Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21748648_21748651delinsACAG | CA16612218 | DNAH11 | c.8579_8582delinsACAG (p.Gly2860_Lys2861delinsAspArg) c.8600_8603delinsACAG (p.Gly2867_Lys2868delinsAspArg) | ClinVar dbSNP |
7 | g.21748648_21748651delinsGCAA | CA1693662107 | DNAH11 | c.8579_8582delinsGCAA (p.Gly2860=) c.8600_8603delinsGCAA (p.Gly2867=) | |
7 | g.21748651A>C | CA366955185 | DNAH11 | c.8582A>C (p.Lys2861Thr) c.8603A>C (p.Lys2868Thr) | |
7 | g.21748651A>G | CA366955190 | DNAH11 | c.8582A>G (p.Lys2861Arg) c.8603A>G (p.Lys2868Arg) | |
7 | g.21748651A>T | CA366955193 | DNAH11 | c.8582A>T (p.Lys2861Met) c.8603A>T (p.Lys2868Met) | |
7 | g.21748652G>A | CA453968503 | DNAH11 | c.8583G>A (p.Lys2861=) c.8604G>A (p.Lys2868=) | gnomAD v4 |
7 | g.21748652G>C | CA366955197 | DNAH11 | c.8583G>C (p.Lys2861Asn) c.8604G>C (p.Lys2868Asn) | |
7 | g.21748652G>T | CA366955201 | DNAH11 | c.8583G>T (p.Lys2861Asn) c.8604G>T (p.Lys2868Asn) | |
7 | g.21748653C>A | CA366955204 | DNAH11 | c.8584C>A (p.Gln2862Lys) c.8605C>A (p.Gln2869Lys) | |
7 | g.21748653C>G | CA366955205 | DNAH11 | c.8584C>G (p.Gln2862Glu) c.8605C>G (p.Gln2869Glu) | |
7 | g.21748653C>T | CA366955207 | DNAH11 | c.8584C>T (p.Gln2862Ter) c.8605C>T (p.Gln2869Ter) | |
7 | g.21748654A>C | CA366955209 | DNAH11 | c.8585A>C (p.Gln2862Pro) c.8606A>C (p.Gln2869Pro) | |
7 | g.21748654A>G | CA366955213 | DNAH11 | c.8585A>G (p.Gln2862Arg) c.8606A>G (p.Gln2869Arg) | |
7 | g.21748654A>T | CA366955211 | DNAH11 | c.8585A>T (p.Gln2862Leu) c.8606A>T (p.Gln2869Leu) | |
7 | g.21748655G>A | CA453968507 | DNAH11 | c.8586G>A (p.Gln2862=) c.8607G>A (p.Gln2869=) | |
7 | g.21748655G>C | CA366955216 | DNAH11 | c.8586G>C (p.Gln2862His) c.8607G>C (p.Gln2869His) | dbSNP |
7 | g.21748655G= | CA1693662109 | DNAH11 | c.8586G= (p.Gln2862=) c.8607G= (p.Gln2869=) | |
7 | g.21748655G>T | CA366955218 | DNAH11 | c.8586G>T (p.Gln2862His) c.8607G>T (p.Gln2869His) | |
7 | g.21748656A= | CA1693662110 | DNAH11 | c.8587A= (p.Ser2863=) c.8608A= (p.Ser2870=) | |
7 | g.21748656A>C | CA366955221 | DNAH11 | c.8587A>C (p.Ser2863Arg) c.8608A>C (p.Ser2870Arg) | |
7 | g.21748656A>G | CA366955223 | DNAH11 | c.8587A>G (p.Ser2863Gly) c.8608A>G (p.Ser2870Gly) | dbSNP |
7 | g.21748656A>T | CA366955224 | DNAH11 | c.8587A>T (p.Ser2863Cys) c.8608A>T (p.Ser2870Cys) | |
7 | g.21748657G>A | CA366955227 | DNAH11 | c.8588G>A (p.Ser2863Asn) c.8609G>A (p.Ser2870Asn) | |
7 | g.21748657G>C | CA4181655 | DNAH11 | c.8588G>C (p.Ser2863Thr) c.8609G>C (p.Ser2870Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748657G= | CA1693662111 | DNAH11 | c.8588G= (p.Ser2863=) c.8609G= (p.Ser2870=) | |
7 | g.21748657G>T | CA366955229 | DNAH11 | c.8588G>T (p.Ser2863Ile) c.8609G>T (p.Ser2870Ile) | |
7 | g.21748658C>A | CA366955231 | DNAH11 | c.8589C>A (p.Ser2863Arg) c.8610C>A (p.Ser2870Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748658C= | CA1693662112 | DNAH11 | c.8589C= (p.Ser2863=) c.8610C= (p.Ser2870=) | |
7 | g.21748658C>G | CA4181656 | DNAH11 | c.8589C>G (p.Ser2863Arg) c.8610C>G (p.Ser2870Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748658C>T | CA453968513 | DNAH11 | c.8589C>T (p.Ser2863=) c.8610C>T (p.Ser2870=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748659T>A | CA366955232 | DNAH11 | c.8590T>A (p.Leu2864Met) c.8611T>A (p.Leu2871Met) | |
7 | g.21748659T>C | CA453968514 | DNAH11 | c.8590T>C (p.Leu2864=) c.8611T>C (p.Leu2871=) | |
7 | g.21748659T>G | CA366955233 | DNAH11 | c.8590T>G (p.Leu2864Val) c.8611T>G (p.Leu2871Val) | |
7 | g.21748660T>A | CA366955234 | DNAH11 | c.8591T>A (p.Leu2864Ter) c.8612T>A (p.Leu2871Ter) | gnomAD v4 |
7 | g.21748660T>C | CA366955235 | DNAH11 | c.8591T>C (p.Leu2864Ser) c.8612T>C (p.Leu2871Ser) | |
7 | g.21748660T>G | CA366955236 | DNAH11 | c.8591T>G (p.Leu2864Trp) c.8612T>G (p.Leu2871Trp) | |
7 | g.21748661G>A | CA453968516 | DNAH11 | c.8592G>A (p.Leu2864=) c.8613G>A (p.Leu2871=) | |
7 | g.21748661G>C | CA366955237 | DNAH11 | c.8592G>C (p.Leu2864Phe) c.8613G>C (p.Leu2871Phe) | dbSNP gnomAD v4 |
7 | g.21748661G= | CA1693662113 | DNAH11 | c.8592G= (p.Leu2864=) c.8613G= (p.Leu2871=) | |
7 | g.21748661G>T | CA366955238 | DNAH11 | c.8592G>T (p.Leu2864Phe) c.8613G>T (p.Leu2871Phe) | |
7 | g.21748662T>A | CA366955247 | DNAH11 | c.8593T>A (p.Ser2865Thr) c.8614T>A (p.Ser2872Thr) | |
7 | g.21748662T>C | CA366955245 | DNAH11 | c.8593T>C (p.Ser2865Pro) c.8614T>C (p.Ser2872Pro) | |
7 | g.21748662T>G | CA366955239 | DNAH11 | c.8593T>G (p.Ser2865Ala) c.8614T>G (p.Ser2872Ala) | |
7 | g.21748663C>A | CA366955249 | DNAH11 | c.8594C>A (p.Ser2865Tyr) c.8615C>A (p.Ser2872Tyr) | COSMIC COSMIC |
7 | g.21748663C>G | CA366955250 | DNAH11 | c.8594C>G (p.Ser2865Cys) c.8615C>G (p.Ser2872Cys) | |
7 | g.21748663C>T | CA366955252 | DNAH11 | c.8594C>T (p.Ser2865Phe) c.8615C>T (p.Ser2872Phe) | COSMIC COSMIC |
7 | g.21748664C>A | CA453968519 | DNAH11 | c.8595C>A (p.Ser2865=) c.8616C>A (p.Ser2872=) | |
7 | g.21748664C= | CA1693662114 | DNAH11 | c.8595C= (p.Ser2865=) c.8616C= (p.Ser2872=) | |
7 | g.21748664C>G | CA453968521 | DNAH11 | c.8595C>G (p.Ser2865=) c.8616C>G (p.Ser2872=) | |
7 | g.21748664C>T | CA4181657 | DNAH11 | c.8595C>T (p.Ser2865=) c.8616C>T (p.Ser2872=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748665A>C | CA453968524 | DNAH11 | c.8596A>C (p.Arg2866=) c.8617A>C (p.Arg2873=) | gnomAD v4 |
7 | g.21748665A>G | CA366955254 | DNAH11 | c.8596A>G (p.Arg2866Gly) c.8617A>G (p.Arg2873Gly) | |
7 | g.21748665A>T | CA366955255 | DNAH11 | c.8596A>T (p.Arg2866Trp) c.8617A>T (p.Arg2873Trp) | |
7 | g.21748666G>A | CA366955258 | DNAH11 | c.8597G>A (p.Arg2866Lys) c.8618G>A (p.Arg2873Lys) | |
7 | g.21748666G>C | CA366955260 | DNAH11 | c.8597G>C (p.Arg2866Thr) c.8618G>C (p.Arg2873Thr) | |
7 | g.21748666G>T | CA366955259 | DNAH11 | c.8597G>T (p.Arg2866Met) c.8618G>T (p.Arg2873Met) | |
7 | g.21748667G>A | CA453968525 | DNAH11 | c.8598G>A (p.Arg2866=) c.8619G>A (p.Arg2873=) | ClinVar gnomAD v4 |
7 | g.21748667G>C | CA366955263 | DNAH11 | c.8598G>C (p.Arg2866Ser) c.8619G>C (p.Arg2873Ser) | gnomAD v4 |
7 | g.21748667G>T | CA366955265 | DNAH11 | c.8598G>T (p.Arg2866Ser) c.8619G>T (p.Arg2873Ser) | |
7 | g.21748668C>A | CA366955267 | DNAH11 | c.8599C>A (p.Leu2867Met) c.8620C>A (p.Leu2874Met) | |
7 | g.21748668C= | CA1693662115 | DNAH11 | c.8599C= (p.Leu2867=) c.8620C= (p.Leu2874=) | |
7 | g.21748668C>G | CA366955270 | DNAH11 | c.8599C>G (p.Leu2867Val) c.8620C>G (p.Leu2874Val) | |
7 | g.21748668C>T | CA155121342 | DNAH11 | c.8599C>T (p.Leu2867=) c.8620C>T (p.Leu2874=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748669del | CA2681987056 | DNAH11 | c.8600del (p.Leu2867ArgfsTer15) c.8621del (p.Leu2874ArgfsTer15) | gnomAD v4 |
7 | g.21748669T>A | CA366955273 | DNAH11 | c.8600T>A (p.Leu2867Gln) c.8621T>A (p.Leu2874Gln) | |
7 | g.21748669T>C | CA366955275 | DNAH11 | c.8600T>C (p.Leu2867Pro) c.8621T>C (p.Leu2874Pro) | |
7 | g.21748669T>G | CA366955276 | DNAH11 | c.8600T>G (p.Leu2867Arg) c.8621T>G (p.Leu2874Arg) | |
7 | g.21748670G>A | CA453968527 | DNAH11 | c.8601G>A (p.Leu2867=) c.8622G>A (p.Leu2874=) | dbSNP gnomAD v4 |
7 | g.21748670G>C | CA453968529 | DNAH11 | c.8601G>C (p.Leu2867=) c.8622G>C (p.Leu2874=) | |
7 | g.21748670G= | CA1693662116 | DNAH11 | c.8601G= (p.Leu2867=) c.8622G= (p.Leu2874=) | |
7 | g.21748670G>T | CA453968528 | DNAH11 | c.8601G>T (p.Leu2867=) c.8622G>T (p.Leu2874=) | gnomAD v4 |
7 | g.21748671G>A | CA366955278 | DNAH11 | c.8602G>A (p.Ala2868Thr) c.8623G>A (p.Ala2875Thr) | gnomAD v4 |
7 | g.21748671G>C | CA366955280 | DNAH11 | c.8602G>C (p.Ala2868Pro) c.8623G>C (p.Ala2875Pro) | |
7 | g.21748671G>T | CA366955282 | DNAH11 | c.8602G>T (p.Ala2868Ser) c.8623G>T (p.Ala2875Ser) | |
7 | g.21748672C>A | CA366955286 | DNAH11 | c.8603C>A (p.Ala2868Glu) c.8624C>A (p.Ala2875Glu) | |
7 | g.21748672C>G | CA366955285 | DNAH11 | c.8603C>G (p.Ala2868Gly) c.8624C>G (p.Ala2875Gly) | |
7 | g.21748672C>T | CA366955284 | DNAH11 | c.8603C>T (p.Ala2868Val) c.8624C>T (p.Ala2875Val) | gnomAD v4 |
7 | g.21748673A= | CA1693662117 | DNAH11 | c.8604A= (p.Ala2868=) c.8625A= (p.Ala2875=) | |
7 | g.21748673A>C | CA453968531 | DNAH11 | c.8604A>C (p.Ala2868=) c.8625A>C (p.Ala2875=) | |
7 | g.21748673A>G | CA453968532 | DNAH11 | c.8604A>G (p.Ala2868=) c.8625A>G (p.Ala2875=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748673A>T | CA453968533 | DNAH11 | c.8604A>T (p.Ala2868=) c.8625A>T (p.Ala2875=) | |
7 | g.21748674G>A | CA366955289 | DNAH11 | c.8605G>A (p.Ala2869Thr) c.8626G>A (p.Ala2876Thr) | |
7 | g.21748674G>C | CA366955291 | DNAH11 | c.8605G>C (p.Ala2869Pro) c.8626G>C (p.Ala2876Pro) | |
7 | g.21748674G>T | CA366955292 | DNAH11 | c.8605G>T (p.Ala2869Ser) c.8626G>T (p.Ala2876Ser) | |
7 | g.21748675C>A | CA366955293 | DNAH11 | c.8606C>A (p.Ala2869Asp) c.8627C>A (p.Ala2876Asp) | |
7 | g.21748675C>G | CA366955294 | DNAH11 | c.8606C>G (p.Ala2869Gly) c.8627C>G (p.Ala2876Gly) | |
7 | g.21748675C>T | CA366955296 | DNAH11 | c.8606C>T (p.Ala2869Val) c.8627C>T (p.Ala2876Val) | ClinVar dbSNP gnomAD v4 |
7 | g.21748676T>A | CA453968535 | DNAH11 | c.8607T>A (p.Ala2869=) c.8628T>A (p.Ala2876=) | |
7 | g.21748676T>C | CA453968536 | DNAH11 | c.8607T>C (p.Ala2869=) c.8628T>C (p.Ala2876=) | |
7 | g.21748676T>G | CA453968537 | DNAH11 | c.8607T>G (p.Ala2869=) c.8628T>G (p.Ala2876=) | |
7 | g.21748677T>A | CA366955299 | DNAH11 | c.8608T>A (p.Tyr2870Asn) c.8629T>A (p.Tyr2877Asn) | |
7 | g.21748677T>C | CA366955300 | DNAH11 | c.8608T>C (p.Tyr2870His) c.8629T>C (p.Tyr2877His) | |
7 | g.21748677T>G | CA366955301 | DNAH11 | c.8608T>G (p.Tyr2870Asp) c.8629T>G (p.Tyr2877Asp) | |
7 | g.21748678A= | CA1693662118 | DNAH11 | c.8609A= (p.Tyr2870=) c.8630A= (p.Tyr2877=) | |
7 | g.21748678A>C | CA366955302 | DNAH11 | c.8609A>C (p.Tyr2870Ser) c.8630A>C (p.Tyr2877Ser) | |
7 | g.21748678A>G | CA366955303 | DNAH11 | c.8609A>G (p.Tyr2870Cys) c.8630A>G (p.Tyr2877Cys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748678A>T | CA366955305 | DNAH11 | c.8609A>T (p.Tyr2870Phe) c.8630A>T (p.Tyr2877Phe) | |
7 | g.21748679C>A | CA366955307 | DNAH11 | c.8610C>A (p.Tyr2870Ter) c.8631C>A (p.Tyr2877Ter) | |
7 | g.21748679C= | CA1693662119 | DNAH11 | c.8610C= (p.Tyr2870=) c.8631C= (p.Tyr2877=) | |
7 | g.21748679C>G | CA10582483 | DNAH11 | c.8610C>G (p.Tyr2870Ter) c.8631C>G (p.Tyr2877Ter) | ClinVar dbSNP |
7 | g.21748679C>T | CA453968540 | DNAH11 | c.8610C>T (p.Tyr2870=) c.8631C>T (p.Tyr2877=) | ClinVar dbSNP |
7 | g.21748680C>A | CA366955313 | DNAH11 | c.8611C>A (p.Leu2871Ile) c.8632C>A (p.Leu2878Ile) | |
7 | g.21748680C= | CA1693662120 | DNAH11 | c.8611C= (p.Leu2871=) c.8632C= (p.Leu2878=) | |
7 | g.21748680C>G | CA4181658 | DNAH11 | c.8611C>G (p.Leu2871Val) c.8632C>G (p.Leu2878Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748680C>T | CA366955311 | DNAH11 | c.8611C>T (p.Leu2871Phe) c.8632C>T (p.Leu2878Phe) | |
7 | g.21748681T>A | CA366955316 | DNAH11 | c.8612T>A (p.Leu2871His) c.8633T>A (p.Leu2878His) | |
7 | g.21748681T>C | CA366955317 | DNAH11 | c.8612T>C (p.Leu2871Pro) c.8633T>C (p.Leu2878Pro) | gnomAD v4 |
7 | g.21748681T>G | CA366955320 | DNAH11 | c.8612T>G (p.Leu2871Arg) c.8633T>G (p.Leu2878Arg) | dbSNP |
7 | g.21748681T= | CA1693662121 | DNAH11 | c.8612T= (p.Leu2871=) c.8633T= (p.Leu2878=) | |
7 | g.21748682T>A | CA453968541 | DNAH11 | c.8613T>A (p.Leu2871=) c.8634T>A (p.Leu2878=) | COSMIC COSMIC |
7 | g.21748682T>C | CA453968542 | DNAH11 | c.8613T>C (p.Leu2871=) c.8634T>C (p.Leu2878=) | |
7 | g.21748682T>G | CA453968543 | DNAH11 | c.8613T>G (p.Leu2871=) c.8634T>G (p.Leu2878=) | |
7 | g.21748683C>A | CA366955323 | DNAH11 | c.8614C>A (p.Arg2872Ser) c.8635C>A (p.Arg2879Ser) | |
7 | g.21748683C= | CA1693662122 | DNAH11 | c.8614C= (p.Arg2872=) c.8635C= (p.Arg2879=) | |
7 | g.21748683C>G | CA366955325 | DNAH11 | c.8614C>G (p.Arg2872Gly) c.8635C>G (p.Arg2879Gly) | |
7 | g.21748683C>T | CA4181659 | DNAH11 | c.8614C>T (p.Arg2872Cys) c.8635C>T (p.Arg2879Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.21748684G>A | CA4181660 | DNAH11 | c.8615G>A (p.Arg2872His) c.8636G>A (p.Arg2879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21748684G>C | CA366955332 | DNAH11 | c.8615G>C (p.Arg2872Pro) c.8636G>C (p.Arg2879Pro) | |
7 | g.21748684G= | CA1693662123 | DNAH11 | c.8615G= (p.Arg2872=) c.8636G= (p.Arg2879=) | |
7 | g.21748684G>T | CA366955333 | DNAH11 | c.8615G>T (p.Arg2872Leu) c.8636G>T (p.Arg2879Leu) | |
7 | g.21748685T>A | CA453968545 | DNAH11 | c.8616T>A (p.Arg2872=) c.8637T>A (p.Arg2879=) | |
7 | g.21748685T>C | CA453968546 | DNAH11 | c.8616T>C (p.Arg2872=) c.8637T>C (p.Arg2879=) | gnomAD v4 |
7 | g.21748685T>G | CA453968547 | DNAH11 | c.8616T>G (p.Arg2872=) c.8637T>G (p.Arg2879=) | |
7 | g.21748686G>A | CA366955334 | DNAH11 | c.8617G>A (p.Gly2873Ser) c.8638G>A (p.Gly2880Ser) | gnomAD v4 |
7 | g.21748686G>C | CA366955335 | DNAH11 | c.8617G>C (p.Gly2873Arg) c.8638G>C (p.Gly2880Arg) | |
7 | g.21748686G>T | CA366955336 | DNAH11 | c.8617G>T (p.Gly2873Cys) c.8638G>T (p.Gly2880Cys) | |
7 | g.21748687G>A | CA155121362 | DNAH11 | c.8618G>A (p.Gly2873Asp) c.8639G>A (p.Gly2880Asp) | dbSNP COSMIC COSMIC |
7 | g.21748687G>C | CA366955339 | DNAH11 | c.8618G>C (p.Gly2873Ala) c.8639G>C (p.Gly2880Ala) | gnomAD v4 |
7 | g.21748687G= | CA1693662124 | DNAH11 | c.8618G= (p.Gly2873=) c.8639G= (p.Gly2880=) | |
7 | g.21748687G>T | CA366955341 | DNAH11 | c.8618G>T (p.Gly2873Val) c.8639G>T (p.Gly2880Val) | gnomAD v4 |
7 | g.21748688C>A | CA453968549 | DNAH11 | c.8619C>A (p.Gly2873=) c.8640C>A (p.Gly2880=) | |
7 | g.21748688C= | CA1693662125 | DNAH11 | c.8619C= (p.Gly2873=) c.8640C= (p.Gly2880=) | |
7 | g.21748688C>G | CA453968550 | DNAH11 | c.8619C>G (p.Gly2873=) c.8640C>G (p.Gly2880=) | |
7 | g.21748688C>T | CA453968551 | DNAH11 | c.8619C>T (p.Gly2873=) c.8640C>T (p.Gly2880=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748689C>A | CA366955346 | DNAH11 | c.8620C>A (p.Leu2874Ile) c.8641C>A (p.Leu2881Ile) | |
7 | g.21748689C= | CA1693662126 | DNAH11 | c.8620C= (p.Leu2874=) c.8641C= (p.Leu2881=) | |
7 | g.21748689C>G | CA366955348 | DNAH11 | c.8620C>G (p.Leu2874Val) c.8641C>G (p.Leu2881Val) | |
7 | g.21748689C>T | CA16612337 | DNAH11 | c.8620C>T (p.Leu2874Phe) c.8641C>T (p.Leu2881Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.21748690T>A | CA366955350 | DNAH11 | c.8621T>A (p.Leu2874His) c.8642T>A (p.Leu2881His) | |
7 | g.21748690T>C | CA366955352 | DNAH11 | c.8621T>C (p.Leu2874Pro) c.8642T>C (p.Leu2881Pro) | |
7 | g.21748690T>G | CA366955353 | DNAH11 | c.8621T>G (p.Leu2874Arg) c.8642T>G (p.Leu2881Arg) | |
7 | g.21748691T>A | CA453968554 | DNAH11 | c.8622T>A (p.Leu2874=) c.8643T>A (p.Leu2881=) | |
7 | g.21748691T>C | CA453968555 | DNAH11 | c.8622T>C (p.Leu2874=) c.8643T>C (p.Leu2881=) | |
7 | g.21748691T>G | CA453968556 | DNAH11 | c.8622T>G (p.Leu2874=) c.8643T>G (p.Leu2881=) | |
7 | g.21748692G>A | CA366955354 | DNAH11 | c.8623G>A (p.Glu2875Lys) c.8644G>A (p.Glu2882Lys) | |
7 | g.21748692G>C | CA366955356 | DNAH11 | c.8623G>C (p.Glu2875Gln) c.8644G>C (p.Glu2882Gln) | ClinVar |
7 | g.21748692G>T | CA366955358 | DNAH11 | c.8623G>T (p.Glu2875Ter) c.8644G>T (p.Glu2882Ter) | |
7 | g.21748693A>C | CA366955364 | DNAH11 | c.8624A>C (p.Glu2875Ala) c.8645A>C (p.Glu2882Ala) | |
7 | g.21748693A>G | CA366955360 | DNAH11 | c.8624A>G (p.Glu2875Gly) c.8645A>G (p.Glu2882Gly) | |
7 | g.21748693A>T | CA366955362 | DNAH11 | c.8624A>T (p.Glu2875Val) c.8645A>T (p.Glu2882Val) | |
7 | g.21748694G>A | CA453968559 | DNAH11 | c.8625G>A (p.Glu2875=) c.8646G>A (p.Glu2882=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748694G>C | CA366955366 | DNAH11 | c.8625G>C (p.Glu2875Asp) c.8646G>C (p.Glu2882Asp) | |
7 | g.21748694G= | CA1693662127 | DNAH11 | c.8625G= (p.Glu2875=) c.8646G= (p.Glu2882=) | |
7 | g.21748694G>T | CA366955368 | DNAH11 | c.8625G>T (p.Glu2875Asp) c.8646G>T (p.Glu2882Asp) | |
7 | g.21748695G>A | CA366955371 | DNAH11 | c.8626G>A (p.Val2876Ile) c.8647G>A (p.Val2883Ile) | |
7 | g.21748695G>C | CA366955373 | DNAH11 | c.8626G>C (p.Val2876Leu) c.8647G>C (p.Val2883Leu) | |
7 | g.21748695G>T | CA366955375 | DNAH11 | c.8626G>T (p.Val2876Phe) c.8647G>T (p.Val2883Phe) | |
7 | g.21748696T>A | CA366955376 | DNAH11 | c.8627T>A (p.Val2876Asp) c.8648T>A (p.Val2883Asp) | |
7 | g.21748696T>C | CA4181661 | DNAH11 | c.8627T>C (p.Val2876Ala) c.8648T>C (p.Val2883Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748696T>G | CA366955377 | DNAH11 | c.8627T>G (p.Val2876Gly) c.8648T>G (p.Val2883Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748696T= | CA1693662128 | DNAH11 | c.8627T= (p.Val2876=) c.8648T= (p.Val2883=) | |
7 | g.21748697C>A | CA453968561 | DNAH11 | c.8628C>A (p.Val2876=) c.8649C>A (p.Val2883=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.21748697C= | CA1693662129 | DNAH11 | c.8628C= (p.Val2876=) c.8649C= (p.Val2883=) | |
7 | g.21748697C>G | CA453968562 | DNAH11 | c.8628C>G (p.Val2876=) c.8649C>G (p.Val2883=) | gnomAD v4 |
7 | g.21748697C>T | CA453968563 | DNAH11 | c.8628C>T (p.Val2876=) c.8649C>T (p.Val2883=) | |
7 | g.21748698T>A | CA366955380 | DNAH11 | c.8629T>A (p.Phe2877Ile) c.8650T>A (p.Phe2884Ile) | |
7 | g.21748698T>C | CA366955385 | DNAH11 | c.8629T>C (p.Phe2877Leu) c.8650T>C (p.Phe2884Leu) | |
7 | g.21748698T>G | CA366955386 | DNAH11 | c.8629T>G (p.Phe2877Val) c.8650T>G (p.Phe2884Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748698T= | CA1693662130 | DNAH11 | c.8629T= (p.Phe2877=) c.8650T= (p.Phe2884=) | |
7 | g.21748699T>A | CA366955391 | DNAH11 | c.8630T>A (p.Phe2877Tyr) c.8651T>A (p.Phe2884Tyr) | |
7 | g.21748699T>C | CA366955393 | DNAH11 | c.8630T>C (p.Phe2877Ser) c.8651T>C (p.Phe2884Ser) | dbSNP |
7 | g.21748699T>G | CA366955394 | DNAH11 | c.8630T>G (p.Phe2877Cys) c.8651T>G (p.Phe2884Cys) | |
7 | g.21748699T= | CA1693662131 | DNAH11 | c.8630T= (p.Phe2877=) c.8651T= (p.Phe2884=) | |
7 | g.21748700T>A | CA366955396 | DNAH11 | c.8631T>A (p.Phe2877Leu) c.8652T>A (p.Phe2884Leu) | |
7 | g.21748700T>C | CA453968564 | DNAH11 | c.8631T>C (p.Phe2877=) c.8652T>C (p.Phe2884=) | |
7 | g.21748700T>G | CA366955398 | DNAH11 | c.8631T>G (p.Phe2877Leu) c.8652T>G (p.Phe2884Leu) | |
7 | g.21748701C>A | CA366955401 | DNAH11 | c.8632C>A (p.Gln2878Lys) c.8653C>A (p.Gln2885Lys) | gnomAD v4 |
7 | g.21748701C>G | CA366955403 | DNAH11 | c.8632C>G (p.Gln2878Glu) c.8653C>G (p.Gln2885Glu) | |
7 | g.21748701C>T | CA366955404 | DNAH11 | c.8632C>T (p.Gln2878Ter) c.8653C>T (p.Gln2885Ter) | gnomAD v4 |
7 | g.21748702A>C | CA366955408 | DNAH11 | c.8633A>C (p.Gln2878Pro) c.8654A>C (p.Gln2885Pro) | |
7 | g.21748702A>G | CA366955405 | DNAH11 | c.8633A>G (p.Gln2878Arg) c.8654A>G (p.Gln2885Arg) | |
7 | g.21748702A>T | CA366955406 | DNAH11 | c.8633A>T (p.Gln2878Leu) c.8654A>T (p.Gln2885Leu) | |
7 | g.21748703G>A | CA453968566 | DNAH11 | c.8634G>A (p.Gln2878=) c.8655G>A (p.Gln2885=) | |
7 | g.21748703G>C | CA366955411 | DNAH11 | c.8634G>C (p.Gln2878His) c.8655G>C (p.Gln2885His) | |
7 | g.21748703G>T | CA366955412 | DNAH11 | c.8634G>T (p.Gln2878His) c.8655G>T (p.Gln2885His) | |
7 | g.21748704A= | CA1693662132 | DNAH11 | c.8635A= (p.Ile2879=) c.8656A= (p.Ile2886=) | |
7 | g.21748704A>C | CA4181662 | DNAH11 | c.8635A>C (p.Ile2879Leu) c.8656A>C (p.Ile2886Leu) | dbSNP ExAC |
7 | g.21748704A>G | CA366955417 | DNAH11 | c.8635A>G (p.Ile2879Val) c.8656A>G (p.Ile2886Val) | |
7 | g.21748704A>T | CA366955419 | DNAH11 | c.8635A>T (p.Ile2879Phe) c.8656A>T (p.Ile2886Phe) | |
7 | g.21748705T>A | CA366955421 | DNAH11 | c.8636T>A (p.Ile2879Asn) c.8657T>A (p.Ile2886Asn) | |
7 | g.21748705T>C | CA366955423 | DNAH11 | c.8636T>C (p.Ile2879Thr) c.8657T>C (p.Ile2886Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748705T>G | CA366955425 | DNAH11 | c.8636T>G (p.Ile2879Ser) c.8657T>G (p.Ile2886Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748705T= | CA1693662133 | DNAH11 | c.8636T= (p.Ile2879=) c.8657T= (p.Ile2886=) | |
7 | g.21748706C>A | CA453968569 | DNAH11 | c.8637C>A (p.Ile2879=) c.8658C>A (p.Ile2886=) | |
7 | g.21748706C>G | CA366955427 | DNAH11 | c.8637C>G (p.Ile2879Met) c.8658C>G (p.Ile2886Met) | gnomAD v4 |
7 | g.21748706C>T | CA453968572 | DNAH11 | c.8637C>T (p.Ile2879=) c.8658C>T (p.Ile2886=) | |
7 | g.21748707A= | CA1693662134 | DNAH11 | c.8638A= (p.Thr2880=) c.8659A= (p.Thr2887=) | |
7 | g.21748707A>C | CA366955428 | DNAH11 | c.8638A>C (p.Thr2880Pro) c.8659A>C (p.Thr2887Pro) | |
7 | g.21748707A>G | CA4181663 | DNAH11 | c.8638A>G (p.Thr2880Ala) c.8659A>G (p.Thr2887Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21748707A>T | CA155121366 | DNAH11 | c.8638A>T (p.Thr2880Ser) c.8659A>T (p.Thr2887Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748708C>A | CA366955431 | DNAH11 | c.8639C>A (p.Thr2880Asn) c.8660C>A (p.Thr2887Asn) | |
7 | g.21748708C= | CA1693662135 | DNAH11 | c.8639C= (p.Thr2880=) c.8660C= (p.Thr2887=) | |
7 | g.21748708C>G | CA366955433 | DNAH11 | c.8639C>G (p.Thr2880Ser) c.8660C>G (p.Thr2887Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748708C>T | CA366955434 | DNAH11 | c.8639C>T (p.Thr2880Ile) c.8660C>T (p.Thr2887Ile) | |
7 | g.21748709T>A | CA453968574 | DNAH11 | c.8640T>A (p.Thr2880=) c.8661T>A (p.Thr2887=) | |
7 | g.21748709T>C | CA453968575 | DNAH11 | c.8640T>C (p.Thr2880=) c.8661T>C (p.Thr2887=) | ClinVar |
7 | g.21748709T>G | CA453968577 | DNAH11 | c.8640T>G (p.Thr2880=) c.8661T>G (p.Thr2887=) | |
7 | g.21748710C>A | CA366955437 | DNAH11 | c.8641C>A (p.Leu2881Met) c.8662C>A (p.Leu2888Met) | |
7 | g.21748710C= | CA1693662136 | DNAH11 | c.8641C= (p.Leu2881=) c.8662C= (p.Leu2888=) | |
7 | g.21748710C>G | CA366955439 | DNAH11 | c.8641C>G (p.Leu2881Val) c.8662C>G (p.Leu2888Val) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.21748710C>T | CA453968579 | DNAH11 | c.8641C>T (p.Leu2881=) c.8662C>T (p.Leu2888=) | |
7 | g.21748711T>A | CA366955442 | DNAH11 | c.8642T>A (p.Leu2881Gln) c.8663T>A (p.Leu2888Gln) | |
7 | g.21748711T>C | CA366955444 | DNAH11 | c.8642T>C (p.Leu2881Pro) c.8663T>C (p.Leu2888Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748711T>G | CA366955446 | DNAH11 | c.8642T>G (p.Leu2881Arg) c.8663T>G (p.Leu2888Arg) | |
7 | g.21748711T= | CA1693662137 | DNAH11 | c.8642T= (p.Leu2881=) c.8663T= (p.Leu2888=) | |
7 | g.21748712G>A | CA453968581 | DNAH11 | c.8643G>A (p.Leu2881=) c.8664G>A (p.Leu2888=) | |
7 | g.21748712G>C | CA453968584 | DNAH11 | c.8643G>C (p.Leu2881=) c.8664G>C (p.Leu2888=) | ClinVar dbSNP gnomAD v4 |
7 | g.21748712G= | CA1693662138 | DNAH11 | c.8643G= (p.Leu2881=) c.8664G= (p.Leu2888=) | |
7 | g.21748712G>T | CA453968582 | DNAH11 | c.8643G>T (p.Leu2881=) c.8664G>T (p.Leu2888=) | |
7 | g.21748713A>C | CA366955449 | DNAH11 | c.8644A>C (p.Thr2882Pro) c.8665A>C (p.Thr2889Pro) | |
7 | g.21748713A>G | CA366955451 | DNAH11 | c.8644A>G (p.Thr2882Ala) c.8665A>G (p.Thr2889Ala) | gnomAD v4 |
7 | g.21748713A>T | CA366955453 | DNAH11 | c.8644A>T (p.Thr2882Ser) c.8665A>T (p.Thr2889Ser) | |
7 | g.21748714C>A | CA366955456 | DNAH11 | c.8645C>A (p.Thr2882Asn) c.8666C>A (p.Thr2889Asn) | ClinVar dbSNP gnomAD v2 |
7 | g.21748714C= | CA1693662139 | DNAH11 | c.8645C= (p.Thr2882=) c.8666C= (p.Thr2889=) | |
7 | g.21748714C>G | CA366955458 | DNAH11 | c.8645C>G (p.Thr2882Ser) c.8666C>G (p.Thr2889Ser) | |
7 | g.21748714C>T | CA366955459 | DNAH11 | c.8645C>T (p.Thr2882Ile) c.8666C>T (p.Thr2889Ile) | |
7 | g.21748715dup | CA2681987057 | DNAH11 | c.8646dup (p.Glu2883ArgfsTer?) c.8667dup (p.Glu2890ArgfsTer?) | gnomAD v4 |
7 | g.21748715C>A | CA453968588 | DNAH11 | c.8646C>A (p.Thr2882=) c.8667C>A (p.Thr2889=) | ClinVar |
7 | g.21748715C= | CA1693662140 | DNAH11 | c.8646C= (p.Thr2882=) c.8667C= (p.Thr2889=) | |
7 | g.21748715C>G | CA453968587 | DNAH11 | c.8646C>G (p.Thr2882=) c.8667C>G (p.Thr2889=) | |
7 | g.21748715C>T | CA453968586 | DNAH11 | c.8646C>T (p.Thr2882=) c.8667C>T (p.Thr2889=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748716G>A | CA4181664 | DNAH11 | c.8647G>A (p.Glu2883Lys) c.8668G>A (p.Glu2890Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748716G>C | CA366955462 | DNAH11 | c.8647G>C (p.Glu2883Gln) c.8668G>C (p.Glu2890Gln) | |
7 | g.21748716G= | CA1693662141 | DNAH11 | c.8647G= (p.Glu2883=) c.8668G= (p.Glu2890=) | |
7 | g.21748716G>T | CA366955464 | DNAH11 | c.8647G>T (p.Glu2883Ter) c.8668G>T (p.Glu2890Ter) | |
7 | g.21748717A>C | CA366955469 | DNAH11 | c.8648A>C (p.Glu2883Ala) c.8669A>C (p.Glu2890Ala) | |
7 | g.21748717A>G | CA366955468 | DNAH11 | c.8648A>G (p.Glu2883Gly) c.8669A>G (p.Glu2890Gly) | gnomAD v4 |
7 | g.21748717A>T | CA366955467 | DNAH11 | c.8648A>T (p.Glu2883Val) c.8669A>T (p.Glu2890Val) | |
7 | g.21748718G>A | CA453968592 | DNAH11 | c.8649G>A (p.Glu2883=) c.8670G>A (p.Glu2890=) | |
7 | g.21748718G>C | CA366955473 | DNAH11 | c.8649G>C (p.Glu2883Asp) c.8670G>C (p.Glu2890Asp) | |
7 | g.21748718G>T | CA366955472 | DNAH11 | c.8649G>T (p.Glu2883Asp) c.8670G>T (p.Glu2890Asp) | |
7 | g.21748719G>A | CA366955477 | DNAH11 | c.8650G>A (p.Gly2884Ser) c.8671G>A (p.Gly2891Ser) | gnomAD v4 |
7 | g.21748719G>C | CA366955478 | DNAH11 | c.8650G>C (p.Gly2884Arg) c.8671G>C (p.Gly2891Arg) | |
7 | g.21748719G>T | CA366955479 | DNAH11 | c.8650G>T (p.Gly2884Cys) c.8671G>T (p.Gly2891Cys) | |
7 | g.21748720G>A | CA366955482 | DNAH11 | c.8651G>A (p.Gly2884Asp) c.8672G>A (p.Gly2891Asp) | |
7 | g.21748720G>C | CA366955484 | DNAH11 | c.8651G>C (p.Gly2884Ala) c.8672G>C (p.Gly2891Ala) | gnomAD v4 |
7 | g.21748720G= | CA1693662142 | DNAH11 | c.8651G= (p.Gly2884=) c.8672G= (p.Gly2891=) | |
7 | g.21748720G>T | CA366955486 | DNAH11 | c.8651G>T (p.Gly2884Val) c.8672G>T (p.Gly2891Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748721C>A | CA453968596 | DNAH11 | c.8652C>A (p.Gly2884=) c.8673C>A (p.Gly2891=) | gnomAD v4 |
7 | g.21748721C>G | CA453968597 | DNAH11 | c.8652C>G (p.Gly2884=) c.8673C>G (p.Gly2891=) | |
7 | g.21748721C>T | CA453968598 | DNAH11 | c.8652C>T (p.Gly2884=) c.8673C>T (p.Gly2891=) | ClinVar gnomAD v4 |
7 | g.21748722T>A | CA366955489 | DNAH11 | c.8653T>A (p.Tyr2885Asn) c.8674T>A (p.Tyr2892Asn) | gnomAD v4 |
7 | g.21748722T>C | CA366955491 | DNAH11 | c.8653T>C (p.Tyr2885His) c.8674T>C (p.Tyr2892His) | ClinVar gnomAD v4 |
7 | g.21748722T>G | CA366955493 | DNAH11 | c.8653T>G (p.Tyr2885Asp) c.8674T>G (p.Tyr2892Asp) | |
7 | g.21748723A= | CA1693662143 | DNAH11 | c.8654A= (p.Tyr2885=) c.8675A= (p.Tyr2892=) | |
7 | g.21748723A>C | CA366955495 | DNAH11 | c.8654A>C (p.Tyr2885Ser) c.8675A>C (p.Tyr2892Ser) | |
7 | g.21748723A>G | CA4181665 | DNAH11 | c.8654A>G (p.Tyr2885Cys) c.8675A>G (p.Tyr2892Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21748723A>T | CA366955499 | DNAH11 | c.8654A>T (p.Tyr2885Phe) c.8675A>T (p.Tyr2892Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748724T>A | CA366955504 | DNAH11 | c.8655T>A (p.Tyr2885Ter) c.8676T>A (p.Tyr2892Ter) | |
7 | g.21748724T>C | CA453968601 | DNAH11 | c.8655T>C (p.Tyr2885=) c.8676T>C (p.Tyr2892=) | |
7 | g.21748724T>G | CA366955502 | DNAH11 | c.8655T>G (p.Tyr2885Ter) c.8676T>G (p.Tyr2892Ter) | |
7 | g.21748725G>A | CA366955506 | DNAH11 | c.8656G>A (p.Gly2886Arg) c.8677G>A (p.Gly2893Arg) | |
7 | g.21748725G>C | CA366955507 | DNAH11 | c.8656G>C (p.Gly2886Arg) c.8677G>C (p.Gly2893Arg) | |
7 | g.21748725G>T | CA366955509 | DNAH11 | c.8656G>T (p.Gly2886Ter) c.8677G>T (p.Gly2893Ter) | |
7 | g.21748726G>A | CA366955512 | DNAH11 | c.8657G>A (p.Gly2886Glu) c.8678G>A (p.Gly2893Glu) | dbSNP |
7 | g.21748726G>C | CA366955514 | DNAH11 | c.8657G>C (p.Gly2886Ala) c.8678G>C (p.Gly2893Ala) | |
7 | g.21748726G= | CA1693662144 | DNAH11 | c.8657G= (p.Gly2886=) c.8678G= (p.Gly2893=) | |
7 | g.21748726G>T | CA366955516 | DNAH11 | c.8657G>T (p.Gly2886Val) c.8678G>T (p.Gly2893Val) | |
7 | g.21748727A= | CA1693662145 | DNAH11 | c.8658A= (p.Gly2886=) c.8679A= (p.Gly2893=) | |
7 | g.21748727A>C | CA453968605 | DNAH11 | c.8658A>C (p.Gly2886=) c.8679A>C (p.Gly2893=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748727A>G | CA453968613 | DNAH11 | c.8658A>G (p.Gly2886=) c.8679A>G (p.Gly2893=) | gnomAD v4 |
7 | g.21748727A>T | CA453968614 | DNAH11 | c.8658A>T (p.Gly2886=) c.8679A>T (p.Gly2893=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748728A>C | CA366955519 | DNAH11 | c.8659A>C (p.Ile2887Leu) c.8680A>C (p.Ile2894Leu) | |
7 | g.21748728A>G | CA366955520 | DNAH11 | c.8659A>G (p.Ile2887Val) c.8680A>G (p.Ile2894Val) | gnomAD v4 |
7 | g.21748728A>T | CA366955522 | DNAH11 | c.8659A>T (p.Ile2887Phe) c.8680A>T (p.Ile2894Phe) | |
7 | g.21748729T>A | CA366955525 | DNAH11 | c.8660T>A (p.Ile2887Asn) c.8681T>A (p.Ile2894Asn) | |
7 | g.21748729T>C | CA366955526 | DNAH11 | c.8660T>C (p.Ile2887Thr) c.8681T>C (p.Ile2894Thr) | |
7 | g.21748729T>G | CA366955528 | DNAH11 | c.8660T>G (p.Ile2887Ser) c.8681T>G (p.Ile2894Ser) | |
7 | g.21748730C>A | CA453968617 | DNAH11 | c.8661C>A (p.Ile2887=) c.8682C>A (p.Ile2894=) | |
7 | g.21748730C= | CA1693662146 | DNAH11 | c.8661C= (p.Ile2887=) c.8682C= (p.Ile2894=) | |
7 | g.21748730C>G | CA366955531 | DNAH11 | c.8661C>G (p.Ile2887Met) c.8682C>G (p.Ile2894Met) | gnomAD v4 |
7 | g.21748730C>T | CA155121372 | DNAH11 | c.8661C>T (p.Ile2887=) c.8682C>T (p.Ile2894=) | dbSNP gnomAD v4 |
7 | g.21748731C>A | CA366955535 | DNAH11 | c.8662C>A (p.Gln2888Lys) c.8683C>A (p.Gln2895Lys) | |
7 | g.21748731C= | CA1693662147 | DNAH11 | c.8662C= (p.Gln2888=) c.8683C= (p.Gln2895=) | |
7 | g.21748731C>G | CA366955537 | DNAH11 | c.8662C>G (p.Gln2888Glu) c.8683C>G (p.Gln2895Glu) | |
7 | g.21748731C>T | CA155121383 | DNAH11 | c.8662C>T (p.Gln2888Ter) c.8683C>T (p.Gln2895Ter) | dbSNP COSMIC COSMIC |
7 | g.21748732A= | CA1693662148 | DNAH11 | c.8663A= (p.Gln2888=) c.8684A= (p.Gln2895=) | |
7 | g.21748732A>C | CA366955540 | DNAH11 | c.8663A>C (p.Gln2888Pro) c.8684A>C (p.Gln2895Pro) | |
7 | g.21748732A>G | CA4181666 | DNAH11 | c.8663A>G (p.Gln2888Arg) c.8684A>G (p.Gln2895Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748732A>T | CA366955542 | DNAH11 | c.8663A>T (p.Gln2888Leu) c.8684A>T (p.Gln2895Leu) | |
7 | g.21748733G>A | CA453968619 | DNAH11 | c.8664G>A (p.Gln2888=) c.8685G>A (p.Gln2895=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748733G>C | CA366955545 | DNAH11 | c.8664G>C (p.Gln2888His) c.8685G>C (p.Gln2895His) | |
7 | g.21748733G= | CA1693662149 | DNAH11 | c.8664G= (p.Gln2888=) c.8685G= (p.Gln2895=) | |
7 | g.21748733G>T | CA366955547 | DNAH11 | c.8664G>T (p.Gln2888His) c.8685G>T (p.Gln2895His) | |
7 | g.21748734G>A | CA155121388 | DNAH11 | c.8665G>A (p.Glu2889Lys) c.8686G>A (p.Glu2896Lys) | dbSNP gnomAD v4 |
7 | g.21748734G>C | CA366955551 | DNAH11 | c.8665G>C (p.Glu2889Gln) c.8686G>C (p.Glu2896Gln) | gnomAD v4 |
7 | g.21748734G= | CA1693662150 | DNAH11 | c.8665G= (p.Glu2889=) c.8686G= (p.Glu2896=) | |
7 | g.21748734G>T | CA366955553 | DNAH11 | c.8665G>T (p.Glu2889Ter) c.8686G>T (p.Glu2896Ter) | |
7 | g.21748735A= | CA1693662151 | DNAH11 | c.8666A= (p.Glu2889=) c.8687A= (p.Glu2896=) | |
7 | g.21748735A>C | CA366955554 | DNAH11 | c.8666A>C (p.Glu2889Ala) c.8687A>C (p.Glu2896Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748735A>G | CA366955556 | DNAH11 | c.8666A>G (p.Glu2889Gly) c.8687A>G (p.Glu2896Gly) | |
7 | g.21748735A>T | CA366955558 | DNAH11 | c.8666A>T (p.Glu2889Val) c.8687A>T (p.Glu2896Val) | |
7 | g.21748736A= | CA1693662152 | DNAH11 | c.8667A= (p.Glu2889=) c.8688A= (p.Glu2896=) | |
7 | g.21748736A>C | CA366955561 | DNAH11 | c.8667A>C (p.Glu2889Asp) c.8688A>C (p.Glu2896Asp) | |
7 | g.21748736A>G | CA453968621 | DNAH11 | c.8667A>G (p.Glu2889=) c.8688A>G (p.Glu2896=) | dbSNP |
7 | g.21748736A>T | CA366955563 | DNAH11 | c.8667A>T (p.Glu2889Asp) c.8688A>T (p.Glu2896Asp) | |
7 | g.21748737C>A | CA366955567 | DNAH11 | c.8668C>A (p.Leu2890Ile) c.8689C>A (p.Leu2897Ile) | |
7 | g.21748737C>G | CA366955569 | DNAH11 | c.8668C>G (p.Leu2890Val) c.8689C>G (p.Leu2897Val) | |
7 | g.21748737C>T | CA366955571 | DNAH11 | c.8668C>T (p.Leu2890Phe) c.8689C>T (p.Leu2897Phe) | gnomAD v4 |
7 | g.21748738T>A | CA366955578 | DNAH11 | c.8669T>A (p.Leu2890His) c.8690T>A (p.Leu2897His) | |
7 | g.21748738T>C | CA366955576 | DNAH11 | c.8669T>C (p.Leu2890Pro) c.8690T>C (p.Leu2897Pro) | |
7 | g.21748738T>G | CA366955574 | DNAH11 | c.8669T>G (p.Leu2890Arg) c.8690T>G (p.Leu2897Arg) | COSMIC COSMIC |
7 | g.21748739T>A | CA453968625 | DNAH11 | c.8670T>A (p.Leu2890=) c.8691T>A (p.Leu2897=) | |
7 | g.21748739T>C | CA453968627 | DNAH11 | c.8670T>C (p.Leu2890=) c.8691T>C (p.Leu2897=) | |
7 | g.21748739T>G | CA453968626 | DNAH11 | c.8670T>G (p.Leu2890=) c.8691T>G (p.Leu2897=) | |
7 | g.21748740del | CA2695207510 | DNAH11 | c.8671del (p.Arg2891GlyfsTer2) c.8692del (p.Arg2898GlyfsTer2) | |
7 | g.21748740C>A | CA453968628 | DNAH11 | c.8671C>A (p.Arg2891=) c.8692C>A (p.Arg2898=) | dbSNP |
7 | g.21748740C= | CA1693662153 | DNAH11 | c.8671C= (p.Arg2891=) c.8692C= (p.Arg2898=) | |
7 | g.21748740C>G | CA366955580 | DNAH11 | c.8671C>G (p.Arg2891Gly) c.8692C>G (p.Arg2898Gly) | dbSNP |
7 | g.21748740C>T | CA4181667 | DNAH11 | c.8671C>T (p.Arg2891Trp) c.8692C>T (p.Arg2898Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21748741G>A | CA366955585 | DNAH11 | c.8672G>A (p.Arg2891Gln) c.8693G>A (p.Arg2898Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748741G>C | CA366955587 | DNAH11 | c.8672G>C (p.Arg2891Pro) c.8693G>C (p.Arg2898Pro) | |
7 | g.21748741G= | CA1693662154 | DNAH11 | c.8672G= (p.Arg2891=) c.8693G= (p.Arg2898=) | |
7 | g.21748741G>T | CA366955589 | DNAH11 | c.8672G>T (p.Arg2891Leu) c.8693G>T (p.Arg2898Leu) | |
7 | g.21748742G>A | CA453968631 | DNAH11 | c.8673G>A (p.Arg2891=) c.8694G>A (p.Arg2898=) | |
7 | g.21748742G>C | CA453968632 | DNAH11 | c.8673G>C (p.Arg2891=) c.8694G>C (p.Arg2898=) | |
7 | g.21748742G>T | CA453968633 | DNAH11 | c.8673G>T (p.Arg2891=) c.8694G>T (p.Arg2898=) | |
7 | g.21748743G>A | CA16612339 | DNAH11 | c.8673+1G>A (n.8673+1G>A) c.8694+1G>A (n.8694+1G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.21748743G>C | CA366955593 | DNAH11 | c.8673+1G>C (n.8673+1G>C) c.8694+1G>C (n.8694+1G>C) | |
7 | g.21748743G= | CA1693662155 | DNAH11 | c.8673+1G= (n.8673+1G=) c.8694+1G= (n.8694+1G=) | |
7 | g.21748743G>T | CA366955594 | DNAH11 | c.8673+1G>T (n.8673+1G>T) c.8694+1G>T (n.8694+1G>T) | |
7 | g.21748744T>A | CA366955595 | DNAH11 | c.8673+2T>A (n.8673+2T>A) c.8694+2T>A (n.8694+2T>A) | |
7 | g.21748744T>C | CA366955597 | DNAH11 | c.8673+2T>C (n.8673+2T>C) c.8694+2T>C (n.8694+2T>C) | |
7 | g.21748744T>G | CA366955598 | DNAH11 | c.8673+2T>G (n.8673+2T>G) c.8694+2T>G (n.8694+2T>G) | |
7 | g.21748747G>C | CA2681987058 | DNAH11 | c.8673+5G>C (n.8673+5G>C) c.8694+5G>C (n.8694+5G>C) | gnomAD v4 |
7 | g.21748749C>A | CA2681987059 | DNAH11 | c.8673+7C>A (n.8673+7C>A) c.8694+7C>A (n.8694+7C>A) | gnomAD v4 |
7 | g.21748749C= | CA1693662156 | DNAH11 | c.8673+7C= (n.8673+7C=) c.8694+7C= (n.8694+7C=) | |
7 | g.21748749C>G | CA836670411 | DNAH11 | c.8673+7C>G (n.8673+7C>G) c.8694+7C>G (n.8694+7C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21748751A= | CA1693662157 | DNAH11 | c.8673+9A= (n.8673+9A=) c.8694+9A= (n.8694+9A=) | |
7 | g.21748751A>C | CA2681987060 | DNAH11 | c.8673+9A>C (n.8673+9A>C) c.8694+9A>C (n.8694+9A>C) | gnomAD v4 |
7 | g.21748751A>G | CA573292821 | DNAH11 | c.8673+9A>G (n.8673+9A>G) c.8694+9A>G (n.8694+9A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21748751A>T | CA645547859 | DNAH11 | c.8673+9A>T (n.8673+9A>T) c.8694+9A>T (n.8694+9A>T) | COSMIC COSMIC |
7 | g.21748751_21748752delinsAG | CA1693662158 | DNAH11 | c.8673+9_8673+10delinsAG (n.8673+9_8673+10delinsAG) c.8694+9_8694+10delinsAG (n.8694+9_8694+10delinsAG) |