UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.91297995A= | CA1863721479 | AUH | c.587T= (p.Ile196=) c.500T= (p.Ile167=) n.747T= c.617T= (p.Ile206=) c.125T= (p.Ile42=) c.530T= (p.Ile177=) c.263T= (p.Ile88=) c.260T= (p.Ile87=) n.670T= n.622T= | |
| 9 | g.91297995A>C | CA373836852 | AUH | c.587T>G (p.Ile196Arg) c.500T>G (p.Ile167Arg) n.747T>G c.617T>G (p.Ile206Arg) c.125T>G (p.Ile42Arg) c.530T>G (p.Ile177Arg) c.263T>G (p.Ile88Arg) c.260T>G (p.Ile87Arg) n.670T>G n.622T>G | |
| 9 | g.91297995A>G | CA5119816 | AUH | c.587T>C (p.Ile196Thr) c.500T>C (p.Ile167Thr) n.747T>C c.617T>C (p.Ile206Thr) c.125T>C (p.Ile42Thr) c.530T>C (p.Ile177Thr) c.263T>C (p.Ile88Thr) c.260T>C (p.Ile87Thr) n.670T>C n.622T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91297995A>T | CA373836853 | AUH | c.587T>A (p.Ile196Lys) c.500T>A (p.Ile167Lys) n.747T>A c.617T>A (p.Ile206Lys) c.125T>A (p.Ile42Lys) c.530T>A (p.Ile177Lys) c.263T>A (p.Ile88Lys) c.260T>A (p.Ile87Lys) n.670T>A n.622T>A | |
| 9 | g.91297996T>A | CA373836854 | AUH | c.586A>T (p.Ile196Leu) c.499A>T (p.Ile167Leu) n.746A>T c.616A>T (p.Ile206Leu) c.124A>T (p.Ile42Leu) c.529A>T (p.Ile177Leu) c.262A>T (p.Ile88Leu) c.259A>T (p.Ile87Leu) n.669A>T n.621A>T | |
| 9 | g.91297996T>C | CA373836855 | AUH | c.586A>G (p.Ile196Val) c.499A>G (p.Ile167Val) n.746A>G c.616A>G (p.Ile206Val) c.124A>G (p.Ile42Val) c.529A>G (p.Ile177Val) c.262A>G (p.Ile88Val) c.259A>G (p.Ile87Val) n.669A>G n.621A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91297996T>G | CA373836856 | AUH | c.586A>C (p.Ile196Leu) c.499A>C (p.Ile167Leu) n.746A>C c.616A>C (p.Ile206Leu) c.124A>C (p.Ile42Leu) c.529A>C (p.Ile177Leu) c.262A>C (p.Ile88Leu) c.259A>C (p.Ile87Leu) n.669A>C n.621A>C | |
| 9 | g.91297996T= | CA1863721480 | AUH | c.586A= (p.Ile196=) c.499A= (p.Ile167=) n.746A= c.616A= (p.Ile206=) c.124A= (p.Ile42=) c.529A= (p.Ile177=) c.262A= (p.Ile88=) c.259A= (p.Ile87=) n.669A= n.621A= | |
| 9 | g.91297997A>C | CA373836857 | AUH | c.585T>G (p.Asp195Glu) c.498T>G (p.Asp166Glu) n.745T>G c.615T>G (p.Asp205Glu) c.123T>G (p.Asp41Glu) c.528T>G (p.Asp176Glu) c.261T>G (p.Asp87Glu) c.258T>G (p.Asp86Glu) n.668T>G n.620T>G | |
| 9 | g.91297997A>G | CA466223308 | AUH | c.585T>C (p.Asp195=) c.498T>C (p.Asp166=) n.745T>C c.615T>C (p.Asp205=) c.123T>C (p.Asp41=) c.528T>C (p.Asp176=) c.261T>C (p.Asp87=) c.258T>C (p.Asp86=) n.668T>C n.620T>C | gnomAD v4 |
| 9 | g.91297997A>T | CA373836858 | AUH | c.585T>A (p.Asp195Glu) c.498T>A (p.Asp166Glu) n.745T>A c.615T>A (p.Asp205Glu) c.123T>A (p.Asp41Glu) c.528T>A (p.Asp176Glu) c.261T>A (p.Asp87Glu) c.258T>A (p.Asp86Glu) n.668T>A n.620T>A | |
| 9 | g.91297998T>A | CA373836860 | AUH | c.584A>T (p.Asp195Val) c.497A>T (p.Asp166Val) n.744A>T c.614A>T (p.Asp205Val) c.122A>T (p.Asp41Val) c.527A>T (p.Asp176Val) c.260A>T (p.Asp87Val) c.257A>T (p.Asp86Val) n.667A>T n.619A>T | |
| 9 | g.91297998T>C | CA373836861 | AUH | c.584A>G (p.Asp195Gly) c.497A>G (p.Asp166Gly) n.744A>G c.614A>G (p.Asp205Gly) c.122A>G (p.Asp41Gly) c.527A>G (p.Asp176Gly) c.260A>G (p.Asp87Gly) c.257A>G (p.Asp86Gly) n.667A>G n.619A>G | gnomAD v4 |
| 9 | g.91297998T>G | CA373836859 | AUH | c.584A>C (p.Asp195Ala) c.497A>C (p.Asp166Ala) n.744A>C c.614A>C (p.Asp205Ala) c.122A>C (p.Asp41Ala) c.527A>C (p.Asp176Ala) c.260A>C (p.Asp87Ala) c.257A>C (p.Asp86Ala) n.667A>C n.619A>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.91297998T= | CA1863721481 | AUH | c.584A= (p.Asp195=) c.497A= (p.Asp166=) n.744A= c.614A= (p.Asp205=) c.122A= (p.Asp41=) c.527A= (p.Asp176=) c.260A= (p.Asp87=) c.257A= (p.Asp86=) n.667A= n.619A= | |
| 9 | g.91297999C>A | CA373836863 | AUH | c.583G>T (p.Asp195Tyr) c.496G>T (p.Asp166Tyr) n.743G>T c.613G>T (p.Asp205Tyr) c.121G>T (p.Asp41Tyr) c.526G>T (p.Asp176Tyr) c.259G>T (p.Asp87Tyr) c.256G>T (p.Asp86Tyr) n.666G>T n.618G>T | dbSNP |
| 9 | g.91297999C= | CA1863721482 | AUH | c.583G= (p.Asp195=) c.496G= (p.Asp166=) n.743G= c.613G= (p.Asp205=) c.121G= (p.Asp41=) c.526G= (p.Asp176=) c.259G= (p.Asp87=) c.256G= (p.Asp86=) n.666G= n.618G= | |
| 9 | g.91297999C>G | CA373836862 | AUH | c.583G>C (p.Asp195His) c.496G>C (p.Asp166His) n.743G>C c.613G>C (p.Asp205His) c.121G>C (p.Asp41His) c.526G>C (p.Asp176His) c.259G>C (p.Asp87His) c.256G>C (p.Asp86His) n.666G>C n.618G>C | |
| 9 | g.91297999C>T | CA195909175 | AUH | c.583G>A (p.Asp195Asn) c.496G>A (p.Asp166Asn) n.743G>A c.613G>A (p.Asp205Asn) c.121G>A (p.Asp41Asn) c.526G>A (p.Asp176Asn) c.259G>A (p.Asp87Asn) c.256G>A (p.Asp86Asn) n.666G>A n.618G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298000A>C | CA373836864 | AUH | c.582T>G (p.Cys194Trp) c.495T>G (p.Cys165Trp) n.742T>G c.612T>G (p.Cys204Trp) c.120T>G (p.Cys40Trp) c.525T>G (p.Cys175Trp) c.258T>G (p.Cys86Trp) c.255T>G (p.Cys85Trp) n.665T>G n.617T>G | |
| 9 | g.91298000A>G | CA466223317 | AUH | c.582T>C (p.Cys194=) c.495T>C (p.Cys165=) n.742T>C c.612T>C (p.Cys204=) c.120T>C (p.Cys40=) c.525T>C (p.Cys175=) c.258T>C (p.Cys86=) c.255T>C (p.Cys85=) n.665T>C n.617T>C | |
| 9 | g.91298000A>T | CA373836865 | AUH | c.582T>A (p.Cys194Ter) c.495T>A (p.Cys165Ter) n.742T>A c.612T>A (p.Cys204Ter) c.120T>A (p.Cys40Ter) c.525T>A (p.Cys175Ter) c.258T>A (p.Cys86Ter) c.255T>A (p.Cys85Ter) n.665T>A n.617T>A | |
| 9 | g.91298001C>A | CA373836866 | AUH | c.581G>T (p.Cys194Phe) c.494G>T (p.Cys165Phe) n.741G>T c.611G>T (p.Cys204Phe) c.119G>T (p.Cys40Phe) c.524G>T (p.Cys175Phe) c.257G>T (p.Cys86Phe) c.254G>T (p.Cys85Phe) n.664G>T n.616G>T | |
| 9 | g.91298001C>G | CA373836867 | AUH | c.581G>C (p.Cys194Ser) c.494G>C (p.Cys165Ser) n.741G>C c.611G>C (p.Cys204Ser) c.119G>C (p.Cys40Ser) c.524G>C (p.Cys175Ser) c.257G>C (p.Cys86Ser) c.254G>C (p.Cys85Ser) n.664G>C n.616G>C | |
| 9 | g.91298001C>T | CA373836868 | AUH | c.581G>A (p.Cys194Tyr) c.494G>A (p.Cys165Tyr) n.741G>A c.611G>A (p.Cys204Tyr) c.119G>A (p.Cys40Tyr) c.524G>A (p.Cys175Tyr) c.257G>A (p.Cys86Tyr) c.254G>A (p.Cys85Tyr) n.664G>A n.616G>A | gnomAD v4 |
| 9 | g.91298002A= | CA1863721483 | AUH | c.580T= (p.Cys194=) c.493T= (p.Cys165=) n.740T= c.610T= (p.Cys204=) c.118T= (p.Cys40=) c.523T= (p.Cys175=) c.256T= (p.Cys86=) c.253T= (p.Cys85=) n.663T= n.615T= | |
| 9 | g.91298002A>C | CA373836869 | AUH | c.580T>G (p.Cys194Gly) c.493T>G (p.Cys165Gly) n.740T>G c.610T>G (p.Cys204Gly) c.118T>G (p.Cys40Gly) c.523T>G (p.Cys175Gly) c.256T>G (p.Cys86Gly) c.253T>G (p.Cys85Gly) n.663T>G n.615T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298002A>G | CA373836870 | AUH | c.580T>C (p.Cys194Arg) c.493T>C (p.Cys165Arg) n.740T>C c.610T>C (p.Cys204Arg) c.118T>C (p.Cys40Arg) c.523T>C (p.Cys175Arg) c.256T>C (p.Cys86Arg) c.253T>C (p.Cys85Arg) n.663T>C n.615T>C | gnomAD v4 |
| 9 | g.91298002A>T | CA373836871 | AUH | c.580T>A (p.Cys194Ser) c.493T>A (p.Cys165Ser) n.740T>A c.610T>A (p.Cys204Ser) c.118T>A (p.Cys40Ser) c.523T>A (p.Cys175Ser) c.256T>A (p.Cys86Ser) c.253T>A (p.Cys85Ser) n.663T>A n.615T>A | |
| 9 | g.91298003G>A | CA5119817 | AUH | c.579C>T (p.Ala193=) c.492C>T (p.Ala164=) n.739C>T c.609C>T (p.Ala203=) c.117C>T (p.Ala39=) c.522C>T (p.Ala174=) c.255C>T (p.Ala85=) c.252C>T (p.Ala84=) n.662C>T n.614C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298003G>C | CA466223327 | AUH | c.579C>G (p.Ala193=) c.492C>G (p.Ala164=) n.739C>G c.609C>G (p.Ala203=) c.117C>G (p.Ala39=) c.522C>G (p.Ala174=) c.255C>G (p.Ala85=) c.252C>G (p.Ala84=) n.662C>G n.614C>G | |
| 9 | g.91298003G= | CA1863721484 | AUH | c.579C= (p.Ala193=) c.492C= (p.Ala164=) n.739C= c.609C= (p.Ala203=) c.117C= (p.Ala39=) c.522C= (p.Ala174=) c.255C= (p.Ala85=) c.252C= (p.Ala84=) n.662C= n.614C= | |
| 9 | g.91298003G>T | CA466223328 | AUH | c.579C>A (p.Ala193=) c.492C>A (p.Ala164=) n.739C>A c.609C>A (p.Ala203=) c.117C>A (p.Ala39=) c.522C>A (p.Ala174=) c.255C>A (p.Ala85=) c.252C>A (p.Ala84=) n.662C>A n.614C>A | |
| 9 | g.91298004G>A | CA373836872 | AUH | c.578C>T (p.Ala193Val) c.491C>T (p.Ala164Val) n.738C>T c.608C>T (p.Ala203Val) c.116C>T (p.Ala39Val) c.521C>T (p.Ala174Val) c.254C>T (p.Ala85Val) c.251C>T (p.Ala84Val) n.661C>T n.613C>T | ClinVar dbSNP |
| 9 | g.91298004G>C | CA373836873 | AUH | c.578C>G (p.Ala193Gly) c.491C>G (p.Ala164Gly) n.738C>G c.608C>G (p.Ala203Gly) c.116C>G (p.Ala39Gly) c.521C>G (p.Ala174Gly) c.254C>G (p.Ala85Gly) c.251C>G (p.Ala84Gly) n.661C>G n.613C>G | |
| 9 | g.91298004G>T | CA373836874 | AUH | c.578C>A (p.Ala193Asp) c.491C>A (p.Ala164Asp) n.738C>A c.608C>A (p.Ala203Asp) c.116C>A (p.Ala39Asp) c.521C>A (p.Ala174Asp) c.254C>A (p.Ala85Asp) c.251C>A (p.Ala84Asp) n.661C>A n.613C>A | |
| 9 | g.91298005C>A | CA195909177 | AUH | c.577G>T (p.Ala193Ser) c.490G>T (p.Ala164Ser) n.737G>T c.607G>T (p.Ala203Ser) c.115G>T (p.Ala39Ser) c.520G>T (p.Ala174Ser) c.253G>T (p.Ala85Ser) c.250G>T (p.Ala84Ser) n.660G>T n.612G>T | dbSNP |
| 9 | g.91298005C= | CA1863721485 | AUH | c.577G= (p.Ala193=) c.490G= (p.Ala164=) n.737G= c.607G= (p.Ala203=) c.115G= (p.Ala39=) c.520G= (p.Ala174=) c.253G= (p.Ala85=) c.250G= (p.Ala84=) n.660G= n.612G= | |
| 9 | g.91298005C>G | CA373836875 | AUH | c.577G>C (p.Ala193Pro) c.490G>C (p.Ala164Pro) n.737G>C c.607G>C (p.Ala203Pro) c.115G>C (p.Ala39Pro) c.520G>C (p.Ala174Pro) c.253G>C (p.Ala85Pro) c.250G>C (p.Ala84Pro) n.660G>C n.612G>C | |
| 9 | g.91298005C>T | CA373836876 | AUH | c.577G>A (p.Ala193Thr) c.490G>A (p.Ala164Thr) n.737G>A c.607G>A (p.Ala203Thr) c.115G>A (p.Ala39Thr) c.520G>A (p.Ala174Thr) c.253G>A (p.Ala85Thr) c.250G>A (p.Ala84Thr) n.660G>A n.612G>A | |
| 9 | g.91298006T>A | CA373836877 | AUH | c.576A>T (p.Leu192Phe) c.489A>T (p.Leu163Phe) n.736A>T c.606A>T (p.Leu202Phe) c.114A>T (p.Leu38Phe) c.519A>T (p.Leu173Phe) c.252A>T (p.Leu84Phe) c.249A>T (p.Leu83Phe) n.659A>T n.611A>T | |
| 9 | g.91298006T>C | CA466223340 | AUH | c.576A>G (p.Leu192=) c.489A>G (p.Leu163=) n.736A>G c.606A>G (p.Leu202=) c.114A>G (p.Leu38=) c.519A>G (p.Leu173=) c.252A>G (p.Leu84=) c.249A>G (p.Leu83=) n.659A>G n.611A>G | dbSNP |
| 9 | g.91298006T>G | CA373836878 | AUH | c.576A>C (p.Leu192Phe) c.489A>C (p.Leu163Phe) n.736A>C c.606A>C (p.Leu202Phe) c.114A>C (p.Leu38Phe) c.519A>C (p.Leu173Phe) c.252A>C (p.Leu84Phe) c.249A>C (p.Leu83Phe) n.659A>C n.611A>C | |
| 9 | g.91298006T= | CA1863721486 | AUH | c.576A= (p.Leu192=) c.489A= (p.Leu163=) n.736A= c.606A= (p.Leu202=) c.114A= (p.Leu38=) c.519A= (p.Leu173=) c.252A= (p.Leu84=) c.249A= (p.Leu83=) n.659A= n.611A= | |
| 9 | g.91298006_91298007del | CA2579377786 | AUH | c.575_576del (p.Leu192CysfsTer3) c.488_489del (p.Leu163CysfsTer3) n.735_736del c.605_606del (p.Leu202CysfsTer3) c.113_114del (p.Leu38CysfsTer3) c.518_519del (p.Leu173CysfsTer3) c.251_252del (p.Leu84CysfsTer3) c.248_249del (p.Leu83CysfsTer3) n.658_659del n.610_611del | |
| 9 | g.91298007A>C | CA373836879 | AUH | c.575T>G (p.Leu192Ter) c.488T>G (p.Leu163Ter) n.735T>G c.605T>G (p.Leu202Ter) c.113T>G (p.Leu38Ter) c.518T>G (p.Leu173Ter) c.251T>G (p.Leu84Ter) c.248T>G (p.Leu83Ter) n.658T>G n.610T>G | |
| 9 | g.91298007A>G | CA373836880 | AUH | c.575T>C (p.Leu192Ser) c.488T>C (p.Leu163Ser) n.735T>C c.605T>C (p.Leu202Ser) c.113T>C (p.Leu38Ser) c.518T>C (p.Leu173Ser) c.251T>C (p.Leu84Ser) c.248T>C (p.Leu83Ser) n.658T>C n.610T>C | |
| 9 | g.91298007A>T | CA373836881 | AUH | c.575T>A (p.Leu192Ter) c.488T>A (p.Leu163Ter) n.735T>A c.605T>A (p.Leu202Ter) c.113T>A (p.Leu38Ter) c.518T>A (p.Leu173Ter) c.251T>A (p.Leu84Ter) c.248T>A (p.Leu83Ter) n.658T>A n.610T>A | |
| 9 | g.91298009del | CA2690631042 | AUH | c.575del (p.Leu192Ter) c.488del (p.Leu163Ter) n.735del c.605del (p.Leu202Ter) c.113del (p.Leu38Ter) c.518del (p.Leu173Ter) c.251del (p.Leu84Ter) c.248del (p.Leu83Ter) n.658del n.610del | gnomAD v4 |
| 9 | g.91298008A= | CA1863721487 | AUH | c.574T= (p.Leu192=) c.487T= (p.Leu163=) n.734T= c.604T= (p.Leu202=) c.112T= (p.Leu38=) c.517T= (p.Leu173=) c.250T= (p.Leu84=) c.247T= (p.Leu83=) n.657T= n.609T= | |
| 9 | g.91298008A>C | CA373836882 | AUH | c.574T>G (p.Leu192Val) c.487T>G (p.Leu163Val) n.734T>G c.604T>G (p.Leu202Val) c.112T>G (p.Leu38Val) c.517T>G (p.Leu173Val) c.250T>G (p.Leu84Val) c.247T>G (p.Leu83Val) n.657T>G n.609T>G | dbSNP |
| 9 | g.91298008A>G | CA466223347 | AUH | c.574T>C (p.Leu192=) c.487T>C (p.Leu163=) n.734T>C c.604T>C (p.Leu202=) c.112T>C (p.Leu38=) c.517T>C (p.Leu173=) c.250T>C (p.Leu84=) c.247T>C (p.Leu83=) n.657T>C n.609T>C | |
| 9 | g.91298008A>T | CA373836883 | AUH | c.574T>A (p.Leu192Ile) c.487T>A (p.Leu163Ile) n.734T>A c.604T>A (p.Leu202Ile) c.112T>A (p.Leu38Ile) c.517T>A (p.Leu173Ile) c.250T>A (p.Leu84Ile) c.247T>A (p.Leu83Ile) n.657T>A n.609T>A | |
| 9 | g.91298009A= | CA1863721488 | AUH | c.573T= (p.Ala191=) c.486T= (p.Ala162=) n.733T= c.603T= (p.Ala201=) c.111T= (p.Ala37=) c.516T= (p.Ala172=) c.249T= (p.Ala83=) c.246T= (p.Ala82=) n.656T= n.608T= | |
| 9 | g.91298009A>C | CA466223350 | AUH | c.573T>G (p.Ala191=) c.486T>G (p.Ala162=) n.733T>G c.603T>G (p.Ala201=) c.111T>G (p.Ala37=) c.516T>G (p.Ala172=) c.249T>G (p.Ala83=) c.246T>G (p.Ala82=) n.656T>G n.608T>G | gnomAD v4 |
| 9 | g.91298009A>G | CA466223352 | AUH | c.573T>C (p.Ala191=) c.486T>C (p.Ala162=) n.733T>C c.603T>C (p.Ala201=) c.111T>C (p.Ala37=) c.516T>C (p.Ala172=) c.249T>C (p.Ala83=) c.246T>C (p.Ala82=) n.656T>C n.608T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298009A>T | CA5119818 | AUH | c.573T>A (p.Ala191=) c.486T>A (p.Ala162=) n.733T>A c.603T>A (p.Ala201=) c.111T>A (p.Ala37=) c.516T>A (p.Ala172=) c.249T>A (p.Ala83=) c.246T>A (p.Ala82=) n.656T>A n.608T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298010G>A | CA195909180 | AUH | c.572C>T (p.Ala191Val) c.485C>T (p.Ala162Val) n.732C>T c.602C>T (p.Ala201Val) c.110C>T (p.Ala37Val) c.515C>T (p.Ala172Val) c.248C>T (p.Ala83Val) c.245C>T (p.Ala82Val) n.655C>T n.607C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91298010G>C | CA373836884 | AUH | c.572C>G (p.Ala191Gly) c.485C>G (p.Ala162Gly) n.732C>G c.602C>G (p.Ala201Gly) c.110C>G (p.Ala37Gly) c.515C>G (p.Ala172Gly) c.248C>G (p.Ala83Gly) c.245C>G (p.Ala82Gly) n.655C>G n.607C>G | |
| 9 | g.91298010G= | CA1863721489 | AUH | c.572C= (p.Ala191=) c.485C= (p.Ala162=) n.732C= c.602C= (p.Ala201=) c.110C= (p.Ala37=) c.515C= (p.Ala172=) c.248C= (p.Ala83=) c.245C= (p.Ala82=) n.655C= n.607C= | |
| 9 | g.91298010G>T | CA373836885 | AUH | c.572C>A (p.Ala191Asp) c.485C>A (p.Ala162Asp) n.732C>A c.602C>A (p.Ala201Asp) c.110C>A (p.Ala37Asp) c.515C>A (p.Ala172Asp) c.248C>A (p.Ala83Asp) c.245C>A (p.Ala82Asp) n.655C>A n.607C>A | |
| 9 | g.91298011C>A | CA373836887 | AUH | c.571G>T (p.Ala191Ser) c.484G>T (p.Ala162Ser) n.731G>T c.601G>T (p.Ala201Ser) c.109G>T (p.Ala37Ser) c.514G>T (p.Ala172Ser) c.247G>T (p.Ala83Ser) c.244G>T (p.Ala82Ser) n.654G>T n.606G>T | |
| 9 | g.91298011C>G | CA373836888 | AUH | c.571G>C (p.Ala191Pro) c.484G>C (p.Ala162Pro) n.731G>C c.601G>C (p.Ala201Pro) c.109G>C (p.Ala37Pro) c.514G>C (p.Ala172Pro) c.247G>C (p.Ala83Pro) c.244G>C (p.Ala82Pro) n.654G>C n.606G>C | |
| 9 | g.91298011C>T | CA373836886 | AUH | c.571G>A (p.Ala191Thr) c.484G>A (p.Ala162Thr) n.731G>A c.601G>A (p.Ala201Thr) c.109G>A (p.Ala37Thr) c.514G>A (p.Ala172Thr) c.247G>A (p.Ala83Thr) c.244G>A (p.Ala82Thr) n.654G>A n.606G>A | |
| 9 | g.91298012C>A | CA466223358 | AUH | c.570G>T (p.Leu190=) c.483G>T (p.Leu161=) n.730G>T c.600G>T (p.Leu200=) c.108G>T (p.Leu36=) c.513G>T (p.Leu171=) c.246G>T (p.Leu82=) c.243G>T (p.Leu81=) n.653G>T n.605G>T | gnomAD v4 |
| 9 | g.91298012C= | CA1863721490 | AUH | c.570G= (p.Leu190=) c.483G= (p.Leu161=) n.730G= c.600G= (p.Leu200=) c.108G= (p.Leu36=) c.513G= (p.Leu171=) c.246G= (p.Leu82=) c.243G= (p.Leu81=) n.653G= n.605G= | |
| 9 | g.91298012C>G | CA466223360 | AUH | c.570G>C (p.Leu190=) c.483G>C (p.Leu161=) n.730G>C c.600G>C (p.Leu200=) c.108G>C (p.Leu36=) c.513G>C (p.Leu171=) c.246G>C (p.Leu82=) c.243G>C (p.Leu81=) n.653G>C n.605G>C | |
| 9 | g.91298012C>T | CA466223361 | AUH | c.570G>A (p.Leu190=) c.483G>A (p.Leu161=) n.730G>A c.600G>A (p.Leu200=) c.108G>A (p.Leu36=) c.513G>A (p.Leu171=) c.246G>A (p.Leu82=) c.243G>A (p.Leu81=) n.653G>A n.605G>A | dbSNP |
| 9 | g.91298013A>C | CA373836889 | AUH | c.569T>G (p.Leu190Arg) c.482T>G (p.Leu161Arg) n.729T>G c.599T>G (p.Leu200Arg) c.107T>G (p.Leu36Arg) c.512T>G (p.Leu171Arg) c.245T>G (p.Leu82Arg) c.242T>G (p.Leu81Arg) n.652T>G n.604T>G | |
| 9 | g.91298013A>G | CA373836890 | AUH | c.569T>C (p.Leu190Pro) c.482T>C (p.Leu161Pro) n.729T>C c.599T>C (p.Leu200Pro) c.107T>C (p.Leu36Pro) c.512T>C (p.Leu171Pro) c.245T>C (p.Leu82Pro) c.242T>C (p.Leu81Pro) n.652T>C n.604T>C | gnomAD v4 |
| 9 | g.91298013A>T | CA373836891 | AUH | c.569T>A (p.Leu190Gln) c.482T>A (p.Leu161Gln) n.729T>A c.599T>A (p.Leu200Gln) c.107T>A (p.Leu36Gln) c.512T>A (p.Leu171Gln) c.245T>A (p.Leu82Gln) c.242T>A (p.Leu81Gln) n.652T>A n.604T>A | |
| 9 | g.91298014G>A | CA466223366 | AUH | c.568C>T (p.Leu190=) c.481C>T (p.Leu161=) n.728C>T c.598C>T (p.Leu200=) c.106C>T (p.Leu36=) c.511C>T (p.Leu171=) c.244C>T (p.Leu82=) c.241C>T (p.Leu81=) n.651C>T n.603C>T | gnomAD v4 |
| 9 | g.91298014G>C | CA373836892 | AUH | c.568C>G (p.Leu190Val) c.481C>G (p.Leu161Val) n.728C>G c.598C>G (p.Leu200Val) c.106C>G (p.Leu36Val) c.511C>G (p.Leu171Val) c.244C>G (p.Leu82Val) c.241C>G (p.Leu81Val) n.651C>G n.603C>G | |
| 9 | g.91298014G>T | CA373836893 | AUH | c.568C>A (p.Leu190Met) c.481C>A (p.Leu161Met) n.728C>A c.598C>A (p.Leu200Met) c.106C>A (p.Leu36Met) c.511C>A (p.Leu171Met) c.244C>A (p.Leu82Met) c.241C>A (p.Leu81Met) n.651C>A n.603C>A | |
| 9 | g.91298015T>A | CA373836894 | AUH | c.567A>T (p.Glu189Asp) c.480A>T (p.Glu160Asp) n.727A>T c.597A>T (p.Glu199Asp) c.105A>T (p.Glu35Asp) c.510A>T (p.Glu170Asp) c.243A>T (p.Glu81Asp) c.240A>T (p.Glu80Asp) n.650A>T n.602A>T | |
| 9 | g.91298015T>C | CA466223369 | AUH | c.567A>G (p.Glu189=) c.480A>G (p.Glu160=) n.727A>G c.597A>G (p.Glu199=) c.105A>G (p.Glu35=) c.510A>G (p.Glu170=) c.243A>G (p.Glu81=) c.240A>G (p.Glu80=) n.650A>G n.602A>G | |
| 9 | g.91298015T>G | CA373836895 | AUH | c.567A>C (p.Glu189Asp) c.480A>C (p.Glu160Asp) n.727A>C c.597A>C (p.Glu199Asp) c.105A>C (p.Glu35Asp) c.510A>C (p.Glu170Asp) c.243A>C (p.Glu81Asp) c.240A>C (p.Glu80Asp) n.650A>C n.602A>C | |
| 9 | g.91298016T>A | CA373836896 | AUH | c.566A>T (p.Glu189Val) c.479A>T (p.Glu160Val) n.726A>T c.596A>T (p.Glu199Val) c.104A>T (p.Glu35Val) c.509A>T (p.Glu170Val) c.242A>T (p.Glu81Val) c.239A>T (p.Glu80Val) n.649A>T n.601A>T | |
| 9 | g.91298016T>C | CA373836897 | AUH | c.566A>G (p.Glu189Gly) c.479A>G (p.Glu160Gly) n.726A>G c.596A>G (p.Glu199Gly) c.104A>G (p.Glu35Gly) c.509A>G (p.Glu170Gly) c.242A>G (p.Glu81Gly) c.239A>G (p.Glu80Gly) n.649A>G n.601A>G | |
| 9 | g.91298016T>G | CA373836898 | AUH | c.566A>C (p.Glu189Ala) c.479A>C (p.Glu160Ala) n.726A>C c.596A>C (p.Glu199Ala) c.104A>C (p.Glu35Ala) c.509A>C (p.Glu170Ala) c.242A>C (p.Glu81Ala) c.239A>C (p.Glu80Ala) n.649A>C n.601A>C | |
| 9 | g.91298017C>A | CA373836899 | AUH | c.565G>T (p.Glu189Ter) c.478G>T (p.Glu160Ter) n.725G>T c.595G>T (p.Glu199Ter) c.103G>T (p.Glu35Ter) c.508G>T (p.Glu170Ter) c.241G>T (p.Glu81Ter) c.238G>T (p.Glu80Ter) n.648G>T n.600G>T | |
| 9 | g.91298017C>G | CA373836900 | AUH | c.565G>C (p.Glu189Gln) c.478G>C (p.Glu160Gln) n.725G>C c.595G>C (p.Glu199Gln) c.103G>C (p.Glu35Gln) c.508G>C (p.Glu170Gln) c.241G>C (p.Glu81Gln) c.238G>C (p.Glu80Gln) n.648G>C n.600G>C | |
| 9 | g.91298017C>T | CA373836901 | AUH | c.565G>A (p.Glu189Lys) c.478G>A (p.Glu160Lys) n.725G>A c.595G>A (p.Glu199Lys) c.103G>A (p.Glu35Lys) c.508G>A (p.Glu170Lys) c.241G>A (p.Glu81Lys) c.238G>A (p.Glu80Lys) n.648G>A n.600G>A | |
| 9 | g.91298018A>C | CA466223379 | AUH | c.564T>G (p.Leu188=) c.477T>G (p.Leu159=) n.724T>G c.594T>G (p.Leu198=) c.102T>G (p.Leu34=) c.507T>G (p.Leu169=) c.240T>G (p.Leu80=) c.237T>G (p.Leu79=) n.647T>G n.599T>G | |
| 9 | g.91298018A>G | CA466223380 | AUH | c.564T>C (p.Leu188=) c.477T>C (p.Leu159=) n.724T>C c.594T>C (p.Leu198=) c.102T>C (p.Leu34=) c.507T>C (p.Leu169=) c.240T>C (p.Leu80=) c.237T>C (p.Leu79=) n.647T>C n.599T>C | |
| 9 | g.91298018A>T | CA466223382 | AUH | c.564T>A (p.Leu188=) c.477T>A (p.Leu159=) n.724T>A c.594T>A (p.Leu198=) c.102T>A (p.Leu34=) c.507T>A (p.Leu169=) c.240T>A (p.Leu80=) c.237T>A (p.Leu79=) n.647T>A n.599T>A | |
| 9 | g.91298019A= | CA1863721491 | AUH | c.563T= (p.Leu188=) c.476T= (p.Leu159=) n.723T= c.593T= (p.Leu198=) c.101T= (p.Leu34=) c.506T= (p.Leu169=) c.239T= (p.Leu80=) c.236T= (p.Leu79=) n.646T= n.598T= | |
| 9 | g.91298019A>C | CA373836904 | AUH | c.563T>G (p.Leu188Arg) c.476T>G (p.Leu159Arg) n.723T>G c.593T>G (p.Leu198Arg) c.101T>G (p.Leu34Arg) c.506T>G (p.Leu169Arg) c.239T>G (p.Leu80Arg) c.236T>G (p.Leu79Arg) n.646T>G n.598T>G | |
| 9 | g.91298019A>G | CA373836903 | AUH | c.563T>C (p.Leu188Pro) c.476T>C (p.Leu159Pro) n.723T>C c.593T>C (p.Leu198Pro) c.101T>C (p.Leu34Pro) c.506T>C (p.Leu169Pro) c.239T>C (p.Leu80Pro) c.236T>C (p.Leu79Pro) n.646T>C n.598T>C | gnomAD v4 |
| 9 | g.91298019A>T | CA373836902 | AUH | c.563T>A (p.Leu188His) c.476T>A (p.Leu159His) n.723T>A c.593T>A (p.Leu198His) c.101T>A (p.Leu34His) c.506T>A (p.Leu169His) c.239T>A (p.Leu80His) c.236T>A (p.Leu79His) n.646T>A n.598T>A | |
| 9 | g.91298020G>A | CA373836905 | AUH | c.562C>T (p.Leu188Phe) c.475C>T (p.Leu159Phe) n.722C>T c.592C>T (p.Leu198Phe) c.100C>T (p.Leu34Phe) c.505C>T (p.Leu169Phe) c.238C>T (p.Leu80Phe) c.235C>T (p.Leu79Phe) n.645C>T n.597C>T | |
| 9 | g.91298020G>C | CA373836906 | AUH | c.562C>G (p.Leu188Val) c.475C>G (p.Leu159Val) n.722C>G c.592C>G (p.Leu198Val) c.100C>G (p.Leu34Val) c.505C>G (p.Leu169Val) c.238C>G (p.Leu80Val) c.235C>G (p.Leu79Val) n.645C>G n.597C>G | |
| 9 | g.91298020G>T | CA373836907 | AUH | c.562C>A (p.Leu188Ile) c.475C>A (p.Leu159Ile) n.722C>A c.592C>A (p.Leu198Ile) c.100C>A (p.Leu34Ile) c.505C>A (p.Leu169Ile) c.238C>A (p.Leu80Ile) c.235C>A (p.Leu79Ile) n.645C>A n.597C>A | |
| 9 | g.91298020dup | CA16618864 | AUH | c.562dup (p.Leu188ProfsTer2) c.475dup (p.Leu159ProfsTer2) n.722dup c.592dup (p.Leu198ProfsTer2) c.100dup (p.Leu34ProfsTer2) c.505dup (p.Leu169ProfsTer2) c.238dup (p.Leu80ProfsTer2) c.235dup (p.Leu79ProfsTer2) n.645dup n.597dup | ClinVar dbSNP gnomAD v4 |
| 9 | g.91298021A>C | CA466223392 | AUH | c.561T>G (p.Gly187=) c.474T>G (p.Gly158=) n.721T>G c.591T>G (p.Gly197=) c.99T>G (p.Gly33=) c.504T>G (p.Gly168=) c.237T>G (p.Gly79=) c.234T>G (p.Gly78=) n.644T>G n.596T>G | |
| 9 | g.91298021A>G | CA466223394 | AUH | c.561T>C (p.Gly187=) c.474T>C (p.Gly158=) n.721T>C c.591T>C (p.Gly197=) c.99T>C (p.Gly33=) c.504T>C (p.Gly168=) c.237T>C (p.Gly79=) c.234T>C (p.Gly78=) n.644T>C n.596T>C | |
| 9 | g.91298021A>T | CA466223396 | AUH | c.561T>A (p.Gly187=) c.474T>A (p.Gly158=) n.721T>A c.591T>A (p.Gly197=) c.99T>A (p.Gly33=) c.504T>A (p.Gly168=) c.237T>A (p.Gly79=) c.234T>A (p.Gly78=) n.644T>A n.596T>A | gnomAD v4 |
| 9 | g.91298022C>A | CA373836908 | AUH | c.560G>T (p.Gly187Val) c.473G>T (p.Gly158Val) n.720G>T c.590G>T (p.Gly197Val) c.98G>T (p.Gly33Val) c.503G>T (p.Gly168Val) c.236G>T (p.Gly79Val) c.233G>T (p.Gly78Val) n.643G>T n.595G>T | gnomAD v4 |
| 9 | g.91298022C= | CA1863721492 | AUH | c.560G= (p.Gly187=) c.473G= (p.Gly158=) n.720G= c.590G= (p.Gly197=) c.98G= (p.Gly33=) c.503G= (p.Gly168=) c.236G= (p.Gly79=) c.233G= (p.Gly78=) n.643G= n.595G= | |
| 9 | g.91298022C>G | CA373836909 | AUH | c.560G>C (p.Gly187Ala) c.473G>C (p.Gly158Ala) n.720G>C c.590G>C (p.Gly197Ala) c.98G>C (p.Gly33Ala) c.503G>C (p.Gly168Ala) c.236G>C (p.Gly79Ala) c.233G>C (p.Gly78Ala) n.643G>C n.595G>C | |
| 9 | g.91298022C>T | CA5119819 | AUH | c.560G>A (p.Gly187Asp) c.473G>A (p.Gly158Asp) n.720G>A c.590G>A (p.Gly197Asp) c.98G>A (p.Gly33Asp) c.503G>A (p.Gly168Asp) c.236G>A (p.Gly79Asp) c.233G>A (p.Gly78Asp) n.643G>A n.595G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298023C>A | CA373836910 | AUH | c.559G>T (p.Gly187Cys) c.472G>T (p.Gly158Cys) n.719G>T c.589G>T (p.Gly197Cys) c.97G>T (p.Gly33Cys) c.502G>T (p.Gly168Cys) c.235G>T (p.Gly79Cys) c.232G>T (p.Gly78Cys) n.642G>T n.594G>T | |
| 9 | g.91298023C= | CA1863721493 | AUH | c.559G= (p.Gly187=) c.472G= (p.Gly158=) n.719G= c.589G= (p.Gly197=) c.97G= (p.Gly33=) c.502G= (p.Gly168=) c.235G= (p.Gly79=) c.232G= (p.Gly78=) n.642G= n.594G= | |
| 9 | g.91298023C>G | CA373836911 | AUH | c.559G>C (p.Gly187Arg) c.472G>C (p.Gly158Arg) n.719G>C c.589G>C (p.Gly197Arg) c.97G>C (p.Gly33Arg) c.502G>C (p.Gly168Arg) c.235G>C (p.Gly79Arg) c.232G>C (p.Gly78Arg) n.642G>C n.594G>C | gnomAD v4 |
| 9 | g.91298023C>T | CA128913 | AUH | c.559G>A (p.Gly187Ser) c.472G>A (p.Gly158Ser) n.719G>A c.589G>A (p.Gly197Ser) c.97G>A (p.Gly33Ser) c.502G>A (p.Gly168Ser) c.235G>A (p.Gly79Ser) c.232G>A (p.Gly78Ser) n.642G>A n.594G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298024A= | CA1863721494 | AUH | c.558T= (p.Gly186=) c.471T= (p.Gly157=) n.718T= c.588T= (p.Gly196=) c.96T= (p.Gly32=) c.501T= (p.Gly167=) c.234T= (p.Gly78=) c.231T= (p.Gly77=) n.641T= n.593T= | |
| 9 | g.91298024A>C | CA466223405 | AUH | c.558T>G (p.Gly186=) c.471T>G (p.Gly157=) n.718T>G c.588T>G (p.Gly196=) c.96T>G (p.Gly32=) c.501T>G (p.Gly167=) c.234T>G (p.Gly78=) c.231T>G (p.Gly77=) n.641T>G n.593T>G | |
| 9 | g.91298024A>G | CA466223407 | AUH | c.558T>C (p.Gly186=) c.471T>C (p.Gly157=) n.718T>C c.588T>C (p.Gly196=) c.96T>C (p.Gly32=) c.501T>C (p.Gly167=) c.234T>C (p.Gly78=) c.231T>C (p.Gly77=) n.641T>C n.593T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298024A>T | CA466223408 | AUH | c.558T>A (p.Gly186=) c.471T>A (p.Gly157=) n.718T>A c.588T>A (p.Gly196=) c.96T>A (p.Gly32=) c.501T>A (p.Gly167=) c.234T>A (p.Gly78=) c.231T>A (p.Gly77=) n.641T>A n.593T>A | |
| 9 | g.91298025C>A | CA373836912 | AUH | c.557G>T (p.Gly186Val) c.470G>T (p.Gly157Val) n.717G>T c.587G>T (p.Gly196Val) c.95G>T (p.Gly32Val) c.500G>T (p.Gly167Val) c.233G>T (p.Gly78Val) c.230G>T (p.Gly77Val) n.640G>T n.592G>T | |
| 9 | g.91298025C= | CA1863721495 | AUH | c.557G= (p.Gly186=) c.470G= (p.Gly157=) n.717G= c.587G= (p.Gly196=) c.95G= (p.Gly32=) c.500G= (p.Gly167=) c.233G= (p.Gly78=) c.230G= (p.Gly77=) n.640G= n.592G= | |
| 9 | g.91298025C>G | CA373836913 | AUH | c.557G>C (p.Gly186Ala) c.470G>C (p.Gly157Ala) n.717G>C c.587G>C (p.Gly196Ala) c.95G>C (p.Gly32Ala) c.500G>C (p.Gly167Ala) c.233G>C (p.Gly78Ala) c.230G>C (p.Gly77Ala) n.640G>C n.592G>C | |
| 9 | g.91298025C>T | CA373836914 | AUH | c.557G>A (p.Gly186Asp) c.470G>A (p.Gly157Asp) n.717G>A c.587G>A (p.Gly196Asp) c.95G>A (p.Gly32Asp) c.500G>A (p.Gly167Asp) c.233G>A (p.Gly78Asp) c.230G>A (p.Gly77Asp) n.640G>A n.592G>A | gnomAD v4 |
| 9 | g.91298025_91298026insGT | CA1863721496 | AUH | c.556_557insAC (p.Gly186AspfsTer8) c.469_470insAC (p.Gly157AspfsTer8) n.716_717insAC c.586_587insAC (p.Gly196AspfsTer8) c.94_95insAC (p.Gly32AspfsTer8) c.499_500insAC (p.Gly167AspfsTer8) c.232_233insAC (p.Gly78AspfsTer8) c.229_230insAC (p.Gly77AspfsTer8) n.639_640insAC n.591_592insAC | dbSNP gnomAD v4 |
| 9 | g.91298026C>A | CA373836916 | AUH | c.556G>T (p.Gly186Cys) c.469G>T (p.Gly157Cys) n.716G>T c.586G>T (p.Gly196Cys) c.94G>T (p.Gly32Cys) c.499G>T (p.Gly167Cys) c.232G>T (p.Gly78Cys) c.229G>T (p.Gly77Cys) n.639G>T n.591G>T | ClinVar dbSNP |
| 9 | g.91298026C= | CA1863721497 | AUH | c.556G= (p.Gly186=) c.469G= (p.Gly157=) n.716G= c.586G= (p.Gly196=) c.94G= (p.Gly32=) c.499G= (p.Gly167=) c.232G= (p.Gly78=) c.229G= (p.Gly77=) n.639G= n.591G= | |
| 9 | g.91298026C>G | CA195909182 | AUH | c.556G>C (p.Gly186Arg) c.469G>C (p.Gly157Arg) n.716G>C c.586G>C (p.Gly196Arg) c.94G>C (p.Gly32Arg) c.499G>C (p.Gly167Arg) c.232G>C (p.Gly78Arg) c.229G>C (p.Gly77Arg) n.639G>C n.591G>C | dbSNP gnomAD v4 |
| 9 | g.91298026C>T | CA373836915 | AUH | c.556G>A (p.Gly186Ser) c.469G>A (p.Gly157Ser) n.716G>A c.586G>A (p.Gly196Ser) c.94G>A (p.Gly32Ser) c.499G>A (p.Gly167Ser) c.232G>A (p.Gly78Ser) c.229G>A (p.Gly77Ser) n.639G>A n.591G>A | |
| 9 | g.91298027A>C | CA466223418 | AUH | c.555T>G (p.Gly185=) c.468T>G (p.Gly156=) n.715T>G c.585T>G (p.Gly195=) c.93T>G (p.Gly31=) c.498T>G (p.Gly166=) c.231T>G (p.Gly77=) c.228T>G (p.Gly76=) n.638T>G n.590T>G | |
| 9 | g.91298027A>G | CA466223419 | AUH | c.555T>C (p.Gly185=) c.468T>C (p.Gly156=) n.715T>C c.585T>C (p.Gly195=) c.93T>C (p.Gly31=) c.498T>C (p.Gly166=) c.231T>C (p.Gly77=) c.228T>C (p.Gly76=) n.638T>C n.590T>C | |
| 9 | g.91298027A>T | CA466223421 | AUH | c.555T>A (p.Gly185=) c.468T>A (p.Gly156=) n.715T>A c.585T>A (p.Gly195=) c.93T>A (p.Gly31=) c.498T>A (p.Gly166=) c.231T>A (p.Gly77=) c.228T>A (p.Gly76=) n.638T>A n.590T>A | |
| 9 | g.91298028C>A | CA373836917 | AUH | c.554G>T (p.Gly185Val) c.467G>T (p.Gly156Val) n.714G>T c.584G>T (p.Gly195Val) c.92G>T (p.Gly31Val) c.497G>T (p.Gly166Val) c.230G>T (p.Gly77Val) c.227G>T (p.Gly76Val) n.637G>T n.589G>T | COSMIC |
| 9 | g.91298028C= | CA1863721498 | AUH | c.554G= (p.Gly185=) c.467G= (p.Gly156=) n.714G= c.584G= (p.Gly195=) c.92G= (p.Gly31=) c.497G= (p.Gly166=) c.230G= (p.Gly77=) c.227G= (p.Gly76=) n.637G= n.589G= | |
| 9 | g.91298028C>G | CA373836918 | AUH | c.554G>C (p.Gly185Ala) c.467G>C (p.Gly156Ala) n.714G>C c.584G>C (p.Gly195Ala) c.92G>C (p.Gly31Ala) c.497G>C (p.Gly166Ala) c.230G>C (p.Gly77Ala) c.227G>C (p.Gly76Ala) n.637G>C n.589G>C | |
| 9 | g.91298028C>T | CA373836919 | AUH | c.554G>A (p.Gly185Asp) c.467G>A (p.Gly156Asp) n.714G>A c.584G>A (p.Gly195Asp) c.92G>A (p.Gly31Asp) c.497G>A (p.Gly166Asp) c.230G>A (p.Gly77Asp) c.227G>A (p.Gly76Asp) n.637G>A n.589G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298029C>A | CA373836920 | AUH | c.553G>T (p.Gly185Cys) c.466G>T (p.Gly156Cys) n.713G>T c.583G>T (p.Gly195Cys) c.91G>T (p.Gly31Cys) c.496G>T (p.Gly166Cys) c.229G>T (p.Gly77Cys) c.226G>T (p.Gly76Cys) n.636G>T n.588G>T | |
| 9 | g.91298029C>G | CA373836921 | AUH | c.553G>C (p.Gly185Arg) c.466G>C (p.Gly156Arg) n.713G>C c.583G>C (p.Gly195Arg) c.91G>C (p.Gly31Arg) c.496G>C (p.Gly166Arg) c.229G>C (p.Gly77Arg) c.226G>C (p.Gly76Arg) n.636G>C n.588G>C | |
| 9 | g.91298029C>T | CA373836922 | AUH | c.553G>A (p.Gly185Ser) c.466G>A (p.Gly156Ser) n.713G>A c.583G>A (p.Gly195Ser) c.91G>A (p.Gly31Ser) c.496G>A (p.Gly166Ser) c.229G>A (p.Gly77Ser) c.226G>A (p.Gly76Ser) n.636G>A n.588G>A | |
| 9 | g.91298030T>A | CA373836923 | AUH | c.552A>T (p.Leu184Phe) c.465A>T (p.Leu155Phe) n.712A>T c.582A>T (p.Leu194Phe) c.90A>T (p.Leu30Phe) c.495A>T (p.Leu165Phe) c.228A>T (p.Leu76Phe) c.225A>T (p.Leu75Phe) n.635A>T n.587A>T | |
| 9 | g.91298030T>C | CA466223430 | AUH | c.552A>G (p.Leu184=) c.465A>G (p.Leu155=) n.712A>G c.582A>G (p.Leu194=) c.90A>G (p.Leu30=) c.495A>G (p.Leu165=) c.228A>G (p.Leu76=) c.225A>G (p.Leu75=) n.635A>G n.587A>G | |
| 9 | g.91298030T>G | CA373836924 | AUH | c.552A>C (p.Leu184Phe) c.465A>C (p.Leu155Phe) n.712A>C c.582A>C (p.Leu194Phe) c.90A>C (p.Leu30Phe) c.495A>C (p.Leu165Phe) c.228A>C (p.Leu76Phe) c.225A>C (p.Leu75Phe) n.635A>C n.587A>C | |
| 9 | g.91298031A>C | CA373836925 | AUH | c.551T>G (p.Leu184Ter) c.464T>G (p.Leu155Ter) n.711T>G c.581T>G (p.Leu194Ter) c.89T>G (p.Leu30Ter) c.494T>G (p.Leu165Ter) c.227T>G (p.Leu76Ter) c.224T>G (p.Leu75Ter) n.634T>G n.586T>G | |
| 9 | g.91298031A>G | CA373836926 | AUH | c.551T>C (p.Leu184Ser) c.464T>C (p.Leu155Ser) n.711T>C c.581T>C (p.Leu194Ser) c.89T>C (p.Leu30Ser) c.494T>C (p.Leu165Ser) c.227T>C (p.Leu76Ser) c.224T>C (p.Leu75Ser) n.634T>C n.586T>C | |
| 9 | g.91298031A>T | CA373836927 | AUH | c.551T>A (p.Leu184Ter) c.464T>A (p.Leu155Ter) n.711T>A c.581T>A (p.Leu194Ter) c.89T>A (p.Leu30Ter) c.494T>A (p.Leu165Ter) c.227T>A (p.Leu76Ter) c.224T>A (p.Leu75Ter) n.634T>A n.586T>A | |
| 9 | g.91298032A>C | CA373836928 | AUH | c.550T>G (p.Leu184Val) c.463T>G (p.Leu155Val) n.710T>G c.580T>G (p.Leu194Val) c.88T>G (p.Leu30Val) c.493T>G (p.Leu165Val) c.226T>G (p.Leu76Val) c.223T>G (p.Leu75Val) n.633T>G n.585T>G | |
| 9 | g.91298032A>G | CA466223437 | AUH | c.550T>C (p.Leu184=) c.463T>C (p.Leu155=) n.710T>C c.580T>C (p.Leu194=) c.88T>C (p.Leu30=) c.493T>C (p.Leu165=) c.226T>C (p.Leu76=) c.223T>C (p.Leu75=) n.633T>C n.585T>C | |
| 9 | g.91298032A>T | CA373836929 | AUH | c.550T>A (p.Leu184Ile) c.463T>A (p.Leu155Ile) n.710T>A c.580T>A (p.Leu194Ile) c.88T>A (p.Leu30Ile) c.493T>A (p.Leu165Ile) c.226T>A (p.Leu76Ile) c.223T>A (p.Leu75Ile) n.633T>A n.585T>A | |
| 9 | g.91298033A>C | CA466223441 | AUH | c.549T>G (p.Ala183=) c.462T>G (p.Ala154=) n.709T>G c.579T>G (p.Ala193=) c.87T>G (p.Ala29=) c.492T>G (p.Ala164=) c.225T>G (p.Ala75=) c.222T>G (p.Ala74=) n.632T>G n.584T>G | |
| 9 | g.91298033A>G | CA466223443 | AUH | c.549T>C (p.Ala183=) c.462T>C (p.Ala154=) n.709T>C c.579T>C (p.Ala193=) c.87T>C (p.Ala29=) c.492T>C (p.Ala164=) c.225T>C (p.Ala75=) c.222T>C (p.Ala74=) n.632T>C n.584T>C | |
| 9 | g.91298033A>T | CA466223445 | AUH | c.549T>A (p.Ala183=) c.462T>A (p.Ala154=) n.709T>A c.579T>A (p.Ala193=) c.87T>A (p.Ala29=) c.492T>A (p.Ala164=) c.225T>A (p.Ala75=) c.222T>A (p.Ala74=) n.632T>A n.584T>A | |
| 9 | g.91298033_91298034insCCAAACACACCCAACACA | CA2785066508 | AUH | c.549_550insGTGTTGGGTGTGTTTGGT (p.Ala183_Leu184insValLeuGlyValPheGly) c.462_463insGTGTTGGGTGTGTTTGGT (p.Ala154_Leu155insValLeuGlyValPheGly) n.709_710insGTGTTGGGTGTGTTTGGT c.579_580insGTGTTGGGTGTGTTTGGT (p.Ala193_Leu194insValLeuGlyValPheGly) c.87_88insGTGTTGGGTGTGTTTGGT (p.Ala29_Leu30insValLeuGlyValPheGly) c.492_493insGTGTTGGGTGTGTTTGGT (p.Ala164_Leu165insValLeuGlyValPheGly) c.225_226insGTGTTGGGTGTGTTTGGT (p.Ala75_Leu76insValLeuGlyValPheGly) c.222_223insGTGTTGGGTGTGTTTGGT (p.Ala74_Leu75insValLeuGlyValPheGly) n.632_633insGTGTTGGGTGTGTTTGGT n.584_585insGTGTTGGGTGTGTTTGGT | |
| 9 | g.91298034G>A | CA373836932 | AUH | c.548C>T (p.Ala183Val) c.461C>T (p.Ala154Val) n.708C>T c.578C>T (p.Ala193Val) c.86C>T (p.Ala29Val) c.491C>T (p.Ala164Val) c.224C>T (p.Ala75Val) c.221C>T (p.Ala74Val) n.631C>T n.583C>T | dbSNP |
| 9 | g.91298034G>C | CA373836931 | AUH | c.548C>G (p.Ala183Gly) c.461C>G (p.Ala154Gly) n.708C>G c.578C>G (p.Ala193Gly) c.86C>G (p.Ala29Gly) c.491C>G (p.Ala164Gly) c.224C>G (p.Ala75Gly) c.221C>G (p.Ala74Gly) n.631C>G n.583C>G | gnomAD v4 |
| 9 | g.91298034G= | CA1863721499 | AUH | c.548C= (p.Ala183=) c.461C= (p.Ala154=) n.708C= c.578C= (p.Ala193=) c.86C= (p.Ala29=) c.491C= (p.Ala164=) c.224C= (p.Ala75=) c.221C= (p.Ala74=) n.631C= n.583C= | |
| 9 | g.91298034G>T | CA373836930 | AUH | c.548C>A (p.Ala183Asp) c.461C>A (p.Ala154Asp) n.708C>A c.578C>A (p.Ala193Asp) c.86C>A (p.Ala29Asp) c.491C>A (p.Ala164Asp) c.224C>A (p.Ala75Asp) c.221C>A (p.Ala74Asp) n.631C>A n.583C>A | |
| 9 | g.91298035C>A | CA373836933 | AUH | c.547G>T (p.Ala183Ser) c.460G>T (p.Ala154Ser) n.707G>T c.577G>T (p.Ala193Ser) c.85G>T (p.Ala29Ser) c.490G>T (p.Ala164Ser) c.223G>T (p.Ala75Ser) c.220G>T (p.Ala74Ser) n.630G>T n.582G>T | |
| 9 | g.91298035C= | CA1863721500 | AUH | c.547G= (p.Ala183=) c.460G= (p.Ala154=) n.707G= c.577G= (p.Ala193=) c.85G= (p.Ala29=) c.490G= (p.Ala164=) c.223G= (p.Ala75=) c.220G= (p.Ala74=) n.630G= n.582G= | |
| 9 | g.91298035C>G | CA373836934 | AUH | c.547G>C (p.Ala183Pro) c.460G>C (p.Ala154Pro) n.707G>C c.577G>C (p.Ala193Pro) c.85G>C (p.Ala29Pro) c.490G>C (p.Ala164Pro) c.223G>C (p.Ala75Pro) c.220G>C (p.Ala74Pro) n.630G>C n.582G>C | |
| 9 | g.91298035C>T | CA5119820 | AUH | c.547G>A (p.Ala183Thr) c.460G>A (p.Ala154Thr) n.707G>A c.577G>A (p.Ala193Thr) c.85G>A (p.Ala29Thr) c.490G>A (p.Ala164Thr) c.223G>A (p.Ala75Thr) c.220G>A (p.Ala74Thr) n.630G>A n.582G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91298036G>A | CA5119821 | AUH | c.546C>T (p.Leu182=) c.459C>T (p.Leu153=) n.706C>T c.576C>T (p.Leu192=) c.84C>T (p.Leu28=) c.489C>T (p.Leu163=) c.222C>T (p.Leu74=) c.219C>T (p.Leu73=) n.629C>T n.581C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298036G>C | CA466223456 | AUH | c.546C>G (p.Leu182=) c.459C>G (p.Leu153=) n.706C>G c.576C>G (p.Leu192=) c.84C>G (p.Leu28=) c.489C>G (p.Leu163=) c.222C>G (p.Leu74=) c.219C>G (p.Leu73=) n.629C>G n.581C>G | |
| 9 | g.91298036G= | CA1863721501 | AUH | c.546C= (p.Leu182=) c.459C= (p.Leu153=) n.706C= c.576C= (p.Leu192=) c.84C= (p.Leu28=) c.489C= (p.Leu163=) c.222C= (p.Leu74=) c.219C= (p.Leu73=) n.629C= n.581C= | |
| 9 | g.91298036G>T | CA466223458 | AUH | c.546C>A (p.Leu182=) c.459C>A (p.Leu153=) n.706C>A c.576C>A (p.Leu192=) c.84C>A (p.Leu28=) c.489C>A (p.Leu163=) c.222C>A (p.Leu74=) c.219C>A (p.Leu73=) n.629C>A n.581C>A | |
| 9 | g.91298037A>C | CA373836935 | AUH | c.545T>G (p.Leu182Arg) c.458T>G (p.Leu153Arg) n.705T>G c.575T>G (p.Leu192Arg) c.83T>G (p.Leu28Arg) c.488T>G (p.Leu163Arg) c.221T>G (p.Leu74Arg) c.218T>G (p.Leu73Arg) n.628T>G n.580T>G | |
| 9 | g.91298037A>G | CA373836936 | AUH | c.545T>C (p.Leu182Pro) c.458T>C (p.Leu153Pro) n.705T>C c.575T>C (p.Leu192Pro) c.83T>C (p.Leu28Pro) c.488T>C (p.Leu163Pro) c.221T>C (p.Leu74Pro) c.218T>C (p.Leu73Pro) n.628T>C n.580T>C | |
| 9 | g.91298037A>T | CA373836937 | AUH | c.545T>A (p.Leu182His) c.458T>A (p.Leu153His) n.705T>A c.575T>A (p.Leu192His) c.83T>A (p.Leu28His) c.488T>A (p.Leu163His) c.221T>A (p.Leu74His) c.218T>A (p.Leu73His) n.628T>A n.580T>A | |
| 9 | g.91298038G>A | CA373836938 | AUH | c.544C>T (p.Leu182Phe) c.457C>T (p.Leu153Phe) n.704C>T c.574C>T (p.Leu192Phe) c.82C>T (p.Leu28Phe) c.487C>T (p.Leu163Phe) c.220C>T (p.Leu74Phe) c.217C>T (p.Leu73Phe) n.627C>T n.579C>T | |
| 9 | g.91298038G>C | CA373836939 | AUH | c.544C>G (p.Leu182Val) c.457C>G (p.Leu153Val) n.704C>G c.574C>G (p.Leu192Val) c.82C>G (p.Leu28Val) c.487C>G (p.Leu163Val) c.220C>G (p.Leu74Val) c.217C>G (p.Leu73Val) n.627C>G n.579C>G | |
| 9 | g.91298038G>T | CA373836940 | AUH | c.544C>A (p.Leu182Ile) c.457C>A (p.Leu153Ile) n.704C>A c.574C>A (p.Leu192Ile) c.82C>A (p.Leu28Ile) c.487C>A (p.Leu163Ile) c.220C>A (p.Leu74Ile) c.217C>A (p.Leu73Ile) n.627C>A n.579C>A | gnomAD v4 |
| 9 | g.91298039T>A | CA466223468 | AUH | c.543A>T (p.Gly181=) c.456A>T (p.Gly152=) n.703A>T c.573A>T (p.Gly191=) c.81A>T (p.Gly27=) c.486A>T (p.Gly162=) c.219A>T (p.Gly73=) c.216A>T (p.Gly72=) n.626A>T n.578A>T | |
| 9 | g.91298039T>C | CA466223470 | AUH | c.543A>G (p.Gly181=) c.456A>G (p.Gly152=) n.703A>G c.573A>G (p.Gly191=) c.81A>G (p.Gly27=) c.486A>G (p.Gly162=) c.219A>G (p.Gly73=) c.216A>G (p.Gly72=) n.626A>G n.578A>G | |
| 9 | g.91298039T>G | CA195909185 | AUH | c.543A>C (p.Gly181=) c.456A>C (p.Gly152=) n.703A>C c.573A>C (p.Gly191=) c.81A>C (p.Gly27=) c.486A>C (p.Gly162=) c.219A>C (p.Gly73=) c.216A>C (p.Gly72=) n.626A>C n.578A>C | dbSNP gnomAD v4 |
| 9 | g.91298039T= | CA1863721502 | AUH | c.543A= (p.Gly181=) c.456A= (p.Gly152=) n.703A= c.573A= (p.Gly191=) c.81A= (p.Gly27=) c.486A= (p.Gly162=) c.219A= (p.Gly73=) c.216A= (p.Gly72=) n.626A= n.578A= | |
| 9 | g.91298040C>A | CA373836941 | AUH | c.542G>T (p.Gly181Val) c.455G>T (p.Gly152Val) n.702G>T c.572G>T (p.Gly191Val) c.80G>T (p.Gly27Val) c.485G>T (p.Gly162Val) c.218G>T (p.Gly73Val) c.215G>T (p.Gly72Val) n.625G>T n.577G>T | |
| 9 | g.91298040C>G | CA373836942 | AUH | c.542G>C (p.Gly181Ala) c.455G>C (p.Gly152Ala) n.702G>C c.572G>C (p.Gly191Ala) c.80G>C (p.Gly27Ala) c.485G>C (p.Gly162Ala) c.218G>C (p.Gly73Ala) c.215G>C (p.Gly72Ala) n.625G>C n.577G>C | |
| 9 | g.91298040C>T | CA373836943 | AUH | c.542G>A (p.Gly181Glu) c.455G>A (p.Gly152Glu) n.702G>A c.572G>A (p.Gly191Glu) c.80G>A (p.Gly27Glu) c.485G>A (p.Gly162Glu) c.218G>A (p.Gly73Glu) c.215G>A (p.Gly72Glu) n.625G>A n.577G>A | |
| 9 | g.91298041C>A | CA373836945 | AUH | c.541G>T (p.Gly181Ter) c.454G>T (p.Gly152Ter) n.701G>T c.571G>T (p.Gly191Ter) c.79G>T (p.Gly27Ter) c.484G>T (p.Gly162Ter) c.217G>T (p.Gly73Ter) c.214G>T (p.Gly72Ter) n.624G>T n.576G>T | |
| 9 | g.91298041C>G | CA373836946 | AUH | c.541G>C (p.Gly181Arg) c.454G>C (p.Gly152Arg) n.701G>C c.571G>C (p.Gly191Arg) c.79G>C (p.Gly27Arg) c.484G>C (p.Gly162Arg) c.217G>C (p.Gly73Arg) c.214G>C (p.Gly72Arg) n.624G>C n.576G>C | |
| 9 | g.91298041C>T | CA373836944 | AUH | c.541G>A (p.Gly181Arg) c.454G>A (p.Gly152Arg) n.701G>A c.571G>A (p.Gly191Arg) c.79G>A (p.Gly27Arg) c.484G>A (p.Gly162Arg) c.217G>A (p.Gly73Arg) c.214G>A (p.Gly72Arg) n.624G>A n.576G>A | |
| 9 | g.91298042A= | CA1863721503 | AUH | c.540T= (p.Asp180=) c.453T= (p.Asp151=) n.700T= c.570T= (p.Asp190=) c.78T= (p.Asp26=) c.483T= (p.Asp161=) c.216T= (p.Asp72=) c.213T= (p.Asp71=) n.623T= n.575T= | |
| 9 | g.91298042A>C | CA5119822 | AUH | c.540T>G (p.Asp180Glu) c.453T>G (p.Asp151Glu) n.700T>G c.570T>G (p.Asp190Glu) c.78T>G (p.Asp26Glu) c.483T>G (p.Asp161Glu) c.216T>G (p.Asp72Glu) c.213T>G (p.Asp71Glu) n.623T>G n.575T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298042A>G | CA466223481 | AUH | c.540T>C (p.Asp180=) c.453T>C (p.Asp151=) n.700T>C c.570T>C (p.Asp190=) c.78T>C (p.Asp26=) c.483T>C (p.Asp161=) c.216T>C (p.Asp72=) c.213T>C (p.Asp71=) n.623T>C n.575T>C | |
| 9 | g.91298042A>T | CA373836947 | AUH | c.540T>A (p.Asp180Glu) c.453T>A (p.Asp151Glu) n.700T>A c.570T>A (p.Asp190Glu) c.78T>A (p.Asp26Glu) c.483T>A (p.Asp161Glu) c.216T>A (p.Asp72Glu) c.213T>A (p.Asp71Glu) n.623T>A n.575T>A | |
| 9 | g.91298043T>A | CA373836948 | AUH | c.539A>T (p.Asp180Val) c.452A>T (p.Asp151Val) n.699A>T c.569A>T (p.Asp190Val) c.77A>T (p.Asp26Val) c.482A>T (p.Asp161Val) c.215A>T (p.Asp72Val) c.212A>T (p.Asp71Val) n.622A>T n.574A>T | dbSNP |
| 9 | g.91298043T>C | CA373836949 | AUH | c.539A>G (p.Asp180Gly) c.452A>G (p.Asp151Gly) n.699A>G c.569A>G (p.Asp190Gly) c.77A>G (p.Asp26Gly) c.482A>G (p.Asp161Gly) c.215A>G (p.Asp72Gly) c.212A>G (p.Asp71Gly) n.622A>G n.574A>G | |
| 9 | g.91298043T>G | CA373836950 | AUH | c.539A>C (p.Asp180Ala) c.452A>C (p.Asp151Ala) n.699A>C c.569A>C (p.Asp190Ala) c.77A>C (p.Asp26Ala) c.482A>C (p.Asp161Ala) c.215A>C (p.Asp72Ala) c.212A>C (p.Asp71Ala) n.622A>C n.574A>C | |
| 9 | g.91298043T= | CA1863721504 | AUH | c.539A= (p.Asp180=) c.452A= (p.Asp151=) n.699A= c.569A= (p.Asp190=) c.77A= (p.Asp26=) c.482A= (p.Asp161=) c.215A= (p.Asp72=) c.212A= (p.Asp71=) n.622A= n.574A= | |
| 9 | g.91298044C>A | CA373836951 | AUH | c.538G>T (p.Asp180Tyr) c.451G>T (p.Asp151Tyr) n.698G>T c.568G>T (p.Asp190Tyr) c.76G>T (p.Asp26Tyr) c.481G>T (p.Asp161Tyr) c.214G>T (p.Asp72Tyr) c.211G>T (p.Asp71Tyr) n.621G>T n.573G>T | |
| 9 | g.91298044C>G | CA373836952 | AUH | c.538G>C (p.Asp180His) c.451G>C (p.Asp151His) n.698G>C c.568G>C (p.Asp190His) c.76G>C (p.Asp26His) c.481G>C (p.Asp161His) c.214G>C (p.Asp72His) c.211G>C (p.Asp71His) n.621G>C n.573G>C | |
| 9 | g.91298044C>T | CA373836953 | AUH | c.538G>A (p.Asp180Asn) c.451G>A (p.Asp151Asn) n.698G>A c.568G>A (p.Asp190Asn) c.76G>A (p.Asp26Asn) c.481G>A (p.Asp161Asn) c.214G>A (p.Asp72Asn) c.211G>A (p.Asp71Asn) n.621G>A n.573G>A | |
| 9 | g.91298045T>A | CA466223491 | AUH | c.537A>T (p.Ile179=) c.450A>T (p.Ile150=) n.697A>T c.567A>T (p.Ile189=) c.75A>T (p.Ile25=) c.480A>T (p.Ile160=) c.213A>T (p.Ile71=) c.210A>T (p.Ile70=) n.620A>T n.572A>T | |
| 9 | g.91298045T>C | CA373836954 | AUH | c.537A>G (p.Ile179Met) c.450A>G (p.Ile150Met) n.697A>G c.567A>G (p.Ile189Met) c.75A>G (p.Ile25Met) c.480A>G (p.Ile160Met) c.213A>G (p.Ile71Met) c.210A>G (p.Ile70Met) n.620A>G n.572A>G | |
| 9 | g.91298045T>G | CA466223490 | AUH | c.537A>C (p.Ile179=) c.450A>C (p.Ile150=) n.697A>C c.567A>C (p.Ile189=) c.75A>C (p.Ile25=) c.480A>C (p.Ile160=) c.213A>C (p.Ile71=) c.210A>C (p.Ile70=) n.620A>C n.572A>C | |
| 9 | g.91298046A= | CA1863721505 | AUH | c.536T= (p.Ile179=) c.449T= (p.Ile150=) n.696T= c.566T= (p.Ile189=) c.74T= (p.Ile25=) c.479T= (p.Ile160=) c.212T= (p.Ile71=) c.209T= (p.Ile70=) n.619T= n.571T= | |
| 9 | g.91298046A>C | CA373836955 | AUH | c.536T>G (p.Ile179Arg) c.449T>G (p.Ile150Arg) n.696T>G c.566T>G (p.Ile189Arg) c.74T>G (p.Ile25Arg) c.479T>G (p.Ile160Arg) c.212T>G (p.Ile71Arg) c.209T>G (p.Ile70Arg) n.619T>G n.571T>G | |
| 9 | g.91298046A>G | CA373836956 | AUH | c.536T>C (p.Ile179Thr) c.449T>C (p.Ile150Thr) n.696T>C c.566T>C (p.Ile189Thr) c.74T>C (p.Ile25Thr) c.479T>C (p.Ile160Thr) c.212T>C (p.Ile71Thr) c.209T>C (p.Ile70Thr) n.619T>C n.571T>C | |
| 9 | g.91298046A>T | CA373836957 | AUH | c.536T>A (p.Ile179Lys) c.449T>A (p.Ile150Lys) n.696T>A c.566T>A (p.Ile189Lys) c.74T>A (p.Ile25Lys) c.479T>A (p.Ile160Lys) c.212T>A (p.Ile71Lys) c.209T>A (p.Ile70Lys) n.619T>A n.571T>A | |
| 9 | g.91298047T>A | CA373836959 | AUH | c.535A>T (p.Ile179Leu) c.448A>T (p.Ile150Leu) n.695A>T c.565A>T (p.Ile189Leu) c.73A>T (p.Ile25Leu) c.478A>T (p.Ile160Leu) c.211A>T (p.Ile71Leu) c.208A>T (p.Ile70Leu) n.618A>T n.570A>T | |
| 9 | g.91298047T>C | CA324062 | AUH | c.535A>G (p.Ile179Val) c.448A>G (p.Ile150Val) n.695A>G c.565A>G (p.Ile189Val) c.73A>G (p.Ile25Val) c.478A>G (p.Ile160Val) c.211A>G (p.Ile71Val) c.208A>G (p.Ile70Val) n.618A>G n.570A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298047T>G | CA373836958 | AUH | c.535A>C (p.Ile179Leu) c.448A>C (p.Ile150Leu) n.695A>C c.565A>C (p.Ile189Leu) c.73A>C (p.Ile25Leu) c.478A>C (p.Ile160Leu) c.211A>C (p.Ile71Leu) c.208A>C (p.Ile70Leu) n.618A>C n.570A>C | |
| 9 | g.91298047T= | CA1863721506 | AUH | c.535A= (p.Ile179=) c.448A= (p.Ile150=) n.695A= c.565A= (p.Ile189=) c.73A= (p.Ile25=) c.478A= (p.Ile160=) c.211A= (p.Ile71=) c.208A= (p.Ile70=) n.618A= n.570A= | |
| 9 | g.91298048dup | CA589433717 | AUH | c.535dup (p.Ile179AsnfsTer11) c.448dup (p.Ile150AsnfsTer11) n.695dup c.565dup (p.Ile189AsnfsTer11) c.73dup (p.Ile25AsnfsTer11) c.478dup (p.Ile160AsnfsTer11) c.211dup (p.Ile71AsnfsTer11) c.208dup (p.Ile70AsnfsTer11) n.618dup n.570dup | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298048T>A | CA466223501 | AUH | c.534A>T (p.Ala178=) c.447A>T (p.Ala149=) n.694A>T c.564A>T (p.Ala188=) c.72A>T (p.Ala24=) c.477A>T (p.Ala159=) c.210A>T (p.Ala70=) c.207A>T (p.Ala69=) n.617A>T n.569A>T | |
| 9 | g.91298048T>C | CA466223503 | AUH | c.534A>G (p.Ala178=) c.447A>G (p.Ala149=) n.694A>G c.564A>G (p.Ala188=) c.72A>G (p.Ala24=) c.477A>G (p.Ala159=) c.210A>G (p.Ala70=) c.207A>G (p.Ala69=) n.617A>G n.569A>G | |
| 9 | g.91298048T>G | CA466223505 | AUH | c.534A>C (p.Ala178=) c.447A>C (p.Ala149=) n.694A>C c.564A>C (p.Ala188=) c.72A>C (p.Ala24=) c.477A>C (p.Ala159=) c.210A>C (p.Ala70=) c.207A>C (p.Ala69=) n.617A>C n.569A>C | |
| 9 | g.91298049G>A | CA373836960 | AUH | c.533C>T (p.Ala178Val) c.446C>T (p.Ala149Val) n.693C>T c.563C>T (p.Ala188Val) c.71C>T (p.Ala24Val) c.476C>T (p.Ala159Val) c.209C>T (p.Ala70Val) c.206C>T (p.Ala69Val) n.616C>T n.568C>T | gnomAD v4 |
| 9 | g.91298049G>C | CA373836961 | AUH | c.533C>G (p.Ala178Gly) c.446C>G (p.Ala149Gly) n.693C>G c.563C>G (p.Ala188Gly) c.71C>G (p.Ala24Gly) c.476C>G (p.Ala159Gly) c.209C>G (p.Ala70Gly) c.206C>G (p.Ala69Gly) n.616C>G n.568C>G | |
| 9 | g.91298049G>T | CA373836962 | AUH | c.533C>A (p.Ala178Glu) c.446C>A (p.Ala149Glu) n.693C>A c.563C>A (p.Ala188Glu) c.71C>A (p.Ala24Glu) c.476C>A (p.Ala159Glu) c.209C>A (p.Ala70Glu) c.206C>A (p.Ala69Glu) n.616C>A n.568C>A | |
| 9 | g.91298050C>A | CA373836963 | AUH | c.532G>T (p.Ala178Ser) c.445G>T (p.Ala149Ser) n.692G>T c.562G>T (p.Ala188Ser) c.70G>T (p.Ala24Ser) c.475G>T (p.Ala159Ser) c.208G>T (p.Ala70Ser) c.205G>T (p.Ala69Ser) n.615G>T n.567G>T | |
| 9 | g.91298050C>G | CA373836964 | AUH | c.532G>C (p.Ala178Pro) c.445G>C (p.Ala149Pro) n.692G>C c.562G>C (p.Ala188Pro) c.70G>C (p.Ala24Pro) c.475G>C (p.Ala159Pro) c.208G>C (p.Ala70Pro) c.205G>C (p.Ala69Pro) n.615G>C n.567G>C | |
| 9 | g.91298050C>T | CA373836965 | AUH | c.532G>A (p.Ala178Thr) c.445G>A (p.Ala149Thr) n.692G>A c.562G>A (p.Ala188Thr) c.70G>A (p.Ala24Thr) c.475G>A (p.Ala159Thr) c.208G>A (p.Ala70Thr) c.205G>A (p.Ala69Thr) n.615G>A n.567G>A | |
| 9 | g.91298051T>A | CA466223513 | AUH | c.531A>T (p.Ala177=) c.444A>T (p.Ala148=) n.691A>T c.561A>T (p.Ala187=) c.69A>T (p.Ala23=) c.474A>T (p.Ala158=) c.207A>T (p.Ala69=) c.204A>T (p.Ala68=) n.614A>T n.566A>T | |
| 9 | g.91298051T>C | CA466223515 | AUH | c.531A>G (p.Ala177=) c.444A>G (p.Ala148=) n.691A>G c.561A>G (p.Ala187=) c.69A>G (p.Ala23=) c.474A>G (p.Ala158=) c.207A>G (p.Ala69=) c.204A>G (p.Ala68=) n.614A>G n.566A>G | |
| 9 | g.91298051T>G | CA466223517 | AUH | c.531A>C (p.Ala177=) c.444A>C (p.Ala148=) n.691A>C c.561A>C (p.Ala187=) c.69A>C (p.Ala23=) c.474A>C (p.Ala158=) c.207A>C (p.Ala69=) c.204A>C (p.Ala68=) n.614A>C n.566A>C | |
| 9 | g.91298052G>A | CA373836966 | AUH | c.530C>T (p.Ala177Val) c.443C>T (p.Ala148Val) n.690C>T c.560C>T (p.Ala187Val) c.68C>T (p.Ala23Val) c.473C>T (p.Ala158Val) c.206C>T (p.Ala69Val) c.203C>T (p.Ala68Val) n.613C>T n.565C>T | |
| 9 | g.91298052G>C | CA373836967 | AUH | c.530C>G (p.Ala177Gly) c.443C>G (p.Ala148Gly) n.690C>G c.560C>G (p.Ala187Gly) c.68C>G (p.Ala23Gly) c.473C>G (p.Ala158Gly) c.206C>G (p.Ala69Gly) c.203C>G (p.Ala68Gly) n.613C>G n.565C>G | |
| 9 | g.91298052G>T | CA373836968 | AUH | c.530C>A (p.Ala177Glu) c.443C>A (p.Ala148Glu) n.690C>A c.560C>A (p.Ala187Glu) c.68C>A (p.Ala23Glu) c.473C>A (p.Ala158Glu) c.206C>A (p.Ala69Glu) c.203C>A (p.Ala68Glu) n.613C>A n.565C>A | |
| 9 | g.91298053C>A | CA373836969 | AUH | c.529G>T (p.Ala177Ser) c.442G>T (p.Ala148Ser) n.689G>T c.559G>T (p.Ala187Ser) c.67G>T (p.Ala23Ser) c.472G>T (p.Ala158Ser) c.205G>T (p.Ala69Ser) c.202G>T (p.Ala68Ser) n.612G>T n.564G>T | |
| 9 | g.91298053C>G | CA373836970 | AUH | c.529G>C (p.Ala177Pro) c.442G>C (p.Ala148Pro) n.689G>C c.559G>C (p.Ala187Pro) c.67G>C (p.Ala23Pro) c.472G>C (p.Ala158Pro) c.205G>C (p.Ala69Pro) c.202G>C (p.Ala68Pro) n.612G>C n.564G>C | |
| 9 | g.91298053C>T | CA373836971 | AUH | c.529G>A (p.Ala177Thr) c.442G>A (p.Ala148Thr) n.689G>A c.559G>A (p.Ala187Thr) c.67G>A (p.Ala23Thr) c.472G>A (p.Ala158Thr) c.205G>A (p.Ala69Thr) c.202G>A (p.Ala68Thr) n.612G>A n.564G>A | |
| 9 | g.91298054A>C | CA373836972 | AUH | c.528T>G (p.Ile176Met) c.441T>G (p.Ile147Met) n.688T>G c.558T>G (p.Ile186Met) c.66T>G (p.Ile22Met) c.471T>G (p.Ile157Met) c.204T>G (p.Ile68Met) c.201T>G (p.Ile67Met) n.611T>G n.563T>G | |
| 9 | g.91298054A>G | CA466223526 | AUH | c.528T>C (p.Ile176=) c.441T>C (p.Ile147=) n.688T>C c.558T>C (p.Ile186=) c.66T>C (p.Ile22=) c.471T>C (p.Ile157=) c.204T>C (p.Ile68=) c.201T>C (p.Ile67=) n.611T>C n.563T>C | gnomAD v4 |
| 9 | g.91298054A>T | CA466223528 | AUH | c.528T>A (p.Ile176=) c.441T>A (p.Ile147=) n.688T>A c.558T>A (p.Ile186=) c.66T>A (p.Ile22=) c.471T>A (p.Ile157=) c.204T>A (p.Ile68=) c.201T>A (p.Ile67=) n.611T>A n.563T>A | |
| 9 | g.91298055A>C | CA373836974 | AUH | c.527T>G (p.Ile176Ser) c.440T>G (p.Ile147Ser) n.687T>G c.557T>G (p.Ile186Ser) c.65T>G (p.Ile22Ser) c.470T>G (p.Ile157Ser) c.203T>G (p.Ile68Ser) c.200T>G (p.Ile67Ser) n.610T>G n.562T>G | |
| 9 | g.91298055A>G | CA373836975 | AUH | c.527T>C (p.Ile176Thr) c.440T>C (p.Ile147Thr) n.687T>C c.557T>C (p.Ile186Thr) c.65T>C (p.Ile22Thr) c.470T>C (p.Ile157Thr) c.203T>C (p.Ile68Thr) c.200T>C (p.Ile67Thr) n.610T>C n.562T>C | |
| 9 | g.91298055A>T | CA373836973 | AUH | c.527T>A (p.Ile176Asn) c.440T>A (p.Ile147Asn) n.687T>A c.557T>A (p.Ile186Asn) c.65T>A (p.Ile22Asn) c.470T>A (p.Ile157Asn) c.203T>A (p.Ile68Asn) c.200T>A (p.Ile67Asn) n.610T>A n.562T>A | |
| 9 | g.91298056T>A | CA373836977 | AUH | c.526A>T (p.Ile176Phe) c.439A>T (p.Ile147Phe) n.686A>T c.556A>T (p.Ile186Phe) c.64A>T (p.Ile22Phe) c.469A>T (p.Ile157Phe) c.202A>T (p.Ile68Phe) c.199A>T (p.Ile67Phe) n.609A>T n.561A>T | |
| 9 | g.91298056T>C | CA373836976 | AUH | c.526A>G (p.Ile176Val) c.439A>G (p.Ile147Val) n.686A>G c.556A>G (p.Ile186Val) c.64A>G (p.Ile22Val) c.469A>G (p.Ile157Val) c.202A>G (p.Ile68Val) c.199A>G (p.Ile67Val) n.609A>G n.561A>G | ClinVar dbSNP COSMIC |
| 9 | g.91298056T>G | CA373836978 | AUH | c.526A>C (p.Ile176Leu) c.439A>C (p.Ile147Leu) n.686A>C c.556A>C (p.Ile186Leu) c.64A>C (p.Ile22Leu) c.469A>C (p.Ile157Leu) c.202A>C (p.Ile68Leu) c.199A>C (p.Ile67Leu) n.609A>C n.561A>C | |
| 9 | g.91298056T= | CA1863721507 | AUH | c.526A= (p.Ile176=) c.439A= (p.Ile147=) n.686A= c.556A= (p.Ile186=) c.64A= (p.Ile22=) c.469A= (p.Ile157=) c.202A= (p.Ile68=) c.199A= (p.Ile67=) n.609A= n.561A= | |
| 9 | g.91298057T>A | CA466223535 | AUH | c.525A>T (p.Thr175=) c.438A>T (p.Thr146=) n.685A>T c.555A>T (p.Thr185=) c.63A>T (p.Thr21=) c.468A>T (p.Thr156=) c.201A>T (p.Thr67=) c.198A>T (p.Thr66=) n.608A>T n.560A>T | |
| 9 | g.91298057T>C | CA466223536 | AUH | c.525A>G (p.Thr175=) c.438A>G (p.Thr146=) n.685A>G c.555A>G (p.Thr185=) c.63A>G (p.Thr21=) c.468A>G (p.Thr156=) c.201A>G (p.Thr67=) c.198A>G (p.Thr66=) n.608A>G n.560A>G | gnomAD v4 |
| 9 | g.91298057T>G | CA466223537 | AUH | c.525A>C (p.Thr175=) c.438A>C (p.Thr146=) n.685A>C c.555A>C (p.Thr185=) c.63A>C (p.Thr21=) c.468A>C (p.Thr156=) c.201A>C (p.Thr67=) c.198A>C (p.Thr66=) n.608A>C n.560A>C | |
| 9 | g.91298058G>A | CA373836979 | AUH | c.524C>T (p.Thr175Ile) c.437C>T (p.Thr146Ile) n.684C>T c.554C>T (p.Thr185Ile) c.62C>T (p.Thr21Ile) c.467C>T (p.Thr156Ile) c.200C>T (p.Thr67Ile) c.197C>T (p.Thr66Ile) n.607C>T n.559C>T | |
| 9 | g.91298058G>C | CA373836981 | AUH | c.524C>G (p.Thr175Arg) c.437C>G (p.Thr146Arg) n.684C>G c.554C>G (p.Thr185Arg) c.62C>G (p.Thr21Arg) c.467C>G (p.Thr156Arg) c.200C>G (p.Thr67Arg) c.197C>G (p.Thr66Arg) n.607C>G n.559C>G | |
| 9 | g.91298058G= | CA1863721508 | AUH | c.524C= (p.Thr175=) c.437C= (p.Thr146=) n.684C= c.554C= (p.Thr185=) c.62C= (p.Thr21=) c.467C= (p.Thr156=) c.200C= (p.Thr67=) c.197C= (p.Thr66=) n.607C= n.559C= | |
| 9 | g.91298058G>T | CA373836980 | AUH | c.524C>A (p.Thr175Lys) c.437C>A (p.Thr146Lys) n.684C>A c.554C>A (p.Thr185Lys) c.62C>A (p.Thr21Lys) c.467C>A (p.Thr156Lys) c.200C>A (p.Thr67Lys) c.197C>A (p.Thr66Lys) n.607C>A n.559C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91298059T>A | CA373836982 | AUH | c.523A>T (p.Thr175Ser) c.436A>T (p.Thr146Ser) n.683A>T c.553A>T (p.Thr185Ser) c.61A>T (p.Thr21Ser) c.466A>T (p.Thr156Ser) c.199A>T (p.Thr67Ser) c.196A>T (p.Thr66Ser) n.606A>T n.558A>T | |
| 9 | g.91298059T>C | CA373836983 | AUH | c.523A>G (p.Thr175Ala) c.436A>G (p.Thr146Ala) n.683A>G c.553A>G (p.Thr185Ala) c.61A>G (p.Thr21Ala) c.466A>G (p.Thr156Ala) c.199A>G (p.Thr67Ala) c.196A>G (p.Thr66Ala) n.606A>G n.558A>G | gnomAD v4 |
| 9 | g.91298059T>G | CA373836984 | AUH | c.523A>C (p.Thr175Pro) c.436A>C (p.Thr146Pro) n.683A>C c.553A>C (p.Thr185Pro) c.61A>C (p.Thr21Pro) c.466A>C (p.Thr156Pro) c.199A>C (p.Thr67Pro) c.196A>C (p.Thr66Pro) n.606A>C n.558A>C | |
| 9 | g.91298060T>A | CA466223549 | AUH | c.522A>T (p.Pro174=) c.435A>T (p.Pro145=) n.682A>T c.552A>T (p.Pro184=) c.60A>T (p.Pro20=) c.465A>T (p.Pro155=) c.198A>T (p.Pro66=) c.195A>T (p.Pro65=) n.605A>T n.557A>T | |
| 9 | g.91298060T>C | CA466223551 | AUH | c.522A>G (p.Pro174=) c.435A>G (p.Pro145=) n.682A>G c.552A>G (p.Pro184=) c.60A>G (p.Pro20=) c.465A>G (p.Pro155=) c.198A>G (p.Pro66=) c.195A>G (p.Pro65=) n.605A>G n.557A>G | |
| 9 | g.91298060T>G | CA466223547 | AUH | c.522A>C (p.Pro174=) c.435A>C (p.Pro145=) n.682A>C c.552A>C (p.Pro184=) c.60A>C (p.Pro20=) c.465A>C (p.Pro155=) c.198A>C (p.Pro66=) c.195A>C (p.Pro65=) n.605A>C n.557A>C | |
| 9 | g.91298061G>A | CA373836985 | AUH | c.521C>T (p.Pro174Leu) c.434C>T (p.Pro145Leu) n.681C>T c.551C>T (p.Pro184Leu) c.59C>T (p.Pro20Leu) c.464C>T (p.Pro155Leu) c.197C>T (p.Pro66Leu) c.194C>T (p.Pro65Leu) n.604C>T n.556C>T | gnomAD v4 |
| 9 | g.91298061G>C | CA373836986 | AUH | c.521C>G (p.Pro174Arg) c.434C>G (p.Pro145Arg) n.681C>G c.551C>G (p.Pro184Arg) c.59C>G (p.Pro20Arg) c.464C>G (p.Pro155Arg) c.197C>G (p.Pro66Arg) c.194C>G (p.Pro65Arg) n.604C>G n.556C>G | |
| 9 | g.91298061G>T | CA373836987 | AUH | c.521C>A (p.Pro174Gln) c.434C>A (p.Pro145Gln) n.681C>A c.551C>A (p.Pro184Gln) c.59C>A (p.Pro20Gln) c.464C>A (p.Pro155Gln) c.197C>A (p.Pro66Gln) c.194C>A (p.Pro65Gln) n.604C>A n.556C>A | |
| 9 | g.91298062G>A | CA373836988 | AUH | c.520C>T (p.Pro174Ser) c.433C>T (p.Pro145Ser) n.680C>T c.550C>T (p.Pro184Ser) c.58C>T (p.Pro20Ser) c.463C>T (p.Pro155Ser) c.196C>T (p.Pro66Ser) c.193C>T (p.Pro65Ser) n.603C>T n.555C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298062G>C | CA373836989 | AUH | c.520C>G (p.Pro174Ala) c.433C>G (p.Pro145Ala) n.680C>G c.550C>G (p.Pro184Ala) c.58C>G (p.Pro20Ala) c.463C>G (p.Pro155Ala) c.196C>G (p.Pro66Ala) c.193C>G (p.Pro65Ala) n.603C>G n.555C>G | |
| 9 | g.91298062G= | CA1863721509 | AUH | c.520C= (p.Pro174=) c.433C= (p.Pro145=) n.680C= c.550C= (p.Pro184=) c.58C= (p.Pro20=) c.463C= (p.Pro155=) c.196C= (p.Pro66=) c.193C= (p.Pro65=) n.603C= n.555C= | |
| 9 | g.91298062G>T | CA373836990 | AUH | c.520C>A (p.Pro174Thr) c.433C>A (p.Pro145Thr) n.680C>A c.550C>A (p.Pro184Thr) c.58C>A (p.Pro20Thr) c.463C>A (p.Pro155Thr) c.196C>A (p.Pro66Thr) c.193C>A (p.Pro65Thr) n.603C>A n.555C>A | |
| 9 | g.91298063T>A | CA466223563 | AUH | c.519A>T (p.Val173=) c.432A>T (p.Val144=) n.679A>T c.549A>T (p.Val183=) c.57A>T (p.Val19=) c.462A>T (p.Val154=) c.195A>T (p.Val65=) c.192A>T (p.Val64=) n.602A>T n.554A>T | |
| 9 | g.91298063T>C | CA466223560 | AUH | c.519A>G (p.Val173=) c.432A>G (p.Val144=) n.679A>G c.549A>G (p.Val183=) c.57A>G (p.Val19=) c.462A>G (p.Val154=) c.195A>G (p.Val65=) c.192A>G (p.Val64=) n.602A>G n.554A>G | |
| 9 | g.91298063T>G | CA466223562 | AUH | c.519A>C (p.Val173=) c.432A>C (p.Val144=) n.679A>C c.549A>C (p.Val183=) c.57A>C (p.Val19=) c.462A>C (p.Val154=) c.195A>C (p.Val65=) c.192A>C (p.Val64=) n.602A>C n.554A>C | |
| 9 | g.91298064A>C | CA373836991 | AUH | c.518T>G (p.Val173Gly) c.431T>G (p.Val144Gly) n.678T>G c.548T>G (p.Val183Gly) c.56T>G (p.Val19Gly) c.461T>G (p.Val154Gly) c.194T>G (p.Val65Gly) c.191T>G (p.Val64Gly) n.601T>G n.553T>G | |
| 9 | g.91298064A>G | CA373836992 | AUH | c.518T>C (p.Val173Ala) c.431T>C (p.Val144Ala) n.678T>C c.548T>C (p.Val183Ala) c.56T>C (p.Val19Ala) c.461T>C (p.Val154Ala) c.194T>C (p.Val65Ala) c.191T>C (p.Val64Ala) n.601T>C n.553T>C | |
| 9 | g.91298064A>T | CA373836993 | AUH | c.518T>A (p.Val173Glu) c.431T>A (p.Val144Glu) n.678T>A c.548T>A (p.Val183Glu) c.56T>A (p.Val19Glu) c.461T>A (p.Val154Glu) c.194T>A (p.Val65Glu) c.191T>A (p.Val64Glu) n.601T>A n.553T>A | |
| 9 | g.91298065C>A | CA373836996 | AUH | c.517G>T (p.Val173Leu) c.430G>T (p.Val144Leu) n.677G>T c.547G>T (p.Val183Leu) c.55G>T (p.Val19Leu) c.460G>T (p.Val154Leu) c.193G>T (p.Val65Leu) c.190G>T (p.Val64Leu) n.600G>T n.552G>T | |
| 9 | g.91298065C>G | CA373836994 | AUH | c.517G>C (p.Val173Leu) c.430G>C (p.Val144Leu) n.677G>C c.547G>C (p.Val183Leu) c.55G>C (p.Val19Leu) c.460G>C (p.Val154Leu) c.193G>C (p.Val65Leu) c.190G>C (p.Val64Leu) n.600G>C n.552G>C | |
| 9 | g.91298065C>T | CA373836995 | AUH | c.517G>A (p.Val173Ile) c.430G>A (p.Val144Ile) n.677G>A c.547G>A (p.Val183Ile) c.55G>A (p.Val19Ile) c.460G>A (p.Val154Ile) c.193G>A (p.Val65Ile) c.190G>A (p.Val64Ile) n.600G>A n.552G>A | |
| 9 | g.91298066T>A | CA466223572 | AUH | c.516A>T (p.Pro172=) c.429A>T (p.Pro143=) n.676A>T c.546A>T (p.Pro182=) c.54A>T (p.Pro18=) c.459A>T (p.Pro153=) c.192A>T (p.Pro64=) c.189A>T (p.Pro63=) n.599A>T n.551A>T | |
| 9 | g.91298066T>C | CA466223575 | AUH | c.516A>G (p.Pro172=) c.429A>G (p.Pro143=) n.676A>G c.546A>G (p.Pro182=) c.54A>G (p.Pro18=) c.459A>G (p.Pro153=) c.192A>G (p.Pro64=) c.189A>G (p.Pro63=) n.599A>G n.551A>G | |
| 9 | g.91298066T>G | CA466223574 | AUH | c.516A>C (p.Pro172=) c.429A>C (p.Pro143=) n.676A>C c.546A>C (p.Pro182=) c.54A>C (p.Pro18=) c.459A>C (p.Pro153=) c.192A>C (p.Pro64=) c.189A>C (p.Pro63=) n.599A>C n.551A>C | |
| 9 | g.91298066dup | CA2690631043 | AUH | c.516dup (p.Val173SerfsTer17) c.429dup (p.Val144SerfsTer17) n.676dup c.546dup (p.Val183SerfsTer17) c.54dup (p.Val19SerfsTer17) c.459dup (p.Val154SerfsTer17) c.192dup (p.Val65SerfsTer17) c.189dup (p.Val64SerfsTer17) n.599dup n.551dup | ClinVar gnomAD v4 |
| 9 | g.91298067G>A | CA373836997 | AUH | c.515C>T (p.Pro172Leu) c.428C>T (p.Pro143Leu) n.675C>T c.545C>T (p.Pro182Leu) c.53C>T (p.Pro18Leu) c.458C>T (p.Pro153Leu) c.191C>T (p.Pro64Leu) c.188C>T (p.Pro63Leu) n.598C>T n.550C>T | gnomAD v4 |
| 9 | g.91298067G>C | CA373836998 | AUH | c.515C>G (p.Pro172Arg) c.428C>G (p.Pro143Arg) n.675C>G c.545C>G (p.Pro182Arg) c.53C>G (p.Pro18Arg) c.458C>G (p.Pro153Arg) c.191C>G (p.Pro64Arg) c.188C>G (p.Pro63Arg) n.598C>G n.550C>G | |
| 9 | g.91298067G>T | CA373836999 | AUH | c.515C>A (p.Pro172Gln) c.428C>A (p.Pro143Gln) n.675C>A c.545C>A (p.Pro182Gln) c.53C>A (p.Pro18Gln) c.458C>A (p.Pro153Gln) c.191C>A (p.Pro64Gln) c.188C>A (p.Pro63Gln) n.598C>A n.550C>A | |
| 9 | g.91298068G>A | CA373837000 | AUH | c.514C>T (p.Pro172Ser) c.427C>T (p.Pro143Ser) n.674C>T c.544C>T (p.Pro182Ser) c.52C>T (p.Pro18Ser) c.457C>T (p.Pro153Ser) c.190C>T (p.Pro64Ser) c.187C>T (p.Pro63Ser) n.597C>T n.549C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298068G>C | CA373837001 | AUH | c.514C>G (p.Pro172Ala) c.427C>G (p.Pro143Ala) n.674C>G c.544C>G (p.Pro182Ala) c.52C>G (p.Pro18Ala) c.457C>G (p.Pro153Ala) c.190C>G (p.Pro64Ala) c.187C>G (p.Pro63Ala) n.597C>G n.549C>G | gnomAD v4 |
| 9 | g.91298068G= | CA1863721510 | AUH | c.514C= (p.Pro172=) c.427C= (p.Pro143=) n.674C= c.544C= (p.Pro182=) c.52C= (p.Pro18=) c.457C= (p.Pro153=) c.190C= (p.Pro64=) c.187C= (p.Pro63=) n.597C= n.549C= | |
| 9 | g.91298068G>T | CA373837002 | AUH | c.514C>A (p.Pro172Thr) c.427C>A (p.Pro143Thr) n.674C>A c.544C>A (p.Pro182Thr) c.52C>A (p.Pro18Thr) c.457C>A (p.Pro153Thr) c.190C>A (p.Pro64Thr) c.187C>A (p.Pro63Thr) n.597C>A n.549C>A | |
| 9 | g.91298069A>C | CA466223585 | AUH | c.513T>G (p.Leu171=) c.426T>G (p.Leu142=) n.673T>G c.543T>G (p.Leu181=) c.51T>G (p.Leu17=) c.456T>G (p.Leu152=) c.189T>G (p.Leu63=) c.186T>G (p.Leu62=) n.596T>G n.548T>G | |
| 9 | g.91298069A>G | CA466223586 | AUH | c.513T>C (p.Leu171=) c.426T>C (p.Leu142=) n.673T>C c.543T>C (p.Leu181=) c.51T>C (p.Leu17=) c.456T>C (p.Leu152=) c.189T>C (p.Leu63=) c.186T>C (p.Leu62=) n.596T>C n.548T>C | |
| 9 | g.91298069A>T | CA466223588 | AUH | c.513T>A (p.Leu171=) c.426T>A (p.Leu142=) n.673T>A c.543T>A (p.Leu181=) c.51T>A (p.Leu17=) c.456T>A (p.Leu152=) c.189T>A (p.Leu63=) c.186T>A (p.Leu62=) n.596T>A n.548T>A | |
| 9 | g.91298070A>C | CA373837003 | AUH | c.512T>G (p.Leu171Arg) c.425T>G (p.Leu142Arg) n.672T>G c.542T>G (p.Leu181Arg) c.50T>G (p.Leu17Arg) c.455T>G (p.Leu152Arg) c.188T>G (p.Leu63Arg) c.185T>G (p.Leu62Arg) n.595T>G n.547T>G | |
| 9 | g.91298070A>G | CA373837004 | AUH | c.512T>C (p.Leu171Pro) c.425T>C (p.Leu142Pro) n.672T>C c.542T>C (p.Leu181Pro) c.50T>C (p.Leu17Pro) c.455T>C (p.Leu152Pro) c.188T>C (p.Leu63Pro) c.185T>C (p.Leu62Pro) n.595T>C n.547T>C | |
| 9 | g.91298070A>T | CA373837005 | AUH | c.512T>A (p.Leu171His) c.425T>A (p.Leu142His) n.672T>A c.542T>A (p.Leu181His) c.50T>A (p.Leu17His) c.455T>A (p.Leu152His) c.188T>A (p.Leu63His) c.185T>A (p.Leu62His) n.595T>A n.547T>A | |
| 9 | g.91298071G>A | CA373837006 | AUH | c.511C>T (p.Leu171Phe) c.424C>T (p.Leu142Phe) n.671C>T c.541C>T (p.Leu181Phe) c.49C>T (p.Leu17Phe) c.454C>T (p.Leu152Phe) c.187C>T (p.Leu63Phe) c.184C>T (p.Leu62Phe) n.594C>T n.546C>T | gnomAD v4 |
| 9 | g.91298071G>C | CA373837007 | AUH | c.511C>G (p.Leu171Val) c.424C>G (p.Leu142Val) n.671C>G c.541C>G (p.Leu181Val) c.49C>G (p.Leu17Val) c.454C>G (p.Leu152Val) c.187C>G (p.Leu63Val) c.184C>G (p.Leu62Val) n.594C>G n.546C>G | |
| 9 | g.91298071G>T | CA373837008 | AUH | c.511C>A (p.Leu171Ile) c.424C>A (p.Leu142Ile) n.671C>A c.541C>A (p.Leu181Ile) c.49C>A (p.Leu17Ile) c.454C>A (p.Leu152Ile) c.187C>A (p.Leu63Ile) c.184C>A (p.Leu62Ile) n.594C>A n.546C>A | |
| 9 | g.91298072A= | CA1863721511 | AUH | c.510T= (p.Asn170=) c.423T= (p.Asn141=) n.670T= c.540T= (p.Asn180=) c.48T= (p.Asn16=) c.453T= (p.Asn151=) c.186T= (p.Asn62=) c.183T= (p.Asn61=) n.593T= n.545T= | |
| 9 | g.91298072A>C | CA373837009 | AUH | c.510T>G (p.Asn170Lys) c.423T>G (p.Asn141Lys) n.670T>G c.540T>G (p.Asn180Lys) c.48T>G (p.Asn16Lys) c.453T>G (p.Asn151Lys) c.186T>G (p.Asn62Lys) c.183T>G (p.Asn61Lys) n.593T>G n.545T>G | |
| 9 | g.91298072A>G | CA466223597 | AUH | c.510T>C (p.Asn170=) c.423T>C (p.Asn141=) n.670T>C c.540T>C (p.Asn180=) c.48T>C (p.Asn16=) c.453T>C (p.Asn151=) c.186T>C (p.Asn62=) c.183T>C (p.Asn61=) n.593T>C n.545T>C | dbSNP |
| 9 | g.91298072A>T | CA373837010 | AUH | c.510T>A (p.Asn170Lys) c.423T>A (p.Asn141Lys) n.670T>A c.540T>A (p.Asn180Lys) c.48T>A (p.Asn16Lys) c.453T>A (p.Asn151Lys) c.186T>A (p.Asn62Lys) c.183T>A (p.Asn61Lys) n.593T>A n.545T>A | |
| 9 | g.91298073T>A | CA373837011 | AUH | c.509A>T (p.Asn170Ile) c.422A>T (p.Asn141Ile) n.669A>T c.539A>T (p.Asn180Ile) c.47A>T (p.Asn16Ile) c.452A>T (p.Asn151Ile) c.185A>T (p.Asn62Ile) c.182A>T (p.Asn61Ile) n.592A>T n.544A>T | |
| 9 | g.91298073T>C | CA373837012 | AUH | c.509A>G (p.Asn170Ser) c.422A>G (p.Asn141Ser) n.669A>G c.539A>G (p.Asn180Ser) c.47A>G (p.Asn16Ser) c.452A>G (p.Asn151Ser) c.185A>G (p.Asn62Ser) c.182A>G (p.Asn61Ser) n.592A>G n.544A>G | |
| 9 | g.91298073T>G | CA373837013 | AUH | c.509A>C (p.Asn170Thr) c.422A>C (p.Asn141Thr) n.669A>C c.539A>C (p.Asn180Thr) c.47A>C (p.Asn16Thr) c.452A>C (p.Asn151Thr) c.185A>C (p.Asn62Thr) c.182A>C (p.Asn61Thr) n.592A>C n.544A>C | |
| 9 | g.91298074T>A | CA373837014 | AUH | c.508A>T (p.Asn170Tyr) c.421A>T (p.Asn141Tyr) n.668A>T c.538A>T (p.Asn180Tyr) c.46A>T (p.Asn16Tyr) c.451A>T (p.Asn151Tyr) c.184A>T (p.Asn62Tyr) c.181A>T (p.Asn61Tyr) n.591A>T n.543A>T | |
| 9 | g.91298074T>C | CA373837015 | AUH | c.508A>G (p.Asn170Asp) c.421A>G (p.Asn141Asp) n.668A>G c.538A>G (p.Asn180Asp) c.46A>G (p.Asn16Asp) c.451A>G (p.Asn151Asp) c.184A>G (p.Asn62Asp) c.181A>G (p.Asn61Asp) n.591A>G n.543A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91298074T>G | CA373837016 | AUH | c.508A>C (p.Asn170His) c.421A>C (p.Asn141His) n.668A>C c.538A>C (p.Asn180His) c.46A>C (p.Asn16His) c.451A>C (p.Asn151His) c.184A>C (p.Asn62His) c.181A>C (p.Asn61His) n.591A>C n.543A>C | |
| 9 | g.91298074T= | CA1863721512 | AUH | c.508A= (p.Asn170=) c.421A= (p.Asn141=) n.668A= c.538A= (p.Asn180=) c.46A= (p.Asn16=) c.451A= (p.Asn151=) c.184A= (p.Asn62=) c.181A= (p.Asn61=) n.591A= n.543A= | |
| 9 | g.91298075A>C | CA466223608 | AUH | c.507T>G (p.Ala169=) c.420T>G (p.Ala140=) n.667T>G c.537T>G (p.Ala179=) c.45T>G (p.Thr15=) c.450T>G (p.Ala150=) c.183T>G (p.Ala61=) c.180T>G (p.Ala60=) n.590T>G n.542T>G | |
| 9 | g.91298075A>G | CA466223610 | AUH | c.507T>C (p.Ala169=) c.420T>C (p.Ala140=) n.667T>C c.537T>C (p.Ala179=) c.45T>C (p.Thr15=) c.450T>C (p.Ala150=) c.183T>C (p.Ala61=) c.180T>C (p.Ala60=) n.590T>C n.542T>C | |
| 9 | g.91298075A>T | CA466223612 | AUH | c.507T>A (p.Ala169=) c.420T>A (p.Ala140=) n.667T>A c.537T>A (p.Ala179=) c.45T>A (p.Thr15=) c.450T>A (p.Ala150=) c.183T>A (p.Ala61=) c.180T>A (p.Ala60=) n.590T>A n.542T>A | |
| 9 | g.91298076G>A | CA373837017 | AUH | c.506C>T (p.Ala169Val) c.419C>T (p.Ala140Val) n.666C>T c.536C>T (p.Ala179Val) c.44C>T (p.Thr15Ile) c.449C>T (p.Ala150Val) c.182C>T (p.Ala61Val) c.179C>T (p.Ala60Val) n.589C>T n.541C>T | |
| 9 | g.91298076G>C | CA373837018 | AUH | c.506C>G (p.Ala169Gly) c.419C>G (p.Ala140Gly) n.666C>G c.536C>G (p.Ala179Gly) c.44C>G (p.Thr15Ser) c.449C>G (p.Ala150Gly) c.182C>G (p.Ala61Gly) c.179C>G (p.Ala60Gly) n.589C>G n.541C>G | |
| 9 | g.91298076G>T | CA373837019 | AUH | c.506C>A (p.Ala169Asp) c.419C>A (p.Ala140Asp) n.666C>A c.536C>A (p.Ala179Asp) c.44C>A (p.Thr15Asn) c.449C>A (p.Ala150Asp) c.182C>A (p.Ala61Asp) c.179C>A (p.Ala60Asp) n.589C>A n.541C>A | |
| 9 | g.91298077C>A | CA373837020 | AUH | c.506-1G>T (n.506-1G>T) c.419-1G>T (n.419-1G>T) n.666-1G>T c.536-1G>T (n.536-1G>T) c.44-1G>T (n.44-1G>T) c.449-1G>T (n.449-1G>T) c.182-1G>T (n.182-1G>T) c.179-1G>T (n.179-1G>T) n.589-1G>T n.541-1G>T | |
| 9 | g.91298077C>G | CA373837021 | AUH | c.506-1G>C (n.506-1G>C) c.419-1G>C (n.419-1G>C) n.666-1G>C c.536-1G>C (n.536-1G>C) c.44-1G>C (n.44-1G>C) c.449-1G>C (n.449-1G>C) c.182-1G>C (n.182-1G>C) c.179-1G>C (n.179-1G>C) n.589-1G>C n.541-1G>C | |
| 9 | g.91298077C>T | CA373837022 | AUH | c.506-1G>A (n.506-1G>A) c.419-1G>A (n.419-1G>A) n.666-1G>A c.536-1G>A (n.536-1G>A) c.44-1G>A (n.44-1G>A) c.449-1G>A (n.449-1G>A) c.182-1G>A (n.182-1G>A) c.179-1G>A (n.179-1G>A) n.589-1G>A n.541-1G>A | |
| 9 | g.91298077_91298078insAGG | CA2785066509 | AUH | c.506-2_506-1insCCT (n.506-2_506-1insCCT) c.419-2_419-1insCCT (n.419-2_419-1insCCT) n.666-2_666-1insCCT c.536-2_536-1insCCT (n.536-2_536-1insCCT) c.44-2_44-1insCCT (n.44-2_44-1insCCT) c.449-2_449-1insCCT (n.449-2_449-1insCCT) c.182-2_182-1insCCT (n.182-2_182-1insCCT) c.179-2_179-1insCCT (n.179-2_179-1insCCT) n.589-2_589-1insCCT n.541-2_541-1insCCT | |
| 9 | g.91298078T>A | CA373837025 | AUH | c.506-2A>T (n.506-2A>T) c.419-2A>T (n.419-2A>T) n.666-2A>T c.536-2A>T (n.536-2A>T) c.44-2A>T (n.44-2A>T) c.449-2A>T (n.449-2A>T) c.182-2A>T (n.182-2A>T) c.179-2A>T (n.179-2A>T) n.589-2A>T n.541-2A>T | |
| 9 | g.91298078T>C | CA373837024 | AUH | c.506-2A>G (n.506-2A>G) c.419-2A>G (n.419-2A>G) n.666-2A>G c.536-2A>G (n.536-2A>G) c.44-2A>G (n.44-2A>G) c.449-2A>G (n.449-2A>G) c.182-2A>G (n.182-2A>G) c.179-2A>G (n.179-2A>G) n.589-2A>G n.541-2A>G | |
| 9 | g.91298078T>G | CA373837023 | AUH | c.506-2A>C (n.506-2A>C) c.419-2A>C (n.419-2A>C) n.666-2A>C c.536-2A>C (n.536-2A>C) c.44-2A>C (n.44-2A>C) c.449-2A>C (n.449-2A>C) c.182-2A>C (n.182-2A>C) c.179-2A>C (n.179-2A>C) n.589-2A>C n.541-2A>C | |
| 9 | g.91298079G>A | CA1863721514 | AUH | c.506-3C>T (n.506-3C>T) c.419-3C>T (n.419-3C>T) n.666-3C>T c.536-3C>T (n.536-3C>T) c.44-3C>T (n.44-3C>T) c.449-3C>T (n.449-3C>T) c.182-3C>T (n.182-3C>T) c.179-3C>T (n.179-3C>T) n.589-3C>T n.541-3C>T | dbSNP |
| 9 | g.91298079G= | CA1863721513 | AUH | c.506-3C= (n.506-3C=) c.419-3C= (n.419-3C=) n.666-3C= c.536-3C= (n.536-3C=) c.44-3C= (n.44-3C=) c.449-3C= (n.449-3C=) c.182-3C= (n.182-3C=) c.179-3C= (n.179-3C=) n.589-3C= n.541-3C= | |
| 9 | g.91298082A= | CA1863721515 | AUH | c.506-6T= (n.506-6T=) c.419-6T= (n.419-6T=) n.666-6T= c.536-6T= (n.536-6T=) c.44-6T= (n.44-6T=) c.449-6T= (n.449-6T=) c.182-6T= (n.182-6T=) c.179-6T= (n.179-6T=) n.589-6T= n.541-6T= | |
| 9 | g.91298082A>G | CA1863721516 | AUH | c.506-6T>C (n.506-6T>C) c.419-6T>C (n.419-6T>C) n.666-6T>C c.536-6T>C (n.536-6T>C) c.44-6T>C (n.44-6T>C) c.449-6T>C (n.449-6T>C) c.182-6T>C (n.182-6T>C) c.179-6T>C (n.179-6T>C) n.589-6T>C n.541-6T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.91298084G>A | CA2580080645 | AUH | c.506-8C>T (n.506-8C>T) c.419-8C>T (n.419-8C>T) n.666-8C>T c.536-8C>T (n.536-8C>T) c.44-8C>T (n.44-8C>T) c.449-8C>T (n.449-8C>T) c.182-8C>T (n.182-8C>T) c.179-8C>T (n.179-8C>T) n.589-8C>T n.541-8C>T | ClinVar |
| 9 | g.91298085G>A | CA5119823 | AUH | c.506-9C>T (n.506-9C>T) c.419-9C>T (n.419-9C>T) n.666-9C>T c.536-9C>T (n.536-9C>T) c.44-9C>T (n.44-9C>T) c.449-9C>T (n.449-9C>T) c.182-9C>T (n.182-9C>T) c.179-9C>T (n.179-9C>T) n.589-9C>T n.541-9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298085G= | CA1863721517 | AUH | c.506-9C= (n.506-9C=) c.419-9C= (n.419-9C=) n.666-9C= c.536-9C= (n.536-9C=) c.44-9C= (n.44-9C=) c.449-9C= (n.449-9C=) c.182-9C= (n.182-9C=) c.179-9C= (n.179-9C=) n.589-9C= n.541-9C= | |
| 9 | g.91298086A= | CA1863721518 | AUH | c.506-10T= (n.506-10T=) c.419-10T= (n.419-10T=) n.666-10T= c.536-10T= (n.536-10T=) c.44-10T= (n.44-10T=) c.449-10T= (n.449-10T=) c.182-10T= (n.182-10T=) c.179-10T= (n.179-10T=) n.589-10T= n.541-10T= | |
| 9 | g.91298086A>C | CA195909188 | AUH | c.506-10T>G (n.506-10T>G) c.419-10T>G (n.419-10T>G) n.666-10T>G c.536-10T>G (n.536-10T>G) c.44-10T>G (n.44-10T>G) c.449-10T>G (n.449-10T>G) c.182-10T>G (n.182-10T>G) c.179-10T>G (n.179-10T>G) n.589-10T>G n.541-10T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298086A>G | CA2690631045 | AUH | c.506-10T>C (n.506-10T>C) c.419-10T>C (n.419-10T>C) n.666-10T>C c.536-10T>C (n.536-10T>C) c.44-10T>C (n.44-10T>C) c.449-10T>C (n.449-10T>C) c.182-10T>C (n.182-10T>C) c.179-10T>C (n.179-10T>C) n.589-10T>C n.541-10T>C | gnomAD v4 |
| 9 | g.91298088del | CA2690631044 | AUH | c.506-10del (n.506-10del) c.419-10del (n.419-10del) n.666-10del c.536-10del (n.536-10del) c.44-10del (n.44-10del) c.449-10del (n.449-10del) c.182-10del (n.182-10del) c.179-10del (n.179-10del) n.589-10del n.541-10del | gnomAD v4 |
| 9 | g.91298087A>G | CA2579377787 | AUH | c.506-11T>C (n.506-11T>C) c.419-11T>C (n.419-11T>C) n.666-11T>C c.536-11T>C (n.536-11T>C) c.44-11T>C (n.44-11T>C) c.449-11T>C (n.449-11T>C) c.182-11T>C (n.182-11T>C) c.179-11T>C (n.179-11T>C) n.589-11T>C n.541-11T>C | |
| 9 | g.91298088A= | CA1863721519 | AUH | c.506-12T= (n.506-12T=) c.419-12T= (n.419-12T=) n.666-12T= c.536-12T= (n.536-12T=) c.44-12T= (n.44-12T=) c.449-12T= (n.449-12T=) c.182-12T= (n.182-12T=) c.179-12T= (n.179-12T=) n.589-12T= n.541-12T= | |
| 9 | g.91298088A>G | CA589433727 | AUH | c.506-12T>C (n.506-12T>C) c.419-12T>C (n.419-12T>C) n.666-12T>C c.536-12T>C (n.536-12T>C) c.44-12T>C (n.44-12T>C) c.449-12T>C (n.449-12T>C) c.182-12T>C (n.182-12T>C) c.179-12T>C (n.179-12T>C) n.589-12T>C n.541-12T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298089G>A | CA2690631046 | AUH | c.506-13C>T (n.506-13C>T) c.419-13C>T (n.419-13C>T) n.666-13C>T c.536-13C>T (n.536-13C>T) c.44-13C>T (n.44-13C>T) c.449-13C>T (n.449-13C>T) c.182-13C>T (n.182-13C>T) c.179-13C>T (n.179-13C>T) n.589-13C>T n.541-13C>T | gnomAD v4 |
| 9 | g.91298089G>T | CA2690631047 | AUH | c.506-13C>A (n.506-13C>A) c.419-13C>A (n.419-13C>A) n.666-13C>A c.536-13C>A (n.536-13C>A) c.44-13C>A (n.44-13C>A) c.449-13C>A (n.449-13C>A) c.182-13C>A (n.182-13C>A) c.179-13C>A (n.179-13C>A) n.589-13C>A n.541-13C>A | gnomAD v4 |
| 9 | g.91298089_91298090delinsGA | CA1863721520 | AUH | c.506-14_506-13delinsTC (n.506-14_506-13delinsTC) c.419-14_419-13delinsTC (n.419-14_419-13delinsTC) n.666-14_666-13delinsTC c.536-14_536-13delinsTC (n.536-14_536-13delinsTC) c.44-14_44-13delinsTC (n.44-14_44-13delinsTC) c.449-14_449-13delinsTC (n.449-14_449-13delinsTC) c.182-14_182-13delinsTC (n.182-14_182-13delinsTC) c.179-14_179-13delinsTC (n.179-14_179-13delinsTC) n.589-14_589-13delinsTC n.541-14_541-13delinsTC | |
| 9 | g.91298090A= | CA1863721521 | AUH | c.506-14T= (n.506-14T=) c.419-14T= (n.419-14T=) n.666-14T= c.536-14T= (n.536-14T=) c.44-14T= (n.44-14T=) c.449-14T= (n.449-14T=) c.182-14T= (n.182-14T=) c.179-14T= (n.179-14T=) n.589-14T= n.541-14T= | |
| 9 | g.91298090A>G | CA589433728 | AUH | c.506-14T>C (n.506-14T>C) c.419-14T>C (n.419-14T>C) n.666-14T>C c.536-14T>C (n.536-14T>C) c.44-14T>C (n.44-14T>C) c.449-14T>C (n.449-14T>C) c.182-14T>C (n.182-14T>C) c.179-14T>C (n.179-14T>C) n.589-14T>C n.541-14T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298093del | CA1126705332 | AUH | c.506-14del (n.506-14del) c.419-14del (n.419-14del) n.666-14del c.536-14del (n.536-14del) c.44-14del (n.44-14del) c.449-14del (n.449-14del) c.182-14del (n.182-14del) c.179-14del (n.179-14del) n.589-14del n.541-14del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91298092A= | CA1863721522 | AUH | c.506-16T= (n.506-16T=) c.419-16T= (n.419-16T=) n.666-16T= c.536-16T= (n.536-16T=) c.44-16T= (n.44-16T=) c.449-16T= (n.449-16T=) c.182-16T= (n.182-16T=) c.179-16T= (n.179-16T=) n.589-16T= n.541-16T= | |
| 9 | g.91298092A>G | CA195909190 | AUH | c.506-16T>C (n.506-16T>C) c.419-16T>C (n.419-16T>C) n.666-16T>C c.536-16T>C (n.536-16T>C) c.44-16T>C (n.44-16T>C) c.449-16T>C (n.449-16T>C) c.182-16T>C (n.182-16T>C) c.179-16T>C (n.179-16T>C) n.589-16T>C n.541-16T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91298093A>C | CA2690631048 | AUH | c.506-17T>G (n.506-17T>G) c.419-17T>G (n.419-17T>G) n.666-17T>G c.536-17T>G (n.536-17T>G) c.44-17T>G (n.44-17T>G) c.449-17T>G (n.449-17T>G) c.182-17T>G (n.182-17T>G) c.179-17T>G (n.179-17T>G) n.589-17T>G n.541-17T>G | gnomAD v4 |
| 9 | g.91298097del | CA2690631049 | AUH | c.506-18del (n.506-18del) c.419-18del (n.419-18del) n.666-18del c.536-18del (n.536-18del) c.44-18del (n.44-18del) c.449-18del (n.449-18del) c.182-18del (n.182-18del) c.179-18del (n.179-18del) n.589-18del n.541-18del | gnomAD v4 |
| 9 | g.91298095T>G | CA2690631050 | AUH | c.506-19A>C (n.506-19A>C) c.419-19A>C (n.419-19A>C) n.666-19A>C c.536-19A>C (n.536-19A>C) c.44-19A>C (n.44-19A>C) c.449-19A>C (n.449-19A>C) c.182-19A>C (n.182-19A>C) c.179-19A>C (n.179-19A>C) n.589-19A>C n.541-19A>C | gnomAD v4 |