Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21749625_21749626del | CA2681987241 | DNAH11 | c.8674-53_8674-52del (n.8674-53_8674-52del) c.8695-53_8695-52del (n.8695-53_8695-52del) | gnomAD v4 |
7 | g.21749625T>C | CA2578843357 | DNAH11 | c.8674-53T>C (n.8674-53T>C) c.8695-53T>C (n.8695-53T>C) | |
7 | g.21749626C>A | CA2681987245 | DNAH11 | c.8674-52C>A (n.8674-52C>A) c.8695-52C>A (n.8695-52C>A) | gnomAD v4 |
7 | g.21749626C= | CA1693663029 | DNAH11 | c.8674-52C= (n.8674-52C=) c.8695-52C= (n.8695-52C=) | |
7 | g.21749626C>T | CA836670864 | DNAH11 | c.8674-52C>T (n.8674-52C>T) c.8695-52C>T (n.8695-52C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749628A>G | CA2681987246 | DNAH11 | c.8674-50A>G (n.8674-50A>G) c.8695-50A>G (n.8695-50A>G) | gnomAD v4 |
7 | g.21749629C>A | CA4181678 | DNAH11 | c.8674-49C>A (n.8674-49C>A) c.8695-49C>A (n.8695-49C>A) | dbSNP ExAC gnomAD v2 |
7 | g.21749629C= | CA1693663031 | DNAH11 | c.8674-49C= (n.8674-49C=) c.8695-49C= (n.8695-49C=) | |
7 | g.21749629C>T | CA4181677 | DNAH11 | c.8674-49C>T (n.8674-49C>T) c.8695-49C>T (n.8695-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749630G>A | CA155122069 | DNAH11 | c.8674-48G>A (n.8674-48G>A) c.8695-48G>A (n.8695-48G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749630G= | CA1693663034 | DNAH11 | c.8674-48G= (n.8674-48G=) c.8695-48G= (n.8695-48G=) | |
7 | g.21749632C= | CA1693663036 | DNAH11 | c.8674-46C= (n.8674-46C=) c.8695-46C= (n.8695-46C=) | |
7 | g.21749632C>T | CA4181679 | DNAH11 | c.8674-46C>T (n.8674-46C>T) c.8695-46C>T (n.8695-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749633G>A | CA4181680 | DNAH11 | c.8674-45G>A (n.8674-45G>A) c.8695-45G>A (n.8695-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749633G= | CA1693663038 | DNAH11 | c.8674-45G= (n.8674-45G=) c.8695-45G= (n.8695-45G=) | |
7 | g.21749633G>T | CA2681987247 | DNAH11 | c.8674-45G>T (n.8674-45G>T) c.8695-45G>T (n.8695-45G>T) | gnomAD v4 |
7 | g.21749634C>A | CA4181681 | DNAH11 | c.8674-44C>A (n.8674-44C>A) c.8695-44C>A (n.8695-44C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749634C= | CA1693663040 | DNAH11 | c.8674-44C= (n.8674-44C=) c.8695-44C= (n.8695-44C=) | |
7 | g.21749634C>T | CA2681987248 | DNAH11 | c.8674-44C>T (n.8674-44C>T) c.8695-44C>T (n.8695-44C>T) | gnomAD v4 |
7 | g.21749635A>C | CA2578843358 | DNAH11 | c.8674-43A>C (n.8674-43A>C) c.8695-43A>C (n.8695-43A>C) | |
7 | g.21749635A>G | CA2578843359 | DNAH11 | c.8674-43A>G (n.8674-43A>G) c.8695-43A>G (n.8695-43A>G) | gnomAD v4 |
7 | g.21749637C>A | CA2578843360 | DNAH11 | c.8674-41C>A (n.8674-41C>A) c.8695-41C>A (n.8695-41C>A) | |
7 | g.21749637C= | CA1693663041 | DNAH11 | c.8674-41C= (n.8674-41C=) c.8695-41C= (n.8695-41C=) | |
7 | g.21749637C>T | CA4181682 | DNAH11 | c.8674-41C>T (n.8674-41C>T) c.8695-41C>T (n.8695-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749638A= | CA1693663043 | DNAH11 | c.8674-40A= (n.8674-40A=) c.8695-40A= (n.8695-40A=) | |
7 | g.21749638A>G | CA1693663044 | DNAH11 | c.8674-40A>G (n.8674-40A>G) c.8695-40A>G (n.8695-40A>G) | dbSNP |
7 | g.21749639G>A | CA836670870 | DNAH11 | c.8674-39G>A (n.8674-39G>A) c.8695-39G>A (n.8695-39G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749639G= | CA1693663046 | DNAH11 | c.8674-39G= (n.8674-39G=) c.8695-39G= (n.8695-39G=) | |
7 | g.21749640C>A | CA572926317 | DNAH11 | c.8674-38C>A (n.8674-38C>A) c.8695-38C>A (n.8695-38C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21749640C= | CA1693663049 | DNAH11 | c.8674-38C= (n.8674-38C=) c.8695-38C= (n.8695-38C=) | |
7 | g.21749640C>G | CA4181683 | DNAH11 | c.8674-38C>G (n.8674-38C>G) c.8695-38C>G (n.8695-38C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749643T>G | CA2681987249 | DNAH11 | c.8674-35T>G (n.8674-35T>G) c.8695-35T>G (n.8695-35T>G) | gnomAD v4 |
7 | g.21749645T= | CA1693663053 | DNAH11 | c.8674-33T= (n.8674-33T=) c.8695-33T= (n.8695-33T=) | |
7 | g.21749646A>G | CA2774678394 | DNAH11 | c.8674-32A>G (n.8674-32A>G) c.8695-32A>G (n.8695-32A>G) | |
7 | g.21749647dup | CA4181684 | DNAH11 | c.8674-31dup (n.8674-31dup) c.8695-31dup (n.8695-31dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749648C>T | CA2681987250 | DNAH11 | c.8674-30C>T (n.8674-30C>T) c.8695-30C>T (n.8695-30C>T) | gnomAD v4 |
7 | g.21749648_21749649delinsCA | CA1693663055 | DNAH11 | c.8674-30_8674-29delinsCA (n.8674-30_8674-29delinsCA) c.8695-30_8695-29delinsCA (n.8695-30_8695-29delinsCA) | |
7 | g.21749649A= | CA1693663057 | DNAH11 | c.8674-29A= (n.8674-29A=) c.8695-29A= (n.8695-29A=) | |
7 | g.21749649A>G | CA4181686 | DNAH11 | c.8674-29A>G (n.8674-29A>G) c.8695-29A>G (n.8695-29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21749652del | CA4181685 | DNAH11 | c.8674-26del (n.8674-26del) c.8695-26del (n.8695-26del) | dbSNP ExAC gnomAD v2 |
7 | g.21749650A>G | CA2681987251 | DNAH11 | c.8674-28A>G (n.8674-28A>G) c.8695-28A>G (n.8695-28A>G) | gnomAD v4 |
7 | g.21749650A>T | CA2714087712 | DNAH11 | c.8674-28A>T (n.8674-28A>T) c.8695-28A>T (n.8695-28A>T) | dbSNP |
7 | g.21749652A>T | CA2681987252 | DNAH11 | c.8674-26A>T (n.8674-26A>T) c.8695-26A>T (n.8695-26A>T) | dbSNP gnomAD v4 |
7 | g.21749653C= | CA1693663059 | DNAH11 | c.8674-25C= (n.8674-25C=) c.8695-25C= (n.8695-25C=) | |
7 | g.21749653C>T | CA4181687 | DNAH11 | c.8674-25C>T (n.8674-25C>T) c.8695-25C>T (n.8695-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21749654A= | CA1693663061 | DNAH11 | c.8674-24A= (n.8674-24A=) c.8695-24A= (n.8695-24A=) | |
7 | g.21749654A>G | CA4181688 | DNAH11 | c.8674-24A>G (n.8674-24A>G) c.8695-24A>G (n.8695-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749655T>A | CA1693663065 | DNAH11 | c.8674-23T>A (n.8674-23T>A) c.8695-23T>A (n.8695-23T>A) | dbSNP |
7 | g.21749655T>C | CA1693663064 | DNAH11 | c.8674-23T>C (n.8674-23T>C) c.8695-23T>C (n.8695-23T>C) | dbSNP gnomAD v4 |
7 | g.21749655T= | CA1693663063 | DNAH11 | c.8674-23T= (n.8674-23T=) c.8695-23T= (n.8695-23T=) | |
7 | g.21749658G>A | CA4181690 | DNAH11 | c.8674-20G>A (n.8674-20G>A) c.8695-20G>A (n.8695-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749658G>C | CA4181689 | DNAH11 | c.8674-20G>C (n.8674-20G>C) c.8695-20G>C (n.8695-20G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749658G= | CA1693663067 | DNAH11 | c.8674-20G= (n.8674-20G=) c.8695-20G= (n.8695-20G=) | |
7 | g.21749659T= | CA1693663069 | DNAH11 | c.8674-19T= (n.8674-19T=) c.8695-19T= (n.8695-19T=) | |
7 | g.21749659_21749660insA | CA572926324 | DNAH11 | c.8674-19_8674-18insA (n.8674-19_8674-18insA) c.8695-19_8695-18insA (n.8695-19_8695-18insA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749660G>A | CA572926325 | DNAH11 | c.8674-18G>A (n.8674-18G>A) c.8695-18G>A (n.8695-18G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21749660G>C | CA2681987253 | DNAH11 | c.8674-18G>C (n.8674-18G>C) c.8695-18G>C (n.8695-18G>C) | gnomAD v4 |
7 | g.21749660G= | CA1693663071 | DNAH11 | c.8674-18G= (n.8674-18G=) c.8695-18G= (n.8695-18G=) | |
7 | g.21749660G>T | CA155122102 | DNAH11 | c.8674-18G>T (n.8674-18G>T) c.8695-18G>T (n.8695-18G>T) | dbSNP |
7 | g.21749661A>G | CA2697557157 | DNAH11 | c.8674-17A>G (n.8674-17A>G) c.8695-17A>G (n.8695-17A>G) | ClinVar |
7 | g.21749661A>T | CA2681987254 | DNAH11 | c.8674-17A>T (n.8674-17A>T) c.8695-17A>T (n.8695-17A>T) | gnomAD v4 |
7 | g.21749662T>C | CA155122108 | DNAH11 | c.8674-16T>C (n.8674-16T>C) c.8695-16T>C (n.8695-16T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749662T= | CA1693663073 | DNAH11 | c.8674-16T= (n.8674-16T=) c.8695-16T= (n.8695-16T=) | |
7 | g.21749665C>A | CA2739266276 | DNAH11 | c.8674-13C>A (n.8674-13C>A) c.8695-13C>A (n.8695-13C>A) | ClinVar |
7 | g.21749665C= | CA1693663075 | DNAH11 | c.8674-13C= (n.8674-13C=) c.8695-13C= (n.8695-13C=) | |
7 | g.21749665C>T | CA4181691 | DNAH11 | c.8674-13C>T (n.8674-13C>T) c.8695-13C>T (n.8695-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749666C= | CA1693663077 | DNAH11 | c.8674-12C= (n.8674-12C=) c.8695-12C= (n.8695-12C=) | |
7 | g.21749666C>G | CA2739266277 | DNAH11 | c.8674-12C>G (n.8674-12C>G) c.8695-12C>G (n.8695-12C>G) | ClinVar |
7 | g.21749666C>T | CA4181692 | DNAH11 | c.8674-12C>T (n.8674-12C>T) c.8695-12C>T (n.8695-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749666_21749668delinsCTT | CA1693663079 | DNAH11 | c.8674-12_8674-10delinsCTT (n.8674-12_8674-10delinsCTT) c.8695-12_8695-10delinsCTT (n.8695-12_8695-10delinsCTT) | |
7 | g.21749669del | CA1099217501 | DNAH11 | c.8674-9del (n.8674-9del) c.8695-9del (n.8695-9del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749668_21749669del | CA836670886 | DNAH11 | c.8674-10_8674-9del (n.8674-10_8674-9del) c.8695-10_8695-9del (n.8695-10_8695-9del) | dbSNP |
7 | g.21749668T>C | CA2697557158 | DNAH11 | c.8674-10T>C (n.8674-10T>C) c.8695-10T>C (n.8695-10T>C) | ClinVar |
7 | g.21749668T>G | CA1693663083 | DNAH11 | c.8674-10T>G (n.8674-10T>G) c.8695-10T>G (n.8695-10T>G) | dbSNP |
7 | g.21749668T= | CA1693663082 | DNAH11 | c.8674-10T= (n.8674-10T=) c.8695-10T= (n.8695-10T=) | |
7 | g.21749669T>A | CA1099217503 | DNAH11 | c.8674-9T>A (n.8674-9T>A) c.8695-9T>A (n.8695-9T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749669T= | CA1693663085 | DNAH11 | c.8674-9T= (n.8674-9T=) c.8695-9T= (n.8695-9T=) | |
7 | g.21749670C>A | CA155122114 | DNAH11 | c.8674-8C>A (n.8674-8C>A) c.8695-8C>A (n.8695-8C>A) | ClinVar dbSNP |
7 | g.21749670C= | CA1693663088 | DNAH11 | c.8674-8C= (n.8674-8C=) c.8695-8C= (n.8695-8C=) | |
7 | g.21749670C>T | CA1099217508 | DNAH11 | c.8674-8C>T (n.8674-8C>T) c.8695-8C>T (n.8695-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749671C>A | CA2681987255 | DNAH11 | c.8674-7C>A (n.8674-7C>A) c.8695-7C>A (n.8695-7C>A) | gnomAD v4 |
7 | g.21749671_21749672delinsCT | CA1693663091 | DNAH11 | c.8674-7_8674-6delinsCT (n.8674-7_8674-6delinsCT) c.8695-7_8695-6delinsCT (n.8695-7_8695-6delinsCT) | |
7 | g.21749672T>C | CA155122115 | DNAH11 | c.8674-6T>C (n.8674-6T>C) c.8695-6T>C (n.8695-6T>C) | ClinVar dbSNP |
7 | g.21749672T= | CA1693663093 | DNAH11 | c.8674-6T= (n.8674-6T=) c.8695-6T= (n.8695-6T=) | |
7 | g.21749673del | CA1099217513 | DNAH11 | c.8674-5del (n.8674-5del) c.8695-5del (n.8695-5del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749674A>G | CA2510302959 | DNAH11 | c.8674-4A>G (n.8674-4A>G) c.8695-4A>G (n.8695-4A>G) | |
7 | g.21749675C= | CA1693663095 | DNAH11 | c.8674-3C= (n.8674-3C=) c.8695-3C= (n.8695-3C=) | |
7 | g.21749675C>T | CA572926327 | DNAH11 | c.8674-3C>T (n.8674-3C>T) c.8695-3C>T (n.8695-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21749676A>C | CA366955636 | DNAH11 | c.8674-2A>C (n.8674-2A>C) c.8695-2A>C (n.8695-2A>C) | gnomAD v4 |
7 | g.21749676A>G | CA366955637 | DNAH11 | c.8674-2A>G (n.8674-2A>G) c.8695-2A>G (n.8695-2A>G) | |
7 | g.21749676A>T | CA366955639 | DNAH11 | c.8674-2A>T (n.8674-2A>T) c.8695-2A>T (n.8695-2A>T) | gnomAD v4 |
7 | g.21749677G>A | CA366955641 | DNAH11 | c.8674-1G>A (n.8674-1G>A) c.8695-1G>A (n.8695-1G>A) | ClinVar |
7 | g.21749677G>C | CA366955646 | DNAH11 | c.8674-1G>C (n.8674-1G>C) c.8695-1G>C (n.8695-1G>C) | |
7 | g.21749677G>T | CA366955644 | DNAH11 | c.8674-1G>T (n.8674-1G>T) c.8695-1G>T (n.8695-1G>T) | gnomAD v4 |
7 | g.21749678G>A | CA366955647 | DNAH11 | c.8674G>A (p.Val2892Ile) c.8695G>A (p.Val2899Ile) | gnomAD v4 |
7 | g.21749678G>C | CA366955650 | DNAH11 | c.8674G>C (p.Val2892Leu) c.8695G>C (p.Val2899Leu) | |
7 | g.21749678G>T | CA366955648 | DNAH11 | c.8674G>T (p.Val2892Leu) c.8695G>T (p.Val2899Leu) | |
7 | g.21749679T>A | CA366955652 | DNAH11 | c.8675T>A (p.Val2892Glu) c.8696T>A (p.Val2899Glu) | |
7 | g.21749679T>C | CA366955656 | DNAH11 | c.8675T>C (p.Val2892Ala) c.8696T>C (p.Val2899Ala) | gnomAD v4 |
7 | g.21749679T>G | CA366955654 | DNAH11 | c.8675T>G (p.Val2892Gly) c.8696T>G (p.Val2899Gly) | |
7 | g.21749680A>C | CA453968650 | DNAH11 | c.8676A>C (p.Val2892=) c.8697A>C (p.Val2899=) | |
7 | g.21749680A>G | CA453968651 | DNAH11 | c.8676A>G (p.Val2892=) c.8697A>G (p.Val2899=) | gnomAD v4 |
7 | g.21749680A>T | CA453968652 | DNAH11 | c.8676A>T (p.Val2892=) c.8697A>T (p.Val2899=) | |
7 | g.21749681G>A | CA366955658 | DNAH11 | c.8677G>A (p.Asp2893Asn) c.8698G>A (p.Asp2900Asn) | gnomAD v4 |
7 | g.21749681G>C | CA366955659 | DNAH11 | c.8677G>C (p.Asp2893His) c.8698G>C (p.Asp2900His) | |
7 | g.21749681G>T | CA366955660 | DNAH11 | c.8677G>T (p.Asp2893Tyr) c.8698G>T (p.Asp2900Tyr) | |
7 | g.21749682A= | CA1693663101 | DNAH11 | c.8678A= (p.Asp2893=) c.8699A= (p.Asp2900=) | |
7 | g.21749682A>C | CA366955661 | DNAH11 | c.8678A>C (p.Asp2893Ala) c.8699A>C (p.Asp2900Ala) | |
7 | g.21749682A>G | CA366955663 | DNAH11 | c.8678A>G (p.Asp2893Gly) c.8699A>G (p.Asp2900Gly) | |
7 | g.21749682A>T | CA4181693 | DNAH11 | c.8678A>T (p.Asp2893Val) c.8699A>T (p.Asp2900Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21749683T>A | CA366955667 | DNAH11 | c.8679T>A (p.Asp2893Glu) c.8700T>A (p.Asp2900Glu) | |
7 | g.21749683T>C | CA453968653 | DNAH11 | c.8679T>C (p.Asp2893=) c.8700T>C (p.Asp2900=) | gnomAD v4 |
7 | g.21749683T>G | CA366955666 | DNAH11 | c.8679T>G (p.Asp2893Glu) c.8700T>G (p.Asp2900Glu) | |
7 | g.21749684C>A | CA366955671 | DNAH11 | c.8680C>A (p.Leu2894Ile) c.8701C>A (p.Leu2901Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21749684C= | CA1693663104 | DNAH11 | c.8680C= (p.Leu2894=) c.8701C= (p.Leu2901=) | |
7 | g.21749684C>G | CA4181694 | DNAH11 | c.8680C>G (p.Leu2894Val) c.8701C>G (p.Leu2901Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749684C>T | CA155122121 | DNAH11 | c.8680C>T (p.Leu2894Phe) c.8701C>T (p.Leu2901Phe) | dbSNP |
7 | g.21749685T>A | CA366955675 | DNAH11 | c.8681T>A (p.Leu2894His) c.8702T>A (p.Leu2901His) | |
7 | g.21749685T>C | CA366955677 | DNAH11 | c.8681T>C (p.Leu2894Pro) c.8702T>C (p.Leu2901Pro) | |
7 | g.21749685T>G | CA366955679 | DNAH11 | c.8681T>G (p.Leu2894Arg) c.8702T>G (p.Leu2901Arg) | |
7 | g.21749686T>A | CA453968654 | DNAH11 | c.8682T>A (p.Leu2894=) c.8703T>A (p.Leu2901=) | |
7 | g.21749686T>C | CA453968656 | DNAH11 | c.8682T>C (p.Leu2894=) c.8703T>C (p.Leu2901=) | |
7 | g.21749686T>G | CA453968655 | DNAH11 | c.8682T>G (p.Leu2894=) c.8703T>G (p.Leu2901=) | |
7 | g.21749687G>A | CA366955681 | DNAH11 | c.8683G>A (p.Ala2895Thr) c.8704G>A (p.Ala2902Thr) | |
7 | g.21749687G>C | CA366955685 | DNAH11 | c.8683G>C (p.Ala2895Pro) c.8704G>C (p.Ala2902Pro) | |
7 | g.21749687G>T | CA366955683 | DNAH11 | c.8683G>T (p.Ala2895Ser) c.8704G>T (p.Ala2902Ser) | |
7 | g.21749688C>A | CA366955688 | DNAH11 | c.8684C>A (p.Ala2895Asp) c.8705C>A (p.Ala2902Asp) | |
7 | g.21749688C= | CA1693663110 | DNAH11 | c.8684C= (p.Ala2895=) c.8705C= (p.Ala2902=) | |
7 | g.21749688C>G | CA366955689 | DNAH11 | c.8684C>G (p.Ala2895Gly) c.8705C>G (p.Ala2902Gly) | |
7 | g.21749688C>T | CA4181695 | DNAH11 | c.8684C>T (p.Ala2895Val) c.8705C>T (p.Ala2902Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749689C>A | CA453968657 | DNAH11 | c.8685C>A (p.Ala2895=) c.8706C>A (p.Ala2902=) | |
7 | g.21749689C>G | CA453968658 | DNAH11 | c.8685C>G (p.Ala2895=) c.8706C>G (p.Ala2902=) | |
7 | g.21749689C>T | CA453968659 | DNAH11 | c.8685C>T (p.Ala2895=) c.8706C>T (p.Ala2902=) | gnomAD v4 |
7 | g.21749690A= | CA1693663114 | DNAH11 | c.8686A= (p.Asn2896=) c.8707A= (p.Asn2903=) | |
7 | g.21749690A>C | CA366955692 | DNAH11 | c.8686A>C (p.Asn2896His) c.8707A>C (p.Asn2903His) | |
7 | g.21749690A>G | CA4181696 | DNAH11 | c.8686A>G (p.Asn2896Asp) c.8707A>G (p.Asn2903Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21749690A>T | CA366955696 | DNAH11 | c.8686A>T (p.Asn2896Tyr) c.8707A>T (p.Asn2903Tyr) | gnomAD v4 |
7 | g.21749691A= | CA1693663117 | DNAH11 | c.8687A= (p.Asn2896=) c.8708A= (p.Asn2903=) | |
7 | g.21749691A>C | CA366955698 | DNAH11 | c.8687A>C (p.Asn2896Thr) c.8708A>C (p.Asn2903Thr) | |
7 | g.21749691A>G | CA155122123 | DNAH11 | c.8687A>G (p.Asn2896Ser) c.8708A>G (p.Asn2903Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21749691A>T | CA366955701 | DNAH11 | c.8687A>T (p.Asn2896Ile) c.8708A>T (p.Asn2903Ile) | |
7 | g.21749692T>A | CA366955703 | DNAH11 | c.8688T>A (p.Asn2896Lys) c.8709T>A (p.Asn2903Lys) | |
7 | g.21749692T>C | CA453968660 | DNAH11 | c.8688T>C (p.Asn2896=) c.8709T>C (p.Asn2903=) | dbSNP |
7 | g.21749692T>G | CA366955705 | DNAH11 | c.8688T>G (p.Asn2896Lys) c.8709T>G (p.Asn2903Lys) | dbSNP |
7 | g.21749692T= | CA1693663120 | DNAH11 | c.8688T= (p.Asn2896=) c.8709T= (p.Asn2903=) | |
7 | g.21749693T>A | CA366955708 | DNAH11 | c.8689T>A (p.Leu2897Met) c.8710T>A (p.Leu2904Met) | |
7 | g.21749693T>C | CA453968661 | DNAH11 | c.8689T>C (p.Leu2897=) c.8710T>C (p.Leu2904=) | ClinVar dbSNP gnomAD v4 |
7 | g.21749693T>G | CA366955709 | DNAH11 | c.8689T>G (p.Leu2897Val) c.8710T>G (p.Leu2904Val) | |
7 | g.21749693T= | CA1693663126 | DNAH11 | c.8689T= (p.Leu2897=) c.8710T= (p.Leu2904=) | |
7 | g.21749694T>A | CA366955711 | DNAH11 | c.8690T>A (p.Leu2897Ter) c.8711T>A (p.Leu2904Ter) | |
7 | g.21749694T>C | CA4181697 | DNAH11 | c.8690T>C (p.Leu2897Ser) c.8711T>C (p.Leu2904Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21749694T>G | CA366955715 | DNAH11 | c.8690T>G (p.Leu2897Trp) c.8711T>G (p.Leu2904Trp) | |
7 | g.21749694T= | CA1693663130 | DNAH11 | c.8690T= (p.Leu2897=) c.8711T= (p.Leu2904=) | |
7 | g.21749695G>A | CA453968662 | DNAH11 | c.8691G>A (p.Leu2897=) c.8712G>A (p.Leu2904=) | |
7 | g.21749695G>C | CA366955717 | DNAH11 | c.8691G>C (p.Leu2897Phe) c.8712G>C (p.Leu2904Phe) | |
7 | g.21749695G>T | CA366955719 | DNAH11 | c.8691G>T (p.Leu2897Phe) c.8712G>T (p.Leu2904Phe) | gnomAD v4 |
7 | g.21749696T>A | CA366955720 | DNAH11 | c.8692T>A (p.Tyr2898Asn) c.8713T>A (p.Tyr2905Asn) | |
7 | g.21749696T>C | CA366955722 | DNAH11 | c.8692T>C (p.Tyr2898His) c.8713T>C (p.Tyr2905His) | gnomAD v4 |
7 | g.21749696T>G | CA366955723 | DNAH11 | c.8692T>G (p.Tyr2898Asp) c.8713T>G (p.Tyr2905Asp) | |
7 | g.21749697A= | CA1693663132 | DNAH11 | c.8693A= (p.Tyr2898=) c.8714A= (p.Tyr2905=) | |
7 | g.21749697A>C | CA366955726 | DNAH11 | c.8693A>C (p.Tyr2898Ser) c.8714A>C (p.Tyr2905Ser) | dbSNP gnomAD v4 |
7 | g.21749697A>G | CA155122126 | DNAH11 | c.8693A>G (p.Tyr2898Cys) c.8714A>G (p.Tyr2905Cys) | dbSNP gnomAD v4 |
7 | g.21749697A>T | CA366955729 | DNAH11 | c.8693A>T (p.Tyr2898Phe) c.8714A>T (p.Tyr2905Phe) | |
7 | g.21749698C>A | CA366955730 | DNAH11 | c.8694C>A (p.Tyr2898Ter) c.8715C>A (p.Tyr2905Ter) | gnomAD v4 |
7 | g.21749698C= | CA1693663135 | DNAH11 | c.8694C= (p.Tyr2898=) c.8715C= (p.Tyr2905=) | |
7 | g.21749698C>G | CA366955731 | DNAH11 | c.8694C>G (p.Tyr2898Ter) c.8715C>G (p.Tyr2905Ter) | |
7 | g.21749698C>T | CA453968663 | DNAH11 | c.8694C>T (p.Tyr2898=) c.8715C>T (p.Tyr2905=) | dbSNP |
7 | g.21749699A>C | CA366955734 | DNAH11 | c.8695A>C (p.Ile2899Leu) c.8716A>C (p.Ile2906Leu) | |
7 | g.21749699A>G | CA366955732 | DNAH11 | c.8695A>G (p.Ile2899Val) c.8716A>G (p.Ile2906Val) | gnomAD v4 |
7 | g.21749699A>T | CA366955733 | DNAH11 | c.8695A>T (p.Ile2899Phe) c.8716A>T (p.Ile2906Phe) | |
7 | g.21749700T>A | CA366955735 | DNAH11 | c.8696T>A (p.Ile2899Asn) c.8717T>A (p.Ile2906Asn) | |
7 | g.21749700T>C | CA366955736 | DNAH11 | c.8696T>C (p.Ile2899Thr) c.8717T>C (p.Ile2906Thr) | |
7 | g.21749700T>G | CA366955737 | DNAH11 | c.8696T>G (p.Ile2899Ser) c.8717T>G (p.Ile2906Ser) | |
7 | g.21749701C>A | CA453968664 | DNAH11 | c.8697C>A (p.Ile2899=) c.8718C>A (p.Ile2906=) | |
7 | g.21749701C>G | CA366955738 | DNAH11 | c.8697C>G (p.Ile2899Met) c.8718C>G (p.Ile2906Met) | |
7 | g.21749701C>T | CA453968665 | DNAH11 | c.8697C>T (p.Ile2899=) c.8718C>T (p.Ile2906=) | |
7 | g.21749702C>A | CA453968666 | DNAH11 | c.8698C>A (p.Arg2900=) c.8719C>A (p.Arg2907=) | |
7 | g.21749702C= | CA1693663138 | DNAH11 | c.8698C= (p.Arg2900=) c.8719C= (p.Arg2907=) | |
7 | g.21749702C>G | CA366955739 | DNAH11 | c.8698C>G (p.Arg2900Gly) c.8719C>G (p.Arg2907Gly) | gnomAD v4 |
7 | g.21749702C>T | CA260569 | DNAH11 | c.8698C>T (p.Arg2900Ter) c.8719C>T (p.Arg2907Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749703G>A | CA4181698 | DNAH11 | c.8699G>A (p.Arg2900Gln) c.8720G>A (p.Arg2907Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21749703G>C | CA366955740 | DNAH11 | c.8699G>C (p.Arg2900Pro) c.8720G>C (p.Arg2907Pro) | |
7 | g.21749703G= | CA1693663144 | DNAH11 | c.8699G= (p.Arg2900=) c.8720G= (p.Arg2907=) | |
7 | g.21749703G>T | CA366955741 | DNAH11 | c.8699G>T (p.Arg2900Leu) c.8720G>T (p.Arg2907Leu) | gnomAD v4 |
7 | g.21749704A>C | CA453968667 | DNAH11 | c.8700A>C (p.Arg2900=) c.8721A>C (p.Arg2907=) | |
7 | g.21749704A>G | CA453968668 | DNAH11 | c.8700A>G (p.Arg2900=) c.8721A>G (p.Arg2907=) | |
7 | g.21749704A>T | CA453968669 | DNAH11 | c.8700A>T (p.Arg2900=) c.8721A>T (p.Arg2907=) | |
7 | g.21749705A= | CA1693663149 | DNAH11 | c.8701A= (p.Thr2901=) c.8722A= (p.Thr2908=) | |
7 | g.21749705A>C | CA366955742 | DNAH11 | c.8701A>C (p.Thr2901Pro) c.8722A>C (p.Thr2908Pro) | |
7 | g.21749705A>G | CA4181699 | DNAH11 | c.8701A>G (p.Thr2901Ala) c.8722A>G (p.Thr2908Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21749705A>T | CA366955743 | DNAH11 | c.8701A>T (p.Thr2901Ser) c.8722A>T (p.Thr2908Ser) | |
7 | g.21749706C>A | CA366955744 | DNAH11 | c.8702C>A (p.Thr2901Asn) c.8723C>A (p.Thr2908Asn) | |
7 | g.21749706C>G | CA366955746 | DNAH11 | c.8702C>G (p.Thr2901Ser) c.8723C>G (p.Thr2908Ser) | |
7 | g.21749706C>T | CA366955745 | DNAH11 | c.8702C>T (p.Thr2901Ile) c.8723C>T (p.Thr2908Ile) | gnomAD v4 |
7 | g.21749707T>A | CA453968672 | DNAH11 | c.8703T>A (p.Thr2901=) c.8724T>A (p.Thr2908=) | |
7 | g.21749707T>C | CA453968670 | DNAH11 | c.8703T>C (p.Thr2901=) c.8724T>C (p.Thr2908=) | gnomAD v4 |
7 | g.21749707T>G | CA453968671 | DNAH11 | c.8703T>G (p.Thr2901=) c.8724T>G (p.Thr2908=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21749707T= | CA1693663152 | DNAH11 | c.8703T= (p.Thr2901=) c.8724T= (p.Thr2908=) | |
7 | g.21749708G>A | CA366955747 | DNAH11 | c.8704G>A (p.Gly2902Arg) c.8725G>A (p.Gly2909Arg) | |
7 | g.21749708G>C | CA366955748 | DNAH11 | c.8704G>C (p.Gly2902Arg) c.8725G>C (p.Gly2909Arg) | |
7 | g.21749708G>T | CA366955749 | DNAH11 | c.8704G>T (p.Gly2902Ter) c.8725G>T (p.Gly2909Ter) | |
7 | g.21749709G>A | CA366955750 | DNAH11 | c.8705G>A (p.Gly2902Glu) c.8726G>A (p.Gly2909Glu) | |
7 | g.21749709G>C | CA366955751 | DNAH11 | c.8705G>C (p.Gly2902Ala) c.8726G>C (p.Gly2909Ala) | ClinVar |
7 | g.21749709G>T | CA366955752 | DNAH11 | c.8705G>T (p.Gly2902Val) c.8726G>T (p.Gly2909Val) | |
7 | g.21749710A= | CA1693663155 | DNAH11 | c.8706A= (p.Gly2902=) c.8727A= (p.Gly2909=) | |
7 | g.21749710A>C | CA453968675 | DNAH11 | c.8706A>C (p.Gly2902=) c.8727A>C (p.Gly2909=) | |
7 | g.21749710A>G | CA453968674 | DNAH11 | c.8706A>G (p.Gly2902=) c.8727A>G (p.Gly2909=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749710A>T | CA453968673 | DNAH11 | c.8706A>T (p.Gly2902=) c.8727A>T (p.Gly2909=) | |
7 | g.21749711G>A | CA366955755 | DNAH11 | c.8707G>A (p.Ala2903Thr) c.8728G>A (p.Ala2910Thr) | gnomAD v4 |
7 | g.21749711G>C | CA366955754 | DNAH11 | c.8707G>C (p.Ala2903Pro) c.8728G>C (p.Ala2910Pro) | |
7 | g.21749711G>T | CA366955753 | DNAH11 | c.8707G>T (p.Ala2903Ser) c.8728G>T (p.Ala2910Ser) | |
7 | g.21749712C>A | CA366955756 | DNAH11 | c.8708C>A (p.Ala2903Asp) c.8729C>A (p.Ala2910Asp) | |
7 | g.21749712C>G | CA366955757 | DNAH11 | c.8708C>G (p.Ala2903Gly) c.8729C>G (p.Ala2910Gly) | |
7 | g.21749712C>T | CA366955758 | DNAH11 | c.8708C>T (p.Ala2903Val) c.8729C>T (p.Ala2910Val) | gnomAD v4 |
7 | g.21749713del | CA2573142023 | DNAH11 | c.8709del (p.Lys2904ArgfsTer9) c.8730del (p.Lys2911ArgfsTer9) | ClinVar dbSNP |
7 | g.21749713C>A | CA453968676 | DNAH11 | c.8709C>A (p.Ala2903=) c.8730C>A (p.Ala2910=) | |
7 | g.21749713C>G | CA453968678 | DNAH11 | c.8709C>G (p.Ala2903=) c.8730C>G (p.Ala2910=) | |
7 | g.21749713C>T | CA453968677 | DNAH11 | c.8709C>T (p.Ala2903=) c.8730C>T (p.Ala2910=) | |
7 | g.21749714A>C | CA366955759 | DNAH11 | c.8710A>C (p.Lys2904Gln) c.8731A>C (p.Lys2911Gln) | |
7 | g.21749714A>G | CA366955760 | DNAH11 | c.8710A>G (p.Lys2904Glu) c.8731A>G (p.Lys2911Glu) | |
7 | g.21749714A>T | CA366955761 | DNAH11 | c.8710A>T (p.Lys2904Ter) c.8731A>T (p.Lys2911Ter) | |
7 | g.21749715A= | CA1693663159 | DNAH11 | c.8711A= (p.Lys2904=) c.8732A= (p.Lys2911=) | |
7 | g.21749715A>C | CA366955762 | DNAH11 | c.8711A>C (p.Lys2904Thr) c.8732A>C (p.Lys2911Thr) | gnomAD v4 |
7 | g.21749715A>G | CA366955764 | DNAH11 | c.8711A>G (p.Lys2904Arg) c.8732A>G (p.Lys2911Arg) | dbSNP |
7 | g.21749715A>T | CA366955763 | DNAH11 | c.8711A>T (p.Lys2904Met) c.8732A>T (p.Lys2911Met) | |
7 | g.21749716G>A | CA453968679 | DNAH11 | c.8712G>A (p.Lys2904=) c.8733G>A (p.Lys2911=) | |
7 | g.21749716G>C | CA366955765 | DNAH11 | c.8712G>C (p.Lys2904Asn) c.8733G>C (p.Lys2911Asn) | COSMIC |
7 | g.21749716G>T | CA366955766 | DNAH11 | c.8712G>T (p.Lys2904Asn) c.8733G>T (p.Lys2911Asn) | |
7 | g.21749717A>C | CA366955767 | DNAH11 | c.8713A>C (p.Asn2905His) c.8734A>C (p.Asn2912His) | |
7 | g.21749717A>G | CA366955768 | DNAH11 | c.8713A>G (p.Asn2905Asp) c.8734A>G (p.Asn2912Asp) | |
7 | g.21749717A>T | CA366955769 | DNAH11 | c.8713A>T (p.Asn2905Tyr) c.8734A>T (p.Asn2912Tyr) | |
7 | g.21749718A= | CA1693663162 | DNAH11 | c.8714A= (p.Asn2905=) c.8735A= (p.Asn2912=) | |
7 | g.21749718A>C | CA366955770 | DNAH11 | c.8714A>C (p.Asn2905Thr) c.8735A>C (p.Asn2912Thr) | |
7 | g.21749718A>G | CA366955771 | DNAH11 | c.8714A>G (p.Asn2905Ser) c.8735A>G (p.Asn2912Ser) | gnomAD v4 |
7 | g.21749718A>T | CA366955772 | DNAH11 | c.8714A>T (p.Asn2905Ile) c.8735A>T (p.Asn2912Ile) | ClinVar dbSNP |
7 | g.21749719C>A | CA366955773 | DNAH11 | c.8715C>A (p.Asn2905Lys) c.8736C>A (p.Asn2912Lys) | |
7 | g.21749719C= | CA1693663165 | DNAH11 | c.8715C= (p.Asn2905=) c.8736C= (p.Asn2912=) | |
7 | g.21749719C>G | CA366955774 | DNAH11 | c.8715C>G (p.Asn2905Lys) c.8736C>G (p.Asn2912Lys) | gnomAD v4 |
7 | g.21749719C>T | CA155122140 | DNAH11 | c.8715C>T (p.Asn2905=) c.8736C>T (p.Asn2912=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749720A= | CA1693663169 | DNAH11 | c.8716A= (p.Met2906=) c.8737A= (p.Met2913=) | |
7 | g.21749720A>C | CA366955775 | DNAH11 | c.8716A>C (p.Met2906Leu) c.8737A>C (p.Met2913Leu) | |
7 | g.21749720A>G | CA366955777 | DNAH11 | c.8716A>G (p.Met2906Val) c.8737A>G (p.Met2913Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749720A>T | CA366955776 | DNAH11 | c.8716A>T (p.Met2906Leu) c.8737A>T (p.Met2913Leu) | |
7 | g.21749721T>A | CA366955778 | DNAH11 | c.8717T>A (p.Met2906Lys) c.8738T>A (p.Met2913Lys) | |
7 | g.21749721T>C | CA366955779 | DNAH11 | c.8717T>C (p.Met2906Thr) c.8738T>C (p.Met2913Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21749721T>G | CA366955780 | DNAH11 | c.8717T>G (p.Met2906Arg) c.8738T>G (p.Met2913Arg) | |
7 | g.21749721T= | CA1693663173 | DNAH11 | c.8717T= (p.Met2906=) c.8738T= (p.Met2913=) | |
7 | g.21749722G>A | CA366955781 | DNAH11 | c.8718G>A (p.Met2906Ile) c.8739G>A (p.Met2913Ile) | |
7 | g.21749722G>C | CA366955782 | DNAH11 | c.8718G>C (p.Met2906Ile) c.8739G>C (p.Met2913Ile) | |
7 | g.21749722G>T | CA366955783 | DNAH11 | c.8718G>T (p.Met2906Ile) c.8739G>T (p.Met2913Ile) | |
7 | g.21749723C>A | CA366955784 | DNAH11 | c.8719C>A (p.Pro2907Thr) c.8740C>A (p.Pro2914Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21749723C= | CA1693663175 | DNAH11 | c.8719C= (p.Pro2907=) c.8740C= (p.Pro2914=) | |
7 | g.21749723C>G | CA366955785 | DNAH11 | c.8719C>G (p.Pro2907Ala) c.8740C>G (p.Pro2914Ala) | |
7 | g.21749723C>T | CA366955786 | DNAH11 | c.8719C>T (p.Pro2907Ser) c.8740C>T (p.Pro2914Ser) | gnomAD v4 |
7 | g.21749724C>A | CA4181700 | DNAH11 | c.8720C>A (p.Pro2907His) c.8741C>A (p.Pro2914His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21749724C= | CA1693663178 | DNAH11 | c.8720C= (p.Pro2907=) c.8741C= (p.Pro2914=) | |
7 | g.21749724C>G | CA366955787 | DNAH11 | c.8720C>G (p.Pro2907Arg) c.8741C>G (p.Pro2914Arg) | |
7 | g.21749724C>T | CA366955788 | DNAH11 | c.8720C>T (p.Pro2907Leu) c.8741C>T (p.Pro2914Leu) | |
7 | g.21749725C>A | CA453968680 | DNAH11 | c.8721C>A (p.Pro2907=) c.8742C>A (p.Pro2914=) | |
7 | g.21749725C>G | CA453968681 | DNAH11 | c.8721C>G (p.Pro2907=) c.8742C>G (p.Pro2914=) | |
7 | g.21749725C>T | CA453968682 | DNAH11 | c.8721C>T (p.Pro2907=) c.8742C>T (p.Pro2914=) | gnomAD v4 COSMIC COSMIC |