Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.8117792_8126946del	CA2573154518			ClinVar
17	g.8121527_8121536del	CA2635936393	HES7	c.35_44del (n.35_44del) c.728_737del (n.728_737del) n.69+1713_69+1722del	gnomAD v4
17	g.8121531_8121544delinsTACCCCACCCCTAG	CA2246159652	HES7	c.27_40delinsCTAGGGGTGGGGTA (n.27_40delinsCTAGGGGTGGGGTA) c.720_733delinsCTAGGGGTGGGGTA (n.720_733delinsCTAGGGGTGGGGTA) n.69+1717_69+1730delinsTACCCCACCCCTAG
17	g.8121537_8121549del	CA2246159659	HES7	c.27_39del (n.27_39del) c.720_732del (n.720_732del) n.69+1723_69+1735del	dbSNP
17	g.8121534C>A	CA2635936423	HES7	c.37G>T (n.37G>T) c.730G>T (n.730G>T) n.69+1720C>A	gnomAD v4
17	g.8121535C>A	CA2635936425	HES7	c.36G>T (n.36G>T) c.729G>T (n.729G>T) n.69+1721C>A	gnomAD v4
17	g.8121535C>T	CA2635936427	HES7	c.36G>A (n.36G>A) c.729G>A (n.729G>A) n.69+1721C>T	gnomAD v4
17	g.8121536C>A	CA2246159676	HES7	c.35G>T (n.35G>T) c.728G>T (n.728G>T) n.69+1722C>A	dbSNP gnomAD v4
17	g.8121536C=	CA2246159665	HES7	c.35G= (n.35G=) c.728G= (n.728G=) n.69+1722C=
17	g.8121536C>G	CA8368611	HES7	c.35G>C (n.35G>C) c.728G>C (n.728G>C) n.69+1722C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121536C>T	CA2246159669	HES7	c.35G>A (n.35G>A) c.728G>A (n.728G>A) n.69+1722C>T	dbSNP gnomAD v4
17	g.8121537A>C	CA2559088759	HES7	c.34T>G (n.34T>G) c.727T>G (n.727T>G) n.69+1723A>C
17	g.8121538C>T	CA2635936440	HES7	c.33G>A (n.33G>A) c.726G>A (n.726G>A) n.69+1724C>T	dbSNP gnomAD v4
17	g.8121541dup	CA2551064236	HES7	c.33dup (n.33dup) c.726dup (n.726dup) n.69+1727dup
17	g.8121539C>A	CA2635936445	HES7	c.32G>T (n.32G>T) c.725G>T (n.725G>T) n.69+1725C>A	gnomAD v4
17	g.8121539C=	CA2246159683	HES7	c.32G= (n.32G=) c.725G= (n.725G=) n.69+1725C=
17	g.8121539C>G	CA981238416	HES7	c.32G>C (n.32G>C) c.725G>C (n.725G>C) n.69+1725C>G	dbSNP gnomAD v3 gnomAD v4
17	g.8121539C>T	CA2246159688	HES7	c.32G>A (n.32G>A) c.725G>A (n.725G>A) n.69+1725C>T	dbSNP
17	g.8121540C>A	CA775622963	HES7	c.31G>T (n.31G>T) c.724G>T (n.724G>T) n.69+1726C>A	dbSNP gnomAD v3 gnomAD v4
17	g.8121540C=	CA2246159691	HES7	c.31G= (n.31G=) c.724G= (n.724G=) n.69+1726C=
17	g.8121540C>G	CA2576161665	HES7	c.31G>C (n.31G>C) c.724G>C (n.724G>C) n.69+1726C>G	gnomAD v4
17	g.8121540C>T	CA2635936458	HES7	c.31G>A (n.31G>A) c.724G>A (n.724G>A) n.69+1726C>T	gnomAD v4
17	g.8121541C>A	CA2635936463	HES7	c.30G>T (n.30G>T) c.723G>T (n.723G>T) n.69+1727C>A	gnomAD v4
17	g.8121541C=	CA2246159695	HES7	c.30G= (n.30G=) c.723G= (n.723G=) n.69+1727C=
17	g.8121541C>T	CA287536834	HES7	c.30G>A (n.30G>A) c.723G>A (n.723G>A) n.69+1727C>T	dbSNP gnomAD v4
17	g.8121541_8121542delinsCT	CA2246159700	HES7	c.29_30delinsAG (n.29_30delinsAG) c.722_723delinsAG (n.722_723delinsAG) n.69+1727_69+1728delinsCT
17	g.8121542del	CA981238417	HES7	c.29del (n.29del) c.722del (n.722del) n.69+1728del	dbSNP gnomAD v3 gnomAD v4
17	g.8121542T>C	CA2511344780	HES7	c.29A>G (n.29A>G) c.722A>G (n.722A>G) n.69+1728T>C	gnomAD v4
17	g.8121543del	CA2590217291	HES7	c.28del (n.28del) c.721del (n.721del) n.69+1729del	dbSNP gnomAD v3 gnomAD v4
17	g.8121543A>G	CA2635936471	HES7	c.28T>C (n.28T>C) c.721T>C (n.721T>C) n.69+1729A>G	gnomAD v4
17	g.8121545A>C	CA2503925677	HES7	c.26T>G (n.26T>G) c.719T>G (n.719T>G) n.69+1731A>C
17	g.8121545A>T	CA2635936473	HES7	c.26T>A (n.26T>A) c.719T>A (n.719T>A) n.69+1731A>T	gnomAD v4
17	g.8121546C>A	CA775622974	HES7	c.25G>T (n.25G>T) c.718G>T (n.718G>T) n.69+1732C>A	dbSNP gnomAD v4
17	g.8121546C=	CA2246159705	HES7	c.25G= (n.25G=) c.718G= (n.718G=) n.69+1732C=
17	g.8121546C>T	CA2635936477	HES7	c.25G>A (n.25G>A) c.718G>A (n.718G>A) n.69+1732C>T	gnomAD v4
17	g.8121547C>A	CA2635936479	HES7	c.24G>T (n.24G>T) c.717G>T (n.717G>T) n.69+1733C>A	gnomAD v4
17	g.8121547C>T	CA2635936480	HES7	c.24G>A (n.24G>A) c.717G>A (n.717G>A) n.69+1733C>T	gnomAD v4
17	g.8121548C>A	CA2635936482	HES7	c.23G>T (n.23G>T) c.716G>T (n.716G>T) n.69+1734C>A	gnomAD v4
17	g.8121548C=	CA2246159709	HES7	c.23G= (n.23G=) c.716G= (n.716G=) n.69+1734C=
17	g.8121548C>G	CA2808397530	HES7	c.23G>C (n.23G>C) c.716G>C (n.716G>C) n.69+1734C>G
17	g.8121548C>T	CA2246159708	HES7	c.23G>A (n.23G>A) c.716G>A (n.716G>A) n.69+1734C>T	dbSNP gnomAD v4
17	g.8121549C>A	CA624724224	HES7	c.22G>T (n.22G>T) c.715G>T (n.715G>T) n.69+1735C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121549C=	CA2246159711	HES7	c.22G= (n.22G=) c.715G= (n.715G=) n.69+1735C=
17	g.8121549C>T	CA2635936484	HES7	c.22G>A (n.22G>A) c.715G>A (n.715G>A) n.69+1735C>T	gnomAD v4
17	g.8121550G>A	CA981238419	HES7	c.21C>T (n.21C>T) c.714C>T (n.714C>T) n.69+1736G>A	dbSNP gnomAD v3 gnomAD v4
17	g.8121550G>C	CA2635936489	HES7	c.21C>G (n.21C>G) c.714C>G (n.714C>G) n.69+1736G>C	gnomAD v4
17	g.8121550G=	CA2246159715	HES7	c.21C= (n.21C=) c.714C= (n.714C=) n.69+1736G=
17	g.8121550G>T	CA2635936488	HES7	c.21C>A (n.21C>A) c.714C>A (n.714C>A) n.69+1736G>T	gnomAD v4
17	g.8121550_8121551delinsGC	CA2246159714	HES7	c.20_21delinsGC (n.20_21delinsGC) c.713_714delinsGC (n.713_714delinsGC) n.69+1736_69+1737delinsGC
17	g.8121551C>A	CA287536836	HES7	c.20G>T (n.20G>T) c.713G>T (n.713G>T) n.69+1737C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121551C=	CA2246159721	HES7	c.20G= (n.20G=) c.713G= (n.713G=) n.69+1737C=
17	g.8121551C>T	CA775622980	HES7	c.20G>A (n.20G>A) c.713G>A (n.713G>A) n.69+1737C>T	dbSNP gnomAD v3 gnomAD v4
17	g.8121555del	CA624724225	HES7	c.20del (n.20del) c.713del (n.713del) n.69+1741del	dbSNP gnomAD v2 gnomAD v4
17	g.8121553C=	CA2246159724	HES7	c.18G= (n.18G=) c.711G= (n.711G=) n.69+1739C=
17	g.8121553C>T	CA775622985	HES7	c.18G>A (n.18G>A) c.711G>A (n.711G>A) n.69+1739C>T	dbSNP gnomAD v3 gnomAD v4
17	g.8121554C>G	CA2635936495	HES7	c.17G>C (n.17G>C) c.710G>C (n.710G>C) n.69+1740C>G	gnomAD v4
17	g.8121554C>T	CA2635936496	HES7	c.17G>A (n.17G>A) c.710G>A (n.710G>A) n.69+1740C>T	gnomAD v4
17	g.8121555C>A	CA2808397531	HES7	c.16G>T (n.16G>T) c.709G>T (n.709G>T) n.69+1741C>A
17	g.8121555C>T	CA2635936499	HES7	c.16G>A (n.16G>A) c.709G>A (n.709G>A) n.69+1741C>T	gnomAD v4
17	g.8121556A=	CA2246159727	HES7	c.15T= (n.15T=) c.708T= (n.708T=) n.69+1742A=
17	g.8121556A>C	CA2246159728	HES7	c.15T>G (n.15T>G) c.708T>G (n.708T>G) n.69+1742A>C	dbSNP gnomAD v4
17	g.8121557C>A	CA2635936509	HES7	c.14G>T (n.14G>T) c.707G>T (n.707G>T) n.69+1743C>A	gnomAD v4
17	g.8121557C>G	CA2635936510	HES7	c.14G>C (n.14G>C) c.707G>C (n.707G>C) n.69+1743C>G	gnomAD v4
17	g.8121557C>T	CA2576161666	HES7	c.14G>A (n.14G>A) c.707G>A (n.707G>A) n.69+1743C>T	gnomAD v4
17	g.8121558dup	CA624724227	HES7	c.14dup (n.14dup) c.707dup (n.707dup) n.69+1744dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121557_8121558dup	CA2511739718	HES7	c.13_14dup (n.13_14dup) c.706_707dup (n.706_707dup) n.69+1743_69+1744dup
17	g.8121558C>A	CA2635936523	HES7	c.13G>T (n.13G>T) c.706G>T (n.706G>T) n.69+1744C>A	gnomAD v4
17	g.8121558C>G	CA2635936521	HES7	c.13G>C (n.13G>C) c.706G>C (n.706G>C) n.69+1744C>G	gnomAD v4
17	g.8121558C>T	CA2635936519	HES7	c.13G>A (n.13G>A) c.706G>A (n.706G>A) n.69+1744C>T	gnomAD v4
17	g.8121558_8121559delinsCA	CA2246159731	HES7	c.12_13delinsTG (n.12_13delinsTG) c.705_706delinsTG (n.705_706delinsTG) n.69+1744_69+1745delinsCA
17	g.8121559del	CA2246159738	HES7	c.12del (n.12del) c.705del (n.705del) n.69+1745del	dbSNP gnomAD v4
17	g.8121559A=	CA2246159736	HES7	c.12T= (n.12T=) c.705T= (n.705T=) n.69+1745A=
17	g.8121559A>C	CA8368612	HES7	c.12T>G (n.12T>G) c.705T>G (n.705T>G) n.69+1745A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121559A>G	CA2246159743	HES7	c.12T>C (n.12T>C) c.705T>C (n.705T>C) n.69+1745A>G	dbSNP
17	g.8121559A>T	CA2576161667	HES7	c.12T>A (n.12T>A) c.705T>A (n.705T>A) n.69+1745A>T
17	g.8121560C>A	CA287536860	HES7	c.11G>T (n.11G>T) c.704G>T (n.704G>T) n.69+1746C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121560C=	CA2246159753	HES7	c.11G= (n.11G=) c.704G= (n.704G=) n.69+1746C=
17	g.8121560C>T	CA8368613	HES7	c.11G>A (n.11G>A) c.704G>A (n.704G>A) n.69+1746C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121565dup	CA2635936531	HES7	c.11dup (n.11dup) c.704dup (n.704dup) n.69+1751dup	gnomAD v4
17	g.8121563_8121565dup	CA775622990	HES7	c.9_11dup (n.9_11dup) c.702_704dup (n.702_704dup) n.69+1749_69+1751dup	dbSNP
17	g.8121565del	CA624724228	HES7	c.11del (n.11del) c.704del (n.704del) n.69+1751del	gnomAD v2 gnomAD v4
17	g.8121561C=	CA2246159759	HES7	c.10G= (n.10G=) c.703G= (n.703G=) n.69+1747C=
17	g.8121561C>T	CA287536887	HES7	c.10G>A (n.10G>A) c.703G>A (n.703G>A) n.69+1747C>T	dbSNP gnomAD v3 gnomAD v4
17	g.8121562C>A	CA2635936554	HES7	c.9G>T (n.9G>T) c.702G>T (n.702G>T) n.69+1748C>A	gnomAD v4
17	g.8121562C>T	CA2635936559	HES7	c.9G>A (n.9G>A) c.702G>A (n.702G>A) n.69+1748C>T	gnomAD v4
17	g.8121563C>A	CA287536894	HES7	c.8G>T (n.8G>T) c.701G>T (n.701G>T) n.69+1749C>A	dbSNP gnomAD v3 gnomAD v4
17	g.8121563C=	CA2246159760	HES7	c.8G= (n.8G=) c.701G= (n.701G=) n.69+1749C=
17	g.8121563C>T	CA2635936565	HES7	c.8G>A (n.8G>A) c.701G>A (n.701G>A) n.69+1749C>T	gnomAD v4
17	g.8121564C>A	CA2635936567	HES7	c.7G>T (n.7G>T) c.700G>T (n.700G>T) n.69+1750C>A	gnomAD v4
17	g.8121564C>G	CA2635936568	HES7	c.7G>C (n.7G>C) c.700G>C (n.700G>C) n.69+1750C>G	gnomAD v4
17	g.8121564C>T	CA2499889507	HES7	c.7G>A (n.7G>A) c.700G>A (n.700G>A) n.69+1750C>T
17	g.8121565C>A	CA2635936571	HES7	c.6G>T (n.6G>T) c.699G>T (n.699G>T) n.69+1751C>A	gnomAD v4
17	g.8121565C=	CA2246159762	HES7	c.6G= (n.6G=) c.699G= (n.699G=) n.69+1751C=
17	g.8121565C>G	CA2246159764	HES7	c.6G>C (n.6G>C) c.699G>C (n.699G>C) n.69+1751C>G	dbSNP gnomAD v4
17	g.8121566A>C	CA2635936574	HES7	c.5T>G (n.5T>G) c.698T>G (n.698T>G) n.69+1752A>C	gnomAD v4
17	g.8121566A>G	CA2635936576	HES7	c.5T>C (n.5T>C) c.698T>C (n.698T>C) n.69+1752A>G	gnomAD v4
17	g.8121567A>G	CA2635936578	HES7	c.4T>C (n.4T>C) c.697T>C (n.697T>C) n.69+1753A>G	gnomAD v4
17	g.8121568G>A	CA2572099802	HES7	c.3C>T (n.3C>T) c.696C>T (n.696C>T) n.69+1754G>A	gnomAD v4
17	g.8121569G>A	CA2635936581	HES7	c.2C>T (n.2C>T) c.695C>T (n.695C>T) n.69+1755G>A	gnomAD v4
17	g.8121569G>C	CA2635936582	HES7	c.2C>G (n.2C>G) c.695C>G (n.695C>G) n.69+1755G>C	gnomAD v4
17	g.8121569G>T	CA2635936583	HES7	c.2C>A (n.2C>A) c.695C>A (n.695C>A) n.69+1755G>T	gnomAD v4
17	g.8121570C>A	CA2635936585	HES7	c.1G>T (n.1G>T) c.694G>T (n.694G>T) n.69+1756C>A	gnomAD v4
17	g.8121570C=	CA2246159767	HES7	c.1G= (n.1G=) c.694G= (n.694G=) n.69+1756C=
17	g.8121570C>T	CA2246159768	HES7	c.1G>A (n.1G>A) c.694G>A (n.694G>A) n.69+1756C>T	dbSNP
17	g.8121571T>A	CA397986790	HES7	c.693A>T (p.Ter231Cys) c.678A>T (p.Ter226Cys) c.798A>T (p.Ter266Cys) c.789A>T (p.Ter263Cys) c.780A>T (p.Ter260Cys) c.651A>T (p.Ter217Cys) n.69+1757T>A	gnomAD v4
17	g.8121571T>C	CA397986793	HES7	c.693A>G (p.Ter231Trp) c.678A>G (p.Ter226Trp) c.798A>G (p.Ter266Trp) c.789A>G (p.Ter263Trp) c.780A>G (p.Ter260Trp) c.651A>G (p.Ter217Trp) n.69+1757T>C	gnomAD v4
17	g.8121571T>G	CA397986776	HES7	c.693A>C (p.Ter231Cys) c.678A>C (p.Ter226Cys) c.798A>C (p.Ter266Cys) c.789A>C (p.Ter263Cys) c.780A>C (p.Ter260Cys) c.651A>C (p.Ter217Cys) n.69+1757T>G	gnomAD v4
17	g.8121572C>A	CA397986796	HES7	c.692G>T (p.Ter231Leu) c.677G>T (p.Ter226Leu) c.797G>T (p.Ter266Leu) c.788G>T (p.Ter263Leu) c.779G>T (p.Ter260Leu) c.650G>T (p.Ter217Leu) n.69+1758C>A	gnomAD v4
17	g.8121572C>G	CA397986799	HES7	c.692G>C (p.Ter231Ser) c.677G>C (p.Ter226Ser) c.797G>C (p.Ter266Ser) c.788G>C (p.Ter263Ser) c.779G>C (p.Ter260Ser) c.650G>C (p.Ter217Ser) n.69+1758C>G	gnomAD v4
17	g.8121572C>T	CA497760775	HES7	c.692G>A (p.Ter231=) c.677G>A (p.Ter226=) c.797G>A (p.Ter266=) c.788G>A (p.Ter263=) c.779G>A (p.Ter260=) c.650G>A (p.Ter217=) n.69+1758C>T	gnomAD v4
17	g.8121573A>C	CA397986801	HES7	c.691T>G (p.Ter231Gly) c.676T>G (p.Ter226Gly) c.796T>G (p.Ter266Gly) c.787T>G (p.Ter263Gly) c.778T>G (p.Ter260Gly) c.649T>G (p.Ter217Gly) n.69+1759A>C	gnomAD v4
17	g.8121573A>G	CA397986803	HES7	c.691T>C (p.Ter231Arg) c.676T>C (p.Ter226Arg) c.796T>C (p.Ter266Arg) c.787T>C (p.Ter263Arg) c.778T>C (p.Ter260Arg) c.649T>C (p.Ter217Arg) n.69+1759A>G	gnomAD v4
17	g.8121573A>T	CA397986804	HES7	c.691T>A (p.Ter231Arg) c.676T>A (p.Ter226Arg) c.796T>A (p.Ter266Arg) c.787T>A (p.Ter263Arg) c.778T>A (p.Ter260Arg) c.649T>A (p.Ter217Arg) n.69+1759A>T
17	g.8121574G>A	CA497760776	HES7	c.690C>T (p.Pro230=) c.675C>T (p.Pro225=) c.795C>T (p.Pro265=) c.786C>T (p.Pro262=) c.777C>T (p.Pro259=) c.648C>T (p.Pro216=) n.69+1760G>A	gnomAD v4
17	g.8121574G>C	CA497760777	HES7	c.690C>G (p.Pro230=) c.675C>G (p.Pro225=) c.795C>G (p.Pro265=) c.786C>G (p.Pro262=) c.777C>G (p.Pro259=) c.648C>G (p.Pro216=) n.69+1760G>C
17	g.8121574G>T	CA497760778	HES7	c.690C>A (p.Pro230=) c.675C>A (p.Pro225=) c.795C>A (p.Pro265=) c.786C>A (p.Pro262=) c.777C>A (p.Pro259=) c.648C>A (p.Pro216=) n.69+1760G>T	gnomAD v4
17	g.8121575G>A	CA397986813	HES7	c.689C>T (p.Pro230Leu) c.674C>T (p.Pro225Leu) c.794C>T (p.Pro265Leu) c.785C>T (p.Pro262Leu) c.776C>T (p.Pro259Leu) c.647C>T (p.Pro216Leu) n.69+1761G>A	dbSNP gnomAD v2 gnomAD v4
17	g.8121575G>C	CA397986811	HES7	c.689C>G (p.Pro230Arg) c.674C>G (p.Pro225Arg) c.794C>G (p.Pro265Arg) c.785C>G (p.Pro262Arg) c.776C>G (p.Pro259Arg) c.647C>G (p.Pro216Arg) n.69+1761G>C	dbSNP
17	g.8121575G=	CA2246159771	HES7	c.689C= (p.Pro230=) c.674C= (p.Pro225=) c.794C= (p.Pro265=) c.785C= (p.Pro262=) c.776C= (p.Pro259=) c.647C= (p.Pro216=) n.69+1761G=
17	g.8121575G>T	CA397986808	HES7	c.689C>A (p.Pro230His) c.674C>A (p.Pro225His) c.794C>A (p.Pro265His) c.785C>A (p.Pro262His) c.776C>A (p.Pro259His) c.647C>A (p.Pro216His) n.69+1761G>T
17	g.8121576G>A	CA397986817	HES7	c.688C>T (p.Pro230Ser) c.673C>T (p.Pro225Ser) c.793C>T (p.Pro265Ser) c.784C>T (p.Pro262Ser) c.775C>T (p.Pro259Ser) c.646C>T (p.Pro216Ser) n.69+1762G>A	gnomAD v4
17	g.8121576G>C	CA397986819	HES7	c.688C>G (p.Pro230Ala) c.673C>G (p.Pro225Ala) c.793C>G (p.Pro265Ala) c.784C>G (p.Pro262Ala) c.775C>G (p.Pro259Ala) c.646C>G (p.Pro216Ala) n.69+1762G>C
17	g.8121576G>T	CA397986822	HES7	c.688C>A (p.Pro230Thr) c.673C>A (p.Pro225Thr) c.793C>A (p.Pro265Thr) c.784C>A (p.Pro262Thr) c.775C>A (p.Pro259Thr) c.646C>A (p.Pro216Thr) n.69+1762G>T	gnomAD v4
17	g.8121577C>A	CA397986824	HES7	c.687G>T (p.Trp229Cys) c.672G>T (p.Trp224Cys) c.792G>T (p.Trp264Cys) c.783G>T (p.Trp261Cys) c.774G>T (p.Trp258Cys) c.645G>T (p.Trp215Cys) n.69+1763C>A	gnomAD v4
17	g.8121577C=	CA2246159774	HES7	c.687G= (p.Trp229=) c.672G= (p.Trp224=) c.792G= (p.Trp264=) c.783G= (p.Trp261=) c.774G= (p.Trp258=) c.645G= (p.Trp215=) n.69+1763C=
17	g.8121577C>G	CA397986826	HES7	c.687G>C (p.Trp229Cys) c.672G>C (p.Trp224Cys) c.792G>C (p.Trp264Cys) c.783G>C (p.Trp261Cys) c.774G>C (p.Trp258Cys) c.645G>C (p.Trp215Cys) n.69+1763C>G	gnomAD v4
17	g.8121577C>T	CA287536904	HES7	c.687G>A (p.Trp229Ter) c.672G>A (p.Trp224Ter) c.792G>A (p.Trp264Ter) c.783G>A (p.Trp261Ter) c.774G>A (p.Trp258Ter) c.645G>A (p.Trp215Ter) n.69+1763C>T	dbSNP gnomAD v3 gnomAD v4
17	g.8121578C>A	CA397986832	HES7	c.686G>T (p.Trp229Leu) c.671G>T (p.Trp224Leu) c.791G>T (p.Trp264Leu) c.782G>T (p.Trp261Leu) c.773G>T (p.Trp258Leu) c.644G>T (p.Trp215Leu) n.69+1764C>A	gnomAD v4
17	g.8121578C>G	CA397986837	HES7	c.686G>C (p.Trp229Ser) c.671G>C (p.Trp224Ser) c.791G>C (p.Trp264Ser) c.782G>C (p.Trp261Ser) c.773G>C (p.Trp258Ser) c.644G>C (p.Trp215Ser) n.69+1764C>G	gnomAD v4
17	g.8121578C>T	CA397986834	HES7	c.686G>A (p.Trp229Ter) c.671G>A (p.Trp224Ter) c.791G>A (p.Trp264Ter) c.782G>A (p.Trp261Ter) c.773G>A (p.Trp258Ter) c.644G>A (p.Trp215Ter) n.69+1764C>T	gnomAD v4
17	g.8121579A>C	CA397986843	HES7	c.685T>G (p.Trp229Gly) c.670T>G (p.Trp224Gly) c.790T>G (p.Trp264Gly) c.781T>G (p.Trp261Gly) c.772T>G (p.Trp258Gly) c.643T>G (p.Trp215Gly) n.69+1765A>C	gnomAD v4
17	g.8121579A>G	CA397986846	HES7	c.685T>C (p.Trp229Arg) c.670T>C (p.Trp224Arg) c.790T>C (p.Trp264Arg) c.781T>C (p.Trp261Arg) c.772T>C (p.Trp258Arg) c.643T>C (p.Trp215Arg) n.69+1765A>G	gnomAD v4
17	g.8121579A>T	CA397986852	HES7	c.685T>A (p.Trp229Arg) c.670T>A (p.Trp224Arg) c.790T>A (p.Trp264Arg) c.781T>A (p.Trp261Arg) c.772T>A (p.Trp258Arg) c.643T>A (p.Trp215Arg) n.69+1765A>T
17	g.8121580A>C	CA497760779	HES7	c.684T>G (p.Pro228=) c.669T>G (p.Pro223=) c.789T>G (p.Pro263=) c.780T>G (p.Pro260=) c.771T>G (p.Pro257=) c.642T>G (p.Pro214=) n.69+1766A>C	gnomAD v4
17	g.8121580A>G	CA497760781	HES7	c.684T>C (p.Pro228=) c.669T>C (p.Pro223=) c.789T>C (p.Pro263=) c.780T>C (p.Pro260=) c.771T>C (p.Pro257=) c.642T>C (p.Pro214=) n.69+1766A>G	gnomAD v4
17	g.8121580A>T	CA497760780	HES7	c.684T>A (p.Pro228=) c.669T>A (p.Pro223=) c.789T>A (p.Pro263=) c.780T>A (p.Pro260=) c.771T>A (p.Pro257=) c.642T>A (p.Pro214=) n.69+1766A>T	gnomAD v4
17	g.8121581G>A	CA397986856	HES7	c.683C>T (p.Pro228Leu) c.668C>T (p.Pro223Leu) c.788C>T (p.Pro263Leu) c.779C>T (p.Pro260Leu) c.770C>T (p.Pro257Leu) c.641C>T (p.Pro214Leu) n.69+1767G>A
17	g.8121581G>C	CA397986859	HES7	c.683C>G (p.Pro228Arg) c.668C>G (p.Pro223Arg) c.788C>G (p.Pro263Arg) c.779C>G (p.Pro260Arg) c.770C>G (p.Pro257Arg) c.641C>G (p.Pro214Arg) n.69+1767G>C
17	g.8121581G>T	CA397986861	HES7	c.683C>A (p.Pro228His) c.668C>A (p.Pro223His) c.788C>A (p.Pro263His) c.779C>A (p.Pro260His) c.770C>A (p.Pro257His) c.641C>A (p.Pro214His) n.69+1767G>T	gnomAD v4
17	g.8121582G>A	CA287536918	HES7	c.682C>T (p.Pro228Ser) c.667C>T (p.Pro223Ser) c.787C>T (p.Pro263Ser) c.778C>T (p.Pro260Ser) c.769C>T (p.Pro257Ser) c.640C>T (p.Pro214Ser) n.69+1768G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8121582G>C	CA397986865	HES7	c.682C>G (p.Pro228Ala) c.667C>G (p.Pro223Ala) c.787C>G (p.Pro263Ala) c.778C>G (p.Pro260Ala) c.769C>G (p.Pro257Ala) c.640C>G (p.Pro214Ala) n.69+1768G>C	ClinVar dbSNP gnomAD v4
17	g.8121582G=	CA2246159782	HES7	c.682C= (p.Pro228=) c.667C= (p.Pro223=) c.787C= (p.Pro263=) c.778C= (p.Pro260=) c.769C= (p.Pro257=) c.640C= (p.Pro214=) n.69+1768G=
17	g.8121582G>T	CA397986868	HES7	c.682C>A (p.Pro228Thr) c.667C>A (p.Pro223Thr) c.787C>A (p.Pro263Thr) c.778C>A (p.Pro260Thr) c.769C>A (p.Pro257Thr) c.640C>A (p.Pro214Thr) n.69+1768G>T	gnomAD v4
17	g.8121583T>A	CA397986872	HES7	c.681A>T (p.Arg227Ser) c.666A>T (p.Arg222Ser) c.786A>T (p.Arg262Ser) c.777A>T (p.Arg259Ser) c.768A>T (p.Arg256Ser) c.639A>T (p.Arg213Ser) n.69+1769T>A	ClinVar dbSNP gnomAD v4
17	g.8121583T>C	CA497760782	HES7	c.681A>G (p.Arg227=) c.666A>G (p.Arg222=) c.786A>G (p.Arg262=) c.777A>G (p.Arg259=) c.768A>G (p.Arg256=) c.639A>G (p.Arg213=) n.69+1769T>C	gnomAD v4
17	g.8121583T>G	CA287536929	HES7	c.681A>C (p.Arg227Ser) c.666A>C (p.Arg222Ser) c.786A>C (p.Arg262Ser) c.777A>C (p.Arg259Ser) c.768A>C (p.Arg256Ser) c.639A>C (p.Arg213Ser) n.69+1769T>G	dbSNP gnomAD v3 gnomAD v4
17	g.8121583T=	CA2246159795	HES7	c.681A= (p.Arg227=) c.666A= (p.Arg222=) c.786A= (p.Arg262=) c.777A= (p.Arg259=) c.768A= (p.Arg256=) c.639A= (p.Arg213=) n.69+1769T=
17	g.8121584C>A	CA397986880	HES7	c.680G>T (p.Arg227Ile) c.665G>T (p.Arg222Ile) c.785G>T (p.Arg262Ile) c.776G>T (p.Arg259Ile) c.767G>T (p.Arg256Ile) c.638G>T (p.Arg213Ile) n.69+1770C>A	gnomAD v4
17	g.8121584C>G	CA397986878	HES7	c.680G>C (p.Arg227Thr) c.665G>C (p.Arg222Thr) c.785G>C (p.Arg262Thr) c.776G>C (p.Arg259Thr) c.767G>C (p.Arg256Thr) c.638G>C (p.Arg213Thr) n.69+1770C>G
17	g.8121584C>T	CA397986875	HES7	c.680G>A (p.Arg227Lys) c.665G>A (p.Arg222Lys) c.785G>A (p.Arg262Lys) c.776G>A (p.Arg259Lys) c.767G>A (p.Arg256Lys) c.638G>A (p.Arg213Lys) n.69+1770C>T	gnomAD v4
17	g.8121585T>A	CA397986882	HES7	c.679A>T (p.Arg227Ter) c.664A>T (p.Arg222Ter) c.784A>T (p.Arg262Ter) c.775A>T (p.Arg259Ter) c.766A>T (p.Arg256Ter) c.637A>T (p.Arg213Ter) n.69+1771T>A
17	g.8121585T>C	CA397986885	HES7	c.679A>G (p.Arg227Gly) c.664A>G (p.Arg222Gly) c.784A>G (p.Arg262Gly) c.775A>G (p.Arg259Gly) c.766A>G (p.Arg256Gly) c.637A>G (p.Arg213Gly) n.69+1771T>C	gnomAD v4
17	g.8121585T>G	CA497760783	HES7	c.679A>C (p.Arg227=) c.664A>C (p.Arg222=) c.784A>C (p.Arg262=) c.775A>C (p.Arg259=) c.766A>C (p.Arg256=) c.637A>C (p.Arg213=) n.69+1771T>G
17	g.8121586C>A	CA397986887	HES7	c.678G>T (p.Trp226Cys) c.663G>T (p.Trp221Cys) c.783G>T (p.Trp261Cys) c.774G>T (p.Trp258Cys) c.765G>T (p.Trp255Cys) c.636G>T (p.Trp212Cys) n.69+1772C>A	gnomAD v4
17	g.8121586C>G	CA397986891	HES7	c.678G>C (p.Trp226Cys) c.663G>C (p.Trp221Cys) c.783G>C (p.Trp261Cys) c.774G>C (p.Trp258Cys) c.765G>C (p.Trp255Cys) c.636G>C (p.Trp212Cys) n.69+1772C>G
17	g.8121586C>T	CA397986890	HES7	c.678G>A (p.Trp226Ter) c.663G>A (p.Trp221Ter) c.783G>A (p.Trp261Ter) c.774G>A (p.Trp258Ter) c.765G>A (p.Trp255Ter) c.636G>A (p.Trp212Ter) n.69+1772C>T	gnomAD v4
17	g.8121587del	CA2635936626	HES7	c.678del (p.Trp226Ter) c.663del (p.Trp221Ter) c.783del (p.Trp261Ter) c.774del (p.Trp258Ter) c.765del (p.Trp255Ter) c.636del (p.Trp212Ter) n.69+1773del	gnomAD v4
17	g.8121587C>A	CA397986895	HES7	c.677G>T (p.Trp226Leu) c.662G>T (p.Trp221Leu) c.782G>T (p.Trp261Leu) c.773G>T (p.Trp258Leu) c.764G>T (p.Trp255Leu) c.635G>T (p.Trp212Leu) n.69+1773C>A	gnomAD v4
17	g.8121587C>G	CA397986899	HES7	c.677G>C (p.Trp226Ser) c.662G>C (p.Trp221Ser) c.782G>C (p.Trp261Ser) c.773G>C (p.Trp258Ser) c.764G>C (p.Trp255Ser) c.635G>C (p.Trp212Ser) n.69+1773C>G
17	g.8121587C>T	CA397986896	HES7	c.677G>A (p.Trp226Ter) c.662G>A (p.Trp221Ter) c.782G>A (p.Trp261Ter) c.773G>A (p.Trp258Ter) c.764G>A (p.Trp255Ter) c.635G>A (p.Trp212Ter) n.69+1773C>T	gnomAD v4
17	g.8121588A>C	CA397986902	HES7	c.676T>G (p.Trp226Gly) c.661T>G (p.Trp221Gly) c.781T>G (p.Trp261Gly) c.772T>G (p.Trp258Gly) c.763T>G (p.Trp255Gly) c.634T>G (p.Trp212Gly) n.69+1774A>C
17	g.8121588A>G	CA397986903	HES7	c.676T>C (p.Trp226Arg) c.661T>C (p.Trp221Arg) c.781T>C (p.Trp261Arg) c.772T>C (p.Trp258Arg) c.763T>C (p.Trp255Arg) c.634T>C (p.Trp212Arg) n.69+1774A>G	gnomAD v4
17	g.8121588A>T	CA397986906	HES7	c.676T>A (p.Trp226Arg) c.661T>A (p.Trp221Arg) c.781T>A (p.Trp261Arg) c.772T>A (p.Trp258Arg) c.763T>A (p.Trp255Arg) c.634T>A (p.Trp212Arg) n.69+1774A>T
17	g.8121589del	CA2635936634	HES7	c.675del (p.Trp226GlyfsTer?) c.660del (p.Trp221GlyfsTer?) c.780del (p.Trp261GlyfsTer?) c.771del (p.Trp258GlyfsTer?) c.762del (p.Trp255GlyfsTer?) c.633del (p.Trp212GlyfsTer?) n.69+1775del	gnomAD v4
17	g.8121589G>A	CA287536948	HES7	c.675C>T (p.Phe225=) c.660C>T (p.Phe220=) c.780C>T (p.Phe260=) c.771C>T (p.Phe257=) c.762C>T (p.Phe254=) c.633C>T (p.Phe211=) n.69+1775G>A	dbSNP gnomAD v4
17	g.8121589G>C	CA397986909	HES7	c.675C>G (p.Phe225Leu) c.660C>G (p.Phe220Leu) c.780C>G (p.Phe260Leu) c.771C>G (p.Phe257Leu) c.762C>G (p.Phe254Leu) c.633C>G (p.Phe211Leu) n.69+1775G>C	gnomAD v4
17	g.8121589G=	CA2246159797	HES7	c.675C= (p.Phe225=) c.660C= (p.Phe220=) c.780C= (p.Phe260=) c.771C= (p.Phe257=) c.762C= (p.Phe254=) c.633C= (p.Phe211=) n.69+1775G=
17	g.8121589G>T	CA397986911	HES7	c.675C>A (p.Phe225Leu) c.660C>A (p.Phe220Leu) c.780C>A (p.Phe260Leu) c.771C>A (p.Phe257Leu) c.762C>A (p.Phe254Leu) c.633C>A (p.Phe211Leu) n.69+1775G>T
17	g.8121590A>C	CA397986915	HES7	c.674T>G (p.Phe225Cys) c.659T>G (p.Phe220Cys) c.779T>G (p.Phe260Cys) c.770T>G (p.Phe257Cys) c.761T>G (p.Phe254Cys) c.632T>G (p.Phe211Cys) n.69+1776A>C
17	g.8121590A>G	CA397986918	HES7	c.674T>C (p.Phe225Ser) c.659T>C (p.Phe220Ser) c.779T>C (p.Phe260Ser) c.770T>C (p.Phe257Ser) c.761T>C (p.Phe254Ser) c.632T>C (p.Phe211Ser) n.69+1776A>G	gnomAD v4
17	g.8121590A>T	CA397986919	HES7	c.674T>A (p.Phe225Tyr) c.659T>A (p.Phe220Tyr) c.779T>A (p.Phe260Tyr) c.770T>A (p.Phe257Tyr) c.761T>A (p.Phe254Tyr) c.632T>A (p.Phe211Tyr) n.69+1776A>T
17	g.8121592del	CA2635936638	HES7	c.674del (p.Phe225SerfsTer?) c.659del (p.Phe220SerfsTer?) c.779del (p.Phe260SerfsTer?) c.770del (p.Phe257SerfsTer?) c.761del (p.Phe254SerfsTer?) c.632del (p.Phe211SerfsTer?) n.69+1778del	gnomAD v4
17	g.8121591A>C	CA397986923	HES7	c.673T>G (p.Phe225Val) c.658T>G (p.Phe220Val) c.778T>G (p.Phe260Val) c.769T>G (p.Phe257Val) c.760T>G (p.Phe254Val) c.631T>G (p.Phe211Val) n.69+1777A>C
17	g.8121591A>G	CA397986926	HES7	c.673T>C (p.Phe225Leu) c.658T>C (p.Phe220Leu) c.778T>C (p.Phe260Leu) c.769T>C (p.Phe257Leu) c.760T>C (p.Phe254Leu) c.631T>C (p.Phe211Leu) n.69+1777A>G	gnomAD v4
17	g.8121591A>T	CA397986927	HES7	c.673T>A (p.Phe225Ile) c.658T>A (p.Phe220Ile) c.778T>A (p.Phe260Ile) c.769T>A (p.Phe257Ile) c.760T>A (p.Phe254Ile) c.631T>A (p.Phe211Ile) n.69+1777A>T
17	g.8121592A>C	CA497760784	HES7	c.672T>G (p.Ala224=) c.657T>G (p.Ala219=) c.777T>G (p.Ala259=) c.768T>G (p.Ala256=) c.759T>G (p.Ala253=) c.630T>G (p.Ala210=) n.69+1778A>C
17	g.8121592A>G	CA497760785	HES7	c.672T>C (p.Ala224=) c.657T>C (p.Ala219=) c.777T>C (p.Ala259=) c.768T>C (p.Ala256=) c.759T>C (p.Ala253=) c.630T>C (p.Ala210=) n.69+1778A>G	gnomAD v4
17	g.8121592A>T	CA497760786	HES7	c.672T>A (p.Ala224=) c.657T>A (p.Ala219=) c.777T>A (p.Ala259=) c.768T>A (p.Ala256=) c.759T>A (p.Ala253=) c.630T>A (p.Ala210=) n.69+1778A>T
17	g.8121593G>A	CA397986932	HES7	c.671C>T (p.Ala224Val) c.656C>T (p.Ala219Val) c.776C>T (p.Ala259Val) c.767C>T (p.Ala256Val) c.758C>T (p.Ala253Val) c.629C>T (p.Ala210Val) n.69+1779G>A	gnomAD v4
17	g.8121593G>C	CA397986929	HES7	c.671C>G (p.Ala224Gly) c.656C>G (p.Ala219Gly) c.776C>G (p.Ala259Gly) c.767C>G (p.Ala256Gly) c.758C>G (p.Ala253Gly) c.629C>G (p.Ala210Gly) n.69+1779G>C	gnomAD v4
17	g.8121593G>T	CA397986930	HES7	c.671C>A (p.Ala224Asp) c.656C>A (p.Ala219Asp) c.776C>A (p.Ala259Asp) c.767C>A (p.Ala256Asp) c.758C>A (p.Ala253Asp) c.629C>A (p.Ala210Asp) n.69+1779G>T	gnomAD v4
17	g.8121594C>A	CA397986934	HES7	c.670G>T (p.Ala224Ser) c.655G>T (p.Ala219Ser) c.775G>T (p.Ala259Ser) c.766G>T (p.Ala256Ser) c.757G>T (p.Ala253Ser) c.628G>T (p.Ala210Ser) n.69+1780C>A	gnomAD v4
17	g.8121594C>G	CA397986936	HES7	c.670G>C (p.Ala224Pro) c.655G>C (p.Ala219Pro) c.775G>C (p.Ala259Pro) c.766G>C (p.Ala256Pro) c.757G>C (p.Ala253Pro) c.628G>C (p.Ala210Pro) n.69+1780C>G
17	g.8121594C>T	CA397986937	HES7	c.670G>A (p.Ala224Thr) c.655G>A (p.Ala219Thr) c.775G>A (p.Ala259Thr) c.766G>A (p.Ala256Thr) c.757G>A (p.Ala253Thr) c.628G>A (p.Ala210Thr) n.69+1780C>T	gnomAD v4
17	g.8121595G>A	CA497760787	HES7	c.669C>T (p.Pro223=) c.654C>T (p.Pro218=) c.774C>T (p.Pro258=) c.765C>T (p.Pro255=) c.756C>T (p.Pro252=) c.627C>T (p.Pro209=) n.69+1781G>A	dbSNP gnomAD v3 gnomAD v4
17	g.8121595G>C	CA497760788	HES7	c.669C>G (p.Pro223=) c.654C>G (p.Pro218=) c.774C>G (p.Pro258=) c.765C>G (p.Pro255=) c.756C>G (p.Pro252=) c.627C>G (p.Pro209=) n.69+1781G>C	gnomAD v4
17	g.8121595G=	CA2246159800	HES7	c.669C= (p.Pro223=) c.654C= (p.Pro218=) c.774C= (p.Pro258=) c.765C= (p.Pro255=) c.756C= (p.Pro252=) c.627C= (p.Pro209=) n.69+1781G=
17	g.8121595G>T	CA497760789	HES7	c.669C>A (p.Pro223=) c.654C>A (p.Pro218=) c.774C>A (p.Pro258=) c.765C>A (p.Pro255=) c.756C>A (p.Pro252=) c.627C>A (p.Pro209=) n.69+1781G>T	gnomAD v4
17	g.8121597del	CA2635936647	HES7	c.669del (p.Ala224LeufsTer?) c.654del (p.Ala219LeufsTer?) c.774del (p.Ala259LeufsTer?) c.765del (p.Ala256LeufsTer?) c.756del (p.Ala253LeufsTer?) c.627del (p.Ala210LeufsTer?) n.69+1783del	gnomAD v4
17	g.8121599_8121607dup	CA2576161668	HES7	c.661_669dup (p.Pro223_Ala224insProProPro) c.646_654dup (p.Pro218_Ala219insProProPro) c.766_774dup (p.Pro258_Ala259insProProPro) c.757_765dup (p.Pro255_Ala256insProProPro) c.748_756dup (p.Pro252_Ala253insProProPro) c.619_627dup (p.Pro209_Ala210insProProPro) n.69+1785_69+1793dup	gnomAD v4
17	g.8121596G>A	CA397986939	HES7	c.668C>T (p.Pro223Leu) c.653C>T (p.Pro218Leu) c.773C>T (p.Pro258Leu) c.764C>T (p.Pro255Leu) c.755C>T (p.Pro252Leu) c.626C>T (p.Pro209Leu) n.69+1782G>A	gnomAD v4
17	g.8121596G>C	CA397986941	HES7	c.668C>G (p.Pro223Arg) c.653C>G (p.Pro218Arg) c.773C>G (p.Pro258Arg) c.764C>G (p.Pro255Arg) c.755C>G (p.Pro252Arg) c.626C>G (p.Pro209Arg) n.69+1782G>C
17	g.8121596G>T	CA397986943	HES7	c.668C>A (p.Pro223His) c.653C>A (p.Pro218His) c.773C>A (p.Pro258His) c.764C>A (p.Pro255His) c.755C>A (p.Pro252His) c.626C>A (p.Pro209His) n.69+1782G>T	gnomAD v4
17	g.8121604_8121648del	CA2635936654	HES7	c.624_668del (p.His209_Pro223del) c.609_653del (p.His204_Pro218del) c.729_773del (p.His244_Pro258del) c.720_764del (p.His241_Pro255del) c.711_755del (p.His238_Pro252del) c.582_626del (p.His195_Pro209del) n.69+1790_69+1834del	gnomAD v4
17	g.8121604_8121657del	CA2635936652	HES7	c.615_668del (p.Pro206_Pro223del) c.600_653del (p.Pro201_Pro218del) c.720_773del (p.Pro241_Pro258del) c.711_764del (p.Pro238_Pro255del) c.702_755del (p.Pro235_Pro252del) c.573_626del (p.Pro192_Pro209del) n.69+1790_69+1843del	gnomAD v4
17	g.8121597G>A	CA397986945	HES7	c.667C>T (p.Pro223Ser) c.652C>T (p.Pro218Ser) c.772C>T (p.Pro258Ser) c.763C>T (p.Pro255Ser) c.754C>T (p.Pro252Ser) c.625C>T (p.Pro209Ser) n.69+1783G>A	dbSNP gnomAD v4
17	g.8121597G>C	CA397986947	HES7	c.667C>G (p.Pro223Ala) c.652C>G (p.Pro218Ala) c.772C>G (p.Pro258Ala) c.763C>G (p.Pro255Ala) c.754C>G (p.Pro252Ala) c.625C>G (p.Pro209Ala) n.69+1783G>C	gnomAD v4
17	g.8121597G=	CA2246159803	HES7	c.667C= (p.Pro223=) c.652C= (p.Pro218=) c.772C= (p.Pro258=) c.763C= (p.Pro255=) c.754C= (p.Pro252=) c.625C= (p.Pro209=) n.69+1783G=
17	g.8121597G>T	CA397986948	HES7	c.667C>A (p.Pro223Thr) c.652C>A (p.Pro218Thr) c.772C>A (p.Pro258Thr) c.763C>A (p.Pro255Thr) c.754C>A (p.Pro252Thr) c.625C>A (p.Pro209Thr) n.69+1783G>T	gnomAD v4
17	g.8121598C>A	CA497760790	HES7	c.666G>T (p.Pro222=) c.651G>T (p.Pro217=) c.771G>T (p.Pro257=) c.762G>T (p.Pro254=) c.753G>T (p.Pro251=) c.624G>T (p.Pro208=) n.69+1784C>A	dbSNP gnomAD v4
17	g.8121598C=	CA2246159810	HES7	c.666G= (p.Pro222=) c.651G= (p.Pro217=) c.771G= (p.Pro257=) c.762G= (p.Pro254=) c.753G= (p.Pro251=) c.624G= (p.Pro208=) n.69+1784C=
17	g.8121598C>G	CA497760791	HES7	c.666G>C (p.Pro222=) c.651G>C (p.Pro217=) c.771G>C (p.Pro257=) c.762G>C (p.Pro254=) c.753G>C (p.Pro251=) c.624G>C (p.Pro208=) n.69+1784C>G	gnomAD v4
17	g.8121598C>T	CA497760792	HES7	c.666G>A (p.Pro222=) c.651G>A (p.Pro217=) c.771G>A (p.Pro257=) c.762G>A (p.Pro254=) c.753G>A (p.Pro251=) c.624G>A (p.Pro208=) n.69+1784C>T	gnomAD v4
17	g.8121599G>A	CA397986951	HES7	c.665C>T (p.Pro222Leu) c.650C>T (p.Pro217Leu) c.770C>T (p.Pro257Leu) c.761C>T (p.Pro254Leu) c.752C>T (p.Pro251Leu) c.623C>T (p.Pro208Leu) n.69+1785G>A	gnomAD v4
17	g.8121599G>C	CA397986950	HES7	c.665C>G (p.Pro222Arg) c.650C>G (p.Pro217Arg) c.770C>G (p.Pro257Arg) c.761C>G (p.Pro254Arg) c.752C>G (p.Pro251Arg) c.623C>G (p.Pro208Arg) n.69+1785G>C
17	g.8121599G>T	CA397986949	HES7	c.665C>A (p.Pro222Gln) c.650C>A (p.Pro217Gln) c.770C>A (p.Pro257Gln) c.761C>A (p.Pro254Gln) c.752C>A (p.Pro251Gln) c.623C>A (p.Pro208Gln) n.69+1785G>T	gnomAD v4
17	g.8121604_8121654del	CA2635936662	HES7	c.615_665del (p.Pro206_Pro222del) c.600_650del (p.Pro201_Pro217del) c.720_770del (p.Pro241_Pro257del) c.711_761del (p.Pro238_Pro254del) c.702_752del (p.Pro235_Pro251del) c.573_623del (p.Pro192_Pro208del) n.69+1790_69+1840del	gnomAD v4
17	g.8121600G>A	CA397986952	HES7	c.664C>T (p.Pro222Ser) c.649C>T (p.Pro217Ser) c.769C>T (p.Pro257Ser) c.760C>T (p.Pro254Ser) c.751C>T (p.Pro251Ser) c.622C>T (p.Pro208Ser) n.69+1786G>A	gnomAD v4
17	g.8121600G>C	CA397986954	HES7	c.664C>G (p.Pro222Ala) c.649C>G (p.Pro217Ala) c.769C>G (p.Pro257Ala) c.760C>G (p.Pro254Ala) c.751C>G (p.Pro251Ala) c.622C>G (p.Pro208Ala) n.69+1786G>C
17	g.8121600G>T	CA397986955	HES7	c.664C>A (p.Pro222Thr) c.649C>A (p.Pro217Thr) c.769C>A (p.Pro257Thr) c.760C>A (p.Pro254Thr) c.751C>A (p.Pro251Thr) c.622C>A (p.Pro208Thr) n.69+1786G>T	gnomAD v4
17	g.8121606_8121614dup	CA2635936669	HES7	c.656_664dup (p.Pro221_Pro222insLeuProPro) c.641_649dup (p.Pro216_Pro217insLeuProPro) c.761_769dup (p.Pro256_Pro257insLeuProPro) c.752_760dup (p.Pro253_Pro254insLeuProPro) c.743_751dup (p.Pro250_Pro251insLeuProPro) c.614_622dup (p.Pro207_Pro208insLeuProPro) n.69+1792_69+1800dup	gnomAD v4
17	g.8121606_8121614del	CA2635936668	HES7	c.656_664del (p.Leu219_Pro221del) c.641_649del (p.Leu214_Pro216del) c.761_769del (p.Leu254_Pro256del) c.752_760del (p.Leu251_Pro253del) c.743_751del (p.Leu248_Pro250del) c.614_622del (p.Leu205_Pro207del) n.69+1792_69+1800del	gnomAD v4
17	g.8121601C>A	CA497760793	HES7	c.663G>T (p.Pro221=) c.648G>T (p.Pro216=) c.768G>T (p.Pro256=) c.759G>T (p.Pro253=) c.750G>T (p.Pro250=) c.621G>T (p.Pro207=) n.69+1787C>A	gnomAD v4
17	g.8121601C=	CA2246159814	HES7	c.663G= (p.Pro221=) c.648G= (p.Pro216=) c.768G= (p.Pro256=) c.759G= (p.Pro253=) c.750G= (p.Pro250=) c.621G= (p.Pro207=) n.69+1787C=
17	g.8121601C>G	CA497760795	HES7	c.663G>C (p.Pro221=) c.648G>C (p.Pro216=) c.768G>C (p.Pro256=) c.759G>C (p.Pro253=) c.750G>C (p.Pro250=) c.621G>C (p.Pro207=) n.69+1787C>G	dbSNP gnomAD v4
17	g.8121601C>T	CA497760794	HES7	c.663G>A (p.Pro221=) c.648G>A (p.Pro216=) c.768G>A (p.Pro256=) c.759G>A (p.Pro253=) c.750G>A (p.Pro250=) c.621G>A (p.Pro207=) n.69+1787C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121601dup	CA2808397532	HES7	c.663dup (p.Pro222AlafsTer24) c.648dup (p.Pro217AlafsTer?) c.648dup (p.Pro217AlafsTer24) c.768dup (p.Pro257AlafsTer24) c.759dup (p.Pro254AlafsTer24) c.750dup (p.Pro251AlafsTer24) c.621dup (p.Pro208AlafsTer24) n.69+1787dup
17	g.8121601_8121602delinsCG	CA2246159817	HES7	c.662_663delinsCG (p.Pro221=) c.647_648delinsCG (p.Pro216=) c.767_768delinsCG (p.Pro256=) c.758_759delinsCG (p.Pro253=) c.749_750delinsCG (p.Pro250=) c.620_621delinsCG (p.Pro207=) n.69+1787_69+1788delinsCG
17	g.8121602G>A	CA287536964	HES7	c.662C>T (p.Pro221Leu) c.647C>T (p.Pro216Leu) c.767C>T (p.Pro256Leu) c.758C>T (p.Pro253Leu) c.749C>T (p.Pro250Leu) c.620C>T (p.Pro207Leu) n.69+1788G>A	dbSNP gnomAD v3 gnomAD v4
17	g.8121602G>C	CA397986959	HES7	c.662C>G (p.Pro221Arg) c.647C>G (p.Pro216Arg) c.767C>G (p.Pro256Arg) c.758C>G (p.Pro253Arg) c.749C>G (p.Pro250Arg) c.620C>G (p.Pro207Arg) n.69+1788G>C	gnomAD v4
17	g.8121602G=	CA2246159821	HES7	c.662C= (p.Pro221=) c.647C= (p.Pro216=) c.767C= (p.Pro256=) c.758C= (p.Pro253=) c.749C= (p.Pro250=) c.620C= (p.Pro207=) n.69+1788G=
17	g.8121602G>T	CA397986961	HES7	c.662C>A (p.Pro221Gln) c.647C>A (p.Pro216Gln) c.767C>A (p.Pro256Gln) c.758C>A (p.Pro253Gln) c.749C>A (p.Pro250Gln) c.620C>A (p.Pro207Gln) n.69+1788G>T	gnomAD v4
17	g.8121606dup	CA2635936677	HES7	c.662dup (p.Pro222AlafsTer24) c.647dup (p.Pro217AlafsTer?) c.647dup (p.Pro217AlafsTer24) c.767dup (p.Pro257AlafsTer24) c.758dup (p.Pro254AlafsTer24) c.749dup (p.Pro251AlafsTer24) c.620dup (p.Pro208AlafsTer24) n.69+1792dup	gnomAD v4
17	g.8121604_8121606dup	CA2635936679	HES7	c.660_662dup (p.Pro221_Pro222insPro) c.645_647dup (p.Pro216_Pro217insPro) c.765_767dup (p.Pro256_Pro257insPro) c.756_758dup (p.Pro253_Pro254insPro) c.747_749dup (p.Pro250_Pro251insPro) c.618_620dup (p.Pro207_Pro208insPro) n.69+1790_69+1792dup	gnomAD v4
17	g.8121606del	CA624724232	HES7	c.662del (p.Pro221ArgfsTer?) c.647del (p.Pro216ArgfsTer?) c.767del (p.Pro256ArgfsTer?) c.758del (p.Pro253ArgfsTer?) c.749del (p.Pro250ArgfsTer?) c.620del (p.Pro207ArgfsTer?) n.69+1792del	dbSNP gnomAD v2 gnomAD v4
17	g.8121603G>A	CA397986964	HES7	c.661C>T (p.Pro221Ser) c.646C>T (p.Pro216Ser) c.766C>T (p.Pro256Ser) c.757C>T (p.Pro253Ser) c.748C>T (p.Pro250Ser) c.619C>T (p.Pro207Ser) n.69+1789G>A	gnomAD v4
17	g.8121603G>C	CA397986966	HES7	c.661C>G (p.Pro221Ala) c.646C>G (p.Pro216Ala) c.766C>G (p.Pro256Ala) c.757C>G (p.Pro253Ala) c.748C>G (p.Pro250Ala) c.619C>G (p.Pro207Ala) n.69+1789G>C	gnomAD v4
17	g.8121603G>T	CA397986968	HES7	c.661C>A (p.Pro221Thr) c.646C>A (p.Pro216Thr) c.766C>A (p.Pro256Thr) c.757C>A (p.Pro253Thr) c.748C>A (p.Pro250Thr) c.619C>A (p.Pro207Thr) n.69+1789G>T	gnomAD v4
17	g.8121604G>A	CA497760796	HES7	c.660C>T (p.Pro220=) c.645C>T (p.Pro215=) c.765C>T (p.Pro255=) c.756C>T (p.Pro252=) c.747C>T (p.Pro249=) c.618C>T (p.Pro206=) n.69+1790G>A	gnomAD v4
17	g.8121604G>C	CA497760797	HES7	c.660C>G (p.Pro220=) c.645C>G (p.Pro215=) c.765C>G (p.Pro255=) c.756C>G (p.Pro252=) c.747C>G (p.Pro249=) c.618C>G (p.Pro206=) n.69+1790G>C
17	g.8121604G>T	CA497760798	HES7	c.660C>A (p.Pro220=) c.645C>A (p.Pro215=) c.765C>A (p.Pro255=) c.756C>A (p.Pro252=) c.747C>A (p.Pro249=) c.618C>A (p.Pro206=) n.69+1790G>T	gnomAD v4
17	g.8121605G>A	CA397986971	HES7	c.659C>T (p.Pro220Leu) c.644C>T (p.Pro215Leu) c.764C>T (p.Pro255Leu) c.755C>T (p.Pro252Leu) c.746C>T (p.Pro249Leu) c.617C>T (p.Pro206Leu) n.69+1791G>A	gnomAD v4
17	g.8121605G>C	CA397986973	HES7	c.659C>G (p.Pro220Arg) c.644C>G (p.Pro215Arg) c.764C>G (p.Pro255Arg) c.755C>G (p.Pro252Arg) c.746C>G (p.Pro249Arg) c.617C>G (p.Pro206Arg) n.69+1791G>C
17	g.8121605G>T	CA397986975	HES7	c.659C>A (p.Pro220His) c.644C>A (p.Pro215His) c.764C>A (p.Pro255His) c.755C>A (p.Pro252His) c.746C>A (p.Pro249His) c.617C>A (p.Pro206His) n.69+1791G>T	gnomAD v4
17	g.8121605_8121606insCT	CA2635936693	HES7	c.658_659insAG (p.Pro220GlnfsTer?) c.643_644insAG (p.Pro215GlnfsTer?) c.763_764insAG (p.Pro255GlnfsTer?) c.754_755insAG (p.Pro252GlnfsTer?) c.745_746insAG (p.Pro249GlnfsTer?) c.616_617insAG (p.Pro206GlnfsTer?) n.69+1791_69+1792insCT	gnomAD v4
17	g.8121606G>A	CA397986984	HES7	c.658C>T (p.Pro220Ser) c.643C>T (p.Pro215Ser) c.763C>T (p.Pro255Ser) c.754C>T (p.Pro252Ser) c.745C>T (p.Pro249Ser) c.616C>T (p.Pro206Ser) n.69+1792G>A	dbSNP gnomAD v3 gnomAD v4
17	g.8121606G>C	CA397986978	HES7	c.658C>G (p.Pro220Ala) c.643C>G (p.Pro215Ala) c.763C>G (p.Pro255Ala) c.754C>G (p.Pro252Ala) c.745C>G (p.Pro249Ala) c.616C>G (p.Pro206Ala) n.69+1792G>C
17	g.8121606G=	CA2246159824	HES7	c.658C= (p.Pro220=) c.643C= (p.Pro215=) c.763C= (p.Pro255=) c.754C= (p.Pro252=) c.745C= (p.Pro249=) c.616C= (p.Pro206=) n.69+1792G=
17	g.8121606G>T	CA397986980	HES7	c.658C>A (p.Pro220Thr) c.643C>A (p.Pro215Thr) c.763C>A (p.Pro255Thr) c.754C>A (p.Pro252Thr) c.745C>A (p.Pro249Thr) c.616C>A (p.Pro206Thr) n.69+1792G>T	gnomAD v4
17	g.8121607C>A	CA497760799	HES7	c.657G>T (p.Leu219=) c.642G>T (p.Leu214=) c.762G>T (p.Leu254=) c.753G>T (p.Leu251=) c.744G>T (p.Leu248=) c.615G>T (p.Leu205=) n.69+1793C>A	gnomAD v4
17	g.8121607C>G	CA497760801	HES7	c.657G>C (p.Leu219=) c.642G>C (p.Leu214=) c.762G>C (p.Leu254=) c.753G>C (p.Leu251=) c.744G>C (p.Leu248=) c.615G>C (p.Leu205=) n.69+1793C>G	gnomAD v4
17	g.8121607C>T	CA497760800	HES7	c.657G>A (p.Leu219=) c.642G>A (p.Leu214=) c.762G>A (p.Leu254=) c.753G>A (p.Leu251=) c.744G>A (p.Leu248=) c.615G>A (p.Leu205=) n.69+1793C>T	gnomAD v4
17	g.8121607_8121608del	CA2635936698	HES7	c.656_657del (p.Leu219ProfsTer26) c.641_642del (p.Leu214ProfsTer?) c.641_642del (p.Leu214ProfsTer26) c.761_762del (p.Leu254ProfsTer26) c.752_753del (p.Leu251ProfsTer26) c.743_744del (p.Leu248ProfsTer26) c.614_615del (p.Leu205ProfsTer26) n.69+1793_69+1794del	gnomAD v4
17	g.8121608A>C	CA397986986	HES7	c.656T>G (p.Leu219Arg) c.641T>G (p.Leu214Arg) c.761T>G (p.Leu254Arg) c.752T>G (p.Leu251Arg) c.743T>G (p.Leu248Arg) c.614T>G (p.Leu205Arg) n.69+1794A>C
17	g.8121608A>G	CA397986989	HES7	c.656T>C (p.Leu219Pro) c.641T>C (p.Leu214Pro) c.761T>C (p.Leu254Pro) c.752T>C (p.Leu251Pro) c.743T>C (p.Leu248Pro) c.614T>C (p.Leu205Pro) n.69+1794A>G	gnomAD v4
17	g.8121608A>T	CA397986991	HES7	c.656T>A (p.Leu219Gln) c.641T>A (p.Leu214Gln) c.761T>A (p.Leu254Gln) c.752T>A (p.Leu251Gln) c.743T>A (p.Leu248Gln) c.614T>A (p.Leu205Gln) n.69+1794A>T	gnomAD v4
17	g.8121608_8121609insCAGGTGG	CA2635936711	HES7	c.655_656insCCACCTG (p.Leu219ProfsTer29) c.640_641insCCACCTG (p.Leu214ProfsTer?) c.640_641insCCACCTG (p.Leu214ProfsTer29) c.760_761insCCACCTG (p.Leu254ProfsTer29) c.751_752insCCACCTG (p.Leu251ProfsTer29) c.742_743insCCACCTG (p.Leu248ProfsTer29) c.613_614insCCACCTG (p.Leu205ProfsTer29) n.69+1794_69+1795insCAGGTGG	gnomAD v4
17	g.8121608_8121609insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG	CA2808397533	HES7	c.655_656insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu219ProfsTer?) c.640_641insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu214ProfsTer?) c.760_761insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu254ProfsTer?) c.751_752insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu251ProfsTer?) c.742_743insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu248ProfsTer?) c.613_614insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu205ProfsTer?) n.69+1794_69+1795insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG
17	g.8121609del	CA2635936710	HES7	c.655del (p.Leu219CysfsTer?) c.640del (p.Leu214CysfsTer?) c.760del (p.Leu254CysfsTer?) c.751del (p.Leu251CysfsTer?) c.742del (p.Leu248CysfsTer?) c.613del (p.Leu205CysfsTer?) n.69+1795del	gnomAD v4
17	g.8121609G>A	CA497760802	HES7	c.655C>T (p.Leu219=) c.640C>T (p.Leu214=) c.760C>T (p.Leu254=) c.751C>T (p.Leu251=) c.742C>T (p.Leu248=) c.613C>T (p.Leu205=) n.69+1795G>A	gnomAD v4
17	g.8121609G>C	CA397986993	HES7	c.655C>G (p.Leu219Val) c.640C>G (p.Leu214Val) c.760C>G (p.Leu254Val) c.751C>G (p.Leu251Val) c.742C>G (p.Leu248Val) c.613C>G (p.Leu205Val) n.69+1795G>C	dbSNP gnomAD v4
17	g.8121609G=	CA2246159828	HES7	c.655C= (p.Leu219=) c.640C= (p.Leu214=) c.760C= (p.Leu254=) c.751C= (p.Leu251=) c.742C= (p.Leu248=) c.613C= (p.Leu205=) n.69+1795G=
17	g.8121609G>T	CA397986995	HES7	c.655C>A (p.Leu219Met) c.640C>A (p.Leu214Met) c.760C>A (p.Leu254Met) c.751C>A (p.Leu251Met) c.742C>A (p.Leu248Met) c.613C>A (p.Leu205Met) n.69+1795G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121612_8121623del	CA2635936709	HES7	c.644_655del (p.Pro215_Pro218del) c.629_640del (p.Pro210_Pro213del) c.749_760del (p.Pro250_Pro253del) c.740_751del (p.Pro247_Pro250del) c.731_742del (p.Pro244_Pro247del) c.602_613del (p.Pro201_Pro204del) n.69+1798_69+1809del	gnomAD v4
17	g.8121610C>A	CA497760803	HES7	c.654G>T (p.Pro218=) c.639G>T (p.Pro213=) c.759G>T (p.Pro253=) c.750G>T (p.Pro250=) c.741G>T (p.Pro247=) c.612G>T (p.Pro204=) n.69+1796C>A	gnomAD v4
17	g.8121610C=	CA2246159832	HES7	c.654G= (p.Pro218=) c.639G= (p.Pro213=) c.759G= (p.Pro253=) c.750G= (p.Pro250=) c.741G= (p.Pro247=) c.612G= (p.Pro204=) n.69+1796C=
17	g.8121610C>G	CA497760804	HES7	c.654G>C (p.Pro218=) c.639G>C (p.Pro213=) c.759G>C (p.Pro253=) c.750G>C (p.Pro250=) c.741G>C (p.Pro247=) c.612G>C (p.Pro204=) n.69+1796C>G	dbSNP gnomAD v3 gnomAD v4
17	g.8121610C>T	CA497760805	HES7	c.654G>A (p.Pro218=) c.639G>A (p.Pro213=) c.759G>A (p.Pro253=) c.750G>A (p.Pro250=) c.741G>A (p.Pro247=) c.612G>A (p.Pro204=) n.69+1796C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121610_8121611delinsCG	CA2246159834	HES7	c.653_654delinsCG (p.Pro218=) c.638_639delinsCG (p.Pro213=) c.758_759delinsCG (p.Pro253=) c.749_750delinsCG (p.Pro250=) c.740_741delinsCG (p.Pro247=) c.611_612delinsCG (p.Pro204=) n.69+1796_69+1797delinsCG
17	g.8121610_8121611insA	CA2635936713	HES7	c.653_654insT (p.Leu219AlafsTer27) c.638_639insT (p.Leu214AlafsTer?) c.638_639insT (p.Leu214AlafsTer27) c.758_759insT (p.Leu254AlafsTer27) c.749_750insT (p.Leu251AlafsTer27) c.740_741insT (p.Leu248AlafsTer27) c.611_612insT (p.Leu205AlafsTer27) n.69+1796_69+1797insA	gnomAD v4
17	g.8121611G>A	CA397986999	HES7	c.653C>T (p.Pro218Leu) c.638C>T (p.Pro213Leu) c.758C>T (p.Pro253Leu) c.749C>T (p.Pro250Leu) c.740C>T (p.Pro247Leu) c.611C>T (p.Pro204Leu) n.69+1797G>A	dbSNP gnomAD v3 gnomAD v4
17	g.8121611G>C	CA397987002	HES7	c.653C>G (p.Pro218Arg) c.638C>G (p.Pro213Arg) c.758C>G (p.Pro253Arg) c.749C>G (p.Pro250Arg) c.740C>G (p.Pro247Arg) c.611C>G (p.Pro204Arg) n.69+1797G>C
17	g.8121611G=	CA2246159837	HES7	c.653C= (p.Pro218=) c.638C= (p.Pro213=) c.758C= (p.Pro253=) c.749C= (p.Pro250=) c.740C= (p.Pro247=) c.611C= (p.Pro204=) n.69+1797G=
17	g.8121611G>T	CA397987005	HES7	c.653C>A (p.Pro218Gln) c.638C>A (p.Pro213Gln) c.758C>A (p.Pro253Gln) c.749C>A (p.Pro250Gln) c.740C>A (p.Pro247Gln) c.611C>A (p.Pro204Gln) n.69+1797G>T	gnomAD v4
17	g.8121614del	CA624724234	HES7	c.653del (p.Pro218ArgfsTer?) c.638del (p.Pro213ArgfsTer?) c.758del (p.Pro253ArgfsTer?) c.749del (p.Pro250ArgfsTer?) c.740del (p.Pro247ArgfsTer?) c.611del (p.Pro204ArgfsTer?) n.69+1800del	dbSNP gnomAD v2 gnomAD v4
17	g.8121612G>A	CA397987007	HES7	c.652C>T (p.Pro218Ser) c.637C>T (p.Pro213Ser) c.757C>T (p.Pro253Ser) c.748C>T (p.Pro250Ser) c.739C>T (p.Pro247Ser) c.610C>T (p.Pro204Ser) n.69+1798G>A	gnomAD v4
17	g.8121612G>C	CA397987010	HES7	c.652C>G (p.Pro218Ala) c.637C>G (p.Pro213Ala) c.757C>G (p.Pro253Ala) c.748C>G (p.Pro250Ala) c.739C>G (p.Pro247Ala) c.610C>G (p.Pro204Ala) n.69+1798G>C
17	g.8121612G>T	CA397987012	HES7	c.652C>A (p.Pro218Thr) c.637C>A (p.Pro213Thr) c.757C>A (p.Pro253Thr) c.748C>A (p.Pro250Thr) c.739C>A (p.Pro247Thr) c.610C>A (p.Pro204Thr) n.69+1798G>T	gnomAD v4
17	g.8121613G>A	CA497760806	HES7	c.651C>T (p.Ala217=) c.636C>T (p.Ala212=) c.756C>T (p.Ala252=) c.747C>T (p.Ala249=) c.738C>T (p.Ala246=) c.609C>T (p.Ala203=) n.69+1799G>A	gnomAD v4
17	g.8121613G>C	CA497760807	HES7	c.651C>G (p.Ala217=) c.636C>G (p.Ala212=) c.756C>G (p.Ala252=) c.747C>G (p.Ala249=) c.738C>G (p.Ala246=) c.609C>G (p.Ala203=) n.69+1799G>C
17	g.8121613G>T	CA497760808	HES7	c.651C>A (p.Ala217=) c.636C>A (p.Ala212=) c.756C>A (p.Ala252=) c.747C>A (p.Ala249=) c.738C>A (p.Ala246=) c.609C>A (p.Ala203=) n.69+1799G>T	gnomAD v4
17	g.8121614G>A	CA397987016	HES7	c.650C>T (p.Ala217Val) c.635C>T (p.Ala212Val) c.755C>T (p.Ala252Val) c.746C>T (p.Ala249Val) c.737C>T (p.Ala246Val) c.608C>T (p.Ala203Val) n.69+1800G>A	gnomAD v4
17	g.8121614G>C	CA397987018	HES7	c.650C>G (p.Ala217Gly) c.635C>G (p.Ala212Gly) c.755C>G (p.Ala252Gly) c.746C>G (p.Ala249Gly) c.737C>G (p.Ala246Gly) c.608C>G (p.Ala203Gly) n.69+1800G>C	gnomAD v4
17	g.8121614G=	CA2246159842	HES7	c.650C= (p.Ala217=) c.635C= (p.Ala212=) c.755C= (p.Ala252=) c.746C= (p.Ala249=) c.737C= (p.Ala246=) c.608C= (p.Ala203=) n.69+1800G=
17	g.8121614G>T	CA397987014	HES7	c.650C>A (p.Ala217Asp) c.635C>A (p.Ala212Asp) c.755C>A (p.Ala252Asp) c.746C>A (p.Ala249Asp) c.737C>A (p.Ala246Asp) c.608C>A (p.Ala203Asp) n.69+1800G>T	dbSNP gnomAD v4
17	g.8121614_8121617del	CA2635936740	HES7	c.647_650del (p.Lys216ThrfsTer?) c.632_635del (p.Lys211ThrfsTer?) c.752_755del (p.Lys251ThrfsTer?) c.743_746del (p.Lys248ThrfsTer?) c.734_737del (p.Lys245ThrfsTer?) c.605_608del (p.Lys202ThrfsTer?) n.69+1800_69+1803del	gnomAD v4
17	g.8121615C>A	CA397987027	HES7	c.649G>T (p.Ala217Ser) c.634G>T (p.Ala212Ser) c.754G>T (p.Ala252Ser) c.745G>T (p.Ala249Ser) c.736G>T (p.Ala246Ser) c.607G>T (p.Ala203Ser) n.69+1801C>A	gnomAD v4
17	g.8121615C>G	CA397987022	HES7	c.649G>C (p.Ala217Pro) c.634G>C (p.Ala212Pro) c.754G>C (p.Ala252Pro) c.745G>C (p.Ala249Pro) c.736G>C (p.Ala246Pro) c.607G>C (p.Ala203Pro) n.69+1801C>G	gnomAD v4
17	g.8121615C>T	CA397987024	HES7	c.649G>A (p.Ala217Thr) c.634G>A (p.Ala212Thr) c.754G>A (p.Ala252Thr) c.745G>A (p.Ala249Thr) c.736G>A (p.Ala246Thr) c.607G>A (p.Ala203Thr) n.69+1801C>T	gnomAD v4
17	g.8121616C>A	CA397987029	HES7	c.648G>T (p.Lys216Asn) c.633G>T (p.Lys211Asn) c.753G>T (p.Lys251Asn) c.744G>T (p.Lys248Asn) c.735G>T (p.Lys245Asn) c.606G>T (p.Lys202Asn) n.69+1802C>A	gnomAD v4
17	g.8121616C=	CA2246159844	HES7	c.648G= (p.Lys216=) c.633G= (p.Lys211=) c.753G= (p.Lys251=) c.744G= (p.Lys248=) c.735G= (p.Lys245=) c.606G= (p.Lys202=) n.69+1802C=
17	g.8121616C>G	CA397987032	HES7	c.648G>C (p.Lys216Asn) c.633G>C (p.Lys211Asn) c.753G>C (p.Lys251Asn) c.744G>C (p.Lys248Asn) c.735G>C (p.Lys245Asn) c.606G>C (p.Lys202Asn) n.69+1802C>G	gnomAD v4
17	g.8121616C>T	CA497760809	HES7	c.648G>A (p.Lys216=) c.633G>A (p.Lys211=) c.753G>A (p.Lys251=) c.744G>A (p.Lys248=) c.735G>A (p.Lys245=) c.606G>A (p.Lys202=) n.69+1802C>T	dbSNP gnomAD v3 gnomAD v4
17	g.8121617T>A	CA397987035	HES7	c.647A>T (p.Lys216Met) c.632A>T (p.Lys211Met) c.752A>T (p.Lys251Met) c.743A>T (p.Lys248Met) c.734A>T (p.Lys245Met) c.605A>T (p.Lys202Met) n.69+1803T>A	gnomAD v4
17	g.8121617T>C	CA397987038	HES7	c.647A>G (p.Lys216Arg) c.632A>G (p.Lys211Arg) c.752A>G (p.Lys251Arg) c.743A>G (p.Lys248Arg) c.734A>G (p.Lys245Arg) c.605A>G (p.Lys202Arg) n.69+1803T>C	gnomAD v4
17	g.8121617T>G	CA397987039	HES7	c.647A>C (p.Lys216Thr) c.632A>C (p.Lys211Thr) c.752A>C (p.Lys251Thr) c.743A>C (p.Lys248Thr) c.734A>C (p.Lys245Thr) c.605A>C (p.Lys202Thr) n.69+1803T>G	gnomAD v4
17	g.8121618del	CA2635936759	HES7	c.647del (p.Lys216ArgfsTer?) c.632del (p.Lys211ArgfsTer?) c.752del (p.Lys251ArgfsTer?) c.743del (p.Lys248ArgfsTer?) c.734del (p.Lys245ArgfsTer?) c.605del (p.Lys202ArgfsTer?) n.69+1804del	gnomAD v4
17	g.8121618T>A	CA397987041	HES7	c.646A>T (p.Lys216Ter) c.631A>T (p.Lys211Ter) c.751A>T (p.Lys251Ter) c.742A>T (p.Lys248Ter) c.733A>T (p.Lys245Ter) c.604A>T (p.Lys202Ter) n.69+1804T>A
17	g.8121618T>C	CA397987044	HES7	c.646A>G (p.Lys216Glu) c.631A>G (p.Lys211Glu) c.751A>G (p.Lys251Glu) c.742A>G (p.Lys248Glu) c.733A>G (p.Lys245Glu) c.604A>G (p.Lys202Glu) n.69+1804T>C	gnomAD v4
17	g.8121618T>G	CA397987045	HES7	c.646A>C (p.Lys216Gln) c.631A>C (p.Lys211Gln) c.751A>C (p.Lys251Gln) c.742A>C (p.Lys248Gln) c.733A>C (p.Lys245Gln) c.604A>C (p.Lys202Gln) n.69+1804T>G
17	g.8121618_8121619delinsTG	CA2246159847	HES7	c.645_646delinsCA (p.Pro215=) c.630_631delinsCA (p.Pro210=) c.750_751delinsCA (p.Pro250=) c.741_742delinsCA (p.Pro247=) c.732_733delinsCA (p.Pro244=) c.603_604delinsCA (p.Pro201=) n.69+1804_69+1805delinsTG
17	g.8121619G>A	CA497760810	HES7	c.645C>T (p.Pro215=) c.630C>T (p.Pro210=) c.750C>T (p.Pro250=) c.741C>T (p.Pro247=) c.732C>T (p.Pro244=) c.603C>T (p.Pro201=) n.69+1805G>A	gnomAD v4
17	g.8121619G>C	CA497760811	HES7	c.645C>G (p.Pro215=) c.630C>G (p.Pro210=) c.750C>G (p.Pro250=) c.741C>G (p.Pro247=) c.732C>G (p.Pro244=) c.603C>G (p.Pro201=) n.69+1805G>C	gnomAD v4
17	g.8121619G>T	CA497760812	HES7	c.645C>A (p.Pro215=) c.630C>A (p.Pro210=) c.750C>A (p.Pro250=) c.741C>A (p.Pro247=) c.732C>A (p.Pro244=) c.603C>A (p.Pro201=) n.69+1805G>T	gnomAD v4
17	g.8121621del	CA624724235	HES7	c.645del (p.Lys216ArgfsTer?) c.630del (p.Lys211ArgfsTer?) c.750del (p.Lys251ArgfsTer?) c.741del (p.Lys248ArgfsTer?) c.732del (p.Lys245ArgfsTer?) c.603del (p.Lys202ArgfsTer?) n.69+1807del	dbSNP gnomAD v2 gnomAD v4
17	g.8121620G>A	CA397987050	HES7	c.644C>T (p.Pro215Leu) c.629C>T (p.Pro210Leu) c.749C>T (p.Pro250Leu) c.740C>T (p.Pro247Leu) c.731C>T (p.Pro244Leu) c.602C>T (p.Pro201Leu) n.69+1806G>A	gnomAD v4
17	g.8121620G>C	CA397987053	HES7	c.644C>G (p.Pro215Arg) c.629C>G (p.Pro210Arg) c.749C>G (p.Pro250Arg) c.740C>G (p.Pro247Arg) c.731C>G (p.Pro244Arg) c.602C>G (p.Pro201Arg) n.69+1806G>C
17	g.8121620G>T	CA397987055	HES7	c.644C>A (p.Pro215His) c.629C>A (p.Pro210His) c.749C>A (p.Pro250His) c.740C>A (p.Pro247His) c.731C>A (p.Pro244His) c.602C>A (p.Pro201His) n.69+1806G>T	gnomAD v4
17	g.8121621G>A	CA397987063	HES7	c.643C>T (p.Pro215Ser) c.628C>T (p.Pro210Ser) c.748C>T (p.Pro250Ser) c.739C>T (p.Pro247Ser) c.730C>T (p.Pro244Ser) c.601C>T (p.Pro201Ser) n.69+1807G>A	gnomAD v4
17	g.8121621G>C	CA397987058	HES7	c.643C>G (p.Pro215Ala) c.628C>G (p.Pro210Ala) c.748C>G (p.Pro250Ala) c.739C>G (p.Pro247Ala) c.730C>G (p.Pro244Ala) c.601C>G (p.Pro201Ala) n.69+1807G>C
17	g.8121621G>T	CA397987061	HES7	c.643C>A (p.Pro215Thr) c.628C>A (p.Pro210Thr) c.748C>A (p.Pro250Thr) c.739C>A (p.Pro247Thr) c.730C>A (p.Pro244Thr) c.601C>A (p.Pro201Thr) n.69+1807G>T	gnomAD v4
17	g.8121622C>A	CA497760813	HES7	c.642G>T (p.Ala214=) c.627G>T (p.Ala209=) c.747G>T (p.Ala249=) c.738G>T (p.Ala246=) c.729G>T (p.Ala243=) c.600G>T (p.Ala200=) n.69+1808C>A	gnomAD v4
17	g.8121622C>G	CA497760815	HES7	c.642G>C (p.Ala214=) c.627G>C (p.Ala209=) c.747G>C (p.Ala249=) c.738G>C (p.Ala246=) c.729G>C (p.Ala243=) c.600G>C (p.Ala200=) n.69+1808C>G
17	g.8121622C>T	CA497760814	HES7	c.642G>A (p.Ala214=) c.627G>A (p.Ala209=) c.747G>A (p.Ala249=) c.738G>A (p.Ala246=) c.729G>A (p.Ala243=) c.600G>A (p.Ala200=) n.69+1808C>T	gnomAD v4
17	g.8121623G>A	CA397987066	HES7	c.641C>T (p.Ala214Val) c.626C>T (p.Ala209Val) c.746C>T (p.Ala249Val) c.737C>T (p.Ala246Val) c.728C>T (p.Ala243Val) c.599C>T (p.Ala200Val) n.69+1809G>A	dbSNP gnomAD v4
17	g.8121623G>C	CA287536986	HES7	c.641C>G (p.Ala214Gly) c.626C>G (p.Ala209Gly) c.746C>G (p.Ala249Gly) c.737C>G (p.Ala246Gly) c.728C>G (p.Ala243Gly) c.599C>G (p.Ala200Gly) n.69+1809G>C	dbSNP gnomAD v3 gnomAD v4
17	g.8121623G=	CA2246159855	HES7	c.641C= (p.Ala214=) c.626C= (p.Ala209=) c.746C= (p.Ala249=) c.737C= (p.Ala246=) c.728C= (p.Ala243=) c.599C= (p.Ala200=) n.69+1809G=
17	g.8121623G>T	CA397987070	HES7	c.641C>A (p.Ala214Glu) c.626C>A (p.Ala209Glu) c.746C>A (p.Ala249Glu) c.737C>A (p.Ala246Glu) c.728C>A (p.Ala243Glu) c.599C>A (p.Ala200Glu) n.69+1809G>T	gnomAD v4
17	g.8121624C>A	CA397987072	HES7	c.640G>T (p.Ala214Ser) c.625G>T (p.Ala209Ser) c.745G>T (p.Ala249Ser) c.736G>T (p.Ala246Ser) c.727G>T (p.Ala243Ser) c.598G>T (p.Ala200Ser) n.69+1810C>A	gnomAD v4
17	g.8121624C=	CA2246159859	HES7	c.640G= (p.Ala214=) c.625G= (p.Ala209=) c.745G= (p.Ala249=) c.736G= (p.Ala246=) c.727G= (p.Ala243=) c.598G= (p.Ala200=) n.69+1810C=
17	g.8121624C>G	CA397987079	HES7	c.640G>C (p.Ala214Pro) c.625G>C (p.Ala209Pro) c.745G>C (p.Ala249Pro) c.736G>C (p.Ala246Pro) c.727G>C (p.Ala243Pro) c.598G>C (p.Ala200Pro) n.69+1810C>G	dbSNP
17	g.8121624C>T	CA397987081	HES7	c.640G>A (p.Ala214Thr) c.625G>A (p.Ala209Thr) c.745G>A (p.Ala249Thr) c.736G>A (p.Ala246Thr) c.727G>A (p.Ala243Thr) c.598G>A (p.Ala200Thr) n.69+1810C>T	gnomAD v4
17	g.8121627del	CA2635936815	HES7	c.640del (p.Ala214ArgfsTer?) c.625del (p.Ala209ArgfsTer?) c.745del (p.Ala249ArgfsTer?) c.736del (p.Ala246ArgfsTer?) c.727del (p.Ala243ArgfsTer?) c.598del (p.Ala200ArgfsTer?) n.69+1813del	gnomAD v4
17	g.8121625C>A	CA497760816	HES7	c.639G>T (p.Gly213=) c.624G>T (p.Gly208=) c.744G>T (p.Gly248=) c.735G>T (p.Gly245=) c.726G>T (p.Gly242=) c.597G>T (p.Gly199=) n.69+1811C>A	gnomAD v4
17	g.8121625C=	CA2246159864	HES7	c.639G= (p.Gly213=) c.624G= (p.Gly208=) c.744G= (p.Gly248=) c.735G= (p.Gly245=) c.726G= (p.Gly242=) c.597G= (p.Gly199=) n.69+1811C=
17	g.8121625C>G	CA497760817	HES7	c.639G>C (p.Gly213=) c.624G>C (p.Gly208=) c.744G>C (p.Gly248=) c.735G>C (p.Gly245=) c.726G>C (p.Gly242=) c.597G>C (p.Gly199=) n.69+1811C>G
17	g.8121625C>T	CA287536991	HES7	c.639G>A (p.Gly213=) c.624G>A (p.Gly208=) c.744G>A (p.Gly248=) c.735G>A (p.Gly245=) c.726G>A (p.Gly242=) c.597G>A (p.Gly199=) n.69+1811C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.8121626C>A	CA397987084	HES7	c.638G>T (p.Gly213Val) c.623G>T (p.Gly208Val) c.743G>T (p.Gly248Val) c.734G>T (p.Gly245Val) c.725G>T (p.Gly242Val) c.596G>T (p.Gly199Val) n.69+1812C>A	gnomAD v4
17	g.8121626C>G	CA397987085	HES7	c.638G>C (p.Gly213Ala) c.623G>C (p.Gly208Ala) c.743G>C (p.Gly248Ala) c.734G>C (p.Gly245Ala) c.725G>C (p.Gly242Ala) c.596G>C (p.Gly199Ala) n.69+1812C>G
17	g.8121626C>T	CA397987086	HES7	c.638G>A (p.Gly213Glu) c.623G>A (p.Gly208Glu) c.743G>A (p.Gly248Glu) c.734G>A (p.Gly245Glu) c.725G>A (p.Gly242Glu) c.596G>A (p.Gly199Glu) n.69+1812C>T	gnomAD v4
17	g.8121627C>A	CA397987087	HES7	c.637G>T (p.Gly213Trp) c.622G>T (p.Gly208Trp) c.742G>T (p.Gly248Trp) c.733G>T (p.Gly245Trp) c.724G>T (p.Gly242Trp) c.595G>T (p.Gly199Trp) n.69+1813C>A	gnomAD v4
17	g.8121627C=	CA2246159870	HES7	c.637G= (p.Gly213=) c.622G= (p.Gly208=) c.742G= (p.Gly248=) c.733G= (p.Gly245=) c.724G= (p.Gly242=) c.595G= (p.Gly199=) n.69+1813C=
17	g.8121627C>G	CA397987088	HES7	c.637G>C (p.Gly213Arg) c.622G>C (p.Gly208Arg) c.742G>C (p.Gly248Arg) c.733G>C (p.Gly245Arg) c.724G>C (p.Gly242Arg) c.595G>C (p.Gly199Arg) n.69+1813C>G	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.8121627C>T	CA397987090	HES7	c.637G>A (p.Gly213Arg) c.622G>A (p.Gly208Arg) c.742G>A (p.Gly248Arg) c.733G>A (p.Gly245Arg) c.724G>A (p.Gly242Arg) c.595G>A (p.Gly199Arg) n.69+1813C>T	dbSNP gnomAD v4
17	g.8121627_8121628insT	CA2808397534	HES7	c.636_637insA (p.Gly213ArgfsTer?) c.621_622insA (p.Gly208ArgfsTer?) c.741_742insA (p.Gly248ArgfsTer?) c.732_733insA (p.Gly245ArgfsTer?) c.723_724insA (p.Gly242ArgfsTer?) c.594_595insA (p.Gly199ArgfsTer?) n.69+1813_69+1814insT
17	g.8121628G>A	CA287536996	HES7	c.636C>T (p.Asp212=) c.621C>T (p.Asp207=) c.741C>T (p.Asp247=) c.732C>T (p.Asp244=) c.723C>T (p.Asp241=) c.594C>T (p.Asp198=) n.69+1814G>A	dbSNP gnomAD v4
17	g.8121628G>C	CA397987092	HES7	c.636C>G (p.Asp212Glu) c.621C>G (p.Asp207Glu) c.741C>G (p.Asp247Glu) c.732C>G (p.Asp244Glu) c.723C>G (p.Asp241Glu) c.594C>G (p.Asp198Glu) n.69+1814G>C
17	g.8121628G=	CA2246159876	HES7	c.636C= (p.Asp212=) c.621C= (p.Asp207=) c.741C= (p.Asp247=) c.732C= (p.Asp244=) c.723C= (p.Asp241=) c.594C= (p.Asp198=) n.69+1814G=
17	g.8121628G>T	CA397987094	HES7	c.636C>A (p.Asp212Glu) c.621C>A (p.Asp207Glu) c.741C>A (p.Asp247Glu) c.732C>A (p.Asp244Glu) c.723C>A (p.Asp241Glu) c.594C>A (p.Asp198Glu) n.69+1814G>T	gnomAD v4
17	g.8121629T>A	CA397987097	HES7	c.635A>T (p.Asp212Val) c.620A>T (p.Asp207Val) c.740A>T (p.Asp247Val) c.731A>T (p.Asp244Val) c.722A>T (p.Asp241Val) c.593A>T (p.Asp198Val) n.69+1815T>A
17	g.8121629T>C	CA397987100	HES7	c.635A>G (p.Asp212Gly) c.620A>G (p.Asp207Gly) c.740A>G (p.Asp247Gly) c.731A>G (p.Asp244Gly) c.722A>G (p.Asp241Gly) c.593A>G (p.Asp198Gly) n.69+1815T>C	gnomAD v4
17	g.8121629T>G	CA397987101	HES7	c.635A>C (p.Asp212Ala) c.620A>C (p.Asp207Ala) c.740A>C (p.Asp247Ala) c.731A>C (p.Asp244Ala) c.722A>C (p.Asp241Ala) c.593A>C (p.Asp198Ala) n.69+1815T>G
17	g.8121630C>A	CA397987103	HES7	c.634G>T (p.Asp212Tyr) c.619G>T (p.Asp207Tyr) c.739G>T (p.Asp247Tyr) c.730G>T (p.Asp244Tyr) c.721G>T (p.Asp241Tyr) c.592G>T (p.Asp198Tyr) n.69+1816C>A	gnomAD v4
17	g.8121630C>G	CA397987106	HES7	c.634G>C (p.Asp212His) c.619G>C (p.Asp207His) c.739G>C (p.Asp247His) c.730G>C (p.Asp244His) c.721G>C (p.Asp241His) c.592G>C (p.Asp198His) n.69+1816C>G
17	g.8121630C>T	CA397987109	HES7	c.634G>A (p.Asp212Asn) c.619G>A (p.Asp207Asn) c.739G>A (p.Asp247Asn) c.730G>A (p.Asp244Asn) c.721G>A (p.Asp241Asn) c.592G>A (p.Asp198Asn) n.69+1816C>T
17	g.8121631T>A	CA397987113	HES7	c.633A>T (p.Gln211His) c.618A>T (p.Gln206His) c.738A>T (p.Gln246His) c.729A>T (p.Gln243His) c.720A>T (p.Gln240His) c.591A>T (p.Gln197His) n.69+1817T>A
17	g.8121631T>C	CA497760818	HES7	c.633A>G (p.Gln211=) c.618A>G (p.Gln206=) c.738A>G (p.Gln246=) c.729A>G (p.Gln243=) c.720A>G (p.Gln240=) c.591A>G (p.Gln197=) n.69+1817T>C	dbSNP gnomAD v4
17	g.8121631T>G	CA397987116	HES7	c.633A>C (p.Gln211His) c.618A>C (p.Gln206His) c.738A>C (p.Gln246His) c.729A>C (p.Gln243His) c.720A>C (p.Gln240His) c.591A>C (p.Gln197His) n.69+1817T>G
17	g.8121631T=	CA2246159882	HES7	c.633A= (p.Gln211=) c.618A= (p.Gln206=) c.738A= (p.Gln246=) c.729A= (p.Gln243=) c.720A= (p.Gln240=) c.591A= (p.Gln197=) n.69+1817T=
17	g.8121632T>A	CA397987119	HES7	c.632A>T (p.Gln211Leu) c.617A>T (p.Gln206Leu) c.737A>T (p.Gln246Leu) c.728A>T (p.Gln243Leu) c.719A>T (p.Gln240Leu) c.590A>T (p.Gln197Leu) n.69+1818T>A
17	g.8121632T>C	CA397987121	HES7	c.632A>G (p.Gln211Arg) c.617A>G (p.Gln206Arg) c.737A>G (p.Gln246Arg) c.728A>G (p.Gln243Arg) c.719A>G (p.Gln240Arg) c.590A>G (p.Gln197Arg) n.69+1818T>C	gnomAD v4
17	g.8121632T>G	CA397987123	HES7	c.632A>C (p.Gln211Pro) c.617A>C (p.Gln206Pro) c.737A>C (p.Gln246Pro) c.728A>C (p.Gln243Pro) c.719A>C (p.Gln240Pro) c.590A>C (p.Gln197Pro) n.69+1818T>G	gnomAD v4
17	g.8121633G>A	CA397987126	HES7	c.631C>T (p.Gln211Ter) c.616C>T (p.Gln206Ter) c.736C>T (p.Gln246Ter) c.727C>T (p.Gln243Ter) c.718C>T (p.Gln240Ter) c.589C>T (p.Gln197Ter) n.69+1819G>A	gnomAD v4
17	g.8121633G>C	CA397987128	HES7	c.631C>G (p.Gln211Glu) c.616C>G (p.Gln206Glu) c.736C>G (p.Gln246Glu) c.727C>G (p.Gln243Glu) c.718C>G (p.Gln240Glu) c.589C>G (p.Gln197Glu) n.69+1819G>C	gnomAD v4
17	g.8121633G>T	CA397987130	HES7	c.631C>A (p.Gln211Lys) c.616C>A (p.Gln206Lys) c.736C>A (p.Gln246Lys) c.727C>A (p.Gln243Lys) c.718C>A (p.Gln240Lys) c.589C>A (p.Gln197Lys) n.69+1819G>T	gnomAD v4
17	g.8121633_8121635del	CA2635936850	HES7	c.629_631del (p.Arg210_Gln211delinsLys) c.614_616del (p.Arg205_Gln206delinsLys) c.734_736del (p.Arg245_Gln246delinsLys) c.725_727del (p.Arg242_Gln243delinsLys) c.716_718del (p.Arg239_Gln240delinsLys) c.587_589del (p.Arg196_Gln197delinsLys) n.69+1819_69+1821del	gnomAD v4
17	g.8121634T>A	CA397987133	HES7	c.630A>T (p.Arg210Ser) c.615A>T (p.Arg205Ser) c.735A>T (p.Arg245Ser) c.726A>T (p.Arg242Ser) c.717A>T (p.Arg239Ser) c.588A>T (p.Arg196Ser) n.69+1820T>A	gnomAD v4
17	g.8121634T>C	CA497760819	HES7	c.630A>G (p.Arg210=) c.615A>G (p.Arg205=) c.735A>G (p.Arg245=) c.726A>G (p.Arg242=) c.717A>G (p.Arg239=) c.588A>G (p.Arg196=) n.69+1820T>C	gnomAD v4
17	g.8121634T>G	CA397987135	HES7	c.630A>C (p.Arg210Ser) c.615A>C (p.Arg205Ser) c.735A>C (p.Arg245Ser) c.726A>C (p.Arg242Ser) c.717A>C (p.Arg239Ser) c.588A>C (p.Arg196Ser) n.69+1820T>G

Number of alleles fetched