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 |
|---|---|---|---|---|---|
| 6 | g.116882339C>A | CA817737397 | RFX6 | c.505-28C>A (n.505-28C>A) n.569-28C>A c.127-28C>A (n.127-28C>A) | dbSNP gnomAD v4 |
| 6 | g.116882339C= | CA1657429807 | RFX6 | c.505-28C= (n.505-28C=) n.569-28C= c.127-28C= (n.127-28C=) | |
| 6 | g.116882339C>T | CA3973038 | RFX6 | c.505-28C>T (n.505-28C>T) n.569-28C>T c.127-28C>T (n.127-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882340G>A | CA3973039 | RFX6 | c.505-27G>A (n.505-27G>A) n.569-27G>A c.127-27G>A (n.127-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882340G= | CA1657429808 | RFX6 | c.505-27G= (n.505-27G=) n.569-27G= c.127-27G= (n.127-27G=) | |
| 6 | g.116882340G>T | CA2680129509 | RFX6 | c.505-27G>T (n.505-27G>T) n.569-27G>T c.127-27G>T (n.127-27G>T) | gnomAD v4 |
| 6 | g.116882341C>A | CA2680129510 | RFX6 | c.505-26C>A (n.505-26C>A) n.569-26C>A c.127-26C>A (n.127-26C>A) | gnomAD v4 |
| 6 | g.116882341C= | CA1657429809 | RFX6 | c.505-26C= (n.505-26C=) n.569-26C= c.127-26C= (n.127-26C=) | |
| 6 | g.116882341C>G | CA1657429810 | RFX6 | c.505-26C>G (n.505-26C>G) n.569-26C>G c.127-26C>G (n.127-26C>G) | dbSNP |
| 6 | g.116882342del | CA2578723027 | RFX6 | c.505-25del (n.505-25del) n.569-25del c.127-25del (n.127-25del) | |
| 6 | g.116882342C>T | CA2680129511 | RFX6 | c.505-25C>T (n.505-25C>T) n.569-25C>T c.127-25C>T (n.127-25C>T) | gnomAD v4 |
| 6 | g.116882343T>C | CA2680129512 | RFX6 | c.505-24T>C (n.505-24T>C) n.569-24T>C c.127-24T>C (n.127-24T>C) | gnomAD v4 |
| 6 | g.116882344A= | CA1657429811 | RFX6 | c.505-23A= (n.505-23A=) n.569-23A= c.127-23A= (n.127-23A=) | |
| 6 | g.116882344A>T | CA145941725 | RFX6 | c.505-23A>T (n.505-23A>T) n.569-23A>T c.127-23A>T (n.127-23A>T) | dbSNP gnomAD v4 |
| 6 | g.116882345A>G | CA2578723028 | RFX6 | c.505-22A>G (n.505-22A>G) n.569-22A>G c.127-22A>G (n.127-22A>G) | |
| 6 | g.116882347G>A | CA1657429813 | RFX6 | c.505-20G>A (n.505-20G>A) n.569-20G>A c.127-20G>A (n.127-20G>A) | dbSNP |
| 6 | g.116882347G= | CA1657429812 | RFX6 | c.505-20G= (n.505-20G=) n.569-20G= c.127-20G= (n.127-20G=) | |
| 6 | g.116882348T>C | CA3973040 | RFX6 | c.505-19T>C (n.505-19T>C) n.569-19T>C c.127-19T>C (n.127-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116882348T= | CA1657429814 | RFX6 | c.505-19T= (n.505-19T=) n.569-19T= c.127-19T= (n.127-19T=) | |
| 6 | g.116882349A>G | CA2680129513 | RFX6 | c.505-18A>G (n.505-18A>G) n.569-18A>G c.127-18A>G (n.127-18A>G) | gnomAD v4 |
| 6 | g.116882350A>G | CA2680129514 | RFX6 | c.505-17A>G (n.505-17A>G) n.569-17A>G c.127-17A>G (n.127-17A>G) | gnomAD v4 |
| 6 | g.116882353A>G | CA2772747129 | RFX6 | c.505-14A>G (n.505-14A>G) n.569-14A>G c.127-14A>G (n.127-14A>G) | |
| 6 | g.116882353A>T | CA2680129515 | RFX6 | c.505-14A>T (n.505-14A>T) n.569-14A>T c.127-14A>T (n.127-14A>T) | gnomAD v4 |
| 6 | g.116882354T>A | CA2578723030 | RFX6 | c.505-13T>A (n.505-13T>A) n.569-13T>A c.127-13T>A (n.127-13T>A) | |
| 6 | g.116882354T>C | CA145941726 | RFX6 | c.505-13T>C (n.505-13T>C) n.569-13T>C c.127-13T>C (n.127-13T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882354T= | CA1657429815 | RFX6 | c.505-13T= (n.505-13T=) n.569-13T= c.127-13T= (n.127-13T=) | |
| 6 | g.116882355_116882357del | CA2578723029 | RFX6 | c.505-12_505-10del (n.505-12_505-10del) n.569-12_569-10del c.127-12_127-10del (n.127-12_127-10del) | |
| 6 | g.116882355C>T | CA2680129516 | RFX6 | c.505-12C>T (n.505-12C>T) n.569-12C>T c.127-12C>T (n.127-12C>T) | gnomAD v4 |
| 6 | g.116882356T>G | CA1657429817 | RFX6 | c.505-11T>G (n.505-11T>G) n.569-11T>G c.127-11T>G (n.127-11T>G) | dbSNP gnomAD v4 |
| 6 | g.116882356T= | CA1657429816 | RFX6 | c.505-11T= (n.505-11T=) n.569-11T= c.127-11T= (n.127-11T=) | |
| 6 | g.116882357T>C | CA3973041 | RFX6 | c.505-10T>C (n.505-10T>C) n.569-10T>C c.127-10T>C (n.127-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116882357T>G | CA1657429819 | RFX6 | c.505-10T>G (n.505-10T>G) n.569-10T>G c.127-10T>G (n.127-10T>G) | dbSNP |
| 6 | g.116882357T= | CA1657429818 | RFX6 | c.505-10T= (n.505-10T=) n.569-10T= c.127-10T= (n.127-10T=) | |
| 6 | g.116882358T>C | CA3973042 | RFX6 | c.505-9T>C (n.505-9T>C) n.569-9T>C c.127-9T>C (n.127-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882358T= | CA1657429820 | RFX6 | c.505-9T= (n.505-9T=) n.569-9T= c.127-9T= (n.127-9T=) | |
| 6 | g.116882362T>C | CA2535239804 | RFX6 | c.505-5T>C (n.505-5T>C) n.569-5T>C c.127-5T>C (n.127-5T>C) | |
| 6 | g.116882364T>C | CA145941733 | RFX6 | c.505-3T>C (n.505-3T>C) n.569-3T>C c.127-3T>C (n.127-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882364T= | CA1657429821 | RFX6 | c.505-3T= (n.505-3T=) n.569-3T= c.127-3T= (n.127-3T=) | |
| 6 | g.116882365A>C | CA365427944 | RFX6 | c.505-2A>C (n.505-2A>C) n.569-2A>C c.127-2A>C (n.127-2A>C) | |
| 6 | g.116882365A>G | CA365427942 | RFX6 | c.505-2A>G (n.505-2A>G) n.569-2A>G c.127-2A>G (n.127-2A>G) | |
| 6 | g.116882365A>T | CA365427940 | RFX6 | c.505-2A>T (n.505-2A>T) n.569-2A>T c.127-2A>T (n.127-2A>T) | |
| 6 | g.116882365dup | CA1093561011 | RFX6 | c.505-2dup (n.505-2dup) n.569-2dup c.127-2dup (n.127-2dup) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116882366G>A | CA365427946 | RFX6 | c.505-1G>A (n.505-1G>A) n.569-1G>A c.127-1G>A (n.127-1G>A) | |
| 6 | g.116882366G>C | CA365427947 | RFX6 | c.505-1G>C (n.505-1G>C) n.569-1G>C c.127-1G>C (n.127-1G>C) | |
| 6 | g.116882366G>T | CA365427949 | RFX6 | c.505-1G>T (n.505-1G>T) n.569-1G>T c.127-1G>T (n.127-1G>T) | |
| 6 | g.116882367A>C | CA365427950 | RFX6 | c.505A>C (p.Thr169Pro) n.569A>C c.127A>C (p.Thr43Pro) | |
| 6 | g.116882367A>G | CA365427952 | RFX6 | c.505A>G (p.Thr169Ala) n.569A>G c.127A>G (p.Thr43Ala) | |
| 6 | g.116882367A>T | CA365427953 | RFX6 | c.505A>T (p.Thr169Ser) n.569A>T c.127A>T (p.Thr43Ser) | |
| 6 | g.116882368C>A | CA365427955 | RFX6 | c.506C>A (p.Thr169Lys) n.570C>A c.128C>A (p.Thr43Lys) | |
| 6 | g.116882368C>G | CA365427958 | RFX6 | c.506C>G (p.Thr169Arg) n.570C>G c.128C>G (p.Thr43Arg) | |
| 6 | g.116882368C>T | CA365427956 | RFX6 | c.506C>T (p.Thr169Ile) n.570C>T c.128C>T (p.Thr43Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.116882369A= | CA1657429822 | RFX6 | c.507A= (p.Thr169=) n.571A= c.129A= (p.Thr43=) | |
| 6 | g.116882369A>C | CA451624766 | RFX6 | c.507A>C (p.Thr169=) n.571A>C c.129A>C (p.Thr43=) | |
| 6 | g.116882369A>G | CA451624767 | RFX6 | c.507A>G (p.Thr169=) n.571A>G c.129A>G (p.Thr43=) | |
| 6 | g.116882369A>T | CA3973043 | RFX6 | c.507A>T (p.Thr169=) n.571A>T c.129A>T (p.Thr43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882370A= | CA1657429823 | RFX6 | c.508A= (p.Ile170=) n.572A= c.130A= (p.Ile44=) | |
| 6 | g.116882370A>C | CA365427960 | RFX6 | c.508A>C (p.Ile170Leu) n.572A>C c.130A>C (p.Ile44Leu) | |
| 6 | g.116882370A>G | CA3973044 | RFX6 | c.508A>G (p.Ile170Val) n.572A>G c.130A>G (p.Ile44Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882370A>T | CA365427962 | RFX6 | c.508A>T (p.Ile170Phe) n.572A>T c.130A>T (p.Ile44Phe) | |
| 6 | g.116882371T>A | CA365427964 | RFX6 | c.509T>A (p.Ile170Asn) n.573T>A c.131T>A (p.Ile44Asn) | |
| 6 | g.116882371T>C | CA365427966 | RFX6 | c.509T>C (p.Ile170Thr) n.573T>C c.131T>C (p.Ile44Thr) | |
| 6 | g.116882371T>G | CA365427967 | RFX6 | c.509T>G (p.Ile170Ser) n.573T>G c.131T>G (p.Ile44Ser) | |
| 6 | g.116882372T>A | CA451624768 | RFX6 | c.510T>A (p.Ile170=) n.574T>A c.132T>A (p.Ile44=) | |
| 6 | g.116882372T>C | CA451624769 | RFX6 | c.510T>C (p.Ile170=) n.574T>C c.132T>C (p.Ile44=) | gnomAD v4 |
| 6 | g.116882372T>G | CA365427969 | RFX6 | c.510T>G (p.Ile170Met) n.574T>G c.132T>G (p.Ile44Met) | |
| 6 | g.116882373C>A | CA365427972 | RFX6 | c.511C>A (p.Arg171Ser) n.575C>A c.133C>A (p.Arg45Ser) | |
| 6 | g.116882373C= | CA1657429824 | RFX6 | c.511C= (p.Arg171=) n.575C= c.133C= (p.Arg45=) | |
| 6 | g.116882373C>G | CA365427973 | RFX6 | c.511C>G (p.Arg171Gly) n.575C>G c.133C>G (p.Arg45Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116882373C>T | CA3973045 | RFX6 | c.511C>T (p.Arg171Cys) n.575C>T c.133C>T (p.Arg45Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116882374G>A | CA145941750 | RFX6 | c.512G>A (p.Arg171His) n.576G>A c.134G>A (p.Arg45His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116882374G>C | CA365427975 | RFX6 | c.512G>C (p.Arg171Pro) n.576G>C c.134G>C (p.Arg45Pro) | |
| 6 | g.116882374G= | CA1657429825 | RFX6 | c.512G= (p.Arg171=) n.576G= c.134G= (p.Arg45=) | |
| 6 | g.116882374G>T | CA365427974 | RFX6 | c.512G>T (p.Arg171Leu) n.576G>T c.134G>T (p.Arg45Leu) | |
| 6 | g.116882375C>A | CA451624770 | RFX6 | c.513C>A (p.Arg171=) n.577C>A c.135C>A (p.Arg45=) | |
| 6 | g.116882375C>G | CA451624771 | RFX6 | c.513C>G (p.Arg171=) n.577C>G c.135C>G (p.Arg45=) | |
| 6 | g.116882375C>T | CA451624772 | RFX6 | c.513C>T (p.Arg171=) n.577C>T c.135C>T (p.Arg45=) | |
| 6 | g.116882376C>A | CA365427977 | RFX6 | c.514C>A (p.Gln172Lys) n.578C>A c.136C>A (p.Gln46Lys) | |
| 6 | g.116882376C= | CA1657429826 | RFX6 | c.514C= (p.Gln172=) n.578C= c.136C= (p.Gln46=) | |
| 6 | g.116882376C>G | CA145941752 | RFX6 | c.514C>G (p.Gln172Glu) n.578C>G c.136C>G (p.Gln46Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116882376C>T | CA365427978 | RFX6 | c.514C>T (p.Gln172Ter) n.578C>T c.136C>T (p.Gln46Ter) | |
| 6 | g.116882377A>C | CA365427980 | RFX6 | c.515A>C (p.Gln172Pro) n.579A>C c.137A>C (p.Gln46Pro) | |
| 6 | g.116882377A>G | CA365427981 | RFX6 | c.515A>G (p.Gln172Arg) n.579A>G c.137A>G (p.Gln46Arg) | dbSNP |
| 6 | g.116882377A>T | CA365427983 | RFX6 | c.515A>T (p.Gln172Leu) n.579A>T c.137A>T (p.Gln46Leu) | |
| 6 | g.116882378G>A | CA451624773 | RFX6 | c.516G>A (p.Gln172=) n.580G>A c.138G>A (p.Gln46=) | |
| 6 | g.116882378G>C | CA365427985 | RFX6 | c.516G>C (p.Gln172His) n.580G>C c.138G>C (p.Gln46His) | |
| 6 | g.116882378G= | CA1657429827 | RFX6 | c.516G= (p.Gln172=) n.580G= c.138G= (p.Gln46=) | |
| 6 | g.116882378G>T | CA365427987 | RFX6 | c.516G>T (p.Gln172His) n.580G>T c.138G>T (p.Gln46His) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116882379A= | CA1657429828 | RFX6 | c.517A= (p.Lys173=) n.581A= c.139A= (p.Lys47=) | |
| 6 | g.116882379A>C | CA365427989 | RFX6 | c.517A>C (p.Lys173Gln) n.581A>C c.139A>C (p.Lys47Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882379A>G | CA365427991 | RFX6 | c.517A>G (p.Lys173Glu) n.581A>G c.139A>G (p.Lys47Glu) | |
| 6 | g.116882379A>T | CA365427992 | RFX6 | c.517A>T (p.Lys173Ter) n.581A>T c.139A>T (p.Lys47Ter) | |
| 6 | g.116882380A>C | CA365427994 | RFX6 | c.518A>C (p.Lys173Thr) n.582A>C c.140A>C (p.Lys47Thr) | |
| 6 | g.116882380A>G | CA365427995 | RFX6 | c.518A>G (p.Lys173Arg) n.582A>G c.140A>G (p.Lys47Arg) | |
| 6 | g.116882380A>T | CA365427997 | RFX6 | c.518A>T (p.Lys173Met) n.582A>T c.140A>T (p.Lys47Met) | |
| 6 | g.116882381G>A | CA451624774 | RFX6 | c.519G>A (p.Lys173=) n.583G>A c.141G>A (p.Lys47=) | gnomAD v4 |
| 6 | g.116882381G>C | CA365428000 | RFX6 | c.519G>C (p.Lys173Asn) n.583G>C c.141G>C (p.Lys47Asn) | gnomAD v4 |
| 6 | g.116882381G>T | CA365427999 | RFX6 | c.519G>T (p.Lys173Asn) n.583G>T c.141G>T (p.Lys47Asn) | |
| 6 | g.116882382T>A | CA365428002 | RFX6 | c.520T>A (p.Phe174Ile) n.584T>A c.142T>A (p.Phe48Ile) | |
| 6 | g.116882382T>C | CA365428003 | RFX6 | c.520T>C (p.Phe174Leu) n.584T>C c.142T>C (p.Phe48Leu) | |
| 6 | g.116882382T>G | CA365428004 | RFX6 | c.520T>G (p.Phe174Val) n.584T>G c.142T>G (p.Phe48Val) | |
| 6 | g.116882383T>A | CA365428006 | RFX6 | c.521T>A (p.Phe174Tyr) n.585T>A c.143T>A (p.Phe48Tyr) | |
| 6 | g.116882383T>C | CA365428008 | RFX6 | c.521T>C (p.Phe174Ser) n.585T>C c.143T>C (p.Phe48Ser) | |
| 6 | g.116882383T>G | CA365428009 | RFX6 | c.521T>G (p.Phe174Cys) n.585T>G c.143T>G (p.Phe48Cys) | |
| 6 | g.116882384T>A | CA365428011 | RFX6 | c.522T>A (p.Phe174Leu) n.586T>A c.144T>A (p.Phe48Leu) | |
| 6 | g.116882384T>C | CA451624775 | RFX6 | c.522T>C (p.Phe174=) n.586T>C c.144T>C (p.Phe48=) | |
| 6 | g.116882384T>G | CA365428012 | RFX6 | c.522T>G (p.Phe174Leu) n.586T>G c.144T>G (p.Phe48Leu) | |
| 6 | g.116882385C>A | CA365428014 | RFX6 | c.523C>A (p.Pro175Thr) n.587C>A c.145C>A (p.Pro49Thr) | |
| 6 | g.116882385C= | CA1657429829 | RFX6 | c.523C= (p.Pro175=) n.587C= c.145C= (p.Pro49=) | |
| 6 | g.116882385C>G | CA365428016 | RFX6 | c.523C>G (p.Pro175Ala) n.587C>G c.145C>G (p.Pro49Ala) | |
| 6 | g.116882385C>T | CA145941760 | RFX6 | c.523C>T (p.Pro175Ser) n.587C>T c.145C>T (p.Pro49Ser) | dbSNP |
| 6 | g.116882388del | CA645560321 | RFX6 | c.526del (p.Leu176SerfsTer2) n.590del c.148del (p.Leu50SerfsTer2) | COSMIC |
| 6 | g.116882386C>A | CA365428020 | RFX6 | c.524C>A (p.Pro175His) n.588C>A c.146C>A (p.Pro49His) | |
| 6 | g.116882386C>G | CA365428022 | RFX6 | c.524C>G (p.Pro175Arg) n.588C>G c.146C>G (p.Pro49Arg) | |
| 6 | g.116882386C>T | CA365428018 | RFX6 | c.524C>T (p.Pro175Leu) n.588C>T c.146C>T (p.Pro49Leu) | |
| 6 | g.116882387C>A | CA451624777 | RFX6 | c.525C>A (p.Pro175=) n.589C>A c.147C>A (p.Pro49=) | |
| 6 | g.116882387C>G | CA451624778 | RFX6 | c.525C>G (p.Pro175=) n.589C>G c.147C>G (p.Pro49=) | |
| 6 | g.116882387C>T | CA451624776 | RFX6 | c.525C>T (p.Pro175=) n.589C>T c.147C>T (p.Pro49=) | |
| 6 | g.116882388C>A | CA365428023 | RFX6 | c.526C>A (p.Leu176Ile) n.590C>A c.148C>A (p.Leu50Ile) | |
| 6 | g.116882388C>G | CA365428025 | RFX6 | c.526C>G (p.Leu176Val) n.590C>G c.148C>G (p.Leu50Val) | gnomAD v4 |
| 6 | g.116882388C>T | CA365428026 | RFX6 | c.526C>T (p.Leu176Phe) n.590C>T c.148C>T (p.Leu50Phe) | |
| 6 | g.116882389T>A | CA365428027 | RFX6 | c.527T>A (p.Leu176His) n.591T>A c.149T>A (p.Leu50His) | |
| 6 | g.116882389T>C | CA365428028 | RFX6 | c.527T>C (p.Leu176Pro) n.591T>C c.149T>C (p.Leu50Pro) | gnomAD v4 |
| 6 | g.116882389T>G | CA365428030 | RFX6 | c.527T>G (p.Leu176Arg) n.591T>G c.149T>G (p.Leu50Arg) | |
| 6 | g.116882390C>A | CA451624781 | RFX6 | c.528C>A (p.Leu176=) n.592C>A c.150C>A (p.Leu50=) | |
| 6 | g.116882390C>G | CA451624779 | RFX6 | c.528C>G (p.Leu176=) n.592C>G c.150C>G (p.Leu50=) | |
| 6 | g.116882390C>T | CA451624780 | RFX6 | c.528C>T (p.Leu176=) n.592C>T c.150C>T (p.Leu50=) | |
| 6 | g.116882391C>A | CA365428034 | RFX6 | c.529C>A (p.Leu177Ile) n.593C>A c.151C>A (p.Leu51Ile) | |
| 6 | g.116882391C>G | CA365428032 | RFX6 | c.529C>G (p.Leu177Val) n.593C>G c.151C>G (p.Leu51Val) | gnomAD v4 |
| 6 | g.116882391C>T | CA451624782 | RFX6 | c.529C>T (p.Leu177=) n.593C>T c.151C>T (p.Leu51=) | |
| 6 | g.116882392T>A | CA365428036 | RFX6 | c.530T>A (p.Leu177Gln) n.594T>A c.152T>A (p.Leu51Gln) | |
| 6 | g.116882392T>C | CA365428038 | RFX6 | c.530T>C (p.Leu177Pro) n.594T>C c.152T>C (p.Leu51Pro) | |
| 6 | g.116882392T>G | CA365428039 | RFX6 | c.530T>G (p.Leu177Arg) n.594T>G c.152T>G (p.Leu51Arg) | |
| 6 | g.116882393A= | CA1657429830 | RFX6 | c.531A= (p.Leu177=) n.595A= c.153A= (p.Leu51=) | |
| 6 | g.116882393A>C | CA451624783 | RFX6 | c.531A>C (p.Leu177=) n.595A>C c.153A>C (p.Leu51=) | dbSNP |
| 6 | g.116882393A>G | CA451624785 | RFX6 | c.531A>G (p.Leu177=) n.595A>G c.153A>G (p.Leu51=) | |
| 6 | g.116882393A>T | CA451624784 | RFX6 | c.531A>T (p.Leu177=) n.595A>T c.153A>T (p.Leu51=) | |
| 6 | g.116882398_116882400del | CA2740780128 | RFX6 | c.536_538del (p.Thr179del) n.600_602del c.158_160del (p.Thr53del) | |
| 6 | g.116882394A>C | CA365428041 | RFX6 | c.532A>C (p.Thr178Pro) n.596A>C c.154A>C (p.Thr52Pro) | |
| 6 | g.116882394A>G | CA365428042 | RFX6 | c.532A>G (p.Thr178Ala) n.596A>G c.154A>G (p.Thr52Ala) | |
| 6 | g.116882394A>T | CA365428044 | RFX6 | c.532A>T (p.Thr178Ser) n.596A>T c.154A>T (p.Thr52Ser) | |
| 6 | g.116882395C>A | CA365428046 | RFX6 | c.533C>A (p.Thr178Lys) n.597C>A c.155C>A (p.Thr52Lys) | |
| 6 | g.116882395C>G | CA365428048 | RFX6 | c.533C>G (p.Thr178Arg) n.597C>G c.155C>G (p.Thr52Arg) | |
| 6 | g.116882395C>T | CA365428047 | RFX6 | c.533C>T (p.Thr178Ile) n.597C>T c.155C>T (p.Thr52Ile) | |
| 6 | g.116882395_116882410delinsCAACAAGGCGGCTTGG | CA1657429831 | RFX6 | c.533_548delinsCAACAAGGCGGCTTGG (p.Thr178=) n.597_612delinsCAACAAGGCGGCTTGG c.155_170delinsCAACAAGGCGGCTTGG (p.Thr52=) | |
| 6 | g.116882396A= | CA1657429832 | RFX6 | c.534A= (p.Thr178=) n.598A= c.156A= (p.Thr52=) | |
| 6 | g.116882396A>C | CA451624786 | RFX6 | c.534A>C (p.Thr178=) n.598A>C c.156A>C (p.Thr52=) | |
| 6 | g.116882396A>G | CA3973046 | RFX6 | c.534A>G (p.Thr178=) n.598A>G c.156A>G (p.Thr52=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882396A>T | CA451624787 | RFX6 | c.534A>T (p.Thr178=) n.598A>T c.156A>T (p.Thr52=) | |
| 6 | g.116882402_116882416del | CA1657429833 | RFX6 | c.540_554del (p.Arg181_Arg185del) n.604_618del c.162_176del (p.Arg55_Arg59del) | dbSNP |
| 6 | g.116882397A>C | CA365428050 | RFX6 | c.535A>C (p.Thr179Pro) n.599A>C c.157A>C (p.Thr53Pro) | |
| 6 | g.116882397A>G | CA365428052 | RFX6 | c.535A>G (p.Thr179Ala) n.599A>G c.157A>G (p.Thr53Ala) | |
| 6 | g.116882397A>T | CA365428054 | RFX6 | c.535A>T (p.Thr179Ser) n.599A>T c.157A>T (p.Thr53Ser) | |
| 6 | g.116882398C>A | CA365428055 | RFX6 | c.536C>A (p.Thr179Lys) n.600C>A c.158C>A (p.Thr53Lys) | |
| 6 | g.116882398C>G | CA365428056 | RFX6 | c.536C>G (p.Thr179Arg) n.600C>G c.158C>G (p.Thr53Arg) | |
| 6 | g.116882398C>T | CA365428057 | RFX6 | c.536C>T (p.Thr179Ile) n.600C>T c.158C>T (p.Thr53Ile) | |
| 6 | g.116882399A>C | CA451624788 | RFX6 | c.537A>C (p.Thr179=) n.601A>C c.159A>C (p.Thr53=) | |
| 6 | g.116882399A>G | CA451624789 | RFX6 | c.537A>G (p.Thr179=) n.601A>G c.159A>G (p.Thr53=) | |
| 6 | g.116882399A>T | CA451624790 | RFX6 | c.537A>T (p.Thr179=) n.601A>T c.159A>T (p.Thr53=) | |
| 6 | g.116882400A>C | CA451624791 | RFX6 | c.538A>C (p.Arg180=) n.602A>C c.160A>C (p.Arg54=) | |
| 6 | g.116882400A>G | CA365428059 | RFX6 | c.538A>G (p.Arg180Gly) n.602A>G c.160A>G (p.Arg54Gly) | |
| 6 | g.116882400A>T | CA365428061 | RFX6 | c.538A>T (p.Arg180Trp) n.602A>T c.160A>T (p.Arg54Trp) | |
| 6 | g.116882401G>A | CA365428063 | RFX6 | c.539G>A (p.Arg180Lys) n.603G>A c.161G>A (p.Arg54Lys) | gnomAD v4 |
| 6 | g.116882401G>C | CA365428064 | RFX6 | c.539G>C (p.Arg180Thr) n.603G>C c.161G>C (p.Arg54Thr) | |
| 6 | g.116882401G>T | CA365428065 | RFX6 | c.539G>T (p.Arg180Met) n.603G>T c.161G>T (p.Arg54Met) | |
| 6 | g.116882402G>A | CA3973047 | RFX6 | c.540G>A (p.Arg180=) n.604G>A c.162G>A (p.Arg54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882402G>C | CA365428068 | RFX6 | c.540G>C (p.Arg180Ser) n.604G>C c.162G>C (p.Arg54Ser) | |
| 6 | g.116882402G= | CA1657429834 | RFX6 | c.540G= (p.Arg180=) n.604G= c.162G= (p.Arg54=) | |
| 6 | g.116882402G>T | CA365428066 | RFX6 | c.540G>T (p.Arg180Ser) n.604G>T c.162G>T (p.Arg54Ser) | |
| 6 | g.116882403C>A | CA451624792 | RFX6 | c.541C>A (p.Arg181=) n.605C>A c.163C>A (p.Arg55=) | gnomAD v4 |
| 6 | g.116882403C= | CA1657429835 | RFX6 | c.541C= (p.Arg181=) n.605C= c.163C= (p.Arg55=) | |
| 6 | g.116882403C>G | CA365428069 | RFX6 | c.541C>G (p.Arg181Gly) n.605C>G c.163C>G (p.Arg55Gly) | |
| 6 | g.116882403C>T | CA154970 | RFX6 | c.541C>T (p.Arg181Trp) n.605C>T c.163C>T (p.Arg55Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116882404G>A | CA114334 | RFX6 | c.542G>A (p.Arg181Gln) n.606G>A c.164G>A (p.Arg55Gln) | ClinVar dbSNP gnomAD v4 |
| 6 | g.116882404G>C | CA365428070 | RFX6 | c.542G>C (p.Arg181Pro) n.606G>C c.164G>C (p.Arg55Pro) | |
| 6 | g.116882404G= | CA1657429836 | RFX6 | c.542G= (p.Arg181=) n.606G= c.164G= (p.Arg55=) | |
| 6 | g.116882404G>T | CA365428071 | RFX6 | c.542G>T (p.Arg181Leu) n.606G>T c.164G>T (p.Arg55Leu) | |
| 6 | g.116882405G>A | CA451624793 | RFX6 | c.543G>A (p.Arg181=) n.607G>A c.165G>A (p.Arg55=) | |
| 6 | g.116882405G>C | CA451624794 | RFX6 | c.543G>C (p.Arg181=) n.607G>C c.165G>C (p.Arg55=) | |
| 6 | g.116882405G>T | CA451624795 | RFX6 | c.543G>T (p.Arg181=) n.607G>T c.165G>T (p.Arg55=) | |
| 6 | g.116882406C>A | CA365428073 | RFX6 | c.544C>A (p.Leu182Ile) n.608C>A c.166C>A (p.Leu56Ile) | |
| 6 | g.116882406C>G | CA365428075 | RFX6 | c.544C>G (p.Leu182Val) n.608C>G c.166C>G (p.Leu56Val) | gnomAD v4 |
| 6 | g.116882406C>T | CA365428076 | RFX6 | c.544C>T (p.Leu182Phe) n.608C>T c.166C>T (p.Leu56Phe) | |
| 6 | g.116882407T>A | CA365428081 | RFX6 | c.545T>A (p.Leu182His) n.609T>A c.167T>A (p.Leu56His) | dbSNP |
| 6 | g.116882407T>C | CA365428080 | RFX6 | c.545T>C (p.Leu182Pro) n.609T>C c.167T>C (p.Leu56Pro) | COSMIC |
| 6 | g.116882407T>G | CA365428078 | RFX6 | c.545T>G (p.Leu182Arg) n.609T>G c.167T>G (p.Leu56Arg) | |
| 6 | g.116882408dup | CA2740780129 | RFX6 | c.546dup (p.Gly183TrpfsTer?) n.610dup c.168dup (p.Gly57TrpfsTer?) | |
| 6 | g.116882408T>A | CA451624796 | RFX6 | c.546T>A (p.Leu182=) n.610T>A c.168T>A (p.Leu56=) | |
| 6 | g.116882408T>C | CA451624798 | RFX6 | c.546T>C (p.Leu182=) n.610T>C c.168T>C (p.Leu56=) | |
| 6 | g.116882408T>G | CA451624797 | RFX6 | c.546T>G (p.Leu182=) n.610T>G c.168T>G (p.Leu56=) | gnomAD v4 |
| 6 | g.116882409G>A | CA365428083 | RFX6 | c.547G>A (p.Gly183Arg) n.611G>A c.169G>A (p.Gly57Arg) | |
| 6 | g.116882409G>C | CA365428085 | RFX6 | c.547G>C (p.Gly183Arg) n.611G>C c.169G>C (p.Gly57Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116882409G= | CA1657429837 | RFX6 | c.547G= (p.Gly183=) n.611G= c.169G= (p.Gly57=) | |
| 6 | g.116882409G>T | CA365428087 | RFX6 | c.547G>T (p.Gly183Ter) n.611G>T c.169G>T (p.Gly57Ter) | |
| 6 | g.116882410G>A | CA365428088 | RFX6 | c.548G>A (p.Gly183Glu) n.612G>A c.170G>A (p.Gly57Glu) | |
| 6 | g.116882410G>C | CA365428089 | RFX6 | c.548G>C (p.Gly183Ala) n.612G>C c.170G>C (p.Gly57Ala) | |
| 6 | g.116882410G>T | CA365428090 | RFX6 | c.548G>T (p.Gly183Val) n.612G>T c.170G>T (p.Gly57Val) | |
| 6 | g.116882411A>C | CA451624799 | RFX6 | c.549A>C (p.Gly183=) n.613A>C c.171A>C (p.Gly57=) | |
| 6 | g.116882411A>G | CA451624801 | RFX6 | c.549A>G (p.Gly183=) n.613A>G c.171A>G (p.Gly57=) | |
| 6 | g.116882411A>T | CA451624800 | RFX6 | c.549A>T (p.Gly183=) n.613A>T c.171A>T (p.Gly57=) | |
| 6 | g.116882412A>C | CA365428091 | RFX6 | c.550A>C (p.Thr184Pro) n.614A>C c.172A>C (p.Thr58Pro) | |
| 6 | g.116882412A>G | CA365428093 | RFX6 | c.550A>G (p.Thr184Ala) n.614A>G c.172A>G (p.Thr58Ala) | |
| 6 | g.116882412A>T | CA365428092 | RFX6 | c.550A>T (p.Thr184Ser) n.614A>T c.172A>T (p.Thr58Ser) | |
| 6 | g.116882413C>A | CA365428094 | RFX6 | c.551C>A (p.Thr184Lys) n.615C>A c.173C>A (p.Thr58Lys) | |
| 6 | g.116882413C>G | CA365428095 | RFX6 | c.551C>G (p.Thr184Arg) n.615C>G c.173C>G (p.Thr58Arg) | |
| 6 | g.116882413C>T | CA365428096 | RFX6 | c.551C>T (p.Thr184Ile) n.615C>T c.173C>T (p.Thr58Ile) | |
| 6 | g.116882414A>C | CA451624802 | RFX6 | c.552A>C (p.Thr184=) n.616A>C c.174A>C (p.Thr58=) | |
| 6 | g.116882414A>G | CA451624804 | RFX6 | c.552A>G (p.Thr184=) n.616A>G c.174A>G (p.Thr58=) | dbSNP |
| 6 | g.116882414A>T | CA451624803 | RFX6 | c.552A>T (p.Thr184=) n.616A>T c.174A>T (p.Thr58=) | |
| 6 | g.116882415A>C | CA451624805 | RFX6 | c.553A>C (p.Arg185=) n.617A>C c.175A>C (p.Arg59=) | |
| 6 | g.116882415A>G | CA365428097 | RFX6 | c.553A>G (p.Arg185Gly) n.617A>G c.175A>G (p.Arg59Gly) | |
| 6 | g.116882415A>T | CA365428098 | RFX6 | c.553A>T (p.Arg185Ter) n.617A>T c.175A>T (p.Arg59Ter) | |
| 6 | g.116882416G>A | CA365428099 | RFX6 | c.554G>A (p.Arg185Lys) n.618G>A c.176G>A (p.Arg59Lys) | gnomAD v4 |
| 6 | g.116882416G>C | CA365428100 | RFX6 | c.554G>C (p.Arg185Thr) n.618G>C c.176G>C (p.Arg59Thr) | ClinVar dbSNP |
| 6 | g.116882416G= | CA1657429838 | RFX6 | c.554G= (p.Arg185=) n.618G= c.176G= (p.Arg59=) | |
| 6 | g.116882416G>T | CA365428101 | RFX6 | c.554G>T (p.Arg185Ile) n.618G>T c.176G>T (p.Arg59Ile) | |
| 6 | g.116882417A>C | CA365428102 | RFX6 | c.555A>C (p.Arg185Ser) n.619A>C c.177A>C (p.Arg59Ser) | |
| 6 | g.116882417A>G | CA451624806 | RFX6 | c.555A>G (p.Arg185=) n.619A>G c.177A>G (p.Arg59=) | |
| 6 | g.116882417A>T | CA365428103 | RFX6 | c.555A>T (p.Arg185Ser) n.619A>T c.177A>T (p.Arg59Ser) | |
| 6 | g.116882418G>A | CA365428106 | RFX6 | c.556G>A (p.Gly186Ser) n.620G>A c.178G>A (p.Gly60Ser) | COSMIC |
| 6 | g.116882418G>C | CA365428105 | RFX6 | c.556G>C (p.Gly186Arg) n.620G>C c.178G>C (p.Gly60Arg) | |
| 6 | g.116882418G>T | CA365428104 | RFX6 | c.556G>T (p.Gly186Cys) n.620G>T c.178G>T (p.Gly60Cys) | |
| 6 | g.116882419G>A | CA365428107 | RFX6 | c.557G>A (p.Gly186Asp) n.621G>A c.179G>A (p.Gly60Asp) | gnomAD v4 |
| 6 | g.116882419G>C | CA365428108 | RFX6 | c.557G>C (p.Gly186Ala) n.621G>C c.179G>C (p.Gly60Ala) | |
| 6 | g.116882419G>T | CA365428109 | RFX6 | c.557G>T (p.Gly186Val) n.621G>T c.179G>T (p.Gly60Val) | COSMIC |
| 6 | g.116882420C>A | CA451624807 | RFX6 | c.558C>A (p.Gly186=) n.622C>A c.180C>A (p.Gly60=) | |
| 6 | g.116882420C= | CA1657429839 | RFX6 | c.558C= (p.Gly186=) n.622C= c.180C= (p.Gly60=) | |
| 6 | g.116882420C>G | CA451624808 | RFX6 | c.558C>G (p.Gly186=) n.622C>G c.180C>G (p.Gly60=) | |
| 6 | g.116882420C>T | CA3973048 | RFX6 | c.558C>T (p.Gly186=) n.622C>T c.180C>T (p.Gly60=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116882421del | CA2578723031 | RFX6 | c.559del (p.His187IlefsTer27) n.623del c.181del (p.His61IlefsTer27) | gnomAD v4 |
| 6 | g.116882421C>A | CA365428110 | RFX6 | c.559C>A (p.His187Asn) n.623C>A c.181C>A (p.His61Asn) | |
| 6 | g.116882421C>G | CA365428111 | RFX6 | c.559C>G (p.His187Asp) n.623C>G c.181C>G (p.His61Asp) | |
| 6 | g.116882421C>T | CA365428112 | RFX6 | c.559C>T (p.His187Tyr) n.623C>T c.181C>T (p.His61Tyr) | |
| 6 | g.116882423_116882426del | CA2680129517 | RFX6 | c.561_564del (p.His187GlnfsTer26) n.625_628del c.183_186del (p.His61GlnfsTer26) | gnomAD v4 |
| 6 | g.116882422A= | CA1657429840 | RFX6 | c.560A= (p.His187=) n.624A= c.182A= (p.His61=) | |
| 6 | g.116882422A>C | CA365428113 | RFX6 | c.560A>C (p.His187Pro) n.624A>C c.182A>C (p.His61Pro) | |
| 6 | g.116882422A>G | CA3973049 | RFX6 | c.560A>G (p.His187Arg) n.624A>G c.182A>G (p.His61Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116882422A>T | CA365428114 | RFX6 | c.560A>T (p.His187Leu) n.624A>T c.182A>T (p.His61Leu) | |
| 6 | g.116882423T>A | CA365428115 | RFX6 | c.561T>A (p.His187Gln) n.625T>A c.183T>A (p.His61Gln) | |
| 6 | g.116882423T>C | CA451624809 | RFX6 | c.561T>C (p.His187=) n.625T>C c.183T>C (p.His61=) | |
| 6 | g.116882423T>G | CA365428116 | RFX6 | c.561T>G (p.His187Gln) n.625T>G c.183T>G (p.His61Gln) | |
| 6 | g.116882424T>A | CA365428118 | RFX6 | c.562T>A (p.Ser188Thr) n.626T>A c.184T>A (p.Ser62Thr) | |
| 6 | g.116882424T>C | CA365428119 | RFX6 | c.562T>C (p.Ser188Pro) n.626T>C c.184T>C (p.Ser62Pro) | |
| 6 | g.116882424T>G | CA365428117 | RFX6 | c.562T>G (p.Ser188Ala) n.626T>G c.184T>G (p.Ser62Ala) | |
| 6 | g.116882425C>A | CA365428120 | RFX6 | c.563C>A (p.Ser188Ter) n.627C>A c.185C>A (p.Ser62Ter) | gnomAD v4 |
| 6 | g.116882425C>G | CA365428121 | RFX6 | c.563C>G (p.Ser188Ter) n.627C>G c.185C>G (p.Ser62Ter) | |
| 6 | g.116882425C>T | CA365428122 | RFX6 | c.563C>T (p.Ser188Leu) n.627C>T c.185C>T (p.Ser62Leu) | |
| 6 | g.116882426A= | CA1657429841 | RFX6 | c.564A= (p.Ser188=) n.628A= c.186A= (p.Ser62=) | |
| 6 | g.116882426A>C | CA451624810 | RFX6 | c.564A>C (p.Ser188=) n.628A>C c.186A>C (p.Ser62=) | |
| 6 | g.116882426A>G | CA3973050 | RFX6 | c.564A>G (p.Ser188=) n.628A>G c.186A>G (p.Ser62=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116882426A>T | CA451624811 | RFX6 | c.564A>T (p.Ser188=) n.628A>T c.186A>T (p.Ser62=) | |
| 6 | g.116882427A>C | CA365428125 | RFX6 | c.565A>C (p.Lys189Gln) n.629A>C c.187A>C (p.Lys63Gln) | |
| 6 | g.116882427A>G | CA365428124 | RFX6 | c.565A>G (p.Lys189Glu) n.629A>G c.187A>G (p.Lys63Glu) | COSMIC |
| 6 | g.116882427A>T | CA365428123 | RFX6 | c.565A>T (p.Lys189Ter) n.629A>T c.187A>T (p.Lys63Ter) | |
| 6 | g.116882428A>C | CA365428126 | RFX6 | c.566A>C (p.Lys189Thr) n.630A>C c.188A>C (p.Lys63Thr) | |
| 6 | g.116882428A>G | CA365428127 | RFX6 | c.566A>G (p.Lys189Arg) n.630A>G c.188A>G (p.Lys63Arg) | |
| 6 | g.116882428A>T | CA365428128 | RFX6 | c.566A>T (p.Lys189Met) n.630A>T c.188A>T (p.Lys63Met) | |
| 6 | g.116882429G>A | CA365428129 | RFX6 | c.566+1G>A (n.566+1G>A) n.630+1G>A c.188+1G>A (n.188+1G>A) | |
| 6 | g.116882429G>C | CA365428130 | RFX6 | c.566+1G>C (n.566+1G>C) n.630+1G>C c.188+1G>C (n.188+1G>C) | |
| 6 | g.116882429G>T | CA365428131 | RFX6 | c.566+1G>T (n.566+1G>T) n.630+1G>T c.188+1G>T (n.188+1G>T) | |
| 6 | g.116882430del | CA2578723032 | RFX6 | c.566+2del (n.566+2del) n.630+2del c.188+2del (n.188+2del) | |
| 6 | g.116882430T>A | CA365428134 | RFX6 | c.566+2T>A (n.566+2T>A) n.630+2T>A c.188+2T>A (n.188+2T>A) | |
| 6 | g.116882430T>C | CA365428133 | RFX6 | c.566+2T>C (n.566+2T>C) n.630+2T>C c.188+2T>C (n.188+2T>C) | gnomAD v4 |
| 6 | g.116882430T>G | CA365428132 | RFX6 | c.566+2T>G (n.566+2T>G) n.630+2T>G c.188+2T>G (n.188+2T>G) | |
| 6 | g.116882431A= | CA1657429842 | RFX6 | c.566+3A= (n.566+3A=) n.630+3A= c.188+3A= (n.188+3A=) | |
| 6 | g.116882431A>G | CA569700644 | RFX6 | c.566+3A>G (n.566+3A>G) n.630+3A>G c.188+3A>G (n.188+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882433G>C | CA2573140426 | RFX6 | c.566+5G>C (n.566+5G>C) n.630+5G>C c.188+5G>C (n.188+5G>C) | ClinVar dbSNP |
| 6 | g.116882434A= | CA1657429843 | RFX6 | c.566+6A= (n.566+6A=) n.630+6A= c.188+6A= (n.188+6A=) | |
| 6 | g.116882434A>G | CA817737583 | RFX6 | c.566+6A>G (n.566+6A>G) n.630+6A>G c.188+6A>G (n.188+6A>G) | dbSNP gnomAD v4 |
| 6 | g.116882435T>A | CA2680129518 | RFX6 | c.566+7T>A (n.566+7T>A) n.630+7T>A c.188+7T>A (n.188+7T>A) | gnomAD v4 |
| 6 | g.116882435T>C | CA817737584 | RFX6 | c.566+7T>C (n.566+7T>C) n.630+7T>C c.188+7T>C (n.188+7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116882435T= | CA1657429844 | RFX6 | c.566+7T= (n.566+7T=) n.630+7T= c.188+7T= (n.188+7T=) | |
| 6 | g.116882436A= | CA1657429845 | RFX6 | c.566+8A= (n.566+8A=) n.630+8A= c.188+8A= (n.188+8A=) | |
| 6 | g.116882436A>G | CA3973051 | RFX6 | c.566+8A>G (n.566+8A>G) n.630+8A>G c.188+8A>G (n.188+8A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882437C>A | CA3973052 | RFX6 | c.566+9C>A (n.566+9C>A) n.630+9C>A c.188+9C>A (n.188+9C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116882437C= | CA1657429846 | RFX6 | c.566+9C= (n.566+9C=) n.630+9C= c.188+9C= (n.188+9C=) | |
| 6 | g.116882438C>A | CA2680129519 | RFX6 | c.566+10C>A (n.566+10C>A) n.630+10C>A c.188+10C>A (n.188+10C>A) | gnomAD v4 |
| 6 | g.116882439A= | CA1657429847 | RFX6 | c.566+11A= (n.566+11A=) n.630+11A= c.188+11A= (n.188+11A=) | |
| 6 | g.116882439A>G | CA145941817 | RFX6 | c.566+11A>G (n.566+11A>G) n.630+11A>G c.188+11A>G (n.188+11A>G) | dbSNP gnomAD v3 gnomAD v4 |