家族性高コレステロール血症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser)	LDLR	Likely pathogenic	19	11222315	11222315	G	A	reviewed by expert panel	ClinGen:CA10585341,LDLR-LOVD, British Heart Foundation:LDLR_001372
Deletion	NM_000527.5(LDLR):c.1186+1del	LDLR	Pathogenic	19	11222314	11222314	TG	T	criteria provided, single submitter	ClinGen:CA10585342,LDLR-LOVD, British Heart Foundation:LDLR_000485
single nucleotide variant	NM_000527.5(LDLR):c.1186+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11222316	11222316	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585343,LDLR-LOVD, British Heart Foundation:LDLR_000168
single nucleotide variant	NM_000527.5(LDLR):c.1186+5G>A	LDLR	Likely pathogenic	19	11222320	11222320	G	A	reviewed by expert panel	ClinGen:CA10585344,LDLR-LOVD, British Heart Foundation:LDLR_000881
Deletion	NM_000527.4(LDLR):c.1186+700_2141-545del	LDLR	Pathogenic	19	11223015	11233305	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000171
Deletion	NM_000527.4(LDLR):c.1187-169_2312-790del	LDLR	Pathogenic	19	11223785	11237894	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000173
single nucleotide variant	NM_000527.5(LDLR):c.1187-2A>G	LDLR	Pathogenic/Likely pathogenic	19	11223952	11223952	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585346,LDLR-LOVD, British Heart Foundation:LDLR_000175
single nucleotide variant	NM_000527.5(LDLR):c.1187-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11223953	11223953	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585347,LDLR-LOVD, British Heart Foundation:LDLR_001373
single nucleotide variant	NM_000527.5(LDLR):c.1187-1G>T	LDLR	Pathogenic/Likely pathogenic	19	11223953	11223953	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585348,LDLR-LOVD, British Heart Foundation:LDLR_000174
Deletion	NM_000527.5(LDLR):c.1197_2205del (p.Ala399_Tyr400insTer)	LDLR	Pathogenic	19	11223963	11233913	GCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGC	G	criteria provided, single submitter	ClinGen:CA10585350,LDLR-LOVD, British Heart Foundation:LDLR_000839