Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21710503A>G | CA2681984656 | DNAH11 | c.6684-50A>G (n.6684-50A>G) c.6705-50A>G (n.6705-50A>G) | gnomAD v4 |
7 | g.21710504T>C | CA2681984657 | DNAH11 | c.6684-49T>C (n.6684-49T>C) c.6705-49T>C (n.6705-49T>C) | gnomAD v4 |
7 | g.21710506T>A | CA836652072 | DNAH11 | c.6684-47T>A (n.6684-47T>A) c.6705-47T>A (n.6705-47T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710506T>C | CA572920593 | DNAH11 | c.6684-47T>C (n.6684-47T>C) c.6705-47T>C (n.6705-47T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710506T= | CA1693636139 | DNAH11 | c.6684-47T= (n.6684-47T=) c.6705-47T= (n.6705-47T=) | |
7 | g.21710507C>A | CA2681984658 | DNAH11 | c.6684-46C>A (n.6684-46C>A) c.6705-46C>A (n.6705-46C>A) | gnomAD v4 |
7 | g.21710508A= | CA1693636143 | DNAH11 | c.6684-45A= (n.6684-45A=) c.6705-45A= (n.6705-45A=) | |
7 | g.21710508A>C | CA1099223272 | DNAH11 | c.6684-45A>C (n.6684-45A>C) c.6705-45A>C (n.6705-45A>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710508A>G | CA1099223280 | DNAH11 | c.6684-45A>G (n.6684-45A>G) c.6705-45A>G (n.6705-45A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710509A= | CA1693636146 | DNAH11 | c.6684-44A= (n.6684-44A=) c.6705-44A= (n.6705-44A=) | |
7 | g.21710509A>G | CA572920595 | DNAH11 | c.6684-44A>G (n.6684-44A>G) c.6705-44A>G (n.6705-44A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710511C>A | CA2681984659 | DNAH11 | c.6684-42C>A (n.6684-42C>A) c.6705-42C>A (n.6705-42C>A) | gnomAD v4 |
7 | g.21710511C>G | CA2578843097 | DNAH11 | c.6684-42C>G (n.6684-42C>G) c.6705-42C>G (n.6705-42C>G) | gnomAD v4 |
7 | g.21710513A= | CA1693636149 | DNAH11 | c.6684-40A= (n.6684-40A=) c.6705-40A= (n.6705-40A=) | |
7 | g.21710513A>G | CA572920596 | DNAH11 | c.6684-40A>G (n.6684-40A>G) c.6705-40A>G (n.6705-40A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710514_21710519delinsTCGTAG | CA1693636151 | DNAH11 | c.6684-39_6684-34delinsTCGTAG (n.6684-39_6684-34delinsTCGTAG) c.6705-39_6705-34delinsTCGTAG (n.6705-39_6705-34delinsTCGTAG) | |
7 | g.21710515C>A | CA2578843098 | DNAH11 | c.6684-38C>A (n.6684-38C>A) c.6705-38C>A (n.6705-38C>A) | gnomAD v4 |
7 | g.21710515C= | CA1693636158 | DNAH11 | c.6684-38C= (n.6684-38C=) c.6705-38C= (n.6705-38C=) | |
7 | g.21710515C>T | CA4180945 | DNAH11 | c.6684-38C>T (n.6684-38C>T) c.6705-38C>T (n.6705-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710515_21710519del | CA836652083 | DNAH11 | c.6684-38_6684-34del (n.6684-38_6684-34del) c.6705-38_6705-34del (n.6705-38_6705-34del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710516G>A | CA4180946 | DNAH11 | c.6684-37G>A (n.6684-37G>A) c.6705-37G>A (n.6705-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710516G>C | CA1693636185 | DNAH11 | c.6684-37G>C (n.6684-37G>C) c.6705-37G>C (n.6705-37G>C) | dbSNP gnomAD v4 |
7 | g.21710516G= | CA1693636162 | DNAH11 | c.6684-37G= (n.6684-37G=) c.6705-37G= (n.6705-37G=) | |
7 | g.21710519G>C | CA572920598 | DNAH11 | c.6684-34G>C (n.6684-34G>C) c.6705-34G>C (n.6705-34G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710519G= | CA1693636188 | DNAH11 | c.6684-34G= (n.6684-34G=) c.6705-34G= (n.6705-34G=) | |
7 | g.21710519G>T | CA2681984660 | DNAH11 | c.6684-34G>T (n.6684-34G>T) c.6705-34G>T (n.6705-34G>T) | gnomAD v4 |
7 | g.21710520A>C | CA2681984661 | DNAH11 | c.6684-33A>C (n.6684-33A>C) c.6705-33A>C (n.6705-33A>C) | gnomAD v4 |
7 | g.21710521A= | CA1693636189 | DNAH11 | c.6684-32A= (n.6684-32A=) c.6705-32A= (n.6705-32A=) | |
7 | g.21710521_21710522insT | CA1099223288 | DNAH11 | c.6684-32_6684-31insT (n.6684-32_6684-31insT) c.6705-32_6705-31insT (n.6705-32_6705-31insT) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710523T>C | CA2681984662 | DNAH11 | c.6684-30T>C (n.6684-30T>C) c.6705-30T>C (n.6705-30T>C) | gnomAD v4 |
7 | g.21710523T>G | CA4180947 | DNAH11 | c.6684-30T>G (n.6684-30T>G) c.6705-30T>G (n.6705-30T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710523T= | CA1693636191 | DNAH11 | c.6684-30T= (n.6684-30T=) c.6705-30T= (n.6705-30T=) | |
7 | g.21710524A>G | CA2681984664 | DNAH11 | c.6684-29A>G (n.6684-29A>G) c.6705-29A>G (n.6705-29A>G) | gnomAD v4 |
7 | g.21710526del | CA2681984663 | DNAH11 | c.6684-27del (n.6684-27del) c.6705-27del (n.6705-27del) | gnomAD v4 |
7 | g.21710526A>G | CA2774677730 | DNAH11 | c.6684-27A>G (n.6684-27A>G) c.6705-27A>G (n.6705-27A>G) | |
7 | g.21710527C>A | CA2681984665 | DNAH11 | c.6684-26C>A (n.6684-26C>A) c.6705-26C>A (n.6705-26C>A) | gnomAD v4 |
7 | g.21710527C= | CA1693636196 | DNAH11 | c.6684-26C= (n.6684-26C=) c.6705-26C= (n.6705-26C=) | |
7 | g.21710527C>T | CA1099223289 | DNAH11 | c.6684-26C>T (n.6684-26C>T) c.6705-26C>T (n.6705-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710528A= | CA1693636203 | DNAH11 | c.6684-25A= (n.6684-25A=) c.6705-25A= (n.6705-25A=) | |
7 | g.21710528A>G | CA572920601 | DNAH11 | c.6684-25A>G (n.6684-25A>G) c.6705-25A>G (n.6705-25A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710529G>A | CA1693636206 | DNAH11 | c.6684-24G>A (n.6684-24G>A) c.6705-24G>A (n.6705-24G>A) | dbSNP gnomAD v4 |
7 | g.21710529G= | CA1693636205 | DNAH11 | c.6684-24G= (n.6684-24G=) c.6705-24G= (n.6705-24G=) | |
7 | g.21710529G>T | CA2681984666 | DNAH11 | c.6684-24G>T (n.6684-24G>T) c.6705-24G>T (n.6705-24G>T) | gnomAD v4 |
7 | g.21710530C>A | CA2681984667 | DNAH11 | c.6684-23C>A (n.6684-23C>A) c.6705-23C>A (n.6705-23C>A) | gnomAD v4 |
7 | g.21710530C>G | CA2681984668 | DNAH11 | c.6684-23C>G (n.6684-23C>G) c.6705-23C>G (n.6705-23C>G) | gnomAD v4 |
7 | g.21710531A= | CA1693636208 | DNAH11 | c.6684-22A= (n.6684-22A=) c.6705-22A= (n.6705-22A=) | |
7 | g.21710531A>G | CA572920602 | DNAH11 | c.6684-22A>G (n.6684-22A>G) c.6705-22A>G (n.6705-22A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710532C= | CA1693636210 | DNAH11 | c.6684-21C= (n.6684-21C=) c.6705-21C= (n.6705-21C=) | |
7 | g.21710532C>G | CA4180948 | DNAH11 | c.6684-21C>G (n.6684-21C>G) c.6705-21C>G (n.6705-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710533T>C | CA4180949 | DNAH11 | c.6684-20T>C (n.6684-20T>C) c.6705-20T>C (n.6705-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710533T= | CA1693636213 | DNAH11 | c.6684-20T= (n.6684-20T=) c.6705-20T= (n.6705-20T=) | |
7 | g.21710533_21710540delinsTCAACTAC | CA1693636214 | DNAH11 | c.6684-20_6684-13delinsTCAACTAC (n.6684-20_6684-13delinsTCAACTAC) c.6705-20_6705-13delinsTCAACTAC (n.6705-20_6705-13delinsTCAACTAC) | |
7 | g.21710534C>G | CA2681984669 | DNAH11 | c.6684-19C>G (n.6684-19C>G) c.6705-19C>G (n.6705-19C>G) | ClinVar gnomAD v4 |
7 | g.21710534_21710540del | CA1693636218 | DNAH11 | c.6684-19_6684-13del (n.6684-19_6684-13del) c.6705-19_6705-13del (n.6705-19_6705-13del) | dbSNP gnomAD v4 |
7 | g.21710535A>C | CA2774677731 | DNAH11 | c.6684-18A>C (n.6684-18A>C) c.6705-18A>C (n.6705-18A>C) | |
7 | g.21710536A>G | CA2681984670 | DNAH11 | c.6684-17A>G (n.6684-17A>G) c.6705-17A>G (n.6705-17A>G) | gnomAD v4 |
7 | g.21710537C>A | CA2681984671 | DNAH11 | c.6684-16C>A (n.6684-16C>A) c.6705-16C>A (n.6705-16C>A) | gnomAD v4 |
7 | g.21710537C= | CA1693636224 | DNAH11 | c.6684-16C= (n.6684-16C=) c.6705-16C= (n.6705-16C=) | |
7 | g.21710537C>G | CA1099223291 | DNAH11 | c.6684-16C>G (n.6684-16C>G) c.6705-16C>G (n.6705-16C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710537C>T | CA2681984672 | DNAH11 | c.6684-16C>T (n.6684-16C>T) c.6705-16C>T (n.6705-16C>T) | gnomAD v4 |
7 | g.21710538T>C | CA1099223301 | DNAH11 | c.6684-15T>C (n.6684-15T>C) c.6705-15T>C (n.6705-15T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710538T= | CA1693636226 | DNAH11 | c.6684-15T= (n.6684-15T=) c.6705-15T= (n.6705-15T=) | |
7 | g.21710539A= | CA1693636229 | DNAH11 | c.6684-14A= (n.6684-14A=) c.6705-14A= (n.6705-14A=) | |
7 | g.21710539A>G | CA4180950 | DNAH11 | c.6684-14A>G (n.6684-14A>G) c.6705-14A>G (n.6705-14A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710540C>T | CA2681984673 | DNAH11 | c.6684-13C>T (n.6684-13C>T) c.6705-13C>T (n.6705-13C>T) | ClinVar gnomAD v4 |
7 | g.21710541A= | CA1693636233 | DNAH11 | c.6684-12A= (n.6684-12A=) c.6705-12A= (n.6705-12A=) | |
7 | g.21710541A>G | CA2681984674 | DNAH11 | c.6684-12A>G (n.6684-12A>G) c.6705-12A>G (n.6705-12A>G) | gnomAD v4 |
7 | g.21710541A>T | CA1099223308 | DNAH11 | c.6684-12A>T (n.6684-12A>T) c.6705-12A>T (n.6705-12A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710543T>G | CA1693636237 | DNAH11 | c.6684-10T>G (n.6684-10T>G) c.6705-10T>G (n.6705-10T>G) | dbSNP |
7 | g.21710543T= | CA1693636238 | DNAH11 | c.6684-10T= (n.6684-10T=) c.6705-10T= (n.6705-10T=) | |
7 | g.21710544A>G | CA2739266316 | DNAH11 | c.6684-9A>G (n.6684-9A>G) c.6705-9A>G (n.6705-9A>G) | ClinVar |
7 | g.21710546A= | CA1693636247 | DNAH11 | c.6684-7A= (n.6684-7A=) c.6705-7A= (n.6705-7A=) | |
7 | g.21710546A>G | CA4180951 | DNAH11 | c.6684-7A>G (n.6684-7A>G) c.6705-7A>G (n.6705-7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710547T>C | CA155081388 | DNAH11 | c.6684-6T>C (n.6684-6T>C) c.6705-6T>C (n.6705-6T>C) | dbSNP gnomAD v4 |
7 | g.21710547T= | CA1693636254 | DNAH11 | c.6684-6T= (n.6684-6T=) c.6705-6T= (n.6705-6T=) | |
7 | g.21710548A= | CA1693636260 | DNAH11 | c.6684-5A= (n.6684-5A=) c.6705-5A= (n.6705-5A=) | |
7 | g.21710548A>G | CA4180952 | DNAH11 | c.6684-5A>G (n.6684-5A>G) c.6705-5A>G (n.6705-5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710551A>C | CA366939838 | DNAH11 | c.6684-2A>C (n.6684-2A>C) c.6705-2A>C (n.6705-2A>C) | |
7 | g.21710551A>G | CA366939835 | DNAH11 | c.6684-2A>G (n.6684-2A>G) c.6705-2A>G (n.6705-2A>G) | |
7 | g.21710551A>T | CA366939837 | DNAH11 | c.6684-2A>T (n.6684-2A>T) c.6705-2A>T (n.6705-2A>T) | |
7 | g.21710552G>A | CA155081390 | DNAH11 | c.6684-1G>A (n.6684-1G>A) c.6705-1G>A (n.6705-1G>A) | dbSNP gnomAD v4 |
7 | g.21710552G>C | CA366939840 | DNAH11 | c.6684-1G>C (n.6684-1G>C) c.6705-1G>C (n.6705-1G>C) | |
7 | g.21710552G= | CA1693636268 | DNAH11 | c.6684-1G= (n.6684-1G=) c.6705-1G= (n.6705-1G=) | |
7 | g.21710552G>T | CA366939842 | DNAH11 | c.6684-1G>T (n.6684-1G>T) c.6705-1G>T (n.6705-1G>T) | |
7 | g.21710553G>A | CA453965428 | DNAH11 | c.6684G>A (p.Lys2228=) c.6705G>A (p.Lys2235=) | |
7 | g.21710553G>C | CA366939844 | DNAH11 | c.6684G>C (p.Lys2228Asn) c.6705G>C (p.Lys2235Asn) | |
7 | g.21710553G>T | CA366939846 | DNAH11 | c.6684G>T (p.Lys2228Asn) c.6705G>T (p.Lys2235Asn) | gnomAD v4 |
7 | g.21710554A>C | CA366939852 | DNAH11 | c.6685A>C (p.Ile2229Leu) c.6706A>C (p.Ile2236Leu) | |
7 | g.21710554A>G | CA366939848 | DNAH11 | c.6685A>G (p.Ile2229Val) c.6706A>G (p.Ile2236Val) | |
7 | g.21710554A>T | CA366939850 | DNAH11 | c.6685A>T (p.Ile2229Phe) c.6706A>T (p.Ile2236Phe) | |
7 | g.21710555T>A | CA366939853 | DNAH11 | c.6686T>A (p.Ile2229Asn) c.6707T>A (p.Ile2236Asn) | |
7 | g.21710555T>C | CA366939854 | DNAH11 | c.6686T>C (p.Ile2229Thr) c.6707T>C (p.Ile2236Thr) | |
7 | g.21710555T>G | CA366939856 | DNAH11 | c.6686T>G (p.Ile2229Ser) c.6707T>G (p.Ile2236Ser) | gnomAD v4 |
7 | g.21710556T>A | CA453965430 | DNAH11 | c.6687T>A (p.Ile2229=) c.6708T>A (p.Ile2236=) | |
7 | g.21710556T>C | CA453965429 | DNAH11 | c.6687T>C (p.Ile2229=) c.6708T>C (p.Ile2236=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710556T>G | CA366939858 | DNAH11 | c.6687T>G (p.Ile2229Met) c.6708T>G (p.Ile2236Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710556T= | CA1693636273 | DNAH11 | c.6687T= (p.Ile2229=) c.6708T= (p.Ile2236=) | |
7 | g.21710557del | CA2681984675 | DNAH11 | c.6688del (p.Val2230PhefsTer6) c.6709del (p.Val2237PhefsTer6) | gnomAD v4 |
7 | g.21710557G>A | CA366939860 | DNAH11 | c.6688G>A (p.Val2230Ile) c.6709G>A (p.Val2237Ile) | |
7 | g.21710557G>C | CA366939861 | DNAH11 | c.6688G>C (p.Val2230Leu) c.6709G>C (p.Val2237Leu) | dbSNP gnomAD v4 |
7 | g.21710557G= | CA1693636277 | DNAH11 | c.6688G= (p.Val2230=) c.6709G= (p.Val2237=) | |
7 | g.21710557G>T | CA366939863 | DNAH11 | c.6688G>T (p.Val2230Phe) c.6709G>T (p.Val2237Phe) | |
7 | g.21710558T>A | CA4180953 | DNAH11 | c.6689T>A (p.Val2230Asp) c.6710T>A (p.Val2237Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710558T>C | CA366939865 | DNAH11 | c.6689T>C (p.Val2230Ala) c.6710T>C (p.Val2237Ala) | gnomAD v3 gnomAD v4 |
7 | g.21710558T>G | CA366939867 | DNAH11 | c.6689T>G (p.Val2230Gly) c.6710T>G (p.Val2237Gly) | |
7 | g.21710558T= | CA1693636280 | DNAH11 | c.6689T= (p.Val2230=) c.6710T= (p.Val2237=) | |
7 | g.21710559T>A | CA453965434 | DNAH11 | c.6690T>A (p.Val2230=) c.6711T>A (p.Val2237=) | |
7 | g.21710559T>C | CA453965435 | DNAH11 | c.6690T>C (p.Val2230=) c.6711T>C (p.Val2237=) | |
7 | g.21710559T>G | CA453965436 | DNAH11 | c.6690T>G (p.Val2230=) c.6711T>G (p.Val2237=) | |
7 | g.21710560T>A | CA4180954 | DNAH11 | c.6691T>A (p.Tyr2231Asn) c.6712T>A (p.Tyr2238Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710560T>C | CA366939870 | DNAH11 | c.6691T>C (p.Tyr2231His) c.6712T>C (p.Tyr2238His) | |
7 | g.21710560T>G | CA366939871 | DNAH11 | c.6691T>G (p.Tyr2231Asp) c.6712T>G (p.Tyr2238Asp) | |
7 | g.21710560T= | CA1693636282 | DNAH11 | c.6691T= (p.Tyr2231=) c.6712T= (p.Tyr2238=) | |
7 | g.21710561A>C | CA366939873 | DNAH11 | c.6692A>C (p.Tyr2231Ser) c.6713A>C (p.Tyr2238Ser) | |
7 | g.21710561A>G | CA366939876 | DNAH11 | c.6692A>G (p.Tyr2231Cys) c.6713A>G (p.Tyr2238Cys) | gnomAD v4 |
7 | g.21710561A>T | CA366939875 | DNAH11 | c.6692A>T (p.Tyr2231Phe) c.6713A>T (p.Tyr2238Phe) | |
7 | g.21710562C>A | CA366939878 | DNAH11 | c.6693C>A (p.Tyr2231Ter) c.6714C>A (p.Tyr2238Ter) | |
7 | g.21710562C= | CA1693636285 | DNAH11 | c.6693C= (p.Tyr2231=) c.6714C= (p.Tyr2238=) | |
7 | g.21710562C>G | CA366939880 | DNAH11 | c.6693C>G (p.Tyr2231Ter) c.6714C>G (p.Tyr2238Ter) | ClinVar gnomAD v4 |
7 | g.21710562C>T | CA155081403 | DNAH11 | c.6693C>T (p.Tyr2231=) c.6714C>T (p.Tyr2238=) | dbSNP gnomAD v4 |
7 | g.21710563T>A | CA366939883 | DNAH11 | c.6694T>A (p.Ser2232Thr) c.6715T>A (p.Ser2239Thr) | |
7 | g.21710563T>C | CA366939884 | DNAH11 | c.6694T>C (p.Ser2232Pro) c.6715T>C (p.Ser2239Pro) | |
7 | g.21710563T>G | CA366939886 | DNAH11 | c.6694T>G (p.Ser2232Ala) c.6715T>G (p.Ser2239Ala) | |
7 | g.21710564C>A | CA366939889 | DNAH11 | c.6695C>A (p.Ser2232Tyr) c.6716C>A (p.Ser2239Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710564C= | CA1693636288 | DNAH11 | c.6695C= (p.Ser2232=) c.6716C= (p.Ser2239=) | |
7 | g.21710564C>G | CA366939892 | DNAH11 | c.6695C>G (p.Ser2232Cys) c.6716C>G (p.Ser2239Cys) | |
7 | g.21710564C>T | CA366939894 | DNAH11 | c.6695C>T (p.Ser2232Phe) c.6716C>T (p.Ser2239Phe) | dbSNP gnomAD v4 |
7 | g.21710565T>A | CA453965438 | DNAH11 | c.6696T>A (p.Ser2232=) c.6717T>A (p.Ser2239=) | |
7 | g.21710565T>C | CA453965439 | DNAH11 | c.6696T>C (p.Ser2232=) c.6717T>C (p.Ser2239=) | gnomAD v4 |
7 | g.21710565T>G | CA453965440 | DNAH11 | c.6696T>G (p.Ser2232=) c.6717T>G (p.Ser2239=) | |
7 | g.21710566dup | CA2681984676 | DNAH11 | c.6697dup (p.Tyr2233LeufsTer17) c.6718dup (p.Tyr2240LeufsTer17) | gnomAD v4 |
7 | g.21710569_21710573del | CA2681984677 | DNAH11 | c.6700_6704del (p.Phe2234ArgfsTer14) c.6721_6725del (p.Phe2241ArgfsTer14) | gnomAD v4 |
7 | g.21710566T>A | CA366939898 | DNAH11 | c.6697T>A (p.Tyr2233Asn) c.6718T>A (p.Tyr2240Asn) | |
7 | g.21710566T>C | CA366939901 | DNAH11 | c.6697T>C (p.Tyr2233His) c.6718T>C (p.Tyr2240His) | |
7 | g.21710566T>G | CA366939902 | DNAH11 | c.6697T>G (p.Tyr2233Asp) c.6718T>G (p.Tyr2240Asp) | |
7 | g.21710567A= | CA1693636294 | DNAH11 | c.6698A= (p.Tyr2233=) c.6719A= (p.Tyr2240=) | |
7 | g.21710567A>C | CA366939910 | DNAH11 | c.6698A>C (p.Tyr2233Ser) c.6719A>C (p.Tyr2240Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710567A>G | CA4180955 | DNAH11 | c.6698A>G (p.Tyr2233Cys) c.6719A>G (p.Tyr2240Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710567A>T | CA366939906 | DNAH11 | c.6698A>T (p.Tyr2233Phe) c.6719A>T (p.Tyr2240Phe) | |
7 | g.21710568T>A | CA366939912 | DNAH11 | c.6699T>A (p.Tyr2233Ter) c.6720T>A (p.Tyr2240Ter) | |
7 | g.21710568T>C | CA4180956 | DNAH11 | c.6699T>C (p.Tyr2233=) c.6720T>C (p.Tyr2240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710568T>G | CA366939915 | DNAH11 | c.6699T>G (p.Tyr2233Ter) c.6720T>G (p.Tyr2240Ter) | COSMIC COSMIC |
7 | g.21710568T= | CA1693636308 | DNAH11 | c.6699T= (p.Tyr2233=) c.6720T= (p.Tyr2240=) | |
7 | g.21710569T>A | CA366939918 | DNAH11 | c.6700T>A (p.Phe2234Ile) c.6721T>A (p.Phe2241Ile) | |
7 | g.21710569T>C | CA366939920 | DNAH11 | c.6700T>C (p.Phe2234Leu) c.6721T>C (p.Phe2241Leu) | |
7 | g.21710569T>G | CA366939921 | DNAH11 | c.6700T>G (p.Phe2234Val) c.6721T>G (p.Phe2241Val) | dbSNP |
7 | g.21710569T= | CA1693636314 | DNAH11 | c.6700T= (p.Phe2234=) c.6721T= (p.Phe2241=) | |
7 | g.21710570T>A | CA366939923 | DNAH11 | c.6701T>A (p.Phe2234Tyr) c.6722T>A (p.Phe2241Tyr) | |
7 | g.21710570T>C | CA366939926 | DNAH11 | c.6701T>C (p.Phe2234Ser) c.6722T>C (p.Phe2241Ser) | |
7 | g.21710570T>G | CA366939930 | DNAH11 | c.6701T>G (p.Phe2234Cys) c.6722T>G (p.Phe2241Cys) | |
7 | g.21710571T>A | CA366939934 | DNAH11 | c.6702T>A (p.Phe2234Leu) c.6723T>A (p.Phe2241Leu) | |
7 | g.21710571T>C | CA4180957 | DNAH11 | c.6702T>C (p.Phe2234=) c.6723T>C (p.Phe2241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710571T>G | CA366939943 | DNAH11 | c.6702T>G (p.Phe2234Leu) c.6723T>G (p.Phe2241Leu) | |
7 | g.21710571T= | CA1693636321 | DNAH11 | c.6702T= (p.Phe2234=) c.6723T= (p.Phe2241=) | |
7 | g.21710572A= | CA1693636329 | DNAH11 | c.6703A= (p.Ile2235=) c.6724A= (p.Ile2242=) | |
7 | g.21710572A>C | CA366939947 | DNAH11 | c.6703A>C (p.Ile2235Leu) c.6724A>C (p.Ile2242Leu) | |
7 | g.21710572A>G | CA366939952 | DNAH11 | c.6703A>G (p.Ile2235Val) c.6724A>G (p.Ile2242Val) | dbSNP gnomAD v4 |
7 | g.21710572A>T | CA366939950 | DNAH11 | c.6703A>T (p.Ile2235Leu) c.6724A>T (p.Ile2242Leu) | |
7 | g.21710573T>A | CA366939955 | DNAH11 | c.6704T>A (p.Ile2235Lys) c.6725T>A (p.Ile2242Lys) | |
7 | g.21710573T>C | CA366939961 | DNAH11 | c.6704T>C (p.Ile2235Thr) c.6725T>C (p.Ile2242Thr) | dbSNP gnomAD v4 |
7 | g.21710573T>G | CA366939957 | DNAH11 | c.6704T>G (p.Ile2235Arg) c.6725T>G (p.Ile2242Arg) | |
7 | g.21710573T= | CA1693636333 | DNAH11 | c.6704T= (p.Ile2235=) c.6725T= (p.Ile2242=) | |
7 | g.21710574A>C | CA453965441 | DNAH11 | c.6705A>C (p.Ile2235=) c.6726A>C (p.Ile2242=) | |
7 | g.21710574A>G | CA366939966 | DNAH11 | c.6705A>G (p.Ile2235Met) c.6726A>G (p.Ile2242Met) | |
7 | g.21710574A>T | CA453965442 | DNAH11 | c.6705A>T (p.Ile2235=) c.6726A>T (p.Ile2242=) | |
7 | g.21710575G>A | CA366939971 | DNAH11 | c.6706G>A (p.Gly2236Ser) c.6727G>A (p.Gly2243Ser) | |
7 | g.21710575G>C | CA366939974 | DNAH11 | c.6706G>C (p.Gly2236Arg) c.6727G>C (p.Gly2243Arg) | ClinVar dbSNP |
7 | g.21710575G= | CA1693636344 | DNAH11 | c.6706G= (p.Gly2236=) c.6727G= (p.Gly2243=) | |
7 | g.21710575G>T | CA366939978 | DNAH11 | c.6706G>T (p.Gly2236Cys) c.6727G>T (p.Gly2243Cys) | dbSNP |
7 | g.21710576G>A | CA366939982 | DNAH11 | c.6707G>A (p.Gly2236Asp) c.6728G>A (p.Gly2243Asp) | |
7 | g.21710576G>C | CA366939986 | DNAH11 | c.6707G>C (p.Gly2236Ala) c.6728G>C (p.Gly2243Ala) | |
7 | g.21710576G= | CA1693636348 | DNAH11 | c.6707G= (p.Gly2236=) c.6728G= (p.Gly2243=) | |
7 | g.21710576G>T | CA366939989 | DNAH11 | c.6707G>T (p.Gly2236Val) c.6728G>T (p.Gly2243Val) | dbSNP |
7 | g.21710577T>A | CA453965444 | DNAH11 | c.6708T>A (p.Gly2236=) c.6729T>A (p.Gly2243=) | gnomAD v4 |
7 | g.21710577T>C | CA453965445 | DNAH11 | c.6708T>C (p.Gly2236=) c.6729T>C (p.Gly2243=) | |
7 | g.21710577T>G | CA4180958 | DNAH11 | c.6708T>G (p.Gly2236=) c.6729T>G (p.Gly2243=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710577T= | CA1693636351 | DNAH11 | c.6708T= (p.Gly2236=) c.6729T= (p.Gly2243=) | |
7 | g.21710578C>A | CA366939995 | DNAH11 | c.6709C>A (p.Leu2237Ile) c.6730C>A (p.Leu2244Ile) | |
7 | g.21710578C= | CA1693636355 | DNAH11 | c.6709C= (p.Leu2237=) c.6730C= (p.Leu2244=) | |
7 | g.21710578C>G | CA4180959 | DNAH11 | c.6709C>G (p.Leu2237Val) c.6730C>G (p.Leu2244Val) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.21710578C>T | CA366940001 | DNAH11 | c.6709C>T (p.Leu2237Phe) c.6730C>T (p.Leu2244Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.21710579T>A | CA366940009 | DNAH11 | c.6710T>A (p.Leu2237His) c.6731T>A (p.Leu2244His) | |
7 | g.21710579T>C | CA4180960 | DNAH11 | c.6710T>C (p.Leu2237Pro) c.6731T>C (p.Leu2244Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710579T>G | CA366940005 | DNAH11 | c.6710T>G (p.Leu2237Arg) c.6731T>G (p.Leu2244Arg) | |
7 | g.21710579T= | CA1693636361 | DNAH11 | c.6710T= (p.Leu2237=) c.6731T= (p.Leu2244=) | |
7 | g.21710580C>A | CA453965446 | DNAH11 | c.6711C>A (p.Leu2237=) c.6732C>A (p.Leu2244=) | gnomAD v4 |
7 | g.21710580C>G | CA453965447 | DNAH11 | c.6711C>G (p.Leu2237=) c.6732C>G (p.Leu2244=) | |
7 | g.21710580C>T | CA453965448 | DNAH11 | c.6711C>T (p.Leu2237=) c.6732C>T (p.Leu2244=) | gnomAD v4 |
7 | g.21710581T>A | CA366940016 | DNAH11 | c.6712T>A (p.Phe2238Ile) c.6733T>A (p.Phe2245Ile) | |
7 | g.21710581T>C | CA366940019 | DNAH11 | c.6712T>C (p.Phe2238Leu) c.6733T>C (p.Phe2245Leu) | dbSNP |
7 | g.21710581T>G | CA366940024 | DNAH11 | c.6712T>G (p.Phe2238Val) c.6733T>G (p.Phe2245Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710581T= | CA1693636366 | DNAH11 | c.6712T= (p.Phe2238=) c.6733T= (p.Phe2245=) | |
7 | g.21710582T>A | CA366940026 | DNAH11 | c.6713T>A (p.Phe2238Tyr) c.6734T>A (p.Phe2245Tyr) | gnomAD v4 |
7 | g.21710582T>C | CA366940030 | DNAH11 | c.6713T>C (p.Phe2238Ser) c.6734T>C (p.Phe2245Ser) | |
7 | g.21710582T>G | CA366940033 | DNAH11 | c.6713T>G (p.Phe2238Cys) c.6734T>G (p.Phe2245Cys) | |
7 | g.21710583C>A | CA366940036 | DNAH11 | c.6714C>A (p.Phe2238Leu) c.6735C>A (p.Phe2245Leu) | |
7 | g.21710583C= | CA1693636372 | DNAH11 | c.6714C= (p.Phe2238=) c.6735C= (p.Phe2245=) | |
7 | g.21710583C>G | CA4180961 | DNAH11 | c.6714C>G (p.Phe2238Leu) c.6735C>G (p.Phe2245Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710583C>T | CA453965449 | DNAH11 | c.6714C>T (p.Phe2238=) c.6735C>T (p.Phe2245=) | gnomAD v4 |
7 | g.21710584T>A | CA366940043 | DNAH11 | c.6715T>A (p.Ser2239Thr) c.6736T>A (p.Ser2246Thr) | |
7 | g.21710584T>C | CA366940045 | DNAH11 | c.6715T>C (p.Ser2239Pro) c.6736T>C (p.Ser2246Pro) | |
7 | g.21710584T>G | CA366940049 | DNAH11 | c.6715T>G (p.Ser2239Ala) c.6736T>G (p.Ser2246Ala) | |
7 | g.21710585C>A | CA366940067 | DNAH11 | c.6716C>A (p.Ser2239Ter) c.6737C>A (p.Ser2246Ter) | |
7 | g.21710585C= | CA1693636379 | DNAH11 | c.6716C= (p.Ser2239=) c.6737C= (p.Ser2246=) | |
7 | g.21710585C>G | CA366940064 | DNAH11 | c.6716C>G (p.Ser2239Ter) c.6737C>G (p.Ser2246Ter) | |
7 | g.21710585C>T | CA366940061 | DNAH11 | c.6716C>T (p.Ser2239Leu) c.6737C>T (p.Ser2246Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710586A= | CA1693636385 | DNAH11 | c.6717A= (p.Ser2239=) c.6738A= (p.Ser2246=) | |
7 | g.21710586A>C | CA453965450 | DNAH11 | c.6717A>C (p.Ser2239=) c.6738A>C (p.Ser2246=) | |
7 | g.21710586A>G | CA4180962 | DNAH11 | c.6717A>G (p.Ser2239=) c.6738A>G (p.Ser2246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710586A>T | CA453965451 | DNAH11 | c.6717A>T (p.Ser2239=) c.6738A>T (p.Ser2246=) | |
7 | g.21710587T>A | CA366940073 | DNAH11 | c.6718T>A (p.Ser2240Thr) c.6739T>A (p.Ser2247Thr) | |
7 | g.21710587T>C | CA366940077 | DNAH11 | c.6718T>C (p.Ser2240Pro) c.6739T>C (p.Ser2247Pro) | |
7 | g.21710587T>G | CA366940087 | DNAH11 | c.6718T>G (p.Ser2240Ala) c.6739T>G (p.Ser2247Ala) | |
7 | g.21710588C>A | CA366940091 | DNAH11 | c.6719C>A (p.Ser2240Tyr) c.6740C>A (p.Ser2247Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710588C= | CA1693636394 | DNAH11 | c.6719C= (p.Ser2240=) c.6740C= (p.Ser2247=) | |
7 | g.21710588C>G | CA366940094 | DNAH11 | c.6719C>G (p.Ser2240Cys) c.6740C>G (p.Ser2247Cys) | |
7 | g.21710588C>T | CA366940098 | DNAH11 | c.6719C>T (p.Ser2240Phe) c.6740C>T (p.Ser2247Phe) | gnomAD v4 |
7 | g.21710589C>A | CA453965452 | DNAH11 | c.6720C>A (p.Ser2240=) c.6741C>A (p.Ser2247=) | |
7 | g.21710589C>G | CA453965453 | DNAH11 | c.6720C>G (p.Ser2240=) c.6741C>G (p.Ser2247=) | |
7 | g.21710589C>T | CA453965454 | DNAH11 | c.6720C>T (p.Ser2240=) c.6741C>T (p.Ser2247=) | |
7 | g.21710590A= | CA1693636404 | DNAH11 | c.6721A= (p.Ile2241=) c.6742A= (p.Ile2248=) | |
7 | g.21710590A>C | CA4180964 | DNAH11 | c.6721A>C (p.Ile2241Leu) c.6742A>C (p.Ile2248Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710590A>G | CA4180963 | DNAH11 | c.6721A>G (p.Ile2241Val) c.6742A>G (p.Ile2248Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710590A>T | CA366940103 | DNAH11 | c.6721A>T (p.Ile2241Phe) c.6742A>T (p.Ile2248Phe) | |
7 | g.21710591T>A | CA366940107 | DNAH11 | c.6722T>A (p.Ile2241Asn) c.6743T>A (p.Ile2248Asn) | |
7 | g.21710591T>C | CA366940110 | DNAH11 | c.6722T>C (p.Ile2241Thr) c.6743T>C (p.Ile2248Thr) | |
7 | g.21710591T>G | CA366940114 | DNAH11 | c.6722T>G (p.Ile2241Ser) c.6743T>G (p.Ile2248Ser) | |
7 | g.21710592T>A | CA453965455 | DNAH11 | c.6723T>A (p.Ile2241=) c.6744T>A (p.Ile2248=) | |
7 | g.21710592T>C | CA453965456 | DNAH11 | c.6723T>C (p.Ile2241=) c.6744T>C (p.Ile2248=) | |
7 | g.21710592T>G | CA366940118 | DNAH11 | c.6723T>G (p.Ile2241Met) c.6744T>G (p.Ile2248Met) | |
7 | g.21710593C>A | CA366940123 | DNAH11 | c.6724C>A (p.Leu2242Ile) c.6745C>A (p.Leu2249Ile) | |
7 | g.21710593C= | CA1693636410 | DNAH11 | c.6724C= (p.Leu2242=) c.6745C= (p.Leu2249=) | |
7 | g.21710593C>G | CA4180965 | DNAH11 | c.6724C>G (p.Leu2242Val) c.6745C>G (p.Leu2249Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710593C>T | CA4180966 | DNAH11 | c.6724C>T (p.Leu2242=) c.6745C>T (p.Leu2249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21710594T>A | CA366940131 | DNAH11 | c.6725T>A (p.Leu2242Gln) c.6746T>A (p.Leu2249Gln) | |
7 | g.21710594T>C | CA366940134 | DNAH11 | c.6725T>C (p.Leu2242Pro) c.6746T>C (p.Leu2249Pro) | dbSNP |
7 | g.21710594T>G | CA366940137 | DNAH11 | c.6725T>G (p.Leu2242Arg) c.6746T>G (p.Leu2249Arg) | |
7 | g.21710595A= | CA1693636423 | DNAH11 | c.6726A= (p.Leu2242=) c.6747A= (p.Leu2249=) | |
7 | g.21710595A>C | CA4180968 | DNAH11 | c.6726A>C (p.Leu2242=) c.6747A>C (p.Leu2249=) | dbSNP ExAC gnomAD v4 |
7 | g.21710595A>G | CA4180967 | DNAH11 | c.6726A>G (p.Leu2242=) c.6747A>G (p.Leu2249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710595A>T | CA453965457 | DNAH11 | c.6726A>T (p.Leu2242=) c.6747A>T (p.Leu2249=) | gnomAD v4 |
7 | g.21710596C>A | CA453965458 | DNAH11 | c.6727C>A (p.Arg2243=) c.6748C>A (p.Arg2250=) | dbSNP |
7 | g.21710596C= | CA1693636438 | DNAH11 | c.6727C= (p.Arg2243=) c.6748C= (p.Arg2250=) | |
7 | g.21710596C>G | CA366940148 | DNAH11 | c.6727C>G (p.Arg2243Gly) c.6748C>G (p.Arg2250Gly) | gnomAD v4 |
7 | g.21710596C>T | CA4180969 | DNAH11 | c.6727C>T (p.Arg2243Ter) c.6748C>T (p.Arg2250Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710597G>A | CA4180970 | DNAH11 | c.6728G>A (p.Arg2243Gln) c.6749G>A (p.Arg2250Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21710597G>C | CA366940160 | DNAH11 | c.6728G>C (p.Arg2243Pro) c.6749G>C (p.Arg2250Pro) | dbSNP gnomAD v4 |
7 | g.21710597G= | CA1693636449 | DNAH11 | c.6728G= (p.Arg2243=) c.6749G= (p.Arg2250=) | |
7 | g.21710597G>T | CA366940163 | DNAH11 | c.6728G>T (p.Arg2243Leu) c.6749G>T (p.Arg2250Leu) | gnomAD v4 |
7 | g.21710598A>C | CA453965459 | DNAH11 | c.6729A>C (p.Arg2243=) c.6750A>C (p.Arg2250=) | |
7 | g.21710598A>G | CA453965460 | DNAH11 | c.6729A>G (p.Arg2243=) c.6750A>G (p.Arg2250=) | |
7 | g.21710598A>T | CA453965461 | DNAH11 | c.6729A>T (p.Arg2243=) c.6750A>T (p.Arg2250=) | |
7 | g.21710599G>A | CA366940169 | DNAH11 | c.6730G>A (p.Glu2244Lys) c.6751G>A (p.Glu2251Lys) | |
7 | g.21710599G>C | CA366940168 | DNAH11 | c.6730G>C (p.Glu2244Gln) c.6751G>C (p.Glu2251Gln) | |
7 | g.21710599G>T | CA366940167 | DNAH11 | c.6730G>T (p.Glu2244Ter) c.6751G>T (p.Glu2251Ter) | |
7 | g.21710600A>C | CA366940170 | DNAH11 | c.6731A>C (p.Glu2244Ala) c.6752A>C (p.Glu2251Ala) | |
7 | g.21710600A>G | CA366940174 | DNAH11 | c.6731A>G (p.Glu2244Gly) c.6752A>G (p.Glu2251Gly) | |
7 | g.21710600A>T | CA366940171 | DNAH11 | c.6731A>T (p.Glu2244Val) c.6752A>T (p.Glu2251Val) | |
7 | g.21710601A>C | CA366940177 | DNAH11 | c.6732A>C (p.Glu2244Asp) c.6753A>C (p.Glu2251Asp) | |
7 | g.21710601A>G | CA453965462 | DNAH11 | c.6732A>G (p.Glu2244=) c.6753A>G (p.Glu2251=) | |
7 | g.21710601A>T | CA366940180 | DNAH11 | c.6732A>T (p.Glu2244Asp) c.6753A>T (p.Glu2251Asp) | gnomAD v4 |
7 | g.21710602C>A | CA366940184 | DNAH11 | c.6733C>A (p.Gln2245Lys) c.6754C>A (p.Gln2252Lys) | |
7 | g.21710602C= | CA1693636452 | DNAH11 | c.6733C= (p.Gln2245=) c.6754C= (p.Gln2252=) | |
7 | g.21710602C>G | CA366940187 | DNAH11 | c.6733C>G (p.Gln2245Glu) c.6754C>G (p.Gln2252Glu) | gnomAD v4 |
7 | g.21710602C>T | CA4180971 | DNAH11 | c.6733C>T (p.Gln2245Ter) c.6754C>T (p.Gln2252Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710603A>C | CA366940191 | DNAH11 | c.6734A>C (p.Gln2245Pro) c.6755A>C (p.Gln2252Pro) | |
7 | g.21710603A>G | CA366940192 | DNAH11 | c.6734A>G (p.Gln2245Arg) c.6755A>G (p.Gln2252Arg) | |
7 | g.21710603A>T | CA366940193 | DNAH11 | c.6734A>T (p.Gln2245Leu) c.6755A>T (p.Gln2252Leu) |