln) c.1717-20199G>C (n.1717-20199G>C) c.2815G>C (p.Glu939Gln) c.2365G>C (p.Glu789Gln) c.1573G>C (p.Glu525Gln)
8	g.60842030G>T	CA371319642	CHD7	c.4828G>T (p.Glu1610Ter) c.1717-20199G>T (n.1717-20199G>T) c.2815G>T (p.Glu939Ter) c.2365G>T (p.Glu789Ter) c.1573G>T (p.Glu525Ter)
8	g.60842031A=	CA1788123252	CHD7	c.4829A= (p.Glu1610=) c.1717-20198A= (n.1717-20198A=) c.2816A= (p.Glu939=) c.2366A= (p.Glu789=) c.1574A= (p.Glu525=)
8	g.60842031A>C	CA371319646	CHD7	c.4829A>C (p.Glu1610Ala) c.1717-20198A>C (n.1717-20198A>C) c.2816A>C (p.Glu939Ala) c.2366A>C (p.Glu789Ala) c.1574A>C (p.Glu525Ala)
8	g.60842031A>G	CA371319649	CHD7	c.4829A>G (p.Glu1610Gly) c.1717-20198A>G (n.1717-20198A>G) c.2816A>G (p.Glu939Gly) c.2366A>G (p.Glu789Gly) c.1574A>G (p.Glu525Gly)	dbSNP gnomAD v3 gnomAD v4
8	g.60842031A>T	CA371319648	CHD7	c.4829A>T (p.Glu1610Val) c.1717-20198A>T (n.1717-20198A>T) c.2816A>T (p.Glu939Val) c.2366A>T (p.Glu789Val) c.1574A>T (p.Glu525Val)
8	g.60842032G>A	CA460848246	CHD7	c.4830G>A (p.Glu1610=) c.1717-20197G>A (n.1717-20197G>A) c.2817G>A (p.Glu939=) c.2367G>A (p.Glu789=) c.1575G>A (p.Glu525=)	dbSNP
8	g.60842032G>C	CA371319650	CHD7	c.4830G>C (p.Glu1610Asp) c.1717-20197G>C (n.1717-20197G>C) c.2817G>C (p.Glu939Asp) c.2367G>C (p.Glu789Asp) c.1575G>C (p.Glu525Asp)
8	g.60842032G=	CA1788123256	CHD7	c.4830G= (p.Glu1610=) c.1717-20197G= (n.1717-20197G=) c.2817G= (p.Glu939=) c.2367G= (p.Glu789=) c.1575G= (p.Glu525=)
8	g.60842032G>T	CA371319651	CHD7	c.4830G>T (p.Glu1610Asp) c.1717-20197G>T (n.1717-20197G>T) c.2817G>T (p.Glu939Asp) c.2367G>T (p.Glu789Asp) c.1575G>T (p.Glu525Asp)
8	g.60842033A>C	CA371319652	CHD7	c.4831A>C (p.Lys1611Gln) c.1717-20196A>C (n.1717-20196A>C) c.2818A>C (p.Lys940Gln) c.2368A>C (p.Lys790Gln) c.1576A>C (p.Lys526Gln)
8	g.60842033A>G	CA371319653	CHD7	c.4831A>G (p.Lys1611Glu) c.1717-20196A>G (n.1717-20196A>G) c.2818A>G (p.Lys940Glu) c.2368A>G (p.Lys790Glu) c.1576A>G (p.Lys526Glu)	COSMIC
8	g.60842033A>T	CA371319654	CHD7	c.4831A>T (p.Lys1611Ter) c.1717-20196A>T (n.1717-20196A>T) c.2818A>T (p.Lys940Ter) c.2368A>T (p.Lys790Ter) c.1576A>T (p.Lys526Ter)
8	g.60842034A>C	CA371319655	CHD7	c.4832A>C (p.Lys1611Thr) c.1717-20195A>C (n.1717-20195A>C) c.2819A>C (p.Lys940Thr) c.2369A>C (p.Lys790Thr) c.1577A>C (p.Lys526Thr)
8	g.60842034A>G	CA371319656	CHD7	c.4832A>G (p.Lys1611Arg) c.1717-20195A>G (n.1717-20195A>G) c.2819A>G (p.Lys940Arg) c.2369A>G (p.Lys790Arg) c.1577A>G (p.Lys526Arg)
8	g.60842034A>T	CA371319657	CHD7	c.4832A>T (p.Lys1611Met) c.1717-20195A>T (n.1717-20195A>T) c.2819A>T (p.Lys940Met) c.2369A>T (p.Lys790Met) c.1577A>T (p.Lys526Met)
8	g.60842035G>A	CA460848247	CHD7	c.4833G>A (p.Lys1611=) c.1717-20194G>A (n.1717-20194G>A) c.2820G>A (p.Lys940=) c.2370G>A (p.Lys790=) c.1578G>A (p.Lys526=)
8	g.60842035G>C	CA371319659	CHD7	c.4833G>C (p.Lys1611Asn) c.1717-20194G>C (n.1717-20194G>C) c.2820G>C (p.Lys940Asn) c.2370G>C (p.Lys790Asn) c.1578G>C (p.Lys526Asn)
8	g.60842035G=	CA1788123268	CHD7	c.4833G= (p.Lys1611=) c.1717-20194G= (n.1717-20194G=) c.2820G= (p.Lys940=) c.2370G= (p.Lys790=) c.1578G= (p.Lys526=)
8	g.60842035G>T	CA371319661	CHD7	c.4833G>T (p.Lys1611Asn) c.1717-20194G>T (n.1717-20194G>T) c.2820G>T (p.Lys940Asn) c.2370G>T (p.Lys790Asn) c.1578G>T (p.Lys526Asn)	dbSNP gnomAD v2
8	g.60842035_60842036delinsGA	CA1788123263	CHD7	c.4833_4834delinsGA (p.Lys1611=) c.1717-20194_1717-20193delinsGA (n.1717-20194_1717-20193delinsGA) c.2820_2821delinsGA (p.Lys940=) c.2370_2371delinsGA (p.Lys790=) c.1578_1579delinsGA (p.Lys526=)
8	g.60842036A>C	CA371319662	CHD7	c.4834A>C (p.Asn1612His) c.1717-20193A>C (n.1717-20193A>C) c.2821A>C (p.Asn941His) c.2371A>C (p.Asn791His) c.1579A>C (p.Asn527His)
8	g.60842036A>G	CA371319664	CHD7	c.4834A>G (p.Asn1612Asp) c.1717-20193A>G (n.1717-20193A>G) c.2821A>G (p.Asn941Asp) c.2371A>G (p.Asn791Asp) c.1579A>G (p.Asn527Asp)
8	g.60842036A>T	CA371319665	CHD7	c.4834A>T (p.Asn1612Tyr) c.1717-20193A>T (n.1717-20193A>T) c.2821A>T (p.Asn941Tyr) c.2371A>T (p.Asn791Tyr) c.1579A>T (p.Asn527Tyr)
8	g.60842037del	CA658683509	CHD7	c.4835del (p.Asn1612IlefsTer28) c.1717-20192del (n.1717-20192del) c.2822del (p.Asn941IlefsTer28) c.2372del (p.Asn791IlefsTer28) c.1580del (p.Asn527IlefsTer28) c.4835del (p.Asn1612IlefsTer7)	ClinVar dbSNP
8	g.60842037A>C	CA371319670	CHD7	c.4835A>C (p.Asn1612Thr) c.1717-20192A>C (n.1717-20192A>C) c.2822A>C (p.Asn941Thr) c.2372A>C (p.Asn791Thr) c.1580A>C (p.Asn527Thr)
8	g.60842037A>G	CA371319667	CHD7	c.4835A>G (p.Asn1612Ser) c.1717-20192A>G (n.1717-20192A>G) c.2822A>G (p.Asn941Ser) c.2372A>G (p.Asn791Ser) c.1580A>G (p.Asn527Ser)
8	g.60842037A>T	CA371319669	CHD7	c.4835A>T (p.Asn1612Ile) c.1717-20192A>T (n.1717-20192A>T) c.2822A>T (p.Asn941Ile) c.2372A>T (p.Asn791Ile) c.1580A>T (p.Asn527Ile)
8	g.60842037_60842039delinsATC	CA1788123277	CHD7	c.4835_4837delinsATC (p.Asn1612=) c.1717-20192_1717-20190delinsATC (n.1717-20192_1717-20190delinsATC) c.2822_2824delinsATC (p.Asn941=) c.2372_2374delinsATC (p.Asn791=) c.1580_1582delinsATC (p.Asn527=)
8	g.60842038T>A	CA371319672	CHD7	c.4836T>A (p.Asn1612Lys) c.1717-20191T>A (n.1717-20191T>A) c.2823T>A (p.Asn941Lys) c.2373T>A (p.Asn791Lys) c.1581T>A (p.Asn527Lys)
8	g.60842038T>C	CA460848248	CHD7	c.4836T>C (p.Asn1612=) c.1717-20191T>C (n.1717-20191T>C) c.2823T>C (p.Asn941=) c.2373T>C (p.Asn791=) c.1581T>C (p.Asn527=)
8	g.60842038T>G	CA371319674	CHD7	c.4836T>G (p.Asn1612Lys) c.1717-20191T>G (n.1717-20191T>G) c.2823T>G (p.Asn941Lys) c.2373T>G (p.Asn791Lys) c.1581T>G (p.Asn527Lys)
8	g.60842039_60842040del	CA10602498	CHD7	c.4837_4838del (p.Leu1613AlafsTer18) c.1717-20190_1717-20189del (n.1717-20190_1717-20189del) c.2824_2825del (p.Leu942AlafsTer18) c.2374_2375del (p.Leu792AlafsTer18) c.1582_1583del (p.Leu528AlafsTer18) c.4837_4838del (p.Leu1613AlafsTer24)	ClinVar dbSNP
8	g.60842039C>A	CA371319676	CHD7	c.4837C>A (p.Leu1613Met) c.1717-20190C>A (n.1717-20190C>A) c.2824C>A (p.Leu942Met) c.2374C>A (p.Leu792Met) c.1582C>A (p.Leu528Met)
8	g.60842039C>G	CA371319678	CHD7	c.4837C>G (p.Leu1613Val) c.1717-20190C>G (n.1717-20190C>G) c.2824C>G (p.Leu942Val) c.2374C>G (p.Leu792Val) c.1582C>G (p.Leu528Val)
8	g.60842039C>T	CA460848249	CHD7	c.4837C>T (p.Leu1613=) c.1717-20190C>T (n.1717-20190C>T) c.2824C>T (p.Leu942=) c.2374C>T (p.Leu792=) c.1582C>T (p.Leu528=)	COSMIC
8	g.60842040T>A	CA371319680	CHD7	c.4838T>A (p.Leu1613Gln) c.1717-20189T>A (n.1717-20189T>A) c.2825T>A (p.Leu942Gln) c.2375T>A (p.Leu792Gln) c.1583T>A (p.Leu528Gln)
8	g.60842040T>C	CA371319681	CHD7	c.4838T>C (p.Leu1613Pro) c.1717-20189T>C (n.1717-20189T>C) c.2825T>C (p.Leu942Pro) c.2375T>C (p.Leu792Pro) c.1583T>C (p.Leu528Pro)
8	g.60842040T>G	CA371319682	CHD7	c.4838T>G (p.Leu1613Arg) c.1717-20189T>G (n.1717-20189T>G) c.2825T>G (p.Leu942Arg) c.2375T>G (p.Leu792Arg) c.1583T>G (p.Leu528Arg)
8	g.60842041G>A	CA460848250	CHD7	c.4839G>A (p.Leu1613=) c.1717-20188G>A (n.1717-20188G>A) c.2826G>A (p.Leu942=) c.2376G>A (p.Leu792=) c.1584G>A (p.Leu528=)
8	g.60842041G>C	CA460848251	CHD7	c.4839G>C (p.Leu1613=) c.1717-20188G>C (n.1717-20188G>C) c.2826G>C (p.Leu942=) c.2376G>C (p.Leu792=) c.1584G>C (p.Leu528=)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60842041G=	CA1788123287	CHD7	c.4839G= (p.Leu1613=) c.1717-20188G= (n.1717-20188G=) c.2826G= (p.Leu942=) c.2376G= (p.Leu792=) c.1584G= (p.Leu528=)
8	g.60842041G>T	CA460848252	CHD7	c.4839G>T (p.Leu1613=) c.1717-20188G>T (n.1717-20188G>T) c.2826G>T (p.Leu942=) c.2376G>T (p.Leu792=) c.1584G>T (p.Leu528=)
8	g.60842042C>A	CA371319684	CHD7	c.4840C>A (p.Leu1614Ile) c.1717-20187C>A (n.1717-20187C>A) c.2827C>A (p.Leu943Ile) c.2377C>A (p.Leu793Ile) c.1585C>A (p.Leu529Ile)
8	g.60842042C>G	CA371319685	CHD7	c.4840C>G (p.Leu1614Val) c.1717-20187C>G (n.1717-20187C>G) c.2827C>G (p.Leu943Val) c.2377C>G (p.Leu793Val) c.1585C>G (p.Leu529Val)
8	g.60842042C>T	CA371319687	CHD7	c.4840C>T (p.Leu1614Phe) c.1717-20187C>T (n.1717-20187C>T) c.2827C>T (p.Leu943Phe) c.2377C>T (p.Leu793Phe) c.1585C>T (p.Leu529Phe)
8	g.60842043T>A	CA371319689	CHD7	c.4841T>A (p.Leu1614His) c.1717-20186T>A (n.1717-20186T>A) c.2828T>A (p.Leu943His) c.2378T>A (p.Leu793His) c.1586T>A (p.Leu529His)
8	g.60842043T>C	CA371319690	CHD7	c.4841T>C (p.Leu1614Pro) c.1717-20186T>C (n.1717-20186T>C) c.2828T>C (p.Leu943Pro) c.2378T>C (p.Leu793Pro) c.1586T>C (p.Leu529Pro)
8	g.60842043T>G	CA371319688	CHD7	c.4841T>G (p.Leu1614Arg) c.1717-20186T>G (n.1717-20186T>G) c.2828T>G (p.Leu943Arg) c.2378T>G (p.Leu793Arg) c.1586T>G (p.Leu529Arg)
8	g.60842044dup	CA2573332549	CHD7	c.4842dup (p.Val1615CysfsTer17) c.1717-20185dup (n.1717-20185dup) c.2829dup (p.Val944CysfsTer17) c.2379dup (p.Val794CysfsTer17) c.1587dup (p.Val530CysfsTer17) c.4842dup (p.Val1615CysfsTer23)
8	g.60842044T>A	CA460848253	CHD7	c.4842T>A (p.Leu1614=) c.1717-20185T>A (n.1717-20185T>A) c.2829T>A (p.Leu943=) c.2379T>A (p.Leu793=) c.1587T>A (p.Leu529=)
8	g.60842044T>C	CA4760200	CHD7	c.4842T>C (p.Leu1614=) c.1717-20185T>C (n.1717-20185T>C) c.2829T>C (p.Leu943=) c.2379T>C (p.Leu793=) c.1587T>C (p.Leu529=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60842044T>G	CA460848254	CHD7	c.4842T>G (p.Leu1614=) c.1717-20185T>G (n.1717-20185T>G) c.2829T>G (p.Leu943=) c.2379T>G (p.Leu793=) c.1587T>G (p.Leu529=)
8	g.60842044T=	CA1788123289	CHD7	c.4842T= (p.Leu1614=) c.1717-20185T= (n.1717-20185T=) c.2829T= (p.Leu943=) c.2379T= (p.Leu793=) c.1587T= (p.Leu529=)
8	g.60842045G>A	CA371319692	CHD7	c.4843G>A (p.Val1615Ile) c.1717-20184G>A (n.1717-20184G>A) c.2830G>A (p.Val944Ile) c.2380G>A (p.Val794Ile) c.1588G>A (p.Val530Ile)
8	g.60842045G>C	CA371319693	CHD7	c.4843G>C (p.Val1615Leu) c.1717-20184G>C (n.1717-20184G>C) c.2830G>C (p.Val944Leu) c.2380G>C (p.Val794Leu) c.1588G>C (p.Val530Leu)
8	g.60842045G>T	CA371319694	CHD7	c.4843G>T (p.Val1615Phe) c.1717-20184G>T (n.1717-20184G>T) c.2830G>T (p.Val944Phe) c.2380G>T (p.Val794Phe) c.1588G>T (p.Val530Phe)
8	g.60842046T>A	CA371319697	CHD7	c.4844T>A (p.Val1615Asp) c.1717-20183T>A (n.1717-20183T>A) c.2831T>A (p.Val944Asp) c.2381T>A (p.Val794Asp) c.1589T>A (p.Val530Asp)	ClinVar
8	g.60842046T>C	CA371319698	CHD7	c.4844T>C (p.Val1615Ala) c.1717-20183T>C (n.1717-20183T>C) c.2831T>C (p.Val944Ala) c.2381T>C (p.Val794Ala) c.1589T>C (p.Val530Ala)
8	g.60842046T>G	CA371319699	CHD7	c.4844T>G (p.Val1615Gly) c.1717-20183T>G (n.1717-20183T>G) c.2831T>G (p.Val944Gly) c.2381T>G (p.Val794Gly) c.1589T>G (p.Val530Gly)
8	g.60842047C>A	CA460848256	CHD7	c.4845C>A (p.Val1615=) c.1717-20182C>A (n.1717-20182C>A) c.2832C>A (p.Val944=) c.2382C>A (p.Val794=) c.1590C>A (p.Val530=)
8	g.60842047C>G	CA460848257	CHD7	c.4845C>G (p.Val1615=) c.1717-20182C>G (n.1717-20182C>G) c.2832C>G (p.Val944=) c.2382C>G (p.Val794=) c.1590C>G (p.Val530=)
8	g.60842047C>T	CA460848255	CHD7	c.4845C>T (p.Val1615=) c.1717-20182C>T (n.1717-20182C>T) c.2832C>T (p.Val944=) c.2382C>T (p.Val794=) c.1590C>T (p.Val530=)	gnomAD v4
8	g.60842048T>A	CA371319701	CHD7	c.4846T>A (p.Tyr1616Asn) c.1717-20181T>A (n.1717-20181T>A) c.2833T>A (p.Tyr945Asn) c.2383T>A (p.Tyr795Asn) c.1591T>A (p.Tyr531Asn)	gnomAD v4
8	g.60842048T>C	CA371319702	CHD7	c.4846T>C (p.Tyr1616His) c.1717-20181T>C (n.1717-20181T>C) c.2833T>C (p.Tyr945His) c.2383T>C (p.Tyr795His) c.1591T>C (p.Tyr531His)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.60842048T>G	CA371319703	CHD7	c.4846T>G (p.Tyr1616Asp) c.1717-20181T>G (n.1717-20181T>G) c.2833T>G (p.Tyr945Asp) c.2383T>G (p.Tyr795Asp) c.1591T>G (p.Tyr531Asp)
8	g.60842048T=	CA1788123300	CHD7	c.4846T= (p.Tyr1616=) c.1717-20181T= (n.1717-20181T=) c.2833T= (p.Tyr945=) c.2383T= (p.Tyr795=) c.1591T= (p.Tyr531=)
8	g.60842048_60842049insTCCTTC	CA581980203	CHD7	c.4846_4847insTCCTTC (p.Tyr1616delinsPheLeuHis) c.1717-20181_1717-20180insTCCTTC (n.1717-20181_1717-20180insTCCTTC) c.2833_2834insTCCTTC (p.Tyr945delinsPheLeuHis) c.2383_2384insTCCTTC (p.Tyr795delinsPheLeuHis) c.1591_1592insTCCTTC (p.Tyr531delinsPheLeuHis)	dbSNP gnomAD v2
8	g.60842049A=	CA1788123308	CHD7	c.4847A= (p.Tyr1616=) c.1717-20180A= (n.1717-20180A=) c.2834A= (p.Tyr945=) c.2384A= (p.Tyr795=) c.1592A= (p.Tyr531=)
8	g.60842049A>C	CA371319705	CHD7	c.4847A>C (p.Tyr1616Ser) c.1717-20180A>C (n.1717-20180A>C) c.2834A>C (p.Tyr945Ser) c.2384A>C (p.Tyr795Ser) c.1592A>C (p.Tyr531Ser)
8	g.60842049A>G	CA177350049	CHD7	c.4847A>G (p.Tyr1616Cys) c.1717-20180A>G (n.1717-20180A>G) c.2834A>G (p.Tyr945Cys) c.2384A>G (p.Tyr795Cys) c.1592A>G (p.Tyr531Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.60842049A>T	CA371319707	CHD7	c.4847A>T (p.Tyr1616Phe) c.1717-20180A>T (n.1717-20180A>T) c.2834A>T (p.Tyr945Phe) c.2384A>T (p.Tyr795Phe) c.1592A>T (p.Tyr531Phe)
8	g.60842050T>A	CA371319709	CHD7	c.4848T>A (p.Tyr1616Ter) c.1717-20179T>A (n.1717-20179T>A) c.2835T>A (p.Tyr945Ter) c.2385T>A (p.Tyr795Ter) c.1593T>A (p.Tyr531Ter)
8	g.60842050T>C	CA460848258	CHD7	c.4848T>C (p.Tyr1616=) c.1717-20179T>C (n.1717-20179T>C) c.2835T>C (p.Tyr945=) c.2385T>C (p.Tyr795=) c.1593T>C (p.Tyr531=)
8	g.60842050T>G	CA371319710	CHD7	c.4848T>G (p.Tyr1616Ter) c.1717-20179T>G (n.1717-20179T>G) c.2835T>G (p.Tyr945Ter) c.2385T>G (p.Tyr795Ter) c.1593T>G (p.Tyr531Ter)

Number of alleles fetched