Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21748527T>C | CA2681987020 | DNAH11 | c.8511-53T>C (n.8511-53T>C) c.8532-53T>C (n.8532-53T>C) | gnomAD v4 |
7 | g.21748528A>G | CA2681987021 | DNAH11 | c.8511-52A>G (n.8511-52A>G) c.8532-52A>G (n.8532-52A>G) | gnomAD v4 |
7 | g.21748529G>C | CA836670035 | DNAH11 | c.8511-51G>C (n.8511-51G>C) c.8532-51G>C (n.8532-51G>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748529G= | CA1693661768 | DNAH11 | c.8511-51G= (n.8511-51G=) c.8532-51G= (n.8532-51G=) | |
7 | g.21748530T>C | CA836670039 | DNAH11 | c.8511-50T>C (n.8511-50T>C) c.8532-50T>C (n.8532-50T>C) | dbSNP gnomAD v4 |
7 | g.21748530T= | CA1693661778 | DNAH11 | c.8511-50T= (n.8511-50T=) c.8532-50T= (n.8532-50T=) | |
7 | g.21748530_21748531delinsTC | CA1693661775 | DNAH11 | c.8511-50_8511-49delinsTC (n.8511-50_8511-49delinsTC) c.8532-50_8532-49delinsTC (n.8532-50_8532-49delinsTC) | |
7 | g.21748531C= | CA1693661784 | DNAH11 | c.8511-49C= (n.8511-49C=) c.8532-49C= (n.8532-49C=) | |
7 | g.21748531C>G | CA836670041 | DNAH11 | c.8511-49C>G (n.8511-49C>G) c.8532-49C>G (n.8532-49C>G) | dbSNP |
7 | g.21748531C>T | CA2681987022 | DNAH11 | c.8511-49C>T (n.8511-49C>T) c.8532-49C>T (n.8532-49C>T) | gnomAD v4 |
7 | g.21748533del | CA4181615 | DNAH11 | c.8511-47del (n.8511-47del) c.8532-47del (n.8532-47del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748532C>A | CA2681987023 | DNAH11 | c.8511-48C>A (n.8511-48C>A) c.8532-48C>A (n.8532-48C>A) | gnomAD v4 |
7 | g.21748532C= | CA1693661791 | DNAH11 | c.8511-48C= (n.8511-48C=) c.8532-48C= (n.8532-48C=) | |
7 | g.21748532C>G | CA155121172 | DNAH11 | c.8511-48C>G (n.8511-48C>G) c.8532-48C>G (n.8532-48C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748532C>T | CA155121175 | DNAH11 | c.8511-48C>T (n.8511-48C>T) c.8532-48C>T (n.8532-48C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748533C>A | CA2681987024 | DNAH11 | c.8511-47C>A (n.8511-47C>A) c.8532-47C>A (n.8532-47C>A) | gnomAD v4 |
7 | g.21748533C= | CA1693661794 | DNAH11 | c.8511-47C= (n.8511-47C=) c.8532-47C= (n.8532-47C=) | |
7 | g.21748533C>T | CA4181616 | DNAH11 | c.8511-47C>T (n.8511-47C>T) c.8532-47C>T (n.8532-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748533_21748534delinsCG | CA1693661798 | DNAH11 | c.8511-47_8511-46delinsCG (n.8511-47_8511-46delinsCG) c.8532-47_8532-46delinsCG (n.8532-47_8532-46delinsCG) | |
7 | g.21748534G>A | CA4181617 | DNAH11 | c.8511-46G>A (n.8511-46G>A) c.8532-46G>A (n.8532-46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748534G>C | CA573292815 | DNAH11 | c.8511-46G>C (n.8511-46G>C) c.8532-46G>C (n.8532-46G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748534G= | CA1693661802 | DNAH11 | c.8511-46G= (n.8511-46G=) c.8532-46G= (n.8532-46G=) | |
7 | g.21748534G>T | CA155121186 | DNAH11 | c.8511-46G>T (n.8511-46G>T) c.8532-46G>T (n.8532-46G>T) | dbSNP gnomAD v4 |
7 | g.21748537del | CA573292814 | DNAH11 | c.8511-43del (n.8511-43del) c.8532-43del (n.8532-43del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748535G>C | CA836670057 | DNAH11 | c.8511-45G>C (n.8511-45G>C) c.8532-45G>C (n.8532-45G>C) | dbSNP |
7 | g.21748535G= | CA1693661810 | DNAH11 | c.8511-45G= (n.8511-45G=) c.8532-45G= (n.8532-45G=) | |
7 | g.21748535G>T | CA2681987025 | DNAH11 | c.8511-45G>T (n.8511-45G>T) c.8532-45G>T (n.8532-45G>T) | gnomAD v4 |
7 | g.21748536G>A | CA2681987026 | DNAH11 | c.8511-44G>A (n.8511-44G>A) c.8532-44G>A (n.8532-44G>A) | gnomAD v4 |
7 | g.21748537G>A | CA4181618 | DNAH11 | c.8511-43G>A (n.8511-43G>A) c.8532-43G>A (n.8532-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748537G= | CA1693661814 | DNAH11 | c.8511-43G= (n.8511-43G=) c.8532-43G= (n.8532-43G=) | |
7 | g.21748537G>T | CA4181619 | DNAH11 | c.8511-43G>T (n.8511-43G>T) c.8532-43G>T (n.8532-43G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748538C>A | CA2681987027 | DNAH11 | c.8511-42C>A (n.8511-42C>A) c.8532-42C>A (n.8532-42C>A) | gnomAD v4 |
7 | g.21748538C= | CA1693661822 | DNAH11 | c.8511-42C= (n.8511-42C=) c.8532-42C= (n.8532-42C=) | |
7 | g.21748538C>T | CA4181620 | DNAH11 | c.8511-42C>T (n.8511-42C>T) c.8532-42C>T (n.8532-42C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748539A= | CA1693661824 | DNAH11 | c.8511-41A= (n.8511-41A=) c.8532-41A= (n.8532-41A=) | |
7 | g.21748539A>T | CA4181621 | DNAH11 | c.8511-41A>T (n.8511-41A>T) c.8532-41A>T (n.8532-41A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748543del | CA2681987028 | DNAH11 | c.8511-37del (n.8511-37del) c.8532-37del (n.8532-37del) | gnomAD v4 |
7 | g.21748541T>C | CA2681987029 | DNAH11 | c.8511-39T>C (n.8511-39T>C) c.8532-39T>C (n.8532-39T>C) | gnomAD v4 |
7 | g.21748542T>A | CA2681987030 | DNAH11 | c.8511-38T>A (n.8511-38T>A) c.8532-38T>A (n.8532-38T>A) | gnomAD v4 |
7 | g.21748542T>C | CA2681987031 | DNAH11 | c.8511-38T>C (n.8511-38T>C) c.8532-38T>C (n.8532-38T>C) | gnomAD v4 |
7 | g.21748543T>C | CA2681987032 | DNAH11 | c.8511-37T>C (n.8511-37T>C) c.8532-37T>C (n.8532-37T>C) | gnomAD v4 |
7 | g.21748544C= | CA1693661827 | DNAH11 | c.8511-36C= (n.8511-36C=) c.8532-36C= (n.8532-36C=) | |
7 | g.21748544C>G | CA1693661829 | DNAH11 | c.8511-36C>G (n.8511-36C>G) c.8532-36C>G (n.8532-36C>G) | dbSNP |
7 | g.21748544C>T | CA4181622 | DNAH11 | c.8511-36C>T (n.8511-36C>T) c.8532-36C>T (n.8532-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748545G>A | CA4181623 | DNAH11 | c.8511-35G>A (n.8511-35G>A) c.8532-35G>A (n.8532-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748545G>C | CA2681987033 | DNAH11 | c.8511-35G>C (n.8511-35G>C) c.8532-35G>C (n.8532-35G>C) | gnomAD v4 |
7 | g.21748545G= | CA1693661835 | DNAH11 | c.8511-35G= (n.8511-35G=) c.8532-35G= (n.8532-35G=) | |
7 | g.21748545G>T | CA4181624 | DNAH11 | c.8511-35G>T (n.8511-35G>T) c.8532-35G>T (n.8532-35G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748545_21748546insT | CA2525475989 | DNAH11 | c.8511-35_8511-34insT (n.8511-35_8511-34insT) c.8532-35_8532-34insT (n.8532-35_8532-34insT) | |
7 | g.21748547T>G | CA4181625 | DNAH11 | c.8511-33T>G (n.8511-33T>G) c.8532-33T>G (n.8532-33T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748547T= | CA1693661839 | DNAH11 | c.8511-33T= (n.8511-33T=) c.8532-33T= (n.8532-33T=) | |
7 | g.21748550del | CA2681987034 | DNAH11 | c.8511-30del (n.8511-30del) c.8532-30del (n.8532-30del) | gnomAD v4 |
7 | g.21748548T>G | CA573292816 | DNAH11 | c.8511-32T>G (n.8511-32T>G) c.8532-32T>G (n.8532-32T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748548T= | CA1693661842 | DNAH11 | c.8511-32T= (n.8511-32T=) c.8532-32T= (n.8532-32T=) | |
7 | g.21748549T>C | CA155121194 | DNAH11 | c.8511-31T>C (n.8511-31T>C) c.8532-31T>C (n.8532-31T>C) | dbSNP |
7 | g.21748549T>G | CA573292817 | DNAH11 | c.8511-31T>G (n.8511-31T>G) c.8532-31T>G (n.8532-31T>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748549T= | CA1693661847 | DNAH11 | c.8511-31T= (n.8511-31T=) c.8532-31T= (n.8532-31T=) | |
7 | g.21748550T>C | CA2681987035 | DNAH11 | c.8511-30T>C (n.8511-30T>C) c.8532-30T>C (n.8532-30T>C) | gnomAD v4 |
7 | g.21748551G>A | CA155121205 | DNAH11 | c.8511-29G>A (n.8511-29G>A) c.8532-29G>A (n.8532-29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748551G>C | CA2774678365 | DNAH11 | c.8511-29G>C (n.8511-29G>C) c.8532-29G>C (n.8532-29G>C) | |
7 | g.21748551G= | CA1693661853 | DNAH11 | c.8511-29G= (n.8511-29G=) c.8532-29G= (n.8532-29G=) | |
7 | g.21748551G>T | CA4181626 | DNAH11 | c.8511-29G>T (n.8511-29G>T) c.8532-29G>T (n.8532-29G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748552T>C | CA2681987036 | DNAH11 | c.8511-28T>C (n.8511-28T>C) c.8532-28T>C (n.8532-28T>C) | gnomAD v4 |
7 | g.21748554C>A | CA2681987037 | DNAH11 | c.8511-26C>A (n.8511-26C>A) c.8532-26C>A (n.8532-26C>A) | gnomAD v4 |
7 | g.21748554C>T | CA2681987038 | DNAH11 | c.8511-26C>T (n.8511-26C>T) c.8532-26C>T (n.8532-26C>T) | gnomAD v4 |
7 | g.21748555C>A | CA2681987039 | DNAH11 | c.8511-25C>A (n.8511-25C>A) c.8532-25C>A (n.8532-25C>A) | gnomAD v4 |
7 | g.21748555C= | CA1693661856 | DNAH11 | c.8511-25C= (n.8511-25C=) c.8532-25C= (n.8532-25C=) | |
7 | g.21748555C>T | CA4181627 | DNAH11 | c.8511-25C>T (n.8511-25C>T) c.8532-25C>T (n.8532-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748556A= | CA1693661862 | DNAH11 | c.8511-24A= (n.8511-24A=) c.8532-24A= (n.8532-24A=) | |
7 | g.21748556A>G | CA4181628 | DNAH11 | c.8511-24A>G (n.8511-24A>G) c.8532-24A>G (n.8532-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748558A= | CA1693661864 | DNAH11 | c.8511-22A= (n.8511-22A=) c.8532-22A= (n.8532-22A=) | |
7 | g.21748558A>G | CA1693661865 | DNAH11 | c.8511-22A>G (n.8511-22A>G) c.8532-22A>G (n.8532-22A>G) | dbSNP gnomAD v4 |
7 | g.21748559A= | CA1693661868 | DNAH11 | c.8511-21A= (n.8511-21A=) c.8532-21A= (n.8532-21A=) | |
7 | g.21748559A>G | CA573292818 | DNAH11 | c.8511-21A>G (n.8511-21A>G) c.8532-21A>G (n.8532-21A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748560T>C | CA573292819 | DNAH11 | c.8511-20T>C (n.8511-20T>C) c.8532-20T>C (n.8532-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748560T= | CA1693661871 | DNAH11 | c.8511-20T= (n.8511-20T=) c.8532-20T= (n.8532-20T=) | |
7 | g.21748561G>C | CA573292820 | DNAH11 | c.8511-19G>C (n.8511-19G>C) c.8532-19G>C (n.8532-19G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748561G= | CA1693661873 | DNAH11 | c.8511-19G= (n.8511-19G=) c.8532-19G= (n.8532-19G=) | |
7 | g.21748562G= | CA1693661876 | DNAH11 | c.8511-18G= (n.8511-18G=) c.8532-18G= (n.8532-18G=) | |
7 | g.21748562G>T | CA836670078 | DNAH11 | c.8511-18G>T (n.8511-18G>T) c.8532-18G>T (n.8532-18G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748563G>A | CA2681987040 | DNAH11 | c.8511-17G>A (n.8511-17G>A) c.8532-17G>A (n.8532-17G>A) | gnomAD v4 |
7 | g.21748563G>T | CA2681987041 | DNAH11 | c.8511-17G>T (n.8511-17G>T) c.8532-17G>T (n.8532-17G>T) | ClinVar gnomAD v4 |
7 | g.21748565_21748566del | CA2774678366 | DNAH11 | c.8511-15_8511-14del (n.8511-15_8511-14del) c.8532-15_8532-14del (n.8532-15_8532-14del) | |
7 | g.21748564C>A | CA2681987042 | DNAH11 | c.8511-16C>A (n.8511-16C>A) c.8532-16C>A (n.8532-16C>A) | gnomAD v4 |
7 | g.21748564C= | CA1693661880 | DNAH11 | c.8511-16C= (n.8511-16C=) c.8532-16C= (n.8532-16C=) | |
7 | g.21748564C>T | CA4181629 | DNAH11 | c.8511-16C>T (n.8511-16C>T) c.8532-16C>T (n.8532-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748565G>A | CA4181630 | DNAH11 | c.8511-15G>A (n.8511-15G>A) c.8532-15G>A (n.8532-15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21748565G>C | CA2578843333 | DNAH11 | c.8511-15G>C (n.8511-15G>C) c.8532-15G>C (n.8532-15G>C) | |
7 | g.21748565G= | CA1693661891 | DNAH11 | c.8511-15G= (n.8511-15G=) c.8532-15G= (n.8532-15G=) | |
7 | g.21748565G>T | CA4181631 | DNAH11 | c.8511-15G>T (n.8511-15G>T) c.8532-15G>T (n.8532-15G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748566del | CA2739266275 | DNAH11 | c.8511-14del (n.8511-14del) c.8532-14del (n.8532-14del) | ClinVar |
7 | g.21748566C>A | CA2681987043 | DNAH11 | c.8511-14C>A (n.8511-14C>A) c.8532-14C>A (n.8532-14C>A) | gnomAD v4 |
7 | g.21748567T>C | CA2681987044 | DNAH11 | c.8511-13T>C (n.8511-13T>C) c.8532-13T>C (n.8532-13T>C) | gnomAD v4 |
7 | g.21748568T>C | CA2681987045 | DNAH11 | c.8511-12T>C (n.8511-12T>C) c.8532-12T>C (n.8532-12T>C) | gnomAD v4 |
7 | g.21748569C>A | CA2681987046 | DNAH11 | c.8511-11C>A (n.8511-11C>A) c.8532-11C>A (n.8532-11C>A) | gnomAD v4 |
7 | g.21748569C>T | CA2681987047 | DNAH11 | c.8511-11C>T (n.8511-11C>T) c.8532-11C>T (n.8532-11C>T) | gnomAD v4 |
7 | g.21748570C>G | CA2681987048 | DNAH11 | c.8511-10C>G (n.8511-10C>G) c.8532-10C>G (n.8532-10C>G) | gnomAD v4 |
7 | g.21748570C>T | CA2681987049 | DNAH11 | c.8511-10C>T (n.8511-10C>T) c.8532-10C>T (n.8532-10C>T) | gnomAD v4 |
7 | g.21748571T>C | CA155121235 | DNAH11 | c.8511-9T>C (n.8511-9T>C) c.8532-9T>C (n.8532-9T>C) | dbSNP gnomAD v4 |
7 | g.21748571T= | CA1693661897 | DNAH11 | c.8511-9T= (n.8511-9T=) c.8532-9T= (n.8532-9T=) | |
7 | g.21748573del | CA2681987050 | DNAH11 | c.8511-7del (n.8511-7del) c.8532-7del (n.8532-7del) | gnomAD v4 |
7 | g.21748572T>C | CA1693661899 | DNAH11 | c.8511-8T>C (n.8511-8T>C) c.8532-8T>C (n.8532-8T>C) | ClinVar dbSNP |
7 | g.21748572T= | CA1693661906 | DNAH11 | c.8511-8T= (n.8511-8T=) c.8532-8T= (n.8532-8T=) | |
7 | g.21748573T>G | CA4181632 | DNAH11 | c.8511-7T>G (n.8511-7T>G) c.8532-7T>G (n.8532-7T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748573T= | CA1693661912 | DNAH11 | c.8511-7T= (n.8511-7T=) c.8532-7T= (n.8532-7T=) | |
7 | g.21748574C>A | CA2681987051 | DNAH11 | c.8511-6C>A (n.8511-6C>A) c.8532-6C>A (n.8532-6C>A) | gnomAD v4 |
7 | g.21748575C>A | CA2681987052 | DNAH11 | c.8511-5C>A (n.8511-5C>A) c.8532-5C>A (n.8532-5C>A) | gnomAD v4 |
7 | g.21748575C= | CA1693661914 | DNAH11 | c.8511-5C= (n.8511-5C=) c.8532-5C= (n.8532-5C=) | |
7 | g.21748575C>T | CA4181633 | DNAH11 | c.8511-5C>T (n.8511-5C>T) c.8532-5C>T (n.8532-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748576T>C | CA2681987053 | DNAH11 | c.8511-4T>C (n.8511-4T>C) c.8532-4T>C (n.8532-4T>C) | gnomAD v4 |
7 | g.21748577C>A | CA2681987054 | DNAH11 | c.8511-3C>A (n.8511-3C>A) c.8532-3C>A (n.8532-3C>A) | gnomAD v4 |
7 | g.21748578A>C | CA366955028 | DNAH11 | c.8511-2A>C (n.8511-2A>C) c.8532-2A>C (n.8532-2A>C) | |
7 | g.21748578A>G | CA366955029 | DNAH11 | c.8511-2A>G (n.8511-2A>G) c.8532-2A>G (n.8532-2A>G) | gnomAD v4 |
7 | g.21748578A>T | CA366955030 | DNAH11 | c.8511-2A>T (n.8511-2A>T) c.8532-2A>T (n.8532-2A>T) | |
7 | g.21748579G>A | CA366955031 | DNAH11 | c.8511-1G>A (n.8511-1G>A) c.8532-1G>A (n.8532-1G>A) | |
7 | g.21748579G>C | CA366955032 | DNAH11 | c.8511-1G>C (n.8511-1G>C) c.8532-1G>C (n.8532-1G>C) | ClinVar dbSNP |
7 | g.21748579G>T | CA366955033 | DNAH11 | c.8511-1G>T (n.8511-1G>T) c.8532-1G>T (n.8532-1G>T) | |
7 | g.21748580G>A | CA453968424 | DNAH11 | c.8511G>A (p.Val2837=) c.8532G>A (p.Val2844=) | gnomAD v4 |
7 | g.21748580G>C | CA453968425 | DNAH11 | c.8511G>C (p.Val2837=) c.8532G>C (p.Val2844=) | gnomAD v4 |
7 | g.21748580G>T | CA453968426 | DNAH11 | c.8511G>T (p.Val2837=) c.8532G>T (p.Val2844=) | |
7 | g.21748580_21748583delinsATCCG | CA2695207509 | DNAH11 | c.8511_8514delinsATCCG (p.Cys2838SerfsTer?) c.8532_8535delinsATCCG (p.Cys2845SerfsTer?) | |
7 | g.21748581T>A | CA366955034 | DNAH11 | c.8512T>A (p.Cys2838Ser) c.8533T>A (p.Cys2845Ser) | |
7 | g.21748581T>C | CA366955035 | DNAH11 | c.8512T>C (p.Cys2838Arg) c.8533T>C (p.Cys2845Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748581T>G | CA366955036 | DNAH11 | c.8512T>G (p.Cys2838Gly) c.8533T>G (p.Cys2845Gly) | |
7 | g.21748581T= | CA1693661919 | DNAH11 | c.8512T= (p.Cys2838=) c.8533T= (p.Cys2845=) | |
7 | g.21748582G>A | CA366955038 | DNAH11 | c.8513G>A (p.Cys2838Tyr) c.8534G>A (p.Cys2845Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748582G>C | CA366955039 | DNAH11 | c.8513G>C (p.Cys2838Ser) c.8534G>C (p.Cys2845Ser) | |
7 | g.21748582G= | CA1693661925 | DNAH11 | c.8513G= (p.Cys2838=) c.8534G= (p.Cys2845=) | |
7 | g.21748582G>T | CA366955037 | DNAH11 | c.8513G>T (p.Cys2838Phe) c.8534G>T (p.Cys2845Phe) | gnomAD v4 |
7 | g.21748583T>A | CA366955040 | DNAH11 | c.8514T>A (p.Cys2838Ter) c.8535T>A (p.Cys2845Ter) | |
7 | g.21748583T>C | CA453968427 | DNAH11 | c.8514T>C (p.Cys2838=) c.8535T>C (p.Cys2845=) | |
7 | g.21748583T>G | CA366955041 | DNAH11 | c.8514T>G (p.Cys2838Trp) c.8535T>G (p.Cys2845Trp) | |
7 | g.21748584C>A | CA366955042 | DNAH11 | c.8515C>A (p.Arg2839Ser) c.8536C>A (p.Arg2846Ser) | gnomAD v4 |
7 | g.21748584C= | CA1693661935 | DNAH11 | c.8515C= (p.Arg2839=) c.8536C= (p.Arg2846=) | |
7 | g.21748584C>G | CA366955043 | DNAH11 | c.8515C>G (p.Arg2839Gly) c.8536C>G (p.Arg2846Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748584C>T | CA4181634 | DNAH11 | c.8515C>T (p.Arg2839Cys) c.8536C>T (p.Arg2846Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21748585G>A | CA366955046 | DNAH11 | c.8516G>A (p.Arg2839His) c.8537G>A (p.Arg2846His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21748585G>C | CA366955044 | DNAH11 | c.8516G>C (p.Arg2839Pro) c.8537G>C (p.Arg2846Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748585G= | CA1693661941 | DNAH11 | c.8516G= (p.Arg2839=) c.8537G= (p.Arg2846=) | |
7 | g.21748585G>T | CA366955045 | DNAH11 | c.8516G>T (p.Arg2839Leu) c.8537G>T (p.Arg2846Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.21748586C>A | CA453968428 | DNAH11 | c.8517C>A (p.Arg2839=) c.8538C>A (p.Arg2846=) | gnomAD v4 |
7 | g.21748586C>G | CA453968429 | DNAH11 | c.8517C>G (p.Arg2839=) c.8538C>G (p.Arg2846=) | |
7 | g.21748586C>T | CA453968430 | DNAH11 | c.8517C>T (p.Arg2839=) c.8538C>T (p.Arg2846=) | ClinVar gnomAD v4 |
7 | g.21748587A>C | CA366955047 | DNAH11 | c.8518A>C (p.Ile2840Leu) c.8539A>C (p.Ile2847Leu) | |
7 | g.21748587A>G | CA366955048 | DNAH11 | c.8518A>G (p.Ile2840Val) c.8539A>G (p.Ile2847Val) | gnomAD v4 |
7 | g.21748587A>T | CA366955049 | DNAH11 | c.8518A>T (p.Ile2840Phe) c.8539A>T (p.Ile2847Phe) | |
7 | g.21748588T>A | CA366955050 | DNAH11 | c.8519T>A (p.Ile2840Asn) c.8540T>A (p.Ile2847Asn) | gnomAD v4 |
7 | g.21748588T>C | CA366955051 | DNAH11 | c.8519T>C (p.Ile2840Thr) c.8540T>C (p.Ile2847Thr) | |
7 | g.21748588T>G | CA366955052 | DNAH11 | c.8519T>G (p.Ile2840Ser) c.8540T>G (p.Ile2847Ser) | |
7 | g.21748589C>A | CA453968431 | DNAH11 | c.8520C>A (p.Ile2840=) c.8541C>A (p.Ile2847=) | gnomAD v4 |
7 | g.21748589C>G | CA366955053 | DNAH11 | c.8520C>G (p.Ile2840Met) c.8541C>G (p.Ile2847Met) | |
7 | g.21748589C>T | CA453968432 | DNAH11 | c.8520C>T (p.Ile2840=) c.8541C>T (p.Ile2847=) | |
7 | g.21748590A= | CA1693661957 | DNAH11 | c.8521A= (p.Ser2841=) c.8542A= (p.Ser2848=) | |
7 | g.21748590A>C | CA366955054 | DNAH11 | c.8521A>C (p.Ser2841Arg) c.8542A>C (p.Ser2848Arg) | |
7 | g.21748590A>G | CA4181635 | DNAH11 | c.8521A>G (p.Ser2841Gly) c.8542A>G (p.Ser2848Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748590A>T | CA366955055 | DNAH11 | c.8521A>T (p.Ser2841Cys) c.8542A>T (p.Ser2848Cys) | |
7 | g.21748591G>A | CA366955056 | DNAH11 | c.8522G>A (p.Ser2841Asn) c.8543G>A (p.Ser2848Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748591G>C | CA366955057 | DNAH11 | c.8522G>C (p.Ser2841Thr) c.8543G>C (p.Ser2848Thr) | dbSNP |
7 | g.21748591G= | CA1693661964 | DNAH11 | c.8522G= (p.Ser2841=) c.8543G= (p.Ser2848=) | |
7 | g.21748591G>T | CA366955058 | DNAH11 | c.8522G>T (p.Ser2841Ile) c.8543G>T (p.Ser2848Ile) | gnomAD v4 |
7 | g.21748592C>A | CA366955059 | DNAH11 | c.8523C>A (p.Ser2841Arg) c.8544C>A (p.Ser2848Arg) | gnomAD v4 |
7 | g.21748592C>G | CA366955060 | DNAH11 | c.8523C>G (p.Ser2841Arg) c.8544C>G (p.Ser2848Arg) | |
7 | g.21748592C>T | CA453968433 | DNAH11 | c.8523C>T (p.Ser2841=) c.8544C>T (p.Ser2848=) | gnomAD v4 COSMIC COSMIC |
7 | g.21748593C>A | CA453968434 | DNAH11 | c.8524C>A (p.Arg2842=) c.8545C>A (p.Arg2849=) | |
7 | g.21748593C= | CA1693661969 | DNAH11 | c.8524C= (p.Arg2842=) c.8545C= (p.Arg2849=) | |
7 | g.21748593C>G | CA366955061 | DNAH11 | c.8524C>G (p.Arg2842Gly) c.8545C>G (p.Arg2849Gly) | dbSNP gnomAD v4 |
7 | g.21748593C>T | CA366955062 | DNAH11 | c.8524C>T (p.Arg2842Trp) c.8545C>T (p.Arg2849Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748594G>A | CA4181636 | DNAH11 | c.8525G>A (p.Arg2842Gln) c.8546G>A (p.Arg2849Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21748594G>C | CA366955063 | DNAH11 | c.8525G>C (p.Arg2842Pro) c.8546G>C (p.Arg2849Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748594G= | CA1693661981 | DNAH11 | c.8525G= (p.Arg2842=) c.8546G= (p.Arg2849=) | |
7 | g.21748594G>T | CA366955064 | DNAH11 | c.8525G>T (p.Arg2842Leu) c.8546G>T (p.Arg2849Leu) | |
7 | g.21748595del | CA2681987055 | DNAH11 | c.8526del (p.Ile2843SerfsTer?) c.8547del (p.Ile2850SerfsTer?) | gnomAD v4 |
7 | g.21748595G>A | CA453968435 | DNAH11 | c.8526G>A (p.Arg2842=) c.8547G>A (p.Arg2849=) | gnomAD v4 |
7 | g.21748595G>C | CA453968436 | DNAH11 | c.8526G>C (p.Arg2842=) c.8547G>C (p.Arg2849=) | gnomAD v4 |
7 | g.21748595G>T | CA453968437 | DNAH11 | c.8526G>T (p.Arg2842=) c.8547G>T (p.Arg2849=) | |
7 | g.21748596A= | CA1693661987 | DNAH11 | c.8527A= (p.Ile2843=) c.8548A= (p.Ile2850=) | |
7 | g.21748596A>C | CA366955065 | DNAH11 | c.8527A>C (p.Ile2843Leu) c.8548A>C (p.Ile2850Leu) | |
7 | g.21748596A>G | CA4181637 | DNAH11 | c.8527A>G (p.Ile2843Val) c.8548A>G (p.Ile2850Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748596A>T | CA366955066 | DNAH11 | c.8527A>T (p.Ile2843Phe) c.8548A>T (p.Ile2850Phe) | |
7 | g.21748597T>A | CA366955067 | DNAH11 | c.8528T>A (p.Ile2843Asn) c.8549T>A (p.Ile2850Asn) | |
7 | g.21748597T>C | CA366955069 | DNAH11 | c.8528T>C (p.Ile2843Thr) c.8549T>C (p.Ile2850Thr) | |
7 | g.21748597T>G | CA366955068 | DNAH11 | c.8528T>G (p.Ile2843Ser) c.8549T>G (p.Ile2850Ser) | |
7 | g.21748598C>A | CA453968438 | DNAH11 | c.8529C>A (p.Ile2843=) c.8550C>A (p.Ile2850=) | gnomAD v4 |
7 | g.21748598C>G | CA366955070 | DNAH11 | c.8529C>G (p.Ile2843Met) c.8550C>G (p.Ile2850Met) | |
7 | g.21748598C>T | CA453968439 | DNAH11 | c.8529C>T (p.Ile2843=) c.8550C>T (p.Ile2850=) | |
7 | g.21748599T>A | CA155121247 | DNAH11 | c.8530T>A (p.Leu2844Ile) c.8551T>A (p.Leu2851Ile) | dbSNP |
7 | g.21748599T>C | CA453968440 | DNAH11 | c.8530T>C (p.Leu2844=) c.8551T>C (p.Leu2851=) | gnomAD v4 |
7 | g.21748599T>G | CA366955071 | DNAH11 | c.8530T>G (p.Leu2844Val) c.8551T>G (p.Leu2851Val) | |
7 | g.21748599T= | CA1693661992 | DNAH11 | c.8530T= (p.Leu2844=) c.8551T= (p.Leu2851=) | |
7 | g.21748600T>A | CA366955072 | DNAH11 | c.8531T>A (p.Leu2844Ter) c.8552T>A (p.Leu2851Ter) | |
7 | g.21748600T>C | CA366955073 | DNAH11 | c.8531T>C (p.Leu2844Ser) c.8552T>C (p.Leu2851Ser) | gnomAD v4 |
7 | g.21748600T>G | CA366955074 | DNAH11 | c.8531T>G (p.Leu2844Ter) c.8552T>G (p.Leu2851Ter) | |
7 | g.21748601A>C | CA366955075 | DNAH11 | c.8532A>C (p.Leu2844Phe) c.8553A>C (p.Leu2851Phe) | |
7 | g.21748601A>G | CA453968441 | DNAH11 | c.8532A>G (p.Leu2844=) c.8553A>G (p.Leu2851=) | |
7 | g.21748601A>T | CA366955076 | DNAH11 | c.8532A>T (p.Leu2844Phe) c.8553A>T (p.Leu2851Phe) | |
7 | g.21748602C>A | CA16612080 | DNAH11 | c.8533C>A (p.Arg2845=) c.8554C>A (p.Arg2852=) | ClinVar dbSNP gnomAD v4 |
7 | g.21748602C= | CA1693662011 | DNAH11 | c.8533C= (p.Arg2845=) c.8554C= (p.Arg2852=) | |
7 | g.21748602C>G | CA4181638 | DNAH11 | c.8533C>G (p.Arg2845Gly) c.8554C>G (p.Arg2852Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748602C>T | CA340592 | DNAH11 | c.8533C>T (p.Arg2845Ter) c.8554C>T (p.Arg2852Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748603G>A | CA4181639 | DNAH11 | c.8534G>A (p.Arg2845Gln) c.8555G>A (p.Arg2852Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21748603G>C | CA366955079 | DNAH11 | c.8534G>C (p.Arg2845Pro) c.8555G>C (p.Arg2852Pro) | |
7 | g.21748603G= | CA1693662021 | DNAH11 | c.8534G= (p.Arg2845=) c.8555G= (p.Arg2852=) | |
7 | g.21748603G>T | CA366955077 | DNAH11 | c.8534G>T (p.Arg2845Leu) c.8555G>T (p.Arg2852Leu) | |
7 | g.21748604A>C | CA453968444 | DNAH11 | c.8535A>C (p.Arg2845=) c.8556A>C (p.Arg2852=) | |
7 | g.21748604A>G | CA453968443 | DNAH11 | c.8535A>G (p.Arg2845=) c.8556A>G (p.Arg2852=) | |
7 | g.21748604A>T | CA453968442 | DNAH11 | c.8535A>T (p.Arg2845=) c.8556A>T (p.Arg2852=) | |
7 | g.21748605A= | CA1693662030 | DNAH11 | c.8536A= (p.Thr2846=) c.8557A= (p.Thr2853=) | |
7 | g.21748605A>C | CA366955080 | DNAH11 | c.8536A>C (p.Thr2846Pro) c.8557A>C (p.Thr2853Pro) | |
7 | g.21748605A>G | CA366955081 | DNAH11 | c.8536A>G (p.Thr2846Ala) c.8557A>G (p.Thr2853Ala) | gnomAD v4 |
7 | g.21748605A>T | CA4181640 | DNAH11 | c.8536A>T (p.Thr2846Ser) c.8557A>T (p.Thr2853Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748606C>A | CA366955082 | DNAH11 | c.8537C>A (p.Thr2846Asn) c.8558C>A (p.Thr2853Asn) | gnomAD v4 |
7 | g.21748606C>G | CA366955083 | DNAH11 | c.8537C>G (p.Thr2846Ser) c.8558C>G (p.Thr2853Ser) | gnomAD v4 |
7 | g.21748606C>T | CA366955084 | DNAH11 | c.8537C>T (p.Thr2846Ile) c.8558C>T (p.Thr2853Ile) | gnomAD v4 |
7 | g.21748607C>A | CA453968447 | DNAH11 | c.8538C>A (p.Thr2846=) c.8559C>A (p.Thr2853=) | gnomAD v4 |
7 | g.21748607C>G | CA453968446 | DNAH11 | c.8538C>G (p.Thr2846=) c.8559C>G (p.Thr2853=) | |
7 | g.21748607C>T | CA453968445 | DNAH11 | c.8538C>T (p.Thr2846=) c.8559C>T (p.Thr2853=) | gnomAD v4 |
7 | g.21748608C>A | CA366955085 | DNAH11 | c.8539C>A (p.Pro2847Thr) c.8560C>A (p.Pro2854Thr) | gnomAD v4 |
7 | g.21748608C= | CA1693662035 | DNAH11 | c.8539C= (p.Pro2847=) c.8560C= (p.Pro2854=) | |
7 | g.21748608C>G | CA366955086 | DNAH11 | c.8539C>G (p.Pro2847Ala) c.8560C>G (p.Pro2854Ala) | ClinVar gnomAD v4 |
7 | g.21748608C>T | CA366955087 | DNAH11 | c.8539C>T (p.Pro2847Ser) c.8560C>T (p.Pro2854Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748609C>A | CA366955088 | DNAH11 | c.8540C>A (p.Pro2847His) c.8561C>A (p.Pro2854His) | gnomAD v4 |
7 | g.21748609C>G | CA366955089 | DNAH11 | c.8540C>G (p.Pro2847Arg) c.8561C>G (p.Pro2854Arg) | |
7 | g.21748609C>T | CA366955090 | DNAH11 | c.8540C>T (p.Pro2847Leu) c.8561C>T (p.Pro2854Leu) | |
7 | g.21748610T>A | CA453968448 | DNAH11 | c.8541T>A (p.Pro2847=) c.8562T>A (p.Pro2854=) | |
7 | g.21748610T>C | CA453968450 | DNAH11 | c.8541T>C (p.Pro2847=) c.8562T>C (p.Pro2854=) | |
7 | g.21748610T>G | CA453968449 | DNAH11 | c.8541T>G (p.Pro2847=) c.8562T>G (p.Pro2854=) | gnomAD v4 |
7 | g.21748611C>A | CA366955092 | DNAH11 | c.8542C>A (p.Gln2848Lys) c.8563C>A (p.Gln2855Lys) | |
7 | g.21748611C>G | CA366955093 | DNAH11 | c.8542C>G (p.Gln2848Glu) c.8563C>G (p.Gln2855Glu) | |
7 | g.21748611C>T | CA366955091 | DNAH11 | c.8542C>T (p.Gln2848Ter) c.8563C>T (p.Gln2855Ter) | |
7 | g.21748612A>C | CA366955094 | DNAH11 | c.8543A>C (p.Gln2848Pro) c.8564A>C (p.Gln2855Pro) | |
7 | g.21748612A>G | CA366955095 | DNAH11 | c.8543A>G (p.Gln2848Arg) c.8564A>G (p.Gln2855Arg) | |
7 | g.21748612A>T | CA366955096 | DNAH11 | c.8543A>T (p.Gln2848Leu) c.8564A>T (p.Gln2855Leu) | COSMIC COSMIC |
7 | g.21748613G>A | CA453968451 | DNAH11 | c.8544G>A (p.Gln2848=) c.8565G>A (p.Gln2855=) | |
7 | g.21748613G>C | CA366955097 | DNAH11 | c.8544G>C (p.Gln2848His) c.8565G>C (p.Gln2855His) | gnomAD v4 COSMIC COSMIC |
7 | g.21748613G>T | CA366955098 | DNAH11 | c.8544G>T (p.Gln2848His) c.8565G>T (p.Gln2855His) | |
7 | g.21748614G>A | CA366955100 | DNAH11 | c.8545G>A (p.Gly2849Ser) c.8566G>A (p.Gly2856Ser) | gnomAD v4 |
7 | g.21748614G>C | CA366955099 | DNAH11 | c.8545G>C (p.Gly2849Arg) c.8566G>C (p.Gly2856Arg) | |
7 | g.21748614G= | CA1693662038 | DNAH11 | c.8545G= (p.Gly2849=) c.8566G= (p.Gly2856=) | |
7 | g.21748614G>T | CA4181641 | DNAH11 | c.8545G>T (p.Gly2849Cys) c.8566G>T (p.Gly2856Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748615G>A | CA366955101 | DNAH11 | c.8546G>A (p.Gly2849Asp) c.8567G>A (p.Gly2856Asp) | gnomAD v4 |
7 | g.21748615G>C | CA366955102 | DNAH11 | c.8546G>C (p.Gly2849Ala) c.8567G>C (p.Gly2856Ala) | |
7 | g.21748615G>T | CA366955103 | DNAH11 | c.8546G>T (p.Gly2849Val) c.8567G>T (p.Gly2856Val) | |
7 | g.21748616C>A | CA453968452 | DNAH11 | c.8547C>A (p.Gly2849=) c.8568C>A (p.Gly2856=) | dbSNP |
7 | g.21748616C= | CA1693662041 | DNAH11 | c.8547C= (p.Gly2849=) c.8568C= (p.Gly2856=) | |
7 | g.21748616C>G | CA453968453 | DNAH11 | c.8547C>G (p.Gly2849=) c.8568C>G (p.Gly2856=) | |
7 | g.21748616C>T | CA453968454 | DNAH11 | c.8547C>T (p.Gly2849=) c.8568C>T (p.Gly2856=) | |
7 | g.21748617T>A | CA366955104 | DNAH11 | c.8548T>A (p.Cys2850Ser) c.8569T>A (p.Cys2857Ser) | |
7 | g.21748617T>C | CA366955105 | DNAH11 | c.8548T>C (p.Cys2850Arg) c.8569T>C (p.Cys2857Arg) | |
7 | g.21748617T>G | CA366955106 | DNAH11 | c.8548T>G (p.Cys2850Gly) c.8569T>G (p.Cys2857Gly) | |
7 | g.21748618G>A | CA4181642 | DNAH11 | c.8549G>A (p.Cys2850Tyr) c.8570G>A (p.Cys2857Tyr) | dbSNP ExAC gnomAD v2 |
7 | g.21748618G>C | CA366955108 | DNAH11 | c.8549G>C (p.Cys2850Ser) c.8570G>C (p.Cys2857Ser) | |
7 | g.21748618G= | CA1693662044 | DNAH11 | c.8549G= (p.Cys2850=) c.8570G= (p.Cys2857=) | |
7 | g.21748618G>T | CA366955107 | DNAH11 | c.8549G>T (p.Cys2850Phe) c.8570G>T (p.Cys2857Phe) | |
7 | g.21748619T>A | CA366955109 | DNAH11 | c.8550T>A (p.Cys2850Ter) c.8571T>A (p.Cys2857Ter) | |
7 | g.21748619T>C | CA155121256 | DNAH11 | c.8550T>C (p.Cys2850=) c.8571T>C (p.Cys2857=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748619T>G | CA366955110 | DNAH11 | c.8550T>G (p.Cys2850Trp) c.8571T>G (p.Cys2857Trp) | |
7 | g.21748619T= | CA1693662047 | DNAH11 | c.8550T= (p.Cys2850=) c.8571T= (p.Cys2857=) | |
7 | g.21748620_21748622del | CA2578843334 | DNAH11 | c.8551_8553del (p.Ala2851del) c.8572_8574del (p.Ala2858del) | |
7 | g.21748620G>A | CA366955111 | DNAH11 | c.8551G>A (p.Ala2851Thr) c.8572G>A (p.Ala2858Thr) | gnomAD v4 COSMIC COSMIC |
7 | g.21748620G>C | CA366955112 | DNAH11 | c.8551G>C (p.Ala2851Pro) c.8572G>C (p.Ala2858Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748620G= | CA1693662051 | DNAH11 | c.8551G= (p.Ala2851=) c.8572G= (p.Ala2858=) | |
7 | g.21748620G>T | CA366955113 | DNAH11 | c.8551G>T (p.Ala2851Ser) c.8572G>T (p.Ala2858Ser) | |
7 | g.21748621C>A | CA366955114 | DNAH11 | c.8552C>A (p.Ala2851Asp) c.8573C>A (p.Ala2858Asp) | |
7 | g.21748621C= | CA1693662059 | DNAH11 | c.8552C= (p.Ala2851=) c.8573C= (p.Ala2858=) | |
7 | g.21748621C>G | CA4181643 | DNAH11 | c.8552C>G (p.Ala2851Gly) c.8573C>G (p.Ala2858Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748621C>T | CA366955115 | DNAH11 | c.8552C>T (p.Ala2851Val) c.8573C>T (p.Ala2858Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748622T>A | CA453968457 | DNAH11 | c.8553T>A (p.Ala2851=) c.8574T>A (p.Ala2858=) | |
7 | g.21748622T>C | CA453968458 | DNAH11 | c.8553T>C (p.Ala2851=) c.8574T>C (p.Ala2858=) | |
7 | g.21748622T>G | CA453968460 | DNAH11 | c.8553T>G (p.Ala2851=) c.8574T>G (p.Ala2858=) | ClinVar dbSNP |
7 | g.21748623C>A | CA366955116 | DNAH11 | c.8554C>A (p.Leu2852Ile) c.8575C>A (p.Leu2859Ile) | |
7 | g.21748623C= | CA1693662065 | DNAH11 | c.8554C= (p.Leu2852=) c.8575C= (p.Leu2859=) | |
7 | g.21748623C>G | CA366955117 | DNAH11 | c.8554C>G (p.Leu2852Val) c.8575C>G (p.Leu2859Val) | ClinVar dbSNP |
7 | g.21748623C>T | CA366955118 | DNAH11 | c.8554C>T (p.Leu2852Phe) c.8575C>T (p.Leu2859Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748624T>A | CA4181644 | DNAH11 | c.8555T>A (p.Leu2852His) c.8576T>A (p.Leu2859His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748624T>C | CA366955119 | DNAH11 | c.8555T>C (p.Leu2852Pro) c.8576T>C (p.Leu2859Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748624T>G | CA366955120 | DNAH11 | c.8555T>G (p.Leu2852Arg) c.8576T>G (p.Leu2859Arg) | |
7 | g.21748624T= | CA1693662073 | DNAH11 | c.8555T= (p.Leu2852=) c.8576T= (p.Leu2859=) | |
7 | g.21748625C>A | CA453968465 | DNAH11 | c.8556C>A (p.Leu2852=) c.8577C>A (p.Leu2859=) | |
7 | g.21748625C>G | CA453968467 | DNAH11 | c.8556C>G (p.Leu2852=) c.8577C>G (p.Leu2859=) | |
7 | g.21748625C>T | CA453968463 | DNAH11 | c.8556C>T (p.Leu2852=) c.8577C>T (p.Leu2859=) | |
7 | g.21748626T>A | CA366955122 | DNAH11 | c.8557T>A (p.Leu2853Met) c.8578T>A (p.Leu2860Met) | |
7 | g.21748626T>C | CA453968469 | DNAH11 | c.8557T>C (p.Leu2853=) c.8578T>C (p.Leu2860=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748626T>G | CA366955121 | DNAH11 | c.8557T>G (p.Leu2853Val) c.8578T>G (p.Leu2860Val) | |
7 | g.21748626T= | CA1693662076 | DNAH11 | c.8557T= (p.Leu2853=) c.8578T= (p.Leu2860=) | |
7 | g.21748627T>A | CA366955123 | DNAH11 | c.8558T>A (p.Leu2853Ter) c.8579T>A (p.Leu2860Ter) | |
7 | g.21748627T>C | CA155121273 | DNAH11 | c.8558T>C (p.Leu2853Ser) c.8579T>C (p.Leu2860Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.21748627T>G | CA366955124 | DNAH11 | c.8558T>G (p.Leu2853Trp) c.8579T>G (p.Leu2860Trp) | ClinVar dbSNP |
7 | g.21748627T= | CA1693662079 | DNAH11 | c.8558T= (p.Leu2853=) c.8579T= (p.Leu2860=) |