Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60848491delCA4760293CHD7c.5211-24del (n.5211-24del)
c.1717-13738del (n.1717-13738del)
c.5301-24del (n.5301-24del)
c.3288-24del (n.3288-24del)
c.2838-24del (n.2838-24del)
c.2046-24del (n.2046-24del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848490_60848491delCA2846182880CHD7c.5211-25_5211-24del (n.5211-25_5211-24del)
c.1717-13739_1717-13738del (n.1717-13739_1717-13738del)
c.5301-25_5301-24del (n.5301-25_5301-24del)
c.3288-25_3288-24del (n.3288-25_3288-24del)
c.2838-25_2838-24del (n.2838-25_2838-24del)
c.2046-25_2046-24del (n.2046-25_2046-24del)
8g.60848491T>ACA4760302CHD7c.5211-24T>A (n.5211-24T>A)
c.1717-13738T>A (n.1717-13738T>A)
c.5301-24T>A (n.5301-24T>A)
c.3288-24T>A (n.3288-24T>A)
c.2838-24T>A (n.2838-24T>A)
c.2046-24T>A (n.2046-24T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848491T>CCA4760300CHD7c.5211-24T>C (n.5211-24T>C)
c.1717-13738T>C (n.1717-13738T>C)
c.5301-24T>C (n.5301-24T>C)
c.3288-24T>C (n.3288-24T>C)
c.2838-24T>C (n.2838-24T>C)
c.2046-24T>C (n.2046-24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848491T>GCA581980796CHD7c.5211-24T>G (n.5211-24T>G)
c.1717-13738T>G (n.1717-13738T>G)
c.5301-24T>G (n.5301-24T>G)
c.3288-24T>G (n.3288-24T>G)
c.2838-24T>G (n.2838-24T>G)
c.2046-24T>G (n.2046-24T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60848491T=CA1788133485CHD7c.5211-24T= (n.5211-24T=)
c.1717-13738T= (n.1717-13738T=)
c.5301-24T= (n.5301-24T=)
c.3288-24T= (n.3288-24T=)
c.2838-24T= (n.2838-24T=)
c.2046-24T= (n.2046-24T=)
8g.60848491_60848492delinsTCCA1788133489CHD7c.5211-24_5211-23delinsTC (n.5211-24_5211-23delinsTC)
c.1717-13738_1717-13737delinsTC (n.1717-13738_1717-13737delinsTC)
c.5301-24_5301-23delinsTC (n.5301-24_5301-23delinsTC)
c.3288-24_3288-23delinsTC (n.3288-24_3288-23delinsTC)
c.2838-24_2838-23delinsTC (n.2838-24_2838-23delinsTC)
c.2046-24_2046-23delinsTC (n.2046-24_2046-23delinsTC)
8g.60848492C>ACA2687402213CHD7c.5211-23C>A (n.5211-23C>A)
c.1717-13737C>A (n.1717-13737C>A)
c.5301-23C>A (n.5301-23C>A)
c.3288-23C>A (n.3288-23C>A)
c.2838-23C>A (n.2838-23C>A)
c.2046-23C>A (n.2046-23C>A)
 gnomAD v4
8g.60848492C>TCA2687402210CHD7c.5211-23C>T (n.5211-23C>T)
c.1717-13737C>T (n.1717-13737C>T)
c.5301-23C>T (n.5301-23C>T)
c.3288-23C>T (n.3288-23C>T)
c.2838-23C>T (n.2838-23C>T)
c.2046-23C>T (n.2046-23C>T)
 gnomAD v4
8g.60848497dupCA4760301CHD7c.5211-18dup (n.5211-18dup)
c.1717-13732dup (n.1717-13732dup)
c.5301-18dup (n.5301-18dup)
c.3288-18dup (n.3288-18dup)
c.2838-18dup (n.2838-18dup)
c.2046-18dup (n.2046-18dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848496_60848497dupCA2780535155CHD7c.5211-19_5211-18dup (n.5211-19_5211-18dup)
c.1717-13733_1717-13732dup (n.1717-13733_1717-13732dup)
c.5301-19_5301-18dup (n.5301-19_5301-18dup)
c.3288-19_3288-18dup (n.3288-19_3288-18dup)
c.2838-19_2838-18dup (n.2838-19_2838-18dup)
c.2046-19_2046-18dup (n.2046-19_2046-18dup)
8g.60848497delCA4760299CHD7c.5211-18del (n.5211-18del)
c.1717-13732del (n.1717-13732del)
c.5301-18del (n.5301-18del)
c.3288-18del (n.3288-18del)
c.2838-18del (n.2838-18del)
c.2046-18del (n.2046-18del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848493C>GCA2687402215CHD7c.5211-22C>G (n.5211-22C>G)
c.1717-13736C>G (n.1717-13736C>G)
c.5301-22C>G (n.5301-22C>G)
c.3288-22C>G (n.3288-22C>G)
c.2838-22C>G (n.2838-22C>G)
c.2046-22C>G (n.2046-22C>G)
 gnomAD v4
8g.60848494C>ACA2687402217CHD7c.5211-21C>A (n.5211-21C>A)
c.1717-13735C>A (n.1717-13735C>A)
c.5301-21C>A (n.5301-21C>A)
c.3288-21C>A (n.3288-21C>A)
c.2838-21C>A (n.2838-21C>A)
c.2046-21C>A (n.2046-21C>A)
 gnomAD v4
8g.60848494C>TCA2780535156CHD7c.5211-21C>T (n.5211-21C>T)
c.1717-13735C>T (n.1717-13735C>T)
c.5301-21C>T (n.5301-21C>T)
c.3288-21C>T (n.3288-21C>T)
c.2838-21C>T (n.2838-21C>T)
c.2046-21C>T (n.2046-21C>T)
8g.60848494_60848495insTGAACA2687402219CHD7c.5211-21_5211-20insTGAA (n.5211-21_5211-20insTGAA)
c.1717-13735_1717-13734insTGAA (n.1717-13735_1717-13734insTGAA)
c.5301-21_5301-20insTGAA (n.5301-21_5301-20insTGAA)
c.3288-21_3288-20insTGAA (n.3288-21_3288-20insTGAA)
c.2838-21_2838-20insTGAA (n.2838-21_2838-20insTGAA)
c.2046-21_2046-20insTGAA (n.2046-21_2046-20insTGAA)
 gnomAD v4
8g.60848495C>ACA2687402220CHD7c.5211-20C>A (n.5211-20C>A)
c.1717-13734C>A (n.1717-13734C>A)
c.5301-20C>A (n.5301-20C>A)
c.3288-20C>A (n.3288-20C>A)
c.2838-20C>A (n.2838-20C>A)
c.2046-20C>A (n.2046-20C>A)
 gnomAD v4
8g.60848495C=CA1788133503CHD7c.5211-20C= (n.5211-20C=)
c.1717-13734C= (n.1717-13734C=)
c.5301-20C= (n.5301-20C=)
c.3288-20C= (n.3288-20C=)
c.2838-20C= (n.2838-20C=)
c.2046-20C= (n.2046-20C=)
8g.60848495C>GCA1788133506CHD7c.5211-20C>G (n.5211-20C>G)
c.1717-13734C>G (n.1717-13734C>G)
c.5301-20C>G (n.5301-20C>G)
c.3288-20C>G (n.3288-20C>G)
c.2838-20C>G (n.2838-20C>G)
c.2046-20C>G (n.2046-20C>G)
 dbSNP
8g.60848495C>TCA2687402221CHD7c.5211-20C>T (n.5211-20C>T)
c.1717-13734C>T (n.1717-13734C>T)
c.5301-20C>T (n.5301-20C>T)
c.3288-20C>T (n.3288-20C>T)
c.2838-20C>T (n.2838-20C>T)
c.2046-20C>T (n.2046-20C>T)
 gnomAD v4
8g.60848496C>ACA4760303CHD7c.5211-19C>A (n.5211-19C>A)
c.1717-13733C>A (n.1717-13733C>A)
c.5301-19C>A (n.5301-19C>A)
c.3288-19C>A (n.3288-19C>A)
c.2838-19C>A (n.2838-19C>A)
c.2046-19C>A (n.2046-19C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848496C=CA1788133520CHD7c.5211-19C= (n.5211-19C=)
c.1717-13733C= (n.1717-13733C=)
c.5301-19C= (n.5301-19C=)
c.3288-19C= (n.3288-19C=)
c.2838-19C= (n.2838-19C=)
c.2046-19C= (n.2046-19C=)
8g.60848496C>GCA177352352CHD7c.5211-19C>G (n.5211-19C>G)
c.1717-13733C>G (n.1717-13733C>G)
c.5301-19C>G (n.5301-19C>G)
c.3288-19C>G (n.3288-19C>G)
c.2838-19C>G (n.2838-19C>G)
c.2046-19C>G (n.2046-19C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60848496C>TCA853908267CHD7c.5211-19C>T (n.5211-19C>T)
c.1717-13733C>T (n.1717-13733C>T)
c.5301-19C>T (n.5301-19C>T)
c.3288-19C>T (n.3288-19C>T)
c.2838-19C>T (n.2838-19C>T)
c.2046-19C>T (n.2046-19C>T)
 dbSNP gnomAD v4
8g.60848496_60848498delinsCCTCA1788133518CHD7c.5211-19_5211-17delinsCCT (n.5211-19_5211-17delinsCCT)
c.1717-13733_1717-13731delinsCCT (n.1717-13733_1717-13731delinsCCT)
c.5301-19_5301-17delinsCCT (n.5301-19_5301-17delinsCCT)
c.3288-19_3288-17delinsCCT (n.3288-19_3288-17delinsCCT)
c.2838-19_2838-17delinsCCT (n.2838-19_2838-17delinsCCT)
c.2046-19_2046-17delinsCCT (n.2046-19_2046-17delinsCCT)
8g.60848497C>ACA4760305CHD7c.5211-18C>A (n.5211-18C>A)
c.1717-13732C>A (n.1717-13732C>A)
c.5301-18C>A (n.5301-18C>A)
c.3288-18C>A (n.3288-18C>A)
c.2838-18C>A (n.2838-18C>A)
c.2046-18C>A (n.2046-18C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848497C=CA1788133526CHD7c.5211-18C= (n.5211-18C=)
c.1717-13732C= (n.1717-13732C=)
c.5301-18C= (n.5301-18C=)
c.3288-18C= (n.3288-18C=)
c.2838-18C= (n.2838-18C=)
c.2046-18C= (n.2046-18C=)
8g.60848497C>GCA177352357CHD7c.5211-18C>G (n.5211-18C>G)
c.1717-13732C>G (n.1717-13732C>G)
c.5301-18C>G (n.5301-18C>G)
c.3288-18C>G (n.3288-18C>G)
c.2838-18C>G (n.2838-18C>G)
c.2046-18C>G (n.2046-18C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60848497C>TCA1788133527CHD7c.5211-18C>T (n.5211-18C>T)
c.1717-13732C>T (n.1717-13732C>T)
c.5301-18C>T (n.5301-18C>T)
c.3288-18C>T (n.3288-18C>T)
c.2838-18C>T (n.2838-18C>T)
c.2046-18C>T (n.2046-18C>T)
 ClinVar dbSNP gnomAD v4
8g.60848499_60848500delCA4760304CHD7c.5211-16_5211-15del (n.5211-16_5211-15del)
c.1717-13730_1717-13729del (n.1717-13730_1717-13729del)
c.5301-16_5301-15del (n.5301-16_5301-15del)
c.3288-16_3288-15del (n.3288-16_3288-15del)
c.2838-16_2838-15del (n.2838-16_2838-15del)
c.2046-16_2046-15del (n.2046-16_2046-15del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848497_60848498insACA2846182881CHD7c.5211-18_5211-17insA (n.5211-18_5211-17insA)
c.1717-13732_1717-13731insA (n.1717-13732_1717-13731insA)
c.5301-18_5301-17insA (n.5301-18_5301-17insA)
c.3288-18_3288-17insA (n.3288-18_3288-17insA)
c.2838-18_2838-17insA (n.2838-18_2838-17insA)
c.2046-18_2046-17insA (n.2046-18_2046-17insA)
8g.60848498T>ACA2580078471CHD7c.5211-17T>A (n.5211-17T>A)
c.1717-13731T>A (n.1717-13731T>A)
c.5301-17T>A (n.5301-17T>A)
c.3288-17T>A (n.3288-17T>A)
c.2838-17T>A (n.2838-17T>A)
c.2046-17T>A (n.2046-17T>A)
 ClinVar gnomAD v4
8g.60848498T>CCA1114432306CHD7c.5211-17T>C (n.5211-17T>C)
c.1717-13731T>C (n.1717-13731T>C)
c.5301-17T>C (n.5301-17T>C)
c.3288-17T>C (n.3288-17T>C)
c.2838-17T>C (n.2838-17T>C)
c.2046-17T>C (n.2046-17T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60848498T=CA1788133528CHD7c.5211-17T= (n.5211-17T=)
c.1717-13731T= (n.1717-13731T=)
c.5301-17T= (n.5301-17T=)
c.3288-17T= (n.3288-17T=)
c.2838-17T= (n.2838-17T=)
c.2046-17T= (n.2046-17T=)
8g.60848499C>ACA2687402262CHD7c.5211-16C>A (n.5211-16C>A)
c.1717-13730C>A (n.1717-13730C>A)
c.5301-16C>A (n.5301-16C>A)
c.3288-16C>A (n.3288-16C>A)
c.2838-16C>A (n.2838-16C>A)
c.2046-16C>A (n.2046-16C>A)
 gnomAD v4
8g.60848499C>TCA2579173706CHD7c.5211-16C>T (n.5211-16C>T)
c.1717-13730C>T (n.1717-13730C>T)
c.5301-16C>T (n.5301-16C>T)
c.3288-16C>T (n.3288-16C>T)
c.2838-16C>T (n.2838-16C>T)
c.2046-16C>T (n.2046-16C>T)
 gnomAD v4
8g.60848500T>CCA2687402264CHD7c.5211-15T>C (n.5211-15T>C)
c.1717-13729T>C (n.1717-13729T>C)
c.5301-15T>C (n.5301-15T>C)
c.3288-15T>C (n.3288-15T>C)
c.2838-15T>C (n.2838-15T>C)
c.2046-15T>C (n.2046-15T>C)
 gnomAD v4
8g.60848501G>ACA581980806CHD7c.5211-14G>A (n.5211-14G>A)
c.1717-13728G>A (n.1717-13728G>A)
c.5301-14G>A (n.5301-14G>A)
c.3288-14G>A (n.3288-14G>A)
c.2838-14G>A (n.2838-14G>A)
c.2046-14G>A (n.2046-14G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60848501G>CCA177352360CHD7c.5211-14G>C (n.5211-14G>C)
c.1717-13728G>C (n.1717-13728G>C)
c.5301-14G>C (n.5301-14G>C)
c.3288-14G>C (n.3288-14G>C)
c.2838-14G>C (n.2838-14G>C)
c.2046-14G>C (n.2046-14G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60848501G=CA1788133530CHD7c.5211-14G= (n.5211-14G=)
c.1717-13728G= (n.1717-13728G=)
c.5301-14G= (n.5301-14G=)
c.3288-14G= (n.3288-14G=)
c.2838-14G= (n.2838-14G=)
c.2046-14G= (n.2046-14G=)
8g.60848502T>CCA177352363CHD7c.5211-13T>C (n.5211-13T>C)
c.1717-13727T>C (n.1717-13727T>C)
c.5301-13T>C (n.5301-13T>C)
c.3288-13T>C (n.3288-13T>C)
c.2838-13T>C (n.2838-13T>C)
c.2046-13T>C (n.2046-13T>C)
 dbSNP
8g.60848502T=CA1788133532CHD7c.5211-13T= (n.5211-13T=)
c.1717-13727T= (n.1717-13727T=)
c.5301-13T= (n.5301-13T=)
c.3288-13T= (n.3288-13T=)
c.2838-13T= (n.2838-13T=)
c.2046-13T= (n.2046-13T=)
8g.60848503C=CA1788133534CHD7c.5211-12C= (n.5211-12C=)
c.1717-13726C= (n.1717-13726C=)
c.5301-12C= (n.5301-12C=)
c.3288-12C= (n.3288-12C=)
c.2838-12C= (n.2838-12C=)
c.2046-12C= (n.2046-12C=)
8g.60848503C>TCA4760306CHD7c.5211-12C>T (n.5211-12C>T)
c.1717-13726C>T (n.1717-13726C>T)
c.5301-12C>T (n.5301-12C>T)
c.3288-12C>T (n.3288-12C>T)
c.2838-12C>T (n.2838-12C>T)
c.2046-12C>T (n.2046-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848504T>CCA2687402276CHD7c.5211-11T>C (n.5211-11T>C)
c.1717-13725T>C (n.1717-13725T>C)
c.5301-11T>C (n.5301-11T>C)
c.3288-11T>C (n.3288-11T>C)
c.2838-11T>C (n.2838-11T>C)
c.2046-11T>C (n.2046-11T>C)
 gnomAD v4
8g.60848504T>GCA10631403CHD7c.5211-11T>G (n.5211-11T>G)
c.1717-13725T>G (n.1717-13725T>G)
c.5301-11T>G (n.5301-11T>G)
c.3288-11T>G (n.3288-11T>G)
c.2838-11T>G (n.2838-11T>G)
c.2046-11T>G (n.2046-11T>G)
 ClinVar dbSNP
8g.60848504T=CA1788133537CHD7c.5211-11T= (n.5211-11T=)
c.1717-13725T= (n.1717-13725T=)
c.5301-11T= (n.5301-11T=)
c.3288-11T= (n.3288-11T=)
c.2838-11T= (n.2838-11T=)
c.2046-11T= (n.2046-11T=)
8g.60848506C>TCA2687402278CHD7c.5211-9C>T (n.5211-9C>T)
c.1717-13723C>T (n.1717-13723C>T)
c.5301-9C>T (n.5301-9C>T)
c.3288-9C>T (n.3288-9C>T)
c.2838-9C>T (n.2838-9C>T)
c.2046-9C>T (n.2046-9C>T)
 gnomAD v4
8g.60848507C>ACA2687402280CHD7c.5211-8C>A (n.5211-8C>A)
c.1717-13722C>A (n.1717-13722C>A)
c.5301-8C>A (n.5301-8C>A)
c.3288-8C>A (n.3288-8C>A)
c.2838-8C>A (n.2838-8C>A)
c.2046-8C>A (n.2046-8C>A)
 gnomAD v4
8g.60848509C=CA1788133540CHD7c.5211-6C= (n.5211-6C=)
c.1717-13720C= (n.1717-13720C=)
c.5301-6C= (n.5301-6C=)
c.3288-6C= (n.3288-6C=)
c.2838-6C= (n.2838-6C=)
c.2046-6C= (n.2046-6C=)
8g.60848509C>GCA2780535169CHD7c.5211-6C>G (n.5211-6C>G)
c.1717-13720C>G (n.1717-13720C>G)
c.5301-6C>G (n.5301-6C>G)
c.3288-6C>G (n.3288-6C>G)
c.2838-6C>G (n.2838-6C>G)
c.2046-6C>G (n.2046-6C>G)
8g.60848509C>TCA581980809CHD7c.5211-6C>T (n.5211-6C>T)
c.1717-13720C>T (n.1717-13720C>T)
c.5301-6C>T (n.5301-6C>T)
c.3288-6C>T (n.3288-6C>T)
c.2838-6C>T (n.2838-6C>T)
c.2046-6C>T (n.2046-6C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.60848509_60848528delinsCTCCAGGGTCCTGCTGCGTGCA1788133542CHD7c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG
c.1717-13720_1717-13701delinsCTCCAGGGTCCTGCTGCGTG (n.1717-13720_1717-13701delinsCTCCAGGGTCCTGCTGCGTG)
c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG
c.3288-6_3301delinsCTCCAGGGTCCTGCTGCGTG
c.2838-6_2851delinsCTCCAGGGTCCTGCTGCGTG
c.2046-6_2059delinsCTCCAGGGTCCTGCTGCGTG
8g.60848510_60848511delinsTCCA1788133553CHD7c.5211-5_5211-4delinsTC (n.5211-5_5211-4delinsTC)
c.1717-13719_1717-13718delinsTC (n.1717-13719_1717-13718delinsTC)
c.5301-5_5301-4delinsTC (n.5301-5_5301-4delinsTC)
c.3288-5_3288-4delinsTC (n.3288-5_3288-4delinsTC)
c.2838-5_2838-4delinsTC (n.2838-5_2838-4delinsTC)
c.2046-5_2046-4delinsTC (n.2046-5_2046-4delinsTC)
8g.60848513_60848531delCA1139660563CHD7c.5211-2_5227del
c.1717-13716_1717-13698del (n.1717-13716_1717-13698del)
c.5301-2_5317del
c.3288-2_3304del
c.2838-2_2854del
c.2046-2_2062del
 ClinVar dbSNP
8g.60848511C=CA1788133567CHD7c.5211-4C= (n.5211-4C=)
c.1717-13718C= (n.1717-13718C=)
c.5301-4C= (n.5301-4C=)
c.3288-4C= (n.3288-4C=)
c.2838-4C= (n.2838-4C=)
c.2046-4C= (n.2046-4C=)
8g.60848511C>GCA1788133568CHD7c.5211-4C>G (n.5211-4C>G)
c.1717-13718C>G (n.1717-13718C>G)
c.5301-4C>G (n.5301-4C>G)
c.3288-4C>G (n.3288-4C>G)
c.2838-4C>G (n.2838-4C>G)
c.2046-4C>G (n.2046-4C>G)
 dbSNP
8g.60848512delCA915945700CHD7c.5211-3del (n.5211-3del)
c.1717-13717del (n.1717-13717del)
c.5301-3del (n.5301-3del)
c.3288-3del (n.3288-3del)
c.2838-3del (n.2838-3del)
c.2046-3del (n.2046-3del)
 ClinVar dbSNP
8g.60848512C>ACA645557429CHD7c.5211-3C>A (n.5211-3C>A)
c.1717-13717C>A (n.1717-13717C>A)
c.5301-3C>A (n.5301-3C>A)
c.3288-3C>A (n.3288-3C>A)
c.2838-3C>A (n.2838-3C>A)
c.2046-3C>A (n.2046-3C>A)
 COSMIC
8g.60848513A=CA1788133573CHD7c.5211-2A= (n.5211-2A=)
c.1717-13716A= (n.1717-13716A=)
c.5301-2A= (n.5301-2A=)
c.3288-2A= (n.3288-2A=)
c.2838-2A= (n.2838-2A=)
c.2046-2A= (n.2046-2A=)
8g.60848513A>CCA371320754CHD7c.5211-2A>C (n.5211-2A>C)
c.1717-13716A>C (n.1717-13716A>C)
c.5301-2A>C (n.5301-2A>C)
c.3288-2A>C (n.3288-2A>C)
c.2838-2A>C (n.2838-2A>C)
c.2046-2A>C (n.2046-2A>C)
8g.60848513A>GCA371320755CHD7c.5211-2A>G (n.5211-2A>G)
c.1717-13716A>G (n.1717-13716A>G)
c.5301-2A>G (n.5301-2A>G)
c.3288-2A>G (n.3288-2A>G)
c.2838-2A>G (n.2838-2A>G)
c.2046-2A>G (n.2046-2A>G)
 ClinVar dbSNP
8g.60848513A>TCA371320756CHD7c.5211-2A>T (n.5211-2A>T)
c.1717-13716A>T (n.1717-13716A>T)
c.5301-2A>T (n.5301-2A>T)
c.3288-2A>T (n.3288-2A>T)
c.2838-2A>T (n.2838-2A>T)
c.2046-2A>T (n.2046-2A>T)
8g.60848514G>ACA371320757CHD7c.5211-1G>A (n.5211-1G>A)
c.1717-13715G>A (n.1717-13715G>A)
c.5301-1G>A (n.5301-1G>A)
c.3288-1G>A (n.3288-1G>A)
c.2838-1G>A (n.2838-1G>A)
c.2046-1G>A (n.2046-1G>A)
8g.60848514G>CCA16612520CHD7c.5211-1G>C (n.5211-1G>C)
c.1717-13715G>C (n.1717-13715G>C)
c.5301-1G>C (n.5301-1G>C)
c.3288-1G>C (n.3288-1G>C)
c.2838-1G>C (n.2838-1G>C)
c.2046-1G>C (n.2046-1G>C)
 ClinVar dbSNP
8g.60848514G=CA1788133579CHD7c.5211-1G= (n.5211-1G=)
c.1717-13715G= (n.1717-13715G=)
c.5301-1G= (n.5301-1G=)
c.3288-1G= (n.3288-1G=)
c.2838-1G= (n.2838-1G=)
c.2046-1G= (n.2046-1G=)
8g.60848514G>TCA371320758CHD7c.5211-1G>T (n.5211-1G>T)
c.1717-13715G>T (n.1717-13715G>T)
c.5301-1G>T (n.5301-1G>T)
c.3288-1G>T (n.3288-1G>T)
c.2838-1G>T (n.2838-1G>T)
c.2046-1G>T (n.2046-1G>T)
 COSMIC
8g.60848515G>ACA460848364CHD7c.5211G>A (p.Lys1737=)
c.1717-13714G>A (n.1717-13714G>A)
c.5301G>A (p.Trp1767Ter)
c.3288G>A (p.Trp1096Ter)
c.2838G>A (p.Trp946Ter)
c.2046G>A (p.Trp682Ter)
 gnomAD v4
8g.60848515G>CCA371320759CHD7c.5211G>C (p.Lys1737Asn)
c.1717-13714G>C (n.1717-13714G>C)
c.5301G>C (p.Trp1767Cys)
c.3288G>C (p.Trp1096Cys)
c.2838G>C (p.Trp946Cys)
c.2046G>C (p.Trp682Cys)
8g.60848515G>TCA371320760CHD7c.5211G>T (p.Lys1737Asn)
c.1717-13714G>T (n.1717-13714G>T)
c.5301G>T (p.Trp1767Cys)
c.3288G>T (p.Trp1096Cys)
c.2838G>T (p.Trp946Cys)
c.2046G>T (p.Trp682Cys)
8g.60848516G>ACA371320763CHD7c.5212G>A (p.Val1738Ile)
c.1717-13713G>A (n.1717-13713G>A)
c.5302G>A (p.Val1768Ile)
c.3289G>A (p.Val1097Ile)
c.2839G>A (p.Val947Ile)
c.2047G>A (p.Val683Ile)
8g.60848516G>CCA371320762CHD7c.5212G>C (p.Val1738Leu)
c.1717-13713G>C (n.1717-13713G>C)
c.5302G>C (p.Val1768Leu)
c.3289G>C (p.Val1097Leu)
c.2839G>C (p.Val947Leu)
c.2047G>C (p.Val683Leu)
8g.60848516G>TCA371320761CHD7c.5212G>T (p.Val1738Phe)
c.1717-13713G>T (n.1717-13713G>T)
c.5302G>T (p.Val1768Phe)
c.3289G>T (p.Val1097Phe)
c.2839G>T (p.Val947Phe)
c.2047G>T (p.Val683Phe)
8g.60848517T>ACA371320764CHD7c.5213T>A (p.Val1738Asp)
c.1717-13712T>A (n.1717-13712T>A)
c.5303T>A (p.Val1768Asp)
c.3290T>A (p.Val1097Asp)
c.2840T>A (p.Val947Asp)
c.2048T>A (p.Val683Asp)
8g.60848517T>CCA371320765CHD7c.5213T>C (p.Val1738Ala)
c.1717-13712T>C (n.1717-13712T>C)
c.5303T>C (p.Val1768Ala)
c.3290T>C (p.Val1097Ala)
c.2840T>C (p.Val947Ala)
c.2048T>C (p.Val683Ala)
8g.60848517T>GCA371320766CHD7c.5213T>G (p.Val1738Gly)
c.1717-13712T>G (n.1717-13712T>G)
c.5303T>G (p.Val1768Gly)
c.3290T>G (p.Val1097Gly)
c.2840T>G (p.Val947Gly)
c.2048T>G (p.Val683Gly)
8g.60848518C>ACA460848366CHD7c.5214C>A (p.Val1738=)
c.1717-13711C>A (n.1717-13711C>A)
c.5304C>A (p.Val1768=)
c.3291C>A (p.Val1097=)
c.2841C>A (p.Val947=)
c.2049C>A (p.Val683=)
8g.60848518C=CA1788133590CHD7c.5214C= (p.Val1738=)
c.1717-13711C= (n.1717-13711C=)
c.5304C= (p.Val1768=)
c.3291C= (p.Val1097=)
c.2841C= (p.Val947=)
c.2049C= (p.Val683=)
8g.60848518C>GCA460848365CHD7c.5214C>G (p.Val1738=)
c.1717-13711C>G (n.1717-13711C>G)
c.5304C>G (p.Val1768=)
c.3291C>G (p.Val1097=)
c.2841C>G (p.Val947=)
c.2049C>G (p.Val683=)
8g.60848518C>TCA4760307CHD7c.5214C>T (p.Val1738=)
c.1717-13711C>T (n.1717-13711C>T)
c.5304C>T (p.Val1768=)
c.3291C>T (p.Val1097=)
c.2841C>T (p.Val947=)
c.2049C>T (p.Val683=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848519C>ACA371320767CHD7c.5215C>A (p.Leu1739Met)
c.1717-13710C>A (n.1717-13710C>A)
c.5305C>A (p.Leu1769Met)
c.3292C>A (p.Leu1098Met)
c.2842C>A (p.Leu948Met)
c.2050C>A (p.Leu684Met)
8g.60848519C=CA1788133594CHD7c.5215C= (p.Leu1739=)
c.1717-13710C= (n.1717-13710C=)
c.5305C= (p.Leu1769=)
c.3292C= (p.Leu1098=)
c.2842C= (p.Leu948=)
c.2050C= (p.Leu684=)
8g.60848519C>GCA371320768CHD7c.5215C>G (p.Leu1739Val)
c.1717-13710C>G (n.1717-13710C>G)
c.5305C>G (p.Leu1769Val)
c.3292C>G (p.Leu1098Val)
c.2842C>G (p.Leu948Val)
c.2050C>G (p.Leu684Val)
8g.60848519C>TCA4760308CHD7c.5215C>T (p.Leu1739=)
c.1717-13710C>T (n.1717-13710C>T)
c.5305C>T (p.Leu1769=)
c.3292C>T (p.Leu1098=)
c.2842C>T (p.Leu948=)
c.2050C>T (p.Leu684=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848520T>ACA371320769CHD7c.5216T>A (p.Leu1739Gln)
c.1717-13709T>A (n.1717-13709T>A)
c.5306T>A (p.Leu1769Gln)
c.3293T>A (p.Leu1098Gln)
c.2843T>A (p.Leu948Gln)
c.2051T>A (p.Leu684Gln)
8g.60848520T>CCA371320770CHD7c.5216T>C (p.Leu1739Pro)
c.1717-13709T>C (n.1717-13709T>C)
c.5306T>C (p.Leu1769Pro)
c.3293T>C (p.Leu1098Pro)
c.2843T>C (p.Leu948Pro)
c.2051T>C (p.Leu684Pro)
8g.60848520T>GCA371320771CHD7c.5216T>G (p.Leu1739Arg)
c.1717-13709T>G (n.1717-13709T>G)
c.5306T>G (p.Leu1769Arg)
c.3293T>G (p.Leu1098Arg)
c.2843T>G (p.Leu948Arg)
c.2051T>G (p.Leu684Arg)
8g.60848521G>ACA460848367CHD7c.5217G>A (p.Leu1739=)
c.1717-13708G>A (n.1717-13708G>A)
c.5307G>A (p.Leu1769=)
c.3294G>A (p.Leu1098=)
c.2844G>A (p.Leu948=)
c.2052G>A (p.Leu684=)
8g.60848521G>CCA460848368CHD7c.5217G>C (p.Leu1739=)
c.1717-13708G>C (n.1717-13708G>C)
c.5307G>C (p.Leu1769=)
c.3294G>C (p.Leu1098=)
c.2844G>C (p.Leu948=)
c.2052G>C (p.Leu684=)
8g.60848521G>TCA460848369CHD7c.5217G>T (p.Leu1739=)
c.1717-13708G>T (n.1717-13708G>T)
c.5307G>T (p.Leu1769=)
c.3294G>T (p.Leu1098=)
c.2844G>T (p.Leu948=)
c.2052G>T (p.Leu684=)
8g.60848522C>ACA371320772CHD7c.5218C>A (p.Leu1740Met)
c.1717-13707C>A (n.1717-13707C>A)
c.5308C>A (p.Leu1770Met)
c.3295C>A (p.Leu1099Met)
c.2845C>A (p.Leu949Met)
c.2053C>A (p.Leu685Met)
8g.60848522C=CA1788133599CHD7c.5218C= (p.Leu1740=)
c.1717-13707C= (n.1717-13707C=)
c.5308C= (p.Leu1770=)
c.3295C= (p.Leu1099=)
c.2845C= (p.Leu949=)
c.2053C= (p.Leu685=)
8g.60848522C>GCA371320773CHD7c.5218C>G (p.Leu1740Val)
c.1717-13707C>G (n.1717-13707C>G)
c.5308C>G (p.Leu1770Val)
c.3295C>G (p.Leu1099Val)
c.2845C>G (p.Leu949Val)
c.2053C>G (p.Leu685Val)
8g.60848522C>TCA460848370CHD7c.5218C>T (p.Leu1740=)
c.1717-13707C>T (n.1717-13707C>T)
c.5308C>T (p.Leu1770=)
c.3295C>T (p.Leu1099=)
c.2845C>T (p.Leu949=)
c.2053C>T (p.Leu685=)
 ClinVar dbSNP
8g.60848523T>ACA371320776CHD7c.5219T>A (p.Leu1740Gln)
c.1717-13706T>A (n.1717-13706T>A)
c.5309T>A (p.Leu1770Gln)
c.3296T>A (p.Leu1099Gln)
c.2846T>A (p.Leu949Gln)
c.2054T>A (p.Leu685Gln)
8g.60848523T>CCA371320774CHD7c.5219T>C (p.Leu1740Pro)
c.1717-13706T>C (n.1717-13706T>C)
c.5309T>C (p.Leu1770Pro)
c.3296T>C (p.Leu1099Pro)
c.2846T>C (p.Leu949Pro)
c.2054T>C (p.Leu685Pro)
8g.60848523T>GCA371320775CHD7c.5219T>G (p.Leu1740Arg)
c.1717-13706T>G (n.1717-13706T>G)
c.5309T>G (p.Leu1770Arg)
c.3296T>G (p.Leu1099Arg)
c.2846T>G (p.Leu949Arg)
c.2054T>G (p.Leu685Arg)
8g.60848524G>ACA460848371CHD7c.5220G>A (p.Leu1740=)
c.1717-13705G>A (n.1717-13705G>A)
c.5310G>A (p.Leu1770=)
c.3297G>A (p.Leu1099=)
c.2847G>A (p.Leu949=)
c.2055G>A (p.Leu685=)
8g.60848524G>CCA460848372CHD7c.5220G>C (p.Leu1740=)
c.1717-13705G>C (n.1717-13705G>C)
c.5310G>C (p.Leu1770=)
c.3297G>C (p.Leu1099=)
c.2847G>C (p.Leu949=)
c.2055G>C (p.Leu685=)
8g.60848524G>TCA460848373CHD7c.5220G>T (p.Leu1740=)
c.1717-13705G>T (n.1717-13705G>T)
c.5310G>T (p.Leu1770=)
c.3297G>T (p.Leu1099=)
c.2847G>T (p.Leu949=)
c.2055G>T (p.Leu685=)
8g.60848525C>ACA371320777CHD7c.5221C>A (p.Arg1741Ser)
c.1717-13704C>A (n.1717-13704C>A)
c.5311C>A (p.Arg1771Ser)
c.3298C>A (p.Arg1100Ser)
c.2848C>A (p.Arg950Ser)
c.2056C>A (p.Arg686Ser)
8g.60848525C>GCA371320778CHD7c.5221C>G (p.Arg1741Gly)
c.1717-13704C>G (n.1717-13704C>G)
c.5311C>G (p.Arg1771Gly)
c.3298C>G (p.Arg1100Gly)
c.2848C>G (p.Arg950Gly)
c.2056C>G (p.Arg686Gly)
 COSMIC
8g.60848525C>TCA371320779CHD7c.5221C>T (p.Arg1741Cys)
c.1717-13704C>T (n.1717-13704C>T)
c.5311C>T (p.Arg1771Cys)
c.3298C>T (p.Arg1100Cys)
c.2848C>T (p.Arg950Cys)
c.2056C>T (p.Arg686Cys)
 ClinVar gnomAD v4
8g.60848526G>ACA371320780CHD7c.5222G>A (p.Arg1741His)
c.1717-13703G>A (n.1717-13703G>A)
c.5312G>A (p.Arg1771His)
c.3299G>A (p.Arg1100His)
c.2849G>A (p.Arg950His)
c.2057G>A (p.Arg686His)
 dbSNP gnomAD v2 gnomAD v4
8g.60848526G>CCA371320781CHD7c.5222G>C (p.Arg1741Pro)
c.1717-13703G>C (n.1717-13703G>C)
c.5312G>C (p.Arg1771Pro)
c.3299G>C (p.Arg1100Pro)
c.2849G>C (p.Arg950Pro)
c.2057G>C (p.Arg686Pro)
8g.60848526G=CA1788133603CHD7c.5222G= (p.Arg1741=)
c.1717-13703G= (n.1717-13703G=)
c.5312G= (p.Arg1771=)
c.3299G= (p.Arg1100=)
c.2849G= (p.Arg950=)
c.2057G= (p.Arg686=)
8g.60848526G>TCA371320782CHD7c.5222G>T (p.Arg1741Leu)
c.1717-13703G>T (n.1717-13703G>T)
c.5312G>T (p.Arg1771Leu)
c.3299G>T (p.Arg1100Leu)
c.2849G>T (p.Arg950Leu)
c.2057G>T (p.Arg686Leu)
8g.60848527T>ACA460848374CHD7c.5223T>A (p.Arg1741=)
c.1717-13702T>A (n.1717-13702T>A)
c.5313T>A (p.Arg1771=)
c.3300T>A (p.Arg1100=)
c.2850T>A (p.Arg950=)
c.2058T>A (p.Arg686=)
 dbSNP gnomAD v4
8g.60848527T>CCA460848375CHD7c.5223T>C (p.Arg1741=)
c.1717-13702T>C (n.1717-13702T>C)
c.5313T>C (p.Arg1771=)
c.3300T>C (p.Arg1100=)
c.2850T>C (p.Arg950=)
c.2058T>C (p.Arg686=)
8g.60848527T>GCA460848376CHD7c.5223T>G (p.Arg1741=)
c.1717-13702T>G (n.1717-13702T>G)
c.5313T>G (p.Arg1771=)
c.3300T>G (p.Arg1100=)
c.2850T>G (p.Arg950=)
c.2058T>G (p.Arg686=)
8g.60848527T=CA1788133609CHD7c.5223T= (p.Arg1741=)
c.1717-13702T= (n.1717-13702T=)
c.5313T= (p.Arg1771=)
c.3300T= (p.Arg1100=)
c.2850T= (p.Arg950=)
c.2058T= (p.Arg686=)
8g.60848528G>ACA4760309CHD7c.5224G>A (p.Val1742Ile)
c.1717-13701G>A (n.1717-13701G>A)
c.5314G>A (p.Val1772Ile)
c.3301G>A (p.Val1101Ile)
c.2851G>A (p.Val951Ile)
c.2059G>A (p.Val687Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60848528G>CCA371320783CHD7c.5224G>C (p.Val1742Leu)
c.1717-13701G>C (n.1717-13701G>C)
c.5314G>C (p.Val1772Leu)
c.3301G>C (p.Val1101Leu)
c.2851G>C (p.Val951Leu)
c.2059G>C (p.Val687Leu)
8g.60848528G=CA1788133614CHD7c.5224G= (p.Val1742=)
c.1717-13701G= (n.1717-13701G=)
c.5314G= (p.Val1772=)
c.3301G= (p.Val1101=)
c.2851G= (p.Val951=)
c.2059G= (p.Val687=)
8g.60848528G>TCA371320784CHD7c.5224G>T (p.Val1742Phe)
c.1717-13701G>T (n.1717-13701G>T)
c.5314G>T (p.Val1772Phe)
c.3301G>T (p.Val1101Phe)
c.2851G>T (p.Val951Phe)
c.2059G>T (p.Val687Phe)
8g.60848529T>ACA371320785CHD7c.5225T>A (p.Val1742Asp)
c.1717-13700T>A (n.1717-13700T>A)
c.5315T>A (p.Val1772Asp)
c.3302T>A (p.Val1101Asp)
c.2852T>A (p.Val951Asp)
c.2060T>A (p.Val687Asp)
8g.60848529T>CCA371320786CHD7c.5225T>C (p.Val1742Ala)
c.1717-13700T>C (n.1717-13700T>C)
c.5315T>C (p.Val1772Ala)
c.3302T>C (p.Val1101Ala)
c.2852T>C (p.Val951Ala)
c.2060T>C (p.Val687Ala)
8g.60848529T>GCA371320787CHD7c.5225T>G (p.Val1742Gly)
c.1717-13700T>G (n.1717-13700T>G)
c.5315T>G (p.Val1772Gly)
c.3302T>G (p.Val1101Gly)
c.2852T>G (p.Val951Gly)
c.2060T>G (p.Val687Gly)
8g.60848530C>ACA460848377CHD7c.5226C>A (p.Val1742=)
c.1717-13699C>A (n.1717-13699C>A)
c.5316C>A (p.Val1772=)
c.3303C>A (p.Val1101=)
c.2853C>A (p.Val951=)
c.2061C>A (p.Val687=)
8g.60848530C>GCA460848378CHD7c.5226C>G (p.Val1742=)
c.1717-13699C>G (n.1717-13699C>G)
c.5316C>G (p.Val1772=)
c.3303C>G (p.Val1101=)
c.2853C>G (p.Val951=)
c.2061C>G (p.Val687=)
8g.60848530C>TCA460848379CHD7c.5226C>T (p.Val1742=)
c.1717-13699C>T (n.1717-13699C>T)
c.5316C>T (p.Val1772=)
c.3303C>T (p.Val1101=)
c.2853C>T (p.Val951=)
c.2061C>T (p.Val687=)
8g.60848531C>ACA371320789CHD7c.5227C>A (p.Arg1743Ser)
c.1717-13698C>A (n.1717-13698C>A)
c.5317C>A (p.Arg1773Ser)
c.3304C>A (p.Arg1102Ser)
c.2854C>A (p.Arg952Ser)
c.2062C>A (p.Arg688Ser)
8g.60848531C=CA1788133618CHD7c.5227C= (p.Arg1743=)
c.1717-13698C= (n.1717-13698C=)
c.5317C= (p.Arg1773=)
c.3304C= (p.Arg1102=)
c.2854C= (p.Arg952=)
c.2062C= (p.Arg688=)
8g.60848531C>GCA371320790CHD7c.5227C>G (p.Arg1743Gly)
c.1717-13698C>G (n.1717-13698C>G)
c.5317C>G (p.Arg1773Gly)
c.3304C>G (p.Arg1102Gly)
c.2854C>G (p.Arg952Gly)
c.2062C>G (p.Arg688Gly)
8g.60848531C>TCA371320788CHD7c.5227C>T (p.Arg1743Cys)
c.1717-13698C>T (n.1717-13698C>T)
c.5317C>T (p.Arg1773Cys)
c.3304C>T (p.Arg1102Cys)
c.2854C>T (p.Arg952Cys)
c.2062C>T (p.Arg688Cys)
 ClinVar dbSNP gnomAD v4
8g.60848532G>ACA371320791CHD7c.5228G>A (p.Arg1743His)
c.1717-13697G>A (n.1717-13697G>A)
c.5318G>A (p.Arg1773His)
c.3305G>A (p.Arg1102His)
c.2855G>A (p.Arg952His)
c.2063G>A (p.Arg688His)
 gnomAD v4 COSMIC
8g.60848532G>CCA371320792CHD7c.5228G>C (p.Arg1743Pro)
c.1717-13697G>C (n.1717-13697G>C)
c.5318G>C (p.Arg1773Pro)
c.3305G>C (p.Arg1102Pro)
c.2855G>C (p.Arg952Pro)
c.2063G>C (p.Arg688Pro)
8g.60848532G>TCA371320793CHD7c.5228G>T (p.Arg1743Leu)
c.1717-13697G>T (n.1717-13697G>T)
c.5318G>T (p.Arg1773Leu)
c.3305G>T (p.Arg1102Leu)
c.2855G>T (p.Arg952Leu)
c.2063G>T (p.Arg688Leu)
8g.60848533C>ACA460848380CHD7c.5229C>A (p.Arg1743=)
c.1717-13696C>A (n.1717-13696C>A)
c.5319C>A (p.Arg1773=)
c.3306C>A (p.Arg1102=)
c.2856C>A (p.Arg952=)
c.2064C>A (p.Arg688=)
8g.60848533C>GCA460848381CHD7c.5229C>G (p.Arg1743=)
c.1717-13696C>G (n.1717-13696C>G)
c.5319C>G (p.Arg1773=)
c.3306C>G (p.Arg1102=)
c.2856C>G (p.Arg952=)
c.2064C>G (p.Arg688=)
8g.60848533C>TCA460848382CHD7c.5229C>T (p.Arg1743=)
c.1717-13696C>T (n.1717-13696C>T)
c.5319C>T (p.Arg1773=)
c.3306C>T (p.Arg1102=)
c.2856C>T (p.Arg952=)
c.2064C>T (p.Arg688=)
8g.60848534A=CA1788133628CHD7c.5230A= (p.Met1744=)
c.1717-13695A= (n.1717-13695A=)
c.5320A= (p.Met1774=)
c.3307A= (p.Met1103=)
c.2857A= (p.Met953=)
c.2065A= (p.Met689=)
8g.60848534A>CCA371320794CHD7c.5230A>C (p.Met1744Leu)
c.1717-13695A>C (n.1717-13695A>C)
c.5320A>C (p.Met1774Leu)
c.3307A>C (p.Met1103Leu)
c.2857A>C (p.Met953Leu)
c.2065A>C (p.Met689Leu)
8g.60848534A>GCA4760310CHD7c.5230A>G (p.Met1744Val)
c.1717-13695A>G (n.1717-13695A>G)
c.5320A>G (p.Met1774Val)
c.3307A>G (p.Met1103Val)
c.2857A>G (p.Met953Val)
c.2065A>G (p.Met689Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60848534A>TCA371320795CHD7c.5230A>T (p.Met1744Leu)
c.1717-13695A>T (n.1717-13695A>T)
c.5320A>T (p.Met1774Leu)
c.3307A>T (p.Met1103Leu)
c.2857A>T (p.Met953Leu)
c.2065A>T (p.Met689Leu)
8g.60848535T>ACA371320798CHD7c.5231T>A (p.Met1744Lys)
c.1717-13694T>A (n.1717-13694T>A)
c.5321T>A (p.Met1774Lys)
c.3308T>A (p.Met1103Lys)
c.2858T>A (p.Met953Lys)
c.2066T>A (p.Met689Lys)
8g.60848535T>CCA371320796CHD7c.5231T>C (p.Met1744Thr)
c.1717-13694T>C (n.1717-13694T>C)
c.5321T>C (p.Met1774Thr)
c.3308T>C (p.Met1103Thr)
c.2858T>C (p.Met953Thr)
c.2066T>C (p.Met689Thr)
8g.60848535T>GCA371320797CHD7c.5231T>G (p.Met1744Arg)
c.1717-13694T>G (n.1717-13694T>G)
c.5321T>G (p.Met1774Arg)
c.3308T>G (p.Met1103Arg)
c.2858T>G (p.Met953Arg)
c.2066T>G (p.Met689Arg)
8g.60848536G>ACA371320799CHD7c.5232G>A (p.Met1744Ile)
c.1717-13693G>A (n.1717-13693G>A)
c.5322G>A (p.Met1774Ile)
c.3309G>A (p.Met1103Ile)
c.2859G>A (p.Met953Ile)
c.2067G>A (p.Met689Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.60848536G>CCA371320800CHD7c.5232G>C (p.Met1744Ile)
c.1717-13693G>C (n.1717-13693G>C)
c.5322G>C (p.Met1774Ile)
c.3309G>C (p.Met1103Ile)
c.2859G>C (p.Met953Ile)
c.2067G>C (p.Met689Ile)
8g.60848536G=CA1788133634CHD7c.5232G= (p.Met1744=)
c.1717-13693G= (n.1717-13693G=)
c.5322G= (p.Met1774=)
c.3309G= (p.Met1103=)
c.2859G= (p.Met953=)
c.2067G= (p.Met689=)
8g.60848536G>TCA371320801CHD7c.5232G>T (p.Met1744Ile)
c.1717-13693G>T (n.1717-13693G>T)
c.5322G>T (p.Met1774Ile)
c.3309G>T (p.Met1103Ile)
c.2859G>T (p.Met953Ile)
c.2067G>T (p.Met689Ile)
8g.60848537C>ACA371320802CHD7c.5233C>A (p.Leu1745Met)
c.1717-13692C>A (n.1717-13692C>A)
c.5323C>A (p.Leu1775Met)
c.3310C>A (p.Leu1104Met)
c.2860C>A (p.Leu954Met)
c.2068C>A (p.Leu690Met)
8g.60848537C=CA1788133637CHD7c.5233C= (p.Leu1745=)
c.1717-13692C= (n.1717-13692C=)
c.5323C= (p.Leu1775=)
c.3310C= (p.Leu1104=)
c.2860C= (p.Leu954=)
c.2068C= (p.Leu690=)
8g.60848537C>GCA371320803CHD7c.5233C>G (p.Leu1745Val)
c.1717-13692C>G (n.1717-13692C>G)
c.5323C>G (p.Leu1775Val)
c.3310C>G (p.Leu1104Val)
c.2860C>G (p.Leu954Val)
c.2068C>G (p.Leu690Val)
8g.60848537C>TCA460848383CHD7c.5233C>T (p.Leu1745=)
c.1717-13692C>T (n.1717-13692C>T)
c.5323C>T (p.Leu1775=)
c.3310C>T (p.Leu1104=)
c.2860C>T (p.Leu954=)
c.2068C>T (p.Leu690=)
8g.60848538T>ACA371320804CHD7c.5234T>A (p.Leu1745Gln)
c.1717-13691T>A (n.1717-13691T>A)
c.5324T>A (p.Leu1775Gln)
c.3311T>A (p.Leu1104Gln)
c.2861T>A (p.Leu954Gln)
c.2069T>A (p.Leu690Gln)
8g.60848538T>CCA371320806CHD7c.5234T>C (p.Leu1745Pro)
c.1717-13691T>C (n.1717-13691T>C)
c.5324T>C (p.Leu1775Pro)
c.3311T>C (p.Leu1104Pro)
c.2861T>C (p.Leu954Pro)
c.2069T>C (p.Leu690Pro)
8g.60848538T>GCA371320805CHD7c.5234T>G (p.Leu1745Arg)
c.1717-13691T>G (n.1717-13691T>G)
c.5324T>G (p.Leu1775Arg)
c.3311T>G (p.Leu1104Arg)
c.2861T>G (p.Leu954Arg)
c.2069T>G (p.Leu690Arg)
8g.60848539_60848540dupCA10602500CHD7c.5235_5236dup (p.Tyr1746CysfsTer4)
c.1717-13690_1717-13689dup (n.1717-13690_1717-13689dup)
c.5325_5326dup (p.Tyr1776CysfsTer4)
c.3312_3313dup (p.Tyr1105CysfsTer4)
c.2862_2863dup (p.Tyr955CysfsTer4)
c.2070_2071dup (p.Tyr691CysfsTer4)
 ClinVar dbSNP
8g.60848539G>ACA460848384CHD7c.5235G>A (p.Leu1745=)
c.1717-13690G>A (n.1717-13690G>A)
c.5325G>A (p.Leu1775=)
c.3312G>A (p.Leu1104=)
c.2862G>A (p.Leu954=)
c.2070G>A (p.Leu690=)
 dbSNP gnomAD v3 gnomAD v4
8g.60848539G>CCA460848385CHD7c.5235G>C (p.Leu1745=)
c.1717-13690G>C (n.1717-13690G>C)
c.5325G>C (p.Leu1775=)
c.3312G>C (p.Leu1104=)
c.2862G>C (p.Leu954=)
c.2070G>C (p.Leu690=)
 gnomAD v4
8g.60848539G=CA1788133654CHD7c.5235G= (p.Leu1745=)
c.1717-13690G= (n.1717-13690G=)
c.5325G= (p.Leu1775=)
c.3312G= (p.Leu1104=)
c.2862G= (p.Leu954=)
c.2070G= (p.Leu690=)
8g.60848539G>TCA460848386CHD7c.5235G>T (p.Leu1745=)
c.1717-13690G>T (n.1717-13690G>T)
c.5325G>T (p.Leu1775=)
c.3312G>T (p.Leu1104=)
c.2862G>T (p.Leu954=)
c.2070G>T (p.Leu690=)
 gnomAD v4
8g.60848540T>ACA371320807CHD7c.5236T>A (p.Tyr1746Asn)
c.1717-13689T>A (n.1717-13689T>A)
c.5326T>A (p.Tyr1776Asn)
c.3313T>A (p.Tyr1105Asn)
c.2863T>A (p.Tyr955Asn)
c.2071T>A (p.Tyr691Asn)
8g.60848540T>CCA371320808CHD7c.5236T>C (p.Tyr1746His)
c.1717-13689T>C (n.1717-13689T>C)
c.5326T>C (p.Tyr1776His)
c.3313T>C (p.Tyr1105His)
c.2863T>C (p.Tyr955His)
c.2071T>C (p.Tyr691His)
8g.60848540T>GCA371320809CHD7c.5236T>G (p.Tyr1746Asp)
c.1717-13689T>G (n.1717-13689T>G)
c.5326T>G (p.Tyr1776Asp)
c.3313T>G (p.Tyr1105Asp)
c.2863T>G (p.Tyr955Asp)
c.2071T>G (p.Tyr691Asp)
8g.60848541A>CCA371320810CHD7c.5237A>C (p.Tyr1746Ser)
c.1717-13688A>C (n.1717-13688A>C)
c.5327A>C (p.Tyr1776Ser)
c.3314A>C (p.Tyr1105Ser)
c.2864A>C (p.Tyr955Ser)
c.2072A>C (p.Tyr691Ser)
8g.60848541A>GCA371320811CHD7c.5237A>G (p.Tyr1746Cys)
c.1717-13688A>G (n.1717-13688A>G)
c.5327A>G (p.Tyr1776Cys)
c.3314A>G (p.Tyr1105Cys)
c.2864A>G (p.Tyr955Cys)
c.2072A>G (p.Tyr691Cys)
8g.60848541A>TCA371320812CHD7c.5237A>T (p.Tyr1746Phe)
c.1717-13688A>T (n.1717-13688A>T)
c.5327A>T (p.Tyr1776Phe)
c.3314A>T (p.Tyr1105Phe)
c.2864A>T (p.Tyr955Phe)
c.2072A>T (p.Tyr691Phe)
 gnomAD v4
8g.60848542C>ACA371320813CHD7c.5238C>A (p.Tyr1746Ter)
c.1717-13687C>A (n.1717-13687C>A)
c.5328C>A (p.Tyr1776Ter)
c.3315C>A (p.Tyr1105Ter)
c.2865C>A (p.Tyr955Ter)
c.2073C>A (p.Tyr691Ter)
8g.60848542C=CA1788133668CHD7c.5238C= (p.Tyr1746=)
c.1717-13687C= (n.1717-13687C=)
c.5328C= (p.Tyr1776=)
c.3315C= (p.Tyr1105=)
c.2865C= (p.Tyr955=)
c.2073C= (p.Tyr691=)
8g.60848542C>GCA371320814CHD7c.5238C>G (p.Tyr1746Ter)
c.1717-13687C>G (n.1717-13687C>G)
c.5328C>G (p.Tyr1776Ter)
c.3315C>G (p.Tyr1105Ter)
c.2865C>G (p.Tyr955Ter)
c.2073C>G (p.Tyr691Ter)
 ClinVar dbSNP
8g.60848542C>TCA460848387CHD7c.5238C>T (p.Tyr1746=)
c.1717-13687C>T (n.1717-13687C>T)
c.5328C>T (p.Tyr1776=)
c.3315C>T (p.Tyr1105=)
c.2865C>T (p.Tyr955=)
c.2073C>T (p.Tyr691=)
 gnomAD v4
8g.60848545_60848548delCA2695209739CHD7c.5241_5244del (p.Tyr1747Ter)
c.1717-13684_1717-13681del (n.1717-13684_1717-13681del)
c.5331_5334del (p.Tyr1777Ter)
c.3318_3321del (p.Tyr1106Ter)
c.2868_2871del (p.Tyr956Ter)
c.2076_2079del (p.Tyr692Ter)
8g.60848543T>ACA371320815CHD7c.5239T>A (p.Tyr1747Asn)
c.1717-13686T>A (n.1717-13686T>A)
c.5329T>A (p.Tyr1777Asn)
c.3316T>A (p.Tyr1106Asn)
c.2866T>A (p.Tyr956Asn)
c.2074T>A (p.Tyr692Asn)
8g.60848543T>CCA371320816CHD7c.5239T>C (p.Tyr1747His)
c.1717-13686T>C (n.1717-13686T>C)
c.5329T>C (p.Tyr1777His)
c.3316T>C (p.Tyr1106His)
c.2866T>C (p.Tyr956His)
c.2074T>C (p.Tyr692His)
8g.60848543T>GCA371320817CHD7c.5239T>G (p.Tyr1747Asp)
c.1717-13686T>G (n.1717-13686T>G)
c.5329T>G (p.Tyr1777Asp)
c.3316T>G (p.Tyr1106Asp)
c.2866T>G (p.Tyr956Asp)
c.2074T>G (p.Tyr692Asp)
8g.60848544A>CCA371320818CHD7c.5240A>C (p.Tyr1747Ser)
c.1717-13685A>C (n.1717-13685A>C)
c.5330A>C (p.Tyr1777Ser)
c.3317A>C (p.Tyr1106Ser)
c.2867A>C (p.Tyr956Ser)
c.2075A>C (p.Tyr692Ser)
8g.60848544A>GCA371320820CHD7c.5240A>G (p.Tyr1747Cys)
c.1717-13685A>G (n.1717-13685A>G)
c.5330A>G (p.Tyr1777Cys)
c.3317A>G (p.Tyr1106Cys)
c.2867A>G (p.Tyr956Cys)
c.2075A>G (p.Tyr692Cys)
8g.60848544A>TCA371320819CHD7c.5240A>T (p.Tyr1747Phe)
c.1717-13685A>T (n.1717-13685A>T)
c.5330A>T (p.Tyr1777Phe)
c.3317A>T (p.Tyr1106Phe)
c.2867A>T (p.Tyr956Phe)
c.2075A>T (p.Tyr692Phe)
8g.60848545C>ACA371320821CHD7c.5241C>A (p.Tyr1747Ter)
c.1717-13684C>A (n.1717-13684C>A)
c.5331C>A (p.Tyr1777Ter)
c.3318C>A (p.Tyr1106Ter)
c.2868C>A (p.Tyr956Ter)
c.2076C>A (p.Tyr692Ter)
 ClinVar
8g.60848545C=CA1788133680CHD7c.5241C= (p.Tyr1747=)
c.1717-13684C= (n.1717-13684C=)
c.5331C= (p.Tyr1777=)
c.3318C= (p.Tyr1106=)
c.2868C= (p.Tyr956=)
c.2076C= (p.Tyr692=)
8g.60848545C>GCA371320822CHD7c.5241C>G (p.Tyr1747Ter)
c.1717-13684C>G (n.1717-13684C>G)
c.5331C>G (p.Tyr1777Ter)
c.3318C>G (p.Tyr1106Ter)
c.2868C>G (p.Tyr956Ter)
c.2076C>G (p.Tyr692Ter)
8g.60848545C>TCA460848388CHD7c.5241C>T (p.Tyr1747=)
c.1717-13684C>T (n.1717-13684C>T)
c.5331C>T (p.Tyr1777=)
c.3318C>T (p.Tyr1106=)
c.2868C>T (p.Tyr956=)
c.2076C>T (p.Tyr692=)
 dbSNP gnomAD v4
8g.60848546delCA2582341674CHD7c.5242del (p.Leu1748Ter)
c.1717-13683del (n.1717-13683del)
c.5332del (p.Leu1778Ter)
c.3319del (p.Leu1107Ter)
c.2869del (p.Leu957Ter)
c.2077del (p.Leu693Ter)
 ClinVar
8g.60848546C>ACA371320823CHD7c.5242C>A (p.Leu1748Ile)
c.1717-13683C>A (n.1717-13683C>A)
c.5332C>A (p.Leu1778Ile)
c.3319C>A (p.Leu1107Ile)
c.2869C>A (p.Leu957Ile)
c.2077C>A (p.Leu693Ile)
8g.60848546C>GCA371320824CHD7c.5242C>G (p.Leu1748Val)
c.1717-13683C>G (n.1717-13683C>G)
c.5332C>G (p.Leu1778Val)
c.3319C>G (p.Leu1107Val)
c.2869C>G (p.Leu957Val)
c.2077C>G (p.Leu693Val)
8g.60848546C>TCA460848389CHD7c.5242C>T (p.Leu1748=)
c.1717-13683C>T (n.1717-13683C>T)
c.5332C>T (p.Leu1778=)
c.3319C>T (p.Leu1107=)
c.2869C>T (p.Leu957=)
c.2077C>T (p.Leu693=)
8g.60848547T>ACA371320825CHD7c.5243T>A (p.Leu1748Gln)
c.1717-13682T>A (n.1717-13682T>A)
c.5333T>A (p.Leu1778Gln)
c.3320T>A (p.Leu1107Gln)
c.2870T>A (p.Leu957Gln)
c.2078T>A (p.Leu693Gln)
8g.60848547T>CCA371320826CHD7c.5243T>C (p.Leu1748Pro)
c.1717-13682T>C (n.1717-13682T>C)
c.5333T>C (p.Leu1778Pro)
c.3320T>C (p.Leu1107Pro)
c.2870T>C (p.Leu957Pro)
c.2078T>C (p.Leu693Pro)
 ClinVar dbSNP COSMIC
8g.60848547T>GCA371320827CHD7c.5243T>G (p.Leu1748Arg)
c.1717-13682T>G (n.1717-13682T>G)
c.5333T>G (p.Leu1778Arg)
c.3320T>G (p.Leu1107Arg)
c.2870T>G (p.Leu957Arg)
c.2078T>G (p.Leu693Arg)
 ClinVar dbSNP
8g.60848547T=CA1788133689CHD7c.5243T= (p.Leu1748=)
c.1717-13682T= (n.1717-13682T=)
c.5333T= (p.Leu1778=)
c.3320T= (p.Leu1107=)
c.2870T= (p.Leu957=)
c.2078T= (p.Leu693=)
8g.60848548A>CCA460848390CHD7c.5244A>C (p.Leu1748=)
c.1717-13681A>C (n.1717-13681A>C)
c.5334A>C (p.Leu1778=)
c.3321A>C (p.Leu1107=)
c.2871A>C (p.Leu957=)
c.2079A>C (p.Leu693=)
8g.60848548A>GCA460848391CHD7c.5244A>G (p.Leu1748=)
c.1717-13681A>G (n.1717-13681A>G)
c.5334A>G (p.Leu1778=)
c.3321A>G (p.Leu1107=)
c.2871A>G (p.Leu957=)
c.2079A>G (p.Leu693=)
8g.60848548A>TCA460848392CHD7c.5244A>T (p.Leu1748=)
c.1717-13681A>T (n.1717-13681A>T)
c.5334A>T (p.Leu1778=)
c.3321A>T (p.Leu1107=)
c.2871A>T (p.Leu957=)
c.2079A>T (p.Leu693=)
8g.60848549A>CCA460848393CHD7c.5245A>C (p.Arg1749=)
c.1717-13680A>C (n.1717-13680A>C)
c.5335A>C (p.Arg1779=)
c.3322A>C (p.Arg1108=)
c.2872A>C (p.Arg958=)
c.2080A>C (p.Arg694=)
8g.60848549A>GCA371320828CHD7c.5245A>G (p.Arg1749Gly)
c.1717-13680A>G (n.1717-13680A>G)
c.5335A>G (p.Arg1779Gly)
c.3322A>G (p.Arg1108Gly)
c.2872A>G (p.Arg958Gly)
c.2080A>G (p.Arg694Gly)
8g.60848549A>TCA371320829CHD7c.5245A>T (p.Arg1749Ter)
c.1717-13680A>T (n.1717-13680A>T)
c.5335A>T (p.Arg1779Ter)
c.3322A>T (p.Arg1108Ter)
c.2872A>T (p.Arg958Ter)
c.2080A>T (p.Arg694Ter)
8g.60848550G>ACA371320830CHD7c.5246G>A (p.Arg1749Lys)
c.1717-13679G>A (n.1717-13679G>A)
c.5336G>A (p.Arg1779Lys)
c.3323G>A (p.Arg1108Lys)
c.2873G>A (p.Arg958Lys)
c.2081G>A (p.Arg694Lys)
8g.60848550G>CCA371320831CHD7c.5246G>C (p.Arg1749Thr)
c.1717-13679G>C (n.1717-13679G>C)
c.5336G>C (p.Arg1779Thr)
c.3323G>C (p.Arg1108Thr)
c.2873G>C (p.Arg958Thr)
c.2081G>C (p.Arg694Thr)
8g.60848550G=CA1788133694CHD7c.5246G= (p.Arg1749=)
c.1717-13679G= (n.1717-13679G=)
c.5336G= (p.Arg1779=)
c.3323G= (p.Arg1108=)
c.2873G= (p.Arg958=)
c.2081G= (p.Arg694=)
8g.60848550G>TCA4760311CHD7c.5246G>T (p.Arg1749Ile)
c.1717-13679G>T (n.1717-13679G>T)
c.5336G>T (p.Arg1779Ile)
c.3323G>T (p.Arg1108Ile)
c.2873G>T (p.Arg958Ile)
c.2081G>T (p.Arg694Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60848551A>CCA371320832CHD7c.5247A>C (p.Arg1749Ser)
c.1717-13678A>C (n.1717-13678A>C)
c.5337A>C (p.Arg1779Ser)
c.3324A>C (p.Arg1108Ser)
c.2874A>C (p.Arg958Ser)
c.2082A>C (p.Arg694Ser)
8g.60848551A>GCA460848394CHD7c.5247A>G (p.Arg1749=)
c.1717-13678A>G (n.1717-13678A>G)
c.5337A>G (p.Arg1779=)
c.3324A>G (p.Arg1108=)
c.2874A>G (p.Arg958=)
c.2082A>G (p.Arg694=)
8g.60848551A>TCA371320833CHD7c.5247A>T (p.Arg1749Ser)
c.1717-13678A>T (n.1717-13678A>T)
c.5337A>T (p.Arg1779Ser)
c.3324A>T (p.Arg1108Ser)
c.2874A>T (p.Arg958Ser)
c.2082A>T (p.Arg694Ser)
8g.60848552C>ACA371320834CHD7c.5248C>A (p.Gln1750Lys)
c.1717-13677C>A (n.1717-13677C>A)
c.5338C>A (p.Gln1780Lys)
c.3325C>A (p.Gln1109Lys)
c.2875C>A (p.Gln959Lys)
c.2083C>A (p.Gln695Lys)
8g.60848552C=CA1788133695CHD7c.5248C= (p.Gln1750=)
c.1717-13677C= (n.1717-13677C=)
c.5338C= (p.Gln1780=)
c.3325C= (p.Gln1109=)
c.2875C= (p.Gln959=)
c.2083C= (p.Gln695=)
8g.60848552C>GCA371320836CHD7c.5248C>G (p.Gln1750Glu)
c.1717-13677C>G (n.1717-13677C>G)
c.5338C>G (p.Gln1780Glu)
c.3325C>G (p.Gln1109Glu)
c.2875C>G (p.Gln959Glu)
c.2083C>G (p.Gln695Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.60848552C>TCA371320835CHD7c.5248C>T (p.Gln1750Ter)
c.1717-13677C>T (n.1717-13677C>T)
c.5338C>T (p.Gln1780Ter)
c.3325C>T (p.Gln1109Ter)
c.2875C>T (p.Gln959Ter)
c.2083C>T (p.Gln695Ter)
8g.60848553A>CCA371320837CHD7c.5249A>C (p.Gln1750Pro)
c.1717-13676A>C (n.1717-13676A>C)
c.5339A>C (p.Gln1780Pro)
c.3326A>C (p.Gln1109Pro)
c.2876A>C (p.Gln959Pro)
c.2084A>C (p.Gln695Pro)
8g.60848553A>GCA371320838CHD7c.5249A>G (p.Gln1750Arg)
c.1717-13676A>G (n.1717-13676A>G)
c.5339A>G (p.Gln1780Arg)
c.3326A>G (p.Gln1109Arg)
c.2876A>G (p.Gln959Arg)
c.2084A>G (p.Gln695Arg)
 gnomAD v4
8g.60848553A>TCA371320839CHD7c.5249A>T (p.Gln1750Leu)
c.1717-13676A>T (n.1717-13676A>T)
c.5339A>T (p.Gln1780Leu)
c.3326A>T (p.Gln1109Leu)
c.2876A>T (p.Gln959Leu)
c.2084A>T (p.Gln695Leu)
8g.60848554delCA2695209740CHD7c.5250del (p.Glu1751LysfsTer2)
c.1717-13675del (n.1717-13675del)
c.5340del (p.Glu1781LysfsTer2)
c.3327del (p.Glu1110LysfsTer2)
c.2877del (p.Glu960LysfsTer2)
c.2085del (p.Glu696LysfsTer2)
8g.60848554A=CA1788133700CHD7c.5250A= (p.Gln1750=)
c.1717-13675A= (n.1717-13675A=)
c.5340A= (p.Gln1780=)
c.3327A= (p.Gln1109=)
c.2877A= (p.Gln959=)
c.2085A= (p.Gln695=)
8g.60848554A>CCA371320840CHD7c.5250A>C (p.Gln1750His)
c.1717-13675A>C (n.1717-13675A>C)
c.5340A>C (p.Gln1780His)
c.3327A>C (p.Gln1109His)
c.2877A>C (p.Gln959His)
c.2085A>C (p.Gln695His)
 ClinVar
8g.60848554A>GCA460848395CHD7c.5250A>G (p.Gln1750=)
c.1717-13675A>G (n.1717-13675A>G)
c.5340A>G (p.Gln1780=)
c.3327A>G (p.Gln1109=)
c.2877A>G (p.Gln959=)
c.2085A>G (p.Gln695=)
 ClinVar dbSNP gnomAD v2
8g.60848554A>TCA371320841CHD7c.5250A>T (p.Gln1750His)
c.1717-13675A>T (n.1717-13675A>T)
c.5340A>T (p.Gln1780His)
c.3327A>T (p.Gln1109His)
c.2877A>T (p.Gln959His)
c.2085A>T (p.Gln695His)
8g.60848555delCA2580078475CHD7c.5251del (p.Glu1751LysfsTer2)
c.1717-13674del (n.1717-13674del)
c.5341del (p.Glu1781LysfsTer2)
c.3328del (p.Glu1110LysfsTer2)
c.2878del (p.Glu960LysfsTer2)
c.2086del (p.Glu696LysfsTer2)
 ClinVar
8g.60848555G>ACA371320842CHD7c.5251G>A (p.Glu1751Lys)
c.1717-13674G>A (n.1717-13674G>A)
c.5341G>A (p.Glu1781Lys)
c.3328G>A (p.Glu1110Lys)
c.2878G>A (p.Glu960Lys)
c.2086G>A (p.Glu696Lys)
8g.60848555G>CCA371320843CHD7c.5251G>C (p.Glu1751Gln)
c.1717-13674G>C (n.1717-13674G>C)
c.5341G>C (p.Glu1781Gln)
c.3328G>C (p.Glu1110Gln)
c.2878G>C (p.Glu960Gln)
c.2086G>C (p.Glu696Gln)
8g.60848555G>TCA371320844CHD7c.5251G>T (p.Glu1751Ter)
c.1717-13674G>T (n.1717-13674G>T)
c.5341G>T (p.Glu1781Ter)
c.3328G>T (p.Glu1110Ter)
c.2878G>T (p.Glu960Ter)
c.2086G>T (p.Glu696Ter)
8g.60848556A>CCA371320845CHD7c.5252A>C (p.Glu1751Ala)
c.1717-13673A>C (n.1717-13673A>C)
c.5342A>C (p.Glu1781Ala)
c.3329A>C (p.Glu1110Ala)
c.2879A>C (p.Glu960Ala)
c.2087A>C (p.Glu696Ala)
8g.60848556A>GCA371320846CHD7c.5252A>G (p.Glu1751Gly)
c.1717-13673A>G (n.1717-13673A>G)
c.5342A>G (p.Glu1781Gly)
c.3329A>G (p.Glu1110Gly)
c.2879A>G (p.Glu960Gly)
c.2087A>G (p.Glu696Gly)
8g.60848556A>TCA371320847CHD7c.5252A>T (p.Glu1751Val)
c.1717-13673A>T (n.1717-13673A>T)
c.5342A>T (p.Glu1781Val)
c.3329A>T (p.Glu1110Val)
c.2879A>T (p.Glu960Val)
c.2087A>T (p.Glu696Val)
8g.60848557A>CCA371320849CHD7c.5253A>C (p.Glu1751Asp)
c.1717-13672A>C (n.1717-13672A>C)
c.5343A>C (p.Glu1781Asp)
c.3330A>C (p.Glu1110Asp)
c.2880A>C (p.Glu960Asp)
c.2088A>C (p.Glu696Asp)
8g.60848557A>GCA460848396CHD7c.5253A>G (p.Glu1751=)
c.1717-13672A>G (n.1717-13672A>G)
c.5343A>G (p.Glu1781=)
c.3330A>G (p.Glu1110=)
c.2880A>G (p.Glu960=)
c.2088A>G (p.Glu696=)
8g.60848557A>TCA371320848CHD7c.5253A>T (p.Glu1751Asp)
c.1717-13672A>T (n.1717-13672A>T)
c.5343A>T (p.Glu1781Asp)
c.3330A>T (p.Glu1110Asp)
c.2880A>T (p.Glu960Asp)
c.2088A>T (p.Glu696Asp)
8g.60848558G>ACA371320850CHD7c.5254G>A (p.Val1752Met)
c.1717-13671G>A (n.1717-13671G>A)
c.5344G>A (p.Val1782Met)
c.3331G>A (p.Val1111Met)
c.2881G>A (p.Val961Met)
c.2089G>A (p.Val697Met)
 gnomAD v4
8g.60848558G>CCA371320852CHD7c.5254G>C (p.Val1752Leu)
c.1717-13671G>C (n.1717-13671G>C)
c.5344G>C (p.Val1782Leu)
c.3331G>C (p.Val1111Leu)
c.2881G>C (p.Val961Leu)
c.2089G>C (p.Val697Leu)
8g.60848558G>TCA371320851CHD7c.5254G>T (p.Val1752Leu)
c.1717-13671G>T (n.1717-13671G>T)
c.5344G>T (p.Val1782Leu)
c.3331G>T (p.Val1111Leu)
c.2881G>T (p.Val961Leu)
c.2089G>T (p.Val697Leu)
8g.60848559T>ACA371320853CHD7c.5255T>A (p.Val1752Glu)
c.1717-13670T>A (n.1717-13670T>A)
c.5345T>A (p.Val1782Glu)
c.3332T>A (p.Val1111Glu)
c.2882T>A (p.Val961Glu)
c.2090T>A (p.Val697Glu)
8g.60848559T>CCA371320855CHD7c.5255T>C (p.Val1752Ala)
c.1717-13670T>C (n.1717-13670T>C)
c.5345T>C (p.Val1782Ala)
c.3332T>C (p.Val1111Ala)
c.2882T>C (p.Val961Ala)
c.2090T>C (p.Val697Ala)
8g.60848559T>GCA371320854CHD7c.5255T>G (p.Val1752Gly)
c.1717-13670T>G (n.1717-13670T>G)
c.5345T>G (p.Val1782Gly)
c.3332T>G (p.Val1111Gly)
c.2882T>G (p.Val961Gly)
c.2090T>G (p.Val697Gly)
8g.60848560G>ACA460848397CHD7c.5256G>A (p.Val1752=)
c.1717-13669G>A (n.1717-13669G>A)
c.5346G>A (p.Val1782=)
c.3333G>A (p.Val1111=)
c.2883G>A (p.Val961=)
c.2091G>A (p.Val697=)
 ClinVar dbSNP gnomAD v2
8g.60848560G>CCA460848398CHD7c.5256G>C (p.Val1752=)
c.1717-13669G>C (n.1717-13669G>C)
c.5346G>C (p.Val1782=)
c.3333G>C (p.Val1111=)
c.2883G>C (p.Val961=)
c.2091G>C (p.Val697=)
8g.60848560G=CA1788133707CHD7c.5256G= (p.Val1752=)
c.1717-13669G= (n.1717-13669G=)
c.5346G= (p.Val1782=)
c.3333G= (p.Val1111=)
c.2883G= (p.Val961=)
c.2091G= (p.Val697=)
8g.60848560G>TCA460848399CHD7c.5256G>T (p.Val1752=)
c.1717-13669G>T (n.1717-13669G>T)
c.5346G>T (p.Val1782=)
c.3333G>T (p.Val1111=)
c.2883G>T (p.Val961=)
c.2091G>T (p.Val697=)
8g.60848561A>CCA371320856CHD7c.5257A>C (p.Ile1753Leu)
c.1717-13668A>C (n.1717-13668A>C)
c.5347A>C (p.Ile1783Leu)
c.3334A>C (p.Ile1112Leu)
c.2884A>C (p.Ile962Leu)
c.2092A>C (p.Ile698Leu)
8g.60848561A>GCA371320857CHD7c.5257A>G (p.Ile1753Val)
c.1717-13668A>G (n.1717-13668A>G)
c.5347A>G (p.Ile1783Val)
c.3334A>G (p.Ile1112Val)
c.2884A>G (p.Ile962Val)
c.2092A>G (p.Ile698Val)
 gnomAD v4
8g.60848561A>TCA371320858CHD7c.5257A>T (p.Ile1753Leu)
c.1717-13668A>T (n.1717-13668A>T)
c.5347A>T (p.Ile1783Leu)
c.3334A>T (p.Ile1112Leu)
c.2884A>T (p.Ile962Leu)
c.2092A>T (p.Ile698Leu)
8g.60848562T>ACA371320859CHD7c.5258T>A (p.Ile1753Lys)
c.1717-13667T>A (n.1717-13667T>A)
c.5348T>A (p.Ile1783Lys)
c.3335T>A (p.Ile1112Lys)
c.2885T>A (p.Ile962Lys)
c.2093T>A (p.Ile698Lys)
8g.60848562T>CCA371320860CHD7c.5258T>C (p.Ile1753Thr)
c.1717-13667T>C (n.1717-13667T>C)
c.5348T>C (p.Ile1783Thr)
c.3335T>C (p.Ile1112Thr)
c.2885T>C (p.Ile962Thr)
c.2093T>C (p.Ile698Thr)
8g.60848562T>GCA371320861CHD7c.5258T>G (p.Ile1753Arg)
c.1717-13667T>G (n.1717-13667T>G)
c.5348T>G (p.Ile1783Arg)
c.3335T>G (p.Ile1112Arg)
c.2885T>G (p.Ile962Arg)
c.2093T>G (p.Ile698Arg)
8g.60848563A>CCA460848400CHD7c.5259A>C (p.Ile1753=)
c.1717-13666A>C (n.1717-13666A>C)
c.5349A>C (p.Ile1783=)
c.3336A>C (p.Ile1112=)
c.2886A>C (p.Ile962=)
c.2094A>C (p.Ile698=)
8g.60848563A>GCA371320862CHD7c.5259A>G (p.Ile1753Met)
c.1717-13666A>G (n.1717-13666A>G)
c.5349A>G (p.Ile1783Met)
c.3336A>G (p.Ile1112Met)
c.2886A>G (p.Ile962Met)
c.2094A>G (p.Ile698Met)
 gnomAD v4
8g.60848563A>TCA460848401CHD7c.5259A>T (p.Ile1753=)
c.1717-13666A>T (n.1717-13666A>T)
c.5349A>T (p.Ile1783=)
c.3336A>T (p.Ile1112=)
c.2886A>T (p.Ile962=)
c.2094A>T (p.Ile698=)
8g.60848565_60848567delCA2687402368CHD7c.5261_5263del (p.Gly1754del)
c.1717-13664_1717-13662del (n.1717-13664_1717-13662del)
c.5351_5353del (p.Gly1784del)
c.3338_3340del (p.Gly1113del)
c.2888_2890del (p.Gly963del)
c.2096_2098del (p.Gly699del)
 gnomAD v4
8g.60848564G>ACA371320863CHD7c.5260G>A (p.Gly1754Arg)
c.1717-13665G>A (n.1717-13665G>A)
c.5350G>A (p.Gly1784Arg)
c.3337G>A (p.Gly1113Arg)
c.2887G>A (p.Gly963Arg)
c.2095G>A (p.Gly699Arg)
 gnomAD v4
8g.60848564G>CCA371320864CHD7c.5260G>C (p.Gly1754Arg)
c.1717-13665G>C (n.1717-13665G>C)
c.5350G>C (p.Gly1784Arg)
c.3337G>C (p.Gly1113Arg)
c.2887G>C (p.Gly963Arg)
c.2095G>C (p.Gly699Arg)
8g.60848564G>TCA371320865CHD7c.5260G>T (p.Gly1754Ter)
c.1717-13665G>T (n.1717-13665G>T)
c.5350G>T (p.Gly1784Ter)
c.3337G>T (p.Gly1113Ter)
c.2887G>T (p.Gly963Ter)
c.2095G>T (p.Gly699Ter)
8g.60848565G>ACA371320868CHD7c.5261G>A (p.Gly1754Glu)
c.1717-13664G>A (n.1717-13664G>A)
c.5351G>A (p.Gly1784Glu)
c.3338G>A (p.Gly1113Glu)
c.2888G>A (p.Gly963Glu)
c.2096G>A (p.Gly699Glu)
8g.60848565G>CCA371320867CHD7c.5261G>C (p.Gly1754Ala)
c.1717-13664G>C (n.1717-13664G>C)
c.5351G>C (p.Gly1784Ala)
c.3338G>C (p.Gly1113Ala)
c.2888G>C (p.Gly963Ala)
c.2096G>C (p.Gly699Ala)
8g.60848565G>TCA371320866CHD7c.5261G>T (p.Gly1754Val)
c.1717-13664G>T (n.1717-13664G>T)
c.5351G>T (p.Gly1784Val)
c.3338G>T (p.Gly1113Val)
c.2888G>T (p.Gly963Val)
c.2096G>T (p.Gly699Val)
8g.60848566A>CCA460848402CHD7c.5262A>C (p.Gly1754=)
c.1717-13663A>C (n.1717-13663A>C)
c.5352A>C (p.Gly1784=)
c.3339A>C (p.Gly1113=)
c.2889A>C (p.Gly963=)
c.2097A>C (p.Gly699=)
8g.60848566A>GCA460848404CHD7c.5262A>G (p.Gly1754=)
c.1717-13663A>G (n.1717-13663A>G)
c.5352A>G (p.Gly1784=)
c.3339A>G (p.Gly1113=)
c.2889A>G (p.Gly963=)
c.2097A>G (p.Gly699=)
8g.60848566A>TCA460848403CHD7c.5262A>T (p.Gly1754=)
c.1717-13663A>T (n.1717-13663A>T)
c.5352A>T (p.Gly1784=)
c.3339A>T (p.Gly1113=)
c.2889A>T (p.Gly963=)
c.2097A>T (p.Gly699=)
8g.60848567G>ACA371320869CHD7c.5263G>A (p.Asp1755Asn)
c.1717-13662G>A (n.1717-13662G>A)
c.5353G>A (p.Asp1785Asn)
c.3340G>A (p.Asp1114Asn)
c.2890G>A (p.Asp964Asn)
c.2098G>A (p.Asp700Asn)
8g.60848567G>CCA371320870CHD7c.5263G>C (p.Asp1755His)
c.1717-13662G>C (n.1717-13662G>C)
c.5353G>C (p.Asp1785His)
c.3340G>C (p.Asp1114His)
c.2890G>C (p.Asp964His)
c.2098G>C (p.Asp700His)
 ClinVar dbSNP
8g.60848567G=CA1788133714CHD7c.5263G= (p.Asp1755=)
c.1717-13662G= (n.1717-13662G=)
c.5353G= (p.Asp1785=)
c.3340G= (p.Asp1114=)
c.2890G= (p.Asp964=)
c.2098G= (p.Asp700=)
8g.60848567G>TCA371320871CHD7c.5263G>T (p.Asp1755Tyr)
c.1717-13662G>T (n.1717-13662G>T)
c.5353G>T (p.Asp1785Tyr)
c.3340G>T (p.Asp1114Tyr)
c.2890G>T (p.Asp964Tyr)
c.2098G>T (p.Asp700Tyr)
 gnomAD v4
8g.60848568A>CCA371320872CHD7c.5264A>C (p.Asp1755Ala)
c.1717-13661A>C (n.1717-13661A>C)
c.5354A>C (p.Asp1785Ala)
c.3341A>C (p.Asp1114Ala)
c.2891A>C (p.Asp964Ala)
c.2099A>C (p.Asp700Ala)
8g.60848568A>GCA371320873CHD7c.5264A>G (p.Asp1755Gly)
c.1717-13661A>G (n.1717-13661A>G)
c.5354A>G (p.Asp1785Gly)
c.3341A>G (p.Asp1114Gly)
c.2891A>G (p.Asp964Gly)
c.2099A>G (p.Asp700Gly)
8g.60848568A>TCA371320874CHD7c.5264A>T (p.Asp1755Val)
c.1717-13661A>T (n.1717-13661A>T)
c.5354A>T (p.Asp1785Val)
c.3341A>T (p.Asp1114Val)
c.2891A>T (p.Asp964Val)
c.2099A>T (p.Asp700Val)
8g.60848569C>ACA371320875CHD7c.5265C>A (p.Asp1755Glu)
c.1717-13660C>A (n.1717-13660C>A)
c.5355C>A (p.Asp1785Glu)
c.3342C>A (p.Asp1114Glu)
c.2892C>A (p.Asp964Glu)
c.2100C>A (p.Asp700Glu)
 ClinVar dbSNP
8g.60848569C>GCA371320876CHD7c.5265C>G (p.Asp1755Glu)
c.1717-13660C>G (n.1717-13660C>G)
c.5355C>G (p.Asp1785Glu)
c.3342C>G (p.Asp1114Glu)
c.2892C>G (p.Asp964Glu)
c.2100C>G (p.Asp700Glu)
8g.60848569C>TCA460848405CHD7c.5265C>T (p.Asp1755=)
c.1717-13660C>T (n.1717-13660C>T)
c.5355C>T (p.Asp1785=)
c.3342C>T (p.Asp1114=)
c.2892C>T (p.Asp964=)
c.2100C>T (p.Asp700=)
8g.60848570C>ACA371320877CHD7c.5266C>A (p.Gln1756Lys)
c.1717-13659C>A (n.1717-13659C>A)
c.5356C>A (p.Gln1786Lys)
c.3343C>A (p.Gln1115Lys)
c.2893C>A (p.Gln965Lys)
c.2101C>A (p.Gln701Lys)
8g.60848570C>GCA371320878CHD7c.5266C>G (p.Gln1756Glu)
c.1717-13659C>G (n.1717-13659C>G)
c.5356C>G (p.Gln1786Glu)
c.3343C>G (p.Gln1115Glu)
c.2893C>G (p.Gln965Glu)
c.2101C>G (p.Gln701Glu)
8g.60848570C>TCA371320879CHD7c.5266C>T (p.Gln1756Ter)
c.1717-13659C>T (n.1717-13659C>T)
c.5356C>T (p.Gln1786Ter)
c.3343C>T (p.Gln1115Ter)
c.2893C>T (p.Gln965Ter)
c.2101C>T (p.Gln701Ter)
8g.60848571A>CCA371320881CHD7c.5267A>C (p.Gln1756Pro)
c.1717-13658A>C (n.1717-13658A>C)
c.5357A>C (p.Gln1786Pro)
c.3344A>C (p.Gln1115Pro)
c.2894A>C (p.Gln965Pro)
c.2102A>C (p.Gln701Pro)
8g.60848571A>GCA371320882CHD7c.5267A>G (p.Gln1756Arg)
c.1717-13658A>G (n.1717-13658A>G)
c.5357A>G (p.Gln1786Arg)
c.3344A>G (p.Gln1115Arg)
c.2894A>G (p.Gln965Arg)
c.2102A>G (p.Gln701Arg)
8g.60848571A>TCA371320880CHD7c.5267A>T (p.Gln1756Leu)
c.1717-13658A>T (n.1717-13658A>T)
c.5357A>T (p.Gln1786Leu)
c.3344A>T (p.Gln1115Leu)
c.2894A>T (p.Gln965Leu)
c.2102A>T (p.Gln701Leu)
8g.60848572G>ACA460848408CHD7c.5268G>A (p.Gln1756=)
c.1717-13657G>A (n.1717-13657G>A)
c.5358G>A (p.Gln1786=)
c.3345G>A (p.Gln1115=)
c.2895G>A (p.Gln965=)
c.2103G>A (p.Gln701=)
 dbSNP gnomAD v2
8g.60848572G>CCA371320883CHD7c.5268G>C (p.Gln1756His)
c.1717-13657G>C (n.1717-13657G>C)
c.5358G>C (p.Gln1786His)
c.3345G>C (p.Gln1115His)
c.2895G>C (p.Gln965His)
c.2103G>C (p.Gln701His)
8g.60848572G=CA1788133723CHD7c.5268G= (p.Gln1756=)
c.1717-13657G= (n.1717-13657G=)
c.5358G= (p.Gln1786=)
c.3345G= (p.Gln1115=)
c.2895G= (p.Gln965=)
c.2103G= (p.Gln701=)
8g.60848572G>TCA371320884CHD7c.5268G>T (p.Gln1756His)
c.1717-13657G>T (n.1717-13657G>T)
c.5358G>T (p.Gln1786His)
c.3345G>T (p.Gln1115His)
c.2895G>T (p.Gln965His)
c.2103G>T (p.Gln701His)
8g.60848573G>ACA4760312CHD7c.5269G>A (p.Ala1757Thr)
c.1717-13656G>A (n.1717-13656G>A)
c.5359G>A (p.Ala1787Thr)
c.3346G>A (p.Ala1116Thr)
c.2896G>A (p.Ala966Thr)
c.2104G>A (p.Ala702Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848573G>CCA371320885CHD7c.5269G>C (p.Ala1757Pro)
c.1717-13656G>C (n.1717-13656G>C)
c.5359G>C (p.Ala1787Pro)
c.3346G>C (p.Ala1116Pro)
c.2896G>C (p.Ala966Pro)
c.2104G>C (p.Ala702Pro)
8g.60848573G=CA1788133729CHD7c.5269G= (p.Ala1757=)
c.1717-13656G= (n.1717-13656G=)
c.5359G= (p.Ala1787=)
c.3346G= (p.Ala1116=)
c.2896G= (p.Ala966=)
c.2104G= (p.Ala702=)
8g.60848573G>TCA371320886CHD7c.5269G>T (p.Ala1757Ser)
c.1717-13656G>T (n.1717-13656G>T)
c.5359G>T (p.Ala1787Ser)
c.3346G>T (p.Ala1116Ser)
c.2896G>T (p.Ala966Ser)
c.2104G>T (p.Ala702Ser)
8g.60848574C>ACA371320887CHD7c.5270C>A (p.Ala1757Glu)
c.1717-13655C>A (n.1717-13655C>A)
c.5360C>A (p.Ala1787Glu)
c.3347C>A (p.Ala1116Glu)
c.2897C>A (p.Ala966Glu)
c.2105C>A (p.Ala702Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.60848574C=CA1788133734CHD7c.5270C= (p.Ala1757=)
c.1717-13655C= (n.1717-13655C=)
c.5360C= (p.Ala1787=)
c.3347C= (p.Ala1116=)
c.2897C= (p.Ala966=)
c.2105C= (p.Ala702=)
8g.60848574C>GCA371320888CHD7c.5270C>G (p.Ala1757Gly)
c.1717-13655C>G (n.1717-13655C>G)
c.5360C>G (p.Ala1787Gly)
c.3347C>G (p.Ala1116Gly)
c.2897C>G (p.Ala966Gly)
c.2105C>G (p.Ala702Gly)
 gnomAD v4
8g.60848574C>TCA4760313CHD7c.5270C>T (p.Ala1757Val)
c.1717-13655C>T (n.1717-13655C>T)
c.5360C>T (p.Ala1787Val)
c.3347C>T (p.Ala1116Val)
c.2897C>T (p.Ala966Val)
c.2105C>T (p.Ala702Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848575G>ACA4760314CHD7c.5271G>A (p.Ala1757=)
c.1717-13654G>A (n.1717-13654G>A)
c.5361G>A (p.Ala1787=)
c.3348G>A (p.Ala1116=)
c.2898G>A (p.Ala966=)
c.2106G>A (p.Ala702=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848575G>CCA460848409CHD7c.5271G>C (p.Ala1757=)
c.1717-13654G>C (n.1717-13654G>C)
c.5361G>C (p.Ala1787=)
c.3348G>C (p.Ala1116=)
c.2898G>C (p.Ala966=)
c.2106G>C (p.Ala702=)
 dbSNP gnomAD v3 gnomAD v4
8g.60848575G=CA1788133744CHD7c.5271G= (p.Ala1757=)
c.1717-13654G= (n.1717-13654G=)
c.5361G= (p.Ala1787=)
c.3348G= (p.Ala1116=)
c.2898G= (p.Ala966=)
c.2106G= (p.Ala702=)
8g.60848575G>TCA460848410CHD7c.5271G>T (p.Ala1757=)
c.1717-13654G>T (n.1717-13654G>T)
c.5361G>T (p.Ala1787=)
c.3348G>T (p.Ala1116=)
c.2898G>T (p.Ala966=)
c.2106G>T (p.Ala702=)
 dbSNP
8g.60848576G>ACA371320889CHD7c.5272G>A (p.Asp1758Asn)
c.1717-13653G>A (n.1717-13653G>A)
c.5362G>A (p.Asp1788Asn)
c.3349G>A (p.Asp1117Asn)
c.2899G>A (p.Asp967Asn)
c.2107G>A (p.Asp703Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60848576G>CCA371320890CHD7c.5272G>C (p.Asp1758His)
c.1717-13653G>C (n.1717-13653G>C)
c.5362G>C (p.Asp1788His)
c.3349G>C (p.Asp1117His)
c.2899G>C (p.Asp967His)
c.2107G>C (p.Asp703His)
8g.60848576G=CA1788133755CHD7c.5272G= (p.Asp1758=)
c.1717-13653G= (n.1717-13653G=)
c.5362G= (p.Asp1788=)
c.3349G= (p.Asp1117=)
c.2899G= (p.Asp967=)
c.2107G= (p.Asp703=)
8g.60848576G>TCA371320891CHD7c.5272G>T (p.Asp1758Tyr)
c.1717-13653G>T (n.1717-13653G>T)
c.5362G>T (p.Asp1788Tyr)
c.3349G>T (p.Asp1117Tyr)
c.2899G>T (p.Asp967Tyr)
c.2107G>T (p.Asp703Tyr)
8g.60848577A>CCA371320893CHD7c.5273A>C (p.Asp1758Ala)
c.1717-13652A>C (n.1717-13652A>C)
c.5363A>C (p.Asp1788Ala)
c.3350A>C (p.Asp1117Ala)
c.2900A>C (p.Asp967Ala)
c.2108A>C (p.Asp703Ala)
8g.60848577A>GCA371320894CHD7c.5273A>G (p.Asp1758Gly)
c.1717-13652A>G (n.1717-13652A>G)
c.5363A>G (p.Asp1788Gly)
c.3350A>G (p.Asp1117Gly)
c.2900A>G (p.Asp967Gly)
c.2108A>G (p.Asp703Gly)
 ClinVar
8g.60848577A>TCA371320892CHD7c.5273A>T (p.Asp1758Val)
c.1717-13652A>T (n.1717-13652A>T)
c.5363A>T (p.Asp1788Val)
c.3350A>T (p.Asp1117Val)
c.2900A>T (p.Asp967Val)
c.2108A>T (p.Asp703Val)
8g.60848578T>ACA371320895CHD7c.5274T>A (p.Asp1758Glu)
c.1717-13651T>A (n.1717-13651T>A)
c.5364T>A (p.Asp1788Glu)
c.3351T>A (p.Asp1117Glu)
c.2901T>A (p.Asp967Glu)
c.2109T>A (p.Asp703Glu)
8g.60848578T>CCA460848411CHD7c.5274T>C (p.Asp1758=)
c.1717-13651T>C (n.1717-13651T>C)
c.5364T>C (p.Asp1788=)
c.3351T>C (p.Asp1117=)
c.2901T>C (p.Asp967=)
c.2109T>C (p.Asp703=)
8g.60848578T>GCA371320896CHD7c.5274T>G (p.Asp1758Glu)
c.1717-13651T>G (n.1717-13651T>G)
c.5364T>G (p.Asp1788Glu)
c.3351T>G (p.Asp1117Glu)
c.2901T>G (p.Asp967Glu)
c.2109T>G (p.Asp703Glu)
8g.60848579A=CA1788133762CHD7c.5275A= (p.Lys1759=)
c.1717-13650A= (n.1717-13650A=)
c.5365A= (p.Lys1789=)
c.3352A= (p.Lys1118=)
c.2902A= (p.Lys968=)
c.2110A= (p.Lys704=)
8g.60848579A>CCA4760315CHD7c.5275A>C (p.Lys1759Gln)
c.1717-13650A>C (n.1717-13650A>C)
c.5365A>C (p.Lys1789Gln)
c.3352A>C (p.Lys1118Gln)
c.2902A>C (p.Lys968Gln)
c.2110A>C (p.Lys704Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60848579A>GCA177352392CHD7c.5275A>G (p.Lys1759Glu)
c.1717-13650A>G (n.1717-13650A>G)
c.5365A>G (p.Lys1789Glu)
c.3352A>G (p.Lys1118Glu)
c.2902A>G (p.Lys968Glu)
c.2110A>G (p.Lys704Glu)
 dbSNP gnomAD v4
8g.60848579A>TCA371320897CHD7c.5275A>T (p.Lys1759Ter)
c.1717-13650A>T (n.1717-13650A>T)
c.5365A>T (p.Lys1789Ter)
c.3352A>T (p.Lys1118Ter)
c.2902A>T (p.Lys968Ter)
c.2110A>T (p.Lys704Ter)
8g.60848580A>CCA371320900CHD7c.5276A>C (p.Lys1759Thr)
c.1717-13649A>C (n.1717-13649A>C)
c.5366A>C (p.Lys1789Thr)
c.3353A>C (p.Lys1118Thr)
c.2903A>C (p.Lys968Thr)
c.2111A>C (p.Lys704Thr)
 gnomAD v4
8g.60848580A>GCA371320898CHD7c.5276A>G (p.Lys1759Arg)
c.1717-13649A>G (n.1717-13649A>G)
c.5366A>G (p.Lys1789Arg)
c.3353A>G (p.Lys1118Arg)
c.2903A>G (p.Lys968Arg)
c.2111A>G (p.Lys704Arg)
8g.60848580A>TCA371320899CHD7c.5276A>T (p.Lys1759Met)
c.1717-13649A>T (n.1717-13649A>T)
c.5366A>T (p.Lys1789Met)
c.3353A>T (p.Lys1118Met)
c.2903A>T (p.Lys968Met)
c.2111A>T (p.Lys704Met)
8g.60848581G>ACA177352396CHD7c.5277G>A (p.Lys1759=)
c.1717-13648G>A (n.1717-13648G>A)
c.5367G>A (p.Lys1789=)
c.3354G>A (p.Lys1118=)
c.2904G>A (p.Lys968=)
c.2112G>A (p.Lys704=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60848581G>CCA371320901CHD7c.5277G>C (p.Lys1759Asn)
c.1717-13648G>C (n.1717-13648G>C)
c.5367G>C (p.Lys1789Asn)
c.3354G>C (p.Lys1118Asn)
c.2904G>C (p.Lys968Asn)
c.2112G>C (p.Lys704Asn)
 gnomAD v4
8g.60848581G=CA1788133788CHD7c.5277G= (p.Lys1759=)
c.1717-13648G= (n.1717-13648G=)
c.5367G= (p.Lys1789=)
c.3354G= (p.Lys1118=)
c.2904G= (p.Lys968=)
c.2112G= (p.Lys704=)
8g.60848581G>TCA4760316CHD7c.5277G>T (p.Lys1759Asn)
c.1717-13648G>T (n.1717-13648G>T)
c.5367G>T (p.Lys1789Asn)
c.3354G>T (p.Lys1118Asn)
c.2904G>T (p.Lys968Asn)
c.2112G>T (p.Lys704Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60848582A=CA1788133793CHD7c.5278A= (p.Ile1760=)
c.1717-13647A= (n.1717-13647A=)
c.5368A= (p.Ile1790=)
c.3355A= (p.Ile1119=)
c.2905A= (p.Ile969=)
c.2113A= (p.Ile705=)
8g.60848582A>CCA371320902CHD7c.5278A>C (p.Ile1760Leu)
c.1717-13647A>C (n.1717-13647A>C)
c.5368A>C (p.Ile1790Leu)
c.3355A>C (p.Ile1119Leu)
c.2905A>C (p.Ile969Leu)
c.2113A>C (p.Ile705Leu)
8g.60848582A>GCA371320903CHD7c.5278A>G (p.Ile1760Val)
c.1717-13647A>G (n.1717-13647A>G)
c.5368A>G (p.Ile1790Val)
c.3355A>G (p.Ile1119Val)
c.2905A>G (p.Ile969Val)
c.2113A>G (p.Ile705Val)
 dbSNP gnomAD v2
8g.60848582A>TCA371320904CHD7c.5278A>T (p.Ile1760Phe)
c.1717-13647A>T (n.1717-13647A>T)
c.5368A>T (p.Ile1790Phe)
c.3355A>T (p.Ile1119Phe)
c.2905A>T (p.Ile969Phe)
c.2113A>T (p.Ile705Phe)
8g.60848583T>ACA371320907CHD7c.5279T>A (p.Ile1760Asn)
c.1717-13646T>A (n.1717-13646T>A)
c.5369T>A (p.Ile1790Asn)
c.3356T>A (p.Ile1119Asn)
c.2906T>A (p.Ile969Asn)
c.2114T>A (p.Ile705Asn)
8g.60848583T>CCA371320906CHD7c.5279T>C (p.Ile1760Thr)
c.1717-13646T>C (n.1717-13646T>C)
c.5369T>C (p.Ile1790Thr)
c.3356T>C (p.Ile1119Thr)
c.2906T>C (p.Ile969Thr)
c.2114T>C (p.Ile705Thr)
8g.60848583T>GCA371320905CHD7c.5279T>G (p.Ile1760Ser)
c.1717-13646T>G (n.1717-13646T>G)
c.5369T>G (p.Ile1790Ser)
c.3356T>G (p.Ile1119Ser)
c.2906T>G (p.Ile969Ser)
c.2114T>G (p.Ile705Ser)
8g.60848584C>ACA460848412CHD7c.5280C>A (p.Ile1760=)
c.1717-13645C>A (n.1717-13645C>A)
c.5370C>A (p.Ile1790=)
c.3357C>A (p.Ile1119=)
c.2907C>A (p.Ile969=)
c.2115C>A (p.Ile705=)
8g.60848584C>GCA371320908CHD7c.5280C>G (p.Ile1760Met)
c.1717-13645C>G (n.1717-13645C>G)
c.5370C>G (p.Ile1790Met)
c.3357C>G (p.Ile1119Met)
c.2907C>G (p.Ile969Met)
c.2115C>G (p.Ile705Met)
8g.60848584C>TCA460848413CHD7c.5280C>T (p.Ile1760=)
c.1717-13645C>T (n.1717-13645C>T)
c.5370C>T (p.Ile1790=)
c.3357C>T (p.Ile1119=)
c.2907C>T (p.Ile969=)
c.2115C>T (p.Ile705=)
8g.60848585T>ACA371320910CHD7c.5281T>A (p.Leu1761Ile)
c.1717-13644T>A (n.1717-13644T>A)
c.5371T>A (p.Leu1791Ile)
c.3358T>A (p.Leu1120Ile)
c.2908T>A (p.Leu970Ile)
c.2116T>A (p.Leu706Ile)
8g.60848585T>CCA460848414CHD7c.5281T>C (p.Leu1761=)
c.1717-13644T>C (n.1717-13644T>C)
c.5371T>C (p.Leu1791=)
c.3358T>C (p.Leu1120=)
c.2908T>C (p.Leu970=)
c.2116T>C (p.Leu706=)
8g.60848585T>GCA371320909CHD7c.5281T>G (p.Leu1761Val)
c.1717-13644T>G (n.1717-13644T>G)
c.5371T>G (p.Leu1791Val)
c.3358T>G (p.Leu1120Val)
c.2908T>G (p.Leu970Val)
c.2116T>G (p.Leu706Val)
8g.60848586T>ACA371320911CHD7c.5282T>A (p.Leu1761Ter)
c.1717-13643T>A (n.1717-13643T>A)
c.5372T>A (p.Leu1791Ter)
c.3359T>A (p.Leu1120Ter)
c.2909T>A (p.Leu970Ter)
c.2117T>A (p.Leu706Ter)
8g.60848586T>CCA371320912CHD7c.5282T>C (p.Leu1761Ser)
c.1717-13643T>C (n.1717-13643T>C)
c.5372T>C (p.Leu1791Ser)
c.3359T>C (p.Leu1120Ser)
c.2909T>C (p.Leu970Ser)
c.2117T>C (p.Leu706Ser)
 gnomAD v4
8g.60848586T>GCA371320913CHD7c.5282T>G (p.Leu1761Ter)
c.1717-13643T>G (n.1717-13643T>G)
c.5372T>G (p.Leu1791Ter)
c.3359T>G (p.Leu1120Ter)
c.2909T>G (p.Leu970Ter)
c.2117T>G (p.Leu706Ter)
8g.60848587A>CCA371320914CHD7c.5283A>C (p.Leu1761Phe)
c.1717-13642A>C (n.1717-13642A>C)
c.5373A>C (p.Leu1791Phe)
c.3360A>C (p.Leu1120Phe)
c.2910A>C (p.Leu970Phe)
c.2118A>C (p.Leu706Phe)
8g.60848587A>GCA460848415CHD7c.5283A>G (p.Leu1761=)
c.1717-13642A>G (n.1717-13642A>G)
c.5373A>G (p.Leu1791=)
c.3360A>G (p.Leu1120=)
c.2910A>G (p.Leu970=)
c.2118A>G (p.Leu706=)
8g.60848587A>TCA371320915CHD7c.5283A>T (p.Leu1761Phe)
c.1717-13642A>T (n.1717-13642A>T)
c.5373A>T (p.Leu1791Phe)
c.3360A>T (p.Leu1120Phe)
c.2910A>T (p.Leu970Phe)
c.2118A>T (p.Leu706Phe)
8g.60848588G>ACA371320916CHD7c.5284G>A (p.Glu1762Lys)
c.1717-13641G>A (n.1717-13641G>A)
c.5374G>A (p.Glu1792Lys)
c.3361G>A (p.Glu1121Lys)
c.2911G>A (p.Glu971Lys)
c.2119G>A (p.Glu707Lys)
 dbSNP
8g.60848588G>CCA371320917CHD7c.5284G>C (p.Glu1762Gln)
c.1717-13641G>C (n.1717-13641G>C)
c.5374G>C (p.Glu1792Gln)
c.3361G>C (p.Glu1121Gln)
c.2911G>C (p.Glu971Gln)
c.2119G>C (p.Glu707Gln)
 ClinVar
8g.60848588G=CA1788133797CHD7c.5284G= (p.Glu1762=)
c.1717-13641G= (n.1717-13641G=)
c.5374G= (p.Glu1792=)
c.3361G= (p.Glu1121=)
c.2911G= (p.Glu971=)
c.2119G= (p.Glu707=)
8g.60848588G>TCA371320918CHD7c.5284G>T (p.Glu1762Ter)
c.1717-13641G>T (n.1717-13641G>T)
c.5374G>T (p.Glu1792Ter)
c.3361G>T (p.Glu1121Ter)
c.2911G>T (p.Glu971Ter)
c.2119G>T (p.Glu707Ter)
8g.60848589A>CCA371320919CHD7c.5285A>C (p.Glu1762Ala)
c.1717-13640A>C (n.1717-13640A>C)
c.5375A>C (p.Glu1792Ala)
c.3362A>C (p.Glu1121Ala)
c.2912A>C (p.Glu971Ala)
c.2120A>C (p.Glu707Ala)
8g.60848589A>GCA371320920CHD7c.5285A>G (p.Glu1762Gly)
c.1717-13640A>G (n.1717-13640A>G)
c.5375A>G (p.Glu1792Gly)
c.3362A>G (p.Glu1121Gly)
c.2912A>G (p.Glu971Gly)
c.2120A>G (p.Glu707Gly)
8g.60848589A>TCA371320921CHD7c.5285A>T (p.Glu1762Val)
c.1717-13640A>T (n.1717-13640A>T)
c.5375A>T (p.Glu1792Val)
c.3362A>T (p.Glu1121Val)
c.2912A>T (p.Glu971Val)
c.2120A>T (p.Glu707Val)
8g.60848590G>ACA460848416CHD7c.5286G>A (p.Glu1762=)
c.1717-13639G>A (n.1717-13639G>A)
c.5376G>A (p.Glu1792=)
c.3363G>A (p.Glu1121=)
c.2913G>A (p.Glu971=)
c.2121G>A (p.Glu707=)
 dbSNP gnomAD v3 gnomAD v4
8g.60848590G>CCA371320923CHD7c.5286G>C (p.Glu1762Asp)
c.1717-13639G>C (n.1717-13639G>C)
c.5376G>C (p.Glu1792Asp)
c.3363G>C (p.Glu1121Asp)
c.2913G>C (p.Glu971Asp)
c.2121G>C (p.Glu707Asp)
8g.60848590G=CA1788133801CHD7c.5286G= (p.Glu1762=)
c.1717-13639G= (n.1717-13639G=)
c.5376G= (p.Glu1792=)
c.3363G= (p.Glu1121=)
c.2913G= (p.Glu971=)
c.2121G= (p.Glu707=)
8g.60848590G>TCA371320922CHD7c.5286G>T (p.Glu1762Asp)
c.1717-13639G>T (n.1717-13639G>T)
c.5376G>T (p.Glu1792Asp)
c.3363G>T (p.Glu1121Asp)
c.2913G>T (p.Glu971Asp)
c.2121G>T (p.Glu707Asp)
8g.60848591G>ACA4760317CHD7c.5287G>A (p.Gly1763Ser)
c.1717-13638G>A (n.1717-13638G>A)
c.5377G>A (p.Gly1793Ser)
c.3364G>A (p.Gly1122Ser)
c.2914G>A (p.Gly972Ser)
c.2122G>A (p.Gly708Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60848591G>CCA371320924CHD7c.5287G>C (p.Gly1763Arg)
c.1717-13638G>C (n.1717-13638G>C)
c.5377G>C (p.Gly1793Arg)
c.3364G>C (p.Gly1122Arg)
c.2914G>C (p.Gly972Arg)
c.2122G>C (p.Gly708Arg)
8g.60848591G=CA1788133804CHD7c.5287G= (p.Gly1763=)
c.1717-13638G= (n.1717-13638G=)
c.5377G= (p.Gly1793=)
c.3364G= (p.Gly1122=)
c.2914G= (p.Gly972=)
c.2122G= (p.Gly708=)
8g.60848591G>TCA4760318CHD7c.5287G>T (p.Gly1763Cys)
c.1717-13638G>T (n.1717-13638G>T)
c.5377G>T (p.Gly1793Cys)
c.3364G>T (p.Gly1122Cys)
c.2914G>T (p.Gly972Cys)
c.2122G>T (p.Gly708Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched