Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
7 | g.21710604A>C | CA366940194 | DNAH11 | c.6735A>C (p.Gln2245His) c.6756A>C (p.Gln2252His) | |
7 | g.21710604A>G | CA453965463 | DNAH11 | c.6735A>G (p.Gln2245=) c.6756A>G (p.Gln2252=) | |
7 | g.21710604A>T | CA366940195 | DNAH11 | c.6735A>T (p.Gln2245His) c.6756A>T (p.Gln2252His) | |
7 | g.21710605G>A | CA366940197 | DNAH11 | c.6736G>A (p.Ala2246Thr) c.6757G>A (p.Ala2253Thr) | |
7 | g.21710605G>C | CA366940199 | DNAH11 | c.6736G>C (p.Ala2246Pro) c.6757G>C (p.Ala2253Pro) | ClinVar dbSNP |
7 | g.21710605G= | CA1693636459 | DNAH11 | c.6736G= (p.Ala2246=) c.6757G= (p.Ala2253=) | |
7 | g.21710605G>T | CA366940201 | DNAH11 | c.6736G>T (p.Ala2246Ser) c.6757G>T (p.Ala2253Ser) | |
7 | g.21710606C>A | CA4180972 | DNAH11 | c.6737C>A (p.Ala2246Glu) c.6758C>A (p.Ala2253Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710606C= | CA1693636465 | DNAH11 | c.6737C= (p.Ala2246=) c.6758C= (p.Ala2253=) | |
7 | g.21710606C>G | CA366940204 | DNAH11 | c.6737C>G (p.Ala2246Gly) c.6758C>G (p.Ala2253Gly) | |
7 | g.21710606C>T | CA366940207 | DNAH11 | c.6737C>T (p.Ala2246Val) c.6758C>T (p.Ala2253Val) | |
7 | g.21710607A= | CA1693636471 | DNAH11 | c.6738A= (p.Ala2246=) c.6759A= (p.Ala2253=) | |
7 | g.21710607A>C | CA453965464 | DNAH11 | c.6738A>C (p.Ala2246=) c.6759A>C (p.Ala2253=) | |
7 | g.21710607A>G | CA453965465 | DNAH11 | c.6738A>G (p.Ala2246=) c.6759A>G (p.Ala2253=) | |
7 | g.21710607A>T | CA453965466 | DNAH11 | c.6738A>T (p.Ala2246=) c.6759A>T (p.Ala2253=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710608A>C | CA366940214 | DNAH11 | c.6739A>C (p.Asn2247His) c.6760A>C (p.Asn2254His) | COSMIC COSMIC |
7 | g.21710608A>G | CA366940216 | DNAH11 | c.6739A>G (p.Asn2247Asp) c.6760A>G (p.Asn2254Asp) | |
7 | g.21710608A>T | CA366940218 | DNAH11 | c.6739A>T (p.Asn2247Tyr) c.6760A>T (p.Asn2254Tyr) | gnomAD v4 |
7 | g.21710609A= | CA1693636474 | DNAH11 | c.6740A= (p.Asn2247=) c.6761A= (p.Asn2254=) | |
7 | g.21710609A>C | CA366940222 | DNAH11 | c.6740A>C (p.Asn2247Thr) c.6761A>C (p.Asn2254Thr) | |
7 | g.21710609A>G | CA366940225 | DNAH11 | c.6740A>G (p.Asn2247Ser) c.6761A>G (p.Asn2254Ser) | dbSNP |
7 | g.21710609A>T | CA366940228 | DNAH11 | c.6740A>T (p.Asn2247Ile) c.6761A>T (p.Asn2254Ile) | |
7 | g.21710610T>A | CA366940231 | DNAH11 | c.6741T>A (p.Asn2247Lys) c.6762T>A (p.Asn2254Lys) |